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	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
KATNB1	10300	broad.mit.edu	37	16	57787351	57787351	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:57787351A>G	uc002eml.1	+	11	1471	c.1097A>G	c.(1096-1098)gAc>gGc	p.D366G		NM_005886	NP_005877	Q9BVA0	KTNB1_HUMAN	Homo sapiens katanin p80 (WD repeat containing) subunit B 1 (KATNB1), mRNA.	366	Interaction with PAFAH1B1 (By similarity).				cell division|mitosis|negative regulation of microtubule depolymerization|positive regulation of microtubule depolymerization|protein targeting	katanin complex|microtubule|spindle pole	microtubule binding|protein heterodimerization activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_neural(199;0.223)				AGCGAGGATGACCGGGACGAG	0.667000														51			4		0	0	1	0	0
TJP2	9414	broad.mit.edu	37	9	71869245	71869245	+	Silent	SNP	C	T	T	rs147675640		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:71869245C>T	uc004ahe.3	+	22	3846	c.3528C>T	c.(3526-3528)cgC>cgT	p.R1176R	TJP2_uc011lrs.2_Silent_p.R1006R|TJP2_uc004ahf.3_Silent_p.R1029R|TJP2_uc011lru.2_Silent_p.R1143R|TJP2_uc011lrv.2_Silent_p.R1207R|TJP2_uc010mom.1_3'UTR	NM_004817	NP_004808	Q9UDY2	ZO2_HUMAN	Homo sapiens tight junction protein 2 (zona occludens 2) (TJP2), transcript variant 1, mRNA.	1176					cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding	p.R1176H(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						ACTCCAAGCGCGGTTACTATG	0.552000														71			6		0	0	1	0	0
RXFP4	339403	broad.mit.edu	37	1	155912066	155912066	+	Missense_Mutation	SNP	G	A	A	rs145457936		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155912066G>A	uc010pgs.2	+	0	587	c.566G>A	c.(565-567)cGc>cAc	p.R189H		NM_181885	NP_871001	Q8TDU9	RL3R2_HUMAN	Homo sapiens relaxin/insulin-like family peptide receptor 4 (RXFP4), mRNA.	189						integral to membrane|plasma membrane	angiotensin type II receptor activity			endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	13	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					TGTGGTGTGCGCCTTTGCCTG	0.662000														50			28		0	0	1	0	0
PASK	23178	broad.mit.edu	37	2	242065692	242065692	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:242065692G>A	uc002wao.2	-	9	2771	c.2638C>T	c.(2638-2640)Cgc>Tgc	p.R880C	PASK_uc010zol.2_Missense_Mutation_p.R694C|PASK_uc010zom.2_Missense_Mutation_p.R845C|PASK_uc010fzl.2_Missense_Mutation_p.R880C|PASK_uc010zon.2_Missense_Mutation_p.R661C|PASK_uc021vzf.1_Missense_Mutation_p.R880C|PASK_uc002wap.3_Missense_Mutation_p.R423C|PASK_uc002waq.3_Missense_Mutation_p.R880C	NM_015148	NP_055963	Q96RG2	PASK_HUMAN	Homo sapiens PAS domain containing serine/threonine kinase (PASK), transcript variant 2, mRNA.	880					regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		GCAGCCCCGCGCATCACGATC	0.642000														71			9		0	0	1	0	0
UBE2H	7328	broad.mit.edu	37	7	129474840	129474840	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:129474840G>A	uc003vpf.2	-	6	894	c.489C>T	c.(487-489)gaC>gaT	p.D163D	UBE2H_uc022aln.1_Silent_p.D93D|UBE2H_uc003vpg.2_Silent_p.D132D|UBE2H_uc003vpe.3_Non-coding_Transcript	NM_003344	NP_001189427	P62256	UBE2H_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2H (UBE2H), transcript variant 1, mRNA.	163					protein K11-linked ubiquitination|protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process		ATP binding|ubiquitin-protein ligase activity	p.D163N(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|skin(1)	10	Melanoma(18;0.0435)					CCGATGAGCTGTCCCCGGTAC	0.498000														75			10		0	0	1	0	0
HSD3B1	3283	broad.mit.edu	37	1	120056731	120056731	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:120056731C>T	uc001ehv.1	+	3	730	c.585C>T	c.(583-585)agC>agT	p.S195S		NM_000862	NP_000853	P14060	3BHS1_HUMAN	Homo sapiens hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 (HSD3B1), mRNA.	195					androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1)	32	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	NADH(DB00157)|Trilostane(DB01108)	GGGAAGGAAGCCGATTCCTTT	0.493000														60			41		0	0	1	0	0
THG1L	54974	broad.mit.edu	37	5	157161725	157161725	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:157161725G>T	uc003lxd.3	+	2	636	c.510G>T	c.(508-510)aaG>aaT	p.K170N	THG1L_uc011ddu.2_Missense_Mutation_p.K38N	NM_017872	NP_060342	Q9NWX6	THG1_HUMAN	Homo sapiens tRNA-histidine guanylyltransferase 1-like (S. cerevisiae) (THG1L), mRNA.	170					protein homotetramerization|tRNA modification	mitochondrion	GTP binding|metal ion binding|tRNA guanylyltransferase activity			NS(1)|central_nervous_system(2)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)	13	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AGACTTTAAAGGACTACCTCA	0.468000														33			17		0.000422831	0.000453626	1	1	0
FAM208A	23272	broad.mit.edu	37	3	56661162	56661162	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:56661162T>G	uc003did.4	-	19	3960	c.3859A>C	c.(3859-3861)Aat>Cat	p.N1287H	FAM208A_uc003dib.4_Missense_Mutation_p.N406H|FAM208A_uc003dic.4_Missense_Mutation_p.N911H|FAM208A_uc003die.4_Missense_Mutation_p.N1348H	NM_015224	NP_056039	Q9UK61	CC063_HUMAN	Homo sapiens family with sequence similarity 208, member A (FAM208A), transcript variant 2, mRNA.	1348								p.N1287I(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(11)|prostate(3)|skin(1)	32						GTCAAAAAATTTTTAAGGTTC	0.299000														40			12		0	0	1	0	0
TFIP11	24144	broad.mit.edu	37	22	26895172	26895172	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:26895172G>A	uc003acr.2	-	7	1601	c.1227C>T	c.(1225-1227)gaC>gaT	p.D409D	TFIP11_uc003acs.2_Silent_p.D409D|TFIP11_uc003act.2_Silent_p.D409D	NM_012143	NP_036275	Q9UBB9	TFP11_HUMAN	Homo sapiens tuftelin interacting protein 11 (TFIP11), transcript variant 2, mRNA.	409					biomineral tissue development	catalytic step 2 spliceosome|cytoplasm|nuclear speck	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25						CATAGTACTTGTCCTGCAGGG	0.587000														59			8		0	0	1	0	0
TCHH	7062	broad.mit.edu	37	1	152082035	152082035	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:152082035G>A	uc009wne.1	-	2	3930	c.3658C>T	c.(3658-3660)Cgc>Tgc	p.R1220C	TCHH_uc001ezp.2_Missense_Mutation_p.R1220C	NM_007113	NP_009044	Q07283	TRHY_HUMAN	Homo sapiens trichohyalin (TCHH), mRNA.	1220					keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGATCACTGCGCTGATCCTCA	0.517000														36			42		0	0	1	0	0
JAKMIP2	9832	broad.mit.edu	37	5	147020280	147020280	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:147020280T>C	uc010jgo.1	-	7	1536	c.1388A>G	c.(1387-1389)gAt>gGt	p.D463G	JAKMIP2_uc003loq.1_Missense_Mutation_p.D463G|JAKMIP2_uc011dbx.1_Missense_Mutation_p.D421G|JAKMIP2_uc003lor.1_Missense_Mutation_p.D463G|LOC153469_uc003lop.1_Intron	NM_014790	NP_055605	Q96AA8	JKIP2_HUMAN	Homo sapiens janus kinase and microtubule interacting protein 2 (JAKMIP2), mRNA.	463						Golgi apparatus				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATCCAAGTCATCATCAGGAGT	0.408000														66			39		0	0	1	0	0
DOCK5	80005	broad.mit.edu	37	8	26217769	26217769	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:26217769G>T	uc003xeu.3	+	4	760	c.431G>T	c.(430-432)aGa>aTa	p.R144I	DOCK5_uc003xek.3_Intron|DOCK5_uc011laf.2_Missense_Mutation_p.R154I	NM_002717	NP_002708	Q9H7D0	DOCK5_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B, alpha (PPP2R2A), transcript variant 1, mRNA.	0						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		GGAAGGTATAGAGATCCTACT	0.343000														57			8		0.00307968	0.00322291	1	1	0
CHMP2B	25978	broad.mit.edu	37	3	87294956	87294956	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:87294956G>A	uc003dqp.4	+	2	479	c.219G>A	c.(217-219)acG>acA	p.T73T	CHMP2B_uc011bgn.2_Silent_p.T32T	NM_014043	NP_054762	Q9UQN3	CHM2B_HUMAN	Homo sapiens charged multivesicular body protein 2B (CHMP2B), transcript variant 1, mRNA.	73					cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane|mitochondrion|nucleus	protein domain specific binding	p.T73T(2)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(1)|ovary(1)|skin(2)	12	all_cancers(8;0.104)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		AACAGAAGACGAGAACTTTTG	0.363000														38			22		0	0	1	0	0
MAP4K3	8491	broad.mit.edu	37	2	39499678	39499678	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:39499678G>A	uc002rro.3	-	24	1891	c.1800C>T	c.(1798-1800)ttC>ttT	p.F600F	MAP4K3_uc002rrp.3_Silent_p.F579F|MAP4K3_uc010yns.2_Silent_p.F153F	NM_003618	NP_003609	Q8IVH8	M4K3_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase kinase 3 (MAP4K3), mRNA.	600	CNH.				JNK cascade		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				ACCTTCGAGGGAATAGCTGAT	0.303000														58			6		0	0	1	0	0
RS1	6247	broad.mit.edu	37	X	18665341	18665341	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:18665341T>C	uc004cyo.3	-	3	331	c.296A>G	c.(295-297)aAc>aGc	p.N99S	CDKL5_uc004cym.3_Intron|CDKL5_uc004cyn.3_Intron	NM_000330	NP_000321	O15537	XLRS1_HUMAN	Homo sapiens retinoschisin 1 (RS1), mRNA.	99	F5/8 type C.				cell adhesion|multicellular organismal development|response to stimulus|visual perception	extracellular space				cervix(1)|endometrium(4)|large_intestine(5)|lung(2)|ovary(2)|skin(1)	15	Hepatocellular(33;0.183)					CCGGGCCTTGTTTGCAGTCCA	0.532000														47			26		0	0	1	0	0
ZNF662	389114	broad.mit.edu	37	3	42955844	42955844	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:42955844A>C	uc003cmk.2	+	3	543	c.357A>C	c.(355-357)gaA>gaC	p.E119D	ZNF662_uc003cmi.2_Missense_Mutation_p.E93D|ZNF662_uc003cmj.2_5'UTR	NM_001134656	NP_001128128	Q6ZS27	ZN662_HUMAN	Homo sapiens zinc finger protein 662 (ZNF662), transcript variant 2, mRNA.	93					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.217)		GGAAGAAAGAAGATTTTATTC	0.423000														41			37		0	0	1	0	0
SNX19	399979	broad.mit.edu	37	11	130784470	130784470	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:130784470C>A	uc001qgk.4	-	0	1913	c.1365G>T	c.(1363-1365)gaG>gaT	p.E455D	SNX19_uc010sce.2_Intron|SNX19_uc010scf.2_Intron|SNX19_uc010scg.2_Intron|SNX19_uc001qgl.3_Missense_Mutation_p.E455D|SNX19_uc009zcx.1_Intron	NM_014758	NP_055573	Q92543	SNX19_HUMAN	Homo sapiens sorting nexin 19 (SNX19), mRNA.	455					cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		CTTGTTCTATCTCCTTGTCTG	0.547000														86			7		1.06961e-07	1.2399e-07	1	1	0
LRRC27	80313	broad.mit.edu	37	10	134165236	134165236	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:134165236C>A	uc010quw.1	+	6	1247	c.1052C>A	c.(1051-1053)gCt>gAt	p.A351D	LRRC27_uc001llf.2_Missense_Mutation_p.L383I|LRRC27_uc010quv.1_Missense_Mutation_p.A351D|LRRC27_uc001llg.2_Non-coding_Transcript|LRRC27_uc001lli.2_Missense_Mutation_p.A351D|LRRC27_uc001llj.2_Missense_Mutation_p.A289D|LRRC27_uc001llk.4_Missense_Mutation_p.A224D	NM_030626	NP_085129	Q9C0I9	LRC27_HUMAN	Homo sapiens leucine rich repeat containing 27 (LRRC27), transcript variant 1, mRNA.	351										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	18		all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218)		GAGAAGCAGGCTCTGATGGAG	0.612000														56			5		0.000602214	0.000641151	1	1	0
RETSAT	54884	broad.mit.edu	37	2	85573132	85573132	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:85573132T>C	uc002spd.3	-	5	1274	c.1083A>G	c.(1081-1083)gaA>gaG	p.E361E	RETSAT_uc010fge.3_Non-coding_Transcript|RETSAT_uc010ysm.2_Silent_p.E300E	NM_017750	NP_060220	Q6NUM9	RETST_HUMAN	Homo sapiens retinol saturase (all-trans-retinol 13,14-reductase) (RETSAT), mRNA.	361					retinol metabolic process	endoplasmic reticulum membrane|nuclear outer membrane	all-trans-retinol 13,14-reductase activity|electron carrier activity			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30					Vitamin A(DB00162)	GCAGTAGGTGTTCATAGGTGT	0.582000														80			56		0	0	1	0	0
LIMD2	80774	broad.mit.edu	37	17	61776415	61776415	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:61776415G>A	uc002jbj.4	-	2	235	c.57C>T	c.(55-57)ggC>ggT	p.G19G	LIMD2_uc002jbl.4_Silent_p.G19G	NM_030576	NP_085053	Q9BT23	LIMD2_HUMAN	Homo sapiens LIM domain containing 2 (LIMD2), mRNA.	19							zinc ion binding			kidney(1)|lung(2)	3						TGCTGCTGCCGCCGCCTTTGG	0.736000														8			10		0	0	1	0	0
PRKDC	5591	broad.mit.edu	37	8	48766717	48766717	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:48766717T>C	uc003xqi.3	-	51	6874	c.6817A>G	c.(6817-6819)Att>Gtt	p.I2273V	PRKDC_uc003xqj.3_Missense_Mutation_p.I2273V	NM_006904	NP_008835	P78527	PRKDC_HUMAN	Homo sapiens protein kinase, DNA-activated, catalytic polypeptide (PRKDC), transcript variant 1, mRNA.	2274					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				AGCAATTGAATCCCTACTGAG	0.403000								Non-homologous end-joining						19			11		0	0	1	0	0
SLC41A1	254428	broad.mit.edu	37	1	205767837	205767837	+	Silent	SNP	C	T	T	rs143860467		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:205767837C>T	uc001hdh.1	-	5	1676	c.804G>A	c.(802-804)gcG>gcA	p.A268A	SLC41A1_uc001hdg.1_5'Flank|AX748016_uc001hdi.1_5'Flank	NM_173854	NP_776253	Q8IVJ1	S41A1_HUMAN	Homo sapiens solute carrier family 41, member 1 (SLC41A1), mRNA.	268						integral to membrane|plasma membrane	magnesium ion transmembrane transporter activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	17	Breast(84;0.0799)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			CTGAGAGCAGCGCCAAGGTGA	0.567000														52			26		0	0	1	0	0
CYP2B6	1555	broad.mit.edu	37	19	41518713	41518713	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:41518713C>A	uc002opr.1	+	7	1294	c.1287C>A	c.(1285-1287)ttC>ttA	p.F429L	CYP2A7_uc002opo.3_Intron|CYP2B6_uc010xvu.1_Missense_Mutation_p.F229L	NM_000767	NP_000758	P20813	CP2B6_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily B, polypeptide 6 (CYP2B6), mRNA.	429					cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)	TTATCCCCTTCTCCTTAGGTA	0.458000														148			78		3.71121e-27	4.87353e-27	1	1	0
E2F1	1869	broad.mit.edu	37	20	32264576	32264576	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:32264576C>T	uc002wzu.4	-	6	1416	c.1276G>A	c.(1276-1278)Gac>Aac	p.D426N	NECAB3_uc002wzm.4_5'Flank|NECAB3_uc002wzn.4_5'Flank|NECAB3_uc002wzo.4_5'Flank	NM_005225	NP_005216	Q01094	E2F1_HUMAN	Homo sapiens E2F transcription factor 1 (E2F1), mRNA.	426	Retinoblastoma protein RB1 binding (Potential).|Transactivation.				G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|apoptosis|cell proliferation|mRNA stabilization|negative regulation of transcription involved in G1/S phase of mitotic cell cycle|positive regulation of fibroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle	Rb-E2F complex|mitochondrion	sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription factor binding			NS(2)|breast(1)|endometrium(3)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	16						AAGTCACAGTCGAAGAGGTCT	0.627000														6			5		0	0	1	0	0
CC2D2B	387707	broad.mit.edu	37	10	97769581	97769581	+	Splice_Site	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:97769581G>T	uc010qop.2	+	4	254	c.22_splice	c.e4-1	p.D8_splice	LOC728558_uc001klg.2_Intron|LOC728558_uc001klj.2_Intron|CC2D2B_uc001klk.3_Splice_Site|CC2D2B_uc001kll.3_Splice_Site_p.D8_splice	NM_001159747	NP_001153219	Q6DHV5	C2D2B_HUMAN	Homo sapiens coiled-coil and C2 domain containing 2B (CC2D2B), transcript variant 1, mRNA.	8										large_intestine(1)|lung(7)|ovary(1)|urinary_tract(1)	10		Colorectal(252;0.158)		Epithelial(162;7.08e-08)|all cancers(201;2.71e-06)		tattttCATAGGATCACTGTC	0.308000														48			12		7.03913e-09	8.30711e-09	1	1	0
MATN4	8785	broad.mit.edu	37	20	43926995	43926995	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:43926995G>A	uc002xnn.2	-	6	1428	c.1241C>T	c.(1240-1242)gCc>gTc	p.A414V	MATN4_uc002xnp.2_Missense_Mutation_p.A332V|MATN4_uc002xno.2_Missense_Mutation_p.A373V|MATN4_uc010zwr.1_Missense_Mutation_p.A362V|MATN4_uc002xnr.1_Missense_Mutation_p.A414V	NM_003833	NP_003824	O95460	MATN4_HUMAN	Homo sapiens matrilin 4 (MATN4), transcript variant 1, mRNA.	455	VWFA 2.					extracellular region	protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				GTACTCCACGGCCAGGACCGC	0.697000														20			17		0	0	1	0	0
EGFLAM	133584	broad.mit.edu	37	5	38435283	38435283	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:38435283C>T	uc003jlc.2	+	15	2557	c.2211C>T	c.(2209-2211)ggC>ggT	p.G737G	EGFLAM_uc003jlb.2_Silent_p.G737G|EGFLAM_uc003jle.2_Silent_p.G503G|EGFLAM_uc003jlf.2_Silent_p.G103G	NM_001205301	NP_001192230	Q63HQ2	EGFLA_HUMAN	Homo sapiens EGF-like, fibronectin type III and laminin G domains (EGFLAM), transcript variant 5, mRNA.	737	Laminin G-like 2.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					TTTTCATTGGCGGAGTCCCCA	0.423000														38			30		0	0	1	0	0
RAD54L	8438	broad.mit.edu	37	1	46740290	46740290	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:46740290G>A	uc001cpl.2	+	15	2481	c.1770G>A	c.(1768-1770)atG>atA	p.M590I	RAD54L_uc009vye.2_Missense_Mutation_p.M590I	NM_003579	NP_003570	Q92698	RAD54_HUMAN	Homo sapiens RAD54-like (S. cerevisiae) (RAD54L), transcript variant 1, mRNA.	590	Helicase C-terminal.				meiosis	nucleus	ATP binding|DNA binding|helicase activity			breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		GGCTGGTCATGTTTGACCCTG	0.537000								Direct reversal of damage;Homologous recombination						37			30		0	0	1	0	0
ERBB4	2066	broad.mit.edu	37	2	212293204	212293204	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:212293204G>A	uc002veg.1	-	21	2746	c.2648C>T	c.(2647-2649)cCa>cTa	p.P883L	ERBB4_uc002veh.1_Missense_Mutation_p.P883L|ERBB4_uc010zji.1_Missense_Mutation_p.P873L|ERBB4_uc010zjj.1_Missense_Mutation_p.P873L	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	Homo sapiens v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian) (ERBB4), transcript variant JM-a/CVT-1, mRNA.	883	Protein kinase.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	p.P883L(2)|p.M882I(1)		NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		CCATTTAATTGGCATCTATAG	0.328000										TSP Lung(8;0.080)				25			28		0	0	1	0	0
ATAD5	79915	broad.mit.edu	37	17	29221637	29221637	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:29221637C>T	uc002hfs.1	+	21	5696	c.5353C>T	c.(5353-5355)Ctc>Ttc	p.L1785F		NM_024857	NP_079133	Q96QE3	ATAD5_HUMAN	Homo sapiens ATPase family, AAA domain containing 5 (ATAD5), mRNA.	1785					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				TCGATCTCTTCTCTATGTGGG	0.338000														35			23		0	0	1	0	0
NOTCH1	4851	broad.mit.edu	37	9	139395022	139395022	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:139395022G>A	uc004chz.3	-	30	5916	c.5916C>T	c.(5914-5916)gaC>gaT	p.D1972D		NM_017617	NP_060087	P46531	NOTC1_HUMAN	Homo sapiens notch 1 (NOTCH1), mRNA.	1972					Notch receptor processing|aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CACCTTGTGCGTCGGCAGACA	0.677000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)				59			36		0	0	1	0	0
ASH1L	55870	broad.mit.edu	37	1	155449532	155449532	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155449532T>C	uc009wqq.3	-	2	3609	c.3129A>G	c.(3127-3129)ggA>ggG	p.G1043G	ASH1L_uc001fkt.3_Silent_p.G1043G|ASH1L_uc009wqr.1_Silent_p.G1043G	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	Homo sapiens ash1 (absent, small, or homeotic)-like (Drosophila) (ASH1L), mRNA.	1043					DNA packaging|cell-cell signaling|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|chromosome|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	p.G1043R(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			TATAAATGGTTCCTTTCTTGC	0.398000														75			15		0	0	1	0	0
SLTM	79811	broad.mit.edu	37	15	59179566	59179566	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:59179566C>T	uc002afp.3	-	17	2637	c.2549G>A	c.(2548-2550)cGa>cAa	p.R850Q	SLTM_uc002afn.3_Missense_Mutation_p.R392Q|SLTM_uc002afo.3_Missense_Mutation_p.R832Q|SLTM_uc002afq.3_Missense_Mutation_p.R419Q|SLTM_uc010bgd.3_Missense_Mutation_p.R419Q	NM_024755	NP_079031	Q9NWH9	SLTM_HUMAN	Homo sapiens SAFB-like, transcription modulator (SLTM), transcript variant 1, mRNA.	850	Arg/Glu-rich.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CCTTTCGTCTCGCTCCCCTCG	0.493000														72			8		0	0	1	0	0
CAMSAP2	23271	broad.mit.edu	37	1	200730022	200730022	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:200730022A>G	uc001gvl.3	+	1	465	c.195A>G	c.(193-195)gaA>gaG	p.E65E	CAMSAP2_uc001gvk.3_Silent_p.E65E|CAMSAP2_uc001gvm.3_Silent_p.E65E	NM_203459	NP_982284	Q08AD1	CAMP2_HUMAN	Homo sapiens calmodulin regulated spectrin-associated protein family, member 2 (CAMSAP2), mRNA.	65						cytoplasm|microtubule	protein binding										ATGACCAGGAACACATCAAAC	0.373000														160			9		0	0	1	0	0
SARS2	54938	broad.mit.edu	37	19	39406518	39406518	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:39406518C>T	uc010xup.1	-	15	1542	c.1382G>A	c.(1381-1383)cGc>cAc	p.R461H	SARS2_uc002ojz.2_Missense_Mutation_p.R269H|SARS2_uc002oka.2_Missense_Mutation_p.R459H|SARS2_uc010xuq.1_Missense_Mutation_p.R459H	NM_001145901	NP_001139373	Q9NP81	SYSM_HUMAN	Homo sapiens seryl-tRNA synthetase 2, mitochondrial (SARS2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	459					seryl-tRNA aminoacylation	mitochondrial matrix	ATP binding|protein binding|serine-tRNA ligase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(60;2.74e-06)|all_epithelial(25;4.36e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			GATGAGAAGGCGGGGGACAGC	0.687000														62			21		0	0	1	0	0
OR4C15	81309	broad.mit.edu	37	11	55321995	55321995	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:55321995G>T	uc010rig.2	+	0	213	c.213G>T	c.(211-213)caG>caT	p.Q71H		NM_001001920	NP_001001920	Q8NGM1	OR4CF_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 15 (OR4C15), mRNA.	17					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						GACTTTCACAGAATCCAAATG	0.403000										HNSCC(20;0.049)				115			62		1.93748e-29	2.55384e-29	1	1	0
SYNJ2BP-COX16	100529257	broad.mit.edu	37	14	70842480	70842480	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:70842480G>T	uc021rvn.1	-	2	337	c.210C>A	c.(208-210)ggC>ggA	p.G70G	SYNJ2BP-COX16_uc021rvm.1_Silent_p.G70G|SYNJ2BP-COX16_uc021rvo.1_Silent_p.G70G|SYNJ2BP-COX16_uc001xmc.4_Silent_p.G70G	NM_001202547	NP_001189476			Homo sapiens SYNJ2BP-COX16 readthrough (SYNJ2BP-COX16), transcript variant 1, mRNA.																		TTAGGTCTTGGCCATTTACCT	0.413000														66			34		7.11191e-15	8.93066e-15	1	1	0
CDC25B	994	broad.mit.edu	37	20	3778368	3778368	+	Silent	SNP	G	A	A	rs147311787	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:3778368G>A	uc002wjn.3	+	1	1078	c.300G>A	c.(298-300)tcG>tcA	p.S100S	CDC25B_uc010zqk.2_Silent_p.S36S|CDC25B_uc010zql.2_Silent_p.S22S|CDC25B_uc010zqm.2_Silent_p.S36S|CDC25B_uc002wjl.3_5'UTR|CDC25B_uc002wjm.3_5'UTR|CDC25B_uc021waa.1_5'UTR|CDC25B_uc002wjo.3_Silent_p.S86S|CDC25B_uc002wjp.3_Silent_p.S100S|CDC25B_uc002wjq.3_5'Flank	NM_021873	NP_068659	P30305	MPIP2_HUMAN	Homo sapiens cell division cycle 25 homolog B (S. pombe) (CDC25B), transcript variant 1, mRNA.	100					G2/M transition of mitotic cell cycle|cell division|mitosis|positive regulation of cell proliferation	cytosol|microtubule organizing center|nucleoplasm	protein binding|protein tyrosine phosphatase activity			NS(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(1)	18						CCTCCCTGTCGTCTGAATCCT	0.627000														74			54		0	0	1	0	0
RETSAT	54884	broad.mit.edu	37	2	85570391	85570391	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:85570391T>C	uc002spd.3	-	10	1998	c.1807A>G	c.(1807-1809)Atc>Gtc	p.I603V	RETSAT_uc010fge.3_Non-coding_Transcript|RETSAT_uc010ysm.2_Missense_Mutation_p.I542V	NM_017750	NP_060220	Q6NUM9	RETST_HUMAN	Homo sapiens retinol saturase (all-trans-retinol 13,14-reductase) (RETSAT), mRNA.	603					retinol metabolic process	endoplasmic reticulum membrane|nuclear outer membrane	all-trans-retinol 13,14-reductase activity|electron carrier activity			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30					Vitamin A(DB00162)	TGTGCCCGGATCCTAGAATCA	0.522000														46			5		0	0	1	0	0
LMBR1	64327	broad.mit.edu	37	7	156549115	156549115	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:156549115C>A	uc010lqn.3	-	8	944	c.729G>T	c.(727-729)gaG>gaT	p.E243D	LMBR1_uc003wmv.4_Missense_Mutation_p.E91D|LMBR1_uc003wmw.4_Missense_Mutation_p.E243D|LMBR1_uc003wmx.4_Missense_Mutation_p.E91D|LMBR1_uc011kvx.2_Missense_Mutation_p.E222D	NM_022458	NP_071903	Q8WVP7	LMBR1_HUMAN	Homo sapiens limb region 1 homolog (mouse) (LMBR1), mRNA.	243						integral to membrane	receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	18	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.208)		GTGCTTCTTCCTCTAAGGTAA	0.269000														107			25		2.48779e-11	3.03834e-11	1	1	0
MUC16	94025	broad.mit.edu	37	19	9045932	9045932	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9045932G>T	uc002mkp.3	-	4	35903	c.35699C>A	c.(35698-35700)tCt>tAt	p.S11900Y		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	11902	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.S11900F(1)|p.S7533F(1)		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						GGAAAGCCCAGAGACAGCAGG	0.502000														101			12		0.0135373	0.0139797	1	1	0
NPAS2	4862	broad.mit.edu	37	2	101587504	101587504	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:101587504C>T	uc010yvt.1	+	11	1305	c.1303C>T	c.(1303-1305)Cca>Tca	p.P435S	NPAS2_uc002tap.1_Missense_Mutation_p.P370S	NM_002518	NP_002509	Q99743	NPAS2_HUMAN	Homo sapiens neuronal PAS domain protein 2 (NPAS2), mRNA.	370					central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process	transcription factor complex	DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GGAAGACCCGCCATCCGAGGC	0.557000														33			14		0	0	1	0	0
NUCB1	4924	broad.mit.edu	37	19	49422336	49422336	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:49422336T>C	uc002plb.4	+	8	1200	c.866T>C	c.(865-867)aTg>aCg	p.M289T	NUCB1_uc002pla.3_Missense_Mutation_p.M289T|Mir_324_uc021uxc.1_5'Flank|NUCB1_uc002pld.3_5'UTR	NM_006184	NP_006175	Q02818	NUCB1_HUMAN	Homo sapiens nucleobindin 1 (NUCB1), mRNA.	289	Binds to GNAI2 and GNAI3 (By similarity).					ER-Golgi intermediate compartment|Golgi apparatus|extracellular space|membrane|microtubule cytoskeleton	DNA binding|calcium ion binding	p.M289I(1)		cervix(1)|endometrium(4)|large_intestine(4)|lung(8)	17		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000171)|all cancers(93;0.000333)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0244)		ATGCGGGAGATGGAGGAGGAG	0.617000														29			4		0	0	1	0	0
CKMT1A	548596	broad.mit.edu	37	15	43991225	43991225	+	Missense_Mutation	SNP	C	T	T	rs148934583		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:43991225C>T	uc001zsn.3	+	9	1584	c.1192C>T	c.(1192-1194)Cgg>Tgg	p.R398W	CKMT1A_uc010uea.2_Missense_Mutation_p.R429W	NM_001015001	NP_066270	P12532	KCRU_HUMAN	Homo sapiens creatine kinase, mitochondrial 1A (CKMT1A), nuclear gene encoding mitochondrial protein, mRNA.	398	Phosphagen kinase C-terminal.				creatine metabolic process	mitochondrial inner membrane	ATP binding|creatine kinase activity			lung(4)	4		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)	Creatine(DB00148)	TGATTGTGAACGGCGTCTGGA	0.493000														96			42		0	0	1	0	0
PRMT3	10196	broad.mit.edu	37	11	20417380	20417380	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:20417380A>G	uc001mqb.3	+	5	649	c.432A>G	c.(430-432)gtA>gtG	p.V144V	PRMT3_uc001mqc.3_Silent_p.V67V|PRMT3_uc010rdn.2_Silent_p.V82V	NM_005788	NP_005779	O60678	ANM3_HUMAN	Homo sapiens protein arginine methyltransferase 3 (PRMT3), transcript variant 1, mRNA.	144							zinc ion binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|prostate(1)	17						CGGTGTCAGTACCCTTCTCAT	0.373000														45			29		0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38835327	38835327	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:38835327C>A	uc003ciq.3	-	0	175	c.175G>T	c.(175-177)Gcc>Tcc	p.A59S		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	59					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TGGTTGCAGGCTTTCAAGTCC	0.552000														66			51		1.35964e-18	1.74534e-18	1	1	0
C10orf12	26148	broad.mit.edu	37	10	98741496	98741496	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:98741496G>A	uc001kmv.3	+	0	456	c.349G>A	c.(349-351)Ggc>Agc	p.G117S	C10orf12_uc009xvg.2_Missense_Mutation_p.G427S	NM_015652	NP_056467	Q8N655	CJ012_HUMAN	Homo sapiens chromosome 10 open reading frame 12 (C10orf12), mRNA.	117										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		GTTAGGCCCCGGCCCTATGCC	0.473000														40			27		0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1281235	1281235	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:1281235G>A	uc001lta.3	+	45	16902	c.16843G>A	c.(16843-16845)Gtg>Atg	p.V5615M		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	5615					cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CAACTGCACCGTGTACCTCTG	0.577000														60			35		0	0	1	0	0
RSPH1	89765	broad.mit.edu	37	21	43913094	43913094	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:43913094G>A	uc002zbg.3	-	1	255	c.150C>T	c.(148-150)ttC>ttT	p.F50F		NM_080860	NP_543136	Q8WYR4	RSPH1_HUMAN	Homo sapiens radial spoke head 1 homolog (Chlamydomonas) (RSPH1), mRNA.	50					meiosis	cytosol|nucleus				large_intestine(7)|lung(2)|ovary(1)|prostate(1)|stomach(1)	12						GTCTTTTACCGAATTCGTAGC	0.507000														140			95		0	0	1	0	0
ZMYM5	9205	broad.mit.edu	37	13	20398892	20398892	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:20398892A>G	uc010tcn.1	-	7	2000	c.1735T>C	c.(1735-1737)Tta>Cta	p.L579L	ZMYM5_uc001umm.1_Silent_p.L403L	NM_001142684	NP_001136156	Q9UJ78	ZMYM5_HUMAN	Homo sapiens zinc finger, MYM-type 5 (ZMYM5), transcript variant 3, mRNA.	579						nucleus	zinc ion binding			kidney(1)|large_intestine(5)|lung(9)	15		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)		gaataaagtaaccaggatcta	0.323000														6			4		0	0	1	0	0
SARS	6301	broad.mit.edu	37	1	109778673	109778673	+	Silent	SNP	A	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:109778673A>T	uc001dwu.2	+	7	1144	c.1044A>T	c.(1042-1044)gcA>gcT	p.A348A		NM_006513	NP_006504	P49591	SYSC_HUMAN	Homo sapiens seryl-tRNA synthetase (SARS), transcript variant 1, mRNA.	348					seryl-tRNA aminoacylation|tRNA processing	cytosol	ATP binding|RNA binding|protein binding|serine-tRNA ligase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	17		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0301)|Lung(183;0.0677)|COAD - Colon adenocarcinoma(174;0.116)|Epithelial(280;0.233)	L-Serine(DB00133)	TTACCACCGCAGAGGAGTTCT	0.493000														68			38		0	0	1	0	0
SCN2A	6326	broad.mit.edu	37	2	166179943	166179943	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:166179943G>A	uc002udc.3	+	11	2239	c.1949G>A	c.(1948-1950)tGc>tAc	p.C650Y	SCN2A_uc002udd.3_Missense_Mutation_p.C650Y|SCN2A_uc002ude.3_Missense_Mutation_p.C650Y	NM_001040142	NP_066287	Q99250	SCN2A_HUMAN	Homo sapiens sodium channel, voltage-gated, type II, alpha subunit (SCN2A), transcript variant 2, mRNA.	650					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	GCTGTGGACTGCAATGGTGTG	0.592000														23			11		0	0	1	0	0
ATE1	11101	broad.mit.edu	37	10	123596249	123596249	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:123596249G>T	uc001lfp.3	-	9	1323	c.1241C>A	c.(1240-1242)cCc>cAc	p.P414H	ATE1_uc001lfq.3_Missense_Mutation_p.P414H|ATE1_uc010qtr.2_Missense_Mutation_p.P299H|ATE1_uc010qts.2_Missense_Mutation_p.P318H|ATE1_uc010qtt.2_Missense_Mutation_p.P407H|ATE1_uc001lfr.3_Missense_Mutation_p.P115H|ATE1_uc009xzu.3_Non-coding_Transcript	NM_007041	NP_008972	O95260	ATE1_HUMAN	Homo sapiens arginyltransferase 1 (ATE1), transcript variant 2, mRNA.	414					protein arginylation	cytoplasm|nucleus	acyltransferase activity|arginyltransferase activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212)				TTTCATCTTGGGACATGAATG	0.308000														58			5		0.000602214	0.000641151	1	1	0
ZBTB2	57621	broad.mit.edu	37	6	151694680	151694680	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:151694680G>A	uc003qoh.3	-	1	228	c.93C>T	c.(91-93)ggC>ggT	p.G31G		NM_020861	NP_065912	Q8N680	ZBTB2_HUMAN	Homo sapiens zinc finger and BTB domain containing 2 (ZBTB2), mRNA.	31	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.I30I(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(6)|skin(1)	12			BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.63e-11)		AGTATACATCGCCGATTGCAA	0.408000														58			37		0	0	1	0	0
MCM9	254394	broad.mit.edu	37	6	119232882	119232882	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:119232882G>A	uc021zeh.1	-	5	1098	c.1083C>T	c.(1081-1083)ttC>ttT	p.F361F	MCM9_uc003pyh.3_Silent_p.F361F	NM_017696	NP_060166	Q9NXL9	MCM9_HUMAN	Homo sapiens minichromosome maintenance complex component 9 (MCM9), transcript variant 1, mRNA.	361	MCM.				DNA replication		ATP binding|DNA binding|nucleoside-triphosphatase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_cancers(87;0.122)|all_epithelial(87;0.179)		GBM - Glioblastoma multiforme(226;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.194)		CATATTTGAGGAACTGAGATT	0.373000														42			25		0	0	1	0	0
EZR	7430	broad.mit.edu	37	6	159190828	159190828	+	Silent	SNP	G	A	A	rs145874025		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:159190828G>A	uc003qrt.4	-	9	1454	c.1239C>T	c.(1237-1239)agC>agT	p.S413S	EZR_uc011efr.2_Silent_p.S20S|EZR_uc011efs.2_Silent_p.S381S|EZR_uc003qru.4_Silent_p.S413S	NM_003379	NP_003370	P15311	EZRI_HUMAN	Homo sapiens ezrin (EZR), transcript variant 1, mRNA.	413	Interaction with SCYL3.				actin filament bundle assembly|axon guidance|cytoskeletal anchoring at plasma membrane|leukocyte cell-cell adhesion|membrane to membrane docking|regulation of cell shape	actin filament|apical plasma membrane|basolateral plasma membrane|cortical cytoskeleton|cytosol|extrinsic to membrane|filopodium|microvillus membrane|nucleolus|ruffle membrane	actin filament binding|cell adhesion molecule binding		EZR/ROS1(4)	breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	15		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06)		GCTGCTCCTGGCTCTTTATCT	0.542000			T	ROS1	NSCLC									94			37		0	0	1	0	0
KIF13A	63971	broad.mit.edu	37	6	17850612	17850612	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:17850612C>T	uc003ncg.4	-	7	819	c.659G>A	c.(658-660)cGc>cAc	p.R220H	KIF13A_uc003ncf.3_Missense_Mutation_p.R220H|KIF13A_uc003nch.4_Missense_Mutation_p.R220H|KIF13A_uc003nci.4_Missense_Mutation_p.R220H	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	Homo sapiens kinesin family member 13A (KIF13A), transcript variant 1, mRNA.	220	Kinesin-motor.				Golgi to plasma membrane protein transport|cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			AGCATGGGAGCGGCTGCTTTC	0.468000														30			21		0	0	1	0	0
RNF135	84282	broad.mit.edu	37	17	29325990	29325990	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:29325990G>T	uc002hfz.3	+	4	1216	c.1080G>T	c.(1078-1080)tgG>tgT	p.W360C	RNF135_uc010csm.3_3'UTR|RNF135_uc002hga.3_3'UTR|RNF135_uc002hgb.3_3'UTR	NM_032322	NP_115698	Q8IUD6	RN135_HUMAN	Homo sapiens ring finger protein 135 (RNF135), transcript variant 1, mRNA.	360	B30.2/SPRY.				innate immune response|negative regulation of type I interferon production|positive regulation of interferon-beta production|regulation of innate immune response	cytosol	protein binding|ribonucleoprotein binding|ubiquitin-protein ligase activity|zinc ion binding	p.?(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(1)|skin(2)|urinary_tract(1)	10		all_cancers(10;8.65e-08)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Myeloproliferative disorder(56;0.0255)				TCTCTGCATGGCACATGGTCA	0.562000														37			18		1.40151e-16	1.77771e-16	1	1	0
EBF1	1879	broad.mit.edu	37	5	158158077	158158077	+	Splice_Site	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:158158077C>A	uc010jip.3	-	11	1427	c.1125_splice	c.e11+1	p.K375_splice	EBF1_uc011ddw.2_Splice_Site_p.K243_splice|EBF1_uc011ddx.2_Splice_Site_p.K376_splice|EBF1_uc003lxl.4_Splice_Site_p.K344_splice	NM_024007	NP_076870	Q9UH73	COE1_HUMAN	Homo sapiens early B-cell factor 1 (EBF1), mRNA.	375					multicellular organismal development	nucleus	DNA binding|metal ion binding		HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GTATCCTCACCTTTGGCAAAC	0.443000			T	HMGA2	lipoma									27			4		0.014758	0.0151755	1	1	0
ABCA10	10349	broad.mit.edu	37	17	67197727	67197727	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:67197727G>T	uc010dfa.1	-	10	1968	c.1089C>A	c.(1087-1089)atC>atA	p.I363I	ABCA10_uc010wqt.1_Non-coding_Transcript|ABCA10_uc010dfb.1_5'UTR|ABCA10_uc010dfc.1_Intron	NM_080282	NP_525021	Q8WWZ4	ABCAA_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 10 (ABCA10), mRNA.	363					transport	integral to membrane	ATP binding|ATPase activity	p.I363I(2)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					CATTCTCAAAGATTTCATGAT	0.338000														56			26		7.92952e-12	9.72855e-12	1	1	0
GIGYF2	26058	broad.mit.edu	37	2	233710533	233710533	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:233710533G>T	uc002vtj.4	+	27	3727	c.3460G>T	c.(3460-3462)Gat>Tat	p.D1154Y	GIGYF2_uc002vti.4_Missense_Mutation_p.D1133Y|GIGYF2_uc002vtk.4_Missense_Mutation_p.D1133Y|GIGYF2_uc002vth.4_Missense_Mutation_p.D1127Y|GIGYF2_uc010zmk.2_Intron|GIGYF2_uc002vtq.4_Missense_Mutation_p.D466Y	NM_001103147	NP_001096617	Q6Y7W6	PERQ2_HUMAN	Homo sapiens GRB10 interacting GYF protein 2 (GIGYF2), transcript variant 1, mRNA.	1133					cell death		protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		TAAAGCCCAAGATGGATTTAC	0.423000														53			32		6.04164e-23	7.85999e-23	1	1	0
BCS1L	617	broad.mit.edu	37	2	219527966	219527966	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:219527966G>A	uc002vip.3	+	8	1463	c.1117G>A	c.(1117-1119)Gca>Aca	p.A373T	BCS1L_uc002viq.3_Missense_Mutation_p.A373T|BCS1L_uc010fvu.3_Missense_Mutation_p.A373T|BCS1L_uc010fvv.3_Missense_Mutation_p.A373T|BCS1L_uc002vis.3_Missense_Mutation_p.A373T|BCS1L_uc021vwz.1_Missense_Mutation_p.A373T	NM_004328	NP_004319	Q9Y276	BCS1_HUMAN	Homo sapiens BCS1-like (S. cerevisiae) (BCS1L), transcript variant 1, mRNA.	373					mitochondrial respiratory chain complex I assembly|mitochondrial respiratory chain complex III assembly|mitochondrial respiratory chain complex IV assembly	integral to membrane|mitochondrial respiratory chain complex III	ATP binding|nucleoside-triphosphatase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	8		Renal(207;0.0474)		Epithelial(149;7.12e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCCAGGGCAGGCACCTTCCTT	0.542000														36			22		0	0	1	0	0
XIRP1	165904	broad.mit.edu	37	3	39227602	39227602	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:39227602C>T	uc003cjk.2	-	1	3564	c.3335G>A	c.(3334-3336)cGg>cAg	p.R1112Q	XIRP1_uc003cji.3_Missense_Mutation_p.R1112Q|XIRP1_uc003cjj.3_Intron|XIRP1_uc021wvz.1_Missense_Mutation_p.R1112Q	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	Homo sapiens xin actin-binding repeat containing 1 (XIRP1), transcript variant 1, mRNA.	1112							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		TGCTGGGATCCGGGGATCACT	0.612000														41			23		0	0	1	0	0
PHB2	11331	broad.mit.edu	37	12	7077078	7077078	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:7077078G>T	uc021quf.1	-	4	794	c.584C>A	c.(583-585)gCt>gAt	p.A195D	PHB2_uc021qug.1_Missense_Mutation_p.A195D|PHB2_uc010sft.1_Missense_Mutation_p.A195D|PHB2_uc010sfu.1_Missense_Mutation_p.A195D|SCARNA12_uc001qsg.3_5'Flank	NM_007273	NP_001138303	Q99623	PHB2_HUMAN	Homo sapiens prohibitin 2 (PHB2), transcript variant 2, mRNA.	195					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial inner membrane|nucleus	estrogen receptor binding|receptor activity			ovary(2)|pancreas(1)	3						TTCTACAGCAGCTGTGTACTC	0.582000														200			16		1.99824e-07	2.30332e-07	1	1	0
HSPB11	51668	broad.mit.edu	37	1	54395798	54395798	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:54395798G>A	uc001cwh.3	-	2	195	c.119C>T	c.(118-120)aCc>aTc	p.T40I	HSPB11_uc001cwi.1_Missense_Mutation_p.T40I	NM_016126	NP_057210	Q9Y547	HSB11_HUMAN	Homo sapiens heat shock protein family B (small), member 11 (HSPB11), mRNA.	40					cell adhesion|response to stress					breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	9						TCCTGTGGTGGTCCAAAACGT	0.294000														58			35		0	0	1	0	0
C14orf93	60686	broad.mit.edu	37	14	23468166	23468166	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:23468166C>T	uc001wib.2	-	1	377	c.67G>A	c.(67-69)Gcc>Acc	p.A23T	C14orf93_uc001wic.2_Intron|C14orf93_uc001wig.3_Missense_Mutation_p.A23T|C14orf93_uc001wih.3_Missense_Mutation_p.A23T|C14orf93_uc001wie.3_Missense_Mutation_p.A23T|C14orf93_uc001wia.4_Missense_Mutation_p.A23T|C14orf93_uc001wif.3_Intron	NM_021944	NP_068763	Q9H972	CN093_HUMAN	Homo sapiens chromosome 14 open reading frame 93 (C14orf93), transcript variant 1, mRNA.	23	Poly-Cys.					extracellular region				kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	17	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.0127)		CTCTTACAGGCGCAGCAGCAG	0.587000														53			30		0	0	1	0	0
RNF2	6045	broad.mit.edu	37	1	185067376	185067376	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:185067376G>T	uc001grc.1	+	4	870	c.637G>T	c.(637-639)Gca>Tca	p.A213S	RNF2_uc001grd.1_Missense_Mutation_p.A141S	NM_007212	NP_009143	Q99496	RING2_HUMAN	Homo sapiens ring finger protein 2 (RNF2), mRNA.	213					histone H2A monoubiquitination|transcription, DNA-dependent	MLL1 complex|PcG protein complex|ubiquitin ligase complex	RING-like zinc finger domain binding|zinc ion binding			breast(3)|endometrium(2)|large_intestine(4)|lung(3)|skin(2)	14		Breast(1374;0.000496)		Colorectal(1306;6.9e-08)|KIRC - Kidney renal clear cell carcinoma(1967;8.12e-06)		TAACAATGCAGCAATGGCAAT	0.428000														45			45		8.01111e-26	1.04961e-25	1	1	0
SGSM2	9905	broad.mit.edu	37	17	2274584	2274584	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:2274584C>A	uc002fum.4	+	12	1629	c.1452C>A	c.(1450-1452)ggC>ggA	p.G484G	SGSM2_uc002fun.4_Silent_p.G439G|SGSM2_uc010vqw.2_Silent_p.G439G|SGSM2_uc002fuo.2_Silent_p.G27G	NM_014853	NP_055668	O43147	SGSM2_HUMAN	Homo sapiens small G protein signaling modulator 2 (SGSM2), transcript variant 1, mRNA.	439						intracellular	Rab GTPase activator activity			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)		AGATGCAGGGCTTTGGGCCCA	0.662000														12			7		0.27861	0.27975	1	1	0
ZNF629	23361	broad.mit.edu	37	16	30794144	30794144	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:30794144A>G	uc002dzs.1	-	2	1713	c.1505T>C	c.(1504-1506)aTt>aCt	p.I502T		NM_001080417	NP_001073886	Q9UEG4	ZN629_HUMAN	Homo sapiens zinc finger protein 629 (ZNF629), mRNA.	502					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22			Colorectal(24;0.198)			GACGTGGGTAATAAGGTTGGA	0.637000														43			48		0	0	1	0	0
LTK	4058	broad.mit.edu	37	15	41797698	41797698	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:41797698A>C	uc001zoa.3	-	13	1906	c.1728T>G	c.(1726-1728)tgT>tgG	p.C576W	LTK_uc001zob.3_Missense_Mutation_p.C515W|LTK_uc010ucx.1_Missense_Mutation_p.C446W|LTK_uc010bcg.2_Missense_Mutation_p.C274W	NM_002344	NP_002335	P29376	LTK_HUMAN	Homo sapiens leukocyte receptor tyrosine kinase (LTK), transcript variant 1, mRNA.	576	Protein kinase.				apoptosis|cell proliferation|phosphatidylinositol 3-kinase cascade|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1)	26		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		TGAGCCCCACACACCGCACAA	0.577000										TSP Lung(18;0.14)				23			6		0	0	1	0	0
LIN54	132660	broad.mit.edu	37	4	83905840	83905840	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:83905840G>T	uc003hnx.3	-	1	536	c.158C>A	c.(157-159)aCt>aAt	p.T53N	LIN54_uc003hnz.3_Intron|LIN54_uc003hny.3_Intron|LIN54_uc010ijt.2_Missense_Mutation_p.T53N|LIN54_uc010iju.2_5'UTR|LIN54_uc010ijv.2_Intron	NM_194282	NP_919258	Q6MZP7	LIN54_HUMAN	Homo sapiens lin-54 homolog (C. elegans) (LIN54), transcript variant 1, mRNA.	53					cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)	14		Hepatocellular(203;0.114)				AGAGTCACCAGTAGAATTTAT	0.408000														44			39		2.19358e-23	2.85789e-23	1	1	0
DNAH11	8701	broad.mit.edu	37	7	21631042	21631042	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:21631042G>T	uc003svc.3	+	13	2545	c.2514G>T	c.(2512-2514)caG>caT	p.Q838H		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	838	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.I837F(1)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AGGTGATCCAGCAGACCATGA	0.582000									Kartagener syndrome					31			38		8.73648e-17	1.10906e-16	1	1	0
PTPRJ	5795	broad.mit.edu	37	11	48166412	48166412	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:48166412A>C	uc001ngp.4	+	12	3116	c.2761A>C	c.(2761-2763)Aag>Cag	p.K921Q		NM_002843	NP_002834	Q12913	PTPRJ_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, J (PTPRJ), transcript variant 1, mRNA.	921				YNGKLEPLGSYR -> LQWEAGTSGLLP (in Ref. 2; BAA07035).	contact inhibition|negative regulation of MAP kinase activity|negative regulation of T cell receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						TTACAATGGGAAGCTGGAACC	0.458000														132			6		0	0	1	0	0
KRT1	3848	broad.mit.edu	37	12	53074048	53074048	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:53074048G>A	uc001sau.1	-	0	144	c.85C>T	c.(85-87)Cgc>Tgc	p.R29C	KRT1_uc001sav.1_Missense_Mutation_p.R29C	NM_006121	NP_006112	P04264	K2C1_HUMAN	Homo sapiens keratin 1 (KRT1), mRNA.	29	Gly/Phe/Ser-rich.|Head.				complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress	plasma membrane	protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						GTGGTCCTGCGCTGGTAGTTG	0.557000														60			8		0	0	1	0	0
CLSPN	63967	broad.mit.edu	37	1	36205109	36205109	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:36205109C>A	uc001bzi.3	-	18	3245	c.3165G>T	c.(3163-3165)gaG>gaT	p.E1055D	CLSPN_uc009vux.3_Missense_Mutation_p.E991D	NM_022111	NP_071394	Q9HAW4	CLSPN_HUMAN	Homo sapiens claspin (CLSPN), transcript variant 1, mRNA.	1055					DNA repair|DNA replication|G2/M transition DNA damage checkpoint|activation of protein kinase activity|cell cycle|cellular component disassembly involved in apoptosis|mitotic cell cycle DNA replication checkpoint|peptidyl-serine phosphorylation	nucleoplasm	DNA binding|anaphase-promoting complex binding			NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CTGCCTCATCCTCCAGGTATT	0.398000														90			8		0.00621372	0.00645399	1	1	0
KIAA0513	9764	broad.mit.edu	37	16	85100902	85100902	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:85100902C>T	uc002fiu.3	+	1	445	c.225C>T	c.(223-225)aaC>aaT	p.N75N	KIAA0513_uc010voj.2_Silent_p.N75N|KIAA0513_uc002fit.3_Silent_p.N75N	NM_014732	NP_055547	O60268	K0513_HUMAN	Homo sapiens KIAA0513 (KIAA0513), mRNA.	75						cytoplasm				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(9)|pancreas(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.234)		CCTCCTCCAACGAGTCCTTCT	0.587000														51			5		0	0	1	0	0
FANCB	2187	broad.mit.edu	37	X	14863291	14863291	+	Silent	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:14863291T>G	uc004cwg.1	-	7	1882	c.1614A>C	c.(1612-1614)ccA>ccC	p.P538P	FANCB_uc004cwh.1_Silent_p.P538P	NM_001018113	NP_689846	Q8NB91	FANCB_HUMAN	Homo sapiens Fanconi anemia, complementation group B (FANCB), transcript variant 1, mRNA.	538					DNA repair	nucleoplasm				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24	Hepatocellular(33;0.183)					GCATCAAGTATGGTGCTGGGA	0.408000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia					103			58		0	0	1	0	0
USP44	84101	broad.mit.edu	37	12	95927508	95927508	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:95927508C>T	uc001teg.3	-	1	669	c.525G>A	c.(523-525)aaG>aaA	p.K175K	USP44_uc001teh.3_Silent_p.K175K|USP44_uc009zte.3_Silent_p.K172K	NM_001042403	NP_115523	Q9H0E7	UBP44_HUMAN	Homo sapiens ubiquitin specific peptidase 44 (USP44), transcript variant 2, mRNA.	175					anaphase|cell division|mitosis|negative regulation of mitotic anaphase-promoting complex activity|protein deubiquitination|regulation of spindle checkpoint|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(5)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	36						GTTCTTCTTGCTTTTTTCTTC	0.363000														50			21		0	0	1	0	0
ZNF665	79788	broad.mit.edu	37	19	53668654	53668654	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:53668654C>A	uc010eqm.1	-	3	1189	c.1089G>T	c.(1087-1089)aaG>aaT	p.K363N		NM_024733	NP_079009	Q9H7R5	ZN665_HUMAN	Homo sapiens zinc finger protein 665 (ZNF665), mRNA.	298					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E362Q(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		TTCGCCGATGCTTTGCAAGGT	0.418000														56			9		3.07112e-06	3.45634e-06	1	1	0
H2AFY	9555	broad.mit.edu	37	5	134679121	134679121	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:134679121G>A	uc003lam.1	-	7	992	c.782C>T	c.(781-783)gCt>gTt	p.A261V	AK026965_uc003laj.1_Non-coding_Transcript|H2AFY_uc003lal.1_Non-coding_Transcript|H2AFY_uc003lao.1_Missense_Mutation_p.A260V|H2AFY_uc003lan.1_Missense_Mutation_p.A258V|H2AFY_uc011cxz.1_Missense_Mutation_p.A89V|H2AFY_uc003las.1_Missense_Mutation_p.A261V|H2AFY_uc003lat.1_Missense_Mutation_p.A260V	NM_138610	NP_613258	O75367	H2AY_HUMAN	Homo sapiens H2A histone family, member Y (H2AFY), transcript variant 3, mRNA.	261	Macro.				chromatin modification|dosage compensation|nucleosome assembly	Barr body|nucleosome	DNA binding			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TGCGCTGACAGCAGCTAGTGG	0.517000														42			41		0	0	1	0	0
ANKH	56172	broad.mit.edu	37	5	14713083	14713083	+	Splice_Site	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:14713083C>A	uc003jfm.4	-	11	1597	c.1266_splice	c.e11-1	p.G422_splice		NM_054027	NP_473368	Q9HCJ1	ANKH_HUMAN	Homo sapiens ankylosis, progressive homolog (mouse) (ANKH), mRNA.	422					locomotory behavior|regulation of bone mineralization|skeletal system development	integral to plasma membrane|outer membrane	inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						ACCGTGCACCCTGCAGATGAG	0.577000														6			7		1	1	1	1	0
C1orf116	79098	broad.mit.edu	37	1	207200840	207200840	+	Splice_Site	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:207200840G>T	uc001hfd.2	-	2	364	c.105_splice	c.e2+1	p.S35_splice	C1orf116_uc009xcb.1_Intron	NM_023938	NP_001077393	Q9BW04	SARG_HUMAN	Homo sapiens chromosome 1 open reading frame 116 (C1orf116), transcript variant 1, mRNA.	35						cytoplasm|plasma membrane	receptor activity	p.S35F(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(4)|stomach(1)	29	Prostate(682;0.19)					ATTACGTACAGATCCAGAGCG	0.637000														72			6		5.9392e-07	6.7814e-07	1	1	0
NMUR2	56923	broad.mit.edu	37	5	151784197	151784197	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:151784197G>A	uc003luv.2	-	0	644	c.478C>T	c.(478-480)Cgg>Tgg	p.R160W		NM_020167	NP_064552	Q9GZQ4	NMUR2_HUMAN	Homo sapiens neuromedin U receptor 2 (NMUR2), mRNA.	160					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			GCCCGGCGCCGGGTGCTCTGC	0.632000														36			18		0	0	1	0	0
VTI1B	10490	broad.mit.edu	37	14	68118192	68118192	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:68118192T>C	uc001xjt.3	-	5	1005	c.609A>G	c.(607-609)acA>acG	p.T203T	ARG2_uc001xjs.3_3'UTR|VTI1B_uc010aqp.3_Silent_p.T142T|VTI1B_uc001xju.3_Silent_p.T162T	NM_006370	NP_006361	Q9UEU0	VTI1B_HUMAN	Homo sapiens vesicle transport through interaction with t-SNAREs homolog 1B (yeast) (VTI1B), mRNA.	203					cell proliferation|cellular membrane fusion|intracellular protein transport|vesicle docking involved in exocytosis	endomembrane system|integral to membrane				endometrium(1)|large_intestine(2)|stomach(1)|upper_aerodigestive_tract(1)	5				all cancers(60;0.000344)|OV - Ovarian serous cystadenocarcinoma(108;0.00212)|BRCA - Breast invasive adenocarcinoma(234;0.00941)		GCTTGTTGGTTGTCACTCTAC	0.458000														19			15		0	0	1	0	0
CEP170P1	645455	broad.mit.edu	37	4	119474992	119474992	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:119474992G>A	uc003icb.3	+	7	703	c.619G>A	c.(619-621)Gga>Aga	p.G207R						Homo sapiens centrosomal protein 170kDa pseudogene 1 (CEP170P1), non-coding RNA.																		TGATCCTGATGGAACTTTGGA	0.438000														1			5		0	0	1	0	0
PBK	55872	broad.mit.edu	37	8	27668569	27668569	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:27668569G>A	uc011lap.2	-	6	1077	c.711C>T	c.(709-711)gaC>gaT	p.D237D	ESCO2_uc010luy.1_Intron|PBK_uc003xgi.3_Silent_p.D226D	NM_018492	NP_060962	Q96KB5	TOPK_HUMAN	Homo sapiens PDZ binding kinase (PBK), mRNA.	226	Protein kinase.				mitosis		ATP binding|protein binding|protein serine/threonine kinase activity			endometrium(1)|large_intestine(2)|lung(1)	4		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|KIRC - Kidney renal clear cell carcinoma(542;0.101)|Kidney(114;0.121)|Colorectal(74;0.141)		TGTCTGCCTTGTCAGTAATAA	0.418000														49			7		0	0	1	0	0
HECW2	57520	broad.mit.edu	37	2	197106830	197106830	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:197106830C>T	uc002utm.1	-	19	3811	c.3628G>A	c.(3628-3630)Gga>Aga	p.G1210R	HECW2_uc002utl.1_Missense_Mutation_p.G854R	NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 (HECW2), mRNA.	1210					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						GGGCCTTGTCCATATCCTTTA	0.478000														122			55		0	0	1	0	0
GATA3	2625	broad.mit.edu	37	10	8100600	8100600	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:8100600G>A	uc001ijz.3	+	2	1131	c.574G>A	c.(574-576)Gac>Aac	p.D192N	GATA3_uc001ika.3_Missense_Mutation_p.D192N	NM_001002295	NP_001002295	P23771	GATA3_HUMAN	Homo sapiens GATA binding protein 3 (GATA3), transcript variant 1, mRNA.	192					T cell receptor signaling pathway|TOR signaling cascade|aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of T cell differentiation|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|transcription coactivator activity|transcription factor binding|zinc ion binding			NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						GCCCCTGCCCGACAGCATGAA	0.682000			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""							59			21		0	0	1	0	0
MORC2	22880	broad.mit.edu	37	22	31324094	31324094	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:31324094C>T	uc003aje.1	-	25	4120	c.2756G>A	c.(2755-2757)cGc>cAc	p.R919H		NM_014941	NP_055756	Q9Y6X9	MORC2_HUMAN	Homo sapiens MORC family CW-type zinc finger 2 (MORC2), mRNA.	981							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						CTCGGAGGTGCGCAGGCTTTC	0.587000														20			15		0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21789968	21789968	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:21789968C>T	uc003svc.3	+	54	8978	c.8947C>T	c.(8947-8949)Cga>Tga	p.R2983*		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	2983	AAA 4 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GGCCAGGGTGCGACTACAGCT	0.373000									Kartagener syndrome					11			3		0	0	1	0	0
LTK	4058	broad.mit.edu	37	15	41799345	41799345	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:41799345G>A	uc001zoa.3	-	10	1667	c.1489C>T	c.(1489-1491)Cct>Tct	p.P497S	LTK_uc001zob.3_Missense_Mutation_p.P436S|LTK_uc010ucx.1_Missense_Mutation_p.A397V|LTK_uc010bcg.2_Missense_Mutation_p.P195S	NM_002344	NP_002335	P29376	LTK_HUMAN	Homo sapiens leukocyte receptor tyrosine kinase (LTK), transcript variant 1, mRNA.	497					apoptosis|cell proliferation|phosphatidylinositol 3-kinase cascade|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1)	26		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		GGTGGCAGAGGCCAGGACTGG	0.582000										TSP Lung(18;0.14)				40			22		0	0	1	0	0
TTBK2	146057	broad.mit.edu	37	15	43075630	43075630	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:43075630A>G	uc001zqo.2	-	10	1623	c.1184T>C	c.(1183-1185)cTt>cCt	p.L395P	TTBK2_uc010bcy.2_Missense_Mutation_p.L326P|TTBK2_uc001zqp.3_Missense_Mutation_p.L395P	NM_173500	NP_775771	Q6IQ55	TTBK2_HUMAN	Homo sapiens tau tubulin kinase 2 (TTBK2), mRNA.	395					cell death		ATP binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		acaaattccAAGCTTTATCTT	0.438000														327			20		0	0	1	0	0
SEC14L1	6397	broad.mit.edu	37	17	75208277	75208277	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:75208277C>T	uc010dhc.3	+	14	2177	c.1857C>T	c.(1855-1857)agC>agT	p.S619S	SEC14L1_uc021udw.1_Silent_p.S619S|SEC14L1_uc021udx.1_Silent_p.S619S|SEC14L1_uc002jto.3_Silent_p.S619S|SEC14L1_uc010wth.2_Silent_p.S619S|SEC14L1_uc002jtm.3_Silent_p.S619S|SEC14L1_uc010wti.2_Silent_p.S585S|SEC14L1_uc010wtj.1_Missense_Mutation_p.R108C|SEC14L1_uc002jtr.2_Silent_p.S13S	NM_001039573	NP_001191337	Q92503	S14L1_HUMAN	Homo sapiens SEC14-like 1 (S. cerevisiae) (SEC14L1), transcript variant 2, mRNA.	619	GOLD.				transport	Golgi apparatus|integral to membrane	binding			NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						AAGGAGAAAGCGTGCAGGTAA	0.542000														110			55		0	0	1	0	0
PTEN	5728	broad.mit.edu	37	10	89692973	89692973	+	Missense_Mutation	SNP	G	T	T	rs9651492		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:89692973G>T	uc001kfb.3	+	4	1489	c.457G>T	c.(457-459)Gat>Tat	p.D153Y	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	153	Phosphatase tensin-type.				T cell receptor signaling pathway|activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development	PML body|cytosol|internal side of plasma membrane	PDZ domain binding|anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.D153Y(4)|p.D153N(2)|p.Y27fs*1(2)|p.D153fs*27(2)|p.L152P(2)|p.Y27_N212>Y(2)|p.L152V(1)|p.D153E(1)|p.L152R(1)|p.D153D(1)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AGAGGCCCTAGATTTCTATGG	0.378000		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				57			28		7.26314e-15	9.11658e-15	1	1	0
PKP1	5317	broad.mit.edu	37	1	201292216	201292216	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:201292216G>A	uc001gwd.3	+	9	1893	c.1642G>A	c.(1642-1644)Gcc>Acc	p.A548T	PKP1_uc001gwe.3_Missense_Mutation_p.A527T|PKP1_uc009wzm.3_Missense_Mutation_p.A135T	NM_000299	NP_000290	Q13835	PKP1_HUMAN	Homo sapiens plakophilin 1 (ectodermal dysplasia/skin fragility syndrome) (PKP1), transcript variant 1b, mRNA.	548					cell adhesion|cellular component disassembly involved in apoptosis|multicellular organismal development	desmosome|intermediate filament|nucleus	intermediate filament binding|signal transducer activity|structural constituent of epidermis			NS(2)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(5)|prostate(1)	22						CCATTCAGATGCCATCCGCAC	0.582000														103			43		0	0	1	0	0
SMC3	9126	broad.mit.edu	37	10	112357911	112357911	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:112357911A>C	uc001kze.3	+	19	2257	c.2131A>C	c.(2131-2133)Att>Ctt	p.I711L		NM_005445	NP_005436	Q9UQE7	SMC3_HUMAN	Homo sapiens structural maintenance of chromosomes 3 (SMC3), mRNA.	711					DNA mediated transformation|DNA repair|cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		TAATAATGAAATTGATCAGTT	0.323000														81			9		0	0	1	0	0
GABRA1	2554	broad.mit.edu	37	5	161322744	161322744	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:161322744C>T	uc010jiw.3	+	9	1397	c.929C>T	c.(928-930)gCa>gTa	p.A310V	GABRA1_uc010jix.3_Missense_Mutation_p.A310V|GABRA1_uc010jiy.3_Missense_Mutation_p.A310V|GABRA1_uc003lyx.4_Missense_Mutation_p.A310V|GABRA1_uc010jiz.3_Missense_Mutation_p.A310V|GABRA1_uc010jja.3_Missense_Mutation_p.A310V|GABRA1_uc010jjb.3_Missense_Mutation_p.A310V	NM_000806	NP_001121120	P14867	GBRA1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 1 (GABRA1), transcript variant 1, mRNA.	310					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	GTGGCTTATGCAACAGCTATG	0.413000														49			40		0	0	1	0	0
MAVS	57506	broad.mit.edu	37	20	3835383	3835383	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:3835383G>A	uc002wjw.4	+	1	284	c.112G>A	c.(112-114)Gac>Aac	p.D38N	MAVS_uc002wjv.3_Missense_Mutation_p.D38N|MAVS_uc002wjx.4_5'UTR|MAVS_uc002wjy.4_5'UTR	NM_020746	NP_001193420	Q7Z434	MAVS_HUMAN	Homo sapiens mitochondrial antiviral signaling protein (MAVS), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	38	CARD.|Required for interaction with NLRX1.				activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of IP-10 production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus	integral to membrane|mitochondrial outer membrane	CARD domain binding|protein kinase binding|signal transducer activity			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						CACAGCAAGAGACCAGGTGAG	0.527000														26			18		0	0	1	0	0
SEMA6B	10501	broad.mit.edu	37	19	4550817	4550817	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:4550817C>T	uc010dud.2	-	10	1377	c.1115G>A	c.(1114-1116)cGa>cAa	p.R372Q	SEMA6B_uc010xih.1_Missense_Mutation_p.R372Q	NM_032108	NP_115484	Q9H3T3	SEM6B_HUMAN	Homo sapiens sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B (SEMA6B), mRNA.	372	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		TCACCGGGGTCGAGGCACCTG	0.627000														30			19		0	0	1	0	0
HEATR5B	54497	broad.mit.edu	37	2	37285656	37285656	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:37285656G>T	uc002rpp.1	-	13	2093	c.1997C>A	c.(1996-1998)gCt>gAt	p.A666D		NM_019024	NP_061897	Q9P2D3	HTR5B_HUMAN	Homo sapiens HEAT repeat containing 5B (HEATR5B), mRNA.	666							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				GACCATTGCAGCACTAGCTTT	0.323000														60			4		0.150653	0.152248	1	1	0
CACNG2	10369	broad.mit.edu	37	22	36983581	36983581	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:36983581G>T	uc003aps.2	-	1	295	c.226C>A	c.(226-228)Ctg>Atg	p.L76M		NM_006078	NP_006069	Q9Y698	CCG2_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 2 (CACNG2), mRNA.	76					membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	18						TGCTTGCACAGACCTTTGAAA	0.483000														74			40		1.00001e-27	1.31461e-27	1	1	0
STOM	2040	broad.mit.edu	37	9	124111498	124111498	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:124111498G>A	uc004blh.3	-	4	505	c.425C>T	c.(424-426)gCa>gTa	p.A142V	STOM_uc004bli.3_Intron|STOM_uc011lyk.2_Missense_Mutation_p.A91V	NM_004099	NP_004090	P27105	STOM_HUMAN	Homo sapiens stomatin (STOM), transcript variant 1, mRNA.	142					protein homooligomerization	cytoskeleton|integral to plasma membrane|melanosome|membrane raft	protein binding			endometrium(1)|large_intestine(1)|lung(3)|urinary_tract(1)	6				OV - Ovarian serous cystadenocarcinoma(323;0.00107)|GBM - Glioblastoma multiforme(294;0.0137)		AAGACGGGTTGCTGAGTCAGC	0.473000														26			15		0	0	1	0	0
SMC2	10592	broad.mit.edu	37	9	106880543	106880543	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:106880543T>G	uc004bbv.3	+	14	2171	c.1883T>G	c.(1882-1884)tTt>tGt	p.F628C	SMC2_uc004bbu.1_Missense_Mutation_p.F628C|SMC2_uc004bbw.3_Missense_Mutation_p.F628C|SMC2_uc011lvl.2_Missense_Mutation_p.F628C|SMC2_uc004bbx.3_Missense_Mutation_p.F628C	NM_001042551	NP_006435	O95347	SMC2_HUMAN	Homo sapiens structural maintenance of chromosomes 2 (SMC2), transcript variant 2, mRNA.	628	Flexible hinge.				cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						GGAACAACATTTGTTTGTGAC	0.418000														92			9		0	0	1	0	0
CAPZA2	830	broad.mit.edu	37	7	116533072	116533072	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:116533072A>G	uc003vil.3	+	2	231	c.128A>G	c.(127-129)gAc>gGc	p.D43G	CAPZA2_uc003vik.1_Non-coding_Transcript|CAPZA2_uc011knk.2_Non-coding_Transcript	NM_006136	NP_006127	P47755	CAZA2_HUMAN	Homo sapiens capping protein (actin filament) muscle Z-line, alpha 2 (CAPZA2), mRNA.	43					actin cytoskeleton organization|actin filament capping|blood coagulation|cellular component movement|innate immune response|protein complex assembly	F-actin capping protein complex|cytosol|extracellular region	actin binding			endometrium(2)|kidney(3)|large_intestine(4)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	13	all_cancers(3;8.53e-08)|all_epithelial(6;7.79e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)		GBM - Glioblastoma multiforme(2;5.01e-06)|STAD - Stomach adenocarcinoma(10;0.000512)|all cancers(2;0.00326)			CTTAATAATGACAATCTTCTC	0.338000														57			5		0	0	1	0	0
DEK	7913	broad.mit.edu	37	6	18258281	18258281	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:18258281T>C	uc003ncr.1	-	3	453	c.260A>G	c.(259-261)aAa>aGa	p.K87R	DEK_uc011djf.1_Missense_Mutation_p.K53R|DEK_uc011djg.1_Intron	NM_003472	NP_003463	P35659	DEK_HUMAN	Homo sapiens DEK oncogene (DEK), transcript variant 1, mRNA.	87					chromatin modification|regulation of transcription from RNA polymerase II promoter|signal transduction|transcription from RNA polymerase II promoter|viral genome replication	nucleus	DNA binding|histone binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	7	Ovarian(93;0.00769)|Breast(50;0.0495)	all_hematologic(90;0.053)	OV - Ovarian serous cystadenocarcinoma(7;0.00291)|all cancers(50;0.031)|Epithelial(50;0.0332)			TTCACAAAGTTTCTGCCCCTT	0.318000			T	NUP214	AML									38			4		0	0	1	0	0
AXIN2	8313	broad.mit.edu	37	17	63532578	63532578	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:63532578G>A	uc002jfi.3	-	7	2290	c.2001C>T	c.(1999-2001)agC>agT	p.S667S	AXIN2_uc002jfh.3_Silent_p.S602S	NM_004655	NP_004646	Q9Y2T1	AXIN2_HUMAN	Homo sapiens axin 2 (AXIN2), mRNA.	667					Wnt receptor signaling pathway involved in somitogenesis|cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|mRNA stabilization|maintenance of DNA repeat elements|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair	Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density	GTPase activator activity|armadillo repeat domain binding|beta-catenin binding|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						GGGGGTGCCCGCTGTTGCCCC	0.667000									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome					18			14		0	0	1	0	0
DDX11	1663	broad.mit.edu	37	12	31244760	31244760	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:31244760C>T	uc001rjt.1	+	9	1448	c.1197C>T	c.(1195-1197)atC>atT	p.I399I	DDX11_uc010sjx.1_Non-coding_Transcript|DDX11_uc001rjr.1_Silent_p.I399I|DDX11_uc001rjs.1_Silent_p.I399I|DDX11_uc001rju.1_Silent_p.I77I|DDX11_uc001rjv.1_Silent_p.I399I|DDX11_uc001rjw.1_Silent_p.I373I|DDX11_uc001rjx.1_Silent_p.I77I|DDX11_uc009zjn.1_Non-coding_Transcript	NM_152438	NP_689651	Q96FC9	DDX11_HUMAN	Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (DDX11), transcript variant 3, mRNA.	399	Helicase ATP-binding.				G2/M transition of mitotic cell cycle|S phase of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|RNA binding|protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					ACAACCTGATCGACACCATCA	0.667000										Multiple Myeloma(12;0.14)				49			14		0	0	1	0	0
RFX6	222546	broad.mit.edu	37	6	117246731	117246731	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:117246731C>A	uc003pxm.3	+	15	1857	c.1794C>A	c.(1792-1794)acC>acA	p.T598T		NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN	Homo sapiens regulatory factor X, 6 (RFX6), mRNA.	598					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						TGGAGACAACCTATCTCCCTC	0.542000														41			38		1.36161e-19	1.75324e-19	1	1	0
VPS13B	157680	broad.mit.edu	37	8	100396497	100396497	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:100396497G>A	uc003yiv.3	+	19	2997	c.2886G>A	c.(2884-2886)acG>acA	p.T962T	VPS13B_uc003yiw.3_Silent_p.T962T|VPS13B_uc003yiu.1_Silent_p.T962T|VPS13B_uc003yix.1_Silent_p.T433T	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA.	962					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TCTTATATACGTGGCTCATCT	0.313000														99			10		0	0	1	0	0
TBC1D9B	23061	broad.mit.edu	37	5	179292287	179292287	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:179292287C>A	uc003mlh.3	-	20	3074	c.3039G>T	c.(3037-3039)aaG>aaT	p.K1013N	TBC1D9B_uc003mli.3_Missense_Mutation_p.K996N|TBC1D9B_uc003mlj.3_Missense_Mutation_p.K995N|TBC1D9B_uc003mlf.3_Missense_Mutation_p.K87N|TBC1D9B_uc003mlg.3_Missense_Mutation_p.K172N|TBC1D9B_uc011dgv.2_Missense_Mutation_p.K172N	NM_198868	NP_942568	Q66K14	TBC9B_HUMAN	Homo sapiens TBC1 domain family, member 9B (with GRAM domain) (TBC1D9B), transcript variant 1, mRNA.	1013						integral to membrane|intracellular	Rab GTPase activator activity|calcium ion binding			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)			TAATCGTCTCCTTCTGAGCCT	0.517000														87			8		5.4927e-09	6.49148e-09	1	1	0
MAX	4149	broad.mit.edu	37	14	65472930	65472930	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:65472930G>T	uc001xic.1	-	3	414	c.244C>A	c.(244-246)Cat>Aat	p.H82N	CHURC1-FNTB_uc010tsl.2_Intron|CHURC1-FNTB_uc010tsm.2_Intron|CHURC1-FNTB_uc001xia.3_Intron	NM_197957	NP_932061	P61244	MAX_HUMAN	Homo sapiens MYC associated factor X (MAX), transcript variant 6, mRNA.	0	Leucine-zipper.				transcription from RNA polymerase II promoter	MLL1 complex|cytoplasm	sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	17				all cancers(60;0.000776)|OV - Ovarian serous cystadenocarcinoma(108;0.00359)|BRCA - Breast invasive adenocarcinoma(234;0.00999)		GATTAGCCATGGCAGAAAACA	0.368000														122			17		4.7546e-09	5.62729e-09	1	1	0
DDX11	1663	broad.mit.edu	37	12	31256654	31256654	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:31256654G>A	uc001rjt.1	+	25	2926	c.2675G>A	c.(2674-2676)tGc>tAc	p.C892Y	DDX11_uc001rjr.1_Missense_Mutation_p.A894T|DDX11_uc001rjs.1_Missense_Mutation_p.A844T|DDX11_uc001rju.1_Missense_Mutation_p.A566T|DDX11_uc001rjv.1_Missense_Mutation_p.C892Y|DDX11_uc001rjw.1_Missense_Mutation_p.A868T|DDX11_uc009zjn.1_Non-coding_Transcript|DDX11_uc009zjo.1_Missense_Mutation_p.C61Y	NM_152438	NP_689651	Q96FC9	DDX11_HUMAN	Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (DDX11), transcript variant 3, mRNA.	892					G2/M transition of mitotic cell cycle|S phase of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|RNA binding|protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					CGCCATTGCTGCTGTGCAGAA	0.602000										Multiple Myeloma(12;0.14)				48			35		0	0	1	0	0
ZSWIM1	90204	broad.mit.edu	37	20	44511609	44511609	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:44511609C>T	uc021wem.1	+	0	378	c.378C>T	c.(376-378)gcC>gcT	p.A126A	ZSWIM1_uc010ghi.3_Silent_p.A126A	NM_080603	NP_542170	Q9BR11	ZSWM1_HUMAN	Homo sapiens zinc finger, SWIM-type containing 1 (ZSWIM1), mRNA.	126							zinc ion binding			breast(1)|endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13		Myeloproliferative disorder(115;0.028)				AAGGCCTGGCCCAGATGTTCC	0.532000														36			27		0	0	1	0	0
PPIP5K2	23262	broad.mit.edu	37	5	102484967	102484967	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:102484967C>A	uc003kod.4	+	7	1375	c.856C>A	c.(856-858)Ctc>Atc	p.L286I	PPIP5K2_uc011cva.2_Non-coding_Transcript|PPIP5K2_uc003koe.3_Missense_Mutation_p.L286I|PPIP5K2_uc010jbo.2_Missense_Mutation_p.L208I	NM_015216	NP_056031	O43314	VIP2_HUMAN	Homo sapiens diphosphoinositol pentakisphosphate kinase 2 (PPIP5K2), mRNA.	286					inositol metabolic process	cytosol	ATP binding|acid phosphatase activity|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						CCCTGTTATTCTCAATGCACG	0.398000														50			5		3.59834e-05	3.95114e-05	1	1	0
SHMT2	6472	broad.mit.edu	37	12	57627032	57627032	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57627032C>T	uc001snf.2	+	7	1133	c.927C>T	c.(925-927)taC>taT	p.Y309Y	SHMT2_uc001snh.2_Silent_p.Y311Y|SHMT2_uc009zpk.2_Silent_p.Y299Y|SHMT2_uc001sng.2_Silent_p.Y205Y|SHMT2_uc001sni.2_Silent_p.Y288Y|SHMT2_uc010srg.2_Silent_p.Y318Y|SHMT2_uc010srh.2_Silent_p.Y288Y|SHMT2_uc001snj.2_Silent_p.Y213Y|SHMT2_uc010sri.2_Silent_p.Y288Y|SHMT2_uc001snk.2_Silent_p.Y213Y|SHMT2_uc010srj.2_5'UTR	NM_005412	NP_001159831	P34897	GLYM_HUMAN	Homo sapiens serine hydroxymethyltransferase 2 (mitochondrial) (SHMT2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	309						microtubule cytoskeleton|mitochondrial nucleoid	glycine hydroxymethyltransferase activity|methyltransferase activity			breast(1)|central_nervous_system(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15					Glycine(DB00145)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	AGATCCCTTACACATTTGAGG	0.567000														32			12		0	0	1	0	0
GUCY1A3	2982	broad.mit.edu	37	4	156634624	156634624	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:156634624C>T	uc003iov.3	+	7	1997	c.1461C>T	c.(1459-1461)atC>atT	p.I487I	GUCY1A3_uc010iqc.2_Silent_p.I487I|GUCY1A3_uc010iqd.3_Silent_p.I486I|GUCY1A3_uc003iow.3_Silent_p.I487I|GUCY1A3_uc003iox.3_Silent_p.I487I|GUCY1A3_uc010iqe.3_Silent_p.I252I|GUCY1A3_uc003ioy.3_Silent_p.I487I|GUCY1A3_uc003ioz.3_Silent_p.I252I|GUCY1A3_uc003ipa.3_Intron|GUCY1A3_uc003ipb.3_Silent_p.I487I	NM_000856	NP_001124157	Q02108	GCYA3_HUMAN	Homo sapiens guanylate cyclase 1, soluble, alpha 3 (GUCY1A3), transcript variant 1, mRNA.	487	Guanylate cyclase.				blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		TCTCAGACATCGTTGGGTTCA	0.537000														30			17		0	0	1	0	0
LRFN4	78999	broad.mit.edu	37	11	66625626	66625626	+	Silent	SNP	G	T	T	rs138102608		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:66625626G>T	uc001ojr.3	+	0	751	c.411G>T	c.(409-411)ccG>ccT	p.P137P	PC_uc001ojo.1_Intron|PC_uc001ojp.1_Intron|PC_uc001ojn.1_Intron|LRFN4_uc001ojq.1_Silent_p.P137P	NM_024036	NP_076941	Q6PJG9	LRFN4_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 4 (LRFN4), mRNA.	137						integral to membrane				breast(1)|lung(1)|prostate(1)	3						GCATCGCGCCGGGAGCCTTCG	0.692000														38			27		4.47668e-21	5.78941e-21	1	1	0
PAXIP1	22976	broad.mit.edu	37	7	154767645	154767645	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:154767645G>A	uc022aqg.1	-	5	878	c.835C>T	c.(835-837)Cgc>Tgc	p.R279C	PAXIP1_uc022aqf.1_Missense_Mutation_p.R279C|PAXIP1_uc022aqh.1_Missense_Mutation_p.R245C|PAXIP1_uc022aqi.1_Missense_Mutation_p.R243C|PAXIP1_uc003wlr.1_Missense_Mutation_p.R188C	NM_007349	NP_031375	Q6ZW49	PAXI1_HUMAN	Homo sapiens PAX interacting (with transcription-activation domain) protein 1 (PAXIP1), mRNA.	279					DNA damage response, signal transduction by p53 class mediator|DNA recombination|DNA repair|histone H3-K4 methylation|positive regulation of histone H3-K36 methylation|positive regulation of histone H3-K4 methylation|positive regulation of histone acetylation|positive regulation of isotype switching|positive regulation of protein ubiquitination|positive regulation of transcription initiation from RNA polymerase II promoter|response to ionizing radiation|transcription, DNA-dependent	histone methyltransferase complex|nuclear matrix				NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	33	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)		GGCAGCCTGCGTTTTGCTGCA	0.498000														23			16		0	0	1	0	0
ID3	3399	broad.mit.edu	37	1	23885873	23885873	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:23885873G>A	uc001bhh.4	-	0	413	c.45C>T	c.(43-45)tgC>tgT	p.C15C		NM_002167	NP_002158	Q02535	ID3_HUMAN	Homo sapiens inhibitor of DNA binding 3, dominant negative helix-loop-helix protein (ID3), mRNA.	15					negative regulation of sequence-specific DNA binding transcription factor activity		transcription corepressor activity			central_nervous_system(1)|lung(3)	4		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00314)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;8.83e-25)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;6.5e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184)		CCGACAGGCAGCACACCGCCT	0.642000														16			18		0	0	1	0	0
MOCOS	55034	broad.mit.edu	37	18	33800180	33800180	+	Splice_Site	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:33800180G>A	uc002kzq.4	+	9	1983	c.1960_splice	c.e9+1	p.G654_splice		NM_017947	NP_060417	Q96EN8	MOCOS_HUMAN	Homo sapiens molybdenum cofactor sulfurase (MOCOS), mRNA.	654					Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	Mo-molybdopterin cofactor sulfurase activity|lyase activity|molybdenum ion binding|pyridoxal phosphate binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43					Pyridoxal Phosphate(DB00114)	CAAAGCCAAAGGTGGGAAAAC	0.478000														37			15		0	0	1	0	0
UGGT1	56886	broad.mit.edu	37	2	128922353	128922353	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:128922353A>G	uc002tps.3	+	25	3053	c.2875A>G	c.(2875-2877)Aaa>Gaa	p.K959E	UGGT1_uc010fme.1_Missense_Mutation_p.K834E|UGGT1_uc002tpr.3_Missense_Mutation_p.K935E	NM_020120	NP_064505	Q9NYU2	UGGG1_HUMAN	Homo sapiens UDP-glucose glycoprotein glucosyltransferase 1 (UGGT1), transcript variant 1, mRNA.	959					'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	ER-Golgi intermediate compartment|endoplasmic reticulum lumen	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding	p.P958P(1)		NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						AGCGCAACCAAAAGGAGATCC	0.363000														17			12		0	0	1	0	0
SLFN12L	100506736	broad.mit.edu	37	17	33806727	33806727	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:33806727C>T	uc002hjn.3	-	2	1303	c.589G>A	c.(589-591)Gaa>Aaa	p.E197K	SLFN12L_uc021tuy.1_Missense_Mutation_p.E168K	NM_001195790	NP_001182719	Q6IEE8	SN12L_HUMAN	Homo sapiens schlafen family member 12-like (SLFN12L), mRNA.	200						integral to membrane	ATP binding			breast(1)|endometrium(4)|kidney(5)|large_intestine(2)|lung(3)|ovary(1)	16						CCAGTTTTTTCCATGTCTTTG	0.453000														12			18		0	0	1	0	0
PA2G4	5036	broad.mit.edu	37	12	56504771	56504771	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56504771C>A	uc001sjm.3	+	9	1285	c.866C>A	c.(865-867)gCt>gAt	p.A289D		NM_006191	NP_006182	Q9UQ80	PA2G4_HUMAN	Homo sapiens proliferation-associated 2G4, 38kDa (PA2G4), mRNA.	289					cell cycle arrest|cell proliferation|negative regulation of transcription, DNA-dependent|rRNA processing|regulation of translation	cytoplasm|nucleolus|ribonucleoprotein complex	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(18;0.0739)			GAGAAGAAGGCTCGGATGGGT	0.423000														20			6		0.0215528	0.0220531	1	1	0
RPP25L	138716	broad.mit.edu	37	9	34610806	34610806	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:34610806G>A	uc022bgh.1	-	0	488	c.488C>T	c.(487-489)tCg>tTg	p.S163L	RPP25L_uc003zuu.3_Missense_Mutation_p.S163L|RPP25L_uc003zuv.3_Missense_Mutation_p.S163L	NM_148179	NP_680545	Q8N5L8	CI023_HUMAN	Homo sapiens chromosome 9 open reading frame 23 (C9orf23), transcript variant 2, mRNA.	163							nucleic acid binding										AGGTCTTCACGATCGGGTGTC	0.607000														58			31		0	0	1	0	0
ARG2	384	broad.mit.edu	37	14	68112518	68112518	+	Splice_Site	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:68112518A>C	uc001xjs.3	+	4	638	c.522_splice	c.e4+1	p.K174_splice		NM_001172	NP_001163	P78540	ARGI2_HUMAN	Homo sapiens arginase, type II (ARG2), nuclear gene encoding mitochondrial protein, mRNA.	174					arginine metabolic process|nitric oxide biosynthetic process|urea cycle	mitochondrial matrix	arginase activity|metal ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|ovary(1)|prostate(1)	11				all cancers(60;0.000582)|OV - Ovarian serous cystadenocarcinoma(108;0.00392)|BRCA - Breast invasive adenocarcinoma(234;0.00928)	L-Arginine(DB00125)|L-Ornithine(DB00129)	CTACAGGATAAGGTCAGTGGG	0.468000														14			13		0	0	1	0	0
ADAMDEC1	27299	broad.mit.edu	37	8	24256926	24256926	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:24256926G>A	uc003xdz.2	+	9	1170	c.950G>A	c.(949-951)cGa>cAa	p.R317Q	ADAMDEC1_uc010lub.2_Missense_Mutation_p.R238Q|ADAMDEC1_uc011lab.1_Missense_Mutation_p.R238Q	NM_014479	NP_001138744	O15204	ADEC1_HUMAN	Homo sapiens ADAM-like, decysin 1 (ADAMDEC1), transcript variant 1, mRNA.	317	Peptidase M12B.				integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		TTCAACAATCGACGTGTGGGA	0.388000														70			47		0	0	1	0	0
TOP3A	7156	broad.mit.edu	37	17	18181375	18181375	+	Missense_Mutation	SNP	T	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:18181375T>A	uc002gsx.1	-	17	2670	c.2441A>T	c.(2440-2442)aAc>aTc	p.N814I	TOP3A_uc010cpz.1_Missense_Mutation_p.N266I|TOP3A_uc010vxr.1_Missense_Mutation_p.N344I|TOP3A_uc002gsw.1_Missense_Mutation_p.N266I|TOP3A_uc010vxs.1_Missense_Mutation_p.N712I	NM_004618	NP_004609	Q13472	TOP3A_HUMAN	Homo sapiens topoisomerase (DNA) III alpha (TOP3A), mRNA.	814	2 X 27 AA approximate repeats.				DNA topological change|meiosis	PML body|chromosome	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						CTGGCCACAGTTGCAGGTCAC	0.612000														45			29		0	0	1	0	0
CXCR3	2833	broad.mit.edu	37	X	70836749	70836749	+	Silent	SNP	C	T	T	rs148752439		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:70836749C>T	uc022bys.1	-	0	714	c.714G>A	c.(712-714)tcG>tcA	p.S238S	BCYRN1_uc011mpt.1_Intron|CXCR3_uc004eaf.3_Silent_p.S191S|CXCR3_uc011mpx.2_Silent_p.S238S	NM_001142797	NP_001136269	P49682	CXCR3_HUMAN	Homo sapiens chemokine (C-X-C motif) receptor 3 (CXCR3), transcript variant 2, mRNA.	191					cell adhesion|cellular component movement|chemotaxis|elevation of cytosolic calcium ion concentration	cytoplasm|integral to plasma membrane	C-X-C chemokine receptor activity			breast(1)|central_nervous_system(2)|large_intestine(2)|lung(3)|ovary(2)	10	Renal(35;0.156)					CGTGGTGGGCCGACAGGAAGA	0.682000														17			8		0	0	1	0	0
PDE4A	5141	broad.mit.edu	37	19	10561606	10561606	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10561606G>A	uc002moj.2	+	5	880	c.772G>A	c.(772-774)Gcc>Acc	p.A258T	PDE4A_uc021uow.1_Missense_Mutation_p.A236T|PDE4A_uc002mok.2_Missense_Mutation_p.A232T|PDE4A_uc002mol.2_Missense_Mutation_p.A197T|PDE4A_uc002mom.2_5'Flank	NM_001111307	NP_001104777	P27815	PDE4A_HUMAN	Homo sapiens phosphodiesterase 4A, cAMP-specific (PDE4A), transcript variant 1, mRNA.	258					signal transduction	cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277)	CAGCGAGATGGCCTCGCACAA	0.662000														7			3		0	0	1	0	0
PAFAH1B1	5048	broad.mit.edu	37	17	2579818	2579818	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:2579818C>A	uc002fuw.4	+	8	1488	c.920C>A	c.(919-921)cCt>cAt	p.P307H	PAFAH1B1_uc010ckb.2_Intron|PAFAH1B1_uc010vqz.2_Intron	NM_000430	NP_000421	P43034	LIS1_HUMAN	Homo sapiens platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa) (PAFAH1B1), mRNA.	307	Interaction with dynein and dynactin.				G2/M transition of mitotic cell cycle|acrosome assembly|actin cytoskeleton organization|adult locomotory behavior|brain morphogenesis|corpus callosum morphogenesis|establishment of mitotic spindle orientation|hippocampus development|layer formation in cerebral cortex|learning or memory|lipid catabolic process|microtubule organizing center organization|mitotic prometaphase|neuroblast proliferation|neuromuscular process controlling balance|neuron migration|platelet activating factor metabolic process|regulation of Rho GTPase activity|retrograde axon cargo transport|synaptic transmission|vesicle transport along microtubule	astral microtubule|cell cortex|centrosome|cytosol|kinetochore|motile primary cilium|nuclear membrane|perinuclear region of cytoplasm	dynactin binding|heparin binding|microtubule binding|phospholipase binding|phosphoprotein binding|protein homodimerization activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|skin(1)	11						AGTGGTAAACCTGGGCCATTC	0.368000														52			32		1.22384e-17	1.5618e-17	1	1	0
NCSTN	23385	broad.mit.edu	37	1	160321854	160321854	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:160321854G>A	uc001fvx.3	+	7	978	c.854G>A	c.(853-855)cGt>cAt	p.R285H	NCSTN_uc001fvy.3_Missense_Mutation_p.R265H|NCSTN_uc010pjf.2_Intron|NCSTN_uc010pjg.2_Missense_Mutation_p.R27H	NM_015331	NP_056146	Q92542	NICA_HUMAN	Homo sapiens nicastrin (NCSTN), mRNA.	285					Notch receptor processing|Notch signaling pathway|amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|positive regulation of catalytic activity|protein processing	Golgi apparatus|endoplasmic reticulum|integral to plasma membrane|melanosome	protein binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(2)	34	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CTGGATAGTCGTTCCTTTTTC	0.488000														68			35		0	0	1	0	0
C2CD2	25966	broad.mit.edu	37	21	43338295	43338295	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:43338295C>A	uc002yzw.3	-	4	881	c.639G>T	c.(637-639)aaG>aaT	p.K213N	C2CD2_uc002yzu.3_Missense_Mutation_p.K45N|C2CD2_uc002yzv.3_Missense_Mutation_p.K58N|C2CD2_uc002yzx.1_Missense_Mutation_p.K58N	NM_015500	NP_950251	Q9Y426	CU025_HUMAN	Homo sapiens C2 calcium-dependent domain containing 2 (C2CD2), transcript variant 1, mRNA.	213						cytosol|extracellular region|nucleus				endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1)	15						TCAAGATGTCCTTGAGAACGT	0.507000														29			19		3.51602e-12	4.32762e-12	1	1	0
SLC34A1	6569	broad.mit.edu	37	5	176815130	176815130	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:176815130C>T	uc003mgk.4	+	6	884	c.780C>T	c.(778-780)ggC>ggT	p.G260G	SLC34A1_uc021yis.1_Silent_p.G260G	NM_003052	NP_003043	Q06495	NPT2A_HUMAN	Homo sapiens solute carrier family 34 (sodium phosphate), member 1 (SLC34A1), transcript variant 1, mRNA.	260					phosphate ion homeostasis|response to cadmium ion|response to lead ion|response to mercury ion|sodium ion transport	brush border membrane|integral to plasma membrane	protein binding|sodium-dependent phosphate transmembrane transporter activity|symporter activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCCATGGTGGCCGTGATGCTC	0.602000														36			5		0	0	1	0	0
ALS2CR12	130540	broad.mit.edu	37	2	202153498	202153498	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:202153498C>A	uc010ftg.3	-	14	1662	c.1218G>T	c.(1216-1218)aaG>aaT	p.K406N	ALS2CR12_uc002uya.4_Missense_Mutation_p.K383N|ALS2CR12_uc010fth.3_Non-coding_Transcript	NM_139163	NP_631902	Q96Q35	AL2SB_HUMAN	Homo sapiens amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 12 (ALS2CR12), transcript variant 1, mRNA.	406					regulation of GTPase activity		protein binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)	21						TAGAAATTATCTTTTGCCTGT	0.378000														34			21		4.96729e-08	5.78267e-08	1	1	0
FAT3	120114	broad.mit.edu	37	11	92600234	92600234	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:92600234C>T	uc001pdj.4	+	20	12003	c.11986C>T	c.(11986-11988)Ctg>Ttg	p.L3996L	FAT3_uc001pdi.4_Silent_p.L436L	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	3996	Laminin G-like.				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)				TAACAATGAGCTGCCGCTGCA	0.637000										TCGA Ovarian(4;0.039)				5			4		0	0	1	0	0
DIRC2	84925	broad.mit.edu	37	3	122545775	122545775	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:122545775T>G	uc003efw.4	+	2	705	c.566T>G	c.(565-567)cTc>cGc	p.L189R	DIRC2_uc010hrl.3_Non-coding_Transcript|DIRC2_uc010hrm.3_Missense_Mutation_p.L27R	NM_032839	NP_116228	Q96SL1	DIRC2_HUMAN	Homo sapiens disrupted in renal carcinoma 2 (DIRC2), mRNA.	189					transport	integral to membrane				endometrium(2)|large_intestine(1)|lung(14)|prostate(1)	18				GBM - Glioblastoma multiforme(114;0.0614)		GCATCAATGCTCAGTTATCTT	0.502000														108			6		0	0	1	0	0
RBBP4	5928	broad.mit.edu	37	1	33145306	33145306	+	Nonstop_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:33145306G>T	uc001bvr.3	+	11	1437	c.1278G>T	c.(1276-1278)taG>taT	p.*426Y	RBBP4_uc001bvs.3_Nonstop_Mutation_p.*425Y|RBBP4_uc010ohj.2_Nonstop_Mutation_p.*174Y|RBBP4_uc010ohk.2_Nonstop_Mutation_p.*391Y	NM_005610	NP_001128728	Q09028	RBBP4_HUMAN	Homo sapiens retinoblastoma binding protein 4 (RBBP4), transcript variant 1, mRNA.	0					CenH3-containing nucleosome assembly at centromere|DNA replication|cell cycle|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|ESC/E(Z) complex|NURF complex|NuRD complex|Sin3 complex	histone binding|histone deacetylase binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				AAGGGTCCTAGATATGTCTTT	0.388000														33			21		7.87624e-14	9.83087e-14	1	1	0
MIER1	57708	broad.mit.edu	37	1	67411875	67411875	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:67411875C>A	uc001dde.2	+	3	370	c.236C>A	c.(235-237)gCt>gAt	p.A79D	MIER1_uc001dda.4_Missense_Mutation_p.L104M|MIER1_uc010opf.1_Missense_Mutation_p.A43D|MIER1_uc009way.2_Missense_Mutation_p.A43D|MIER1_uc010opg.1_Missense_Mutation_p.A43D|MIER1_uc001ddf.2_Missense_Mutation_p.A43D|MIER1_uc001ddc.2_Missense_Mutation_p.A79D|MIER1_uc001ddg.2_5'UTR|MIER1_uc001ddh.2_Intron|MIER1_uc001ddj.1_Missense_Mutation_p.A26D|MIER1_uc001ddi.2_Missense_Mutation_p.A26D	NM_001077700	NP_001139584	Q8N108	MIER1_HUMAN	Homo sapiens mesoderm induction early response 1 homolog (Xenopus laevis) (MIER1), transcript variant 2, mRNA.	50	Glu-rich.				positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(3)	15						GATCCATCAGCTGACATGCTG	0.353000														99			8		0.00621372	0.00645399	1	1	0
RNF145	153830	broad.mit.edu	37	5	158585820	158585820	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:158585820G>T	uc010jiq.2	-	10	2090	c.1940C>A	c.(1939-1941)aCt>aAt	p.T647N	RNF145_uc011ddy.2_Missense_Mutation_p.T631N|RNF145_uc003lxo.2_Missense_Mutation_p.T645N|RNF145_uc011ddz.2_Missense_Mutation_p.T634N|RNF145_uc003lxp.3_Missense_Mutation_p.T617N|RNF145_uc021ygv.1_Non-coding_Transcript	NM_001199380	NP_001186309	Q96MT1	RN145_HUMAN	Homo sapiens ring finger protein 145 (RNF145), transcript variant 1, mRNA.	617						integral to membrane	zinc ion binding			endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGTCCCTGGAGTATGCTCCTG	0.507000														57			40		4.32679e-17	5.50406e-17	1	1	0
ANK3	288	broad.mit.edu	37	10	61834476	61834476	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:61834476C>T	uc001jky.3	-	36	6501	c.6163G>A	c.(6163-6165)Gat>Aat	p.D2055N	ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	2055					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TTCTTTGCATCCTCAAACTTG	0.398000														115			6		0	0	1	0	0
SERAC1	84947	broad.mit.edu	37	6	158571620	158571620	+	Splice_Site	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:158571620C>A	uc003qrc.2	-	4	271	c.129_splice	c.e4-1	p.G43_splice	SERAC1_uc003qrb.2_Splice_Site	NM_032861	NP_116250	Q96JX3	SRAC1_HUMAN	Homo sapiens serine active site containing 1 (SERAC1), mRNA.	43					GPI anchor metabolic process|intracellular protein transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	binding|hydrolase activity, acting on ester bonds			endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	15		Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)		OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)		AATAAAGAACCTCTTAAAGAG	0.308000														58			4		0.00909568	0.00940365	1	1	0
MYO18B	84700	broad.mit.edu	37	22	26168350	26168350	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:26168350G>T	uc003abz.1	+	6	1992	c.1742G>T	c.(1741-1743)aGt>aTt	p.S581I	MYO18B_uc003aca.1_Missense_Mutation_p.S462I|MYO18B_uc010guy.1_Missense_Mutation_p.S462I|MYO18B_uc010guz.1_Missense_Mutation_p.S462I|MYO18B_uc011aka.1_5'UTR|MYO18B_uc011akb.1_Missense_Mutation_p.S94I	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	581	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						TCTCTCATCAGTGTCAACGAA	0.597000														49			34		4.42602e-33	5.85471e-33	1	1	0
LTBP4	8425	broad.mit.edu	37	19	41120228	41120228	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:41120228C>T	uc002ooh.1	+	21	2889	c.2889C>T	c.(2887-2889)gaC>gaT	p.D963D	LTBP4_uc002oog.1_Silent_p.D926D|LTBP4_uc002ooi.1_Silent_p.D896D|LTBP4_uc002ooj.1_5'UTR|LTBP4_uc002ook.1_Silent_p.D183D|LTBP4_uc002ool.1_Silent_p.D61D|LTBP4_uc002oom.1_Non-coding_Transcript|LTBP4_uc010xvp.1_5'UTR	NM_001042544	NP_001036009	Q8N2S1	LTBP4_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 4 (LTBP4), transcript variant 1, mRNA.	963	Cys-rich.				growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CAGACGTGGACGAATGTCGCG	0.652000														19			14		0	0	1	0	0
CLDN25	644672	broad.mit.edu	37	11	113650928	113650928	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:113650928C>A	uc009yyw.1	+	0	411	c.411C>A	c.(409-411)gtC>gtA	p.V137V		NM_001101389	NP_001094859	C9JDP6	CLD25_HUMAN	Homo sapiens claudin 25 (CLDN25), mRNA.	137						integral to membrane|tight junction	structural molecule activity			large_intestine(1)|lung(6)|ovary(1)|urinary_tract(2)	10						TCCTTCCAGTCTCCTGGGTGG	0.567000														32			28		5.45727e-16	6.89772e-16	1	1	0
SLC6A20	54716	broad.mit.edu	37	3	45807174	45807174	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:45807174C>A	uc011bai.2	-	7	1282	c.1158G>T	c.(1156-1158)gaG>gaT	p.E386D	SLC6A20_uc003cow.3_Missense_Mutation_p.E36D|SLC6A20_uc011baj.2_Missense_Mutation_p.E349D	NM_020208	NP_064593	Q9NP91	S6A20_HUMAN	Homo sapiens solute carrier family 6 (proline IMINO transporter), member 20 (SLC6A20), transcript variant 1, mRNA.	386					cellular nitrogen compound metabolic process|glycine transport|proline transport	apical plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		GCTGGGACACCTCCATGTTTT	0.577000														51			4		0.014758	0.0151755	1	1	0
PCDHGC5	56097	broad.mit.edu	37	5	140720329	140720329	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140720329C>T	uc003ljk.2	+	0	1976	c.1791C>T	c.(1789-1791)gaC>gaT	p.D597D	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc011dao.2_Silent_p.D597D	NM_018915	NP_061738	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 2 (PCDHGA2), transcript variant 1, mRNA.	598	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)			TGGACAGAGACTCGGGCCAGA	0.692000														65			46		0	0	1	0	0
RSPO1	284654	broad.mit.edu	37	1	38082240	38082240	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:38082240C>T	uc001cbl.2	-	4	1094	c.202G>A	c.(202-204)Gac>Aac	p.D68N	RSPO1_uc009vvf.2_Missense_Mutation_p.D41N|RSPO1_uc001cbm.2_Missense_Mutation_p.D68N|RSPO1_uc009vvg.2_Missense_Mutation_p.D68N	NM_001038633	NP_001229837	Q2MKA7	RSPO1_HUMAN	Homo sapiens R-spondin 1 (RSPO1), transcript variant 1, mRNA.	68					positive regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization		heparin binding	p.N67K(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TGGCGGATGTCGTTCCTCTCC	0.617000														48			33		0	0	1	0	0
KIAA1244	57221	broad.mit.edu	37	6	138599732	138599732	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:138599732C>T	uc003qhu.3	+	12	2444	c.2273C>T	c.(2272-2274)cCg>cTg	p.P758L		NM_020340	NP_065073	Q5TH69	BIG3_HUMAN	Homo sapiens KIAA1244 (KIAA1244), mRNA.	758	SEC7.				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		AGGAAGCGGCCGACCCTGGCG	0.607000														42			30		0	0	1	0	0
SEPT2	4735	broad.mit.edu	37	2	242287575	242287575	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:242287575A>G	uc002wbh.3	+	14	1445	c.983A>G	c.(982-984)aAa>aGa	p.K328R	SEPT2_uc002wbc.3_Missense_Mutation_p.K318R|SEPT2_uc002wbd.3_Missense_Mutation_p.K318R|SEPT2_uc002wbf.3_Missense_Mutation_p.K318R|SEPT2_uc002wbg.3_Missense_Mutation_p.K318R|SEPT2_uc010zop.2_Missense_Mutation_p.K353R	NM_006155	NP_006146	Q15019	SEPT2_HUMAN	Homo sapiens septin 2 (SEPT2), transcript variant 2, mRNA.	318					cell division|mitosis	actin cytoskeleton|cleavage furrow|condensed chromosome kinetochore|midbody|nucleolus|septin complex|spindle	GTP binding	p.A327P(1)		central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12		all_cancers(19;7.62e-41)|all_epithelial(40;1.71e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.24e-34)|all cancers(36;7.15e-32)|OV - Ovarian serous cystadenocarcinoma(60;1.21e-15)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;3.16e-06)|Lung(119;7.81e-05)|LUSC - Lung squamous cell carcinoma(224;0.000742)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0889)		GACATGAATAAAGACCAGATC	0.373000														82			10		0	0	1	0	0
FBXO31	79791	broad.mit.edu	37	16	87369043	87369043	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:87369043C>T	uc002fjw.3	-	6	907	c.863G>A	c.(862-864)cGc>cAc	p.R288H	FBXO31_uc010vot.2_Missense_Mutation_p.R116H|FBXO31_uc002fjv.3_Missense_Mutation_p.R180H	NM_024735	NP_079011	Q5XUX0	FBX31_HUMAN	Homo sapiens F-box protein 31 (FBXO31), mRNA.	288					SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle|cyclin catabolic process|mitotic cell cycle G1/S transition DNA damage checkpoint	SCF ubiquitin ligase complex	cyclin binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0272)		CAGGTAGATGCGGCGGTAGGT	0.637000														17			7		0	0	1	0	0
ZNF594	84622	broad.mit.edu	37	17	5087482	5087482	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:5087482G>T	uc010cla.1	-	1	226	c.70C>A	c.(70-72)Ctc>Atc	p.L24I	ZNF594_uc021tol.1_Missense_Mutation_p.L24I	NM_032530	NP_115919	Q96JF6	ZN594_HUMAN	Homo sapiens zinc finger protein 594 (ZNF594), mRNA.	24					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						TGTCTTTGGAGTTTTTCGGAT	0.388000														58			31		3.99451e-17	5.08325e-17	1	1	0
PCIF1	63935	broad.mit.edu	37	20	44576240	44576240	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:44576240C>T	uc002xqs.3	+	16	2275	c.1961C>T	c.(1960-1962)gCg>gTg	p.A654V	PCIF1_uc002xqt.3_Silent_p.G262G	NM_022104	NP_071387	Q9H4Z3	PCIF1_HUMAN	Homo sapiens PDX1 C-terminal inhibiting factor 1 (PCIF1), mRNA.	654						nucleus				central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	20						GCCAAGTGGGCGCCGACGCCT	0.622000														27			10		0	0	1	0	0
RGS22	26166	broad.mit.edu	37	8	101076146	101076146	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:101076146C>T	uc003yjb.1	-	7	1045	c.850G>A	c.(850-852)Gac>Aac	p.D284N	RGS22_uc003yja.1_Missense_Mutation_p.D103N|RGS22_uc003yjc.1_Missense_Mutation_p.D272N|RGS22_uc011lgz.1_Non-coding_Transcript|RGS22_uc010mbo.1_Non-coding_Transcript|RGS22_uc022azh.1_Missense_Mutation_p.D188N	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	Homo sapiens regulator of G-protein signaling 22 (RGS22), mRNA.	284					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			GAAGGAGTGTCTTGTAGAGAT	0.373000														97			77		0	0	1	0	0
RNF219	79596	broad.mit.edu	37	13	79233233	79233233	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:79233233A>C	uc001vkw.1	-	0	82	c.23T>G	c.(22-24)gTt>gGt	p.V8G	RNF219_uc010afb.1_Intron	NM_024546	NP_078822	Q5W0B1	RN219_HUMAN	Homo sapiens ring finger protein 219 (RNF219), mRNA.	8							zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|liver(1)|lung(11)|prostate(1)|skin(1)	32		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.0414)		CGACAATGTAACATTCTGCAC	0.577000														4			5		0	0	1	0	0
PSG9	5678	broad.mit.edu	37	19	43757796	43757796	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:43757796G>A	uc002owd.4	-	5	1345	c.1246C>T	c.(1246-1248)Ccc>Tcc	p.P416S	PSG9_uc002owe.4_Missense_Mutation_p.P323S|PSG9_uc010xwm.2_Missense_Mutation_p.P323S|PSG9_uc002owf.4_Missense_Mutation_p.P230S	NM_002784	NP_002775	Q00887	PSG9_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 9 (PSG9), mRNA.	416					female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				ccatggcagggacctgattga	0.463000														44			21		0	0	1	0	0
CR2	1380	broad.mit.edu	37	1	207643049	207643049	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:207643049G>A	uc001hfw.3	+	5	946	c.827G>A	c.(826-828)tGc>tAc	p.C276Y	CR2_uc001hfv.3_Missense_Mutation_p.C276Y|CR2_uc009xch.3_Missense_Mutation_p.C276Y|CR2_uc009xci.1_5'Flank	NM_001877	NP_001868	P20023	CR2_HUMAN	Homo sapiens complement component (3d/Epstein Barr virus) receptor 2 (CR2), transcript variant 2, mRNA.	276	Sushi 5.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						GAAATTTTTTGCCCATCACCT	0.428000														75			13		0	0	1	0	0
VPS28	51160	broad.mit.edu	37	8	145651093	145651093	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:145651093T>C	uc003zct.1	-	4	257	c.167A>G	c.(166-168)tAc>tGc	p.Y56C	VPS28_uc003zcs.1_Missense_Mutation_p.Y56C	NM_183057	NP_898880	Q9UK41	VPS28_HUMAN	Homo sapiens vacuolar protein sorting 28 homolog (S. cerevisiae) (VPS28), transcript variant 2, mRNA.	56	VPS28 N-terminal.				cellular membrane organization|endosome transport|negative regulation of protein ubiquitination|protein transport	cytosol|late endosome membrane|plasma membrane	protein binding			kidney(1)|large_intestine(1)|lung(4)|prostate(1)	7	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			GTCCTTGATGTAGGCCTTCTC	0.612000														26			15		0	0	1	0	0
XDH	7498	broad.mit.edu	37	2	31637509	31637509	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:31637509G>T	uc002rnv.1	-	0	103	c.24C>A	c.(22-24)ttC>ttA	p.F8L	Mir_584_uc021vfp.1_5'Flank	NM_000379	NP_000370	P47989	XDH_HUMAN	Homo sapiens xanthine dehydrogenase (XDH), mRNA.	8	2Fe-2S ferredoxin-type.				purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	CATTCACAAAGAAAACCAATT	0.498000														106			32		2.48696e-23	3.23913e-23	1	1	0
HEATR5B	54497	broad.mit.edu	37	2	37297432	37297432	+	Nonsense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:37297432C>A	uc002rpp.1	-	6	964	c.868G>T	c.(868-870)Gga>Tga	p.G290*		NM_019024	NP_061897	Q9P2D3	HTR5B_HUMAN	Homo sapiens HEAT repeat containing 5B (HEATR5B), mRNA.	290							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				AACATTTCTCCACCGCTCTTT	0.453000														139			12		9.31168e-06	1.03939e-05	1	1	0
SECISBP2	79048	broad.mit.edu	37	9	91940432	91940432	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:91940432C>A	uc004aqj.1	+	2	353	c.273C>A	c.(271-273)gcC>gcA	p.A91A	SECISBP2_uc010mqn.1_Silent_p.A91A|SECISBP2_uc004aqi.1_Intron|SECISBP2_uc010mqo.1_5'UTR|SECISBP2_uc004aqk.1_Intron|SECISBP2_uc011ltk.1_Silent_p.A91A|SECISBP2_uc011ltl.1_Silent_p.A23A	NM_024077	NP_076982	Q96T21	SEBP2_HUMAN	Homo sapiens SECIS binding protein 2 (SECISBP2), mRNA.	91					translation	nucleus	mRNA 3'-UTR binding	p.A91S(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2)	32						ATCCATATGCCTATTCTCCTT	0.398000														182			22		0.000229342	0.000247496	1	1	0
XRN1	54464	broad.mit.edu	37	3	142030504	142030504	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:142030504G>T	uc003eus.3	-	41	5037	c.4970C>A	c.(4969-4971)tCt>tAt	p.S1657Y	XRN1_uc010huu.3_Missense_Mutation_p.S1111Y|XRN1_uc003eut.3_Missense_Mutation_p.S1644Y|XRN1_uc003euu.3_Missense_Mutation_p.S1645Y	NM_019001	NP_061874	Q8IZH2	XRN1_HUMAN	Homo sapiens 5'-3' exoribonuclease 1 (XRN1), transcript variant 1, mRNA.	1657					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	Golgi apparatus|cytosol|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|RNA binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						AGCAATCGGAGAGGACTTCAA	0.448000														94			6		0.00198382	0.00208369	1	1	0
ACD	65057	broad.mit.edu	37	16	67692112	67692112	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:67692112G>T	uc002etq.4	-	9	1578	c.1241C>A	c.(1240-1242)cCc>cAc	p.P414H	ACD_uc002etp.4_Missense_Mutation_p.P411H|ACD_uc002etr.4_Missense_Mutation_p.P411H|ACD_uc010vjt.1_3'UTR|PARD6A_uc002ett.3_5'Flank|PARD6A_uc002ets.3_5'Flank	NM_001082486	NP_001075955	Q96AP0	ACD_HUMAN	Homo sapiens adrenocortical dysplasia homolog (mouse) (ACD), transcript variant 1, mRNA.	414	Ser-rich.				intracellular protein transport|negative regulation of telomere maintenance via telomerase|positive regulation of single-stranded telomeric DNA binding|positive regulation of telomerase activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|telomere assembly	nuclear telomere cap complex|nucleoplasm	DNA binding|DNA polymerase binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		TGGGGACCTGGGGGTCAGGGT	0.667000														39			34		1.69901e-12	2.09735e-12	1	1	0
GCC1	79571	broad.mit.edu	37	7	127224742	127224742	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:127224742C>T	uc003vma.3	-	0	913	c.495G>A	c.(493-495)ttG>ttA	p.L165L		NM_024523	NP_078799	Q96CN9	GCC1_HUMAN	Homo sapiens GRIP and coiled-coil domain containing 1 (GCC1), mRNA.	165						Golgi membrane|plasma membrane	protein binding	p.Q164*(1)		breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						TCAAAGTAGCCAACTGAGTCT	0.522000														78			30		0	0	1	0	0
REXO4	57109	broad.mit.edu	37	9	136282769	136282769	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:136282769A>C	uc004cdm.3	-	0	396	c.196T>G	c.(196-198)Ttt>Gtt	p.F66V	ADAMTS13_uc004cdp.4_Intron|REXO4_uc011mde.2_5'UTR|REXO4_uc011mdf.2_5'UTR|REXO4_uc004cdn.3_5'UTR	NM_020385	NP_065118	Q9GZR2	REXO4_HUMAN	Homo sapiens REX4, RNA exonuclease 4 homolog (S. cerevisiae) (REXO4), mRNA.	66						nucleolus	exonuclease activity|nucleic acid binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	15				OV - Ovarian serous cystadenocarcinoma(145;8.58e-08)|Epithelial(140;9.55e-07)|all cancers(34;1.05e-05)		TTTTGAGAAAAGTCTTCTGGT	0.587000														111			14		0	0	1	0	0
CKMT2	1160	broad.mit.edu	37	5	80559355	80559355	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:80559355C>T	uc003khc.4	+	9	1302	c.1060C>T	c.(1060-1062)Cgt>Tgt	p.R354C	RNU5E-1_uc011cto.1_Intron|CKMT2_uc010jaq.3_Missense_Mutation_p.R354C|CKMT2_uc003khd.4_Missense_Mutation_p.R354C|LOC100131067_uc003khe.2_Intron|LOC100131067_uc003khf.2_Intron|LOC100131067_uc003khg.2_Intron	NM_001825	NP_001816	P17540	KCRS_HUMAN	Homo sapiens creatine kinase, mitochondrial 2 (sarcomeric) (CKMT2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	354	Phosphagen kinase C-terminal.				creatine metabolic process|muscle contraction	mitochondrial inner membrane	ATP binding|creatine kinase activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(4)|urinary_tract(1)	17		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0336)		OV - Ovarian serous cystadenocarcinoma(54;2.29e-44)|Epithelial(54;1.05e-38)|all cancers(79;4.15e-34)	Creatine(DB00148)	ACTCCAGAAGCGTGGCACAGG	0.453000														55			34		0	0	1	0	0
SPRED2	200734	broad.mit.edu	37	2	65540885	65540885	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:65540885C>T	uc002sdr.4	-	5	1542	c.1007G>A	c.(1006-1008)tGc>tAc	p.C336Y	SPRED2_uc010fcw.3_Missense_Mutation_p.C333Y	NM_181784	NP_861449	Q7Z698	SPRE2_HUMAN	Homo sapiens sprouty-related, EVH1 domain containing 2 (SPRED2), transcript variant 1, mRNA.	336	SPR.				inactivation of MAPK activity|multicellular organismal development	transport vesicle membrane	stem cell factor receptor binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(7)|ovary(2)|upper_aerodigestive_tract(3)	34						CCGGCGGATGCAAGTTCTCAC	0.627000														45			23		0	0	1	0	0
CUX1	1523	broad.mit.edu	37	7	101891755	101891755	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:101891755C>T	uc003uys.4	+	23	4111	c.3984C>T	c.(3982-3984)ggC>ggT	p.G1328G	CUX1_uc003uyw.3_Intron|CUX1_uc003uyv.3_Intron|CUX1_uc003uyt.3_Intron|CUX1_uc003uyu.3_Intron|CUX1_uc011kkn.2_Intron|CUX1_uc003uyx.4_Silent_p.G1317G	NM_001202543	NP_001189472	P39880	CUX1_HUMAN	Homo sapiens cut-like homeobox 1 (CUX1), transcript variant 4, mRNA.	1317					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						GCCAGGCGGGCGCCAGCGACT	0.711000														7			5		0	0	1	0	0
FAM208A	23272	broad.mit.edu	37	3	56667283	56667283	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:56667283G>T	uc003did.4	-	16	3454	c.3353C>A	c.(3352-3354)cCt>cAt	p.P1118H	FAM208A_uc003dib.4_Missense_Mutation_p.P237H|FAM208A_uc003dic.4_Missense_Mutation_p.P742H|FAM208A_uc003die.4_Missense_Mutation_p.P1179H	NM_015224	NP_056039	Q9UK61	CC063_HUMAN	Homo sapiens family with sequence similarity 208, member A (FAM208A), transcript variant 2, mRNA.	1179										NS(1)|breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(11)|prostate(3)|skin(1)	32						CATATCACCAGGTACAATATG	0.418000														164			14		3.27435e-08	3.82583e-08	1	1	0
OVCH1	341350	broad.mit.edu	37	12	29624883	29624883	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:29624883A>G	uc001rix.1	-	15	1708	c.1708T>C	c.(1708-1710)Tgg>Cgg	p.W570R		NM_183378	NP_899234	Q7RTY7	OVCH1_HUMAN	Homo sapiens ovochymase 1 (OVCH1), mRNA.	570					proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					CTGGAAAGCCACTGGGGACTA	0.498000														14			6		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141072547	141072547	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:141072547G>A	uc002tvj.1	-	82	13734	c.12762C>T	c.(12760-12762)agC>agT	p.S4254S		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	4254	EGF-like 11.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GGCAGTAGTTGCTACAGTGGT	0.373000										TSP Lung(27;0.18)				33			16		0	0	1	0	0
RPAP2	79871	broad.mit.edu	37	1	92767053	92767053	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:92767053C>T	uc001dot.2	+	2	249	c.140C>T	c.(139-141)gCt>gTt	p.A47V	RPAP2_uc009wdh.2_Non-coding_Transcript|GLMN_uc001dor.3_5'Flank|GLMN_uc009wdg.3_5'Flank|GLMN_uc001dos.3_5'Flank	NM_024813	NP_079089	Q8IXW5	RPAP2_HUMAN	Homo sapiens RNA polymerase II associated protein 2 (RPAP2), mRNA.	47						integral to membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	22		all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222)		all cancers(265;0.00647)|GBM - Glioblastoma multiforme(16;0.0234)|Epithelial(280;0.115)		CTAGAAGCAGCTGTGAGAAAG	0.323000														54			20		0	0	1	0	0
CLEC1A	51267	broad.mit.edu	37	12	10225962	10225962	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:10225962T>C	uc001qxb.3	-	4	676	c.592A>G	c.(592-594)Aca>Gca	p.T198A	CLEC1A_uc001qxd.3_Missense_Mutation_p.T155A|CLEC1A_uc010sgx.2_Missense_Mutation_p.T96A	NM_016511	NP_057595	Q8NC01	CLC1A_HUMAN	Homo sapiens C-type lectin domain family 1, member A (CLEC1A), mRNA.	198	C-type lectin.				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane|intracellular	sugar binding|transmembrane receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	23						AAAAGCCCTGTCCAATAAGAG	0.463000														24			27		0	0	1	0	0
MAGEE1	57692	broad.mit.edu	37	X	75648782	75648782	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:75648782G>A	uc004ecm.2	+	0	737	c.459G>A	c.(457-459)ccG>ccA	p.P153P		NM_020932	NP_065983	Q9HCI5	MAGE1_HUMAN	Homo sapiens melanoma antigen family E, 1 (MAGEE1), mRNA.	153	Pro-rich.					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						CCTCCGTGCCGCCCACCGCCT	0.672000														18			20		0	0	1	0	0
PALB2	79728	broad.mit.edu	37	16	23646985	23646985	+	Missense_Mutation	SNP	T	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:23646985T>A	uc002dlx.1	-	3	1082	c.882A>T	c.(880-882)aaA>aaT	p.K294N		NM_024675	NP_078951	Q86YC2	PALB2_HUMAN	Homo sapiens partner and localizer of BRCA2 (PALB2), mRNA.	294	Interaction with BRCA1.				double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		CAGTCATTTTTTTGCCTTGTG	0.368000			"""F, N, Mis"""			"""Wilms tumor, medulloblastoma, AML ,breast"""		Involved in tolerance or repair of DNA crosslinks						119			9		0	0	1	0	0
RAVER2	55225	broad.mit.edu	37	1	65234399	65234399	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:65234399C>T	uc001dbs.2	+	1	388	c.310C>T	c.(310-312)Cga>Tga	p.R104*		NM_018211	NP_060681	Q9HCJ3	RAVR2_HUMAN	Homo sapiens ribonucleoprotein, PTB-binding 2 (RAVER2), mRNA.	104	RRM 1.					cytoplasm|nucleus	RNA binding|nucleotide binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						CAGAAATAAACGAACAGGTAA	0.299000														56			18		0	0	1	0	0
SNX15	29907	broad.mit.edu	37	11	64806070	64806070	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:64806070G>A	uc001oci.4	+	9	1345	c.691G>A	c.(691-693)Gtg>Atg	p.V231M	SNX15_uc001ock.3_Intron|SAC3D1_uc001ocm.3_5'Flank	NM_013306	NP_037438	Q9NRS6	SNX15_HUMAN	Homo sapiens sorting nexin 15 (SNX15), transcript variant A, mRNA.	231					cell communication|intracellular protein transport	cytoplasmic vesicle membrane|cytosol	phosphatidylinositol binding|protein transporter activity	p.H230D(1)		endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14						CCCCACCCATGTGGCTGAGCT	0.642000														21			8		0	0	1	0	0
ZNF562	54811	broad.mit.edu	37	19	9763660	9763660	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9763660T>C	uc002mly.3	-	5	1462	c.1246A>G	c.(1246-1248)Agt>Ggt	p.S416G	ZNF562_uc010xks.2_Missense_Mutation_p.S416G|ZNF562_uc002mlx.3_Missense_Mutation_p.S344G|ZNF562_uc010xkt.2_Missense_Mutation_p.S379G|ZNF562_uc010xku.2_Missense_Mutation_p.S347G|ZNF562_uc010xkv.1_Missense_Mutation_p.S415G|ZNF562_uc010xkw.1_Missense_Mutation_p.S300G	NM_001130031	NP_001123504	Q6V9R5	ZN562_HUMAN	Homo sapiens zinc finger protein 562 (ZNF562), transcript variant 1, mRNA.	416					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	17						AAATGTTTACTACGATGGGAA	0.403000														39			18		0	0	1	0	0
TDRD1	56165	broad.mit.edu	37	10	115962043	115962043	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:115962043G>A	uc001lbg.1	+	5	835	c.682G>A	c.(682-684)Gag>Aag	p.E228K	TDRD1_uc001lbf.3_Missense_Mutation_p.E219K|TDRD1_uc001lbh.1_Missense_Mutation_p.E219K|TDRD1_uc001lbi.1_Missense_Mutation_p.E219K|TDRD1_uc010qsc.2_5'Flank|TDRD1_uc001lbj.3_5'Flank	NM_198795	NP_942090	Q9BXT4	TDRD1_HUMAN	Homo sapiens tudor domain containing 1 (TDRD1), mRNA.	228					DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		AAAGGATGTGGAGGTAAACAA	0.274000														23			15		0	0	1	0	0
CCKAR	886	broad.mit.edu	37	4	26483461	26483461	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:26483461G>T	uc003gse.1	-	4	1239	c.1086C>A	c.(1084-1086)tcC>tcA	p.S362S		NM_000730	NP_000721	P32238	CCKAR_HUMAN	Homo sapiens cholecystokinin A receptor (CCKAR), mRNA.	362					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity			NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	TGACGCAGGAGGAGGTGTAGG	0.632000														67			35		2.42023e-17	3.08103e-17	1	1	0
ZNF626	199777	broad.mit.edu	37	19	20808276	20808276	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:20808276C>T	uc002npb.1	-	3	557	c.407G>A	c.(406-408)tGt>tAt	p.C136Y	ZNF626_uc002npc.1_Missense_Mutation_p.C60Y	NM_001076675	NP_001070143	Q68DY1	ZN626_HUMAN	Homo sapiens zinc finger protein 626 (ZNF626), transcript variant 1, mRNA.	136					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|lung(3)|skin(1)	6						AGTTGTCAAACATTGGTTAAG	0.328000														37			24		0	0	1	0	0
ATP10B	23120	broad.mit.edu	37	5	160033805	160033805	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:160033805G>A	uc003lym.1	-	18	3974	c.3127C>T	c.(3127-3129)Cga>Tga	p.R1043*	ATP10B_uc010jit.1_Nonsense_Mutation_p.R360*	NM_025153	NP_079429	O94823	AT10B_HUMAN	Homo sapiens ATPase, class V, type 10B (ATP10B), mRNA.	1043					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AACTTGTCTCGCACCAGCTTG	0.522000														47			5		0	0	1	0	0
HECW1	23072	broad.mit.edu	37	7	43508613	43508613	+	Missense_Mutation	SNP	A	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:43508613A>T	uc003tid.1	+	15	3613	c.3008A>T	c.(3007-3009)aAc>aTc	p.N1003I	HECW1_uc011kbi.1_Missense_Mutation_p.N969I	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 (HECW1), mRNA.	1003					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						TACCAGCACAACCGGGACTTG	0.532000														31			66		0	0	1	0	0
CPNE7	27132	broad.mit.edu	37	16	89655141	89655141	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:89655141A>G	uc002fnp.3	+	11	1341	c.1211A>G	c.(1210-1212)tAc>tGc	p.Y404C	CPNE7_uc002fnq.3_Missense_Mutation_p.Y329C	NM_014427	NP_055242	Q9UBL6	CPNE7_HUMAN	Homo sapiens copine VII (CPNE7), transcript variant 2, mRNA.	404	VWFA.				lipid metabolic process		transporter activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)	17		all_hematologic(23;0.0748)		all cancers(4;3.63e-08)|OV - Ovarian serous cystadenocarcinoma(4;1.7e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0147)		TCCCTGCACTACATCAACCCC	0.647000														27			9		0	0	1	0	0
HIVEP1	3096	broad.mit.edu	37	6	12122570	12122570	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:12122570T>C	uc003nac.3	+	3	2721	c.2542T>C	c.(2542-2544)Tca>Cca	p.S848P	HIVEP1_uc011diq.2_Non-coding_Transcript	NM_002114	NP_002105	P15822	ZEP1_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 1 (HIVEP1), mRNA.	848					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				CACAGGTTATTCAGCAGTACC	0.398000														132			10		0	0	1	0	0
RPGRIP1L	23322	broad.mit.edu	37	16	53691517	53691517	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:53691517G>T	uc002ehp.3	-	12	1493	c.1429C>A	c.(1429-1431)Ctt>Att	p.L477I	RPGRIP1L_uc002eho.4_Missense_Mutation_p.L477I|RPGRIP1L_uc010vgy.2_Missense_Mutation_p.L477I|RPGRIP1L_uc010cbx.3_Missense_Mutation_p.L477I|RPGRIP1L_uc010vgz.1_Missense_Mutation_p.L477I	NM_015272	NP_056087	Q68CZ1	FTM_HUMAN	Homo sapiens RPGRIP1-like (RPGRIP1L), transcript variant 1, mRNA.	477					negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding			endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				AAAAAGGAAAGGTCTCCATTT	0.313000														31			16		1.02788e-11	1.25893e-11	1	1	0
MN1	4330	broad.mit.edu	37	22	28193733	28193733	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:28193733C>T	uc003adj.3	-	0	3754	c.2799G>A	c.(2797-2799)aaG>aaA	p.K933K		NM_002430	NP_002421	Q10571	MN1_HUMAN	Homo sapiens meningioma (disrupted in balanced translocation) 1 (MN1), mRNA.	933							binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						CGGAGACCGGCTTGCCGTCAT	0.687000			T	ETV6	"""AML, meningioma"""									7			7		0	0	1	0	0
DHRS11	79154	broad.mit.edu	37	17	34954662	34954662	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:34954662A>G	uc002hnd.3	+	2	642	c.428A>G	c.(427-429)gAt>gGt	p.D143G		NM_024308	NP_077284	Q6UWP2	DHR11_HUMAN	Homo sapiens dehydrogenase/reductase (SDR family) member 11 (DHRS11), mRNA.	143						extracellular region	binding|oxidoreductase activity			endometrium(1)|lung(4)	5						AATGTGGACGATGGGCACATC	0.577000														58			33		0	0	1	0	0
MECOM	2122	broad.mit.edu	37	3	168840452	168840452	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:168840452C>A	uc011bpj.1	-	5	1297	c.894G>T	c.(892-894)aaG>aaT	p.K298N	MECOM_uc010hwk.1_Missense_Mutation_p.K133N|MECOM_uc003ffj.3_Missense_Mutation_p.K174N|MECOM_uc003ffi.3_Missense_Mutation_p.K110N|MECOM_uc011bpi.1_Missense_Mutation_p.K110N|MECOM_uc003ffn.3_Missense_Mutation_p.K110N|MECOM_uc003ffk.2_Missense_Mutation_p.K110N|MECOM_uc003ffl.2_Missense_Mutation_p.K270N|MECOM_uc011bpk.1_Missense_Mutation_p.K110N|MECOM_uc010hwn.2_Missense_Mutation_p.K298N|MECOM_uc003ffm.1_Missense_Mutation_p.K174N	NM_004991	NP_004982	Q13465	MDS1_HUMAN	Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA.	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						AGTTAAATGCCTTGGGACACT	0.398000														47			31		8.4185e-14	1.05054e-13	1	1	0
PCNT	5116	broad.mit.edu	37	21	47851752	47851752	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:47851752C>T	uc002zji.4	+	37	8481	c.8374C>T	c.(8374-8376)Cag>Tag	p.Q2792*	PCNT_uc002zjj.3_Nonsense_Mutation_p.Q2674*	NM_006031	NP_006022	O95613	PCNT_HUMAN	Homo sapiens pericentrin (PCNT), mRNA.	2792			Q -> R (in dbSNP:rs2073376).		G2/M transition of mitotic cell cycle|cilium assembly	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					CGCTCTGCTGCAGAAGCTGAA	0.612000														11			16		0	0	1	0	0
POLE	5426	broad.mit.edu	37	12	133201533	133201533	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:133201533G>A	uc001uks.1	-	47	6749	c.6705C>T	c.(6703-6705)taC>taT	p.Y2235Y	POLE_uc001ukq.1_Silent_p.Y445Y|POLE_uc001ukr.1_Silent_p.Y1039Y|POLE_uc010tbq.1_Non-coding_Transcript	NM_006231	NP_006222	Q07864	DPOE1_HUMAN	Homo sapiens polymerase (DNA directed), epsilon (POLE), mRNA.	2235					DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity|chromatin binding|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		CGCAGCTGCAGTACACAGGCA	0.672000								DNA polymerases (catalytic subunits)						22			18		0	0	1	0	0
A2M	2	broad.mit.edu	37	12	9225448	9225448	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:9225448T>C	uc001qvk.1	-	29	3889	c.3776A>G	c.(3775-3777)cAt>cGt	p.H1259R	A2M_uc009zgk.1_Missense_Mutation_p.H1109R	NM_000014	NP_000005	P01023	A2MG_HUMAN	Homo sapiens alpha-2-macroglobulin (A2M), mRNA.	1259					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	GTPase activator activity|enzyme binding|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	GGACAGAGCATGGAGAGCCAC	0.478000														21			5		0	0	1	0	0
OR10Q1	219960	broad.mit.edu	37	11	57995808	57995808	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:57995808G>A	uc010rkd.2	-	0	583	c.540C>T	c.(538-540)aaC>aaT	p.N180N		NM_001004471	NP_001004471	Q8NGQ4	O10Q1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily Q, member 1 (OR10Q1), mRNA.	180					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35		Breast(21;0.0589)				AGAGGAAGTGGTTGATTTCCT	0.637000														20			23		0	0	1	0	0
C4orf21	55345	broad.mit.edu	37	4	113540640	113540640	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:113540640C>T	uc003iau.3	-	5	769	c.558G>A	c.(556-558)gaG>gaA	p.E186E	C4orf21_uc003iaw.3_Silent_p.E186E	NM_018392	NP_060862	Q86YA3	CD021_HUMAN	Homo sapiens chromosome 4 open reading frame 21 (C4orf21), mRNA.	186										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		TGGCATTTCTCTCCCTGTTCT	0.403000														42			25		0	0	1	0	0
ESRP2	80004	broad.mit.edu	37	16	68266665	68266665	+	Splice_Site	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:68266665A>G	uc010cfa.1	-	6	898	c.710_splice	c.e6+1	p.C237_splice	ESRP2_uc002evp.1_Splice_Site|ESRP2_uc002evq.1_Splice_Site_p.C237_splice	NM_024939	NP_079215	Q9H6T0	ESRP2_HUMAN	Homo sapiens epithelial splicing regulatory protein 2 (ESRP2), mRNA.	237					RNA splicing|mRNA processing|regulation of RNA splicing	nucleus	mRNA binding|nucleotide binding			NS(1)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	16						CACACTCACCAAGGCCCCGTC	0.577000														96			43		0	0	1	0	0
ADAM30	11085	broad.mit.edu	37	1	120437333	120437333	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:120437333T>C	uc001eij.3	-	0	1815	c.1627A>G	c.(1627-1629)Aat>Gat	p.N543D		NM_021794	NP_068566	Q9UKF2	ADA30_HUMAN	Homo sapiens ADAM metallopeptidase domain 30 (ADAM30), mRNA.	543	Cys-rich.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		TTTTTAAAATTTCGAATTCCT	0.378000														87			6		0	0	1	0	0
GPS2	2874	broad.mit.edu	37	17	7227784	7227784	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7227784G>A	uc002gga.1	-	9	1836	c.1829C>T	c.(1828-1830)aCt>aTt	p.T610I	GPS2_uc002ggb.1_Missense_Mutation_p.T610I|GPS2_uc002ggc.1_5'UTR	NM_032442	NP_115818	Q13227	GPS2_HUMAN	Homo sapiens neuralized homolog 4 (Drosophila) (NEURL4), transcript variant 1, mRNA.	0					JNK cascade|cell cycle|inactivation of MAPK activity|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter	transcriptional repressor complex	GTPase inhibitor activity|protein binding|transcription corepressor activity			breast(1)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(4)	24		Prostate(122;0.157)				CCCATTCCCAGTCATCATCCA	0.627000											OREG0024134	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		28			5		0	0	1	0	0
TPST1	8460	broad.mit.edu	37	7	65751514	65751514	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:65751514G>A	uc003tuw.3	+	2	1214	c.862G>A	c.(862-864)Gac>Aac	p.D288N	TPST1_uc010kzy.2_Non-coding_Transcript	NM_003596	NP_003587	O60507	TPST1_HUMAN	Homo sapiens tyrosylprotein sulfotransferase 1 (TPST1), mRNA.	288					inflammatory response|peptidyl-tyrosine sulfation	Golgi membrane|integral to membrane|membrane fraction	protein-tyrosine sulfotransferase activity			NS(1)|biliary_tract(1)|breast(1)|kidney(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						GAGATCTACAGACCAAGTAAT	0.323000														26			34		0	0	1	0	0
PAQR9	344838	broad.mit.edu	37	3	142681702	142681702	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:142681702C>T	uc003evg.3	-	0	477	c.477G>A	c.(475-477)gcG>gcA	p.A159A	PAQR9_uc003evf.1_5'Flank	NM_198504	NP_940906	Q6ZVX9	PAQR9_HUMAN	Homo sapiens progestin and adipoQ receptor family member IX (PAQR9), mRNA.	159						integral to membrane	receptor activity	p.A159T(2)|p.Y158*(1)|p.Y158Y(1)		endometrium(2)|large_intestine(7)|lung(12)|prostate(1)	22						AGCTGATGGACGCGTAGTCCA	0.612000														11			6		0	0	1	0	0
CAMK4	814	broad.mit.edu	37	5	110784900	110784900	+	Splice_Site	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:110784900C>T	uc003kpf.3	+	7	860	c.625_splice	c.e7+1	p.A209_splice	CAMK4_uc010jbv.3_Splice_Site_p.A12_splice	NM_001744	NP_001735	Q16566	KCC4_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase IV (CAMK4), mRNA.	209	Protein kinase.				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	p.C208C(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		CAGGGTACTGCGGTATGCTCT	0.274000														25			6		0	0	1	0	0
ZNF506	440515	broad.mit.edu	37	19	19917798	19917798	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:19917798A>G	uc010eci.2	-	1	231	c.83T>C	c.(82-84)cTa>cCa	p.L28P	ZNF506_uc021urk.1_Non-coding_Transcript|ZNF506_uc002noh.3_Missense_Mutation_p.L28P|ZNF506_uc010ecj.2_Non-coding_Transcript	NM_001099269	NP_001092739	Q5JVG8	ZN506_HUMAN	Homo sapiens zinc finger protein 506 (ZNF506), transcript variant 1, mRNA.	28	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(7)|lung(3)|skin(1)|stomach(1)	14						ATCCCTATATAGATTCCGCTG	0.398000														111			15		0	0	1	0	0
NUP210L	91181	broad.mit.edu	37	1	154125288	154125288	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:154125288A>G	uc001fdw.3	-	1	336	c.264T>C	c.(262-264)tgT>tgC	p.C88C	NUP210L_uc010peh.2_Silent_p.C88C	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	Homo sapiens nucleoporin 210kDa-like (NUP210L), transcript variant 1, mRNA.	88						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			CTTTTTGGGAACACAAGGTGC	0.413000														40			31		0	0	1	0	0
SCYL3	57147	broad.mit.edu	37	1	169831808	169831808	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:169831808C>A	uc001ggs.2	-	9	1284	c.1086G>T	c.(1084-1086)gaG>gaT	p.E362D	SCYL3_uc010plw.1_Missense_Mutation_p.E8D|SCYL3_uc001ggt.2_Missense_Mutation_p.E362D	NM_181093	NP_851607	Q8IZE3	PACE1_HUMAN	Homo sapiens SCY1-like 3 (S. cerevisiae) (SCYL3), transcript variant 2, mRNA.	362					cell migration	Golgi apparatus|lamellipodium	ATP binding|protein binding|protein kinase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CCACGTAGGCCTCGATGTGAG	0.542000														294			26		1.42536e-11	1.74426e-11	1	1	0
RGS12	6002	broad.mit.edu	37	4	3418809	3418809	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:3418809C>T	uc003ggw.3	+	7	3501	c.2597C>T	c.(2596-2598)aCg>aTg	p.T866M	RGS12_uc010ics.1_Missense_Mutation_p.T65M|RGS12_uc003ggv.3_Missense_Mutation_p.T866M|RGS12_uc003ggy.1_Missense_Mutation_p.T264M|RGS12_uc010ict.1_Missense_Mutation_p.T218M|RGS12_uc003ggz.3_Missense_Mutation_p.T218M|RGS12_uc010icu.1_Missense_Mutation_p.T65M|RGS12_uc011bvs.2_Missense_Mutation_p.T208M|RGS12_uc003gha.3_Missense_Mutation_p.T208M|RGS12_uc010icv.3_Missense_Mutation_p.T65M|RGS12_uc003ghb.2_Missense_Mutation_p.T65M	NM_198229	NP_937872	O14924	RGS12_HUMAN	Homo sapiens regulator of G-protein signaling 12 (RGS12), transcript variant 1, mRNA.	866						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		AGTGTGTCCACGCCAAAAAAG	0.637000														17			17		0	0	1	0	0
ADRBK1	156	broad.mit.edu	37	11	67047315	67047315	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:67047315C>T	uc009yrn.1	+	5	713	c.447C>T	c.(445-447)taC>taT	p.Y149Y		NM_001619	NP_001610	P25098	ARBK1_HUMAN	Homo sapiens adrenergic, beta, receptor kinase 1 (ADRBK1), mRNA.	149	N-terminal.|RGS.				activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway	cytosol|soluble fraction	ATP binding|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|alpha-2A adrenergic receptor binding|beta-adrenergic receptor kinase activity|signal transducer activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	CTTAGCCATACATCGAAGAGA	0.592000														31			21		0	0	1	0	0
SENP6	26054	broad.mit.edu	37	6	76412676	76412676	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:76412676G>A	uc003pid.4	+	18	3223	c.2604G>A	c.(2602-2604)gcG>gcA	p.A868A	SENP6_uc003pie.4_Silent_p.A861A|SENP6_uc010kbf.3_Intron	NM_015571	NP_056386	Q9GZR1	SENP6_HUMAN	Homo sapiens SUMO1/sentrin specific peptidase 6 (SENP6), transcript variant 1, mRNA.	868	Protease.				proteolysis	cytoplasm|nucleus	cysteine-type peptidase activity			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				ATCATACTGCGAGTGAAAATG	0.358000														88			66		0	0	1	0	0
HNRNPUL1	11100	broad.mit.edu	37	19	41787069	41787069	+	Splice_Site	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:41787069C>T	uc002oqb.4	+	7	1176	c.887_splice	c.e7-1	p.G296_splice	HNRNPUL1_uc002opz.4_Splice_Site_p.G196_splice|HNRNPUL1_uc002oqa.4_Splice_Site_p.G196_splice|HNRNPUL1_uc010ehm.3_Splice_Site_p.G296_splice|HNRNPUL1_uc002oqc.4_Intron|HNRNPUL1_uc002oqe.4_Intron|HNRNPUL1_uc002oqd.4_Splice_Site_p.G196_splice|HNRNPUL1_uc010ehn.3_Splice_Site_p.G196_splice|HNRNPUL1_uc010xvy.2_Splice_Site_p.G196_splice|HNRNPUL1_uc010ehp.3_Splice_Site_p.G152_splice|HNRNPUL1_uc010ehl.1_Splice_Site_p.G196_splice	NM_007040	NP_653333	Q9BUJ2	HNRL1_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein U-like 1 (HNRNPUL1), transcript variant 1, mRNA.	296	B30.2/SPRY.|Necessary for interaction with TP53.				nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	RNA binding|enzyme binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	29						TTCCGTCAGGCGAAGAGCCTT	0.438000														21			24		0	0	1	0	0
ASB13	79754	broad.mit.edu	37	10	5693263	5693263	+	Missense_Mutation	SNP	C	T	T	rs149846489		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:5693263C>T	uc001iig.2	-	2	339	c.295G>A	c.(295-297)Gag>Aag	p.E99K	ASB13_uc001iih.2_Non-coding_Transcript|ASB13_uc001iii.2_Intron|ASB13_uc009xic.2_Missense_Mutation_p.E99K	NM_024701	NP_078977	Q8WXK3	ASB13_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 13 (ASB13), transcript variant 1, mRNA.	99					intracellular signal transduction		protein binding			NS(1)|endometrium(3)|lung(3)|ovary(1)	8				GBM - Glioblastoma multiforme(2;9.59e-09)		TTCACACACTCGATGCTGCCC	0.622000														26			18		0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10397683	10397683	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:10397683T>C	uc002gmo.3	-	38	5749	c.5655A>G	c.(5653-5655)caA>caG	p.Q1885Q	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	1885						muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CTTCTTCAGCTTGTCTCTTGT	0.428000														97			10		0	0	1	0	0
ZNF525	170958	broad.mit.edu	37	19	53884421	53884421	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:53884421C>T	uc010eqn.3	+	3	674	c.481C>T	c.(481-483)Ctg>Ttg	p.L161L	ZNF525_uc002qbl.2_Intron|ZNF765_uc010ydx.2_Intron					Homo sapiens zinc finger protein 525 (ZNF525), non-coding RNA.											endometrium(3)|kidney(3)|lung(3)	9						GGATAATTTTCTGAATTATTC	0.373000														38			21		0	0	1	0	0
LOC100507433	100507433	broad.mit.edu	37	19	38090600	38090600	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:38090600G>T	uc002ogq.3	+	2	450	c.83G>T	c.(82-84)aGg>aTg	p.R28M	LOC100507433_uc002ogu.3_Missense_Mutation_p.R28M|LOC100507433_uc010efq.3_Missense_Mutation_p.R28M	NM_152606	NP_689819			Homo sapiens zinc finger protein 540 (ZNF540), transcript variant 2, mRNA.																		ACTACCCAGAGGAAATTGTAC	0.413000														86			11		3.07112e-06	3.45634e-06	1	1	0
L3MBTL1	26013	broad.mit.edu	37	20	42164880	42164880	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:42164880G>A	uc002xkn.1	+	10	1207	c.1076G>A	c.(1075-1077)cGc>cAc	p.R359H	L3MBTL1_uc010zwh.2_Missense_Mutation_p.R668H|L3MBTL1_uc002xkm.3_Missense_Mutation_p.R600H|L3MBTL1_uc010ggl.3_Missense_Mutation_p.R605H|L3MBTL1_uc002xkl.3_Missense_Mutation_p.R600H|L3MBTL1_uc002xko.3_Missense_Mutation_p.R252H	NM_015478	NP_056293	Q9Y468	LMBL1_HUMAN	Homo sapiens l(3)mbt-like 1 (Drosophila) (L3MBTL1), transcript variant I, mRNA.	600					chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis	chromatin|condensed chromosome|nucleoplasm	SAM domain binding|identical protein binding|methylated histone residue binding|nucleosomal histone binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						GCCTCAGCCCGCAAGAAGAAC	0.637000														4			5		0	0	1	0	0
MTMR3	8897	broad.mit.edu	37	22	30416681	30416681	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:30416681C>T	uc003agv.4	+	16	3361	c.3033C>T	c.(3031-3033)tcC>tcT	p.S1011S	MTMR3_uc003agu.4_Silent_p.S1011S|MTMR3_uc003agw.4_Silent_p.S1011S	NM_021090	NP_066576	Q13615	MTMR3_HUMAN	Homo sapiens myotubularin related protein 3 (MTMR3), transcript variant 3, mRNA.	1011					phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			ACCAGCCTTCCCGCAGCCACC	0.572000														16			14		0	0	1	0	0
OSBPL7	114881	broad.mit.edu	37	17	45890677	45890677	+	Silent	SNP	G	A	A	rs139168515	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:45890677G>A	uc002ilx.1	-	15	1895	c.1692C>T	c.(1690-1692)taC>taT	p.Y564Y	OSBPL7_uc002ilw.1_Silent_p.Y126Y	NM_145798	NP_665741	Q9BZF2	OSBL7_HUMAN	Homo sapiens oxysterol binding protein-like 7 (OSBPL7), transcript variant 1, mRNA.	564					lipid transport		lipid binding			autonomic_ganglia(1)|endometrium(6)|kidney(2)|large_intestine(5)|liver(2)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						GCTCACACTCGTAGGTCTCCC	0.627000														21			19		0	0	1	0	0
ENPP2	5168	broad.mit.edu	37	8	120628563	120628563	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:120628563G>A	uc003yos.2	-	7	805	c.719C>T	c.(718-720)gCc>gTc	p.A240V	ENPP2_uc010mdd.2_Missense_Mutation_p.A240V|ENPP2_uc003yot.2_Missense_Mutation_p.A240V	NM_006209	NP_006200	Q13822	ENPP2_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 2 (ENPP2), transcript variant 1, mRNA.	240					G-protein coupled receptor protein signaling pathway|cellular component movement|chemotaxis|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			ATGAAAAGTGGCATCAAATAC	0.363000														56			4		0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195518259	195518259	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:195518259C>T	uc021xjp.1	-	1	348	c.192G>A	c.(190-192)agG>agA	p.R64R	MUC4_uc003fvo.3_Intron|MUC4_uc003fvp.3_Intron|MUC4_uc021xjq.1_5'Flank	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	64					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GATTAGAGGTCCTTGAAGAAG	0.488000														113			53		0	0	1	0	0
MYO9B	4650	broad.mit.edu	37	19	17313002	17313002	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:17313002C>A	uc010eak.3	+	27	4878	c.4726C>A	c.(4726-4728)Ctg>Atg	p.L1576M	MYO9B_uc002nfi.3_Missense_Mutation_p.L1576M|MYO9B_uc002nfj.1_Missense_Mutation_p.L1576M|MYO9B_uc002nfl.1_Missense_Mutation_p.L125M	NM_004145	NP_004136	Q13459	MYO9B_HUMAN	Homo sapiens myosin IXB (MYO9B), transcript variant 1, mRNA.	1576	Tail.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	ADP binding|ATP binding|ATPase activity|Rho GTPase activator activity|actin binding|calmodulin binding|metal ion binding|microfilament motor activity			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						CGTCAGCAACCTGGCCACTGA	0.567000														13			7		5.18039e-06	5.80246e-06	1	1	0
ANKRD11	29123	broad.mit.edu	37	16	89350202	89350202	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:89350202G>T	uc002fmx.1	-	8	3209	c.2748C>A	c.(2746-2748)aaC>aaA	p.N916K	ANKRD11_uc002fmy.1_Missense_Mutation_p.N916K|ANKRD11_uc002fnc.1_Missense_Mutation_p.N916K|ANKRD11_uc002fnb.1_Missense_Mutation_p.N873K	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	Homo sapiens ankyrin repeat domain 11 (ANKRD11), transcript variant 2, mRNA.	916	Lys-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TCTTCTCAGAGTTTTTATCCA	0.552000														66			39		1.47244e-24	1.92332e-24	1	1	0
NR1H3	10062	broad.mit.edu	37	11	47282170	47282170	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:47282170G>A	uc009ylm.3	+	3	693	c.443G>A	c.(442-444)cGc>cAc	p.R148H	NR1H3_uc010rhk.2_Missense_Mutation_p.R154H|NR1H3_uc009yll.2_Missense_Mutation_p.R154H|NR1H3_uc001nek.3_Missense_Mutation_p.R103H|NR1H3_uc001nen.4_Missense_Mutation_p.R148H|NR1H3_uc001nem.3_Missense_Mutation_p.R148H	NM_005693	NP_005684	Q13133	NR1H3_HUMAN	Homo sapiens nuclear receptor subfamily 1, group H, member 3 (NR1H3), transcript variant 1, mRNA.	148					apoptotic cell clearance|cellular response to lipopolysaccharide|cholesterol homeostasis|negative regulation of cholesterol storage|negative regulation of inflammatory response|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of macrophage activation|negative regulation of pancreatic juice secretion|negative regulation of pinocytosis|negative regulation of secretion of lysosomal enzymes|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of cholesterol homeostasis|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor biosynthetic process|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of circadian rhythm|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to progesterone stimulus|triglyceride homeostasis	nuclear chromatin|nucleoplasm	cholesterol binding|steroid hormone receptor activity|sterol response element binding|transcription coactivator activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(5)	20						TACATGCGTCGCAAGTGCCAG	0.622000														8			5		0	0	1	0	0
METAP2	10988	broad.mit.edu	37	12	95887833	95887833	+	Splice_Site	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:95887833C>T	uc001tec.3	+	5	563	c.429_splice	c.e5-1	p.G143_splice	METAP2_uc010suv.2_Splice_Site_p.G120_splice|METAP2_uc001tef.3_Splice_Site_p.G120_splice|METAP2_uc001tee.3_Splice_Site	NM_006838	NP_006829	P50579	AMPM2_HUMAN	Homo sapiens methionyl aminopeptidase 2 (METAP2), mRNA.	143					N-terminal protein amino acid modification|peptidyl-methionine modification|protein processing|proteolysis	cytoplasm	aminopeptidase activity|metal ion binding|metalloexopeptidase activity			endometrium(3)|large_intestine(2)|lung(7)|prostate(1)	13					L-Methionine(DB00134)	ACTCTAAAGGCGAACAGCTGC	0.373000														35			29		0	0	1	0	0
RFX4	5992	broad.mit.edu	37	12	107033141	107033141	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:107033141G>A	uc001tlt.3	+	2	329	c.189G>A	c.(187-189)aaG>aaA	p.K63K	LOC100287944_uc021rdg.1_Intron|RFX4_uc001tlr.3_Silent_p.K54K|RFX4_uc010swv.2_Non-coding_Transcript|RFX4_uc001tls.3_Silent_p.K63K	NM_001206691	NP_001193620	Q33E94	RFX4_HUMAN	Homo sapiens regulatory factor X, 4 (influences HLA class II expression) (RFX4), transcript variant 4, mRNA.	54					transcription, DNA-dependent	nucleus	DNA binding			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						GAGCATCCAAGCCCCACTCCA	0.383000														27			25		0	0	1	0	0
BDP1	55814	broad.mit.edu	37	5	70798476	70798476	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:70798476G>T	uc003kbp.1	+	14	2362	c.2099G>T	c.(2098-2100)aGa>aTa	p.R700I	BDP1_uc003kbn.1_Missense_Mutation_p.R700I|BDP1_uc003kbo.3_Missense_Mutation_p.R700I	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN	Homo sapiens B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB (BDP1), mRNA.	700					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		AAGGCTTTAAGACCTGTACAA	0.383000														20			11		9.05144e-12	1.10939e-11	1	1	0
FLG2	388698	broad.mit.edu	37	1	152327756	152327756	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:152327756G>A	uc001ezw.4	-	2	2579	c.2506C>T	c.(2506-2508)Cat>Tat	p.H836Y	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	836	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTAGACTCATGCTGTCCAAAG	0.512000														184			142		0	0	1	0	0
N4BP1	9683	broad.mit.edu	37	16	48594665	48594665	+	Splice_Site	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:48594665G>A	uc002efp.3	-	2	2126	c.1889_splice	c.e2+1	p.T630_splice		NM_153029	NP_694574	O75113	N4BP1_HUMAN	Homo sapiens NEDD4 binding protein 1 (N4BP1), mRNA.	630					negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination	PML body|nucleolus				breast(3)|kidney(2)|lung(11)|urinary_tract(1)	17		all_cancers(37;0.179)|all_lung(18;0.11)				ATGGACTTACGTAATTGCAAC	0.343000														87			49		0	0	1	0	0
AWAT1	158833	broad.mit.edu	37	X	69459754	69459754	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:69459754C>A	uc004dxy.3	+	5	843	c.802C>A	c.(802-804)Ctg>Atg	p.L268M		NM_001013579	NP_001013597	Q58HT5	AWAT1_HUMAN	Homo sapiens acyl-CoA wax alcohol acyltransferase 1 (AWAT1), mRNA.	268					lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	long-chain-alcohol O-fatty-acyltransferase activity	p.S268C(1)		breast(2)|central_nervous_system(1)|large_intestine(4)|lung(3)|ovary(4)|skin(1)	15						CACTGGGCTCCTGCCATACTC	0.537000														28			22		3.10358e-05	3.42428e-05	1	1	0
DOCK8	81704	broad.mit.edu	37	9	441969	441969	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:441969C>A	uc003zgf.2	+	41	5562	c.5450C>A	c.(5449-5451)cCt>cAt	p.P1817H	DOCK8_uc022bcu.1_Missense_Mutation_p.P1749H|DOCK8_uc010mgv.3_Missense_Mutation_p.P1717H|DOCK8_uc010mgu.3_Missense_Mutation_p.P1119H|DOCK8_uc003zgk.2_Missense_Mutation_p.P1275H	NM_203447	NP_001180465	Q8NF50	DOCK8_HUMAN	Homo sapiens dedicator of cytokinesis 8 (DOCK8), transcript variant 1, mRNA.	1817	DHR-2.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		TACAAAGAGCCTGCAATTACC	0.423000														68			11		6.40141e-05	6.99953e-05	1	1	0
RBL1	5933	broad.mit.edu	37	20	35672549	35672549	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:35672549G>A	uc002xgi.3	-	12	1789	c.1710C>T	c.(1708-1710)caC>caT	p.H570H	RBL1_uc002xgj.1_Silent_p.H570H	NM_002895	NP_002886	P28749	RBL1_HUMAN	Homo sapiens retinoblastoma-like 1 (p107) (RBL1), transcript variant 1, mRNA.	570	Domain A.|Pocket; binds T and E1A.				cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding			NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				GTGCAGAATCGTGACTCCATG	0.458000														30			25		0	0	1	0	0
DAGLB	221955	broad.mit.edu	37	7	6452454	6452454	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:6452454G>A	uc003sqa.3	-	12	1727	c.1557C>T	c.(1555-1557)tgC>tgT	p.C519C	DAGLB_uc003spy.3_Silent_p.C65C|DAGLB_uc003spz.3_Silent_p.C216C|DAGLB_uc011jwt.2_Silent_p.C333C|DAGLB_uc011jwu.2_Silent_p.C390C|DAGLB_uc003sqb.3_Silent_p.C238C|DAGLB_uc003sqc.3_Silent_p.C238C|DAGLB_uc011jwv.2_Non-coding_Transcript|DAGLB_uc003sqd.4_Silent_p.C478C	NM_139179	NP_631918	Q8NCG7	DGLB_HUMAN	Homo sapiens diacylglycerol lipase, beta (DAGLB), transcript variant 1, mRNA.	519					lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|urinary_tract(2)	26		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)		TGGGTTTATTGCAGTGCGCGA	0.572000														6			3		0	0	1	0	0
HNRPLL	92906	broad.mit.edu	37	2	38796365	38796365	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:38796365G>A	uc021vgc.1	-	9	1736	c.1326C>T	c.(1324-1326)ggC>ggT	p.G442G	HNRPLL_uc002rqv.3_Silent_p.G137G|HNRPLL_uc021vgb.1_Silent_p.G437G	NM_138394	NP_612403	Q8WVV9	HNRLL_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein L-like (HNRPLL), transcript variant 1, mRNA.	442					mRNA processing|positive regulation of RNA splicing	nucleus|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding			NS(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)|skin(2)	10		all_hematologic(82;0.248)				TAGATGCTTGGCCAGCACTTG	0.403000														44			35		0	0	1	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102474581	102474581	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:102474581C>T	uc001yks.2	+	28	6048	c.5884C>T	c.(5884-5886)Cgc>Tgc	p.R1962C		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	Homo sapiens dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1), mRNA.	1962	AAA 1 (By similarity).				G2/M transition of mitotic cell cycle|cytoplasmic mRNA processing body assembly|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	Golgi apparatus|centrosome|cytoplasmic dynein complex|cytosol|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CGAGTTCAACCGCCTGGAGGA	0.572000														36			16		0	0	1	0	0
SLITRK6	84189	broad.mit.edu	37	13	86370399	86370399	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:86370399T>C	uc001vll.1	-	1	704	c.245A>G	c.(244-246)aAt>aGt	p.N82S	SLITRK6_uc021rla.1_Missense_Mutation_p.N82S	NM_032229	NP_115605	Q9H5Y7	SLIK6_HUMAN	Homo sapiens SLIT and NTRK-like family, member 6 (SLITRK6), mRNA.	82						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		AGAAAAGTCATTTGTGTGAAG	0.388000														129			12		0	0	1	0	0
TRIM50	135892	broad.mit.edu	37	7	72732972	72732972	+	Missense_Mutation	SNP	C	T	T	rs147367299	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:72732972C>T	uc003txy.1	-	3	776	c.575G>A	c.(574-576)cGc>cAc	p.R192H	FKBP6_uc003twz.2_Intron|TRIM50_uc010lbd.1_Missense_Mutation_p.R192H|TRIM50_uc003txz.1_Missense_Mutation_p.R192H	NM_178125	NP_835226	Q86XT4	TRI50_HUMAN	Homo sapiens tripartite motif containing 50 (TRIM50), mRNA.	192						cytoplasm|intracellular membrane-bounded organelle	ligase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)	20						CTCCAGGCAGCGGGCCTTCTC	0.677000														122			68		0	0	1	0	0
PHKA2	5256	broad.mit.edu	37	X	18966863	18966863	+	Splice_Site	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:18966863G>T	uc004cyv.4	-	5	967	c.537_splice	c.e5+1	p.A179_splice	PHKA2_uc010nfh.1_Splice_Site|PHKA2_uc010nfi.1_Splice_Site_p.A121_splice	NM_000292	NP_000283	P46019	KPB2_HUMAN	Homo sapiens phosphorylase kinase, alpha 2 (liver) (PHKA2), mRNA.	179					glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					GATACTTACAGCGACTTTATA	0.398000														323			22		4.87955e-14	6.09581e-14	1	1	0
FAM214A	56204	broad.mit.edu	37	15	52901467	52901467	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:52901467G>T	uc010ugf.2	-	4	1799	c.1665C>A	c.(1663-1665)tcC>tcA	p.S555S	FAM214A_uc002acg.4_Silent_p.S548S|FAM214A_uc002ach.4_Non-coding_Transcript|FAM214A_uc010bfg.1_Silent_p.S460S	NM_019600	NP_062546	Q32MH5	K1370_HUMAN	Homo sapiens family with sequence similarity 214, member A (FAM214A), mRNA.	548																	CTCCTAACAAGGAACATTTTG	0.303000														39			4		0.00909568	0.00940365	1	1	0
HLA-DMA	3108	broad.mit.edu	37	6	32917135	32917135	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:32917135G>T	uc003ocm.2	-	3	780	c.694C>A	c.(694-696)Ctg>Atg	p.L232M		NM_006120	NP_006111	Q31604	Q31604_HUMAN	Homo sapiens major histocompatibility complex, class II, DM alpha (HLA-DMA), mRNA.	232						MHC class II protein complex|integral to membrane				kidney(1)|large_intestine(2)|lung(8)	11						ACGCCACACAGCACATTCTCC	0.582000														9			13		4.3838e-07	5.01911e-07	1	1	0
CALD1	800	broad.mit.edu	37	7	134618793	134618793	+	Nonsense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:134618793G>T	uc003vrz.3	+	4	1739	c.1273G>T	c.(1273-1275)Gaa>Taa	p.E425*	CALD1_uc003vry.3_Intron|CALD1_uc003vsb.3_Intron|CALD1_uc011kpt.2_Intron|CALD1_uc010lmm.3_Intron|CALD1_uc003vsc.3_Intron|CALD1_uc003vsd.3_Intron|CALD1_uc011kpu.2_Intron|CALD1_uc011kpv.2_Intron|CALD1_uc003vse.3_Nonsense_Mutation_p.E289*	NM_033138	NP_149129	Q05682	CALD1_HUMAN	Homo sapiens caldesmon 1 (CALD1), transcript variant 1, mRNA.	425					cellular component movement|muscle contraction	cytosol|focal adhesion|myofibril	actin binding|calmodulin binding|myosin binding|tropomyosin binding			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						GAAAGCACAAGAAGATAAACT	0.373000														125			25		1.42536e-11	1.74426e-11	1	1	0
ANKRD5	63926	broad.mit.edu	37	20	10023883	10023883	+	Missense_Mutation	SNP	C	A	A	rs6118865		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:10023883C>A	uc002wno.3	+	3	853	c.460C>A	c.(460-462)Ctt>Att	p.L154I	LOC100131208_uc002wnn.2_Intron|ANKRD5_uc002wnp.3_Missense_Mutation_p.L154I|ANKRD5_uc010gbz.3_5'UTR	NM_022096	NP_942093	Q9NU02	ANKR5_HUMAN	Homo sapiens ankyrin repeat domain 5 (ANKRD5), transcript variant 1, mRNA.	154							calcium ion binding			breast(2)|endometrium(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	37						GCCAATATTCCTTAGAGCTTG	0.418000														94			11		3.86212e-05	4.23294e-05	1	1	0
CDC14A	8556	broad.mit.edu	37	1	100963754	100963754	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:100963754C>T	uc001dtf.2	+	13	1900	c.1412C>T	c.(1411-1413)aCt>aTt	p.T471I	CDC14A_uc009web.2_Non-coding_Transcript|CDC14A_uc010oui.1_Missense_Mutation_p.T413I|CDC14A_uc009wed.1_Missense_Mutation_p.T178I|CDC14A_uc001dtg.4_Missense_Mutation_p.T471I|CDC14A_uc009wee.3_Missense_Mutation_p.T471I	NM_033312	NP_201569	Q9UNH5	CC14A_HUMAN	Homo sapiens CDC14 cell division cycle 14 homolog A (S. cerevisiae) (CDC14A), transcript variant 2, mRNA.	471					cell cycle|cell division|cell proliferation	centrosome|nucleus|spindle	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(5)|kidney(6)|large_intestine(6)|lung(10)|skin(2)|urinary_tract(1)	31		all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001)		Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241)		TCGGGTGCCACTGTAAGAAGG	0.468000														129			57		0	0	1	0	0
EXT2	2132	broad.mit.edu	37	11	44255770	44255770	+	Missense_Mutation	SNP	G	A	A	rs145024832	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:44255770G>A	uc001mya.3	+	11	2067	c.2011G>A	c.(2011-2013)Gtc>Atc	p.V671I	EXT2_uc010rfo.2_Missense_Mutation_p.V666I|EXT2_uc009ykt.3_Missense_Mutation_p.V648I|EXT2_uc001mxz.3_Missense_Mutation_p.V638I	NM_000401	NP_000392	Q93063	EXT2_HUMAN	Homo sapiens exostosin 2 (EXT2), transcript variant 1, mRNA.	638					glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|protein heterodimerization activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						GGTGGCCAACGTCACGGGAAA	0.433000			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Hereditary Multiple Exostoses					12			17		0	0	1	0	0
CD177	57126	broad.mit.edu	37	19	43864431	43864431	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:43864431C>T	uc002owi.3	+	5	676	c.634C>T	c.(634-636)Cat>Tat	p.H212Y	CD177_uc010eis.3_Non-coding_Transcript|CD177_uc002owj.3_Non-coding_Transcript	NM_020406	NP_065139	Q8N6Q3	CD177_HUMAN	Homo sapiens CD177 molecule (CD177), mRNA.	212					blood coagulation|leukocyte migration	anchored to membrane|plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5		Prostate(69;0.00682)				TCTGACCTGTCATCGGGGGAC	0.552000														13			3		0	0	1	0	0
TRIO	7204	broad.mit.edu	37	5	14471491	14471491	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:14471491A>G	uc003jff.3	+	37	5834	c.5828A>G	c.(5827-5829)aAc>aGc	p.N1943S	TRIO_uc003jfg.3_Non-coding_Transcript|TRIO_uc003jfh.1_Missense_Mutation_p.N1592S	NM_007118	NP_009049	O75962	TRIO_HUMAN	Homo sapiens triple functional domain (PTPRF interacting) (TRIO), mRNA.	1943					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|protein serine/threonine kinase activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					CCTTCCTTCAACCCTTCGGAT	0.463000														24			8		0	0	1	0	0
CLEC16A	23274	broad.mit.edu	37	16	11066886	11066886	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:11066886C>T	uc021tcy.1	+	6	926	c.696C>T	c.(694-696)atC>atT	p.I232I	CLEC16A_uc002dan.4_Silent_p.I230I|CLEC16A_uc002dao.3_Silent_p.I230I	NM_015226	NP_056041	Q2KHT3	CL16A_HUMAN	Homo sapiens C-type lectin domain family 16, member A (CLEC16A), transcript variant 1, mRNA.	232										breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						GCCATGTGATCGAACTCGATG	0.483000														8			11		0	0	1	0	0
ABCC9	10060	broad.mit.edu	37	12	21998712	21998712	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:21998712C>A	uc001rfh.3	-	23	2941	c.2921G>T	c.(2920-2922)aGg>aTg	p.R974M	ABCC9_uc001rfi.1_Missense_Mutation_p.R974M	NM_020297	NP_064693	O60706	ABCC9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	974					defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	CATTTTAGTCCTGAGCCTCAT	0.443000														28			15		2.23348e-06	2.52156e-06	1	1	0
GPR101	83550	broad.mit.edu	37	X	136113612	136113612	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:136113612G>A	uc011mwh.2	-	0	222	c.222C>T	c.(220-222)ctC>ctT	p.L74L		NM_054021	NP_473362	Q96P66	GP101_HUMAN	Homo sapiens G protein-coupled receptor 101 (GPR101), mRNA.	74						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.L74H(1)		autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42	Acute lymphoblastic leukemia(192;0.000127)					GGTCGGTGACGAGGAGGTTAA	0.617000														33			11		0	0	1	0	0
PLXND1	23129	broad.mit.edu	37	3	129275975	129275975	+	Missense_Mutation	SNP	G	A	A	rs141415531		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:129275975G>A	uc003emx.2	-	33	5637	c.5537C>T	c.(5536-5538)aCg>aTg	p.T1846M	PLXND1_uc003emw.2_Missense_Mutation_p.T2M|PLXND1_uc011blb.1_Missense_Mutation_p.T515M	NM_015103	NP_055918	Q9Y4D7	PLXD1_HUMAN	Homo sapiens plexin D1 (PLXND1), mRNA.	1846					axon guidance	integral to membrane|intracellular|plasma membrane		p.T1846T(1)	PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						GCTGAGCGGCGTCATGTCCTG	0.617000														33			26		0	0	1	0	0
DNAL1	83544	broad.mit.edu	37	14	74125656	74125656	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:74125656G>A	uc001xoq.4	+	2	314	c.149G>A	c.(148-150)tGc>tAc	p.C50Y	DNAL1_uc010aru.3_Missense_Mutation_p.C11Y|DNAL1_uc010arv.3_Intron	NM_031427	NP_001188295	Q4LDG9	DNAL1_HUMAN	Homo sapiens dynein, axonemal, light chain 1 (DNAL1), transcript variant 1, mRNA.	50										kidney(1)|lung(2)	3				BRCA - Breast invasive adenocarcinoma(234;0.00384)|KIRC - Kidney renal clear cell carcinoma(182;0.095)		CTTGCTAATTGCGAGTAAGTT	0.398000														183			92		0	0	1	0	0
ARSH	347527	broad.mit.edu	37	X	2924665	2924665	+	Silent	SNP	C	T	T	rs138378007	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:2924665C>T	uc011mhj.2	+	0	12	c.12C>T	c.(10-12)aaC>aaT	p.N4N		NM_001011719	NP_001011719	Q5FYA8	ARSH_HUMAN	Homo sapiens arylsulfatase family, member H (ARSH), mRNA.	4						integral to membrane	arylsulfatase activity|metal ion binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1)	34		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				TGACAAGAAACGCCAGACCCA	0.468000														54			28		0	0	1	0	0
CRISP1	167	broad.mit.edu	37	6	49819840	49819840	+	Missense_Mutation	SNP	C	A	A	rs138699394	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:49819840C>A	uc003ozw.2	-	2	148	c.69G>T	c.(67-69)aaG>aaT	p.K23N	CRISP1_uc003ozx.2_Missense_Mutation_p.K23N|CRISP1_uc021zaj.1_Missense_Mutation_p.K23N	NM_001131	NP_001192149	P54107	CRIS1_HUMAN	Homo sapiens cysteine-rich secretory protein 1 (CRISP1), transcript variant 1, mRNA.	23					fusion of sperm to egg plasma membrane	extracellular space				endometrium(1)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0358)					TAGCTGATTTCTTCTGTTACC	0.333000														52			25		2.79863e-10	3.37315e-10	1	1	0
STK32B	55351	broad.mit.edu	37	4	5469740	5469740	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:5469740A>G	uc003gih.1	+	10	1113	c.1049A>G	c.(1048-1050)cAc>cGc	p.H350R	STK32B_uc010ida.1_Missense_Mutation_p.H303R	NM_018401	NP_060871	Q9NY57	ST32B_HUMAN	Homo sapiens serine/threonine kinase 32B (STK32B), mRNA.	350							ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	39						CAGAATGGACACCTGCAGCAC	0.517000														98			5		0	0	1	0	0
PLCL1	5334	broad.mit.edu	37	2	198949212	198949212	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:198949212C>A	uc010fsp.3	+	1	1369	c.971C>A	c.(970-972)tCt>tAt	p.S324Y	PLCL1_uc002uuv.4_Missense_Mutation_p.S245Y	NM_006226	NP_006217	Q15111	PLCL1_HUMAN	Homo sapiens phospholipase C-like 1 (PLCL1), mRNA.	324					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	p.Q323K(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	GTACAGATATCTAAAAACAAA	0.393000														97			14		4.3838e-07	5.01911e-07	1	1	0
ACER1	125981	broad.mit.edu	37	19	6312496	6312496	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:6312496G>T	uc002mel.2	-	1	186	c.108C>A	c.(106-108)ccC>ccA	p.P36P		NM_133492	NP_597999	Q8TDN7	ACER1_HUMAN	Homo sapiens alkaline ceramidase 1 (ACER1), mRNA.	36						endoplasmic reticulum membrane|integral to membrane	ceramidase activity			NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)	15						AGATGAAGAAGGGGATATTGG	0.557000														55			7		0.00307968	0.00322291	1	1	0
ADAP2	55803	broad.mit.edu	37	17	29283406	29283406	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:29283406C>A	uc010csk.3	+	9	1327	c.1048C>A	c.(1048-1050)Ccc>Acc	p.P350T	ADAP2_uc002hfy.3_Missense_Mutation_p.P343T|ADAP2_uc010csl.3_Non-coding_Transcript|ADAP2_uc002hfx.3_Missense_Mutation_p.P344T	NM_018404	NP_060874	Q9NPF8	ADAP2_HUMAN	Homo sapiens ArfGAP with dual PH domains 2 (ADAP2), mRNA.	344	PH 2.				heart development|regulation of ARF GTPase activity	mitochondrial envelope|plasma membrane	ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding, bridging|zinc ion binding	p.?(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						CCTCACTTGCCCCAGTGAGAA	0.562000														33			10		3.86212e-05	4.23294e-05	1	1	0
TXK	7294	broad.mit.edu	37	4	48088512	48088512	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:48088512C>A	uc003gxx.4	-	9	1013	c.927G>T	c.(925-927)gaG>gaT	p.E309D		NM_003328	NP_003319	P42681	TXK_HUMAN	Homo sapiens TXK tyrosine kinase (TXK), mRNA.	309	Protein kinase.					cytoplasm	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2)	25						CAATGAAATCCTCTTCAGACA	0.443000														136			10		2.27111e-07	2.61452e-07	1	1	0
DPYSL4	10570	broad.mit.edu	37	10	134015567	134015567	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:134015567G>A	uc009ybb.3	+	10	1382	c.1228G>A	c.(1228-1230)Gtc>Atc	p.V410I		NM_006426	NP_006417	O14531	DPYL4_HUMAN	Homo sapiens dihydropyrimidinase-like 4 (DPYSL4), mRNA.	410					axon guidance|pyrimidine base catabolic process	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	p.L409M(1)		NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)		CGCTGACCTGGTCATATGGAA	0.547000														51			18		0	0	1	0	0
ZHX2	22882	broad.mit.edu	37	8	123964116	123964116	+	Silent	SNP	C	T	T	rs139940405	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:123964116C>T	uc022bag.1	+	0	366	c.366C>T	c.(364-366)taC>taT	p.Y122Y	ZHX2_uc003ypk.1_Silent_p.Y122Y	NM_014943	NP_055758	Q9Y6X8	ZHX2_HUMAN	Homo sapiens zinc fingers and homeoboxes 2 (ZHX2), mRNA.	122						cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			CCAAAAAGTACGACTCCCTAT	0.478000														39			15		0	0	1	0	0
SND1	27044	broad.mit.edu	37	7	127326801	127326801	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:127326801G>T	uc003vmi.3	+	1	439	c.213G>T	c.(211-213)aaG>aaT	p.K71N		NM_014390	NP_055205	Q7KZF4	SND1_HUMAN	Homo sapiens staphylococcal nuclease and tudor domain containing 1 (SND1), mRNA.	71	TNase-like 1.				gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	RNA-induced silencing complex|melanosome|nucleus	nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity			central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						CTGATGCAAAGGATACCCCTG	0.557000														69			17		7.21436e-19	9.26922e-19	1	1	0
TANC1	85461	broad.mit.edu	37	2	160035532	160035532	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:160035532G>T	uc002uag.3	+	13	2642	c.2368G>T	c.(2368-2370)Gac>Tac	p.D790Y	TANC1_uc010fol.1_Missense_Mutation_p.D684Y|TANC1_uc010zcm.2_Missense_Mutation_p.D782Y|TANC1_uc010fom.1_Missense_Mutation_p.D596Y	NM_033394	NP_203752	Q9C0D5	TANC1_HUMAN	Homo sapiens tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1 (TANC1), transcript variant 1, mRNA.	790						cell junction|postsynaptic density|postsynaptic membrane	binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						GGGATGGGAAGACTTTCAGCA	0.562000														147			9		2.17888e-05	2.40634e-05	1	1	0
GON4L	54856	broad.mit.edu	37	1	155774865	155774865	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155774865C>T	uc001flz.2	-	10	1617	c.1520G>A	c.(1519-1521)gGc>gAc	p.G507D	GON4L_uc001fly.1_Missense_Mutation_p.G507D|GON4L_uc009wrh.1_Missense_Mutation_p.G507D|GON4L_uc001fma.1_Missense_Mutation_p.G507D|GON4L_uc001fmc.3_Missense_Mutation_p.G507D|GON4L_uc001fmd.4_Missense_Mutation_p.G507D|GON4L_uc009wri.3_Missense_Mutation_p.G93D|GON4L_uc009wrj.2_Missense_Mutation_p.G22D|GON4L_uc001fme.3_Missense_Mutation_p.G335D|GON4L_uc001fmf.3_Missense_Mutation_p.G201D	NM_001037533	NP_001032622	Q3T8J9	GON4L_HUMAN	Homo sapiens gon-4-like (C. elegans) (GON4L), transcript variant 1, mRNA.	507					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					CTCTAATTGGCCCAGGGGAAC	0.502000														89			29		0	0	1	0	0
ANKS6	203286	broad.mit.edu	37	9	101518861	101518861	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:101518861G>A	uc004ayu.3	-	11	2188	c.2167C>T	c.(2167-2169)Cca>Tca	p.P723S	ANKS6_uc004ayv.2_Missense_Mutation_p.P186S|ANKS6_uc004ayx.2_Non-coding_Transcript|ANKS6_uc004ayy.2_Non-coding_Transcript|ANKS6_uc004ayt.3_Missense_Mutation_p.P422S	NM_173551	NP_775822	Q68DC2	ANKS6_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 6 (ANKS6), mRNA.	723	Ser-rich.									endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21		Acute lymphoblastic leukemia(62;0.0527)				GTTCCAGATGGAGGCCTTTTG	0.512000														29			23		0	0	1	0	0
GPR111	222611	broad.mit.edu	37	6	47646785	47646785	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:47646785G>A	uc010jzj.1	+	3	387	c.386G>A	c.(385-387)gGa>gAa	p.G129E	GPR111_uc003oyy.3_Missense_Mutation_p.G61E	NM_153839	NP_722581	Q8IZF7	GP111_HUMAN	Homo sapiens G protein-coupled receptor 111 (GPR111), mRNA.	129					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						GACACTCAGGGAAATATGGGG	0.458000														41			4		0	0	1	0	0
ANKRD12	23253	broad.mit.edu	37	18	9255390	9255390	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:9255390C>T	uc002knv.3	+	8	2389	c.2125C>T	c.(2125-2127)Ctc>Ttc	p.L709F	ANKRD12_uc002knw.3_Missense_Mutation_p.L686F|ANKRD12_uc002knx.3_Missense_Mutation_p.L686F|ANKRD12_uc010dkx.1_Missense_Mutation_p.L416F	NM_015208	NP_056023	Q6UB98	ANR12_HUMAN	Homo sapiens ankyrin repeat domain 12 (ANKRD12), transcript variant 1, mRNA.	709						nucleus				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						aaCTGAAGATCTCTTTTTAAA	0.294000														9			11		0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100693793	100693793	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100693793G>A	uc003uxp.1	+	6	12804	c.12751G>A	c.(12751-12753)Gtc>Atc	p.V4251I	MUC17_uc010lho.1_Intron	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	4251	SEA.					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)					GGAGCATGACGTCCTCCTAAG	0.478000														37			42		0	0	1	0	0
SALL2	6297	broad.mit.edu	37	14	21991466	21991466	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:21991466C>T	uc001wbe.3	-	1	2678	c.2396G>A	c.(2395-2397)aGa>aAa	p.R799K	SALL2_uc010tly.2_Missense_Mutation_p.R797K|SALL2_uc010tlz.1_Missense_Mutation_p.R662K|SALL2_uc001wbf.3_Intron|SALL2_uc010tma.1_Missense_Mutation_p.R664K|SALL2_uc001wbg.1_Intron	NM_005407	NP_005398	Q9Y467	SALL2_HUMAN	Homo sapiens sal-like 2 (Drosophila) (SALL2), mRNA.	799							DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		TGAATCACCTCTCACTGATAT	0.537000														24			11		0	0	1	0	0
TSNAX	7257	broad.mit.edu	37	1	231665031	231665031	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:231665031A>G	uc001huw.3	+	1	205	c.47A>G	c.(46-48)gAc>gGc	p.D16G	DISC1_uc010pwe.2_5'UTR|DISC1_uc010pwf.2_5'UTR|DISC1_uc010pwj.1_5'UTR|DISC1_uc010pwk.1_5'UTR|DISC1_uc010pwg.1_5'UTR|DISC1_uc010pwh.1_5'UTR|DISC1_uc010pwi.1_5'UTR|DISC1_uc010pwl.2_Non-coding_Transcript	NM_005999	NP_005990	Q99598	TSNAX_HUMAN	Homo sapiens translin-associated factor X (TSNAX), mRNA.	16					cell differentiation|multicellular organismal development|spermatogenesis	nucleus|perinuclear region of cytoplasm	protein transporter activity|sequence-specific DNA binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	9		all_cancers(173;0.0395)|Acute lymphoblastic leukemia(190;3.76e-06)|Prostate(94;0.116)				AGGAAGCATGACAATTTCCCA	0.383000														102			22		0	0	1	0	0
LAMP5	24141	broad.mit.edu	37	20	9496681	9496681	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:9496681G>A	uc002wni.2	+	2	767	c.272G>A	c.(271-273)cGg>cAg	p.R91Q	LAMP5_uc010zrc.2_Intron	NM_012261	NP_036393	Q9UJQ1	CT103_HUMAN	Homo sapiens lysosomal-associated membrane protein family, member 5 (LAMP5), transcript variant 1, mRNA.	91						integral to membrane											GCATTGACCCGGGGAGCTGAG	0.632000														9			7		0	0	1	0	0
PLK2	10769	broad.mit.edu	37	5	57751143	57751143	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:57751143A>C	uc003jrn.3	-	11	1904	c.1724T>G	c.(1723-1725)tTt>tGt	p.F575C	PLK2_uc021xyx.1_Missense_Mutation_p.F561C	NM_006622	NP_006613	Q9NYY3	PLK2_HUMAN	Homo sapiens polo-like kinase 2 (PLK2), transcript variant 1, mRNA.	575					positive regulation of I-kappaB kinase/NF-kappaB cascade		ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity			endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2)	26		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)		GTAATGAGAAAAGTATTTCAG	0.438000														136			9		0	0	1	0	0
PPARA	5465	broad.mit.edu	37	22	46594465	46594465	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:46594465G>A	uc003bhb.1	+	1	308	c.185G>A	c.(184-186)gGc>gAc	p.G62D	PPARA_uc003bgw.1_Missense_Mutation_p.G62D|PPARA_uc003bgx.1_Missense_Mutation_p.G62D|PPARA_uc010hab.1_Missense_Mutation_p.G62D|PPARA_uc003bgy.1_Non-coding_Transcript|PPARA_uc003bgz.1_Non-coding_Transcript|PPARA_uc003bha.3_Missense_Mutation_p.G62D|PPARA_uc010hac.1_5'UTR	NM_005036	NP_005027	Q07869	PPARA_HUMAN	Homo sapiens peroxisome proliferator-activated receptor alpha (PPARA), transcript variant 5, mRNA.	62					fatty acid metabolic process|fatty acid transport|negative regulation of appetite|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fatty acid beta-oxidation|regulation of cellular ketone metabolic process by positive regulation of transcription from an RNA polymerase II promoter|regulation of glycolysis by positive regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|ligand-regulated transcription factor activity|lipid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|ubiquitin conjugating enzyme binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	15		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00522)	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Simvastatin(DB00641)	AGCTGTCCTGGCTCAGATGGC	0.418000														55			5		0	0	1	0	0
SYNJ2	8871	broad.mit.edu	37	6	158449920	158449920	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:158449920G>A	uc003qqx.2	+	2	453	c.347G>A	c.(346-348)cGc>cAc	p.R116H	SYNJ2_uc011efm.2_Non-coding_Transcript|SYNJ2_uc003qqw.2_Missense_Mutation_p.R116H|SYNJ2_uc003qqy.2_5'UTR|SYNJ2_uc011efn.1_Missense_Mutation_p.R65H|SYNJ2_uc010kjo.1_Missense_Mutation_p.R65H|SYNJ2_uc021zhl.1_Non-coding_Transcript	NM_003898	NP_001171559	O15056	SYNJ2_HUMAN	Homo sapiens synaptojanin 2 (SYNJ2), transcript variant 1, mRNA.	116							RNA binding|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		GAGGAGGAACGCCTCATAGCT	0.507000														26			23		0	0	1	0	0
DISC1	27185	broad.mit.edu	37	1	231829962	231829962	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:231829962C>A	uc010pxh.2	+	1	511	c.458C>A	c.(457-459)tCt>tAt	p.S153Y	DISC1_uc010pwe.2_Missense_Mutation_p.S108Y|DISC1_uc010pwf.2_Missense_Mutation_p.S108Y|DISC1_uc010pwj.1_Missense_Mutation_p.S142Y|DISC1_uc010pwk.1_Missense_Mutation_p.S142Y|DISC1_uc010pwg.1_Missense_Mutation_p.S142Y|DISC1_uc010pwh.1_Missense_Mutation_p.S108Y|DISC1_uc010pwi.1_Missense_Mutation_p.S108Y|DISC1_uc010pwl.2_Non-coding_Transcript|DISC1_uc010pwp.2_Missense_Mutation_p.S153Y|DISC1_uc010pwo.2_Missense_Mutation_p.S153Y|DISC1_uc010pwq.2_Missense_Mutation_p.S153Y|DISC1_uc010pwr.1_Missense_Mutation_p.S153Y|DISC1_uc010pws.1_Missense_Mutation_p.S153Y|DISC1_uc010pwt.1_Missense_Mutation_p.S153Y|DISC1_uc010pwu.1_Intron|DISC1_uc010pwv.2_Non-coding_Transcript|DISC1_uc010pwx.2_Non-coding_Transcript|DISC1_uc010pww.2_Missense_Mutation_p.S153Y|DISC1_uc001huy.3_Missense_Mutation_p.S153Y|DISC1_uc010pwy.2_Non-coding_Transcript|DISC1_uc010pwz.2_Non-coding_Transcript|DISC1_uc010pxa.2_Non-coding_Transcript|DISC1_uc010pxb.1_Missense_Mutation_p.S153Y|DISC1_uc010pxc.1_Missense_Mutation_p.S153Y|DISC1_uc010pxe.2_Missense_Mutation_p.S153Y|DISC1_uc010pxf.2_Missense_Mutation_p.S153Y|DISC1_uc010pxg.2_Missense_Mutation_p.S153Y|DISC1_uc010pxd.2_5'UTR|DISC1_uc009xfr.3_Missense_Mutation_p.S108Y|DISC1_uc010pxn.1_5'UTR|DISC1_uc010pxk.1_Non-coding_Transcript|DISC1_uc010pxi.1_Non-coding_Transcript|DISC1_uc010pxj.1_5'UTR|DISC1_uc010pxl.1_Non-coding_Transcript|DISC1_uc010pxm.2_Missense_Mutation_p.S153Y|DISC1_uc001huz.3_Missense_Mutation_p.S153Y|DISC1_uc001hva.3_Missense_Mutation_p.S153Y|DISC1_uc010pwm.2_Missense_Mutation_p.S153Y|DISC1_uc001hvc.3_Missense_Mutation_p.S153Y|DISC1_uc010pwn.1_Missense_Mutation_p.S153Y|DISC1_uc021pkn.1_Missense_Mutation_p.S153Y|DISC1_uc001hux.1_Missense_Mutation_p.S153Y	NM_001164537	NP_001158009	Q9NRI5	DISC1_HUMAN	Homo sapiens disrupted in schizophrenia 1 (DISC1), transcript variant a, mRNA.	153	Interaction with MAP1A.				Wnt receptor signaling pathway|microtubule cytoskeleton organization|neuron migration|positive regulation of Wnt receptor signaling pathway|positive regulation of neuroblast proliferation	centrosome|microtubule	protein binding			breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(173;0.0208)|Prostate(94;0.0975)				ATGGATAGTTCTGAGACCCTG	0.612000														26			10		7.03913e-09	8.30711e-09	1	1	0
FAM71D	161142	broad.mit.edu	37	14	67671481	67671481	+	Missense_Mutation	SNP	G	C	C	rs151256654		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:67671481G>C	uc001xja.2	+	4	877	c.587G>C	c.(586-588)aGc>aCc	p.S196T	FAM71D_uc010aqn.2_Non-coding_Transcript	NM_173526	NP_775797	Q8N9W8	FA71D_HUMAN	Homo sapiens family with sequence similarity 71, member D (FAM71D), mRNA.	196										breast(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(1)	13		all_hematologic(31;0.0116)		all cancers(60;0.00107)|BRCA - Breast invasive adenocarcinoma(234;0.00993)|OV - Ovarian serous cystadenocarcinoma(108;0.012)		ATTACGAATAGCACAGACATC	0.498000														42			32		0	0	1	0	0
STAB1	23166	broad.mit.edu	37	3	52556111	52556111	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52556111G>A	uc003dej.3	+	58	6404	c.6330G>A	c.(6328-6330)caG>caA	p.Q2110Q	STAB1_uc003dek.1_Silent_p.Q125Q|STAB1_uc003del.3_5'UTR	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	Homo sapiens stabilin 1 (STAB1), mRNA.	2110	EGF-like 15.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		ACTGTAGCCAGGTAGGAACAA	0.652000														17			15		0	0	1	0	0
ZIC5	85416	broad.mit.edu	37	13	100617767	100617767	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:100617767T>C	uc001vom.1	-	1	2105	c.1856A>G	c.(1855-1857)aAc>aGc	p.N619S		NM_033132	NP_149123	Q96T25	ZIC5_HUMAN	Homo sapiens Zic family member 5 (ZIC5), mRNA.	619					cell differentiation	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(1)|lung(2)|prostate(1)|skin(2)	9	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CTCATTGAGGTTGGTCACCTG	0.602000														65			7		0	0	1	0	0
F8	2157	broad.mit.edu	37	X	154133205	154133205	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:154133205T>G	uc004fmt.3	-	15	5638	c.5467A>C	c.(5467-5469)Aaa>Caa	p.K1823Q	F8_uc010nvi.1_5'UTR	NM_000132	NP_000123	P00451	FA8_HUMAN	Homo sapiens coagulation factor VIII, procoagulant component (F8), transcript variant 1, mRNA.	1823	F5/8 type A 3.|Plastocyanin-like 5.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	ACAAAGTTTTTTCTAGGTTCT	0.408000														108			10		0	0	1	0	0
C1QTNF5	114902	broad.mit.edu	37	11	119212379	119212379	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:119212379G>T	uc010rzg.1	-	9	1425	c.1265C>A	c.(1264-1266)tCt>tAt	p.S422Y	C1QTNF5_uc001pwj.2_5'UTR			Q9BY79	MFRP_HUMAN	Homo sapiens C1q and tumor necrosis factor related protein 5 (C1QTNF5), mRNA.	540	LDL-receptor class A 2.				embryo development	integral to membrane		p.S540C(1)		endometrium(1)|lung(2)	3		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		CTGGCAGACAGAGCGGCAAGG	0.647000														46			6		3.59834e-05	3.95114e-05	1	1	0
MST1R	4486	broad.mit.edu	37	3	49935547	49935547	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49935547G>A	uc003cxy.4	-	4	2081	c.1817C>T	c.(1816-1818)aCc>aTc	p.T606I	MST1R_uc011bdc.2_Missense_Mutation_p.T606I|MST1R_uc011bdd.2_Missense_Mutation_p.T606I|MST1R_uc011bde.1_Missense_Mutation_p.T606I|MST1R_uc011bdf.1_Missense_Mutation_p.T500I	NM_002447	NP_002438	Q04912	RON_HUMAN	Homo sapiens macrophage stimulating 1 receptor (c-met-related tyrosine kinase) (MST1R), transcript variant 1, mRNA.	606	IPT/TIG 1.				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		GACCTGATGGGTTCCCTCAGG	0.592000														44			26		0	0	1	0	0
CBWD1	55871	broad.mit.edu	37	9	146117	146117	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:146117C>A	uc003zga.4	-	9	855	c.749G>T	c.(748-750)aGt>aTt	p.S250I	CBWD1_uc010mgs.3_Non-coding_Transcript|CBWD1_uc003zgb.4_Missense_Mutation_p.S214I|CBWD1_uc003zgc.4_Intron|CBWD1_uc011llr.1_Intron	NM_018491	NP_060961	Q9BRT8	CBWD1_HUMAN	Homo sapiens COBW domain containing 1 (CBWD1), transcript variant 1, mRNA.	250							ATP binding|protein binding			kidney(1)|lung(2)|ovary(1)|skin(1)	5	all_lung(41;0.218)	all_cancers(5;3.04e-16)|all_epithelial(5;4.68e-12)|all_lung(10;1.94e-10)|Lung NSC(10;3.61e-10)|Acute lymphoblastic leukemia(5;0.00439)|Breast(48;0.0148)|all_hematologic(5;0.024)|Prostate(43;0.122)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		TCCAGAGAGACTATCAAAGGC	0.333000														98			7		0.00307968	0.00322291	1	1	0
SIGLEC12	89858	broad.mit.edu	37	19	52004674	52004674	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:52004674G>A	uc002pwx.1	-	0	370	c.314C>T	c.(313-315)aCc>aTc	p.T105I	SIGLEC12_uc002pww.1_5'Flank|SIGLEC12_uc010eoy.1_5'UTR	NM_053003	NP_443729	Q96PQ1	SIG12_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 12 (gene/pseudogene) (SIGLEC12), transcript variant 1, mRNA.	105	Ig-like V-type 1.				cell adhesion	integral to membrane	sugar binding	p.T105T(1)		NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		GATGCTCAGGGTACAATCCTT	0.498000														89			58		0	0	1	0	0
SLC6A7	6534	broad.mit.edu	37	5	149578855	149578855	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:149578855C>T	uc003lrr.3	+	4	1020	c.649C>T	c.(649-651)Ctc>Ttc	p.L217F		NM_014228	NP_055043	Q99884	SC6A7_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, L-proline), member 7 (SLC6A7), mRNA.	217						integral to plasma membrane|membrane fraction	neurotransmitter:sodium symporter activity|proline:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1)	16		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Proline(DB00172)	CCGCTGGAACCTCTGCCTCTG	0.637000														29			29		0	0	1	0	0
MCM10	55388	broad.mit.edu	37	10	13246221	13246221	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:13246221C>T	uc001ima.3	+	17	2486	c.2358C>T	c.(2356-2358)tgC>tgT	p.C786C	MCM10_uc001imb.3_Silent_p.C785C|MCM10_uc001imc.3_Silent_p.C785C	NM_182751	NP_877428	Q7L590	MCM10_HUMAN	Homo sapiens minichromosome maintenance complex component 10 (MCM10), transcript variant 1, mRNA.	786					DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|cell cycle checkpoint	nucleoplasm	metal ion binding|protein binding			central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						CTGTGCAGTGCGCCTATACCC	0.522000														22			9		0	0	1	0	0
MRPS7	51081	broad.mit.edu	37	17	73261787	73261787	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:73261787C>A	uc002jnm.4	+	4	745	c.512C>A	c.(511-513)cCt>cAt	p.P171H		NM_015971	NP_057055	Q9Y2R9	RT07_HUMAN	Homo sapiens mitochondrial ribosomal protein S7 (MRPS7), nuclear gene encoding mitochondrial protein, mRNA.	171					translation	cytosolic small ribosomal subunit|mitochondrion	RNA binding|protein binding|structural constituent of ribosome			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)	6	all_cancers(13;1.25e-07)|all_epithelial(9;2.63e-08)|Breast(9;1.06e-07)		all cancers(21;3.02e-07)|Epithelial(20;2.92e-06)			ACCCAGGTCCCTGTACCCCTA	0.582000														33			12		0.000219431	0.000236831	1	1	0
KLHL10	317719	broad.mit.edu	37	17	40001975	40001975	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:40001975G>A	uc010cxr.3	+	2	1424	c.1282G>A	c.(1282-1284)Gcc>Acc	p.A428T	KLHL10_uc010wfv.1_Missense_Mutation_p.A422T|KLHL10_uc010wfw.2_Missense_Mutation_p.A340T	NM_152467	NP_689680	Q6JEL2	KLH10_HUMAN	Homo sapiens kelch-like 10 (Drosophila) (KLHL10), mRNA.	428						cytoplasm				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26		Breast(137;0.000162)				TGATGCAAGCGCCACAACACT	0.498000														28			17		0	0	1	0	0
FBN3	84467	broad.mit.edu	37	19	8159439	8159439	+	Silent	SNP	C	T	T	rs147423270	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:8159439C>T	uc002mjf.3	-	45	5813	c.5796G>A	c.(5794-5796)gaG>gaA	p.E1932E		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	1932	EGF-like 31; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GGCTGAGGCACTCATTGGTGT	0.592000														23			6		0	0	1	0	0
MICAL1	64780	broad.mit.edu	37	6	109769590	109769590	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:109769590G>T	uc011eaq.2	-	12	2019	c.1728C>A	c.(1726-1728)ccC>ccA	p.P576P	MICAL1_uc003ptj.3_Silent_p.P557P|MICAL1_uc003ptk.3_Silent_p.P557P|MICAL1_uc010kdr.3_Silent_p.P471P	NM_022765	NP_073602	Q8TDZ2	MICA1_HUMAN	Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 1 (MICAL1), transcript variant 1, mRNA.	557	CH.				cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		GCAGCTCTGAGGGTTCCCTGT	0.607000														104			11		9.70103e-10	1.16071e-09	1	1	0
HIVEP2	3097	broad.mit.edu	37	6	143081223	143081223	+	Nonsense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:143081223C>A	uc003qjd.3	-	8	6945	c.6202G>T	c.(6202-6204)Gga>Tga	p.G2068*		NM_006734	NP_006725	P31629	ZEP2_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 2 (HIVEP2), mRNA.	2068	10 X 4 AA tandem repeats of S-P-[RGMKC]- [RK].				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		GATAAATCTCCTTTGGGTATC	0.463000														57			5		0.00116845	0.00123466	1	1	0
SCAP	22937	broad.mit.edu	37	3	47459213	47459213	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:47459213T>C	uc003crh.1	-	16	2806	c.2551A>G	c.(2551-2553)Agc>Ggc	p.S851G	SCAP_uc011baz.1_Missense_Mutation_p.S595G|SCAP_uc003crg.2_Missense_Mutation_p.S458G	NM_012235	NP_036367	Q12770	SCAP_HUMAN	Homo sapiens SREBF chaperone (SCAP), mRNA.	851	Interaction with SREBF2 (By similarity).				cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	ER to Golgi transport vesicle membrane|Golgi membrane|endoplasmic reticulum membrane|integral to membrane	unfolded protein binding			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		AGGGGAGGGCTGTCCCCAGGC	0.662000														9			9		0	0	1	0	0
OTUD6B	51633	broad.mit.edu	37	8	92090721	92090721	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:92090721G>A	uc003yeu.4	+	3	642	c.543G>A	c.(541-543)caG>caA	p.Q181Q	OTUD6B_uc011lgh.2_Silent_p.Q50Q	NM_016023	NP_057107	Q8N6M0	OTU6B_HUMAN	Homo sapiens OTU domain containing 6B (OTUD6B), mRNA.	151	OTU.									endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11			BRCA - Breast invasive adenocarcinoma(11;0.0187)			AAATTAAACAGATTCCATCTG	0.408000														4			3		0	0	1	0	0
ZNF14	7561	broad.mit.edu	37	19	19822999	19822999	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:19822999T>C	uc002nnk.1	-	3	1245	c.1091A>G	c.(1090-1092)gAa>gGa	p.E364G		NM_021030	NP_066358	P17017	ZNF14_HUMAN	Homo sapiens zinc finger protein 14 (ZNF14), mRNA.	364					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(2)|endometrium(1)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32		Renal(1328;0.0474)				TCGTTTACATTCATATGGTTT	0.388000														47			27		0	0	1	0	0
FAM108B1	51104	broad.mit.edu	37	9	74489728	74489728	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:74489728G>A	uc004ail.3	-	1	871	c.269C>T	c.(268-270)gCg>gTg	p.A90V	FAM108B1_uc004aim.1_Missense_Mutation_p.A90V	NM_016014	NP_057098	Q5VST6	F108B_HUMAN	Homo sapiens family with sequence similarity 108, member B1 (FAM108B1), transcript variant 1, mRNA.	90						extracellular region	hydrolase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(1)	11						AGTGTATTTCGCATTGGGTGA	0.363000														115			13		0	0	1	0	0
ZNF606	80095	broad.mit.edu	37	19	58490723	58490723	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58490723G>T	uc002qqw.3	-	6	1943	c.1325C>A	c.(1324-1326)gCc>gAc	p.A442D	ZNF606_uc010yhp.2_Missense_Mutation_p.A352D	NM_025027	NP_079303	Q8WXB4	ZN606_HUMAN	Homo sapiens zinc finger protein 606 (ZNF606), mRNA.	442					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		TTTCGTAAGGGCTGAGCGATT	0.363000														27			11		3.07112e-06	3.45634e-06	1	1	0
TOX	9760	broad.mit.edu	37	8	59851961	59851961	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:59851961C>T	uc003xtw.1	-	2	532	c.311G>A	c.(310-312)gGc>gAc	p.G104D		NM_014729	NP_055544	O94900	TOX_HUMAN	Homo sapiens thymocyte selection-associated high mobility group box (TOX), mRNA.	104						nucleus	DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)				TGGTAGCAGGCCATTATGGTT	0.488000														40			15		0	0	1	0	0
ZNF324	25799	broad.mit.edu	37	19	58983150	58983150	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58983150G>A	uc002qsw.2	+	3	1436	c.1291G>A	c.(1291-1293)Ggc>Agc	p.G431S		NM_014347	NP_055162	O75467	Z324A_HUMAN	Homo sapiens zinc finger protein 324 (ZNF324), mRNA.	431					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.C430C(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(2)|prostate(2)|urinary_tract(2)	16		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		CCCACAGTGCGGCCGCGCCTT	0.677000														33			11		0	0	1	0	0
PPHLN1	51535	broad.mit.edu	37	12	42840048	42840048	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:42840048T>C	uc001rng.1	+	11	1411	c.1306T>C	c.(1306-1308)Ttg>Ctg	p.L436L	PPHLN1_uc010skr.1_3'UTR|PPHLN1_uc010sks.1_Silent_p.L387L|PPHLN1_uc010skt.1_Silent_p.L341L|PPHLN1_uc001rni.1_Silent_p.L412L|PPHLN1_uc001rnh.1_Non-coding_Transcript|PPHLN1_uc010sku.1_Intron	NM_016488	NP_057572	Q8NEY8	PPHLN_HUMAN	Homo sapiens periphilin 1 (PPHLN1), transcript variant 1, mRNA.	436					keratinization	cytoplasm|nucleus				breast(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	16	all_cancers(12;0.00049)|Breast(8;0.165)	Lung NSC(34;0.123)		GBM - Glioblastoma multiforme(48;0.0875)		tccagaaaatttgttccttgc	0.478000														24			11		0	0	1	0	0
RPRD2	23248	broad.mit.edu	37	1	150443996	150443996	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:150443996C>A	uc009wlr.3	+	10	2773	c.2572C>A	c.(2572-2574)Ctg>Atg	p.L858M	RPRD2_uc010pcc.1_Missense_Mutation_p.L832M|RPRD2_uc001eup.4_Missense_Mutation_p.L832M	NM_015203	NP_056018	Q5VT52	RPRD2_HUMAN	Homo sapiens regulation of nuclear pre-mRNA domain containing 2 (RPRD2), mRNA.	858	Ser-rich.						protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						CAAATCTATCCTGAAATCAAG	0.468000														32			25		2.48779e-11	3.03834e-11	1	1	0
ANKRD7	56311	broad.mit.edu	37	7	117874815	117874815	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:117874815G>T	uc003vji.3	+	2	528	c.355G>T	c.(355-357)Gat>Tat	p.D119Y		NM_019644	NP_062618	Q92527	ANKR7_HUMAN	Homo sapiens ankyrin repeat domain 7 (ANKRD7), mRNA.	119					male gonad development					breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)	29						TGCAGACCCAGATCTGAGGGA	0.368000														147			38		1.30998e-17	1.67124e-17	1	1	0
MYOM2	9172	broad.mit.edu	37	8	2046693	2046693	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:2046693G>A	uc003wpx.4	+	18	2458	c.2320G>A	c.(2320-2322)Ggc>Agc	p.G774S	MYOM2_uc011kwi.2_Missense_Mutation_p.G199S	NM_003970	NP_003961	P54296	MYOM2_HUMAN	Homo sapiens myomesin (M-protein) 2, 165kDa (MYOM2), mRNA.	774	Fibronectin type-III 4.				muscle contraction	myosin filament	structural constituent of muscle	p.D773D(1)		autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		ATAGGTGGACGGCTTGACGGA	0.493000														9			6		0	0	1	0	0
INTU	27152	broad.mit.edu	37	4	128626764	128626764	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:128626764C>T	uc003ifk.2	+	10	1688	c.1585C>T	c.(1585-1587)Cat>Tat	p.H529Y	INTU_uc011cgq.2_Non-coding_Transcript	NM_015693	NP_056508	Q9ULD6	PDZD6_HUMAN	Homo sapiens inturned planar cell polarity effector homolog (Drosophila) (INTU), mRNA.	529										breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						GATATGCAGTCATTTGCCCAA	0.368000														100			47		0	0	1	0	0
GP9	2815	broad.mit.edu	37	3	128780695	128780695	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:128780695G>A	uc003elm.2	+	2	300	c.113G>A	c.(112-114)tGc>tAc	p.C38Y	GP9_uc021xdn.1_Missense_Mutation_p.C38Y	NM_000174	NP_000165	P14770	GPIX_HUMAN	Homo sapiens glycoprotein IX (platelet) (GP9), mRNA.	38	LRRNT.				blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane	protein binding			NS(1)|central_nervous_system(1)|lung(4)	6					Quinine(DB00468)	TGGGTGGACTGCAGGGGCCAC	0.697000														6			6		0	0	1	0	0
WWP1	11059	broad.mit.edu	37	8	87474066	87474066	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:87474066G>A	uc003ydt.3	+	23	2940	c.2660G>A	c.(2659-2661)aGc>aAc	p.S887N		NM_007013	NP_008944	Q9H0M0	WWP1_HUMAN	Homo sapiens WW domain containing E3 ubiquitin protein ligase 1 (WWP1), mRNA.	887	HECT.				central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction	cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						TTACCAAGAAGCCATACATGG	0.348000														54			34		0	0	1	0	0
SPTBN4	57731	broad.mit.edu	37	19	40998936	40998936	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:40998936T>G	uc002ony.3	+	4	648	c.562T>G	c.(562-564)Ttg>Gtg	p.L188V	SPTBN4_uc002onx.3_Missense_Mutation_p.L188V|SPTBN4_uc002onz.3_Missense_Mutation_p.L188V	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 4 (SPTBN4), transcript variant sigma1, mRNA.	188	Actin-binding.|CH 2.				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	PML body|cytosol|nuclear matrix|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton	p.L188V(2)		breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TGCTCTGCTCTTGTGGTGTCA	0.502000														35			4		0	0	1	0	0
RBM10	8241	broad.mit.edu	37	X	47045959	47045959	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:47045959G>A	uc004dhi.3	+	23	3178	c.2949G>A	c.(2947-2949)ctG>ctA	p.L983L	RBM10_uc004dhf.3_Silent_p.L918L|RBM10_uc004dhh.3_Silent_p.L917L|RBM10_uc010nhq.3_Silent_p.L841L|RBM10_uc004dhg.3_Silent_p.L840L	NM_001204468	NP_001191397	P98175	RBM10_HUMAN	Homo sapiens RNA binding motif protein 10 (RBM10), transcript variant 5, mRNA.	918					RNA splicing|mRNA processing	chromatin remodeling complex	RNA binding|nucleotide binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						AGGAGACACTGCACAAGACAA	0.617000														8			8		0	0	1	0	0
SLC12A2	6558	broad.mit.edu	37	5	127516592	127516592	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:127516592C>T	uc003kus.3	+	22	3282	c.3118C>T	c.(3118-3120)Cct>Tct	p.P1040S	SLC12A2_uc010jdf.3_Non-coding_Transcript|SLC12A2_uc010jdg.3_Missense_Mutation_p.P1024S	NM_001046	NP_001037	P55011	S12A2_HUMAN	Homo sapiens solute carrier family 12 (sodium/potassium/chloride transporters), member 2 (SLC12A2), transcript variant 1, mRNA.	1040					potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity			breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	CTTATTGATACCTTACCTTCT	0.323000														73			32		0	0	1	0	0
ABCG5	64240	broad.mit.edu	37	2	44051083	44051083	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:44051083C>T	uc002rtn.3	-	8	1433	c.1293G>A	c.(1291-1293)ccG>ccA	p.P431P	ABCG5_uc002rtm.3_Silent_p.P36P|ABCG5_uc002rto.3_Silent_p.P260P|ABCG5_uc002rtp.3_Silent_p.P36P	NM_022436	NP_071881	Q9H222	ABCG5_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 5 (ABCG5), mRNA.	431	ABC transmembrane type-2.				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity	p.P431P(2)		breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				TGCCTGTGTACGGGGTGGCGC	0.537000														19			14		0	0	1	0	0
YWHAZ	7534	broad.mit.edu	37	8	101936203	101936203	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:101936203A>C	uc003yjx.2	-	4	796	c.658T>G	c.(658-660)Tta>Gta	p.L220V	YWHAZ_uc011lhe.1_Missense_Mutation_p.L220V|YWHAZ_uc003yjv.2_Missense_Mutation_p.L220V|YWHAZ_uc011lhf.1_Missense_Mutation_p.L220V|YWHAZ_uc003yjw.2_Missense_Mutation_p.L220V|YWHAZ_uc010mbq.2_Missense_Mutation_p.L143V|YWHAZ_uc011lhg.1_Missense_Mutation_p.L100V|YWHAZ_uc010mbr.2_Missense_Mutation_p.L220V	NM_003406	NP_663723	P63104	1433Z_HUMAN	Homo sapiens tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta polypeptide (YWHAZ), transcript variant 1, mRNA.	220					anti-apoptosis|mRNA metabolic process|platelet activation|signal transduction	cytosol|melanosome	transcription factor binding			large_intestine(1)|lung(2)	3	all_cancers(14;7.43e-06)|all_epithelial(15;2.77e-08)|Lung NSC(17;6.08e-05)|all_lung(17;0.000197)		Epithelial(11;2.79e-11)|all cancers(13;5.45e-09)|OV - Ovarian serous cystadenocarcinoma(57;4.75e-05)		Ginkgo biloba(DB01381)	TCTCTCAGTAATTGCATTATT	0.323000														74			57		0	0	1	0	0
SMTNL2	342527	broad.mit.edu	37	17	4498602	4498602	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:4498602G>T	uc002fyf.1	+	4	1036	c.969G>T	c.(967-969)gaG>gaT	p.E323D	SMTNL2_uc002fye.2_Missense_Mutation_p.E179D	NM_001114974	NP_940903	Q2TAL5	SMTL2_HUMAN	Homo sapiens smoothelin-like 2 (SMTNL2), transcript variant 1, mRNA.	323										breast(1)|endometrium(9)|kidney(1)|lung(1)|skin(1)	13				READ - Rectum adenocarcinoma(115;0.0325)		AGAAGTGGGAGCAGGAAACGG	0.692000														19			4		0.014758	0.0151755	1	1	0
SLC35D1	23169	broad.mit.edu	37	1	67486098	67486098	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:67486098G>A	uc001ddk.2	-	9	1214	c.830C>T	c.(829-831)aCg>aTg	p.T277M	SLC35D1_uc010oph.2_Missense_Mutation_p.T198M	NM_015139	NP_055954	Q9NTN3	S35D1_HUMAN	Homo sapiens solute carrier family 35 (UDP-glucuronic acid/UDP-N-acetylgalactosamine dual transporter), member D1 (SLC35D1), mRNA.	277					UDP-glucuronate biosynthetic process|chondroitin sulfate biosynthetic process|xenobiotic metabolic process	integral to endoplasmic reticulum membrane	UDP-N-acetylgalactosamine transmembrane transporter activity|UDP-glucuronic acid transmembrane transporter activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)	10					Lorazepam(DB00186)	ATTATACTGCGTGCAGAGTAC	0.333000														62			7		0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149485905	149485905	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:149485905C>T	uc010lpk.3	+	28	4124	c.4124C>T	c.(4123-4125)gCc>gTc	p.A1375V		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	1375	LDL-receptor class A 1.				cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CTTGTGCCTGCCTGTGCAGAG	0.612000														44			10		0	0	1	0	0
RCSD1	92241	broad.mit.edu	37	1	167666427	167666427	+	Missense_Mutation	SNP	C	T	T	rs148941543		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:167666427C>T	uc001gem.3	+	5	753	c.566C>T	c.(565-567)gCg>gTg	p.A189V	RCSD1_uc010pli.2_Missense_Mutation_p.A159V	NM_052862	NP_443094	Q6JBY9	CPZIP_HUMAN	Homo sapiens RCSD domain containing 1 (RCSD1), mRNA.	189										NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	24	all_hematologic(923;0.215)					GATTTCAGGGCGGTGGAGTCA	0.557000														37			41		0	0	1	0	0
TCERG1L	256536	broad.mit.edu	37	10	132891569	132891569	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:132891569C>A	uc001lkp.3	-	11	1703	c.1617G>T	c.(1615-1617)aaG>aaT	p.K539N		NM_174937	NP_777597	Q5VWI1	TCRGL_HUMAN	Homo sapiens transcription elongation regulator 1-like (TCERG1L), mRNA.	539	FF 2.									cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	31		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)		CTGCAAACTCCTTAAACGTGG	0.473000														48			30		5.90632e-09	6.97983e-09	1	1	0
MYBPC2	4606	broad.mit.edu	37	19	50940757	50940757	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:50940757G>T	uc002psf.2	+	5	542	c.491G>T	c.(490-492)aGt>aTt	p.S164I		NM_004533	NP_004524	Q14324	MYPC2_HUMAN	Homo sapiens myosin binding protein C, fast type (MYBPC2), mRNA.	164					cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		TCTGGGCAGAGTCTAGAAAGC	0.582000														7			6		2.0095e-06	2.27092e-06	1	1	0
RHPN1	114822	broad.mit.edu	37	8	144459625	144459625	+	Splice_Site	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:144459625G>T	uc003yyb.3	+	4	514	c.381_splice	c.e4+1	p.K127_splice		NM_052924	NP_443156	Q8TCX5	RHPN1_HUMAN	Homo sapiens rhophilin, Rho GTPase binding protein 1 (RHPN1), mRNA.	127	BRO1.				signal transduction	intracellular				endometrium(1)|large_intestine(1)|lung(7)	9	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.156)			CACCGCTGAAGGTAGGTACTG	0.582000														28			5		0.00116845	0.00123466	1	1	0
IRGQ	126298	broad.mit.edu	37	19	44097296	44097296	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:44097296C>T	uc002oww.2	-	1	872	c.754G>A	c.(754-756)Gct>Act	p.A252T	IRGQ_uc010eiv.2_Missense_Mutation_p.A252T	NM_001007561	NP_001007562	Q8WZA9	IRGQ_HUMAN	Homo sapiens immunity-related GTPase family, Q (IRGQ), mRNA.	252							protein binding			endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3)	18		Prostate(69;0.0199)				GCAGGCGCAGCGCCTGGGTCG	0.692000														14			12		0	0	1	0	0
MRPL10	124995	broad.mit.edu	37	17	45904016	45904016	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:45904016G>T	uc002ily.3	-	4	647	c.549C>A	c.(547-549)ttC>ttA	p.F183L	MRPL10_uc002ilz.3_Missense_Mutation_p.F173L|MRPL10_uc010wky.2_Missense_Mutation_p.F134L	NM_148887	NP_683685	Q7Z7H8	RM10_HUMAN	Homo sapiens mitochondrial ribosomal protein L10 (MRPL10), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	173					ribosome biogenesis|translation	mitochondrial large ribosomal subunit	structural constituent of ribosome			endometrium(3)|large_intestine(1)|lung(3)|ovary(1)	8						GCAGCGGCAGGAATGGCACAG	0.557000														39			24		1.1804e-14	1.48086e-14	1	1	0
SLC13A5	284111	broad.mit.edu	37	17	6606399	6606399	+	Missense_Mutation	SNP	C	A	A	rs143914994	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:6606399C>A	uc002gdj.3	-	4	694	c.606G>T	c.(604-606)aaG>aaT	p.K202N	SLC13A5_uc010clq.3_Missense_Mutation_p.K159N|SLC13A5_uc002gdk.3_Missense_Mutation_p.K185N|SLC13A5_uc010vtf.2_Missense_Mutation_p.K202N|SLC13A5_uc002gdl.1_Missense_Mutation_p.K184N	NM_177550	NP_808218	Q86YT5	S13A5_HUMAN	Homo sapiens solute carrier family 13 (sodium-dependent citrate transporter), member 5 (SLC13A5), transcript variant 1, mRNA.	202						integral to membrane	citrate transmembrane transporter activity	p.R201R(2)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1)	26						TACACAACCTCTTCCGCTCTT	0.637000														43			24		3.08376e-08	3.60755e-08	1	1	0
ALG3	10195	broad.mit.edu	37	3	183961690	183961690	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:183961690A>G	uc003fne.2	-	5	852	c.821T>C	c.(820-822)gTg>gCg	p.V274A	ALG3_uc011brc.1_Missense_Mutation_p.V239A|ALG3_uc011brd.1_Missense_Mutation_p.V218A|ALG3_uc011bre.1_Missense_Mutation_p.V226A	NM_005787	NP_005778	Q92685	ALG3_HUMAN	Homo sapiens asparagine-linked glycosylation 3, alpha-1,3- mannosyltransferase homolog (S. cerevisiae) (ALG3), transcript variant 1, mRNA.	274					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	alpha-1,3-mannosyltransferase activity			kidney(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GCGCCAGTTCACTGTCCAGTG	0.637000														30			7		0	0	1	0	0
BICD2	23299	broad.mit.edu	37	9	95481452	95481452	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:95481452C>T	uc004asp.1	-	4	1532	c.1475G>A	c.(1474-1476)aGc>aAc	p.S492N	BICD2_uc004aso.1_Missense_Mutation_p.S492N	NM_001003800	NP_001003800	Q8TD16	BICD2_HUMAN	Homo sapiens bicaudal D homolog 2 (Drosophila) (BICD2), transcript variant 1, mRNA.	492					microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	Golgi apparatus|cytoplasmic vesicle|cytoskeleton|plasma membrane	Rab GTPase binding			cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						GTCCTGGCGGCTGGCCTTCTC	0.672000														28			16		0	0	1	0	0
BMPER	168667	broad.mit.edu	37	7	34125702	34125702	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:34125702C>T	uc011kap.2	+	13	2117	c.1743C>T	c.(1741-1743)taC>taT	p.Y581Y		NM_133468	NP_597725	Q8N8U9	BMPER_HUMAN	Homo sapiens BMP binding endothelial regulator (BMPER), mRNA.	581					blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						CCACTTTCTACCGGTAAGTAC	0.483000														38			16		0	0	1	0	0
STT3A	3703	broad.mit.edu	37	11	125488335	125488335	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:125488335G>A	uc001qcd.2	+	15	1952	c.1842G>A	c.(1840-1842)gaG>gaA	p.E614E	STT3A_uc001qce.2_Silent_p.E614E|STT3A_uc010sbg.1_Silent_p.E522E|STT3A_uc009zbn.2_Silent_p.E336E	NM_152713	NP_689926	P46977	STT3A_HUMAN	Homo sapiens STT3, subunit of the oligosaccharyltransferase complex, homolog A (S. cerevisiae) (STT3A), mRNA.	614					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity			NS(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	33	all_hematologic(175;0.228)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996)		ATATCAAGGAGAATGACTATT	0.438000														73			33		0	0	1	0	0
ZNF16	7564	broad.mit.edu	37	8	146156218	146156218	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:146156218G>T	uc003zet.3	-	3	2142	c.1955C>A	c.(1954-1956)aCt>aAt	p.T652N	ZNF16_uc003zeu.3_Missense_Mutation_p.T652N	NM_001029976	NP_008889	P17020	ZNF16_HUMAN	Homo sapiens zinc finger protein 16 (ZNF16), transcript variant 2, mRNA.	652					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1)	29	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)		CTTCACCCCAGTGTGAATCCT	0.527000														77			40		7.04047e-22	9.13111e-22	1	1	0
BPIFA2	140683	broad.mit.edu	37	20	31757100	31757100	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:31757100C>T	uc002wyo.1	+	1	220	c.149C>T	c.(148-150)aCt>aTt	p.T50I		NM_080574	NP_542141	Q96DR5	SPLC2_HUMAN	Homo sapiens BPI fold containing family A, member 2 (BPIFA2), mRNA.	50						extracellular region	lipid binding										GTTGACAATACTCTTAAAGGT	0.458000														53			31		0	0	1	0	0
ANAPC5	51433	broad.mit.edu	37	12	121773353	121773353	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:121773353G>A	uc001uag.3	-	6	1055	c.933C>T	c.(931-933)caC>caT	p.H311H	ANAPC5_uc001uae.3_5'UTR|ANAPC5_uc010szv.2_5'UTR|ANAPC5_uc001uaf.3_Non-coding_Transcript|ANAPC5_uc001uah.3_Silent_p.H212H	NM_016237	NP_057321	Q9UJX4	APC5_HUMAN	Homo sapiens anaphase promoting complex subunit 5 (ANAPC5), transcript variant 1, mRNA.	311					G2/M transition of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity			breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CGAAGCGGCAGTGCAGGGCGG	0.512000														145			8		0	0	1	0	0
MRPS9	64965	broad.mit.edu	37	2	105713700	105713700	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:105713700G>A	uc002tcn.4	+	9	1085	c.1017G>A	c.(1015-1017)gcG>gcA	p.A339A		NM_182640	NP_872578	P82933	RT09_HUMAN	Homo sapiens mitochondrial ribosomal protein S9 (MRPS9), nuclear gene encoding mitochondrial protein, mRNA.	339					DNA damage response, detection of DNA damage|translation	mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						GGAGGTCAGCGCAGGCTGGAG	0.557000														36			25		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179495647	179495647	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179495647G>A	uc021vsy.1	-	186	36559	c.36334C>T	c.(36334-36336)Ccc>Tcc	p.P12112S	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Missense_Mutation_p.P5807S|TTN_uc021vta.1_Missense_Mutation_p.P5740S|TTN_uc021vtb.1_Missense_Mutation_p.P5615S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	13039	Ig-like 80.						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)			CTGTGCAGGGGTCGCACCAGT	0.493000														37			25		0	0	1	0	0
WDR85	92715	broad.mit.edu	37	9	140459020	140459020	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:140459020A>G	uc004cnk.1	-	7	973	c.815T>C	c.(814-816)aTg>aCg	p.M272T	WDR85_uc004cnj.1_Missense_Mutation_p.M1T|WDR85_uc004cnm.1_Missense_Mutation_p.M33T|WDR85_uc010ncl.1_Missense_Mutation_p.M33T	NM_138778	NP_620133	Q9BTV6	WDR85_HUMAN	Homo sapiens WD repeat domain 85 (WDR85), mRNA.	272					peptidyl-diphthamide biosynthetic process from peptidyl-histidine					breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)	8	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.00029)|Epithelial(140;0.000509)		CGGCTGCTTCATGTTTCGTGT	0.557000														63			7		0	0	1	0	0
MXD4	10608	broad.mit.edu	37	4	2252325	2252325	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:2252325G>A	uc003geu.1	-	5	608	c.576C>T	c.(574-576)ggC>ggT	p.G192G	MXD4_uc021xko.1_5'Flank|MXD4_uc021xkp.1_5'Flank	NM_006454	NP_006445	Q14582	MAD4_HUMAN	Homo sapiens MAX dimerization protein 4 (MXD4), mRNA.	192					negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|transcription corepressor activity			breast(1)|endometrium(1)|kidney(1)|lung(3)	6						AGCCACTGTCGCCGCCGGTGC	0.701000														9			4		0	0	1	0	0
KCNK16	83795	broad.mit.edu	37	6	39284631	39284631	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:39284631G>A	uc003oor.4	-	3	602	c.588C>T	c.(586-588)ggC>ggT	p.G196G	KCNK17_uc003oop.3_5'Flank|KCNK17_uc003ooo.3_5'Flank|KCNK16_uc003ooq.3_Silent_p.G196G|KCNK16_uc010jwy.3_Silent_p.G196G|KCNK16_uc011dtz.1_Silent_p.G196G	NM_001135105	NP_001128577	Q96T55	KCNKG_HUMAN	Homo sapiens potassium channel, subfamily K, member 16 (KCNK16), transcript variant 1, mRNA.	196						integral to membrane	potassium channel activity|voltage-gated ion channel activity	p.E195K(1)		large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)	13						TGAAGCTCCAGCCCTCCACAT	0.532000														94			50		0	0	1	0	0
AGAP3	116988	broad.mit.edu	37	7	150840969	150840969	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:150840969G>A	uc003wjg.1	+	17	2678	c.2675G>A	c.(2674-2676)aGa>aAa	p.R892K	AGAP3_uc003wje.1_Missense_Mutation_p.R561K|AGAP3_uc003wjj.1_Missense_Mutation_p.R391K|AGAP3_uc003wjk.1_Missense_Mutation_p.R310K	NM_031946	NP_114152	Q96P47	AGAP3_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 3 (AGAP3), transcript variant 1, mRNA.	856					regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						ACCCCCAACAGAGAGCCTGCC	0.632000														31			47		0	0	1	0	0
KRT33B	3884	broad.mit.edu	37	17	39522799	39522799	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:39522799G>A	uc002hwl.3	-	2	556	c.511C>T	c.(511-513)Ctg>Ttg	p.L171L		NM_002279	NP_002270	Q14525	KT33B_HUMAN	Homo sapiens keratin 33B (KRT33B), mRNA.	171	Coil 1B.|Rod.					intermediate filament	protein binding|structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000496)				GACCTGCACAGGGTCAGCTCA	0.602000														36			22		0	0	1	0	0
CSPG5	10675	broad.mit.edu	37	3	47614279	47614279	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:47614279C>T	uc003crp.4	-	2	1455	c.1279G>A	c.(1279-1281)Ggc>Agc	p.G427S	CSPG5_uc003crn.3_Missense_Mutation_p.G289S|CSPG5_uc003cro.4_Missense_Mutation_p.G427S|CSPG5_uc021wxh.1_Missense_Mutation_p.G427S|CSPG5_uc021wxi.1_Missense_Mutation_p.G289S|CSPG5_uc011bbb.2_Missense_Mutation_p.G289S	NM_001206943	NP_001193872	O95196	CSPG5_HUMAN	Homo sapiens chondroitin sulfate proteoglycan 5 (neuroglycan C) (CSPG5), transcript variant 3, mRNA.	427					cell differentiation|intracellular transport|nervous system development|regulation of growth	Golgi-associated vesicle membrane|endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	growth factor activity	p.G427G(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	22				BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		GCAGCCGAGCCCACGGCCACG	0.582000														27			16		0	0	1	0	0
HIRA	7290	broad.mit.edu	37	22	19385612	19385612	+	Splice_Site	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:19385612T>C	uc002zpf.1	-	6	618	c.398_splice	c.e6-1	p.D133_splice	HIRA_uc011agx.1_Splice_Site|HIRA_uc010grn.1_Splice_Site_p.D133_splice|HIRA_uc010gro.2_Splice_Site_p.D89_splice|HIRA_uc010grp.3_Splice_Site	NM_003325	NP_003316	P54198	HIRA_HUMAN	Homo sapiens HIR histone cell cycle regulation defective homolog A (S. cerevisiae) (HIRA), mRNA.	133					chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					CCATCACATCTGAAAGAAGAC	0.527000														19			3		0	0	1	0	0
CD163L1	283316	broad.mit.edu	37	12	7519886	7519886	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:7519886G>T	uc010sge.2	-	17	4281	c.4255C>A	c.(4255-4257)Cat>Aat	p.H1419N	CD163L1_uc001qsy.3_Missense_Mutation_p.H1409N	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA.	1409						extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						TCCATCTCATGGAATAAATTC	0.488000														26			15		6.49762e-13	8.04122e-13	1	1	0
RGAG1	57529	broad.mit.edu	37	X	109695589	109695589	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:109695589G>A	uc004eor.2	+	2	1990	c.1744G>A	c.(1744-1746)Gcc>Acc	p.A582T	RGAG1_uc011msr.1_Missense_Mutation_p.A582T	NM_020769	NP_065820	Q8NET4	RGAG1_HUMAN	Homo sapiens retrotransposon gag domain containing 1 (RGAG1), mRNA.	582										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						ACTAATGACAGCCCAAACCTC	0.498000														54			29		0	0	1	0	0
PLXNB3	5365	broad.mit.edu	37	X	153035557	153035557	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153035557C>T	uc010nuk.2	+	8	1980	c.1709C>T	c.(1708-1710)tCt>tTt	p.S570F	PLXNB3_uc011mzb.1_Missense_Mutation_p.S83F|PLXNB3_uc011mzc.2_Missense_Mutation_p.S229F|PLXNB3_uc004fii.2_Missense_Mutation_p.S547F|PLXNB3_uc011mzd.1_Missense_Mutation_p.S186F	NM_001163257	NP_001156729	Q9ULL4	PLXB3_HUMAN	Homo sapiens plexin B3 (PLXNB3), transcript variant 2, mRNA.	547					axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					GTCACTTTGTCTGTCCCCCGG	0.617000														49			27		0	0	1	0	0
MARCH4	57574	broad.mit.edu	37	2	217142452	217142452	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:217142452C>A	uc002vgb.3	-	2	2575	c.808G>T	c.(808-810)Gac>Tac	p.D270Y		NM_020814	NP_065865	Q9P2E8	MARH4_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 4 (MARCH4), mRNA.	270						Golgi membrane|Golgi stack|integral to membrane|trans-Golgi network	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1)	20		Renal(323;0.0854)		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)		AAGAGAAGGTCTTGGCGCTGC	0.562000														104			12		3.27435e-08	3.82583e-08	1	1	0
ANKRD11	29123	broad.mit.edu	37	16	89350925	89350925	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:89350925C>A	uc002fmx.1	-	8	2486	c.2025G>T	c.(2023-2025)gaG>gaT	p.E675D	ANKRD11_uc002fmy.1_Missense_Mutation_p.E675D|ANKRD11_uc002fnc.1_Missense_Mutation_p.E675D|ANKRD11_uc002fnb.1_Missense_Mutation_p.E632D	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	Homo sapiens ankyrin repeat domain 11 (ANKRD11), transcript variant 2, mRNA.	675	Lys-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		AAAGATCATTCTCTAACAGTA	0.368000														219			15		6.31663e-08	7.34157e-08	1	1	0
SIPA1	6494	broad.mit.edu	37	11	65413705	65413705	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:65413705G>A	uc001ofb.2	+	6	1444	c.1277G>A	c.(1276-1278)cGc>cAc	p.R426H	SIPA1_uc010rom.1_Missense_Mutation_p.R426H|SIPA1_uc001ofd.2_Missense_Mutation_p.R426H|MIR4489_uc021qlo.1_5'Flank	NM_006747	NP_694985	Q96FS4	SIPA1_HUMAN	Homo sapiens signal-induced proliferation-associated 1 (SIPA1), transcript variant 2, mRNA.	426	Rap-GAP.				cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth	cytosol|endomembrane system|membrane|perinuclear region of cytoplasm	Rap GTPase activator activity			cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						CTCCGGAAGCGCCACATTGGC	0.587000														32			44		0	0	1	0	0
TEX14	56155	broad.mit.edu	37	17	56688591	56688591	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:56688591C>T	uc010dcz.2	-	9	1251	c.1133G>A	c.(1132-1134)aGc>aAc	p.S378N	TEX14_uc002iwr.2_Missense_Mutation_p.S372N|TEX14_uc002iws.2_Missense_Mutation_p.S372N|TEX14_uc010dda.2_Missense_Mutation_p.S152N	NM_001201457	NP_001188386	Q8IWB6	TEX14_HUMAN	Homo sapiens testis expressed 14 (TEX14), transcript variant 3, mRNA.	378	Protein kinase.					cytoplasm	ATP binding|protein kinase activity			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AGCATAGGAGCTGAGGGAGCG	0.532000														96			57		0	0	1	0	0
DDC	1644	broad.mit.edu	37	7	50530956	50530956	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:50530956G>A	uc003tpg.4	-	13	1617	c.1416C>T	c.(1414-1416)gcC>gcT	p.A472A	DDC_uc022ade.1_Silent_p.A394A|DDC_uc003tpf.4_Silent_p.A472A|DDC_uc022adb.1_Silent_p.A434A|DDC_uc022adc.1_Silent_p.A424A|DDC_uc022add.1_Silent_p.A379A	NM_001082971	NP_001076440	P20711	DDC_HUMAN	Homo sapiens dopa decarboxylase (aromatic L-amino acid decarboxylase) (DDC), transcript variant 1, mRNA.	472					cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)	GCAGCACGTCGGCCGCCAGCT	0.597000														16			4		0	0	1	0	0
RRAD	6236	broad.mit.edu	37	16	66956204	66956204	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:66956204C>T	uc002eqn.2	-	4	854	c.702G>A	c.(700-702)gcG>gcA	p.A234A	RRAD_uc002eqo.2_Silent_p.A234A	NM_001128850	NP_004156	P55042	RAD_HUMAN	Homo sapiens Ras-related associated with diabetes (RRAD), transcript variant 1, mRNA.	234					small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity|calmodulin binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0862)|Epithelial(162;0.198)		GGTGCAATGCCGCTGATGTCT	0.592000														40			19		0	0	1	0	0
CBX4	8535	broad.mit.edu	37	17	77808613	77808613	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:77808613C>T	uc002jxe.3	-	4	991	c.828G>A	c.(826-828)gcG>gcA	p.A276A		NM_003655	NP_003646	O00257	CBX4_HUMAN	Homo sapiens chromobox homolog 4 (CBX4), mRNA.	276	Interaction with BMI1.				anti-apoptosis|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|PcG protein complex	enzyme binding|transcription corepressor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			TGATCTTCACCGCCTGCATGC	0.592000											OREG0024799	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		95			66		0	0	1	0	0
OR5H1	26341	broad.mit.edu	37	3	97851814	97851814	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:97851814G>A	uc011bgt.2	+	0	273	c.273G>A	c.(271-273)atG>atA	p.M91I		NM_001005338	NP_001005338	A6NKK0	OR5H1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 1 (OR5H1), mRNA.	91					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						AGAGTAAGATGATATCTCTCT	0.393000														115			67		0	0	1	0	0
DPP6	1804	broad.mit.edu	37	7	154143357	154143357	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:154143357T>C	uc003wlk.3	+	1	431	c.302T>C	c.(301-303)cTt>cCt	p.L101P	DPP6_uc003wli.3_Missense_Mutation_p.L37P|DPP6_uc003wlj.3_Missense_Mutation_p.L101P|DPP6_uc010lqh.1_Missense_Mutation_p.L39P|DPP6_uc003wlm.3_Missense_Mutation_p.L39P|DPP6_uc011kvq.2_Missense_Mutation_p.L39P	NM_130797	NP_570629	P42658	DPP6_HUMAN	Homo sapiens dipeptidyl-peptidase 6 (DPP6), transcript variant 1, mRNA.	101					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			ATTGCACTGCTTGTCATTCTG	0.458000														45			48		0	0	1	0	0
ATP8A1	10396	broad.mit.edu	37	4	42445621	42445621	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:42445621C>T	uc003gwr.2	-	32	3316	c.3084G>A	c.(3082-3084)ctG>ctA	p.L1028L	ATP8A1_uc003gwq.2_Silent_p.L254L|ATP8A1_uc003gws.2_Silent_p.L1013L	NM_006095	NP_006086	Q9Y2Q0	AT8A1_HUMAN	Homo sapiens ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1 (ATP8A1), transcript variant 1, mRNA.	1028					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|aminophospholipid transporter activity|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	TGGCAGGCCACAGAGATGAGT	0.438000														15			9		0	0	1	0	0
MS4A10	341116	broad.mit.edu	37	11	60567302	60567302	+	Splice_Site	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:60567302C>T	uc001npz.1	+	8	819	c.723_splice	c.e8-1	p.R241_splice		NM_206893	NP_996776	Q96PG2	M4A10_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 10 (MS4A10), mRNA.	241						integral to membrane	receptor activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|skin(2)	21						ttcatgcaggctcagagaagt	0.463000														4			4		0	0	1	0	0
PIWIL3	440822	broad.mit.edu	37	22	25147375	25147375	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:25147375G>T	uc003abd.1	-	8	1485	c.1068C>A	c.(1066-1068)acC>acA	p.T356T	PIWIL3_uc011ajx.1_Silent_p.T247T|PIWIL3_uc010gut.1_Silent_p.T356T|PIWIL3_uc011ajy.1_Silent_p.T247T	NM_001008496	NP_001008496	Q7Z3Z3	PIWL3_HUMAN	Homo sapiens piwi-like 3 (Drosophila) (PIWIL3), transcript variant 1, mRNA.	356	PAZ.				cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						AGTCTATATAGGTGATTTTGC	0.313000														204			14		2.61681e-11	3.19342e-11	1	1	0
FUT9	10690	broad.mit.edu	37	6	96651394	96651394	+	Silent	SNP	T	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:96651394T>A	uc003pop.4	+	2	704	c.363T>A	c.(361-363)ccT>ccA	p.P121P	FUT9_uc021zcw.1_Silent_p.P121P	NM_006581	NP_006572	Q9Y231	FUT9_HUMAN	Homo sapiens fucosyltransferase 9 (alpha (1,3) fucosyltransferase) (FUT9), mRNA.	121					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		CAAATTTACCTCAGCAAGCTA	0.463000														41			8		0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195516511	195516511	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:195516511T>C	uc021xjp.1	-	1	2096	c.1940A>G	c.(1939-1941)cAa>cGa	p.Q647R	MUC4_uc003fvo.3_Intron|MUC4_uc003fvp.3_Intron|MUC4_uc021xjq.1_Missense_Mutation_p.Q529R	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	652					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TTGTGATTCTTGTGTGGTCTG	0.532000														93			57		0	0	1	0	0
CDX2	1045	broad.mit.edu	37	13	28537431	28537431	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:28537431G>A	uc001urv.3	-	2	937	c.763C>T	c.(763-765)Cag>Tag	p.Q255*		NM_001265	NP_001256	Q99626	CDX2_HUMAN	Homo sapiens caudal type homeobox 2 (CDX2), mRNA.	255	Poly-Gln.				organ morphogenesis|transcription from RNA polymerase II promoter		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(1)|lung(6)	9	all_cancers(110;0.191)|all_hematologic(3;0.0447)|Acute lymphoblastic leukemia(6;0.155)	Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0407)|all cancers(112;0.0491)|OV - Ovarian serous cystadenocarcinoma(117;0.199)		GGTGgctgctgctgctgttgc	0.552000			T	ETV6	AML									12			16		0	0	1	0	0
NMBR	4829	broad.mit.edu	37	6	142409507	142409507	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:142409507C>T	uc003qiu.3	-	0	430	c.289G>A	c.(289-291)Gtc>Atc	p.V97I		NM_002511	NP_002502	P28336	NMBR_HUMAN	Homo sapiens neuromedin B receptor (NMBR), mRNA.	97					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	cytoplasm|integral to plasma membrane	bombesin receptor activity			breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)		TCCACCGGGACGCAGGTGAGC	0.592000														18			7		0	0	1	0	0
ATP4A	495	broad.mit.edu	37	19	36044680	36044680	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:36044680G>T	uc002oal.1	-	16	2562	c.2533C>A	c.(2533-2535)Ctg>Atg	p.L845M	ATP4A_uc010eee.1_Missense_Mutation_p.L3M	NM_000704	NP_000695	P20648	ATP4A_HUMAN	Homo sapiens ATPase, H+/K+ exchanging, alpha polypeptide (ATP4A), mRNA.	845					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	CGTGGACGCAGGTGCATGATG	0.607000														7			5		1.23904e-05	1.3743e-05	1	1	0
NEGR1	257194	broad.mit.edu	37	1	72241855	72241855	+	Splice_Site	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:72241855C>A	uc001dfw.3	-	3	763	c.535_splice	c.e3+1	p.A179_splice	NEGR1_uc001dfv.3_Splice_Site_p.A51_splice|NEGR1_uc010oqs.2_Splice_Site_p.V179_splice	NM_173808	NP_776169	Q7Z3B1	NEGR1_HUMAN	Homo sapiens neuronal growth regulator 1 (NEGR1), mRNA.	179	Ig-like C2-type 2.				cell adhesion	anchored to membrane|plasma membrane				endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)		CCTACTTTACCTGATGGGGAG	0.408000														16			10		3.86212e-05	4.23294e-05	1	1	0
DNTTIP1	116092	broad.mit.edu	37	20	44439805	44439805	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:44439805C>T	uc002xpk.3	+	12	1029	c.961C>T	c.(961-963)Cgt>Tgt	p.R321C	UBE2C_uc002xpl.3_5'Flank|UBE2C_uc002xpm.3_5'Flank|UBE2C_uc002xpn.3_5'Flank|UBE2C_uc002xpo.3_5'Flank|UBE2C_uc002xpp.3_5'Flank|UBE2C_uc002xpq.3_5'Flank	NM_052951	NP_443183	Q9H147	TDIF1_HUMAN	Homo sapiens deoxynucleotidyltransferase, terminal, interacting protein 1 (DNTTIP1), mRNA.	321						nucleus				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)	9		Myeloproliferative disorder(115;0.0122)				GAATGAGCATCGTGCTGTTGA	0.557000														54			43		0	0	1	0	0
CLGN	1047	broad.mit.edu	37	4	141320176	141320176	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:141320176G>A	uc011chi.2	-	8	931	c.713C>T	c.(712-714)aCa>aTa	p.T238I	CLGN_uc003iii.3_Missense_Mutation_p.T238I	NM_001130675	NP_004353	O14967	CLGN_HUMAN	Homo sapiens calmegin (CLGN), transcript variant 2, mRNA.	238					protein folding	endoplasmic reticulum membrane|integral to membrane	calcium ion binding|unfolded protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1)	25	all_hematologic(180;0.162)					CACCTCAAATGTGTCATCTGG	0.338000														35			18		0	0	1	0	0
CELSR1	9620	broad.mit.edu	37	22	46931795	46931795	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:46931795G>A	uc003bhw.1	-	0	1273	c.1273C>T	c.(1273-1275)Ctc>Ttc	p.L425F		NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila) (CELSR1), mRNA.	425	Cadherin 2.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		TCCACCAGGAGCTGGTACTCG	0.682000														13			6		0	0	1	0	0
PRDX4	10549	broad.mit.edu	37	X	23685739	23685739	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:23685739C>T	uc004dam.3	+	0	95	c.52C>T	c.(52-54)Cga>Tga	p.R18*		NM_006406	NP_006397	Q13162	PRDX4_HUMAN	Homo sapiens peroxiredoxin 4 (PRDX4), mRNA.	18					I-kappaB phosphorylation|cell redox homeostasis		thioredoxin peroxidase activity			lung(6)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	9						CGGCCGCCACCGAAGgctgct	0.687000														4			4		0	0	1	0	0
GPR89A	653519	broad.mit.edu	37	1	145771706	145771706	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:145771706G>A	uc001eot.2	-	10	1108	c.934C>T	c.(934-936)Cga>Tga	p.R312*	GPR89A_uc001eop.2_Nonsense_Mutation_p.R10*|GPR89A_uc001eoq.2_Non-coding_Transcript|GPR89A_uc010ozb.1_Nonsense_Mutation_p.R287*|GPR89A_uc010ozc.1_Nonsense_Mutation_p.R287*|GPR89A_uc001eos.2_Nonsense_Mutation_p.R192*|GPR89A_uc010ozd.1_Nonsense_Mutation_p.R259*|GPR89A_uc010oze.1_Nonsense_Mutation_p.R312*	NM_001097612	NP_001091082	B7ZAQ6	GPHRA_HUMAN	Homo sapiens G protein-coupled receptor 89A (GPR89A), transcript variant 1, mRNA.	312					intracellular pH reduction|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein transport	Golgi cisterna membrane|Golgi-associated vesicle membrane|integral to membrane	signal transducer activity|voltage-gated anion channel activity			breast(1)|large_intestine(3)|lung(1)|skin(1)	6	all_hematologic(18;0.00473)|Acute lymphoblastic leukemia(18;0.0786)		KIRC - Kidney renal clear cell carcinoma(6;0.0764)|Kidney(552;0.118)|Colorectal(543;0.229)			TTCCCAACTCGATCAAAAACA	0.363000														60			55		0	0	1	0	0
ABCC8	6833	broad.mit.edu	37	11	17452370	17452370	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:17452370G>T	uc001mnc.3	-	11	1934	c.1808C>A	c.(1807-1809)gCt>gAt	p.A603D	ABCC8_uc010rcy.1_Missense_Mutation_p.A602D	NM_000352	NP_000343	Q09428	ABCC8_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 8 (ABCC8), mRNA.	603					carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	CCTCACTAGAGCTTTGACGGT	0.602000														132			60		2.66076e-39	3.53513e-39	1	1	0
GSPT2	23708	broad.mit.edu	37	X	51486831	51486831	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:51486831G>A	uc004dpl.3	+	0	351	c.109G>A	c.(109-111)Gcc>Acc	p.A37T		NM_018094	NP_060564	Q8IYD1	ERF3B_HUMAN	Homo sapiens G1 to S phase transition 2 (GSPT2), mRNA.	37					cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|translational termination	cytoplasm	GTP binding|GTPase activity|protein binding			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Ovarian(276;0.236)					CTCTGCGGTGGCCGAGGCCCA	0.687000														15			20		0	0	1	0	0
CPXM1	56265	broad.mit.edu	37	20	2775939	2775939	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:2775939A>C	uc002wgu.3	-	11	1918	c.1844T>G	c.(1843-1845)cTc>cGc	p.L615R	CPXM1_uc010gas.3_Missense_Mutation_p.L541R	NM_019609	NP_062555	Q96SM3	CPXM1_HUMAN	Homo sapiens carboxypeptidase X (M14 family), member 1 (CPXM1), transcript variant 1, mRNA.	615					cell adhesion|proteolysis		metallocarboxypeptidase activity|zinc ion binding			endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						CAGGTAGGTGAGGAGGGCGTC	0.567000														32			28		0	0	1	0	0
RBP1	5947	broad.mit.edu	37	3	139257633	139257633	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:139257633C>T	uc003eti.2	-	1	539	c.428G>A	c.(427-429)cGc>cAc	p.R143H	RBP1_uc011bmx.2_Missense_Mutation_p.R143H|RBP1_uc010huj.3_Non-coding_Transcript|RBP1_uc011bmy.2_Missense_Mutation_p.R143H	NM_002899	NP_002890	P09455	RET1_HUMAN	Homo sapiens retinol binding protein 1, cellular (RBP1), transcript variant 1, mRNA.	81						cytoplasm	retinal binding|retinol binding|transporter activity			endometrium(1)|large_intestine(2)|lung(1)|prostate(1)	5					Vitamin A(DB00162)	CATGCACTTGCGGTCATCTAT	0.572000														58			21		0	0	1	0	0
CYP11B1	1584	broad.mit.edu	37	8	143957747	143957747	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:143957747G>A	uc010mey.3	-	6	1084	c.1077C>T	c.(1075-1077)agC>agT	p.S359S	CYP11B1_uc010mex.3_5'Flank|CYP11B1_uc003yxh.3_5'UTR|CYP11B1_uc003yxi.3_Silent_p.S288S|CYP11B1_uc003yxj.3_Silent_p.S288S	NM_000497	NP_000488	P15538	C11B1_HUMAN	Homo sapiens cytochrome P450, family 11, subfamily B, polypeptide 1 (CYP11B1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	288					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	CCGCCACGATGCTGGTGTACT	0.587000									Familial Hyperaldosteronism type I					14			8		0	0	1	0	0
OR5V1	81696	broad.mit.edu	37	6	29323529	29323529	+	Nonsense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:29323529G>T	uc011dlo.2	-	0	526	c.444C>A	c.(442-444)tgC>tgA	p.C148*		NM_030876	NP_110503	Q9UGF6	OR5V1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily V, member 1 (OR5V1), mRNA.	148					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CAGCAGCCCAGCATGAGGCTG	0.433000														70			6		0.217242	0.21859	1	1	0
MOGS	7841	broad.mit.edu	37	2	74689222	74689222	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:74689222C>T	uc010ffj.3	-	3	1857	c.1694G>A	c.(1693-1695)cGg>cAg	p.R565Q	MOGS_uc010ffh.3_Missense_Mutation_p.R290Q|MOGS_uc010yrt.2_Missense_Mutation_p.R446Q|MOGS_uc010ffi.3_Missense_Mutation_p.R459Q	NM_006302	NP_001139630	Q13724	MOGS_HUMAN	Homo sapiens mannosyl-oligosaccharide glucosidase (MOGS), transcript variant 1, mRNA.	565					oligosaccharide metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding	endoplasmic reticulum membrane|integral to membrane|membrane fraction	mannosyl-oligosaccharide glucosidase activity			cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2)	23						GGCAGGGTCCCGTCCCCGCCA	0.627000														67			49		0	0	1	0	0
MC5R	4161	broad.mit.edu	37	18	13826657	13826657	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:13826657G>A	uc010xaf.2	+	0	1115	c.893G>A	c.(892-894)cGc>cAc	p.R298H		NM_005913	NP_005904	P33032	MC5R_HUMAN	Homo sapiens melanocortin 5 receptor (MC5R), mRNA.	298					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding	p.R298C(2)		NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						TATGCCTTCCGCAGCCAAGAG	0.478000														75			50		0	0	1	0	0
C11orf24	53838	broad.mit.edu	37	11	68029758	68029758	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:68029758C>T	uc001onr.4	-	3	1147	c.705G>A	c.(703-705)aaG>aaA	p.K235K		NM_022338	NP_071733	Q96F05	CK024_HUMAN	Homo sapiens chromosome 11 open reading frame 24 (C11orf24), mRNA.	235	Pro-rich.					integral to membrane				endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)	13						TGGGCATGTGCTTGGAAGGAC	0.582000														75			31		0	0	1	0	0
GDF11	10220	broad.mit.edu	37	12	56142563	56142563	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56142563C>T	uc001shq.3	+	1	676	c.639C>T	c.(637-639)ggC>ggT	p.G213G		NM_005811	NP_005802	O95390	GDF11_HUMAN	Homo sapiens growth differentiation factor 11 (GDF11), mRNA.	213	Poly-Gly.				growth|mesoderm development|skeletal system development	extracellular space	cytokine activity|growth factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|urinary_tract(1)	12						GGGGAGGGGGCGGAGGCCGGC	0.602000														10			14		0	0	1	0	0
HEATR2	54919	broad.mit.edu	37	7	794228	794228	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:794228C>T	uc010krz.1	+	4	1047	c.1027C>T	c.(1027-1029)Cgc>Tgc	p.R343C	HEATR2_uc003siz.2_Missense_Mutation_p.R211C	NM_017802	NP_060272	Q86Y56	HEAT2_HUMAN	Homo sapiens HEAT repeat containing 2 (HEATR2), mRNA.	343							protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1)	22		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)		CGTTCCAGAGCGCCGCCCTGT	0.547000														100			147		0	0	1	0	0
ADCK2	90956	broad.mit.edu	37	7	140373929	140373929	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:140373929C>A	uc003vvy.1	+	0	977	c.799C>A	c.(799-801)Ctc>Atc	p.L267I	ADCK2_uc003vvz.3_Missense_Mutation_p.L267I	NM_052853	NP_443085	Q7Z695	ADCK2_HUMAN	Homo sapiens aarF domain containing kinase 2 (ADCK2), mRNA.	267	Protein kinase.					integral to membrane	ATP binding|protein serine/threonine kinase activity	p.L267L(2)		cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4)	15	Melanoma(164;0.00956)					TCCAGAAAATCTCGCAGACCA	0.577000														72			5		1	1	1	1	0
UBXN10	127733	broad.mit.edu	37	1	20517755	20517755	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:20517755C>T	uc001bdb.3	+	1	785	c.701C>T	c.(700-702)aCc>aTc	p.T234I	UBXN10_uc021oia.1_Missense_Mutation_p.T234I	NM_152376	NP_689589	Q96LJ8	UBX10_HUMAN	Homo sapiens UBX domain protein 10 (UBXN10), mRNA.	234	UBX.									endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|skin(2)	14						AAAAACAAAACCTCCTACCGA	0.488000														36			22		0	0	1	0	0
USP20	10868	broad.mit.edu	37	9	132636916	132636916	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:132636916G>T	uc004bys.2	+	17	2013	c.1802G>T	c.(1801-1803)aGc>aTc	p.S601I	USP20_uc004byr.2_Missense_Mutation_p.S601I|USP20_uc004byt.1_Missense_Mutation_p.S601I	NM_001110303	NP_006667	Q9Y2K6	UBP20_HUMAN	Homo sapiens ubiquitin specific peptidase 20 (USP20), transcript variant 3, mRNA.	601					endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	G-protein-coupled receptor binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11		Ovarian(14;0.00556)				AAGATCAACAGCCACGTCTCC	0.577000														32			10		0.00136819	0.00144449	1	1	0
TTBK1	84630	broad.mit.edu	37	6	43223591	43223591	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:43223591C>T	uc003ouq.1	+	8	1137	c.858C>T	c.(856-858)taC>taT	p.Y286Y		NM_032538	NP_115927	Q5TCY1	TTBK1_HUMAN	Homo sapiens tau tubulin kinase 1 (TTBK1), mRNA.	286	Protein kinase.					cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			AGCCCGACTACCAGGTGGGAG	0.617000														36			13		0	0	1	0	0
CCDC88C	440193	broad.mit.edu	37	14	91780360	91780360	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:91780360C>T	uc010aty.3	-	14	1954	c.1800G>A	c.(1798-1800)acG>acA	p.T600T		NM_001080414	NP_001073883	Q9P219	DAPLE_HUMAN	Homo sapiens coiled-coil domain containing 88C (CCDC88C), mRNA.	600					Wnt receptor signaling pathway|microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation	cytoplasm|insoluble fraction	PDZ domain binding|microtubule binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				CATTGGCCTCCGTCACCGTCT	0.622000														24			11		0	0	1	0	0
TMEM132D	121256	broad.mit.edu	37	12	129558831	129558831	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:129558831G>T	uc009zyl.1	-	8	3217	c.2889C>A	c.(2887-2889)gaC>gaA	p.D963E	TMEM132D_uc001uia.2_Missense_Mutation_p.D501E	NM_133448	NP_597705	Q14C87	T132D_HUMAN	Homo sapiens transmembrane protein 132D (TMEM132D), mRNA.	963						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		ACCCAACCCAGTCATGAGAGT	0.468000														97			12		0.000151284	0.000164177	1	1	0
DHX8	1659	broad.mit.edu	37	17	41601141	41601141	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:41601141C>T	uc002idu.1	+	22	3661	c.3589C>T	c.(3589-3591)Cgt>Tgt	p.R1197C	DHX8_uc010wig.2_Intron	NM_004941	NP_004932	Q14562	DHX8_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 8 (DHX8), mRNA.	1197						catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|RNA binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		GAAGCAACAGCGTCTTGAACC	0.512000														42			23		0	0	1	0	0
SEMA3E	9723	broad.mit.edu	37	7	83014660	83014660	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:83014660C>A	uc003uhy.2	-	15	2446	c.1825G>T	c.(1825-1827)Gcg>Tcg	p.A609S	SEMA3E_uc022agy.1_Missense_Mutation_p.A549S	NM_012431	NP_001171600	O15041	SEM3E_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E (SEMA3E), transcript variant 1, mRNA.	609	Ig-like C2-type.				axon guidance	extracellular space|membrane	receptor activity			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				ATAACTTTCGCTTGTAAAGAT	0.398000														193			13		2.32078e-09	2.76369e-09	1	1	0
TRPM6	140803	broad.mit.edu	37	9	77377064	77377064	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:77377064T>C	uc004ajl.1	-	25	4761	c.4523A>G	c.(4522-4524)cAg>cGg	p.Q1508R	TRPM6_uc004ajk.1_Missense_Mutation_p.Q1503R|TRPM6_uc022bib.1_Missense_Mutation_p.Q1503R|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron|TRPM6_uc004ajj.1_Missense_Mutation_p.Q464R	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 6 (TRPM6), transcript variant a, mRNA.	1508					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						TTCACTACTCTGGGCCGATCT	0.527000														73			8		0	0	1	0	0
MGA	23269	broad.mit.edu	37	15	42042025	42042025	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:42042025C>T	uc010ucy.2	+	16	6401	c.6220C>T	c.(6220-6222)Cgt>Tgt	p.R2074C	MGA_uc010ucz.2_Missense_Mutation_p.R1865C|MGA_uc010uda.1_Missense_Mutation_p.R690C|MGA_uc001zoi.3_Missense_Mutation_p.R288C	NM_001164273	NP_001157745	Q8IWI9	MGAP_HUMAN	Homo sapiens MAX gene associated (MGA), transcript variant 1, mRNA.	2035						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		GGCTAGGAATCGTAAGAGTTC	0.378000														40			25		0	0	1	0	0
TFAP2D	83741	broad.mit.edu	37	6	50719023	50719023	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:50719023T>C	uc003paf.3	+	6	1637	c.1125T>C	c.(1123-1125)caT>caC	p.H375H	TFAP2D_uc011dwt.2_Non-coding_Transcript	NM_172238	NP_758438	Q7Z6R9	AP2D_HUMAN	Homo sapiens transcription factor AP-2 delta (activating enhancer binding protein 2 delta) (TFAP2D), mRNA.	375	H-S-H (helix-span-helix), dimerization.						DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					TCCAGAGACATTTAACACATT	0.403000														44			5		0	0	1	0	0
MEGF11	84465	broad.mit.edu	37	15	66190420	66190420	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:66190420C>T	uc002apm.2	-	22	3128	c.2987G>A	c.(2986-2988)aGt>aAt	p.S996N	MEGF11_uc002apl.2_Missense_Mutation_p.S921N	NM_032445	NP_115821	A6BM72	MEG11_HUMAN	Homo sapiens multiple EGF-like-domains 11 (MEGF11), mRNA.	996						basolateral plasma membrane|integral to membrane				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	19						TTGGACCACACTGACTGTGGG	0.448000														24			5		0	0	1	0	0
KRT8P41	283102	broad.mit.edu	37	11	9116823	9116823	+	RNA	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:9116823C>T	uc010rbv.1	+	0		c.914C>T								Homo sapiens keratin 8 pseudogene 41 (KRT8P41), non-coding RNA.																		GAGGTCAAGGCGCAGTACAAG	0.572000														9			15		0	0	1	0	0
APBB2	323	broad.mit.edu	37	4	41015670	41015670	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:41015670C>T	uc003gvn.3	-	5	1395	c.765G>A	c.(763-765)ccG>ccA	p.P255P	APBB2_uc003gvl.3_Silent_p.P255P|APBB2_uc003gvm.3_Silent_p.P255P|APBB2_uc011byt.1_Silent_p.P238P	NM_004307	NP_004298	Q92870	APBB2_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family B, member 2 (APBB2), transcript variant 1, mRNA.	255					cell cycle arrest|intracellular signal transduction|negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|regulation of transcription, DNA-dependent	growth cone|lamellipodium|membrane|nucleus|synapse	beta-amyloid binding|transcription factor binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						CCTCATCGCTCGGTGCCAGGT	0.582000														280			19		0	0	1	0	0
GABRB1	2560	broad.mit.edu	37	4	47427823	47427823	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:47427823C>T	uc003gxh.3	+	8	1587	c.1213C>T	c.(1213-1215)Cgc>Tgc	p.R405C	GABRB1_uc011bze.2_Missense_Mutation_p.R335C	NM_000812	NP_000803	P18505	GBRB1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 1 (GABRB1), mRNA.	405					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity	p.R405L(1)|p.R405H(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	CATCCAGTACCGCAAGCCCCT	0.662000														52			5		0	0	1	0	0
EXOC7	23265	broad.mit.edu	37	17	74079743	74079743	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:74079743C>T	uc002jqs.3	-	19	2289	c.2194G>A	c.(2194-2196)Gac>Aac	p.D732N	EXOC7_uc002jqp.2_3'UTR|EXOC7_uc010dgv.2_Missense_Mutation_p.D606N|EXOC7_uc010wsv.2_Missense_Mutation_p.D653N|EXOC7_uc010wsw.2_Missense_Mutation_p.D704N|EXOC7_uc002jqq.3_Missense_Mutation_p.D681N|EXOC7_uc010wsx.2_Missense_Mutation_p.D673N|EXOC7_uc002jqr.3_Missense_Mutation_p.D650N	NM_001145297	NP_001138769	Q9UPT5	EXOC7_HUMAN	Homo sapiens exocyst complex component 7 (EXOC7), transcript variant 4, mRNA.	732					exocytosis|protein transport	centriolar satellite|cytosol|exocyst|plasma membrane	protein binding			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	14			LUSC - Lung squamous cell carcinoma(166;0.187)			GCAGAGGTGTCGAAAAGGCGA	0.582000														44			32		0	0	1	0	0
ABHD15	116236	broad.mit.edu	37	17	27893163	27893163	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:27893163G>A	uc002hed.2	-	0	880	c.822C>T	c.(820-822)gcC>gcT	p.A274A	TP53I13_uc002hee.3_5'Flank	NM_198147	NP_937790	Q6UXT9	ABH15_HUMAN	Homo sapiens abhydrolase domain containing 15 (ABHD15), mRNA.	274						extracellular region	carboxylesterase activity			breast(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	10						AGGGCAGGCCGGCCTCGAACC	0.667000														18			7		0	0	1	0	0
TMEM176B	28959	broad.mit.edu	37	7	150490279	150490279	+	Missense_Mutation	SNP	C	T	T	rs144557912		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:150490279C>T	uc022apx.1	-	3	623	c.497G>A	c.(496-498)cGc>cAc	p.R166H	TMEM176B_uc003whu.4_Missense_Mutation_p.R166H|TMEM176B_uc003whv.4_Missense_Mutation_p.R129H|TMEM176B_uc003whw.4_Missense_Mutation_p.R166H	NM_014020	NP_054739	Q3YBM2	T176B_HUMAN	Homo sapiens transmembrane protein 176B (TMEM176B), transcript variant 1, mRNA.	166					cell differentiation|organ morphogenesis	integral to membrane|nuclear membrane				cervix(1)|large_intestine(4)|lung(10)|ovary(1)|skin(3)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGGGTCTGAGCGATCACACAC	0.507000														41			46		0	0	1	0	0
CYP26B1	56603	broad.mit.edu	37	2	72360435	72360435	+	Splice_Site	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:72360435T>C	uc002sih.1	-	5	862	c.862_splice	c.e5-1	p.D288_splice	CYP26B1_uc010yra.1_Splice_Site_p.D271_splice|CYP26B1_uc010yrb.1_Splice_Site_p.D213_splice	NM_019885	NP_063938	Q9NR63	CP26B_HUMAN	Homo sapiens cytochrome P450, family 26, subfamily B, polypeptide 1 (CYP26B1), mRNA.	288					cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						CAGGGTCCCGTCCTGCAGGGC	0.637000														7			6		0	0	1	0	0
ZNF642	339559	broad.mit.edu	37	1	40954849	40954849	+	Missense_Mutation	SNP	G	T	T	rs116054135	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:40954849G>T	uc010ojk.2	+	3	603	c.309G>T	c.(307-309)gaG>gaT	p.E103D	ZNF642_uc001cfo.3_Missense_Mutation_p.E103D|ZNF642_uc009vwb.3_Missense_Mutation_p.E103D	NM_198494	NP_940896	Q49AA0	ZN642_HUMAN	Homo sapiens zinc finger protein 642 (ZNF642), mRNA.	103	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)	13	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;8.81e-19)			TATACCGAGAGGTGATGCTGG	0.458000														53			8		5.4927e-09	6.49148e-09	1	1	0
TOP3A	7156	broad.mit.edu	37	17	18194249	18194249	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:18194249G>A	uc002gsx.1	-	11	1603	c.1374C>T	c.(1372-1374)atC>atT	p.I458I	TOP3A_uc010cpz.1_5'UTR|TOP3A_uc010vxr.1_5'UTR|TOP3A_uc002gsw.1_Intron|TOP3A_uc010vxs.1_Silent_p.I356I	NM_004618	NP_004609	Q13472	TOP3A_HUMAN	Homo sapiens topoisomerase (DNA) III alpha (TOP3A), mRNA.	458					DNA topological change|meiosis	PML body|chromosome	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						GAGCGATGTCGATCTCCACTG	0.512000														32			21		0	0	1	0	0
CATSPER1	117144	broad.mit.edu	37	11	65787651	65787651	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:65787651C>A	uc001ogt.3	-	8	2223	c.2085G>T	c.(2083-2085)gaG>gaT	p.E695D		NM_053054	NP_444282	Q8NEC5	CTSR1_HUMAN	Homo sapiens cation channel, sperm associated 1 (CATSPER1), mRNA.	695					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						CCAGCAGCTTCTCTTGGATCC	0.667000														47			19		9.7654e-05	0.000106285	1	1	0
HCN4	10021	broad.mit.edu	37	15	73616290	73616290	+	Splice_Site	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:73616290C>T	uc002avp.3	-	8	3138	c.2144_splice	c.e8-1	p.G715_splice		NM_005477	NP_005468	Q9Y3Q4	HCN4_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 4 (HCN4), mRNA.	715					blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		GTTCTTCTTGCCTGGGCCACA	0.562000														33			15		0	0	1	0	0
GABRB1	2560	broad.mit.edu	37	4	47427785	47427785	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:47427785C>T	uc003gxh.3	+	8	1549	c.1175C>T	c.(1174-1176)gCc>gTc	p.A392V	GABRB1_uc011bze.2_Missense_Mutation_p.A322V	NM_000812	NP_000803	P18505	GBRB1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 1 (GABRB1), mRNA.	392					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	GACCCCAAGGCCACCATGTAC	0.647000														28			31		0	0	1	0	0
PRDM10	56980	broad.mit.edu	37	11	129800970	129800970	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:129800970C>T	uc001qfm.3	-	10	1703	c.1471G>A	c.(1471-1473)Gtg>Atg	p.V491M	PRDM10_uc001qfj.3_Missense_Mutation_p.V405M|PRDM10_uc001qfk.3_Missense_Mutation_p.V405M|PRDM10_uc001qfl.3_Missense_Mutation_p.V405M|PRDM10_uc010sbx.2_Missense_Mutation_p.V405M|PRDM10_uc001qfn.3_Missense_Mutation_p.V491M|PRDM10_uc009zct.1_Missense_Mutation_p.V523M	NM_020228	NP_064613	Q9NQV6	PRD10_HUMAN	Homo sapiens PR domain containing 10 (PRDM10), transcript variant 1, mRNA.	491					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		GTGGGCACCACGCTCTCTTCA	0.617000														43			27		0	0	1	0	0
GCN1L1	10985	broad.mit.edu	37	12	120567270	120567270	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:120567270C>A	uc001txo.3	-	56	7713	c.7700G>T	c.(7699-7701)aGg>aTg	p.R2567M		NM_006836	NP_006827	Q92616	GCN1L_HUMAN	Homo sapiens GCN1 general control of amino-acid synthesis 1-like 1 (yeast) (GCN1L1), mRNA.	2567					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AGCCACCAGCCTGATGTCGCT	0.527000														151			11		3.07112e-06	3.45634e-06	1	1	0
ACAD10	80724	broad.mit.edu	37	12	112174796	112174796	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:112174796C>T	uc009zvx.3	+	12	1995	c.1795C>T	c.(1795-1797)Cga>Tga	p.R599*	ACAD10_uc001tsp.3_Nonsense_Mutation_p.R568*|ACAD10_uc001tsq.3_Nonsense_Mutation_p.R568*|ACAD10_uc001tss.1_Non-coding_Transcript	NM_001136538	NP_001130010	Q6JQN1	ACD10_HUMAN	Homo sapiens acyl-CoA dehydrogenase family, member 10 (ACAD10), transcript variant 1, mRNA.	568							acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						AGTCTACAAGCGATCACTCAC	0.552000														37			20		0	0	1	0	0
MCOLN1	57192	broad.mit.edu	37	19	7595356	7595356	+	Missense_Mutation	SNP	C	T	T	rs151300825		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:7595356C>T	uc002mgo.3	+	11	1685	c.1544C>T	c.(1543-1545)gCg>gTg	p.A515V	MCOLN1_uc002mgp.3_Missense_Mutation_p.A480V	NM_020533	NP_065394	Q9GZU1	MCLN1_HUMAN	Homo sapiens mucolipin 1 (MCOLN1), mRNA.	515					calcium ion transport|cellular iron ion homeostasis|transferrin transport	integral to plasma membrane|late endosome membrane|lysosomal membrane	cation channel activity|iron ion transmembrane transporter activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CTCTTCATCGCGCTCATCACC	0.622000														89			67		0	0	1	0	0
CERS4	79603	broad.mit.edu	37	19	8326599	8326599	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:8326599C>T	uc002mjg.3	+	10	1196	c.876C>T	c.(874-876)tcC>tcT	p.S292S	CERS4_uc002mji.3_Silent_p.S128S|CERS4_uc010dvz.3_Intron	NM_024552	NP_078828	Q9HA82	CERS4_HUMAN	Homo sapiens ceramide synthase 4 (CERS4), mRNA.	292	TLC.					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity										ACTACGAGTCCATCAGCAACA	0.557000														58			21		0	0	1	0	0
TCTN2	79867	broad.mit.edu	37	12	124171495	124171495	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:124171495G>A	uc001ufp.3	+	5	805	c.677G>A	c.(676-678)cGt>cAt	p.R226H	TCTN2_uc009zya.3_Missense_Mutation_p.R225H	NM_024809	NP_079085	Q96GX1	TECT2_HUMAN	Homo sapiens tectonic family member 2 (TCTN2), transcript variant 1, mRNA.	226					cilium assembly|smoothened signaling pathway	integral to membrane				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)		ACGACGACACGTGGTGTCCCC	0.527000														136			87		0	0	1	0	0
RIMBP2	23504	broad.mit.edu	37	12	130912849	130912849	+	Nonsense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:130912849C>A	uc001uil.2	-	11	2452	c.2236G>T	c.(2236-2238)Gag>Tag	p.E746*		NM_015347	NP_056162	O15034	RIMB2_HUMAN	Homo sapiens RIMS binding protein 2 (RIMBP2), mRNA.	746						cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		CGGCTGCTCTCTGTGTGGTAC	0.602000														29			13		9.31168e-06	1.03939e-05	1	1	0
FAM75C2	645961	broad.mit.edu	37	9	90744692	90744692	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:90744692G>A	uc011lti.2	-	3	3289	c.3260C>T	c.(3259-3261)gCc>gTc	p.A1087V	DQ587746_uc004apx.1_5'Flank	NM_001166137	NP_001159609	B4DYI2	B4DYI2_HUMAN	Homo sapiens family with sequence similarity 75, member C2 (FAM75C2), mRNA.	1087																	ACAGACTGGGGCTTGAAACTG	0.522000														50			37		0	0	1	0	0
CYLD	1540	broad.mit.edu	37	16	50828334	50828334	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:50828334G>A	uc021tib.1	+	15	2804	c.2681G>A	c.(2680-2682)cGg>cAg	p.R894Q	CYLD_uc010cbs.1_Missense_Mutation_p.R891Q|CYLD_uc002egp.1_Missense_Mutation_p.R891Q|CYLD_uc002egq.1_Missense_Mutation_p.R891Q|CYLD_uc002egr.1_Missense_Mutation_p.R891Q	NM_015247	NP_056062	Q9NQC7	CYLD_HUMAN	Homo sapiens cylindromatosis (turban tumor syndrome) (CYLD), transcript variant 1, mRNA.	894					Wnt receptor signaling pathway|cell cycle|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process	cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome	proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	p.D893N(1)		central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62		all_cancers(37;0.0156)				ATGGCCGATCGGGATGGTACT	0.463000			"""Mis, N, F, S"""		cylindroma	cylindroma			Multiple Trichoepithelioma, Familial;Familial Cylindromatosis					75			44		0	0	1	0	0
KLHL36	79786	broad.mit.edu	37	16	84695193	84695193	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:84695193C>T	uc002fig.3	+	4	1446	c.1305C>T	c.(1303-1305)taC>taT	p.Y435Y	KLHL36_uc010chl.3_Silent_p.Y371Y|AK057887_uc002fih.3_5'Flank	NM_024731	NP_079007	Q8N4N3	KLH36_HUMAN	Homo sapiens kelch-like 36 (Drosophila) (KLHL36), mRNA.	435										endometrium(3)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						GGTTCACGTACGGCCACGCGG	0.622000														70			8		0	0	1	0	0
TAX1BP1	8887	broad.mit.edu	37	7	27831736	27831736	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:27831736C>T	uc003szl.3	+	8	1332	c.1150C>T	c.(1150-1152)Cga>Tga	p.R384*	TAX1BP1_uc011jzo.2_Nonsense_Mutation_p.R384*|TAX1BP1_uc003szk.3_Nonsense_Mutation_p.R384*|TAX1BP1_uc011jzp.2_Nonsense_Mutation_p.R227*	NM_006024	NP_006015	Q86VP1	TAXB1_HUMAN	Homo sapiens Tax1 (human T-cell leukemia virus type I) binding protein 1 (TAX1BP1), transcript variant 1, mRNA.	384	Oligomerization.				anti-apoptosis|apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production	cytosol	identical protein binding|kinase binding|zinc ion binding	p.V383L(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(8)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31			GBM - Glioblastoma multiforme(3;0.0823)			TGTCAACGTACGAGACAGAAC	0.438000														95			6		0	0	1	0	0
SEMA5B	54437	broad.mit.edu	37	3	122641112	122641112	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:122641112G>T	uc003efz.1	-	10	1759	c.1455C>A	c.(1453-1455)ctC>ctA	p.L485L	SEMA5B_uc011bju.1_Silent_p.L427L|SEMA5B_uc003ega.1_Non-coding_Transcript|SEMA5B_uc003egb.1_Silent_p.L485L|SEMA5B_uc010hro.1_Silent_p.L427L|SEMA5B_uc010hrp.1_Non-coding_Transcript	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN	Homo sapiens sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B (SEMA5B), transcript variant 1, mRNA.	485	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		GTACATGGTAGAGCGTGTCTT	0.667000														14			3		0.004672	0.00486265	1	1	0
TBC1D15	64786	broad.mit.edu	37	12	72265893	72265893	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:72265893G>T	uc001swu.3	+	1	149	c.74G>T	c.(73-75)gGa>gTa	p.G25V	TBC1D15_uc009zrv.2_5'UTR|TBC1D15_uc001sww.3_5'UTR|TBC1D15_uc010stt.2_Missense_Mutation_p.G33V|TBC1D15_uc001swv.3_Missense_Mutation_p.G25V	NM_022771	NP_073608	Q8TC07	TBC15_HUMAN	Homo sapiens TBC1 domain family, member 15 (TBC1D15), transcript variant 1, mRNA.	25							Rab GTPase activator activity|protein binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TCATCTTGTGGAAAGACCAAT	0.274000														72			7		0.000157383	0.000170012	1	1	0
ITIH5	80760	broad.mit.edu	37	10	7621856	7621856	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:7621856G>A	uc021pmv.1	-	8	1386	c.1280C>T	c.(1279-1281)gCc>gTc	p.A427V	ITIH5_uc021pmu.1_Missense_Mutation_p.A213V|ITIH5_uc001ijr.2_Missense_Mutation_p.A427V	NM_030569	NP_085046	Q86UX2	ITIH5_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 5 (ITIH5), transcript variant 1, mRNA.	427	VWFA.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	p.A427S(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						TTGGCCTCGGGCGGCCTCTCG	0.622000														27			17		0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	215956253	215956253	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:215956253G>A	uc001hku.1	-	52	10799	c.10412C>T	c.(10411-10413)aCa>aTa	p.T3471I		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	3471	Fibronectin type-III 19.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GTACTCATATGTCATGTAGGG	0.408000										HNSCC(13;0.011)				28			24		0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135405040	135405040	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:135405040C>T	uc004ezu.1	+	4	465	c.174C>T	c.(172-174)tgC>tgT	p.C58C	GPR112_uc010nsb.1_Intron	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	58					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.A57E(1)|p.A57T(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TCACAGCATGCATTGATCTGG	0.418000														126			9		0	0	1	0	0
MSL3P1	151507	broad.mit.edu	37	2	234775381	234775381	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:234775381G>A	uc010znf.2	-	1	699	c.461C>T	c.(460-462)cCg>cTg	p.P154L						Homo sapiens male-specific lethal 3 homolog (Drosophila) pseudogene 1 (MSL3P1), non-coding RNA.																		TGTAGACTGCGGCCTGGATGG	0.537000														9			6		0	0	1	0	0
MKL2	57496	broad.mit.edu	37	16	14341010	14341010	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:14341010C>T	uc010uza.2	+	11	2048	c.1893C>T	c.(1891-1893)caC>caT	p.H631H	MKL2_uc002dcg.3_Silent_p.H631H|MKL2_uc002dcj.3_5'Flank	NM_014048	NP_054767	Q9ULH7	MKL2_HUMAN	Homo sapiens MKL/myocardin-like 2 (MKL2), mRNA.	620					cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						ATCAGAAGCACGGCAGCCTTG	0.602000														28			15		0	0	1	0	0
EIF4A3	9775	broad.mit.edu	37	17	78109893	78109893	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:78109893C>T	uc010wuc.2	-	11	1202	c.1129G>A	c.(1129-1131)Gcc>Acc	p.A377T	EIF4A3_uc002jxs.3_Missense_Mutation_p.A377T	NM_014740	NP_055555	P38919	IF4A3_HUMAN	Homo sapiens eukaryotic translation initiation factor 4A3 (EIF4A3), mRNA.	377	Helicase C-terminal.				mRNA transport|negative regulation of translation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|rRNA processing	catalytic step 2 spliceosome|cytoplasm|exon-exon junction complex|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|poly(A) RNA binding|protein binding	p.A377P(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	10	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)			AAGTTAATGGCCACACCCTTC	0.393000														42			33		0	0	1	0	0
CORO6	84940	broad.mit.edu	37	17	27946150	27946150	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:27946150G>A	uc002hel.2	-	2	381	c.379C>T	c.(379-381)Ctt>Ttt	p.L127F	CORO6_uc002hem.3_5'Flank|CORO6_uc002hen.3_5'Flank	NM_032854	NP_116243	Q6QEF8	CORO6_HUMAN	Homo sapiens coronin 6 (CORO6), mRNA.	127					actin cytoskeleton organization	actin cytoskeleton	actin filament binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(2)	14						TGGCCCTCAAGTGTGATGATA	0.567000														13			6		0	0	1	0	0
SEMA3D	223117	broad.mit.edu	37	7	84666263	84666263	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:84666263C>T	uc003uic.3	-	9	1173	c.1133G>A	c.(1132-1134)aGt>aAt	p.S378N	SEMA3D_uc010led.3_Missense_Mutation_p.S378N|SEMA3D_uc003uib.3_Missense_Mutation_p.S17N	NM_152754	NP_689967	O95025	SEM3D_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D (SEMA3D), mRNA.	378	Sema.				cell differentiation|nervous system development	extracellular region|membrane	receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						ATGGTCTGCACTTTCCTTATG	0.403000														116			11		0	0	1	0	0
P2RY8	286530	broad.mit.edu	37	X	1584701	1584701	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:1584701C>T	uc022brv.1	-	0	751	c.751G>A	c.(751-753)Gcc>Acc	p.A251T	CRLF2_uc022brt.1_Intron|P2RY8_uc004cpz.2_Missense_Mutation_p.A251T	NM_178129	NP_835230	Q86VZ1	P2RY8_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 8 (P2RY8), mRNA.	251						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TTGTTGGGGGCGAAGCAGGTG	0.657000			T	CRLF2	"""B-ALL, Downs associated ALL"""									27			11		0	0	1	0	0
SPDYE1	285955	broad.mit.edu	37	7	44044819	44044819	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:44044819C>T	uc003tjf.3	+	3	761	c.625C>T	c.(625-627)Ctg>Ttg	p.L209L	POLR2J4_uc003tjc.2_Intron|POLR2J4_uc003tjd.3_Intron|POLR2J4_uc010kxw.2_Intron|POLR2J4_uc003tje.4_Intron|AX747182_uc003tjg.1_Non-coding_Transcript	NM_175064	NP_778234	Q8NFV5	SPDE1_HUMAN	Homo sapiens speedy homolog E1 (Xenopus laevis) (SPDYE1), mRNA.	209										endometrium(1)|kidney(4)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	11						TCATTTCTTCCTGGCTCTGTG	0.507000														212			80		0	0	1	0	0
FDXACB1	91893	broad.mit.edu	37	11	111746477	111746477	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:111746477T>C	uc001pmc.4	-	4	1369	c.1044A>G	c.(1042-1044)agA>agG	p.R348R	ALG9_uc010rwo.2_Intron|FDXACB1_uc009yyi.3_Silent_p.R199R	NM_138378	NP_612387	Q9BRP7	FDXA1_HUMAN	Homo sapiens ferredoxin-fold anticodon binding domain containing 1 (FDXACB1), transcript variant 1, mRNA.	348					phenylalanyl-tRNA aminoacylation|tRNA processing		ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(3)	19						GGAGAGAAGGTCTAAGGCAGA	0.473000														50			52		0	0	1	0	0
ROBO2	6092	broad.mit.edu	37	3	77147402	77147402	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:77147402G>T	uc011bgk.2	+	1	942	c.299G>T	c.(298-300)aGg>aTg	p.R100M	ROBO2_uc021xat.1_Missense_Mutation_p.R116M|ROBO2_uc003dpy.4_Missense_Mutation_p.R100M|ROBO2_uc003dpz.3_Missense_Mutation_p.R100M|ROBO2_uc011bgj.2_Non-coding_Transcript	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 2 (Drosophila) (ROBO2), transcript variant 2, mRNA.	100	Ig-like C2-type 1.				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		CACGGGCGCAGGAGTAAACCT	0.537000														34			7		0.000157383	0.000170012	1	1	0
METTL2B	55798	broad.mit.edu	37	7	128119311	128119311	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:128119311C>A	uc003vnf.3	+	2	339	c.302C>A	c.(301-303)cCt>cAt	p.P101H	METTL2B_uc003vng.3_Missense_Mutation_p.P36H|METTL2B_uc011kop.2_5'UTR	NM_018396	NP_060866	Q6P1Q9	MTL2B_HUMAN	Homo sapiens methyltransferase like 2B (METTL2B), mRNA.	101							methyltransferase activity	p.F100L(1)		breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						ACCGAATTCCCTGAGCTGGCA	0.393000														80			9		7.48243e-07	8.52591e-07	1	1	0
CTNNAL1	8727	broad.mit.edu	37	9	111732743	111732743	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:111732743G>A	uc004bdo.1	-	9	1421	c.1379C>T	c.(1378-1380)aCa>aTa	p.T460I	CTNNAL1_uc010mts.1_Intron|CTNNAL1_uc004bdp.1_Missense_Mutation_p.T460I	NM_003798	NP_003789	Q9UBT7	CTNL1_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha-like 1 (CTNNAL1), mRNA.	460					Rho protein signal transduction|cell adhesion	actin cytoskeleton|cytosol|plasma membrane	cadherin binding|structural molecule activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2)	25				STAD - Stomach adenocarcinoma(157;0.0768)		CAGAGGTTCTGTCCCAGATAT	0.398000														29			6		0	0	1	0	0
RGS12	6002	broad.mit.edu	37	4	3419179	3419179	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:3419179A>G	uc003ggw.3	+	8	3576	c.2672A>G	c.(2671-2673)aAg>aGg	p.K891R	RGS12_uc010ics.1_Missense_Mutation_p.K90R|RGS12_uc003ggv.3_Missense_Mutation_p.K891R|RGS12_uc003ggy.1_Missense_Mutation_p.K289R|RGS12_uc010ict.1_Missense_Mutation_p.K243R|RGS12_uc003ggz.3_Missense_Mutation_p.K243R|RGS12_uc010icu.1_Missense_Mutation_p.K90R|RGS12_uc011bvs.2_Missense_Mutation_p.K233R|RGS12_uc003gha.3_Missense_Mutation_p.K233R|RGS12_uc010icv.3_Missense_Mutation_p.K90R|RGS12_uc003ghb.2_Missense_Mutation_p.K90R	NM_198229	NP_937872	O14924	RGS12_HUMAN	Homo sapiens regulator of G-protein signaling 12 (RGS12), transcript variant 1, mRNA.	891						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GACAGCGAGAAGAAGCGGAAA	0.537000														48			5		0	0	1	0	0
NUCB1	4924	broad.mit.edu	37	19	49422352	49422352	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:49422352G>A	uc002plb.4	+	8	1216	c.882G>A	c.(880-882)ctG>ctA	p.L294L	NUCB1_uc002pla.3_Silent_p.L294L|Mir_324_uc021uxc.1_5'Flank|NUCB1_uc002pld.3_5'UTR	NM_006184	NP_006175	Q02818	NUCB1_HUMAN	Homo sapiens nucleobindin 1 (NUCB1), mRNA.	294	Binds to GNAI2 and GNAI3 (By similarity).|EF-hand 2.					ER-Golgi intermediate compartment|Golgi apparatus|extracellular space|membrane|microtubule cytoskeleton	DNA binding|calcium ion binding			cervix(1)|endometrium(4)|large_intestine(4)|lung(8)	17		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000171)|all cancers(93;0.000333)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0244)		AGGAGCGACTGCGCATGCGGG	0.607000														23			8		0	0	1	0	0
ZNF14	7561	broad.mit.edu	37	19	19822991	19822991	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:19822991G>A	uc002nnk.1	-	3	1253	c.1099C>T	c.(1099-1101)Cga>Tga	p.R367*		NM_021030	NP_066358	P17017	ZNF14_HUMAN	Homo sapiens zinc finger protein 14 (ZNF14), mRNA.	367					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(2)|endometrium(1)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32		Renal(1328;0.0474)				TTGCCACATCGTTTACATTCA	0.363000														48			27		0	0	1	0	0
GLI1	2735	broad.mit.edu	37	12	57861780	57861780	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57861780C>T	uc001snx.3	+	9	1175	c.1081C>T	c.(1081-1083)Ccg>Tcg	p.P361S	GLI1_uc021qzi.1_Missense_Mutation_p.P320S|GLI1_uc009zpq.3_Missense_Mutation_p.P233S	NM_005269	NP_001153517	P08151	GLI1_HUMAN	Homo sapiens GLI family zinc finger 1 (GLI1), transcript variant 1, mRNA.	361					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			TCAACAGAAGCCGTATGTATG	0.517000														21			9		0	0	1	0	0
THOC2	57187	broad.mit.edu	37	X	122837343	122837343	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:122837343C>T	uc004etu.3	-	3	267	c.235G>A	c.(235-237)Gat>Aat	p.D79N	THOC2_uc011muh.1_5'UTR|THOC2_uc011mui.1_5'UTR	NM_001081550	NP_001075019	Q8NI27	THOC2_HUMAN	Homo sapiens THO complex 2 (THOC2), mRNA.	79					RNA splicing|intronless viral mRNA export from host nucleus|mRNA processing	THO complex part of transcription export complex	RNA binding|protein binding			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						GAGGGCATATCCTCACGAAAT	0.313000														42			19		0	0	1	0	0
CADM1	23705	broad.mit.edu	37	11	115080356	115080356	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:115080356G>T	uc001ppi.4	-	7	1145	c.1016C>A	c.(1015-1017)cCt>cAt	p.P339H	CADM1_uc001ppf.4_Intron|CADM1_uc001ppk.4_Intron|CADM1_uc001ppj.4_Intron|CADM1_uc001pph.4_Missense_Mutation_p.P91H	NM_014333	NP_055148	Q9BY67	CADM1_HUMAN	Homo sapiens cell adhesion molecule 1 (CADM1), transcript variant 1, mRNA.	339				PPTTIPPPTTTTTTTTTTTTTILTIIT -> TTATTEPAVH GLTQLPNSAEELDSEDLS (in Ref. 3; BAC11657).	adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding			cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		tgttgtggGAGGAGGGATAGT	0.443000														50			7		0.00198382	0.00208369	1	1	0
ISPD	729920	broad.mit.edu	37	7	16131379	16131379	+	Missense_Mutation	SNP	T	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:16131379T>A	uc010ktx.2	-	9	1297	c.1297A>T	c.(1297-1299)Att>Ttt	p.I433F	ISPD_uc010kty.2_Missense_Mutation_p.I383F	NM_001101426	NP_001094896	A4D126	ISPD_HUMAN	Homo sapiens isoprenoid synthase domain containing (ISPD), transcript variant 1, mRNA.	433					isoprenoid biosynthetic process		nucleotidyltransferase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)	9						AATGAAGCAATAATGATAGCA	0.328000										Multiple Myeloma(15;0.18)				0			5		0	0	1	0	0
OSMR	9180	broad.mit.edu	37	5	38925354	38925354	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:38925354C>T	uc003jln.2	+	14	2495	c.2093C>T	c.(2092-2094)gCa>gTa	p.A698V	OSMR_uc011cpj.2_5'UTR	NM_003999	NP_003990	Q99650	OSMR_HUMAN	Homo sapiens oncostatin M receptor (OSMR), transcript variant 1, mRNA.	698	Fibronectin type-III 4.				cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					GAAGAAAAGGCATTGATTGTG	0.368000														59			37		0	0	1	0	0
WNK3	65267	broad.mit.edu	37	X	54319604	54319604	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:54319604G>A	uc004dtc.2	-	8	2289	c.1850C>T	c.(1849-1851)tCt>tTt	p.S617F	WNK3_uc004dtd.2_Missense_Mutation_p.S617F	NM_020922	NP_065973	Q9BYP7	WNK3_HUMAN	Homo sapiens WNK lysine deficient protein kinase 3 (WNK3), transcript variant 1, mRNA.	617					intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						TAGTTGCTGAGATGAATAAAT	0.383000														16			6		0	0	1	0	0
MYH7B	57644	broad.mit.edu	37	20	33575077	33575077	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:33575077C>T	uc002xbi.2	+	15	1577	c.1260C>T	c.(1258-1260)gcC>gcT	p.A420A		NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	Homo sapiens myosin, heavy chain 7B, cardiac muscle, beta (MYH7B), mRNA.	378	Myosin head-like.					membrane|myosin filament	ATP binding|actin binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			AGGCGGAGGCCGATGGCACTG	0.562000														59			44		0	0	1	0	0
SEMA7A	8482	broad.mit.edu	37	15	74708206	74708206	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:74708206G>T	uc002axv.3	-	7	962	c.922C>A	c.(922-924)Ctg>Atg	p.L308M	SEMA7A_uc010ulk.2_Missense_Mutation_p.L143M|SEMA7A_uc010ull.2_Missense_Mutation_p.L294M	NM_003612	NP_001139502	O75326	SEM7A_HUMAN	Homo sapiens semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group) (SEMA7A), transcript variant 1, mRNA.	308	Sema.				axon guidance|immune response|inflammatory response|integrin-mediated signaling pathway|positive regulation of ERK1 and ERK2 cascade|positive regulation of axon extension|positive regulation of macrophage cytokine production|regulation of inflammatory response	anchored to membrane|external side of plasma membrane	receptor activity			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	30						TCAGGGAGCAGGAAGACGTCT	0.567000														25			14		6.72482e-11	8.1643e-11	1	1	0
CELSR2	1952	broad.mit.edu	37	1	109795676	109795676	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:109795676A>G	uc001dxa.4	+	0	3036	c.2975A>G	c.(2974-2976)tAc>tGc	p.Y992C		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 2 (flamingo homolog, Drosophila) (CELSR2), mRNA.	992	Cadherin 8.				Wnt receptor signaling pathway|dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent	cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CGGCCTGAGTACGTCCTGGTC	0.602000														59			22		0	0	1	0	0
GRHL2	79977	broad.mit.edu	37	8	102661726	102661726	+	Splice_Site	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:102661726C>A	uc010mbu.3	+	14	2028	c.1698_splice	c.e14+1	p.A566_splice		NM_024915	NP_079191	Q6ISB3	GRHL2_HUMAN	Homo sapiens grainyhead-like 2 (Drosophila) (GRHL2), mRNA.	566						cytoplasm|nucleus	DNA binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			CTGATGGAAGCGGTAAGCCAT	0.507000														16			10		2.17888e-05	2.40634e-05	1	1	0
HCCS	3052	broad.mit.edu	37	X	11135463	11135463	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:11135463C>T	uc004cul.2	+	3	509	c.329C>T	c.(328-330)cCg>cTg	p.P110L	HCCS_uc004cuk.3_Missense_Mutation_p.P110L|HCCS_uc004cuj.3_Missense_Mutation_p.P110L	NM_001171991	NP_005324	P53701	CCHL_HUMAN	Homo sapiens holocytochrome c synthase (HCCS), transcript variant 3, mRNA.	110					organ morphogenesis|oxidation-reduction process	mitochondrial inner membrane	holocytochrome-c synthase activity|metal ion binding			kidney(1)|large_intestine(3)|lung(3)	7						TCATCCATTCCGAGAGCAGAT	0.388000														84			65		0	0	1	0	0
ICAM1	3383	broad.mit.edu	37	19	10395205	10395205	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10395205G>A	uc002mnq.2	+	4	1371	c.1052G>A	c.(1051-1053)gGc>gAc	p.G351D	ICAM1_uc010xle.1_Missense_Mutation_p.G129D|ICAM4_uc002mnr.2_5'Flank|ICAM4_uc002mns.2_5'Flank|ICAM4_uc002mnt.2_5'Flank	NM_000201	NP_000192	P05362	ICAM1_HUMAN	Homo sapiens intercellular adhesion molecule 1 (ICAM1), mRNA.	351	Ig-like C2-type 4.				T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|adhesion to symbiont|heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking|positive regulation of cellular extravasation|regulation of immune response|regulation of leukocyte mediated cytotoxicity|virion attachment, binding of host cell surface receptor	extracellular space|integral to plasma membrane	integrin binding|transmembrane receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		Natalizumab(DB00108)|Simvastatin(DB00641)	CAGCCACTGGGCCCGAGGGCC	0.637000														42			29		0	0	1	0	0
FRRS1	391059	broad.mit.edu	37	1	100174574	100174574	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:100174574C>T	uc001dsh.1	-	16	2363	c.1761G>A	c.(1759-1761)aaG>aaA	p.K587K		NM_001013660	NP_001013682	Q6ZNA5	FRRS1_HUMAN	Homo sapiens ferric-chelate reductase 1 (FRRS1), mRNA.	0					electron transport chain|transport	integral to membrane	ferric-chelate reductase activity|metal ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	26		all_epithelial(167;2.09e-06)|all_lung(203;0.000435)|Lung NSC(277;0.00201)		Epithelial(280;0.0718)|all cancers(265;0.126)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.206)		AAGCCAAGGTCTTTGCTTGCT	0.383000														38			46		0	0	1	0	0
SGCE	8910	broad.mit.edu	37	7	94259103	94259103	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:94259103C>A	uc011kid.1	-	2	379	c.268G>T	c.(268-270)Gca>Tca	p.A90S	SGCE_uc003unm.2_Missense_Mutation_p.A54S|SGCE_uc003unl.2_Missense_Mutation_p.A54S|SGCE_uc003unn.2_Missense_Mutation_p.A54S|SGCE_uc011kic.1_Intron	NM_003919	NP_003910	O43556	SGCE_HUMAN	Homo sapiens sarcoglycan, epsilon (SGCE), transcript variant 2, mRNA.	54					cell-matrix adhesion|muscle organ development	cytoplasm|cytoskeleton|integral to plasma membrane|sarcoglycan complex|sarcolemma	calcium ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	14	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			AGGACACCTGCTGATGGGTAT	0.378000														93			110		3.24833e-45	4.32348e-45	1	1	0
ZNF547	284306	broad.mit.edu	37	19	57888885	57888885	+	Nonsense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:57888885G>T	uc002qol.3	+	3	746	c.541G>T	c.(541-543)Gaa>Taa	p.E181*		NM_173631	NP_775902	Q8IVP9	ZN547_HUMAN	Homo sapiens zinc finger protein 547 (ZNF547), mRNA.	181					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	12		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CCACACTGGAGAAAGAACTTA	0.428000														33			18		3.32936e-07	3.81974e-07	1	1	0
DMXL2	23312	broad.mit.edu	37	15	51828821	51828821	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:51828821C>T	uc010ufy.2	-	11	2081	c.1856G>A	c.(1855-1857)gGt>gAt	p.G619D	DMXL2_uc002abf.3_Missense_Mutation_p.G619D|DMXL2_uc010bfa.3_Missense_Mutation_p.G619D	NM_001174116	NP_001167587	Q8TDJ6	DMXL2_HUMAN	Homo sapiens Dmx-like 2 (DMXL2), transcript variant 1, mRNA.	619						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		ATTTAAAGAACCATCTATGTG	0.418000														80			6		0	0	1	0	0
GPRIN1	114787	broad.mit.edu	37	5	176026572	176026572	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:176026572T>C	uc003meo.1	-	1	439	c.264A>G	c.(262-264)agA>agG	p.R88R	GPRIN1_uc021yif.1_Silent_p.R88R	NM_052899	NP_443131	Q7Z2K8	GRIN1_HUMAN	Homo sapiens G protein regulated inducer of neurite outgrowth 1 (GPRIN1), mRNA.	88						growth cone|plasma membrane				NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCAGGCTCCCTCTGGGGCCGT	0.657000														55			5		0	0	1	0	0
OCLN	100506658	broad.mit.edu	37	5	68805114	68805114	+	Missense_Mutation	SNP	G	A	A	rs116363086	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:68805114G>A	uc003jwu.3	+	2	633	c.197G>A	c.(196-198)cGg>cAg	p.R66Q	OCLN_uc003jwv.4_Missense_Mutation_p.R66Q|OCLN_uc021xzq.1_Intron|OCLN_uc021xzr.1_Non-coding_Transcript|OCLN_uc021xzs.1_5'UTR|OCLN_uc021xzt.1_Intron	NM_002538	NP_001192184	Q16625	OCLN_HUMAN	Homo sapiens occludin (OCLN), transcript variant 1, mRNA.	66	MARVEL.				cellular component disassembly involved in apoptosis|protein complex assembly	integral to membrane|tight junction	protein binding|structural molecule activity			endometrium(2)|large_intestine(1)|liver(1)|prostate(1)|skin(1)	6		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		GGAGTGATTCGGATCCTGTCT	0.478000														91			62		0	0	1	0	0
EPS15	2060	broad.mit.edu	37	1	51875340	51875340	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:51875340T>C	uc001csq.1	-	13	1234	c.1142A>G	c.(1141-1143)aAt>aGt	p.N381S	EPS15_uc009vyz.1_Missense_Mutation_p.N381S|EPS15_uc001csp.3_Missense_Mutation_p.N67S	NM_001981	NP_001972	P42566	EPS15_HUMAN	Homo sapiens epidermal growth factor receptor pathway substrate 15 (EPS15), transcript variant 1, mRNA.	381					cell proliferation|clathrin coat assembly|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|protein transport	cytosol|early endosome membrane	SH3 domain binding|calcium ion binding	p.0?(2)		endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2)	35						CAGATTAGTATTCTCCCTTTG	0.398000			T	MLL	ALL									60			6		0	0	1	0	0
ARHGEF10L	55160	broad.mit.edu	37	1	18021739	18021739	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:18021739C>T	uc001ban.3	+	27	3430	c.3271C>T	c.(3271-3273)Ccc>Tcc	p.P1091S	ARHGEF10L_uc001bao.3_Missense_Mutation_p.P1052S|ARHGEF10L_uc001bap.3_Missense_Mutation_p.P1047S|ARHGEF10L_uc001baq.3_Missense_Mutation_p.P852S|ARHGEF10L_uc010ocs.2_Missense_Mutation_p.P864S|ARHGEF10L_uc001bar.3_Missense_Mutation_p.P794S|ARHGEF10L_uc009vpf.3_Non-coding_Transcript|ARHGEF10L_uc001bas.3_Missense_Mutation_p.P115S	NM_018125	NP_060595	Q9HCE6	ARGAL_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 10-like (ARHGEF10L), transcript variant 1, mRNA.	1091					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		CGTCCTGCTGCCCGTGCCTCG	0.627000														31			17		0	0	1	0	0
IFNA21	3452	broad.mit.edu	37	9	21166323	21166323	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:21166323A>G	uc003zom.2	-	0	337	c.289T>C	c.(289-291)Tct>Cct	p.S97P		NM_002175	NP_002166	P01568	IFN21_HUMAN	Homo sapiens interferon, alpha 21 (IFNA21), mRNA.	97					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)	14				GBM - Glioblastoma multiforme(5;1.93e-187)|Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		CAAGTAGCAGATGAGTCCTTT	0.498000														114			18		0	0	1	0	0
HEPHL1	341208	broad.mit.edu	37	11	93800872	93800872	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:93800872C>A	uc001pep.2	+	4	1176	c.1019C>A	c.(1018-1020)cCt>cAt	p.P340H	AF086184_uc001pen.1_Non-coding_Transcript	NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN	Homo sapiens hephaestin-like 1 (HEPHL1), mRNA.	340	Plastocyanin-like 2.				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)				GCCGAGAATCCTGGGAAGTGG	0.453000														89			8		1.26484e-09	1.50989e-09	1	1	0
FGD1	2245	broad.mit.edu	37	X	54472773	54472773	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:54472773G>A	uc004dtg.3	-	17	3389	c.2655C>T	c.(2653-2655)gaC>gaT	p.D885D		NM_004463	NP_004454	P98174	FGD1_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 1 (FGD1), mRNA.	885	PH 2.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	Golgi apparatus|cytoskeleton|cytosol|lamellipodium|nucleus|plasma membrane|ruffle	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						CATGCCTTCTGTCAGGCCGCT	0.642000														18			9		0	0	1	0	0
ACAP1	9744	broad.mit.edu	37	17	7252368	7252368	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7252368C>T	uc002ggd.2	+	17	1939	c.1733C>T	c.(1732-1734)gCg>gTg	p.A578V	KCTD11_uc002gge.4_5'Flank	NM_014716	NP_055531	Q15027	ACAP1_HUMAN	Homo sapiens ArfGAP with coiled-coil, ankyrin repeat and PH domains 1 (ACAP1), mRNA.	578	Required for interaction with GULP1.				intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity		ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding	p.R577*(1)|p.R577Q(1)		NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1)	33						CTGTTTCGAGCGTCTGGGCAT	0.602000														43			32		0	0	1	0	0
METTL17	64745	broad.mit.edu	37	14	21463327	21463327	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:21463327C>T	uc001vyo.3	+	9	1077	c.880C>T	c.(880-882)Ctg>Ttg	p.L294L	METTL17_uc001vym.3_Silent_p.L294L|METTL17_uc001vyn.3_Silent_p.L294L	NM_001029991	NP_001025162	Q9H7H0	MET17_HUMAN	Homo sapiens methyltransferase like 17 (METTL17), transcript variant 1, mRNA.	294					translation	mitochondrion|ribosome	copper ion binding|methyltransferase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20						TGAACAGGTACTGGTGGAGAA	0.463000														86			51		0	0	1	0	0
DSG4	147409	broad.mit.edu	37	18	28993015	28993015	+	Silent	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:28993015T>G	uc002kwr.2	+	14	2772	c.2637T>G	c.(2635-2637)gcT>gcG	p.A879A	DSG4_uc002kwq.2_Silent_p.A860A	NM_001134453	NP_001127925	Q86SJ6	DSG4_HUMAN	Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA.	860					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CACACCAGGCTTGTATACCAA	0.388000														111			27		0	0	1	0	0
PFKFB3	5209	broad.mit.edu	37	10	6259132	6259132	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:6259132C>T	uc001ije.3	+	5	860	c.476C>T	c.(475-477)aCa>aTa	p.T159I	PFKFB3_uc001ijd.3_Missense_Mutation_p.T139I|PFKFB3_uc009xii.3_Non-coding_Transcript|PFKFB3_uc010qaw.2_Missense_Mutation_p.T173I|PFKFB3_uc001ijf.3_Missense_Mutation_p.T159I	NM_004566	NP_004557	Q16875	F263_HUMAN	Homo sapiens 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3 (PFKFB3), transcript variant 1, mRNA.	159	6-phosphofructo-2-kinase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|liver(2)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)	22						GACGACCCTACAGTTGTGGCC	0.557000														44			29		0	0	1	0	0
JMY	133746	broad.mit.edu	37	5	78610358	78610358	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:78610358T>C	uc003kfx.4	+	8	2892	c.2343T>C	c.(2341-2343)ccT>ccC	p.P781P	JMY_uc003kfw.1_Silent_p.P427P	NM_152405	NP_689618	Q8N9B5	JMY_HUMAN	Homo sapiens junction mediating and regulatory protein, p53 cofactor (JMY), mRNA.	781	Pro-rich.				'de novo' actin filament nucleation|Arp2/3 complex-mediated actin nucleation|DNA repair|actin polymerization-dependent cell motility|cell cycle arrest|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity	p.P427P(1)|p.P781P(1)		endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		CTGAACTGCCTCCCACTATAT	0.468000														127			9		0	0	1	0	0
PLEKHM2	23207	broad.mit.edu	37	1	16060322	16060322	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:16060322G>A	uc010obo.2	+	19	3180	c.2953G>A	c.(2953-2955)Gcc>Acc	p.A985T	SLC25A34_uc001axb.1_5'Flank	NM_015164	NP_055979	Q8IWE5	PKHM2_HUMAN	Homo sapiens pleckstrin homology domain containing, family M (with RUN domain) member 2 (PLEKHM2), mRNA.	985					Golgi organization	cytoplasm	kinesin binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		GATCCAGGAAGCCTCCAACAA	0.637000														37			20		0	0	1	0	0
DOCK8	81704	broad.mit.edu	37	9	379793	379793	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:379793C>T	uc003zgf.2	+	20	2575	c.2463C>T	c.(2461-2463)ttC>ttT	p.F821F	DOCK8_uc022bcu.1_Silent_p.F753F|DOCK8_uc010mgv.3_Silent_p.F753F|DOCK8_uc010mgu.3_Silent_p.F123F|DOCK8_uc010mgw.2_Silent_p.F123F|DOCK8_uc003zgk.2_Silent_p.F279F|DOCK8_uc022bct.1_Non-coding_Transcript	NM_203447	NP_001180465	Q8NF50	DOCK8_HUMAN	Homo sapiens dedicator of cytokinesis 8 (DOCK8), transcript variant 1, mRNA.	821					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		AGTTTGCCTTCGAGTCCGTGG	0.557000														12			9		0	0	1	0	0
VPS13A	23230	broad.mit.edu	37	9	79952386	79952386	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:79952386T>C	uc004akr.3	+	46	6571	c.6311T>C	c.(6310-6312)aTa>aCa	p.I2104T	VPS13A_uc004akp.4_Missense_Mutation_p.I2104T|VPS13A_uc004akq.4_Missense_Mutation_p.I2104T|VPS13A_uc004aks.3_Missense_Mutation_p.I2065T|VPS13A_uc004akt.3_Missense_Mutation_p.I444T	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog A (S. cerevisiae) (VPS13A), transcript variant A, mRNA.	2104					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TTACCATACATAATGCATTTG	0.348000														58			32		0	0	1	0	0
CHSY3	337876	broad.mit.edu	37	5	129520135	129520135	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:129520135C>T	uc003kvd.3	+	2	1300	c.1300C>T	c.(1300-1302)Ctc>Ttc	p.L434F		NM_175856	NP_787052	Q70JA7	CHSS3_HUMAN	Homo sapiens chondroitin sulfate synthase 3 (CHSY3), mRNA.	434						Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding	p.L434H(1)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		GATGAGCAAGCTCAGTAACAC	0.488000														40			9		0	0	1	0	0
COL18A1	80781	broad.mit.edu	37	21	46900027	46900027	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:46900027G>T	uc002zhi.3	+	9	1916	c.1895G>T	c.(1894-1896)gGg>gTg	p.G632V	COL18A1_uc002zhg.3_Missense_Mutation_p.G452V	NM_030582	NP_085059	P39060	COIA1_HUMAN	Homo sapiens collagen, type XVIII, alpha 1 (COL18A1), transcript variant 1, mRNA.	867	TSP N-terminal.				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		ggaccccaagggcctccaggg	0.647000														15			18		9.16793e-09	1.08001e-08	1	1	0
TDRD6	221400	broad.mit.edu	37	6	46657579	46657579	+	Nonsense_Mutation	SNP	C	T	T	rs141346043		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:46657579C>T	uc003oyj.3	+	0	1968	c.1714C>T	c.(1714-1716)Cga>Tga	p.R572*	TDRD6_uc010jze.3_Nonsense_Mutation_p.R572*	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	Homo sapiens tudor domain containing 6 (TDRD6), transcript variant 1, mRNA.	572	Tudor 3.				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			CTTAGTTGACCGAGGCAATTC	0.443000														97			54		0	0	1	0	0
RBL1	5933	broad.mit.edu	37	20	35672579	35672579	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:35672579T>G	uc002xgi.3	-	12	1759	c.1680A>C	c.(1678-1680)gaA>gaC	p.E560D	RBL1_uc002xgj.1_Missense_Mutation_p.E560D	NM_002895	NP_002886	P28749	RBL1_HUMAN	Homo sapiens retinoblastoma-like 1 (p107) (RBL1), transcript variant 1, mRNA.	560	Domain A.|Pocket; binds T and E1A.				cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding			NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				CCAAAATCTGTTCTTCAATGC	0.483000														38			22		0	0	1	0	0
C17orf75	64149	broad.mit.edu	37	17	30666927	30666927	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:30666927G>A	uc002hhg.3	-	2	322	c.252C>T	c.(250-252)tcC>tcT	p.S84S		NM_022344	NP_071739	Q9HAS0	NJMU_HUMAN	Homo sapiens chromosome 17 open reading frame 75 (C17orf75), mRNA.	84					spermatogenesis					ovary(1)	1		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			GCTCCACTTCGGATGGTAGAT	0.458000														49			28		0	0	1	0	0
EIF4G2	1982	broad.mit.edu	37	11	10820605	10820605	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:10820605T>C	uc001mjb.3	-	20	3126	c.1974A>G	c.(1972-1974)gaA>gaG	p.E658E	EIF4G2_uc009ygf.3_Silent_p.E864E|EIF4G2_uc001mjc.3_Silent_p.E658E|EIF4G2_uc001mjd.3_Silent_p.E826E	NM_001418	NP_001409	P78344	IF4G2_HUMAN	Homo sapiens eukaryotic translation initiation factor 4 gamma, 2 (EIF4G2), transcript variant 1, mRNA.	864	MI.				RNA metabolic process|cell cycle arrest|cell death|regulation of translational initiation	eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		CCAAGAAAGCTTCTTCTTCAA	0.328000														77			62		0	0	1	0	0
ZNF286B	729288	broad.mit.edu	37	17	18566190	18566190	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:18566190C>T	uc010vyd.1	-	4	880	c.629G>A	c.(628-630)aGa>aAa	p.R210K		NM_001145045	NP_001138517	P0CG31	Z286B_HUMAN	Homo sapiens zinc finger protein 286B (ZNF286B), mRNA.	210					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(1)	2						TTTGGGAACTCTGTCTTCAGT	0.353000														51			5		0	0	1	0	0
C9orf86	55684	broad.mit.edu	37	9	139726740	139726740	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:139726740G>A	uc004cjj.1	+	6	1083	c.626G>A	c.(625-627)cGc>cAc	p.R209H	C9orf86_uc004cjm.2_Missense_Mutation_p.R208H|C9orf86_uc004cjh.3_Missense_Mutation_p.R208H|C9orf86_uc004cji.1_Missense_Mutation_p.R208H|C9orf86_uc004cjk.1_Non-coding_Transcript|C9orf86_uc004cjl.1_Non-coding_Transcript|C9orf86_uc010nbs.1_Missense_Mutation_p.R93H|C9orf86_uc004cjn.1_5'Flank	NM_001173988	NP_001167459	Q3YEC7	PARF_HUMAN	Homo sapiens chromosome 9 open reading frame 86 (C9orf86), transcript variant 3, mRNA.	208	Small GTPase-like.				small GTPase mediated signal transduction	cytoplasm|nucleus	GTP binding|protein binding			endometrium(4)|kidney(1)|lung(4)	9	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.61e-05)|Epithelial(140;0.000183)		TCCTACTTCCGCTATGCTGAG	0.493000														49			25		0	0	1	0	0
MAPK3	5595	broad.mit.edu	37	16	30128550	30128550	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:30128550G>A	uc002dws.3	-	5	932	c.832C>T	c.(832-834)Cga>Tga	p.R278*	BOLA2_uc010bzb.1_Intron|MAPK3_uc002dwr.3_Nonsense_Mutation_p.R164*|MAPK3_uc002dwv.4_Intron|MAPK3_uc002dwt.3_Nonsense_Mutation_p.R278*	NM_002746	NP_002737	P27361	MK03_HUMAN	Homo sapiens mitogen-activated protein kinase 3 (MAPK3), transcript variant 1, mRNA.	278	Protein kinase.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Ras protein signal transduction|Toll signaling pathway|activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|cellular response to mechanical stimulus|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|interleukin-1-mediated signaling pathway|interspecies interaction between organisms|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription initiation from RNA polymerase I promoter	cytosol|nucleoplasm	ATP binding|MAP kinase activity|phosphatase binding									Arsenic trioxide(DB01169)|Isoproterenol(DB01064)|Simvastatin(DB00641)|Sulindac(DB00605)	AGGTAGTTTCGGGCCTTCATG	0.517000														43			15		0	0	1	0	0
ALG13	79868	broad.mit.edu	37	X	110970862	110970862	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:110970862G>A	uc011msy.2	+	17	2212	c.2111G>A	c.(2110-2112)cGc>cAc	p.R704H	ALG13_uc011msx.2_Missense_Mutation_p.R600H|ALG13_uc011msz.2_Missense_Mutation_p.R626H|ALG13_uc011mta.2_Missense_Mutation_p.R600H|ALG13_uc011mtb.2_Missense_Mutation_p.R600H	NM_001099922	NP_001093392	Q9NP73	ALG13_HUMAN	Homo sapiens asparagine-linked glycosylation 13 homolog (S. cerevisiae) (ALG13), transcript variant 1, mRNA.	704					dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity|carbohydrate binding			endometrium(2)|lung(10)|skin(1)	13						CGTAGTCACCGCCAGATGAGT	0.348000														17			13		0	0	1	0	0
PNMA3	29944	broad.mit.edu	37	X	152226235	152226235	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:152226235C>T	uc022cho.1	+	0	823	c.823C>T	c.(823-825)Ctc>Ttc	p.L275F	PNMA3_uc004fhc.2_Missense_Mutation_p.L275F|PNMA3_uc004fhd.3_5'Flank	NM_013364	NP_037496	Q9UL41	PNMA3_HUMAN	Homo sapiens paraneoplastic antigen MA3 (PNMA3), mRNA.	275					apoptosis	nucleolus	nucleic acid binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	16	Acute lymphoblastic leukemia(192;6.56e-05)					ggaacccctgctccaaagagc	0.478000														82			49		0	0	1	0	0
CLASP1	23332	broad.mit.edu	37	2	122285375	122285375	+	Splice_Site	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:122285375G>A	uc002tnc.3	-	5	860	c.470_splice	c.e5+1	p.A157_splice	CLASP1_uc010yyy.2_Splice_Site|CLASP1_uc010yyz.2_Splice_Site_p.A157_splice|CLASP1_uc010yza.2_Splice_Site_p.A157_splice|CLASP1_uc021vnl.1_Splice_Site_p.A157_splice|CLASP1_uc010yzc.2_Intron|CLASP1_uc002tng.1_Splice_Site_p.A157_splice	NM_015282	NP_056097	Q7Z460	CLAP1_HUMAN	Homo sapiens cytoplasmic linker associated protein 1 (CLASP1), transcript variant 1, mRNA.	157					G2/M transition of mitotic cell cycle|axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	Golgi apparatus|centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|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)					CCAGACTTACGCATTGAGTGT	0.383000														23			11		0	0	1	0	0
JARID2	3720	broad.mit.edu	37	6	15487706	15487706	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:15487706C>T	uc003nbj.3	+	5	1083	c.839C>T	c.(838-840)gCc>gTc	p.A280V	JARID2_uc011diu.1_Missense_Mutation_p.A144V|JARID2_uc011div.2_Missense_Mutation_p.A108V|JARID2_uc011diw.1_Missense_Mutation_p.A242V	NM_004973	NP_004964	Q92833	JARD2_HUMAN	Homo sapiens jumonji, AT rich interactive domain 2 (JARID2), mRNA.	280					central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding	p.S279S(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				GGTTCCTCGGCCAAGGGGCTT	0.652000														22			15		0	0	1	0	0
ABCC8	6833	broad.mit.edu	37	11	17414591	17414591	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:17414591G>T	uc001mnc.3	-	38	4819	c.4693C>A	c.(4693-4695)Ctg>Atg	p.L1565M		NM_000352	NP_000343	Q09428	ABCC8_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 8 (ABCC8), mRNA.	1565	ABC transporter 2.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	CGGCTGAGCAGCTTCTCTGGC	0.607000														62			10		5.16669e-11	6.28684e-11	1	1	0
C7orf60	154743	broad.mit.edu	37	7	112461820	112461820	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:112461820G>A	uc011kms.1	-	5	1402	c.1275C>T	c.(1273-1275)gaC>gaT	p.D425D	C7orf60_uc003vgo.1_Silent_p.D399D	NM_152556	NP_689769	Q1RMZ1	CG060_HUMAN	Homo sapiens chromosome 7 open reading frame 60 (C7orf60), mRNA.	399										breast(1)|endometrium(2)|lung(7)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	17						GTAATATGGGGTCTTCTAGCT	0.393000														80			89		0	0	1	0	0
ATP10D	57205	broad.mit.edu	37	4	47548743	47548743	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:47548743G>A	uc003gxk.1	+	9	1663	c.1499G>A	c.(1498-1500)aGc>aAc	p.S500N	ATP10D_uc003gxl.1_5'UTR|ATP10D_uc003gxj.3_Missense_Mutation_p.S485N	NM_020453	NP_065186	Q9P241	AT10D_HUMAN	Homo sapiens ATPase, class V, type 10D (ATP10D), mRNA.	500					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.S500G(1)		NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						AGAGCCCCCAGCTGCAGGACA	0.483000														53			39		0	0	1	0	0
SLC9C1	285335	broad.mit.edu	37	3	111870782	111870782	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:111870782C>A	uc003dyu.3	-	27	3668	c.3446G>T	c.(3445-3447)aGg>aTg	p.R1149M	SLC9C1_uc011bhu.2_Missense_Mutation_p.R412M|SLC9C1_uc010hqc.3_Missense_Mutation_p.R1101M	NM_183061	NP_898884	Q4G0N8	S9A10_HUMAN	Homo sapiens solute carrier family 9, member 10 (SLC9A10), mRNA.	1149					cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity										CTGGGGACTCCTGGCAGTGGC	0.527000														37			14		1.99824e-07	2.30332e-07	1	1	0
CIDEC	63924	broad.mit.edu	37	3	9911604	9911604	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:9911604G>T	uc003btp.3	-	4	575	c.555C>A	c.(553-555)tcC>tcA	p.S185S	CIDEC_uc003bto.3_Intron|CIDEC_uc010hcp.3_Intron|CIDEC_uc003btq.3_Silent_p.S172S|CIDEC_uc003btr.3_Silent_p.S98S|CIDEC_uc021wsv.1_Silent_p.S172S|CIDEC_uc021wsw.1_Silent_p.S182S|CIDEC_uc003bts.3_Silent_p.S98S	NM_001199623	NP_001186552	Q96AQ7	CIDEC_HUMAN	Homo sapiens cell death-inducing DFFA-like effector c (CIDEC), transcript variant 1, mRNA.	172					apoptosis|induction of apoptosis	cytosol|focal adhesion|nucleus				breast(2)|central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)|skin(1)	8	Medulloblastoma(99;0.227)					GCAGATCATAGGAAAGGGAGT	0.512000														43			9		0.000274275	0.000294507	1	1	0
CDK17	5128	broad.mit.edu	37	12	96691079	96691079	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:96691079C>T	uc001tep.2	-	8	1474	c.842G>A	c.(841-843)tGt>tAt	p.C281Y	CDK17_uc009ztk.3_Missense_Mutation_p.C281Y|CDK17_uc010svb.2_Missense_Mutation_p.C228Y	NM_002595	NP_002586	Q00537	CDK17_HUMAN	Homo sapiens cyclin-dependent kinase 17 (CDK17), transcript variant 1, mRNA.	281	Protein kinase.						ATP binding|cyclin-dependent protein kinase activity			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(11)|ovary(4)|prostate(2)|skin(1)	37						GATGTTTCCACAGTCATCCAT	0.343000														34			4		0	0	1	0	0
LAMA1	284217	broad.mit.edu	37	18	6961979	6961979	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:6961979T>C	uc002knm.3	-	51	7511	c.7417A>G	c.(7417-7419)Aat>Gat	p.N2473D	LAMA1_uc002knl.3_5'UTR|LAMA1_uc010wzj.2_Missense_Mutation_p.N1949D	NM_005559	NP_005550	P25391	LAMA1_HUMAN	Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	2473	Laminin G-like 2.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CCATAGGAATTTCTGAGTAAG	0.403000														93			30		0	0	1	0	0
ALMS1	7840	broad.mit.edu	37	2	73717968	73717968	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:73717968C>T	uc002sje.1	+	9	8990	c.8879C>T	c.(8878-8880)cCg>cTg	p.P2960L	ALMS1_uc002sjf.1_Missense_Mutation_p.P2918L|ALMS1_uc002sjg.3_Missense_Mutation_p.P2348L|ALMS1_uc002sjh.1_Missense_Mutation_p.P2348L	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Homo sapiens Alstrom syndrome 1 (ALMS1), mRNA.	2960					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						TCAGACCTTCCGTCTCCCATT	0.438000														95			47		0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237942006	237942006	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:237942006G>A	uc001hyl.1	+	87	11936	c.11816G>A	c.(11815-11817)aGg>aAg	p.R3939K	RYR2_uc010pya.2_Missense_Mutation_p.R354K	NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	3939					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.W3939R(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GCACACAGCAGGCTGTGGGAT	0.448000														40			29		0	0	1	0	0
PLXNA2	5362	broad.mit.edu	37	1	208252614	208252614	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:208252614T>G	uc001hgz.3	-	11	3335	c.2577A>C	c.(2575-2577)caA>caC	p.Q859H		NM_025179	NP_079455	O75051	PLXA2_HUMAN	Homo sapiens plexin A2 (PLXNA2), mRNA.	859	IPT/TIG 1.				axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		CCTCGGTGATTTGAGGGTTGG	0.597000														43			6		0	0	1	0	0
NPR3	4883	broad.mit.edu	37	5	32738972	32738972	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:32738972G>T	uc003jhv.3	+	2	1340	c.895G>T	c.(895-897)Gat>Tat	p.D299Y	NPR3_uc010iuo.3_Missense_Mutation_p.D83Y|NPR3_uc003jhw.2_Missense_Mutation_p.D83Y|NPR3_uc003jhu.3_Missense_Mutation_p.D299Y	NM_001204375	NP_001191304	P17342	ANPRC_HUMAN	Homo sapiens natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C) (NPR3), transcript variant 1, mRNA.	299					osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	TTCCATAGGAGATGGCTCATG	0.458000														59			8		0.00448238	0.0046769	1	1	0
C14orf102	55051	broad.mit.edu	37	14	90770309	90770309	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:90770309C>T	uc001xyi.2	-	4	1208	c.975G>A	c.(973-975)acG>acA	p.T325T	C14orf102_uc010atp.1_5'UTR|C14orf102_uc001xyj.2_Silent_p.T94T	NM_017970	NP_060440	Q9H7Z3	CN102_HUMAN	Homo sapiens chromosome 14 open reading frame 102 (C14orf102), mRNA.	325							protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(10)|lung(12)|ovary(5)|prostate(2)|upper_aerodigestive_tract(1)	39		all_cancers(154;0.118)		COAD - Colon adenocarcinoma(157;0.218)		TCCACAGCTGCGTATCCCGAG	0.512000														77			41		0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62284747	62284747	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:62284747C>T	uc001ntl.3	-	4	17442	c.17142G>A	c.(17140-17142)atG>atA	p.M5714I	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	5714					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TAAACTTGGGCATTTTGATCT	0.463000														77			46		0	0	1	0	0
COPG1	22820	broad.mit.edu	37	3	128987792	128987792	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:128987792G>A	uc003els.3	+	17	1892	c.1792G>A	c.(1792-1794)Gca>Aca	p.A598T	COPG1_uc010htb.3_Missense_Mutation_p.A504T	NM_016128	NP_057212	Q9Y678	COPG_HUMAN	Homo sapiens coatomer protein complex, subunit gamma (COPG), mRNA.	598					COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity										CCCCATCACAGCAGTCAAACA	0.547000														44			34		0	0	1	0	0
LARP6	55323	broad.mit.edu	37	15	71125092	71125092	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:71125092C>T	uc002ass.3	-	2	846	c.775G>A	c.(775-777)Gcc>Acc	p.A259T		NM_018357	NP_060827	Q9BRS8	LARP6_HUMAN	Homo sapiens La ribonucleoprotein domain family, member 6 (LARP6), transcript variant 1, mRNA.	259					RNA processing	Golgi apparatus|nucleus|ribonucleoprotein complex	RNA binding|nucleotide binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	19						TCCACGATGGCGCACTCCTGG	0.557000														34			15		0	0	1	0	0
PTP4A3	11156	broad.mit.edu	37	8	142435204	142435204	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:142435204C>T	uc003ywg.1	+	1	496	c.162C>T	c.(160-162)gaC>gaT	p.D54D	PTP4A3_uc003ywh.1_Silent_p.D54D|PTP4A3_uc010met.1_Intron	NM_032611	NP_116000	O75365	TP4A3_HUMAN	Homo sapiens protein tyrosine phosphatase type IVA, member 3 (PTP4A3), transcript variant 1, mRNA.	54						early endosome|plasma membrane	identical protein binding|prenylated protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(2)|large_intestine(1)|lung(3)	6	all_cancers(97;2.55e-15)|all_epithelial(106;1.39e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0474)			TGACCTATGACAAAACGCCGC	0.672000														17			4		0	0	1	0	0
UBN2	254048	broad.mit.edu	37	7	138969078	138969078	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:138969078C>T	uc011kqr.2	+	14	3427	c.3427C>T	c.(3427-3429)Ctt>Ttt	p.L1143F		NM_173569	NP_775840	Q6ZU65	UBN2_HUMAN	Homo sapiens ubinuclein 2 (UBN2), mRNA.	1143	Ser-rich.									NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						TACAAAAAATCTTCAGGCCCC	0.473000														41			8		0	0	1	0	0
PLIN4	729359	broad.mit.edu	37	19	4513206	4513206	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:4513206C>T	uc002mar.1	-	2	724	c.724G>A	c.(724-726)Ggt>Agt	p.G242S	PLIN4_uc010dub.1_5'Flank	NM_001080400	NP_001073869	Q96Q06	PLIN4_HUMAN	Homo sapiens perilipin 4 (PLIN4), mRNA.	242	27 X 33 AA approximate tandem repeat.					lipid particle|plasma membrane		p.G170S(1)|p.G242S(1)		NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						GTGTCCACACCGGTCTGAATG	0.572000														110			11		0	0	1	0	0
FAM83G	644815	broad.mit.edu	37	17	18881653	18881653	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:18881653G>A	uc002guw.3	-	4	1493	c.1326C>T	c.(1324-1326)agC>agT	p.S442S	SLC5A10_uc002gur.1_Intron|SLC5A10_uc002guu.1_Intron|SLC5A10_uc002gut.1_Intron|SLC5A10_uc002guv.1_Intron|SLC5A10_uc010vyl.1_Intron	NM_001039999	NP_001035088	A6ND36	FA83G_HUMAN	Homo sapiens family with sequence similarity 83, member G (FAM83G), mRNA.	442										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						GGTTCATCTGGCTGGGCTGGG	0.637000														14			3		0	0	1	0	0
SOGA2	23255	broad.mit.edu	37	18	8783532	8783532	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:8783532A>G	uc002knr.2	+	5	564	c.422A>G	c.(421-423)gAc>gGc	p.D141G	SOGA2_uc002knq.2_Missense_Mutation_p.D141G|SOGA2_uc010dkw.1_5'UTR	NM_015210	NP_056025	Q9Y4B5	CC165_HUMAN	Homo sapiens coiled-coil domain containing 165 (CCDC165), mRNA.	492																	TGGCAGGATGACAGTGCCGAT	0.522000														7			5		0	0	1	0	0
OFD1	8481	broad.mit.edu	37	X	13775826	13775826	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:13775826C>T	uc004cvp.4	+	13	1818	c.1459C>T	c.(1459-1461)Cgg>Tgg	p.R487W	OFD1_uc004cvr.4_Missense_Mutation_p.R54W|OFD1_uc011mil.2_Missense_Mutation_p.R54W|OFD1_uc004cvq.4_Missense_Mutation_p.R347W|OFD1_uc010nen.3_Missense_Mutation_p.R486W|OFD1_uc004cvs.4_Non-coding_Transcript|OFD1_uc004cvu.4_Missense_Mutation_p.R446W|OFD1_uc004cvv.4_Missense_Mutation_p.R446W	NM_003611	NP_003602	O75665	OFD1_HUMAN	Homo sapiens oral-facial-digital syndrome 1 (OFD1), mRNA.	487					G2/M transition of mitotic cell cycle|cilium movement involved in determination of left/right asymmetry	centriole|cilium|cytosol|microtubule basal body|nuclear membrane	alpha-tubulin binding|gamma-tubulin binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						GAAAGAACTACGGAAAGCCGA	0.428000														38			25		0	0	1	0	0
CHIT1	1118	broad.mit.edu	37	1	203188359	203188359	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:203188359C>T	uc001gzn.2	-	8	1110	c.1014G>A	c.(1012-1014)gaG>gaA	p.E338E	CHIT1_uc001gzm.1_Non-coding_Transcript|CHIT1_uc009xal.1_Silent_p.E129E|CHIT1_uc009xam.1_Non-coding_Transcript|CHIT1_uc009xan.1_Non-coding_Transcript|CHIT1_uc001gzo.2_Silent_p.E329E	NM_003465	NP_003456	Q13231	CHIT1_HUMAN	Homo sapiens chitinase 1 (chitotriosidase) (CHIT1), transcript variant 1, mRNA.	338					chitin catabolic process|immune response|response to bacterium	extracellular space|lysosome	cation binding|chitin binding|endochitinase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						TTTTGAAGCTCTCCACATCAT	0.547000														84			31		0	0	1	0	0
BCAR3	8412	broad.mit.edu	37	1	94049657	94049657	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:94049657G>A	uc001dpz.3	-	5	1226	c.951C>T	c.(949-951)agC>agT	p.S317S	BCAR3_uc001dqa.3_Silent_p.S317S|BCAR3_uc001dqb.3_Silent_p.S317S|BCAR3_uc001dpx.4_5'UTR|BCAR3_uc001dpy.3_Silent_p.S226S|BCAR3_uc009wdm.1_5'UTR	NM_003567	NP_003558	O75815	BCAR3_HUMAN	Homo sapiens breast cancer anti-estrogen resistance 3 (BCAR3), mRNA.	317					response to drug|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		AGGCGGGCTGGCTACCACTCT	0.453000														27			37		0	0	1	0	0
ASIC2	40	broad.mit.edu	37	17	32483071	32483071	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:32483071C>T	uc002hhu.3	-	0	755	c.481G>A	c.(481-483)Ggc>Agc	p.G161S		NM_001094	NP_001085	Q16515	ACCN1_HUMAN	Homo sapiens amiloride-sensitive cation channel 1, neuronal (ACCN1), transcript variant MDEG1, mRNA.	161					central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding									Amiloride(DB00594)	AGGTCATGGCCCACACGGTGC	0.557000														100			7		0	0	1	0	0
C2orf71	388939	broad.mit.edu	37	2	29294474	29294474	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:29294474G>T	uc002rmt.2	-	0	2654	c.2654C>A	c.(2653-2655)tCt>tAt	p.S885Y		NM_001029883	NP_001025054	A6NGG8	CB071_HUMAN	Homo sapiens chromosome 2 open reading frame 71 (C2orf71), mRNA.	885					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						GGGGCTCACAGAGGCCCTCAG	0.662000														51			7		2.0095e-06	2.27092e-06	1	1	0
ITPR2	3709	broad.mit.edu	37	12	26636744	26636744	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:26636744T>C	uc001rhg.3	-	41	6316	c.5899A>G	c.(5899-5901)Acc>Gcc	p.T1967A	ITPR2_uc009zjg.1_Missense_Mutation_p.T118A	NM_002223	NP_002214	Q14571	ITPR2_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 2 (ITPR2), mRNA.	1967					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					AGGCCACCGGTTGTACTTCCA	0.473000														158			16		0	0	1	0	0
ZNF3	7551	broad.mit.edu	37	7	99669446	99669446	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:99669446T>G	uc003uss.3	-	2	1000	c.682A>C	c.(682-684)Atc>Ctc	p.I228L	ZNF3_uc003usp.3_Intron|ZNF3_uc003usq.3_Missense_Mutation_p.I221L|ZNF3_uc010lgj.3_Missense_Mutation_p.I185L|ZNF3_uc003usr.3_Missense_Mutation_p.I221L|ZNF3_uc003ust.4_Missense_Mutation_p.I221L			P17036	ZNF3_HUMAN	Homo sapiens zinc finger protein 3 (ZNF3), transcript variant 2, mRNA.	221					cell differentiation|leukocyte activation|multicellular organismal development	nucleus	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.I221V(1)		NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	25	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)	Ovarian(593;2.06e-05)|Myeloproliferative disorder(862;0.0122)|Breast(660;0.029)	STAD - Stomach adenocarcinoma(171;0.129)			CCAGTGTGGATTCTCTGATGT	0.463000														103			6		0	0	1	0	0
RHOT1	55288	broad.mit.edu	37	17	30521076	30521076	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:30521076A>G	uc002hgw.3	+	10	1058	c.819A>G	c.(817-819)cgA>cgG	p.R273R	RHOT1_uc002hgy.3_Silent_p.R273R|RHOT1_uc002hgz.3_Silent_p.R273R|RHOT1_uc002hha.3_Silent_p.R146R|RHOT1_uc010csv.3_Non-coding_Transcript|RHOT1_uc002hgx.3_Silent_p.R146R|RHOT1_uc010wby.2_Silent_p.R273R|RHOT1_uc002hhb.3_Silent_p.R252R|RHOT1_uc002hgv.3_Silent_p.R273R	NM_001033568	NP_001028740	Q8IXI2	MIRO1_HUMAN	Homo sapiens ras homolog gene family, member T1 (RHOT1), transcript variant 1, mRNA.	273					apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	GTP binding|GTPase activity|calcium ion binding|protein binding	p.R272R(1)		NS(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28		Myeloproliferative disorder(56;0.0255)|Breast(31;0.116)|Ovarian(249;0.182)				TGCTTCGACGATTTGGTTATG	0.333000														326			190		0	0	1	0	0
RAB3D	9545	broad.mit.edu	37	19	11436202	11436202	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:11436202G>A	uc002mqx.3	-	4	793	c.532C>T	c.(532-534)Cgc>Tgc	p.R178C	TSPAN16_uc002mqv.1_Intron	NM_004283	NP_004274	O95716	RAB3D_HUMAN	Homo sapiens RAB3D, member RAS oncogene family (RAB3D), mRNA.	178					exocytosis|protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|ovary(2)	14						TCCACCAGGCGCTCGAAGACC	0.567000														71			7		0	0	1	0	0
DST	667	broad.mit.edu	37	6	56492955	56492955	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:56492955G>A	uc003pcy.4	-	18	2977	c.2869C>T	c.(2869-2871)Cgg>Tgg	p.R957W	DST_uc021zay.1_Missense_Mutation_p.R1323W|DST_uc021zax.1_Missense_Mutation_p.R957W|DST_uc003pdc.4_Missense_Mutation_p.R957W|DST_uc003pdd.4_Missense_Mutation_p.R957W	NM_015548	NP_056363	Q03001	DYST_HUMAN	Homo sapiens dystonin (DST), transcript variant 1eA, mRNA.	1283					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	Z disc|actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein C-terminus binding|protein binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TCTAAGTCCCGTAACCTAAGA	0.438000														31			10		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61831460	61831460	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:61831460G>T	uc001jky.3	-	36	9517	c.9179C>A	c.(9178-9180)tCt>tAt	p.S3060Y	ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	3060					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						ACTAGAGGGAGATTCCTTTCC	0.468000														76			49		3.7052e-28	4.87533e-28	1	1	0
MOB3C	148932	broad.mit.edu	37	1	47075341	47075341	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:47075341G>A	uc001cqe.4	-	3	850	c.793C>T	c.(793-795)Cgg>Tgg	p.R265W	MKNK1_uc010omf.1_Intron|MOB3C_uc001cqf.4_Missense_Mutation_p.R213W	NM_145279	NP_958805	Q70IA8	MOL2C_HUMAN	Homo sapiens MOB kinase activator 3C (MOB3C), transcript variant 1, mRNA.	213							metal ion binding										TGGCAGATCCGCTCTGTCATC	0.557000														23			5		0	0	1	0	0
RMI1	80010	broad.mit.edu	37	9	86616977	86616977	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:86616977C>T	uc022bjb.1	+	0	1076	c.1076C>T	c.(1075-1077)aCg>aTg	p.T359M	RMI1_uc004anq.4_Missense_Mutation_p.T359M|RMI1_uc004anr.4_Missense_Mutation_p.T359M|RMI1_uc004anp.4_Missense_Mutation_p.T359M|RMI1_uc004ans.4_Missense_Mutation_p.T359M	NM_024945	NP_079221	Q9H9A7	RMI1_HUMAN	Homo sapiens RMI1, RecQ mediated genome instability 1, homolog (S. cerevisiae) (RMI1), mRNA.	359					DNA replication	nucleus				biliary_tract(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						CCTAATACTACGAATAACTTT	0.323000														34			31		0	0	1	0	0
SPAG17	200162	broad.mit.edu	37	1	118634246	118634246	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:118634246G>A	uc001ehk.2	-	9	1410	c.1342C>T	c.(1342-1344)Cat>Tat	p.H448Y		NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	Homo sapiens sperm associated antigen 17 (SPAG17), mRNA.	448						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		AGCATACAATGCAGTATCAGG	0.383000														17			12		0	0	1	0	0
CDC45	8318	broad.mit.edu	37	22	19496191	19496191	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:19496191C>A	uc011aha.2	+	13	1368	c.1290C>A	c.(1288-1290)atC>atA	p.I430I	CDC45_uc011agz.1_Silent_p.I393I|CDC45_uc002zpr.3_Silent_p.I398I|CDC45_uc002zpt.3_Silent_p.I352I	NM_001178010	NP_001171481	O75419	CDC45_HUMAN	Homo sapiens cell division cycle 45 homolog (S. cerevisiae) (CDC45), transcript variant 1, mRNA.	398					DNA replication checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle	centrosome|nucleoplasm	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	19						ATCACTTCATCCAGGCTCTGG	0.582000														21			4		0.000602214	0.000641151	1	1	0
LYST	1130	broad.mit.edu	37	1	235972444	235972444	+	Silent	SNP	C	T	T	rs149520131		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:235972444C>T	uc001hxj.2	-	4	1849	c.1674G>A	c.(1672-1674)ttG>ttA	p.L558L	LYST_uc009xgb.1_Non-coding_Transcript|LYST_uc010pxs.1_Non-coding_Transcript|LYST_uc001hxl.1_Silent_p.L558L	NM_000081	NP_000072	Q99698	LYST_HUMAN	Homo sapiens lysosomal trafficking regulator (LYST), mRNA.	558					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			GTAGTAAGCGCAAGCACTGAT	0.453000														91			13		0	0	1	0	0
PRICKLE4	29964	broad.mit.edu	37	6	41751912	41751912	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:41751912A>G	uc011duf.1	+	3	424	c.176A>G	c.(175-177)aAc>aGc	p.N59S	PRICKLE4_uc003ord.2_Non-coding_Transcript|TOMM6_uc003org.3_5'Flank|TOMM6_uc011dug.1_5'Flank	NM_013397	NP_037529	Q2TBC4	PRIC4_HUMAN	Homo sapiens prickle homolog 4 (Drosophila) (PRICKLE4), mRNA.	19	PET.					nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	13	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CTGGACACCAACCAAGCCCCC	0.547000														16			9		0	0	1	0	0
SRRM2	23524	broad.mit.edu	37	16	2814399	2814399	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:2814399G>T	uc002crk.3	+	10	4419	c.3870G>T	c.(3868-3870)caG>caT	p.Q1290H	SRRM2_uc002crj.1_Missense_Mutation_p.Q1194H|SRRM2_uc002crl.1_Missense_Mutation_p.Q1290H|SRRM2_uc010bsu.1_Missense_Mutation_p.Q1194H	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	Homo sapiens serine/arginine repetitive matrix 2 (SRRM2), mRNA.	1290	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|RNA binding|protein N-terminus binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						GCCAGTCACAGGCTTCTTTGG	0.453000														190			21		2.89027e-11	3.52362e-11	1	1	0
ABCG5	64240	broad.mit.edu	37	2	44051213	44051213	+	Missense_Mutation	SNP	G	A	A	rs149418765		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:44051213G>A	uc002rtn.3	-	8	1303	c.1163C>T	c.(1162-1164)aCg>aTg	p.T388M	ABCG5_uc002rtm.3_5'UTR|ABCG5_uc002rto.3_Missense_Mutation_p.T217M|ABCG5_uc002rtp.3_5'UTR	NM_022436	NP_071881	Q9H222	ABCG5_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 5 (ABCG5), mRNA.	388	ABC transmembrane type-2.				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				AAGGAGACGCGTAATCACTGC	0.458000														30			15		0	0	1	0	0
GCLC	2729	broad.mit.edu	37	6	53370255	53370255	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:53370255A>G	uc003pbw.2	-	11	1814	c.1330T>C	c.(1330-1332)Ttt>Ctt	p.F444L	GCLC_uc003pbv.1_Missense_Mutation_p.F168L|GCLC_uc021zau.1_Missense_Mutation_p.F406L	NM_001498	NP_001489	P48506	GSH1_HUMAN	Homo sapiens glutamate-cysteine ligase, catalytic subunit (GCLC), transcript variant 1, mRNA.	444					anti-apoptosis|cell redox homeostasis|cysteine metabolic process|glutamate metabolic process|glutathione biosynthetic process|negative regulation of transcription, DNA-dependent|regulation of blood vessel size|response to heat|response to hormone stimulus|response to oxidative stress|xenobiotic metabolic process	cytosol	ADP binding|ATP binding|coenzyme binding|glutamate binding|glutamate-cysteine ligase activity|magnesium ion binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Lung NSC(77;0.0137)				L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)	AGTACCACAAACACCACATAG	0.418000														48			4		0	0	1	0	0
ABCA7	10347	broad.mit.edu	37	19	1046330	1046330	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:1046330G>A	uc002lqw.4	+	12	1778	c.1547G>A	c.(1546-1548)cGc>cAc	p.R516H	ABCA7_uc010dsb.1_Missense_Mutation_p.R378H	NM_019112	NP_061985	Q8IZY2	ABCA7_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 7 (ABCA7), mRNA.	516					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|Golgi membrane|endosome membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity	p.R516H(2)		NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCAGCCGTCCGCGTGCTCAGC	0.692000														242			21		0	0	1	0	0
EP300	2033	broad.mit.edu	37	22	41574489	41574489	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:41574489G>T	uc003azl.4	+	30	7169	c.6774G>T	c.(6772-6774)caG>caT	p.Q2258H		NM_001429	NP_001420	Q09472	EP300_HUMAN	Homo sapiens E1A binding protein p300 (EP300), mRNA.	2258					DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|N-terminal peptidyl-lysine acetylation|apoptosis|cell cycle|histone H4 acetylation|interspecies interaction between organisms|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	DNA binding|RNA polymerase II activating transcription factor binding|androgen receptor binding|beta-catenin binding|histone acetyltransferase activity|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						CCAGTCTACAGGCCTATCAGC	0.582000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome					25			18		1.33834e-09	1.59673e-09	1	1	0
STON2	85439	broad.mit.edu	37	14	81744288	81744288	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:81744288G>A	uc010tvu.2	-	3	1565	c.1367C>T	c.(1366-1368)aCt>aTt	p.T456I	STON2_uc001xvk.1_Missense_Mutation_p.T456I|STON2_uc010tvt.2_Missense_Mutation_p.T253I	NM_033104	NP_149095	Q8WXE9	STON2_HUMAN	Homo sapiens stonin 2 (STON2), transcript variant 1, mRNA.	456	SHD.				endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		CAGGTAACCAGTGTCTGTCAG	0.502000														160			96		0	0	1	0	0
EHBP1L1	254102	broad.mit.edu	37	11	65349686	65349686	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:65349686G>A	uc001oeo.4	+	8	1808	c.1543G>A	c.(1543-1545)Gca>Aca	p.A515T		NM_001099409	NP_001092879	Q8N3D4	EH1L1_HUMAN	Homo sapiens EH domain binding protein 1-like 1 (EHBP1L1), mRNA.	515										central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						GAGGGGTGGAGCACCTGGTAT	0.652000														10			13		0	0	1	0	0
KCNMB4	27345	broad.mit.edu	37	12	70824314	70824314	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:70824314C>T	uc001svx.3	+	2	967	c.514C>T	c.(514-516)Cat>Tat	p.H172Y		NM_014505	NP_055320	Q86W47	KCMB4_HUMAN	Homo sapiens potassium large conductance calcium-activated channel, subfamily M, beta member 4 (KCNMB4), mRNA.	172					detection of calcium ion|platelet activation|regulation of action potential in neuron|regulation of neurotransmitter secretion|regulation of vasoconstriction|synaptic transmission	voltage-gated potassium channel complex	calcium-activated potassium channel activity|protein binding			kidney(1)|large_intestine(4)|lung(5)	10	Renal(347;0.236)		Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)			TGTCCTCCTGCATTGCTTCCT	0.517000														87			58		0	0	1	0	0
CDC42BPB	9578	broad.mit.edu	37	14	103465943	103465943	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:103465943C>T	uc001ymi.1	-	4	787	c.555G>A	c.(553-555)gtG>gtA	p.V185V		NM_006035	NP_006026	Q9Y5S2	MRCKB_HUMAN	Homo sapiens CDC42 binding protein kinase beta (DMPK-like) (CDC42BPB), mRNA.	185	Protein kinase.				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		CAATGGCCAGCACCATTTCAC	0.428000														44			34		0	0	1	0	0
RPRD2	23248	broad.mit.edu	37	1	150444346	150444346	+	Silent	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:150444346T>G	uc009wlr.3	+	10	3123	c.2922T>G	c.(2920-2922)ctT>ctG	p.L974L	RPRD2_uc010pcc.1_Intron|RPRD2_uc001eup.4_Silent_p.L948L	NM_015203	NP_056018	Q5VT52	RPRD2_HUMAN	Homo sapiens regulation of nuclear pre-mRNA domain containing 2 (RPRD2), mRNA.	974							protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						ATCGTTCCCTTTTCTCTCCGC	0.567000														251			107		0	0	1	0	0
TRAPPC8	22878	broad.mit.edu	37	18	29429587	29429587	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:29429587G>A	uc002kxc.4	-	24	4041	c.3677C>T	c.(3676-3678)gCt>gTt	p.A1226V	TRAPPC8_uc002kxb.4_Missense_Mutation_p.A1172V|TRAPPC8_uc002kxd.4_Non-coding_Transcript	NM_014939	NP_055754	Q9Y2L5	TPPC8_HUMAN	Homo sapiens trafficking protein particle complex 8 (TRAPPC8), mRNA.	1226					ER to Golgi vesicle-mediated transport	cis-Golgi network				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CAATCTCACAGCATCCTCTGT	0.363000														62			23		0	0	1	0	0
UMODL1	89766	broad.mit.edu	37	21	43524161	43524161	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:43524161G>T	uc002zag.1	+	8	1483	c.1483G>T	c.(1483-1485)Gtg>Ttg	p.V495L	UMODL1_uc002zad.1_Missense_Mutation_p.V423L|UMODL1_uc002zae.1_Missense_Mutation_p.V423L|UMODL1_uc002zaf.1_Missense_Mutation_p.V495L|UMODL1_uc010gow.1_Missense_Mutation_p.V287L|UMODL1_uc002zai.1_Missense_Mutation_p.V146L|UMODL1_uc010gox.1_Non-coding_Transcript|UMODL1_uc010goy.1_Missense_Mutation_p.V146L|UMODL1_uc002zaj.1_Non-coding_Transcript|UMODL1_uc010goz.1_Missense_Mutation_p.V240L|C21orf128_uc002zak.2_Intron	NM_173568	NP_001186456	Q5DID0	UROL1_HUMAN	Homo sapiens uromodulin-like 1 (UMODL1), transcript variant 2, mRNA.	495	SEA 1.					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						GGCAAGCACAGTGTTCCAGAT	0.622000														71			7		0.00621372	0.00645399	1	1	0
BCAR3	8412	broad.mit.edu	37	1	94054696	94054696	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:94054696G>A	uc001dpz.3	-	4	1042	c.767C>T	c.(766-768)aCg>aTg	p.T256M	BCAR3_uc001dqa.3_Missense_Mutation_p.T256M|BCAR3_uc001dqb.3_Missense_Mutation_p.T256M|BCAR3_uc001dpy.3_Missense_Mutation_p.T165M|LOC100129046_uc009wdn.3_5'Flank	NM_003567	NP_003558	O75815	BCAR3_HUMAN	Homo sapiens breast cancer anti-estrogen resistance 3 (BCAR3), mRNA.	256					response to drug|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		CAGAGGCACCGTCCTGTTGAT	0.672000														24			4		0	0	1	0	0
C20orf11	54994	broad.mit.edu	37	20	61574940	61574940	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:61574940C>T	uc002ydy.3	+	3	586	c.409C>T	c.(409-411)Cga>Tga	p.R137*		NM_017896	NP_060366	Q9NWU2	CT011_HUMAN	Homo sapiens chromosome 20 open reading frame 11 (C20orf11), mRNA.	137						nucleus	protein binding			endometrium(1)|kidney(1)|lung(3)|skin(1)|urinary_tract(1)	7	Breast(26;5.68e-08)					CGAGGAGAGCCGAGAGTGCCT	0.632000														20			14		0	0	1	0	0
WNT11	7481	broad.mit.edu	37	11	75907592	75907592	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:75907592G>A	uc001oxe.3	-	1	377	c.254C>T	c.(253-255)gCc>gTc	p.A85V	WNT11_uc001oxf.1_Missense_Mutation_p.A85V	NM_004626	NP_004617	O96014	WNT11_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 11 (WNT11), mRNA.	85					Wnt receptor signaling pathway, calcium modulating pathway|adrenal gland development|anterior/posterior pattern formation|artery morphogenesis|axis specification|bone mineralization|cellular response to retinoic acid|cloacal septation|embryonic skeletal system development|endoderm development|lung-associated mesenchyme development|mesonephric duct development|negative regulation of apoptosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell migration|negative regulation of transcription, DNA-dependent|neuroendocrine cell differentiation|neuron differentiation|osteoblast differentiation|outflow tract morphogenesis|palate development|positive regulation of cell migration|positive regulation of protein kinase C signaling cascade|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor-beta2 production|protein localization at cell surface|protein phosphorylation|tight junction assembly|ureteric bud morphogenesis|ventricular septum morphogenesis	cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|Ras GTPase activator activity|protein kinase activator activity|transcription regulatory region DNA binding			breast(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20						GCGCATGTCGGCAAAGGCCCG	0.627000														98			36		0	0	1	0	0
PCDH19	57526	broad.mit.edu	37	X	99551661	99551661	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:99551661C>A	uc010nmz.3	-	5	4737	c.3061G>T	c.(3061-3063)Gat>Tat	p.D1021Y	PCDH19_uc004efw.4_Missense_Mutation_p.D973Y|PCDH19_uc004efx.4_Missense_Mutation_p.D974Y	NM_001184880	NP_001171809	Q8TAB3	PCD19_HUMAN	Homo sapiens protocadherin 19 (PCDH19), transcript variant 3, mRNA.	1021					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						TCGCTGACATCTTTCCCAAAG	0.562000														40			16		6.31663e-08	7.34157e-08	1	1	0
SNX9	51429	broad.mit.edu	37	6	158323018	158323018	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:158323018C>T	uc003qqv.1	+	5	734	c.561C>T	c.(559-561)ggC>ggT	p.G187G		NM_016224	NP_057308	Q9Y5X1	SNX9_HUMAN	Homo sapiens sorting nexin 9 (SNX9), mRNA.	187					cell communication|intracellular protein transport|lipid tube assembly|positive regulation of GTPase activity|positive regulation of protein oligomerization|receptor-mediated endocytosis	clathrin-coated vesicle|cytoplasmic vesicle membrane|extrinsic to internal side of plasma membrane|ruffle|trans-Golgi network	1-phosphatidylinositol binding|protein homodimerization activity|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167)		OV - Ovarian serous cystadenocarcinoma(65;8.06e-18)|BRCA - Breast invasive adenocarcinoma(81;4.48e-05)		CTGATGCAGGCGGCGCTCAGC	0.502000														39			19		0	0	1	0	0
AMBRA1	55626	broad.mit.edu	37	11	46564140	46564140	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:46564140C>T	uc001ncv.2	-	7	1471	c.1157G>A	c.(1156-1158)gGg>gAg	p.G386E	AMBRA1_uc010rgt.1_Missense_Mutation_p.G42E|AMBRA1_uc009ylc.1_Missense_Mutation_p.G476E|AMBRA1_uc001ncu.1_Missense_Mutation_p.G386E|AMBRA1_uc010rgu.1_Missense_Mutation_p.G476E|AMBRA1_uc001ncw.2_Missense_Mutation_p.G386E|AMBRA1_uc001ncx.2_Missense_Mutation_p.G476E	NM_017749	NP_060219	Q9C0C7	AMRA1_HUMAN	Homo sapiens autophagy/beclin-1 regulator 1 (AMBRA1), mRNA.	449					autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		AGTTGCCAACCCTGATGCCGG	0.547000														70			40		0	0	1	0	0
ZNF311	282890	broad.mit.edu	37	6	28964268	28964268	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:28964268G>T	uc003nlu.2	-	6	1022	c.511C>A	c.(511-513)Ctc>Atc	p.L171I	ZNF311_uc011dlk.1_Missense_Mutation_p.L79I|ZNF311_uc003nlv.2_Missense_Mutation_p.L79I	NM_001010877	NP_001010877	Q5JNZ3	ZN311_HUMAN	Homo sapiens zinc finger protein 311 (ZNF311), mRNA.	171					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(2)	28						ACTTTTAGGAGACTGTTAAAT	0.388000														64			22		9.95505e-16	1.25642e-15	1	1	0
MDN1	23195	broad.mit.edu	37	6	90468059	90468059	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:90468059G>A	uc003pnn.1	-	18	2733	c.2617C>T	c.(2617-2619)Cgg>Tgg	p.R873W	MDN1_uc003pno.1_Missense_Mutation_p.R292W	NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	Homo sapiens MDN1, midasin homolog (yeast) (MDN1), mRNA.	873					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	p.R873Q(1)		NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TCAGGATGCCGAACCAGTGGC	0.453000														8			6		0	0	1	0	0
POLR3B	55703	broad.mit.edu	37	12	106903277	106903277	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:106903277C>T	uc001tlp.3	+	27	3574	c.3352C>T	c.(3352-3354)Cag>Tag	p.Q1118*	LOC100287944_uc021rdg.1_Intron|POLR3B_uc001tlq.3_Nonsense_Mutation_p.Q1060*	NM_018082	NP_001154180	Q9NW08	RPC2_HUMAN	Homo sapiens polymerase (RNA) III (DNA directed) polypeptide B (POLR3B), transcript variant 1, mRNA.	1118					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						CCAGGAACTACAGTCTATGAA	0.443000														55			22		0	0	1	0	0
CDHR2	54825	broad.mit.edu	37	5	176005051	176005051	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:176005051C>T	uc021yie.1	+	14	1803	c.1529C>T	c.(1528-1530)aCg>aTg	p.T510M	CDHR2_uc003mem.2_Missense_Mutation_p.T510M|CDHR2_uc003men.1_Missense_Mutation_p.T510M	NM_001171976	NP_060145	Q9BYE9	CDHR2_HUMAN	Homo sapiens cadherin-related family member 2 (CDHR2), transcript variant 1, mRNA.	510	Cadherin 5.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						GACCCAGACACGGGCGCGTGG	0.667000														20			3		0	0	1	0	0
DNM1L	10059	broad.mit.edu	37	12	32871622	32871622	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:32871622C>T	uc010skh.1	+	7	865	c.863C>T	c.(862-864)gCg>gTg	p.A288V	DNM1L_uc010skf.1_Non-coding_Transcript|DNM1L_uc010skg.1_Intron|DNM1L_uc001rld.2_Missense_Mutation_p.A222V|DNM1L_uc001rle.2_Missense_Mutation_p.A222V|DNM1L_uc001rlf.2_Missense_Mutation_p.A222V|DNM1L_uc001rlg.2_Missense_Mutation_p.A288V|DNM1L_uc001rlh.2_Missense_Mutation_p.A275V|DNM1L_uc010ski.1_Intron	NM_012062	NP_036192	O00429	DNM1L_HUMAN	Homo sapiens dynamin 1-like (DNM1L), transcript variant 1, mRNA.	222	GTPase domain.				cellular component disassembly involved in apoptosis|mitochondrial fragmentation involved in apoptosis|mitochondrial membrane organization|positive regulation of mitochondrial fission	cis-Golgi network|cytosol|endomembrane system|endoplasmic reticulum|mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding	p.A222V(1)		cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	23	Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					CTCATGGATGCGGGTACTGAT	0.383000														87			51		0	0	1	0	0
LPP	4026	broad.mit.edu	37	3	188592251	188592251	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:188592251C>T	uc003frs.2	+	10	2069	c.1823C>T	c.(1822-1824)gCg>gTg	p.A608V	LPP_uc011bsg.2_Missense_Mutation_p.A461V|LPP_uc011bsi.2_Missense_Mutation_p.A608V|LPP_uc011bsj.2_Missense_Mutation_p.A445V	NM_005578	NP_005569	Q93052	LPP_HUMAN	Homo sapiens LIM domain containing preferred translocation partner in lipoma (LPP), transcript variant 1, mRNA.	608					cell adhesion	cytoplasm|focal adhesion|nucleus	protein binding|zinc ion binding		HMGA2/LPP(161)	NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)		ACCGCCAAGGCGAGCACTGAC	0.502000			T	"""HMGA2, MLL, C12orf9"""	"""lipoma, leukemia"""									42			23		0	0	1	0	0
FOXL2	668	broad.mit.edu	37	3	138664485	138664485	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:138664485G>A	uc003esw.3	-	0	1498	c.1080C>T	c.(1078-1080)taC>taT	p.Y360Y	AK128202_uc003esv.1_5'Flank|C3orf72_uc003esx.1_5'Flank|AK304483_uc011bmr.2_5'Flank	NM_023067	NP_075555	P58012	FOXL2_HUMAN	Homo sapiens forkhead box L2 (FOXL2), mRNA.	360					DNA fragmentation involved in apoptotic nuclear change|convergent extension|embryonic eye morphogenesis|extraocular skeletal muscle development|female somatic sex determination|induction of apoptosis|menstruation|negative regulation of transcription, DNA-dependent|ovarian follicle development|pattern specification process|positive regulation of caspase activity|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|caspase regulator activity|double-stranded DNA binding|estrogen receptor binding|promoter binding|sequence-specific DNA 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|ubiquitin conjugating enzyme binding			large_intestine(1)|lung(1)|ovary(333)|skin(1)	336						CGTGGTCCCAGTAAGAGCAAT	0.711000			Mis		granulosa-cell tumour of the ovary		"""Blepharophimosis, ptosis and epicanthus inversus Types I, II; Premature ovarian failure type III"""							23			15		0	0	1	0	0
CPA2	1358	broad.mit.edu	37	7	129909568	129909568	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:129909568C>T	uc003vpq.3	+	2	232	c.213C>T	c.(211-213)ttC>ttT	p.F71F	CPA2_uc011kpc.1_Silent_p.F71F	NM_001869	NP_001860	P48052	CBPA2_HUMAN	Homo sapiens carboxypeptidase A2 (pancreatic) (CPA2), mRNA.	71					proteolysis|vacuolar protein catabolic process	extracellular region|vacuole	metallocarboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Melanoma(18;0.0435)					GAGTTCCCTTCGTCAACGTCC	0.502000														79			7		0	0	1	0	0
MYH9	4627	broad.mit.edu	37	22	36684352	36684352	+	Silent	SNP	G	A	A	rs143947828	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:36684352G>A	uc003apg.3	-	33	5109	c.4878C>T	c.(4876-4878)atC>atT	p.I1626I		NM_002473	NP_002464	P35579	MYH9_HUMAN	Homo sapiens myosin, heavy chain 9, non-muscle (MYH9), mRNA.	1626			I -> V (in dbSNP:rs2269529).		actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	ADP binding|ATP binding|actin filament binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						TGGCCGAGTCGATGTGCGCCT	0.647000			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated					70			50		0	0	1	0	0
SDHC	6391	broad.mit.edu	37	1	161326568	161326568	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:161326568A>G	uc001gag.3	+	4	373	c.343A>G	c.(343-345)Aca>Gca	p.T115A	SDHC_uc001gah.3_Missense_Mutation_p.T81A|SDHC_uc001gai.3_Intron|SDHC_uc001gaj.3_Missense_Mutation_p.T62A|SDHC_uc001gak.3_Intron	NM_003001	NP_002992	Q99643	C560_HUMAN	Homo sapiens succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa (SDHC), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	115					respiratory electron transport chain|transport|tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain complex II|plasma membrane succinate dehydrogenase complex	electron carrier activity|heme binding|succinate dehydrogenase activity			urinary_tract(1)	1	all_cancers(52;6.96e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Succinic acid(DB00139)	ACTGATCCACACAGCTAAGTT	0.473000			"""Mis, N, F"""			"""paraganglioma, pheochromocytoma"""			Familial Paragangliomas;Carney-Stratakis syndrome					133			62		0	0	1	0	0
C10orf68	79741	broad.mit.edu	37	10	33135326	33135326	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:33135326A>G	uc001iwm.1	+	15	1604	c.1368A>G	c.(1366-1368)aaA>aaG	p.K456K	C10orf68_uc001iwl.1_Silent_p.K411K|C10orf68_uc001iwn.4_Silent_p.K452K|C10orf68_uc010qei.1_Silent_p.K428K|C10orf68_uc001iwo.4_Non-coding_Transcript	NM_024688	NP_078964	Q9H943	CJ068_HUMAN	Homo sapiens chromosome 10 open reading frame 68 (C10orf68), mRNA.	452										breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						AACTCTTAAAAGATGCTATTG	0.294000														26			21		0	0	1	0	0
CMAS	55907	broad.mit.edu	37	12	22218057	22218057	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:22218057A>G	uc001rfm.3	+	7	1196	c.1117A>G	c.(1117-1119)Aat>Gat	p.N373D	CMAS_uc001rfn.3_Non-coding_Transcript	NM_018686	NP_061156	Q8NFW8	NEUA_HUMAN	Homo sapiens cytidine monophosphate N-acetylneuraminic acid synthetase (CMAS), mRNA.	373					lipopolysaccharide biosynthetic process	nucleus	N-acylneuraminate cytidylyltransferase activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24						CTTGATAGGAAATGAAGTGTC	0.413000														77			44		0	0	1	0	0
MLLT3	4300	broad.mit.edu	37	9	20414197	20414197	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:20414197C>T	uc003zoe.2	-	4	906	c.647G>A	c.(646-648)aGt>aAt	p.S216N	MLLT3_uc011lne.1_Missense_Mutation_p.S184N|MLLT3_uc011lnf.1_Missense_Mutation_p.S213N|MLLT3_uc003zof.3_Missense_Mutation_p.S17N|MIR4473_uc022bdy.1_5'Flank	NM_004529	NP_004520	P42568	AF9_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (MLLT3), mRNA.	216					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		TTTGAAGGCACTTTTATGTTC	0.393000			T	MLL	ALL									274			30		0	0	1	0	0
CDC42BPB	9578	broad.mit.edu	37	14	103410310	103410310	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:103410310G>A	uc001ymi.1	-	29	4558	c.4326C>T	c.(4324-4326)agC>agT	p.S1442S	CDC42BPB_uc001ymj.1_Silent_p.S544S	NM_006035	NP_006026	Q9Y5S2	MRCKB_HUMAN	Homo sapiens CDC42 binding protein kinase beta (DMPK-like) (CDC42BPB), mRNA.	1442	CNH.				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		GTCCCATGTGGCTGAAGCAAA	0.562000														23			15		0	0	1	0	0
RIMKLB	57494	broad.mit.edu	37	12	8902618	8902618	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:8902618C>T	uc001qux.2	+	3	1598	c.336C>T	c.(334-336)tgC>tgT	p.C112C	RIMKLB_uc009zgf.2_Non-coding_Transcript|RIMKLB_uc010sgl.1_Silent_p.C112C|RIMKLB_uc001quw.2_Silent_p.C112C	NM_020734	NP_065785	Q9ULI2	RIMKB_HUMAN	Homo sapiens ribosomal modification protein rimK-like family member B (RIMKLB), mRNA.	112					protein modification process	cytoplasm	ATP binding|acid-amino acid ligase activity|metal ion binding	p.C112C(2)		central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						TCCTGAACTGCGTTAATAAGT	0.473000														50			27		0	0	1	0	0
ZNF766	90321	broad.mit.edu	37	19	52793382	52793382	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:52793382C>T	uc002pyt.1	+	4	760	c.383C>T	c.(382-384)aCc>aTc	p.T128I	ZNF766_uc002pyr.1_Missense_Mutation_p.T113I|ZNF766_uc002pys.1_3'UTR	NM_001010851	NP_001010851	Q5HY98	ZN766_HUMAN	Homo sapiens zinc finger protein 766 (ZNF766), mRNA.	113					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	17				GBM - Glioblastoma multiforme(134;0.00236)|OV - Ovarian serous cystadenocarcinoma(262;0.00871)		CTTGGATTAACCTTTCAGTTA	0.393000														32			31		0	0	1	0	0
TFR2	7036	broad.mit.edu	37	7	100238479	100238479	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100238479G>A	uc003uvv.1	-	2	372	c.303C>T	c.(301-303)taC>taT	p.Y101Y	TFR2_uc003uvw.1_Silent_p.Y101Y	NM_003227	NP_003218	Q9UP52	TFR2_HUMAN	Homo sapiens transferrin receptor 2 (TFR2), transcript variant 1, mRNA.	101					cellular iron ion homeostasis|iron ion transport|proteolysis	cytoplasm|integral to plasma membrane	peptidase activity|transferrin receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					GGAAGGCGACGTAGCCCAGTA	0.597000														61			5		0	0	1	0	0
CEACAM5	1048	broad.mit.edu	37	19	42219608	42219608	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:42219608C>A	uc002orl.3	+	3	864	c.743C>A	c.(742-744)tCt>tAt	p.S248Y	CEACAM5_uc010ehz.1_3'UTR|CEACAM5_uc002orj.1_Missense_Mutation_p.S248Y	NM_004363	NP_004354	P06731	CEAM5_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 5 (CEACAM5), mRNA.	248	Ig-like 3.					anchored to membrane|basolateral plasma membrane|integral to plasma membrane				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		CTAAACACATCTTACAGATCA	0.507000														52			5		0.000602214	0.000641151	1	1	0
C4orf17	84103	broad.mit.edu	37	4	100451060	100451060	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:100451060A>G	uc003huw.3	+	4	853	c.491A>G	c.(490-492)aAt>aGt	p.N164S	C4orf17_uc003hux.3_Non-coding_Transcript	NM_032149	NP_115525	Q53FE4	CD017_HUMAN	Homo sapiens chromosome 4 open reading frame 17 (C4orf17), mRNA.	164										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|urinary_tract(3)	18				OV - Ovarian serous cystadenocarcinoma(123;2.08e-08)		AGTACCAAGAATGATGTGAAA	0.393000														44			8		0	0	1	0	0
DCTD	1635	broad.mit.edu	37	4	183814219	183814219	+	Silent	SNP	C	T	T	rs147036938	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:183814219C>T	uc003ivf.3	-	4	597	c.423G>A	c.(421-423)gcG>gcA	p.A141A	DCTD_uc003ivg.3_Silent_p.A152A|DCTD_uc010irw.3_Silent_p.A82A|DCTD_uc003ivh.3_Silent_p.A82A	NM_001921	NP_001912	P32321	DCTD_HUMAN	Homo sapiens dCMP deaminase (DCTD), transcript variant 2, mRNA.	141					nucleotide biosynthetic process|pyrimidine base metabolic process|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide metabolic process	cytosol	dCMP deaminase activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|urinary_tract(1)	18		all_lung(41;5.16e-14)|Lung NSC(41;1.33e-13)|Colorectal(36;0.00666)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.202)		all cancers(43;1.65e-24)|Epithelial(43;3.44e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.39e-10)|Colorectal(24;4.69e-07)|COAD - Colon adenocarcinoma(29;7.07e-05)|STAD - Stomach adenocarcinoma(60;0.000118)|GBM - Glioblastoma multiforme(59;0.000472)|LUSC - Lung squamous cell carcinoma(40;0.00984)|READ - Rectum adenocarcinoma(43;0.0419)		ACAGGAGCCTCGCAGCAGTTG	0.498000														22			4		0	0	1	0	0
FAM186B	84070	broad.mit.edu	37	12	49994230	49994230	+	Missense_Mutation	SNP	C	T	T	rs150662932		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:49994230C>T	uc001ruo.3	-	3	1366	c.1193G>A	c.(1192-1194)cGc>cAc	p.R398H	FAM186B_uc010smk.2_Missense_Mutation_p.R308H	NM_032130	NP_115506	Q8IYM0	F186B_HUMAN	Homo sapiens family with sequence similarity 186, member B (FAM186B), transcript variant 1, mRNA.	398						protein complex				breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GACCCTCGAGCGCACAGTCAT	0.547000														30			21		0	0	1	0	0
GTSE1	51512	broad.mit.edu	37	22	46704226	46704226	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:46704226G>T	uc011aqy.2	+	3	360	c.148G>T	c.(148-150)Gat>Tat	p.D50Y	GTSE1_uc011aqz.2_5'UTR	NM_016426	NP_057510	Q9NYZ3	GTSE1_HUMAN	Homo sapiens G-2 and S-phase expressed 1 (GTSE1), mRNA.	31					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process	cytoplasmic microtubule				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		TGCAAATGAAGATGATGAAGT	0.393000														118			11		0.00829132	0.00860413	1	1	0
ZNF611	81856	broad.mit.edu	37	19	53209369	53209369	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:53209369T>C	uc002pzz.3	-	6	1256	c.939A>G	c.(937-939)aaA>aaG	p.K313K	ZNF611_uc010eqc.3_Silent_p.K243K|ZNF611_uc010ydo.2_Silent_p.K243K|ZNF611_uc010ydp.2_Silent_p.K313K|ZNF611_uc010ydq.2_Silent_p.K313K|ZNF611_uc010ydr.2_Silent_p.K244K|ZNF611_uc002qaa.4_Silent_p.K243K|ZNF611_uc021uyy.1_Silent_p.K244K	NM_030972	NP_001154973	Q8N823	ZN611_HUMAN	Homo sapiens zinc finger protein 611 (ZNF611), transcript variant 1, mRNA.	313					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)		AATTGTAACGTTTTACTCCAG	0.403000														115			7		0	0	1	0	0
RBFOX1	54715	broad.mit.edu	37	16	7568366	7568366	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:7568366C>T	uc002cys.2	+	4	1233	c.245C>T	c.(244-246)gCt>gTt	p.A82V	RBFOX1_uc010buf.1_Missense_Mutation_p.A82V|RBFOX1_uc002cyr.1_Missense_Mutation_p.A82V|RBFOX1_uc002cyt.2_Missense_Mutation_p.A82V|RBFOX1_uc010uxz.1_Missense_Mutation_p.A125V|RBFOX1_uc010uya.1_Missense_Mutation_p.A118V|RBFOX1_uc002cyv.1_Missense_Mutation_p.A82V|RBFOX1_uc010uyb.1_Missense_Mutation_p.A82V|RBFOX1_uc002cyw.2_Missense_Mutation_p.A102V|RBFOX1_uc002cyy.2_Missense_Mutation_p.A102V|RBFOX1_uc002cyx.2_Missense_Mutation_p.A102V|RBFOX1_uc010uyc.1_Missense_Mutation_p.A102V	NM_018723	NP_061193	Q9NWB1	RFOX1_HUMAN	Homo sapiens RNA binding protein, fox-1 homolog (C. elegans) 1 (RBFOX1), transcript variant 4, mRNA.	82					RNA splicing|RNA transport|mRNA processing	nucleus|trans-Golgi network	RNA binding|nucleotide binding|protein C-terminus binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						GACACGAGCGCTCAGACCGTC	0.657000														61			35		0	0	1	0	0
SOX5	6660	broad.mit.edu	37	12	23696281	23696281	+	Missense_Mutation	SNP	T	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:23696281T>A	uc001rfw.3	-	12	1737	c.1635A>T	c.(1633-1635)gaA>gaT	p.E545D	SOX5_uc001rfx.3_Missense_Mutation_p.E532D|SOX5_uc001rfy.3_Missense_Mutation_p.E424D|SOX5_uc001rfv.3_Missense_Mutation_p.E159D|SOX5_uc010siv.2_Missense_Mutation_p.E532D|SOX5_uc010siw.1_Non-coding_Transcript|SOX5_uc001rfz.1_Missense_Mutation_p.E497D	NM_006940	NP_694534	P35711	SOX5_HUMAN	Homo sapiens SRY (sex determining region Y)-box 5 (SOX5), transcript variant 1, mRNA.	545				E -> G (in Ref. 2; BAB85048).	transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.E545K(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						GCCCTCGGGATTCCCTATAAA	0.448000														89			6		0	0	1	0	0
LIN9	286826	broad.mit.edu	37	1	226474112	226474112	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:226474112G>T	uc001hqa.2	-	5	804	c.494C>A	c.(493-495)tCt>tAt	p.S165Y	LIN9_uc001hqb.2_Missense_Mutation_p.S130Y|LIN9_uc001hqc.3_Missense_Mutation_p.S97Y|LIN9_uc009xel.1_Missense_Mutation_p.S130Y	NM_173083	NP_775106	Q5TKA1	LIN9_HUMAN	Homo sapiens lin-9 homolog (C. elegans) (LIN9), mRNA.	149	Sufficient for interaction with RB1.				DNA replication|cell cycle	nucleoplasm				breast(3)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.131)		ATTAGGAAAAGATTCCTTTAG	0.313000														77			26		1.1804e-14	1.48086e-14	1	1	0
CDC23	8697	broad.mit.edu	37	5	137548861	137548861	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:137548861G>A	uc003lcl.3	-	0	172	c.141C>T	c.(139-141)ggC>ggT	p.G47G	CDC23_uc003lcm.1_Silent_p.G47G	NM_004661	NP_004652	Q9UJX2	CDC23_HUMAN	Homo sapiens cell division cycle 23 homolog (S. cerevisiae) (CDC23), mRNA.	47					G1 phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase plate congression|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of exit from mitosis	anaphase-promoting complex|cytosol|nucleoplasm	binding|ubiquitin-protein ligase activity			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(6)|prostate(2)|skin(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TGTGTAGTAGGCCCCGCTCCC	0.552000														73			36		0	0	1	0	0
KIAA1109	84162	broad.mit.edu	37	4	123160873	123160873	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:123160873T>C	uc003ieh.3	+	26	4081	c.4036T>C	c.(4036-4038)Tct>Cct	p.S1346P	KIAA1109_uc003iei.1_Missense_Mutation_p.S1099P|KIAA1109_uc010ins.1_Missense_Mutation_p.S689P|KIAA1109_uc003iek.2_5'UTR	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	Homo sapiens KIAA1109 (KIAA1109), mRNA.	1346					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TAGTGATGTCTCTCGAAGTGA	0.433000														74			5		0	0	1	0	0
KRTAP4-7	100132476	broad.mit.edu	37	17	39240752	39240752	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:39240752G>T	uc010wfn.2	+	0	294	c.294G>T	c.(292-294)caG>caT	p.Q98H		NM_033061	NP_149050			Homo sapiens keratin associated protein 4-7 (KRTAP4-7), mRNA.											NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						gcaagccccagtgctgccagt	0.682000														17			3		0.115264	0.116841	1	1	0
SLX4	84464	broad.mit.edu	37	16	3639670	3639670	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:3639670T>C	uc002cvp.2	-	11	4596	c.3969A>G	c.(3967-3969)tcA>tcG	p.S1323S		NM_032444	NP_115820	Q8IY92	SLX4_HUMAN	Homo sapiens SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae) (SLX4), mRNA.	1323	Interaction with PLK1 and TERF2-TERF2IP.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						GAGTGAGGCATGAGGACGGTG	0.637000								Direct reversal of damage						135			22		0	0	1	0	0
LGR6	59352	broad.mit.edu	37	1	202245467	202245467	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:202245467G>A	uc001gxu.3	+	4	462	c.462G>A	c.(460-462)ccG>ccA	p.P154P	LGR6_uc001gxv.3_Silent_p.P102P|LGR6_uc009xab.3_Non-coding_Transcript|LGR6_uc001gxw.3_Intron|LGR6_uc009xac.1_Non-coding_Transcript	NM_001017403	NP_001017403	Q9HBX8	LGR6_HUMAN	Homo sapiens leucine-rich repeat containing G protein-coupled receptor 6 (LGR6), transcript variant 1, mRNA.	154						integral to membrane|plasma membrane	protein-hormone receptor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						CCCTGGTCCCGGAGAGGAGCT	0.617000														54			29		0	0	1	0	0
PGM5	5239	broad.mit.edu	37	9	71114241	71114241	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:71114241C>T	uc004agr.3	+	9	1807	c.1578C>T	c.(1576-1578)taC>taT	p.Y526Y		NM_021965	NP_068800	Q15124	PGM5_HUMAN	Homo sapiens phosphoglucomutase 5 (PGM5), mRNA.	526					cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	Z disc|costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity			endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						CAGAGAGCTACGAGAGGGATC	0.577000														26			14		0	0	1	0	0
CBLB	868	broad.mit.edu	37	3	105389183	105389183	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:105389183A>G	uc003dwc.3	-	17	2905	c.2583T>C	c.(2581-2583)gaT>gaC	p.D861D	CBLB_uc003dwa.3_Silent_p.D76D|CBLB_uc011bhi.2_Silent_p.D839D	NM_170662	NP_733762	Q13191	CBLB_HUMAN	Homo sapiens Cas-Br-M (murine) ecotropic retroviral transforming sequence b (CBLB), mRNA.	861	Pro-rich.				NLS-bearing substrate import into nucleus|cell surface receptor linked signaling pathway	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						CACTTGCTAGATCAACAAAGG	0.343000			Mis S		AML									27			16		0	0	1	0	0
MST1	4485	broad.mit.edu	37	3	49721811	49721811	+	Missense_Mutation	SNP	C	T	T	rs138155786		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49721811C>T	uc003cxg.3	-	16	2024	c.1952G>A	c.(1951-1953)cGa>cAa	p.R651Q		NM_020998	NP_066278	P26927	HGFL_HUMAN	Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) (MST1), mRNA.	637	Peptidase S1.				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)		CACACGTCCTCGGTGCTTGAT	0.597000														56			4		0	0	1	0	0
TBC1D23	55773	broad.mit.edu	37	3	100015051	100015051	+	Nonsense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:100015051G>T	uc003dtt.3	+	7	985	c.808G>T	c.(808-810)Gaa>Taa	p.E270*	TBC1D23_uc003dts.3_Nonsense_Mutation_p.E270*	NM_001199198	NP_001186127	Q9NUY8	TBC23_HUMAN	Homo sapiens TBC1 domain family, member 23 (TBC1D23), transcript variant 1, mRNA.	270						intracellular	Rab GTPase activator activity			breast(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(10)|ovary(1)|prostate(2)|skin(2)	25						TCTGAATATAGAAGATATAGA	0.323000														57			26		2.70662e-09	3.21914e-09	1	1	0
MCAT	27349	broad.mit.edu	37	22	43529105	43529105	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:43529105C>T	uc003bdl.1	-	3	1166	c.1117G>A	c.(1117-1119)Gat>Aat	p.D373N	MCAT_uc003bdm.1_3'UTR	NM_173467	NP_775738	Q8IVS2	FABD_HUMAN	Homo sapiens malonyl CoA:ACP acyltransferase (mitochondrial) (MCAT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	373					fatty acid biosynthetic process	mitochondrion	[acyl-carrier-protein] S-malonyltransferase activity|binding			breast(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(1)	11		Ovarian(80;0.0694)				TGCAGCACATCCACGGCGCTG	0.617000														127			6		0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62286711	62286711	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:62286711C>T	uc001ntl.3	-	4	15478	c.15178G>A	c.(15178-15180)Gta>Ata	p.V5060I	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	5060					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TTGACATCTACATCCGGAGCC	0.453000														235			11		0	0	1	0	0
KCNQ5	56479	broad.mit.edu	37	6	73904319	73904319	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:73904319G>A	uc011dyh.2	+	14	2385	c.2038G>A	c.(2038-2040)Gtg>Atg	p.V680M	KCNQ5_uc011dyi.2_Missense_Mutation_p.V671M|KCNQ5_uc010kat.3_Missense_Mutation_p.V652M|KCNQ5_uc003pgk.3_Missense_Mutation_p.V661M|KCNQ5_uc011dyj.2_Missense_Mutation_p.V551M|KCNQ5_uc011dyk.2_Missense_Mutation_p.V411M	NM_001160133	NP_001153605	Q9NR82	KCNQ5_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 5 (KCNQ5), transcript variant 4, mRNA.	661					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		TCAAAGCCCTGTGGATAGCAA	0.502000														66			7		0	0	1	0	0
MRE11A	4361	broad.mit.edu	37	11	94224008	94224008	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:94224008C>A	uc009ywj.2	-	2	473	c.153G>T	c.(151-153)caG>caT	p.Q51H	MRE11A_uc001peu.2_Missense_Mutation_p.Q48H|MRE11A_uc001pev.2_Missense_Mutation_p.Q48H			P49959	MRE11_HUMAN	Homo sapiens MRE11 meiotic recombination 11 homolog A (S. cerevisiae) (MRE11A), transcript variant 1, mRNA.	48					DNA duplex unwinding|double-strand break repair via homologous recombination|double-strand break repair via nonhomologous end joining|negative regulation of DNA endoreduplication|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|sister chromatid cohesion|telomere maintenance via telomerase	Mre11 complex|nucleoplasm	3'-5' exonuclease activity|double-stranded DNA binding|manganese ion binding|protein C-terminus binding|single-stranded DNA specific endodeoxyribonuclease activity	p.E51K(1)		breast(5)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	29		Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824)				CTTCATTTTCCTGGGCAAGTC	0.333000								Homologous recombination	Ataxia-Telangiectasia-Like Disorder					78			35		1.03484e-13	1.28978e-13	1	1	0
LIMD1	8994	broad.mit.edu	37	3	45714235	45714235	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:45714235C>A	uc003coq.3	+	4	1744	c.1695C>A	c.(1693-1695)atC>atA	p.I565I		NM_014240	NP_055055	Q9UGP4	LIMD1_HUMAN	Homo sapiens LIM domains containing 1 (LIMD1), mRNA.	565	LIM zinc-binding 2.|Necessary for nuclear localization.				cytoplasmic mRNA processing body assembly|gene silencing by miRNA|multicellular organismal development|negative regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	RNA-induced silencing complex|cytoplasmic mRNA processing body|nucleus	protein binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.011)|KIRC - Kidney renal clear cell carcinoma(197;0.0264)|Kidney(197;0.0315)		GCTGTGTCATCTGTAATGAGT	0.527000														64			6		0.0215528	0.0220531	1	1	0
SFPQ	6421	broad.mit.edu	37	1	35654958	35654958	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:35654958C>T	uc001bys.3	-	4	1534	c.1441G>A	c.(1441-1443)Gcc>Acc	p.A481T		NM_005066	NP_005057	P23246	SFPQ_HUMAN	Homo sapiens splicing factor proline/glutamine-rich (SFPQ), mRNA.	481					DNA recombination|DNA repair|alternative nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|RNA binding|nucleotide binding|protein binding		SFPQ/TFE3(6)	NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				CCATGCTGGGCAAAACGAGGA	0.393000			T	TFE3	papillary renal cell									20			12		0	0	1	0	0
TMPRSS15	5651	broad.mit.edu	37	21	19653399	19653399	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:19653399C>T	uc002ykw.3	-	21	2657	c.2626G>A	c.(2626-2628)Gac>Aac	p.D876N		NM_002772	NP_002763	P98073	ENTK_HUMAN	Homo sapiens transmembrane protease, serine 15 (TMPRSS15), mRNA.	876	Peptidase S1.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						ATGGCAATGTCGTTGTCCTTT	0.343000														110			64		0	0	1	0	0
ZFYVE19	84936	broad.mit.edu	37	15	41105049	41105049	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:41105049C>A	uc001zmt.1	+	6	1493	c.979C>A	c.(979-981)Ctg>Atg	p.L327M	ZFYVE19_uc001zmu.1_Intron|ZFYVE19_uc001zmv.1_Missense_Mutation_p.L152M	NM_001077268	NP_001070736	Q96K21	ZFY19_HUMAN	Homo sapiens zinc finger, FYVE domain containing 19 (ZFYVE19), mRNA.	327							zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	9		all_cancers(109;3.31e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.76e-05)|COAD - Colon adenocarcinoma(120;0.151)|BRCA - Breast invasive adenocarcinoma(123;0.164)		GGAACGGATTCTGGCCCTGGC	0.622000														45			16		3.41278e-10	4.10877e-10	1	1	0
CLTC	1213	broad.mit.edu	37	17	57760372	57760372	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:57760372T>C	uc002ixr.1	+	23	4325	c.3882T>C	c.(3880-3882)taT>taC	p.Y1294Y	CLTC_uc002ixp.3_Silent_p.Y1290Y|CLTC_uc002ixq.1_Silent_p.Y1290Y	NM_004859	NP_004850	Q00610	CLH1_HUMAN	Homo sapiens clathrin, heavy chain (Hc) (CLTC), mRNA.	1290	Heavy chain arm.|Involved in binding clathrin light chain (By similarity).|Proximal segment.				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					TCAACTACTATCAGGTATTAA	0.368000			T	"""ALK, TFE3"""	"""ALCL, renal """									85			6		0	0	1	0	0
TGFBRAP1	9392	broad.mit.edu	37	2	105885808	105885808	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:105885808T>C	uc002tcq.3	-	10	2411	c.2327A>G	c.(2326-2328)gAc>gGc	p.D776G	TGFBRAP1_uc010fjc.3_Missense_Mutation_p.D545G|TGFBRAP1_uc002tcr.4_Missense_Mutation_p.D776G	NM_004257	NP_004248	Q8WUH2	TGFA1_HUMAN	Homo sapiens transforming growth factor, beta receptor associated protein 1 (TGFBRAP1), transcript variant 1, mRNA.	776					regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding			central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						ATGGATGCTGTCCCTCATGGC	0.602000														17			10		0	0	1	0	0
DAGLA	747	broad.mit.edu	37	11	61490361	61490361	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:61490361T>C	uc001nsa.3	+	3	454	c.338T>C	c.(337-339)aTc>aCc	p.I113T		NM_006133	NP_006124	Q9Y4D2	DGLA_HUMAN	Homo sapiens diacylglycerol lipase, alpha (DAGLA), mRNA.	113					cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		ATCTACGCCATCGTGGGCATC	0.602000														86			5		0	0	1	0	0
ZNF730	100129543	broad.mit.edu	37	19	23299882	23299882	+	RNA	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:23299882C>A	uc002nrb.1	+	0		c.106C>A								Synthetic construct DNA, clone: pF1KB7766, Homo sapiens ZNF730 gene for zinc finger protein 730, without stop codon, in Flexi system.											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|pancreas(1)|stomach(2)|urinary_tract(1)	16						GCTTTGTGTCCTCTGCACGTA	0.617000														27			9		0.0477658	0.0485825	1	1	0
MYH8	4626	broad.mit.edu	37	17	10304604	10304604	+	Missense_Mutation	SNP	C	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:10304604C>G	uc002gmm.2	-	23	3191	c.3096G>C	c.(3094-3096)caG>caC	p.Q1032H	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	1032					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CATCCACTTGCTGTTCTAGCT	0.378000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling					108			7		0	0	1	0	0
SYMPK	8189	broad.mit.edu	37	19	46345528	46345528	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:46345528G>A	uc002pdn.3	-	8	1312	c.1067C>T	c.(1066-1068)aCa>aTa	p.T356I	SYMPK_uc002pdo.1_Missense_Mutation_p.T356I|SYMPK_uc002pdp.1_Missense_Mutation_p.T356I|SYMPK_uc002pdq.2_Missense_Mutation_p.T356I	NM_004819	NP_004810	Q92797	SYMPK_HUMAN	Homo sapiens symplekin (SYMPK), mRNA.	356					cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		CTTCTTGAGTGTGGAGTCCGA	0.572000														46			24		0	0	1	0	0
ARHGAP26	23092	broad.mit.edu	37	5	142281518	142281518	+	Nonsense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:142281518G>T	uc011dbj.2	+	6	651	c.616G>T	c.(616-618)Gga>Tga	p.G206*	ARHGAP26_uc003lmt.3_Nonsense_Mutation_p.G206*|ARHGAP26_uc003lmw.3_Nonsense_Mutation_p.G206*	NM_015071	NP_055886	Q9UNA1	RHG26_HUMAN	Homo sapiens Rho GTPase activating protein 26 (ARHGAP26), transcript variant 1, mRNA.	206					actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction	cytoskeleton|cytosol|focal adhesion	Rho GTPase activator activity|SH3 domain binding|cytoskeletal adaptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTTCCTGCAAGGACTCTTCAC	0.458000														59			7		8.12818e-05	8.84769e-05	1	1	0
SLC9C1	285335	broad.mit.edu	37	3	111888171	111888171	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:111888171C>T	uc003dyu.3	-	23	3146	c.2924G>A	c.(2923-2925)tGt>tAt	p.C975Y	SLC9C1_uc011bhu.2_Missense_Mutation_p.C238Y|SLC9C1_uc010hqc.3_Missense_Mutation_p.C927Y	NM_183061	NP_898884	Q4G0N8	S9A10_HUMAN	Homo sapiens solute carrier family 9, member 10 (SLC9A10), mRNA.	975					cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity										GGGAATAAAACATGTCTGGAA	0.308000														27			22		0	0	1	0	0
CABIN1	23523	broad.mit.edu	37	22	24458474	24458474	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:24458474G>A	uc002zzi.1	+	12	1809	c.1682G>A	c.(1681-1683)gGc>gAc	p.G561D	CABIN1_uc021wnc.1_Missense_Mutation_p.G511D|CABIN1_uc002zzj.1_Missense_Mutation_p.G511D|CABIN1_uc002zzl.2_Missense_Mutation_p.G561D	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN	Homo sapiens calcineurin binding protein 1 (CABIN1), transcript variant 2, mRNA.	561					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						CTGACCAAAGGCAGAAGCTCT	0.542000														25			13		0	0	1	0	0
ART5	116969	broad.mit.edu	37	11	3660958	3660958	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:3660958C>A	uc001lyb.1	-	1	1094	c.701G>T	c.(700-702)aGa>aTa	p.R234I	ART5_uc001lyc.1_Missense_Mutation_p.R234I|ART5_uc001lyd.3_Intron|ART5_uc009yea.3_Intron	NM_053017	NP_443750	Q96L15	NAR5_HUMAN	Homo sapiens ADP-ribosyltransferase 5 (ART5), transcript variant 1, mRNA.	234						extracellular region	NAD(P)+-protein-arginine ADP-ribosyltransferase activity			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1)	11		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0336)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTGAGAGAATCTGGTAACCAA	0.512000														122			11		0.00010058	0.000109296	1	1	0
FMO1	2326	broad.mit.edu	37	1	171251226	171251226	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:171251226T>G	uc009wvz.3	+	6	1073	c.937T>G	c.(937-939)Ttt>Gtt	p.F313V	FMO1_uc010pme.2_Missense_Mutation_p.F250V|FMO1_uc001ghl.3_Missense_Mutation_p.F313V|FMO1_uc001ghm.3_Missense_Mutation_p.F313V	NM_002021	NP_002012	Q01740	FMO1_HUMAN	Homo sapiens flavin containing monooxygenase 1 (FMO1), mRNA.	313					NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	NADP binding|flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CTCTGTCATATTTAACAATAC	0.408000														63			17		0	0	1	0	0
LRRK2	120892	broad.mit.edu	37	12	40688680	40688680	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:40688680C>T	uc001rmg.4	+	21	2963	c.2842C>T	c.(2842-2844)Cga>Tga	p.R948*	LRRK2_uc001rmh.1_Nonsense_Mutation_p.R570*|LRRK2_uc009zjw.3_5'Flank	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	Homo sapiens leucine-rich repeat kinase 2 (LRRK2), mRNA.	948					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TTTACTGAAGCGAAAAAGAAA	0.284000														19			6		0	0	1	0	0
ARID1B	57492	broad.mit.edu	37	6	157256605	157256605	+	Missense_Mutation	SNP	G	A	A	rs142897795		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:157256605G>A	uc003qqp.3	+	3	1893	c.1893G>A	c.(1891-1893)atG>atA	p.M631I	ARID1B_uc003qqo.3_Missense_Mutation_p.M644I|ARID1B_uc003qqn.3_Missense_Mutation_p.M631I|ARID1B_uc003qqq.1_Missense_Mutation_p.M1I	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN	Homo sapiens AT rich interactive domain 1B (SWI1-like) (ARID1B), transcript variant 1, mRNA.	631	Gln-rich.				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		TTTAGGACATGTCTCAGGAAG	0.383000														60			14		0	0	1	0	0
MET	4233	broad.mit.edu	37	7	116418857	116418857	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:116418857A>G	uc003vij.3	+	16	3555	c.3368A>G	c.(3367-3369)cAa>cGa	p.Q1123R	MET_uc010lkh.3_Missense_Mutation_p.Q1141R|MET_uc011knj.2_Missense_Mutation_p.Q693R	NM_000245	NP_000236	P08581	MET_HUMAN	Homo sapiens met proto-oncogene (hepatocyte growth factor receptor) (MET), transcript variant 2, mRNA.	1123	Protein kinase.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			GAAGTTTCCCAATTTCTGACC	0.438000			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)					57			7		0	0	1	0	0
WAC	51322	broad.mit.edu	37	10	28903584	28903584	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:28903584C>A	uc001iuf.3	+	10	1614	c.1526C>A	c.(1525-1527)cCt>cAt	p.P509H	WAC_uc001iud.3_Missense_Mutation_p.P464H|WAC_uc001iue.3_Missense_Mutation_p.P199H|WAC_uc001iug.3_Missense_Mutation_p.P406H|WAC_uc001iuh.3_Missense_Mutation_p.P461H	NM_016628	NP_057712	Q9BTA9	WAC_HUMAN	Homo sapiens WW domain containing adaptor with coiled-coil (WAC), transcript variant 1, mRNA.	509					cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nuclear speck	RNA polymerase II core binding|chromatin binding			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						GGTCATGAACCTGTCTCTCCT	0.423000														56			5		0.00116845	0.00123466	1	1	0
USP16	10600	broad.mit.edu	37	21	30426427	30426427	+	Silent	SNP	C	T	T	rs146396744		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:30426427C>T	uc002ymy.3	+	17	2593	c.2391C>T	c.(2389-2391)agC>agT	p.S797S	USP16_uc002ymx.3_Silent_p.S796S|USP16_uc002ymw.3_Silent_p.S797S|USP16_uc011acm.2_Silent_p.S782S|USP16_uc011acn.2_Silent_p.S463S|USP16_uc011aco.2_Silent_p.S487S	NM_006447	NP_006438	Q9Y5T5	UBP16_HUMAN	Homo sapiens ubiquitin specific peptidase 16 (USP16), transcript variant 1, mRNA.	797					cell division|histone deubiquitination|mitosis|positive regulation of transcription, DNA-dependent|protein homotetramerization|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|histone binding|transcription coactivator activity|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(2)	34						TTCACATCAGCGACACACATG	0.338000														52			24		0	0	1	0	0
BRD2	6046	broad.mit.edu	37	6	32947864	32947864	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:32947864C>T	uc010juh.3	+	10	3510	c.2206C>T	c.(2206-2208)Cgc>Tgc	p.R736C	BRD2_uc003ocn.4_Missense_Mutation_p.R701C|BRD2_uc003ocp.4_Missense_Mutation_p.R581C|BRD2_uc003ocq.4_Missense_Mutation_p.R701C|BRD2_uc021ywf.1_Missense_Mutation_p.R654C	NM_001199455	NP_001186384	P25440	BRD2_HUMAN	Homo sapiens bromodomain containing 2 (BRD2), transcript variant 3, mRNA.	701	ET.				spermatogenesis	nucleus	protein serine/threonine kinase activity			central_nervous_system(3)|stomach(2)	5						AGAGCTTGAGCGCTATGTCCT	0.458000														33			17		0	0	1	0	0
SHBG	6462	broad.mit.edu	37	17	7536134	7536134	+	Missense_Mutation	SNP	T	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7536134T>A	uc002gie.2	+	6	955	c.917T>A	c.(916-918)cTt>cAt	p.L306H	SHBG_uc010cmu.2_Intron|SHBG_uc010cmo.2_Missense_Mutation_p.L194H|SHBG_uc010cmp.2_Intron|SHBG_uc010cmq.2_Intron|SHBG_uc010cmr.2_Intron|SHBG_uc010cms.2_Intron|SHBG_uc010cmt.2_Missense_Mutation_p.L248H|SHBG_uc010cmz.2_Intron|SHBG_uc010cmv.2_Intron|SHBG_uc010cmw.2_Intron|SHBG_uc010cmx.2_Intron|SHBG_uc010cmy.2_Missense_Mutation_p.L248H|SHBG_uc002gid.3_Intron|SHBG_uc010cnd.2_Intron|SHBG_uc010cna.2_Intron|SHBG_uc010vue.1_Missense_Mutation_p.L288H|SHBG_uc010vuf.1_Intron|SHBG_uc010cnb.2_Intron|SHBG_uc010cnc.2_Intron	NM_001040	NP_001031	P04278	SHBG_HUMAN	Homo sapiens sex hormone-binding globulin (SHBG), transcript variant 1, mRNA.	306	Laminin G-like 2.				hormone transport	extracellular region	androgen binding|protein homodimerization activity	p.0?(1)|p.?(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1)	10		all_cancers(10;0.0867)		READ - Rectum adenocarcinoma(115;0.168)	Danazol(DB01406)|Dromostanolone(DB00858)|Estradiol(DB00783)|Estrone(DB00655)|Fluoxymesterone(DB01185)|Hydrocortisone(DB00741)|Mitotane(DB00648)|Norethindrone(DB00717)|Testosterone(DB00624)	GGACTCCCTCTTCAGCTGAAG	0.597000											OREG0024140	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		47			22		0	0	1	0	0
ATP2B3	492	broad.mit.edu	37	X	152806914	152806914	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:152806914G>A	uc004fht.1	+	1	432	c.306G>A	c.(304-306)gtG>gtA	p.V102V	ATP2B3_uc004fhs.1_Silent_p.V102V	NM_001001344	NP_001001344	Q16720	AT2B3_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 3 (ATP2B3), transcript variant 2, mRNA.	102					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGCAGCTGGTGTGGGAGGCCC	0.612000														37			17		0	0	1	0	0
DPH2	1802	broad.mit.edu	37	1	44437630	44437630	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:44437630T>C	uc001ckz.3	+	3	1251	c.1056T>C	c.(1054-1056)ggT>ggC	p.G352G	DPH2_uc001cla.3_Intron|DPH2_uc010okk.2_Silent_p.G217G|DPH2_uc001clb.3_Silent_p.G276G|ATP6V0B_uc001cld.3_5'Flank|ATP6V0B_uc001cle.3_5'Flank	NM_001384	NP_001375	Q9BQC3	DPH2_HUMAN	Homo sapiens DPH2 homolog (S. cerevisiae) (DPH2), transcript variant 1, mRNA.	352					peptidyl-diphthamide biosynthetic process from peptidyl-histidine	cytoplasm				autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(2)|skin(1)	19	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)				AGCTTTCTGGTAGCTTCTTCC	0.607000														64			8		0	0	1	0	0
ANKRD17	26057	broad.mit.edu	37	4	73964217	73964217	+	Nonsense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:73964217C>A	uc003hgp.3	-	25	4711	c.4594G>T	c.(4594-4596)Gaa>Taa	p.E1532*	ANKRD17_uc003hgo.3_Nonsense_Mutation_p.E1419*|ANKRD17_uc003hgq.3_Nonsense_Mutation_p.E1281*|ANKRD17_uc003hgr.3_Nonsense_Mutation_p.E1531*	NM_032217	NP_115593	O75179	ANR17_HUMAN	Homo sapiens ankyrin repeat domain 17 (ANKRD17), transcript variant 1, mRNA.	1532					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CTTGGAGGTTCTGTCAAGACT	0.383000														60			8		0.00448238	0.0046769	1	1	0
SCIN	85477	broad.mit.edu	37	7	12680116	12680116	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:12680116C>T	uc003ssn.4	+	10	1765	c.1555C>T	c.(1555-1557)Ctg>Ttg	p.L519L	SCIN_uc010ktt.3_Non-coding_Transcript|SCIN_uc003sso.4_Silent_p.L272L	NM_001112706	NP_149119	Q9Y6U3	ADSV_HUMAN	Homo sapiens scinderin (SCIN), transcript variant 1, mRNA.	519	Ca(2+)-dependent actin binding.				actin filament capping|actin filament severing|actin nucleation|calcium ion-dependent exocytosis|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of megakaryocyte differentiation|positive regulation of secretion|regulation of chondrocyte differentiation	cell cortex|cytoskeleton	1-phosphatidylinositol binding|actin filament binding|calcium ion binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	17				UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		CCGGAGAAACCTGGCATCTAT	0.448000														7			15		0	0	1	0	0
CTNNA3	29119	broad.mit.edu	37	10	68139106	68139106	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:68139106G>A	uc009xpn.1	-	11	1659	c.1536C>T	c.(1534-1536)agC>agT	p.S512S	CTNNA3_uc001jmw.2_Silent_p.S512S	NM_001127384	NP_037398	Q9UI47	CTNA3_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 3 (CTNNA3), transcript variant 2, mRNA.	512					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						CCAAGATATGGCTTTCTGTAA	0.378000														40			4		0	0	1	0	0
GRASP	160622	broad.mit.edu	37	12	52407473	52407473	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:52407473G>A	uc001rzo.1	+	4	513	c.457G>A	c.(457-459)Gac>Aac	p.D153N	GRASP_uc001rzp.1_Missense_Mutation_p.D10N	NM_181711	NP_859062	Q7Z6J2	GRASP_HUMAN	Homo sapiens GRP1 (general receptor for phosphoinositides 1)-associated scaffold protein (GRASP), mRNA.	153	PDZ.					cell junction|perinuclear region of cytoplasm|postsynaptic membrane				central_nervous_system(1)|large_intestine(1)|lung(1)|skin(2)	5				BRCA - Breast invasive adenocarcinoma(357;0.0967)		CCTGGCAGGGGACACCATCGC	0.537000														18			18		0	0	1	0	0
IGSF3	3321	broad.mit.edu	37	1	117150586	117150586	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:117150586G>A	uc001egq.1	-	4	1905	c.1200C>T	c.(1198-1200)atC>atT	p.I400I	IGSF3_uc001egr.1_Silent_p.I400I|IGSF3_uc001egs.1_Silent_p.I73I	NM_001542	NP_001533	O75054	IGSF3_HUMAN	Homo sapiens immunoglobulin superfamily, member 3 (IGSF3), transcript variant 1, mRNA.	400						integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		CTATGATGGGGATGTTCTTGG	0.512000														100			6		0	0	1	0	0
CIZ1	25792	broad.mit.edu	37	9	130941595	130941595	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:130941595G>T	uc011mas.2	-	7	1146	c.981C>A	c.(979-981)gaC>gaA	p.D327E	CIZ1_uc004btr.3_Missense_Mutation_p.D297E|CIZ1_uc004bts.3_Missense_Mutation_p.D268E|CIZ1_uc011maq.2_Missense_Mutation_p.D292E|CIZ1_uc004btu.3_Missense_Mutation_p.D273E|CIZ1_uc004btt.3_Missense_Mutation_p.D297E|CIZ1_uc011mar.2_Missense_Mutation_p.D196E|CIZ1_uc004btw.3_Missense_Mutation_p.D297E|CIZ1_uc004btv.3_Missense_Mutation_p.D297E|CIZ1_uc004btx.2_Missense_Mutation_p.D273E	NM_012127	NP_036259	Q9ULV3	CIZ1_HUMAN	Homo sapiens CDKN1A interacting zinc finger protein 1 (CIZ1), transcript variant 1, mRNA.	297	Gln-rich.					nucleus	nucleic acid binding|protein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|liver(1)|lung(9)|ovary(3)|prostate(2)|urinary_tract(2)	35						CAGGCAGCAGGTCTGGTGTCT	0.627000														47			34		1.836e-18	2.35332e-18	1	1	0
XIST	7503	broad.mit.edu	37	X	73063002	73063002	+	RNA	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:73063002G>T	uc004ebm.1	-	0		c.9587C>A								Homo sapiens X (inactive)-specific transcript (non-protein coding) (XIST), non-coding RNA.																		AGTCCCAGGAGAAGTTTTGAG	0.468000														35			16		2.31682e-05	2.55671e-05	1	1	0
ZNF559	84527	broad.mit.edu	37	19	9453292	9453292	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9453292G>A	uc002mle.4	+	5	1764	c.1357G>A	c.(1357-1359)Gcc>Acc	p.A453T	ZNF559_uc002mld.3_3'UTR|ZNF559_uc021uoj.1_Missense_Mutation_p.A347T|ZNF559_uc010xkn.2_Missense_Mutation_p.A381T|ZNF559_uc021uok.1_Missense_Mutation_p.A389T|ZNF559_uc021uol.1_3'UTR|ZNF559_uc010dwk.2_3'UTR|ZNF559_uc002mlf.3_3'UTR|ZNF559_uc010dwl.2_3'UTR|ZNF559_uc021uom.1_3'UTR|ZNF177_uc002mli.3_Intron|ZNF177_uc002mlj.3_Intron	NM_001202406	NP_001189335	Q9BR84	ZN559_HUMAN	Homo sapiens zinc finger protein 559 (ZNF559), transcript variant 1, mRNA.	389					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|large_intestine(7)|lung(15)|ovary(1)|urinary_tract(1)	26						ATGTGGAAAAGCCTTTATTAA	0.403000														51			30		0	0	1	0	0
KIAA0753	9851	broad.mit.edu	37	17	6515458	6515458	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:6515458C>T	uc002gde.4	-	7	1685	c.1326G>A	c.(1324-1326)caG>caA	p.Q442Q	KIAA0753_uc010vtd.2_Intron|KIAA0753_uc010clo.3_Silent_p.Q143Q|KIAA0753_uc010vte.2_Silent_p.Q143Q	NM_014804	NP_055619	Q2KHM9	K0753_HUMAN	Homo sapiens KIAA0753 (KIAA0753), mRNA.	442						centrosome				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24				COAD - Colon adenocarcinoma(228;0.157)		CCGTATCGGGCTGATACTTAT	0.393000														31			14		0	0	1	0	0
CSPG4	1464	broad.mit.edu	37	15	75975062	75975062	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:75975062G>A	uc002baw.3	-	6	4762	c.4669C>T	c.(4669-4671)Cgc>Tgc	p.R1557C		NM_001897	NP_001888	Q6UVK1	CSPG4_HUMAN	Homo sapiens chondroitin sulfate proteoglycan 4 (CSPG4), mRNA.	1557	Gly/Ser-rich (glycosaminoglycan attachment domain).			R -> P (in Ref. 1; CAA65529).	angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						AGGCGGAAGCGGAAGCCTCCA	0.667000														28			8		0	0	1	0	0
RBM6	10180	broad.mit.edu	37	3	50005101	50005101	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:50005101G>A	uc003cyc.3	+	2	491	c.243G>A	c.(241-243)ccG>ccA	p.P81P	RBM6_uc011bdh.2_Non-coding_Transcript|RBM6_uc010hlc.2_Intron|RBM6_uc003cyd.3_Intron|RBM6_uc011bdi.2_Intron|RBM6_uc003cye.3_Intron|RBM6_uc010hlf.2_Intron|RBM6_uc010hld.2_Intron|RBM6_uc010hle.2_Intron	NM_005777	NP_001161054	P78332	RBM6_HUMAN	Homo sapiens RNA binding motif protein 6 (RBM6), transcript variant 1, mRNA.	81					RNA processing	nucleus	DNA binding|RNA binding|nucleotide binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		GAGACGGACCGCATGGTGACT	0.507000														65			56		0	0	1	0	0
BRWD1	54014	broad.mit.edu	37	21	40630542	40630542	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:40630542G>A	uc002yxk.2	-	17	2237	c.1942C>T	c.(1942-1944)Cgc>Tgc	p.R648C	BRWD1_uc010goc.1_5'UTR|BRWD1_uc021wjf.1_Missense_Mutation_p.R648C|BRWD1_uc010goe.1_Non-coding_Transcript|BRWD1_uc010gof.1_Missense_Mutation_p.R101C|BRWD1_uc010gog.1_Non-coding_Transcript|BRWD1_uc010goh.1_Non-coding_Transcript|BRWD1_uc010goi.1_Missense_Mutation_p.R368C	NM_018963	NP_061836	Q9NSI6	BRWD1_HUMAN	Homo sapiens bromodomain and WD repeat domain containing 1 (BRWD1), transcript variant 1, mRNA.	648					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				TCTGGGCTGCGTTCATCATTA	0.368000														78			52		0	0	1	0	0
LMTK2	22853	broad.mit.edu	37	7	97833470	97833470	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:97833470C>A	uc003upd.2	+	12	4748	c.4455C>A	c.(4453-4455)caC>caA	p.H1485Q		NM_014916	NP_055731	Q8IWU2	LMTK2_HUMAN	Homo sapiens lemur tyrosine kinase 2 (LMTK2), mRNA.	1485				Missing (in Ref. 2; BAA83031).	early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	Golgi apparatus|early endosome|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					CCCTCACACACCTGACCGACT	0.682000														45			49		1.51926e-22	1.97382e-22	1	1	0
KIAA1324	57535	broad.mit.edu	37	1	109707189	109707189	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:109707189C>T	uc021orb.1	+	2	564	c.343C>T	c.(343-345)Cgc>Tgc	p.R115C	KIAA1324_uc009wex.2_Missense_Mutation_p.R115C|KIAA1324_uc010ovg.2_Missense_Mutation_p.R13C|KIAA1324_uc009wey.3_Missense_Mutation_p.R115C	NM_020775	NP_065826	Q6UXG2	K1324_HUMAN	Homo sapiens KIAA1324 (KIAA1324), mRNA.	115					macroautophagy|positive regulation of vacuole organization|regulation of apoptosis	integral to plasma membrane				NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		CGCTGAGGGCCGCTACTCCCT	0.587000														114			8		0	0	1	0	0
ANKRD50	57182	broad.mit.edu	37	4	125591022	125591022	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:125591022C>T	uc010inw.3	-	3	4448	c.3410G>A	c.(3409-3411)aGc>aAc	p.S1137N	ANKRD50_uc011cgo.2_Missense_Mutation_p.S958N	NM_020337	NP_001161354	Q9ULJ7	ANR50_HUMAN	Homo sapiens ankyrin repeat domain 50 (ANKRD50), transcript variant 1, mRNA.	1137	Ser-rich.									NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						ACTACCAGAGCTATTTGATTT	0.423000														116			58		0	0	1	0	0
ZNF764	92595	broad.mit.edu	37	16	30567320	30567320	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:30567320G>A	uc002dyq.3	-	2	561	c.422C>T	c.(421-423)tCg>tTg	p.S141L	ZNF764_uc002dyr.2_Missense_Mutation_p.S140L	NM_033410	NP_219363	Q96H86	ZN764_HUMAN	Homo sapiens zinc finger protein 764 (ZNF764), transcript variant 1, mRNA.	141					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S141L(2)		kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7						GGGCCCGGCCGAGGGGGCTTG	0.677000														22			14		0	0	1	0	0
C5orf54	63920	broad.mit.edu	37	5	159821798	159821798	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:159821798G>T	uc003lye.1	-	1	1164	c.700C>A	c.(700-702)Ctt>Att	p.L234I	C5orf54_uc003lyf.1_Missense_Mutation_p.L234I|C5orf54_uc021yhc.1_Missense_Mutation_p.L234I	NM_022090	NP_071373	Q8IZ13	CE054_HUMAN	Homo sapiens chromosome 5 open reading frame 54 (C5orf54), mRNA.	234										breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	12						catacatcaagtgctatctta	0.403000														95			7		0.00307968	0.00322291	1	1	0
CCDC90B	60492	broad.mit.edu	37	11	82991211	82991211	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:82991211C>T	uc001pae.3	-	1	555	c.193G>A	c.(193-195)Gca>Aca	p.A65T	CCDC90B_uc001pac.3_5'UTR|CCDC90B_uc001pad.3_5'UTR|CCDC90B_uc001paf.3_Missense_Mutation_p.A56T	NM_021825	NP_068597	Q9GZT6	CC90B_HUMAN	Homo sapiens coiled-coil domain containing 90B (CCDC90B), mRNA.	65						integral to membrane|mitochondrion				kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10		Acute lymphoblastic leukemia(157;0.103)				TGAACCAATGCATGGGTATCA	0.388000														112			10		0	0	1	0	0
MARC2	54996	broad.mit.edu	37	1	220928369	220928369	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:220928369A>G	uc001hmq.3	+	1	551	c.353A>G	c.(352-354)tAt>tGt	p.Y118C	MARC2_uc001hmr.3_Missense_Mutation_p.Y118C|MARC2_uc009xdx.3_Missense_Mutation_p.Y118C	NM_017898	NP_060368	Q969Z3	MOSC2_HUMAN	Homo sapiens mitochondrial amidoxime reducing component 2 (MARC2), nuclear gene encoding mitochondrial protein, mRNA.	118						mitochondrial outer membrane|peroxisome	molybdenum ion binding|oxidoreductase activity|pyridoxal phosphate binding										TCCATCATTTATGAGAATAAC	0.512000														132			9		0	0	1	0	0
OR51M1	390059	broad.mit.edu	37	11	5410781	5410781	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:5410781C>A	uc010qzc.2	+	0	175	c.153C>A	c.(151-153)atC>atA	p.I51I	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001004756	NP_001004756	B2RNI9	B2RNI9_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily M, member 1 (OR51M1), mRNA.	51						integral to membrane	olfactory receptor activity	p.A50S(1)		NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGTTGCCATCTCAGGCAATT	0.453000														117			7		0.000157383	0.000170012	1	1	0
SLC35F2	54733	broad.mit.edu	37	11	107673881	107673881	+	Splice_Site	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:107673881G>A	uc001pjq.3	-	7	1206	c.785_splice	c.e7-1	p.A262_splice	SLC35F2_uc010rvu.2_Splice_Site_p.A114_splice	NM_017515	NP_059985	Q8IXU6	S35F2_HUMAN	Homo sapiens solute carrier family 35, member F2 (SLC35F2), mRNA.	262					transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(61;9.46e-06)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;0.000111)|all_hematologic(158;0.000315)|all_epithelial(67;0.00197)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)|Epithelial(105;0.000105)|all cancers(92;0.00217)		GAACAGCAGGGCTGTGGAAAA	0.428000														19			6		0	0	1	0	0
GEN1	348654	broad.mit.edu	37	2	17946267	17946267	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:17946267G>A	uc002rct.2	+	3	525	c.452G>A	c.(451-453)tGc>tAc	p.C151Y	SMC6_uc010exo.3_Intron|GEN1_uc010yjs.1_Missense_Mutation_p.C151Y|GEN1_uc002rcu.2_Missense_Mutation_p.C151Y	NM_182625	NP_872431	Q17RS7	GEN_HUMAN	Homo sapiens Gen endonuclease homolog 1 (Drosophila) (GEN1), transcript variant 1, mRNA.	151	I-domain.				DNA repair	nucleus	DNA binding|endonuclease activity|metal ion binding			breast(6)|central_nervous_system(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GTCGATGGCTGCCTCACCAAT	0.458000								Homologous recombination						62			39		0	0	1	0	0
IL1R2	7850	broad.mit.edu	37	2	102626164	102626164	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:102626164C>T	uc002tbm.3	+	2	437	c.208C>T	c.(208-210)Cat>Tat	p.H70Y	IL1R2_uc002tbn.3_Missense_Mutation_p.H70Y|IL1R2_uc002tbo.1_Missense_Mutation_p.H70Y	NM_004633	NP_775465	P27930	IL1R2_HUMAN	Homo sapiens interleukin 1 receptor, type II (IL1R2), transcript variant 1, mRNA.	70	Ig-like C2-type 1.				immune response	integral to membrane|plasma membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28					Anakinra(DB00026)	CCTGACATGGCATAAAAATGA	0.617000														130			89		0	0	1	0	0
ARHGEF10L	55160	broad.mit.edu	37	1	17942691	17942691	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:17942691G>A	uc001ban.3	+	8	988	c.829G>A	c.(829-831)Gtc>Atc	p.V277I	ARHGEF10L_uc009vpe.1_Missense_Mutation_p.V238I|ARHGEF10L_uc001bao.3_Missense_Mutation_p.V238I|ARHGEF10L_uc001bap.3_Missense_Mutation_p.V238I|ARHGEF10L_uc010ocr.1_Missense_Mutation_p.V35I|ARHGEF10L_uc001baq.3_Missense_Mutation_p.V43I|ARHGEF10L_uc010ocs.2_5'Flank|ARHGEF10L_uc001bar.3_5'Flank	NM_018125	NP_060595	Q9HCE6	ARGAL_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 10-like (ARHGEF10L), transcript variant 1, mRNA.	277					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		CAGGAAGGACGTCCTCGGTGA	0.637000														53			6		0	0	1	0	0
TRPM1	4308	broad.mit.edu	37	15	31355430	31355430	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:31355430C>T	uc021sia.1	-	6	1221	c.907G>A	c.(907-909)Gtc>Atc	p.V303I	TRPM1_uc010azy.3_Missense_Mutation_p.V177I|TRPM1_uc001zfl.3_Non-coding_Transcript|TRPM1_uc021shz.1_Missense_Mutation_p.V286I|TRPM1_uc001zfm.3_Missense_Mutation_p.V264I	NM_001252020	NP_001238949	Q7Z4N2	TRPM1_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 1 (TRPM1), transcript variant 1, mRNA.	264					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		TATTCCAAGACGATGGACACC	0.592000														64			24		0	0	1	0	0
IBTK	25998	broad.mit.edu	37	6	82925825	82925825	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:82925825G>T	uc003pjl.1	-	10	2096	c.1569C>A	c.(1567-1569)aaC>aaA	p.N523K	IBTK_uc011dyv.1_Missense_Mutation_p.N523K|IBTK_uc011dyw.1_Missense_Mutation_p.N523K|IBTK_uc010kbi.1_Missense_Mutation_p.N217K|IBTK_uc003pjm.2_Missense_Mutation_p.N523K	NM_015525	NP_056340	Q9P2D0	IBTK_HUMAN	Homo sapiens inhibitor of Bruton agammaglobulinemia tyrosine kinase (IBTK), mRNA.	523					negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity			central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		GGATTGCAAAGTTGCATCCAC	0.338000														45			19		1.64293e-13	2.04531e-13	1	1	0
VPS52	6293	broad.mit.edu	37	6	33219411	33219411	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:33219411G>A	uc003odm.1	-	18	2119	c.1909C>T	c.(1909-1911)Cgg>Tgg	p.R637W	HCG25_uc021ywj.1_Non-coding_Transcript|VPS52_uc003odn.1_Missense_Mutation_p.R448W	NM_022553	NP_072047	Q8N1B4	VPS52_HUMAN	Homo sapiens vacuolar protein sorting 52 homolog (S. cerevisiae) (VPS52), mRNA.	637					protein transport	Golgi apparatus|endosome membrane		p.R637W(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						TGAGTTACCCGGGCTAATAGC	0.478000														37			18		0	0	1	0	0
PPP2R4	5524	broad.mit.edu	37	9	131898769	131898769	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:131898769A>G	uc004bxm.2	+	7	972	c.685A>G	c.(685-687)Aaa>Gaa	p.K229E	PPP2R4_uc004bxl.2_Missense_Mutation_p.K194E|PPP2R4_uc011mbo.2_Missense_Mutation_p.K229E|PPP2R4_uc010myr.2_Intron|PPP2R4_uc004bxn.2_Missense_Mutation_p.K194E|PPP2R4_uc004bxo.2_Missense_Mutation_p.K152E|PPP2R4_uc011mbp.2_Missense_Mutation_p.K165E|PPP2R4_uc011mbq.1_Missense_Mutation_p.K152E|PPP2R4_uc010mys.2_Missense_Mutation_p.K159E|PPP2R4_uc011mbr.1_5'Flank	NM_178001	NP_821068	Q15257	PTPA_HUMAN	Homo sapiens protein phosphatase 2A activator, regulatory subunit 4 (PPP2R4), transcript variant 1, mRNA.	229					ATP catabolic process|negative regulation of phosphoprotein phosphatase activity|negative regulation of protein dephosphorylation|positive regulation of apoptosis|positive regulation of phosphoprotein phosphatase activity|positive regulation of protein dephosphorylation	calcium channel complex|cytoplasm|nucleus|protein phosphatase type 2A complex|soluble fraction	ATP binding|peptidyl-prolyl cis-trans isomerase activity|protein heterodimerization activity|protein homodimerization activity|protein phosphatase 2A binding|protein phosphatase type 2A regulator activity|protein tyrosine phosphatase activator activity|receptor binding			breast(3)|endometrium(1)|kidney(1)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	12		Medulloblastoma(224;0.235)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)		GGTTATGCGGAAACTCCAGAA	0.542000														168			96		0	0	1	0	0
CRNKL1	51340	broad.mit.edu	37	20	20030056	20030056	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:20030056C>A	uc002wrs.3	-	3	739	c.707G>T	c.(706-708)aGa>aTa	p.R236I	CRNKL1_uc002wrt.1_Missense_Mutation_p.R224I	NM_016652	NP_057736	Q9BZJ0	CRNL1_HUMAN	Homo sapiens crooked neck pre-mRNA splicing factor-like 1 (Drosophila) (CRNKL1), mRNA.	236					spliceosome assembly	catalytic step 2 spliceosome|cytoplasm|nuclear speck	RNA binding			breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						CCTGTTTTTTCTTATATTATC	0.343000														22			13		4.36969e-10	5.24943e-10	1	1	0
FAM48B1	100130302	broad.mit.edu	37	X	24382268	24382268	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:24382268G>A	uc011mjx.2	+	0	1391	c.1391G>A	c.(1390-1392)cGc>cAc	p.R464H		NM_001136234	NP_001129706			Homo sapiens family with sequence similarity 48, member B1 (FAM48B1), mRNA.									p.S464L(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(1)|skin(1)	26						CCACCTCCCCGCACCCAACTT	0.527000														15			7		0	0	1	0	0
KRIT1	889	broad.mit.edu	37	7	91852280	91852280	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:91852280G>A	uc003ulr.1	-	12	2159	c.1267C>T	c.(1267-1269)Cga>Tga	p.R423*	KRIT1_uc010lev.1_Nonsense_Mutation_p.R180*|KRIT1_uc003ulq.1_Nonsense_Mutation_p.R423*|KRIT1_uc003uls.1_Nonsense_Mutation_p.R423*|KRIT1_uc003ult.1_Nonsense_Mutation_p.R375*|KRIT1_uc003ulu.1_Nonsense_Mutation_p.R423*|KRIT1_uc003ulv.1_Nonsense_Mutation_p.R423*	NM_004912	NP_919438	O00522	KRIT1_HUMAN	Homo sapiens KRIT1, ankyrin repeat containing (KRIT1), transcript variant 2, mRNA.	423	FERM.				angiogenesis|cell redox homeostasis|negative regulation of angiogenesis|negative regulation of endothelial cell apoptosis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|regulation of establishment of cell polarity|small GTPase mediated signal transduction	cell-cell junction|cytoskeleton	protein binding|small GTPase regulator activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1)	22	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CTGTATATTCGAACTTTTTCA	0.343000														52			17		0	0	1	0	0
FAM59A	64762	broad.mit.edu	37	18	29972987	29972987	+	Nonsense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:29972987C>A	uc002kxl.3	-	1	189	c.133G>T	c.(133-135)Gaa>Taa	p.E45*	FAM59A_uc002kxk.2_Nonsense_Mutation_p.E45*	NM_001242409	NP_001229338	Q9H706	FA59A_HUMAN	Homo sapiens family with sequence similarity 59, member A (FAM59A), transcript variant 1, mRNA.	45	CABIT.									endometrium(9)|kidney(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	36						CGCAGCCCTTCTACGCACTCT	0.423000														55			9		5.4927e-09	6.49148e-09	1	1	0
C9orf86	55684	broad.mit.edu	37	9	139718007	139718007	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:139718007C>T	uc004cjj.1	+	1	618	c.161C>T	c.(160-162)aCg>aTg	p.T54M	C9orf86_uc004cjm.2_Missense_Mutation_p.T54M|C9orf86_uc004cjh.3_Missense_Mutation_p.T54M|C9orf86_uc004cji.1_Missense_Mutation_p.T54M|C9orf86_uc004cjk.1_Non-coding_Transcript|C9orf86_uc004cjl.1_Non-coding_Transcript|C9orf86_uc010nbs.1_5'Flank	NM_001173988	NP_001167459	Q3YEC7	PARF_HUMAN	Homo sapiens chromosome 9 open reading frame 86 (C9orf86), transcript variant 3, mRNA.	54	Small GTPase-like.				small GTPase mediated signal transduction	cytoplasm|nucleus	GTP binding|protein binding			endometrium(4)|kidney(1)|lung(4)	9	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.61e-05)|Epithelial(140;0.000183)		GACAGGAACACGGGCAAGACA	0.562000														18			5		0	0	1	0	0
GABBR1	2550	broad.mit.edu	37	6	29577076	29577076	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:29577076C>T	uc003nmt.4	-	14	2125	c.1789G>A	c.(1789-1791)Gtt>Att	p.V597I	GABBR1_uc003nmp.4_Missense_Mutation_p.V480I|GABBR1_uc003nms.4_Missense_Mutation_p.V480I|GABBR1_uc003nmu.4_Missense_Mutation_p.V535I|GABBR1_uc011dlr.2_Missense_Mutation_p.V420I|GABBR1_uc011dls.1_Intron	NM_001470	NP_001461	Q9UBS5	GABR1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) B receptor, 1 (GABBR1), transcript variant 1, mRNA.	597					gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity			endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)	CTGGAGAGAACTGAGACGGAG	0.517000														34			17		0	0	1	0	0
RAD23A	5886	broad.mit.edu	37	19	13059141	13059141	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:13059141G>A	uc002mvw.1	+	2	494	c.385G>A	c.(385-387)Gcc>Acc	p.A129T	RAD23A_uc002mvz.1_Missense_Mutation_p.A129T|RAD23A_uc010xmw.1_5'UTR	NM_005053	NP_005044	P54725	RD23A_HUMAN	Homo sapiens RAD23 homolog A (S. cerevisiae) (RAD23A), mRNA.	129					interspecies interaction between organisms|nucleotide-excision repair|positive regulation of viral genome replication|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	damaged DNA binding|polyubiquitin binding|single-stranded DNA binding			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)	12						AGAGGAATCCGCCCCCACGAC	0.642000								Nucleotide excision repair (NER)						25			11		0	0	1	0	0
PAOX	196743	broad.mit.edu	37	10	135204907	135204907	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:135204907G>A	uc001lmv.3	+	6	1564	c.1484G>A	c.(1483-1485)cGc>cAc	p.R495H	PAOX_uc001lmx.3_Silent_p.P442P|PAOX_uc001lmy.3_3'UTR|PAOX_uc001lmz.3_Non-coding_Transcript|PAOX_uc001lna.3_Non-coding_Transcript|PAOX_uc001lnb.3_Non-coding_Transcript|PAOX_uc001lnc.3_Non-coding_Transcript|PAOX_uc001lmw.3_Non-coding_Transcript|MTG1_uc001lnd.3_5'Flank	NM_152911	NP_690875	Q6QHF9	PAOX_HUMAN	Homo sapiens polyamine oxidase (exo-N4-amino) (PAOX), transcript variant 1, mRNA.	633					polyamine biosynthetic process|xenobiotic metabolic process	peroxisomal matrix	polyamine oxidase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|urinary_tract(2)	23		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;4.39e-07)|OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|Epithelial(32;1.94e-06)		GAGGCCGACCGCCTCCTCAGT	0.662000														44			24		0	0	1	0	0
GPR32	2854	broad.mit.edu	37	19	51274083	51274083	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:51274083G>A	uc010ycf.2	+	0	226	c.226G>A	c.(226-228)Gtc>Atc	p.V76I		NM_001506	NP_001497	O75388	GPR32_HUMAN	Homo sapiens G protein-coupled receptor 32 (GPR32), mRNA.	76						integral to plasma membrane	N-formyl peptide receptor activity	p.V76A(1)		breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		GGCACGCACGGTCTCCACCGT	0.572000														27			15		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179429822	179429822	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179429822G>A	uc021vsy.1	-	274	73558	c.73333C>T	c.(73333-73335)Cga>Tga	p.R24445*	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Nonsense_Mutation_p.R18140*|TTN_uc021vta.1_Nonsense_Mutation_p.R18073*|TTN_uc021vtb.1_Nonsense_Mutation_p.R17948*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	25372							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)			GTTGTATCTCGCTTCTCTACA	0.428000														75			42		0	0	1	0	0
LRRC41	10489	broad.mit.edu	37	1	46745251	46745251	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:46745251G>A	uc001cpn.3	-	7	2100	c.2056C>T	c.(2056-2058)Cgc>Tgc	p.R686C	LRRC41_uc010omb.2_Missense_Mutation_p.R686C	NM_006369	NP_006360	Q15345	LRC41_HUMAN	Homo sapiens leucine rich repeat containing 41 (LRRC41), mRNA.	686										breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					TGGGCTGGGCGCTTCTCAAAC	0.557000														99			49		0	0	1	0	0
ANKRD33	341405	broad.mit.edu	37	12	52283195	52283195	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:52283195T>C	uc001rzd.3	+	3	744	c.566T>C	c.(565-567)gTg>gCg	p.V189A	ANKRD33_uc001rzh.4_3'UTR|ANKRD33_uc001rzf.4_Missense_Mutation_p.V54A|ANKRD33_uc001rze.3_Missense_Mutation_p.V54A|ANKRD33_uc001rzg.4_5'UTR|ANKRD33_uc001rzi.4_Missense_Mutation_p.V54A	NM_182608	NP_872414	Q7Z3H0	ANR33_HUMAN	Homo sapiens ankyrin repeat domain 33 (ANKRD33), transcript variant 2, mRNA.	54										endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.0969)		AACTACTATGTGGGCCTGGAC	0.627000														60			9		0	0	1	0	0
ERI3	79033	broad.mit.edu	37	1	44687263	44687263	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:44687263G>T	uc001clt.3	-	8	1222	c.981C>A	c.(979-981)ggC>ggA	p.G327G	ERI3_uc010okv.2_Silent_p.G150G|ERI3_uc010okw.2_Silent_p.G249G	NM_024066	NP_076971	O43414	ERI3_HUMAN	Homo sapiens ERI1 exoribonuclease family member 3 (ERI3), mRNA.	327						intracellular	exonuclease activity|metal ion binding|nucleic acid binding			endometrium(2)|large_intestine(2)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TGAAGATGAAGCCTCGATAGG	0.527000														34			5		0.00198382	0.00208369	1	1	0
RSPRY1	89970	broad.mit.edu	37	16	57272840	57272840	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:57272840C>T	uc002elb.3	+	14	1962	c.1684C>T	c.(1684-1686)Cgt>Tgt	p.R562C	RSPRY1_uc002elc.3_Missense_Mutation_p.R562C|RSPRY1_uc002eld.3_Missense_Mutation_p.R562C	NM_133368	NP_588609	Q96DX4	RSPRY_HUMAN	Homo sapiens ring finger and SPRY domain containing 1 (RSPRY1), mRNA.	562						extracellular region	zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3)	27						CCCATTGTGTCGTAAAGAAAT	0.418000														40			25		0	0	1	0	0
THBS2	7058	broad.mit.edu	37	6	169637723	169637723	+	Missense_Mutation	SNP	G	A	A	rs148970069	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:169637723G>A	uc003qwt.3	-	8	1545	c.1297C>T	c.(1297-1299)Cgc>Tgc	p.R433C		NM_003247	NP_003238	P35442	TSP2_HUMAN	Homo sapiens thrombospondin 2 (THBS2), mRNA.	433					cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		CACTCACTGCGGGTGTCACAC	0.647000														46			5		0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	132192525	132192525	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:132192525G>A	uc003vra.4	-	1	1157	c.928C>T	c.(928-930)Ctg>Ttg	p.L310L	PLXNA4_uc003vrc.2_Silent_p.L310L|PLXNA4_uc003vrb.3_Silent_p.L310L	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	310	Sema.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GCAGCCTGCAGCAGGCGGTAC	0.592000														29			15		0	0	1	0	0
KIAA0930	23313	broad.mit.edu	37	22	45598963	45598963	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:45598963C>T	uc003bfv.1	-	5	973	c.787G>A	c.(787-789)Gcc>Acc	p.A263T	KIAA0930_uc003bfx.1_Missense_Mutation_p.A254T|KIAA0930_uc010gzw.1_Missense_Mutation_p.A106T|KIAA0930_uc003bfw.1_Missense_Mutation_p.A259T|KIAA0930_uc010gzx.2_Missense_Mutation_p.A236T|MIR1249_uc021wrh.1_5'Flank	NM_001009880	NP_001009880	Q6ICG6	K0930_HUMAN	Homo sapiens KIAA0930 (KIAA0930), transcript variant 2, mRNA.	254							protein binding			endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|urinary_tract(1)	15						GCCATCTCGGCGTGGCCCTTG	0.622000														82			54		0	0	1	0	0
SSTR4	6754	broad.mit.edu	37	20	23016577	23016577	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:23016577C>T	uc002wsr.2	+	0	521	c.457C>T	c.(457-459)Cgc>Tgc	p.R153C		NM_001052	NP_001043	P31391	SSR4_HUMAN	Homo sapiens somatostatin receptor 4 (SSTR4), mRNA.	153					G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GCACCCTCTGCGCGCGGCGAC	0.667000														27			21		0	0	1	0	0
HLTF	6596	broad.mit.edu	37	3	148759321	148759321	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:148759321C>T	uc003ewq.1	-	19	2550	c.2332G>A	c.(2332-2334)Gta>Ata	p.V778I	HLTF_uc003ewr.1_Missense_Mutation_p.V778I|HLTF_uc003ews.1_Missense_Mutation_p.V777I|HLTF_uc010hve.1_Missense_Mutation_p.V777I	NM_139048	NP_620636	Q14527	HLTF_HUMAN	Homo sapiens helicase-like transcription factor (HLTF), transcript variant 2, mRNA.	778					chromatin modification|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			TTACAAAATACATGTGCACAA	0.378000														45			43		0	0	1	0	0
ALLC	55821	broad.mit.edu	37	2	3743461	3743461	+	Splice_Site	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:3743461A>G	uc010ewt.3	+	8	828	c.667_splice	c.e8+1	p.G223_splice	ALLC_uc002qyf.3_Splice_Site	NM_018436	NP_060906	Q8N6M5	ALLC_HUMAN	Homo sapiens allantoicase (ALLC), transcript variant 1, mRNA.	242							allantoicase activity			breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	30	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)		ACAATATAATAGGTAAGATGA	0.433000										HNSCC(21;0.051)				28			5		0	0	1	0	0
PARP15	165631	broad.mit.edu	37	3	122351054	122351054	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:122351054C>T	uc003efm.2	+	9	1626	c.1560C>T	c.(1558-1560)taC>taT	p.Y520Y	PARP15_uc003efn.2_Silent_p.Y325Y|PARP15_uc003efo.1_Silent_p.Y267Y|PARP15_uc003efp.1_Silent_p.Y286Y|PARP15_uc011bjt.1_Silent_p.Y217Y	NM_001113523	NP_001106995	Q460N3	PAR15_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 15 (PARP15), transcript variant 1, mRNA.	498	PARP catalytic.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	NAD+ ADP-ribosyltransferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0531)		GTTCTTCCTACGCAATAGAGA	0.358000														16			15		0	0	1	0	0
ARHGAP32	9743	broad.mit.edu	37	11	128839787	128839787	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:128839787C>T	uc009zcp.3	-	21	5279	c.5279G>A	c.(5278-5280)cGt>cAt	p.R1760H	ARHGAP32_uc009zcq.2_3'UTR|ARHGAP32_uc009zco.3_Missense_Mutation_p.R719H|ARHGAP32_uc001qez.3_Missense_Mutation_p.R1411H	NM_001142685	NP_055530	A7KAX9	RHG32_HUMAN	Homo sapiens Rho GTPase activating protein 32 (ARHGAP32), transcript variant 1, mRNA.	1760	Interaction with FYN.				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	Golgi membrane|cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						CTGCCGAGCACGGCTCTCTCT	0.552000														35			35		0	0	1	0	0
OSTalpha	200931	broad.mit.edu	37	3	195953912	195953912	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:195953912G>T	uc003fwd.3	+	2	411	c.210G>T	c.(208-210)gaG>gaT	p.E70D	OSTalpha_uc011btu.1_Missense_Mutation_p.E70D|OSTalpha_uc010iac.1_5'Flank|OSTalpha_uc003fwe.3_5'Flank	NM_152672	NP_689885	Q86UW1	OSTA_HUMAN	Homo sapiens organic solute transporter alpha (OSTalpha), mRNA.	70						integral to membrane|plasma membrane	transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;8.83e-25)|all cancers(36;8.38e-23)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;7.51e-07)|Lung(62;1.06e-06)	GBM - Glioblastoma multiforme(46;0.00202)		TCTTCCTGGAGGATGCCGTCT	0.627000														58			23		7.87624e-14	9.83087e-14	1	1	0
PIGQ	9091	broad.mit.edu	37	16	633214	633214	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:633214G>A	uc002cho.3	+	9	2001	c.1863G>A	c.(1861-1863)atG>atA	p.M621I	PIGQ_uc010bqw.3_3'UTR|PIGQ_uc002chn.3_3'UTR|PIGQ_uc010uui.2_3'UTR|PIGQ_uc002chp.3_Missense_Mutation_p.M191I|PIGQ_uc010uuj.2_Missense_Mutation_p.T191I	NM_148920	NP_683721	Q9BRB3	PIGQ_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class Q (PIGQ), transcript variant 1, mRNA.	621					C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(780;0.00335)				GTGAGCAGATGTGGGGGTGGC	0.642000														146			54		0	0	1	0	0
C9orf174	100499483	broad.mit.edu	37	9	100085191	100085191	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:100085191G>A	uc011lut.2	+	25	2791	c.1785G>A	c.(1783-1785)gtG>gtA	p.V595V	C9orf174_uc004axe.2_Silent_p.V595V|C9orf174_uc011lus.2_Silent_p.V413V|C9orf174_uc004axg.2_Silent_p.V456V|C9orf174_uc010msm.1_Non-coding_Transcript|C9orf174_uc004axf.3_Silent_p.V456V|C9orf174_uc011luv.1_Silent_p.V453V	NM_020893	NP_065944	Q9P1Z9	CI174_HUMAN	Homo sapiens chromosome 9 open reading frame 174 (C9orf174), mRNA.	595						integral to membrane				breast(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(1)	16						TGATGCATGTGCAGAATTGTA	0.567000														19			16		0	0	1	0	0
MALT1	10892	broad.mit.edu	37	18	56376782	56376782	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:56376782A>G	uc002lhm.1	+	4	1080	c.822A>G	c.(820-822)ctA>ctG	p.L274L	MALT1_uc002lhn.1_Silent_p.L274L	NM_006785	NP_006776	Q9UDY8	MALT1_HUMAN	Homo sapiens mucosa associated lymphoid tissue lymphoma translocation gene 1 (MALT1), transcript variant 1, mRNA.	274	Ig-like C2-type 2.				T cell receptor signaling pathway|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|nuclear export|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|positive regulation of interleukin-2 production|positive regulation of phosphorylation|positive regulation of protein ubiquitination|protein oligomerization|proteolysis	CBM complex|cytosol|nucleus|perinuclear region of cytoplasm	cysteine-type endopeptidase activity|protein self-association|signal transducer activity|ubiquitin-protein ligase activity			central_nervous_system(1)|large_intestine(7)|lung(1)|ovary(2)|skin(1)	12						CCAAAAAGCTATACATGGTAG	0.368000			T	BIRC3	MALT									27			20		0	0	1	0	0
VIL1	7429	broad.mit.edu	37	2	219301972	219301972	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:219301972G>T	uc002vib.3	+	15	2119	c.2097G>T	c.(2095-2097)aaG>aaT	p.K699N	VIL1_uc010zke.2_Missense_Mutation_p.K388N|VIL1_uc002via.3_Missense_Mutation_p.K699N	NM_007127	NP_009058	P09327	VILI_HUMAN	Homo sapiens villin 1 (VIL1), mRNA.	699	Core.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TTGTGGTGAAGCAGGGACACG	0.602000														32			13		0.00010058	0.000109296	1	1	0
PHGDH	26227	broad.mit.edu	37	1	120263907	120263907	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:120263907C>A	uc001ehz.3	+	1	480	c.253C>A	c.(253-255)Ctg>Atg	p.L85M	PHGDH_uc009whl.3_5'UTR|PHGDH_uc009whm.3_5'UTR|PHGDH_uc001eib.3_Missense_Mutation_p.L51M	NM_006623	NP_006614	O43175	SERA_HUMAN	Homo sapiens phosphoglycerate dehydrogenase (PHGDH), mRNA.	85					L-serine biosynthetic process|brain development		NAD binding|electron carrier activity|phosphoglycerate dehydrogenase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	18	all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347)		Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593)	NADH(DB00157)	CAATGTGGATCTGGAGGCCGC	0.582000														58			37		1.69901e-12	2.09735e-12	1	1	0
ARHGEF19	128272	broad.mit.edu	37	1	16535349	16535349	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:16535349C>A	uc001ayc.1	-	1	338	c.201G>T	c.(199-201)ctG>ctT	p.L67L	ARHGEF19_uc009voo.1_5'Flank	NM_153213	NP_694945	Q8IW93	ARHGJ_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 19 (ARHGEF19), mRNA.	67					regulation of actin cytoskeleton organization	intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)		CAGGGGTCCCCAGGGACCAGC	0.662000														21			5		0.217242	0.21859	1	1	0
ZNF555	148254	broad.mit.edu	37	19	2853649	2853649	+	Missense_Mutation	SNP	C	T	T	rs146806424	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:2853649C>T	uc002lwo.3	+	3	1724	c.1586C>T	c.(1585-1587)aCg>aTg	p.T529M	ZNF555_uc002lwn.4_Missense_Mutation_p.T528M	NM_152791	NP_690004	Q8NEP9	ZN555_HUMAN	Homo sapiens zinc finger protein 555 (ZNF555), transcript variant 1, mRNA.	529					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)|urinary_tract(4)	23				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CATGTGAGAACGCACACTGTA	0.418000														46			33		0	0	1	0	0
LTBP1	4052	broad.mit.edu	37	2	33590519	33590519	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:33590519T>C	uc021vft.1	+	30	4683	c.4660T>C	c.(4660-4662)Tat>Cat	p.Y1554H	LTBP1_uc002rou.3_Missense_Mutation_p.Y1228H|LTBP1_uc002rov.3_Missense_Mutation_p.Y1175H|LTBP1_uc010ymz.2_Missense_Mutation_p.Y1186H|LTBP1_uc010yna.2_Missense_Mutation_p.Y1133H|LTBP1_uc010ynb.2_Missense_Mutation_p.Y452H	NM_206943	NP_996826	Q14766	LTBP1_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 1 (LTBP1), transcript variant 1, mRNA.	1554	TB 4.				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				CTGCTGTCTGTATGGAGAGGC	0.542000														62			8		0	0	1	0	0
MAP3K14	9020	broad.mit.edu	37	17	43343970	43343970	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:43343970G>A	uc002iiw.1	-	14	2618	c.2509C>T	c.(2509-2511)Cga>Tga	p.R837*	LOC100133991_uc010dah.3_Intron|LOC100133991_uc002iit.4_Intron|LOC100133991_uc010dai.3_Intron|MAP3K14_uc002iiu.1_Nonsense_Mutation_p.R368*|MAP3K14_uc010daj.1_Non-coding_Transcript|MAP3K14_uc002iiv.1_Nonsense_Mutation_p.R422*	NM_003954	NP_003945	Q99558	M3K14_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 14 (MAP3K14), mRNA.	838					I-kappaB kinase/NF-kappaB cascade|T cell costimulation|cellular response to mechanical stimulus|immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade	cytosol	ATP binding|MAP kinase kinase kinase activity|NF-kappaB-inducing kinase activity|protein binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27						CTGGAGCTTCGAGCCTCGGCC	0.607000														78			43		0	0	1	0	0
BRSK2	9024	broad.mit.edu	37	11	1464847	1464847	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:1464847C>T	uc001ltm.3	+	7	1153	c.900C>T	c.(898-900)gaC>gaT	p.D300D	BRSK2_uc009ycv.1_Silent_p.D254D|BRSK2_uc001lth.1_Silent_p.D254D|BRSK2_uc001lti.3_Silent_p.D254D|BRSK2_uc001ltl.3_Silent_p.D254D|BRSK2_uc001ltj.3_Silent_p.D254D|BRSK2_uc001ltk.3_Non-coding_Transcript|BRSK2_uc001ltn.3_Non-coding_Transcript|BRSK2_uc010qwx.2_Non-coding_Transcript	NM_003957	NP_003948	Q8IWQ3	BRSK2_HUMAN	Homo sapiens BR serine/threonine kinase 2 (BRSK2), mRNA.	254	UBA.				establishment of cell polarity|neuron differentiation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			endometrium(4)|large_intestine(1)|lung(5)	10		all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00144)|Lung(200;0.0713)|LUSC - Lung squamous cell carcinoma(625;0.0842)		TCGAGGTGGACGCCGCACGCC	0.711000														9			6		0	0	1	0	0
KRT7	3855	broad.mit.edu	37	12	52635320	52635320	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:52635320G>A	uc001saa.1	+	4	885	c.758G>A	c.(757-759)cGc>cAc	p.R253H		NM_005556	NP_005547	P08729	K2C7_HUMAN	Homo sapiens keratin 7 (KRT7), mRNA.	253	Linker 12.|Rod.				DNA replication|cytoskeleton organization|interphase|interspecies interaction between organisms|regulation of translation	Golgi apparatus|keratin filament|nucleus	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	14				BRCA - Breast invasive adenocarcinoma(357;0.105)		GACAACAGTCGCTCCCTGGAC	0.587000														39			17		0	0	1	0	0
NAGLU	4669	broad.mit.edu	37	17	40696246	40696246	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:40696246G>A	uc002hzv.3	+	5	2562	c.2222G>A	c.(2221-2223)gGc>gAc	p.G741D		NM_000263	NP_000254	P54802	ANAG_HUMAN	Homo sapiens N-acetylglucosaminidase, alpha (NAGLU), mRNA.	741						lysosome	alpha-N-acetylglucosaminidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	12		all_cancers(22;1.58e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)	N-Acetyl-D-glucosamine(DB00141)	TGGGTGGCCGGCTCTTGGTGA	0.572000														26			17		0	0	1	0	0
CLSTN2	64084	broad.mit.edu	37	3	139894901	139894901	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:139894901C>T	uc003etn.3	+	1	408	c.218C>T	c.(217-219)cCg>cTg	p.P73L	CLSTN2_uc003etm.2_Missense_Mutation_p.P73L	NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN	Homo sapiens calsyntenin 2 (CLSTN2), mRNA.	73	Cadherin 1.				homophilic cell adhesion	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						AAAGATGCACCGGTTCCTTTT	0.478000										HNSCC(16;0.037)				22			17		0	0	1	0	0
KCNJ5	3762	broad.mit.edu	37	11	128781759	128781759	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:128781759G>A	uc001qet.3	+	1	905	c.591G>A	c.(589-591)gcG>gcA	p.A197A	KCNJ5_uc009zck.3_Silent_p.A197A|KCNJ5_uc001qew.3_Silent_p.A197A	NM_000890	NP_000881	P48544	IRK5_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 5 (KCNJ5), mRNA.	197					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glibenclamide(DB01016)	AGAAGAGAGCGGAGACCCTCA	0.567000														55			52		0	0	1	0	0
TRIP4	9325	broad.mit.edu	37	15	64687687	64687687	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:64687687C>A	uc002anm.3	+	2	422	c.362C>A	c.(361-363)cCt>cAt	p.P121H		NM_016213	NP_057297	Q15650	TRIP4_HUMAN	Homo sapiens thyroid hormone receptor interactor 4 (TRIP4), mRNA.	121					positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	ligand-dependent nuclear receptor binding|transcription coactivator activity|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21						TTTACTGAACCTGACACGACT	0.413000														101			16		2.35188e-11	2.87337e-11	1	1	0
AHNAK	79026	broad.mit.edu	37	11	62302477	62302477	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:62302477G>T	uc001ntl.3	-	3	640	c.340C>A	c.(340-342)Ctg>Atg	p.L114M	AHNAK_uc001ntk.1_Missense_Mutation_p.L114M	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	114					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GTACTCACCAGAACCACTTCA	0.672000														26			14		4.3838e-07	5.01911e-07	1	1	0
ADCK1	57143	broad.mit.edu	37	14	78390902	78390902	+	Missense_Mutation	SNP	G	A	A	rs140287525	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:78390902G>A	uc001xui.3	+	7	1060	c.961G>A	c.(961-963)Ggc>Agc	p.G321S	ADCK1_uc010tvo.1_Non-coding_Transcript|ADCK1_uc001xuj.3_Missense_Mutation_p.G253S|ADCK1_uc001xuk.1_Missense_Mutation_p.G195S|ADCK1_uc001xul.3_Missense_Mutation_p.G28S	NM_020421	NP_065154	Q86TW2	ADCK1_HUMAN	Homo sapiens aarF domain containing kinase 1 (ADCK1), transcript variant 1, mRNA.	328	Protein kinase.					extracellular region	ATP binding|protein serine/threonine kinase activity	p.S320L(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2)	25			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)		GAAGCACCCCGGCACGGGAAA	0.582000														35			22		0	0	1	0	0
ACOX2	8309	broad.mit.edu	37	3	58519234	58519234	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:58519234G>A	uc003dkl.3	-	4	696	c.521C>T	c.(520-522)gCc>gTc	p.A174V		NM_003500	NP_003491	Q99424	ACOX2_HUMAN	Homo sapiens acyl-CoA oxidase 2, branched chain (ACOX2), mRNA.	174					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)		CTCCTGGGTGGCTGCGTCATA	0.547000											OREG0015638	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		60			42		0	0	1	0	0
SAMD7	344658	broad.mit.edu	37	3	169644878	169644878	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:169644878C>T	uc003fgd.3	+	5	1095	c.828C>T	c.(826-828)gaC>gaT	p.D276D	SAMD7_uc003fge.3_Silent_p.D276D|SAMD7_uc011bpo.2_Silent_p.D177D	NM_182610	NP_872416	Q7Z3H4	SAMD7_HUMAN	Homo sapiens sterile alpha motif domain containing 7 (SAMD7), mRNA.	276										NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			AGGCCTGGGACGATGGGAAAG	0.562000														40			19		0	0	1	0	0
CAMSAP3	57662	broad.mit.edu	37	19	7677157	7677157	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:7677157C>T	uc002mgu.4	+	12	1960	c.1859C>T	c.(1858-1860)cCg>cTg	p.P620L	CAMSAP3_uc002mgv.4_Missense_Mutation_p.P593L|CAMSAP3_uc002mgw.3_5'Flank	NM_001080429	NP_001073898	Q9P1Y5	CAMP3_HUMAN	Homo sapiens calmodulin regulated spectrin-associated protein family, member 3 (CAMSAP3), transcript variant 1, mRNA.	593					epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding			cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						CCGGCCCCGCCGGAGGCCCTG	0.637000														4			5		0	0	1	0	0
DEPDC1B	55789	broad.mit.edu	37	5	59893604	59893604	+	Missense_Mutation	SNP	T	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:59893604T>A	uc003jsh.3	-	10	1639	c.1566A>T	c.(1564-1566)caA>caT	p.Q522H	DEPDC1B_uc011cqm.2_Missense_Mutation_p.Q460H|DEPDC1B_uc011cqn.2_Missense_Mutation_p.Q433H	NM_018369	NP_060839	Q8WUY9	DEP1B_HUMAN	Homo sapiens DEP domain containing 1B (DEPDC1B), transcript variant 1, mRNA.	522					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(2)|skin(2)	17		Lung NSC(810;0.000214)|Prostate(74;0.0147)|Breast(144;0.0991)|Ovarian(174;0.17)				TTCTAGTTCTTTGAAATGGTT	0.418000														143			8		0	0	1	0	0
STAU2	27067	broad.mit.edu	37	8	74529527	74529527	+	Splice_Site	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:74529527C>A	uc003xzm.3	-	7	911	c.570_splice	c.e7+1	p.Q190_splice	STAU2_uc011lfh.2_Splice_Site_p.Q86_splice|STAU2_uc003xzn.3_Splice_Site_p.Q158_splice|STAU2_uc011lfg.2_Splice_Site_p.Q18_splice|STAU2_uc003xzo.3_Splice_Site_p.Q190_splice|STAU2_uc003xzq.3_Splice_Site|STAU2_uc003xzp.3_Splice_Site_p.Q158_splice|STAU2_uc011lfi.2_Splice_Site_p.Q152_splice|STAU2_uc010lzk.3_Splice_Site_p.Q158_splice|STAU2_uc010lzl.1_Splice_Site_p.Q18_splice	NM_001164380	NP_001157855	Q9NUL3	STAU2_HUMAN	Homo sapiens staufen, RNA binding protein, homolog 2 (Drosophila) (STAU2), transcript variant 1, mRNA.	190					transport	endoplasmic reticulum|microtubule|nucleolus	double-stranded RNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)	19	Breast(64;0.0138)		Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972)			AGCACCACACCTGAGGAGATC	0.413000														30			10		7.03913e-09	8.30711e-09	1	1	0
FRMD4A	55691	broad.mit.edu	37	10	13701455	13701455	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:13701455G>A	uc001ims.3	-	20	2286	c.1934C>T	c.(1933-1935)gCg>gTg	p.A645V	FRMD4A_uc009xjf.1_Missense_Mutation_p.A645V	NM_018027	NP_060497	Q9P2Q2	FRM4A_HUMAN	Homo sapiens FERM domain containing 4A (FRMD4A), mRNA.	645	Ser-rich.					cytoplasm|cytoskeleton	binding	p.A645V(2)		breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						GCCGGCTTCCGCACAGCTTCC	0.657000														33			18		0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113312385	113312385	+	Splice_Site	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:113312385C>A	uc010mtz.3	-	2	869	c.532_splice	c.e2-1	p.Q178_splice	SVEP1_uc010mua.1_Splice_Site_p.Q178_splice|SVEP1_uc004beu.2_Splice_Site_p.Q178_splice|SVEP1_uc004bev.3_Splice_Site	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	178	VWFA.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GAAGAATTTGCTGTAATGAAA	0.393000														190			22		5.35047e-06	5.99257e-06	1	1	0
KLHL11	55175	broad.mit.edu	37	17	40010060	40010060	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:40010060G>A	uc002hyf.1	-	1	2065	c.2059C>T	c.(2059-2061)Cag>Tag	p.Q687*		NM_018143	NP_060613	Q9NVR0	KLH11_HUMAN	Homo sapiens kelch-like 11 (Drosophila) (KLHL11), mRNA.	687						extracellular region		p.R686K(1)		NS(2)|breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17		Breast(137;0.00156)				TCTTGCATCTGTCTGATGCGG	0.507000														69			55		0	0	1	0	0
MYO15A	51168	broad.mit.edu	37	17	18022853	18022853	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:18022853G>A	uc021trm.1	+	0	958	c.739G>A	c.(739-741)Gac>Aac	p.D247N	MYO15A_uc021trl.1_Missense_Mutation_p.D247N	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	Homo sapiens myosin XVA (MYO15A), mRNA.	247	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	ATP binding|actin binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CGACTACTACGACCGGCAGTC	0.647000														29			8		0	0	1	0	0
DDX42	11325	broad.mit.edu	37	17	61895444	61895444	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:61895444G>A	uc002jbu.3	+	18	2760	c.2503G>A	c.(2503-2505)Gga>Aga	p.G835R	DDX42_uc002jbv.3_Missense_Mutation_p.G835R|DDX42_uc002jbx.3_Missense_Mutation_p.G571R|DDX42_uc002jby.3_Missense_Mutation_p.G381R|DDX42_uc010wps.2_Missense_Mutation_p.G203R	NM_007372	NP_987095	Q86XP3	DDX42_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 42 (DDX42), transcript variant 1, mRNA.	835	Gly-rich.|His-rich.				protein localization|regulation of anti-apoptosis	Cajal body|cytoplasm|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding|protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						TCCACGTCACGGAGATGGTGG	0.582000														28			21		0	0	1	0	0
LMF2	91289	broad.mit.edu	37	22	50943312	50943312	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:50943312G>A	uc003blp.2	-	9	1387	c.1356C>T	c.(1354-1356)taC>taT	p.Y452Y	LMF2_uc003blo.2_Silent_p.Y427Y	NM_033200	NP_149977	Q9BU23	LMF2_HUMAN	Homo sapiens lipase maturation factor 2 (LMF2), mRNA.	452						endoplasmic reticulum membrane|integral to membrane				breast(1)|cervix(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10		all_cancers(38;1.31e-09)|all_epithelial(38;1.81e-08)|all_lung(38;0.000817)|Breast(42;0.00387)|Lung NSC(38;0.0124)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GGAAGAGGCCGTAGGAGTTGG	0.697000														6			6		0	0	1	0	0
KRT82	3888	broad.mit.edu	37	12	52789941	52789941	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:52789941G>A	uc001sai.1	-	6	1259	c.1144C>T	c.(1144-1146)Ctg>Ttg	p.L382L		NM_033033	NP_149022	Q9NSB4	KRT82_HUMAN	Homo sapiens keratin 82 (KRT82), mRNA.	382	Coil 2.|Rod.					keratin filament	protein binding|structural constituent of epidermis			endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	29				BRCA - Breast invasive adenocarcinoma(357;0.193)		AGCCCTGCCAGCTTGCACTTG	0.597000														17			12		0	0	1	0	0
IPO5	3843	broad.mit.edu	37	13	98645166	98645166	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:98645166C>T	uc001vne.3	+	9	924	c.744C>T	c.(742-744)taC>taT	p.Y248Y	IPO5_uc001vnf.1_Silent_p.Y230Y|IPO5_uc010tik.1_Silent_p.Y105Y|IPO5_uc010til.1_Silent_p.Y170Y	NM_002271	NP_002262	O00410	IPO5_HUMAN	Homo sapiens importin 5 (IPO5), mRNA.	230					NLS-bearing substrate import into nucleus|interspecies interaction between organisms|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|Ran GTPase binding|protein transporter activity			breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						ACTCGTGCTACCAGAATGATG	0.408000														54			27		0	0	1	0	0
FAM89A	375061	broad.mit.edu	37	1	231155731	231155731	+	Nonsense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:231155731C>A	uc001hui.2	-	1	471	c.433G>T	c.(433-435)Gag>Tag	p.E145*	FAM89A_uc021pkk.1_5'Flank	NM_198552	NP_940954	Q96GI7	FA89A_HUMAN	Homo sapiens family with sequence similarity 89, member A (FAM89A), mRNA.	145										endometrium(1)|upper_aerodigestive_tract(1)	2	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				TATTCCTCCTCTTCATCGAAG	0.592000														77			9		3.07112e-06	3.45634e-06	1	1	0
ZNF213	7760	broad.mit.edu	37	16	3190967	3190967	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:3190967G>A	uc010uws.2	+	5	1446	c.999G>A	c.(997-999)gcG>gcA	p.A333A	ZNF213_uc002cud.3_Non-coding_Transcript|ZNF213_uc010btf.3_3'UTR|ZNF213_uc010bth.3_Silent_p.A333A|ZNF213_uc010uwt.2_3'UTR	NM_004220	NP_004211	O14771	ZN213_HUMAN	Homo sapiens zinc finger protein 213 (ZNF213), transcript variant 1, mRNA.	333					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	16						CGGACCTGGCGCGGCACCAGC	0.706000														7			4		0	0	1	0	0
ZNF93	81931	broad.mit.edu	37	19	20027398	20027398	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:20027398G>A	uc002non.3	+	2	336	c.160G>A	c.(160-162)Gcc>Acc	p.A54T	ZNF93_uc002nom.3_Missense_Mutation_p.A54T	NM_031218	NP_112495	P35789	ZNF93_HUMAN	Homo sapiens zinc finger protein 93 (ZNF93), mRNA.	54	KRAB.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A54T(2)		endometrium(6)|kidney(2)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	24						AGACCTGATCGCCCATCTGGA	0.403000														55			38		0	0	1	0	0
SYMPK	8189	broad.mit.edu	37	19	46351106	46351106	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:46351106G>T	uc002pdn.3	-	6	825	c.580C>A	c.(580-582)Ctg>Atg	p.L194M	SYMPK_uc002pdo.1_Missense_Mutation_p.L194M|SYMPK_uc002pdp.1_Missense_Mutation_p.L194M|SYMPK_uc002pdq.2_Missense_Mutation_p.L194M	NM_004819	NP_004810	Q92797	SYMPK_HUMAN	Homo sapiens symplekin (SYMPK), mRNA.	194					cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		CGGGGTGACAGGGTGACAATG	0.582000														25			6		0.00116845	0.00123466	1	1	0
DOCK3	1795	broad.mit.edu	37	3	51395449	51395449	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:51395449C>T	uc011bds.2	+	45	4848	c.4825C>T	c.(4825-4827)Cgg>Tgg	p.R1609W		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	Homo sapiens dedicator of cytokinesis 3 (DOCK3), mRNA.	1609	DHR-2.					cytoplasm	GTP binding|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity	p.F1608F(1)		breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		CCCAGAAATGCGGCCTCTGCA	0.498000														52			39		0	0	1	0	0
CENPJ	55835	broad.mit.edu	37	13	25487072	25487072	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:25487072A>G	uc001upt.4	-	1	345	c.92T>C	c.(91-93)tTa>tCa	p.L31S	CENPJ_uc010tdf.2_Non-coding_Transcript|CENPJ_uc010aaf.3_Non-coding_Transcript	NM_018451	NP_060921	Q9HC77	CENPJ_HUMAN	Homo sapiens centromere protein J (CENPJ), mRNA.	31					G2/M transition of mitotic cell cycle|cell division|centriole replication|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		TCCACGATTTAATATGACCCC	0.448000														33			23		0	0	1	0	0
PCDHB6	56130	broad.mit.edu	37	5	140531705	140531705	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140531705C>T	uc003lir.3	+	0	1867	c.1867C>T	c.(1867-1869)Cgc>Tgc	p.R623C		NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	Homo sapiens protocadherin beta 6 (PCDHB6), mRNA.	623	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGCGAGGTGCGCACCGCCAG	0.687000														23			16		0	0	1	0	0
OPHN1	4983	broad.mit.edu	37	X	67417060	67417060	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:67417060G>T	uc004dww.4	-	11	1366	c.1072C>A	c.(1072-1074)Cta>Ata	p.L358I	OPHN1_uc011mpg.2_Missense_Mutation_p.L358I	NM_002547	NP_002538	O60890	OPHN1_HUMAN	Homo sapiens oligophrenin 1 (OPHN1), mRNA.	358	PH.				axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension	axon|cell junction|cytosol|dendritic spine|synapse	Rho GTPase activator activity|SH3 domain binding|cytoskeletal adaptor activity	p.L358R(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						TCCATCCATAGCCTTCTGTTA	0.478000														55			10		0.00829132	0.00860413	1	1	0
CCNL1	57018	broad.mit.edu	37	3	156867624	156867624	+	Splice_Site	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:156867624C>T	uc003fbf.3	-	8	1620	c.1021_splice	c.e8+1	p.S341_splice	CCNL1_uc003fbd.1_Splice_Site_p.S341_splice|CCNL1_uc003fbe.3_Splice_Site_p.S135_splice|CCNL1_uc003fbg.3_Splice_Site|CCNL1_uc011bor.2_Splice_Site|CCNL1_uc003fbi.1_Splice_Site_p.S186_splice	NM_020307	NP_064703	Q9UK58	CCNL1_HUMAN	Homo sapiens cyclin L1 (CCNL1), mRNA.	341					RNA processing|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	protein kinase binding			NS(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)	18			LUSC - Lung squamous cell carcinoma(72;0.0295)|Lung(72;0.0308)			ATACATCTTACATGGCTTGGA	0.398000														60			9		0	0	1	0	0
DISC1	27185	broad.mit.edu	37	1	231837741	231837741	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:231837741A>G	uc010pxh.2	+	2	1141	c.1088A>G	c.(1087-1089)gAt>gGt	p.D363G	DISC1_uc010pwe.2_Missense_Mutation_p.D318G|DISC1_uc010pwf.2_Intron|DISC1_uc010pwj.1_Missense_Mutation_p.D352G|DISC1_uc010pwk.1_Missense_Mutation_p.D352G|DISC1_uc010pwg.1_Missense_Mutation_p.D352G|DISC1_uc010pwh.1_Missense_Mutation_p.D318G|DISC1_uc010pwi.1_Missense_Mutation_p.D318G|DISC1_uc010pwl.2_Non-coding_Transcript|DISC1_uc010pwp.2_Missense_Mutation_p.D363G|DISC1_uc010pwo.2_Intron|DISC1_uc010pwq.2_Missense_Mutation_p.D363G|DISC1_uc010pwr.1_Missense_Mutation_p.D363G|DISC1_uc010pws.1_Missense_Mutation_p.D363G|DISC1_uc010pwt.1_Missense_Mutation_p.D363G|DISC1_uc010pwu.1_Intron|DISC1_uc010pwv.2_Intron|DISC1_uc010pwx.2_Non-coding_Transcript|DISC1_uc010pww.2_Missense_Mutation_p.D363G|DISC1_uc001huy.3_Missense_Mutation_p.D363G|DISC1_uc010pwy.2_Non-coding_Transcript|DISC1_uc010pwz.2_Non-coding_Transcript|DISC1_uc010pxa.2_Non-coding_Transcript|DISC1_uc010pxb.1_Missense_Mutation_p.D363G|DISC1_uc010pxc.1_Missense_Mutation_p.D363G|DISC1_uc010pxe.2_Missense_Mutation_p.D363G|DISC1_uc010pxf.2_Missense_Mutation_p.D363G|DISC1_uc010pxg.2_Missense_Mutation_p.D363G|DISC1_uc010pxd.2_Intron|DISC1_uc009xfr.3_Missense_Mutation_p.D318G|DISC1_uc010pxn.1_Intron|DISC1_uc010pxk.1_Non-coding_Transcript|DISC1_uc010pxi.1_Non-coding_Transcript|DISC1_uc010pxj.1_Intron|DISC1_uc010pxl.1_Non-coding_Transcript|DISC1_uc010pxm.2_Missense_Mutation_p.D363G|DISC1_uc001huz.3_Missense_Mutation_p.D363G|DISC1_uc001hva.3_Missense_Mutation_p.D363G|DISC1_uc010pwm.2_Missense_Mutation_p.D363G|DISC1_uc001hvc.3_Missense_Mutation_p.D363G|DISC1_uc010pwn.1_Missense_Mutation_p.D363G|DISC1_uc021pkn.1_Missense_Mutation_p.D363G|DISC1_uc001hux.1_Intron	NM_001164537	NP_001158009	Q9NRI5	DISC1_HUMAN	Homo sapiens disrupted in schizophrenia 1 (DISC1), transcript variant a, mRNA.	363	Interaction with TRAF3IP1.				Wnt receptor signaling pathway|microtubule cytoskeleton organization|neuron migration|positive regulation of Wnt receptor signaling pathway|positive regulation of neuroblast proliferation	centrosome|microtubule	protein binding			breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(173;0.0208)|Prostate(94;0.0975)				CTTCAGGAAGATGCAGTTGAG	0.274000														43			7		0	0	1	0	0
COL14A1	7373	broad.mit.edu	37	8	121344960	121344960	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:121344960G>A	uc003yox.3	+	41	5036	c.4771G>A	c.(4771-4773)Gcc>Acc	p.A1591T	COL14A1_uc003yoz.3_Missense_Mutation_p.A556T	NM_021110	NP_066933	Q05707	COEA1_HUMAN	Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA.	1591	Triple-helical region 1 (COL2).				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	p.A1591T(2)|p.G1590G(1)		NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			ACCGCAAGGCGCCCTGGGACC	0.507000														24			13		0	0	1	0	0
SLC10A3	8273	broad.mit.edu	37	X	153717057	153717057	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153717057C>T	uc022cig.1	-	0	223	c.223G>A	c.(223-225)Gag>Aag	p.E75K	UBL4A_uc004flo.3_5'Flank|SLC10A3_uc004flr.3_Missense_Mutation_p.E75K|SLC10A3_uc004flq.3_Missense_Mutation_p.E75K|SLC10A3_uc004flp.3_Missense_Mutation_p.E75K	NM_019848	NP_062822	P09131	P3_HUMAN	Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 3 (SLC10A3), transcript variant 1, mRNA.	75					organic anion transport	integral to membrane	bile acid:sodium symporter activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AACTCAAACTCCATCACAGAG	0.632000														134			12		0	0	1	0	0
UNC93A	54346	broad.mit.edu	37	6	167721318	167721318	+	Missense_Mutation	SNP	G	A	A	rs143452023	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:167721318G>A	uc003qvq.3	+	6	1203	c.1028G>A	c.(1027-1029)cGt>cAt	p.R343H	UNC93A_uc003qvr.3_Missense_Mutation_p.R301H	NM_018974	NP_061847	Q86WB7	UN93A_HUMAN	Homo sapiens unc-93 homolog A (C. elegans) (UNC93A), transcript variant 1, mRNA.	343						integral to membrane|plasma membrane				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		TGGAGACCTCGTGCTGACCAT	0.617000														48			22		0	0	1	0	0
ABHD4	63874	broad.mit.edu	37	14	23079789	23079789	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:23079789G>A	uc001wgm.3	+	6	1033	c.964G>A	c.(964-966)Gtc>Atc	p.V322I	ABHD4_uc010tnb.2_Non-coding_Transcript	NM_022060	NP_071343	Q8TB40	ABHD4_HUMAN	Homo sapiens abhydrolase domain containing 4 (ABHD4), mRNA.	322					lipid catabolic process		hydrolase activity			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(3)|prostate(1)	14	all_cancers(95;5.49e-05)			GBM - Glioblastoma multiforme(265;0.0153)		CTCCCACCATGTCTATGCTGA	0.527000														37			14		0	0	1	0	0
ASB15	142685	broad.mit.edu	37	7	123267271	123267271	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:123267271G>A	uc003vku.1	+	8	1097	c.805G>A	c.(805-807)Gga>Aga	p.G269R	ASB15_uc003vkv.1_Missense_Mutation_p.G269R|ASB15_uc003vkw.1_Missense_Mutation_p.G269R	NM_080928	NP_563616	Q8WXK1	ASB15_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 15 (ASB15), mRNA.	269					intracellular signal transduction					breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						TGGAGGAAGCGGAAATGTACC	0.493000														44			10		0	0	1	0	0
PRDM11	56981	broad.mit.edu	37	11	45245842	45245842	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:45245842C>A	uc001myo.3	+	7	1168	c.919C>A	c.(919-921)Ctc>Atc	p.L307I		NM_020229	NP_064614	Q9NQV5	PRD11_HUMAN	Homo sapiens PR domain containing 11 (PRDM11), mRNA.	307										endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						TCCCATTCATCTCTCTGTGCT	0.498000														136			84		5.52753e-52	7.36904e-52	1	1	0
SKIV2L2	23517	broad.mit.edu	37	5	54640973	54640973	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:54640973G>A	uc003jpy.4	+	9	1323	c.1057G>A	c.(1057-1059)Gca>Aca	p.A353T	SKIV2L2_uc011cqi.2_Missense_Mutation_p.A252T	NM_015360	NP_056175	P42285	SK2L2_HUMAN	Homo sapiens superkiller viralicidic activity 2-like 2 (S. cerevisiae) (SKIV2L2), mRNA.	353					maturation of 5.8S rRNA	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				GCTTCGAGATGCAGGTGATTT	0.353000														22			15		0	0	1	0	0
SPEN	23013	broad.mit.edu	37	1	16245447	16245447	+	Silent	SNP	A	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:16245447A>T	uc001axk.1	+	6	1626	c.1422A>T	c.(1420-1422)ggA>ggT	p.G474G	SPEN_uc010obp.1_Silent_p.G433G	NM_015001	NP_055816	Q96T58	MINT_HUMAN	Homo sapiens spen homolog, transcriptional regulator (Drosophila) (SPEN), mRNA.	474	RRM 3.				Notch signaling pathway|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding|protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		AAGTAAATGGAGTTCCTCAGT	0.353000														42			5		0	0	1	0	0
TRPV3	162514	broad.mit.edu	37	17	3427532	3427532	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:3427532C>T	uc002fvr.2	-	12	2025	c.1703G>A	c.(1702-1704)gGt>gAt	p.G568D	TRPV3_uc002fvs.1_Non-coding_Transcript|TRPV3_uc010vrh.1_Missense_Mutation_p.G552D|TRPV3_uc010vri.1_Missense_Mutation_p.G523D|TRPV3_uc010vrk.1_Non-coding_Transcript|TRPV3_uc002fvt.1_Missense_Mutation_p.G568D|TRPV3_uc010vrj.1_Missense_Mutation_p.G552D|TRPV3_uc010vrm.1_Non-coding_Transcript|TRPV3_uc010vrl.1_Missense_Mutation_p.G552D|TRPV3_uc002fvu.3_Missense_Mutation_p.G568D|TRPV3_uc010vrn.1_Silent_p.G130G	NM_145068	NP_659505	Q8NET8	TRPV3_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 3 (TRPV3), mRNA.	568						integral to membrane	calcium channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35					Menthol(DB00825)	GGACTGGAAACCCCGCGTATA	0.587000														94			53		0	0	1	0	0
NCF2	4688	broad.mit.edu	37	1	183538285	183538285	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:183538285C>A	uc001gqj.4	-	6	980	c.705G>T	c.(703-705)gaG>gaT	p.E235D	NCF2_uc010pod.2_Missense_Mutation_p.E190D|NCF2_uc010poe.2_Missense_Mutation_p.E154D|NCF2_uc001gqk.4_Missense_Mutation_p.E235D	NM_000433	NP_001121123	P19878	NCF2_HUMAN	Homo sapiens neutrophil cytosolic factor 2 (NCF2), transcript variant 1, mRNA.	235					cellular defense response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex|nucleolus	electron carrier activity|protein C-terminus binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30						ACCTGAAGATCTCTGGGGTTT	0.478000														152			9		1.58986e-06	1.80238e-06	1	1	0
LGMN	5641	broad.mit.edu	37	14	93185138	93185138	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:93185138C>T	uc001yav.3	-	3	551	c.190G>A	c.(190-192)Gaa>Aaa	p.E64K	LGMN_uc001yat.3_Missense_Mutation_p.E64K|LGMN_uc001yau.3_Missense_Mutation_p.E64K|LGMN_uc001yaw.3_Missense_Mutation_p.E64K	NM_001008530	NP_005597	Q99538	LGMN_HUMAN	Homo sapiens legumain (LGMN), transcript variant 2, mRNA.	64					hormone biosynthetic process|negative regulation of neuron apoptosis|vitamin D metabolic process	lysosome	cysteine-type endopeptidase activity|protein serine/threonine kinase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|skin(2)	18		all_cancers(154;0.0706)		COAD - Colon adenocarcinoma(157;0.224)		ACGATCTGTTCGTCAGGAATC	0.468000														46			23		0	0	1	0	0
ZDHHC13	54503	broad.mit.edu	37	11	19167744	19167744	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:19167744C>T	uc001mpi.3	+	2	295	c.190C>T	c.(190-192)Cga>Tga	p.R64*	ZDHHC13_uc001mpj.3_5'UTR	NM_019028	NP_001001483	Q8IUH4	ZDH13_HUMAN	Homo sapiens zinc finger, DHHC-type containing 13 (ZDHHC13), transcript variant 1, mRNA.	64					positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi-associated vesicle membrane|integral to membrane	magnesium ion transmembrane transporter activity|palmitoyltransferase activity|signal transducer activity|zinc ion binding			NS(1)|kidney(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6						AATTTTTGAACGATGTAAAGA	0.313000														9			6		0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144947316	144947316	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:144947316G>T	uc003zaa.1	-	0	119	c.106C>A	c.(106-108)Ccc>Acc	p.P36T		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	36						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TGGGGCCTGGGGGGCGTGCCG	0.692000														23			16		2.39187e-15	3.01214e-15	1	1	0
RAI14	26064	broad.mit.edu	37	5	34808726	34808726	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:34808726C>T	uc003jis.3	+	8	965	c.426C>T	c.(424-426)tgC>tgT	p.C142C	RAI14_uc003jir.3_Silent_p.C139C|RAI14_uc010iur.3_Silent_p.C139C|RAI14_uc011coj.2_Silent_p.C139C|RAI14_uc010ius.1_Silent_p.C68C|RAI14_uc003jit.3_Silent_p.C139C|RAI14_uc011cok.2_Silent_p.C131C	NM_001145525	NP_001138997	Q9P0K7	RAI14_HUMAN	Homo sapiens retinoic acid induced 14 (RAI14), transcript variant 6, mRNA.	139						cell cortex|cytoskeleton	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					AGATTCTCTGCGAACACAAGA	0.478000														22			14		0	0	1	0	0
ZNF304	57343	broad.mit.edu	37	19	57865197	57865197	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:57865197C>A	uc010etw.3	+	1	526	c.138C>A	c.(136-138)aaC>aaA	p.N46K	ZNF304_uc010ygw.2_Missense_Mutation_p.N46K|ZNF304_uc010etx.3_Missense_Mutation_p.N4K	NM_020657	NP_065708	Q9HCX3	ZN304_HUMAN	Homo sapiens zinc finger protein 304 (ZNF304), mRNA.	46	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)	26		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		TGCTGGAGAACTTTGCACTTG	0.438000														23			18		2.4624e-09	2.92908e-09	1	1	0
GKAP1	80318	broad.mit.edu	37	9	86399660	86399660	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:86399660T>C	uc004amy.3	-	5	1028	c.532A>G	c.(532-534)Aca>Gca	p.T178A	GKAP1_uc004amz.3_Missense_Mutation_p.T178A|GKAP1_uc011lsu.1_Non-coding_Transcript	NM_025211	NP_079487	Q5VSY0	GKAP1_HUMAN	Homo sapiens G kinase anchoring protein 1 (GKAP1), transcript variant 1, mRNA.	178					signal transduction	Golgi apparatus				endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	14						AGTGATACTGTGAGAGGTCTG	0.299000														139			13		0	0	1	0	0
CACNA1B	774	broad.mit.edu	37	9	140811789	140811789	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:140811789A>C	uc004cog.3	+	5	1017	c.872A>C	c.(871-873)aAc>aCc	p.N291T	CACNA1B_uc022bqn.1_Missense_Mutation_p.N291T	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA.	291					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	CCAGGACCCAACTTTGGCATC	0.582000														64			36		0	0	1	0	0
PTGS1	5742	broad.mit.edu	37	9	125154616	125154616	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:125154616G>T	uc004bmg.1	+	10	1728	c.1593G>T	c.(1591-1593)aaG>aaT	p.K531N	PTGS1_uc011lys.1_Missense_Mutation_p.K469N|PTGS1_uc010mwb.1_Missense_Mutation_p.K385N|PTGS1_uc004bmf.1_Missense_Mutation_p.K494N|PTGS1_uc004bmh.1_Missense_Mutation_p.K422N|PTGS1_uc011lyt.1_Missense_Mutation_p.K422N	NM_000962	NP_000953	P23219	PGH1_HUMAN	Homo sapiens prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase) (PTGS1), transcript variant 1, mRNA.	531					cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	Golgi apparatus|endoplasmic reticulum membrane|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)|gamma-Homolinolenic acid(DB00154)	TTTCCCTCAAGGGTCTCCTAG	0.512000														108			11		2.27111e-07	2.61452e-07	1	1	0
SHC2	25759	broad.mit.edu	37	19	422274	422274	+	Nonsense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:422274C>A	uc002loq.4	-	10	1492	c.1492G>T	c.(1492-1494)Gag>Tag	p.E498*		NM_012435	NP_036567	P98077	SHC2_HUMAN	Homo sapiens SHC (Src homology 2 domain containing) transforming protein 2 (SHC2), mRNA.	498	SH2.				Ras protein signal transduction|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway	cytosol				endometrium(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCATCCTCTCTGCCGCCCGG	0.706000														13			4		0.014758	0.0151755	1	1	0
AKAP7	9465	broad.mit.edu	37	6	131490380	131490380	+	Nonsense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:131490380G>T	uc003qck.3	+	4	634	c.490G>T	c.(490-492)Gga>Tga	p.G164*		NM_016377	NP_057461	O43687	AKA7A_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 7 (AKAP7), transcript variant gamma, mRNA.	0					intracellular signal transduction|ion transport	apical plasma membrane|intracellular|lateral plasma membrane	protein kinase A binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|stomach(1)	13	Breast(56;0.152)			GBM - Glioblastoma multiforme(226;0.0184)|OV - Ovarian serous cystadenocarcinoma(155;0.0345)		GCTGGCAGAAGGAGATCATGT	0.383000														129			18		0.000175454	0.00018951	1	1	0
SHROOM2	357	broad.mit.edu	37	X	9900466	9900466	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:9900466C>T	uc004csu.1	+	5	3233	c.3143C>T	c.(3142-3144)tCg>tTg	p.S1048L	SHROOM2_uc004csv.2_5'UTR|SHROOM2_uc011mic.1_5'UTR|SHROOM2_uc004csw.1_5'UTR	NM_001649	NP_001640	Q13796	SHRM2_HUMAN	Homo sapiens shroom family member 2 (SHROOM2), mRNA.	1048					apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				GGACAAGACTCGTGGCCAGTG	0.647000														14			3		0	0	1	0	0
VAMP8	8673	broad.mit.edu	37	2	85808760	85808760	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:85808760A>C	uc002spt.4	+	2	380	c.224A>C	c.(223-225)aAg>aCg	p.K75T	VAMP5_uc002spu.1_5'Flank	NM_003761	NP_003752	Q9BV40	VAMP8_HUMAN	Homo sapiens vesicle-associated membrane protein 8 (endobrevin) (VAMP8), mRNA.	75					post-Golgi vesicle-mediated transport	early endosome|integral to membrane|membrane fraction|plasma membrane|secretory granule membrane		p.K75M(2)		breast(1)|endometrium(2)|large_intestine(1)|stomach(2)	6						AAGAACGTGAAGATGATTGTC	0.483000														265			12		0	0	1	0	0
DST	667	broad.mit.edu	37	6	56382357	56382357	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:56382357G>T	uc003pcy.4	-	50	10430	c.10322C>A	c.(10321-10323)tCt>tAt	p.S3441Y		NM_015548	NP_056363	Q03001	DYST_HUMAN	Homo sapiens dystonin (DST), transcript variant 1eA, mRNA.	5853					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	Z disc|actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein C-terminus binding|protein binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GTCACCCAGAGACATCAATTT	0.388000														17			9		1.76689e-08	2.07166e-08	1	1	0
ITGAM	3684	broad.mit.edu	37	16	31332801	31332801	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:31332801A>G	uc002ebr.3	+	15	1956	c.1858A>G	c.(1858-1860)Aga>Gga	p.R620G	ITGAM_uc002ebq.3_Missense_Mutation_p.R619G|ITGAM_uc010cam.1_Intron|ITGAM_uc010can.3_Missense_Mutation_p.R25G|ITGAM_uc002ebs.1_Missense_Mutation_p.R25G	NM_001145808	NP_001139280	P11215	ITAM_HUMAN	Homo sapiens integrin, alpha M (complement component 3 receptor 3 subunit) (ITGAM), transcript variant 1, mRNA.	619					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						GCCAGTACTGAGAGTCAAGGC	0.493000														272			18		0	0	1	0	0
NLGN2	57555	broad.mit.edu	37	17	7311772	7311772	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7311772C>T	uc002ggt.1	+	0	271	c.198C>T	c.(196-198)gtC>gtT	p.V66V		NM_020795	NP_065846	Q8NFZ4	NLGN2_HUMAN	Homo sapiens neuroligin 2 (NLGN2), mRNA.	66					cell-cell junction maintenance|neuron cell-cell adhesion|positive regulation of synaptogenesis|regulation of inhibitory postsynaptic membrane potential|synapse assembly	cell surface|integral to plasma membrane|postsynaptic membrane	neurexin binding|receptor activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|prostate(2)|skin(3)	22		Prostate(122;0.157)				TGGGCCCCGTCGTGCAGTTCT	0.746000														2			3		0	0	1	0	0
MMP24	10893	broad.mit.edu	37	20	33839824	33839824	+	Splice_Site	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:33839824G>T	uc002xbu.2	+	3	515	c.512_splice	c.e3+1	p.S171_splice	EDEM2_uc010zuv.1_Intron	NM_006690	NP_006681	Q9Y5R2	MMP24_HUMAN	Homo sapiens matrix metallopeptidase 24 (membrane-inserted) (MMP24), mRNA.	171					proteolysis	integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(3)|large_intestine(1)|lung(2)|prostate(2)|skin(5)	14			BRCA - Breast invasive adenocarcinoma(18;0.00252)			ATCACCTACAGGTGCTTCGAC	0.562000														41			5		0.000602214	0.000641151	1	1	0
ROS1	6098	broad.mit.edu	37	6	117681540	117681540	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:117681540C>T	uc003pxp.1	-	21	3609	c.3410G>A	c.(3409-3411)gGa>gAa	p.G1137E	ROS1_uc011ebi.1_Non-coding_Transcript|ROS1_uc003pxq.1_Intron	NM_002944	NP_002935	P08922	ROS_HUMAN	Homo sapiens c-ros oncogene 1 , receptor tyrosine kinase (ROS1), mRNA.	1137	Fibronectin type-III 5.				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		AGCATATGGTCCTGGCCCCTT	0.398000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""									47			4		0	0	1	0	0
KIF26B	55083	broad.mit.edu	37	1	245809509	245809509	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:245809509C>T	uc001ibf.1	+	9	2625	c.2185C>T	c.(2185-2187)Ctg>Ttg	p.L729L	KIF26B_uc010pyq.1_Silent_p.L729L|KIF26B_uc001ibg.1_Silent_p.L347L|KIF26B_uc001ibh.1_5'UTR	NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	Homo sapiens kinesin family member 26B (KIF26B), mRNA.	729	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			AGGCTCAGGGCTGTGTCTCTC	0.517000														29			6		0	0	1	0	0
HDHD3	81932	broad.mit.edu	37	9	116136318	116136318	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:116136318C>A	uc022bme.1	-	0	317	c.317G>T	c.(316-318)aGc>aTc	p.S106I	HDHD3_uc004bhi.1_Missense_Mutation_p.S106I|HDHD3_uc004bhk.3_Missense_Mutation_p.S106I	NM_031219	NP_112496	Q9BSH5	HDHD3_HUMAN	Homo sapiens haloacid dehalogenase-like hydrolase domain containing 3 (HDHD3), mRNA.	106							phosphoglycolate phosphatase activity|protein binding			large_intestine(2)|liver(1)	3						GCAGGGGTGGCTGAAGTCTTT	0.602000														91			15		1.15088e-07	1.32926e-07	1	1	0
MTMR3	8897	broad.mit.edu	37	22	30416049	30416049	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:30416049A>C	uc003agv.4	+	16	2729	c.2401A>C	c.(2401-2403)Att>Ctt	p.I801L	MTMR3_uc003agu.4_Missense_Mutation_p.I801L|MTMR3_uc003agw.4_Missense_Mutation_p.I801L	NM_021090	NP_066576	Q13615	MTMR3_HUMAN	Homo sapiens myotubularin related protein 3 (MTMR3), transcript variant 3, mRNA.	801					phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			AATAGAAGAGATTGCAGAGGG	0.537000														58			8		0	0	1	0	0
ELAC2	60528	broad.mit.edu	37	17	12898155	12898155	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:12898155G>A	uc002gnz.4	-	20	2072	c.1955C>T	c.(1954-1956)gCg>gTg	p.A652V	ELAC2_uc002gnu.4_Missense_Mutation_p.A49V|ELAC2_uc002gnv.4_Missense_Mutation_p.A280V|ELAC2_uc002gnx.4_Missense_Mutation_p.A412V|ELAC2_uc010vvo.2_Missense_Mutation_p.A450V|ELAC2_uc010vvp.2_Missense_Mutation_p.A633V|ELAC2_uc010vvq.2_Missense_Mutation_p.A651V|ELAC2_uc010vvr.2_Missense_Mutation_p.A612V	NM_018127	NP_060597	Q9BQ52	RNZ2_HUMAN	Homo sapiens elaC homolog 2 (E. coli) (ELAC2), transcript variant 1, mRNA.	652					tRNA processing	nucleus	endonuclease activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|skin(1)	23						GTGCACCAGCGCACAGCCAAA	0.622000														58			13		0	0	1	0	0
TRAV38-2DV8	28643	broad.mit.edu	37	14	22749069	22749069	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:22749069C>T	uc010tmr.2	+	0	82	c.36C>T	c.(34-36)atC>atT	p.I12I	TCRA_uc001wbw.2_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Intron|TCRA_uc001wco.3_Intron|TCRA_uc010aje.1_Intron|TCRA_uc001wcp.2_Intron|TCRA_uc001wcr.1_Intron|TCRA_uc001wcs.1_Intron|TCRA_uc010ajf.1_Intron|TCRA_uc001wcu.4_Intron|TCRA_uc021rpn.1_Intron|TCRA_uc001wcx.4_Intron|TCRA_uc021rpr.1_Intron|TCRA_uc001wdd.2_Intron|TCRA_uc010ajj.1_Intron|TCRA_uc001wde.1_Intron|TCRA_uc010ajk.2_Intron|TCRA_uc001wdg.1_Intron|TCRA_uc021rpt.1_Intron|TCRA_uc010ajl.1_Intron|AV4S1_uc021rpv.1_Intron|TCRA_uc010ajo.1_Intron|TCRA_uc010ajp.1_Intron|TCRA_uc021rpw.1_Intron					SubName: Full=HADV38S2; Flags: Fragment;																		CACTTGTGATCTCCACCTGTC	0.473000														65			31		0	0	1	0	0
QTRT1	81890	broad.mit.edu	37	19	10823678	10823678	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10823678G>A	uc002mpr.3	+	8	1046	c.1021G>A	c.(1021-1023)Gcg>Acg	p.A341T	DNM2_uc010dxk.2_5'Flank	NM_031209	NP_112486	Q9BXR0	TGT_HUMAN	Homo sapiens queuine tRNA-ribosyltransferase 1 (QTRT1), mRNA.	341					queuosine biosynthetic process	mitochondrion|nucleus|ribosome	metal ion binding|queuine tRNA-ribosyltransferase activity			large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	12			Epithelial(33;1.55e-05)|all cancers(31;3.42e-05)			CAACACGGCCGCGCTGCACCA	0.682000														17			11		0	0	1	0	0
ETNK2	55224	broad.mit.edu	37	1	204109171	204109171	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:204109171T>C	uc001han.4	-	4	1187	c.860A>G	c.(859-861)gAg>gGg	p.E287G	ETNK2_uc010pqr.2_Missense_Mutation_p.E109G|ETNK2_uc001hao.4_Missense_Mutation_p.E287G|ETNK2_uc010pqs.2_Missense_Mutation_p.E246G|ETNK2_uc010pqt.2_Missense_Mutation_p.E109G|BC038769_uc001hap.3_5'Flank			Q9NVF9	EKI2_HUMAN	Homo sapiens ethanolamine kinase 2 (ETNK2), mRNA.	287							ATP binding|choline kinase activity|ethanolamine kinase activity	p.E287E(1)		breast(1)|central_nervous_system(1)|large_intestine(4)|ovary(1)	7	all_cancers(21;0.032)|Breast(84;0.116)|all_epithelial(62;0.196)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			ACCTGCAAACTCATTGAAATG	0.443000														69			9		0	0	1	0	0
SF3B5	83443	broad.mit.edu	37	6	144416569	144416569	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:144416569G>A	uc003qkr.1	-	0	186	c.66C>T	c.(64-66)ggC>ggT	p.G22G		NM_031287	NP_112577	Q9BWJ5	SF3B5_HUMAN	Homo sapiens splicing factor 3b, subunit 5, 10kDa (SF3B5), mRNA.	22					nuclear mRNA splicing, via spliceosome	U12-type spliceosomal complex|nucleoplasm				lung(2)|prostate(1)	3				OV - Ovarian serous cystadenocarcinoma(155;1.68e-06)|GBM - Glioblastoma multiforme(68;0.0638)		TGTCGGCGTGGCCCGTGCCGA	0.592000														24			19		0	0	1	0	0
ZSCAN22	342945	broad.mit.edu	37	19	58846361	58846361	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58846361G>A	uc002qsc.2	+	1	340	c.193G>A	c.(193-195)Gag>Aag	p.E65K	ZSCAN22_uc010yhz.1_Missense_Mutation_p.E65K	NM_181846	NP_862829	P10073	ZSC22_HUMAN	Homo sapiens zinc finger and SCAN domain containing 22 (ZSCAN22), mRNA.	65	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|pancreas(1)|prostate(2)	16		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289)		TGGTCCACACGAGGCCCTGGC	0.642000														35			19		0	0	1	0	0
WWOX	51741	broad.mit.edu	37	16	78466627	78466627	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:78466627C>T	uc002ffk.3	+	7	1383	c.1034C>T	c.(1033-1035)gCg>gTg	p.A345V	WWOX_uc002ffl.3_Intron|WWOX_uc010che.3_Intron|WWOX_uc010vnk.2_Missense_Mutation_p.A232V	NM_016373	NP_057457	Q9NZC7	WWOX_HUMAN	Homo sapiens WW domain containing oxidoreductase (WWOX), transcript variant 1, mRNA.	345	Interaction with MAPT (By similarity).				Wnt receptor signaling pathway|apoptosis|negative regulation of Wnt receptor signaling pathway|steroid metabolic process	Golgi apparatus|mitochondrion|nucleus	coenzyme binding|oxidoreductase activity|protein dimerization activity			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	7		all_cancers(2;1.97e-181)|all_epithelial(2;3.85e-160)|all_lung(2;2.03e-39)|Lung NSC(2;7.16e-35)|Colorectal(2;6.96e-21)|all_hematologic(2;1.13e-16)|Melanoma(2;5.16e-06)|all_neural(2;8.84e-06)|Renal(2;5.26e-05)|Medulloblastoma(2;0.00498)|Breast(2;0.00631)|Lung SC(2;0.0261)|Prostate(104;0.167)		UCEC - Uterine corpus endometrioid carcinoma (2;0.012)|Epithelial(1;2.65e-39)|all cancers(1;3.26e-34)|STAD - Stomach adenocarcinoma(1;5.1e-20)|COAD - Colon adenocarcinoma(1;1.04e-11)|Colorectal(1;3.4e-11)|OV - Ovarian serous cystadenocarcinoma(1;1.01e-10)|BRCA - Breast invasive adenocarcinoma(1;0.00196)|Kidney(780;0.232)		TTTACCTTGGCGAGGCCTTTC	0.532000														141			82		0	0	1	0	0
MCMDC2	157777	broad.mit.edu	37	8	67803186	67803186	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:67803186A>G	uc003xwz.4	+	9	1331	c.1160A>G	c.(1159-1161)aAg>aGg	p.K387R	MCMDC2_uc011lev.2_Missense_Mutation_p.K387R|MCMDC2_uc011lew.2_Missense_Mutation_p.K318R|MCMDC2_uc011lex.2_Missense_Mutation_p.K145R|MCMDC2_uc003xwy.4_Missense_Mutation_p.K387R	NM_173518	NP_775789	Q4G0Z9	CH045_HUMAN	Homo sapiens chromosome 8 open reading frame 45 (C8orf45), transcript variant 1, mRNA.	387					DNA replication		ATP binding|DNA binding			endometrium(2)|kidney(2)|lung(5)	9						TCCAGGAATAAGTATGGAACT	0.408000														92			7		0	0	1	0	0
CCDC82	79780	broad.mit.edu	37	11	96117847	96117847	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:96117847G>A	uc001pfx.4	-	3	279	c.65C>T	c.(64-66)tCt>tTt	p.S22F	CCDC82_uc009ywp.3_Missense_Mutation_p.S22F|CCDC82_uc009ywr.3_Missense_Mutation_p.S22F|CCDC82_uc009yws.3_Missense_Mutation_p.S22F	NM_024725	NP_079001	Q8N4S0	CCD82_HUMAN	Homo sapiens coiled-coil domain containing 82 (CCDC82), mRNA.	22							protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.154)		ATCAACTCGAGATTTCTGCTC	0.348000														29			20		0	0	1	0	0
IFIH1	64135	broad.mit.edu	37	2	163136557	163136557	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:163136557G>A	uc002uce.3	-	7	1812	c.1590C>T	c.(1588-1590)aaC>aaT	p.N530N		NM_022168	NP_071451	Q9BYX4	IFIH1_HUMAN	Homo sapiens interferon induced with helicase C domain 1 (IFIH1), mRNA.	530					detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis	cytosol|nucleus	ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						CCTGTATTTGGTTTTTCAGTT	0.328000														33			24		0	0	1	0	0
CAMSAP2	23271	broad.mit.edu	37	1	200817991	200817991	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:200817991T>G	uc001gvl.3	+	11	2397	c.2127T>G	c.(2125-2127)aaT>aaG	p.N709K	CAMSAP2_uc001gvk.3_Missense_Mutation_p.N698K|CAMSAP2_uc001gvm.3_Missense_Mutation_p.N682K	NM_203459	NP_982284	Q08AD1	CAMP2_HUMAN	Homo sapiens calmodulin regulated spectrin-associated protein family, member 2 (CAMSAP2), mRNA.	709						cytoplasm|microtubule	protein binding										GGAAACTGAATCATACCGATG	0.418000														80			11		0	0	1	0	0
PTPRO	5800	broad.mit.edu	37	12	15654589	15654589	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:15654589G>A	uc001rcv.2	+	4	1167	c.697G>A	c.(697-699)Gta>Ata	p.V233I	PTPRO_uc001rcw.2_Missense_Mutation_p.V233I|PTPRO_uc001rcu.2_Missense_Mutation_p.V233I	NM_030667	NP_109592	Q16827	PTPRO_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, O (PTPRO), transcript variant 1, mRNA.	233						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.V233I(2)|p.I232I(1)		NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				CGTTCGTATCGTAAACTTGAA	0.338000														36			23		0	0	1	0	0
EPB41L4B	54566	broad.mit.edu	37	9	111979388	111979388	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:111979388G>A	uc004bdz.1	-	15	1742	c.1447C>T	c.(1447-1449)Cgg>Tgg	p.R483W		NM_019114	NP_061987	Q9H329	E41LB_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1 like 4B (EPB41L4B), transcript variant 2, mRNA.	483						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AAAGGCAACCGGTCCGAGCTG	0.567000														28			14		0	0	1	0	0
BCR	613	broad.mit.edu	37	22	23603637	23603637	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:23603637C>T	uc002zww.3	+	3	2258	c.1662C>T	c.(1660-1662)taC>taT	p.Y554Y	BCR_uc002zwx.3_Silent_p.Y554Y|BCR_uc011aiy.2_Silent_p.Y143Y|BCR_uc010gtx.1_Silent_p.Y57Y|FBXW4P1_uc010gty.3_5'Flank	NM_004327	NP_004318	P11274	BCR_HUMAN	Homo sapiens breakpoint cluster region (BCR), transcript variant 1, mRNA.	554	DH.				regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|protein serine/threonine kinase activity		BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35						CTGAGCTCTACGAGATCCACA	0.587000			T	"""ABL1,  FGFR1, JAK2 """	"""CML, ALL, AML"""									42			33		0	0	1	0	0
TFR2	7036	broad.mit.edu	37	7	100218520	100218520	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100218520G>A	uc003uvv.1	-	17	2435	c.2366C>T	c.(2365-2367)gCg>gTg	p.A789V	TFR2_uc010lhc.1_Missense_Mutation_p.A330V|TFR2_uc003uvu.1_Missense_Mutation_p.A618V	NM_003227	NP_003218	Q9UP52	TFR2_HUMAN	Homo sapiens transferrin receptor 2 (TFR2), transcript variant 1, mRNA.	789					cellular iron ion homeostasis|iron ion transport|proteolysis	cytoplasm|integral to plasma membrane	peptidase activity|transferrin receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					CCCGCTAAGCGCATTGGCTGC	0.632000														35			17		0	0	1	0	0
DNM3	26052	broad.mit.edu	37	1	172348281	172348281	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:172348281G>T	uc001gie.3	+	17	2193	c.2017G>T	c.(2017-2019)Gat>Tat	p.D673Y	DNM3_uc001gif.3_Missense_Mutation_p.D669Y|DNM3_uc001gih.1_Missense_Mutation_p.D29Y	NM_015569	NP_056384	Q9UQ16	DYN3_HUMAN	Homo sapiens dynamin 3 (DNM3), transcript variant 1, mRNA.	679	GED.				endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding	p.R672Q(1)		NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						ATGTATCCGAGATCTAATTCC	0.398000														31			5		1.23904e-05	1.3743e-05	1	1	0
GUCY2C	2984	broad.mit.edu	37	12	14840925	14840925	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:14840925C>T	uc001rcd.3	-	1	427	c.290G>A	c.(289-291)aGt>aAt	p.S97N	GUCY2C_uc009zhz.2_Missense_Mutation_p.S97N	NM_004963	NP_004954	P25092	GUC2C_HUMAN	Homo sapiens guanylate cyclase 2C (heat stable enterotoxin receptor) (GUCY2C), mRNA.	97					intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						ACAGGTGCTACTCCGGCAGTC	0.483000														31			28		0	0	1	0	0
RECQL4	9401	broad.mit.edu	37	8	145739847	145739847	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:145739847T>C	uc003zdj.3	-	9	1725	c.1683A>G	c.(1681-1683)caA>caG	p.Q561Q		NM_004260	NP_004251	O94761	RECQ4_HUMAN	Homo sapiens RecQ protein-like 4 (RECQL4), mRNA.	561	Helicase ATP-binding.				DNA duplex unwinding|DNA recombination|DNA repair	cytoplasm|nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|DNA strand annealing activity|bubble DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			CAGATTCCCGTTGCTTCCTGG	0.647000			"""N, F, S"""			"""osteosarcoma, skin basal and sqamous cell"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Rothmund-Thomson syndrome;RAPADILINO syndrome;Baller-Gerold syndrome					21			3		0	0	1	0	0
RTTN	25914	broad.mit.edu	37	18	67742591	67742591	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:67742591T>G	uc002lkp.2	-	32	4629	c.4561A>C	c.(4561-4563)Aat>Cat	p.N1521H	RTTN_uc002lko.2_Non-coding_Transcript|RTTN_uc010xfb.1_Missense_Mutation_p.N609H	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN	Homo sapiens rotatin (RTTN), mRNA.	1521							binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				TACTTACCATTTAAATCATTG	0.239000														32			18		0	0	1	0	0
ECM2	1842	broad.mit.edu	37	9	95277058	95277058	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:95277058T>C	uc011lty.2	-	3	1096	c.909A>G	c.(907-909)cgA>cgG	p.R303R	CENPP_uc004arz.3_Intron|CENPP_uc010mqx.3_Intron|ECM2_uc004asf.4_Silent_p.R281R|ECM2_uc004asg.3_Silent_p.R281R	NM_001393	NP_001384	O94769	ECM2_HUMAN	Homo sapiens extracellular matrix protein 2, female organ and adipocyte specific (ECM2), transcript variant 1, mRNA.	303					cell-matrix adhesion		integrin binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						GAAGCGGGGATCGAGAGGGCA	0.607000														41			4		0	0	1	0	0
PCNX	22990	broad.mit.edu	37	14	71500206	71500206	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:71500206G>A	uc001xmo.2	+	16	4065	c.3619G>A	c.(3619-3621)Gca>Aca	p.A1207T	PCNX_uc010are.1_Missense_Mutation_p.A1096T|PCNX_uc010arf.1_Missense_Mutation_p.A67T	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	Homo sapiens pecanex homolog (Drosophila) (PCNX), mRNA.	1207						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		TTTATTAGTGGCAGTGTCTTA	0.348000														56			30		0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	227954604	227954604	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:227954604C>T	uc021vxr.1	-	19	1540	c.1439G>A	c.(1438-1440)aGa>aAa	p.R480K	COL4A4_uc021vxs.1_Missense_Mutation_p.R480K	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	480	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		TTTTGGGCCTCTTCCTCCTGG	0.488000														32			18		0	0	1	0	0
GRIN2D	2906	broad.mit.edu	37	19	48945130	48945130	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:48945130C>T	uc002pjc.4	+	10	2445	c.2357C>T	c.(2356-2358)aCg>aTg	p.T786M	GRIN2D_uc010elx.3_Missense_Mutation_p.T21M	NM_000836	NP_000827	O15399	NMDE4_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2D (GRIN2D), mRNA.	786						cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)	GTCTTCGCCACGACAGGCTAT	0.632000														20			6		0	0	1	0	0
EPRS	2058	broad.mit.edu	37	1	220179606	220179606	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:220179606T>G	uc001hly.1	-	14	2062	c.1792A>C	c.(1792-1794)Aac>Cac	p.N598H	RNU5F-1_uc021pjd.1_Intron|EPRS_uc010puf.1_Missense_Mutation_p.N349H|EPRS_uc001hlz.1_Missense_Mutation_p.N605H|EPRS_uc009xdt.1_Intron	NM_004446	NP_004437	P07814	SYEP_HUMAN	Homo sapiens glutamyl-prolyl-tRNA synthetase (EPRS), mRNA.	598	Glutamyl-tRNA synthetase.				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|RNA binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Glutamic Acid(DB00142)|L-Proline(DB00172)	TAGTCTTTGTTTTCCAAATTC	0.353000														87			10		0	0	1	0	0
TMEM133	83935	broad.mit.edu	37	11	100863304	100863304	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:100863304T>C	uc001pgf.3	+	0	494	c.265T>C	c.(265-267)Tca>Cca	p.S89P		NM_032021	NP_114410	Q9H2Q1	TM133_HUMAN	Homo sapiens transmembrane protein 133 (TMEM133), mRNA.	89						integral to membrane				kidney(2)|large_intestine(1)|lung(1)|prostate(1)	5		Acute lymphoblastic leukemia(157;0.000869)|all_hematologic(158;0.014)		BRCA - Breast invasive adenocarcinoma(274;0.0675)		TATCGAGTATTCATCAACTGG	0.403000														137			53		0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7579312	7579312	+	Splice_Site	SNP	C	A	A	rs55863639		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7579312C>A	uc002gim.2	-	4	569	c.375_splice	c.e4+1	p.T125_splice	TP53_uc002gig.1_Splice_Site_p.T125_splice|TP53_uc002gih.3_Splice_Site_p.T125_splice|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cni.1_Splice_Site_p.T125_splice|TP53_uc010cnh.1_Splice_Site_p.T125_splice|TP53_uc002gij.2_Splice_Site_p.T125_splice|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.2_Splice_Site_p.T86_splice|TP53_uc010cnk.1_Splice_Site_p.T140_splice	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	125	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		T -> A (in a sporadic cancer; somatic mutation).|T -> K (in sporadic cancers; somatic mutation).|T -> M (in sporadic cancers; somatic mutation).|T -> P (in a sporadic cancer; somatic mutation).|T -> R (in sporadic cancers; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.T125T(51)|p.0?(8)|p.?(2)|p.V73fs*9(1)|p.G105_T125del21(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(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)		GGCAACTGACCGTGCAAGTCA	0.537000		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)				57			15		5.3912e-06	6.03622e-06	1	1	0
SH3TC1	54436	broad.mit.edu	37	4	8233806	8233806	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:8233806C>T	uc003gkv.4	+	12	3155	c.3054C>T	c.(3052-3054)tgC>tgT	p.C1018C	SH3TC1_uc003gkw.4_Silent_p.C942C|SH3TC1_uc003gkx.4_Non-coding_Transcript|SH3TC1_uc003gky.3_Non-coding_Transcript	NM_018986	NP_061859	Q8TE82	S3TC1_HUMAN	Homo sapiens SH3 domain and tetratricopeptide repeats 1 (SH3TC1), mRNA.	1018							binding			NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						CCCTGGCCTGCAAGGTGGCCG	0.662000														26			20		0	0	1	0	0
BCAS3	54828	broad.mit.edu	37	17	59115389	59115389	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:59115389G>A	uc002iyv.4	+	18	2056	c.1947G>A	c.(1945-1947)tcG>tcA	p.S649S	BCAS3_uc010wow.1_Silent_p.S421S|BCAS3_uc002iyu.4_Silent_p.S634S|BCAS3_uc002iyw.4_Silent_p.S630S|BCAS3_uc002iyy.4_Silent_p.S405S|BCAS3_uc002iyz.4_Silent_p.S203S|BCAS3_uc002iza.4_Silent_p.S188S	NM_001099432	NP_001092902	Q9H6U6	BCAS3_HUMAN	Homo sapiens breast carcinoma amplified sequence 3 (BCAS3), transcript variant 1, mRNA.	649						nucleus				NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			TGATGACATCGCCTCGAGCCA	0.438000														41			26		0	0	1	0	0
HCN3	57657	broad.mit.edu	37	1	155258092	155258092	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155258092G>T	uc001fjz.1	+	7	2171	c.2163G>T	c.(2161-2163)caG>caT	p.Q721H	HCN3_uc010pfz.1_Missense_Mutation_p.Q416H	NM_020897	NP_065948	Q9P1Z3	HCN3_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 3 (HCN3), mRNA.	721	Pro-rich.					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CTCTGCCTCAGCGGGCAACAG	0.692000														18			3		0.000602214	0.000641151	1	1	0
BTBD16	118663	broad.mit.edu	37	10	124090749	124090749	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:124090749G>T	uc001lgc.1	+	11	1313	c.1062G>T	c.(1060-1062)caG>caT	p.Q354H	BTBD16_uc001lgd.1_Missense_Mutation_p.Q353H	NM_144587	NP_653188	Q32M84	BTBDG_HUMAN	Homo sapiens BTB (POZ) domain containing 16 (BTBD16), mRNA.	354										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1)	15		all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238)				GGCTCGACCAGGTTACAGTCA	0.463000														61			5		0.014758	0.0151755	1	1	0
GML	2765	broad.mit.edu	37	8	143922552	143922552	+	Missense_Mutation	SNP	G	A	A	rs45437692		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:143922552G>A	uc003yxg.3	+	2	182	c.92G>A	c.(91-93)tGc>tAc	p.C31Y		NM_002066	NP_002057	Q99445	GML_HUMAN	Homo sapiens glycosylphosphatidylinositol anchored molecule like protein (GML), mRNA.	31	UPAR/Ly6.				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|apoptosis|negative regulation of cell proliferation	anchored to membrane|extrinsic to membrane|plasma membrane				NS(1)|central_nervous_system(2)|endometrium(1)|large_intestine(6)|lung(8)	18	all_cancers(97;4.26e-11)|all_epithelial(106;1.85e-08)|Lung NSC(106;0.000274)|all_lung(105;0.000755)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					AGTTTGAGATGCCATGACTGT	0.478000														43			25		0	0	1	0	0
ANKRD34B	340120	broad.mit.edu	37	5	79855332	79855332	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:79855332C>T	uc010jam.3	-	3	857	c.507G>A	c.(505-507)atG>atA	p.M169I	ANKRD34B_uc003kgw.3_Missense_Mutation_p.M169I|ANKRD34B_uc010jan.3_Missense_Mutation_p.M169I|ANKRD34B_uc021yax.1_Missense_Mutation_p.M169I	NM_001004441	NP_001004441	A5PLL1	AN34B_HUMAN	Homo sapiens ankyrin repeat domain 34B (ANKRD34B), mRNA.	169						cytoplasm|nucleus				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	28		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36)		CCACAGGAGGCATATTTAAGT	0.438000														96			51		0	0	1	0	0
CORO7-PAM16	100529144	broad.mit.edu	37	16	4393218	4393218	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:4393218C>T	uc002cwf.3	-	27	3290	c.2847G>A	c.(2845-2847)caG>caA	p.Q949Q	CORO7-PAM16_uc002cwe.3_Non-coding_Transcript|CORO7-PAM16_uc002cwd.3_Silent_p.Q26Q	NM_001201479	NP_001188408			Homo sapiens CORO7-PAM16 readthrough (CORO7-PAM16), mRNA.																		CTGCAAACTCCTGCCGCAAGG	0.627000														24			13		0	0	1	0	0
C9orf84	158401	broad.mit.edu	37	9	114543212	114543212	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:114543212C>A	uc004bfr.3	-	1	198	c.63G>T	c.(61-63)gaG>gaT	p.E21D	C9orf84_uc011lwt.2_Non-coding_Transcript|C9orf84_uc004bfs.1_Missense_Mutation_p.E85D	NM_173521	NP_775792	Q5VXU9	CI084_HUMAN	Homo sapiens chromosome 9 open reading frame 84 (C9orf84), transcript variant 1, mRNA.	21										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						ATACATACTTCTCAAGGAAAT	0.368000														45			5		0.014758	0.0151755	1	1	0
SETD2	29072	broad.mit.edu	37	3	47163775	47163775	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:47163775G>T	uc003cqv.3	-	2	2404	c.2318C>A	c.(2317-2319)tCt>tAt	p.S773Y	SETD2_uc003cqs.3_Missense_Mutation_p.S784Y	NM_014159	NP_054878	Q9BYW2	SETD2_HUMAN	Homo sapiens SET domain containing 2 (SETD2), mRNA.	784					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TTTGCAGCAAGAAACCCTCGT	0.393000			"""N, F, S, Mis"""		clear cell renal carcinoma									122			16		1.52009e-12	1.87729e-12	1	1	0
PIPOX	51268	broad.mit.edu	37	17	27382238	27382238	+	Splice_Site	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:27382238C>T	uc002hdr.1	+	6	1292	c.966_splice	c.e6+1	p.T322_splice		NM_016518	NP_057602	Q9P0Z9	SOX_HUMAN	Homo sapiens pipecolic acid oxidase (PIPOX), mRNA.	322					tetrahydrofolate metabolic process	peroxisome	L-pipecolate oxidase activity|sarcosine oxidase activity			endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10	Lung NSC(42;0.015)		Epithelial(11;9.87e-06)|BRCA - Breast invasive adenocarcinoma(11;3.92e-05)|all cancers(11;5.59e-05)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		Glycine(DB00145)	TGCATGTACACGGTAAGGGGT	0.572000														96			8		0	0	1	0	0
CASC5	57082	broad.mit.edu	37	15	40913832	40913832	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:40913832G>T	uc010bbs.1	+	10	1609	c.1448G>T	c.(1447-1449)aGt>aTt	p.S483I	CASC5_uc010ucq.1_Missense_Mutation_p.S307I|CASC5_uc001zme.3_Missense_Mutation_p.S457I|CASC5_uc010bbt.1_Missense_Mutation_p.S457I	NM_170589	NP_733468	Q8NG31	CASC5_HUMAN	Homo sapiens cancer susceptibility candidate 5 (CASC5), transcript variant 1, mRNA.	483	Interaction with BUB1 and BUB1B.				CenH3-containing nucleosome assembly at centromere|acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		AAGCATGACAGTAATTATGCT	0.358000														59			5		0.000602214	0.000641151	1	1	0
CNOT1	23019	broad.mit.edu	37	16	58614634	58614634	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:58614634G>A	uc002env.3	-	11	1539	c.1246C>T	c.(1246-1248)Cca>Tca	p.P416S	CNOT1_uc002enw.3_Non-coding_Transcript|CNOT1_uc002enu.4_Missense_Mutation_p.P416S|CNOT1_uc002enx.3_Missense_Mutation_p.P416S|CNOT1_uc002enz.1_Intron	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 1 (CNOT1), transcript variant 1, mRNA.	416					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		AAGATCTCTGGATTTATAAGG	0.378000														34			24		0	0	1	0	0
UTP20	27340	broad.mit.edu	37	12	101757465	101757465	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:101757465C>A	uc001tia.1	+	44	6058	c.5902C>A	c.(5902-5904)Ctc>Atc	p.L1968I		NM_014503	NP_055318	O75691	UTP20_HUMAN	Homo sapiens UTP20, small subunit (SSU) processome component, homolog (yeast) (UTP20), mRNA.	1968					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						TTATGAAATCCTCGGCAAGTT	0.403000														46			8		0.000157383	0.000170012	1	1	0
SIRT7	51547	broad.mit.edu	37	17	79872022	79872022	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:79872022G>T	uc002kcj.2	-	7	889	c.838C>A	c.(838-840)Ctc>Atc	p.L280I	PCYT2_uc010wvb.2_5'Flank|PCYT2_uc002kce.2_5'Flank|PCYT2_uc002kch.2_5'Flank|PCYT2_uc002kci.2_5'Flank|PCYT2_uc002kcf.2_5'Flank|PCYT2_uc010wvc.2_5'Flank	NM_016538	NP_057622	Q9NRC8	SIRT7_HUMAN	Homo sapiens sirtuin 7 (SIRT7), mRNA.	280	Deacetylase sirtuin-type.				chromatin silencing|positive regulation of transcription on exit from mitosis|protein deacetylation|rRNA transcription	cytoplasm|nucleolus organizer region	NAD+ binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			ATGCACCAGAGGCGTGGGTAC	0.582000														42			18		3.52763e-06	3.96648e-06	1	1	0
OR4K5	79317	broad.mit.edu	37	14	20389536	20389536	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:20389536C>A	uc010tkw.2	+	0	771	c.771C>A	c.(769-771)atC>atA	p.I257I		NM_001005483	NP_001005483	Q8NGD3	OR4K5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 5 (OR4K5), mRNA.	257					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GCATCTTCATCTATGTGTGGC	0.408000														193			62		1.40621e-15	1.77282e-15	1	1	0
C3orf58	205428	broad.mit.edu	37	3	143708484	143708484	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:143708484A>G	uc003evo.3	+	2	1629	c.1094A>G	c.(1093-1095)cAg>cGg	p.Q365R	C3orf58_uc011bnl.2_Missense_Mutation_p.Q156R	NM_173552	NP_775823	Q8NDZ4	CC058_HUMAN	Homo sapiens chromosome 3 open reading frame 58 (C3orf58), transcript variant 1, mRNA.	365						COPI vesicle coat|extracellular region				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GCTGTTTGTCAGAACCTCTTA	0.473000														65			9		0	0	1	0	0
LAMA1	284217	broad.mit.edu	37	18	6993675	6993675	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:6993675G>A	uc002knm.3	-	34	5067	c.4973C>T	c.(4972-4974)gCc>gTc	p.A1658V	LAMA1_uc010wzj.2_Missense_Mutation_p.A1134V	NM_005559	NP_005550	P25391	LAMA1_HUMAN	Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	1658	Domain II and I.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AATGGCTATGGCCAGGTCTTG	0.453000														68			35		0	0	1	0	0
PKD1L1	168507	broad.mit.edu	37	7	47851554	47851554	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:47851554G>T	uc003tny.2	-	49	7476	c.7442C>A	c.(7441-7443)cCt>cAt	p.P2481H	C7orf69_uc003tnz.4_Intron|C7orf69_uc003toa.1_Intron|PKD1L1_uc003tob.3_Missense_Mutation_p.P208H	NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA.	2481					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						TTGGGTTGGAGGGTTATAGAG	0.587000														2			9		1.58986e-06	1.80238e-06	1	1	0
SYNE1	23345	broad.mit.edu	37	6	152792774	152792774	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:152792774G>A	uc021zhb.1	-	13	1813	c.1590C>T	c.(1588-1590)taC>taT	p.Y530Y	SYNE1_uc003qot.4_Silent_p.Y537Y|SYNE1_uc003qou.4_Silent_p.Y530Y|SYNE1_uc010kjb.1_Silent_p.Y513Y|SYNE1_uc003qpa.1_Silent_p.Y530Y|SYNE1_uc003qox.1_Silent_p.Y46Y|SYNE1_uc003qoz.2_5'UTR|SYNE1_uc003qoy.2_Silent_p.Y97Y	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	530					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding	p.K529M(1)		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)		CTCTCCTCCCGTACTTAATGA	0.443000										HNSCC(10;0.0054)				69			36		0	0	1	0	0
POSTN	10631	broad.mit.edu	37	13	38160320	38160320	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:38160320C>T	uc001uwo.4	-	6	969	c.851G>A	c.(850-852)cGa>cAa	p.R284Q	POSTN_uc001uwp.4_Missense_Mutation_p.R284Q|POSTN_uc001uwr.3_Missense_Mutation_p.R284Q|POSTN_uc001uwq.3_Missense_Mutation_p.R284Q|POSTN_uc010teu.1_Missense_Mutation_p.R284Q|POSTN_uc010tev.1_Missense_Mutation_p.R284Q|POSTN_uc010tew.1_Missense_Mutation_p.R284Q|POSTN_uc010tex.1_Missense_Mutation_p.R199Q	NM_006475	NP_006466	Q15063	POSTN_HUMAN	Homo sapiens periostin, osteoblast specific factor (POSTN), transcript variant 1, mRNA.	284	FAS1 2.				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		TAGGACACCTCGTGGAAGTTT	0.483000														33			29		0	0	1	0	0
KAT2A	2648	broad.mit.edu	37	17	40267022	40267022	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:40267022C>A	uc002hyx.2	-	12	1967	c.1907G>T	c.(1906-1908)aGc>aTc	p.S636I	DHX58_uc002hyv.3_5'Flank|DHX58_uc002hyw.3_5'Flank|DHX58_uc010wgf.1_5'Flank	NM_021078	NP_066564	Q92830	KAT2A_HUMAN	Homo sapiens K(lysine) acetyltransferase 2A (KAT2A), mRNA.	636	N-acetyltransferase.				chromatin remodeling|histone deubiquitination|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex	H3 histone acetyltransferase activity|histone deacetylase binding|protein binding|transcription coactivator activity			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						CAGGTAGCGGCTCTTGGGCAC	0.567000														175			13		3.27435e-08	3.82583e-08	1	1	0
SP100	6672	broad.mit.edu	37	2	231379976	231379976	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:231379976C>A	uc002vqt.3	+	24	2402	c.2261C>A	c.(2260-2262)cCt>cAt	p.P754H	SP100_uc002vqu.1_Intron|SP100_uc010fxp.1_Intron	NM_003113	NP_003104	P23497	SP100_HUMAN	Homo sapiens SP100 nuclear antigen (SP100), transcript variant 2, mRNA.	754					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of DNA binding|negative regulation of cellular component movement|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	PML body|cytoplasm|nuclear periphery|nucleolus	DNA binding|chromo shadow domain binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|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)		ACCTATATCCCTCCTAAAGGG	0.423000														35			16		2.31682e-05	2.55671e-05	1	1	0
CCNC	892	broad.mit.edu	37	6	100009529	100009529	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:100009529T>C	uc003pqe.3	-	2	455	c.168A>G	c.(166-168)aaA>aaG	p.K56K	LOC100130890_uc003pqc.3_Intron|CCNC_uc003pqd.3_5'UTR|CCNC_uc010kcr.3_Non-coding_Transcript|CCNC_uc010kcs.3_Silent_p.K56K|CCNC_uc011eah.2_5'UTR|CCNC_uc003pqf.3_Silent_p.K56K	NM_005190	NP_001013417	P24863	CCNC_HUMAN	Homo sapiens cyclin C (CCNC), transcript variant 1, mRNA.	56	Cyclin N-terminal.				regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	DNA-directed RNA polymerase II, holoenzyme	protein kinase binding						all_cancers(76;8.46e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.064)		GTTGTCTTAATTTAAGATGTT	0.274000														77			8		0	0	1	0	0
LMBRD2	92255	broad.mit.edu	37	5	36137525	36137525	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:36137525C>T	uc003jkb.1	-	4	802	c.387G>A	c.(385-387)atG>atA	p.M129I		NM_001007527	NP_001007528	Q68DH5	LMBD2_HUMAN	Homo sapiens LMBR1 domain containing 2 (LMBRD2), mRNA.	129						integral to membrane				breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(31;0.000146)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CATATGACTGCATAAAAGGTA	0.328000														37			16		0	0	1	0	0
KIAA2022	340533	broad.mit.edu	37	X	73960348	73960348	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:73960348A>G	uc004eby.3	-	2	4661	c.4044T>C	c.(4042-4044)caT>caC	p.H1348H		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	Homo sapiens KIAA2022 (KIAA2022), mRNA.	1348					DNA replication proofreading|DNA replication, removal of RNA primer|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TGGGATCCCCATGGTGCTCCA	0.458000														56			8		0	0	1	0	0
TRPA1	8989	broad.mit.edu	37	8	72964986	72964986	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:72964986G>T	uc003xza.3	-	13	1834	c.1659C>A	c.(1657-1659)caC>caA	p.H553Q	LOC100132891_uc011lff.2_Non-coding_Transcript|LOC100132891_uc022avt.1_Non-coding_Transcript|LOC100132891_uc003xyy.3_Non-coding_Transcript	NM_007332	NP_015628	O75762	TRPA1_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily A, member 1 (TRPA1), mRNA.	553						integral to plasma membrane		p.L552L(1)|p.H553D(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	TTGCAGCAAAGTGAAGTGCAG	0.458000														67			10		9.70103e-10	1.16071e-09	1	1	0
GMNN	51053	broad.mit.edu	37	6	24784318	24784318	+	Missense_Mutation	SNP	A	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:24784318A>T	uc003nem.3	+	4	485	c.278A>T	c.(277-279)aAt>aTt	p.N93I	GMNN_uc021ymn.1_Missense_Mutation_p.N93I|GMNN_uc003nen.3_Missense_Mutation_p.N93I|GMNN_uc021ymo.1_Missense_Mutation_p.N93I	NM_001251989	NP_001238918	O75496	GEMI_HUMAN	Homo sapiens geminin, DNA replication inhibitor (GMNN), transcript variant 2, mRNA.	93	Necessary and sufficient for interaction with IDAS.				M/G1 transition of mitotic cell cycle|negative regulation of DNA replication|negative regulation of cell cycle|negative regulation of transcription, DNA-dependent	cytosol|nucleoplasm	histone deacetylase binding			endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)	10						attttaGAAAATCCATCCTCT	0.303000														17			8		0	0	1	0	0
TMC5	79838	broad.mit.edu	37	16	19501749	19501749	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:19501749G>A	uc002dgc.4	+	17	3355	c.2606G>A	c.(2605-2607)cGa>cAa	p.R869Q	TMC5_uc010vaq.2_Missense_Mutation_p.R817Q|TMC5_uc002dgb.4_Intron|TMC5_uc010var.2_Missense_Mutation_p.R869Q|TMC5_uc002dgd.1_Missense_Mutation_p.R623Q|TMC5_uc002dge.4_Missense_Mutation_p.R623Q|TMC5_uc002dgf.4_Missense_Mutation_p.R552Q|TMC5_uc002dgg.4_Missense_Mutation_p.R510Q	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN	Homo sapiens transmembrane channel-like 5 (TMC5), transcript variant 1, mRNA.	869						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						GGCCCTTTTCGAGGTCTGCCT	0.478000														149			7		0	0	1	0	0
FBN2	2201	broad.mit.edu	37	5	127702084	127702084	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:127702084G>A	uc003kuu.3	-	16	2727	c.2288C>T	c.(2287-2289)aCt>aTt	p.T763I	FBN2_uc003kuv.2_Missense_Mutation_p.T730I	NM_001999	NP_001990	P35556	FBN2_HUMAN	Homo sapiens fibrillin 2 (FBN2), mRNA.	763					bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TCCATCCACAGTGATACCTAC	0.299000														19			11		0	0	1	0	0
IL11RA	3590	broad.mit.edu	37	9	34658656	34658656	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:34658656G>A	uc003zvi.3	+	7	2142	c.786G>A	c.(784-786)ccG>ccA	p.P262P	IL11RA_uc011loq.2_Silent_p.P262P|IL11RA_uc003zvj.3_Silent_p.P262P|IL11RA_uc003zvk.3_Silent_p.P262P|IL11RA_uc010mke.3_Silent_p.P144P	NM_004512	NP_004503	Q14626	I11RA_HUMAN	Homo sapiens interleukin 11 receptor, alpha (IL11RA), transcript variant 1, mRNA.	262	Fibronectin type-III 2.					integral to plasma membrane	cytokine receptor activity			breast(1)|large_intestine(1)|ovary(1)|skin(1)	4	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.174)	Oprelvekin(DB00038)	AGTACCGTCCGGCGCAGCATC	0.627000														39			17		0	0	1	0	0
AKAP6	9472	broad.mit.edu	37	14	33292407	33292407	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:33292407C>A	uc001wrq.3	+	12	5558	c.5388C>A	c.(5386-5388)gaC>gaA	p.D1796E		NM_004274	NP_004265	Q13023	AKAP6_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 6 (AKAP6), mRNA.	1796					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)		CAGGGCTAGACTACATAAAGA	0.403000														36			26		1.17739e-12	1.4548e-12	1	1	0
THSD4	79875	broad.mit.edu	37	15	72063538	72063538	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:72063538C>T	uc002atb.1	+	15	2984	c.2905C>T	c.(2905-2907)Cct>Tct	p.P969S	THSD4_uc002ate.2_Missense_Mutation_p.P609S|THSD4_uc002atg.1_Missense_Mutation_p.P172S	NM_024817	NP_079093	Q6ZMP0	THSD4_HUMAN	Homo sapiens thrombospondin, type I, domain containing 4 (THSD4), mRNA.	969						proteinaceous extracellular matrix	metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						GGACTGTGTCCCTGAAGTTGG	0.448000														51			46		0	0	1	0	0
ANKRD13A	88455	broad.mit.edu	37	12	110463620	110463620	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:110463620G>T	uc001tpx.3	+	7	1134	c.875G>T	c.(874-876)aGa>aTa	p.R292I	ANKRD13A_uc009zvl.1_Non-coding_Transcript|ANKRD13A_uc010sxw.2_Missense_Mutation_p.R292I|ANKRD13A_uc001tpy.3_5'UTR|ANKRD13A_uc001tpz.3_5'Flank	NM_033121	NP_149112	Q8IZ07	AN13A_HUMAN	Homo sapiens ankyrin repeat domain 13A (ANKRD13A), mRNA.	292										endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(8)|lung(3)|urinary_tract(1)	16						GAAAAAAAGAGATATAAAGGT	0.398000														58			16		6.31663e-08	7.34157e-08	1	1	0
IFFO1	25900	broad.mit.edu	37	12	6658995	6658995	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:6658995C>T	uc010sfe.2	-	3	1052	c.998G>A	c.(997-999)cGc>cAc	p.R333H	IFFO1_uc001qoy.3_Non-coding_Transcript|IFFO1_uc001qoz.2_5'Flank|IFFO1_uc001qpa.2_5'Flank|IFFO1_uc001qpb.1_Missense_Mutation_p.R10H|IFFO1_uc001qpc.2_Missense_Mutation_p.R333H|IFFO1_uc001qpf.2_Missense_Mutation_p.R333H|IFFO1_uc001qpe.2_Non-coding_Transcript|IFFO1_uc001qpg.3_5'Flank	NM_001193457	NP_001180386	Q0D2I5	IFFO1_HUMAN	Homo sapiens intermediate filament family orphan 1 (IFFO1), transcript variant 5, mRNA.	333						intermediate filament				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	20						GATGTCGATGCGGCGGCAGAT	0.597000														20			10		0	0	1	0	0
SIKE1	80143	broad.mit.edu	37	1	115321893	115321893	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:115321893G>A	uc001efp.4	-	2	370	c.290C>T	c.(289-291)tCc>tTc	p.S97F	SIKE1_uc001efo.4_Missense_Mutation_p.S93F	NM_001102396	NP_001095866	Q9BRV8	SIKE1_HUMAN	Homo sapiens suppressor of IKBKE 1 (SIKE1), transcript variant 1, mRNA.	93						cytosol	protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	6						TTCCTCCAAGGAAATCCATAG	0.388000														79			5		0	0	1	0	0
OR1Q1	158131	broad.mit.edu	37	9	125377139	125377139	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:125377139C>T	uc011lyy.2	+	0	123	c.123C>T	c.(121-123)ggC>ggT	p.G41G		NM_012364	NP_036496	Q15612	OR1Q1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily Q, member 1 (OR1Q1), mRNA.	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	17						ATATTTCTGGCAACTTGGCCA	0.478000														121			10		0	0	1	0	0
SUSD2	56241	broad.mit.edu	37	22	24581676	24581676	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:24581676C>T	uc002zzn.1	+	7	1162	c.1118C>T	c.(1117-1119)aCg>aTg	p.T373M		NM_019601	NP_062547	Q9UGT4	SUSD2_HUMAN	Homo sapiens sushi domain containing 2 (SUSD2), mRNA.	373	AMOP.				immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						GCGGACGGGACGCAGCTCCTG	0.701000														5			4		0	0	1	0	0
MFAP2	4237	broad.mit.edu	37	1	17303391	17303391	+	Splice_Site	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:17303391C>A	uc001azw.3	-	4	287	c.154_splice	c.e4+1	p.E52_splice	MFAP2_uc001azx.3_Splice_Site_p.E51_splice|MFAP2_uc001azy.3_Splice_Site_p.E52_splice|MFAP2_uc010ocl.2_Splice_Site_p.E51_splice	NM_002403	NP_059453	P55001	MFAP2_HUMAN	Homo sapiens microfibrillar-associated protein 2 (MFAP2), transcript variant 2, mRNA.	52						microfibril				kidney(1)|lung(1)	2		Colorectal(325;3.46e-05)|Breast(348;0.000118)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000538)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|COAD - Colon adenocarcinoma(227;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;3.04e-05)|Kidney(64;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00544)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		TAGCCCGTTACCTTGATAATC	0.582000														116			58		6.70656e-16	8.47302e-16	1	1	0
ALCAM	214	broad.mit.edu	37	3	105253607	105253607	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:105253607G>A	uc003dvx.3	+	5	1344	c.648G>A	c.(646-648)atG>atA	p.M216I	ALCAM_uc003dvw.2_Missense_Mutation_p.M216I|ALCAM_uc003dvy.3_Missense_Mutation_p.M216I|ALCAM_uc011bhh.1_Missense_Mutation_p.M165I|ALCAM_uc010hpp.3_Missense_Mutation_p.M25I	NM_001627	NP_001618	Q13740	CD166_HUMAN	Homo sapiens activated leukocyte cell adhesion molecule (ALCAM), transcript variant 1, mRNA.	216	Ig-like V-type 2.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						ACATACAAATGCCATTCACCT	0.398000														77			42		0	0	1	0	0
LRRN2	10446	broad.mit.edu	37	1	204587656	204587656	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:204587656C>T	uc021phy.1	-	0	1465	c.1465G>A	c.(1465-1467)Gca>Aca	p.A489T	MDM4_uc001hbd.2_Intron|LRRN2_uc001hbe.1_Missense_Mutation_p.A489T|LRRN2_uc001hbf.1_Missense_Mutation_p.A489T|LRRN2_uc009xbf.1_Missense_Mutation_p.A489T|MDM4_uc001hbc.3_Intron	NM_201630	NP_963924	O75325	LRRN2_HUMAN	Homo sapiens leucine rich repeat neuronal 2 (LRRN2), transcript variant 2, mRNA.	489	Ig-like C2-type.				cell adhesion	integral to membrane	receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			GCCTCTTCTGCTGTCACCCTC	0.637000														26			15		0	0	1	0	0
UBP1	7342	broad.mit.edu	37	3	33441687	33441687	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:33441687A>C	uc003cfq.4	-	10	1704	c.1174T>G	c.(1174-1176)Ttt>Gtt	p.F392V	FBXL2_uc011axr.1_Intron|FBXL2_uc011axq.1_Intron|UBP1_uc003cfr.4_Missense_Mutation_p.F356V|UBP1_uc010hga.3_Missense_Mutation_p.F392V	NM_014517	NP_055332	Q9NZI7	UBIP1_HUMAN	Homo sapiens upstream binding protein 1 (LBP-1a) (UBP1), transcript variant 1, mRNA.	392					negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|viral genome replication	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|urinary_tract(2)	23						ATACCTGAAAAATTAGAGAAC	0.328000														48			7		0	0	1	0	0
PITPNB	23760	broad.mit.edu	37	22	28306976	28306976	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:28306976G>A	uc011akh.2	-	2	251	c.179C>T	c.(178-180)aCg>aTg	p.T60M	PITPNB_uc003adk.3_Missense_Mutation_p.T58M|PITPNB_uc003adl.3_Missense_Mutation_p.T58M	NM_012399	NP_036531	P48739	PIPNB_HUMAN	Homo sapiens phosphatidylinositol transfer protein, beta (PITPNB), mRNA.	58					lipid metabolic process|transport	Golgi apparatus	lipid binding			large_intestine(4)|lung(3)|skin(1)	8						AATTTTGTGCGTATACTGTCC	0.398000														64			29		0	0	1	0	0
AKAP13	11214	broad.mit.edu	37	15	86087014	86087014	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:86087014C>T	uc002blv.1	+	4	660	c.490C>T	c.(490-492)Cga>Tga	p.R164*	AKAP13_uc002blt.1_Nonsense_Mutation_p.R164*|AKAP13_uc002blu.1_Nonsense_Mutation_p.R164*	NM_007200	NP_009131	Q12802	AKP13_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 13 (AKAP13), transcript variant 2, mRNA.	164					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	Rho guanyl-nucleotide exchange factor activity|cAMP-dependent protein kinase activity|metal ion binding|protein binding|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						TGCTGGCCCGCGAGAGACATT	0.458000														24			12		0	0	1	0	0
AP1B1	162	broad.mit.edu	37	22	29724848	29724848	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:29724848G>A	uc003afj.3	-	22	2999	c.2812C>T	c.(2812-2814)Cac>Tac	p.H938Y	AP1B1_uc003afl.3_Missense_Mutation_p.H908Y|AP1B1_uc003afi.3_Missense_Mutation_p.H928Y|AP1B1_uc003afh.3_3'UTR|AP1B1_uc011ako.2_Missense_Mutation_p.H488Y	NM_001127	NP_001118	Q10567	AP1B1_HUMAN	Homo sapiens adaptor-related protein complex 1, beta 1 subunit (AP1B1), transcript variant 1, mRNA.	938					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	Golgi membrane|clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|lysosomal membrane	protein binding|protein transporter activity			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						TGGTACACGTGCTGGGACACC	0.657000														9			6		0	0	1	0	0
DLC1	10395	broad.mit.edu	37	8	13356716	13356716	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:13356716A>G	uc003wwm.2	-	1	1309	c.865T>C	c.(865-867)Tca>Cca	p.S289P	DLC1_uc003wwn.3_Missense_Mutation_p.S289P|DLC1_uc011kxy.2_Missense_Mutation_p.S289P	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	Homo sapiens deleted in liver cancer 1 (DLC1), transcript variant 1, mRNA.	289					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of Rho protein signal transduction|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						TTTTCAGCTGACATTCCATTG	0.433000														88			53		0	0	1	0	0
NUF2	83540	broad.mit.edu	37	1	163317594	163317594	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:163317594A>C	uc001gcq.1	+	11	1290	c.990A>C	c.(988-990)gaA>gaC	p.E330D	NUF2_uc001gcr.1_Missense_Mutation_p.E330D	NM_145697	NP_663735	Q9BZD4	NUF2_HUMAN	Homo sapiens NUF2, NDC80 kinetochore complex component, homolog (S. cerevisiae) (NUF2), transcript variant 1, mRNA.	330	Interaction with the N-terminus of NDC80.				cell division|chromosome segregation|mitotic prometaphase	Ndc80 complex|condensed chromosome kinetochore|cytosol|nucleus	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	all_hematologic(923;0.101)					ATGAGTCAGAACTGAAGAAAT	0.318000														42			21		0	0	1	0	0
G6PD	2539	broad.mit.edu	37	X	153762600	153762600	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153762600G>A	uc004fly.1	-	5	710	c.597C>T	c.(595-597)atC>atT	p.I199I	G6PD_uc004flx.1_Silent_p.I229I	NM_001042351	NP_001035810	P11413	G6PD_HUMAN	Homo sapiens glucose-6-phosphate dehydrogenase (G6PD), transcript variant 2, mRNA.	199					cellular response to oxidative stress|cholesterol biosynthetic process|cytokine production|erythrocyte maturation|glucose 6-phosphate metabolic process|glutathione metabolic process|negative regulation of protein glutathionylation|pentose-phosphate shunt, oxidative branch|ribose phosphate biosynthetic process	centrosome|cytosol|internal side of plasma membrane|intracellular membrane-bounded organelle	NADP binding|glucose binding|glucose-6-phosphate dehydrogenase activity|protein homodimerization activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(3)|ovary(4)	18	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGTAGTGGTCGATGCGGTAGA	0.632000														32			22		0	0	1	0	0
SNX13	23161	broad.mit.edu	37	7	17836527	17836527	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:17836527G>T	uc003stv.3	-	24	2762	c.2549C>A	c.(2548-2550)gCt>gAt	p.A850D	SNX13_uc010kuc.3_Missense_Mutation_p.A647D|SNX13_uc003stw.1_Missense_Mutation_p.A861D|SNX13_uc010kub.3_Missense_Mutation_p.A256D	NM_015132	NP_055947	Q9Y5W8	SNX13_HUMAN	Homo sapiens sorting nexin 13 (SNX13), mRNA.	861					cell communication|intracellular protein transport|negative regulation of signal transduction|positive regulation of GTPase activity	early endosome membrane	phosphatidylinositol binding|signal transducer activity			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(10;0.0261)|all_lung(11;0.0521)					GCATGGAACAGCCTCTGCTAA	0.323000														126			9		3.86212e-05	4.23294e-05	1	1	0
PIK3R4	30849	broad.mit.edu	37	3	130452730	130452730	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:130452730T>C	uc003enj.3	-	3	1693	c.1112A>G	c.(1111-1113)aAg>aGg	p.K371R		NM_014602	NP_055417	Q99570	PI3R4_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 4 (PIK3R4), mRNA.	371					fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						CCCATTTTCCTTAGGCTCTCC	0.423000														131			10		0	0	1	0	0
BECN1	8678	broad.mit.edu	37	17	40970838	40970838	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:40970838G>A	uc002ibo.3	-	4	453	c.318C>T	c.(316-318)ggC>ggT	p.G106G	BECN1_uc010whb.1_Silent_p.G19G|BECN1_uc010whc.1_Intron|BECN1_uc002ibn.2_Silent_p.G106G	NM_003766	NP_003757	Q14457	BECN1_HUMAN	Homo sapiens beclin 1, autophagy related (BECN1), mRNA.	106					anti-apoptosis|cell cycle|cellular defense response|cytokinesis|response to virus	membrane	protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	13		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0745)		CCATGGTGCCGCCATCAGATG	0.597000														33			18		0	0	1	0	0
FAM107B	83641	broad.mit.edu	37	10	14563963	14563963	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:14563963G>A	uc001ina.1	-	3	943	c.709C>T	c.(709-711)Cga>Tga	p.R237*	FAM107B_uc010qbu.1_Non-coding_Transcript|FAM107B_uc001imx.1_Nonsense_Mutation_p.R62*|FAM107B_uc009xjg.1_Nonsense_Mutation_p.R62*|FAM107B_uc001imy.1_Nonsense_Mutation_p.R62*|FAM107B_uc001imz.1_Nonsense_Mutation_p.R62*	NM_031453	NP_113641	Q9H098	F107B_HUMAN	Homo sapiens family with sequence similarity 107, member B (FAM107B), mRNA.	62								p.R237Q(3)		breast(7)|kidney(1)|large_intestine(4)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						ACTTGGTCTCGTTTTCTTTTT	0.398000														49			24		0	0	1	0	0
IQGAP2	10788	broad.mit.edu	37	5	75969777	75969777	+	Splice_Site	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:75969777T>C	uc003kek.3	+	26	3432	c.3210_splice	c.e26-1	p.P1070_splice	IQGAP2_uc011csv.2_Splice_Site_p.P566_splice|IQGAP2_uc003kel.3_Splice_Site_p.P566_splice|IQGAP2_uc010izw.1_5'Flank	NM_006633	NP_006624	Q13576	IQGA2_HUMAN	Homo sapiens IQ motif containing GTPase activating protein 2 (IQGAP2), mRNA.	1070	Ras-GAP.				small GTPase mediated signal transduction	actin cytoskeleton	GTPase inhibitor activity|Ras GTPase activator activity|actin binding|calmodulin binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		TTATATGTAGTTATGGATTGA	0.363000														76			7		0	0	1	0	0
ILF3	3609	broad.mit.edu	37	19	10781697	10781697	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10781697G>T	uc002mpn.3	+	2	368	c.51G>T	c.(49-51)aaG>aaT	p.K17N	ILF3_uc010xli.1_Intron|ILF3_uc002mpm.2_Missense_Mutation_p.K17N|ILF3_uc002mpl.2_Missense_Mutation_p.K17N|ILF3_uc002mpk.2_Missense_Mutation_p.K17N|ILF3_uc002mpo.3_Missense_Mutation_p.K17N	NM_012218	NP_036350	Q12906	ILF3_HUMAN	Homo sapiens interleukin enhancer binding factor 3, 90kDa (ILF3), transcript variant 1, mRNA.	17					M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			TGATGGCAAAGCATTCTTCCG	0.488000														15			5		2.0095e-06	2.27092e-06	1	1	0
LMLN	89782	broad.mit.edu	37	3	197702952	197702952	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:197702952G>A	uc010iar.3	+	3	423	c.401G>A	c.(400-402)cGt>cAt	p.R134H	LMLN_uc003fyt.3_Missense_Mutation_p.R82H|LMLN_uc011buo.2_Missense_Mutation_p.R134H|LMLN_uc010ias.3_Missense_Mutation_p.R82H|LMLN_uc003fyu.3_5'UTR	NM_001136049	NP_001129521	Q96KR4	LMLN_HUMAN	Homo sapiens leishmanolysin-like (metallopeptidase M8 family) (LMLN), transcript variant 1, mRNA.	134					cell adhesion|cell division|mitosis|proteolysis	cytoplasm|membrane	metalloendopeptidase activity|zinc ion binding	p.V133V(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)		TTTCAGGTCCGTCGACCTGCG	0.363000														13			19		0	0	1	0	0
PCSK5	5125	broad.mit.edu	37	9	78638728	78638728	+	Silent	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:78638728A>C	uc004akc.2	+	3	1024	c.486A>C	c.(484-486)ggA>ggC	p.G162G	PCSK5_uc004ajy.2_Silent_p.G162G|PCSK5_uc004ajz.3_Silent_p.G162G|PCSK5_uc004aka.3_Non-coding_Transcript	NM_001190482	NP_001177411	Q92824	PCSK5_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 5 (PCSK5), transcript variant 1, mRNA.	162	Catalytic.				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	Golgi lumen|extracellular space|stored secretory granule	peptide binding|serine-type endopeptidase activity	p.T161T(1)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						GCTACACGGGAAAGAACATTG	0.473000														69			5		0	0	1	0	0
SVIL	6840	broad.mit.edu	37	10	29811375	29811375	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:29811375A>G	uc001iut.1	-	15	4106	c.3353T>C	c.(3352-3354)cTt>cCt	p.L1118P	SVIL_uc010qdw.1_Missense_Mutation_p.L16P|SVIL_uc001iuu.1_Missense_Mutation_p.L692P	NM_021738	NP_068506	O95425	SVIL_HUMAN	Homo sapiens supervillin (SVIL), transcript variant 2, mRNA.	1118					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				GGGTGAGTCAAGAAGGCCCTC	0.488000														28			20		0	0	1	0	0
ZBTB7B	51043	broad.mit.edu	37	1	154988695	154988695	+	Splice_Site	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:154988695G>T	uc001fgj.4	+	6	1542	c.1257_splice	c.e6-1	p.R419_splice	ZBTB7B_uc009wpa.3_Splice_Site_p.R385_splice|ZBTB7B_uc001fgk.4_Splice_Site_p.R385_splice|ZBTB7B_uc010peq.2_Splice_Site_p.R419_splice|ZBTB7B_uc001fgl.4_Splice_Site_p.R385_splice	NM_015872	NP_056956	O15156	ZBT7B_HUMAN	Homo sapiens zinc finger and BTB domain containing 7B (ZBTB7B), transcript variant 1, mRNA.	385					cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GCCTGTGCCAGGAACGACAAG	0.637000														42			11		1.67772e-17	2.13975e-17	1	1	0
PTPRD	5789	broad.mit.edu	37	9	8460414	8460414	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:8460414T>G	uc003zkk.3	-	32	4615	c.3872A>C	c.(3871-3873)aAa>aCa	p.K1291T	PTPRD_uc003zkp.3_Missense_Mutation_p.K880T|PTPRD_uc003zkq.3_Missense_Mutation_p.K880T|PTPRD_uc003zkr.3_Missense_Mutation_p.K875T|PTPRD_uc003zks.3_Missense_Mutation_p.K870T|PTPRD_uc022bdj.1_Missense_Mutation_p.K877T	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	1291					transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		AACCTACCTTTTATAAAGAAG	0.398000										TSP Lung(15;0.13)				47			30		0	0	1	0	0
ZNF549	256051	broad.mit.edu	37	19	58049264	58049264	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58049264C>T	uc002qpb.2	+	3	1141	c.892C>T	c.(892-894)Cac>Tac	p.H298Y	ZNF549_uc002qpa.2_Missense_Mutation_p.H285Y	NM_001199295	NP_001186224	Q6P9A3	ZN549_HUMAN	Homo sapiens zinc finger protein 549 (ZNF549), transcript variant 1, mRNA.	298					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GCAGAGAATTCACACTAGAGA	0.433000														74			48		0	0	1	0	0
KIF13B	23303	broad.mit.edu	37	8	29048567	29048567	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:29048567G>A	uc003xhh.4	-	3	229	c.170C>T	c.(169-171)gCt>gTt	p.A57V	KIF13B_uc003xhj.2_Intron|KIF13B_uc010lvf.1_5'UTR|KIF13B_uc003xhk.2_Missense_Mutation_p.L53F	NM_015254	NP_056069	Q9NQT8	KI13B_HUMAN	Homo sapiens kinesin family member 13B (KIF13B), mRNA.	57	Kinesin-motor.				T cell activation|microtubule-based movement|protein targeting|signal transduction	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		ATGATCATAAGCAAACACCTG	0.343000														73			34		0	0	1	0	0
VCAN	1462	broad.mit.edu	37	5	82835797	82835797	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:82835797G>A	uc003kii.3	+	7	7331	c.6975G>A	c.(6973-6975)ggG>ggA	p.G2325G	VCAN_uc003kij.3_Silent_p.G1338G|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Silent_p.G989G	NM_004385	NP_004376	P13611	CSPG2_HUMAN	Homo sapiens versican (VCAN), transcript variant 1, mRNA.	2325	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		AAGGTAGTGGGTCAGTAACCA	0.443000														56			37		0	0	1	0	0
ARID1B	57492	broad.mit.edu	37	6	157502224	157502224	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:157502224C>T	uc003qqp.3	+	10	3218	c.3218C>T	c.(3217-3219)cCt>cTt	p.P1073L	ARID1B_uc003qqo.3_Missense_Mutation_p.P1086L|ARID1B_uc003qqn.3_Missense_Mutation_p.P1126L	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN	Homo sapiens AT rich interactive domain 1B (SWI1-like) (ARID1B), transcript variant 1, mRNA.	1073	ARID.				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		AGAGGCTCTCCTGTCTCAAGT	0.562000														33			17		0	0	1	0	0
CDC16	8881	broad.mit.edu	37	13	115012436	115012436	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:115012436C>T	uc001vuk.1	+	10	1126	c.928C>T	c.(928-930)Ctc>Ttc	p.L310F	CDC16_uc001vul.1_Missense_Mutation_p.L310F|CDC16_uc001vum.1_Missense_Mutation_p.L216F|CDC16_uc001vun.1_Missense_Mutation_p.L309F|CDC16_uc001vuo.1_Missense_Mutation_p.L309F	NM_003903	NP_003894	Q13042	CDC16_HUMAN	Homo sapiens cell division cycle 16 homolog (S. cerevisiae) (CDC16), transcript variant 1, mRNA.	310					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cell proliferation|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	binding			endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)			ATGTTACTATCTCATGGTCGG	0.328000														47			18		0	0	1	0	0
HNF4G	3174	broad.mit.edu	37	8	76472629	76472629	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:76472629T>C	uc003yaq.3	+	9	1303	c.1033T>C	c.(1033-1035)Tct>Cct	p.S345P	HNF4G_uc003yar.3_Missense_Mutation_p.S382P	NM_004133	NP_004124	Q14541	HNF4G_HUMAN	Homo sapiens hepatocyte nuclear factor 4, gamma (HNF4G), mRNA.	345					endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			TCCACATTTGTCTCAAGACCC	0.393000														53			5		0	0	1	0	0
GLA	2717	broad.mit.edu	37	X	100662836	100662836	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:100662836A>C	uc004ehl.1	-	0	166	c.56T>G	c.(55-57)cTg>cGg	p.L19R	RPL36A-HNRNPH2_uc022cag.1_Intron|RPL36A-HNRNPH2_uc022cah.1_Intron|HNRNPH2_uc004ehm.3_5'Flank|HNRNPH2_uc004ehn.3_5'Flank|GLA_uc011mrj.1_Missense_Mutation_p.L19R	NM_000169	NP_000160	P06280	AGAL_HUMAN	Homo sapiens galactosidase, alpha (GLA), mRNA.	19					glycoside catabolic process|glycosphingolipid catabolic process|glycosylceramide catabolic process|negative regulation of nitric oxide biosynthetic process|negative regulation of nitric-oxide synthase activity|oligosaccharide metabolic process	Golgi apparatus|extracellular region|lysosome	cation binding|protein homodimerization activity|raffinose alpha-galactosidase activity|receptor binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(8)	14					Agalsidase beta(DB00103)	AACGAGGGCCAGGAAGCGAAG	0.602000														98			12		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179587650	179587650	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179587650C>T	uc021vsy.1	-	72	18469	c.18244G>A	c.(18244-18246)Gtt>Att	p.V6082I	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.V2743I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	7009	Ig-like 42.						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)			AGTTCCGTAACAAAATAAGGC	0.403000														17			5		0	0	1	0	0
APBB2	323	broad.mit.edu	37	4	40825774	40825774	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:40825774T>G	uc003gvn.3	-	15	2449	c.1819A>C	c.(1819-1821)Atg>Ctg	p.M607L	APBB2_uc010ifu.3_Missense_Mutation_p.M178L|APBB2_uc003gvl.3_Missense_Mutation_p.M606L|APBB2_uc003gvm.3_Missense_Mutation_p.M584L|APBB2_uc003gvk.3_Missense_Mutation_p.M58L|APBB2_uc021xnt.1_Missense_Mutation_p.M58L	NM_004307	NP_004298	Q92870	APBB2_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family B, member 2 (APBB2), transcript variant 1, mRNA.	606	PID 2.				cell cycle arrest|intracellular signal transduction|negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|regulation of transcription, DNA-dependent	growth cone|lamellipodium|membrane|nucleus|synapse	beta-amyloid binding|transcription factor binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						AAAATATCCATTCCTGGGGAC	0.448000														23			14		0	0	1	0	0
FAM118A	55007	broad.mit.edu	37	22	45728465	45728465	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:45728465T>C	uc003bfz.4	+	6	1427	c.811T>C	c.(811-813)Ttc>Ctc	p.F271L	FAM118A_uc003bga.4_Missense_Mutation_p.F271L|FAM118A_uc011aqr.2_Missense_Mutation_p.F89L	NM_001104595	NP_060381	Q9NWS6	F118A_HUMAN	Homo sapiens family with sequence similarity 118, member A (FAM118A), transcript variant 1, mRNA.	271						integral to membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	11		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		TGAAGACCATTTCTTTAAGCA	0.463000														57			38		0	0	1	0	0
PDS5A	23244	broad.mit.edu	37	4	39878617	39878617	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:39878617G>A	uc003guv.4	-	18	2689	c.2149C>T	c.(2149-2151)Cga>Tga	p.R717*		NM_001100399	NP_001093869	Q29RF7	PDS5A_HUMAN	Homo sapiens PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae) (PDS5A), transcript variant 1, mRNA.	717					cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						ACTCACGATCGTATCTGGGGA	0.383000														24			12		0	0	1	0	0
LPO	4025	broad.mit.edu	37	17	56329583	56329583	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:56329583G>A	uc002ivt.3	+	7	1137	c.821G>A	c.(820-822)tGc>tAc	p.C274Y	LPO_uc010wns.2_Missense_Mutation_p.C215Y|LPO_uc010dcp.3_Missense_Mutation_p.C191Y|LPO_uc010dcq.3_Intron|LPO_uc010dcr.3_5'UTR	NM_006151	NP_006142	P22079	PERL_HUMAN	Homo sapiens lactoperoxidase (LPO), transcript variant 1, mRNA.	274					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						CAAGGGAAATGCATGCCTTTC	0.607000														23			17		0	0	1	0	0
CPA5	93979	broad.mit.edu	37	7	130007766	130007766	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:130007766C>T	uc010lmd.1	+	12	1678	c.1058C>T	c.(1057-1059)gCg>gTg	p.A353V	CPA5_uc003vps.2_Missense_Mutation_p.A353V|CPA5_uc003vpt.2_Intron|CPA5_uc010lme.1_Missense_Mutation_p.A353V|CPA5_uc003vpu.1_Missense_Mutation_p.A353V|AK097910_uc003vpv.1_Non-coding_Transcript	NM_001127441	NP_525124	Q8WXQ8	CBPA5_HUMAN	Homo sapiens carboxypeptidase A5 (CPA5), transcript variant 2, mRNA.	353					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			NS(2)|breast(2)|endometrium(2)|large_intestine(7)|lung(4)|ovary(3)|pancreas(1)|skin(2)	23	Melanoma(18;0.0435)					GCCAAGGATGCGGTGGAGGCC	0.602000														26			31		0	0	1	0	0
TTC13	79573	broad.mit.edu	37	1	231067615	231067615	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:231067615C>T	uc001huf.4	-	9	1034	c.992G>A	c.(991-993)gGc>gAc	p.G331D	TTC13_uc001hug.4_Missense_Mutation_p.G278D|TTC13_uc009xfj.3_Non-coding_Transcript|TTC13_uc009xfk.2_Missense_Mutation_p.G221D	NM_024525	NP_078801	Q8NBP0	TTC13_HUMAN	Homo sapiens tetratricopeptide repeat domain 13 (TTC13), transcript variant 1, mRNA.	331							binding			central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	39	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		TTCAAAATTGCCCAGTTCTCT	0.398000														53			24		0	0	1	0	0
SUSD1	64420	broad.mit.edu	37	9	114860832	114860832	+	Silent	SNP	C	T	T	rs139934700	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:114860832C>T	uc010mui.3	-	9	1433	c.1392G>A	c.(1390-1392)acG>acA	p.T464T	MIR3134_uc022bma.1_Intron|SUSD1_uc004bfu.3_Silent_p.T464T|SUSD1_uc010muj.3_Silent_p.T464T			Q6UWL2	SUSD1_HUMAN	Homo sapiens sushi domain containing 1 (SUSD1), mRNA.	464						integral to membrane	calcium ion binding		SUSD1/ROD1(2)	central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						TATAATCAGTCGTAGGGTACA	0.478000														39			23		0	0	1	0	0
DNAJC2	27000	broad.mit.edu	37	7	102956235	102956235	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:102956235C>T	uc003vbo.3	-	14	1863	c.1612G>A	c.(1612-1614)Gca>Aca	p.A538T	PMPCB_uc011kll.1_Intron|DNAJC2_uc003vbn.3_Missense_Mutation_p.A163T|DNAJC2_uc010lix.3_Missense_Mutation_p.A485T|DNAJC2_uc003vbp.3_Missense_Mutation_p.A163T	NM_014377	NP_055192	Q99543	DNJC2_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 2 (DNAJC2), transcript variant 1, mRNA.	538					'de novo' cotranslational protein folding|chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nuclear membrane	DNA binding|Hsp70 protein binding|chromatin binding|histone binding|ubiquitin binding			endometrium(1)|kidney(9)|large_intestine(6)|lung(4)|ovary(1)	21						GAAGGCGTTGCGTTGTCTGCT	0.373000														50			47		0	0	1	0	0
CTCFL	140690	broad.mit.edu	37	20	56094301	56094301	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:56094301G>A	uc010giw.1	-	3	998	c.887C>T	c.(886-888)aCg>aTg	p.T296M	CTCFL_uc010gix.1_Missense_Mutation_p.T296M|CTCFL_uc002xym.2_Missense_Mutation_p.T296M|CTCFL_uc010gjb.1_Missense_Mutation_p.T296M|CTCFL_uc010gja.1_Missense_Mutation_p.T296M|CTCFL_uc010gjc.1_Missense_Mutation_p.T296M|CTCFL_uc010gjd.1_Missense_Mutation_p.T296M|CTCFL_uc010gje.3_Missense_Mutation_p.T296M|CTCFL_uc010gjg.3_Missense_Mutation_p.T28M|CTCFL_uc010gjf.3_Missense_Mutation_p.T91M|CTCFL_uc010gjh.2_Missense_Mutation_p.T296M|CTCFL_uc010gji.2_Missense_Mutation_p.T91M|CTCFL_uc010gjj.2_Missense_Mutation_p.T296M|CTCFL_uc021wfe.1_Missense_Mutation_p.T296M|CTCFL_uc021wff.1_Non-coding_Transcript|CTCFL_uc021wfg.1_Missense_Mutation_p.T28M|CTCFL_uc010gjk.1_Missense_Mutation_p.T296M|CTCFL_uc010gjl.1_Missense_Mutation_p.T296M	NM_080618	NP_542185	Q8NI51	CTCFL_HUMAN	Homo sapiens CCCTC-binding factor (zinc finger protein)-like (CTCFL), mRNA.	296					DNA methylation involved in gamete generation|cell cycle|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			CAGAGTGACCGTACGGAAGGT	0.453000														56			40		0	0	1	0	0
CYP26B1	56603	broad.mit.edu	37	2	72360211	72360211	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:72360211G>A	uc002sih.1	-	4	1087	c.1087C>T	c.(1087-1089)Cgc>Tgc	p.R363C	CYP26B1_uc010yra.1_Missense_Mutation_p.R346C|CYP26B1_uc010yrb.1_Missense_Mutation_p.R288C	NM_019885	NP_063938	Q9NR63	CP26B_HUMAN	Homo sapiens cytochrome P450, family 26, subfamily B, polypeptide 1 (CYP26B1), mRNA.	363					cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						GTGAACAGGCGCATGACCTCC	0.672000														24			13		0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8471069	8471069	+	Missense_Mutation	SNP	T	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:8471069T>A	uc003zkk.3	-	30	4173	c.3430A>T	c.(3430-3432)Att>Ttt	p.I1144F	PTPRD_uc003zkp.3_Missense_Mutation_p.I733F|PTPRD_uc003zkq.3_Missense_Mutation_p.I733F|PTPRD_uc003zkr.3_Missense_Mutation_p.I728F|PTPRD_uc003zks.3_Missense_Mutation_p.I723F|PTPRD_uc022bdj.1_Missense_Mutation_p.I730F	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	1144					transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		AAAGGCACAATTATTATGTAG	0.393000										TSP Lung(15;0.13)				74			43		0	0	1	0	0
CBFA2T2	9139	broad.mit.edu	37	20	32232249	32232249	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:32232249C>T	uc002wzg.1	+	11	2149	c.1612C>T	c.(1612-1614)Cgg>Tgg	p.R538W	CBFA2T2_uc010zug.1_Missense_Mutation_p.R312W|CBFA2T2_uc002wze.1_Missense_Mutation_p.R529W|CBFA2T2_uc002wzf.1_Non-coding_Transcript|CBFA2T2_uc002wzh.1_Missense_Mutation_p.R509W|CBFA2T2_uc002wzi.1_Non-coding_Transcript|CBFA2T2_uc002wzj.1_Non-coding_Transcript|CBFA2T2_uc002wzk.1_Missense_Mutation_p.R86W	NM_005093	NP_001034798	O43439	MTG8R_HUMAN	Homo sapiens core-binding factor, runt domain, alpha subunit 2; translocated to, 2 (CBFA2T2), transcript variant 2, mRNA.	538						nucleus	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)	20						GGACTGGGAGCGGCACCACCG	0.652000														38			31		0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	186072761	186072761	+	Silent	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:186072761T>G	uc001grq.1	+	68	10960	c.10731T>G	c.(10729-10731)acT>acG	p.T3577T	MIR548F1_uc021pgf.1_Intron	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	3577	Ig-like C2-type 34.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AAGTGCAAACTCTAGGAGGAG	0.443000														49			7		0	0	1	0	0
ARHGAP20	57569	broad.mit.edu	37	11	110485284	110485284	+	Splice_Site	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:110485284C>T	uc001pkz.1	-	7	915	c.630_splice	c.e7+1	p.Y210_splice	ARHGAP20_uc001pky.1_Splice_Site_p.Y187_splice|ARHGAP20_uc009yyb.1_Splice_Site_p.Y174_splice|ARHGAP20_uc001pla.1_Splice_Site_p.Y174_splice	NM_020809	NP_065860	Q9P2F6	RHG20_HUMAN	Homo sapiens Rho GTPase activating protein 20 (ARHGAP20), mRNA.	210	Ras-associating.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		GAAACACTTACGTAGGCACAA	0.433000														47			31		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140209489	140209489	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140209489G>A	uc003lho.2	+	0	1840	c.1813G>A	c.(1813-1815)Gcg>Acg	p.A605T	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_uc003lhn.2_Intron|PCDHAC2_uc011dab.2_Missense_Mutation_p.A605T	NM_018909	NP_061732	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 6 (PCDHA6), transcript variant 1, mRNA.	618	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.T605T(1)		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)			AGGCTACAACGCGTGGCTTTC	0.652000														31			16		0	0	1	0	0
DACT1	51339	broad.mit.edu	37	14	59112882	59112882	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:59112882G>A	uc001xdw.3	+	3	1705	c.1541G>A	c.(1540-1542)aGc>aAc	p.S514N	DACT1_uc010trv.2_Missense_Mutation_p.S233N|DACT1_uc001xdx.3_Missense_Mutation_p.S477N|DACT1_uc010trw.2_Missense_Mutation_p.S233N	NM_016651	NP_057735	Q9NYF0	DACT1_HUMAN	Homo sapiens dapper, antagonist of beta-catenin, homolog 1 (Xenopus laevis) (DACT1), transcript variant 1, mRNA.	514					Wnt receptor signaling pathway|multicellular organismal development	cytoplasm|nucleus				endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						CAGAAAAACAGCCTGCAGGGC	0.592000														124			10		0	0	1	0	0
NDST1	3340	broad.mit.edu	37	5	149901306	149901306	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:149901306G>A	uc003lsk.4	+	1	992	c.490G>A	c.(490-492)Gtg>Atg	p.V164M	NDST1_uc011dcj.2_Missense_Mutation_p.V164M|NDST1_uc003lsl.3_Missense_Mutation_p.V164M	NM_001543	NP_001534	P52848	NDST1_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1 (NDST1), mRNA.	164	Heparan sulfate N-deacetylase 1.				heparan sulfate proteoglycan biosynthetic process|inflammatory response	Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	34		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGCCTACGGCGTGGGCATCAT	0.542000														120			9		0	0	1	0	0
EIF4ENIF1	56478	broad.mit.edu	37	22	31858998	31858998	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:31858998G>T	uc003akz.2	-	5	905	c.707C>A	c.(706-708)aCt>aAt	p.T236N	EIF4ENIF1_uc003ala.2_Missense_Mutation_p.T236N|EIF4ENIF1_uc003alb.2_Intron	NM_001164501	NP_062817	Q9NRA8	4ET_HUMAN	Homo sapiens eukaryotic translation initiation factor 4E nuclear import factor 1 (EIF4ENIF1), transcript variant 2, mRNA.	236						nucleus	protein binding|protein transporter activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						ATCAAAGCCAGTCAGTTCGAT	0.453000														53			4		2.56e-06	2.88678e-06	1	1	0
SRRT	51593	broad.mit.edu	37	7	100482442	100482442	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100482442G>A	uc003uwy.2	+	7	1291	c.1024G>A	c.(1024-1026)Gag>Aag	p.E342K	SRRT_uc010lhl.1_Missense_Mutation_p.E342K|SRRT_uc003uxa.2_Missense_Mutation_p.E342K|SRRT_uc003uwz.2_Missense_Mutation_p.E342K	NM_015908	NP_056992	Q9BXP5	SRRT_HUMAN	Homo sapiens serrate RNA effector molecule homolog (Arabidopsis) (SRRT), transcript variant 1, mRNA.	342	Glu-rich.				cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						AGAAGACTCCGAGAAGGAAGC	0.517000														88			6		0	0	1	0	0
SMAD1	4086	broad.mit.edu	37	4	146475083	146475083	+	Missense_Mutation	SNP	T	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:146475083T>A	uc003ikc.3	+	5	1561	c.1145T>A	c.(1144-1146)aTt>aAt	p.I382N	SMAD1_uc003ikd.3_Missense_Mutation_p.I382N|SMAD1_uc010iov.3_Missense_Mutation_p.I382N|SMAD1_uc011cic.2_Missense_Mutation_p.I343N	NM_005900	NP_005891	Q15797	SMAD1_HUMAN	Homo sapiens SMAD family member 1 (SMAD1), transcript variant 1, mRNA.	382	MH2.				BMP signaling pathway|SMAD protein complex assembly|embryonic pattern specification|primary miRNA processing|transforming growth factor beta receptor signaling pathway	cytosol|integral to membrane|nuclear inner membrane	I-SMAD binding|co-SMAD binding|identical protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity			endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	17	all_hematologic(180;0.151)					AGTCTGAAAATTTTTAACAAC	0.398000														111			12		0	0	1	0	0
DUSP16	80824	broad.mit.edu	37	12	12630810	12630810	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:12630810G>A	uc001rao.2	-	6	1718	c.955C>T	c.(955-957)Cca>Tca	p.P319S	DUSP16_uc001ran.2_Missense_Mutation_p.P171S	NM_030640	NP_085143	Q9BY84	DUS16_HUMAN	Homo sapiens dual specificity phosphatase 16 (DUSP16), mRNA.	319					MAPK export from nucleus|MAPK phosphatase export from nucleus, leptomycin B sensitive|inactivation of MAPK activity	cytoplasmic membrane-bounded vesicle|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			endometrium(7)|kidney(2)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(3)	26		Prostate(47;0.0687)		BRCA - Breast invasive adenocarcinoma(232;0.0203)		GGTTCATTTGGCTTCTCCAGG	0.542000														58			30		0	0	1	0	0
SFMBT1	51460	broad.mit.edu	37	3	52941704	52941704	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52941704G>T	uc003dgf.3	-	18	2575	c.1952C>A	c.(1951-1953)cCt>cAt	p.P651H	SFMBT1_uc010hmr.3_Missense_Mutation_p.P598H|SFMBT1_uc003dgg.3_Missense_Mutation_p.P651H|SFMBT1_uc003dgh.3_Missense_Mutation_p.P651H	NM_001005159	NP_057413	Q9UHJ3	SMBT1_HUMAN	Homo sapiens Scm-like with four mbt domains 1 (SFMBT1), transcript variant 1, mRNA.	651					regulation of transcription, DNA-dependent	nucleus				breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	24				BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)		ATGCCCACCAGGTGGCCTCCC	0.388000														61			9		1.12685e-05	1.25391e-05	1	1	0
C19orf55	148137	broad.mit.edu	37	19	36259311	36259311	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:36259311C>T	uc021usz.1	+	11	1380	c.1307C>T	c.(1306-1308)gCg>gTg	p.A436V		NM_001039887	NP_001034976	Q2NL68	CS055_HUMAN	Homo sapiens chromosome 19 open reading frame 55 (C19orf55), mRNA.	436										cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)	15	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TCCAGGGAAGCGGATGCCCGA	0.627000														23			12		0	0	1	0	0
MLKL	197259	broad.mit.edu	37	16	74719482	74719482	+	Splice_Site	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:74719482C>A	uc002fdb.2	-	5	1164	c.723_splice	c.e5-1	p.A241_splice	MLKL_uc002fdc.2_Intron	NM_152649	NP_689862	Q8NB16	MLKL_HUMAN	Homo sapiens mixed lineage kinase domain-like (MLKL), transcript variant 1, mRNA.	241	Protein kinase.						ATP binding|protein binding|protein kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(6)|skin(1)|stomach(2)	19						CCTCACTATTCTATAAGGATT	0.418000														26			10		0.000978159	0.00103832	1	1	0
KIAA1161	57462	broad.mit.edu	37	9	34372131	34372131	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:34372131C>T	uc003zue.4	-	2	975	c.808G>A	c.(808-810)Gcc>Acc	p.A270T		NM_020702	NP_065753	Q6NSJ0	K1161_HUMAN	Homo sapiens KIAA1161 (KIAA1161), mRNA.	271					carbohydrate metabolic process	integral to membrane	hydrolase activity, hydrolyzing O-glycosyl compounds			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)		GCGCGGCCGGCGGGTGGCTTG	0.642000														17			3		0	0	1	0	0
FBXO28	23219	broad.mit.edu	37	1	224345333	224345333	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:224345333C>A	uc001hoh.2	+	4	1033	c.992C>A	c.(991-993)gCt>gAt	p.A331D	FBXO28_uc009xef.2_3'UTR|FBXO28_uc010pvc.1_Missense_Mutation_p.A126D	NM_015176	NP_055991	Q9NVF7	FBX28_HUMAN	Homo sapiens F-box protein 28 (FBXO28), transcript variant 1, mRNA.	331										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(2)|skin(1)	10	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.0363)		ATGGAAAGTGCTGTAGGAAAT	0.483000														103			20		2.89027e-11	3.52362e-11	1	1	0
TTN	7273	broad.mit.edu	37	2	179640431	179640431	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179640431C>T	uc021vsy.1	-	27	6385	c.6160G>A	c.(6160-6162)Gcc>Acc	p.A2054T	TTN_uc021vsz.1_Missense_Mutation_p.A2008T|TTN_uc021vta.1_Missense_Mutation_p.A2008T|TTN_uc021vtb.1_Missense_Mutation_p.A2008T|TTN_uc002unb.2_Missense_Mutation_p.A2054T|AK123298_uc002unc.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	2054							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)			CCTTCTTCGGCAAGAGCTTTC	0.413000														90			60		0	0	1	0	0
SKAP1	8631	broad.mit.edu	37	17	46262119	46262119	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:46262119A>C	uc002ini.1	-	6	645	c.533T>G	c.(532-534)tTt>tGt	p.F178C	SKAP1_uc002inj.1_Missense_Mutation_p.F178C|SKAP1_uc010dbd.1_Missense_Mutation_p.F84C|SKAP1_uc010dbe.1_Missense_Mutation_p.F178C	NM_003726	NP_003717	Q86WV1	SKAP1_HUMAN	Homo sapiens src kinase associated phosphoprotein 1 (SKAP1), transcript variant 1, mRNA.	178	PH.				T cell receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus|plasma membrane	SH2 domain binding|antigen binding|protein kinase binding			large_intestine(1)|lung(10)|prostate(2)|skin(4)|urinary_tract(1)	18						GGTCAGTTCAAAGCAGGATTC	0.522000														96			60		0	0	1	0	0
SMEK1	55671	broad.mit.edu	37	14	91937205	91937205	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:91937205A>G	uc001xzn.3	-	9	2458	c.1636T>C	c.(1636-1638)Tcg>Ccg	p.S546P	SMEK1_uc001xzm.3_Missense_Mutation_p.S533P|SMEK1_uc001xzo.3_Missense_Mutation_p.S533P|SMEK1_uc010atz.3_Missense_Mutation_p.S307P|SMEK1_uc001xzp.1_Non-coding_Transcript	NM_032560	NP_115949	Q6IN85	P4R3A_HUMAN	Homo sapiens SMEK homolog 1, suppressor of mek1 (Dictyostelium) (SMEK1), mRNA.	546						microtubule organizing center|nucleus	protein binding			NS(1)|endometrium(1)|kidney(1)|liver(1)|lung(1)|stomach(1)	6		all_cancers(154;0.0691)|all_epithelial(191;0.219)		COAD - Colon adenocarcinoma(157;0.221)		GCATGCTTCGAGGCCATAAGA	0.333000														48			29		0	0	1	0	0
SLAMF9	89886	broad.mit.edu	37	1	159921585	159921585	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:159921585G>A	uc001fus.3	-	3	853	c.736C>T	c.(736-738)Ctc>Ttc	p.L246F	SLAMF9_uc009wtd.3_Missense_Mutation_p.L155F|SLAMF9_uc001fut.3_Silent_p.C109C	NM_033438	NP_254273	Q96A28	SLAF9_HUMAN	Homo sapiens SLAM family member 9 (SLAMF9), transcript variant 1, mRNA.	246						integral to membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			ATTACCAAGAGCAAGAAGATG	0.483000														41			30		0	0	1	0	0
FAM176B	55194	broad.mit.edu	37	1	36788090	36788090	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:36788090C>T	uc001caj.1	-	2	596	c.304G>A	c.(304-306)Gca>Aca	p.A102T	SH3D21_uc010oic.1_Non-coding_Transcript|FAM176B_uc001cai.1_Missense_Mutation_p.A102T	NM_018166	NP_060636	Q9NVM1	F176B_HUMAN	Homo sapiens family with sequence similarity 176, member B (FAM176B), mRNA.	102						integral to membrane				lung(1)|pancreas(1)	2						TCCGGCTCTGCGGACAGCTCG	0.721000														15			5		0	0	1	0	0
ZNF532	55205	broad.mit.edu	37	18	56586416	56586416	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:56586416G>A	uc010xeg.2	+	2	1094	c.897G>A	c.(895-897)ccG>ccA	p.P299P	ZNF532_uc002lhp.3_Silent_p.P297P|ZNF532_uc002lho.3_Silent_p.P299P|ZNF532_uc002lhr.3_Silent_p.P297P|ZNF532_uc002lhs.3_Silent_p.P297P	NM_018181	NP_060651	Q9HCE3	ZN532_HUMAN	Homo sapiens zinc finger protein 532 (ZNF532), mRNA.	299					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						AATCCTCCCCGTTACCAAAAG	0.542000														70			46		0	0	1	0	0
AURKA	6790	broad.mit.edu	37	20	54961320	54961320	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:54961320C>T	uc002xxe.1	-	3	569	c.312G>A	c.(310-312)tcG>tcA	p.S104S	AURKA_uc002xxf.1_Silent_p.S104S|AURKA_uc002xxg.1_Silent_p.S104S|AURKA_uc002xxh.1_Silent_p.S104S|AURKA_uc002xxi.1_Silent_p.S104S|AURKA_uc002xxj.1_Silent_p.S104S|AURKA_uc010zzd.1_Intron|AURKA_uc002xxd.1_Silent_p.S104S	NM_198434	NP_940839	O14965	AURKA_HUMAN	Homo sapiens aurora kinase A (AURKA), transcript variant 3, mRNA.	104			S -> L (in dbSNP:rs2230743).		anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|phosphatidylinositol-mediated signaling|regulation of protein stability|spindle organization	cytosol|nucleus|perinuclear region of cytoplasm|spindle microtubule|spindle pole centrosome	ATP binding|protein kinase binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|lung(9)|ovary(2)|prostate(1)|skin(2)	22			Colorectal(105;0.202)			TACCAGGTGCCGATGGCAGGG	0.463000														89			13		0	0	1	0	0
ABHD2	11057	broad.mit.edu	37	15	89736483	89736483	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:89736483G>A	uc002bnj.2	+	13	1932	c.1014G>A	c.(1012-1014)atG>atA	p.M338I	ABHD2_uc002bnk.2_Missense_Mutation_p.M338I	NM_007011	NP_690888	P08910	ABHD2_HUMAN	Homo sapiens abhydrolase domain containing 2 (ABHD2), transcript variant 1, mRNA.	338						integral to membrane	carboxylesterase activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|soft_tissue(1)	23	Lung NSC(78;0.0472)|all_lung(78;0.089)					TTCCTCTCATGCTGGTTAATG	0.433000														72			7		0	0	1	0	0
IST1	9798	broad.mit.edu	37	16	71956439	71956439	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:71956439G>T	uc002fbj.1	+	8	937	c.654G>T	c.(652-654)aaG>aaT	p.K218N	IST1_uc010cgh.1_Missense_Mutation_p.K218N|IST1_uc002fbk.1_Missense_Mutation_p.K205N|IST1_uc002fbm.1_Missense_Mutation_p.K205N|IST1_uc002fbl.1_Missense_Mutation_p.K205N|IST1_uc010vml.1_Non-coding_Transcript|IST1_uc010vmk.1_Missense_Mutation_p.K57N			P53990	IST1_HUMAN	Homo sapiens increased sodium tolerance 1 homolog (yeast) (IST1), mRNA.	205	Interaction with VPS37B.|Interaction with VTA1.				cell cycle|cell division	ER-Golgi intermediate compartment|cytoplasmic membrane-bounded vesicle	protein binding										ATGATGTGAAGAAAGGAGGCC	0.517000														95			44		3.88204e-17	4.94122e-17	1	1	0
ADH6	130	broad.mit.edu	37	4	100129858	100129858	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:100129858G>T	uc003huo.2	-	5	889	c.795C>A	c.(793-795)ttC>ttA	p.F265L	LOC100507053_uc003hum.2_Intron|ADH6_uc011cef.1_Missense_Mutation_p.F56L|ADH6_uc003hup.4_Missense_Mutation_p.F265L|ADH6_uc010ile.3_Missense_Mutation_p.F265L	NM_001102470	NP_001095940	P28332	ADH6_HUMAN	Homo sapiens alcohol dehydrogenase 6 (class V) (ADH6), transcript variant 1, mRNA.	265					ethanol oxidation|response to ethanol|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|electron carrier activity|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)	20				OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	Abacavir(DB01048)|NADH(DB00157)	CCTCAAAGCAGAAGTCTATAC	0.398000														167			106		1.37401e-58	1.83276e-58	1	1	0
KATNA1	11104	broad.mit.edu	37	6	149922851	149922851	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:149922851G>A	uc003qmr.2	-	5	812	c.767C>T	c.(766-768)aCg>aTg	p.T256M	KATNA1_uc003qms.3_Missense_Mutation_p.T256M|KATNA1_uc003qmt.3_Missense_Mutation_p.T180M|KATNA1_uc011eed.1_Missense_Mutation_p.T180M	NM_007044	NP_008975	O75449	KTNA1_HUMAN	Homo sapiens katanin p60 (ATPase containing) subunit A 1 (KATNA1), transcript variant 1, mRNA.	256					cell division|interphase of mitotic cell cycle|mitosis	microtubule|microtubule organizing center|spindle pole	ATP binding|microtubule binding|microtubule-severing ATPase activity|protein heterodimerization activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	12		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;2.95e-12)|GBM - Glioblastoma multiforme(68;0.173)		AGCAAGGAGCGTCTTCCCCGT	0.438000														34			18		0	0	1	0	0
BEGAIN	57596	broad.mit.edu	37	14	101005175	101005175	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:101005175C>T	uc010txa.2	-	5	1059	c.913G>A	c.(913-915)Gcc>Acc	p.A305T	BEGAIN_uc001yhp.3_Missense_Mutation_p.A241T|BEGAIN_uc001yhq.3_Missense_Mutation_p.A305T	NM_001159531	NP_065887	Q9BUH8	BEGIN_HUMAN	Homo sapiens brain-enriched guanylate kinase-associated homolog (rat) (BEGAIN), transcript variant 1, mRNA.	305						cytoplasm|membrane	protein binding			cervix(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)	14		Melanoma(154;0.212)				TCCGACGTGGCGCTGAAGCTG	0.692000														5			4		0	0	1	0	0
RSRC1	51319	broad.mit.edu	37	3	158261971	158261971	+	Splice_Site	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:158261971G>A	uc003fbt.3	+	10	1024	c.913_splice	c.e10-1	p.L305_splice	RSRC1_uc003fbv.3_Splice_Site_p.L247_splice	NM_016625	NP_057709	Q96IZ7	RSRC1_HUMAN	Homo sapiens arginine/serine-rich coiled-coil 1 (RSRC1), mRNA.	305					nucleocytoplasmic transport	cytoplasm|nuclear speck	protein binding			cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1)	18			Lung(72;0.00416)|LUSC - Lung squamous cell carcinoma(72;0.00575)			TCTTATTTCAGTTATTTATCG	0.343000														39			24		0	0	1	0	0
C15orf27	123591	broad.mit.edu	37	15	76462158	76462158	+	Splice_Site	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:76462158C>T	uc002bbq.3	+	6	612	c.457_splice	c.e6-1	p.T153_splice	C15orf27_uc010bkp.3_Splice_Site|C15orf27_uc002bbr.3_Splice_Site	NM_152335	NP_689548	Q2M3C6	CO027_HUMAN	Homo sapiens chromosome 15 open reading frame 27 (C15orf27), mRNA.	153						integral to membrane				endometrium(1)|large_intestine(1)|lung(10)|pancreas(1)	13						TTTCCTCAGACTGTTCTACGG	0.493000														253			12		0	0	1	0	0
GIMAP4	55303	broad.mit.edu	37	7	150269743	150269743	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:150269743C>T	uc003whl.3	+	2	667	c.585C>T	c.(583-585)ggC>ggT	p.G195G	GIMAP4_uc011kuu.2_Silent_p.G56G|GIMAP4_uc011kuv.2_Silent_p.G209G	NM_018326	NP_060796	Q9NUV9	GIMA4_HUMAN	Homo sapiens GTPase, IMAP family member 4 (GIMAP4), mRNA.	195							GTP binding			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGGCAACAGGCGCTGAGCAGG	0.522000														99			35		0	0	1	0	0
DMXL2	23312	broad.mit.edu	37	15	51772245	51772245	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:51772245A>G	uc010ufy.2	-	24	6881	c.6656T>C	c.(6655-6657)aTa>aCa	p.I2219T	DMXL2_uc002abd.3_Missense_Mutation_p.I289T|DMXL2_uc002abf.3_Missense_Mutation_p.I2219T|DMXL2_uc010bfa.3_Missense_Mutation_p.I1583T	NM_001174116	NP_001167587	Q8TDJ6	DMXL2_HUMAN	Homo sapiens Dmx-like 2 (DMXL2), transcript variant 1, mRNA.	2219						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		AGGATTAGCTATGACTGTTTT	0.408000														98			20		0	0	1	0	0
PTX4	390667	broad.mit.edu	37	16	1537618	1537618	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:1537618G>A	uc010uvf.2	-	1	480	c.480C>T	c.(478-480)ggC>ggT	p.G160G		NM_001013658	NP_001013680	Q96A99	PTX4_HUMAN	Homo sapiens pentraxin 4, long (PTX4), mRNA.	165						extracellular region	metal ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						CCAGCCTGGCGCCCTGGCTGT	0.736000														18			6		0	0	1	0	0
USP44	84101	broad.mit.edu	37	12	95918498	95918498	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:95918498C>T	uc001teg.3	-	3	1835	c.1691G>A	c.(1690-1692)tGc>tAc	p.C564Y	USP44_uc001teh.3_Missense_Mutation_p.C564Y|USP44_uc009zte.3_Missense_Mutation_p.C561Y	NM_001042403	NP_115523	Q9H0E7	UBP44_HUMAN	Homo sapiens ubiquitin specific peptidase 44 (USP44), transcript variant 2, mRNA.	564					anaphase|cell division|mitosis|negative regulation of mitotic anaphase-promoting complex activity|protein deubiquitination|regulation of spindle checkpoint|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(5)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	36						AGGTAGGTGGCATATCATAAG	0.393000														52			23		0	0	1	0	0
RNF150	57484	broad.mit.edu	37	4	141832381	141832381	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:141832381G>T	uc003iio.1	-	5	1769	c.1115C>A	c.(1114-1116)gCt>gAt	p.A372D	RNF150_uc010iok.1_Missense_Mutation_p.A330D|RNF150_uc003iip.1_Missense_Mutation_p.A372D	NM_020724	NP_065775	Q9ULK6	RN150_HUMAN	Homo sapiens ring finger protein 150 (RNF150), mRNA.	372						integral to membrane	zinc ion binding			breast(1)|large_intestine(10)|lung(7)|ovary(1)	19	all_hematologic(180;0.162)					AGTCCGGACAGCAGGGTCCAA	0.557000														37			28		2.65835e-16	3.3677e-16	1	1	0
THRAP3	9967	broad.mit.edu	37	1	36762305	36762305	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:36762305C>T	uc001cae.4	+	8	2461	c.2237C>T	c.(2236-2238)tCc>tTc	p.S746F	THRAP3_uc001caf.4_Missense_Mutation_p.S746F	NM_005119	NP_005110	Q9Y2W1	TR150_HUMAN	Homo sapiens thyroid hormone receptor associated protein 3 (THRAP3), mRNA.	746					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TCCCGAGACTCCAGTCACTCA	0.428000			T	USP6	aneurysmal bone cysts									48			21		0	0	1	0	0
GCM2	9247	broad.mit.edu	37	6	10874354	10874354	+	Silent	SNP	G	A	A	rs139538731	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:10874354G>A	uc003mzn.4	-	4	1467	c.1395C>T	c.(1393-1395)caC>caT	p.H465H	SYCP2L_uc011dim.1_Intron	NM_004752	NP_004743	O75603	GCM2_HUMAN	Homo sapiens glial cells missing homolog 2 (Drosophila) (GCM2), mRNA.	465					cellular calcium ion homeostasis|cellular phosphate ion homeostasis|parathyroid gland development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	30	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)				AAACTGGCTCGTGGGGAATAG	0.572000														18			9		0	0	1	0	0
C17orf53	78995	broad.mit.edu	37	17	42226360	42226360	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:42226360C>T	uc002ifi.2	+	2	1426	c.1189C>T	c.(1189-1191)Cgt>Tgt	p.R397C	C17orf53_uc010czq.2_Missense_Mutation_p.R397C|C17orf53_uc002ifj.2_Missense_Mutation_p.R397C|C17orf53_uc002ifk.1_Non-coding_Transcript	NM_024032	NP_076937	Q8N3J3	CQ053_HUMAN	Homo sapiens chromosome 17 open reading frame 53 (C17orf53), transcript variant 1, mRNA.	397										NS(1)|breast(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	22		Breast(137;0.0364)|Prostate(33;0.0376)		BRCA - Breast invasive adenocarcinoma(366;0.114)		CAAAACTCGCCGTTTCCCTGG	0.617000														36			18		0	0	1	0	0
TRPM7	54822	broad.mit.edu	37	15	50897065	50897065	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:50897065T>G	uc001zyt.4	-	20	3268	c.2986A>C	c.(2986-2988)Atg>Ctg	p.M996L	TRPM7_uc010bew.2_Missense_Mutation_p.M996L|TRPM7_uc001zyu.3_Missense_Mutation_p.M554L	NM_017672	NP_060142	Q96QT4	TRPM7_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 7 (TRPM7), mRNA.	996					cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		CAACTTACCATTTTTCCAATC	0.289000														27			5		0	0	1	0	0
XPNPEP1	7511	broad.mit.edu	37	10	111637817	111637817	+	Splice_Site	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:111637817C>A	uc001kyp.2	-	13	1303	c.1183_splice	c.e13-1	p.V395_splice	XPNPEP1_uc009xxt.2_Splice_Site_p.V395_splice|XPNPEP1_uc001kyq.2_Splice_Site_p.V281_splice|XPNPEP1_uc010qrb.2_Splice_Site_p.V395_splice|XPNPEP1_uc010qra.1_Splice_Site_p.V119_splice	NM_020383	NP_065116	Q9NQW7	XPP1_HUMAN	Homo sapiens X-prolyl aminopeptidase (aminopeptidase P) 1, soluble (XPNPEP1), transcript variant 1, mRNA.	352					bradykinin catabolic process|proteolysis		manganese ion binding|metalloaminopeptidase activity|protein homodimerization activity			endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1)	31		Breast(234;0.174)		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)		CTTTGGGAACCTATGAGAAAA	0.443000														35			20		3.10358e-05	3.42428e-05	1	1	0
GRIN2A	2903	broad.mit.edu	37	16	9857312	9857312	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:9857312G>A	uc010uym.2	-	13	4399	c.4089C>T	c.(4087-4089)tcC>tcT	p.S1363S	GRIN2A_uc002czo.4_Silent_p.S1363S|GRIN2A_uc010uyn.2_Intron|GRIN2A_uc002czr.4_Intron	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	1363					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.S1363S(2)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	AAGGGTTATCGGAGGTGTGGT	0.557000														38			24		0	0	1	0	0
GCAT	23464	broad.mit.edu	37	22	38211691	38211691	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:38211691G>A	uc003aua.2	+	6	977	c.914G>A	c.(913-915)gGg>gAg	p.G305E	GCAT_uc003atz.3_Missense_Mutation_p.G279E	NM_001171690	NP_001165161	O75600	KBL_HUMAN	Homo sapiens glycine C-acetyltransferase (GCAT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	279					biosynthetic process|cellular amino acid metabolic process		glycine C-acetyltransferase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	12	Melanoma(58;0.045)				Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	ACAGGGCCTGGGCCCCTGGTG	0.657000														76			33		0	0	1	0	0
PNISR	25957	broad.mit.edu	37	6	99850491	99850491	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:99850491G>A	uc003ppo.4	-	10	1480	c.1252C>T	c.(1252-1254)Cga>Tga	p.R418*	PNISR_uc021zdc.1_5'Flank|PNISR_uc021zdd.1_5'Flank|PNISR_uc003ppp.4_Nonsense_Mutation_p.R418*|PNISR_uc011eag.2_Nonsense_Mutation_p.R418*	NM_032870	NP_116259	Q8TF01	PNISR_HUMAN	Homo sapiens PNN-interacting serine/arginine-rich protein (PNISR), transcript variant 1, mRNA.	418						nuclear speck				breast(2)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						TGCCGGATTCGATGCCGTAAT	0.418000														108			48		0	0	1	0	0
EXD1	161829	broad.mit.edu	37	15	41488137	41488137	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:41488137A>C	uc010ucv.2	-	7	905	c.633T>G	c.(631-633)atT>atG	p.I211M	EXD1_uc001znk.3_Missense_Mutation_p.I153M	NM_152596	NP_689809	Q8NHP7	EXD1_HUMAN	Homo sapiens exonuclease 3'-5' domain containing 1 (EXD1), mRNA.	153					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			large_intestine(5)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(2)	16						TTACCTTCAAAATTCTCTTGT	0.388000														39			18		0	0	1	0	0
CCNL2	81669	broad.mit.edu	37	1	1323366	1323366	+	Silent	SNP	G	T	T	rs148355846		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:1323366G>T	uc001afi.2	-	8	1118	c.1086C>A	c.(1084-1086)gcC>gcA	p.A362A	CCNL2_uc010nym.1_Non-coding_Transcript|CCNL2_uc001aff.1_Silent_p.A140A|CCNL2_uc001afg.1_Silent_p.A140A|CCNL2_uc001afj.2_Silent_p.A140A	NM_030937	NP_112199	Q96S94	CCNL2_HUMAN	Homo sapiens cyclin L2 (CCNL2), transcript variant 1, mRNA.	362					RNA processing|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	protein kinase binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)		TGGCTTTCTTGGCGCCCTCCA	0.577000														90			11		2.80697e-09	3.3309e-09	1	1	0
CCDC76	54482	broad.mit.edu	37	1	100614354	100614354	+	Nonsense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:100614354C>A	uc001dsv.3	+	10	1443	c.1424C>A	c.(1423-1425)tCa>tAa	p.S475*	CCDC76_uc010ouf.2_Non-coding_Transcript|CCDC76_uc009wea.3_3'UTR	NM_019083	NP_061956	Q9NUP7	TRM13_HUMAN	Homo sapiens coiled-coil domain containing 76 (CCDC76), mRNA.	475					tRNA processing		metal ion binding|methyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)	21		all_epithelial(167;0.000542)|all_lung(203;0.0154)|Lung NSC(277;0.0155)		Epithelial(280;0.0814)|all cancers(265;0.133)|COAD - Colon adenocarcinoma(174;0.146)|Lung(183;0.194)		AATCATTCTTCATCACCAGAA	0.313000														49			11		9.31168e-06	1.03939e-05	1	1	0
FAM159A	348378	broad.mit.edu	37	1	53122674	53122674	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:53122674T>C	uc001cuf.3	+	2	635	c.535T>C	c.(535-537)Tct>Cct	p.S179P	FAM159A_uc001cug.1_Intron|FAM159A_uc001cuh.3_Intron	NM_001042693	NP_001036158	Q6UWV7	F159A_HUMAN	Homo sapiens family with sequence similarity 159, member A (FAM159A), mRNA.	179						integral to membrane				endometrium(3)|lung(6)|upper_aerodigestive_tract(1)	10						TGAGGAAGCCTCTGTACCCAA	0.527000														279			20		0	0	1	0	0
PKD1L2	114780	broad.mit.edu	37	16	81232492	81232492	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:81232492T>C	uc002fgh.1	-	6	1318	c.1318A>G	c.(1318-1320)Aga>Gga	p.R440G	PKD1L2_uc002fgj.3_Missense_Mutation_p.R440G	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	Homo sapiens polycystic kidney disease 1-like 2 (PKD1L2), transcript variant 1, mRNA.	440	REJ.				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GTAATGTTTCTGGAGATTGTA	0.557000														145			25		0	0	1	0	0
BCKDHA	593	broad.mit.edu	37	19	41925141	41925141	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:41925141G>A	uc002oqq.3	+	4	625	c.586G>A	c.(586-588)Ggc>Agc	p.G196S	BCKDHA_uc002oqm.4_Missense_Mutation_p.G230S|BCKDHA_uc002oqp.2_Missense_Mutation_p.G88S|BCKDHA_uc002oqr.3_Missense_Mutation_p.G196S|BCKDHA_uc010xvz.2_Missense_Mutation_p.G174S	NM_000709	NP_000700	P12694	ODBA_HUMAN	Homo sapiens branched chain keto acid dehydrogenase E1, alpha polypeptide (BCKDHA), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	196					branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|alpha-ketoacid dehydrogenase activity|carboxy-lyase activity|metal ion binding|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	10						TGTCCACTACGGCTGCAAGGA	0.572000														22			11		0	0	1	0	0
CCNY	219771	broad.mit.edu	37	10	35819081	35819081	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:35819081A>G	uc001iyw.4	+	6	669	c.489A>G	c.(487-489)aaA>aaG	p.K163K	CCNY_uc001iyu.4_Silent_p.K109K|CCNY_uc001iyv.4_Silent_p.K109K|CCNY_uc001iyx.4_Silent_p.K109K|CCNY_uc009xmb.3_Silent_p.K138K|CCNY_uc010qet.2_Silent_p.K30K	NM_145012	NP_859049	Q8ND76	CCNY_HUMAN	Homo sapiens cyclin Y (CCNY), transcript variant 1, mRNA.	163	Cyclin N-terminal.				G2/M transition of mitotic cell cycle|Wnt receptor signaling pathway|cell division|positive regulation of cyclin-dependent protein kinase activity|regulation of canonical Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	cyclin-dependent protein kinase regulator activity|protein kinase binding			cervix(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	8						ATTATGACAAACACAACCCAG	0.468000														44			28		0	0	1	0	0
REC8	9985	broad.mit.edu	37	14	24649226	24649226	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:24649226G>A	uc001wmr.3	+	19	1993	c.1566G>A	c.(1564-1566)gcG>gcA	p.A522A	REC8_uc001wms.3_Silent_p.A522A	NM_005132	NP_005123	O95072	REC8_HUMAN	Homo sapiens REC8 homolog (yeast) (REC8), transcript variant 1, mRNA.	523					mitotic metaphase/anaphase transition|mitotic prometaphase|reciprocal meiotic recombination|sister chromatid cohesion	nucleoplasm				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(265;0.00839)		TGCTCTCAGCGCAACAGATTC	0.567000														80			32		0	0	1	0	0
ARHGEF15	22899	broad.mit.edu	37	17	8218780	8218780	+	Missense_Mutation	SNP	C	T	T	rs139047802		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:8218780C>T	uc002glc.3	+	6	1464	c.1309C>T	c.(1309-1311)Cgg>Tgg	p.R437W	ARHGEF15_uc002gld.3_Missense_Mutation_p.R437W|ARHGEF15_uc010vuw.2_Missense_Mutation_p.R326W	NM_173728	NP_776089	O94989	ARHGF_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 15 (ARHGEF15), transcript variant 1, mRNA.	437	DH.				negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						GCGCTCCCTGCGGCTGCTGAC	0.607000														126			8		0	0	1	0	0
NHLH2	4808	broad.mit.edu	37	1	116380610	116380610	+	Nonsense_Mutation	SNP	A	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:116380610A>T	uc021osf.1	-	0	384	c.384T>A	c.(382-384)taT>taA	p.Y128*	NHLH2_uc009wgz.3_Nonsense_Mutation_p.Y128*|NHLH2_uc001efy.3_Nonsense_Mutation_p.Y128*	NM_005599	NP_005590	Q02577	HEN2_HUMAN	Homo sapiens nescient helix loop helix 2 (NHLH2), transcript variant 1, mRNA.	128	Helix-loop-helix motif.				cell differentiation|central nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			prostate(1)	1	Lung SC(450;0.184)	all_cancers(81;1.75e-06)|all_epithelial(167;1.16e-06)|all_lung(203;9.55e-06)|Lung NSC(69;5.83e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		CGTGGTTGAGATAGGAGATGT	0.682000														14			4		0	0	1	0	0
GORASP2	26003	broad.mit.edu	37	2	171822309	171822309	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:171822309C>A	uc002ugk.3	+	9	1843	c.1028C>A	c.(1027-1029)cCt>cAt	p.P343H	GORASP2_uc002ugj.3_Missense_Mutation_p.P275H|GORASP2_uc010zdl.2_Missense_Mutation_p.P355H|GORASP2_uc010zdm.2_Missense_Mutation_p.P299H|GORASP2_uc002ugl.3_Missense_Mutation_p.P275H|GORASP2_uc002ugm.3_Missense_Mutation_p.P125H	NM_015530	NP_056345	Q9H8Y8	GORS2_HUMAN	Homo sapiens golgi reassembly stacking protein 2, 55kDa (GORASP2), transcript variant 1, mRNA.	343	Pro-rich.					Golgi membrane				breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	14						GGTCTGCCACCTCTTCCTTCC	0.498000														48			4		5.9392e-07	6.7814e-07	1	1	0
BAZ1B	9031	broad.mit.edu	37	7	72892056	72892056	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:72892056G>A	uc003tyc.3	-	6	2087	c.1735C>T	c.(1735-1737)Cgg>Tgg	p.R579W		NM_032408	NP_115784	Q9UIG0	BAZ1B_HUMAN	Homo sapiens bromodomain adjacent to zinc finger domain, 1B (BAZ1B), mRNA.	579					ATP-dependent chromatin remodeling|DNA replication-dependent nucleosome disassembly|chromatin-mediated maintenance of transcription|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding	p.K578K(1)		NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				TCCTCATACCGCTTCTGTTTT	0.438000														152			177		0	0	1	0	0
SARS2	54938	broad.mit.edu	37	19	39433383	39433383	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:39433383G>A	uc010xuq.1	-	4	415	c.207C>T	c.(205-207)caC>caT	p.H69H	SARS2_uc002okg.1_Silent_p.H234H|SARS2_uc002okf.1_Silent_p.H243H	NM_017827	NP_060297	Q9NP81	SYSM_HUMAN	Homo sapiens seryl-tRNA synthetase 2, mitochondrial (SARS2), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	0					seryl-tRNA aminoacylation	mitochondrial matrix	ATP binding|protein binding|serine-tRNA ligase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(60;2.74e-06)|all_epithelial(25;4.36e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			TGGTGAAGACGTGGGAGACCT	0.602000														43			5		0	0	1	0	0
CDC37	11140	broad.mit.edu	37	19	10503785	10503785	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10503785C>T	uc002mof.1	-	6	1074	c.958G>A	c.(958-960)Gcc>Acc	p.A320T		NM_007065	NP_008996	Q16543	CDC37_HUMAN	Homo sapiens cell division cycle 37 homolog (S. cerevisiae) (CDC37), mRNA.	320					protein targeting|regulation of cyclin-dependent protein kinase activity|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway		unfolded protein binding	p.A320T(2)		breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	16			OV - Ovarian serous cystadenocarcinoma(20;4.65e-10)|Epithelial(33;6.48e-07)|all cancers(31;2.31e-06)	GBM - Glioblastoma multiforme(1328;0.0318)		TTGCTGATGGCGTCCTGCAGC	0.662000														44			4		0	0	1	0	0
FBN3	84467	broad.mit.edu	37	19	8174224	8174224	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:8174224C>T	uc002mjf.3	-	34	4522	c.4505G>A	c.(4504-4506)aGt>aAt	p.S1502N		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	1502	TB 6.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GGAAATGCCACTGTCCCCTCG	0.597000														45			25		0	0	1	0	0
RPL10	6134	broad.mit.edu	37	X	153627702	153627702	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153627702C>T	uc004fkm.2	+	2	235	c.47C>T	c.(46-48)cCg>cTg	p.P16L	AK307233_uc010nuv.2_5'Flank|RPL10_uc004fko.2_Missense_Mutation_p.P16L|RPL10_uc004fkn.1_Missense_Mutation_p.P16L|RPL10_uc004fkq.1_Non-coding_Transcript|RPL10_uc004fkr.1_5'Flank|SNORA70_uc010nux.1_5'Flank|RPL10_uc022cif.1_5'Flank	NM_006013	NP_006004	P27635	RL10_HUMAN	Homo sapiens ribosomal protein L10 (RPL10), transcript variant 1, mRNA.	16					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|endoplasmic reticulum	structural constituent of ribosome			large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AAGAACAAGCCGTACCCAAAG	0.552000											OREG0019957	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		62			49		0	0	1	0	0
MIER2	54531	broad.mit.edu	37	19	327978	327978	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:327978C>T	uc002lok.1	-	3	264	c.255G>A	c.(253-255)atG>atA	p.M85I		NM_017550	NP_060020	Q8N344	MIER2_HUMAN	Homo sapiens mesoderm induction early response 1, family member 2 (MIER2), mRNA.	85					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.D84N(1)		endometrium(4)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CATCAAAGGGCATGTCGTTGC	0.617000														14			4		0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152328811	152328811	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:152328811G>T	uc001ezw.4	-	2	1524	c.1451C>A	c.(1450-1452)tCt>tAt	p.S484Y	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	484	Ser-rich.						calcium ion binding|structural molecule activity	p.G483V(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACCTGAGCCAGACCCATGTTG	0.527000														123			104		2.91292e-72	3.88789e-72	1	1	0
ESR2	2100	broad.mit.edu	37	14	64700034	64700034	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:64700034C>T	uc001xha.1	-	8	1882	c.1414G>A	c.(1414-1416)Ggc>Agc	p.G472S	ESR2_uc001xgy.2_Intron|ESR2_uc001xgu.3_Intron|ESR2_uc001xgv.3_Intron|ESR2_uc001xgw.3_Intron|ESR2_uc001xgx.3_Intron|ESR2_uc010aqb.1_Non-coding_Transcript|ESR2_uc010aqc.1_Missense_Mutation_p.G381S	NM_001437	NP_001428	Q92731	ESR2_HUMAN	Homo sapiens estrogen receptor 2 (ER beta) (ESR2), transcript variant a, mRNA.	472	Steroid-binding.				cell-cell signaling|negative regulation of cell growth|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	mitochondrion|nucleoplasm	enzyme binding|estrogen receptor activity|receptor antagonist activity|sequence-specific DNA binding transcription factor activity|steroid binding|transcription coactivator activity|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	23				all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	Bicalutamide(DB01128)|Estradiol(DB00783)|Estramustine(DB01196)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)	TGTTCCATGCCCTTGTTACTA	0.552000														94			5		0	0	1	0	0
COX7B2	170712	broad.mit.edu	37	4	46737055	46737055	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:46737055G>A	uc003gxf.3	-	2	335	c.155C>T	c.(154-156)gCt>gTt	p.A52V	COX7B2_uc010ige.3_Non-coding_Transcript|COX7B2_uc021xny.1_Missense_Mutation_p.A52V	NM_130902	NP_570972	Q8TF08	CX7B2_HUMAN	Homo sapiens cytochrome c oxidase subunit VIIb2 (COX7B2), mRNA.	52						integral to membrane|mitochondrial respiratory chain	cytochrome-c oxidase activity			large_intestine(1)|lung(4)	5						CACCCATGTAGCAACACAGAA	0.438000														57			36		0	0	1	0	0
CTAGE5	4253	broad.mit.edu	37	14	39771384	39771384	+	Nonsense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:39771384G>T	uc001wvi.4	+	9	1198	c.862G>T	c.(862-864)Gaa>Taa	p.E288*	CTAGE5_uc010tqe.1_Nonsense_Mutation_p.E245*|CTAGE5_uc001wuy.4_Nonsense_Mutation_p.E203*|CTAGE5_uc001wuz.4_Nonsense_Mutation_p.E271*|CTAGE5_uc001wva.4_Nonsense_Mutation_p.E254*|CTAGE5_uc001wvb.4_Nonsense_Mutation_p.E254*|CTAGE5_uc001wvc.4_Nonsense_Mutation_p.E228*|CTAGE5_uc001wve.1_Nonsense_Mutation_p.E259*|CTAGE5_uc001wvf.4_Nonsense_Mutation_p.E208*|CTAGE5_uc001wvg.4_Nonsense_Mutation_p.E283*|CTAGE5_uc001wvh.4_Nonsense_Mutation_p.E283*|CTAGE5_uc010amz.3_5'UTR|CTAGE5_uc001wvj.4_Nonsense_Mutation_p.E254*	NM_001247989	NP_001234918	O15320	CTGE5_HUMAN	Homo sapiens CTAGE family, member 5 (CTAGE5), transcript variant 6, mRNA.	283							enzyme activator activity|protein binding		CTAGE5/SIP1(2)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0475)		TATGCTTGGAGAAGACATAAC	0.383000														139			10		2.17888e-05	2.40634e-05	1	1	0
SLC22A15	55356	broad.mit.edu	37	1	116569603	116569603	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:116569603C>A	uc001egb.4	+	4	818	c.688C>A	c.(688-690)Ctg>Atg	p.L230M	SLC22A15_uc001ega.2_Missense_Mutation_p.L230M	NM_018420	NP_060890	Q8IZD6	S22AF_HUMAN	Homo sapiens solute carrier family 22, member 15 (SLC22A15), mRNA.	230					ion transport	integral to membrane	transmembrane transporter activity	p.I229V(1)		endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|urinary_tract(1)	17	Lung SC(450;0.184)	all_cancers(81;3.17e-06)|all_epithelial(167;2.32e-06)|all_lung(203;9.81e-06)|Lung NSC(69;5.94e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		CCTAGCCATTCTGGTTAACCT	0.443000														101			8		3.09899e-07	3.55757e-07	1	1	0
PAN2	9924	broad.mit.edu	37	12	56720656	56720656	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56720656A>G	uc001skx.3	-	6	1384	c.1007T>C	c.(1006-1008)tTt>tCt	p.F336S	PAN2_uc001skw.3_5'Flank|PAN2_uc001sky.3_Missense_Mutation_p.F336S|PAN2_uc001skz.3_Missense_Mutation_p.F336S	NM_001127460	NP_001120932	Q504Q3	PAN2_HUMAN	Homo sapiens PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae) (PAN2), transcript variant 1, mRNA.	336					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						TGACACATCAAATGTCATTAG	0.557000														57			25		0	0	1	0	0
PCDHB1	29930	broad.mit.edu	37	5	140432410	140432410	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140432410T>C	uc003lik.1	+	0	1432	c.1355T>C	c.(1354-1356)tTt>tCt	p.F452S		NM_013340	NP_037472	Q9Y5F3	PCDB1_HUMAN	Homo sapiens protocadherin beta 1 (PCDHB1), mRNA.	452	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTCCAATATTTCGGGAAGAT	0.433000														88			5		0	0	1	0	0
RRAGB	10325	broad.mit.edu	37	X	55757807	55757807	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:55757807T>G	uc004dup.3	+	5	1039	c.388T>G	c.(388-390)Ttc>Gtc	p.F130V	RRAGB_uc004duq.3_Missense_Mutation_p.F102V	NM_016656	NP_057740	Q5VZM2	RRAGB_HUMAN	Homo sapiens Ras-related GTP binding B (RRAGB), transcript variant RAGBl, mRNA.	130					cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade|signal transduction	Golgi apparatus|lysosome|nucleus	GTP binding|protein binding			breast(1)|endometrium(3)|large_intestine(5)|lung(3)|pancreas(1)|prostate(1)	14						GCAAGACACCTTCATGGAAAA	0.373000														25			5		0	0	1	0	0
CDON	50937	broad.mit.edu	37	11	125873880	125873880	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:125873880G>T	uc009zbw.3	-	9	2071	c.1943C>A	c.(1942-1944)tCt>tAt	p.S648Y	CDON_uc001qdb.4_Missense_Mutation_p.S25Y|CDON_uc001qdc.4_Missense_Mutation_p.S648Y	NM_001243597	NP_001230526	Q4KMG0	CDON_HUMAN	Homo sapiens Cdon homolog (mouse) (CDON), transcript variant 1, mRNA.	648	Fibronectin type-III 1.				cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		ATAAAGACTAGATGGCTCCAG	0.537000														46			5		2.7689e-08	3.24273e-08	1	1	0
ASNS	440	broad.mit.edu	37	7	97498288	97498288	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:97498288G>A	uc003uot.4	-	2	687	c.181C>T	c.(181-183)Cca>Tca	p.P61S	ASNS_uc011kin.2_Intron|ASNS_uc011kio.2_Missense_Mutation_p.P40S|ASNS_uc003uou.4_Missense_Mutation_p.P61S|ASNS_uc003uov.4_Missense_Mutation_p.P61S|ASNS_uc003uox.4_Intron	NM_133436	NP_001171548	P08243	ASNS_HUMAN	Homo sapiens asparagine synthetase (glutamine-hydrolyzing) (ASNS), transcript variant 1, mRNA.	61	Glutamine amidotransferase type-2.				cellular response to glucose starvation|glutamine metabolic process|negative regulation of apoptosis|positive regulation of mitotic cell cycle	cytosol|soluble fraction	ATP binding|asparagine synthase (glutamine-hydrolyzing) activity			ovary(1)	1	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)				Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	ACTCGAATTGGCTGCATTCCA	0.453000														83			28		0	0	1	0	0
MED13L	23389	broad.mit.edu	37	12	116675279	116675279	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:116675279G>A	uc001tvw.3	-	1	359	c.304C>T	c.(304-306)Ctg>Ttg	p.L102L		NM_015335	NP_056150	Q71F56	MD13L_HUMAN	Homo sapiens mediator complex subunit 13-like (MED13L), mRNA.	102					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		TTACCCTGCAGTTCATGATGT	0.343000														36			29		0	0	1	0	0
ZNF211	10520	broad.mit.edu	37	19	58152302	58152302	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58152302C>A	uc002qpr.2	+	5	943	c.640C>A	c.(640-642)Ctt>Att	p.L214I	ZNF211_uc010yhb.1_Missense_Mutation_p.L154I|ZNF211_uc002qpp.2_Missense_Mutation_p.L163I|ZNF211_uc002qpq.2_Missense_Mutation_p.L150I|ZNF211_uc002qpt.2_Missense_Mutation_p.L162I|ZNF211_uc010yhc.1_Missense_Mutation_p.L162I|ZNF211_uc010yhe.1_Missense_Mutation_p.L141I|ZNF211_uc010yhd.1_Missense_Mutation_p.L89I	NM_006385	NP_006376	Q13398	ZN211_HUMAN	Homo sapiens zinc finger protein 211 (ZNF211), transcript variant 1, mRNA.	150						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CAGTGCAAATCTTCAACAGCA	0.458000														53			5		0.248553	0.249802	1	1	0
DECR2	26063	broad.mit.edu	37	16	455024	455024	+	Splice_Site	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:455024G>A	uc002chb.3	+	2	255	c.149_splice	c.e2+1	p.R50_splice	DECR2_uc021szq.1_Splice_Site_p.R50_splice|DECR2_uc002chc.3_Splice_Site|DECR2_uc002chd.3_Splice_Site|DECR2_uc002che.1_5'Flank	NM_020664	NP_065715	Q9NUI1	DECR2_HUMAN	Homo sapiens 2,4-dienoyl CoA reductase 2, peroxisomal (DECR2), mRNA.	50						peroxisome	2,4-dienoyl-CoA reductase (NADPH) activity|binding			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)	9		Hepatocellular(16;0.00015)				ATTTTCATGCGGTGAGACTGC	0.552000														75			36		0	0	1	0	0
ZDHHC7	55625	broad.mit.edu	37	16	85010773	85010773	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:85010773C>A	uc010voi.1	-	7	1142	c.789G>T	c.(787-789)gaG>gaT	p.E263D	ZDHHC7_uc002fiq.2_Missense_Mutation_p.E226D|ZDHHC7_uc002fir.1_Non-coding_Transcript	NM_001145548	NP_001139020	Q9NXF8	ZDHC7_HUMAN	Homo sapiens zinc finger, DHHC-type containing 7 (ZDHHC7), transcript variant 1, mRNA.	226						integral to membrane	acyltransferase activity|protein binding|zinc ion binding			large_intestine(6)|lung(4)	10						ACAGAAGACCCTCAAGGCACA	0.458000														79			18		1.02788e-11	1.25893e-11	1	1	0
ESCO2	157570	broad.mit.edu	37	8	27657152	27657152	+	Missense_Mutation	SNP	C	T	T	rs144956719		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:27657152C>T	uc003xgg.3	+	9	1675	c.1592C>T	c.(1591-1593)gCa>gTa	p.A531V	ESCO2_uc010luy.1_Non-coding_Transcript	NM_001017420	NP_001017420	Q56NI9	ESCO2_HUMAN	Homo sapiens establishment of cohesion 1 homolog 2 (S. cerevisiae) (ESCO2), mRNA.	531					cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|KIRC - Kidney renal clear cell carcinoma(542;0.0955)|Kidney(114;0.115)|Colorectal(74;0.132)		CCAGAACCTGCAGTCTGTGGG	0.463000									SC Phocomelia syndrome					88			50		0	0	1	0	0
PHIP	55023	broad.mit.edu	37	6	79650991	79650991	+	Nonsense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:79650991C>A	uc011dyp.2	-	39	5108	c.4882G>T	c.(4882-4884)Gga>Tga	p.G1628*	PHIP_uc003piq.3_Nonsense_Mutation_p.G653*|PHIP_uc003pir.3_Nonsense_Mutation_p.G1629*|IRAK1BP1_uc010kbg.1_Intron|PHIP_uc003pio.4_Nonsense_Mutation_p.G515*	NM_017934	NP_060404	Q8WWQ0	PHIP_HUMAN	Homo sapiens pleckstrin homology domain interacting protein (PHIP), mRNA.	1629					insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		GATGGCTGTCCTCCATGGCCA	0.383000														116			21		1.9806e-07	2.28575e-07	1	1	0
PAK1IP1	55003	broad.mit.edu	37	6	10697569	10697569	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:10697569G>A	uc003mzg.3	+	1	128	c.97G>A	c.(97-99)Gtg>Atg	p.V33M	C6orf52_uc011dij.2_5'Flank|C6orf52_uc011dik.2_5'Flank|C6orf52_uc003mzf.4_5'Flank|C6orf52_uc011dil.2_5'Flank	NM_017906	NP_060376	Q9NWT1	PK1IP_HUMAN	Homo sapiens PAK1 interacting protein 1 (PAK1IP1), mRNA.	33					negative regulation of signal transduction	nucleolus|plasma membrane				kidney(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12	Ovarian(93;0.107)|Breast(50;0.137)	all_hematologic(90;0.117)				ATGGACTCTTGTGGCTGACTT	0.438000														164			25		0	0	1	0	0
ZNF441	126068	broad.mit.edu	37	19	11891085	11891085	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:11891085C>T	uc010dyj.3	+	3	640	c.446C>T	c.(445-447)gCt>gTt	p.A149V	ZNF441_uc002msn.4_Missense_Mutation_p.A105V	NM_152355	NP_689568	Q8N8Z8	ZN441_HUMAN	Homo sapiens zinc finger protein 441 (ZNF441), mRNA.	149					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TGTGGGACAGCTTTCAGTTAT	0.388000														42			33		0	0	1	0	0
DEFA5	1670	broad.mit.edu	37	8	6913035	6913035	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:6913035C>T	uc003wra.1	-	1	243	c.203G>A	c.(202-204)cGa>cAa	p.R68Q		NM_021010	NP_066290	Q01523	DEF5_HUMAN	Homo sapiens defensin, alpha 5, Paneth cell-specific (DEFA5), mRNA.	68					defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space				NS(1)|lung(4)|skin(1)|stomach(1)	7				COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)		ACGGCCGGTTCGGCAATAGCA	0.567000														8			3		0	0	1	0	0
SPESP1	246777	broad.mit.edu	37	15	69238356	69238356	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:69238356G>T	uc002arn.2	+	1	637	c.483G>T	c.(481-483)atG>atT	p.M161I	MIR548H4_uc021spl.1_Intron|NOX5_uc002arq.2_Intron|NOX5_uc002arp.2_Intron|NOX5_uc010bid.2_Intron	NM_145658	NP_663633	Q6UW49	SPESP_HUMAN	Homo sapiens sperm equatorial segment protein 1 (SPESP1), mRNA.	161					multicellular organismal development	acrosomal vesicle				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	19						CACCAAGAATGTTGCCAGTTG	0.438000														54			38		4.92203e-23	6.40486e-23	1	1	0
SMYD5	10322	broad.mit.edu	37	2	73446052	73446052	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:73446052C>T	uc002siw.2	+	1	189	c.160C>T	c.(160-162)Ctg>Ttg	p.L54L	SMYD5_uc010yre.1_5'UTR	NM_006062	NP_006053	Q6GMV2	SMYD5_HUMAN	Homo sapiens SMYD family member 5 (SMYD5), mRNA.	54							metal ion binding			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13						AGAACGGCCCCTGGTGGCTGC	0.542000														18			9		0	0	1	0	0
GNPTAB	79158	broad.mit.edu	37	12	102158793	102158793	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:102158793G>A	uc001tit.3	-	12	2094	c.1902C>T	c.(1900-1902)gaC>gaT	p.D634D		NM_024312	NP_077288	Q3T906	GNPTA_HUMAN	Homo sapiens N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits (GNPTAB), mRNA.	634					cell differentiation	Golgi membrane|integral to membrane|nucleus	UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity|metal ion binding|transcription factor binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						CCTCCCTTGTGTCCACCTCCA	0.408000														67			45		0	0	1	0	0
FAM53B	9679	broad.mit.edu	37	10	126312126	126312126	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:126312126C>A	uc001lhv.1	-	4	1477	c.954G>T	c.(952-954)gaG>gaT	p.E318D	FAM53B_uc001lhu.1_Intron	NM_014661	NP_055476	Q14153	FA53B_HUMAN	Homo sapiens family with sequence similarity 53, member B (FAM53B), mRNA.	318										cervix(1)|lung(5)|ovary(2)|pancreas(1)	9		all_lung(145;0.0191)|Lung NSC(174;0.0301)|Colorectal(57;0.106)|all_neural(114;0.117)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.15)		GACCGCAGTCCTCTGTCCCTG	0.682000														12			3		0.115264	0.116841	1	1	0
B3GALT5	10317	broad.mit.edu	37	21	41033236	41033236	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:41033236C>T	uc021wjj.1	+	0	750	c.750C>T	c.(748-750)ctC>ctT	p.L250L	B3GALT5_uc002yyb.1_Silent_p.L250L|B3GALT5_uc002yye.2_Silent_p.L250L|B3GALT5_uc002yyi.1_Silent_p.L250L|B3GALT5_uc002yyj.1_Silent_p.L250L|B3GALT5_uc002yyk.1_Silent_p.L250L|B3GALT5_uc002yyl.1_Silent_p.L250L|B3GALT5_uc002yym.1_Silent_p.L250L	NM_033173	NP_149363	Q9Y2C3	B3GT5_HUMAN	Homo sapiens UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 5 (B3GALT5), transcript variant 5, mRNA.	250					protein glycosylation	Golgi membrane|endoplasmic reticulum|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	16		Prostate(19;2.55e-06)				GGCTCTGCCTCGAAAGGCTGA	0.552000														54			43		0	0	1	0	0
ZFP82	284406	broad.mit.edu	37	19	36884446	36884446	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:36884446G>A	uc002ody.1	-	4	1031	c.796C>T	c.(796-798)Cga>Tga	p.R266*		NM_133466	NP_597723	Q8N141	ZFP82_HUMAN	Homo sapiens zinc finger protein 82 homolog (mouse) (ZFP82), mRNA.	266					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.V265L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						AGTTGTCCTCGTACCCTAAAA	0.433000														83			53		0	0	1	0	0
PREP	5550	broad.mit.edu	37	6	105800935	105800935	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:105800935G>T	uc003prc.3	-	6	968	c.735C>A	c.(733-735)cgC>cgA	p.R245R		NM_002726	NP_002717	P48147	PPCE_HUMAN	Homo sapiens prolyl endopeptidase (PREP), mRNA.	245				R -> C (in Ref. 2; BAA04661).	proteolysis		serine-type endopeptidase activity	p.R245C(1)		breast(1)|endometrium(2)|large_intestine(7)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202)			Oxytocin(DB00107)	ACAAGACATAGCGGCCATCAT	0.353000														116			9		3.09899e-07	3.55757e-07	1	1	0
LZTS1	11178	broad.mit.edu	37	8	20110545	20110545	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:20110545C>T	uc003wzr.3	-	1	1008	c.897G>A	c.(895-897)ccG>ccA	p.P299P	LZTS1_uc010ltg.2_Silent_p.P299P	NM_021020	NP_066300	Q9Y250	LZTS1_HUMAN	Homo sapiens leucine zipper, putative tumor suppressor 1 (LZTS1), mRNA.	299					cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	Golgi apparatus|cell junction|dendritic spine|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		TGCAGCGCCGCGGCCGCTCCT	0.682000														23			16		0	0	1	0	0
PAX3	5077	broad.mit.edu	37	2	223160331	223160331	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:223160331T>C	uc010fwo.3	-	2	748	c.367A>G	c.(367-369)Aga>Gga	p.R123G	PAX3_uc002vmt.2_Missense_Mutation_p.R123G|PAX3_uc002vmy.2_Missense_Mutation_p.R122G|PAX3_uc002vmv.2_Missense_Mutation_p.R123G|PAX3_uc002vmw.2_Missense_Mutation_p.R123G|PAX3_uc002vmx.2_Missense_Mutation_p.R123G|PAX3_uc002vmz.2_Missense_Mutation_p.R123G|PAX3_uc002vna.2_Missense_Mutation_p.R123G|CCDC140_uc002vnb.1_5'Flank	NM_181457	NP_852122	P23760	PAX3_HUMAN	Homo sapiens paired box 3 (PAX3), transcript variant PAX3, mRNA.	123	Paired.				apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749)	NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	38		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGGTTCTCTCTTTTGTATTCC	0.542000			T	"""FOXO1A, NCOA1"""	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome							41			19		0	0	1	0	0
ADAM9	8754	broad.mit.edu	37	8	38940565	38940565	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:38940565A>G	uc003xmr.3	+	17	2119	c.2041A>G	c.(2041-2043)Agt>Ggt	p.S681G	ADAM9_uc010lwr.3_Non-coding_Transcript|ADAM9_uc011lcf.2_Intron|ADAM9_uc011lcg.2_Intron	NM_003816	NP_003807	Q13443	ADAM9_HUMAN	Homo sapiens ADAM metallopeptidase domain 9 (ADAM9), transcript variant 1, mRNA.	681	EGF-like.				PMA-inducible membrane protein ectodomain proteolysis|activation of MAPKK activity|cell-cell adhesion mediated by integrin|cell-matrix adhesion|keratinocyte differentiation|monocyte activation|positive regulation of cell adhesion mediated by integrin|positive regulation of keratinocyte migration|positive regulation of macrophage fusion|positive regulation of membrane protein ectodomain proteolysis|positive regulation of protein secretion|response to calcium ion|response to glucocorticoid stimulus|response to hydrogen peroxide|response to manganese ion|response to tumor necrosis factor|transforming growth factor beta receptor signaling pathway	extracellular space|integral to membrane|intrinsic to external side of plasma membrane	SH3 domain binding|collagen binding|integrin binding|laminin binding|metalloendopeptidase activity|protein kinase C binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;2.74e-07)			ATACGGAGGAAGTGTGGACAG	0.418000														43			4		0	0	1	0	0
TMEM132B	114795	broad.mit.edu	37	12	126128633	126128633	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:126128633C>T	uc001uhe.1	+	5	1442	c.1434C>T	c.(1432-1434)aaC>aaT	p.N478N	TMEM132B_uc001uhf.1_5'UTR	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	Homo sapiens transmembrane protein 132B (TMEM132B), mRNA.	478						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		TTTCCAACAACTGTGATTCCA	0.448000														24			7		0	0	1	0	0
XKR8	55113	broad.mit.edu	37	1	28290024	28290024	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:28290024C>T	uc001bph.1	+	1	387	c.310C>T	c.(310-312)Cgg>Tgg	p.R104W		NM_018053	NP_060523	Q9H6D3	XKR8_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 8 (XKR8), mRNA.	104						integral to membrane				endometrium(1)|large_intestine(2)|lung(1)	4		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00588)|all_lung(284;0.00645)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;4.72e-24)|Colorectal(126;1.52e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00572)|READ - Rectum adenocarcinoma(331;0.0526)		GCAGGAGCTGCGGCAGGGGCT	0.607000														34			13		0	0	1	0	0
INSC	387755	broad.mit.edu	37	11	15170751	15170751	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:15170751G>A	uc001mlz.3	+	1	142	c.31G>A	c.(31-33)Gac>Aac	p.D11N	INSC_uc001mly.3_Missense_Mutation_p.D58N|INSC_uc001mma.3_Missense_Mutation_p.D11N|INSC_uc010rcs.2_Missense_Mutation_p.D11N|INSC_uc001mmb.3_Missense_Mutation_p.D11N|INSC_uc001mmc.3_Missense_Mutation_p.D11N	NM_001042536	NP_001036001	Q1MX18	INSC_HUMAN	Homo sapiens inscuteable homolog (Drosophila) (INSC), transcript variant 2, mRNA.	58					cell differentiation|nervous system development	cytoplasm	binding	p.A10A(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						TCGCCACCTGGACTCCGTCAC	0.607000														22			10		0	0	1	0	0
GPR143	4935	broad.mit.edu	37	X	9711662	9711662	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:9711662C>A	uc004cst.2	-	5	858	c.710G>T	c.(709-711)aGg>aTg	p.R237M		NM_000273	NP_000264	P51810	GP143_HUMAN	Homo sapiens G protein-coupled receptor 143 (GPR143), mRNA.	237	Necessary for its G protein-activation ability and normal distribution of melanosomes.				calcium-mediated signaling using intracellular calcium source|eye pigment biosynthetic process|melanosome organization|melanosome transport|phosphatidylinositol-mediated signaling|regulation of calcium-mediated signaling|visual perception	Golgi apparatus|apical plasma membrane|integral to membrane|lysosomal membrane|melanosome membrane|membrane fraction	L-DOPA receptor activity|dopamine binding|protein binding|tyrosine binding			endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15		Hepatocellular(5;0.000888)				GGCTCCCATCCTCCTCTCGTT	0.378000														109			14		6.31663e-08	7.34157e-08	1	1	0
TMEM63B	55362	broad.mit.edu	37	6	44102296	44102296	+	Splice_Site	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:44102296A>G	uc003owr.3	+	2	41	c.-23_splice	c.e2-2		TMEM63B_uc003owq.1_5'UTR|TMEM63B_uc010jyy.1_Splice_Site|TMEM63B_uc003ows.3_5'Flank	NM_018426	NP_060896	Q5T3F8	TM63B_HUMAN	Homo sapiens transmembrane protein 63B (TMEM63B), mRNA.							integral to membrane	nucleotide binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4)	35	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)			CCCTCTGCCCAGGAGGACCAT	0.642000														17			5		0	0	1	0	0
PVRL4	81607	broad.mit.edu	37	1	161044518	161044518	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:161044518C>A	uc001fxo.2	-	4	1182	c.883G>T	c.(883-885)Gtg>Ttg	p.V295L	PVRL4_uc010pjy.1_5'Flank|PVRL4_uc010pjz.1_Missense_Mutation_p.V29L	NM_030916	NP_112178	Q96NY8	PVRL4_HUMAN	Homo sapiens poliovirus receptor-related 4 (PVRL4), mRNA.	295	Ig-like C2-type 2.				adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			TCCCCATCCACTCGTACCCCA	0.602000														11			17		0.146539	0.148518	1	1	0
MYH1	4619	broad.mit.edu	37	17	10399784	10399784	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:10399784A>C	uc002gmo.3	-	33	4833	c.4739T>G	c.(4738-4740)aTt>aGt	p.I1580S	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	1580						muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity	p.I1580T(2)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TTTTTCAGCAATTTTCCTATC	0.448000														131			17		0	0	1	0	0
CNOT10	25904	broad.mit.edu	37	3	32778978	32778978	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:32778978T>G	uc011axj.1	+	12	1848	c.1771T>G	c.(1771-1773)Tta>Gta	p.L591V	CNOT10_uc011axi.1_Missense_Mutation_p.L303V|CNOT10_uc003cfc.1_Missense_Mutation_p.L531V|CNOT10_uc003cfd.1_Missense_Mutation_p.L530V|CNOT10_uc003cfe.1_Intron|CNOT10_uc010hfv.1_Intron|CNOT10_uc010hfw.1_Missense_Mutation_p.L226V	NM_015442	NP_056257	Q9H9A5	CNOTA_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 10 (CNOT10), mRNA.	531					nuclear-transcribed mRNA poly(A) tail shortening	cytosol	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(3)	23						ATTAGAAAACTTAAAGTGAGT	0.373000														35			4		0	0	1	0	0
LIN9	286826	broad.mit.edu	37	1	226453982	226453982	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:226453982G>A	uc001hqa.2	-	8	1226	c.916C>T	c.(916-918)Cgg>Tgg	p.R306W	LIN9_uc001hqb.2_Missense_Mutation_p.R271W|LIN9_uc001hqc.3_Missense_Mutation_p.R238W|LIN9_uc009xel.1_Missense_Mutation_p.R271W	NM_173083	NP_775106	Q5TKA1	LIN9_HUMAN	Homo sapiens lin-9 homolog (C. elegans) (LIN9), mRNA.	290					DNA replication|cell cycle	nucleoplasm		p.R306W(8)		breast(3)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.131)		CGAGAAGGCCGCTGTTTTTGT	0.338000														15			17		0	0	1	0	0
KIAA0368	23392	broad.mit.edu	37	9	114195561	114195561	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:114195561C>T	uc004bfe.1	-	8	1334	c.1334G>A	c.(1333-1335)cGc>cAc	p.R445H	KIAA0368_uc010muc.1_Missense_Mutation_p.R267H	NM_001080398	NP_001073867			Homo sapiens KIAA0368 (KIAA0368), mRNA.									p.R445C(1)		NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						CACACTGTGGCGTGTATCACT	0.423000														27			27		0	0	1	0	0
GEN1	348654	broad.mit.edu	37	2	17946245	17946245	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:17946245G>A	uc002rct.2	+	3	503	c.430G>A	c.(430-432)Gct>Act	p.A144T	SMC6_uc010exo.3_Intron|GEN1_uc010yjs.1_Missense_Mutation_p.A144T|GEN1_uc002rcu.2_Missense_Mutation_p.A144T	NM_182625	NP_872431	Q17RS7	GEN_HUMAN	Homo sapiens Gen endonuclease homolog 1 (Drosophila) (GEN1), transcript variant 1, mRNA.	144	I-domain.				DNA repair	nucleus	DNA binding|endonuclease activity|metal ion binding			breast(6)|central_nervous_system(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TTATCTCAATGCTGGTGGTCA	0.473000								Homologous recombination						60			33		0	0	1	0	0
MIOS	54468	broad.mit.edu	37	7	7646672	7646672	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:7646672G>A	uc003srf.3	+	12	2885	c.2577G>A	c.(2575-2577)atG>atA	p.M859I	MIOS_uc003srg.3_Missense_Mutation_p.M394I|MIOS_uc010ktq.3_Missense_Mutation_p.M254I	NM_019005	NP_061878	Q9NXC5	MIO_HUMAN	Homo sapiens missing oocyte, meiosis regulator, homolog (Drosophila) (MIOS), mRNA.	859										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GTAAATGTATGCAGTTGGATA	0.418000														53			50		0	0	1	0	0
MPDZ	8777	broad.mit.edu	37	9	13122139	13122139	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:13122139C>T	uc010mia.1	-	35	5041	c.4984G>A	c.(4984-4986)Gaa>Aaa	p.E1662K	MPDZ_uc003zkx.4_5'Flank|MPDZ_uc003zky.4_Intron|MPDZ_uc010mib.3_Missense_Mutation_p.E367K|MPDZ_uc010mhx.3_Missense_Mutation_p.E484K|MPDZ_uc011lmm.2_Missense_Mutation_p.E521K|MPDZ_uc003zkz.4_Missense_Mutation_p.E355K|MPDZ_uc010mhz.3_Missense_Mutation_p.E1629K|MPDZ_uc011lmn.2_Missense_Mutation_p.E1629K|MPDZ_uc010mhy.3_Missense_Mutation_p.E1662K|MPDZ_uc003zlb.4_Missense_Mutation_p.E1662K	NM_003829	NP_003820	O75970	MPDZ_HUMAN	Homo sapiens multiple PDZ domain protein (MPDZ), mRNA.	1662	PDZ 10.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		GCTGCTCCTTCTTCATAAACT	0.418000														32			11		0	0	1	0	0
LRRC47	57470	broad.mit.edu	37	1	3703680	3703680	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:3703680G>A	uc001akx.1	-	1	838	c.810C>T	c.(808-810)ggC>ggT	p.G270G		NM_020710	NP_065761	Q8N1G4	LRC47_HUMAN	Homo sapiens leucine rich repeat containing 47 (LRRC47), mRNA.	270					translation		RNA binding|phenylalanine-tRNA ligase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17	all_cancers(77;0.0375)|Ovarian(185;0.0634)|all_lung(157;0.208)|Lung NSC(156;0.21)	all_epithelial(116;1.34e-16)|all_lung(118;2.53e-06)|Lung NSC(185;0.00028)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)		Epithelial(90;5.49e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.43e-22)|GBM - Glioblastoma multiforme(42;3.69e-16)|Colorectal(212;1.21e-05)|COAD - Colon adenocarcinoma(227;5.87e-05)|Kidney(185;0.000367)|BRCA - Breast invasive adenocarcinoma(365;0.000704)|KIRC - Kidney renal clear cell carcinoma(229;0.00567)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)		CCTCGGCACGGCCCTTGCCCT	0.657000														23			12		0	0	1	0	0
SLC9A5	6553	broad.mit.edu	37	16	67292254	67292254	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:67292254G>A	uc002esm.3	+	9	1593	c.1530G>A	c.(1528-1530)caG>caA	p.Q510Q	SLC9A5_uc010cee.3_Silent_p.Q215Q|SLC9A5_uc010vji.2_Silent_p.Q14Q	NM_004594	NP_004585	Q14940	SL9A5_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 5 (SLC9A5), mRNA.	510					regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		ACCTGAGTCAGCTGCTGATGC	0.587000														33			17		0	0	1	0	0
PPL	5493	broad.mit.edu	37	16	4934269	4934269	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:4934269G>A	uc002cyd.1	-	21	4477	c.4387C>T	c.(4387-4389)Cga>Tga	p.R1463*		NM_002705	NP_002696	O60437	PEPL_HUMAN	Homo sapiens periplakin (PPL), mRNA.	1463					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						AGCTGGAGTCGGAGCAGGGCA	0.647000														81			8		0	0	1	0	0
CD300A	11314	broad.mit.edu	37	17	72470740	72470740	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:72470740C>A	uc002jkv.3	+	2	770	c.449C>A	c.(448-450)cCt>cAt	p.P150H	CD300A_uc002jkw.3_Missense_Mutation_p.P37H|CD300A_uc010dfr.3_Missense_Mutation_p.P37H|CD300A_uc010dfs.3_Intron	NM_007261	NP_009192	Q9UGN4	CLM8_HUMAN	Homo sapiens CD300a molecule (CD300A), mRNA.	150					cell adhesion	integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1)	16						GCATTTCCACCTGTATCATCC	0.537000														50			6		0.00116845	0.00123466	1	1	0
AKT1	207	broad.mit.edu	37	14	105241307	105241307	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:105241307C>T	uc001ypk.3	-	6	1155	c.601G>A	c.(601-603)Gtc>Atc	p.V201I	AKT1_uc001ypl.3_Missense_Mutation_p.V201I|AKT1_uc010axa.3_Missense_Mutation_p.V201I|AKT1_uc001ypm.3_Missense_Mutation_p.V201I|AKT1_uc001ypn.3_Missense_Mutation_p.V201I|AKT1_uc010tyk.2_Missense_Mutation_p.V139I	NM_005163	NP_005154	P31749	AKT1_HUMAN	Homo sapiens v-akt murine thymoma viral oncogene homolog 1 (AKT1), transcript variant 1, mRNA.	201	Protein kinase.				G-protein coupled receptor protein signaling pathway|T cell costimulation|activation of pro-apoptotic gene products|activation-induced cell death of T cells|endocrine pancreas development|glucose metabolic process|glycogen biosynthetic process|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|mRNA metabolic process|negative regulation of fatty acid beta-oxidation|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|nitric oxide biosynthetic process|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of blood vessel endothelial cell migration|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of establishment of protein localization in plasma membrane|positive regulation of fat cell differentiation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|positive regulation of nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein autophosphorylation|protein import into nucleus, translocation|regulation of neuron projection development|regulation of translation|response to UV-A|response to fluid shear stress|response to heat	cytosol|nucleoplasm|plasma membrane	enzyme binding|identical protein binding|nitric-oxide synthase regulator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein serine/threonine kinase activity			NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15)	176		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)	TTCTGCAGGACGCGGTTCTCG	0.677000		1	Mis		"""breast, colorectal, ovarian, NSCLC"""									33			15		0	0	1	0	0
ZNF300	91975	broad.mit.edu	37	5	150276166	150276166	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:150276166G>T	uc021yfx.1	-	6	1111	c.683C>A	c.(682-684)cCt>cAt	p.P228H	ZNF300_uc021yfy.1_Missense_Mutation_p.P212H|ZNF300_uc021yfz.1_Missense_Mutation_p.P176H	NM_001172831	NP_001166303	Q96RE9	ZN300_HUMAN	Homo sapiens zinc finger protein 300 (ZNF300), transcript variant 1, mRNA.	212					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACTCTGATCAGGTTTTTTTCT	0.328000														101			20		2.37509e-13	2.95421e-13	1	1	0
RACGAP1	29127	broad.mit.edu	37	12	50400277	50400277	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:50400277A>G	uc001rvt.2	-	4	538	c.228T>C	c.(226-228)cgT>cgC	p.R76R	RACGAP1_uc009zlm.1_Silent_p.R76R|RACGAP1_uc001rvs.2_Silent_p.R76R|RACGAP1_uc001rvu.2_Silent_p.R76R	NM_013277	NP_037409	Q9H0H5	RGAP1_HUMAN	Homo sapiens Rac GTPase activating protein 1 (RACGAP1), transcript variant 1, mRNA.	76					blood coagulation|cytokinesis, actomyosin contractile ring assembly|cytokinesis, initiation of separation|embryo development|microtubule-based movement|neuroblast proliferation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|spermatogenesis|sulfate transport	acrosomal vesicle|cytosol|microtubule|midbody|nucleus|spindle	GTPase activator activity|alpha-tubulin binding|beta-tubulin binding|gamma-tubulin binding|metal ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(6)	14						CCACCTGATTACGTGCATGCT	0.483000														58			48		0	0	1	0	0
CASQ1	844	broad.mit.edu	37	1	160162604	160162604	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:160162604G>A	uc010pja.2	+	1	549	c.292G>A	c.(292-294)Gtc>Atc	p.V98I		NM_001231	NP_001222	P31415	CASQ1_HUMAN	Homo sapiens calsequestrin 1 (fast-twitch, skeletal muscle) (CASQ1), nuclear gene encoding mitochondrial protein, mRNA.	98						mitochondrial matrix|sarcoplasmic reticulum lumen|smooth endoplasmic reticulum	calcium ion binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	21	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			AGCAGCCCAAGTCCTAGAAGA	0.498000											OREG0013927	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		151			54		0	0	1	0	0
ZNF551	90233	broad.mit.edu	37	19	58262160	58262160	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58262160T>C	uc002qpx.3	+	1	264	c.41T>C	c.(40-42)gTg>gCg	p.V14A	ZNF587_uc002qqb.2_5'UTR|ZNF551_uc002qqa.3_Missense_Mutation_p.V14A	NM_173632	NP_775903	Q7Z340	ZN551_HUMAN	Homo sapiens zinc finger protein 776 (ZNF776), mRNA.	29					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		CAGGGCACTGTGACCTTTGAA	0.498000														54			7		0	0	1	0	0
AFTPH	54812	broad.mit.edu	37	2	64779664	64779664	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:64779664T>C	uc002sdc.3	+	0	1088	c.1056T>C	c.(1054-1056)tgT>tgC	p.C352C	AFTPH_uc002scz.3_Silent_p.C352C|AFTPH_uc002sda.3_Silent_p.C352C|AFTPH_uc002sdb.3_Silent_p.C352C	NM_203437	NP_982261	Q6ULP2	AFTIN_HUMAN	Homo sapiens aftiphilin (AFTPH), transcript variant 1, mRNA.	352					protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						GAGAACAATGTAAAACTGAAG	0.383000														60			34		0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10933894	10933894	+	Missense_Mutation	SNP	C	A	A	rs148357558		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:10933894C>A	uc002yip.1	-	16	1353	c.985G>T	c.(985-987)Gat>Tat	p.D329Y	TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Missense_Mutation_p.D311Y|TPTE_uc002yir.1_Missense_Mutation_p.D291Y|TPTE_uc010gkv.1_Missense_Mutation_p.D191Y	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	329	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.G328R(1)|p.D311N(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TTTTCAAGATCTTGAGCCATC	0.318000														329			63		6.72169e-28	8.84038e-28	1	1	0
RYR2	6262	broad.mit.edu	37	1	237777567	237777567	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:237777567C>A	uc001hyl.1	+	36	5259	c.5139C>A	c.(5137-5139)tcC>tcA	p.S1713S		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	1713	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ACCTGAGCTCCTATGCCACTG	0.507000														34			4		0.150653	0.152248	1	1	0
NEB	4703	broad.mit.edu	37	2	152506778	152506778	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:152506778C>T	uc021vrb.1	-	51	7372	c.7343G>A	c.(7342-7344)cGt>cAt	p.R2448H	NEB_uc002txu.3_Missense_Mutation_p.R2448H|NEB_uc021vrc.1_Missense_Mutation_p.R2448H|NEB_uc010fnx.3_Missense_Mutation_p.R2448H|NEB_uc021vrd.1_Missense_Mutation_p.R2448H	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	2448					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle	p.R2448C(1)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TGGAGGCTGACGATATTTCTT	0.463000														47			29		0	0	1	0	0
CHD9	80205	broad.mit.edu	37	16	53279639	53279639	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:53279639C>T	uc002ehb.3	+	13	3495	c.3331C>T	c.(3331-3333)Cgg>Tgg	p.R1111W	CHD9_uc002egy.3_Missense_Mutation_p.R1111W|CHD9_uc002ehc.3_Missense_Mutation_p.R1111W|CHD9_uc002ehf.3_Missense_Mutation_p.R225W|CHD9_uc002ehg.2_Missense_Mutation_p.R225W|CHD9_uc002ehd.2_Missense_Mutation_p.R637W|CHD9_uc002ehe.1_Missense_Mutation_p.R225W	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 9 (CHD9), mRNA.	1111					cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				GAAATACTACCGGGCTATCTT	0.358000														36			15		0	0	1	0	0
NR2E1	7101	broad.mit.edu	37	6	108497746	108497746	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:108497746G>A	uc003psg.3	+	3	1054	c.299G>A	c.(298-300)cGc>cAc	p.R100H		NM_003269	NP_003260	Q9Y466	NR2E1_HUMAN	Homo sapiens nuclear receptor subfamily 2, group E, member 1 (NR2E1), mRNA.	100					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding	p.R100C(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(16)|prostate(1)|skin(3)	30		all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637)		BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)		TCCACCATCCGCAAGCAAGTG	0.672000														16			7		0	0	1	0	0
KLHL14	57565	broad.mit.edu	37	18	30260222	30260222	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:30260222G>A	uc002kxm.1	-	6	1886	c.1498C>T	c.(1498-1500)Cga>Tga	p.R500*		NM_020805	NP_065856	Q9P2G3	KLH14_HUMAN	Homo sapiens kelch-like 14 (Drosophila) (KLHL14), mRNA.	500						cytosol|endoplasmic reticulum membrane				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						TCTTGTTTTCGAGCCCAGACA	0.383000														55			46		0	0	1	0	0
SEC24A	10802	broad.mit.edu	37	5	134059261	134059261	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:134059261A>C	uc003kzs.3	+	21	3360	c.3068A>C	c.(3067-3069)gAc>gCc	p.D1023A	SEC24A_uc011cxu.2_Missense_Mutation_p.D787A	NM_021982	NP_068817	O95486	SC24A_HUMAN	Homo sapiens SEC24 family, member A (S. cerevisiae) (SEC24A), transcript variant 1, mRNA.	1023					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|Golgi membrane|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	zinc ion binding			NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TAACAGACAGACCTTCCAGAA	0.308000														100			17		0	0	1	0	0
PTPLAD2	401494	broad.mit.edu	37	9	21015896	21015896	+	Splice_Site	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:21015896C>T	uc010miq.2	-	4	429	c.383_splice	c.e4+1	p.R128_splice	PTPLAD2_uc010mir.1_Splice_Site_p.R128_splice	NM_001010915	NP_001010915	Q5VWC8	HACD4_HUMAN	Homo sapiens protein tyrosine phosphatase-like A domain containing 2 (PTPLAD2), mRNA.	128					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	lyase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	10				Lung(24;6.02e-14)|LUSC - Lung squamous cell carcinoma(38;1.29e-10)		TGCCTTCTTACCTAACCATAT	0.378000														74			9		0	0	1	0	0
ATG4D	84971	broad.mit.edu	37	19	10662938	10662938	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10662938A>G	uc002mov.3	+	8	1300	c.1180A>G	c.(1180-1182)Acc>Gcc	p.T394A	ATG4D_uc010xlh.2_Missense_Mutation_p.T331A|ATG4D_uc010dxh.3_Non-coding_Transcript|ATG4D_uc010dxi.3_Non-coding_Transcript|ATG4D_uc010dxj.3_Missense_Mutation_p.T61A	NM_032885	NP_116274	Q86TL0	ATG4D_HUMAN	Homo sapiens ATG4 autophagy related 4 homolog D (S. cerevisiae) (ATG4D), mRNA.	394					autophagy|protein transport	cytoplasm	cysteine-type endopeptidase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	19			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			CCCAAGCTGTACCGTGGGCTT	0.612000														23			11		0	0	1	0	0
C20orf111	51526	broad.mit.edu	37	20	42826274	42826274	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:42826274C>T	uc002xlk.3	-	3	549	c.297G>A	c.(295-297)gcG>gcA	p.A99A		NM_016470	NP_057554	Q9NX31	CT111_HUMAN	Homo sapiens chromosome 20 open reading frame 111 (C20orf111), mRNA.	99								p.I98V(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	14		Myeloproliferative disorder(115;0.028)	COAD - Colon adenocarcinoma(18;0.00189)			TGGAAGAAGACGCTATTGTAC	0.493000														49			29		0	0	1	0	0
SLC5A11	115584	broad.mit.edu	37	16	24888627	24888627	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:24888627G>A	uc002dmu.3	+	6	757	c.526G>A	c.(526-528)Gat>Aat	p.D176N	SLC5A11_uc002dms.3_Missense_Mutation_p.D112N|SLC5A11_uc010vcd.2_Missense_Mutation_p.D141N|SLC5A11_uc002dmt.3_Missense_Mutation_p.D112N|SLC5A11_uc010vce.2_Missense_Mutation_p.D106N|SLC5A11_uc010bxt.3_Missense_Mutation_p.D112N	NM_052944	NP_443176	Q8WWX8	SC5AB_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 11 (SLC5A11), mRNA.	176					apoptosis|carbohydrate transport|sodium ion transport	integral to membrane|plasma membrane	polyol transmembrane transporter activity|symporter activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49				GBM - Glioblastoma multiforme(48;0.0365)		TTTGCACCTGGATCTGTACCT	0.483000														183			151		0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113132260	113132260	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:113132260C>T	uc010mtz.3	-	46	10974	c.10637G>A	c.(10636-10638)tGt>tAt	p.C3546Y	SVEP1_uc010mty.3_Missense_Mutation_p.C1472Y|U6_uc022blr.1_5'Flank	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	3546	EGF-like 9.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	p.G3546R(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TGGTCTTACACATTTTCCACC	0.368000														9			8		0	0	1	0	0
SLC4A1	6521	broad.mit.edu	37	17	42338163	42338163	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:42338163C>A	uc002igf.4	-	4	338	c.189G>T	c.(187-189)gaG>gaT	p.E63D	SLC4A1_uc021tyc.1_Missense_Mutation_p.E63D	NM_000342	NP_000333	P02730	B3AT_HUMAN	Homo sapiens solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group) (SLC4A1), mRNA.	63					bicarbonate transport|cellular ion homeostasis	Z disc|basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		CCATCACCAGCTCCTGCAGCT	0.617000														30			4		1	1	1	1	0
THBS2	7058	broad.mit.edu	37	6	169622519	169622519	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:169622519C>T	uc003qwt.3	-	19	3294	c.3046G>A	c.(3046-3048)Gta>Ata	p.V1016I		NM_003247	NP_003238	P35442	TSP2_HUMAN	Homo sapiens thrombospondin 2 (THBS2), mRNA.	1016	TSP C-terminal.				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		TCAGTGTTTACGTAGAATGTG	0.522000														37			23		0	0	1	0	0
TRIM13	10206	broad.mit.edu	37	13	50586765	50586765	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:50586765G>A	uc001vdp.1	+	3	1116	c.698G>A	c.(697-699)cGg>cAg	p.R233Q	DLEU2_uc001vdn.1_Intron|DLEU2_uc001vdo.1_Intron|KCNRG_uc001vdt.3_5'Flank|KCNRG_uc001vdu.3_5'Flank|TRIM13_uc001vdq.1_Missense_Mutation_p.R230Q|TRIM13_uc001vdr.1_Missense_Mutation_p.R230Q|TRIM13_uc001vds.1_Missense_Mutation_p.R230Q|TRIM13_uc021rjq.1_Missense_Mutation_p.R230Q	NM_001007278	NP_998755	O60858	TRI13_HUMAN	Homo sapiens tripartite motif containing 13 (TRIM13), transcript variant 4, mRNA.	230					ER-associated protein catabolic process|anatomical structure morphogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination	cytoplasm|endoplasmic reticulum membrane|integral to membrane	protein binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(5)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	10		Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.53e-10)|COAD - Colon adenocarcinoma(199;0.205)		CAGGAGCAACGGATGGCCTTT	0.403000														50			21		0	0	1	0	0
GJC1	10052	broad.mit.edu	37	17	42882694	42882694	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:42882694G>A	uc002ihj.3	-	1	1003	c.492C>T	c.(490-492)ggC>ggT	p.G164G	GJC1_uc002ihk.3_Silent_p.G164G|GJC1_uc002ihl.3_Silent_p.G164G|GJC1_uc021tyf.1_Silent_p.G164G	NM_005497	NP_005488	P36383	CXG1_HUMAN	Homo sapiens gap junction protein, gamma 1, 45kDa (GJC1), transcript variant 1, mRNA.	164					cellular membrane organization|gap junction assembly|muscle contraction|synaptic transmission|transport	connexon complex|integral to membrane				NS(1)|kidney(1)|large_intestine(5)|liver(1)|lung(10)|prostate(1)	19		Prostate(33;0.0959)				TCCGTCGTCGGCCATCATGCT	0.468000														83			58		0	0	1	0	0
CDC42EP2	10435	broad.mit.edu	37	11	65088786	65088786	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:65088786G>T	uc021qli.1	+	0	417	c.417G>T	c.(415-417)caG>caT	p.Q139H	CDC42EP2_uc001odl.3_Missense_Mutation_p.Q139H	NM_006779	NP_006770	O14613	BORG1_HUMAN	Homo sapiens CDC42 effector protein (Rho GTPase binding) 2 (CDC42EP2), mRNA.	139					actin filament organization|positive regulation of actin filament polymerization|positive regulation of pseudopodium assembly|regulation of cell shape	cytoplasm|cytoskeleton|endomembrane system|plasma membrane	GTP-Rho binding|Rho GTPase activator activity			lung(1)	1						AGACCCCTCAGCCTTCCCCAC	0.672000														36			23		1.10513e-12	1.3661e-12	1	1	0
IRF1	3659	broad.mit.edu	37	5	131820178	131820178	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:131820178C>A	uc003kxa.2	-	8	963	c.729G>T	c.(727-729)caG>caT	p.Q243H	C5orf56_uc010jds.2_Intron|IRF1_uc003kxd.2_Intron|IRF1_uc003kxb.2_Missense_Mutation_p.Q243H	NM_002198	NP_002189	P10914	IRF1_HUMAN	Homo sapiens interferon regulatory factor 1 (IRF1), mRNA.	243					blood coagulation|cellular response to mechanical stimulus|interferon-gamma-mediated signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleoplasm				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|urinary_tract(1)	11		all_cancers(142;0.026)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	LUAD - Lung adenocarcinoma(142;0.247)		GCCACTCCGACTGCTCCAAGA	0.567000														52			29		3.57733e-08	4.17926e-08	1	1	0
TTC38	55020	broad.mit.edu	37	22	46677495	46677495	+	Splice_Site	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:46677495G>T	uc003bhi.3	+	7	692	c.616_splice	c.e7-1	p.A206_splice	TTC38_uc011aqx.2_Splice_Site_p.A148_splice	NM_017931	NP_060401	Q5R3I4	TTC38_HUMAN	Homo sapiens tetratricopeptide repeat domain 38 (TTC38), mRNA.	206							binding			endometrium(4)|large_intestine(3)|lung(4)|ovary(1)	12						ACCCTGCGTAGGCTTTATCTA	0.577000														60			20		4.63292e-17	5.89218e-17	1	1	0
NPR2	4882	broad.mit.edu	37	9	35805938	35805938	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:35805938G>A	uc003zyd.3	+	13	2159	c.2159G>A	c.(2158-2160)cGc>cAc	p.R720H	NPR2_uc010mlb.3_Missense_Mutation_p.R696H	NM_003995	NP_003986	P20594	ANPRB_HUMAN	Homo sapiens natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B) (NPR2), mRNA.	720	Protein kinase.				intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure	integral to membrane|plasma membrane	GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	ATAGCACTTCGCAGTGGTCCT	0.547000														49			40		0	0	1	0	0
KIF2C	11004	broad.mit.edu	37	1	45227592	45227592	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:45227592C>T	uc001cmg.4	+	16	1803	c.1688C>T	c.(1687-1689)gCc>gTc	p.A563V	KIF2C_uc010olb.2_Missense_Mutation_p.A522V|KIF2C_uc010olc.2_Missense_Mutation_p.A450V|KIF2C_uc001cmh.4_Missense_Mutation_p.A509V	NM_006845	NP_006836	Q99661	KIF2C_HUMAN	Homo sapiens kinesin family member 2C (KIF2C), mRNA.	563					blood coagulation|cell division|cell proliferation|chromosome segregation|establishment or maintenance of microtubule cytoskeleton polarity|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|kinesin complex|microtubule|nucleus	ATP binding|centromeric DNA binding|microtubule motor activity|microtubule plus-end binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(1)|skin(1)|urinary_tract(1)	34	Acute lymphoblastic leukemia(166;0.155)					TTGCAGATTGCCACGATCTCA	0.507000														65			23		0	0	1	0	0
NUP188	23511	broad.mit.edu	37	9	131760483	131760483	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:131760483C>T	uc004bws.1	+	30	3427	c.3405C>T	c.(3403-3405)gaC>gaT	p.D1135D	NUP188_uc004bwu.3_Silent_p.D478D	NM_015354	NP_056169	Q5SRE5	NU188_HUMAN	Homo sapiens nucleoporin 188kDa (NUP188), mRNA.	1135					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						TCTTTCTTGACGTGCTTGATG	0.443000														144			80		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9016986	9016986	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9016986C>A	uc002mkp.3	-	26	38213	c.38009G>T	c.(38008-38010)aGc>aTc	p.S12670I		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	12672					cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.S12670N(1)		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						CTCACTGCTGCTGGTGGGCAC	0.532000														38			8		0.00307968	0.00322291	1	1	0
SACS	26278	broad.mit.edu	37	13	23907741	23907741	+	Missense_Mutation	SNP	T	C	C	rs147317123	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:23907741T>C	uc001uon.2	-	9	10863	c.10274A>G	c.(10273-10275)aAa>aGa	p.K3425R	SACS_uc001uoo.2_Missense_Mutation_p.K3278R|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA.	3425					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|Hsp70 protein binding|chaperone binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TGTTCCAAATTTTCCAATGCT	0.363000														86			14		0	0	1	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38610010	38610010	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:38610010T>C	uc002ohk.3	+	8	2865	c.2356T>C	c.(2356-2358)Ttc>Ctc	p.F786L		NM_015073	NP_055888	O60292	SI1L3_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 3 (SIPA1L3), mRNA.	786	Rap-GAP.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			TGGAACCACATTCCGCAAATC	0.552000														45			28		0	0	1	0	0
PLAT	5327	broad.mit.edu	37	8	42033629	42033629	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:42033629C>T	uc003xos.2	-	13	1780	c.1571G>A	c.(1570-1572)cGc>cAc	p.R524H	PLAT_uc010lxf.1_Missense_Mutation_p.R441H|PLAT_uc010lxg.1_Missense_Mutation_p.R349H|PLAT_uc003xot.2_Missense_Mutation_p.R478H|PLAT_uc011lcm.1_Missense_Mutation_p.R435H|PLAT_uc011lcn.1_Missense_Mutation_p.R398H	NM_000930	NP_000921	P00750	TPA_HUMAN	Homo sapiens plasminogen activator, tissue (PLAT), transcript variant 1, mRNA.	524	Peptidase S1.				blood coagulation|fibrinolysis|negative regulation of proteolysis|protein modification process|proteolysis	cell surface|cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1)	27	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Iloprost(DB01088)|Reteplase(DB00015)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	CAAAGTCATGCGGCCATCGTT	0.542000														10			6		0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10480458	10480458	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:10480458C>T	uc003wtc.3	-	1	483	c.254G>A	c.(253-255)cGg>cAg	p.R85Q		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	85					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		ATGCAGGCCCCGGGGTGTGGT	0.652000														18			10		0	0	1	0	0
ABCA3	21	broad.mit.edu	37	16	2348503	2348503	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:2348503C>T	uc002cpy.1	-	14	2492	c.1780G>A	c.(1780-1782)Ggg>Agg	p.G594R	ABCA3_uc010bsk.1_Missense_Mutation_p.G536R|ABCA3_uc010bsl.1_Missense_Mutation_p.G594R	NM_001089	NP_001080	Q99758	ABCA3_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 3 (ABCA3), mRNA.	594	ABC transporter 1.				response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				ATTTCATACCCGCTGATGTAT	0.587000														37			19		0	0	1	0	0
C2orf29	55571	broad.mit.edu	37	2	101885772	101885772	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:101885772T>C	uc002taw.4	+	6	1512	c.1430T>C	c.(1429-1431)tTc>tCc	p.F477S		NM_017546	NP_060016	Q9UKZ1	CB029_HUMAN	Homo sapiens chromosome 2 open reading frame 29 (C2orf29), mRNA.	477					cell proliferation|nuclear-transcribed mRNA poly(A) tail shortening	cytosol				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(4)|ovary(3)|pancreas(1)|skin(1)	17						GTGCAGGCATTCTGTATTGAA	0.398000														64			10		0	0	1	0	0
OCRL	4952	broad.mit.edu	37	X	128723882	128723882	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:128723882C>T	uc004euq.3	+	22	2695	c.2530C>T	c.(2530-2532)Cga>Tga	p.R844*	OCRL_uc004eur.3_Nonsense_Mutation_p.R836*|OCRL_uc010nrb.3_Intron	NM_000276	NP_000267	Q01968	OCRL_HUMAN	Homo sapiens oculocerebrorenal syndrome of Lowe (OCRL), transcript variant a, mRNA.	844	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	Golgi stack|Golgi-associated vesicle|clathrin-coated vesicle|cytosol|early endosome	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						GGCATTCCTTCGAGAACTCTT	0.423000														151			14		0	0	1	0	0
H19	283120	broad.mit.edu	37	11	2016536	2016536	+	RNA	SNP	G	T	T	rs11542721		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:2016536G>T	uc021qbx.1	-	0		c.268C>A			H19_uc021qby.1_Non-coding_Transcript|H19_uc001lva.4_Non-coding_Transcript|H19_uc021qbz.1_Non-coding_Transcript					Homo sapiens PRO2605 mRNA, complete cds.																		GGAGCTTCCAGACTAGGCGAG	0.682000									Beckwith-Wiedemann syndrome					40			15		1.99824e-07	2.30332e-07	1	1	0
SLC25A31	83447	broad.mit.edu	37	4	128688327	128688327	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:128688327C>T	uc003ifl.3	+	3	731	c.585C>T	c.(583-585)ggC>ggT	p.G195G		NM_031291	NP_112581	Q9H0C2	ADT4_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 31 (SLC25A31), nuclear gene encoding mitochondrial protein, mRNA.	195					transmembrane transport	cilium|flagellum|integral to membrane|mitochondrial inner membrane	binding|transporter activity			NS(1)|breast(1)|large_intestine(10)|lung(8)|skin(2)	22						CAGTACAGGGCATCATTGTGT	0.378000														131			9		0	0	1	0	0
C2orf71	388939	broad.mit.edu	37	2	29296260	29296260	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:29296260C>T	uc002rmt.2	-	0	868	c.868G>A	c.(868-870)Ggc>Agc	p.G290S		NM_001029883	NP_001025054	A6NGG8	CB071_HUMAN	Homo sapiens chromosome 2 open reading frame 71 (C2orf71), mRNA.	290					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						AGGAAGCTGCCGGTGAGCGAG	0.557000														59			34		0	0	1	0	0
SERPINB1	1992	broad.mit.edu	37	6	2836162	2836162	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:2836162G>A	uc003mub.3	-	5	707	c.663C>T	c.(661-663)taC>taT	p.Y221Y		NM_030666	NP_109591	P30740	ILEU_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 1 (SERPINB1), mRNA.	221					regulation of proteolysis	cytoplasm|extracellular space	serine-type endopeptidase inhibitor activity			breast(4)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(2)|ovary(2)	13	Ovarian(93;0.0412)			OV - Ovarian serous cystadenocarcinoma(45;0.0717)		CCTCGCCTTGGTAAGGCAGTT	0.488000														30			7		0	0	1	0	0
IPO13	9670	broad.mit.edu	37	1	44415727	44415727	+	Silent	SNP	G	A	A	rs144725438	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:44415727G>A	uc001ckx.3	+	1	1518	c.723G>A	c.(721-723)gcG>gcA	p.A241A		NM_014652	NP_055467	O94829	IPO13_HUMAN	Homo sapiens importin 13 (IPO13), mRNA.	241					protein import into nucleus	cytoplasm|nucleus	protein binding|protein transporter activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				ACTGTGAGGCGCTCATTCAGG	0.597000														14			7		0	0	1	0	0
YME1L1	10730	broad.mit.edu	37	10	27431370	27431370	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:27431370G>A	uc001iti.3	-	4	757	c.547C>T	c.(547-549)Cga>Tga	p.R183*	YME1L1_uc001itj.3_Nonsense_Mutation_p.R126*|YME1L1_uc010qdl.2_Intron	NM_139312	NP_647473	Q96TA2	YMEL1_HUMAN	Homo sapiens YME1-like 1 (S. cerevisiae) (YME1L1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	183					protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						GAATGATGTCGATACAAGCAA	0.308000														86			67		0	0	1	0	0
ITFG2	55846	broad.mit.edu	37	12	2931989	2931989	+	Silent	SNP	C	T	T	rs61744187	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:2931989C>T	uc001qlb.2	+	9	1118	c.978C>T	c.(976-978)tgC>tgT	p.C326C	ITFG2_uc010seb.2_Silent_p.C149C|ITFG2_uc010sec.2_Non-coding_Transcript	NM_018463	NP_060933	Q969R8	ITFG2_HUMAN	Homo sapiens integrin alpha FG-GAP repeat containing 2 (ITFG2), mRNA.	326										central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			TAGTTGCATGCGCCTGGGATG	0.522000														39			16		0	0	1	0	0
WDR70	55100	broad.mit.edu	37	5	37396660	37396660	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:37396660G>T	uc003jkv.3	+	4	538	c.480G>T	c.(478-480)gaG>gaT	p.E160D	WDR70_uc010iva.1_Missense_Mutation_p.E160D	NM_018034	NP_060504	Q9NW82	WDR70_HUMAN	Homo sapiens WD repeat domain 70 (WDR70), mRNA.	160	Glu-rich.									central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			aagaggaagaggaggaagagg	0.373000														16			4		0.150653	0.152248	1	1	0
KIF3A	11127	broad.mit.edu	37	5	132034985	132034985	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:132034985G>T	uc011cxf.2	-	17	2164	c.2010C>A	c.(2008-2010)ccC>ccA	p.P670P	KIF3A_uc003kxm.3_Silent_p.P225P|KIF3A_uc003kxn.3_Silent_p.P628P|KIF3A_uc003kxo.3_Silent_p.P643P|KIF3A_uc003kxp.3_Silent_p.P646P	NM_007054	NP_008985	Q9Y496	KIF3A_HUMAN	Homo sapiens kinesin family member 3A (KIF3A), mRNA.	643					blood coagulation|organelle organization|plus-end-directed vesicle transport along microtubule	centrosome|cytosol|kinesin II complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|protein binding			endometrium(1)|kidney(4)|large_intestine(8)|lung(3)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	25		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CCACCTCAAAGGGCTAAGTAA	0.403000														71			7		2.0095e-06	2.27092e-06	1	1	0
ZNF676	163223	broad.mit.edu	37	19	22375896	22375896	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:22375896G>A	uc002nqs.1	-	1	370	c.52C>T	c.(52-54)Cca>Tca	p.P18S		NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN	Homo sapiens zinc finger protein 676 (ZNF676), mRNA.	18	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				ATCAGGTCTGGCTTAAAGGCA	0.408000														52			19		0	0	1	0	0
KDM5C	8242	broad.mit.edu	37	X	53222210	53222210	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:53222210G>A	uc004drz.3	-	25	5155	c.4622C>T	c.(4621-4623)tCc>tTc	p.S1541F	KDM5C_uc022bxe.1_Intron|KDM5C_uc004dsa.3_Missense_Mutation_p.S1540F|AY927613_uc004dsb.1_Intron	NM_004187	NP_004178	P41229	KDM5C_HUMAN	Homo sapiens lysine (K)-specific demethylase 5C (KDM5C), transcript variant 1, mRNA.	1541					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						AGTCAGAGTGGAGAAAGGGGC	0.652000			"""N, F, S"""		clear cell renal carcinoma									10			14		0	0	1	0	0
ITGA8	8516	broad.mit.edu	37	10	15726032	15726032	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:15726032G>A	uc001ioc.1	-	3	539	c.539C>T	c.(538-540)gCc>gTc	p.A180V	ITGA8_uc010qcb.1_Missense_Mutation_p.A180V	NM_003638	NP_003629	P53708	ITA8_HUMAN	Homo sapiens integrin, alpha 8 (ITGA8), mRNA.	180					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						CTCGGCATAGGCGCTGAAGTT	0.463000														36			32		0	0	1	0	0
PDIA3P	171423	broad.mit.edu	37	1	146650381	146650381	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:146650381G>A	uc001epg.1	+	0	952	c.689G>A	c.(688-690)gGc>gAc	p.G230D						Homo sapiens protein disulfide isomerase family A, member 3 pseudogene (PDIA3P), non-coding RNA.																		ATGACCAGTGGCAAAATTAAA	0.378000														31			24		0	0	1	0	0
PLK2	10769	broad.mit.edu	37	5	57751594	57751594	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:57751594C>A	uc003jrn.3	-	10	1577	c.1397G>T	c.(1396-1398)aGt>aTt	p.S466I	PLK2_uc021xyx.1_Missense_Mutation_p.S452I	NM_006622	NP_006613	Q9NYY3	PLK2_HUMAN	Homo sapiens polo-like kinase 2 (PLK2), transcript variant 1, mRNA.	466					positive regulation of I-kappaB kinase/NF-kappaB cascade		ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity			endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2)	26		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)		TCCCATGGTACTGTCTTCAAG	0.438000														54			6		3.59834e-05	3.95114e-05	1	1	0
C12orf35	55196	broad.mit.edu	37	12	32135951	32135951	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:32135951G>A	uc001rks.3	+	3	2476	c.2062G>A	c.(2062-2064)Gca>Aca	p.A688T		NM_018169	NP_060639	Q9HCM1	CL035_HUMAN	Homo sapiens chromosome 12 open reading frame 35 (C12orf35), mRNA.	688										NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	59	all_cancers(9;3.36e-11)|all_epithelial(9;2.56e-11)|all_lung(12;5.67e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0114)			TTCAGATACTGCAAAAGAAAA	0.428000														41			5		0	0	1	0	0
RAET1L	154064	broad.mit.edu	37	6	150342236	150342236	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:150342236G>A	uc011eei.2	-	2	497	c.436C>T	c.(436-438)Cag>Tag	p.Q146*		NM_130900	NP_570970	Q5VY80	RET1L_HUMAN	Homo sapiens retinoic acid early transcript 1L (RAET1L), mRNA.	146	MHC class I alpha-2 like (By similarity).				antigen processing and presentation|immune response	MHC class I protein complex|anchored to membrane				endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	5		Ovarian(120;0.028)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.4e-12)		AGGAAGGTCTGTCCATCGATA	0.502000														84			51		0	0	1	0	0
AFF3	3899	broad.mit.edu	37	2	100210419	100210419	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:100210419G>T	uc002taf.3	-	13	1923	c.1779C>A	c.(1777-1779)ccC>ccA	p.P593P	AFF3_uc002tag.3_Silent_p.P568P|AFF3_uc010fiq.1_Silent_p.P568P|AFF3_uc010yvr.1_Silent_p.P721P|AFF3_uc002tah.1_Silent_p.P593P	NM_001025108	NP_001020279	P51826	AFF3_HUMAN	Homo sapiens AF4/FMR2 family, member 3 (AFF3), transcript variant 2, mRNA.	568					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						CGGGCGCACAGGGCACTGCGG	0.751000														29			5		1.23904e-05	1.3743e-05	1	1	0
SCN3A	6328	broad.mit.edu	37	2	165997339	165997339	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:165997339G>A	uc002ucx.3	-	12	2333	c.1841C>T	c.(1840-1842)cCg>cTg	p.P614L	SCN3A_uc002ucy.3_Missense_Mutation_p.P614L|SCN3A_uc002ucz.3_Missense_Mutation_p.P614L|SCN3A_uc002uda.1_Missense_Mutation_p.P483L|SCN3A_uc002udb.1_Missense_Mutation_p.P483L	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	Homo sapiens sodium channel, voltage-gated, type III, alpha subunit (SCN3A), transcript variant 1, mRNA.	614						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	ATGTCTGTGCGGCACAAACAG	0.502000														21			19		0	0	1	0	0
SNRNP200	23020	broad.mit.edu	37	2	96953207	96953207	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:96953207G>A	uc002svu.3	-	25	3586	c.3454C>T	c.(3454-3456)Cgt>Tgt	p.R1152C	SNRNP200_uc002svt.3_5'Flank|SNRNP200_uc010yuj.2_5'Flank|SNRNP200_uc002svv.1_5'Flank	NM_014014	NP_054733	O75643	U520_HUMAN	Homo sapiens small nuclear ribonucleoprotein 200kDa (U5) (SNRNP200), mRNA.	1152	SEC63 1.					U5 snRNP|catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						TCGTACAGACGCTCAAAGGGG	0.512000														88			15		0	0	1	0	0
NISCH	11188	broad.mit.edu	37	3	52522138	52522138	+	Missense_Mutation	SNP	G	A	A	rs150671822		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52522138G>A	uc003ded.4	+	15	2764	c.2630G>A	c.(2629-2631)gGc>gAc	p.G877D	NISCH_uc003dee.4_Missense_Mutation_p.G366D|NISCH_uc003deg.1_Non-coding_Transcript	NM_007184	NP_009115	Q9Y2I1	NISCH_HUMAN	Homo sapiens nischarin (NISCH), mRNA.	877					apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)		GACTACTCAGGCAACATCGAG	0.682000														18			12		0	0	1	0	0
FNIP2	57600	broad.mit.edu	37	4	159791564	159791564	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:159791564C>T	uc003iqe.4	+	13	3075	c.2892C>T	c.(2890-2892)acC>acT	p.T964T		NM_020840	NP_065891	Q9P278	FNIP2_HUMAN	Homo sapiens folliculin interacting protein 2 (FNIP2), mRNA.	964					DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation	cytoplasm	protein binding	p.T964T(1)|p.T290T(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)		TTCATGGGACCGGCAGTGATG	0.562000														21			10		0	0	1	0	0
PHF3	23469	broad.mit.edu	37	6	64395427	64395427	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:64395427G>A	uc003pep.1	+	2	1829	c.1804G>A	c.(1804-1806)Gct>Act	p.A602T	PHF3_uc010kaf.1_Missense_Mutation_p.A602T|PHF3_uc003pem.2_Missense_Mutation_p.A555T|PHF3_uc010kag.1_Missense_Mutation_p.A514T|PHF3_uc010kah.1_Missense_Mutation_p.A416T|PHF3_uc003pen.2_Missense_Mutation_p.A514T|PHF3_uc011dxs.1_Intron|PHF3_uc003peo.3_Missense_Mutation_p.A602T	NM_015153	NP_055968	Q92576	PHF3_HUMAN	Homo sapiens PHD finger protein 3 (PHF3), mRNA.	602					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			TAAGTCACACGCTCATCCTGG	0.408000														28			17		0	0	1	0	0
RAD51AP2	729475	broad.mit.edu	37	2	17698269	17698269	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:17698269C>T	uc002rcl.1	-	0	1438	c.1414G>A	c.(1414-1416)Gct>Act	p.A472T	RAD51AP2_uc010exn.1_Missense_Mutation_p.A463T	NM_001099218	NP_001092688	Q09MP3	R51A2_HUMAN	Homo sapiens RAD51 associated protein 2 (RAD51AP2), mRNA.	472										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GTTATTAAAGCTGTCTGACTA	0.348000														29			3		0	0	1	0	0
VPS26A	9559	broad.mit.edu	37	10	70916787	70916787	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:70916787C>A	uc001jpb.3	+	3	380	c.254C>A	c.(253-255)aCt>aAt	p.T85N	VPS26A_uc001jpc.3_Missense_Mutation_p.T85N|VPS26A_uc009xqa.3_Missense_Mutation_p.T78N|VPS26A_uc001jpd.3_5'UTR	NM_004896	NP_004887	O75436	VP26A_HUMAN	Homo sapiens vacuolar protein sorting 26 homolog A (S. pombe) (VPS26A), transcript variant 1, mRNA.	85					retrograde transport, endosome to Golgi|vacuolar transport	cytosol|endosome membrane|retromer complex|vesicle	protein binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)	8						AAGAGTAATACTCATGAATTT	0.318000														25			10		2.17888e-05	2.40634e-05	1	1	0
SEMA6C	10500	broad.mit.edu	37	1	151108924	151108924	+	Splice_Site	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:151108924C>A	uc001ewv.3	-	12	1442	c.1106_splice	c.e12+1	p.R369_splice	SEMA6C_uc001ewu.3_Splice_Site_p.R369_splice|SEMA6C_uc001eww.3_Splice_Site_p.R329_splice	NM_001178061	NP_001171532	Q9H3T2	SEM6C_HUMAN	Homo sapiens sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C (SEMA6C), transcript variant 1, mRNA.	369	Sema.					integral to membrane	receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			TCCTGGGTACCTGGGTGAGGG	0.562000														268			12		9.05144e-12	1.10939e-11	1	1	0
ATG16L1	55054	broad.mit.edu	37	2	234201945	234201945	+	Missense_Mutation	SNP	C	A	A	rs147191546		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:234201945C>A	uc002vty.3	+	16	1929	c.1672C>A	c.(1672-1674)Ctg>Atg	p.L558M	ATG16L1_uc021vyl.1_Missense_Mutation_p.L442M|ATG16L1_uc002vub.3_Missense_Mutation_p.L416M|ATG16L1_uc002vtz.3_Missense_Mutation_p.L379M|ATG16L1_uc002vud.4_Missense_Mutation_p.L474M|ATG16L1_uc002vua.3_Missense_Mutation_p.L539M|ATG16L1_uc002vtx.2_Missense_Mutation_p.L395M	NM_030803	NP_001177196	Q676U5	A16L1_HUMAN	Homo sapiens ATG16 autophagy related 16-like 1 (S. cerevisiae) (ATG16L1), transcript variant 1, mRNA.	558					autophagic vacuole assembly|protein homooligomerization|protein transport	autophagic vacuole|pre-autophagosomal structure membrane	protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(7)|prostate(3)|skin(1)	25		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0539)		Epithelial(121;1.53e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000379)|LUSC - Lung squamous cell carcinoma(224;0.00619)|Lung(119;0.00732)|GBM - Glioblastoma multiforme(43;0.11)		TGAGGGCTCTCTGTATATCTG	0.517000														47			18		1.96292e-10	2.36921e-10	1	1	0
MAP1B	4131	broad.mit.edu	37	5	71496185	71496185	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:71496185G>A	uc003kbw.4	+	4	7244	c.7003G>A	c.(7003-7005)Gcc>Acc	p.A2335T	MAP1B_uc010iyw.1_Missense_Mutation_p.A2352T|MAP1B_uc010iyx.1_Missense_Mutation_p.A2209T|MAP1B_uc010iyy.1_Missense_Mutation_p.A2209T	NM_005909	NP_005900	P46821	MAP1B_HUMAN	Homo sapiens microtubule-associated protein 1B (MAP1B), mRNA.	2335						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		GGCCAAGACCGCCACTGCAGG	0.507000														65			6		0	0	1	0	0
SMARCA4	6597	broad.mit.edu	37	19	11118620	11118620	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:11118620C>A	uc010dxp.3	+	14	2404	c.2044C>A	c.(2044-2046)Ctg>Atg	p.L682M	SMARCA4_uc010dxo.3_Missense_Mutation_p.L682M|SMARCA4_uc002mqf.4_Missense_Mutation_p.L682M|SMARCA4_uc002mqg.1_Missense_Mutation_p.L682M|SMARCA4_uc010dxq.3_Missense_Mutation_p.L682M|SMARCA4_uc010dxr.3_Missense_Mutation_p.L682M|SMARCA4_uc002mqj.4_Missense_Mutation_p.L682M|SMARCA4_uc010dxs.3_Missense_Mutation_p.L682M	NM_001128844	NP_003063	P51532	SMCA4_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 (SMARCA4), transcript variant 2, mRNA.	682					chromatin remodeling|negative regulation of S phase of mitotic cell cycle|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex|WINAC complex|nBAF complex|npBAF complex|nuclear chromatin	ATP binding|DNA binding|DNA-dependent ATPase activity|androgen receptor binding|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				GCCTCCCACCCTGCCCGTGGA	0.607000			"""F, N, Mis"""		NSCLC									24			3		1	1	1	1	0
TRMU	55687	broad.mit.edu	37	22	46733779	46733779	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:46733779G>T	uc003bhp.3	+	1	550	c.186G>T	c.(184-186)caG>caT	p.Q62H	TRMU_uc011arb.1_Missense_Mutation_p.Q62H|TRMU_uc003bhq.3_5'UTR|TRMU_uc003bhs.3_Missense_Mutation_p.Q62H|TRMU_uc003bhr.3_5'UTR|TRMU_uc003bht.3_5'UTR|TRMU_uc003bhu.3_5'UTR|TRMU_uc003bhv.3_5'UTR	NM_018006	NP_060476	O75648	MTU1_HUMAN	Homo sapiens tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase (TRMU), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	62						mitochondrion	ATP binding|sulfurtransferase activity|tRNA (5-methylaminomethyl-2-thiouridylate)-methyltransferase activity|tRNA binding			NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)	10		Ovarian(80;0.00965)|Breast(42;0.0194)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00449)|LUAD - Lung adenocarcinoma(64;0.248)		GAGTTTGCCAGATCTTAGACA	0.478000														95			9		0.000442599	0.000473562	1	1	0
VPRBP	9730	broad.mit.edu	37	3	51458450	51458450	+	Splice_Site	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:51458450A>G	uc003dbe.2	-	14	1999	c.1814_splice	c.e14-1	p.G605_splice	VPRBP_uc021wys.1_Splice_Site_p.G604_splice|VPRBP_uc003dbf.1_Splice_Site	NM_014703	NP_055518	Q9Y4B6	VPRBP_HUMAN	Homo sapiens Vpr (HIV-1) binding protein (VPRBP), transcript variant 1, mRNA.	658					interspecies interaction between organisms	cytoplasm|nucleus	protein binding			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		TAATGCTGATACCTAATGGGA	0.368000														68			29		0	0	1	0	0
HBA2	3040	broad.mit.edu	37	16	223532	223532	+	Missense_Mutation	SNP	C	T	T	rs36075744		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:223532C>T	uc002cfv.4	+	2	428	c.362C>T	c.(361-363)gCg>gTg	p.A121V		NM_000517	NP_000549	P69905	HBA_HUMAN	Homo sapiens hemoglobin, alpha 2 (HBA2), mRNA.	121			A -> E (in J-Meerut/J-Birmingham).		hydrogen peroxide catabolic process|positive regulation of cell death|protein heterooligomerization	cytosolic small ribosomal subunit|haptoglobin-hemoglobin complex|hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity|protein binding						all_cancers(16;2.03e-06)|all_epithelial(16;5.16e-06)|Hepatocellular(16;0.000325)|Lung NSC(18;0.0138)|all_lung(18;0.0306)			Amodiaquine(DB00613)|Chloroquine(DB00608)|Iron Dextran(DB00893)|Mefloquine(DB00358)|Primaquine(DB01087)|Quinine(DB00468)	TTCACCCCTGCGGTGCACGCC	0.662000											OREG0003686	type=REGULATORY REGION|Gene=SERPINB9|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		22			4		0	0	1	0	0
ODC1	4953	broad.mit.edu	37	2	10582301	10582301	+	Splice_Site	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:10582301C>A	uc010exg.1	-	9	1185	c.751_splice	c.e9-1	p.I251_splice	ODC1_uc002rao.1_Splice_Site_p.I251_splice|ODC1_uc010yjd.1_Splice_Site_p.I121_splice	NM_002539	NP_002530	P11926	DCOR_HUMAN	Homo sapiens ornithine decarboxylase 1 (ODC1), mRNA.	251					polyamine biosynthetic process|regulation of cellular amino acid metabolic process|response to virus	cytosol	ornithine decarboxylase activity|protein binding			NS(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(3)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.161)	Pyridoxal Phosphate(DB00114)|Spermine(DB00127)	CGCCGGTGATCTAAGAGAGTG	0.473000														42			7		0.0477658	0.0485825	1	1	0
SERPINB2	5055	broad.mit.edu	37	18	61597398	61597398	+	Nonsense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:61597398G>T	uc010xev.2	+	5	700	c.610G>T	c.(610-612)Gaa>Taa	p.E204*	SERPINB2_uc010xew.2_Nonsense_Mutation_p.E204*	NM_005024	NP_005015	P05120	PAI2_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 10 (SERPINB10), mRNA.	219					anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	Golgi apparatus|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	AAACACCACAGAAAAGCCTTT	0.373000														102			12		5.50884e-06	6.15991e-06	1	1	0
PLP1	5354	broad.mit.edu	37	X	103040568	103040568	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:103040568C>T	uc010nov.3	+	2	342	c.62C>T	c.(61-63)gCc>gTc	p.A21V	RAB9B_uc004eli.2_Intron|PLP1_uc004elk.3_Missense_Mutation_p.A21V|PLP1_uc004elj.3_Missense_Mutation_p.A21V|PLP1_uc011msf.2_Intron|PLP1_uc010now.1_Missense_Mutation_p.A25V|PLP1_uc010nox.3_5'Flank	NM_001128834	NP_001122306	P60201	MYPR_HUMAN	Homo sapiens proteolipid protein 1 (PLP1), transcript variant 3, mRNA.	21					cell death|synaptic transmission	integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	17						TCCCTGGTGGCCACTGGATTG	0.517000														129			89		0	0	1	0	0
DDI1	414301	broad.mit.edu	37	11	103907867	103907867	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:103907867G>A	uc001phr.2	+	0	560	c.317G>A	c.(316-318)aGc>aAc	p.S106N	PDGFD_uc001php.3_Intron|PDGFD_uc001phq.3_Intron	NM_001001711	NP_001001711	Q8WTU0	DDI1_HUMAN	Homo sapiens DNA-damage inducible 1 homolog 1 (S. cerevisiae) (DDI1), mRNA.	106					proteolysis		aspartic-type endopeptidase activity			central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		GGGACGTCCAGCTCCCGTCCA	0.652000														97			10		0	0	1	0	0
ROBO2	6092	broad.mit.edu	37	3	77614262	77614262	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:77614262C>T	uc011bgk.2	+	12	2495	c.1852C>T	c.(1852-1854)Cgc>Tgc	p.R618C	ROBO2_uc021xat.1_Missense_Mutation_p.R630C|ROBO2_uc003dpy.4_Missense_Mutation_p.R614C|ROBO2_uc003dpz.3_Missense_Mutation_p.R618C|ROBO2_uc011bgj.2_Non-coding_Transcript	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 2 (Drosophila) (ROBO2), transcript variant 2, mRNA.	614					apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		AGATCCTGTGCGCACACAAGG	0.468000														40			31		0	0	1	0	0
CLASP1	23332	broad.mit.edu	37	2	122125203	122125203	+	Nonsense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:122125203C>A	uc002tnc.3	-	33	4234	c.3844G>T	c.(3844-3846)Gag>Tag	p.E1282*	CLASP1_uc010yyv.2_Nonsense_Mutation_p.E329*|CLASP1_uc002tmz.3_Nonsense_Mutation_p.E368*|CLASP1_uc002tna.3_Nonsense_Mutation_p.E329*|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_Nonsense_Mutation_p.E1223*|CLASP1_uc010yza.2_Nonsense_Mutation_p.E1215*|CLASP1_uc021vnl.1_Nonsense_Mutation_p.E1221*|CLASP1_uc010yzc.2_Non-coding_Transcript|CLASP1_uc002tmy.3_Nonsense_Mutation_p.E119*|CLASP1_uc002tnf.3_Nonsense_Mutation_p.E185*	NM_015282	NP_056097	Q7Z460	CLAP1_HUMAN	Homo sapiens cytoplasmic linker associated protein 1 (CLASP1), transcript variant 1, mRNA.	1283	Interaction with CLIP2 (By similarity).|Interaction with PHLDB2 and RSN.|Localization to kinetochores.				G2/M transition of mitotic cell cycle|axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	Golgi apparatus|centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|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)					AACACAGCCTCTTTCAGGGCG	0.607000														40			28		1.50538e-07	1.73825e-07	1	1	0
TBL3	10607	broad.mit.edu	37	16	2026095	2026095	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:2026095C>T	uc002cnu.1	+	11	1270	c.1168C>T	c.(1168-1170)Ctc>Ttc	p.L390F	TCRBV20S1_uc021tak.1_Intron|TBL3_uc002cnv.1_Missense_Mutation_p.L276F|TBL3_uc010bsc.1_Missense_Mutation_p.L276F|TBL3_uc010uvt.1_5'UTR|TBL3_uc002cnw.1_5'Flank	NM_006453	NP_006444	Q12788	TBL3_HUMAN	Homo sapiens transducin (beta)-like 3 (TBL3), mRNA.	390					G-protein signaling, coupled to cGMP nucleotide second messenger|rRNA processing	nucleolus|small-subunit processome	receptor signaling protein activity			breast(1)|endometrium(2)|kidney(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	18						GAAGGGGTGGCTCTTTGCCAG	0.627000														70			36		0	0	1	0	0
TRPM1	4308	broad.mit.edu	37	15	31334251	31334251	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:31334251C>T	uc021sia.1	-	15	2355	c.2041G>A	c.(2041-2043)Gcc>Acc	p.A681T	TRPM1_uc010azy.3_Missense_Mutation_p.A549T|TRPM1_uc001zfl.3_Non-coding_Transcript|TRPM1_uc021shz.1_Missense_Mutation_p.A664T|TRPM1_uc001zfm.3_Missense_Mutation_p.A642T	NM_001252020	NP_001238949	Q7Z4N2	TRPM1_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 1 (TRPM1), transcript variant 1, mRNA.	642					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		GCCACCAGGGCCTTGGCCATG	0.562000														29			18		0	0	1	0	0
CCDC130	81576	broad.mit.edu	37	19	13865139	13865139	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:13865139G>T	uc002mxc.1	+	2	257	c.40G>T	c.(40-42)Gac>Tac	p.D14Y	CCDC130_uc010xnf.2_Missense_Mutation_p.D14Y	NM_030818	NP_110445	P13994	CC130_HUMAN	Homo sapiens coiled-coil domain containing 130 (CCDC130), mRNA.	14					response to virus		protein binding			endometrium(2)|kidney(1)|large_intestine(3)|ovary(1)|skin(2)|urinary_tract(1)	10			OV - Ovarian serous cystadenocarcinoma(19;6.02e-23)|Epithelial(5;2.58e-18)			CTATCCTCCAGACTTCAACCC	0.532000														54			7		1.12685e-05	1.25391e-05	1	1	0
ATAD1	84896	broad.mit.edu	37	10	89544250	89544250	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:89544250G>A	uc001kez.1	-	4	939	c.560C>T	c.(559-561)tCc>tTc	p.S187F	ATAD1_uc010qmr.1_Missense_Mutation_p.S129F|ATAD1_uc009xth.1_Non-coding_Transcript|ATAD1_uc001key.1_Missense_Mutation_p.S187F	NM_032810	NP_116199	Q8NBU5	ATAD1_HUMAN	Homo sapiens ATPase family, AAA domain containing 1 (ATAD1), mRNA.	187						peroxisome	ATP binding|nucleoside-triphosphatase activity			kidney(1)|large_intestine(4)|lung(4)|ovary(1)	10		all_cancers(4;6.78e-12)|Prostate(4;3.56e-12)|all_epithelial(4;5.58e-09)|Melanoma(5;0.0273)|Breast(4;0.0424)|all_hematologic(4;0.0846)|Colorectal(252;0.207)|Glioma(4;0.217)|all_neural(4;0.224)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00131)|GBM - Glioblastoma multiforme(1;1.1e-32)|Lung(2;1.4e-05)|LUSC - Lung squamous cell carcinoma(2;2.69e-05)|Colorectal(12;7.09e-05)|COAD - Colon adenocarcinoma(12;0.000261)|STAD - Stomach adenocarcinoma(243;0.235)		AAAGATGATGGATGGTTGTAG	0.348000														58			39		0	0	1	0	0
TET1	80312	broad.mit.edu	37	10	70333561	70333561	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:70333561C>A	uc001jok.4	+	1	1971	c.1466C>A	c.(1465-1467)cCt>cAt	p.P489H		NM_030625	NP_085128	Q8NFU7	TET1_HUMAN	Homo sapiens tet methylcytosine dioxygenase 1 (TET1), mRNA.	489					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						AATTCATTACCTCCAGTAATG	0.448000														46			6		5.18039e-06	5.80246e-06	1	1	0
DST	667	broad.mit.edu	37	6	56506847	56506847	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:56506847G>A	uc003pcy.4	-	2	422	c.314C>T	c.(313-315)gCt>gTt	p.A105V	DST_uc021zay.1_Missense_Mutation_p.A471V|DST_uc011dxl.1_Missense_Mutation_p.A460V|DST_uc021zaz.1_Missense_Mutation_p.A431V|DST_uc021zax.1_Missense_Mutation_p.A105V|DST_uc003pdc.4_Missense_Mutation_p.A105V|DST_uc003pdd.4_Missense_Mutation_p.A105V|DST_uc003pde.2_Missense_Mutation_p.A547V	NM_015548	NP_056363	Q03001	DYST_HUMAN	Homo sapiens dystonin (DST), transcript variant 1eA, mRNA.	431	Actin-binding.|CH 1.				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	Z disc|actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein C-terminus binding|protein binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TATATACCCAGCAATTTCTGC	0.338000														33			19		0	0	1	0	0
MYH10	4628	broad.mit.edu	37	17	8415869	8415869	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:8415869A>G	uc002glm.3	-	23	2948	c.2852T>C	c.(2851-2853)tTa>tCa	p.L951S	MYH10_uc002gll.3_Missense_Mutation_p.L920S|MYH10_uc010cnx.3_Missense_Mutation_p.L929S	NM_005964	NP_005955	P35580	MYH10_HUMAN	Homo sapiens myosin, heavy chain 10, non-muscle (MYH10), transcript variant 2, mRNA.	920					actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	ADP binding|ATP binding|actin filament binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						AATCTCTTCTAATTCCTGCTT	0.393000														39			26		0	0	1	0	0
UNC5CL	222643	broad.mit.edu	37	6	40998181	40998181	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:40998181C>T	uc003opi.3	-	7	1379	c.1280G>A	c.(1279-1281)gGc>gAc	p.G427D		NM_173561	NP_775832	Q8IV45	UN5CL_HUMAN	Homo sapiens unc-5 homolog C (C. elegans)-like (UNC5CL), mRNA.	427	Death.				signal transduction	cytoplasm|integral to membrane				endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					CCAGTCATTGCCGGTGATGCT	0.577000														24			15		0	0	1	0	0
PPAT	5471	broad.mit.edu	37	4	57261676	57261676	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:57261676C>T	uc003hbr.3	-	10	1555	c.1396G>A	c.(1396-1398)Gtt>Att	p.V466I		NM_002703	NP_002694	Q06203	PUR1_HUMAN	Homo sapiens phosphoribosyl pyrophosphate amidotransferase (PPAT), mRNA.	466					glutamine metabolic process|nucleoside metabolic process|purine base biosynthetic process|purine ribonucleoside monophosphate biosynthetic process	cytosol	4 iron, 4 sulfur cluster binding|amidophosphoribosyltransferase activity|metal ion binding			cervix(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	20	Glioma(25;0.08)|all_neural(26;0.101)				L-Glutamine(DB00130)|Thioguanine(DB00352)	ACAGATGAAACCAGTCCTTCT	0.333000														13			10		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179427755	179427755	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179427755G>A	uc021vsy.1	-	274	75625	c.75400C>T	c.(75400-75402)Cga>Tga	p.R25134*	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Nonsense_Mutation_p.R18829*|TTN_uc021vta.1_Nonsense_Mutation_p.R18762*|TTN_uc021vtb.1_Nonsense_Mutation_p.R18637*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	26061	Fibronectin type-III 82.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R18762*(1)|p.R25132*(1)|p.R18637*(1)|p.R18829*(1)		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)			GGTTCTGGTCGACCTTTGATA	0.453000														85			69		0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39851175	39851175	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:39851175C>A	uc021olw.1	+	20	9238	c.9238C>A	c.(9238-9240)Cta>Ata	p.L3080I	MACF1_uc021ols.1_Missense_Mutation_p.L2578I|MACF1_uc001cdc.2_Missense_Mutation_p.L2557I|MACF1_uc021olt.1_Missense_Mutation_p.L2578I|MACF1_uc001cda.1_Missense_Mutation_p.L2465I	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	4645					Golgi to plasma membrane protein transport|Wnt receptor signaling pathway|cell cycle arrest|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|wound healing	Golgi apparatus|microtubule|ruffle membrane	ATPase activity|actin filament binding|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TCAGGGCATCCTAACAGGCCC	0.458000														22			10		0.0581538	0.0591027	1	1	0
EHMT1	79813	broad.mit.edu	37	9	140611261	140611261	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:140611261G>A	uc011mfc.2	+	2	306	c.269G>A	c.(268-270)cGg>cAg	p.R90Q	EHMT1_uc004coa.3_Missense_Mutation_p.R90Q|EHMT1_uc004cob.1_Missense_Mutation_p.R59Q	NM_024757	NP_079033	Q9H9B1	EHMT1_HUMAN	Homo sapiens euchromatic histone-lysine N-methyltransferase 1 (EHMT1), transcript variant 1, mRNA.	90					DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		ACACTAACTCGGATAGCGGAA	0.527000														52			28		0	0	1	0	0
ARID5A	10865	broad.mit.edu	37	2	97217973	97217973	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:97217973G>A	uc002swe.3	+	6	1808	c.1708G>A	c.(1708-1710)Gcc>Acc	p.A570T	ARID5A_uc010yuq.2_Missense_Mutation_p.A518T|ARID5A_uc002swf.3_Missense_Mutation_p.A406T|ARID5A_uc002swg.3_Missense_Mutation_p.A518T	NM_212481	NP_997646	Q03989	ARI5A_HUMAN	Homo sapiens AT rich interactive domain 5A (MRF1-like) (ARID5A), mRNA.	570					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(2)	14						ACTTTGCCCGGCCTCATCTGC	0.637000														37			24		0	0	1	0	0
NPHP3	27031	broad.mit.edu	37	3	132361638	132361638	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:132361638T>G	uc003eov.4	-	2	638	c.258A>C	c.(256-258)agA>agC	p.R86S		NM_032169	NP_115545	Q7Z494	NPHP3_HUMAN	Homo sapiens acyl-CoA dehydrogenase family, member 11 (ACAD11), mRNA.	506					Wnt receptor signaling pathway|maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway	cilium	protein binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CTTTAAATTCTCTATCAATCT	0.318000														67			10		0	0	1	0	0
CEP57	9702	broad.mit.edu	37	11	95564323	95564323	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:95564323G>T	uc001pfp.2	+	10	1644	c.1406G>T	c.(1405-1407)aGa>aTa	p.R469I	CEP57_uc009ywn.2_Missense_Mutation_p.R317I|CEP57_uc010ruh.2_Missense_Mutation_p.R460I|CEP57_uc001pfq.2_Missense_Mutation_p.R443I|CEP57_uc001pfr.2_Missense_Mutation_p.R317I	NM_014679	NP_055494	Q86XR8	CEP57_HUMAN	Homo sapiens centrosomal protein 57kDa (CEP57), transcript variant 1, mRNA.	469	Mediates interaction with microtubules (By similarity).				G2/M transition of mitotic cell cycle|fibroblast growth factor receptor signaling pathway|protein import into nucleus, translocation|spermatid development	Golgi apparatus|centrosome|cytosol|microtubule|nucleus	fibroblast growth factor binding|protein homodimerization activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	13		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				ATGAAACTGAGACCTGGAGAA	0.368000									Mosaic Variegated Aneuploidy Syndrome					46			6		2.0095e-06	2.27092e-06	1	1	0
PCDHB4	56131	broad.mit.edu	37	5	140501652	140501652	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140501652G>T	uc003lip.1	+	0	72	c.72G>T	c.(70-72)caG>caT	p.Q24H		NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	Homo sapiens protocadherin beta 4 (PCDHB4), mRNA.	24					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCTTGTCTCAGGTTCGCCTCG	0.498000														31			12		0.00185496	0.0019572	1	1	0
PTCHD4	442213	broad.mit.edu	37	6	47976442	47976442	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:47976442C>T	uc011dwm.2	-	1	869	c.835G>A	c.(835-837)Gca>Aca	p.A279T	PTCHD4_uc011dwn.2_Missense_Mutation_p.A26T|PTCHD4_uc003ozf.2_Missense_Mutation_p.A279T	NM_001013732	NP_001013754	Q6ZW05	CF138_HUMAN	Homo sapiens chromosome 6 open reading frame 138 (C6orf138), transcript variant 1, mRNA.	279	SSD.					integral to membrane	hedgehog receptor activity										ATCCCTGCTGCTGTGATGATG	0.552000														17			7		0	0	1	0	0
C2orf16	84226	broad.mit.edu	37	2	27801251	27801251	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:27801251G>T	uc002rkz.4	+	0	1863	c.1812G>T	c.(1810-1812)gaG>gaT	p.E604D		NM_032266	NP_115642	Q68DN1	CB016_HUMAN	Homo sapiens chromosome 2 open reading frame 16 (C2orf16), mRNA.	604										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					TAAAATCTGAGGAGTTAGCAC	0.413000														28			19		6.49762e-13	8.04122e-13	1	1	0
FZD1	8321	broad.mit.edu	37	7	90896036	90896036	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:90896036G>A	uc003ula.3	+	0	2254	c.1841G>A	c.(1840-1842)gGc>gAc	p.G614D		NM_003505	NP_003496	Q9UP38	FZD1_HUMAN	Homo sapiens frizzled family receptor 1 (FZD1), mRNA.	614					G-protein signaling, coupled to cGMP nucleotide second messenger|Wnt receptor signaling pathway, calcium modulating pathway|autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development	apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding|receptor binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			CTGATCGTGGGCATCACGTCG	0.607000														32			38		0	0	1	0	0
TMED1	11018	broad.mit.edu	37	19	10943688	10943688	+	Missense_Mutation	SNP	G	A	A	rs139213045	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10943688G>A	uc002mpy.3	-	3	783	c.667C>T	c.(667-669)Cgc>Tgc	p.R223C	DNM2_uc002mpx.1_3'UTR	NM_006858	NP_006849	Q13445	TMED1_HUMAN	Homo sapiens transmembrane emp24 protein transport domain containing 1 (TMED1), mRNA.	223					cell-cell signaling|signal transduction|transport	integral to membrane|plasma membrane	receptor binding			breast(1)|central_nervous_system(2)|lung(2)|ovary(3)|prostate(1)|skin(1)	10						GGCACCGGGCGCTTGTCCTGG	0.612000														28			13		0	0	1	0	0
PRKCQ	5588	broad.mit.edu	37	10	6549437	6549437	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:6549437G>A	uc001iji.1	-	2	523	c.439C>T	c.(439-441)Cga>Tga	p.R147*	PRKCQ_uc001ijj.2_Nonsense_Mutation_p.R114*|PRKCQ_uc009xim.2_Nonsense_Mutation_p.R114*|PRKCQ_uc009xin.2_Nonsense_Mutation_p.R78*|PRKCQ_uc010qax.2_Intron	NM_006257	NP_006248	Q04759	KPCT_HUMAN	Homo sapiens protein kinase C, theta (PRKCQ), transcript variant 1, mRNA.	114					T cell receptor signaling pathway|axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						ATTAGCATTCGGCCTTGAGGT	0.468000														110			65		0	0	1	0	0
POLE	5426	broad.mit.edu	37	12	133201324	133201324	+	Missense_Mutation	SNP	G	T	T	rs148788180	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:133201324G>T	uc001uks.1	-	48	6864	c.6820C>A	c.(6820-6822)Ctg>Atg	p.L2274M	POLE_uc001ukq.1_Missense_Mutation_p.L484M|POLE_uc001ukr.1_Missense_Mutation_p.L1078M|POLE_uc010tbq.1_Non-coding_Transcript	NM_006231	NP_006222	Q07864	DPOE1_HUMAN	Homo sapiens polymerase (DNA directed), epsilon (POLE), mRNA.	2274					DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity|chromatin binding|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		AGCCACTCCAGGGTCTCCAGG	0.607000								DNA polymerases (catalytic subunits)						57			6		1.06961e-07	1.2399e-07	1	1	0
ARHGAP20	57569	broad.mit.edu	37	11	110462832	110462832	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:110462832C>T	uc001pkz.1	-	10	1297	c.1012G>A	c.(1012-1014)Gcc>Acc	p.A338T	ARHGAP20_uc001pky.1_Missense_Mutation_p.A315T|ARHGAP20_uc009yyb.1_Missense_Mutation_p.A302T|ARHGAP20_uc001pla.1_Missense_Mutation_p.A302T|ARHGAP20_uc001plb.2_5'Flank	NM_020809	NP_065860	Q9P2F6	RHG20_HUMAN	Homo sapiens Rho GTPase activating protein 20 (ARHGAP20), mRNA.	338					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		CGCCAGAAGGCCCAGTTTATG	0.403000														90			30		0	0	1	0	0
RAB32	10981	broad.mit.edu	37	6	146865220	146865220	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:146865220C>T	uc003qln.1	+	0	393	c.213C>T	c.(211-213)agC>agT	p.S71S		NM_006834	NP_006825	Q13637	RAB32_HUMAN	Homo sapiens RAB32, member RAS oncogene family (RAB32), mRNA.	71					protein transport|small GTPase mediated signal transduction	mitochondrion	GTP binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	8		Ovarian(120;0.142)		OV - Ovarian serous cystadenocarcinoma(155;2.68e-09)|GBM - Glioblastoma multiforme(68;0.00608)		ACTGGGACAGCAGGACTCTGG	0.657000														17			4		0	0	1	0	0
NAA15	80155	broad.mit.edu	37	4	140275240	140275240	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:140275240T>C	uc003ihu.1	+	9	1331	c.1075T>C	c.(1075-1077)Ttt>Ctt	p.F359L		NM_057175	NP_476516	Q9BXJ9	NAA15_HUMAN	Homo sapiens N(alpha)-acetyltransferase 15, NatA auxiliary subunit (NAA15), mRNA.	359					N-terminal protein amino acid acetylation|angiogenesis|cell differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	protein binding			NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						CTGCCGGTTATTTAACCCCAA	0.308000														93			11		0	0	1	0	0
RNH1	6050	broad.mit.edu	37	11	499119	499119	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:499119C>T	uc001lpk.1	-	3	1918	c.510G>A	c.(508-510)ccG>ccA	p.P170P	RNH1_uc001lpl.1_Silent_p.P170P|RNH1_uc001lpm.1_Silent_p.P170P|RNH1_uc001lpn.1_Silent_p.P170P|RNH1_uc001lpo.1_Silent_p.P170P|RNH1_uc001lpp.2_Silent_p.P170P|RNH1_uc001lpq.2_Silent_p.P170P|RNH1_uc001lpr.2_Silent_p.P170P|RNH1_uc001lps.2_Silent_p.P170P	NM_203389	NP_976323	P13489	RINI_HUMAN	Homo sapiens ribonuclease/angiogenin inhibitor 1 (RNH1), transcript variant 8, mRNA.	170			P -> L (in dbSNP:rs17585).		mRNA catabolic process|regulation of angiogenesis	angiogenin-PRI complex|cytoplasm	protein binding|ribonuclease inhibitor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.26e-26)|Epithelial(43;1.34e-25)|OV - Ovarian serous cystadenocarcinoma(40;5.31e-20)|BRCA - Breast invasive adenocarcinoma(625;8.01e-05)|Lung(200;0.0378)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCTTGAAGTCCGGCTTGGCCC	0.647000														27			8		0	0	1	0	0
DIP2A	23181	broad.mit.edu	37	21	47969687	47969687	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:47969687C>T	uc002zjo.2	+	21	2709	c.2526C>T	c.(2524-2526)atC>atT	p.I842I	DIP2A_uc011afy.1_Silent_p.I778I|DIP2A_uc011afz.1_Silent_p.I838I|DIP2A_uc002zjn.3_Silent_p.I842I	NM_015151	NP_055966	Q14689	DIP2A_HUMAN	Homo sapiens DIP2 disco-interacting protein 2 homolog A (Drosophila) (DIP2A), transcript variant 1, mRNA.	842					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		CCCGCAGGATCGCTGTGTTCT	0.587000														72			30		0	0	1	0	0
SLC2A13	114134	broad.mit.edu	37	12	40158579	40158579	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:40158579T>C	uc010skm.2	-	7	1578	c.1527A>G	c.(1525-1527)gcA>gcG	p.A509A	C12orf40_uc009zjv.1_Non-coding_Transcript	NM_052885	NP_443117	Q96QE2	MYCT_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 13 (SLC2A13), mRNA.	509						integral to membrane|plasma membrane	myo-inositol:hydrogen symporter activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	29		Lung NSC(34;0.105)|all_lung(34;0.123)				GGCCCAGAAGTGCAGTCCAGG	0.348000										HNSCC(50;0.14)				59			10		0	0	1	0	0
FAT1	2195	broad.mit.edu	37	4	187557909	187557909	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:187557909G>A	uc003izf.3	-	4	3990	c.3802C>T	c.(3802-3804)Cgg>Tgg	p.R1268W		NM_005245	NP_005236	Q14517	FAT1_HUMAN	Homo sapiens FAT tumor suppressor homolog 1 (Drosophila) (FAT1), mRNA.	1268	Cadherin 11.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						AGCGGCTCCCGTCTGGCATTT	0.473000										HNSCC(5;0.00058)				119			88		0	0	1	0	0
DPYSL4	10570	broad.mit.edu	37	10	134015524	134015524	+	Nonsense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:134015524C>A	uc009ybb.3	+	10	1339	c.1185C>A	c.(1183-1185)taC>taA	p.Y395*		NM_006426	NP_006417	O14531	DPYL4_HUMAN	Homo sapiens dihydropyrimidinase-like 4 (DPYSL4), mRNA.	395					axon guidance|pyrimidine base catabolic process	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)		TCAATTTTTACCCAAGGAAGG	0.532000														67			5		0.0381472	0.0388409	1	1	0
CEP250	11190	broad.mit.edu	37	20	34091114	34091114	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:34091114C>T	uc021wco.1	+	29	5564	c.4917C>T	c.(4915-4917)atC>atT	p.I1639I	CEP250_uc010zve.2_Silent_p.I1007I	NM_007186	NP_009117	Q9BV73	CP250_HUMAN	Homo sapiens centrosomal protein 250kDa (CEP250), mRNA.	1639	Gln/Glu-rich.				G2/M transition of mitotic cell cycle|centriole-centriole cohesion|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			GAGAACAGATCGAGGAGCTGC	0.562000														31			32		0	0	1	0	0
METTL16	79066	broad.mit.edu	37	17	2323636	2323636	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:2323636G>A	uc002fut.3	-	9	1465	c.1317C>T	c.(1315-1317)ggC>ggT	p.G439G	METTL16_uc010cka.3_Non-coding_Transcript|METTL16_uc002fuu.4_Non-coding_Transcript|METTL16_uc002fuv.3_Intron|METTL16_uc010vqx.1_Non-coding_Transcript|METTL16_uc010vqy.1_Silent_p.G221G	NM_024086	NP_076991	Q86W50	MET16_HUMAN	Homo sapiens methyltransferase like 16 (METTL16), mRNA.	439							methyltransferase activity			kidney(2)|large_intestine(9)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	19						CGGCAGCCTCGCCTTCCCGCA	0.642000														63			37		0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	176833575	176833575	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:176833575G>A	uc001glc.3	-	22	3942	c.3730C>T	c.(3730-3732)Cgg>Tgg	p.R1244W	ASTN1_uc001glb.1_Intron	NM_004319	NP_004310	O14525	ASTN1_HUMAN	Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA.	1252					cell migration|neuron cell-cell adhesion	integral to membrane		p.R1244W(2)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GAGCTGCGCCGCAAGCTTATC	0.567000														29			27		0	0	1	0	0
LAMC1	3915	broad.mit.edu	37	1	183096535	183096535	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:183096535A>G	uc001gpy.4	+	16	3376	c.3119A>G	c.(3118-3120)gAt>gGt	p.D1040G		NM_002293	NP_002284	P11047	LAMC1_HUMAN	Homo sapiens laminin, gamma 1 (formerly LAMB2) (LAMC1), mRNA.	1040	Domain II and I.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTGGTAAAGGATAAGGTAAGC	0.443000														21			23		0	0	1	0	0
ATP2A3	489	broad.mit.edu	37	17	3844865	3844865	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:3844865C>T	uc002fwy.2	-	12	1802	c.1629G>A	c.(1627-1629)gaG>gaA	p.E543E	ATP2A3_uc002fwz.2_Silent_p.E543E|ATP2A3_uc002fxa.2_Silent_p.E543E|ATP2A3_uc002fxb.2_Silent_p.E543E|ATP2A3_uc002fxc.2_Silent_p.E543E|ATP2A3_uc002fxd.2_Silent_p.E543E|ATP2A3_uc002fwx.2_Silent_p.E543E	NM_174953	NP_777613	Q93084	AT2A3_HUMAN	Homo sapiens ATPase, Ca++ transporting, ubiquitous (ATP2A3), transcript variant 5, mRNA.	543					ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		CCAGGATCTGCTCCCTGGAGG	0.682000														38			26		0	0	1	0	0
RB1CC1	9821	broad.mit.edu	37	8	53570292	53570292	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:53570292C>T	uc003xre.4	-	14	2655	c.2097G>A	c.(2095-2097)acG>acA	p.T699T	RB1CC1_uc003xrf.4_Silent_p.T699T	NM_014781	NP_055596	Q8TDY2	RBCC1_HUMAN	Homo sapiens RB1-inducible coiled-coil 1 (RB1CC1), transcript variant 1, mRNA.	699					autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ULK1-ATG13-FIP200 complex|cytosol|nucleus|pre-autophagosomal structure	protein binding			NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				CAAAATCAAACGTATGTGCAT	0.398000														97			6		0	0	1	0	0
CACNB2	783	broad.mit.edu	37	10	18828539	18828539	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:18828539G>T	uc001ipr.2	+	13	1929	c.1869G>T	c.(1867-1869)aaG>aaT	p.K623N	CACNB2_uc001ipt.2_Missense_Mutation_p.K585N|CACNB2_uc009xjz.1_Missense_Mutation_p.K373N|CACNB2_uc001ips.2_Missense_Mutation_p.K599N|CACNB2_uc001ipu.3_Missense_Mutation_p.K595N|CACNB2_uc001ipv.3_Missense_Mutation_p.K571N|CACNB2_uc009xka.2_Missense_Mutation_p.K557N|CACNB2_uc001ipw.2_Missense_Mutation_p.K530N|CACNB2_uc001ipx.2_Missense_Mutation_p.K568N|CACNB2_uc001ipz.2_Missense_Mutation_p.K545N|CACNB2_uc001ipy.2_Missense_Mutation_p.K569N|CACNB2_uc010qco.1_Missense_Mutation_p.K537N|CACNB2_uc001iqa.2_Missense_Mutation_p.K575N|NSUN6_uc001iqb.3_Intron	NM_201596	NP_963890	Q08289	CACB2_HUMAN	Homo sapiens calcium channel, voltage-dependent, beta 2 subunit (CACNB2), transcript variant 2, mRNA.	623					axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	AGTGCAACAAGCAGCGCAGCC	0.547000														32			22		3.73194e-20	4.81397e-20	1	1	0
SRMS	6725	broad.mit.edu	37	20	62172560	62172560	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:62172560G>T	uc002yfi.1	-	6	1310	c.1269C>A	c.(1267-1269)ggC>ggA	p.G423G		NM_080823	NP_543013	Q9H3Y6	SRMS_HUMAN	Homo sapiens src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites (SRMS), mRNA.	423	Protein kinase.						ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1)	19	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			AGGGACACTGGCCATAGGTGA	0.627000														27			22		6.33239e-15	7.95586e-15	1	1	0
PTCD3	55037	broad.mit.edu	37	2	86364603	86364603	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:86364603G>T	uc002sqw.2	+	23	2057	c.1991G>T	c.(1990-1992)aGt>aTt	p.S664I	PTCD3_uc002sqx.1_Missense_Mutation_p.S254I	NM_017952	NP_060422	Q96EY7	PTCD3_HUMAN	Homo sapiens Pentatricopeptide repeat domain 3 (PTCD3), nuclear gene encoding mitochondrial protein, mRNA.	664						mitochondrion	protein binding			NS(1)|breast(2)|endometrium(3)|kidney(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	22						GAAGCCCTAAGTAATCTAACT	0.478000														19			11		6.42651e-13	7.96182e-13	1	1	0
NOP56	10528	broad.mit.edu	37	20	2635158	2635158	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:2635158G>A	uc002wgh.3	+	3	436	c.307G>A	c.(307-309)Gca>Aca	p.A103T	NOP56_uc010zpy.2_Non-coding_Transcript|NOP56_uc002wgi.3_5'UTR|SNORA51_uc002wgk.1_5'Flank	NM_006392	NP_006383	O00567	NOP56_HUMAN	Homo sapiens NOP56 ribonucleoprotein homolog (yeast) (NOP56), transcript variant 1, mRNA.	103					rRNA processing	box C/D snoRNP complex|pre-snoRNP complex	protein binding|snoRNA binding	p.A103T(4)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25						GATTGGTGCCGCAATACAGGA	0.517000														43			31		0	0	1	0	0
BIVM-ERCC5	100533467	broad.mit.edu	37	13	103491950	103491950	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:103491950C>T	uc001vpu.2	+	8	1369	c.1247C>T	c.(1246-1248)gCa>gTa	p.A416V	BIVM-ERCC5_uc001vps.3_Missense_Mutation_p.A416V|BIVM-ERCC5_uc010agc.3_Missense_Mutation_p.A194V|BIVM-ERCC5_uc001vpv.3_Missense_Mutation_p.A187V	NM_001204425	NP_001191354	Q59FZ7	Q59FZ7_HUMAN	Homo sapiens BIVM-ERCC5 readthrough (BIVM-ERCC5), mRNA.	387					nucleotide-excision repair	nucleus	endonuclease activity|single-stranded DNA binding										TGCATCATAGCATTCCAGAGA	0.393000														85			11		0	0	1	0	0
MYBPC2	4606	broad.mit.edu	37	19	50964891	50964891	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:50964891C>T	uc002psf.2	+	24	3075	c.3024C>T	c.(3022-3024)acC>acT	p.T1008T		NM_004533	NP_004524	Q14324	MYPC2_HUMAN	Homo sapiens myosin binding protein C, fast type (MYBPC2), mRNA.	1008	Fibronectin type-III 3.				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		GAGTTTACACCGAGAACATCT	0.537000											OREG0025636	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		14			14		0	0	1	0	0
KCTD21	283219	broad.mit.edu	37	11	77885272	77885272	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:77885272G>A	uc001ozb.3	-	1	404	c.329C>T	c.(328-330)gCc>gTc	p.A110V	KCTD21_uc021qnx.1_Missense_Mutation_p.A110V	NM_001029859	NP_001025030	Q4G0X4	KCD21_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 21 (KCTD21), mRNA.	110						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(2)	11	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.46e-24)			GTTGAGCATGGCATTCTTCTC	0.602000														25			16		0	0	1	0	0
COG4	25839	broad.mit.edu	37	16	70516638	70516638	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:70516638G>A	uc002ezc.3	-	14	1925	c.1914C>T	c.(1912-1914)atC>atT	p.I638I	COG4_uc002ezd.3_Silent_p.I617I|COG4_uc010cfu.3_Non-coding_Transcript|COG4_uc002eze.3_Silent_p.I332I	NM_015386	NP_056201	Q9H9E3	COG4_HUMAN	Homo sapiens component of oligomeric golgi complex 4 (COG4), transcript variant 1, mRNA.	634	D domain.				Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding	p.N637delN(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|pancreas(1)|prostate(2)	33		Ovarian(137;0.0694)				TAACCTCCTCGATGTTGTGGG	0.572000														14			13		0	0	1	0	0
CUX2	23316	broad.mit.edu	37	12	111785522	111785522	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:111785522G>T	uc001tsa.2	+	21	4008	c.3854G>T	c.(3853-3855)aGc>aTc	p.S1285I		NM_015267	NP_056082	O14529	CUX2_HUMAN	Homo sapiens cut-like homeobox 2 (CUX2), mRNA.	1285						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						GAGGAGAACAGCACACCCCTG	0.617000														14			12		5.50884e-06	6.15991e-06	1	1	0
ZZZ3	26009	broad.mit.edu	37	1	78045282	78045282	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:78045282G>T	uc001dhq.3	-	9	2488	c.2012C>A	c.(2011-2013)cCt>cAt	p.P671H	ZZZ3_uc001dhr.3_Missense_Mutation_p.P177H|ZZZ3_uc001dhp.3_Missense_Mutation_p.P670H	NM_015534	NP_056349	Q8IYH5	ZZZ3_HUMAN	Homo sapiens zinc finger, ZZ-type containing 3 (ZZZ3), mRNA.	671	HTH myb-type.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						TTCTTCAGGAGGGTATTTGAT	0.373000														183			30		5.60225e-13	6.94765e-13	1	1	0
TMPRSS3	64699	broad.mit.edu	37	21	43809106	43809106	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:43809106C>T	uc002zbb.2	-	3	455	c.254G>A	c.(253-255)tGt>tAt	p.C85Y	TMPRSS3_uc002zaz.2_5'UTR|TMPRSS3_uc002zba.2_5'UTR|TMPRSS3_uc002zbc.2_Missense_Mutation_p.C85Y|TMPRSS3_uc002zbd.3_Missense_Mutation_p.C85Y	NM_024022	NP_076927	P57727	TMPS3_HUMAN	Homo sapiens transmembrane protease, serine 3 (TMPRSS3), transcript variant A, mRNA.	85	LDL-receptor class A.				cellular sodium ion homeostasis|proteolysis	endoplasmic reticulum membrane|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity|sodium channel regulator activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1)	13						CAGCTCGATACACTTAAAGGA	0.522000														24			9		0	0	1	0	0
ATXN2L	11273	broad.mit.edu	37	16	28844586	28844586	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:28844586G>A	uc002dqy.3	+	13	2033	c.1866G>A	c.(1864-1866)gaG>gaA	p.E622E	NPIPL1_uc010vct.2_Intron|ATXN2L_uc010byl.1_Silent_p.E598E|ATXN2L_uc002dqz.3_Silent_p.E622E|ATXN2L_uc002dra.3_Silent_p.E622E|ATXN2L_uc002drb.3_Silent_p.E622E|ATXN2L_uc002drc.3_Silent_p.E622E|ATXN2L_uc010vdb.2_Silent_p.E628E|ATXN2L_uc002dre.3_Silent_p.E622E|ATXN2L_uc002drf.3_Silent_p.E31E|ATXN2L_uc002drg.3_5'Flank	NM_148414	NP_680780	Q8WWM7	ATX2L_HUMAN	Homo sapiens ataxin 2-like (ATXN2L), transcript variant C, mRNA.	622						membrane				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						AGGGGCCAGAGCAGCCCCCAC	0.617000														59			23		0	0	1	0	0
MAPK13	5603	broad.mit.edu	37	6	36103602	36103602	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:36103602C>T	uc003ols.3	+	3	479	c.381C>T	c.(379-381)atC>atT	p.I127I	MAPK13_uc003olt.3_Non-coding_Transcript	NM_002754	NP_002745	O15264	MK13_HUMAN	Homo sapiens mitogen-activated protein kinase 13 (MAPK13), mRNA.	127	Protein kinase.				Ras protein signal transduction|cell cycle|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|positive regulation of interleukin-6 production|response to stress		ATP binding|MAP kinase activity|protein binding			breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|prostate(2)|skin(1)	12						AGGAGAAGATCCAGTACCTGG	0.552000														33			30		0	0	1	0	0
CHRNA1	1134	broad.mit.edu	37	2	175613338	175613338	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:175613338C>A	uc002ujd.2	-	8	1365	c.1287G>T	c.(1285-1287)gaG>gaT	p.E429D	BC046497_uc002uiw.3_Intron|CHRNA1_uc002uje.2_Missense_Mutation_p.E404D	NM_001039523	NP_001034612	P02708	ACHA_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 1 (muscle) (CHRNA1), transcript variant 1, mRNA.	429					muscle cell homeostasis|neuromuscular junction development|neuromuscular process|neuromuscular synaptic transmission|neuron homeostasis|regulation of action potential in neuron|skeletal muscle contraction|skeletal muscle tissue growth	cell junction|cell surface|neuromuscular junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	p.E429Q(1)		breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4)	37						ACTTCATGGTCTCTGCGATGT	0.502000											OREG0015079	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		61			8		0.0381472	0.0388409	1	1	0
TCTE1	202500	broad.mit.edu	37	6	44253802	44253802	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:44253802C>T	uc003oxi.2	-	2	901	c.745G>A	c.(745-747)Gtc>Atc	p.V249I	TMEM151B_uc003oxg.3_Intron|TMEM151B_uc003oxf.2_Intron	NM_182539	NP_872345	Q5JU00	TCTE1_HUMAN	Homo sapiens t-complex-associated-testis-expressed 1 (TCTE1), mRNA.	249										breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CAGTCCTTGACATCGTACACC	0.587000														94			9		0	0	1	0	0
DYNC1I1	1780	broad.mit.edu	37	7	95665036	95665036	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:95665036A>G	uc003uoc.4	+	12	1664	c.1387A>G	c.(1387-1389)Aca>Gca	p.T463A	DYNC1I1_uc003uod.4_Missense_Mutation_p.T446A|DYNC1I1_uc003uob.3_Missense_Mutation_p.T426A|DYNC1I1_uc003uoe.4_Missense_Mutation_p.T443A|DYNC1I1_uc010lfl.3_Missense_Mutation_p.T452A	NM_004411	NP_004402	O14576	DC1I1_HUMAN	Homo sapiens dynein, cytoplasmic 1, intermediate chain 1 (DYNC1I1), transcript variant 1, mRNA.	463					vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			TGAGGAAGGTACAGTCTACAC	0.448000														111			139		0	0	1	0	0
ALMS1	7840	broad.mit.edu	37	2	73675915	73675915	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:73675915C>A	uc002sje.1	+	7	2369	c.2258C>A	c.(2257-2259)aCt>aAt	p.T753N	ALMS1_uc002sjf.1_Missense_Mutation_p.T711N|ALMS1_uc002sjg.3_Missense_Mutation_p.T141N|ALMS1_uc002sjh.1_Missense_Mutation_p.T141N	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Homo sapiens Alstrom syndrome 1 (ALMS1), mRNA.	753	34 X 47 AA approximate tandem repeat.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						GACCAGAAGACTGAGATACCA	0.438000														194			22		7.41877e-09	8.75093e-09	1	1	0
OGDH	4967	broad.mit.edu	37	7	44746903	44746903	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:44746903C>T	uc003tln.3	+	20	2871	c.2712C>T	c.(2710-2712)tgC>tgT	p.C904C	OGDH_uc011kbx.2_Silent_p.C900C|OGDH_uc011kby.2_Silent_p.C754C|OGDH_uc003tlp.3_Silent_p.C915C|OGDH_uc011kbz.2_Silent_p.C699C	NM_002541	NP_002532	Q02218	ODO1_HUMAN	Homo sapiens oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide) (OGDH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	904					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					NADH(DB00157)	TTCTCTTCTGCACCGGCAAAG	0.567000														30			29		0	0	1	0	0
SLC6A15	55117	broad.mit.edu	37	12	85257248	85257248	+	Silent	SNP	A	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:85257248A>T	uc001szv.3	-	10	2281	c.1788T>A	c.(1786-1788)ccT>ccA	p.P596P	SLC6A15_uc010sul.2_Silent_p.P489P	NM_182767	NP_001139807	Q9H2J7	S6A15_HUMAN	Homo sapiens solute carrier family 6 (neutral amino acid transporter), member 15 (SLC6A15), transcript variant 1, mRNA.	596					cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						TATAGCCAGGAGGACTTAATC	0.308000														114			11		0	0	1	0	0
MAGEE2	139599	broad.mit.edu	37	X	75004711	75004711	+	Missense_Mutation	SNP	G	T	T	rs140206798	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:75004711G>T	uc004ecj.2	-	0	369	c.176C>A	c.(175-177)tCc>tAc	p.S59Y		NM_138703	NP_619648	Q8TD90	MAGE2_HUMAN	Homo sapiens melanoma antigen family E, 2 (MAGEE2), mRNA.	59										autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AACGGCCTGGGAAGTGTTGAC	0.597000														31			27		4.59853e-10	5.52125e-10	1	1	0
SYNE1	23345	broad.mit.edu	37	6	152553312	152553312	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:152553312T>C	uc021zhb.1	-	110	21024	c.20801A>G	c.(20800-20802)gAa>gGa	p.E6934G	SYNE1_uc003qos.4_Missense_Mutation_p.E1458G|SYNE1_uc003qot.4_Missense_Mutation_p.E6863G|SYNE1_uc003qou.4_Missense_Mutation_p.E6934G	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	6934					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	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)		AATATTATCTTCATCCTTCTG	0.318000										HNSCC(10;0.0054)				85			15		0	0	1	0	0
MTCH1	23787	broad.mit.edu	37	6	36945433	36945433	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:36945433C>T	uc003one.4	-	4	626	c.626G>A	c.(625-627)cGc>cAc	p.R209H	MTCH1_uc003onc.1_Missense_Mutation_p.R209H|MTCH1_uc010jwo.1_Non-coding_Transcript|MTCH1_uc003ond.1_Missense_Mutation_p.R209H|MTCH1_uc011dtt.2_Missense_Mutation_p.R41H	NM_014341	NP_055156	Q9NZJ7	MTCH1_HUMAN	Homo sapiens mitochondrial carrier 1 (MTCH1), nuclear gene encoding mitochondrial protein, mRNA.	209					activation of caspase activity|neuronal ion channel clustering|positive regulation of apoptosis|regulation of signal transduction|transport	integral to membrane|mitochondrial inner membrane	protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	6						GGCCAACATGCGGGACACACA	0.662000											OREG0017393	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		6			8		0	0	1	0	0
CBX4	8535	broad.mit.edu	37	17	77808831	77808831	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:77808831C>T	uc002jxe.3	-	4	773	c.610G>A	c.(610-612)Gcc>Acc	p.A204T		NM_003655	NP_003646	O00257	CBX4_HUMAN	Homo sapiens chromobox homolog 4 (CBX4), mRNA.	204	Interaction with BMI1.				anti-apoptosis|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|PcG protein complex	enzyme binding|transcription corepressor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			TAGCCTTTGGCCCCCGCACCT	0.736000											OREG0024799	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		28			13		0	0	1	0	0
CRTC2	200186	broad.mit.edu	37	1	153920936	153920936	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:153920936G>A	uc021pab.1	-	12	2018	c.1859C>T	c.(1858-1860)aCa>aTa	p.T620I	DENND4B_uc001fdd.1_5'Flank|CRTC2_uc001fde.4_Non-coding_Transcript|CRTC2_uc001fdf.4_Missense_Mutation_p.T156I	NM_181715	NP_859066	Q53ET0	CRTC2_HUMAN	Homo sapiens CREB regulated transcription coactivator 2 (CRTC2), mRNA.	620					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding			NS(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	27	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CCATTCACCTGTGAGGATGAT	0.542000														29			16		0	0	1	0	0
ANKRD30B	374860	broad.mit.edu	37	18	14752923	14752923	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:14752923C>T	uc010dlo.2	+	2	602	c.422C>T	c.(421-423)aCg>aTg	p.T141M	ANKRD30B_uc010xak.2_Non-coding_Transcript|ANKRD30B_uc021uhy.1_Missense_Mutation_p.T141M	NM_001145029	NP_001138501	Q9BXX2	AN30B_HUMAN	Homo sapiens ankyrin repeat domain 30B (ANKRD30B), mRNA.	141										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						TATGGCAACACGGCTCTCCAT	0.428000														5			5		0	0	1	0	0
ATF6	22926	broad.mit.edu	37	1	161790922	161790922	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:161790922A>G	uc001gbs.3	+	8	1275	c.1158A>G	c.(1156-1158)gcA>gcG	p.A386A	ATF6_uc001gbq.2_Silent_p.A386A	NM_007348	NP_031374	P18850	ATF6A_HUMAN	Homo sapiens activating transcription factor 6 (ATF6), mRNA.	386					positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|protein folding	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|nuclear envelope|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(14)|ovary(3)|skin(1)|stomach(1)	34	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.00953)			TAGTATTGGCATTTATAATAC	0.318000														110			8		0	0	1	0	0
LRRC25	126364	broad.mit.edu	37	19	18502922	18502922	+	Nonsense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:18502922C>A	uc002niw.3	-	1	1435	c.793G>T	c.(793-795)Gag>Tag	p.E265*	LRRC25_uc002nix.3_Nonsense_Mutation_p.E265*	NM_145256	NP_660299	Q8N386	LRC25_HUMAN	Homo sapiens leucine rich repeat containing 25 (LRRC25), mRNA.	265						integral to membrane				endometrium(1)|large_intestine(3)|lung(3)|skin(1)	8						TCATTGTCCTCTGAAGGGTGA	0.562000														54			34		2.6416e-12	3.25532e-12	1	1	0
UBC	7316	broad.mit.edu	37	12	125397435	125397435	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:125397435G>T	uc001ugs.4	-	1	1341	c.883C>A	c.(883-885)Ctg>Atg	p.L295M	UBC_uc001ugr.3_5'Flank|UBC_uc001ugt.3_Missense_Mutation_p.L295M|UBC_uc001ugu.1_Missense_Mutation_p.L295M|UBC_uc001ugv.3_Intron|UBC_uc021rge.1_Missense_Mutation_p.L295M|UBC_uc001ugw.3_Missense_Mutation_p.L143M	NM_021009	NP_066289	P0CG48	UBC_HUMAN	Homo sapiens ubiquitin C (UBC), mRNA.	295	Ubiquitin-like 4.				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|JNK cascade|M/G1 transition of mitotic cell cycle|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|S phase of mitotic cell cycle|T cell receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|innate immune response|mRNA metabolic process|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		ACCAGGTGCAGGGTAGACTCT	0.547000														97			52		8.27458e-37	1.09768e-36	1	1	0
PKHD1L1	93035	broad.mit.edu	37	8	110448591	110448591	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:110448591G>A	uc003yne.3	+	29	3634	c.3530G>A	c.(3529-3531)gGa>gAa	p.G1177E		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	1177	IPT/TIG 5.				immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.T1176I(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ACTTTATCTGGATTTGGCTTT	0.318000										HNSCC(38;0.096)				36			18		0	0	1	0	0
L1CAM	3897	broad.mit.edu	37	X	153130424	153130424	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153130424C>T	uc004fjb.3	-	21	3006	c.2898G>A	c.(2896-2898)ctG>ctA	p.L966L	L1CAM_uc004fjc.3_Silent_p.L966L|L1CAM_uc010nuo.3_Silent_p.L961L	NM_000425	NP_000416	P32004	L1CAM_HUMAN	Homo sapiens L1 cell adhesion molecule (L1CAM), transcript variant 1, mRNA.	966	Fibronectin type-III 4.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGTTGAAGGACAGTTGCCCCT	0.652000														81			51		0	0	1	0	0
DOCK10	55619	broad.mit.edu	37	2	225727444	225727444	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:225727444T>G	uc010fwz.1	-	13	1861	c.1622A>C	c.(1621-1623)aAa>aCa	p.K541T	DOCK10_uc002vob.2_Missense_Mutation_p.K535T|DOCK10_uc002vod.1_Missense_Mutation_p.K541T	NM_014689	NP_055504	Q96BY6	DOC10_HUMAN	Homo sapiens dedicator of cytokinesis 10 (DOCK10), mRNA.	541							GTP binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		TCTGTTGGATTTTAGTATCTT	0.303000														26			4		0	0	1	0	0
TG	7038	broad.mit.edu	37	8	133900548	133900548	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:133900548C>T	uc003ytw.3	+	9	2537	c.2496C>T	c.(2494-2496)gtC>gtT	p.V832V		NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	832	Thyroglobulin type-1 7.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	p.D831Y(1)		NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		AGCAAGATGTCTTCCCGGTGC	0.527000														40			9		0	0	1	0	0
MAP3K11	4296	broad.mit.edu	37	11	65366003	65366003	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:65366003C>T	uc001oew.3	-	9	2796	c.2303G>A	c.(2302-2304)cGg>cAg	p.R768Q	KCNK7_uc001oeq.3_5'Flank|KCNK7_uc001oer.3_5'Flank|KCNK7_uc001oes.3_5'Flank|KCNK7_uc001oeu.3_5'Flank|MAP3K11_uc001oev.3_Missense_Mutation_p.R184Q|MAP3K11_uc010rol.2_Missense_Mutation_p.R511Q|MAP3K11_uc001oex.1_Missense_Mutation_p.R257Q	NM_002419	NP_002410	Q16584	M3K11_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 11 (MAP3K11), mRNA.	768	Pro-rich.				G1 phase of mitotic cell cycle|activation of JUN kinase activity|cell proliferation|microtubule-based process|positive regulation of JNK cascade|protein autophosphorylation	centrosome|microtubule	ATP binding|JUN kinase kinase kinase activity|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(14)|skin(1)	24						GGGCGAGGGCCGAGGTCGGCT	0.682000														11			9		0	0	1	0	0
FAM110B	90362	broad.mit.edu	37	8	59059400	59059400	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:59059400G>A	uc022auu.1	+	0	611	c.611G>A	c.(610-612)cGc>cAc	p.R204H	FAM110B_uc003xtj.1_Missense_Mutation_p.R204H	NM_147189	NP_671722	Q8TC76	F110B_HUMAN	Homo sapiens family with sequence similarity 110, member B (FAM110B), mRNA.	204						microtubule organizing center|mitochondrion|nucleus		p.R204H(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)	26		all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355)				TCGGACATCCGCAAGGTGACC	0.657000														31			22		0	0	1	0	0
PFN3	345456	broad.mit.edu	37	5	176827109	176827109	+	Splice_Site	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:176827109G>A	uc003mgl.2	-	1	530	c.470_splice	c.e1+1			NM_001029886	NP_001025057	P60673	PROF3_HUMAN	Homo sapiens profilin 3 (PFN3), mRNA.						actin cytoskeleton organization	actin cytoskeleton|cytoplasm	actin binding			lung(1)	1	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGCCAGCCGCGCCCAGGTCAC	0.622000														2			9		0	0	1	0	0
TSPYL5	85453	broad.mit.edu	37	8	98289179	98289179	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:98289179G>A	uc003yhy.3	-	0	998	c.894C>T	c.(892-894)ttC>ttT	p.F298F		NM_033512	NP_277047	Q86VY4	TSYL5_HUMAN	Homo sapiens TSPY-like 5 (TSPYL5), mRNA.	298					cellular response to gamma radiation|nucleosome assembly|positive regulation of cell proliferation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|regulation of growth	nucleus	protein binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	20	Breast(36;2.56e-06)					GGTTGCGATCGAAGTAGAACT	0.478000														44			4		0	0	1	0	0
DUPD1	338599	broad.mit.edu	37	10	76818215	76818215	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:76818215G>A	uc001jwq.1	-	0	58	c.58C>T	c.(58-60)Ctg>Ttg	p.L20L		NM_001003892	NP_001003892	Q68J44	DUPD1_HUMAN	Homo sapiens dual specificity phosphatase and pro isomerase domain containing 1 (DUPD1), mRNA.	20						cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(2)|lung(5)|ovary(2)|urinary_tract(1)	11	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					TTCGGCGACAGCCTCTTGGCA	0.542000														29			23		0	0	1	0	0
L32131	0	broad.mit.edu	37	17	58511092	58511092	+	RNA	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:58511092C>T	uc002iyr.1	-	0		c.2266G>A								Homo sapiens cDNA FLJ33664 fis, clone BRAMY2027451, moderately similar to 60S RIBOSOMAL PROTEIN L12.																		GCTTAACTAGCTGGGCATTCC	0.403000														14			11		0	0	1	0	0
ABCC5	10057	broad.mit.edu	37	3	183677558	183677558	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:183677558T>C	uc003fmg.3	-	16	2610	c.2445A>G	c.(2443-2445)ggA>ggG	p.G815G	ABCC5_uc011bqt.2_Silent_p.G343G|ABCC5_uc010hxl.3_Silent_p.G815G	NM_005688	NP_005679	O15440	MRP5_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 5 (ABCC5), transcript variant 1, mRNA.	815						integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			TCTTTACTGATCCTGTTTTAG	0.328000														50			36		0	0	1	0	0
FREM2	341640	broad.mit.edu	37	13	39422740	39422740	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:39422740G>A	uc001uwv.3	+	7	6621	c.6312G>A	c.(6310-6312)atG>atA	p.M2104I	FREM2_uc001uww.3_Missense_Mutation_p.M190I	NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	Homo sapiens FRAS1 related extracellular matrix protein 2 (FREM2), mRNA.	2104					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TGCTTCGCATGCCTATGAACG	0.463000														29			22		0	0	1	0	0
ABCA7	10347	broad.mit.edu	37	19	1043735	1043735	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:1043735C>A	uc002lqw.4	+	9	1173	c.942C>A	c.(940-942)acC>acA	p.T314T	ABCA7_uc010dsb.1_Silent_p.T176T	NM_019112	NP_061985	Q8IZY2	ABCA7_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 7 (ABCA7), mRNA.	314					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|Golgi membrane|endosome membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity	p.R313Q(1)		NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGAACCGGACCTTCGAGGAGC	0.632000														82			53		1.67886e-27	2.20686e-27	1	1	0
HMCN1	83872	broad.mit.edu	37	1	186045576	186045576	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:186045576G>T	uc001grq.1	+	53	8536	c.8307G>T	c.(8305-8307)caG>caT	p.Q2769H	MIR548F1_uc021pgf.1_Intron	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	2769	Ig-like C2-type 26.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CAAGTTTTCAGAAACTCTGGG	0.383000														28			11		2.80697e-09	3.3309e-09	1	1	0
MYT1	4661	broad.mit.edu	37	20	62854707	62854707	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:62854707C>T	uc002yii.3	+	15	2887	c.2523C>T	c.(2521-2523)gaC>gaT	p.D841D	MYT1_uc002yih.3_Intron|MYT1_uc002yij.3_Silent_p.D500D	NM_004535	NP_004526	Q01538	MYT1_HUMAN	Homo sapiens myelin transcription factor 1 (MYT1), mRNA.	841					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					ACTCTGCTGACCTCAAGTATG	0.547000														117			85		0	0	1	0	0
ARHGEF10L	55160	broad.mit.edu	37	1	17934328	17934328	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:17934328G>A	uc001ban.3	+	6	624	c.465G>A	c.(463-465)gcG>gcA	p.A155A	ARHGEF10L_uc009vpe.1_Silent_p.A155A|ARHGEF10L_uc001bao.3_Silent_p.A155A|ARHGEF10L_uc001bap.3_Silent_p.A155A|ARHGEF10L_uc010ocr.1_5'UTR	NM_018125	NP_060595	Q9HCE6	ARGAL_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 10-like (ARHGEF10L), transcript variant 1, mRNA.	155					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		ACGAGGATGCGCACCGGGCTG	0.687000														10			6		0	0	1	0	0
SH2D3A	10045	broad.mit.edu	37	19	6760693	6760693	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:6760693G>A	uc002mft.3	-	2	569	c.375C>T	c.(373-375)agC>agT	p.S125S	SH2D3A_uc010xjg.2_Intron	NM_005490	NP_005481	Q9BRG2	SH23A_HUMAN	Homo sapiens SH2 domain containing 3A (SH2D3A), mRNA.	125					JNK cascade|small GTPase mediated signal transduction	intracellular	SH3/SH2 adaptor activity|guanyl-nucleotide exchange factor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1)	24						GGGTGTCCTCGCTAAAGCTGC	0.597000														12			12		0	0	1	0	0
RAD1	5810	broad.mit.edu	37	5	34911885	34911885	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:34911885C>A	uc003jix.3	-	3	669	c.340G>T	c.(340-342)Ggt>Tgt	p.G114C	RAD1_uc003jiw.3_Missense_Mutation_p.G5C|RAD1_uc003jiy.3_Missense_Mutation_p.G114C	NM_002853	NP_002844	O60671	RAD1_HUMAN	Homo sapiens RAD1 homolog (S. pombe) (RAD1), transcript variant 1, mRNA.	114			G -> D (in dbSNP:rs2308957).		DNA damage checkpoint|DNA repair|DNA replication|meiotic prophase I	nucleoplasm	3'-5' exonuclease activity|damaged DNA binding|exodeoxyribonuclease III activity|protein binding			endometrium(3)|large_intestine(1)|lung(5)|urinary_tract(1)	10	all_lung(31;0.000107)	Lung NSC(810;5.19e-05)|Ovarian(839;0.0448)|Breast(839;0.198)	COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)			TAACCATAACCTTGGTAACAC	0.443000								Other conserved DNA damage response genes						98			13		4.3838e-07	5.01911e-07	1	1	0
KIF5B	3799	broad.mit.edu	37	10	32306236	32306236	+	Nonsense_Mutation	SNP	G	A	A	rs150818260		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:32306236G>A	uc001iwe.4	-	23	3066	c.2596C>T	c.(2596-2598)Cga>Tga	p.R866*		NM_004521	NP_004512	P33176	KINH_HUMAN	Homo sapiens kinesin family member 5B (KIF5B), mRNA.	866					stress granule disassembly|vesicle transport along microtubule	kinesin complex|microtubule|perinuclear region of cytoplasm|vesicle	ATP binding|microtubule binding|microtubule motor activity	p.R866Q(1)	KIF5B/ALK(8)|KIF5B/RET(79)	NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)	35		Prostate(175;0.0137)				GCTCGAAGTCGCTTTTCCAAC	0.418000			T	"""RET, ALK"""	NSCLC									67			7		0	0	1	0	0
APOA4	337	broad.mit.edu	37	11	116693862	116693862	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:116693862C>T	uc001pps.1	-	0	150	c.46G>A	c.(46-48)Gcc>Acc	p.A16T		NM_000482	NP_000473			Homo sapiens apolipoprotein A-IV (APOA4), mRNA.											cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		TACTCACCGGCGACAGCCACC	0.587000														92			55		0	0	1	0	0
EIF3A	8661	broad.mit.edu	37	10	120801913	120801913	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:120801913C>T	uc001ldu.3	-	18	3265	c.3119G>A	c.(3118-3120)cGt>cAt	p.R1040H	EIF3A_uc010qsu.2_Missense_Mutation_p.R1006H|EIF3A_uc009xzg.1_Missense_Mutation_p.R79H	NM_003750	NP_003741	Q14152	EIF3A_HUMAN	Homo sapiens eukaryotic translation initiation factor 3, subunit A (EIF3A), mRNA.	1040	25 X 10 AA approximate tandem repeats of [DE]-[DE]-[DE]-R-[SEVGFPILV]-[HPSN]- [RSW]-[RL]-[DRGTIHN]-[EPMANLGDT].|Asp-rich.				formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity			endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		ATCCATCCCACGTCTTGGTCC	0.597000														118			62		0	0	1	0	0
SMAD9	4093	broad.mit.edu	37	13	37446850	37446850	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:37446850G>A	uc001uvw.3	-	2	958	c.615C>T	c.(613-615)agC>agT	p.S205S	SMAD9_uc001uvx.3_Silent_p.S205S|SMAD9_uc010tep.2_Silent_p.S35S	NM_001127217	NP_001120689	O15198	SMAD9_HUMAN	Homo sapiens SMAD family member 9 (SMAD9), transcript variant a, mRNA.	205					BMP signaling pathway|transforming growth factor beta receptor signaling pathway	cytosol|transcription factor complex	sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)	18		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026)		AGTGAGGGTAGCTGGCCGTGC	0.577000														25			20		0	0	1	0	0
TMEM138	51524	broad.mit.edu	37	11	61135448	61135448	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:61135448G>A	uc010rli.2	+	3	913	c.354G>A	c.(352-354)atG>atA	p.M118I	TMEM138_uc021qke.1_Non-coding_Transcript|TMEM138_uc001nrl.2_Missense_Mutation_p.M118I	NM_016464	NP_057548	Q9NPI0	TM138_HUMAN	Homo sapiens transmembrane protein 138 (TMEM138), transcript variant 1, mRNA.	118						integral to membrane				central_nervous_system(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5						GACTTCAAATGCTGTTTGTAT	0.478000														258			55		0	0	1	0	0
ITFG2	55846	broad.mit.edu	37	12	2933326	2933326	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:2933326G>A	uc001qlb.2	+	11	1451	c.1311G>A	c.(1309-1311)caG>caA	p.Q437Q	ITFG2_uc010seb.2_Silent_p.Q260Q|ITFG2_uc010sec.2_Non-coding_Transcript	NM_018463	NP_060933	Q969R8	ITFG2_HUMAN	Homo sapiens integrin alpha FG-GAP repeat containing 2 (ITFG2), mRNA.	437										central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			AGCCACCACAGTGTGCTCCCT	0.567000														45			4		0	0	1	0	0
SYCP1	6847	broad.mit.edu	37	1	115428851	115428851	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:115428851G>A	uc001efr.3	+	13	1320	c.1111G>A	c.(1111-1113)Gct>Act	p.A371T	SYCP1_uc010owt.2_Non-coding_Transcript|SYCP1_uc001efq.3_Missense_Mutation_p.A371T|SYCP1_uc009wgw.3_Missense_Mutation_p.A371T	NM_003176	NP_003167	Q15431	SYCP1_HUMAN	Homo sapiens synaptonemal complex protein 1 (SYCP1), mRNA.	371					cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TAAAGCTAGAGCTGCTCATTC	0.318000														54			23		0	0	1	0	0
ACTN4	81	broad.mit.edu	37	19	39214701	39214701	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:39214701C>A	uc002oja.2	+	13	1795	c.1676C>A	c.(1675-1677)aCc>aAc	p.T559N	ACTN4_uc021uug.1_Missense_Mutation_p.T340N	NM_004924	NP_004915	O43707	ACTN4_HUMAN	Homo sapiens actinin, alpha 4 (ACTN4), mRNA.	559					platelet activation|platelet degranulation|positive regulation of cellular component movement|positive regulation of sodium:hydrogen antiporter activity|protein transport|regulation of apoptosis	extracellular region|nucleolus|perinuclear region of cytoplasm|platelet alpha granule lumen|protein complex|pseudopodium|ribonucleoprotein complex	actin filament binding|calcium ion binding|integrin binding|nucleoside binding|protein homodimerization activity			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|urinary_tract(3)	30	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			ATCGTCCATACCATCGAGGAG	0.642000														37			22		6.36457e-07	7.26565e-07	1	1	0
KIAA2018	205717	broad.mit.edu	37	3	113378522	113378522	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:113378522C>A	uc003eam.3	-	6	2418	c.2007G>T	c.(2005-2007)caG>caT	p.Q669H	KIAA2018_uc003eal.3_Missense_Mutation_p.Q613H	NM_001009899	NP_001009899	Q68DE3	K2018_HUMAN	Homo sapiens KIAA2018 (KIAA2018), mRNA.	669					regulation of transcription, DNA-dependent	membrane|nucleus	DNA binding|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						AAGCAAAGAGCTGTCCATTTA	0.398000														78			51		2.27781e-18	2.91874e-18	1	1	0
CD109	135228	broad.mit.edu	37	6	74468752	74468752	+	Splice_Site	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:74468752G>T	uc003php.3	+	7	1189	c.758_splice	c.e7+1	p.K253_splice	CD109_uc003phq.3_Splice_Site_p.K253_splice|CD109_uc010kba.3_Splice_Site_p.K176_splice	NM_133493	NP_598000	Q6YHK3	CD109_HUMAN	Homo sapiens CD109 molecule (CD109), transcript variant 1, mRNA.	253						anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TCACGGCAAAGTAAGTGTCAT	0.313000														21			7		1.06961e-07	1.2399e-07	1	1	0
LATS1	9113	broad.mit.edu	37	6	150005294	150005294	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:150005294T>C	uc003qmu.1	-	3	1479	c.931A>G	c.(931-933)Aat>Gat	p.N311D	LATS1_uc010kif.1_Missense_Mutation_p.N206D|LATS1_uc003qmv.2_Missense_Mutation_p.N311D|LATS1_uc003qmw.3_Missense_Mutation_p.N311D|LATS1_uc010kig.1_Missense_Mutation_p.N206D	NM_004690	NP_004681	O95835	LATS1_HUMAN	Homo sapiens LATS, large tumor suppressor, homolog 1 (Drosophila) (LATS1), mRNA.	311					G2/M transition of mitotic cell cycle|cell division|cytoplasmic sequestering of protein|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity			central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		TTAGGAGGATTCATGGGGGAA	0.483000														111			9		0	0	1	0	0
SMAD1	4086	broad.mit.edu	37	4	146435905	146435905	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:146435905C>T	uc003ikc.3	+	1	556	c.140C>T	c.(139-141)gCc>gTc	p.A47V	SMAD1_uc003ikd.3_Missense_Mutation_p.A47V|SMAD1_uc010iov.3_Missense_Mutation_p.A47V|SMAD1_uc011cic.2_Missense_Mutation_p.A47V	NM_005900	NP_005891	Q15797	SMAD1_HUMAN	Homo sapiens SMAD family member 1 (SMAD1), transcript variant 1, mRNA.	47	MH1.				BMP signaling pathway|SMAD protein complex assembly|embryonic pattern specification|primary miRNA processing|transforming growth factor beta receptor signaling pathway	cytosol|integral to membrane|nuclear inner membrane	I-SMAD binding|co-SMAD binding|identical protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity			endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	17	all_hematologic(180;0.151)					AAGAAAGGTGCCATGGAGGAA	0.512000														17			16		0	0	1	0	0
LINC00518	221718	broad.mit.edu	37	6	10430257	10430257	+	RNA	SNP	T	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:10430257T>A	uc003myz.2	-	2		c.779A>T								Homo sapiens long intergenic non-protein coding RNA 518 (LINC00518), non-coding RNA.																		TTACATAAGGTCCATGTGTCT	0.488000											OREG0017184	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		112			10		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179577432	179577432	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179577432T>C	uc021vsy.1	-	90	23813	c.23588A>G	c.(23587-23589)tAc>tGc	p.Y7863C	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.Y4524C	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	8790	Ig-like 61.						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)			ACCTTTTATGTAGAGATGTGT	0.338000														44			31		0	0	1	0	0
CIC	23152	broad.mit.edu	37	19	42797910	42797910	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:42797910G>A	uc002otf.1	+	15	4002	c.3962G>A	c.(3961-3963)cGc>cAc	p.R1321H		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	Homo sapiens capicua homolog (Drosophila) (CIC), mRNA.	1321					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				ACCCCGGAGCGCAAGGAGGCG	0.687000			"""Mis, F, S"""		oligodendroglioma									24			21		0	0	1	0	0
LAMC2	3918	broad.mit.edu	37	1	183206503	183206503	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:183206503G>T	uc001gqa.2	+	17	2932	c.2618G>T	c.(2617-2619)aGg>aTg	p.R873M	LAMC2_uc001gpz.4_Missense_Mutation_p.R873M|LAMC2_uc010poa.2_Missense_Mutation_p.R573M	NM_005562	NP_005553	Q13753	LAMC2_HUMAN	Homo sapiens laminin, gamma 2 (LAMC2), transcript variant 1, mRNA.	873	Domain II and I.				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						GAAGCAAAGAGGATCAAACAA	0.468000														15			13		0.000219431	0.000236831	1	1	0
B3GALT5	10317	broad.mit.edu	37	21	41032932	41032932	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:41032932C>T	uc021wjj.1	+	0	446	c.446C>T	c.(445-447)gCg>gTg	p.A149V	B3GALT5_uc002yyb.1_Missense_Mutation_p.A149V|B3GALT5_uc002yye.2_Missense_Mutation_p.A149V|B3GALT5_uc002yyi.1_Missense_Mutation_p.A149V|B3GALT5_uc002yyj.1_Missense_Mutation_p.A149V|B3GALT5_uc002yyk.1_Missense_Mutation_p.A149V|B3GALT5_uc002yyl.1_Missense_Mutation_p.A149V|B3GALT5_uc002yym.1_Missense_Mutation_p.A149V	NM_033173	NP_149363	Q9Y2C3	B3GT5_HUMAN	Homo sapiens UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 5 (B3GALT5), transcript variant 5, mRNA.	149					protein glycosylation	Golgi membrane|endoplasmic reticulum|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	16		Prostate(19;2.55e-06)				TGTCCTCAGGCGGCGTTTGTG	0.448000														43			32		0	0	1	0	0
ATP12A	479	broad.mit.edu	37	13	25280490	25280490	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:25280490G>T	uc010aaa.3	+	14	2409	c.2076G>T	c.(2074-2076)aaG>aaT	p.K692N	ATP12A_uc001upp.3_Missense_Mutation_p.K686N	NM_001185085	NP_001172014	P54707	AT12A_HUMAN	Homo sapiens ATPase, H+/K+ transporting, nongastric, alpha polypeptide (ATP12A), transcript variant 1, mRNA.	686					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding	p.E691G(1)		breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	TGGAGCTGAAGGACATGAGCT	0.542000														23			18		1.50039e-11	1.83529e-11	1	1	0
PGR	5241	broad.mit.edu	37	11	100998621	100998621	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:100998621G>A	uc001pgh.2	-	0	1924	c.1181C>T	c.(1180-1182)gCg>gTg	p.A394V	PGR_uc001pgi.2_Missense_Mutation_p.A394V|PGR_uc009yww.1_Non-coding_Transcript|PGR_uc001pgj.2_Non-coding_Transcript|PGR_uc009ywx.1_Non-coding_Transcript|FJ515873_uc010rum.2_5'Flank	NM_000926	NP_000917	P06401	PRGR_HUMAN	Homo sapiens progesterone receptor (PGR), transcript variant 2, mRNA.	394	Modulating, Pro-Rich.				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)	GGAGGCCTCCGCGCCTTCCTC	0.701000														11			5		0	0	1	0	0
CDH13	1012	broad.mit.edu	37	16	83704395	83704395	+	Splice_Site	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:83704395T>G	uc010vns.2	+	10	1507	c.1243_splice	c.e10-1	p.F415_splice	CDH13_uc002fgx.3_Splice_Site_p.F368_splice|CDH13_uc010vnt.2_Splice_Site_p.F114_splice|CDH13_uc010vnu.2_Splice_Site_p.F329_splice	NM_001220488	NP_001207417	P55290	CAD13_HUMAN	Homo sapiens cadherin 13, H-cadherin (heart) (CDH13), transcript variant 2, mRNA.	368	Cadherin 3.				Rac protein signal transduction|Rho protein signal transduction|adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		TTGTTTGCAGTTTCAAGCCAC	0.428000														20			7		0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20996860	20996860	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:20996860C>T	uc010vbe.2	-	47	7204	c.7204G>A	c.(7204-7206)Gcc>Acc	p.A2402T	DNAH3_uc010vbd.2_5'Flank	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	2402	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GACATGGGGGCCTTGCTGATG	0.507000														57			31		0	0	1	0	0
TSPAN32	10077	broad.mit.edu	37	11	2334930	2334930	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:2334930C>T	uc001lvy.1	+	4	538	c.401C>T	c.(400-402)gCg>gTg	p.A134V	TSPAN32_uc001lvx.1_Missense_Mutation_p.A193V|TSPAN32_uc009ydk.1_Missense_Mutation_p.A144V|TSPAN32_uc010qxk.2_Missense_Mutation_p.A169V|TSPAN32_uc009ydl.1_Non-coding_Transcript|TSPAN32_uc001lvz.1_Missense_Mutation_p.A104V|TSPAN32_uc001lwb.1_Missense_Mutation_p.A104V|TSPAN32_uc001lwc.1_Missense_Mutation_p.A79V|TSPAN32_uc001lwd.1_5'Flank	NM_139022	NP_620591	Q96QS1	TSN32_HUMAN	Homo sapiens tetraspanin 32 (TSPAN32), mRNA.	134					cell-cell signaling	integral to membrane				breast(1)|central_nervous_system(1)|lung(4)|ovary(1)|skin(1)	8		all_epithelial(84;4.89e-05)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.00791)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.000533)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)		TATGAGCAGGCGATGAAAGGT	0.662000														5			3		0	0	1	0	0
DAPK1	1612	broad.mit.edu	37	9	90313593	90313593	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:90313593C>T	uc004apc.3	+	22	2772	c.2634C>T	c.(2632-2634)aaC>aaT	p.N878N	DAPK1_uc004apd.3_Silent_p.N878N|DAPK1_uc011ltg.2_Silent_p.N812N|DAPK1_uc011lth.2_Silent_p.N615N	NM_004938	NP_004929	P53355	DAPK1_HUMAN	Homo sapiens death-associated protein kinase 1 (DAPK1), mRNA.	878					apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						AGCTGAAGAACCCACTCCAAG	0.597000									Chronic Lymphocytic Leukemia, Familial Clustering of					45			12		0	0	1	0	0
AMPD3	272	broad.mit.edu	37	11	10521710	10521710	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:10521710C>T	uc001min.1	+	10	2007	c.1662C>T	c.(1660-1662)gaC>gaT	p.D554D	AMPD3_uc010rbz.1_Silent_p.D386D|AMPD3_uc009yfw.1_Non-coding_Transcript|AMPD3_uc001mio.1_Silent_p.D545D|AMPD3_uc009yfz.2_Non-coding_Transcript|AMPD3_uc001mip.1_Silent_p.D552D|AMPD3_uc009yfy.2_Silent_p.D545D	NM_000480	NP_001165902	Q01432	AMPD3_HUMAN	Homo sapiens adenosine monophosphate deaminase 3 (AMPD3), transcript variant 1, mRNA.	545					AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		CAAACCCGGACGTCTGGACCA	0.567000														60			8		0	0	1	0	0
UBE2O	63893	broad.mit.edu	37	17	74392626	74392626	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:74392626G>A	uc002jrm.4	-	13	2457	c.2392C>T	c.(2392-2394)Ctg>Ttg	p.L798L	UBE2O_uc002jrn.4_Silent_p.L798L|UBE2O_uc002jrl.4_Silent_p.L402L	NM_022066	NP_071349	Q9C0C9	UBE2O_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2O (UBE2O), mRNA.	798							ATP binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						TTCTCCATCAGCCCGGCCATG	0.632000														95			69		0	0	1	0	0
RGS12	6002	broad.mit.edu	37	4	3344777	3344777	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:3344777T>C	uc003ggw.3	+	2	2899	c.1995T>C	c.(1993-1995)ctT>ctC	p.L665L	RGS12_uc003ggu.2_Silent_p.L665L|RGS12_uc010ics.1_5'UTR|RGS12_uc011bvr.1_Non-coding_Transcript|RGS12_uc003ggv.3_Silent_p.L665L|RGS12_uc003ggy.1_Silent_p.L63L|RGS12_uc003ggx.1_Silent_p.L665L	NM_198229	NP_937872	O14924	RGS12_HUMAN	Homo sapiens regulator of G-protein signaling 12 (RGS12), transcript variant 1, mRNA.	665						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TTGATGATCTTGAGGTAATTT	0.443000														33			4		0	0	1	0	0
APPL1	26060	broad.mit.edu	37	3	57303715	57303715	+	Nonstop_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:57303715A>C	uc003dio.3	+	21	2277	c.2130A>C	c.(2128-2130)taA>taC	p.*710Y	ASB14_uc003dip.1_Intron|ASB14_uc003diq.3_Intron	NM_012096	NP_036228	Q9UKG1	DP13A_HUMAN	Homo sapiens adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1 (APPL1), mRNA.	0					apoptosis|cell cycle|cell proliferation|insulin receptor signaling pathway|regulation of apoptosis|regulation of establishment of protein localization in plasma membrane|regulation of glucose import	cytosol|early endosome membrane|microsome|nucleus|vesicle membrane	protein kinase B binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(10)|liver(2)|lung(4)|prostate(2)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)		CAGAAGCATAAGCTTATACTT	0.413000														52			34		0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10451166	10451166	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:10451166G>A	uc010coi.3	-	2	200	c.72C>T	c.(70-72)cgC>cgT	p.R24R	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Silent_p.R24R|MYH2_uc010coj.3_Silent_p.R24R	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	24	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						GGGCCTCAATGCGCTCCCTTT	0.512000														54			6		0	0	1	0	0
RSC1A1	6248	broad.mit.edu	37	1	15987550	15987550	+	Missense_Mutation	SNP	C	T	T	rs144434741		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:15987550C>T	uc010obn.2	+	0	1187	c.1187C>T	c.(1186-1188)tCt>tTt	p.S396F	DDI2_uc001awx.2_3'UTR|RSC1A1_uc009voj.2_Missense_Mutation_p.S396F	NM_006511	NP_006502	Q92681	RSCA1_HUMAN	Homo sapiens regulatory solute carrier protein, family 1, member 1 (RSC1A1), mRNA.	396					negative regulation of transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transport	Golgi apparatus|cell junction|nucleus	ion channel inhibitor activity			kidney(1)|large_intestine(3)|lung(6)|ovary(1)	11		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00276)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AAAGACCTTTCTGAAAGATGG	0.398000														31			28		0	0	1	0	0
ST18	9705	broad.mit.edu	37	8	53076618	53076618	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:53076618T>G	uc003xqz.2	-	7	1484	c.1328A>C	c.(1327-1329)aAa>aCa	p.K443T	ST18_uc011ldq.1_Missense_Mutation_p.K90T|ST18_uc011ldr.1_Missense_Mutation_p.K408T|ST18_uc011lds.1_Missense_Mutation_p.K348T|ST18_uc003xra.2_Missense_Mutation_p.K443T|ST18_uc003xrb.2_Missense_Mutation_p.K443T	NM_014682	NP_055497	O60284	ST18_HUMAN	Homo sapiens suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) (ST18), mRNA.	443						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				CATTGCCAATTTTTCAGCTGC	0.418000														58			33		0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79434660	79434660	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:79434660C>T	uc003hlb.2	+	64	10568	c.10128C>T	c.(10126-10128)caC>caT	p.H3376H		NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	3371					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						GACACCAGCACGTCTGCTCCA	0.498000														72			54		0	0	1	0	0
MCM10	55388	broad.mit.edu	37	10	13214455	13214455	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:13214455C>T	uc001ima.3	+	3	557	c.429C>T	c.(427-429)agC>agT	p.S143S	MCM10_uc001imb.3_Silent_p.S143S|MCM10_uc001imc.3_Silent_p.S143S	NM_182751	NP_877428	Q7L590	MCM10_HUMAN	Homo sapiens minichromosome maintenance complex component 10 (MCM10), transcript variant 1, mRNA.	143					DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|cell cycle checkpoint	nucleoplasm	metal ion binding|protein binding			central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						AGACAGCAAGCCCAGCCCGTC	0.373000														101			8		0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100677590	100677590	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100677590C>T	uc003uxp.1	+	2	2946	c.2893C>T	c.(2893-2895)Cct>Tct	p.P965S	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	965	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)					CACTTCATCTCCTACAACTGC	0.522000														221			211		0	0	1	0	0
EIF4G1	1981	broad.mit.edu	37	3	184040467	184040467	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:184040467C>T	uc003fnp.3	+	11	2015	c.1744C>T	c.(1744-1746)Cac>Tac	p.H582Y	EIF4G1_uc003fno.2_Missense_Mutation_p.H523Y|EIF4G1_uc010hxw.2_Missense_Mutation_p.H418Y|EIF4G1_uc010hxx.3_Missense_Mutation_p.H589Y|EIF4G1_uc003fnt.3_Missense_Mutation_p.H293Y|EIF4G1_uc010hxy.3_Missense_Mutation_p.H589Y|EIF4G1_uc003fnq.3_Missense_Mutation_p.H495Y|EIF4G1_uc003fnr.3_Missense_Mutation_p.H418Y|EIF4G1_uc003fns.3_Missense_Mutation_p.H542Y|EIF4G1_uc003fnv.4_Missense_Mutation_p.H582Y|EIF4G1_uc003fnw.3_Missense_Mutation_p.H589Y|EIF4G1_uc003fnx.3_Missense_Mutation_p.H386Y	NM_198241	NP_937885	Q04637	IF4G1_HUMAN	Homo sapiens eukaryotic translation initiation factor 4 gamma, 1 (EIF4G1), transcript variant 2, mRNA.	582	MIF4G.				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AGACAAAATTCACAATGCTGA	0.507000														21			18		0	0	1	0	0
TPCN1	53373	broad.mit.edu	37	12	113714766	113714766	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:113714766C>T	uc001tux.3	+	11	1375	c.1201C>T	c.(1201-1203)Cgc>Tgc	p.R401C	TPCN1_uc001tuw.3_Missense_Mutation_p.R329C|TPCN1_uc010syt.1_Missense_Mutation_p.R261C	NM_001143819	NP_060371	Q9ULQ1	TPC1_HUMAN	Homo sapiens two pore segment channel 1 (TPCN1), transcript variant 1, mRNA.	329						endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						CATTGAGAAACGCAAGTTCAA	0.557000														145			82		0	0	1	0	0
CLCN1	1180	broad.mit.edu	37	7	143039110	143039110	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:143039110G>A	uc003wcr.1	+	14	1758	c.1671G>A	c.(1669-1671)ctG>ctA	p.L557L	CLCN1_uc011ktc.1_Silent_p.L169L	NM_000083	NP_000074	P35523	CLCN1_HUMAN	Homo sapiens chloride channel 1, skeletal muscle (CLCN1), mRNA.	557					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					CTCACATCCTGCCCATGATGG	0.537000														70			23		0	0	1	0	0
RNF149	284996	broad.mit.edu	37	2	101898453	101898453	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:101898453T>C	uc002taz.2	-	5	1155	c.1027A>G	c.(1027-1029)Aat>Gat	p.N343D	RNF149_uc002tax.2_Non-coding_Transcript	NM_173647	NP_775918	Q8NC42	RN149_HUMAN	Homo sapiens ring finger protein 149 (RNF149), mRNA.	343						integral to membrane	ligase activity|zinc ion binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	12						AGACTCAAATTTGCAGCTGGA	0.488000														59			35		0	0	1	0	0
LARS	51520	broad.mit.edu	37	5	145524035	145524035	+	Splice_Site	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:145524035G>A	uc003lnx.1	-	17	1893	c.1655_splice	c.e17+1	p.T552_splice	LARS_uc011dbq.1_Splice_Site_p.T506_splice|LARS_uc011dbr.1_Splice_Site_p.T498_splice|LARS_uc011dbs.1_Splice_Site_p.T525_splice	NM_020117	NP_064502	Q9P2J5	SYLC_HUMAN	Homo sapiens leucyl-tRNA synthetase (LARS), mRNA.	552					leucyl-tRNA aminoacylation	cytosol	ATP binding|leucine-tRNA ligase activity|protein binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	CCCATCTTACGTTTCCAGGTT	0.363000														70			24		0	0	1	0	0
PPP1R9A	55607	broad.mit.edu	37	7	94917922	94917922	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:94917922G>T	uc003unp.3	+	14	3258	c.2976G>T	c.(2974-2976)caG>caT	p.Q992H	PPP1R9A_uc010lfj.3_Missense_Mutation_p.Q1268H|PPP1R9A_uc011kif.2_Missense_Mutation_p.Q1190H|PPP1R9A_uc003unq.3_Intron|PPP1R9A_uc011kig.2_Missense_Mutation_p.Q984H|PPP1R9A_uc003unr.3_Missense_Mutation_p.Q281H	NM_017650	NP_060120	Q9ULJ8	NEB1_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 9A (PPP1R9A), transcript variant 4, mRNA.	992	Interacts with TGN38 (By similarity).|SAM.					cell junction|synapse|synaptosome	actin binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			GTGTGCAGCAGGTTTCTCACT	0.453000										HNSCC(28;0.073)				93			21		1.55795e-14	1.95195e-14	1	1	0
MAP3K12	7786	broad.mit.edu	37	12	53878923	53878923	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:53878923G>T	uc001sdn.2	-	5	1327	c.1056C>A	c.(1054-1056)atC>atA	p.I352I	MAP3K12_uc001sdm.2_Silent_p.I319I	NM_001193511	NP_001180440	Q12852	M3K12_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 12 (MAP3K12), transcript variant 1, mRNA.	319	Protein kinase.				JNK cascade|histone phosphorylation|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|MAP kinase kinase kinase activity|magnesium ion binding|protein homodimerization activity|protein kinase binding			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						CCACACCCCAGATAATGGCTG	0.552000														44			9		0.00448238	0.0046769	1	1	0
UHRF1BP1L	23074	broad.mit.edu	37	12	100502171	100502171	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:100502171G>A	uc001tgq.3	-	1	429	c.200C>T	c.(199-201)tCc>tTc	p.S67F	UHRF1BP1L_uc001tgr.3_Missense_Mutation_p.S67F	NM_015054	NP_055869	A0JNW5	UH1BL_HUMAN	Homo sapiens UHRF1 binding protein 1-like (UHRF1BP1L), transcript variant 1, mRNA.	67										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						CACCCTAATGGACGCTTTATT	0.353000														52			35		0	0	1	0	0
DDX39A	10212	broad.mit.edu	37	19	14521801	14521801	+	Splice_Site	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:14521801C>A	uc002myo.3	-	5	731	c.613_splice	c.e5+1	p.D205_splice	DDX39A_uc010xnp.2_Splice_Site_p.D205_splice|DDX39A_uc010dzl.3_Splice_Site|DDX39A_uc010dzm.1_Splice_Site_p.D205_splice	NM_005804	NP_005795	O00148	DX39A_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 39A (DDX39A), transcript variant 1, mRNA.	205	Helicase ATP-binding.				mRNA export from nucleus|nuclear mRNA splicing, via spliceosome	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			NS(1)|endometrium(5)|kidney(1)|lung(2)|ovary(1)|pancreas(1)	11						GAGGACTCACCCAGCTGCTCC	0.617000														17			10		0.335167	0.336322	1	1	0
HAS3	3038	broad.mit.edu	37	16	69143877	69143877	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:69143877G>T	uc010cfh.3	+	1	803	c.579G>T	c.(577-579)aaG>aaT	p.K193N	HAS3_uc002ewk.3_Missense_Mutation_p.K193N|HAS3_uc010vlk.1_Missense_Mutation_p.K193N|HAS3_uc002ewl.3_Missense_Mutation_p.K193N	NM_001199280	NP_001186209	O00219	HAS3_HUMAN	Homo sapiens hyaluronan synthase 3 (HAS3), transcript variant 3, mRNA.	193					carbohydrate metabolic process	integral to plasma membrane	hyaluronan synthase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(2)	16		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.0694)		GGGGAGGCAAGCGCGAGGTCA	0.627000														31			4		0.00024832	0.000267289	1	1	0
MCCC2	64087	broad.mit.edu	37	5	70945895	70945895	+	Splice_Site	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:70945895G>T	uc003kbs.4	+	15	1512	c.1374_splice	c.e15-1	p.S458_splice	MCCC2_uc003kbt.4_Splice_Site	NM_022132	NP_071415	Q9HCC0	MCCB_HUMAN	Homo sapiens methylcrotonoyl-CoA carboxylase 2 (beta) (MCCC2), nuclear gene encoding mitochondrial protein, mRNA.	458	Carboxyltransferase.				leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|methylcrotonoyl-CoA carboxylase activity			endometrium(2)|kidney(15)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	30		Lung NSC(167;0.000697)|Prostate(74;0.0107)|Ovarian(174;0.0175)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.04e-54)	Biotin(DB00121)	TCTTCCCCCAGCCCAAGATTT	0.433000														22			14		0.000151284	0.000164177	1	1	0
PBRM1	55193	broad.mit.edu	37	3	52637555	52637555	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52637555G>A	uc003des.2	-	16	2773	c.2761C>T	c.(2761-2763)Cga>Tga	p.R921*	PBRM1_uc003dex.2_Intron|PBRM1_uc003deq.2_Nonsense_Mutation_p.R921*|PBRM1_uc003der.2_Nonsense_Mutation_p.R889*|PBRM1_uc003det.2_Nonsense_Mutation_p.R936*|PBRM1_uc003deu.2_Nonsense_Mutation_p.R936*|PBRM1_uc003dev.2_Non-coding_Transcript|PBRM1_uc003dew.2_Nonsense_Mutation_p.R921*|PBRM1_uc010hmk.1_Nonsense_Mutation_p.R921*|PBRM1_uc003dey.2_Nonsense_Mutation_p.R921*|PBRM1_uc003dez.1_Nonsense_Mutation_p.R921*|PBRM1_uc003dfb.1_Nonsense_Mutation_p.R834*|PBRM1_uc003dfa.1_Nonsense_Mutation_p.R267*	NM_181042	NP_060635	Q86U86	PB1_HUMAN	Homo sapiens polybromo 1 (PBRM1), transcript variant 4, mRNA.	921					chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	DNA binding|chromatin binding|protein binding	p.R921*(3)|p.R889*(1)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TCTTCTTCTCGTTTTAGTTTA	0.343000			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""									20			15		0	0	1	0	0
ACAA2	10449	broad.mit.edu	37	18	47310300	47310300	+	Splice_Site	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:47310300G>A	uc002ldw.4	-	10	1507	c.1110_splice	c.e10-1	p.R370_splice		NM_006111	NP_006102	P42765	THIM_HUMAN	Homo sapiens acetyl-CoA acyltransferase 2 (ACAA2), nuclear gene encoding mitochondrial protein, mRNA.	370					anti-apoptosis|cholesterol biosynthetic process		acetyl-CoA C-acyltransferase activity|protein binding			large_intestine(2)|lung(7)|ovary(1)	10						CCACCTCGACGCCTGAAAAAG	0.408000														18			9		0	0	1	0	0
STON2	85439	broad.mit.edu	37	14	81736941	81736941	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:81736941G>A	uc010tvu.2	-	4	2884	c.2686C>T	c.(2686-2688)Ctt>Ttt	p.L896F	STON2_uc001xvk.1_Intron|STON2_uc010tvt.2_Missense_Mutation_p.L693F	NM_033104	NP_149095	Q8WXE9	STON2_HUMAN	Homo sapiens stonin 2 (STON2), transcript variant 1, mRNA.	896					endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		ATGGCTAAAAGGAATAAGAGG	0.468000														49			30		0	0	1	0	0
C1orf35	79169	broad.mit.edu	37	1	228288868	228288868	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:228288868C>T	uc001hrx.3	-	7	850	c.756G>A	c.(754-756)ccG>ccA	p.P252P	C1orf35_uc009xew.3_Non-coding_Transcript	NM_024319	NP_077295	Q9BU76	MMTA2_HUMAN	Homo sapiens chromosome 1 open reading frame 35 (C1orf35), mRNA.	252										large_intestine(1)|lung(1)|skin(1)	3		Prostate(94;0.0488)				ACCTGCGAGACGGGCTCCTCC	0.632000														43			14		0	0	1	0	0
ABCC6P1	653190	broad.mit.edu	37	16	18602499	18602499	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:18602499C>T	uc002dfg.3	+	7	897	c.697C>T	c.(697-699)Cgg>Tgg	p.R233W	ABCC6P1_uc010vam.2_Missense_Mutation_p.R176W					Homo sapiens ATP-binding cassette, sub-family C, member 6 pseudogene 1 (ABCC6P1), non-coding RNA.																		GCCCTTCCTACGGCAAGAAGG	0.567000														37			18		0	0	1	0	0
TAF4	6874	broad.mit.edu	37	20	60575310	60575310	+	Splice_Site	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:60575310C>T	uc002ybs.3	-	11	2657	c.2657_splice	c.e11-1	p.G886_splice		NM_003185	NP_003176	O00268	TAF4_HUMAN	Homo sapiens TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa (TAF4), mRNA.	886					interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	MLL1 complex|cytoplasm|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			ATGTTTTTTACCTAAAGGTCA	0.353000														49			37		0	0	1	0	0
PDGFRA	5156	broad.mit.edu	37	4	55161339	55161339	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:55161339C>T	uc003han.4	+	22	3501	c.3170C>T	c.(3169-3171)tCc>tTc	p.S1057F	PDGFRA_uc003haa.3_Missense_Mutation_p.S817F	NM_006206	NP_006197	P16234	PGFRA_HUMAN	Homo sapiens platelet-derived growth factor receptor, alpha polypeptide (PDGFRA), mRNA.	1057	Ser-rich.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of DNA replication|positive regulation of cell migration|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	TCCAGCAGTTCCACCTTCATC	0.498000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)				47			31		0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228509327	228509327	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:228509327G>A	uc009xez.1	+	54	14829	c.14785G>A	c.(14785-14787)Gcc>Acc	p.A4929T	OBSCN_uc001hsn.3_Missense_Mutation_p.A4929T	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	4929	Ig-like 48.				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	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase 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)				AGATGTGCGAGCCCGCTGGCT	0.637000														21			18		0	0	1	0	0
SLC25A41	284427	broad.mit.edu	37	19	6427135	6427135	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:6427135G>A	uc010dus.3	-	5	1005	c.919C>T	c.(919-921)Cgc>Tgc	p.R307C	KHSRP_uc002mer.4_5'Flank|SLC25A41_uc010dut.3_Missense_Mutation_p.R169C	NM_173637	NP_775908	Q8N5S1	S2541_HUMAN	Homo sapiens solute carrier family 25, member 41 (SLC25A41), mRNA.	307					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			large_intestine(1)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	6						ATCCTGGTGCGCACCAGAGTC	0.632000														7			3		0	0	1	0	0
UHRF1BP1L	23074	broad.mit.edu	37	12	100433472	100433472	+	Missense_Mutation	SNP	G	A	A	rs142553294	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:100433472G>A	uc001tgq.3	-	19	4406	c.4177C>T	c.(4177-4179)Cgc>Tgc	p.R1393C	UHRF1BP1L_uc001tgp.3_Missense_Mutation_p.R1043C	NM_015054	NP_055869	A0JNW5	UH1BL_HUMAN	Homo sapiens UHRF1 binding protein 1-like (UHRF1BP1L), transcript variant 1, mRNA.	1393										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						GTGACACTGCGTTGTTTCTTC	0.453000														26			17		0	0	1	0	0
TRIOBP	11078	broad.mit.edu	37	22	38120281	38120281	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:38120281A>G	uc003atr.3	+	6	1989	c.1718A>G	c.(1717-1719)gAc>gGc	p.D573G	TRIOBP_uc003atu.3_Missense_Mutation_p.D401G|TRIOBP_uc003atq.1_Missense_Mutation_p.D573G|TRIOBP_uc003ats.1_Missense_Mutation_p.D401G	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	Homo sapiens TRIO and F-actin binding protein (TRIOBP), transcript variant 6, mRNA.	573					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	GTP-Rho binding|actin binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GCCACACGAGACAACCCCAGA	0.587000														74			12		0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40433710	40433710	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:40433710C>T	uc002omp.4	-	1	567	c.559G>A	c.(559-561)Gca>Aca	p.A187T		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	187	IgGFc-binding.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			ACATCGCCTGCTGGATAGAAC	0.567000														41			24		0	0	1	0	0
ARFIP1	27236	broad.mit.edu	37	4	153750877	153750877	+	Splice_Site	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:153750877G>T	uc003imz.3	+	2	369	c.93_splice	c.e2+1	p.R31_splice	ARFIP1_uc003inb.3_Splice_Site_p.R31_splice|ARFIP1_uc003ina.3_Splice_Site_p.R31_splice|ARFIP1_uc003inc.3_Splice_Site_p.R31_splice|ARFIP1_uc011cij.2_Splice_Site_p.R31_splice	NM_001025595	NP_001020766	P53367	ARFP1_HUMAN	Homo sapiens ADP-ribosylation factor interacting protein 1 (ARFIP1), transcript variant 1, mRNA.	31					intracellular protein transport|regulation of protein secretion	Golgi membrane|cytosol			ARFIP1/FHDC1(2)	cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	14	all_hematologic(180;0.093)					AGCTTTAATAGGGTAAGAACA	0.338000														80			8		5.18039e-06	5.80246e-06	1	1	0
PIGQ	9091	broad.mit.edu	37	16	624613	624613	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:624613G>A	uc002cho.3	+	1	677	c.539G>A	c.(538-540)cGc>cAc	p.R180H	PIGQ_uc010bqw.3_Missense_Mutation_p.R180H|PIGQ_uc002chm.3_Missense_Mutation_p.R180H|PIGQ_uc002chn.3_Missense_Mutation_p.R180H|PIGQ_uc010uui.2_Missense_Mutation_p.R194H	NM_148920	NP_683721	Q9BRB3	PIGQ_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class Q (PIGQ), transcript variant 1, mRNA.	180					C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(780;0.00335)				CGCAGTGACCGCTTTGATGAG	0.701000														11			3		0	0	1	0	0
GBF1	8729	broad.mit.edu	37	10	104136704	104136704	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:104136704A>C	uc001kux.2	+	32	4592	c.4298A>C	c.(4297-4299)cAg>cCg	p.Q1433P	GBF1_uc001kuy.2_Missense_Mutation_p.Q1433P|GBF1_uc001kuz.2_Missense_Mutation_p.Q1434P	NM_004193	NP_004184	Q92538	GBF1_HUMAN	Homo sapiens golgi brefeldin A resistant guanine nucleotide exchange factor 1 (GBF1), transcript variant 1, mRNA.	1433					COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		TGCAAGTCCCAGGAGAAACGT	0.517000														47			4		0	0	1	0	0
EXOC1	55763	broad.mit.edu	37	4	56759926	56759926	+	Missense_Mutation	SNP	A	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:56759926A>T	uc003hbe.1	+	14	2091	c.1933A>T	c.(1933-1935)Agg>Tgg	p.R645W	EXOC1_uc003hbf.1_Missense_Mutation_p.R645W|EXOC1_uc003hbg.1_Missense_Mutation_p.R630W	NM_018261	NP_060731	Q9NV70	EXOC1_HUMAN	Homo sapiens exocyst complex component 1 (EXOC1), transcript variant 1, mRNA.	645					exocytosis|protein transport	exocyst	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35	Glioma(25;0.08)|all_neural(26;0.101)					GACTGTCAAAAGGAACTTTGA	0.333000														51			8		0	0	1	0	0
ZNF280B	140883	broad.mit.edu	37	22	22842384	22842384	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:22842384T>C	uc002zwc.1	-	3	2116	c.1340A>G	c.(1339-1341)tAc>tGc	p.Y447C	abParts_uc021wml.1_Intron|abParts_uc021wmm.1_Intron|ZNF280B_uc021wmn.1_Missense_Mutation_p.Y447C	NM_080764	NP_542942	Q86YH2	Z280B_HUMAN	Homo sapiens zinc finger protein 280B (ZNF280B), mRNA.	447					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(2)	22	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		ATGACACATGTATGGTGTTGC	0.413000														75			52		0	0	1	0	0
RSPRY1	89970	broad.mit.edu	37	16	57247814	57247814	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:57247814G>T	uc002elb.3	+	5	936	c.658G>T	c.(658-660)Ggt>Tgt	p.G220C	RSPRY1_uc002elc.3_Missense_Mutation_p.G220C|RSPRY1_uc002eld.3_Missense_Mutation_p.G220C	NM_133368	NP_588609	Q96DX4	RSPRY_HUMAN	Homo sapiens ring finger and SPRY domain containing 1 (RSPRY1), mRNA.	220						extracellular region	zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3)	27						TGCAAGTATAGGTTTACTTAG	0.338000														105			12		7.93312e-07	9.03407e-07	1	1	0
KDM6A	7403	broad.mit.edu	37	X	44920633	44920633	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:44920633A>G	uc011mkz.2	+	14	1925	c.1550A>G	c.(1549-1551)cAt>cGt	p.H517R	KDM6A_uc022bvi.1_Missense_Mutation_p.H169R|KDM6A_uc010nhk.2_Missense_Mutation_p.H465R|KDM6A_uc004dge.4_Missense_Mutation_p.H465R|KDM6A_uc011mla.2_Missense_Mutation_p.H420R|KDM6A_uc011mlb.2_Missense_Mutation_p.H472R|KDM6A_uc011mlc.2_Missense_Mutation_p.H169R|KDM6A_uc022bvj.1_Missense_Mutation_p.H420R|KDM6A_uc022bvk.1_Non-coding_Transcript|KDM6A_uc011mld.2_Missense_Mutation_p.H138R	NM_021140	NP_066963	O15550	KDM6A_HUMAN	Homo sapiens lysine (K)-specific demethylase 6A (KDM6A), mRNA.	465					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)|p.0(2)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						CAACAAGCTCATTCATGGTGT	0.328000			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""									33			4		0	0	1	0	0
PSRC1	84722	broad.mit.edu	37	1	109824315	109824315	+	Missense_Mutation	SNP	G	A	A	rs116061288	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:109824315G>A	uc001dxj.3	-	3	591	c.445C>T	c.(445-447)Cgg>Tgg	p.R149W	PSRC1_uc001dxb.3_5'UTR|PSRC1_uc001dxc.3_Missense_Mutation_p.R149W|PSRC1_uc001dxd.3_Missense_Mutation_p.R149W|PSRC1_uc001dxf.3_Missense_Mutation_p.R149W	NM_032636	NP_116025	Q6PGN9	PSRC1_HUMAN	Homo sapiens proline/serine-rich coiled-coil 1 (PSRC1), transcript variant 1, mRNA.	149	4 X 4 AA repeats of P-X-X-P.				cell division|microtubule bundle formation|mitotic metaphase plate congression|negative regulation of cell growth|positive regulation of microtubule polymerization|positive regulation of transcription, DNA-dependent|regulation of mitotic spindle organization	cytosol|midbody|spindle pole	microtubule binding			endometrium(1)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	7		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0286)|Lung(183;0.0658)|COAD - Colon adenocarcinoma(174;0.112)|Epithelial(280;0.188)|all cancers(265;0.213)		TCATTACTCCGGAGTCGAGGC	0.577000														109			27		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13891148	13891148	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:13891148C>T	uc003jfd.2	-	16	2556	c.2514G>A	c.(2512-2514)acG>acA	p.T838T		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	838	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GACAAAGAGGCGTGCTGCTCA	0.408000									Kartagener syndrome					103			39		0	0	1	0	0
SLC16A4	9122	broad.mit.edu	37	1	110921953	110921953	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:110921953G>A	uc001dzo.2	-	5	802	c.552C>T	c.(550-552)atC>atT	p.I184I	SLC16A4_uc009wfs.2_Silent_p.I136I|SLC16A4_uc001dzp.2_Intron|SLC16A4_uc010ovy.2_Silent_p.I122I|SLC16A4_uc010ovz.2_Silent_p.I74I|SLC16A4_uc001dzq.2_Intron	NM_004696	NP_004687	O15374	MOT5_HUMAN	Homo sapiens solute carrier family 16, member 4 (monocarboxylic acid transporter 5) (SLC16A4), transcript variant 1, mRNA.	184						integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity			breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(2)|ovary(3)|prostate(1)|stomach(2)	16		all_cancers(81;0.000476)|all_epithelial(167;0.000401)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0251)|all cancers(265;0.0766)|Epithelial(280;0.0807)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.14)	Pyruvic acid(DB00119)	AATTCAATGCGATAGCTCCAA	0.378000														44			19		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179590617	179590617	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179590617G>A	uc021vsy.1	-	66	16925	c.16700C>T	c.(16699-16701)tCc>tTc	p.S5567F	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.S2228F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	6494	Ig-like 36.						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)			GAAGTTTTTGGATGCAATCTT	0.433000														19			22		0	0	1	0	0
SLC10A6	345274	broad.mit.edu	37	4	87745020	87745020	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:87745020G>A	uc003hqd.2	-	5	1103	c.955C>T	c.(955-957)Cat>Tat	p.H319Y		NM_197965	NP_932069	Q3KNW5	SOAT_HUMAN	Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 6 (SLC10A6), mRNA.	319						integral to membrane|plasma membrane	bile acid:sodium symporter activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	9		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.00099)		TTTTTTCCATGTTTGTTCTTC	0.398000														105			12		0	0	1	0	0
LRRC37BP1	147172	broad.mit.edu	37	17	28958955	28958955	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:28958955G>A	uc002hfl.3	+	2	370	c.139G>A	c.(139-141)Gca>Aca	p.A47T	LRRC37BP1_uc010csj.2_Intron|LRRC37BP1_uc010wbq.1_Intron|LRRC37BP1_uc010csi.2_Intron					Homo sapiens leucine rich repeat containing 37B pseudogene 1 (LRRC37BP1), non-coding RNA.																		TGTTAGCAGCGCACTAAGTTA	0.458000														105			73		0	0	1	0	0
LRP4	4038	broad.mit.edu	37	11	46920468	46920468	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:46920468G>A	uc001ndn.4	-	5	906	c.663C>T	c.(661-663)gaC>gaT	p.D221D	LRP4_uc009ylh.2_Silent_p.D172D	NM_002334	NP_002325	O75096	LRP4_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 4 (LRP4), mRNA.	221	LDL-receptor class A 5.				Wnt receptor signaling pathway|endocytosis|negative regulation of canonical Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		AGTCAGACTCGTCTGACCAGT	0.627000														12			13		0	0	1	0	0
LRAT	9227	broad.mit.edu	37	4	155665575	155665575	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:155665575G>T	uc003iom.1	+	0	424	c.97G>T	c.(97-99)Gac>Tac	p.D33Y	DQ266889_uc003iol.3_Intron|LRAT_uc003ion.1_Missense_Mutation_p.D33Y	NM_004744	NP_004735	O95237	LRAT_HUMAN	Homo sapiens lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase) (LRAT), mRNA.	33					response to stimulus|retinoid metabolic process|steroid metabolic process|visual perception	endoplasmic reticulum membrane|integral to membrane|multivesicular body|perinuclear region of cytoplasm|rough endoplasmic reticulum	phosphatidylcholine-retinol O-acyltransferase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)	16	all_hematologic(180;0.215)	Renal(120;0.0458)			Vitamin A(DB00162)	CGCGGGCGAAGACAAAGGGAG	0.562000														34			28		6.12954e-19	7.87599e-19	1	1	0
RNF103	7844	broad.mit.edu	37	2	86831491	86831491	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:86831491G>A	uc002srn.3	-	3	2524	c.1533C>T	c.(1531-1533)aaC>aaT	p.N511N	RNF103_uc010ytl.2_Intron|RNF103_uc002srm.3_Silent_p.N372N|RNF103_uc021vkg.1_Silent_p.N507N|BC066991_uc002sro.3_Intron	NM_005667	NP_005658	O00237	RN103_HUMAN	Homo sapiens ring finger protein 103 (RNF103), transcript variant 1, mRNA.	511					ER-associated protein catabolic process|central nervous system development	endoplasmic reticulum membrane|integral to membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2)	25						ACATTGGTAAGTTTTTAATAT	0.433000														103			75		0	0	1	0	0
RIN1	9610	broad.mit.edu	37	11	66102528	66102528	+	Missense_Mutation	SNP	G	A	A	rs141887009		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:66102528G>A	uc001ohn.1	-	5	869	c.742C>T	c.(742-744)Cgc>Tgc	p.R248C	RIN1_uc010roy.1_5'UTR|RIN1_uc009yrd.1_5'UTR|RIN1_uc010roz.1_Missense_Mutation_p.R143C|RIN1_uc010rpa.1_Missense_Mutation_p.R143C	NM_004292	NP_004283	Q13671	RIN1_HUMAN	Homo sapiens Ras and Rab interactor 1 (RIN1), mRNA.	248					endocytosis|signal transduction	cytoplasm|cytoskeleton|plasma membrane	GTPase activator activity|protein binding			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(1)	14						GTGGACACGCGCACTTTGAAG	0.667000														32			37		0	0	1	0	0
ZSCAN21	7589	broad.mit.edu	37	7	99654957	99654957	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:99654957C>T	uc003uso.3	+	1	472	c.328C>T	c.(328-330)Ccg>Tcg	p.P110S	ZSCAN21_uc011kje.1_Missense_Mutation_p.P109S|ZSCAN21_uc003usn.1_Missense_Mutation_p.P109S	NM_145914	NP_666019	Q9Y5A6	ZSC21_HUMAN	Homo sapiens zinc finger and SCAN domain containing 21 (ZSCAN21), mRNA.	110	SCAN box.				positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|skin(1)	21	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			GGAGCATTGCCCGGAGAGCGC	0.592000														25			7		0	0	1	0	0
PER3	8863	broad.mit.edu	37	1	7887365	7887365	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:7887365C>A	uc001aop.3	+	16	2600	c.2376C>A	c.(2374-2376)acC>acA	p.T792T	PER3_uc009vmg.1_Silent_p.T792T|PER3_uc009vmh.1_Silent_p.T785T|PER3_uc001aoo.3_Silent_p.T784T|PER3_uc010nzw.2_Silent_p.T473T	NM_016831	NP_058515	P56645	PER3_HUMAN	Homo sapiens period homolog 3 (Drosophila) (PER3), mRNA.	784	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		CGAGCCCGACCTTCCCACCTG	0.701000														21			11		0.00244969	0.00257145	1	1	0
SERINC3	10955	broad.mit.edu	37	20	43141617	43141617	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:43141617C>A	uc002xme.3	-	2	354	c.220G>T	c.(220-222)Ggg>Tgg	p.G74W	SERINC3_uc002xmf.1_Missense_Mutation_p.G74W|SERINC3_uc010ggs.1_Missense_Mutation_p.G67W|SERINC3_uc010zwp.1_Missense_Mutation_p.G19W	NM_198941	NP_945179	Q13530	SERC3_HUMAN	Homo sapiens serine incorporator 3 (SERINC3), transcript variant 2, mRNA.	74						integral to membrane|plasma membrane	protein binding			endometrium(4)|large_intestine(2)|lung(8)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(115;0.0122)	Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189)			TTAAATCCCCCTTCACAAAAT	0.393000														49			21		1.96292e-10	2.36921e-10	1	1	0
ASXL3	80816	broad.mit.edu	37	18	31325549	31325549	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:31325549G>A	uc010dmg.1	+	11	5792	c.5737G>A	c.(5737-5739)Gtt>Att	p.V1913I	ASXL3_uc002kxq.2_Missense_Mutation_p.V1620I	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA.	1913					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						CCTATTTCATGTTGACAAGAA	0.527000														82			30		0	0	1	0	0
LRP5	4041	broad.mit.edu	37	11	68193472	68193472	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:68193472G>A	uc001ont.3	+	15	3529	c.3454G>A	c.(3454-3456)Gcc>Acc	p.A1152T	LRP5_uc009ysg.3_Missense_Mutation_p.A562T	NM_002335	NP_002326	O75197	LRP5_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 5 (LRP5), mRNA.	1152	Beta-propeller 4.				Wnt receptor signaling pathway involved in dorsal/ventral axis specification|adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity	p.D1151D(1)		autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CCTGGAGGACGCCAACATCGT	0.637000														38			29		0	0	1	0	0
EIF2S3	1968	broad.mit.edu	37	X	24084146	24084146	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:24084146C>A	uc004dbc.3	+	7	825	c.804C>A	c.(802-804)ggC>ggA	p.G268G		NM_001415	NP_001406	P41091	IF2G_HUMAN	Homo sapiens eukaryotic translation initiation factor 2, subunit 3 gamma, 52kDa (EIF2S3), mRNA.	268						cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity			breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(1)	12						ACAAACCTGGCTGTGAAGTTG	0.313000														196			9		2.17888e-05	2.40634e-05	1	1	0
IFNA8	3445	broad.mit.edu	37	9	21409185	21409185	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:21409185A>C	uc003zpc.1	+	0	40	c.10A>C	c.(10-12)Act>Cct	p.T4P		NM_002170	NP_002161	P32881	IFNA8_HUMAN	Homo sapiens interferon, alpha 8 (IFNA8), mRNA.	4					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	9				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0174)		AATGGCCTTGACTTTTTATTT	0.498000														64			5		0	0	1	0	0
CCL26	10344	broad.mit.edu	37	7	75401213	75401213	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:75401213G>A	uc003udt.1	-	2	290	c.182C>T	c.(181-183)gCt>gTt	p.A61V		NM_006072	NP_006063	Q9Y258	CCL26_HUMAN	Homo sapiens chemokine (C-C motif) ligand 26 (CCL26), mRNA.	61					cell-cell signaling|chemotaxis|immune response|inflammatory response|positive regulation of Rac GTPase activity|positive regulation of actin filament polymerization|positive regulation of cell migration|positive regulation of endothelial cell proliferation|signal transduction	extracellular space	chemokine activity			lung(3)	3						TCACATCACAGCCCGCTGGGA	0.562000														83			7		0	0	1	0	0
TMEM98	26022	broad.mit.edu	37	17	31267806	31267806	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:31267806C>T	uc002hhq.3	+	7	934	c.476C>T	c.(475-477)aCg>aTg	p.T159M	TMEM98_uc002hhr.3_Missense_Mutation_p.T159M	NM_015544	NP_056359	Q9Y2Y6	TMM98_HUMAN	Homo sapiens transmembrane protein 98 (TMEM98), transcript variant 1, mRNA.	159						endoplasmic reticulum|integral to membrane				kidney(2)|large_intestine(1)	3		Ovarian(249;0.182)|Breast(31;0.244)	BRCA - Breast invasive adenocarcinoma(9;0.0769)			TTCCCTAGGACGACTGCCCTG	0.498000														85			35		0	0	1	0	0
ULK2	9706	broad.mit.edu	37	17	19679690	19679690	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:19679690G>A	uc002gwm.4	-	26	3592	c.3083C>T	c.(3082-3084)gCg>gTg	p.A1028V	ULK2_uc002gwn.3_Missense_Mutation_p.A1028V	NM_001142610	NP_055498	Q8IYT8	ULK2_HUMAN	Homo sapiens unc-51-like kinase 2 (C. elegans) (ULK2), transcript variant 2, mRNA.	1028					signal transduction		ATP binding|protein binding|protein serine/threonine kinase activity			large_intestine(1)|skin(4)|stomach(1)	6	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)					ATGGCAGAGCGCCGACAGTCT	0.428000														3			4		0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10470542	10470542	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:10470542C>A	uc003wtc.3	-	3	1295	c.1066G>T	c.(1066-1068)Gac>Tac	p.D356Y		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	356					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		AGAACGGGGTCTTCCCCACTG	0.682000														63			31		1.88708e-17	2.40588e-17	1	1	0
USP7	7874	broad.mit.edu	37	16	8988700	8988700	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:8988700G>A	uc002czl.2	-	28	3251	c.3052C>T	c.(3052-3054)Cga>Tga	p.R1018*	USP7_uc010uyj.1_Nonsense_Mutation_p.R919*|USP7_uc002czk.2_Nonsense_Mutation_p.R1002*	NM_003470	NP_003461	Q93009	UBP7_HUMAN	Homo sapiens ubiquitin specific peptidase 7 (herpes virus-associated) (USP7), mRNA.	1018					interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	PML body|cytoplasm	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						ATCACTTCTCGAAAATGCTCG	0.592000														58			42		0	0	1	0	0
SLC45A1	50651	broad.mit.edu	37	1	8390529	8390529	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:8390529C>A	uc001apb.3	+	3	976	c.976C>A	c.(976-978)Ctc>Atc	p.L326I	SLC45A1_uc001apc.3_Missense_Mutation_p.L24I	NM_001080397	NP_001073866	Q9Y2W3	S45A1_HUMAN	Homo sapiens solute carrier family 45, member 1 (SLC45A1), mRNA.	326					carbohydrate transport	integral to membrane	symporter activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		TGGCGACAGCCTCCCGTCGCA	0.706000														8			5		0.00198382	0.00208369	1	1	0
PNPLA6	10908	broad.mit.edu	37	19	7621421	7621421	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:7621421G>T	uc010xjq.2	+	26	3446	c.3206G>T	c.(3205-3207)aGc>aTc	p.S1069I	PNPLA6_uc002mgq.2_Missense_Mutation_p.S1021I|PNPLA6_uc010xjp.2_Missense_Mutation_p.S994I|PNPLA6_uc002mgr.2_Missense_Mutation_p.S1021I|PNPLA6_uc002mgs.3_Missense_Mutation_p.S1059I	NM_001166111	NP_001159583	Q8IY17	PLPL6_HUMAN	Homo sapiens patatin-like phospholipase domain containing 6 (PNPLA6), transcript variant 1, mRNA.	1060	Patatin.				cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						TTTAACCGCAGCATCCATCGG	0.617000														87			6		0.000157383	0.000170012	1	1	0
MIA3	375056	broad.mit.edu	37	1	222805573	222805573	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:222805573C>A	uc001hnl.3	+	4	3245	c.3236C>A	c.(3235-3237)cCt>cAt	p.P1079H	MIA3_uc009xea.1_Missense_Mutation_p.P915H	NM_198551	NP_940953	Q5JRA6	MIA3_HUMAN	Homo sapiens melanoma inhibitory activity family, member 3 (MIA3), mRNA.	1079					exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding	p.V1078A(1)		breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		GTGCAGGTTCCTGAAGAACCC	0.483000														114			14		1.05317e-09	1.25904e-09	1	1	0
NCDN	23154	broad.mit.edu	37	1	36028226	36028226	+	Silent	SNP	C	T	T	rs146734510		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:36028226C>T	uc001bza.3	+	4	1504	c.1377C>T	c.(1375-1377)gaC>gaT	p.D459D	NCDN_uc001bzb.3_Silent_p.D459D|NCDN_uc001bzc.3_Silent_p.D442D	NM_001014839	NP_001014841	Q9UBB6	NCDN_HUMAN	Homo sapiens neurochondrin (NCDN), transcript variant 1, mRNA.	459					neuron projection development	cytosol|dendrite|neuronal cell body				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GGCCAGGAGACGCTCTCCGGT	0.597000														11			8		0	0	1	0	0
FBXW5	54461	broad.mit.edu	37	9	139835906	139835906	+	Silent	SNP	G	A	A	rs112814747		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:139835906G>A	uc004cjx.3	-	7	1438	c.1254C>T	c.(1252-1254)taC>taT	p.Y418Y	FBXW5_uc010nbx.3_Non-coding_Transcript|FBXW5_uc004cjy.3_Silent_p.Y166Y|FBXW5_uc004cjz.3_Silent_p.Y148Y	NM_018998	NP_061871	Q969U6	FBXW5_HUMAN	Homo sapiens F-box and WD repeat domain containing 5 (FBXW5), mRNA.	418							catalytic activity|protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106)		GGCTGTTCACGTACAGGTACC	0.682000														21			9		0	0	1	0	0
SACS	26278	broad.mit.edu	37	13	23912410	23912410	+	Nonsense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:23912410C>A	uc001uon.2	-	9	6194	c.5605G>T	c.(5605-5607)Gag>Tag	p.E1869*	SACS_uc001uoo.2_Nonsense_Mutation_p.E1722*|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA.	1869					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|Hsp70 protein binding|chaperone binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CAAAACACCTCTCCAATGTGT	0.433000														74			7		0.0293803	0.0299714	1	1	0
BAIAP2L1	55971	broad.mit.edu	37	7	97949586	97949586	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:97949586C>T	uc003upj.3	-	3	502	c.239G>A	c.(238-240)aGt>aAt	p.S80N		NM_018842	NP_061330	Q9UHR4	BI2L1_HUMAN	Homo sapiens BAI1-associated protein 2-like 1 (BAIAP2L1), mRNA.	80	IMD.				filopodium assembly|positive regulation of actin cytoskeleton reorganization|positive regulation of actin filament polymerization|response to bacterium|signal transduction	cell junction|cytoskeleton|cytosol|nucleus	SH3 domain binding|actin binding|cytoskeletal adaptor activity|proline-rich region binding			NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)	23	all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126)		STAD - Stomach adenocarcinoma(171;0.215)			CTTGTGGGTACTTGAAATCTC	0.363000														20			28		0	0	1	0	0
IRS4	8471	broad.mit.edu	37	X	107977146	107977146	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:107977146G>T	uc004eoc.2	-	0	2462	c.2429C>A	c.(2428-2430)tCt>tAt	p.S810Y		NM_003604	NP_003595	O14654	IRS4_HUMAN	Homo sapiens insulin receptor substrate 4 (IRS4), mRNA.	810						plasma membrane	SH3/SH2 adaptor activity|insulin receptor binding|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						GTTTGGTAGAGAGAAGTAGGA	0.493000														282			20		2.4624e-09	2.92908e-09	1	1	0
PBLD	64081	broad.mit.edu	37	10	70056658	70056658	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:70056658C>A	uc001jns.1	-	2	372	c.169G>T	c.(169-171)Gac>Tac	p.D57Y	PBLD_uc001jnr.1_Missense_Mutation_p.D24Y|PBLD_uc001jnt.1_Missense_Mutation_p.D57Y|PBLD_uc001jnu.1_Missense_Mutation_p.D57Y|PBLD_uc001jnv.1_Missense_Mutation_p.D57Y	NM_022129	NP_071412	P30039	PBLD_HUMAN	Homo sapiens phenazine biosynthesis-like protein domain containing (PBLD), transcript variant 1, mRNA.	57					biosynthetic process		isomerase activity			endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21						GCAAAGTTGTCTGTCGGGTGC	0.413000														137			8		5.4927e-09	6.49148e-09	1	1	0
FAM179B	23116	broad.mit.edu	37	14	45535897	45535897	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:45535897G>A	uc001wvw.3	+	16	4885	c.4676G>A	c.(4675-4677)cGt>cAt	p.R1559H	FAM179B_uc001wvv.3_Missense_Mutation_p.R1506H|FAM179B_uc010anc.3_Non-coding_Transcript	NM_015091	NP_055906	Q9Y4F4	F179B_HUMAN	Homo sapiens family with sequence similarity 179, member B (FAM179B), mRNA.	1506							binding			endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						TTTCGTGATCGTATTAATGGG	0.348000														48			25		0	0	1	0	0
PRTG	283659	broad.mit.edu	37	15	55919209	55919209	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:55919209G>A	uc002adg.3	-	16	2972	c.2924C>T	c.(2923-2925)gCc>gTc	p.A975V		NM_173814	NP_776175	Q2VWP7	PRTG_HUMAN	Homo sapiens protogenin (PRTG), mRNA.	975					multicellular organismal development	integral to membrane				breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		AACACACCTGGCTTTACTTCG	0.418000														33			24		0	0	1	0	0
A2ML1	144568	broad.mit.edu	37	12	9013818	9013818	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:9013818A>G	uc001quz.4	+	27	3525	c.3427A>G	c.(3427-3429)Att>Gtt	p.I1143V	A2ML1_uc001qva.1_Missense_Mutation_p.I723V|A2ML1_uc010sgm.2_Missense_Mutation_p.I643V	NM_144670	NP_653271	B3KVV6	B3KVV6_HUMAN	Homo sapiens alpha-2-macroglobulin-like 1 (A2ML1), mRNA.	987						extracellular space	endopeptidase inhibitor activity			NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						GTTGGCTTACATTTTCTCCCT	0.478000														105			12		0	0	1	0	0
KRBOX1	100506243	broad.mit.edu	37	3	42982787	42982787	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:42982787G>A	uc003cmm.4	+	2	266	c.106G>A	c.(106-108)Gag>Aag	p.E36K	KRBOX1_uc003cmn.4_Missense_Mutation_p.E35K	NM_001205272	NP_001192201	C9JBD0	KRBX1_HUMAN	Homo sapiens KRAB box domain containing 1 (KRBOX1), mRNA.	36	KRAB.				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding	p.A35A(2)		lung(2)	2						GGTGCCTGCCGAGAGGGCCTT	0.537000														4			3		0	0	1	0	0
TTC3	7267	broad.mit.edu	37	21	38569870	38569870	+	Splice_Site	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:38569870G>T	uc002yvz.3	+	43	5685	c.5580_splice	c.e43-1	p.S1860_splice	TTC3_uc002ywa.3_Splice_Site_p.S1860_splice|TTC3_uc002ywb.3_Splice_Site_p.S1860_splice|TTC3_uc010gnf.3_Splice_Site_p.S1625_splice|TTC3_uc002ywc.3_Splice_Site_p.S1550_splice	NM_001001894	NP_003307	P53804	TTC3_HUMAN	Homo sapiens tetratricopeptide repeat domain 3 (TTC3), transcript variant 2, mRNA.	1860					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				CTCCCTTTCAGCACTGAGCTT	0.378000														44			20		4.63292e-17	5.89218e-17	1	1	0
PCK1	5105	broad.mit.edu	37	20	56137900	56137900	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:56137900C>T	uc002xyn.4	+	3	718	c.555C>T	c.(553-555)ggC>ggT	p.G185G	PCK1_uc010zzm.2_Intron	NM_002591	NP_002582	P35558	PCKGC_HUMAN	Homo sapiens phosphoenolpyruvate carboxykinase 1 (soluble) (PCK1), mRNA.	185					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	GTP binding|carboxylic acid binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			AAGCAGTGGGCGATGGGGAGT	0.502000														25			9		0	0	1	0	0
SLC39A6	25800	broad.mit.edu	37	18	33704581	33704581	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:33704581C>T	uc010dmy.3	-	2	1162	c.872G>A	c.(871-873)tGt>tAt	p.C291Y	SLC39A6_uc002kzj.2_Missense_Mutation_p.C16Y	NM_012319	NP_001092876	Q13433	S39A6_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 6 (SLC39A6), transcript variant 1, mRNA.	291						integral to membrane|lamellipodium membrane	zinc ion transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	41						GATGGCTGGACAGAGATAGTT	0.413000														50			38		0	0	1	0	0
ZC3H12C	85463	broad.mit.edu	37	11	110035300	110035300	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:110035300C>T	uc010rwc.2	+	5	1493	c.1493C>T	c.(1492-1494)aCa>aTa	p.T498I	ZC3H12C_uc009yxw.3_Missense_Mutation_p.T497I|ZC3H12C_uc010rwd.2_Missense_Mutation_p.T498I|ZC3H12C_uc001pkr.4_Missense_Mutation_p.T466I	NM_033390	NP_203748	Q9C0D7	ZC12C_HUMAN	Homo sapiens zinc finger CCCH-type containing 12C (ZC3H12C), mRNA.	497							endonuclease activity|nucleic acid binding|zinc ion binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)		AGCATAAGGACACAAGTCTAC	0.453000														60			7		0	0	1	0	0
PLCH2	9651	broad.mit.edu	37	1	2411398	2411398	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:2411398G>A	uc001aji.1	+	2	771	c.497G>A	c.(496-498)cGc>cAc	p.R166H	PLCH2_uc010nyz.2_5'Flank|PLCH2_uc009vle.1_5'Flank|PLCH2_uc001ajj.1_5'Flank|PLCH2_uc001ajk.1_5'Flank	NM_014638	NP_055453	O75038	PLCH2_HUMAN	Homo sapiens phospholipase C, eta 2 (PLCH2), mRNA.	166					intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		CTGGCTCGCCGCCAGCGCACC	0.687000														23			17		0	0	1	0	0
IPO4	79711	broad.mit.edu	37	14	24656974	24656974	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:24656974G>A	uc001wmv.1	-	4	1328	c.307C>T	c.(307-309)Ctc>Ttc	p.L103F	IPO4_uc001wmu.2_5'UTR|IPO4_uc001wmw.1_Non-coding_Transcript|IPO4_uc010tnz.1_Non-coding_Transcript|IPO4_uc001wmx.1_5'UTR|IPO4_uc001wmy.1_5'UTR|IPO4_uc001wmz.2_Missense_Mutation_p.L103F	NM_024658	NP_078934	Q8TEX9	IPO4_HUMAN	Homo sapiens importin 4 (IPO4), mRNA.	103					intracellular protein transport	cytoplasm|nucleus	protein binding|protein transporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		GTGGCTGAGAGCTGGGCCAGG	0.572000														31			17		0	0	1	0	0
CD180	4064	broad.mit.edu	37	5	66478853	66478853	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:66478853C>T	uc003juy.2	-	2	1966	c.1818G>A	c.(1816-1818)acG>acA	p.T606T		NM_005582	NP_005573	Q99467	CD180_HUMAN	Homo sapiens CD180 molecule (CD180), mRNA.	606	LRRCT.				inflammatory response|innate immune response	integral to membrane|plasma membrane	receptor activity			cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2)	34		Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234)		Lung(70;0.0046)		GGTTTGCACACGTGGTCTCCT	0.428000														54			27		0	0	1	0	0
LARP4	113251	broad.mit.edu	37	12	50867246	50867246	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:50867246A>G	uc001rwp.2	+	13	1796	c.1594A>G	c.(1594-1596)Aca>Gca	p.T532A	LARP4_uc001rwq.2_Missense_Mutation_p.T461A|LARP4_uc001rwt.2_Missense_Mutation_p.T390A|LARP4_uc001rws.2_Missense_Mutation_p.T531A|LARP4_uc001rwr.2_Missense_Mutation_p.T461A|LARP4_uc021qxv.1_Missense_Mutation_p.T462A|LARP4_uc009zlr.1_Missense_Mutation_p.T351A	NM_052879	NP_443111	Q71RC2	LARP4_HUMAN	Homo sapiens La ribonucleoprotein domain family, member 4 (LARP4), transcript variant 1, mRNA.	532							RNA binding|nucleotide binding			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						AGATGAGCAGACAGAATGCAC	0.383000														49			5		0	0	1	0	0
FANCA	2175	broad.mit.edu	37	16	89816211	89816211	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:89816211G>A	uc002fou.1	-	31	3208	c.3166C>T	c.(3166-3168)Ctc>Ttc	p.L1056F	FANCA_uc010vpn.1_Missense_Mutation_p.L1056F|FANCA_uc010vpo.2_Missense_Mutation_p.L142F	NM_000135	NP_000126	O15360	FANCA_HUMAN	Homo sapiens Fanconi anemia, complementation group A (FANCA), transcript variant 1, mRNA.	1056					DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding			breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		AGAGCCTGGAGCCGTCTGCGG	0.587000			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia					40			7		0	0	1	0	0
DUSP14	11072	broad.mit.edu	37	17	35872424	35872424	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:35872424G>A	uc002hnx.2	+	2	344	c.50G>A	c.(49-51)cGg>cAg	p.R17Q	DUSP14_uc002hnz.2_Missense_Mutation_p.R4Q|DUSP14_uc021tvt.1_Missense_Mutation_p.R17Q	NM_007026	NP_008957	O95147	DUS14_HUMAN	Homo sapiens dual specificity phosphatase 14 (DUSP14), mRNA.	17							MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|urinary_tract(1)	9		Breast(25;0.00637)|Ovarian(249;0.15)				ATGGCCCCTCGGATGATTTCC	0.567000														32			3		0	0	1	0	0
GLG1	2734	broad.mit.edu	37	16	74490600	74490600	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:74490600C>T	uc002fcx.3	-	24	3369	c.3319G>A	c.(3319-3321)Gag>Aag	p.E1107K	GLG1_uc002fcw.4_Missense_Mutation_p.E1096K|GLG1_uc002fcy.4_Missense_Mutation_p.E1107K|GLG1_uc002fcz.4_Missense_Mutation_p.E524K	NM_012201	NP_036333	Q92896	GSLG1_HUMAN	Homo sapiens golgi glycoprotein 1 (GLG1), transcript variant 1, mRNA.	1107						Golgi membrane|integral to membrane	receptor binding	p.E1107K(2)|p.P1106P(1)		breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						TTTTTGCACTCGGGCTGTAAC	0.418000														66			52		0	0	1	0	0
PRRX1	5396	broad.mit.edu	37	1	170695481	170695481	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:170695481G>A	uc001ghf.3	+	2	585	c.538G>A	c.(538-540)Gta>Ata	p.V180I	PRRX1_uc001ghe.3_Missense_Mutation_p.V180I	NM_022716	NP_073207	P54821	PRRX1_HUMAN	Homo sapiens paired related homeobox 1 (PRRX1), transcript variant pmx-1b, mRNA.	180						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	p.V180I(2)		large_intestine(2)|ovary(1)	3	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GCAGCCCATCGTACCTCGTCC	0.562000														42			20		0	0	1	0	0
ABCB4	5244	broad.mit.edu	37	7	87043000	87043000	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:87043000C>T	uc003uiv.1	-	21	2792	c.2716G>A	c.(2716-2718)Gtt>Att	p.V906I	ABCB4_uc003uiw.1_Missense_Mutation_p.V906I|ABCB4_uc003uix.1_Missense_Mutation_p.V906I	NM_018849	NP_061337	P21439	MDR3_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 4 (ABCB4), transcript variant B, mRNA.	906	ABC transmembrane type-1 2.				cellular lipid metabolic process	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					AAAGACACAACTGTCCTAATA	0.343000														65			42		0	0	1	0	0
HTRA4	203100	broad.mit.edu	37	8	38832617	38832617	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:38832617G>A	uc003xmj.3	+	1	649	c.534G>A	c.(532-534)gcG>gcA	p.A178A		NM_153692	NP_710159	P83105	HTRA4_HUMAN	Homo sapiens HtrA serine peptidase 4 (HTRA4), mRNA.	178					proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity	p.A178V(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)	11		all_lung(54;0.0344)|Hepatocellular(245;0.0512)|Lung NSC(58;0.0955)	LUSC - Lung squamous cell carcinoma(45;1.5e-07)			AGAAGGTGGCGCCATCGGTGG	0.577000														94			50		0	0	1	0	0
TK2	7084	broad.mit.edu	37	16	66575796	66575796	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:66575796C>T	uc002eos.3	-	2	568	c.217G>A	c.(217-219)Gcg>Acg	p.A73T	TK2_uc010vip.2_5'UTR|TK2_uc002eor.3_Missense_Mutation_p.A42T|TK2_uc010cdq.3_Missense_Mutation_p.A42T|TK2_uc010viq.2_Missense_Mutation_p.A73T|TK2_uc010vir.2_Intron|TK2_uc010cdr.3_Missense_Mutation_p.A24T	NM_004614	NP_004605	O00142	KITM_HUMAN	Homo sapiens thymidine kinase 2, mitochondrial (TK2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	73					pyrimidine base metabolic process|pyrimidine nucleoside salvage	mitochondrial matrix	ATP binding|phosphotransferase activity, alcohol group as acceptor|thymidine kinase activity			large_intestine(1)|lung(2)|urinary_tract(1)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0736)|Epithelial(162;0.237)		ACGTCTGTCGCGTTGGAGAAG	0.473000														46			27		0	0	1	0	0
SUPT6H	6830	broad.mit.edu	37	17	27027530	27027530	+	Splice_Site	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:27027530C>T	uc010crt.3	+	36	4998	c.4806_splice	c.e36+1	p.H1602_splice	SUPT6H_uc002hby.3_Splice_Site_p.H1602_splice	NM_003170	NP_003161	Q7KZ85	SPT6H_HUMAN	Homo sapiens suppressor of Ty 6 homolog (S. cerevisiae) (SUPT6H), mRNA.	1602					chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	RNA binding|hydrolase activity, acting on ester bonds|sequence-specific DNA binding transcription factor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					GTGCTTACCACGTATGTGGCT	0.642000														76			6		0	0	1	0	0
OR2G3	81469	broad.mit.edu	37	1	247769147	247769147	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:247769147G>T	uc010pyz.2	+	0	260	c.260G>T	c.(259-261)aGa>aTa	p.R87I		NM_001001914	NP_001001914	Q8NGZ4	OR2G3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 3 (OR2G3), mRNA.	87					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R87G(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			AACTTGCAAAGACCAAAGAAG	0.468000														311			27		1.5548e-18	1.99422e-18	1	1	0
CDAN1	146059	broad.mit.edu	37	15	43023821	43023821	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:43023821C>T	uc001zql.3	-	10	1853	c.1736G>A	c.(1735-1737)aGc>aAc	p.S579N	CDAN1_uc001zqj.3_5'Flank|CDAN1_uc001zqk.3_5'UTR	NM_138477	NP_612486	Q8IWY9	CDAN1_HUMAN	Homo sapiens congenital dyserythropoietic anemia, type I (CDAN1), mRNA.	579						integral to membrane	protein binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		AGCCTACCTGCTGGCACTAAG	0.577000														49			28		0	0	1	0	0
ZMYM3	9203	broad.mit.edu	37	X	70465908	70465908	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:70465908C>T	uc004dzh.2	-	15	2792	c.2613G>A	c.(2611-2613)gtG>gtA	p.V871V	BCYRN1_uc011mpt.1_Intron|ZMYM3_uc004dzi.2_Silent_p.V871V|ZMYM3_uc004dzj.2_Silent_p.V859V	NM_201599	NP_963893	Q14202	ZMYM3_HUMAN	Homo sapiens zinc finger, MYM-type 3 (ZMYM3), transcript variant 1, mRNA.	871					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					CGAAGATGGGCACTGGGATGG	0.577000														72			20		0	0	1	0	0
PDCD1LG2	80380	broad.mit.edu	37	9	5534953	5534953	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:5534953C>T	uc011lmc.2	+	2	537	c.264C>T	c.(262-264)caC>caT	p.H88H	PLGRKT_uc003zjd.3_Intron|PDCD1LG2_uc003zjg.4_Silent_p.H88H|PDCD1LG2_uc011lmd.2_Silent_p.H88H|PDCD1LG2_uc010mhp.1_Silent_p.H88H|PDCD1LG2_uc010mho.1_Silent_p.H88H	NM_025239	NP_079515	Q9BQ51	PD1L2_HUMAN	Homo sapiens programmed cell death 1 ligand 2 (PDCD1LG2), mRNA.	88	Ig-like V-type.				T cell costimulation|immune response	endomembrane system|extracellular region|integral to membrane|plasma membrane	receptor activity			large_intestine(2)|lung(4)|prostate(2)	8	all_hematologic(13;0.158)	Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000767)|Lung(218;0.112)		CCTCGTTCCACATACCTCAAG	0.507000														33			6		0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57532252	57532252	+	Silent	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57532252T>G	uc001snd.3	+	1	544	c.78T>G	c.(76-78)acT>acG	p.T26T	LRP1_uc010sre.2_Silent_p.T26T|LRP1_uc001snb.3_Silent_p.T26T|LRP1_uc001snc.1_Silent_p.T26T	NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	26	LDL-receptor class A 1.				aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CCCCTAAGACTTGCAGCCCCA	0.532000														109			8		0	0	1	0	0
PTPRH	5794	broad.mit.edu	37	19	55693505	55693505	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:55693505C>T	uc002qjq.3	-	18	3150	c.3077G>A	c.(3076-3078)cGc>cAc	p.R1026H	PTPRH_uc010esv.3_Missense_Mutation_p.R848H|SYT5_uc002qjm.1_5'Flank|SYT5_uc002qjp.2_5'Flank|SYT5_uc002qjn.1_5'Flank|SYT5_uc002qjo.1_5'Flank	NM_002842	NP_002833	Q9HD43	PTPRH_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, H (PTPRH), transcript variant 1, mRNA.	1026	Tyrosine-protein phosphatase.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		GGTTCCTGTGCGACCCACGCC	0.597000														51			15		0	0	1	0	0
TUBD1	51174	broad.mit.edu	37	17	57941091	57941091	+	Missense_Mutation	SNP	T	G	G	rs76302921		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:57941091T>G	uc002ixw.2	-	7	1481	c.1193A>C	c.(1192-1194)aAc>aCc	p.N398T	TUBD1_uc010wok.2_Intron|TUBD1_uc010ddf.2_Missense_Mutation_p.N296T|TUBD1_uc010wol.2_Missense_Mutation_p.N182T|TUBD1_uc010ddg.2_Missense_Mutation_p.N363T|TUBD1_uc010ddi.2_Missense_Mutation_p.N144T|TUBD1_uc010ddh.2_Missense_Mutation_p.N224T|TUBD1_uc002ixx.2_Missense_Mutation_p.N343T	NM_016261	NP_001180542	Q9UJT1	TBD_HUMAN	Homo sapiens tubulin, delta 1 (TUBD1), transcript variant 1, mRNA.	398				N -> D (in Ref. 3; BAB14825).	cell differentiation|microtubule-based movement|multicellular organismal development|protein polymerization|spermatogenesis	centriole|microtubule|nucleus	GTP binding|GTPase activity|structural molecule activity			NS(2)|breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(2)	21	all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;9.34e-13)|all cancers(12;1.91e-11)			GAACTGGCTGTTGCTGACCAA	0.398000														62			38		0	0	1	0	0
CHM	1121	broad.mit.edu	37	X	85218762	85218762	+	Nonsense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:85218762C>A	uc004eet.3	-	4	640	c.610G>T	c.(610-612)Gaa>Taa	p.E204*	CHM_uc011mqz.2_Nonsense_Mutation_p.E56*	NM_000390	NP_000381	P24386	RAE1_HUMAN	Homo sapiens choroideremia (Rab escort protein 1) (CHM), transcript variant 1, mRNA.	204					intracellular protein transport|protein geranylgeranylation|response to stimulus|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|prostate(1)	20		all_lung(315;5.41e-06)				GTGGTATCTTCTGCTATAGGC	0.358000														97			7		0.000157383	0.000170012	1	1	0
VAV2	7410	broad.mit.edu	37	9	136661642	136661642	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:136661642C>T	uc004ces.3	-	10	987	c.941G>A	c.(940-942)tGc>tAc	p.C314Y	VAV2_uc004cer.3_Missense_Mutation_p.C309Y	NM_001134398	NP_001127870	P52735	VAV2_HUMAN	Homo sapiens vav 2 guanine nucleotide exchange factor (VAV2), transcript variant 1, mRNA.	314	DH.				angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|metal ion binding			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		CTTCAGTGTGCACTCCTGGGA	0.607000														11			8		0	0	1	0	0
VEZT	55591	broad.mit.edu	37	12	95650977	95650977	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:95650977T>C	uc001tdz.2	+	2	325	c.220T>C	c.(220-222)Tct>Cct	p.S74P	VEZT_uc001tds.3_Missense_Mutation_p.S26P|VEZT_uc001tdv.3_Missense_Mutation_p.S43P|VEZT_uc009zsy.1_Intron|VEZT_uc001tdr.2_Intron|VEZT_uc001tdt.2_Missense_Mutation_p.S26P|VEZT_uc009zsz.1_Missense_Mutation_p.S74P|VEZT_uc001tdw.1_Missense_Mutation_p.S26P|VEZT_uc009zta.1_Missense_Mutation_p.S26P	NM_017599	NP_060069	Q9HBM0	VEZA_HUMAN	Homo sapiens vezatin, adherens junctions transmembrane protein (VEZT), transcript variant 1, mRNA.	74						acrosomal vesicle|adherens junction|integral to membrane|nucleus				endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1)	23						GATTTTTTTTTCTCAGTGCAA	0.343000														11			6		0	0	1	0	0
AHCTF1	25909	broad.mit.edu	37	1	247013360	247013360	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:247013360G>T	uc001ibv.2	-	32	6072	c.5975C>A	c.(5974-5976)tCt>tAt	p.S1992Y	AHCTF1_uc009xgs.1_Missense_Mutation_p.S844Y|AHCTF1_uc001ibw.1_Non-coding_Transcript	NM_015446	NP_056261	Q8WYP5	ELYS_HUMAN	Homo sapiens AT hook containing transcription factor 1 (AHCTF1), mRNA.	1983	Necessary for nuclear localization (By similarity).				cytokinesis|mRNA transport|mitotic prometaphase|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			TACATCTTCAGATGGATTGAT	0.418000														66			63		1.40369e-38	1.86439e-38	1	1	0
GPBP1L1	60313	broad.mit.edu	37	1	46099832	46099832	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:46099832C>T	uc001coq.3	-	8	2182	c.821G>A	c.(820-822)aGt>aAt	p.S274N	GPBP1L1_uc001coo.3_Missense_Mutation_p.S18N	NM_021639	NP_067652	Q9HC44	GPBL1_HUMAN	Homo sapiens GC-rich promoter binding protein 1-like 1 (GPBP1L1), mRNA.	274					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding		GPBP1L1/MAST2_ENST00000361297(2)	breast(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|stomach(1)	21	Acute lymphoblastic leukemia(166;0.155)					AGAGATTGGACTGGTAAAAGC	0.483000														41			28		0	0	1	0	0
PPP1R9A	55607	broad.mit.edu	37	7	94915620	94915620	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:94915620G>T	uc003unp.3	+	12	3142	c.2860G>T	c.(2860-2862)Gca>Tca	p.A954S	PPP1R9A_uc010lfj.3_Missense_Mutation_p.A1238S|PPP1R9A_uc011kif.2_Missense_Mutation_p.A1160S|PPP1R9A_uc003unq.3_Missense_Mutation_p.A1178S|PPP1R9A_uc011kig.2_Missense_Mutation_p.A954S|PPP1R9A_uc003unr.3_Missense_Mutation_p.A251S	NM_017650	NP_060120	Q9ULJ8	NEB1_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 9A (PPP1R9A), transcript variant 4, mRNA.	954	Interacts with TGN38 (By similarity).					cell junction|synapse|synaptosome	actin binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			TCAGTCCTTAGCACTGTCATC	0.458000										HNSCC(28;0.073)				32			13		6.81908e-15	8.5667e-15	1	1	0
ADAMDEC1	27299	broad.mit.edu	37	8	24256482	24256482	+	Silent	SNP	G	A	A	rs7018313	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:24256482G>A	uc003xdz.2	+	8	1078	c.858G>A	c.(856-858)acG>acA	p.T286T	ADAMDEC1_uc010lub.2_Silent_p.T207T|ADAMDEC1_uc011lab.1_Silent_p.T207T	NM_014479	NP_001138744	O15204	ADEC1_HUMAN	Homo sapiens ADAM-like, decysin 1 (ADAMDEC1), transcript variant 1, mRNA.	286	Peptidase M12B.				integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		CAAGCACCACGTTTGACAACT	0.488000														36			33		0	0	1	0	0
MYLIP	29116	broad.mit.edu	37	6	16145386	16145386	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:16145386C>T	uc003nbq.3	+	5	1323	c.1086C>T	c.(1084-1086)agC>agT	p.S362S	MYLIP_uc003nbr.3_Silent_p.S181S	NM_013262	NP_037394	Q8WY64	MYLIP_HUMAN	Homo sapiens myosin regulatory light chain interacting protein (MYLIP), mRNA.	362					cellular component movement|nervous system development	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(50;0.0799)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.241)			ACTGCAGCAGCTGCGAGGGCC	0.572000														103			7		0	0	1	0	0
CRYGD	1421	broad.mit.edu	37	2	209027941	209027941	+	Missense_Mutation	SNP	C	T	T	rs139353014	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:209027941C>T	uc002vcq.4	-	1	256	c.239G>A	c.(238-240)cGt>cAt	p.R80H	CRYGD_uc021vvu.1_Intron	NM_014617	NP_055432	P07320	CRGD_HUMAN	Homo sapiens crystallin, gamma A (CRYGA), mRNA.	80	Beta/gamma crystallin 'Greek key' 2.				cellular response to reactive oxygen species|visual perception	soluble fraction	protein binding|structural constituent of eye lens			breast(1)|endometrium(1)|lung(3)	5				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)		AGGAATTATACGGCAGGATTG	0.498000														26			18		0	0	1	0	0
DDI2	84301	broad.mit.edu	37	1	15964861	15964861	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:15964861G>T	uc001awx.2	+	4	905	c.692G>T	c.(691-693)gGc>gTc	p.G231V	RSC1A1_uc009voj.2_Intron	NM_032341	NP_115717	Q5TDH0	DDI2_HUMAN	Homo sapiens DNA-damage inducible 1 homolog 2 (S. cerevisiae) (DDI2), mRNA.	231					proteolysis		aspartic-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|stomach(1)	17		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00327)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.03e-07)|COAD - Colon adenocarcinoma(227;4.48e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		GAAAGTTTTGGCCAAGTAGTG	0.418000														116			78		4.03997e-35	5.35434e-35	1	1	0
TCTE1	202500	broad.mit.edu	37	6	44250038	44250038	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:44250038G>T	uc003oxi.2	-	3	1261	c.1105C>A	c.(1105-1107)Cta>Ata	p.L369I	TMEM151B_uc003oxg.3_Intron|TMEM151B_uc003oxf.2_Intron	NM_182539	NP_872345	Q5JU00	TCTE1_HUMAN	Homo sapiens t-complex-associated-testis-expressed 1 (TCTE1), mRNA.	369										breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TTGAGACGTAGGTTGAGGGAA	0.602000														110			10		0.000673444	0.000715966	1	1	0
ATG9A	79065	broad.mit.edu	37	2	220089566	220089566	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:220089566G>A	uc002vke.1	-	7	713	c.527C>T	c.(526-528)cCg>cTg	p.P176L	ATG9A_uc002vkd.1_Non-coding_Transcript|ATG9A_uc002vkf.1_Missense_Mutation_p.P176L	NM_001077198	NP_076990	Q7Z3C6	ATG9A_HUMAN	Homo sapiens ATG9 autophagy related 9 homolog A (S. cerevisiae) (ATG9A), transcript variant 1, mRNA.	176					autophagic vacuole assembly|protein transport	Golgi apparatus|autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|late endosome membrane				endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(1)	13		Renal(207;0.0474)		Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CGTGCAATACGGAAGGGCAGA	0.567000														25			18		0	0	1	0	0
MAP3K10	4294	broad.mit.edu	37	19	40715068	40715068	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:40715068C>T	uc002ona.3	+	5	1782	c.1494C>T	c.(1492-1494)tcC>tcT	p.S498S		NM_002446	NP_002437	Q02779	M3K10_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 10 (MAP3K10), mRNA.	498					activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway	cytoplasm	ATP binding|JUN kinase kinase kinase activity|bHLH transcription factor binding|protein homodimerization activity|transcription corepressor activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						GGAAAGGATCCGATGGGGCCA	0.562000														56			30		0	0	1	0	0
SLC25A33	84275	broad.mit.edu	37	1	9627405	9627405	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:9627405A>G	uc001apw.3	+	2	523	c.300A>G	c.(298-300)ggA>ggG	p.G100G		NM_032315	NP_115691	Q9BSK2	S2533_HUMAN	Homo sapiens solute carrier family 25, member 33 (SLC25A33), nuclear gene encoding mitochondrial protein, mRNA.	100					transport	integral to membrane|mitochondrial inner membrane				endometrium(2)|kidney(1)|lung(4)|prostate(1)|skin(1)	9	all_lung(157;0.246)	all_epithelial(116;1.16e-18)|all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Breast(348;0.00191)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.44e-05)|Kidney(185;0.000262)|KIRC - Kidney renal clear cell carcinoma(229;0.000957)|BRCA - Breast invasive adenocarcinoma(304;0.0019)|STAD - Stomach adenocarcinoma(132;0.00355)|READ - Rectum adenocarcinoma(331;0.0419)		ATTTGGTTGGAGTTGCACCAT	0.423000														91			47		0	0	1	0	0
TMC2	117532	broad.mit.edu	37	20	2592935	2592935	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:2592935G>A	uc002wgf.1	+	12	1707	c.1692G>A	c.(1690-1692)ctG>ctA	p.L564L	TMC2_uc002wgg.1_Silent_p.L548L|TMC2_uc010zpw.1_Silent_p.L396L|TMC2_uc010zpx.1_Silent_p.L395L	NM_080751	NP_542789	Q8TDI7	TMC2_HUMAN	Homo sapiens transmembrane channel-like 2 (TMC2), mRNA.	564						integral to membrane				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						GACCACCCCTGCACCCTGCAG	0.493000														81			9		0	0	1	0	0
RPS6KA2	6196	broad.mit.edu	37	6	166831722	166831722	+	Silent	SNP	G	A	A	rs149521975	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:166831722G>A	uc003qvd.1	-	20	2117	c.2004C>T	c.(2002-2004)gaC>gaT	p.D668D	RPS6KA2_uc011ego.1_Silent_p.D554D|RPS6KA2_uc010kkl.1_Silent_p.D554D|RPS6KA2_uc003qvb.1_Silent_p.D643D|RPS6KA2_uc003qvc.1_Silent_p.D651D|RPS6KA2_uc010kkk.1_Silent_p.D75D	NM_021135	NP_066958	Q15349	KS6A2_HUMAN	Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 2 (RPS6KA2), transcript variant 1, mRNA.	643	Protein kinase 2.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|axon guidance|innate immune response|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		CTTTAGCTGCGTCAGATATCG	0.473000														80			8		0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76450573	76450573	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:76450573G>A	uc010dhp.2	-	63	10510	c.10385C>T	c.(10384-10386)gCc>gTc	p.A3462V	DNAH17_uc002jvs.3_Non-coding_Transcript	NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CAGGCGGATGGCTTTCAGTTC	0.582000														10			5		0	0	1	0	0
CELA2B	51032	broad.mit.edu	37	1	15812483	15812483	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:15812483G>A	uc001awl.3	+	5	606	c.581G>A	c.(580-582)aGc>aAc	p.S194N		NM_015849	NP_056933	P08218	CEL2B_HUMAN	Homo sapiens chymotrypsin-like elastase family, member 2B (CELA2B), mRNA.	194	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)	8						TGGTGGGGCAGCACCGTGAAG	0.567000														126			77		0	0	1	0	0
SLC8A2	6543	broad.mit.edu	37	19	47940750	47940750	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:47940750C>T	uc010ele.3	-	6	2095	c.2079G>A	c.(2077-2079)gaG>gaA	p.E693E	SLC8A2_uc002pgx.3_Silent_p.E693E|SLC8A2_uc010xyq.2_Silent_p.E449E|SLC8A2_uc010xyr.2_Silent_p.E156E			Q9UPR5	NAC2_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 2 (SLC8A2), mRNA.	693					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		CTAAAAACTGCTCCCTCCATG	0.517000														44			31		0	0	1	0	0
ATRX	546	broad.mit.edu	37	X	76776890	76776890	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:76776890A>G	uc004ecp.4	-	32	7294	c.7062T>C	c.(7060-7062)atT>atC	p.I2354I	ATRX_uc004ecq.4_Silent_p.I2316I|ATRX_uc004eco.4_Silent_p.I2139I	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	2354					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.I2353V(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	CTACAGCTGAAATTATATCCT	0.373000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome							69			9		0	0	1	0	0
BLNK	29760	broad.mit.edu	37	10	97964316	97964316	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:97964316G>A	uc001kls.4	-	11	1052	c.874C>T	c.(874-876)Cag>Tag	p.Q292*	BLNK_uc001kme.4_Nonsense_Mutation_p.Q187*|BLNK_uc001klt.4_Nonsense_Mutation_p.Q183*|BLNK_uc009xvc.3_Non-coding_Transcript|BLNK_uc001klu.4_Nonsense_Mutation_p.Q210*|BLNK_uc001klv.4_Nonsense_Mutation_p.Q187*|BLNK_uc001klw.4_Non-coding_Transcript|BLNK_uc001klx.4_Nonsense_Mutation_p.Q269*|BLNK_uc001kly.4_Nonsense_Mutation_p.Q292*|BLNK_uc001klz.4_Non-coding_Transcript|BLNK_uc001kma.4_Nonsense_Mutation_p.Q269*|BLNK_uc001kmb.4_Nonsense_Mutation_p.Q88*|BLNK_uc001kmc.4_Non-coding_Transcript|BLNK_uc001kmd.4_Nonsense_Mutation_p.Q210*|BLNK_uc009xvd.3_Non-coding_Transcript	NM_013314	NP_037446	Q8WV28	BLNK_HUMAN	Homo sapiens B-cell linker (BLNK), transcript variant 1, mRNA.	292					B cell differentiation|humoral immune response|inflammatory response|intracellular signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity|transmembrane receptor protein tyrosine kinase adaptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(2)|stomach(1)	14		Colorectal(252;0.083)		Epithelial(162;7.89e-08)|all cancers(201;2.27e-06)		ACTGGTGACTGCACAGCTTCT	0.423000														49			33		0	0	1	0	0
TUBGCP2	10844	broad.mit.edu	37	10	135102452	135102452	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:135102452G>A	uc010qvc.1	-	10	1874	c.1517C>T	c.(1516-1518)aCg>aTg	p.T506M	TUBGCP2_uc001lmf.1_Missense_Mutation_p.T71M|TUBGCP2_uc001lmg.1_Missense_Mutation_p.T478M|TUBGCP2_uc010qvd.1_Missense_Mutation_p.T348M|TUBGCP2_uc009ybk.1_Missense_Mutation_p.T478M|TUBGCP2_uc001lmh.1_Non-coding_Transcript	NM_006659	NP_006650	Q9BSJ2	GCP2_HUMAN	Homo sapiens tubulin, gamma complex associated protein 2 (TUBGCP2), mRNA.	478					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytoplasmic microtubule|cytosol|spindle pole	protein binding			breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)		CTCTTTTAACGTGTAGATGAT	0.478000														40			16		0	0	1	0	0
GPR128	84873	broad.mit.edu	37	3	100365530	100365530	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:100365530T>C	uc003duc.3	+	9	1496	c.1228T>C	c.(1228-1230)Tgc>Cgc	p.C410R	GPR128_uc011bhc.2_Missense_Mutation_p.C111R	NM_032787	NP_116176	Q96K78	GP128_HUMAN	Homo sapiens G protein-coupled receptor 128 (GPR128), mRNA.	410	GPS.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						ATTCCTGCGCTGCCGCTGCAA	0.408000														46			11		0	0	1	0	0
DHX34	9704	broad.mit.edu	37	19	47865951	47865951	+	Splice_Site	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:47865951G>A	uc010xyn.2	+	6	1942	c.1593_splice	c.e6+1	p.Q531_splice	DHX34_uc010elc.1_Splice_Site_p.Q446_splice	NM_014681	NP_055496	Q14147	DHX34_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 34 (DHX34), mRNA.	531	Helicase C-terminal.					intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		GGTGCTGCAGGTGAGGCATGG	0.502000														19			3		0	0	1	0	0
HIVEP1	3096	broad.mit.edu	37	6	12164453	12164453	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:12164453C>T	uc003nac.3	+	8	8095	c.7916C>T	c.(7915-7917)gCc>gTc	p.A2639V	HIVEP1_uc011diq.2_Non-coding_Transcript	NM_002114	NP_002105	P15822	ZEP1_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 1 (HIVEP1), mRNA.	2639					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				GAGAAGGCTGCCTCGGCAAAT	0.517000														19			8		0	0	1	0	0
SDCCAG8	10806	broad.mit.edu	37	1	243504455	243504455	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:243504455C>T	uc001hzw.3	+	10	1505	c.1336C>T	c.(1336-1338)Cgg>Tgg	p.R446W	SDCCAG8_uc010pyk.2_Missense_Mutation_p.R301W|SDCCAG8_uc010pyl.2_Missense_Mutation_p.R258W|SDCCAG8_uc001hzx.3_Missense_Mutation_p.R258W	NM_006642	NP_006633	Q86SQ7	SDCG8_HUMAN	Homo sapiens serologically defined colon cancer antigen 8 (SDCCAG8), mRNA.	446	Sufficient for homodimerization (By similarity).				G2/M transition of mitotic cell cycle|establishment of cell polarity|tube formation	cell-cell junction|centriole|cytosol	protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)		GCTGGCTTCTCGGGAAATGGA	0.373000														63			21		0	0	1	0	0
KLHL24	54800	broad.mit.edu	37	3	183381373	183381373	+	Nonsense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:183381373G>T	uc003flv.3	+	3	1343	c.1048G>T	c.(1048-1050)Gaa>Taa	p.E350*	KLHL24_uc003flw.3_Nonsense_Mutation_p.E350*|KLHL24_uc003flx.3_Nonsense_Mutation_p.E350*	NM_017644	NP_060114	Q6TFL4	KLH24_HUMAN	Homo sapiens kelch-like 24 (Drosophila) (KLHL24), mRNA.	350						axon|cytoplasm|perikaryon				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)			TAAGCTTCCAGAATTTACCAA	0.393000														83			12		1.5842e-08	1.86177e-08	1	1	0
DNAH10	196385	broad.mit.edu	37	12	124332541	124332541	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:124332541G>A	uc001uft.4	+	31	5519	c.5494G>A	c.(5494-5496)Ggc>Agc	p.G1832S		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	1832	AAA 1 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GGCCCCCGCCGGCCCAGCAGG	0.537000														73			33		0	0	1	0	0
MGA	23269	broad.mit.edu	37	15	41988656	41988656	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:41988656T>C	uc010ucy.2	+	2	1629	c.1448T>C	c.(1447-1449)aTt>aCt	p.I483T	MGA_uc001zog.1_Missense_Mutation_p.I483T|MGA_uc010ucz.2_Missense_Mutation_p.I483T	NM_001164273	NP_001157745	Q8IWI9	MGAP_HUMAN	Homo sapiens MAX gene associated (MGA), transcript variant 1, mRNA.	483						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		ACAGTTAAGATTTCTGAACTC	0.398000														85			15		0	0	1	0	0
C12orf51	283450	broad.mit.edu	37	12	112622414	112622414	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:112622414G>A	uc021reb.1	-	60	10350	c.9954C>T	c.(9952-9954)gaC>gaT	p.D3318D		NM_001109662	NP_001103132			Homo sapiens chromosome 12 open reading frame 51 (C12orf51), mRNA.											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(6)|large_intestine(16)|lung(49)|ovary(4)|prostate(1)|urinary_tract(6)	100						CAACTTTCCCGTCCCCGCCCT	0.622000														27			8		0	0	1	0	0
MLLT6	4302	broad.mit.edu	37	17	36865496	36865496	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:36865496G>A	uc002hqi.4	+	4	438	c.425G>A	c.(424-426)cGc>cAc	p.R142H	MLLT6_uc010wdr.2_Missense_Mutation_p.R142H|MLLT6_uc010cvm.1_Missense_Mutation_p.R142H	NM_005937	NP_005928	P55198	AF17_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6 (MLLT6), mRNA.	142					regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding			breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(7;4.43e-21)					ACCTGTAACCGCCATGGATGT	0.637000			T	MLL	AL									141			22		0	0	1	0	0
PPIL2	23759	broad.mit.edu	37	22	22039067	22039067	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:22039067G>A	uc010gtj.1	+	9	695	c.579G>A	c.(577-579)ccG>ccA	p.P193P	PPIL2_uc002zvh.4_Silent_p.P193P|PPIL2_uc002zvi.4_Silent_p.P193P|PPIL2_uc002zvg.4_Silent_p.P193P|PPIL2_uc011aij.2_Silent_p.P172P|PPIL2_uc002zvk.4_5'Flank	NM_148175	NP_680480	Q13356	PPIL2_HUMAN	Homo sapiens peptidylprolyl isomerase (cyclophilin)-like 2 (PPIL2), transcript variant 2, mRNA.	193					blood coagulation|leukocyte migration|protein folding|protein polyubiquitination	Golgi lumen|nucleus|ubiquitin ligase complex	peptidyl-prolyl cis-trans isomerase activity|ubiquitin-ubiquitin ligase activity	p.P193P(2)		endometrium(4)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	17	Colorectal(54;0.105)					AACAGGACCCGTCTTATTATC	0.547000														26			11		0	0	1	0	0
SPACA3	124912	broad.mit.edu	37	17	31324527	31324527	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:31324527G>T	uc002hhs.1	+	3	642	c.567G>T	c.(565-567)caG>caT	p.Q189H	SPACA3_uc010cte.1_Non-coding_Transcript	NM_173847	NP_776246	Q8IXA5	SACA3_HUMAN	Homo sapiens sperm acrosome associated 3 (SPACA3), mRNA.	189					cell wall macromolecule catabolic process|defense response to Gram-positive bacterium|monocyte activation|peptidoglycan catabolic process|positive regulation of macrophage activation|positive regulation of phagocytosis|response to virus	acrosomal membrane|extracellular region|integral to membrane|lysosome	bacterial cell surface binding|lysozyme activity|protein binding			breast(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(9;0.193)			AAGAGCCTCAGGGTCTGGGTT	0.507000														87			70		7.33394e-39	9.74175e-39	1	1	0
NBAS	51594	broad.mit.edu	37	2	15359051	15359051	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:15359051C>T	uc002rcc.1	-	47	6304	c.6278G>A	c.(6277-6279)cGg>cAg	p.R2093Q	NBAS_uc002rcb.1_Intron|NBAS_uc010exl.1_Missense_Mutation_p.R1165Q|NBAS_uc002rcd.1_Intron	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN	Homo sapiens neuroblastoma amplified sequence (NBAS), mRNA.	2093										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						ACAGAAAGGCCGCAGCCACTC	0.557000														20			17		0	0	1	0	0
USP26	83844	broad.mit.edu	37	X	132161017	132161017	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:132161017A>G	uc011mvf.2	-	0	1284	c.1232T>C	c.(1231-1233)tTt>tCt	p.F411S	USP26_uc010nrm.1_Missense_Mutation_p.F411S	NM_031907	NP_114113	Q9BXU7	UBP26_HUMAN	Homo sapiens ubiquitin specific peptidase 26 (USP26), mRNA.	411					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					ATCTTCCCCAAATTCACTTTT	0.373000														90			43		0	0	1	0	0
APBA1	320	broad.mit.edu	37	9	72131307	72131307	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:72131307C>A	uc004ahh.2	-	1	1096	c.820G>T	c.(820-822)Gtg>Ttg	p.V274L		NM_001163	NP_001154	Q02410	APBA1_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family A, member 1 (APBA1), mRNA.	274	Munc-18-1 binding.				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						ACCTCGGCCACTATCTGGTCG	0.677000														17			5		1	1	1	1	0
FBXO24	26261	broad.mit.edu	37	7	100198336	100198336	+	Silent	SNP	C	T	T	rs139735860		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100198336C>T	uc011kjz.1	+	9	1739	c.1671C>T	c.(1669-1671)tgC>tgT	p.C557C	FBXO24_uc003uvm.1_Silent_p.C519C|FBXO24_uc003uvn.1_Silent_p.C157C|LOC100129845_uc011kjy.2_Intron|FBXO24_uc011kka.1_Silent_p.C507C|LOC100129845_uc022air.1_Intron|PCOLCE_uc011kkb.1_5'Flank|PCOLCE_uc003uvo.3_5'Flank	NM_012172	NP_036304	O75426	FBX24_HUMAN	Homo sapiens F-box protein 24 (FBXO24), transcript variant 3, mRNA.	519						ubiquitin ligase complex	ubiquitin-protein ligase activity			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					CCCAGGCCTGCGAGGAGTACC	0.667000														23			32		0	0	1	0	0
TBPL1	9519	broad.mit.edu	37	6	134301387	134301387	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:134301387C>T	uc010kgg.3	+	1	729	c.124C>T	c.(124-126)Cgt>Tgt	p.R42C	TBPL1_uc003qel.3_Missense_Mutation_p.R42C	NM_001253676	NP_001240605	P62380	TBPL1_HUMAN	Homo sapiens TBP-like 1 (TBPL1), transcript variant 1, mRNA.	42					regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	cytoplasm	DNA binding|protein binding|transcription coactivator activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	6	Colorectal(23;0.221)|Breast(56;0.247)			GBM - Glioblastoma multiforme(68;0.00591)|OV - Ovarian serous cystadenocarcinoma(155;0.00848)		AATTTATAAACGTGATGTTGG	0.289000														70			30		0	0	1	0	0
DARS2	55157	broad.mit.edu	37	1	173799819	173799819	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:173799819A>G	uc001gjh.2	+	3	887	c.316A>G	c.(316-318)Att>Gtt	p.I106V		NM_018122	NP_060592	Q6PI48	SYDM_HUMAN	Homo sapiens aspartyl-tRNA synthetase 2, mitochondrial (DARS2), nuclear gene encoding mitochondrial protein, mRNA.	106					tRNA aminoacylation for protein translation	mitochondrial matrix|nucleus	ATP binding|aspartate-tRNA ligase activity|nucleic acid binding			breast(4)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	30					L-Aspartic Acid(DB00128)	TGTGAAGAAGATTTTATGTGA	0.423000														72			13		0	0	1	0	0
TP73-AS1	57212	broad.mit.edu	37	1	3662291	3662291	+	RNA	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:3662291G>T	uc001akt.4	-	1		c.940C>A			TP73-AS1_uc021ofj.1_Non-coding_Transcript|TP73-AS1_uc021ofk.1_Non-coding_Transcript|TP73-AS1_uc021ofl.1_Non-coding_Transcript|TP73-AS1_uc009vlm.3_Non-coding_Transcript					Homo sapiens TP73 antisense RNA 1 (non-protein coding) (TP73-AS1), transcript variant 5, non-coding RNA.																		CGTACAGCAAGCAGCAGCTGT	0.612000														6			7		0.0381472	0.0388409	1	1	0
RAB11FIP4	84440	broad.mit.edu	37	17	29848935	29848935	+	Missense_Mutation	SNP	C	T	T	rs145696920		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:29848935C>T	uc002hgn.1	+	5	990	c.761C>T	c.(760-762)gCg>gTg	p.A254V	RAB11FIP4_uc002hgo.2_Missense_Mutation_p.A152V	NM_032932	NP_116321	Q86YS3	RFIP4_HUMAN	Homo sapiens RAB11 family interacting protein 4 (class II) (RAB11FIP4), mRNA.	254	Necessary for interaction with RAB11A, subcellular location, homo- or heterooligomerization.				cytokinesis|interspecies interaction between organisms|protein transport	cleavage furrow|endocytic vesicle|midbody|recycling endosome membrane	ADP-ribosylation factor binding|Rab GTPase binding|calcium ion binding|protein homodimerization activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066)				TGAATCAGTGCGGGGCAGACG	0.502000														29			12		0	0	1	0	0
ABCF2	10061	broad.mit.edu	37	7	150921997	150921997	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:150921997C>T	uc003wjo.1	-	2	343	c.232G>A	c.(232-234)Gcc>Acc	p.A78T	ABCF2_uc003wjp.3_Missense_Mutation_p.A78T	NM_005692	NP_005683	Q9UG63	ABCF2_HUMAN	Homo sapiens ATP-binding cassette, sub-family F (GCN20), member 2 (ABCF2), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	78						ATP-binding cassette (ABC) transporter complex|mitochondrial envelope	ATP binding|ATPase activity|transporter activity			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(15)|ovary(1)|skin(2)	24			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGGTGAGAGGCCAGGACGCCA	0.483000														74			21		0	0	1	0	0
TMEM5	10329	broad.mit.edu	37	12	64202637	64202637	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:64202637C>T	uc001srq.1	+	5	1201	c.1097C>T	c.(1096-1098)tCt>tTt	p.S366F	TMEM5_uc001srs.1_Missense_Mutation_p.S106F	NM_014254	NP_055069	Q9Y2B1	TMEM5_HUMAN	Homo sapiens transmembrane protein 5 (TMEM5), mRNA.	366						integral to plasma membrane				breast(1)|large_intestine(3)|liver(2)|lung(7)|prostate(1)|skin(1)	15		Myeloproliferative disorder(1001;0.0255)	BRCA - Breast invasive adenocarcinoma(9;0.0985)	GBM - Glioblastoma multiforme(28;9e-08)|BRCA - Breast invasive adenocarcinoma(357;0.000175)		GGGAATACATCTGTGCACCAC	0.478000														51			31		0	0	1	0	0
GPRIN2	9721	broad.mit.edu	37	10	46999131	46999131	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:46999131C>A	uc001jec.3	+	2	386	c.251C>A	c.(250-252)cCc>cAc	p.P84H	GPRIN2_uc021ppt.1_Missense_Mutation_p.P84H	NM_014696	NP_055511	O60269	GRIN2_HUMAN	Homo sapiens G protein regulated inducer of neurite outgrowth 2 (GPRIN2), mRNA.	84								p.R83P(1)		breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						AAGGCGCGACCCAGTGCTGGA	0.687000														55			10		0.00010058	0.000109296	1	1	0
SUGP1	57794	broad.mit.edu	37	19	19416805	19416805	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:19416805G>A	uc002nmh.3	-	3	407	c.391C>T	c.(391-393)Cgg>Tgg	p.R131W	SUGP1_uc002nmg.3_5'Flank|SUGP1_uc002nmi.3_5'UTR|SUGP1_uc002nmj.3_5'UTR|SUGP1_uc010xqr.2_Non-coding_Transcript|SUGP1_uc010xqs.2_Non-coding_Transcript	NM_172231	NP_757386	Q8IWZ8	SUGP1_HUMAN	Homo sapiens SURP and G patch domain containing 1 (SUGP1), mRNA.	131					nuclear mRNA splicing, via spliceosome	nucleoplasm|spliceosomal complex	RNA binding			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	22						AGGCCTGTCCGCCTGCTGATG	0.692000														14			11		0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228882782	228882782	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:228882782C>T	uc002vpq.2	-	6	2835	c.2788G>A	c.(2788-2790)Gcg>Acg	p.A930T	SPHKAP_uc002vpp.2_Missense_Mutation_p.A930T|SPHKAP_uc010zlx.1_Missense_Mutation_p.A930T	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	930	PKA-RII subunit binding domain (By similarity).					cytoplasm	protein binding	p.A930T(2)|p.A930V(1)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		AATTCTTCCGCAAAGTCTGTA	0.473000														135			12		0	0	1	0	0
G6PD	2539	broad.mit.edu	37	X	153774302	153774302	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153774302G>A	uc004fly.1	-	1	182	c.69C>T	c.(67-69)ggC>ggT	p.G23G	G6PD_uc004flx.1_Silent_p.G53G|IKBKG_uc011mzr.2_Intron|IKBKG_uc010nva.3_5'Flank|IKBKG_uc004fmb.4_5'Flank|IKBKG_uc011mzs.2_5'Flank|IKBKG_uc004fmd.3_5'Flank	NM_001042351	NP_001035810	P11413	G6PD_HUMAN	Homo sapiens glucose-6-phosphate dehydrogenase (G6PD), transcript variant 2, mRNA.	23					cellular response to oxidative stress|cholesterol biosynthetic process|cytokine production|erythrocyte maturation|glucose 6-phosphate metabolic process|glutathione metabolic process|negative regulation of protein glutathionylation|pentose-phosphate shunt, oxidative branch|ribose phosphate biosynthetic process	centrosome|cytosol|internal side of plasma membrane|intracellular membrane-bounded organelle	NADP binding|glucose binding|glucose-6-phosphate dehydrogenase activity|protein homodimerization activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(3)|ovary(4)	18	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGAAGGCATCGCCCTGGAAAA	0.567000														105			93		0	0	1	0	0
KRT77	374454	broad.mit.edu	37	12	53086375	53086375	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:53086375C>A	uc001saw.3	-	6	1286	c.1257G>T	c.(1255-1257)caG>caT	p.Q419H	KRT77_uc009zmi.3_Missense_Mutation_p.Q177H	NM_175078	NP_778253	Q7Z794	K2C1B_HUMAN	Homo sapiens keratin 77 (KRT77), mRNA.	419	Coil 2.|Rod.					keratin filament	structural molecule activity			NS(2)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						CCTGGAGGGCCTGCTCGCCTC	0.582000														31			14		3.45872e-05	3.81293e-05	1	1	0
SMC3	9126	broad.mit.edu	37	10	112362340	112362340	+	Nonsense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:112362340G>T	uc001kze.3	+	25	3340	c.3214G>T	c.(3214-3216)Gaa>Taa	p.E1072*		NM_005445	NP_005436	Q9UQE7	SMC3_HUMAN	Homo sapiens structural maintenance of chromosomes 3 (SMC3), mRNA.	1072					DNA mediated transformation|DNA repair|cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		AGATGAAGGAGAAGGGAGTGG	0.453000														47			5		0.000602214	0.000641151	1	1	0
TARS2	80222	broad.mit.edu	37	1	150469060	150469060	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:150469060T>C	uc001euq.3	+	7	884	c.877T>C	c.(877-879)Tgg>Cgg	p.W293R	TARS2_uc010pcd.1_Non-coding_Transcript|TARS2_uc001eur.3_Intron|TARS2_uc009wlt.3_Intron|TARS2_uc009wls.3_Intron	NM_025150	NP_079426	Q9BW92	SYTM_HUMAN	Homo sapiens threonyl-tRNA synthetase 2, mitochondrial (putative) (TARS2), nuclear gene encoding mitochondrial protein, mRNA.	293					threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity			cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	CTGGGAAGCATGGAGGGAGGA	0.542000														62			69		0	0	1	0	0
NIT2	56954	broad.mit.edu	37	3	100058042	100058042	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:100058042C>A	uc003dtv.3	+	1	193	c.119C>A	c.(118-120)tCt>tAt	p.S40Y	NIT2_uc011bha.1_Missense_Mutation_p.S40Y	NM_020202	NP_064587	Q9NQR4	NIT2_HUMAN	Homo sapiens nitrilase family, member 2 (NIT2), mRNA.	40	CN hydrolase.				nitrogen compound metabolic process		omega-amidase activity			breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)	17						AAAATAGTTTCTTTGCCGGTC	0.512000														77			43		1.8453e-21	2.38982e-21	1	1	0
GAS2L1	10634	broad.mit.edu	37	22	29704282	29704282	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:29704282T>C	uc003afa.1	+	1	386	c.187T>C	c.(187-189)Tgc>Cgc	p.C63R	GAS2L1_uc010gvm.1_Missense_Mutation_p.C63R|GAS2L1_uc003afb.1_Missense_Mutation_p.C63R|GAS2L1_uc003afc.1_Missense_Mutation_p.C63R|GAS2L1_uc003afd.1_Missense_Mutation_p.C63R|GAS2L1_uc003afe.1_Missense_Mutation_p.C63R	NM_152236	NP_689422	Q99501	GA2L1_HUMAN	Homo sapiens growth arrest-specific 2 like 1 (GAS2L1), transcript variant 2, mRNA.	63	CH.				cell cycle arrest	cytoplasm|cytoskeleton				endometrium(2)|lung(2)|prostate(1)	5						CACGACCCTGTGCCAACATGC	0.692000														6			5		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179650454	179650454	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179650454C>A	uc021vsy.1	-	14	2611	c.2386G>T	c.(2386-2388)Gat>Tat	p.D796Y	TTN_uc021vsz.1_Missense_Mutation_p.D750Y|TTN_uc021vta.1_Missense_Mutation_p.D750Y|TTN_uc021vtb.1_Missense_Mutation_p.D750Y|TTN_uc002unb.2_Missense_Mutation_p.D796Y	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	796							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.D750N(3)|p.D796N(2)		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)			GTTGTTAGATCTGTAGTTTTC	0.418000														63			7		0.00307968	0.00322291	1	1	0
SPRYD3	84926	broad.mit.edu	37	12	53460161	53460161	+	Missense_Mutation	SNP	C	A	A	rs139156601		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:53460161C>A	uc001sbt.2	-	9	1218	c.1131G>T	c.(1129-1131)gaG>gaT	p.E377D		NM_032840	NP_116229	Q8NCJ5	SPRY3_HUMAN	Homo sapiens SPRY domain containing 3 (SPRYD3), mRNA.	377	Glu-rich.									central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						cttcctcttcctcctcttcct	0.567000											OREG0021856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		52			8		0.00307968	0.00322291	1	1	0
ETV1	2115	broad.mit.edu	37	7	14027793	14027793	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:14027793C>T	uc021zzz.1	-	1	138	c.51G>A	c.(49-51)caG>caA	p.Q17Q	ETV1_uc021zzt.1_5'Flank|ETV1_uc021zzu.1_5'Flank|ETV1_uc021zzv.1_5'Flank|ETV1_uc021zzw.1_5'Flank|ETV1_uc021zzx.1_5'Flank|ETV1_uc021zzy.1_5'Flank|ETV1_uc022aaa.1_Silent_p.Q17Q|ETV1_uc022aab.1_Silent_p.Q17Q|ETV1_uc003ssw.4_Silent_p.Q17Q|ETV1_uc003ssx.3_Non-coding_Transcript|ETV1_uc022aac.1_Silent_p.Q17Q|ETV1_uc022aad.1_Silent_p.Q17Q|ETV1_uc010ktv.3_5'Flank	NM_004956	NP_004947	P50549	ETV1_HUMAN	Homo sapiens ets variant 1 (ETV1), transcript variant 1, mRNA.	17					transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						TTCTCCCACGCTGACTCTACA	0.418000			T	"""EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"""	"""Ewing sarcoma, prostate"""									43			32		0	0	1	0	0
ZNF335	63925	broad.mit.edu	37	20	44588001	44588001	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:44588001G>A	uc002xqw.3	-	14	2215	c.2092C>T	c.(2092-2094)Cgg>Tgg	p.R698W	ZNF335_uc010zxk.2_Missense_Mutation_p.R543W	NM_022095	NP_071378	Q9H4Z2	ZN335_HUMAN	Homo sapiens zinc finger protein 335 (ZNF335), mRNA.	698					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				TGTCGGCACCGTACGTGCAGG	0.632000														29			14		0	0	1	0	0
GPATCH3	63906	broad.mit.edu	37	1	27223972	27223972	+	Silent	SNP	G	A	A	rs149060380		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:27223972G>A	uc001bne.3	-	1	725	c.696C>T	c.(694-696)taC>taT	p.Y232Y	BC016143_uc021ojq.1_Intron|GPATCH3_uc009vsp.2_Silent_p.Y43Y	NM_022078	NP_071361	Q96I76	GPTC3_HUMAN	Homo sapiens G patch domain containing 3 (GPATCH3), mRNA.	232						intracellular	nucleic acid binding			endometrium(2)|large_intestine(1)|lung(11)|skin(1)	15		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.97e-51)|OV - Ovarian serous cystadenocarcinoma(117;9.55e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|STAD - Stomach adenocarcinoma(196;0.000595)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|READ - Rectum adenocarcinoma(331;0.0419)		GCACATTGCCGTAGCGCCGGG	0.567000														131			17		0	0	1	0	0
BMP10	27302	broad.mit.edu	37	2	69093135	69093135	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:69093135C>T	uc002sez.1	-	1	1062	c.903G>A	c.(901-903)caG>caA	p.Q301Q		NM_014482	NP_055297	O95393	BMP10_HUMAN	Homo sapiens bone morphogenetic protein 10 (BMP10), mRNA.	301					BMP signaling pathway|Notch signaling pathway|activin receptor signaling pathway|adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle cell proliferation|heart trabecula formation|negative regulation of cardiac muscle hypertrophy|negative regulation of cell growth|negative regulation of endothelial cell migration|pathway-restricted SMAD protein phosphorylation|positive regulation of cardiac muscle cell proliferation|positive regulation of cardiac muscle hypertrophy|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent|sarcomere organization|ventricular cardiac muscle cell development|ventricular cardiac muscle tissue morphogenesis	Z disc|cell surface|extracellular space	cytokine activity|growth factor activity|receptor serine/threonine kinase binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2)	27						TTGATCTCATCTGCAACAAAG	0.483000														19			16		0	0	1	0	0
HSPG2	3339	broad.mit.edu	37	1	22200957	22200957	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:22200957G>A	uc009vqd.3	-	27	3641	c.3601C>T	c.(3601-3603)Cgg>Tgg	p.R1201W	HSPG2_uc001bfj.3_Missense_Mutation_p.R1200W	NM_005529	NP_005520	P98160	PGBM_HUMAN	Homo sapiens heparan sulfate proteoglycan 2 (HSPG2), mRNA.	1200	Laminin EGF-like 6.				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)	GGTGTCCCCCGCTGGGCGTCC	0.667000														18			16		0	0	1	0	0
WRAP73	49856	broad.mit.edu	37	1	3555383	3555383	+	Missense_Mutation	SNP	G	A	A	rs149705127		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:3555383G>A	uc001ako.3	-	3	451	c.343C>T	c.(343-345)Cgg>Tgg	p.R115W	WRAP73_uc001akn.3_Missense_Mutation_p.R115W|WRAP73_uc010nzi.2_Missense_Mutation_p.R115W	NM_017818	NP_060288	Q9P2S5	WRP73_HUMAN	Homo sapiens WD repeat containing, antisense to TP73 (WRAP73), mRNA.	115						centrosome	protein binding	p.R115Q(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)	12						ACGGTTATCCGCAGCTGTTGG	0.527000														26			26		0	0	1	0	0
NUDT19	390916	broad.mit.edu	37	19	33200138	33200138	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:33200138T>C	uc010edf.3	+	1	762	c.762T>C	c.(760-762)atT>atC	p.I254I		NM_001105570	NP_001099040	A8MXV4	NUD19_HUMAN	Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 19 (NUDT19), nuclear gene encoding mitochondrial protein, mRNA.	254	Nudix hydrolase.					mitochondrion|peroxisome	hydrolase activity|metal ion binding			endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8	Esophageal squamous(110;0.137)					CAAAAGAAATTTGGTTGCCAC	0.428000														278			28		0	0	1	0	0
OR2L1P	26247	broad.mit.edu	37	1	248154339	248154339	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:248154339C>T	uc001idv.1	+	0	771	c.527C>T	c.(526-528)aCc>aTc	p.T176I	OR2L13_uc001ids.3_Intron					Homo sapiens olfactory receptor, family 2, subfamily L, member 1 pseudogene (OR2L1P), non-coding RNA.											lung(11)	11						TTTGCTTATACCTATCTACGC	0.517000														64			5		0	0	1	0	0
POLE	5426	broad.mit.edu	37	12	133219468	133219468	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:133219468G>A	uc001uks.1	-	35	4710	c.4666C>T	c.(4666-4668)Cgg>Tgg	p.R1556W	POLE_uc001ukq.1_5'Flank|POLE_uc001ukr.1_Missense_Mutation_p.R360W|POLE_uc010tbq.1_Non-coding_Transcript	NM_006231	NP_006222	Q07864	DPOE1_HUMAN	Homo sapiens polymerase (DNA directed), epsilon (POLE), mRNA.	1556					DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity|chromatin binding|nucleotide binding|protein binding|zinc ion binding	p.R1556L(1)		NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		GTTTCTGCCCGAACTTCGAAG	0.607000								DNA polymerases (catalytic subunits)						63			35		0	0	1	0	0
DNAH1	25981	broad.mit.edu	37	3	52409983	52409983	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52409983G>A	uc011bef.2	+	45	7433	c.7172G>A	c.(7171-7173)gGa>gAa	p.G2391E		NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA.	2391	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GGACTCCTTGGAGAAAAAAGC	0.607000														58			34		0	0	1	0	0
HAS3	3038	broad.mit.edu	37	16	69143610	69143610	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:69143610C>T	uc010cfh.3	+	1	536	c.312C>T	c.(310-312)tgC>tgT	p.C104C	HAS3_uc002ewk.3_Silent_p.C104C|HAS3_uc010vlk.1_Silent_p.C104C|HAS3_uc002ewl.3_Silent_p.C104C	NM_001199280	NP_001186209	O00219	HAS3_HUMAN	Homo sapiens hyaluronan synthase 3 (HAS3), transcript variant 3, mRNA.	104					carbohydrate metabolic process	integral to plasma membrane	hyaluronan synthase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(2)	16		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.0694)		TGCGCAAGTGCCTGCGCTCGG	0.662000														30			18		0	0	1	0	0
RELT	84957	broad.mit.edu	37	11	73101671	73101671	+	Splice_Site	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:73101671G>A	uc001otv.3	+	3	285	c.120_splice	c.e3+1	p.L40_splice	RELT_uc001otw.3_Splice_Site_p.L40_splice|RELT_uc009yto.1_5'Flank|RELT_uc001otx.3_5'Flank	NM_152222	NP_689408	Q969Z4	TR19L_HUMAN	Homo sapiens RELT tumor necrosis factor receptor (RELT), transcript variant 2, mRNA.	40						cytoplasm|integral to membrane|plasma membrane	binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	12						GCCCGACCTGGTGAGCATTGC	0.647000														40			17		0	0	1	0	0
FBP1	2203	broad.mit.edu	37	9	97380054	97380054	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:97380054C>A	uc004auw.4	-	2	753	c.422G>T	c.(421-423)aGa>aTa	p.R141I	FBP1_uc010mrl.3_Missense_Mutation_p.R141I	NM_000507	NP_001121100	P09467	F16P1_HUMAN	Homo sapiens fructose-1,6-bisphosphatase 1 (FBP1), transcript variant 1, mRNA.	141					gluconeogenesis	cytosol	fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding|metal ion binding			kidney(1)|liver(1)|lung(1)	3		Acute lymphoblastic leukemia(62;0.136)			Adenosine monophosphate(DB00131)	TTTTACCTTTCTATAGATGCC	0.443000														22			12		3.07112e-06	3.45634e-06	1	1	0
CEP57	9702	broad.mit.edu	37	11	95546134	95546134	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:95546134C>T	uc001pfp.2	+	2	479	c.241C>T	c.(241-243)Cga>Tga	p.R81*	CEP57_uc001pfo.2_Nonsense_Mutation_p.R81*|CEP57_uc009ywn.2_5'UTR|CEP57_uc010ruh.2_Nonsense_Mutation_p.R72*|CEP57_uc001pfq.2_Nonsense_Mutation_p.R81*|CEP57_uc001pfr.2_5'UTR	NM_014679	NP_055494	Q86XR8	CEP57_HUMAN	Homo sapiens centrosomal protein 57kDa (CEP57), transcript variant 1, mRNA.	81	centrosome localization domain (CLD) (By similarity).				G2/M transition of mitotic cell cycle|fibroblast growth factor receptor signaling pathway|protein import into nucleus, translocation|spermatid development	Golgi apparatus|centrosome|cytosol|microtubule|nucleus	fibroblast growth factor binding|protein homodimerization activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	13		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AGATAAGATTCGACGCTTGGA	0.368000									Mosaic Variegated Aneuploidy Syndrome					58			32		0	0	1	0	0
ACTR2	10097	broad.mit.edu	37	2	65473760	65473760	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:65473760C>A	uc002sdp.3	+	3	492	c.277C>A	c.(277-279)Ctg>Atg	p.L93M	ACTR2_uc010yqf.1_Missense_Mutation_p.L33M|ACTR2_uc002sdq.3_Missense_Mutation_p.L88M|ACTR2_uc010yqg.2_Missense_Mutation_p.L36M	NM_001005386	NP_001005386	P61160	ARP2_HUMAN	Homo sapiens ARP2 actin-related protein 2 homolog (yeast) (ACTR2), transcript variant 1, mRNA.	88					cellular component movement	Arp2/3 protein complex|cell projection|cytoplasm	ATP binding|actin binding			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)	12						CATGAAACACCTGTGGGACTA	0.378000														134			11		0.000673444	0.000715966	1	1	0
LIPE	3991	broad.mit.edu	37	19	42906780	42906780	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:42906780G>A	uc002otr.3	-	8	3223	c.2946C>T	c.(2944-2946)agC>agT	p.S982S	AK311181_uc010eif.1_Intron	NM_005357	NP_005348	Q05469	LIPS_HUMAN	Homo sapiens lipase, hormone-sensitive (LIPE), mRNA.	982					cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding			breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				CAGGTGGCAGGCTCTTGAGCA	0.642000														19			9		0	0	1	0	0
ACAN	176	broad.mit.edu	37	15	89400981	89400981	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:89400981C>A	uc010upo.1	+	11	5539	c.5165C>A	c.(5164-5166)tCt>tAt	p.S1722Y	ACAN_uc010upp.1_Missense_Mutation_p.S1722Y|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	1722					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GCATCTGGGTCTCCTGATGTC	0.527000														111			67		6.06247e-24	7.90803e-24	1	1	0
FERMT3	83706	broad.mit.edu	37	11	63978187	63978187	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:63978187G>A	uc001nyl.2	+	2	414	c.265G>A	c.(265-267)Gca>Aca	p.A89T	FERMT3_uc001nym.2_Missense_Mutation_p.A89T	NM_178443	NP_848537	Q86UX7	URP2_HUMAN	Homo sapiens fermitin family member 3 (FERMT3), transcript variant URP2LF, mRNA.	89					integrin activation|leukocyte cell-cell adhesion|platelet aggregation|regulation of cell-cell adhesion mediated by integrin	cell junction|cell projection|podosome	integrin binding			breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	18						CCTGGCCGACGCACGCCTCTT	0.637000														106			56		0	0	1	0	0
VN1R2	317701	broad.mit.edu	37	19	53761868	53761868	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:53761868C>T	uc002qbi.2	+	0	324	c.240C>T	c.(238-240)caC>caT	p.H80H		NM_173856	NP_776255	Q8NFZ6	VN1R2_HUMAN	Homo sapiens vomeronasal 1 receptor 2 (VN1R2), mRNA.	80					response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		tctctgcacacggagagaaac	0.458000														6			3		0	0	1	0	0
TNIP2	79155	broad.mit.edu	37	4	2749465	2749465	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:2749465C>T	uc003gfg.2	-	1	571	c.484G>A	c.(484-486)Gcc>Acc	p.A162T	TNIP2_uc003gff.2_Missense_Mutation_p.A55T	NM_024309	NP_001154999	Q8NFZ5	TNIP2_HUMAN	Homo sapiens TNFAIP3 interacting protein 2 (TNIP2), transcript variant 1, mRNA.	162						cytosol	protein binding			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(6)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CACATGTGGGCGGTGGCGGTC	0.627000														93			65		0	0	1	0	0
DZIP3	9666	broad.mit.edu	37	3	108366851	108366851	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:108366851C>T	uc003dxd.3	+	15	2276	c.1854C>T	c.(1852-1854)taC>taT	p.Y618Y	DZIP3_uc003dxf.1_Silent_p.Y618Y|DZIP3_uc011bhm.2_Silent_p.Y69Y|DZIP3_uc003dxe.1_Silent_p.Y618Y|DZIP3_uc003dxg.1_Silent_p.Y341Y	NM_014648	NP_055463	Q86Y13	DZIP3_HUMAN	Homo sapiens DAZ interacting protein 3, zinc finger (DZIP3), mRNA.	618					protein polyubiquitination	cytoplasm	RNA binding|polyubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						TCATGGAGTACAATATAAATG	0.333000														103			12		0	0	1	0	0
ZNF236	7776	broad.mit.edu	37	18	74607198	74607198	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:74607198C>A	uc002lmi.3	+	9	1839	c.1641C>A	c.(1639-1641)ttC>ttA	p.F547L	ZNF236_uc002lmj.3_Non-coding_Transcript	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN	Homo sapiens zinc finger protein 236 (ZNF236), mRNA.	547					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		TGAAGAGCTTCTCCACCTCTG	0.617000														22			15		6.31663e-08	7.34157e-08	1	1	0
COPA	1314	broad.mit.edu	37	1	160283846	160283846	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:160283846G>T	uc001fvv.4	-	8	1170	c.776C>A	c.(775-777)cCt>cAt	p.P259H	COPA_uc009wti.3_Missense_Mutation_p.P259H|COPA_uc009wtj.1_Missense_Mutation_p.P205H	NM_001098398	NP_001091868	P53621	COPA_HUMAN	Homo sapiens coatomer protein complex, subunit alpha (COPA), transcript variant 1, mRNA.	259					COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CTCTTGGCGAGGGTGGAAGAC	0.463000														43			7		0.00307968	0.00322291	1	1	0
PLCXD3	345557	broad.mit.edu	37	5	41382286	41382286	+	Nonsense_Mutation	SNP	T	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:41382286T>A	uc003jmm.1	-	1	556	c.454A>T	c.(454-456)Aaa>Taa	p.K152*		NM_001005473	NP_001005473	Q63HM9	PLCX3_HUMAN	Homo sapiens phosphatidylinositol-specific phospholipase C, X domain containing 3 (PLCXD3), mRNA.	152	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						TGGTGATATTTCTGCATCCCA	0.413000														91			54		0	0	1	0	0
DOCK9	23348	broad.mit.edu	37	13	99479116	99479116	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:99479116G>A	uc001vnt.2	-	43	4980	c.4925C>T	c.(4924-4926)aCa>aTa	p.T1642I	DOCK9_uc001vnw.2_Missense_Mutation_p.T1641I|DOCK9_uc021rlw.1_Missense_Mutation_p.T1641I|DOCK9_uc001vnv.1_Non-coding_Transcript|DOCK9_uc010tir.1_Missense_Mutation_p.T1642I|DOCK9_uc001vnq.2_Missense_Mutation_p.T214I|DOCK9_uc001vnr.2_Missense_Mutation_p.T285I|DOCK9_uc010tin.1_Missense_Mutation_p.T285I|DOCK9_uc001vns.2_Missense_Mutation_p.T214I|DOCK9_uc010tio.1_Missense_Mutation_p.T334I|DOCK9_uc010tip.1_Missense_Mutation_p.T352I|DOCK9_uc001vnu.1_Missense_Mutation_p.T214I|DOCK9_uc010tiq.1_Missense_Mutation_p.T620I	NM_015296	NP_056111	Q9BZ29	DOCK9_HUMAN	Homo sapiens dedicator of cytokinesis 9 (DOCK9), transcript variant 1, mRNA.	1642	DHR-2.				blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CACTAGGGCTGTTACGTGGAC	0.393000														9			9		0	0	1	0	0
WFS1	7466	broad.mit.edu	37	4	6304141	6304141	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:6304141C>T	uc003giy.3	+	7	2785	c.2619C>T	c.(2617-2619)ggC>ggT	p.G873G	WFS1_uc003gix.3_Silent_p.G873G|WFS1_uc003giz.3_Silent_p.G691G	NM_001145853	NP_005996	O76024	WFS1_HUMAN	Homo sapiens Wolfram syndrome 1 (wolframin) (WFS1), transcript variant 2, mRNA.	873					ER overload response|ER-associated protein catabolic process|endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	ATPase binding|activating transcription factor binding|transporter activity|ubiquitin protein ligase binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		CCGTGCATGGCGCCGTGAAGT	0.617000														14			14		0	0	1	0	0
IL3RA	3563	broad.mit.edu	37	X	1464255	1464255	+	Silent	SNP	G	A	A	rs146307787		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:1464255G>A	uc004cps.3	+	2	460	c.111G>A	c.(109-111)caG>caA	p.Q37Q	CRLF2_uc022brt.1_Intron|IL3RA_uc011mhd.2_Intron	NM_002183	NP_002174	P26951	IL3RA_HUMAN	Homo sapiens interleukin 3 receptor, alpha (low affinity) (IL3RA), mRNA.	37						integral to membrane|plasma membrane	interleukin-3 receptor activity			lung(1)|skin(2)	3		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	CAAAGGCTCAGCAGTTGACCT	0.423000														89			45		0	0	1	0	0
TSPAN4	7106	broad.mit.edu	37	11	866626	866626	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:866626C>T	uc001lsd.1	+	8	922	c.713C>T	c.(712-714)gCg>gTg	p.A238V	TSPAN4_uc001lse.1_Missense_Mutation_p.A174V|TSPAN4_uc001lsf.1_Missense_Mutation_p.A238V|TSPAN4_uc001lsg.1_Missense_Mutation_p.A238V|TSPAN4_uc001lsh.1_Missense_Mutation_p.A238V|TSPAN4_uc001lsi.1_Missense_Mutation_p.A238V|TSPAN4_uc001lsj.1_Missense_Mutation_p.A238V	NM_003271	NP_001020410	O14817	TSN4_HUMAN	Homo sapiens tetraspanin 4 (TSPAN4), transcript variant 5, mRNA.	238					protein complex assembly	integral to plasma membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)	3		all_cancers(49;2.64e-08)|all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)		all cancers(45;4.32e-25)|Epithelial(43;3.29e-24)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ACCTACTGCGCGTAGGCCGCC	0.652000														12			6		0	0	1	0	0
RBMX2	51634	broad.mit.edu	37	X	129546780	129546780	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:129546780G>T	uc004evt.3	+	5	991	c.927G>T	c.(925-927)cgG>cgT	p.R309R		NM_016024	NP_057108	Q9Y388	RBMX2_HUMAN	Homo sapiens RNA binding motif protein, X-linked 2 (RBMX2), mRNA.	309	Arg-rich.			SSDAHSSWYNGRSEGRSYRSRSRSRDKSHRHKRARRSRERE SSNPSDRWRH -> LQMHILAGIMGVLKGVVIEVEVGAEIN PIGIKGPDAPGRGVLRIPVTVGVTEDFSCTVDLEIIMFFKC SQIQLGGYYFCI (in Ref. 1; AAD34074).			RNA binding|nucleotide binding			breast(4)|endometrium(2)|large_intestine(1)|liver(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	19						GACGCTCCCGGGAGCGGGAGT	0.458000														44			18		1.96292e-10	2.36921e-10	1	1	0
C12orf4	57102	broad.mit.edu	37	12	4600386	4600386	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:4600386G>T	uc001qms.3	-	11	1543	c.1455C>A	c.(1453-1455)ccC>ccA	p.P485P	C12orf4_uc001qmt.3_Silent_p.P485P	NM_020374	NP_065107	Q9NQ89	CL004_HUMAN	Homo sapiens chromosome 12 open reading frame 4 (C12orf4), mRNA.	485										NS(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	13			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)	BRCA - Breast invasive adenocarcinoma(232;0.0281)		TTAAGCACCAGGGTATAGTCA	0.348000														67			43		2.64894e-19	3.40751e-19	1	1	0
ERCC4	2072	broad.mit.edu	37	16	14029554	14029554	+	Missense_Mutation	SNP	C	T	T	rs147105770	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:14029554C>T	uc002dce.2	+	7	1774	c.1765C>T	c.(1765-1767)Cgg>Tgg	p.R589W	ERCC4_uc010uyz.1_Missense_Mutation_p.R139W	NM_005236	NP_005227	Q92889	XPF_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 4 (ERCC4), mRNA.	589					double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair	nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex	damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity	p.R589W(2)		NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						AACCTTTGTTCGGCAGCTTGA	0.478000			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum					50			35		0	0	1	0	0
SYNPO2L	79933	broad.mit.edu	37	10	75408082	75408082	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:75408082G>T	uc001jut.4	-	3	1480	c.1328C>A	c.(1327-1329)cCt>cAt	p.P443H	SYNPO2L_uc001jus.4_Missense_Mutation_p.P219H	NM_001114133	NP_001107605	Q9H987	SYP2L_HUMAN	Homo sapiens synaptopodin 2-like (SYNPO2L), transcript variant 1, mRNA.	443	Pro-rich.					cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Prostate(51;0.0112)					GCTGGCTACAGGCGCCGGCAA	0.672000														13			8		0.00448238	0.0046769	1	1	0
TOR1B	27348	broad.mit.edu	37	9	132571244	132571244	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:132571244G>A	uc004byk.1	+	3	762	c.702G>A	c.(700-702)aaG>aaA	p.K234K		NM_014506	NP_055321	O14657	TOR1B_HUMAN	Homo sapiens torsin family 1, member B (torsin B) (TOR1B), mRNA.	234					chaperone mediated protein folding requiring cofactor|response to unfolded protein	endoplasmic reticulum lumen	ATP binding|nucleoside-triphosphatase activity|unfolded protein binding			endometrium(3)|kidney(1)|large_intestine(1)|lung(7)	12		Ovarian(14;0.0586)				CCGGAAGAAAGAGGGAAGACA	0.458000														43			30		0	0	1	0	0
UCK1	83549	broad.mit.edu	37	9	134404542	134404542	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:134404542C>T	uc004cay.3	-	3	582	c.481G>A	c.(481-483)Gac>Aac	p.D161N	UCK1_uc010mzk.3_Missense_Mutation_p.D152N|UCK1_uc004cba.3_Missense_Mutation_p.D161N|UCK1_uc004caz.3_Non-coding_Transcript	NM_031432	NP_113620	Q9HA47	UCK1_HUMAN	Homo sapiens uridine-cytidine kinase 1 (UCK1), transcript variant 1, mRNA.	161					pyrimidine base metabolic process|pyrimidine nucleoside salvage	cytosol	ATP binding|phosphotransferase activity, alcohol group as acceptor|uridine kinase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	6				OV - Ovarian serous cystadenocarcinoma(145;2.34e-05)|Epithelial(140;0.000219)		ACGTCGGAGTCGGTGTCCACG	0.647000														14			15		0	0	1	0	0
VLDLR	7436	broad.mit.edu	37	9	2646507	2646507	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:2646507C>A	uc003zhk.1	+	10	2055	c.1658C>A	c.(1657-1659)tCt>tAt	p.S553Y	VLDLR_uc003zhl.1_Missense_Mutation_p.S553Y|VLDLR_uc003zhm.1_Non-coding_Transcript	NM_003383	NP_003374	P98155	VLDLR_HUMAN	Homo sapiens very low density lipoprotein receptor (VLDLR), transcript variant 1, mRNA.	553					cholesterol metabolic process|endocytosis|lipid transport|memory|very-low-density lipoprotein particle clearance	coated pit|integral to membrane|membrane fraction|plasma membrane|very-low-density lipoprotein particle	apolipoprotein binding|calcium ion binding|low-density lipoprotein receptor activity|very-low-density lipoprotein particle receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)		CTGTTTAACTCTGACTTGCGA	0.473000														39			5		0.000602214	0.000641151	1	1	0
KRT33B	3884	broad.mit.edu	37	17	39521183	39521183	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:39521183C>T	uc002hwl.3	-	5	990	c.945G>A	c.(943-945)caG>caA	p.Q315Q		NM_002279	NP_002270	Q14525	KT33B_HUMAN	Homo sapiens keratin 33B (KRT33B), mRNA.	315	Coil 2.|Rod.					intermediate filament	protein binding|structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000496)				TGATCAGGCTCTGCACCTGGG	0.617000														39			19		0	0	1	0	0
SATL1	340562	broad.mit.edu	37	X	84363608	84363608	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:84363608G>A	uc004een.3	-	0	367	c.367C>T	c.(367-369)Cgc>Tgc	p.R123C		NM_001012980	NP_001012998	Q86VE3	SATL1_HUMAN	Homo sapiens spermidine/spermine N1-acetyl transferase-like 1 (SATL1), mRNA.	178	Gln-rich.						N-acetyltransferase activity			NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29						TGCCTCATGCGTGATTGGCTG	0.542000											OREG0019887	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		9			7		0	0	1	0	0
ZNF791	163049	broad.mit.edu	37	19	12735514	12735514	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:12735514C>T	uc002mua.2	+	2	343	c.181C>T	c.(181-183)Cga>Tga	p.R61*	ZNF791_uc010xml.1_Nonsense_Mutation_p.R29*|ZNF791_uc010dyu.1_Intron|ZNF791_uc010xmm.1_5'UTR	NM_153358	NP_699189	Q3KP31	ZN791_HUMAN	Homo sapiens zinc finger protein 791 (ZNF791), mRNA.	61	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						AAACCAAGGACGAAATCTAAG	0.363000														13			3		0	0	1	0	0
ZNF474	133923	broad.mit.edu	37	5	121487888	121487888	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:121487888T>C	uc003ksv.3	+	1	579	c.203T>C	c.(202-204)cTa>cCa	p.L68P	ZNF474_uc021ycy.1_Missense_Mutation_p.L68P	NM_207317	NP_997200	Q6S9Z5	ZN474_HUMAN	Homo sapiens zinc finger protein 474 (ZNF474), mRNA.	68						intracellular	zinc ion binding	p.L68I(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|stomach(1)	21		all_cancers(142;0.229)|Prostate(80;0.0387)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000197)|Epithelial(69;0.00029)|all cancers(49;0.00415)		ACTGTGATACTATCAAAACTG	0.468000														162			16		0	0	1	0	0
CCNT2	905	broad.mit.edu	37	2	135711799	135711799	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:135711799G>A	uc002tuc.2	+	8	1807	c.1774G>A	c.(1774-1776)Gac>Aac	p.D592N	CCNT2_uc010zbf.2_Missense_Mutation_p.D417N|CCNT2_uc002tub.2_Missense_Mutation_p.D592N|CCNT2_uc002tud.2_Missense_Mutation_p.D255N	NM_058241	NP_490595	O60583	CCNT2_HUMAN	Homo sapiens cyclin T2 (CCNT2), transcript variant b, mRNA.	592					cell cycle|cell division|interspecies interaction between organisms|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein kinase binding			endometrium(2)|kidney(3)|large_intestine(10)|lung(6)|ovary(2)|prostate(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.107)		ACACAGTGCCGACGGAATACC	0.557000														29			21		0	0	1	0	0
SLCO4A1	28231	broad.mit.edu	37	20	61299185	61299185	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:61299185T>G	uc002ydb.1	+	7	1766	c.1561T>G	c.(1561-1563)Tcg>Gcg	p.S521A	LOC100127888_uc002ydd.3_5'Flank|SLCO4A1_uc002yde.1_5'UTR	NM_016354	NP_057438	Q96BD0	SO4A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 4A1 (SLCO4A1), mRNA.	521	Kazal-like.				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2)	21	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;2.33e-06)			TGTGTGCGGCTCGGACGGCCT	0.657000														41			25		0	0	1	0	0
FRMPD4	9758	broad.mit.edu	37	X	12722503	12722503	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:12722503C>A	uc004cuz.2	+	10	1602	c.1096C>A	c.(1096-1098)Ctt>Att	p.L366I	FRMPD4_uc011mij.2_Missense_Mutation_p.L358I	NM_014728	NP_055543	Q14CM0	FRPD4_HUMAN	Homo sapiens FERM and PDZ domain containing 4 (FRMPD4), mRNA.	366	FERM.				positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						AGAGACTTTTCTTCCCTCTGC	0.373000														72			27		1.77063e-15	2.23094e-15	1	1	0
CADPS	8618	broad.mit.edu	37	3	62751556	62751556	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:62751556C>A	uc003dll.2	-	1	905	c.545G>T	c.(544-546)aGt>aTt	p.S182I	CADPS_uc003dlm.2_Missense_Mutation_p.S182I|CADPS_uc003dln.2_Missense_Mutation_p.S182I|CADPS_uc021wzv.1_Missense_Mutation_p.S182I	NM_003716	NP_003707	Q9ULU8	CAPS1_HUMAN	Homo sapiens Ca++-dependent secretion activator (CADPS), transcript variant 1, mRNA.	182					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		CTCATAGTAACTCTGCACAGC	0.522000														66			4		0.00024832	0.000267289	1	1	0
SBF1	6305	broad.mit.edu	37	22	50898420	50898420	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:50898420C>T	uc003blh.3	-	25	3647	c.3452G>A	c.(3451-3453)cGc>cAc	p.R1151H	SBF1_uc011arx.2_Missense_Mutation_p.R815H	NM_002972	NP_002963	O95248	MTMR5_HUMAN	Homo sapiens SET binding factor 1 (SBF1), mRNA.	1151	Myotubularin phosphatase.				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		CGGAGAAATGCGGAAGGGCTC	0.667000														51			9		0	0	1	0	0
CYP4Z2P	163720	broad.mit.edu	37	1	47333757	47333757	+	RNA	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:47333757G>A	uc001cqo.1	-	7		c.970C>T			CYP4Z2P_uc009vyn.1_Non-coding_Transcript					Homo sapiens cytochrome P450, family 4, subfamily Z, polypeptide 2 pseudogene (CYP4Z2P), non-coding RNA.																		AAACATGAACGTTTTCACTTC	0.413000														36			20		0	0	1	0	0
ABL1	25	broad.mit.edu	37	9	133761036	133761036	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:133761036C>T	uc004bzw.3	+	10	3362	c.3359C>T	c.(3358-3360)tCg>tTg	p.S1120L	ABL1_uc004bzv.3_Missense_Mutation_p.S1139L	NM_005157	NP_005148	P00519	ABL1_HUMAN	Homo sapiens c-abl oncogene 1, non-receptor tyrosine kinase (ABL1), transcript variant a, mRNA.	1120	F-actin-binding.				DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|SH3 domain binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)	CTCCTCAGTTCGGTGAAGGAA	0.587000			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""									12			12		0	0	1	0	0
MED24	9862	broad.mit.edu	37	17	38185090	38185090	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:38185090C>A	uc002hts.3	-	12	1673	c.1473G>T	c.(1471-1473)cgG>cgT	p.R491R	MED24_uc010wes.2_Silent_p.R326R|MED24_uc010wet.2_Intron|MED24_uc002htt.3_Silent_p.R466R|MED24_uc002htu.3_Silent_p.R453R|MED24_uc010cwn.3_Silent_p.R453R|MED24_uc010weu.2_Silent_p.R376R|MED24_uc010wev.1_Silent_p.R416R|MED24_uc010wew.1_Silent_p.R407R|MED24_uc010wex.1_Silent_p.R171R	NM_014815	NP_055630	O75448	MED24_HUMAN	Homo sapiens mediator complex subunit 24 (MED24), transcript variant 1, mRNA.	466					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	mediator complex	RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	41	Colorectal(19;0.000442)					TGATGAATTTCCGGGCGAAGG	0.642000														32			9		6.31663e-08	7.34157e-08	1	1	0
ZNF365	22891	broad.mit.edu	37	10	64136617	64136617	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:64136617T>C	uc001jmc.2	+	1	980	c.665T>C	c.(664-666)gTg>gCg	p.V222A	ZNF365_uc001jly.4_Missense_Mutation_p.V237A|ZNF365_uc001jmb.4_Missense_Mutation_p.V222A|ZNF365_uc001jlz.4_Missense_Mutation_p.V222A|ZNF365_uc001jma.4_Intron	NM_199451	NP_955523	Q70YC4	TALAN_HUMAN	Homo sapiens zinc finger protein 365 (ZNF365), transcript variant C, mRNA.	0										breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					AACAGACAGGTGGACGTGGCC	0.512000														63			40		0	0	1	0	0
DCDC5	100506627	broad.mit.edu	37	11	30914468	30914468	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:30914468G>A	uc009yjk.1	-	23	3383	c.3314C>T	c.(3313-3315)cCg>cTg	p.P1105L	DCDC5_uc001mss.1_Non-coding_Transcript|DCDC5_uc021qfk.1_Missense_Mutation_p.P764L|DCDC5_uc009yjj.2_Non-coding_Transcript	NM_020869	NP_065920	Q6ZRR9	DCDC5_HUMAN	Homo sapiens doublecortin domain containing 5 (DCDC5), mRNA.	0					intracellular signal transduction					NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(17)|prostate(1)|stomach(1)	31						CAGGTTGCTCGGCTTGACTGC	0.423000														66			30		0	0	1	0	0
TLE3	7090	broad.mit.edu	37	15	70347546	70347546	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:70347546C>T	uc002asl.2	-	13	1730	c.1429G>A	c.(1429-1431)Gcc>Acc	p.A477T	TLE3_uc002ask.2_Missense_Mutation_p.A404T|TLE3_uc010ukd.1_Missense_Mutation_p.A467T|TLE3_uc010bil.1_Missense_Mutation_p.A474T|TLE3_uc002asn.2_Missense_Mutation_p.A465T|TLE3_uc002asm.2_Missense_Mutation_p.A477T|TLE3_uc002asp.2_Missense_Mutation_p.A469T|TLE3_uc002aso.2_Missense_Mutation_p.A472T	NM_001105192	NP_001098662	Q04726	TLE3_HUMAN	Homo sapiens transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila) (TLE3), transcript variant 2, mRNA.	477					Wnt receptor signaling pathway|organ morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.A477T(4)		breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						ATCTGCCGGGCGTGCCTCGGG	0.642000														43			5		0	0	1	0	0
ZNF383	163087	broad.mit.edu	37	19	37733454	37733454	+	Nonsense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:37733454G>T	uc002oft.1	+	7	896	c.316G>T	c.(316-318)Gga>Tga	p.G106*	ZNF383_uc002ofs.1_Nonsense_Mutation_p.G41*|ZNF383_uc002ofu.1_Nonsense_Mutation_p.G106*	NM_152604	NP_689817	Q8NA42	ZN383_HUMAN	Homo sapiens zinc finger protein 383 (ZNF383), mRNA.	106					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)	15			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GGAGATAATGGGACTTACAAA	0.363000														90			32		6.02846e-25	7.8822e-25	1	1	0
LSR	51599	broad.mit.edu	37	19	35741347	35741347	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:35741347A>G	uc002nyl.3	+	1	606	c.383A>G	c.(382-384)tAc>tGc	p.Y128C	LSR_uc010xsr.2_Missense_Mutation_p.Y128C|LSR_uc002nym.3_Missense_Mutation_p.Y128C|LSR_uc002nyn.3_Missense_Mutation_p.Y128C|LSR_uc002nyo.3_Missense_Mutation_p.Y128C|LSR_uc002nyp.3_Missense_Mutation_p.Y91C	NM_205834	NP_991403	Q86X29	LSR_HUMAN	Homo sapiens lipolysis stimulated lipoprotein receptor (LSR), transcript variant 2, mRNA.	128	Ig-like V-type.				embryo development|liver development	chylomicron|integral to membrane|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle	receptor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			ATCTGGAAGTACAAGTCTTTC	0.617000														90			65		0	0	1	0	0
SETD5	55209	broad.mit.edu	37	3	9488989	9488989	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:9488989G>T	uc003brt.3	+	13	2215	c.1780G>T	c.(1780-1782)Ggg>Tgg	p.G594W	SETD5_uc003brs.1_Missense_Mutation_p.G575W|SETD5_uc003bru.3_Missense_Mutation_p.G496W|SETD5_uc003brv.3_Missense_Mutation_p.G483W|SETD5_uc010hck.3_Missense_Mutation_p.G76W|SETD5_uc003brx.3_Missense_Mutation_p.G263W	NM_001080517	NP_001073986	Q9C0A6	SETD5_HUMAN	Homo sapiens SET domain containing 5 (SETD5), mRNA.	594										NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		TTCCCAAGCAGGGGTAAGAGT	0.428000														160			8		1.12685e-05	1.25391e-05	1	1	0
ACMSD	130013	broad.mit.edu	37	2	135616830	135616830	+	Splice_Site	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:135616830G>T	uc002ttz.3	+	3	170	c.103_splice	c.e3-1	p.G35_splice	ACMSD_uc002tua.3_Splice_Site	NM_138326	NP_612199	Q8TDX5	ACMSD_HUMAN	Homo sapiens aminocarboxymuconate semialdehyde decarboxylase (ACMSD), mRNA.	35					quinolinate metabolic process|tryptophan catabolic process	cytosol	aminocarboxymuconate-semialdehyde decarboxylase activity|metal ion binding			endometrium(3)|large_intestine(4)|lung(6)|skin(1)	14				BRCA - Breast invasive adenocarcinoma(221;0.115)		TTCTGCCCCAGGGAGAAGCAA	0.403000														16			13		5.50884e-06	6.15991e-06	1	1	0
MYT1L	23040	broad.mit.edu	37	2	1855461	1855461	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:1855461C>T	uc002qxe.3	-	18	3553	c.2726G>A	c.(2725-2727)gGc>gAc	p.G909D	MYT1L_uc002qxd.3_Missense_Mutation_p.G907D	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	Homo sapiens myelin transcription factor 1-like (MYT1L), mRNA.	909					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P908T(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		ACCATCACAGCCAGGCGTGGG	0.383000														82			8		0	0	1	0	0
RGS10	6001	broad.mit.edu	37	10	121259697	121259697	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:121259697G>A	uc001lee.3	-	3	450	c.450C>T	c.(448-450)acC>acT	p.T150T	RGS10_uc001lef.3_Silent_p.T144T|RGS10_uc001leg.3_Silent_p.T158T	NM_002925	NP_002916	O43665	RGS10_HUMAN	Homo sapiens regulator of G-protein signaling 10 (RGS10), transcript variant 2, mRNA.	150					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|protein binding|signal transducer activity			breast(2)|large_intestine(1)|lung(3)	6		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.00105)|GBM - Glioblastoma multiforme(135;0.195)		CCTCTTCCTCGGTTCGCTTGT	0.423000														53			40		0	0	1	0	0
GDF9	2661	broad.mit.edu	37	5	132197655	132197655	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:132197655G>A	uc003kxz.1	-	1	1243	c.991C>T	c.(991-993)Ccc>Tcc	p.P331S	GDF9_uc011cxj.1_Missense_Mutation_p.P243S	NM_005260	NP_005251	O60383	GDF9_HUMAN	Homo sapiens growth differentiation factor 9 (GDF9), mRNA.	331					female gamete generation|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			NS(1)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	22		all_cancers(142;0.105)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GGGCCCAAGGGCTTCTTCAAT	0.483000														73			12		0	0	1	0	0
AATF	26574	broad.mit.edu	37	17	35310341	35310341	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:35310341C>T	uc002hni.3	+	2	690	c.439C>T	c.(439-441)Ccg>Tcg	p.P147S		NM_012138	NP_036270	Q9NY61	AATF_HUMAN	Homo sapiens apoptosis antagonizing transcription factor (AATF), mRNA.	147	Glu-rich.				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of superoxide anion generation|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to DNA damage stimulus	centrosome|focal adhesion|nucleolus	leucine zipper domain binding|sequence-specific DNA binding transcription factor activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)	18		Breast(25;0.00607)				TGCAAAAACACCGGGCTTCAG	0.512000														27			25		0	0	1	0	0
FHOD1	29109	broad.mit.edu	37	16	67264291	67264291	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:67264291G>A	uc002esl.3	-	18	3089	c.2977C>T	c.(2977-2979)Cga>Tga	p.R993*	FHOD1_uc010ced.3_Nonsense_Mutation_p.R800*	NM_013241	NP_037373	Q9Y613	FHOD1_HUMAN	Homo sapiens formin homology 2 domain containing 1 (FHOD1), mRNA.	993	FH2.				actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding	p.R993R(2)		breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		TGTAGCACTCGTTCCCGGCAA	0.612000														31			22		0	0	1	0	0
DUOX2	50506	broad.mit.edu	37	15	45386444	45386444	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:45386444G>A	uc001zun.3	-	33	4754	c.4551C>T	c.(4549-4551)tgC>tgT	p.C1517C	DUOX2_uc010bea.3_Silent_p.C1517C	NM_014080	NP_054799	Q9NRD8	DUOX2_HUMAN	Homo sapiens dual oxidase 2 (DUOX2), mRNA.	1517					cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	NAD(P)H oxidase activity|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		CTGGAGGGCCGCAGCTGAACA	0.562000														19			16		0	0	1	0	0
NR2F2	7026	broad.mit.edu	37	15	96877635	96877635	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:96877635C>T	uc010uri.2	+	1	1997	c.773C>T	c.(772-774)gCg>gTg	p.A258V	NR2F2_uc002btp.3_Missense_Mutation_p.A125V|NR2F2_uc010urj.2_Missense_Mutation_p.A105V|NR2F2_uc010urk.2_Missense_Mutation_p.A105V	NM_021005	NP_001138629	P24468	COT2_HUMAN	Homo sapiens nuclear receptor subfamily 2, group F, member 2 (NR2F2), transcript variant 1, mRNA.	258	Interaction with ZFPM2 (By similarity).|Ligand-binding (By similarity).				lipid metabolic process|negative regulation of cyclin-dependent protein kinase activity|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment	nucleus	ligand-regulated transcription factor activity|protein homodimerization activity|retinoic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity|zinc ion binding	p.A257V(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(2)|lung(3)|ovary(2)|urinary_tract(1)	17	Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297)		OV - Ovarian serous cystadenocarcinoma(32;0.0856)			TTGAATGCGGCGCAGTGCTCC	0.677000														19			13		0	0	1	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	Missense_Mutation	SNP	A	G	G	rs2257765		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:38654432A>G	uc010qex.1	+	4	599	c.524A>G	c.(523-525)aAt>aGt	p.N175S	HSD17B7P2_uc001izq.3_Non-coding_Transcript|HSD17B7P2_uc001izo.1_Non-coding_Transcript|HSD17B7P2_uc001izp.1_Missense_Mutation_p.N173S					Homo sapiens hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2 (HSD17B7P2), non-coding RNA.																		TCATCTCGCAATGCAAGGAAA	0.453000														58			9		0	0	1	0	0
OR2M5	127059	broad.mit.edu	37	1	248308611	248308611	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:248308611G>T	uc010pze.2	+	0	162	c.162G>T	c.(160-162)caG>caT	p.Q54H		NM_001004690	NP_001004690	A3KFT3	OR2M5_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 5 (OR2M5), mRNA.	54					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			TGGACACCCAGCTCCACACCC	0.532000														326			19		3.28513e-13	4.08142e-13	1	1	0
SAMD4A	23034	broad.mit.edu	37	14	55034670	55034670	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:55034670C>T	uc001xbb.3	+	0	341	c.33C>T	c.(31-33)ggC>ggT	p.G11G	SAMD4A_uc001xba.3_Silent_p.G12G|SAMD4A_uc001xbc.3_Silent_p.G12G	NM_015589	NP_056404	Q9UPU9	SMAG1_HUMAN	Homo sapiens sterile alpha motif domain containing 4A (SAMD4A), transcript variant 1, mRNA.	12					positive regulation of translation	cell junction|cytoplasm|dendrite|synapse|synaptosome	translation repressor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)	29						TGCTGGCGGGCTGGTTTAAGG	0.697000														27			6		0	0	1	0	0
ZNF81	347344	broad.mit.edu	37	X	47775287	47775287	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:47775287C>T	uc022bvq.1	+	4	1491	c.1242C>T	c.(1240-1242)caC>caT	p.H414H	ZNF81_uc010nhy.2_Silent_p.H414H	NM_007137	NP_009068	P51508	ZNF81_HUMAN	Homo sapiens zinc finger protein 81 (ZNF81), mRNA.	414						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|large_intestine(1)|lung(1)|skin(1)	4		all_lung(315;0.0973)				AGAGACATCACAAATGCAGTG	0.423000														45			4		0	0	1	0	0
MOGAT3	346606	broad.mit.edu	37	7	100839254	100839254	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100839254G>A	uc003uyc.3	-	6	1166	c.999C>T	c.(997-999)ccC>ccT	p.P333P	MOGAT3_uc010lhr.3_Missense_Mutation_p.R266C	NM_178176	NP_835470	Q86VF5	MOGT3_HUMAN	Homo sapiens monoacylglycerol O-acyltransferase 3 (MOGAT3), mRNA.	333					glycerol metabolic process|lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity|diacylglycerol O-acyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(3)	22	Lung NSC(181;0.168)|all_lung(186;0.215)					AGGTGGAAGCGGGGACCCCAC	0.632000														83			22		0	0	1	0	0
ANG	283	broad.mit.edu	37	14	21161892	21161892	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:21161892C>T	uc021rok.1	+	0	169	c.169C>T	c.(169-171)Cgg>Tgg	p.R57W	ANG_uc001vxw.4_Missense_Mutation_p.R57W|RNASE4_uc001vxy.4_Intron|RNASE4_uc001vxx.4_Intron|ANG_uc001vxz.3_Missense_Mutation_p.R57W|RNASE4_uc001vya.3_Intron	NM_001145	NP_001136	P03950	ANGI_HUMAN	Homo sapiens angiogenin, ribonuclease, RNase A family, 5 (ANG), transcript variant 1, mRNA.	57					actin filament polymerization|activation of phospholipase A2 activity|activation of phospholipase C activity|activation of protein kinase B activity|angiogenesis|cell communication|cell death|cell migration|diacylglycerol biosynthetic process|homeostatic process|negative regulation of smooth muscle cell proliferation|negative regulation of translation|oocyte maturation|ovarian follicle development|placenta development|positive regulation of endothelial cell proliferation|positive regulation of phosphorylation|positive regulation of protein secretion|rRNA transcription|response to hormone stimulus|response to hypoxia	angiogenin-PRI complex|basal lamina|extracellular space|growth cone|neuronal cell body|nucleolus	actin binding|copper ion binding|heparin binding|pancreatic ribonuclease activity|peptide binding|rRNA binding|receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|ovary(1)|prostate(1)	5	all_cancers(95;0.00387)	all_cancers(140;0.196)|all_epithelial(140;0.156)	Epithelial(56;5.13e-07)|all cancers(55;4.73e-06)	OV - Ovarian serous cystadenocarcinoma(311;3.25e-17)|GBM - Glioblastoma multiforme(265;5.56e-07)		CATGAGGAGACGGGGCCTGAC	0.507000														40			12		0	0	1	0	0
SH3PXD2B	285590	broad.mit.edu	37	5	171765664	171765664	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:171765664C>A	uc003mbr.3	-	12	2616	c.2445G>T	c.(2443-2445)caG>caT	p.Q815H		NM_001017995	NP_001017995	A1X283	SPD2B_HUMAN	Homo sapiens SH3 and PX domains 2B (SH3PXD2B), mRNA.	815					adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly	cell junction|cell projection|cytoplasm|podosome	SH2 domain binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GCGTGTCATCCTGGCCCCCCA	0.612000														23			3		0.004672	0.00486265	1	1	0
MXRA5	25878	broad.mit.edu	37	X	3241892	3241892	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:3241892T>C	uc004crg.4	-	4	1991	c.1834A>G	c.(1834-1836)Att>Gtt	p.I612V		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	612	Ig-like C2-type 2.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TTTGGAAGAATCCAGCTAAGG	0.458000														22			9		0	0	1	0	0
SMARCAD1	56916	broad.mit.edu	37	4	95210632	95210632	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:95210632G>T	uc003htb.4	+	23	3211	c.3034G>T	c.(3034-3036)Ggg>Tgg	p.G1012W	SMARCAD1_uc003htc.4_Missense_Mutation_p.G1010W|SMARCAD1_uc003htd.4_Missense_Mutation_p.G1012W|SMARCAD1_uc010ila.3_Missense_Mutation_p.G875W|SMARCAD1_uc011cdw.2_Missense_Mutation_p.G580W	NM_001128430	NP_001121902	Q9H4L7	SMRCD_HUMAN	Homo sapiens SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1 (SMARCAD1), transcript variant 2, mRNA.	1010					chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity	p.G1010W(1)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		AGGTGATGAAGGGAGTATGCC	0.313000														126			9		3.09899e-07	3.55757e-07	1	1	0
CCDC78	124093	broad.mit.edu	37	16	774778	774778	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:774778C>T	uc002cjg.3	-	7	774	c.668G>A	c.(667-669)cGt>cAt	p.R223H	CCDC78_uc002cjh.3_5'UTR|CCDC78_uc002cji.3_3'UTR|CCDC78_uc002cjj.3_3'UTR|CCDC78_uc010uuo.1_Silent_p.P253P|HAGHL_uc002cjl.1_5'Flank|HAGHL_uc002cjn.1_5'Flank|HAGHL_uc002cjo.1_5'Flank|HAGHL_uc010uup.1_5'Flank	NM_001031737	NP_001026907	A2IDD5	CCD78_HUMAN	Homo sapiens coiled-coil domain containing 78 (CCDC78), mRNA.	223										central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(2)|skin(3)	9		Hepatocellular(780;0.0218)				CTCTGCCTGACGGAGCTGGCC	0.647000														15			6		0	0	1	0	0
ZFC3H1	196441	broad.mit.edu	37	12	72057179	72057179	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:72057179C>A	uc001swo.2	-	0	571	c.212G>T	c.(211-213)gGc>gTc	p.G71V	ZFC3H1_uc010sts.2_Missense_Mutation_p.G71V|ZFC3H1_uc001swp.3_Missense_Mutation_p.G71V|THAP2_uc001swq.3_5'Flank	NM_144982	NP_659419	O60293	ZC3H1_HUMAN	Homo sapiens zinc finger, C3H1-type containing (ZFC3H1), mRNA.	71	Ser-rich.				RNA processing	intracellular	metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CGAGGAAGAGCCACCGCCTCC	0.682000											OREG0021993	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		50			34		3.11337e-16	3.94066e-16	1	1	0
ZNF251	90987	broad.mit.edu	37	8	145947321	145947321	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:145947321A>G	uc003zdv.4	-	4	1980	c.1724T>C	c.(1723-1725)tTc>tCc	p.F575S		NM_138367	NP_612376	Q9BRH9	ZN251_HUMAN	Homo sapiens zinc finger protein 251 (ZNF251), mRNA.	575					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1)	17	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)		GGTGGGACTGAAAGCTTTTCC	0.458000														85			5		0	0	1	0	0
IVNS1ABP	10625	broad.mit.edu	37	1	185267195	185267195	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:185267195C>A	uc001grl.3	-	14	2524	c.1901G>T	c.(1900-1902)aGc>aTc	p.S634I	IVNS1ABP_uc001gri.3_Missense_Mutation_p.S294I|IVNS1ABP_uc001grj.3_Missense_Mutation_p.S294I|IVNS1ABP_uc009wyj.3_Missense_Mutation_p.S416I|IVNS1ABP_uc009wyk.3_Non-coding_Transcript	NM_006469	NP_006460	Q9Y6Y0	NS1BP_HUMAN	Homo sapiens influenza virus NS1A binding protein (IVNS1ABP), mRNA.	634					RNA splicing|interspecies interaction between organisms|response to virus|transcription from RNA polymerase III promoter	cytoplasm|cytoskeleton|spliceosomal complex|transcription factor complex				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(4)|prostate(2)	29						TGTATAGGGGCTCCATTCATT	0.378000														156			35		3.11337e-16	3.94066e-16	1	1	0
ZNF142	7701	broad.mit.edu	37	2	219508820	219508820	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:219508820G>T	uc002vin.3	-	7	2855	c.2419C>A	c.(2419-2421)Cta>Ata	p.L807I	ZNF142_uc002vil.3_Missense_Mutation_p.L768I|ZNF142_uc010fvt.3_Missense_Mutation_p.L644I|ZNF142_uc002vim.3_Missense_Mutation_p.L644I	NM_001105537	NP_001099007	P52746	ZN142_HUMAN	Homo sapiens zinc finger protein 142 (ZNF142), mRNA.	807					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		TGTCTCCTTAGGGCCTTGAGT	0.567000														124			61		7.59065e-32	1.00277e-31	1	1	0
FAM188A	80013	broad.mit.edu	37	10	15902255	15902255	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:15902255G>A	uc001iod.1	-	0	265	c.44C>T	c.(43-45)aCc>aTc	p.T15I	FAM188A_uc001ioe.1_5'UTR	NM_024948	NP_079224	Q9H8M7	F188A_HUMAN	Homo sapiens family with sequence similarity 188, member A (FAM188A), mRNA.	15					apoptosis	nucleus	calcium ion binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	22						GCTGCTCTTGGTGCCCCACAC	0.622000														11			5		0	0	1	0	0
HSPA1L	3305	broad.mit.edu	37	6	31778626	31778626	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31778626G>T	uc003nxh.3	-	1	1307	c.1124C>A	c.(1123-1125)gCt>gAt	p.A375D	HSPA1L_uc010jte.3_Missense_Mutation_p.A375D|HSPA1L_uc021yuz.1_Missense_Mutation_p.A375D	NM_005527	NP_005518	P34931	HS71L_HUMAN	Homo sapiens heat shock 70kDa protein 1-like (HSPA1L), mRNA.	375					response to unfolded protein		ATP binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						TTGTACCGCAGCCCCATATGC	0.597000														52			10		1.58986e-06	1.80238e-06	1	1	0
HOXC9	3225	broad.mit.edu	37	12	54396215	54396215	+	Splice_Site	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:54396215C>T	uc001seq.3	+	2	635	c.539_splice	c.e2-1	p.S180_splice		NM_006897	NP_008828	P31274	HXC9_HUMAN	Homo sapiens homeobox C9 (HOXC9), mRNA.	180					multicellular organismal development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(3)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	14						GCCCTCCAGGCAACCCCGTGG	0.582000														58			27		0	0	1	0	0
NLK	51701	broad.mit.edu	37	17	26518101	26518101	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:26518101C>T	uc010crj.3	+	8	1503	c.1291C>T	c.(1291-1293)Cga>Tga	p.R431*		NM_016231	NP_057315	Q9UBE8	NLK_HUMAN	Homo sapiens nemo-like kinase (NLK), mRNA.	431					Wnt receptor signaling pathway|intracellular protein kinase cascade|negative regulation of Wnt receptor signaling pathway|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|serine phosphorylation of STAT3 protein|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	ATP binding|MAP kinase activity|SH2 domain binding|magnesium ion binding|transcription factor binding|ubiquitin protein ligase binding	p.R431*(1)|p.R419*(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(1)	14	all_lung(13;0.000343)|Lung NSC(42;0.00184)			UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		AGATGAAGGGCGACTACGATA	0.423000														49			25		0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113234560	113234560	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:113234560G>A	uc010mtz.3	-	14	2980	c.2643C>T	c.(2641-2643)taC>taT	p.Y881Y	SVEP1_uc010mua.1_Silent_p.Y881Y	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	881					cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GGAAGTCATCGTAAGAGTAAT	0.478000														50			32		0	0	1	0	0
RPL10	6134	broad.mit.edu	37	X	153627882	153627882	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153627882T>G	uc004fkm.2	+	3	325	c.137T>G	c.(136-138)tTt>tGt	p.F46C	AK307233_uc010nuv.2_5'Flank|RPL10_uc004fko.2_Missense_Mutation_p.F46C|RPL10_uc004fkn.1_Missense_Mutation_p.F46C|RPL10_uc004fkq.1_Non-coding_Transcript|RPL10_uc004fkr.1_5'Flank|SNORA70_uc010nux.1_5'Flank|RPL10_uc022cif.1_5'Flank	NM_006013	NP_006004	P27635	RL10_HUMAN	Homo sapiens ribosomal protein L10 (RPL10), transcript variant 1, mRNA.	46					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|endoplasmic reticulum	structural constituent of ribosome			large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GTGGATGAGTTTCCGCTTTGT	0.522000											OREG0019957	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		113			18		0	0	1	0	0
ARL10	285598	broad.mit.edu	37	5	175793446	175793446	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:175793446C>T	uc003meb.3	+	1	312	c.247C>T	c.(247-249)Ctg>Ttg	p.L83L	ARL10_uc003mec.1_Silent_p.L83L	NM_173664	NP_775935	Q8N8L6	ARL10_HUMAN	Homo sapiens ADP-ribosylation factor-like 10 (ARL10), mRNA.	83							GTP binding			endometrium(2)|lung(1)|ovary(1)	4	all_cancers(89;0.0064)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.0965)		GGTGCTGGTGCTGGGGCTGGA	0.697000														12			6		0	0	1	0	0
FARP1	10160	broad.mit.edu	37	13	99047515	99047515	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:99047515G>A	uc001vnh.3	+	12	1438	c.1199G>A	c.(1198-1200)gGt>gAt	p.G400D	FARP1_uc001vnj.3_Missense_Mutation_p.G400D	NM_005766	NP_005757	Q9Y4F1	FARP1_HUMAN	Homo sapiens FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived) (FARP1), transcript variant 1, mRNA.	400					regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	Rho guanyl-nucleotide exchange factor activity|cytoskeletal protein binding			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			TTTGGAGAAGGTGCCGAATCT	0.617000														38			13		0	0	1	0	0
CAPSL	133690	broad.mit.edu	37	5	35921134	35921134	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:35921134C>T	uc003jjt.1	-	1	184	c.89G>A	c.(88-90)cGa>cAa	p.R30Q	CAPSL_uc003jju.1_Missense_Mutation_p.R30Q	NM_001042625	NP_653248	Q8WWF8	CAPSL_HUMAN	Homo sapiens calcyphosine-like (CAPSL), transcript variant 2, mRNA.	30						cytoplasm	calcium ion binding			central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(10)|skin(1)|urinary_tract(1)	19	all_lung(31;0.000268)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202)			GCACTGCAGTCGGAGTCTTTC	0.607000														39			16		0	0	1	0	0
C10orf27	219793	broad.mit.edu	37	10	72541718	72541718	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:72541718T>G	uc010qjm.1	-	3	506	c.116A>C	c.(115-117)aAa>aCa	p.K39T	C10orf27_uc001jrj.1_Missense_Mutation_p.K39T|C10orf27_uc009xqh.1_Non-coding_Transcript|C10orf27_uc010qjn.1_Missense_Mutation_p.K39T|C10orf27_uc009xqi.1_Non-coding_Transcript|C10orf27_uc010qjo.1_Missense_Mutation_p.K28T|C10orf27_uc009xqj.1_Missense_Mutation_p.K28T|C10orf27_uc010qjp.1_Missense_Mutation_p.K28T	NM_152710	NP_689923	Q96M53	SPATL_HUMAN	Homo sapiens chromosome 10 open reading frame 27 (C10orf27), mRNA.	39					cell differentiation|multicellular organismal development|spermatogenesis	cytosol				cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|skin(2)	16						CACCAGTTCTTTCTGTGGCCC	0.592000														46			37		0	0	1	0	0
SLC39A7	7922	broad.mit.edu	37	6	33169641	33169641	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:33169641C>A	uc003odf.3	+	2	648	c.531C>A	c.(529-531)tcC>tcA	p.S177S	RXRB_uc003odb.3_5'Flank|RXRB_uc003odc.3_5'Flank|RXRB_uc011dqr.2_5'Flank|RXRB_uc011dqs.1_5'Flank|RXRB_uc011dqt.1_5'Flank|RXRB_uc011dqu.1_5'Flank|SLC39A7_uc003odg.3_Silent_p.S177S|SLC39A7_uc011dqv.2_Silent_p.S52S|HSD17B8_uc003odi.1_5'Flank	NM_001077516	NP_008910	Q92504	S39A7_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 7 (SLC39A7), transcript variant 2, mRNA.	177						endoplasmic reticulum membrane|integral to membrane|membrane fraction	protein binding|zinc ion transmembrane transporter activity			NS(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						GTTTTGCTTCCGGTGGGCTCC	0.488000														123			9		0.000442599	0.000473562	1	1	0
PSMB11	122706	broad.mit.edu	37	14	23511605	23511605	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:23511605C>T	uc010ake.1	+	0	230	c.171C>T	c.(169-171)ttC>ttT	p.F57F		NM_001099780	NP_001093250	A5LHX3	PSB11_HUMAN	Homo sapiens proteasome (prosome, macropain) subunit, beta type, 11 (PSMB11), mRNA.	57					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity			endometrium(1)|kidney(2)|lung(4)	7	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00643)		CCTTCCGCTTCCGTCATGGAG	0.637000														44			4		0	0	1	0	0
FAM187B	148109	broad.mit.edu	37	19	35719072	35719072	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:35719072G>T	uc002nyk.1	-	0	557	c.512C>A	c.(511-513)cCt>cAt	p.P171H		NM_152481	NP_689694	Q17R55	F187B_HUMAN	Homo sapiens family with sequence similarity 187, member B (FAM187B), mRNA.	171						integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	9						TTCCTCCAGAGGCTCCTCAAT	0.617000														48			5		3.59834e-05	3.95114e-05	1	1	0
FAM83H	286077	broad.mit.edu	37	8	144808666	144808666	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:144808666C>T	uc003yzk.3	-	4	3034	c.2965G>A	c.(2965-2967)Gtg>Atg	p.V989M		NM_198488	NP_940890	Q6ZRV2	FA83H_HUMAN	Homo sapiens family with sequence similarity 83, member H (FAM83H), mRNA.	989					biomineral tissue development					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			TCCTGCGGCACTGGGAAGCCA	0.697000														10			5		0	0	1	0	0
KIAA1210	57481	broad.mit.edu	37	X	118227693	118227693	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:118227693C>T	uc004era.4	-	9	1420	c.1420G>A	c.(1420-1422)Gaa>Aaa	p.E474K		NM_020721	NP_065772	Q9ULL0	K1210_HUMAN	Homo sapiens KIAA1210 (KIAA1210), mRNA.	474										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						CTCTTTTCTTCTTCAGAAACC	0.443000														22			13		0	0	1	0	0
LYZL1	84569	broad.mit.edu	37	10	29599062	29599062	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:29599062G>T	uc001iul.3	+	3	517	c.460G>T	c.(460-462)Gat>Tat	p.D154Y		NM_032517	NP_115906	Q6UWQ5	LYZL1_HUMAN	Homo sapiens lysozyme-like 1 (LYZL1), mRNA.	108					cell wall macromolecule catabolic process	extracellular region	lysozyme activity			central_nervous_system(1)|cervix(2)|large_intestine(2)|lung(5)|skin(1)	11		Breast(68;0.203)				TGACCTCACAGATGCAATTAT	0.428000														49			26		1.08312e-15	1.366e-15	1	1	0
CDKL3	51265	broad.mit.edu	37	5	133541666	133541666	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:133541666C>T	uc003kze.3	-	1	657	c.259G>A	c.(259-261)Gtt>Att	p.V87I	CDKL3_uc011cxm.1_Missense_Mutation_p.V433I|CDKL3_uc011cxn.1_Non-coding_Transcript	NM_002715	NP_002706	Q8IVW4	CDKL3_HUMAN	Homo sapiens protein phosphatase 2, catalytic subunit, alpha isozyme (PPP2CA), mRNA.	0	Protein kinase.					cytoplasm	ATP binding|cyclin-dependent protein kinase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(3)	11			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CCTCTGTCAACATAATCTCCC	0.373000														54			5		0	0	1	0	0
RPS18	6222	broad.mit.edu	37	6	33244215	33244215	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:33244215G>A	uc003odp.1	+	5	476	c.431G>A	c.(430-432)cGc>cAc	p.R144H	RPS18_uc010jum.1_Non-coding_Transcript|B3GALT4_uc003odr.3_5'Flank	NM_022551	NP_072045	P62269	RS18_HUMAN	Homo sapiens ribosomal protein S18 (RPS18), mRNA.	144					endocrine pancreas development|ribosome biogenesis|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	rRNA binding|structural constituent of ribosome			kidney(2)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	9						CGCCGTGGCCGCACCGTGGGT	0.478000														23			6		0	0	1	0	0
ACER1	125981	broad.mit.edu	37	19	6309831	6309831	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:6309831C>T	uc002mel.2	-	3	443	c.365G>A	c.(364-366)cGc>cAc	p.R122H		NM_133492	NP_597999	Q8TDN7	ACER1_HUMAN	Homo sapiens alkaline ceramidase 1 (ACER1), mRNA.	122						endoplasmic reticulum membrane|integral to membrane	ceramidase activity	p.R122C(1)		NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)	15						GAAGACCAGGCGGATGAACTG	0.612000														21			14		0	0	1	0	0
PDGFD	80310	broad.mit.edu	37	11	103870925	103870925	+	Silent	SNP	G	A	A	rs148454316	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:103870925G>A	uc001phq.3	-	1	555	c.183C>T	c.(181-183)aaC>aaT	p.N61N	PDGFD_uc001php.3_Silent_p.N55N	NM_025208	NP_079484	Q9GZP0	PDGFD_HUMAN	Homo sapiens platelet derived growth factor D (PDGFD), transcript variant 1, mRNA.	61	CUB.				positive regulation of cell division	Golgi membrane|endoplasmic reticulum lumen|extracellular region	growth factor activity			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)		GCACGTAGCCGTTTCCTTTCA	0.488000														142			13		0	0	1	0	0
PARP4	143	broad.mit.edu	37	13	25009094	25009094	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:25009094G>A	uc001upl.3	-	30	4291	c.4185C>T	c.(4183-4185)ccC>ccT	p.P1395P		NM_006437	NP_006428	Q9UKK3	PARP4_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 4 (PARP4), mRNA.	1395					DNA repair|cell death|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|NAD+ ADP-ribosyltransferase activity|enzyme binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		TGCCACAATAGGGTGAAGAAG	0.552000														22			16		0	0	1	0	0
RBKS	64080	broad.mit.edu	37	2	28050435	28050435	+	Splice_Site	SNP	G	A	A	rs143709910		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:28050435G>A	uc002rlo.1	-	7	806	c.795_splice	c.e7+1	p.T265_splice	RBKS_uc010ezi.1_Splice_Site_p.T198_splice|RBKS_uc010ymg.2_Splice_Site_p.T265_splice	NM_022128	NP_071411	Q9H477	RBSK_HUMAN	Homo sapiens ribokinase (RBKS), mRNA.	265					D-ribose metabolic process		ATP binding|ribokinase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	7	Acute lymphoblastic leukemia(172;0.155)					AAAACTTACCGTGGTATCCAC	0.383000														43			27		0	0	1	0	0
VPS13C	54832	broad.mit.edu	37	15	62320617	62320617	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:62320617T>G	uc002agz.3	-	5	479	c.388A>C	c.(388-390)Aca>Cca	p.T130P	VPS13C_uc002aha.3_Intron|VPS13C_uc002ahb.2_Missense_Mutation_p.T130P|VPS13C_uc002ahc.2_Intron	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog C (S. cerevisiae) (VPS13C), transcript variant 2A, mRNA.	130					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						CCTGAATGTGTGCCTGCATCC	0.333000														48			21		0	0	1	0	0
CER1	9350	broad.mit.edu	37	9	14722362	14722362	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:14722362C>T	uc003zlj.3	-	0	354	c.309G>A	c.(307-309)gaG>gaA	p.E103E		NM_005454	NP_005445	O95813	CER1_HUMAN	Homo sapiens cerberus 1, cysteine knot superfamily, homolog (Xenopus laevis) (CER1), mRNA.	103					BMP signaling pathway	extracellular space	cytokine activity			endometrium(2)|large_intestine(3)|lung(6)	11				GBM - Glioblastoma multiforme(50;3.16e-06)		GTGGGAAGGGCTCACTATCTG	0.522000														32			14		0	0	1	0	0
AHDC1	27245	broad.mit.edu	37	1	27876628	27876628	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:27876628G>A	uc021ojw.1	-	0	1999	c.1999C>T	c.(1999-2001)Cgg>Tgg	p.R667W	AHDC1_uc009vsy.3_Missense_Mutation_p.R667W|AHDC1_uc009vsz.1_Missense_Mutation_p.R667W	NM_001029882	NP_001025053	Q5TGY3	AHDC1_HUMAN	Homo sapiens AT hook, DNA binding motif, containing 1 (AHDC1), mRNA.	667	Gly-rich.						DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		CCCCCACGCCGCCGGAAGCCC	0.672000														23			21		0	0	1	0	0
ATP2B3	492	broad.mit.edu	37	X	152821652	152821652	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:152821652A>G	uc004fht.1	+	11	2330	c.2204A>G	c.(2203-2205)gAg>gGg	p.E735G	ATP2B3_uc004fhs.1_Missense_Mutation_p.E735G	NM_001001344	NP_001001344	Q16720	AT2B3_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 3 (ATP2B3), transcript variant 2, mRNA.	735					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GAAGGGAAGGAGTTCAACCGG	0.657000														36			6		0	0	1	0	0
PAH	5053	broad.mit.edu	37	12	103310897	103310897	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:103310897C>T	uc001tjq.1	-	0	485	c.12G>A	c.(10-12)gcG>gcA	p.A4A	PAH_uc010swc.1_Silent_p.A4A	NM_000277	NP_000268	P00439	PH4H_HUMAN	Homo sapiens phenylalanine hydroxylase (PAH), mRNA.	4					L-phenylalanine catabolic process|catecholamine biosynthetic process|neurotransmitter biosynthetic process	cytosol	phenylalanine 4-monooxygenase activity			endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	TTTCCAGGACCGCAGTGGACA	0.577000														30			16		0	0	1	0	0
CYP4Z2P	163720	broad.mit.edu	37	1	47325249	47325249	+	RNA	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:47325249T>C	uc001cqo.1	-	8		c.1319A>G								Homo sapiens cytochrome P450, family 4, subfamily Z, polypeptide 2 pseudogene (CYP4Z2P), non-coding RNA.																		AAATAACTGTTAAAGACATGA	0.398000														13			5		0	0	1	0	0
AKR1A1	10327	broad.mit.edu	37	1	46034284	46034284	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:46034284T>C	uc021omx.1	+	7	1098	c.680T>C	c.(679-681)gTc>gCc	p.V227A	AKR1A1_uc021omy.1_Missense_Mutation_p.V227A|AKR1A1_uc001cod.3_Missense_Mutation_p.V227A|AKR1A1_uc001coe.3_Missense_Mutation_p.V227A|AKR1A1_uc001cof.3_Intron	NM_001202414	NP_001189343	P14550	AK1A1_HUMAN	Homo sapiens aldo-keto reductase family 1, member A1 (aldehyde reductase) (AKR1A1), transcript variant 3, mRNA.	227					glucose metabolic process		alditol:NADP+ 1-oxidoreductase activity|electron carrier activity|protein binding			lung(3)|prostate(1)|urinary_tract(1)	5	Acute lymphoblastic leukemia(166;0.155)					GATGAGCCTGTCCTGCTGGAG	0.557000														30			20		0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577139	7577139	+	Missense_Mutation	SNP	G	A	A	rs55832599		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7577139G>A	uc002gim.2	-	7	993	c.799C>T	c.(799-801)Cgg>Tgg	p.R267W	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.R267W|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R135W|TP53_uc010cnf.1_Missense_Mutation_p.R135W|TP53_uc002gii.1_Missense_Mutation_p.R135W|TP53_uc010cni.1_Missense_Mutation_p.R267W|TP53_uc010cnh.1_Missense_Mutation_p.R267W|TP53_uc002gij.2_Missense_Mutation_p.R267W|DL476366_uc021tpf.1_5'Flank|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	267	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> G (in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation; dbSNP:rs55832599).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.G266E(49)|p.R267W(48)|p.G266R(45)|p.G266V(36)|p.R267P(15)|p.G266*(13)|p.R267Q(10)|p.0?(8)|p.R267R(6)|p.G266fs*79(5)|p.G262_F270delGNLLGRNSF(4)|p.R267L(4)|p.G262_S269delGNLLGRNS(4)|p.G266_E271delGRNSFE(4)|p.?(3)|p.G266_N268delGRN(2)|p.G266A(2)|p.G266G(2)|p.R267G(2)|p.L265_K305del41(2)|p.L265_R267delLGR(2)|p.G266fs*4(2)|p.G266T(1)|p.E258fs*71(1)|p.G266fs*9(1)|p.G262fs*2(1)|p.R267fs*78(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)		AAGCTGTTCCGTCCCAGTAGA	0.522000		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)				16			6		0	0	1	0	0
CCDC40	55036	broad.mit.edu	37	17	78022390	78022390	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:78022390C>A	uc010dht.3	+	4	716	c.685C>A	c.(685-687)Cca>Aca	p.P229T	CCDC40_uc010wub.2_Missense_Mutation_p.P229T|CCDC40_uc021uem.1_Missense_Mutation_p.P229T|CCDC40_uc002jxm.4_Missense_Mutation_p.P12T	NM_017950	NP_060420	Q4G0X9	CCD40_HUMAN	Homo sapiens coiled-coil domain containing 40 (CCDC40), transcript variant 1, mRNA.	229					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			AGTGATCCCCCCAGGGGTGCC	0.617000														18			5		1.23904e-05	1.3743e-05	1	1	0
DDR1	780	broad.mit.edu	37	6	30860315	30860315	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:30860315C>T	uc003nrv.3	+	6	1137	c.1095C>T	c.(1093-1095)atC>atT	p.I365I	DDR1_uc010jse.3_Silent_p.I365I|DDR1_uc003nrq.3_Silent_p.I365I|DDR1_uc003nrr.3_Silent_p.I365I|DDR1_uc003nrs.3_Silent_p.I365I|DDR1_uc003nrt.3_Silent_p.I365I|DDR1_uc011dms.2_Silent_p.I383I|DDR1_uc003nru.3_Silent_p.I365I|DDR1_uc003nry.2_Silent_p.I365I|DDR1_uc003nrx.2_Silent_p.I365I|DDR1_uc003nrw.1_Silent_p.I164I	NM_013994	NP_054700	Q08345	DDR1_HUMAN	Homo sapiens discoidin domain receptor tyrosine kinase 1 (DDR1), transcript variant 3, mRNA.	365					cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	TCTCCTTCATCTCTGGTAAGC	0.537000														42			27		0	0	1	0	0
PPP1R14D	54866	broad.mit.edu	37	15	41107959	41107959	+	Splice_Site	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:41107959C>T	uc001zmz.3	-	5	557	c.489_splice	c.e5-1	p.R163_splice	PPP1R14D_uc001zmy.3_Splice_Site_p.A125_splice	NM_001130143	NP_001123615	Q9NXH3	PP14D_HUMAN	Homo sapiens protein phosphatase 1, regulatory (inhibitor) subunit 14D (PPP1R14D), transcript variant 2, mRNA.	0					regulation of phosphorylation	cytoplasm	protein phosphatase inhibitor activity			breast(1)|large_intestine(2)|lung(2)|skin(1)	6		all_cancers(109;6.29e-14)|all_epithelial(112;1.48e-11)|Lung NSC(122;5.77e-09)|all_lung(180;1.08e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.88e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		GAGATAAAAGCCTGAGGGAGA	0.562000														14			14		0	0	1	0	0
AFF3	3899	broad.mit.edu	37	2	100210453	100210453	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:100210453G>A	uc002taf.3	-	13	1889	c.1745C>T	c.(1744-1746)gCg>gTg	p.A582V	AFF3_uc002tag.3_Missense_Mutation_p.A557V|AFF3_uc010fiq.1_Missense_Mutation_p.A557V|AFF3_uc010yvr.1_Missense_Mutation_p.A710V|AFF3_uc002tah.1_Missense_Mutation_p.A582V	NM_001025108	NP_001020279	P51826	AFF3_HUMAN	Homo sapiens AF4/FMR2 family, member 3 (AFF3), transcript variant 2, mRNA.	557					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						TGCGCTCACCGCCACGGCCAC	0.721000														43			26		0	0	1	0	0
C12orf51	283450	broad.mit.edu	37	12	112621023	112621023	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:112621023G>A	uc021reb.1	-	61	10821	c.10425C>T	c.(10423-10425)aaC>aaT	p.N3475N		NM_001109662	NP_001103132			Homo sapiens chromosome 12 open reading frame 51 (C12orf51), mRNA.											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(6)|large_intestine(16)|lung(49)|ovary(4)|prostate(1)|urinary_tract(6)	100						AGTCATTATTGTTAAATAAAC	0.383000														80			58		0	0	1	0	0
SHANK3	85358	broad.mit.edu	37	22	51159495	51159495	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:51159495G>T	uc003bne.1	+	21	3282	c.3282G>T	c.(3280-3282)aaG>aaT	p.K1094N	SHANK3_uc003bnf.1_Missense_Mutation_p.K541N	NM_001080420	NP_001073889	F2Z3L0	F2Z3L0_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 3 (SHANK3), mRNA.	1094										central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		CTGCCCTGAAGCCGTTGGTCA	0.726000														8			6		0.0477658	0.0485825	1	1	0
SGPL1	8879	broad.mit.edu	37	10	72631635	72631635	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:72631635T>C	uc001jrm.3	+	10	1173	c.951T>C	c.(949-951)tgT>tgC	p.C317C	SGPL1_uc009xqk.3_Non-coding_Transcript	NM_003901	NP_003892	O95470	SGPL1_HUMAN	Homo sapiens sphingosine-1-phosphate lyase 1 (SGPL1), mRNA.	317					apoptosis|carboxylic acid metabolic process|ceramide metabolic process|sphingolipid catabolic process	integral to endoplasmic reticulum membrane	carboxy-lyase activity|pyridoxal phosphate binding|sphinganine-1-phosphate aldolase activity			large_intestine(4)	4					Pyridoxal Phosphate(DB00114)	TCGACGCTTGTCTGGGAGGCT	0.423000														116			12		0	0	1	0	0
B4GALNT2	124872	broad.mit.edu	37	17	47237959	47237959	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:47237959C>T	uc002ion.2	+	6	961	c.902C>T	c.(901-903)aCc>aTc	p.T301I	B4GALNT2_uc010wlt.1_Missense_Mutation_p.T215I|B4GALNT2_uc010wlu.1_Missense_Mutation_p.T241I	NM_153446	NP_001152860	Q8NHY0	B4GN2_HUMAN	Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 2 (B4GALNT2), transcript variant 1, mRNA.	301					UDP-N-acetylgalactosamine metabolic process|lipid glycosylation|negative regulation of cell-cell adhesion	integral to Golgi membrane	acetylgalactosaminyltransferase activity			endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24			all cancers(6;0.000316)			TTTCCAGTGACCATCCGCCAT	0.527000														193			13		0	0	1	0	0
RPRD2	23248	broad.mit.edu	37	1	150337373	150337373	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:150337373T>G	uc009wlr.3	+	0	384	c.183T>G	c.(181-183)caT>caG	p.H61Q	RPRD2_uc010pcc.1_Missense_Mutation_p.H61Q|RPRD2_uc001eup.4_Missense_Mutation_p.H61Q	NM_015203	NP_056018	Q5VT52	RPRD2_HUMAN	Homo sapiens regulation of nuclear pre-mRNA domain containing 2 (RPRD2), mRNA.	61	CID.						protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						TCGTCTATCATTGGATGAAGT	0.483000														48			4		0	0	1	0	0
PNCK	139728	broad.mit.edu	37	X	152936198	152936198	+	Splice_Site	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:152936198C>A	uc011myu.2	-	10	1329	c.1143_splice	c.e10+1	p.K381_splice	PNCK_uc011myt.2_Splice_Site_p.K315_splice|PNCK_uc004fhz.4_Splice_Site_p.K196_splice	NM_001039582	NP_001034671	Q6P2M8	KCC1B_HUMAN	Homo sapiens pregnancy up-regulated non-ubiquitously expressed CaM kinase (PNCK), transcript variant 1, mRNA.	298						cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|lung(3)|skin(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TCCACACTGACCTTCCAGTGT	0.607000														12			16		1.5739e-10	1.90488e-10	1	1	0
PLB1	151056	broad.mit.edu	37	2	28785917	28785917	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:28785917T>C	uc002rmb.2	+	17	1201	c.1157T>C	c.(1156-1158)cTg>cCg	p.L386P	PLB1_uc010ezj.2_Missense_Mutation_p.L397P|PLB1_uc002rmc.3_Missense_Mutation_p.L74P	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN	Homo sapiens phospholipase B1 (PLB1), transcript variant 1, mRNA.	386	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					GTTCATAGGCTGAAGCCGGCT	0.483000														54			7		0	0	1	0	0
SP110	3431	broad.mit.edu	37	2	231067397	231067397	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:231067397C>T	uc002vqg.3	-	8	1186	c.946G>A	c.(946-948)Gat>Aat	p.D316N	SP110_uc002vqh.3_Missense_Mutation_p.D316N|SP110_uc002vqi.4_Missense_Mutation_p.D316N|SP110_uc010fxk.3_Missense_Mutation_p.D314N|SP110_uc021vxx.1_Missense_Mutation_p.D322N|SP110_uc010fxj.3_Intron	NM_080424	NP_536349	Q9HB58	SP110_HUMAN	Homo sapiens SP110 nuclear body protein (SP110), transcript variant c, mRNA.	316					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|signal transducer activity|zinc ion binding			breast(4)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)		GGAACCTGATCCACCCTTTTG	0.453000														100			41		0	0	1	0	0
PAK3	5063	broad.mit.edu	37	X	110388120	110388120	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:110388120G>A	uc010npv.1	+	2	336	c.309G>A	c.(307-309)acG>acA	p.T103T	PAK3_uc010npt.1_Intron|PAK3_uc010npu.1_Intron|PAK3_uc004eoy.1_Intron|PAK3_uc004eoz.2_Intron|PAK3_uc011mst.1_Intron|PAK3_uc010npw.1_Silent_p.T103T|PAK3_uc004epa.2_Intron	NM_001128168	NP_001121640	O75914	PAK3_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 3 (PAK3), transcript variant 4, mRNA.	92	Autoregulatory region (By similarity).|GTPase-binding (By similarity).|Linker.				multicellular organismal development		ATP binding|SH3 domain binding|metal ion binding|protein serine/threonine kinase activity			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						GACCTGTGACGGTCGCTTCAA	0.368000										TSP Lung(19;0.15)				6			3		0	0	1	0	0
SDR9C7	121214	broad.mit.edu	37	12	57323240	57323240	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57323240G>A	uc010sqw.2	-	2	802	c.658C>T	c.(658-660)Cga>Tga	p.R220*		NM_148897	NP_683695	Q8NEX9	DR9C7_HUMAN	Homo sapiens short chain dehydrogenase/reductase family 9C, member 7 (SDR9C7), mRNA.	220						cytoplasm	binding|oxidoreductase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|pancreas(1)	7						CAAAGCTTTCGCATGCGTGAC	0.562000														65			6		0	0	1	0	0
ENC1	8507	broad.mit.edu	37	5	73931707	73931707	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:73931707G>T	uc003kdc.4	-	1	1735	c.604C>A	c.(604-606)Ctg>Atg	p.L202M	ENC1_uc011css.2_Missense_Mutation_p.L129M|ENC1_uc021yao.1_Missense_Mutation_p.L202M	NM_003633	NP_003624	O14682	ENC1_HUMAN	Homo sapiens ectodermal-neural cortex 1 (with BTB-like domain) (ENC1), mRNA.	202					nervous system development	cytoplasm|cytoskeleton|nuclear matrix	actin binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	20		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)		TCTGTCTCCAGCTCTTCACTG	0.483000														109			8		0.00448238	0.0046769	1	1	0
SPATC1	375686	broad.mit.edu	37	8	145094990	145094990	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:145094990C>T	uc011lkw.2	+	1	494	c.392C>T	c.(391-393)aCg>aTg	p.T131M	SPATC1_uc011lkx.2_Missense_Mutation_p.T131M	NM_198572	NP_940974	Q76KD6	SPERI_HUMAN	Homo sapiens spermatogenesis and centriole associated 1 (SPATC1), transcript variant 1, mRNA.	131										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)			CCAGCACCCACGTCACAGAGC	0.667000														11			8		0	0	1	0	0
SLC6A9	6536	broad.mit.edu	37	1	44468188	44468188	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:44468188G>A	uc001cll.3	-	6	1265	c.1073C>T	c.(1072-1074)gCc>gTc	p.A358V	SLC6A9_uc009vxe.2_Missense_Mutation_p.A214V|SLC6A9_uc010okm.1_Missense_Mutation_p.A285V|SLC6A9_uc001clm.3_Missense_Mutation_p.A304V|SLC6A9_uc009vxd.3_Non-coding_Transcript|SLC6A9_uc010okn.2_Missense_Mutation_p.A289V|SLC6A9_uc010oko.2_Missense_Mutation_p.A174V|SLC6A9_uc001cln.3_Missense_Mutation_p.A285V|SLC6A9_uc010okp.1_Non-coding_Transcript	NM_201649	NP_964012	P48067	SC6A9_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, glycine), member 9 (SLC6A9), transcript variant 2, mRNA.	358						integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	TCCCACCTTGGCCTCCAGGAT	0.637000														39			28		0	0	1	0	0
PANX2	56666	broad.mit.edu	37	22	50617667	50617667	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:50617667C>T	uc003bjn.4	+	2	1995	c.1995C>T	c.(1993-1995)ttC>ttT	p.F665F	PANX2_uc003bjp.4_Missense_Mutation_p.S503L|PANX2_uc003bjo.4_Missense_Mutation_p.S637L	NM_052839	NP_443071	Q96RD6	PANX2_HUMAN	Homo sapiens pannexin 2 (PANX2), transcript variant 1, mRNA.	665					protein hexamerization|synaptic transmission	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)	7		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.105)		TCGCCACCTTCGACGAGCCGA	0.692000														21			3		0	0	1	0	0
CASKIN1	57524	broad.mit.edu	37	16	2231312	2231312	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:2231312G>A	uc010bsg.1	-	17	2089	c.2057C>T	c.(2056-2058)cCg>cTg	p.P686L		NM_020764	NP_065815	Q8WXD9	CSKI1_HUMAN	Homo sapiens CASK interacting protein 1 (CASKIN1), mRNA.	686					signal transduction	cytoplasm				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						GGTGGCCCTCGGGGTGGGTGG	0.711000														1			6		0	0	1	0	0
PLEKHA2	59339	broad.mit.edu	37	8	38809772	38809772	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:38809772G>A	uc003xmi.4	+	6	809	c.575G>A	c.(574-576)cGt>cAt	p.R192H	PLEKHA2_uc011lce.2_Missense_Mutation_p.R142H	NM_021623	NP_067636	Q9HB19	PKHA2_HUMAN	Homo sapiens pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 2 (PLEKHA2), mRNA.	192					positive regulation of cell-matrix adhesion	cytoplasm|nucleus|plasma membrane|protein complex	fibronectin binding|laminin binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	13		all_lung(54;0.0413)|Lung NSC(58;0.115)|Hepatocellular(245;0.152)	LUSC - Lung squamous cell carcinoma(45;4.68e-08)|COAD - Colon adenocarcinoma(9;0.235)			TCAGGCTGCCGTGCTTCCACT	0.582000														9			7		0	0	1	0	0
AVPR1B	553	broad.mit.edu	37	1	206225082	206225082	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:206225082G>A	uc001hds.2	+	0	800	c.642G>A	c.(640-642)atG>atA	p.M214I		NM_000707	NP_000698	P47901	V1BR_HUMAN	Homo sapiens arginine vasopressin receptor 1B (AVPR1B), mRNA.	214					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2)	20			BRCA - Breast invasive adenocarcinoma(75;0.0312)		Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)	CGGTGACCATGCTCACGGCCT	0.617000														51			39		0	0	1	0	0
DYNC2H1	79659	broad.mit.edu	37	11	103048401	103048401	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:103048401T>C	uc001phn.1	+	37	6135	c.5991T>C	c.(5989-5991)tgT>tgC	p.C1997C	DYNC2H1_uc009yxe.1_Intron|DYNC2H1_uc001pho.2_Silent_p.C1997C	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	Homo sapiens dynein, cytoplasmic 2, heavy chain 1 (DYNC2H1), transcript variant 2, mRNA.	1997	AAA 2 (By similarity).				Golgi organization|cell projection organization|microtubule-based movement|multicellular organismal development	Golgi apparatus|cilium axoneme|dynein complex|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		CTGCGCTTTGTAAAACTGGCA	0.403000														44			15		0	0	1	0	0
ABCA10	10349	broad.mit.edu	37	17	67189381	67189381	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:67189381C>T	uc010dfa.1	-	15	2529	c.1650G>A	c.(1648-1650)ctG>ctA	p.L550L	ABCA10_uc010wqt.1_Non-coding_Transcript|ABCA10_uc010dfb.1_Silent_p.L151L	NM_080282	NP_525021	Q8WWZ4	ABCAA_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 10 (ABCA10), mRNA.	550	ABC transporter 1.				transport	integral to membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					GTTCATCTAGCAGCAAAACCT	0.448000														37			21		0	0	1	0	0
KIAA1958	158405	broad.mit.edu	37	9	115336718	115336718	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:115336718T>C	uc011lwx.1	+	1	533	c.358T>C	c.(358-360)Tgt>Cgt	p.C120R	KIAA1958_uc004bgf.1_Missense_Mutation_p.C120R	NM_133465	NP_597722	Q8N8K9	K1958_HUMAN	Homo sapiens KIAA1958 (KIAA1958), mRNA.	120										endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						CAGAGACTCTTGTGACTTCTC	0.473000														59			42		0	0	1	0	0
NAALAD2	10003	broad.mit.edu	37	11	89911126	89911126	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:89911126G>A	uc001pdf.4	+	15	1808	c.1699G>A	c.(1699-1701)Gct>Act	p.A567T	NAALAD2_uc009yvx.3_Missense_Mutation_p.A534T|NAALAD2_uc009yvy.3_Intron	NM_005467	NP_005458	Q9Y3Q0	NALD2_HUMAN	Homo sapiens N-acetylated alpha-linked acidic dipeptidase 2 (NAALAD2), mRNA.	567	NAALADase.				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				ACTTTCTGTGGCTCAATTACG	0.358000														102			11		0	0	1	0	0
LAMTOR3	8649	broad.mit.edu	37	4	100805267	100805267	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:100805267G>A	uc003hvg.2	-	5	502	c.253C>T	c.(253-255)Cgt>Tgt	p.R85C	LAMTOR3_uc003hvh.2_Missense_Mutation_p.R78C|LAMTOR3_uc003hvi.2_Non-coding_Transcript	NM_021970	NP_068805	Q9UHA4	LTOR3_HUMAN	Homo sapiens late endosomal/lysosomal adaptor, MAPK and MTOR activator 3 (LAMTOR3), transcript variant 1, mRNA.	85					cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade	Ragulator complex	protein binding			endometrium(1)|large_intestine(1)|lung(1)	3						AAAGGTAAACGATTAAATTGA	0.294000														32			16		0	0	1	0	0
USP54	159195	broad.mit.edu	37	10	75335382	75335382	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:75335382C>T	uc001juo.3	-	0	52	c.35G>A	c.(34-36)cGt>cAt	p.R12H	USP54_uc001jup.3_Missense_Mutation_p.R12H|USP54_uc010qkl.1_Missense_Mutation_p.R12H	NM_152586	NP_689799	Q70EL1	UBP54_HUMAN	Homo sapiens ubiquitin specific peptidase 54 (USP54), mRNA.	12					ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity	p.R12H(1)		breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					TACACTACCACGACCCCCTGA	0.453000														77			6		0	0	1	0	0
NCOR2	9612	broad.mit.edu	37	12	124817694	124817694	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:124817694C>A	uc021rga.1	-	41	6875	c.6758G>T	c.(6757-6759)gGg>gTg	p.G2253V	NCOR2_uc021rgb.1_Missense_Mutation_p.G2237V|NCOR2_uc010tbb.2_Missense_Mutation_p.G2246V|NCOR2_uc010tbc.2_Missense_Mutation_p.G2236V|NCOR2_uc021rgc.1_Missense_Mutation_p.G2236V|NCOR2_uc010tax.2_Missense_Mutation_p.G367V	NM_006312	NP_006303	Q9Y618	NCOR2_HUMAN	Homo sapiens nuclear receptor corepressor 2 (NCOR2), transcript variant 1, mRNA.	2257					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|Notch binding|histone deacetylase binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		CGTCTGTTCCCCATCCCGGTA	0.652000														40			7		5.18039e-06	5.80246e-06	1	1	0
NFKBIA	4792	broad.mit.edu	37	14	35871618	35871618	+	Silent	SNP	C	T	T	rs139180460		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:35871618C>T	uc001wtf.4	-	4	998	c.888G>A	c.(886-888)acG>acA	p.T296T		NM_020529	NP_065390	P25963	IKBA_HUMAN	Homo sapiens nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha (NFKBIA), mRNA.	296					MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T cell receptor signaling pathway|Toll signaling pathway|anti-apoptosis|apoptosis|cellular response to cold|cytoplasmic sequestering of NF-kappaB|innate immune response|interspecies interaction between organisms|negative regulation of DNA binding|negative regulation of NF-kappaB transcription factor activity|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of transcription from RNA polymerase II promoter|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	I-kappaB/NF-kappaB complex|cytosol|nucleus|plasma membrane	NF-kappaB binding|identical protein binding|nuclear localization sequence binding|ubiquitin protein ligase binding			breast(3)|endometrium(1)|large_intestine(2)|liver(1)	7	Breast(36;0.0484)|Hepatocellular(127;0.158)		Lung(238;9.25e-06)|LUAD - Lung adenocarcinoma(48;1.53e-05)|Epithelial(34;0.00314)|all cancers(34;0.00891)	GBM - Glioblastoma multiforme(112;0.0222)		CTGTGAACTCCGTGAACTCTG	0.552000														86			6		0	0	1	0	0
RAPGEF6	51735	broad.mit.edu	37	5	131039847	131039847	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:131039847C>A	uc003kvs.1	-	9	1169	c.1027G>T	c.(1027-1029)Gat>Tat	p.D343Y	RAPGEF6_uc003kvp.2_Intron|RAPGEF6_uc003kvt.1_Missense_Mutation_p.D315Y|RAPGEF6_uc010jdm.1_Missense_Mutation_p.D298Y|RAPGEF6_uc003kvu.3_Missense_Mutation_p.D343Y	NM_133372	NP_588613	Q8TEU7	RPGF6_HUMAN	Homo sapiens folliculin interacting protein 1 (FNIP1), transcript variant 1, mRNA.	0					Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|Ras GTPase binding|guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		TTATTTTCATCTTCATCTTTG	0.343000														47			21		5.35356e-11	6.51008e-11	1	1	0
ALS2CR11	151254	broad.mit.edu	37	2	202467966	202467966	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:202467966G>A	uc002uyf.3	-	2	403	c.351C>T	c.(349-351)tgC>tgT	p.C117C	ALS2CR11_uc002uye.3_Silent_p.C117C|ALS2CR11_uc010fti.3_Silent_p.C117C|ALS2CR11_uc021vvc.1_Silent_p.C117C	NM_001168221	NP_001161693	Q53TS8	AL2SA_HUMAN	Homo sapiens amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11 (ALS2CR11), transcript variant 1, mRNA.	117										NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						TAAAATGTCTGCAGTTCTTTA	0.333000														31			16		0	0	1	0	0
GRIK4	2900	broad.mit.edu	37	11	120831757	120831757	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:120831757G>A	uc001pxn.2	+	16	2301	c.2014G>A	c.(2014-2016)Gga>Aga	p.G672R	GRIK4_uc009zav.1_Missense_Mutation_p.G672R|GRIK4_uc009zaw.1_Missense_Mutation_p.G672R|GRIK4_uc009zax.1_Missense_Mutation_p.G672R	NM_014619	NP_055434	Q16099	GRIK4_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 4 (GRIK4), mRNA.	672					glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)	CACAATTCACGGAGGCTCCAG	0.522000														33			25		0	0	1	0	0
MAP2K3	5606	broad.mit.edu	37	17	21201737	21201737	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:21201737G>A	uc002gys.3	+	1	327	c.62G>A	c.(61-63)aGg>aAg	p.R21K	MAP2K3_uc002gyt.3_5'UTR|MAP2K3_uc021tsq.1_5'UTR|MAP2K3_uc021tsr.1_5'UTR	NM_145109	NP_002747	P46734	MP2K3_HUMAN	Homo sapiens mitogen-activated protein kinase kinase 3 (MAP2K3), transcript variant B, mRNA.	21					MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|innate immune response|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity								COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		AAATCCAAGAGGAAGAAGGAT	0.572000														192			49		0	0	1	0	0
OTOGL	283310	broad.mit.edu	37	12	80707353	80707353	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:80707353A>G	uc001szd.3	+	29	3527	c.3521A>G	c.(3520-3522)tAt>tGt	p.Y1174C		NM_173591	NP_775862			Homo sapiens otogelin-like (OTOGL), mRNA.											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						ATAGCTGCATATGCATACAAG	0.373000														63			6		0	0	1	0	0
NFXL1	152518	broad.mit.edu	37	4	47857181	47857181	+	Splice_Site	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:47857181C>T	uc010igh.3	-	20	2494	c.2317_splice	c.e20-1	p.L773_splice	NFXL1_uc003gxo.3_Splice_Site_p.L98_splice|NFXL1_uc003gxp.3_Splice_Site_p.L773_splice|NFXL1_uc003gxq.4_Splice_Site|NFXL1_uc010igi.3_Splice_Site_p.L773_splice	NM_152995	NP_694540	Q6ZNB6	NFXL1_HUMAN	Homo sapiens nuclear transcription factor, X-box binding-like 1 (NFXL1), mRNA.	773						integral to membrane|nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(4)	27						CACAAGGAAGCTAAAATAAAA	0.358000														47			26		0	0	1	0	0
HOXC5	3222	broad.mit.edu	37	12	54427291	54427291	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:54427291G>A	uc001sew.3	+	0	460	c.385G>A	c.(385-387)Gcc>Acc	p.A129T	HOXC5_uc001set.3_Intron|HOXC4_uc001seu.3_Intron|MIR615_uc021qyl.1_5'Flank	NM_018953	NP_061826	Q00444	HXC5_HUMAN	Homo sapiens homeobox C5 (HOXC5), transcript variant 1, mRNA.	129					regulation of transcription from RNA polymerase II promoter	cell junction|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(2)|urinary_tract(1)	12						AGGGCAGCCCGCCGGACTGAG	0.622000														6			5		0	0	1	0	0
HCAR1	27198	broad.mit.edu	37	12	123214100	123214100	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:123214100T>C	uc001ucz.3	-	0	1030	c.787A>G	c.(787-789)Acc>Gcc	p.T263A	HCAR1_uc001ucw.1_Non-coding_Transcript	NM_032554	NP_115943	Q9BXC0	HCAR1_HUMAN	Homo sapiens hydroxycarboxylic acid receptor 1 (HCAR1), mRNA.	263					response to estradiol stimulus	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(1)|kidney(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)	10						AAGCTGAGGGTTATGTGCAGG	0.522000														41			36		0	0	1	0	0
YIPF1	54432	broad.mit.edu	37	1	54348857	54348857	+	Nonsense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:54348857C>A	uc001cvu.3	-	3	495	c.124G>T	c.(124-126)Gga>Tga	p.G42*	YIPF1_uc001cvv.3_Non-coding_Transcript|YIPF1_uc001cvx.3_Non-coding_Transcript|YIPF1_uc001cvy.3_Non-coding_Transcript	NM_018982	NP_061855	Q9Y548	YIPF1_HUMAN	Homo sapiens Yip1 domain family, member 1 (YIPF1), transcript variant 1, mRNA.	42						integral to membrane|transport vesicle				endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|skin(1)|urinary_tract(2)	19						CTTGGGGATCCTGGCTGATGT	0.433000														106			8		1.26484e-09	1.50989e-09	1	1	0
YPEL2	388403	broad.mit.edu	37	17	57465709	57465709	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:57465709C>T	uc002ixm.1	+	2	467	c.139C>T	c.(139-141)Cga>Tga	p.R47*		NM_001005404	NP_001005404	Q96QA6	YPEL2_HUMAN	Homo sapiens yippee-like 2 (Drosophila) (YPEL2), mRNA.	47						nucleolus				endometrium(1)|large_intestine(1)|lung(3)	5	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)					AAGTCAAGGACGAGCATACCT	0.418000														136			12		0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34090742	34090742	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:34090742G>A	uc001bxm.1	-	33	5586	c.5409C>T	c.(5407-5409)tcC>tcT	p.S1803S	CSMD2_uc001bxn.1_Silent_p.S1763S|CSMD2_uc001bxo.1_Silent_p.S676S	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	1763	CUB 11.					integral to membrane|plasma membrane	protein binding	p.S1763S(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GGGCATAGCCGGAGTTGCATT	0.647000														35			20		0	0	1	0	0
INTS3	65123	broad.mit.edu	37	1	153730127	153730127	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:153730127G>A	uc009wom.3	+	10	1258	c.1037G>A	c.(1036-1038)cGc>cAc	p.R346H	INTS3_uc001fct.3_Missense_Mutation_p.R346H|INTS3_uc001fcu.3_Missense_Mutation_p.R38H|INTS3_uc001fcv.3_Missense_Mutation_p.R140H|INTS3_uc010peb.2_Missense_Mutation_p.R140H|INTS3_uc001fcw.3_5'UTR|INTS3_uc010pec.2_5'UTR	NM_023015	NP_075391	Q68E01	INT3_HUMAN	Homo sapiens integrator complex subunit 3 (INTS3), mRNA.	347					DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing	SOSS complex|integrator complex	protein binding	p.R346H(2)		breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CAGTCTCTGCGCTGTGACCTC	0.517000														56			56		0	0	1	0	0
SPATA13	221178	broad.mit.edu	37	13	24860369	24860369	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:24860369C>T	uc001upd.2	+	7	2897	c.2319C>T	c.(2317-2319)aaC>aaT	p.N773N	SPATA13_uc001upe.3_Non-coding_Transcript|SPATA13_uc021rhg.1_Silent_p.N773N|SPATA13_uc001upg.2_Silent_p.N148N|SPATA13_uc010tcy.1_Silent_p.N94N|SPATA13_uc010tcz.2_Silent_p.N94N|SPATA13_uc010tdb.2_Silent_p.N70N|SPATA13_uc010tda.2_Silent_p.N92N|SPATA13_uc001uph.3_Silent_p.N70N|SPATA13_uc009zzz.2_5'Flank	NM_153023	NP_694568	Q96N96	SPT13_HUMAN	Homo sapiens spermatogenesis associated 13 (SPATA13), transcript variant 2, mRNA.	148					cell migration|filopodium assembly|lamellipodium assembly|regulation of Rho protein signal transduction|regulation of cell migration	cytoplasm|filopodium|lamellipodium|ruffle membrane	Rac guanyl-nucleotide exchange factor activity|protein binding			breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)		GTGATGGCAACGTGGTCTGCG	0.587000														61			42		0	0	1	0	0
ASB6	140459	broad.mit.edu	37	9	132404200	132404200	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:132404200T>C	uc004byf.2	-	0	249	c.79A>G	c.(79-81)Atc>Gtc	p.I27V	ASB6_uc004bye.1_5'Flank|ASB6_uc010myx.2_Missense_Mutation_p.I27V|ASB6_uc004byg.2_Missense_Mutation_p.I27V|ASB6_uc011mbt.2_Silent_p.G8G	NM_017873	NP_060343	Q9NWX5	ASB6_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 6 (ASB6), transcript variant 1, mRNA.	27					intracellular signal transduction	cytoplasm				NS(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	15		Ovarian(14;0.00556)				GGGTCCTGGATCCCCAGGGAG	0.687000														16			11		0	0	1	0	0
RAD51B	5890	broad.mit.edu	37	14	68301880	68301880	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:68301880G>A	uc001xkf.2	+	3	359	c.282G>A	c.(280-282)ctG>ctA	p.L94L	RAD51B_uc010aqq.3_Silent_p.L94L|RAD51B_uc001xkd.3_Silent_p.L94L|RAD51B_uc010aqr.3_5'UTR|RAD51B_uc001xke.3_Silent_p.L94L|RAD51B_uc001xkg.2_Silent_p.L94L	NM_133509	NP_598193	O15315	RA51B_HUMAN	Homo sapiens RAD51 homolog B (S. cerevisiae) (RAD51B), transcript variant 3, mRNA.	94					DNA repair|blood coagulation|reciprocal meiotic recombination	nucleoplasm	ATP binding|DNA binding|DNA-dependent ATPase activity		HMGA2/RAD51B(11)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11						ACGAAGCCCTGCATGGTGGTG	0.418000								Direct reversal of damage						27			17		0	0	1	0	0
SLC25A28	81894	broad.mit.edu	37	10	101373480	101373480	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:101373480G>T	uc001kpx.2	-	1	622	c.493C>A	c.(493-495)Cct>Act	p.P165T	SLC25A28_uc021pwy.1_5'Flank|SLC25A28_uc021pwz.1_5'Flank|SLC25A28_uc001kpy.2_5'UTR|SLC25A28_uc009xwk.1_Missense_Mutation_p.P165T	NM_031212	NP_112489	Q96A46	MFRN2_HUMAN	Homo sapiens solute carrier family 25, member 28 (SLC25A28), mRNA.	165					ion transport|iron ion homeostasis	integral to membrane|mitochondrial inner membrane				endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|stomach(1)	11		Colorectal(252;0.234)		Epithelial(162;2.57e-10)|all cancers(201;2.01e-08)		TTGCCCCCAGGGTGGATTACA	0.522000														35			4		0.00909568	0.00940365	1	1	0
CXCR7	57007	broad.mit.edu	37	2	237489831	237489831	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:237489831G>A	uc021vys.1	+	0	723	c.723G>A	c.(721-723)gcG>gcA	p.A241A	CXCR7_uc010fyq.3_Silent_p.A241A|CXCR7_uc002vwd.3_Silent_p.A241A	NM_020311	NP_064707	P25106	CXCR7_HUMAN	Homo sapiens chemokine (C-X-C motif) receptor 7 (CXCR7), mRNA.	241					interspecies interaction between organisms	integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding	p.A241A(1)		central_nervous_system(1)|large_intestine(2)|skin(1)	4		Breast(86;0.000182)|Renal(207;0.00339)|all_hematologic(139;0.0048)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|all_lung(227;0.147)|all_neural(83;0.223)		Epithelial(121;8.35e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.09e-11)|Kidney(56;1.11e-07)|KIRC - Kidney renal clear cell carcinoma(57;3.03e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000176)|Lung(119;0.00468)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.118)		CCATCTCGGCGTCCAGTGACC	0.592000														40			29		0	0	1	0	0
BTAF1	9044	broad.mit.edu	37	10	93784717	93784717	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:93784717G>A	uc001khr.3	+	34	5166	c.5068G>A	c.(5068-5070)Gtt>Att	p.V1690I		NM_003972	NP_003963	O14981	BTAF1_HUMAN	Homo sapiens BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa (Mot1 homolog, S. cerevisiae) (BTAF1), mRNA.	1690	Helicase C-terminal.				negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				GCATTCCATTGTTTCCCGGTA	0.373000														79			10		0	0	1	0	0
MACC1	346389	broad.mit.edu	37	7	20199790	20199790	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:20199790T>G	uc003sus.4	-	4	503	c.194A>C	c.(193-195)aAt>aCt	p.N65T	MACC1_uc010kug.3_Missense_Mutation_p.N65T	NM_182762	NP_877439	Q6ZN28	MACC1_HUMAN	Homo sapiens metastasis associated in colon cancer 1 (MACC1), mRNA.	65					positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity			endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						CCAGAATGGATTTGCAACTTT	0.378000														44			61		0	0	1	0	0
FEM1C	56929	broad.mit.edu	37	5	114860793	114860793	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:114860793G>A	uc003krb.1	-	2	1628	c.1066C>T	c.(1066-1068)Cga>Tga	p.R356*	FEM1C_uc021ycp.1_Nonsense_Mutation_p.R63*	NM_020177	NP_064562	Q96JP0	FEM1C_HUMAN	Homo sapiens fem-1 homolog c (C. elegans) (FEM1C), mRNA.	356						cytoplasm				breast(5)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	18		all_cancers(142;0.000575)|all_epithelial(76;9.98e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;2.5e-07)|Epithelial(69;2.66e-07)|all cancers(49;1.39e-05)		TTGATGCATCGTTTGAAATTT	0.403000														84			52		0	0	1	0	0
ADAM28	10863	broad.mit.edu	37	8	24188819	24188819	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:24188819C>A	uc003xdy.3	+	11	1343	c.1260C>A	c.(1258-1260)gaC>gaA	p.D420E	ADAM28_uc003xdx.3_Missense_Mutation_p.D420E|ADAM28_uc011kzz.2_Missense_Mutation_p.D187E|ADAM28_uc011laa.2_Non-coding_Transcript|ADAM28_uc010lua.3_Missense_Mutation_p.D107E	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN	Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA.	420	Disintegrin.				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		TGGGAGAGGACTGTGATTGTG	0.393000														30			15		0.000422831	0.000453626	1	1	0
GORASP2	26003	broad.mit.edu	37	2	171822497	171822497	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:171822497G>A	uc002ugk.3	+	9	2031	c.1216G>A	c.(1216-1218)Gct>Act	p.A406T	GORASP2_uc002ugj.3_Missense_Mutation_p.A338T|GORASP2_uc010zdl.2_Missense_Mutation_p.A418T|GORASP2_uc010zdm.2_Missense_Mutation_p.A362T|GORASP2_uc002ugl.3_Missense_Mutation_p.A338T|GORASP2_uc002ugm.3_Missense_Mutation_p.A188T	NM_015530	NP_056345	Q9H8Y8	GORS2_HUMAN	Homo sapiens golgi reassembly stacking protein 2, 55kDa (GORASP2), transcript variant 1, mRNA.	406						Golgi membrane				breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	14						AAAGGCAGACGCTGCCTCCTC	0.637000														32			17		0	0	1	0	0
TRA	0	broad.mit.edu	37	14	22192368	22192368	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:22192368G>A	uc021rpa.1	+	1	271	c.143G>A	c.(142-144)gGa>gAa	p.G48E	TRA_uc001wbn.2_Non-coding_Transcript|TRA_uc021rpb.1_5'Flank					Homo sapiens mRNA for T cell receptor alpha variable 3, partial cds, clone: SEB 36.																		TCAGTCTCTGGAAACCCTTAT	0.493000														52			24		0	0	1	0	0
TOR1B	27348	broad.mit.edu	37	9	132569618	132569618	+	Missense_Mutation	SNP	G	A	A	rs142420082		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:132569618G>A	uc004byk.1	+	2	677	c.617G>A	c.(616-618)cGc>cAc	p.R206H		NM_014506	NP_055321	O14657	TOR1B_HUMAN	Homo sapiens torsin family 1, member B (torsin B) (TOR1B), mRNA.	206					chaperone mediated protein folding requiring cofactor|response to unfolded protein	endoplasmic reticulum lumen	ATP binding|nucleoside-triphosphatase activity|unfolded protein binding			endometrium(3)|kidney(1)|large_intestine(1)|lung(7)	12		Ovarian(14;0.0586)				GTGTCTTACCGCAAAGCCATC	0.478000														68			43		0	0	1	0	0
WDR36	134430	broad.mit.edu	37	5	110441018	110441018	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:110441018T>G	uc003kpd.3	+	9	1337	c.1220T>G	c.(1219-1221)tTt>tGt	p.F407C	WDR36_uc010jbu.3_Non-coding_Transcript	NM_139281	NP_644810	Q8NI36	WDR36_HUMAN	Homo sapiens WD repeat domain 36 (WDR36), mRNA.	407					rRNA processing|response to stimulus|visual perception	small-subunit processome				cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)		CTTCAGTCATTTTCCACGGTA	0.348000														82			8		0	0	1	0	0
PTPN4	5775	broad.mit.edu	37	2	120690017	120690017	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:120690017T>C	uc002tmf.1	+	13	1859	c.1088T>C	c.(1087-1089)tTg>tCg	p.L363S	PTPN4_uc010flj.1_Missense_Mutation_p.L76S|PTPN4_uc010yyr.1_5'UTR	NM_002830	NP_002821	P29074	PTN4_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte) (PTPN4), mRNA.	363						cytoplasm|cytoskeleton|internal side of plasma membrane	cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity			endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30					Alendronate(DB00630)	AGTAAGCCCTTGGCACGGAAA	0.353000														31			3		0	0	1	0	0
KCNT2	343450	broad.mit.edu	37	1	196451510	196451510	+	Splice_Site	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:196451510C>A	uc001gtd.1	-	4	336	c.276_splice	c.e4-1	p.W92_splice	KCNT2_uc001gte.1_Splice_Site_p.W92_splice|KCNT2_uc001gtf.1_Splice_Site_p.W92_splice|KCNT2_uc001gtg.1_Splice_Site|KCNT2_uc009wyu.3_Splice_Site_p.W92_splice|KCNT2_uc009wyv.1_Splice_Site_p.W92_splice	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	Homo sapiens potassium channel, subfamily T, member 2 (KCNT2), mRNA.	92						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						GATATGAGACCTATAAAAAGA	0.269000														15			4		0.00909568	0.00940365	1	1	0
NIN	51199	broad.mit.edu	37	14	51245488	51245488	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:51245488G>A	uc001wyi.3	-	5	661	c.470C>T	c.(469-471)gCg>gTg	p.A157V	NIN_uc001wyj.3_Non-coding_Transcript|NIN_uc001wym.2_Missense_Mutation_p.A157V|NIN_uc001wyk.3_Missense_Mutation_p.A157V|NIN_uc001wyo.3_Missense_Mutation_p.A157V|NIN_uc001wyp.1_Missense_Mutation_p.A119V	NM_020921	NP_065972	Q8N4C6	NIN_HUMAN	Homo sapiens ninein (GSK3B interacting protein) (NIN), transcript variant 2, mRNA.	157					centrosome localization	centrosome|microtubule	GTP binding|calcium ion binding|protein binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					CTTACCTTCCGCTTCATACTC	0.522000			T	PDGFRB	MPD									56			43		0	0	1	0	0
SARM1	23098	broad.mit.edu	37	17	26715466	26715466	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:26715466G>A	uc010crl.1	+	8	1892	c.1825G>A	c.(1825-1827)Gtc>Atc	p.V609I	SARM1_uc010waj.1_Non-coding_Transcript|SARM1_uc002hbe.1_Missense_Mutation_p.V155I	NM_015077	NP_055892	Q6SZW1	SARM1_HUMAN	Homo sapiens sterile alpha and TIR motif containing 1 (SARM1), mRNA.	611	TIR.				innate immune response	cytoplasm|intrinsic to membrane	binding|transmembrane receptor activity			cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	12	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		CATCCAGAGTGTCATGGGTGC	0.527000														64			31		0	0	1	0	0
ZBED1	9189	broad.mit.edu	37	X	2407352	2407352	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:2407352T>C	uc022brx.1	-	0	1409	c.1409A>G	c.(1408-1410)aAc>aGc	p.N470S	DHRSX_uc004cqf.4_Intron|ZBED1_uc004cqh.2_Missense_Mutation_p.N470S|ZBED1_uc004cqg.2_Missense_Mutation_p.N470S|ZBED1_uc022brw.1_Missense_Mutation_p.N470S	NM_004729	NP_004720	O96006	ZBED1_HUMAN	Homo sapiens zinc finger, BED-type containing 1 (ZBED1), transcript variant 2, mRNA.	470						nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity			endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GGTGGCCACGTTGAGAAACAT	0.612000														77			55		0	0	1	0	0
WDR83OS	51398	broad.mit.edu	37	19	12779410	12779410	+	Missense_Mutation	SNP	C	T	T	rs144906540		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:12779410C>T	uc002mud.2	-	2	426	c.178G>A	c.(178-180)Gct>Act	p.A60T	MAN2B1_uc010dyv.1_5'Flank|MAN2B1_uc002mub.2_5'Flank|WDR83_uc002muc.3_Non-coding_Transcript|WDR83_uc002mue.4_5'UTR|WDR83_uc010dyw.3_5'Flank	NM_016145	NP_057229	Q9Y284	CS056_HUMAN	Homo sapiens WD repeat domain 83 opposite strand (WDR83OS), mRNA.	60						integral to membrane											CAGTAGACAGCGACCCAAGCA	0.522000														11			5		0	0	1	0	0
DAXX	1616	broad.mit.edu	37	6	33286883	33286883	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:33286883C>A	uc003oec.3	-	6	2258	c.2054G>T	c.(2053-2055)aGg>aTg	p.R685M	ZBTB22_uc003oeb.3_5'Flank|ZBTB22_uc010juu.3_5'Flank|ZBTB22_uc021ywm.1_5'Flank|DAXX_uc021ywn.1_Intron|DAXX_uc021ywo.1_Intron|DAXX_uc011dre.2_Missense_Mutation_p.R697M|DAXX_uc003oed.3_Missense_Mutation_p.R685M|DAXX_uc011drd.2_Missense_Mutation_p.R610M	NM_001350	NP_001241646	Q9UER7	DAXX_HUMAN	Homo sapiens death-domain associated protein (DAXX), transcript variant 2, mRNA.	685	Interaction with SPOP.				activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	PML body|chromosome, centromeric region|cytosol|nucleolus	androgen receptor binding|heat shock protein binding|p53 binding|protein N-terminus binding|protein homodimerization activity|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						AGAGTCCACCCTCGTGGAGGA	0.602000			"""Mis, F, N"""		Pancreatic neuroendocrine tumors. Paediatric GBM									84			11		0.0135373	0.0139797	1	1	0
HSD17B13	345275	broad.mit.edu	37	4	88238285	88238285	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:88238285T>C	uc003hqo.2	-	2	472	c.409A>G	c.(409-411)Att>Gtt	p.I137V	HSD17B13_uc010ikk.2_Missense_Mutation_p.I101V	NM_178135	NP_835236	Q7Z5P4	DHB13_HUMAN	Homo sapiens hydroxysteroid (17-beta) dehydrogenase 13 (HSD17B13), transcript variant A, mRNA.	137						extracellular region	binding|oxidoreductase activity			endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	8		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.000308)		GTCTTGGTAATCTCTTCATCC	0.403000														80			11		0	0	1	0	0
LCT	3938	broad.mit.edu	37	2	136594306	136594306	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:136594306T>C	uc002tuu.1	-	0	445	c.434A>G	c.(433-435)gAa>gGa	p.E145G		NM_002299	NP_002290	P09848	LPH_HUMAN	Homo sapiens lactase (LCT), mRNA.	145	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		AGCAAAGGCTTCGGTTCTCCG	0.597000														39			6		0	0	1	0	0
THOC6	79228	broad.mit.edu	37	16	3075971	3075971	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:3075971C>A	uc002ctb.2	+	2	498	c.202C>A	c.(202-204)Ccg>Acg	p.P68T	HCFC1R1_uc002csx.1_5'Flank|HCFC1R1_uc002csy.1_5'Flank|HCFC1R1_uc002csz.1_5'Flank|THOC6_uc002ctd.2_Missense_Mutation_p.P68T|THOC6_uc002cta.2_Missense_Mutation_p.P44T	NM_024339	NP_077315	Q86W42	THOC6_HUMAN	Homo sapiens THO complex 6 homolog (Drosophila) (THOC6), transcript variant 1, mRNA.	68					RNA splicing|intronless viral mRNA export from host nucleus|mRNA processing	THO complex part of transcription export complex	RNA binding			central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	13						AAGTAAGAAGCCGGTGGTGAC	0.542000														134			19		1.45105e-14	1.81895e-14	1	1	0
ELMO1	9844	broad.mit.edu	37	7	36927174	36927174	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:36927174G>A	uc022abv.1	-	17	2415	c.1705C>T	c.(1705-1707)Cgg>Tgg	p.R569W	ELMO1_uc003tfi.2_Missense_Mutation_p.R89W|ELMO1_uc003tfj.2_Missense_Mutation_p.R89W|ELMO1_uc011kbb.2_Intron|ELMO1_uc011kbc.2_Missense_Mutation_p.R473W|ELMO1_uc003tfk.2_Missense_Mutation_p.R569W|ELMO1_uc010kxg.2_Missense_Mutation_p.R569W	NM_001206482	NP_001193411	Q92556	ELMO1_HUMAN	Homo sapiens engulfment and cell motility 1 (ELMO1), transcript variant 5, mRNA.	569	PH.				Rac protein signal transduction|actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						CCTTGCCTCCGCCGGGCATTG	0.512000														42			5		0	0	1	0	0
AARSD1	80755	broad.mit.edu	37	17	41107181	41107181	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:41107181C>T	uc010whg.2	-	12	1723	c.1377G>A	c.(1375-1377)ctG>ctA	p.L459L	AARSD1_uc002icd.3_Silent_p.L398L	NM_001136042	NP_079543	Q9BTE6	AASD1_HUMAN	Homo sapiens alanyl-tRNA synthetase domain containing 1 (AARSD1), transcript variant 1, mRNA.	285					alanyl-tRNA aminoacylation	cytoplasm	ATP binding|alanine-tRNA ligase activity|metal ion binding|nucleic acid binding	p.G458C(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|skin(1)	17		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.161)		TCACCTTCTGCAGGATCTTGG	0.512000														66			6		0	0	1	0	0
DNAI1	27019	broad.mit.edu	37	9	34517367	34517367	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:34517367G>A	uc003zum.3	+	18	2096	c.1903G>A	c.(1903-1905)Gtg>Atg	p.V635M		NM_012144	NP_036276	Q9UI46	DNAI1_HUMAN	Homo sapiens dynein, axonemal, intermediate chain 1 (DNAI1), mRNA.	635					cell projection organization	cilium axoneme|cytoplasm|dynein complex|microtubule	motor activity			autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1)	34	all_epithelial(49;0.244)		LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)		GCTCACCCACGTGCAGTTCAA	0.532000									Kartagener syndrome					12			15		0	0	1	0	0
PLSCR1	5359	broad.mit.edu	37	3	146246561	146246561	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:146246561G>A	uc003evx.4	-	3	540	c.152C>T	c.(151-153)gCc>gTc	p.A51V	PLSCR1_uc011bnn.2_Intron|PLSCR1_uc003evz.4_Intron|PLSCR1_uc003ewa.2_Missense_Mutation_p.A51V	NM_021105	NP_066928	O15162	PLS1_HUMAN	Homo sapiens phospholipid scramblase 1 (PLSCR1), mRNA.	51					phospholipid scrambling|platelet activation|response to virus	integral to membrane|plasma membrane	SH3 domain binding|calcium ion binding|phospholipid scramblase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15						TGAATGGCCGGCTGGTGGGGG	0.522000														23			14		0	0	1	0	0
ZFC3H1	196441	broad.mit.edu	37	12	72027072	72027072	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:72027072C>T	uc001swo.2	-	12	3016	c.2657G>A	c.(2656-2658)aGa>aAa	p.R886K		NM_144982	NP_659419	O60293	ZC3H1_HUMAN	Homo sapiens zinc finger, C3H1-type containing (ZFC3H1), mRNA.	886					RNA processing	intracellular	metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CAAAAACATTCTGTTAACATT	0.299000														12			7		0	0	1	0	0
EIF2B5	8893	broad.mit.edu	37	3	183855492	183855492	+	Silent	SNP	C	T	T	rs4496517		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:183855492C>T	uc003fmp.3	+	2	769	c.405C>T	c.(403-405)ctC>ctT	p.L135L	EIF2B5_uc003fmq.3_5'UTR	NM_003907	NP_003898	Q13144	EI2BE_HUMAN	Homo sapiens eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa (EIF2B5), mRNA.	135					RNA metabolic process|astrocyte development|myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|positive regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex|nucleus	guanyl-nucleotide exchange factor activity|transferase activity|translation initiation factor activity|translation initiation factor binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(5)|urinary_tract(1)	27	all_cancers(143;7.59e-11)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			GAGATGTCCTCCGTGATGTTG	0.483000														37			25		0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57599399	57599399	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57599399C>T	uc001snd.3	+	74	11995	c.11529C>T	c.(11527-11529)ggC>ggT	p.G3843G		NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	3843	EGF-like 15.				aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	ACACCAAGGGCGGCCACCTCT	0.617000														39			20		0	0	1	0	0
NLRP11	204801	broad.mit.edu	37	19	56312942	56312942	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:56312942G>T	uc010ygf.2	-	6	2878	c.2167C>A	c.(2167-2169)Ctg>Atg	p.L723M	NLRP11_uc002qlz.3_Missense_Mutation_p.L570M|NLRP11_uc002qmb.3_Missense_Mutation_p.L624M|NLRP11_uc002qmc.3_Non-coding_Transcript|NLRP11_uc010ete.1_Non-coding_Transcript	NM_145007	NP_659444	P59045	NAL11_HUMAN	Homo sapiens NLR family, pyrin domain containing 11 (NLRP11), mRNA.	723							ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		ACTCACCTCAGATGACTTATT	0.488000														53			25		5.61819e-17	7.14049e-17	1	1	0
AFF1	4299	broad.mit.edu	37	4	88036337	88036337	+	Silent	SNP	C	T	T	rs140176505	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:88036337C>T	uc011ccz.2	+	11	2627	c.2352C>T	c.(2350-2352)ccC>ccT	p.P784P	AFF1_uc003hqj.4_Silent_p.P777P|AFF1_uc003hqk.4_Silent_p.P777P|AFF1_uc011cda.2_Silent_p.P415P	NM_001166693	NP_001160165	P51825	AFF1_HUMAN	Homo sapiens AF4/FMR2 family, member 1 (AFF1), transcript variant 1, mRNA.	777						nucleus	sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		CCCAGCCTCCCGGGAAGGGGA	0.587000														22			11		0	0	1	0	0
IGSF10	285313	broad.mit.edu	37	3	151165238	151165238	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:151165238G>T	uc011bod.2	-	3	2531	c.2531C>A	c.(2530-2532)cCt>cAt	p.P844H		NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	Homo sapiens immunoglobulin superfamily, member 10 (IGSF10), transcript variant 1, mRNA.	844					cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ATTCACAACAGGAGAGAATTC	0.388000														210			30		5.60225e-13	6.94765e-13	1	1	0
CADPS	8618	broad.mit.edu	37	3	62385245	62385245	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:62385245A>G	uc003dll.2	-	29	4258	c.3898T>C	c.(3898-3900)Ttc>Ctc	p.F1300L	CADPS_uc003dlj.1_Missense_Mutation_p.F255L|CADPS_uc003dlk.1_Missense_Mutation_p.F748L|CADPS_uc003dlm.2_Missense_Mutation_p.F1261L|CADPS_uc003dln.2_Missense_Mutation_p.F1221L|CADPS_uc021wzv.1_Missense_Mutation_p.F1291L	NM_003716	NP_003707	Q9ULU8	CAPS1_HUMAN	Homo sapiens Ca++-dependent secretion activator (CADPS), transcript variant 1, mRNA.	1300	Mediates targeting and association with DCVs (By similarity).				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		TGCAATCGGAAATCTCTGTAG	0.488000														45			32		0	0	1	0	0
DLGAP4	22839	broad.mit.edu	37	20	35155232	35155232	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:35155232C>T	uc002xff.3	+	12	3203	c.2768C>T	c.(2767-2769)cCc>cTc	p.P923L	DLGAP4_uc010zvp.2_Missense_Mutation_p.P923L|DLGAP4_uc002xfg.3_Missense_Mutation_p.P219L|DLGAP4_uc002xfh.3_Missense_Mutation_p.P387L|DLGAP4_uc002xfi.3_3'UTR|DLGAP4_uc002xfj.3_Missense_Mutation_p.P219L|BC039668_uc002xfk.3_Intron	NM_014902	NP_055717	Q9Y2H0	DLGP4_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 4 (DLGAP4), transcript variant 1, mRNA.	926					cell-cell signaling	membrane	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				AAGAAACCACCCCCTCCGGTC	0.562000														5			6		0	0	1	0	0
LRIT3	345193	broad.mit.edu	37	4	110790846	110790846	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:110790846G>T	uc003hzx.4	+	2	999	c.806G>T	c.(805-807)aGc>aTc	p.S269I	LRIT3_uc003hzw.4_Missense_Mutation_p.S131I	NM_198506	NP_940908	Q3SXY7	LRIT3_HUMAN	Homo sapiens leucine-rich repeat, immunoglobulin-like and transmembrane domains 3 (LRIT3), mRNA.	269	Ig-like.					integral to membrane				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	16				OV - Ovarian serous cystadenocarcinoma(123;0.0011)		TCCATAATGAGCTTGACAGGC	0.433000														77			31		2.46105e-21	3.1844e-21	1	1	0
MEX3C	51320	broad.mit.edu	37	18	48703078	48703078	+	Silent	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:48703078A>C	uc002lfc.4	-	1	1984	c.1623T>G	c.(1621-1623)acT>acG	p.T541T		NM_016626	NP_057710	Q5U5Q3	MEX3C_HUMAN	Homo sapiens mex-3 homolog C (C. elegans) (MEX3C), mRNA.	541						cytoplasm|nucleus	RNA binding|zinc ion binding			endometrium(2)|large_intestine(2)|lung(11)|ovary(1)|skin(1)	17		Colorectal(6;0.003)|all_epithelial(6;0.0473)		Colorectal(16;0.0175)|READ - Rectum adenocarcinoma(32;0.15)		ACAGACGAGGAGTAGATGGCT	0.507000														32			12		0	0	1	0	0
RALGAPA1	253959	broad.mit.edu	37	14	36219826	36219826	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:36219826G>T	uc001wtj.3	-	8	1264	c.873C>A	c.(871-873)atC>atA	p.I291I	RALGAPA1_uc001wti.3_Silent_p.I291I|RALGAPA1_uc010tpv.2_Silent_p.I291I|RALGAPA1_uc010tpw.1_Silent_p.I291I|RALGAPA1_uc001wtk.1_Silent_p.I142I	NM_194301	NP_919277	Q6GYQ0	RGPA1_HUMAN	Homo sapiens Ral GTPase activating protein, alpha subunit 1 (catalytic) (RALGAPA1), transcript variant 2, mRNA.	291					activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	Ral GTPase activator activity|protein heterodimerization activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TTGTACAATAGATTGCTTCAT	0.413000														40			16		0.000422831	0.000453626	1	1	0
NT5C1B-RDH14	100526794	broad.mit.edu	37	2	18766032	18766032	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:18766032G>T	uc010exr.3	-	3	589	c.477C>A	c.(475-477)gcC>gcA	p.A159A	NT5C1B-RDH14_uc002rcy.3_Silent_p.A217A|NT5C1B-RDH14_uc010yju.2_Silent_p.A157A|NT5C1B-RDH14_uc002rcz.3_Silent_p.A217A|NT5C1B-RDH14_uc010yjw.2_Silent_p.A200A|NT5C1B-RDH14_uc010yjv.2_Silent_p.A234A|NT5C1B-RDH14_uc010exs.3_Silent_p.A219A|NT5C1B-RDH14_uc002rda.3_Silent_p.A157A|U6_uc021vej.1_5'Flank|NT5C1B-RDH14_uc002rdb.1_Silent_p.A9A	NM_001199103	NP_001186032	Q96P26	5NT1B_HUMAN	Homo sapiens NT5C1B-RDH14 readthrough (NT5C1B-RDH14), transcript variant 1, mRNA.	217	Pro-rich.|Ser-rich.				purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding										CGATGCCTTGGGCCCAGGCCT	0.692000														10			5		0.000602214	0.000641151	1	1	0
ARHGEF9	23229	broad.mit.edu	37	X	62875507	62875507	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:62875507C>A	uc004dvl.2	-	7	2006	c.1167G>T	c.(1165-1167)aaG>aaT	p.K389N	ARHGEF9_uc011mos.1_Missense_Mutation_p.K368N|ARHGEF9_uc004dvk.1_Missense_Mutation_p.K207N|ARHGEF9_uc004dvm.1_Missense_Mutation_p.K368N|ARHGEF9_uc004dvj.2_Missense_Mutation_p.K287N|ARHGEF9_uc011mot.2_Missense_Mutation_p.K336N|ARHGEF9_uc004dvn.3_Missense_Mutation_p.K396N	NM_015185	NP_001166951	O43307	ARHG9_HUMAN	Homo sapiens Cdc42 guanine nucleotide exchange factor (GEF) 9 (ARHGEF9), transcript variant 1, mRNA.	389	PH.				apoptosis|induction of apoptosis by extracellular signals|ion transmembrane transport|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol	Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|skin(1)	35						TAAAGGCATTCTTCATGCTGA	0.443000														98			66		1.17253e-29	1.54578e-29	1	1	0
STK31	56164	broad.mit.edu	37	7	23808768	23808768	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:23808768T>C	uc003sws.4	+	11	1638	c.1571T>C	c.(1570-1572)gTa>gCa	p.V524A	STK31_uc003swt.4_Missense_Mutation_p.V501A|STK31_uc011jze.2_Missense_Mutation_p.V524A|STK31_uc010kuq.3_Missense_Mutation_p.V501A	NM_031414	NP_116562	Q9BXU1	STK31_HUMAN	Homo sapiens serine/threonine kinase 31 (STK31), transcript variant 1, mRNA.	524							ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						CACCGTCTTGTAGCATGGTTC	0.378000														94			39		0	0	1	0	0
STAM2	10254	broad.mit.edu	37	2	152977162	152977162	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:152977162C>A	uc002tyc.4	-	13	1854	c.1504G>T	c.(1504-1506)Ggc>Tgc	p.G502C		NM_005843	NP_005834	O75886	STAM2_HUMAN	Homo sapiens signal transducing adaptor molecule (SH3 domain and ITAM motif) 2 (STAM2), mRNA.	502					cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	protein binding			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)	16				BRCA - Breast invasive adenocarcinoma(221;0.22)		ACCGGAAAGCCTGCCAGTTGA	0.448000														51			34		1.90571e-15	2.4006e-15	1	1	0
NANS	54187	broad.mit.edu	37	9	100843121	100843121	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:100843121C>T	uc004ayc.3	+	4	759	c.627C>T	c.(625-627)gaC>gaT	p.D209D	TRIM14_uc004ayd.2_Intron|NANS_uc004aye.1_Silent_p.D57D	NM_018946	NP_061819	Q9NR45	SIAS_HUMAN	Homo sapiens N-acetylneuraminic acid synthase (NANS), mRNA.	209					lipopolysaccharide biosynthetic process	cytoplasm	N-acetylneuraminate synthase activity|N-acylneuraminate cytidylyltransferase activity|N-acylneuraminate-9-phosphate synthase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	11		Acute lymphoblastic leukemia(62;0.0559)				TCTTTCCTGACATTCCCATAG	0.428000														115			7		0	0	1	0	0
FLRT2	23768	broad.mit.edu	37	14	86087934	86087934	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:86087934C>T	uc021rxf.1	+	0	76	c.76C>T	c.(76-78)Ctc>Ttc	p.L26F	FLRT2_uc001xvr.3_Missense_Mutation_p.L26F|FLRT2_uc010atd.3_Missense_Mutation_p.L26F	NM_013231	NP_037363	O43155	FLRT2_HUMAN	Homo sapiens fibronectin leucine rich transmembrane protein 2 (FLRT2), mRNA.	26					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		TTCCCTGGGGCTCTACTCACA	0.507000														41			35		0	0	1	0	0
DPP6	1804	broad.mit.edu	37	7	154172024	154172024	+	Splice_Site	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:154172024C>T	uc003wlk.3	+	3	488	c.359_splice	c.e3-1	p.A120_splice	DPP6_uc003wli.3_Splice_Site_p.A56_splice|DPP6_uc003wlj.3_Splice_Site_p.A120_splice|DPP6_uc010lqh.1_Splice_Site_p.A58_splice|DPP6_uc003wlm.3_Splice_Site_p.A58_splice|DPP6_uc011kvq.2_Splice_Site_p.A58_splice	NM_130797	NP_570629	P42658	DPP6_HUMAN	Homo sapiens dipeptidyl-peptidase 6 (DPP6), transcript variant 1, mRNA.	120					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			TTTTTTCTAGCGGAAGATAAT	0.343000														48			10		0	0	1	0	0
C16orf87	388272	broad.mit.edu	37	16	46836914	46836914	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:46836914C>T	uc002eek.1	-	3	428	c.415G>A	c.(415-417)Gcc>Acc	p.A139T		NM_001001436	NP_001001436	Q6PH81	CP087_HUMAN	Homo sapiens chromosome 16 open reading frame 87 (C16orf87), mRNA.	139										large_intestine(4)|urinary_tract(1)	5						TCTGCCAAGGCGACTGAAAAC	0.328000														28			22		0	0	1	0	0
ABCB8	11194	broad.mit.edu	37	7	150739132	150739132	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:150739132G>A	uc003wil.4	+	14	1846	c.1753G>A	c.(1753-1755)Gcc>Acc	p.A585T	ABCB8_uc010lpw.1_3'UTR|ABCB8_uc010lpx.3_Missense_Mutation_p.A568T|ABCB8_uc011kvd.2_Missense_Mutation_p.A480T|ABCB8_uc003wim.4_Missense_Mutation_p.A363T|ABCB8_uc003wik.4_Missense_Mutation_p.A568T	NM_007188	NP_009119	Q9NUT2	ABCB8_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 8 (ABCB8), nuclear gene encoding mitochondrial protein, mRNA.	585	ABC transporter.					ATP-binding cassette (ABC) transporter complex|integral to membrane|membrane fraction|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GTACACAGCCGCCCGGGAAGC	0.607000														66			25		0	0	1	0	0
DLL4	54567	broad.mit.edu	37	15	41228901	41228901	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:41228901G>A	uc001zng.2	+	8	2052	c.1716G>A	c.(1714-1716)tcG>tcA	p.S572S		NM_019074	NP_061947	Q9NR61	DLL4_HUMAN	Homo sapiens delta-like 4 (Drosophila) (DLL4), mRNA.	572					Notch receptor processing|Notch signaling pathway|blood circulation|cell communication|cell differentiation	integral to membrane|plasma membrane	Notch binding|calcium ion binding			breast(3)|large_intestine(1)	4		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		ACAACTTGTCGGACTTCCAGA	0.587000														25			13		0	0	1	0	0
CCDC130	81576	broad.mit.edu	37	19	13873665	13873665	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:13873665C>A	uc002mxc.1	+	9	1191	c.974C>A	c.(973-975)gCt>gAt	p.A325D	MRI1_uc002mxe.3_5'Flank|MRI1_uc002mxf.3_5'Flank	NM_030818	NP_110445	P13994	CC130_HUMAN	Homo sapiens coiled-coil domain containing 130 (CCDC130), mRNA.	325					response to virus		protein binding			endometrium(2)|kidney(1)|large_intestine(3)|ovary(1)|skin(2)|urinary_tract(1)	10			OV - Ovarian serous cystadenocarcinoma(19;6.02e-23)|Epithelial(5;2.58e-18)			CCAGAGGAGGCTGCCCAGGAC	0.701000														8			3		0.004672	0.00486265	1	1	0
KRT12	3859	broad.mit.edu	37	17	39019766	39019766	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:39019766C>T	uc002hvk.2	-	4	1090	c.1066G>A	c.(1066-1068)Gag>Aag	p.E356K		NM_000223	NP_000214	Q99456	K1C12_HUMAN	Homo sapiens keratin 12 (KRT12), mRNA.	356	Coil 2.|Rod.				visual perception	intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	15		Breast(137;0.000301)				AGCTCGATCTCCAGGTTCTGA	0.547000														26			21		0	0	1	0	0
PMPCB	9512	broad.mit.edu	37	7	102944426	102944426	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:102944426G>A	uc003vbk.1	+	4	629	c.595G>A	c.(595-597)Gcc>Acc	p.A199T	PMPCB_uc010liu.1_Missense_Mutation_p.A199T|PMPCB_uc003vbl.3_Missense_Mutation_p.A199T|PMPCB_uc011kll.1_Missense_Mutation_p.A94T|PMPCB_uc011klm.1_Missense_Mutation_p.A74T	NM_004279	NP_004270	O75439	MPPB_HUMAN	Homo sapiens peptidase (mitochondrial processing) beta (PMPCB), nuclear gene encoding mitochondrial protein, mRNA.	199					proteolysis	mitochondrial matrix	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(9)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TTATCTTCATGCCACAGCTTA	0.373000														67			6		0	0	1	0	0
HARBI1	283254	broad.mit.edu	37	11	46637525	46637525	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:46637525C>T	uc001ncy.3	-	1	511	c.263G>A	c.(262-264)cGg>cAg	p.R88Q	ATG13_uc009yld.3_5'Flank|ATG13_uc001nda.3_5'Flank|ATG13_uc001ndb.3_5'Flank|ATG13_uc001ncz.3_5'Flank|ATG13_uc001ndc.3_5'Flank|ATG13_uc010rgv.2_5'Flank	NM_173811	NP_776172	Q96MB7	HARB1_HUMAN	Homo sapiens harbinger transposase derived 1 (HARBI1), mRNA.	88						cytoplasm|nucleus	metal ion binding|nuclease activity			large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)	3						ATCTCCCATCCGAGTCTGGAA	0.502000														72			37		0	0	1	0	0
CABLES1	91768	broad.mit.edu	37	18	20837319	20837319	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:20837319C>T	uc002kuc.2	+	9	1890	c.1890C>T	c.(1888-1890)gtC>gtT	p.V630V	TMEM241_uc010xaq.2_Intron|CABLES1_uc002kub.2_Silent_p.V133V|CABLES1_uc002kud.2_Silent_p.V365V	NM_001100619	NP_001094089	Q8TDN4	CABL1_HUMAN	Homo sapiens Cdk5 and Abl enzyme substrate 1 (CABLES1), transcript variant 2, mRNA.	630					blood coagulation|cell cycle|cell division|regulation of cell cycle|regulation of cell division	cytosol|nucleus	cyclin-dependent protein kinase regulator activity|protein binding			breast(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)	11	all_cancers(21;0.000102)|all_epithelial(16;2.48e-06)|Lung NSC(20;0.00696)|all_lung(20;0.0197)|Colorectal(14;0.0202)|Ovarian(20;0.127)					GACGGCTGGTCCAGAGTTCCT	0.532000														21			20		0	0	1	0	0
PRKCA	5578	broad.mit.edu	37	17	64684476	64684476	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:64684476A>G	uc002jfo.1	+	7	848	c.356A>G	c.(355-357)gAt>gGt	p.D119G	PRKCA_uc002jfp.1_Missense_Mutation_p.D248G			P17252	KPCA_HUMAN	Homo sapiens protein kinase C, alpha (PRKCA), mRNA.	248					activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission	cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane	ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Phosphatidylserine(DB00144)|Vitamin E(DB00163)	TGGGACTGGGATCGAACAACA	0.463000														40			31		0	0	1	0	0
RNF19A	25897	broad.mit.edu	37	8	101299988	101299988	+	Missense_Mutation	SNP	G	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:101299988G>C	uc003yjj.1	-	2	732	c.415C>G	c.(415-417)Cat>Gat	p.H139D	RNF19A_uc003yjk.1_Missense_Mutation_p.H139D|RNF19A_uc003yjl.1_Missense_Mutation_p.H139D	NM_015435	NP_904355	Q9NV58	RN19A_HUMAN	Homo sapiens ring finger protein 19A (RNF19A), transcript variant 2, mRNA.	139					microtubule cytoskeleton organization|protein modification process	centrosome|integral to membrane	ligase activity|transcription factor binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	30	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)			TCTTTAGAATGCCGCAAAAGG	0.378000														99			35		0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	228012194	228012194	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:228012194C>T	uc021vxr.1	-	0	107	c.6G>A	c.(4-6)tgG>tgA	p.W2*	COL4A4_uc021vxs.1_Nonsense_Mutation_p.W2*	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	2					axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		TGTGCAGAGACCACATCGCAG	0.448000														133			73		0	0	1	0	0
MMEL1	79258	broad.mit.edu	37	1	2522446	2522446	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:2522446G>A	uc001ajy.2	-	23	2537	c.2323C>T	c.(2323-2325)Cga>Tga	p.R775*	FAM213B_uc021oew.1_Non-coding_Transcript|FAM213B_uc021oex.1_3'UTR|FAM213B_uc001ajw.2_3'UTR|FAM213B_uc001ajv.2_3'UTR|FAM213B_uc001aju.2_3'UTR|FAM213B_uc010nzd.2_3'UTR|FAM213B_uc010nze.2_3'UTR|FAM213B_uc010nzf.2_3'UTR|FAM213B_uc001ajx.2_3'UTR|MMEL1_uc009vlg.1_Non-coding_Transcript	NM_033467	NP_258428	Q495T6	MMEL1_HUMAN	Homo sapiens membrane metallo-endopeptidase-like 1 (MMEL1), mRNA.	775					proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		ACGCGGCATCGCTCCTTGGGG	0.701000														7			6		0	0	1	0	0
APBB2	323	broad.mit.edu	37	4	41015610	41015610	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:41015610C>T	uc003gvn.3	-	5	1455	c.825G>A	c.(823-825)ccG>ccA	p.P275P	APBB2_uc003gvl.3_Silent_p.P275P|APBB2_uc003gvm.3_Silent_p.P275P|APBB2_uc011byt.1_Silent_p.P258P	NM_004307	NP_004298	Q92870	APBB2_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family B, member 2 (APBB2), transcript variant 1, mRNA.	275					cell cycle arrest|intracellular signal transduction|negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|regulation of transcription, DNA-dependent	growth cone|lamellipodium|membrane|nucleus|synapse	beta-amyloid binding|transcription factor binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						CTGTTTCATCCGGGGAGCTGG	0.512000														167			14		0	0	1	0	0
FAM189B	10712	broad.mit.edu	37	1	155220472	155220472	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155220472G>A	uc001fjm.3	-	8	1711	c.1105C>T	c.(1105-1107)Cgc>Tgc	p.R369C	FAM189B_uc009wql.3_Missense_Mutation_p.R171C|FAM189B_uc001fjn.3_Missense_Mutation_p.R273C|FAM189B_uc001fjo.3_Missense_Mutation_p.R351C|FAM189B_uc001fjp.3_Intron	NM_006589	NP_006580	P81408	F189B_HUMAN	Homo sapiens family with sequence similarity 189, member B (FAM189B), transcript variant 1, mRNA.	369						integral to membrane	WW domain binding			breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23						GCACGGCTGCGCTGGATGGAG	0.706000											OREG0013858	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		16			12		0	0	1	0	0
KCNC2	3747	broad.mit.edu	37	12	75441976	75441976	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:75441976C>T	uc001sxg.1	-	3	2281	c.1737G>A	c.(1735-1737)acG>acA	p.T579T	KCNC2_uc009zry.3_Silent_p.T579T|KCNC2_uc001sxe.3_Silent_p.T579T|KCNC2_uc001sxf.3_Intron|KCNC2_uc010stw.1_Intron	NM_139137	NP_631875	Q96PR1	KCNC2_HUMAN	Homo sapiens potassium voltage-gated channel, Shaw-related subfamily, member 2 (KCNC2), transcript variant 2, mRNA.	579					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						AATCACCTGTCGTCAGTAGGA	0.468000														144			77		0	0	1	0	0
CLCNKA	1187	broad.mit.edu	37	1	16374441	16374441	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:16374441G>A	uc001axx.4	+	4	536	c.400G>A	c.(400-402)Gtc>Atc	p.V134I	CLCNKA_uc021ogl.1_Intron|CLCNKA_uc021ogm.1_5'Flank|CLCNKA_uc001axy.4_5'Flank	NM_000085	NP_000076	P51800	CLCKA_HUMAN	Homo sapiens chloride channel Kb (CLCNKB), transcript variant 1, mRNA.	134					excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	GGCGGGTGTGGTCTTGGAGGA	0.582000														33			33		0	0	1	0	0
SAMD8	142891	broad.mit.edu	37	10	76924436	76924436	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:76924436G>A	uc001jwx.2	+	2	715	c.612G>A	c.(610-612)acG>acA	p.T204T	SAMD8_uc001jwy.2_Silent_p.T204T	NM_001174156	NP_001167627	Q96LT4	SAMD8_HUMAN	Homo sapiens sterile alpha motif domain containing 8 (SAMD8), transcript variant 1, mRNA.	204					sphingomyelin biosynthetic process	integral to membrane		p.T204T(2)|p.T267T(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	12	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					TTGCCATGACGGAAGTATGTG	0.398000														55			28		0	0	1	0	0
SMAD7	4092	broad.mit.edu	37	18	46476188	46476188	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:46476188C>T	uc002ldg.3	-	0	894	c.607G>A	c.(607-609)Gaa>Aaa	p.E203K	SMAD7_uc010xde.2_5'Flank|SMAD7_uc021ujr.1_Missense_Mutation_p.E203K	NM_005904	NP_005895	O15105	SMAD7_HUMAN	Homo sapiens SMAD family member 7 (SMAD7), transcript variant 1, mRNA.	203	MH1.				BMP signaling pathway|adherens junction assembly|artery morphogenesis|cellular protein complex localization|negative regulation of BMP signaling pathway|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of peptidyl-serine phosphorylation|negative regulation of peptidyl-threonine phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of ubiquitin-protein ligase activity|pathway-restricted SMAD protein phosphorylation|positive regulation of anti-apoptosis|positive regulation of cell-cell adhesion|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein stabilization|regulation of activin receptor signaling pathway|response to laminar fluid shear stress|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	centrosome|cytosol|nucleolus|plasma membrane|transcription factor complex	I-SMAD binding|activin binding|beta-catenin binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	10	Colorectal(1;0.0518)					TCACCTAGTTCGCAGAGTCGG	0.567000											OREG0024975	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		10			5		0	0	1	0	0
HDX	139324	broad.mit.edu	37	X	83724245	83724245	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:83724245A>G	uc011mqv.2	-	3	733	c.486T>C	c.(484-486)tgT>tgC	p.C162C	HDX_uc004eel.2_Silent_p.C104C|HDX_uc004eek.2_Silent_p.C162C	NM_001177479	NP_001170949	Q7Z353	HDX_HUMAN	Homo sapiens highly divergent homeobox (HDX), transcript variant 1, mRNA.	162						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						AAGCATTTTTACAGTGTGCTA	0.353000														133			13		0	0	1	0	0
CNTNAP1	8506	broad.mit.edu	37	17	40843236	40843236	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:40843236G>A	uc002iay.3	+	13	2357	c.2141G>A	c.(2140-2142)cGc>cAc	p.R714H	CNTNAP1_uc010wgs.2_Non-coding_Transcript	NM_003632	NP_003623	P78357	CNTP1_HUMAN	Homo sapiens contactin associated protein 1 (CNTNAP1), mRNA.	714	Fibrinogen C-terminal.				axon guidance|cell adhesion	paranode region of axon	SH3 domain binding|SH3/SH2 adaptor activity|receptor activity|receptor binding			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		GGGATCCAGCGCTGTGCCTGT	0.617000														93			54		0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11790177	11790177	+	Silent	SNP	C	T	T	rs151325104	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:11790177C>T	uc002gne.3	+	56	11075	c.11007C>T	c.(11005-11007)aaC>aaT	p.N3669N	DNAH9_uc010coo.3_Silent_p.N2963N|DNAH9_uc002gnf.3_5'UTR|DNAH9_uc010vvh.1_Silent_p.N22N	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	3669					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TGAAAATCAACGAGGCCCGAG	0.522000														37			22		0	0	1	0	0
FLNC	2318	broad.mit.edu	37	7	128488685	128488685	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:128488685G>A	uc003vnz.4	+	26	4860	c.4651G>A	c.(4651-4653)Gcc>Acc	p.A1551T	FLNC_uc003voa.4_Missense_Mutation_p.A1551T	NM_001458	NP_001449	Q14315	FLNC_HUMAN	Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.	1551					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	p.N1550N(1)		biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						AGGCCTCAACGCCTCTGGCAT	0.622000														114			21		0	0	1	0	0
KLHL30	377007	broad.mit.edu	37	2	239057697	239057697	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:239057697G>A	uc002vxr.2	+	6	1496	c.1389G>A	c.(1387-1389)tcG>tcA	p.S463S		NM_198582	NP_940984	Q0D2K2	KLH30_HUMAN	Homo sapiens kelch-like 30 (Drosophila) (KLHL30), mRNA.	463										lung(4)	4		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		ACCTGTCCTCGCCTCGCTGTG	0.652000														18			3		0	0	1	0	0
ZNF229	7772	broad.mit.edu	37	19	44933907	44933907	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:44933907C>A	uc002oze.1	-	5	1483	c.1049G>T	c.(1048-1050)aGa>aTa	p.R350I	ZNF229_uc010ejk.1_Missense_Mutation_p.R4I|ZNF229_uc010ejl.1_Missense_Mutation_p.R344I	NM_014518	NP_055333	Q9UJW7	ZN229_HUMAN	Homo sapiens zinc finger protein 229 (ZNF229), mRNA.	350					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				GACATCACATCTATAGGGCAT	0.507000														49			34		1.06647e-15	1.3456e-15	1	1	0
BRAF	673	broad.mit.edu	37	7	140500184	140500184	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:140500184C>T	uc003vwc.4	-	6	1019	c.958G>A	c.(958-960)Gca>Aca	p.A320T		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	320					activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding		SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	GAGGCGGGTGCGGAAGGGGAT	0.493000		61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome					42			50		0	0	1	0	0
SMARCA4	6597	broad.mit.edu	37	19	11145688	11145688	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:11145688C>T	uc010dxp.3	+	29	4410	c.4050C>T	c.(4048-4050)gaC>gaT	p.D1350D	SMARCA4_uc010dxo.3_Silent_p.D1350D|SMARCA4_uc002mqf.4_Silent_p.D1350D|SMARCA4_uc010dxq.3_Silent_p.D1317D|SMARCA4_uc010dxr.3_Silent_p.D1317D|SMARCA4_uc002mqj.4_Silent_p.D1317D|SMARCA4_uc010dxs.3_Silent_p.D1317D|SMARCA4_uc010dxt.1_Silent_p.D537D|SMARCA4_uc002mqh.4_Silent_p.D440D|SMARCA4_uc002mqi.1_Silent_p.D520D	NM_001128844	NP_003063	P51532	SMCA4_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 (SMARCA4), transcript variant 2, mRNA.	1350					chromatin remodeling|negative regulation of S phase of mitotic cell cycle|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex|WINAC complex|nBAF complex|npBAF complex|nuclear chromatin	ATP binding|DNA binding|DNA-dependent ATPase activity|androgen receptor binding|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				TCATCAAGGACGACGCGGAGG	0.667000			"""F, N, Mis"""		NSCLC									7			7		0	0	1	0	0
FLNA	2316	broad.mit.edu	37	X	153592534	153592534	+	Splice_Site	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153592534C>A	uc004fkk.2	-	15	2386	c.2137_splice	c.e15-1	p.D713_splice	FLNA_uc010nuu.1_Splice_Site_p.D713_splice	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	Homo sapiens filamin A, alpha (FLNA), transcript variant 2, mRNA.	713					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	Fc-gamma receptor I complex binding|GTP-Ral binding|Rac GTPase binding|actin filament binding|glycoprotein binding|protein homodimerization activity|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTTCATTGTCCTGTCAGGCAG	0.627000														96			7		0.000157383	0.000170012	1	1	0
POLM	27434	broad.mit.edu	37	7	44113534	44113534	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:44113534T>C	uc003tjt.3	-	8	1254	c.1162A>G	c.(1162-1164)Agt>Ggt	p.S388G	POLM_uc003tju.3_Missense_Mutation_p.S351G|POLM_uc003tjv.3_Non-coding_Transcript|POLM_uc003tjx.2_Missense_Mutation_p.S308G|POLM_uc011kbt.1_Missense_Mutation_p.S38G	NM_013284	NP_037416	Q9NP87	DPOLM_HUMAN	Homo sapiens polymerase (DNA directed), mu (POLM), mRNA.	388					DNA recombination|DNA repair	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(3)|skin(2)	22						ATGCAGAAACTTCTCTCAAAA	0.612000								DNA polymerases (catalytic subunits)						59			24		0	0	1	0	0
PTPN14	5784	broad.mit.edu	37	1	214556744	214556744	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:214556744C>A	uc001hkk.2	-	12	3107	c.2454G>T	c.(2452-2454)gaG>gaT	p.E818D	PTPN14_uc021piy.1_Missense_Mutation_p.E582D|PTPN14_uc010pty.2_Missense_Mutation_p.E719D	NM_005401	NP_005392	Q15678	PTN14_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 14 (PTPN14), mRNA.	818					lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		TTTTGACCCGCTCCTTCACAC	0.552000														74			11		6.40141e-05	6.99953e-05	1	1	0
GRM8	2918	broad.mit.edu	37	7	126173165	126173165	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:126173165G>T	uc003vlr.2	-	7	2582	c.2271C>A	c.(2269-2271)atC>atA	p.I757I	GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Silent_p.I757I|GRM8_uc010lkz.1_Non-coding_Transcript	NM_000845	NP_000836	O00222	GRM8_HUMAN	Homo sapiens glutamate receptor, metabotropic 8 (GRM8), transcript variant 1, mRNA.	757					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		p.I757V(2)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	CCATCAAGAGGATACTGTATC	0.443000										HNSCC(24;0.065)				29			12		1.08611e-07	1.25606e-07	1	1	0
ATRIP	84126	broad.mit.edu	37	3	48501694	48501694	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:48501694C>A	uc003ctf.1	+	7	1273	c.1241C>A	c.(1240-1242)cCt>cAt	p.P414H	ATRIP_uc011bbj.1_Missense_Mutation_p.P287H|ATRIP_uc003ctg.1_Missense_Mutation_p.P414H|TREX1_uc010hjy.3_5'UTR	NM_130384	NP_569055	Q8WXE1	ATRIP_HUMAN	Homo sapiens ATR interacting protein (ATRIP), transcript variant 1, mRNA.	414					DNA damage checkpoint|DNA repair|DNA replication	nucleoplasm	protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)	22				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TGCCAGCTTCCTGGAGCCGTG	0.592000								Other conserved DNA damage response genes						112			9		1.12685e-05	1.25391e-05	1	1	0
KIAA0196	9897	broad.mit.edu	37	8	126044599	126044599	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:126044599C>T	uc003yrt.3	-	26	3548	c.3219G>A	c.(3217-3219)tgG>tgA	p.W1073*	KIAA0196_uc011lir.2_Nonsense_Mutation_p.W925*	NM_014846	NP_055661	Q12768	STRUM_HUMAN	Homo sapiens KIAA0196 (KIAA0196), mRNA.	1073					cell death	WASH complex				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			CAAGTGGTGGCCAATCAACCG	0.522000														69			9		0	0	1	0	0
LRRC4B	94030	broad.mit.edu	37	19	51021413	51021413	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:51021413G>A	uc002pss.3	-	2	1694	c.1557C>T	c.(1555-1557)gaC>gaT	p.D519D		NM_001080457	NP_001073926	Q9NT99	LRC4B_HUMAN	Homo sapiens leucine rich repeat containing 4B (LRRC4B), mRNA.	519	Gly-rich.					cell junction|integral to membrane|presynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		CCCAGACACCGTCTGTCGTGG	0.741000														6			8		0	0	1	0	0
ABCC5	10057	broad.mit.edu	37	3	183683285	183683285	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:183683285G>A	uc003fmg.3	-	12	2003	c.1838C>T	c.(1837-1839)aCg>aTg	p.T613M	ABCC5_uc011bqt.2_Missense_Mutation_p.T141M|ABCC5_uc010hxl.3_Missense_Mutation_p.T613M	NM_005688	NP_005679	O15440	MRP5_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 5 (ABCC5), transcript variant 1, mRNA.	613	ABC transporter 1.					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			CTCTAGAAGCGTCATCTAGGG	0.512000														42			12		0	0	1	0	0
CNTD1	124817	broad.mit.edu	37	17	40951108	40951108	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:40951108G>A	uc002ibm.4	+	0	255	c.23G>A	c.(22-24)cGa>cAa	p.R8Q	CCDC56_uc010wgz.1_5'Flank|CCDC56_uc002ibl.3_5'Flank|CNTD1_uc010wha.2_Intron	NM_173478	NP_775749	Q8N815	CNTD1_HUMAN	Homo sapiens cyclin N-terminal domain containing 1 (CNTD1), mRNA.	8										central_nervous_system(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		ATGAGGCCACGATCGGCCTCC	0.572000														14			4		0	0	1	0	0
CCNB3	85417	broad.mit.edu	37	X	50031781	50031781	+	Splice_Site	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:50031781C>T	uc004dox.4	+	4	395	c.97_splice	c.e4-1	p.T33_splice	CCNB3_uc004doy.3_Splice_Site_p.T33_splice|CCNB3_uc004doz.3_Splice_Site_p.T33_splice|CCNB3_uc010njq.3_Splice_Site	NM_033031	NP_149020	Q8WWL7	CCNB3_HUMAN	Homo sapiens cyclin B3 (CCNB3), transcript variant 3, mRNA.	33					cell division|meiosis|regulation of G2/M transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					CTTTTTTAGACGGGGGAGAAT	0.438000														16			11		0	0	1	0	0
DSC3	1825	broad.mit.edu	37	18	28576966	28576966	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:28576966C>A	uc002kwj.4	-	14	2439	c.2284G>T	c.(2284-2286)Ggt>Tgt	p.G762C	DSC3_uc002kwi.4_Missense_Mutation_p.G762C	NM_001941	NP_001932	Q14574	DSC3_HUMAN	Homo sapiens desmocollin 3 (DSC3), transcript variant Dsc3a, mRNA.	762					homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			CCACAAAAACCTTGGCTAGAG	0.413000														42			5		0.00116845	0.00123466	1	1	0
TOE1	114034	broad.mit.edu	37	1	45807687	45807687	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:45807687G>A	uc009vxq.3	+	4	983	c.400G>A	c.(400-402)Gaa>Aaa	p.E134K	MUTYH_uc001cnf.3_5'Flank|MUTYH_uc009vxo.3_5'Flank|MUTYH_uc001cng.3_5'Flank|MUTYH_uc001cnj.3_5'Flank|MUTYH_uc001cni.3_5'Flank|MUTYH_uc001cnh.3_5'Flank|MUTYH_uc001cnl.3_5'Flank|MUTYH_uc009vxp.3_5'Flank|MUTYH_uc001cnn.3_5'Flank|MUTYH_uc001cnm.3_5'Flank|MUTYH_uc001cno.3_5'Flank|MUTYH_uc010oll.2_5'Flank|TOE1_uc010olm.2_Missense_Mutation_p.E54K|TOE1_uc010oln.1_Missense_Mutation_p.E140K|TOE1_uc001cnr.4_Non-coding_Transcript	NM_025077	NP_079353	Q96GM8	TOE1_HUMAN	Homo sapiens target of EGR1, member 1 (nuclear) (TOE1), mRNA.	134						nuclear speck|nucleolus	nucleic acid binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	11	Acute lymphoblastic leukemia(166;0.155)					GTATGTCATAGAACCAAAGTC	0.468000														42			19		0	0	1	0	0
VPS13B	157680	broad.mit.edu	37	8	100493974	100493974	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:100493974G>A	uc003yiv.3	+	24	3925	c.3814G>A	c.(3814-3816)Gct>Act	p.A1272T	VPS13B_uc003yiw.3_Missense_Mutation_p.A1272T|VPS13B_uc003yiu.1_Missense_Mutation_p.A1272T|VPS13B_uc003yix.1_Missense_Mutation_p.A742T	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA.	1272					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TATAGGCACAGCTCCTCCAGA	0.453000														43			28		0	0	1	0	0
ZRANB2	9406	broad.mit.edu	37	1	71534977	71534977	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:71534977G>T	uc001dft.3	-	7	1046	c.752C>A	c.(751-753)tCt>tAt	p.S251Y	ZRANB2_uc001dfs.3_Missense_Mutation_p.S251Y|MIR186_uc010oqr.1_5'Flank	NM_203350	NP_976225	O95218	ZRAB2_HUMAN	Homo sapiens zinc finger, RAN-binding domain containing 2 (ZRANB2), transcript variant 1, mRNA.	251	Arg/Ser-rich.|Required for nuclear targeting.				RNA splicing|mRNA processing	nucleus	RNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S251C(3)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|stomach(1)	15						CGACCCACGAGATCTCGAACG	0.433000														35			4		0.000602214	0.000641151	1	1	0
SPZ1	84654	broad.mit.edu	37	5	79617181	79617181	+	RNA	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:79617181A>G	uc011ctk.1	-	0		c.478T>C			SPZ1_uc003kgn.3_Missense_Mutation_p.M383V			Q9BXG8	SPZ1_HUMAN	Homo sapiens cDNA FLJ25709 fis, clone TST04944.						regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2)	26		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)		CAAGCAAGCAATGAAGGGTAC	0.363000														53			32		0	0	1	0	0
SEMA3F	6405	broad.mit.edu	37	3	50220121	50220121	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:50220121C>T	uc003cyj.3	+	8	1006	c.808C>T	c.(808-810)Cgc>Tgc	p.R270C	SEMA3F_uc003cyk.3_Missense_Mutation_p.R239C	NM_004186	NP_004177	Q13275	SEM3F_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F (SEMA3F), mRNA.	270	Sema.			Missing (in Ref. 2; AAB18276).	axon guidance	extracellular space|membrane	chemorepellent activity|receptor activity	p.R270H(1)		central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	17				BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)		CAGTGCGGAGCGCAATGATGA	0.612000														38			28		0	0	1	0	0
CCDC160	347475	broad.mit.edu	37	X	133379664	133379664	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:133379664C>T	uc011mvj.2	+	1	1155	c.834C>T	c.(832-834)ctC>ctT	p.L278L		NM_001101357	NP_001094827	A6NGH7	CC160_HUMAN	Homo sapiens coiled-coil domain containing 160 (CCDC160), mRNA.	278										endometrium(1)|kidney(2)|large_intestine(10)|lung(2)|prostate(1)|skin(1)	17						GCGGAGAGCTCAGTGTCATCA	0.378000														21			5		0	0	1	0	0
PDE1C	5137	broad.mit.edu	37	7	31855724	31855724	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:31855724C>T	uc003tcm.2	-	14	2088	c.1627G>A	c.(1627-1629)Gca>Aca	p.A543T	PDE1C_uc003tcn.1_Missense_Mutation_p.A543T|PDE1C_uc003tco.2_Missense_Mutation_p.A603T|PDE1C_uc003tcr.3_Missense_Mutation_p.A543T|PDE1C_uc003tcs.3_Missense_Mutation_p.A543T	NM_001191057	NP_001177988	Q14123	PDE1C_HUMAN	Homo sapiens phosphodiesterase 1C, calmodulin-dependent 70kDa (PDE1C), transcript variant 2, mRNA.	543					activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.A543S(3)|p.A603S(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			TGCTCCTCTGCGGCCAGGCGA	0.502000														180			10		0	0	1	0	0
KRT39	390792	broad.mit.edu	37	17	39116560	39116560	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:39116560C>T	uc002hvo.1	-	5	1226	c.1190G>A	c.(1189-1191)cGc>cAc	p.R397H	KRT39_uc010wfm.1_Missense_Mutation_p.R130H	NM_213656	NP_998821	Q6A163	K1C39_HUMAN	Homo sapiens keratin 39 (KRT39), mRNA.	397	Coil 2.|Rod.					intermediate filament	structural molecule activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	17		Breast(137;0.00043)|Ovarian(249;0.15)				CAGAAGGCTGCGGTATGTGGT	0.478000														49			34		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	107183553	107183553	+	Splice_Site	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:107183553C>A	uc021ser.1	-	30		c.2023_splice	c.e30+1							Parts of antibodies, mostly variable regions.																		CTAATGAAACCTACCCACTCC	0.512000														35			16		6.31663e-08	7.34157e-08	1	1	0
ZPBP2	124626	broad.mit.edu	37	17	38024841	38024841	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:38024841T>C	uc002hte.3	+	1	245	c.92T>C	c.(91-93)tTc>tCc	p.F31S	ZPBP2_uc002htf.3_Intron	NM_199321	NP_955353	Q6X784	ZPBP2_HUMAN	Homo sapiens zona pellucida binding protein 2 (ZPBP2), transcript variant 2, mRNA.	31					binding of sperm to zona pellucida	extracellular region				kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15	Colorectal(19;0.000442)		Lung(15;0.00849)|LUSC - Lung squamous cell carcinoma(15;0.171)			AAGAAGGGCTTCATTTATGGC	0.522000														120			8		0	0	1	0	0
RPL32P3	132241	broad.mit.edu	37	3	129116253	129116253	+	RNA	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:129116253C>T	uc003eme.1	-	0		c.545G>A			RPL32P3_uc003ema.3_Intron|RPL32P3_uc003emb.3_Intron|RPL32P3_uc003emd.1_Intron|RPL32P3_uc003emf.2_5'Flank					Homo sapiens ribosomal protein L32 pseudogene 3 (RPL32P3), non-coding RNA.											lung(1)	1						TCAAAACTGACCCCAAGACAC	0.532000														58			33		0	0	1	0	0
SIM2	6493	broad.mit.edu	37	21	38095361	38095361	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:38095361G>T	uc002yvr.2	+	4	529	c.473G>T	c.(472-474)aGg>aTg	p.R158M	SIM2_uc002yvq.3_Missense_Mutation_p.R158M	NM_005069	NP_005060	Q14190	SIM2_HUMAN	Homo sapiens single-minded homolog 2 (Drosophila) (SIM2), transcript variant SIM2, mRNA.	158					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(2)	16						GAGATAGAGAGGTCGTTCTTT	0.557000														79			8		0.000442599	0.000473562	1	1	0
SNUPN	10073	broad.mit.edu	37	15	75899557	75899557	+	Splice_Site	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:75899557C>A	uc002ban.3	-	6	690	c.600_splice	c.e6+1	p.Q200_splice	SNUPN_uc002bap.3_Splice_Site_p.Q242_splice|SNUPN_uc002baq.3_Splice_Site_p.Q200_splice|SNUPN_uc002bar.3_Splice_Site_p.Q200_splice|SNUPN_uc002bas.3_Splice_Site_p.Q200_splice	NM_005701	NP_005692	O95149	SPN1_HUMAN	Homo sapiens snurportin 1 (SNUPN), transcript variant 1, mRNA.	200					ncRNA metabolic process|protein import into nucleus|spliceosomal snRNP assembly	cytosol|nuclear pore	RNA cap binding|protein transporter activity			endometrium(2)|large_intestine(3)|lung(2)|pancreas(1)	8						CCATCCCTACCTGGCAATCAT	0.502000														57			4		0.000602214	0.000641151	1	1	0
NET1	10276	broad.mit.edu	37	10	5493871	5493871	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:5493871G>A	uc001iia.3	+	3	472	c.334G>A	c.(334-336)Gct>Act	p.A112T	NET1_uc010qar.2_5'UTR|NET1_uc001iib.3_Missense_Mutation_p.A58T|NET1_uc010qas.2_5'UTR	NM_001047160	NP_001040625	Q7Z628	ARHG8_HUMAN	Homo sapiens neuroepithelial cell transforming 1 (NET1), transcript variant 1, mRNA.	112					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|regulation of cell growth|small GTPase mediated signal transduction	cytosol|nucleus	Rho guanyl-nucleotide exchange factor activity			breast(4)|kidney(2)|large_intestine(9)|lung(5)|prostate(2)|skin(1)	23						AAGAAATGGAGCTGTCAGACG	0.413000														91			62		0	0	1	0	0
GLT1D1	144423	broad.mit.edu	37	12	129467473	129467473	+	Splice_Site	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:129467473G>T	uc010tbh.1	+	13	904	c.895_splice	c.e13-1	p.E299_splice	GLT1D1_uc001uhx.1_Splice_Site_p.E214_splice|GLT1D1_uc001uhy.1_Splice_Site	NM_144669	NP_653270	Q96MS3	GL1D1_HUMAN	Homo sapiens glycosyltransferase 1 domain containing 1 (GLT1D1), mRNA.	294					biosynthetic process	extracellular region	transferase activity, transferring glycosyl groups			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019)		CTTTTTTGCAGGAGTTTGTTC	0.443000														60			28		7.38237e-10	8.84762e-10	1	1	0
PGBD1	84547	broad.mit.edu	37	6	28269621	28269621	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:28269621G>A	uc003nky.3	+	6	2410	c.1990G>A	c.(1990-1992)Gaa>Aaa	p.E664K	PGBD1_uc003nkz.3_Missense_Mutation_p.E664K	NM_032507	NP_115896	Q96JS3	PGBD1_HUMAN	Homo sapiens piggyBac transposable element derived 1 (PGBD1), transcript variant 2, mRNA.	664					viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						TATGAATGTAGAACATATGAA	0.383000														53			37		0	0	1	0	0
TEAD4	7004	broad.mit.edu	37	12	3128322	3128322	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:3128322C>T	uc010sej.2	+	7	861	c.569C>T	c.(568-570)cCg>cTg	p.P190L	TEAD4_uc010sek.2_Missense_Mutation_p.P147L|TEAD4_uc001qln.3_Missense_Mutation_p.P61L	NM_201443	NP_958851	Q15561	TEAD4_HUMAN	Homo sapiens TEA domain family member 4 (TEAD4), transcript variant 3, mRNA.	190					hippo signaling cascade|muscle organ development|skeletal system development		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10	Ovarian(42;0.211)		OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831)			GTCCAGCCTCCGCTGCCTCTG	0.682000														49			25		0	0	1	0	0
ARL15	54622	broad.mit.edu	37	5	53409155	53409155	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:53409155C>A	uc003jpg.1	-	3	433	c.339G>T	c.(337-339)gaG>gaT	p.E113D	ARL15_uc010ivs.1_Non-coding_Transcript	NM_019087	NP_061960	Q9NXU5	ARL15_HUMAN	Homo sapiens ADP-ribosylation factor-like 15 (ARL15), mRNA.	113							GTP binding			endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6		Lung NSC(810;0.000779)				CTAAATCATCCTCTGAAGAGG	0.423000														23			12		9.31168e-06	1.03939e-05	1	1	0
VCX3B	425054	broad.mit.edu	37	X	8433557	8433557	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:8433557C>A	uc011mht.2	+	1	373	c.66C>A	c.(64-66)tcC>tcA	p.S22S	VCX3B_uc004csd.1_Silent_p.S22S|VCX3B_uc022bsj.1_5'Flank	NM_001001888	NP_001001888	Q9H321	VCX3B_HUMAN	Homo sapiens variable charge, X-linked 3B (VCX3B), mRNA.	22						nucleolus				NS(1)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|urinary_tract(3)	11						AGAGGAAGTCCTCCTCTCAGC	0.607000														118			14		9.16793e-09	1.08001e-08	1	1	0
KIAA1377	57562	broad.mit.edu	37	11	101815130	101815130	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:101815130G>A	uc001pgm.3	+	2	653	c.383G>A	c.(382-384)cGg>cAg	p.R128Q	KIAA1377_uc001pgn.3_Missense_Mutation_p.R84Q|KIAA1377_uc009yxa.1_5'UTR	NM_020802	NP_065853	Q9P2H0	K1377_HUMAN	Homo sapiens KIAA1377 (KIAA1377), mRNA.	128							protein binding			breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		CTTTCACAGCGGAGGAAAGCA	0.338000														49			8		0	0	1	0	0
TMEM125	128218	broad.mit.edu	37	1	43738592	43738592	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:43738592C>T	uc021omm.1	+	0	199	c.199C>T	c.(199-201)Cgg>Tgg	p.R67W	EBNA1BP2_uc001cio.3_5'Flank|TMEM125_uc021oml.1_Missense_Mutation_p.R67W|TMEM125_uc001cir.3_Missense_Mutation_p.R67W	NM_144626	NP_653227	Q96AQ2	TM125_HUMAN	Homo sapiens transmembrane protein 125 (TMEM125), mRNA.	67						integral to membrane				breast(1)|large_intestine(1)|lung(1)	3	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				AGGTGAATGGCGGCTAGCAAC	0.652000														9			6		0	0	1	0	0
CDHR3	222256	broad.mit.edu	37	7	105662783	105662783	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:105662783C>T	uc003vdl.4	+	13	2073	c.1965C>T	c.(1963-1965)gaC>gaT	p.D655D	CDHR3_uc003vdk.3_Intron|CDHR3_uc003vdm.4_Silent_p.D642D|CDHR3_uc011klt.2_Silent_p.D567D|CDHR3_uc003vdn.3_Intron	NM_152750	NP_689963	Q6ZTQ4	CDHR3_HUMAN	Homo sapiens cadherin-related family member 3 (CDHR3), mRNA.	655	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.D654N(1)		breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						TAACTGATGACAACTTGATGT	0.463000														65			101		0	0	1	0	0
SAP130	79595	broad.mit.edu	37	2	128757937	128757937	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:128757937G>T	uc010fmd.2	-	7	1171	c.1039C>A	c.(1039-1041)Cta>Ata	p.L347I	SAP130_uc002tpn.2_Missense_Mutation_p.L108I|SAP130_uc002tpp.2_Missense_Mutation_p.L347I|SAP130_uc002tpq.1_Missense_Mutation_p.L320I	NM_001145928	NP_001139400	Q9H0E3	SP130_HUMAN	Homo sapiens Sin3A-associated protein, 130kDa (SAP130), transcript variant 1, mRNA.	347					histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		TGAGATGGTAGTGTGATTCTT	0.473000														71			6		0.0381472	0.0388409	1	1	0
LSM14A	26065	broad.mit.edu	37	19	34710693	34710693	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:34710693A>G	uc002nvb.4	+	7	1243	c.1047A>G	c.(1045-1047)ggA>ggG	p.G349G	LSM14A_uc002nva.4_Silent_p.G349G|LSM14A_uc010xru.2_Silent_p.G308G|LSM14A_uc002nvc.4_Silent_p.G155G	NM_001114093	NP_001107565	Q8ND56	LS14A_HUMAN	Homo sapiens LSM14A, SCD6 homolog A (S. cerevisiae) (LSM14A), transcript variant 1, mRNA.	349					cytoplasmic mRNA processing body assembly|multicellular organismal development|regulation of translation	cytoplasmic mRNA processing body|intracellular membrane-bounded organelle|stress granule				breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(7)|skin(1)	22	Esophageal squamous(110;0.162)					ACAGTGAAGGAAATGCCGATG	0.353000														33			8		0	0	1	0	0
PIWIL1	9271	broad.mit.edu	37	12	130846069	130846069	+	Silent	SNP	C	T	T	rs35377726	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:130846069C>T	uc001uik.3	+	15	2164	c.1893C>T	c.(1891-1893)atC>atT	p.I631I	PIWIL1_uc001uij.2_Silent_p.I631I	NM_004764	NP_004755	Q96J94	PIWL1_HUMAN	Homo sapiens piwi-like 1 (Drosophila) (PIWIL1), transcript variant 1, mRNA.	631	Piwi.|RNA-binding (By similarity).				gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	P granule|chromatoid body	mRNA binding|piRNA binding|protein binding			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		TCGTTGGCATCGATTGTTACC	0.433000														103			14		0	0	1	0	0
XDH	7498	broad.mit.edu	37	2	31565075	31565075	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:31565075T>G	uc002rnv.1	-	31	3572	c.3493A>C	c.(3493-3495)Atc>Ctc	p.I1165L		NM_000379	NP_000370	P47989	XDH_HUMAN	Homo sapiens xanthine dehydrogenase (XDH), mRNA.	1165					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	AGGCAGTCGATTTCTACTTCA	0.448000														73			9		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90074889	90074889	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:90074889A>C	uc003kju.3	+	63	13153	c.13057A>C	c.(13057-13059)Att>Ctt	p.I4353L	GPR98_uc003kjt.3_Missense_Mutation_p.I2059L|GPR98_uc003kjw.3_5'Flank	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	4353	Calx-beta 29.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TTCTCTAACAATTACAAAGGT	0.423000														18			15		0	0	1	0	0
USP49	25862	broad.mit.edu	37	6	41773747	41773747	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:41773747G>A	uc003ori.3	-	3	1197	c.975C>T	c.(973-975)tgC>tgT	p.C325C		NM_018561	NP_061031	Q70CQ1	UBP49_HUMAN	Homo sapiens ubiquitin specific peptidase 49 (USP49), mRNA.	325					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)|skin(2)	23	Ovarian(28;0.0919)|Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CCTCCCGCTCGCATGCCTCGG	0.582000														19			10		0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100684837	100684837	+	Silent	SNP	T	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100684837T>A	uc003uxp.1	+	2	10193	c.10140T>A	c.(10138-10140)tcT>tcA	p.S3380S	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	3380	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)					CCAGTTTATCTCCTACAACTG	0.522000														371			26		0	0	1	0	0
MASTL	84930	broad.mit.edu	37	10	27459940	27459940	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:27459940G>A	uc001itm.3	+	7	2655	c.2052G>A	c.(2050-2052)tcG>tcA	p.S684S	MASTL_uc001itl.3_Silent_p.S684S|MASTL_uc009xkw.2_Silent_p.S684S|MASTL_uc009xkx.2_Non-coding_Transcript	NM_001172303	NP_001165774	Q96GX5	GWL_HUMAN	Homo sapiens microtubule associated serine/threonine kinase-like (MASTL), transcript variant 1, mRNA.	684	Protein kinase.				G2/M transition of mitotic cell cycle|cell division|mitosis|negative regulation of protein phosphatase type 2A activity|regulation of cell cycle|response to DNA damage stimulus	centrosome|cleavage furrow|nucleus	ATP binding|protein phosphatase 2A binding|protein serine/threonine kinase activity			breast(3)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TGGATATTTCGTGTGCCTACA	0.358000														81			58		0	0	1	0	0
PHTF1	10745	broad.mit.edu	37	1	114246748	114246748	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:114246748C>A	uc009wgp.1	-	13	2297	c.1845G>T	c.(1843-1845)tcG>tcT	p.S615S	PHTF1_uc001edn.3_Silent_p.S615S|PHTF1_uc001edm.2_Silent_p.S372S	NM_006608	NP_006599	Q9UMS5	PHTF1_HUMAN	Homo sapiens putative homeodomain transcription factor 1 (PHTF1), mRNA.	615						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTAGGAAAACCGAGGATACAA	0.423000														12			13		9.05144e-12	1.10939e-11	1	1	0
RAPGEF2	9693	broad.mit.edu	37	4	160277280	160277280	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:160277280C>T	uc003iqg.4	+	22	4754	c.4444C>T	c.(4444-4446)Cag>Tag	p.Q1482*		NM_014247	NP_055062	Q9Y4G8	RPGF2_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 2 (RAPGEF2), mRNA.	1482					MAPKKK cascade|cAMP-mediated signaling|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|calcium ion binding|diacylglycerol binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		CGCCCCCTATCAGTCCCAAGG	0.522000														13			5		0	0	1	0	0
KIAA1549	57670	broad.mit.edu	37	7	138602434	138602434	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:138602434C>T	uc011kql.2	-	1	1987	c.1938G>A	c.(1936-1938)gcG>gcA	p.A646A	KIAA1549_uc011kqj.2_Silent_p.A646A	NM_001164665	NP_001158137	Q9HCM3	K1549_HUMAN	Homo sapiens KIAA1549 (KIAA1549), transcript variant 2, mRNA.	646	Ser-rich.					integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						GAGACAGAGACGCAGGTGCTT	0.498000			O	BRAF	pilocytic astrocytoma									4			11		0	0	1	0	0
TMPRSS15	5651	broad.mit.edu	37	21	19685272	19685272	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:19685272G>T	uc002ykw.3	-	17	2186	c.2155C>A	c.(2155-2157)Ctg>Atg	p.L719M		NM_002772	NP_002763	P98073	ENTK_HUMAN	Homo sapiens transmembrane protease, serine 15 (TMPRSS15), mRNA.	719	SRCR.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						CCTAGTCCCAGCAGTTGACAA	0.358000														37			35		1.04352e-10	1.26421e-10	1	1	0
GPR113	165082	broad.mit.edu	37	2	26536733	26536733	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:26536733G>T	uc002rhe.4	-	7	1171	c.1171C>A	c.(1171-1173)Ctg>Atg	p.L391M	GPR113_uc010yky.1_Missense_Mutation_p.L322M|GPR113_uc002rhb.1_5'UTR|GPR113_uc010eyk.1_Missense_Mutation_p.L192M|GPR113_uc002rhc.1_5'UTR|GPR113_uc002rhd.1_Non-coding_Transcript	NM_001145168	NP_001138640	Q8IZF5	GP113_HUMAN	Homo sapiens G protein-coupled receptor 113 (GPR113), transcript variant 1, mRNA.	391					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGAACAGCCAGCACAAAGCAC	0.592000														47			4		0.00024832	0.000267289	1	1	0
TNRC18	84629	broad.mit.edu	37	7	5348995	5348995	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:5348995C>T	uc003soi.4	-	27	8742	c.8393G>A	c.(8392-8394)cGt>cAt	p.R2798H		NM_001080495	NP_001073964	O15417	TNC18_HUMAN	Homo sapiens trinucleotide repeat containing 18 (TNRC18), mRNA.	2798							DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		CTTCATGCCACGCCGCTGCAA	0.682000														11			5		0	0	1	0	0
DOCK7	85440	broad.mit.edu	37	1	63128776	63128776	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:63128776G>A	uc001daq.3	-	1	98	c.64C>T	c.(64-66)Cag>Tag	p.Q22*	DOCK7_uc001dap.3_Nonsense_Mutation_p.Q22*|DOCK7_uc009wah.1_Nonsense_Mutation_p.Q22*	NM_033407	NP_212132	Q96N67	DOCK7_HUMAN	Homo sapiens dedicator of cytokinesis 7 (DOCK7), mRNA.	22					activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|Rac GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						CCGGAGATCTGCTTCCTAACT	0.368000														137			13		0	0	1	0	0
POLI	11201	broad.mit.edu	37	18	51809233	51809233	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:51809233C>T	uc002lfj.4	+	5	891	c.823C>T	c.(823-825)Ctt>Ttt	p.L275F	POLI_uc010xds.2_Missense_Mutation_p.L196F|POLI_uc002lfk.4_Missense_Mutation_p.L172F|POLI_uc002lfl.1_Missense_Mutation_p.L207F|POLI_uc010dpg.3_5'UTR	NM_007195	NP_009126	Q9UNA4	POLI_HUMAN	Homo sapiens polymerase (DNA directed) iota (POLI), mRNA.	275					DNA repair|DNA replication	nucleoplasm	DNA-directed DNA polymerase activity|damaged DNA binding|metal ion binding|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(5)|ovary(3)|urinary_tract(1)	26				Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197)		TGCCAAATGTCTTGAAGCACT	0.303000								DNA polymerases (catalytic subunits)						3			3		0	0	1	0	0
ZBTB49	166793	broad.mit.edu	37	4	4317620	4317620	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:4317620C>A	uc003ghu.3	+	6	1719	c.1544C>A	c.(1543-1545)tCt>tAt	p.S515Y	ZBTB49_uc003ghv.3_5'UTR|ZBTB49_uc010icy.3_Non-coding_Transcript|ZBTB49_uc010icz.3_Intron	NM_145291	NP_660334	Q6ZSB9	ZBT49_HUMAN	Homo sapiens zinc finger and BTB domain containing 49 (ZBTB49), mRNA.	515					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	28						TGTGGAAAGTCTTTTAATATG	0.463000														57			33		1.06801e-11	1.3078e-11	1	1	0
TTC38	55020	broad.mit.edu	37	22	46684453	46684453	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:46684453G>A	uc003bhi.3	+	10	1126	c.1050G>A	c.(1048-1050)caG>caA	p.Q350Q	TTC38_uc011aqx.2_Silent_p.Q292Q	NM_017931	NP_060401	Q5R3I4	TTC38_HUMAN	Homo sapiens tetratricopeptide repeat domain 38 (TTC38), mRNA.	350							binding			endometrium(4)|large_intestine(3)|lung(4)|ovary(1)	12						AGACCACACAGGAGCTGCTGA	0.662000														43			26		0	0	1	0	0
SIPA1L2	57568	broad.mit.edu	37	1	232650749	232650749	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:232650749C>T	uc001hvg.3	-	0	495	c.337G>A	c.(337-339)Gtc>Atc	p.V113I		NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 2 (SIPA1L2), mRNA.	113					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				TTCTGCAGGACAGAAGTGATG	0.502000														101			39		0	0	1	0	0
SGK223	157285	broad.mit.edu	37	8	8185546	8185546	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:8185546C>T	uc003wsh.4	-	3	2746	c.2746G>A	c.(2746-2748)Gcc>Acc	p.A916T		NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN	Homo sapiens homolog of rat pragma of Rnd2 (SGK223), mRNA.	916							ATP binding|non-membrane spanning protein tyrosine kinase activity										GAGGATGAGGCGGAGGGGGCC	0.667000														33			18		0	0	1	0	0
GIMAP8	155038	broad.mit.edu	37	7	150174764	150174764	+	Missense_Mutation	SNP	G	A	A	rs144516226	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:150174764G>A	uc003whj.3	+	4	2224	c.1894G>A	c.(1894-1896)Ggg>Agg	p.G632R		NM_175571	NP_783161	Q8ND71	GIMA8_HUMAN	Homo sapiens GTPase, IMAP family member 8 (GIMAP8), mRNA.	632						Golgi apparatus|endoplasmic reticulum|mitochondrion	GTP binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		TGGGTGGTCCGGGTATCCCCA	0.403000														108			34		0	0	1	0	0
C12orf51	283450	broad.mit.edu	37	12	112673464	112673464	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:112673464G>A	uc021reb.1	-	35	5563	c.5167C>T	c.(5167-5169)Ctg>Ttg	p.L1723L		NM_001109662	NP_001103132			Homo sapiens chromosome 12 open reading frame 51 (C12orf51), mRNA.											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(6)|large_intestine(16)|lung(49)|ovary(4)|prostate(1)|urinary_tract(6)	100						ATCAGGGGCAGCGCCGCCCGG	0.592000														30			11		0	0	1	0	0
SBF2	81846	broad.mit.edu	37	11	10024128	10024128	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:10024128G>T	uc001mib.2	-	6	866	c.728C>A	c.(727-729)tCt>tAt	p.S243Y	SBF2_uc001mif.3_5'UTR	NM_030962	NP_112224	Q86WG5	MTMRD_HUMAN	Homo sapiens SET binding factor 2 (SBF2), mRNA.	243	DENN.				myelination	cytoplasm|membrane	phosphatase activity|protein binding			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		AAACATTAAAGATTCCAGGGC	0.348000														31			19		1.64113e-05	1.8176e-05	1	1	0
FER1L6	654463	broad.mit.edu	37	8	125131098	125131098	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:125131098C>T	uc003yqw.3	+	39	5509	c.5303C>T	c.(5302-5304)gCt>gTt	p.A1768V	AK057332_uc003yqy.1_Intron	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.	1768						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			AAGGTTGAAGCTGAGTTCCAC	0.488000														19			4		0	0	1	0	0
ARHGEF10L	55160	broad.mit.edu	37	1	17983182	17983182	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:17983182G>A	uc001ban.3	+	24	2998	c.2839G>A	c.(2839-2841)Gct>Act	p.A947T	ARHGEF10L_uc009vpe.1_Missense_Mutation_p.A908T|ARHGEF10L_uc001bao.3_Missense_Mutation_p.A908T|ARHGEF10L_uc001bap.3_Missense_Mutation_p.A903T|ARHGEF10L_uc001baq.3_Missense_Mutation_p.A708T|ARHGEF10L_uc010ocs.2_Missense_Mutation_p.A720T|ARHGEF10L_uc001bar.3_Missense_Mutation_p.A650T|ARHGEF10L_uc009vpf.3_Non-coding_Transcript	NM_018125	NP_060595	Q9HCE6	ARGAL_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 10-like (ARHGEF10L), transcript variant 1, mRNA.	947					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		TGGGACCCTTGCTGCTTACCC	0.647000														44			4		0	0	1	0	0
WWP1	11059	broad.mit.edu	37	8	87447713	87447713	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:87447713G>A	uc003ydt.3	+	14	1914	c.1634G>A	c.(1633-1635)cGc>cAc	p.R545H	WWP1_uc010mai.3_Missense_Mutation_p.R321H	NM_007013	NP_008944	Q9H0M0	WWP1_HUMAN	Homo sapiens WW domain containing E3 ubiquitin protein ligase 1 (WWP1), mRNA.	545					central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction	cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						GCTTATGAACGCGGCTTTAGG	0.299000														34			23		0	0	1	0	0
RAD23A	5886	broad.mit.edu	37	19	13063631	13063631	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:13063631C>A	uc002mvw.1	+	7	1051	c.942C>A	c.(940-942)atC>atA	p.I314I	RAD23A_uc002mvz.1_Silent_p.I313I|RAD23A_uc010xmw.1_Silent_p.I149I	NM_005053	NP_005044	P54725	RD23A_HUMAN	Homo sapiens RAD23 homolog A (S. cerevisiae) (RAD23A), mRNA.	314					interspecies interaction between organisms|nucleotide-excision repair|positive regulation of viral genome replication|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	damaged DNA binding|polyubiquitin binding|single-stranded DNA binding			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)	12						TGAACTACATCCAGGTGACGC	0.622000								Nucleotide excision repair (NER)						29			16		2.32078e-09	2.76369e-09	1	1	0
BPIFB4	149954	broad.mit.edu	37	20	31695611	31695611	+	Silent	SNP	C	T	T	rs150261493		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:31695611C>T	uc010zue.2	+	14	1821	c.1806C>T	c.(1804-1806)gaC>gaT	p.D602D		NM_182519	NP_872325	P59827	LPLC4_HUMAN	Homo sapiens BPI fold containing family B, member 4 (BPIFB4), mRNA.	602						cytoplasm|extracellular region	lipid binding										GCAATGCAGACATTGACGTGT	0.493000														24			18		0	0	1	0	0
NOSIP	51070	broad.mit.edu	37	19	50062189	50062189	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:50062189G>A	uc002pok.3	-	4	375	c.223C>T	c.(223-225)Ctg>Ttg	p.L75L	NOSIP_uc002pol.3_Silent_p.L75L|NOSIP_uc010yay.1_Non-coding_Transcript	NM_015953	NP_057037	Q9Y314	NOSIP_HUMAN	Homo sapiens nitric oxide synthase interacting protein (NOSIP), mRNA.	75	U-box-like.				negative regulation of nitric-oxide synthase activity|nitric oxide metabolic process	cytosol|nucleus	protein binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|skin(2)|urinary_tract(1)	11		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00321)|GBM - Glioblastoma multiforme(134;0.0133)		TTCTGGTGCAGAATGTACTCC	0.572000														366			31		0	0	1	0	0
EIF1AD	84285	broad.mit.edu	37	11	65766122	65766122	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:65766122C>T	uc021qlr.1	-	5	819	c.446G>A	c.(445-447)cGc>cAc	p.R149H	EIF1AD_uc001ogm.2_Missense_Mutation_p.R149H|EIF1AD_uc021qls.1_Missense_Mutation_p.R149H|EIF1AD_uc021qlt.1_Missense_Mutation_p.R149H|EIF1AD_uc021qlu.1_Missense_Mutation_p.R149H|EIF1AD_uc021qlv.1_Missense_Mutation_p.R149H|EIF1AD_uc001ogn.2_Missense_Mutation_p.R149H	NM_001242481	NP_001229410	Q8N9N8	EIF1A_HUMAN	Homo sapiens eukaryotic translation initiation factor 1A domain containing (EIF1AD), transcript variant 1, mRNA.	149						nucleus	translation initiation factor activity			lung(5)	5						ATACTGTCTGCGGTTTGTGTT	0.532000														200			10		0	0	1	0	0
L3MBTL2	83746	broad.mit.edu	37	22	41620783	41620783	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:41620783C>T	uc003azo.3	+	9	1283	c.1229C>T	c.(1228-1230)gCc>gTc	p.A410V	L3MBTL2_uc010gyi.1_Missense_Mutation_p.A319V|L3MBTL2_uc003azn.3_Non-coding_Transcript	NM_031488	NP_113676	Q969R5	LMBL2_HUMAN	Homo sapiens l(3)mbt-like 2 (Drosophila) (L3MBTL2), mRNA.	410					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	methylated histone residue binding|transcription corepressor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TACTGTGATGCCGTTCCTTAC	0.572000														26			9		0	0	1	0	0
ACHE	43	broad.mit.edu	37	7	100491612	100491612	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100491612G>A	uc003uxd.3	-	0	398	c.242C>T	c.(241-243)cCg>cTg	p.P81L	ACHE_uc003uxe.3_Missense_Mutation_p.P81L|ACHE_uc003uxf.3_Missense_Mutation_p.P81L|ACHE_uc003uxg.3_Missense_Mutation_p.P81L|ACHE_uc003uxh.3_Missense_Mutation_p.P81L|ACHE_uc003uxi.3_Missense_Mutation_p.P81L|ACHE_uc003uxj.1_Missense_Mutation_p.P200L	NM_000665	NP_000656	P22303	ACES_HUMAN	Homo sapiens acetylcholinesterase (ACHE), transcript variant E4-E6, mRNA.	81					DNA replication|acetylcholine catabolic process in synaptic cleft|amyloid precursor protein metabolic process|cell adhesion|cell proliferation|choline metabolic process|muscle organ development|neurotransmitter biosynthetic process|osteoblast development|positive regulation of protein secretion|regulation of axonogenesis|regulation of dendrite morphogenesis|response to wounding|synapse assembly	Golgi apparatus|anchored to membrane|axon|basal lamina|cell junction|cell surface|dendrite|endoplasmic reticulum lumen|extracellular space|neuromuscular junction|nucleus|perinuclear region of cytoplasm|postsynaptic membrane|presynaptic membrane|synaptic cleft	acetylcholine binding|acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|collagen binding|laminin-1 binding|protein homodimerization activity|serine hydrolase activity	p.P80S(1)		large_intestine(3)|lung(7)|skin(3)|urinary_tract(3)	16	Lung NSC(181;0.041)|all_lung(186;0.0581)				Ambenonium(DB01122)|Atropine(DB00572)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium bromide(DB00944)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tacrine(DB00382)|Tubocurarine(DB01199)	CTTGGGCTCCGGTGGCAGAAA	0.622000														45			25		0	0	1	0	0
EPB49	2039	broad.mit.edu	37	8	21938907	21938907	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:21938907C>A	uc022asw.1	+	14	1189	c.1151C>A	c.(1150-1152)cCt>cAt	p.P384H	EPB49_uc022asq.1_3'UTR|EPB49_uc022asr.1_3'UTR|EPB49_uc022ass.1_3'UTR|EPB49_uc022ast.1_3'UTR|EPB49_uc022asu.1_3'UTR|EPB49_uc022asv.1_3'UTR|EPB49_uc022asx.1_Missense_Mutation_p.P362H|EPB49_uc022asy.1_Missense_Mutation_p.P337H	NM_001978	NP_001969	Q08495	DEMA_HUMAN	Homo sapiens erythrocyte membrane protein band 4.9 (dematin) (EPB49), transcript variant 1, mRNA.	384	HP.				actin filament bundle assembly|actin filament capping	actin cytoskeleton|nucleus	actin binding			central_nervous_system(1)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	10				Colorectal(74;9.05e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0631)		GCCATGTCCCCTGAAGAGTTT	0.607000														57			6		0.00116845	0.00123466	1	1	0
KIAA0319L	79932	broad.mit.edu	37	1	35921616	35921616	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:35921616G>A	uc001byx.3	-	9	1912	c.1654C>T	c.(1654-1656)Cag>Tag	p.Q552*	KIAA0319L_uc001byw.3_5'Flank|KIAA0319L_uc010ohv.1_Nonsense_Mutation_p.Q194*	NM_024874	NP_079150	Q8IZA0	K319L_HUMAN	Homo sapiens KIAA0319-like (KIAA0319L), mRNA.	552	PKD 3.					cytoplasmic vesicle part|integral to membrane	protein binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CCTCCTACCTGCATCTCCACC	0.483000														285			12		0	0	1	0	0
SH2D3A	10045	broad.mit.edu	37	19	6754118	6754118	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:6754118C>T	uc002mft.3	-	7	1523	c.1329G>A	c.(1327-1329)gcG>gcA	p.A443A	SH2D3A_uc010xjg.2_Silent_p.A350A	NM_005490	NP_005481	Q9BRG2	SH23A_HUMAN	Homo sapiens SH2 domain containing 3A (SH2D3A), mRNA.	443					JNK cascade|small GTPase mediated signal transduction	intracellular	SH3/SH2 adaptor activity|guanyl-nucleotide exchange factor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1)	24						CAAAGGCCAGCGCAGCCTCCG	0.647000														11			5		0	0	1	0	0
SNN	8303	broad.mit.edu	37	16	11770176	11770176	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:11770176C>T	uc021tda.1	+	0	261	c.261C>T	c.(259-261)caC>caT	p.H87H	SNN_uc002dbf.3_Silent_p.H87H	NM_003498	NP_003489	O75324	SNN_HUMAN	Homo sapiens stannin (SNN), mRNA.	87					response to abiotic stimulus|response to stress	integral to membrane|mitochondrial outer membrane				endometrium(1)	1						CGGAAGTCCACGGCTGAGCCA	0.622000														18			13		0	0	1	0	0
AARSD1	80755	broad.mit.edu	37	17	41131673	41131673	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:41131673C>T	uc010whg.2	-	1	491	c.145G>A	c.(145-147)Gcc>Acc	p.A49T	AARSD1_uc002icd.3_5'UTR|AARSD1_uc002ich.3_Intron|AARSD1_uc010whh.2_Missense_Mutation_p.A49T|RUNDC1_uc021txw.1_5'Flank|RUNDC1_uc002ici.1_5'Flank	NM_001136042	NP_079543	Q9BTE6	AASD1_HUMAN	Homo sapiens alanyl-tRNA synthetase domain containing 1 (AARSD1), transcript variant 1, mRNA.	0					alanyl-tRNA aminoacylation	cytoplasm	ATP binding|alanine-tRNA ligase activity|metal ion binding|nucleic acid binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|skin(1)	17		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.161)		AAGGTCCGGGCGTGCTGCCTG	0.542000														16			5		0	0	1	0	0
PRSS12	8492	broad.mit.edu	37	4	119203986	119203986	+	Splice_Site	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:119203986C>A	uc003ica.2	-	12	2367	c.2320_splice	c.e12+1	p.G774_splice		NM_003619	NP_003610	P56730	NETR_HUMAN	Homo sapiens protease, serine, 12 (neurotrypsin, motopsin) (PRSS12), mRNA.	774	Peptidase S1.					membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						TATGCCTTACCTGTGTCACCC	0.433000														428			54		4.17463e-26	5.47289e-26	1	1	0
TTYH2	94015	broad.mit.edu	37	17	72249269	72249269	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:72249269G>A	uc002jkc.3	+	11	1340	c.1309G>A	c.(1309-1311)Gcc>Acc	p.A437T	TTYH2_uc010wqw.2_Missense_Mutation_p.A416T|TTYH2_uc002jkd.3_Missense_Mutation_p.A116T	NM_032646	NP_116035	Q9BSA4	TTYH2_HUMAN	Homo sapiens tweety homolog 2 (Drosophila) (TTYH2), transcript variant 1, mRNA.	437						chloride channel complex|plasma membrane	chloride channel activity|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(14)|ovary(3)|pancreas(1)|stomach(3)|upper_aerodigestive_tract(1)	36						TAACCCCCAAGCCTGGCGCAT	0.592000														78			41		0	0	1	0	0
ZNF318	24149	broad.mit.edu	37	6	43325297	43325297	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:43325297C>T	uc003oux.3	-	2	833	c.755G>A	c.(754-756)cGg>cAg	p.R252Q	ZNF318_uc003ouw.3_Non-coding_Transcript	NM_014345	NP_055160	Q5VUA4	ZN318_HUMAN	Homo sapiens zinc finger protein 318 (ZNF318), mRNA.	252					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			TTCTCGATTCCGTTCTGTTCC	0.453000														57			37		0	0	1	0	0
SORBS2	8470	broad.mit.edu	37	4	186536048	186536048	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:186536048G>A	uc003iyg.3	-	16	3194	c.3162C>T	c.(3160-3162)atC>atT	p.I1054I	SORBS2_uc003iyh.3_Silent_p.I664I|SORBS2_uc011ckw.2_Silent_p.I501I|SORBS2_uc003iyi.3_Silent_p.I571I|SORBS2_uc011ckx.2_Silent_p.I506I|SORBS2_uc003iyk.3_Silent_p.I484I|SORBS2_uc003iym.3_Silent_p.I1040I|SORBS2_uc003iyl.3_Silent_p.I940I|SORBS2_uc003iyn.1_Silent_p.I531I|SORBS2_uc011cku.2_Silent_p.I332I|SORBS2_uc011ckv.2_Silent_p.I844I|SORBS2_uc003iyd.3_Silent_p.I639I|SORBS2_uc003iye.3_Silent_p.I513I|SORBS2_uc003iya.3_Silent_p.I460I|SORBS2_uc003iyb.3_Silent_p.I413I|SORBS2_uc003iyc.3_Silent_p.I393I|SORBS2_uc003iyf.3_Silent_p.I476I|SORBS2_uc003iyo.1_Silent_p.I389I	NM_021069	NP_066547	O94875	SRBS2_HUMAN	Homo sapiens sorbin and SH3 domain containing 2 (SORBS2), transcript variant 2, mRNA.	940	SH3 3.					Z disc|actin cytoskeleton|nucleus|perinuclear region of cytoplasm	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		TAGCTTCTCCGATTTCTCCGG	0.453000														63			36		0	0	1	0	0
FAM35A	54537	broad.mit.edu	37	10	88912259	88912259	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:88912259A>C	uc001kei.4	+	2	1262	c.1148A>C	c.(1147-1149)gAa>gCa	p.E383A		NM_019054	NP_061927	Q86V20	FA35A_HUMAN	Homo sapiens family with sequence similarity 35, member A (FAM35A), mRNA.	383										endometrium(2)|kidney(2)|large_intestine(5)|lung(1)|ovary(2)|prostate(2)|skin(2)	16						TGTACCTCTGAAGATAAAGTG	0.393000														45			26		0	0	1	0	0
RUFY3	22902	broad.mit.edu	37	4	71650590	71650590	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:71650590A>G	uc003hfr.3	+	9	1660	c.1065A>G	c.(1063-1065)ttA>ttG	p.L355L	RUFY3_uc003hfp.4_Silent_p.L415L|RUFY3_uc003hfq.3_Silent_p.L355L|RUFY3_uc011cax.2_Silent_p.L373L|RUFY3_uc011cay.2_Silent_p.L291L	NM_001037442	NP_001032519	Q7L099	RUFY3_HUMAN	Homo sapiens RUN and FYVE domain containing 3 (RUFY3), transcript variant 1, mRNA.	355					negative regulation of axonogenesis	filopodium|growth cone				endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	16		all_hematologic(202;0.248)	Lung(101;0.235)			AGACACAATTACGATTGGTAA	0.348000														14			3		0	0	1	0	0
TMPRSS6	164656	broad.mit.edu	37	22	37499319	37499319	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:37499319G>A	uc003aqt.1	-	1	201	c.139C>T	c.(139-141)Ctg>Ttg	p.L47L	TMPRSS6_uc003aqs.1_Silent_p.L56L|TMPRSS6_uc003aqu.3_Silent_p.L47L	NM_153609	NP_705837	Q8IU80	TMPS6_HUMAN	Homo sapiens transmembrane protease, serine 6 (TMPRSS6), mRNA.	56					angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						AGCACAAACAGGGGCACCAGG	0.652000														39			19		0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	31040234	31040234	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:31040234G>T	uc002nsu.1	+	3	3846	c.3708G>T	c.(3706-3708)caG>caT	p.Q1236H	ZNF536_uc010edd.1_Missense_Mutation_p.Q1236H	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	1236					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.Q1236H(2)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GGCACAGCCAGGGTCTTCTCC	0.672000														24			6		1.26484e-09	1.50989e-09	1	1	0
ABTB2	25841	broad.mit.edu	37	11	34175835	34175835	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:34175835C>T	uc001mvl.2	-	15	3282	c.2857G>A	c.(2857-2859)Gtg>Atg	p.V953M		NM_145804	NP_665803	A8K6S9	A8K6S9_HUMAN	Homo sapiens ankyrin repeat and BTB (POZ) domain containing 2 (ABTB2), mRNA.	767							DNA binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)				TAGGTGTTCACGGCACTCTCC	0.632000														13			10		0	0	1	0	0
SLC5A9	200010	broad.mit.edu	37	1	48697656	48697656	+	Missense_Mutation	SNP	C	T	T	rs149962239	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:48697656C>T	uc001crn.2	+	7	857	c.805C>T	c.(805-807)Cgg>Tgg	p.R269W	SLC5A9_uc010oms.1_Intron|SLC5A9_uc001cro.2_Missense_Mutation_p.R244W|SLC5A9_uc010omt.1_Missense_Mutation_p.R258W|SLC5A9_uc001crp.2_5'UTR|SLC5A9_uc010omu.1_Intron	NM_001135181	NP_001128653	Q2M3M2	SC5A9_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 9 (SLC5A9), transcript variant 1, mRNA.	244			I -> M (in dbSNP:rs212991).			integral to membrane|plasma membrane	low-affinity glucose:sodium symporter activity			breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						CCTGGAGCAGCGGTACAGGCA	0.612000														58			25		0	0	1	0	0
HERC1	8925	broad.mit.edu	37	15	63946458	63946458	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:63946458G>A	uc002amp.3	-	50	10298	c.10150C>T	c.(10150-10152)Cgg>Tgg	p.R3384W		NM_003922	NP_003913	Q15751	HERC1_HUMAN	Homo sapiens hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1 (HERC1), mRNA.	3384					protein modification process|transport	Golgi apparatus|cytosol|membrane	ARF guanyl-nucleotide exchange factor activity|acid-amino acid ligase activity	p.R3384Q(1)		NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						GCCCATTGCCGATGCTGTGAG	0.562000														20			17		0	0	1	0	0
VPS41	27072	broad.mit.edu	37	7	38857475	38857475	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:38857475G>T	uc003tgy.3	-	6	418	c.392C>A	c.(391-393)gCt>gAt	p.A131D	VPS41_uc003tgz.3_Missense_Mutation_p.A106D|VPS41_uc010kxn.3_Missense_Mutation_p.A131D	NM_014396	NP_055211	P49754	VPS41_HUMAN	Homo sapiens vacuolar protein sorting 41 homolog (S. cerevisiae) (VPS41), transcript variant 1, mRNA.	131					Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	Golgi-associated vesicle|HOPS complex|cytosol|membrane fraction	zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						TGGGTGCACAGCAATAATCTA	0.463000														54			27		2.49675e-24	3.25954e-24	1	1	0
C20orf26	26074	broad.mit.edu	37	20	20180469	20180469	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:20180469C>T	uc002wru.3	+	16	1969	c.1855C>T	c.(1855-1857)Cga>Tga	p.R619*	C20orf26_uc010zse.2_Nonsense_Mutation_p.R599*	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN	Homo sapiens chromosome 20 open reading frame 26 (C20orf26), transcript variant 1, mRNA.	619								p.R619R(2)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		GGTTCCCGTGCGACCACGACG	0.532000														118			8		0	0	1	0	0
UGT2B4	7363	broad.mit.edu	37	4	70361049	70361049	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:70361049G>A	uc003hek.4	-	0	578	c.531C>T	c.(529-531)ggC>ggT	p.G177G	UGT2B4_uc011cap.2_Silent_p.G41G|UGT2B4_uc003hel.4_Silent_p.G177G	NM_021139	NP_066962	P06133	UD2B4_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B4 (UGT2B4), mRNA.	177					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						CAATTGCGTAGCCAGGAGAGA	0.458000														27			16		0	0	1	0	0
BCL11B	64919	broad.mit.edu	37	14	99642372	99642372	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:99642372C>T	uc001yga.3	-	3	1068	c.801G>A	c.(799-801)ccG>ccA	p.P267P	BCL11B_uc001ygb.3_Silent_p.P196P	NM_138576	NP_612808	Q9C0K0	BC11B_HUMAN	Homo sapiens B-cell CLL/lymphoma 11B (zinc finger protein) (BCL11B), transcript variant 1, mRNA.	267						nucleus	zinc ion binding			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		GCCCGAGCGGCGGCGGGATGG	0.711000			T	TLX3	T-ALL									7			3		0	0	1	0	0
MIR519D	574480	broad.mit.edu	37	19	54216613	54216613	+	RNA	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:54216613A>G	uc021vaf.1	+	0		c.13A>G								Homo sapiens microRNA 519d (MIR519D), microRNA.																		CCATGCTGTGACCCTCCAAAG	0.433000														55			32		0	0	1	0	0
JMJD1C	221037	broad.mit.edu	37	10	64973474	64973474	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:64973474G>T	uc001jmn.3	-	7	2753	c.2453C>A	c.(2452-2454)gCt>gAt	p.A818D	JMJD1C_uc001jml.3_Missense_Mutation_p.A599D|JMJD1C_uc001jmm.3_Missense_Mutation_p.A530D|JMJD1C_uc010qiq.2_Missense_Mutation_p.A636D|JMJD1C_uc009xpi.3_Missense_Mutation_p.A636D|JMJD1C_uc009xpj.2_Non-coding_Transcript|JMJD1C_uc001jmp.1_Missense_Mutation_p.A530D	NM_032776	NP_116165	Q15652	JHD2C_HUMAN	Homo sapiens jumonji domain containing 1C (JMJD1C), transcript variant 1, mRNA.	818					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			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)					GCTGGCATGAGCACTCTCTAG	0.527000														14			18		3.41278e-10	4.10877e-10	1	1	0
C6orf70	55780	broad.mit.edu	37	6	170159127	170159127	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:170159127C>T	uc003qxg.1	+	5	604	c.571C>T	c.(571-573)Cat>Tat	p.H191Y	C6orf70_uc011ehb.1_Missense_Mutation_p.H65Y|C6orf70_uc003qxh.1_Missense_Mutation_p.H191Y|C6orf70_uc010kky.1_Missense_Mutation_p.H65Y	NM_018341	NP_060811	Q5T6L9	CF070_HUMAN	Homo sapiens chromosome 6 open reading frame 70 (C6orf70), mRNA.	191						integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(1)	20		Breast(66;5.08e-05)|Ovarian(120;0.208)		OV - Ovarian serous cystadenocarcinoma(33;1.2e-22)|BRCA - Breast invasive adenocarcinoma(81;1.49e-07)|GBM - Glioblastoma multiforme(31;0.00191)		CGTCTTATGGCATGGGTTTGC	0.373000														60			41		0	0	1	0	0
AX746964	0	broad.mit.edu	37	5	140242835	140242835	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140242835C>T	uc003lhy.1	-	0	390	c.141G>A	c.(139-141)tcG>tcA	p.S47S	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron					SubName: Full=Uncharacterized protein; SubName: Full=cDNA FLJ34090 fis, clone FCBBF3006399;																		TGGCGGGCGTCGAGGTCCGGG	0.647000														14			8		0	0	1	0	0
KRTAP4-3	85290	broad.mit.edu	37	17	39323973	39323973	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:39323973C>T	uc010cxl.3	-	0	452	c.452G>A	c.(451-453)cGc>cAc	p.R151H		NM_033187	NP_149443	Q9BYR4	KRA43_HUMAN	Homo sapiens keratin associated protein 4-3 (KRTAP4-3), mRNA.	151	29 X 5 AA repeats of C-C-[GIKRQVH]-[SPT]- [STA].					keratin filament		p.R151H(2)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	12		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			GCAAGCCGGGCGGCAGCAGGA	0.632000														7			11		0	0	1	0	0
MRGPRX4	117196	broad.mit.edu	37	11	18195332	18195332	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:18195332G>T	uc001mnv.1	+	0	949	c.529G>T	c.(529-531)Gat>Tat	p.D177Y		NM_054032	NP_473373	Q96LA9	MRGX4_HUMAN	Homo sapiens MAS-related GPR, member X4 (MRGPRX4), mRNA.	177						integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						TGAAACGTCAGATTTCATCCC	0.517000														178			12		1.5842e-08	1.86177e-08	1	1	0
ZACN	353174	broad.mit.edu	37	17	74077726	74077726	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:74077726G>A	uc002jqn.2	+	6	853	c.770G>A	c.(769-771)cGg>cAg	p.R257Q	ZACN_uc002jqo.2_Non-coding_Transcript|ZACN_uc010dgu.2_Non-coding_Transcript|EXOC7_uc002jqp.2_3'UTR|EXOC7_uc010dgv.2_3'UTR|EXOC7_uc010wsv.2_3'UTR|EXOC7_uc002jqs.3_3'UTR|EXOC7_uc010wsw.2_3'UTR|EXOC7_uc002jqq.3_3'UTR|EXOC7_uc010wsx.2_3'UTR|EXOC7_uc002jqr.3_3'UTR	NM_180990	NP_851321	Q401N2	ZACN_HUMAN	Homo sapiens zinc activated ligand-gated ion channel (ZACN), mRNA.	257	Leu-rich.				response to zinc ion	integral to membrane|membrane fraction|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	11						CTGCCCCTCCGGGCCATTGAG	0.622000														59			43		0	0	1	0	0
PCBP2	5094	broad.mit.edu	37	12	53865487	53865487	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:53865487G>A	uc001sdl.4	+	13	1307	c.957G>A	c.(955-957)gcG>gcA	p.A319A	PCBP2_uc001sde.4_Silent_p.A315A|PCBP2_uc001sdi.4_Silent_p.A289A|PCBP2_uc001sdd.4_Silent_p.A285A|PCBP2_uc001sdf.4_Silent_p.A272A|PCBP2_uc001sdc.4_Silent_p.A320A|PCBP2_uc001sdb.4_Silent_p.A316A|PCBP2_uc010soi.2_Silent_p.A57A|PCBP2_uc010soj.2_Silent_p.A69A|PCBP2_uc001sdk.4_Silent_p.A92A	NM_001128911	NP_001122383	Q15366	PCBP2_HUMAN	Homo sapiens poly(rC) binding protein 2 (PCBP2), transcript variant 4, mRNA.	319	KH 3.				innate immune response|negative regulation of defense response to virus|negative regulation of type I interferon production|nuclear mRNA splicing, via spliceosome|proteasomal ubiquitin-dependent protein catabolic process|response to virus	cytosol|nucleoplasm|ribonucleoprotein complex	DNA binding|RNA binding|ubiquitin protein ligase binding			central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15						TGTCTGGGGCGCAGATCAAAA	0.473000														18			19		0	0	1	0	0
JAM2	58494	broad.mit.edu	37	21	27074552	27074552	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:27074552G>A	uc002ylp.1	+	5	1213	c.668G>A	c.(667-669)cGc>cAc	p.R223H	JAM2_uc011ace.1_Missense_Mutation_p.R223H|JAM2_uc002ylq.1_Non-coding_Transcript|JAM2_uc011acf.1_Missense_Mutation_p.R187H	NM_021219	NP_067042	P57087	JAM2_HUMAN	Homo sapiens junctional adhesion molecule 2 (JAM2), mRNA.	223	Ig-like C2-type.				blood coagulation|cell-cell adhesion|leukocyte migration	integral to plasma membrane|tight junction				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|urinary_tract(1)	19						GTTGGATATCGCAGGTGTCCT	0.398000														19			13		0	0	1	0	0
SORBS1	10580	broad.mit.edu	37	10	97078130	97078130	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:97078130C>T	uc001kkp.3	-	29	3803	c.3758G>A	c.(3757-3759)cGc>cAc	p.R1253H	SORBS1_uc001kkk.3_Missense_Mutation_p.R509H|SORBS1_uc001kkl.3_Missense_Mutation_p.R597H|SORBS1_uc001kkn.3_Missense_Mutation_p.R760H|SORBS1_uc001kkm.3_Missense_Mutation_p.R795H|SORBS1_uc001kko.3_Missense_Mutation_p.R1112H|SORBS1_uc001kkq.3_Missense_Mutation_p.R866H|SORBS1_uc001kkr.3_Missense_Mutation_p.R701H|SORBS1_uc001kks.3_Missense_Mutation_p.R645H|SORBS1_uc001kkt.3_Non-coding_Transcript|SORBS1_uc001kku.3_Missense_Mutation_p.R742H|SORBS1_uc001kkv.3_Missense_Mutation_p.R777H|SORBS1_uc001kkw.3_Missense_Mutation_p.R1227H|SORBS1_uc010qoe.2_Missense_Mutation_p.R710H	NM_001034954	NP_001030126	Q9BX66	SRBS1_HUMAN	Homo sapiens sorbin and SH3 domain containing 1 (SORBS1), transcript variant 3, mRNA.	1253	SH3 3.				focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	SH3/SH2 adaptor activity|actin binding|insulin receptor binding			NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		ATCTCCATCGCGGAGTTCCAA	0.353000														61			23		0	0	1	0	0
KRT25	147183	broad.mit.edu	37	17	38911310	38911310	+	Missense_Mutation	SNP	G	A	A	rs141965826		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:38911310G>A	uc002hve.3	-	0	275	c.214C>T	c.(214-216)Cgg>Tgg	p.R72W		NM_181534	NP_853512	Q7Z3Z0	K1C25_HUMAN	Homo sapiens keratin 25 (KRT25), mRNA.	72	Gly-rich.|Head.					cytoplasm|intermediate filament	structural molecule activity			endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				AGGAGCCCCCGCTCATTCACA	0.572000														61			36		0	0	1	0	0
ATRX	546	broad.mit.edu	37	X	76907780	76907780	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:76907780C>T	uc004ecp.4	-	14	4613	c.4381G>A	c.(4381-4383)Gag>Aag	p.E1461K	ATRX_uc004ecq.4_Missense_Mutation_p.E1423K|ATRX_uc004eco.4_Missense_Mutation_p.E1246K	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	1461	Poly-Glu.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	tcctcctcctcttcctcctcc	0.388000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome							76			36		0	0	1	0	0
FAM108B1	51104	broad.mit.edu	37	9	74489670	74489670	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:74489670G>A	uc004ail.3	-	1	929	c.327C>T	c.(325-327)agC>agT	p.S109S	FAM108B1_uc004aim.1_Silent_p.S109S	NM_016014	NP_057098	Q5VST6	F108B_HUMAN	Homo sapiens family with sequence similarity 108, member B1 (FAM108B1), transcript variant 1, mRNA.	109						extracellular region	hydrolase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(1)	11						CTATGTAAAAGCTGCTCATTT	0.393000														96			13		0	0	1	0	0
ABCD1	215	broad.mit.edu	37	X	153005567	153005567	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153005567C>T	uc004fif.2	+	5	1909	c.1510C>T	c.(1510-1512)Ctc>Ttc	p.L504F		NM_000033	NP_000024	P33897	ABCD1_HUMAN	Homo sapiens ATP-binding cassette, sub-family D (ALD), member 1 (ABCD1), mRNA.	504	ABC transporter.				fatty acid beta-oxidation using acyl-CoA oxidase|peroxisomal membrane transport|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|identical protein binding|peroxisomal fatty-acyl-CoA transporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(2)	18	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CATGCATCTGCTCATCACAGG	0.652000														48			38		0	0	1	0	0
KLHL9	55958	broad.mit.edu	37	9	21333832	21333832	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:21333832C>A	uc003zoy.3	-	0	1598	c.1027G>T	c.(1027-1029)Gct>Tct	p.A343S	KLHL9_uc003zow.3_Intron|KLHL9_uc003zox.3_Non-coding_Transcript	NM_018847	NP_061335	Q9P2J3	KLHL9_HUMAN	Homo sapiens kelch-like 9 (Drosophila) (KLHL9), mRNA.	343					cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex|midbody				endometrium(9)|large_intestine(7)|lung(10)|ovary(4)|skin(2)	32				Lung(24;8.52e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.118)		CCAATGACAGCAATACCATGC	0.408000														61			38		8.69298e-16	1.09754e-15	1	1	0
ZNF518A	9849	broad.mit.edu	37	10	97917326	97917326	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:97917326A>G	uc001klp.3	+	5	2104	c.1247A>G	c.(1246-1248)aAg>aGg	p.K416R	ZNF518A_uc001klo.1_Intron|ZNF518A_uc001klq.3_Missense_Mutation_p.K416R|ZNF518A_uc001klr.3_Missense_Mutation_p.K416R	NM_014803	NP_055618	Q6AHZ1	Z518A_HUMAN	Homo sapiens zinc finger protein 518A (ZNF518A), mRNA.	416					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		GGTTTCATGAAGACTGCTGTA	0.423000														35			24		0	0	1	0	0
KANK2	25959	broad.mit.edu	37	19	11287388	11287388	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:11287388G>A	uc002mqm.3	-	4	1729	c.1650C>T	c.(1648-1650)gcC>gcT	p.A550A	KANK2_uc021upe.1_Silent_p.A542A|KANK2_uc002mqo.4_Silent_p.A542A|KANK2_uc002mqp.1_Silent_p.A351A	NM_015493	NP_056308	Q63ZY3	KANK2_HUMAN	Homo sapiens KN motif and ankyrin repeat domains 2 (KANK2), transcript variant 1, mRNA.	542										endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						GGGGGGCTTCGGCCACACTCG	0.627000														67			26		0	0	1	0	0
ABCC3	8714	broad.mit.edu	37	17	48741188	48741188	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:48741188G>A	uc002isl.3	+	8	1225	c.1145G>A	c.(1144-1146)cGt>cAt	p.R382H	ABCC3_uc002isk.4_Missense_Mutation_p.R382H|ABCC3_uc002ism.3_Missense_Mutation_p.R64H	NM_003786	NP_003777	O15438	MRP3_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 3 (ABCC3), transcript variant 1, mRNA.	382	ABC transmembrane type-1 1.				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	GTGAAGTTTCGTACTGGGATC	0.562000														45			22		0	0	1	0	0
C3orf39	84892	broad.mit.edu	37	3	43121702	43121702	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:43121702G>T	uc003cmr.1	-	1	1565	c.1222C>A	c.(1222-1224)Ccc>Acc	p.P408T	C3orf39_uc003cmq.1_Missense_Mutation_p.P408T|C3orf39_uc021wwn.1_Missense_Mutation_p.P408T	NM_032806	NP_116195	Q8NAT1	AGO61_HUMAN	Homo sapiens chromosome 3 open reading frame 39 (C3orf39), mRNA.	408						extracellular region	transferase activity, transferring glycosyl groups			cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	26				KIRC - Kidney renal clear cell carcinoma(284;0.0571)|Kidney(284;0.0718)		TGATCCCAGGGCCGCTCAGGG	0.617000														36			11		5.50884e-06	6.15991e-06	1	1	0
NLRP1	22861	broad.mit.edu	37	17	5463309	5463309	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:5463309G>A	uc002gci.3	-	3	1262	c.707C>T	c.(706-708)gCg>gTg	p.A236V	NLRP1_uc002gcg.1_Missense_Mutation_p.A236V|NLRP1_uc002gch.4_Missense_Mutation_p.A236V|NLRP1_uc002gck.3_Missense_Mutation_p.A236V|NLRP1_uc002gcj.3_Missense_Mutation_p.A236V|NLRP1_uc002gcl.3_Missense_Mutation_p.A236V|NLRP1_uc010clh.3_Missense_Mutation_p.A236V	NM_033004	NP_127497	Q9C000	NALP1_HUMAN	Homo sapiens NLR family, pyrin domain containing 1 (NLRP1), transcript variant 1, mRNA.	236					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	NALP1 inflammasome complex|cytoplasm|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				TCCTACCACCGCTGCCCATGG	0.552000														38			23		0	0	1	0	0
LAMA2	3908	broad.mit.edu	37	6	129835534	129835534	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:129835534A>G	uc021zfb.1	+	63	9110	c.9005A>G	c.(9004-9006)gAc>gGc	p.D3002G	LAMA2_uc003qbn.3_Missense_Mutation_p.D3000G|LAMA2_uc003qbo.3_Missense_Mutation_p.D2996G|BC035400_uc003qbq.3_Intron	NM_000426	NP_000417	P24043	LAMA2_HUMAN	Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA.	3002	Laminin G-like 5.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TTTCATGTGGACAATGGTGCG	0.428000														23			14		0	0	1	0	0
YTHDC2	64848	broad.mit.edu	37	5	112927863	112927863	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:112927863C>T	uc003kqn.3	+	27	4402	c.4200C>T	c.(4198-4200)agC>agT	p.S1400S		NM_022828	NP_073739	Q9H6S0	YTDC2_HUMAN	Homo sapiens YTH domain containing 2 (YTHDC2), mRNA.	1400	YTH.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		TGCAGATAAGCAGGGATGGGC	0.358000														13			8		0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57767536	57767536	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:57767536G>A	uc002yan.3	+	0	1462	c.1462G>A	c.(1462-1464)Gtc>Atc	p.V488I		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	488						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CTTCCACTCCGTCCCCACTCA	0.692000														18			13		0	0	1	0	0
ADCK1	57143	broad.mit.edu	37	14	78365463	78365463	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:78365463G>T	uc001xui.3	+	5	702	c.603G>T	c.(601-603)aaG>aaT	p.K201N	ADCK1_uc010tvo.1_Non-coding_Transcript|ADCK1_uc001xuj.3_Missense_Mutation_p.K133N|ADCK1_uc001xuk.1_Missense_Mutation_p.K75N	NM_020421	NP_065154	Q86TW2	ADCK1_HUMAN	Homo sapiens aarF domain containing kinase 1 (ADCK1), transcript variant 1, mRNA.	208	Protein kinase.					extracellular region	ATP binding|protein serine/threonine kinase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2)	25			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)		TGGCTGTGAAGCAGCTGTTCC	0.507000														58			48		2.29192e-23	2.98578e-23	1	1	0
SPATA6L	55064	broad.mit.edu	37	9	4625414	4625414	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:4625414A>C	uc011llz.2	-	4	654	c.408T>G	c.(406-408)caT>caG	p.H136Q	SPATA6L_uc003zik.3_Non-coding_Transcript|SPATA6L_uc003zil.3_Non-coding_Transcript|SPATA6L_uc011lly.2_Missense_Mutation_p.H71Q	NM_001039395	NP_001034484	B4DIY4	B4DIY4_HUMAN	Homo sapiens chromosome 9 open reading frame 68 (C9orf68), mRNA.	136																	CCTGGAAGAAATGCCTGGTAG	0.433000														51			7		0	0	1	0	0
KDM5B	10765	broad.mit.edu	37	1	202718086	202718086	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:202718086G>T	uc009xag.3	-	14	2227	c.2111C>A	c.(2110-2112)aCt>aAt	p.T704N	KDM5B_uc001gyf.3_Missense_Mutation_p.T668N|KDM5B_uc001gyg.1_Missense_Mutation_p.T510N	NM_006618	NP_006609	Q9UGL1	KDM5B_HUMAN	Homo sapiens lysine (K)-specific demethylase 5B (KDM5B), mRNA.	668					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						TTTACGGACAGTTTCTCTTAA	0.358000														46			46		4.10826e-27	5.39411e-27	1	1	0
MAP3K3	4215	broad.mit.edu	37	17	61768517	61768517	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:61768517G>A	uc002jbg.3	+	12	1587	c.1268G>A	c.(1267-1269)cGc>cAc	p.R423H	MAP3K3_uc002jbe.3_Missense_Mutation_p.R454H|MAP3K3_uc002jbf.3_Missense_Mutation_p.R454H|MAP3K3_uc002jbh.3_Missense_Mutation_p.R450H|MAP3K3_uc010wpo.2_Missense_Mutation_p.R338H|MAP3K3_uc010wpp.2_Missense_Mutation_p.R419H	NM_002401	NP_002392	Q99759	M3K3_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 3 (MAP3K3), transcript variant 2, mRNA.	423	Protein kinase.				MAPKKK cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autophosphorylation	cytosol	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding	p.R423H(2)		breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	28						CAGCATGAGCGCATCGTGCAG	0.577000														27			24		0	0	1	0	0
UBR5	51366	broad.mit.edu	37	8	103312351	103312351	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:103312351A>G	uc003ykr.2	-	22	3438	c.2983T>C	c.(2983-2985)Tcg>Ccg	p.S995P	UBR5_uc003yks.2_Missense_Mutation_p.S995P	NM_015902	NP_056986	O95071	UBR5_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 5 (UBR5), mRNA.	995					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	RNA binding|protein binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			GCTCTCAACGAACGTCTCATC	0.463000														107			14		0	0	1	0	0
CACNA1F	778	broad.mit.edu	37	X	49063466	49063466	+	Splice_Site	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:49063466C>T	uc004dnb.3	-	44	5326	c.5264_splice	c.e44+1	p.R1755_splice	CACNA1F_uc010nip.3_Splice_Site_p.R1744_splice	NM_005183	NP_005174	O60840	CAC1F_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1F subunit (CACNA1F), mRNA.	1755					axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	GCCAGTGTACCGATCAGGGAC	0.567000														13			6		0	0	1	0	0
NEDD4	4734	broad.mit.edu	37	15	56134236	56134236	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:56134236A>G	uc002adj.3	-	14	3291	c.2991T>C	c.(2989-2991)gaT>gaC	p.D997D	NEDD4_uc002adl.3_Silent_p.D578D|NEDD4_uc002adi.3_Silent_p.D925D|NEDD4_uc010ugj.2_Silent_p.D981D|NEDD4_uc010bfm.3_Silent_p.D980D|NEDD4_uc002adk.3_Non-coding_Transcript	NM_198400	NP_006145	P46934	NEDD4_HUMAN	Homo sapiens neural precursor cell expressed, developmentally down-regulated 4 (NEDD4), transcript variant 2, mRNA.	997	HECT.				development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	RNA polymerase binding|beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		CCTTTTCACCATCAAACTCAA	0.428000														60			35		0	0	1	0	0
GPR61	83873	broad.mit.edu	37	1	110086836	110086836	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:110086836C>T	uc021orh.1	+	0	1192	c.1192C>T	c.(1192-1194)Cga>Tga	p.R398*	GPR61_uc001dxy.2_Nonsense_Mutation_p.R398*	NM_031936	NP_114142	Q9BZJ8	GPR61_HUMAN	Homo sapiens G protein-coupled receptor 61 (GPR61), mRNA.	398						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	23		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)		CTGGGTTTCCCGACCCCTACC	0.597000														30			13		0	0	1	0	0
ORC2	4999	broad.mit.edu	37	2	201800547	201800547	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:201800547C>T	uc002uwr.3	-	8	854	c.583G>A	c.(583-585)Gca>Aca	p.A195T		NM_006190	NP_006181	Q13416	ORC2_HUMAN	Homo sapiens origin recognition complex, subunit 2 (ORC2), transcript variant 1, mRNA.	195					DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint|negative regulation of transcription from RNA polymerase II promoter	nuclear origin of replication recognition complex|nucleoplasm	DNA replication origin binding|protein binding			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	20						TGTTCCTGTGCAACCCCTTCA	0.428000														41			24		0	0	1	0	0
CALML5	51806	broad.mit.edu	37	10	5541121	5541121	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:5541121C>T	uc001iic.2	-	0	413	c.281G>A	c.(280-282)gGc>gAc	p.G94D		NM_017422	NP_059118	Q9NZT1	CALL5_HUMAN	Homo sapiens calmodulin-like 5 (CALML5), mRNA.	94	EF-hand 3.				epidermis development|signal transduction		calcium ion binding|protein binding			biliary_tract(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|stomach(1)	8						GTGGCCGTCGCCATCCTGGTC	0.706000														14			4		0	0	1	0	0
C14orf45	80127	broad.mit.edu	37	14	74516428	74516428	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:74516428G>A	uc010tup.2	+	7	939	c.816G>A	c.(814-816)aaG>aaA	p.K272K	C14orf45_uc001xpm.1_Non-coding_Transcript	NM_025057	NP_079333	Q8ND07	CN045_HUMAN	Homo sapiens chromosome 14 open reading frame 45 (C14orf45), mRNA.	272										large_intestine(1)|lung(2)|prostate(1)	4				BRCA - Breast invasive adenocarcinoma(234;0.00351)		TGTTGGTTAAGGAAAAGATTA	0.413000														24			10		0	0	1	0	0
KLHL30	377007	broad.mit.edu	37	2	239049946	239049946	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:239049946C>T	uc002vxr.2	+	1	658	c.551C>T	c.(550-552)gCc>gTc	p.A184V		NM_198582	NP_940984	Q0D2K2	KLH30_HUMAN	Homo sapiens kelch-like 30 (Drosophila) (KLHL30), mRNA.	184	BACK.									lung(4)	4		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		ACTTGTCTGGCCGGCGACCTG	0.687000														9			4		0	0	1	0	0
TRRAP	8295	broad.mit.edu	37	7	98562283	98562283	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:98562283C>T	uc003upp.3	+	46	7049	c.6840C>T	c.(6838-6840)agC>agT	p.S2280S	TRRAP_uc011kis.2_Silent_p.S2262S|TRRAP_uc003upr.3_Silent_p.S1979S	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.	2280	Interaction with TP53.				histone H2A acetylation|histone H4 acetylation|histone deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CTGCCTGCAGCAACAACCCCA	0.478000														79			21		0	0	1	0	0
ZDHHC18	84243	broad.mit.edu	37	1	27177723	27177723	+	Splice_Site	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:27177723G>A	uc001bnb.3	+	6	1031	c.936_splice	c.e6+1	p.D312_splice	BC016143_uc021ojq.1_Intron	NM_032283	NP_115659	Q9NUE0	ZDH18_HUMAN	Homo sapiens zinc finger, DHHC-type containing 18 (ZDHHC18), mRNA.	312						integral to membrane	zinc ion binding			endometrium(1)|large_intestine(2)	3		all_cancers(24;5.82e-22)|all_epithelial(13;9.91e-20)|Colorectal(325;0.000147)|Breast(348;0.000706)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;5.71e-53)|Epithelial(14;4.73e-52)|OV - Ovarian serous cystadenocarcinoma(117;1.53e-29)|Colorectal(126;1.9e-09)|COAD - Colon adenocarcinoma(152;4.2e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000548)|STAD - Stomach adenocarcinoma(196;0.00065)|KIRC - Kidney renal clear cell carcinoma(1967;0.000779)|GBM - Glioblastoma multiforme(114;0.0265)|READ - Rectum adenocarcinoma(331;0.0455)|Lung(427;0.163)|LUSC - Lung squamous cell carcinoma(448;0.237)		TAATGAAGACGTGAGTAAACC	0.587000														27			19		0	0	1	0	0
PDXK	8566	broad.mit.edu	37	21	45175625	45175625	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:45175625G>T	uc002zdm.4	+	9	1004	c.806G>T	c.(805-807)aGg>aTg	p.R269M	PDXK_uc002zdn.4_Missense_Mutation_p.R241M	NM_003681	NP_003672	O00764	PDXK_HUMAN	Homo sapiens pyridoxal (pyridoxine, vitamin B6) kinase (PDXK), mRNA.	269					cell proliferation|pyridoxal 5'-phosphate salvage	cytosol	ATP binding|lithium ion binding|magnesium ion binding|potassium ion binding|protein homodimerization activity|pyridoxal kinase activity|pyridoxal phosphate binding|sodium ion binding|zinc ion binding			endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5				Colorectal(79;0.109)|READ - Rectum adenocarcinoma(84;0.161)|STAD - Stomach adenocarcinoma(101;0.18)	Pyridoxal(DB00147)|Pyridoxine(DB00165)	GTTCTGCAGAGGACCATCCAG	0.637000														44			33		1.06647e-15	1.3456e-15	1	1	0
TBC1D10B	26000	broad.mit.edu	37	16	30370615	30370615	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:30370615C>T	uc002dxu.2	-	6	1538	c.1520G>A	c.(1519-1521)cGc>cAc	p.R507H	TBC1D10B_uc002dxt.2_5'UTR	NM_015527	NP_056342	Q4KMP7	TB10B_HUMAN	Homo sapiens TBC1 domain family, member 10B (TBC1D10B), mRNA.	507	Rab-GAP TBC.					cytoplasm	Rab GTPase activator activity			endometrium(2)|kidney(1)|lung(2)|urinary_tract(1)	6			Colorectal(24;0.193)			CCGCAGGTGGCGATGCGCCAG	0.652000														3			8		0	0	1	0	0
DOPEY2	9980	broad.mit.edu	37	21	37618224	37618224	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:37618224A>G	uc002yvg.3	+	18	4025	c.3946A>G	c.(3946-3948)Acc>Gcc	p.T1316A	DOPEY2_uc011aeb.2_Missense_Mutation_p.T1265A|DOPEY2_uc002yvh.3_Missense_Mutation_p.T167A	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN	Homo sapiens dopey family member 2 (DOPEY2), mRNA.	1316					Golgi to endosome transport|endoplasmic reticulum organization|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GGAGCTGCTCACCTACCTCTG	0.597000														74			40		0	0	1	0	0
LRP6	4040	broad.mit.edu	37	12	12291271	12291271	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:12291271G>T	uc001rah.4	-	15	3737	c.3595C>A	c.(3595-3597)Ctt>Att	p.L1199I	BCL2L14_uc001raf.1_Intron|LRP6_uc010shl.1_Missense_Mutation_p.L1199I	NM_002336	NP_002327	O75581	LRP6_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 6 (LRP6), mRNA.	1199	Beta-propeller 4.				Wnt receptor signaling pathway involved in dorsal/ventral axis specification|cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	Wnt-protein binding|coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				TATTCTTGAAGGTTCAGCTCC	0.353000														142			11		9.05144e-12	1.10939e-11	1	1	0
CHD1L	9557	broad.mit.edu	37	1	146736231	146736231	+	Nonsense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:146736231G>T	uc001epm.4	+	6	790	c.727G>T	c.(727-729)Gaa>Taa	p.E243*	CHD1L_uc001epn.4_Nonsense_Mutation_p.E130*|CHD1L_uc010ozo.2_Non-coding_Transcript|CHD1L_uc009wjg.3_Non-coding_Transcript|CHD1L_uc009wjh.3_Nonsense_Mutation_p.E243*|CHD1L_uc010ozp.2_Intron|CHD1L_uc001epo.4_Intron|CHD1L_uc010ozq.1_5'UTR|CHD1L_uc009wji.3_5'UTR	NM_004284	NP_004275	Q86WJ1	CHD1L_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 1-like (CHD1L), transcript variant 1, mRNA.	243					DNA repair|chromatin remodeling	cytoplasm|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(923;0.0487)					TATTGAGAAAGAATCTGAGTC	0.453000														52			24		2.79863e-10	3.37315e-10	1	1	0
BPI	671	broad.mit.edu	37	20	36936031	36936031	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:36936031T>C	uc002xib.2	+	1	267	c.205T>C	c.(205-207)Tca>Cca	p.S69P		NM_001725	NP_001716	P17213	BPI_HUMAN	Homo sapiens bactericidal/permeability-increasing protein (BPI), mRNA.	69					defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production	extracellular region|integral to plasma membrane	lipid binding|lipopolysaccharide binding			kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)				TCCTGACTACTCAGACAGCTT	0.527000														55			27		0	0	1	0	0
CCT8L2	150160	broad.mit.edu	37	22	17072024	17072024	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:17072024C>A	uc002zlp.1	-	0	1677	c.1417G>T	c.(1417-1419)Ggt>Tgt	p.G473C		NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 8 (theta)-like 2 (CCT8L2), mRNA.	473					cellular protein metabolic process	cytoplasm	ATP binding|anion channel activity|calcium-activated potassium channel activity			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				AGGTTCCCACCTTGGTGCACT	0.507000														114			12		7.93312e-07	9.03407e-07	1	1	0
IL1B	3553	broad.mit.edu	37	2	113590400	113590400	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:113590400G>T	uc002tii.1	-	4	392	c.305C>A	c.(304-306)cCt>cAt	p.P102H	IL1B_uc002tih.1_Missense_Mutation_p.P71H	NM_000576	NP_000567	P01584	IL1B_HUMAN	Homo sapiens interleukin 1, beta (IL1B), mRNA.	102					activation of MAPK activity|anti-apoptosis|apoptosis|cell-cell signaling|cellular response to drug|cellular response to mechanical stimulus|cytokine-mediated signaling pathway|embryo implantation|fever generation|negative regulation of MAP kinase activity|negative regulation of adiponectin secretion|negative regulation of cell proliferation|negative regulation of glucose transport|negative regulation of insulin receptor signaling pathway|negative regulation of lipid catabolic process|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell proliferation|positive regulation of angiogenesis|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of cell adhesion molecule production|positive regulation of cell division|positive regulation of fever generation|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of heterotypic cell-cell adhesion|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of interferon-gamma production|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of lipid catabolic process|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mitosis|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myosin light chain kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|positive regulation of protein export from nucleus|positive regulation vascular endothelial growth factor production|regulation of insulin secretion|sequestering of triglyceride|smooth muscle adaptation	cytosol|extracellular space	cytokine activity|growth factor activity|interleukin-1 receptor binding|protein domain specific binding			breast(2)|central_nervous_system(1)|large_intestine(1)|lung(8)	12					Anakinra(DB00026)|Minocycline(DB01017)|Procaterol(DB01366)	GAAGAAGATAGGTTCTGAAAT	0.493000														52			5		0.184627	0.186034	1	1	0
TTC29	83894	broad.mit.edu	37	4	147741308	147741308	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:147741308C>T	uc003ikx.4	-	10	1398	c.1148G>A	c.(1147-1149)aGt>aAt	p.S383N	TTC29_uc003ikw.4_Missense_Mutation_p.S357N|TTC29_uc010ipc.3_Non-coding_Transcript|TTC29_uc010ipd.1_Missense_Mutation_p.S357N	NM_031956	NP_114162	Q8NA56	TTC29_HUMAN	Homo sapiens tetratricopeptide repeat domain 29 (TTC29), mRNA.	357							binding			breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					AAGCATTGTACTTGCTCTCAC	0.338000														88			5		0	0	1	0	0
ZFP42	132625	broad.mit.edu	37	4	188924381	188924381	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:188924381G>A	uc003izh.1	+	3	828	c.420G>A	c.(418-420)tcG>tcA	p.S140S	ZFP42_uc003izi.1_Silent_p.S140S|ZFP42_uc021xvm.1_Silent_p.S140S	NM_174900	NP_777560	Q96MM3	ZFP42_HUMAN	Homo sapiens zinc finger protein 42 homolog (mouse) (ZFP42), mRNA.	140					female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		GAGAGAATTCGCTTGAGTATT	0.423000														67			49		0	0	1	0	0
CASD1	64921	broad.mit.edu	37	7	94157499	94157499	+	Splice_Site	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:94157499G>T	uc003uni.4	+	5	624	c.397_splice	c.e5-1	p.D133_splice	CASD1_uc003unh.2_Splice_Site_p.D133_splice|CASD1_uc003unj.4_Splice_Site_p.D133_splice	NM_022900	NP_075051	Q96PB1	CASD1_HUMAN	Homo sapiens CAS1 domain containing 1 (CASD1), mRNA.	133						integral to membrane				NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	31	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			TTCTCTTTTAGGATTTTCTGT	0.289000														113			7		0.000673444	0.000715966	1	1	0
HERC4	26091	broad.mit.edu	37	10	69750132	69750132	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:69750132A>C	uc001jng.4	-	13	1780	c.1469T>G	c.(1468-1470)cTt>cGt	p.L490R	HERC4_uc009xpq.3_Missense_Mutation_p.L31R|HERC4_uc001jnf.4_Non-coding_Transcript|HERC4_uc001jnh.4_Missense_Mutation_p.L490R|HERC4_uc009xpr.3_Missense_Mutation_p.L490R|HERC4_uc001jni.4_Missense_Mutation_p.L234R|HERC4_uc021prr.1_5'UTR	NM_022079	NP_071362	Q5GLZ8	HERC4_HUMAN	Homo sapiens hect domain and RLD 4 (HERC4), transcript variant 1, mRNA.	490					cell differentiation|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis	cytosol	ubiquitin-protein ligase activity			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	27						TTTAGGAATAAGATTCTTTTC	0.328000														39			9		0	0	1	0	0
NRAP	4892	broad.mit.edu	37	10	115406696	115406696	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:115406696C>T	uc001lal.3	-	9	1143	c.979G>A	c.(979-981)Gaa>Aaa	p.E327K	NRAP_uc001laj.3_Missense_Mutation_p.E327K|NRAP_uc001lak.3_Missense_Mutation_p.E327K	NM_198060	NP_932326	Q86VF7	NRAP_HUMAN	Homo sapiens nebulin-related anchoring protein (NRAP), transcript variant 2, mRNA.	327						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding	p.E327K(6)|p.E327*(2)		autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		CTAGCGAGTTCGTGAGCTTTC	0.527000														61			29		0	0	1	0	0
U2SURP	23350	broad.mit.edu	37	3	142731109	142731109	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:142731109C>T	uc003evh.1	+	2	235	c.136C>T	c.(136-138)Cga>Tga	p.R46*	U2SURP_uc003evi.1_5'UTR|U2SURP_uc011bnj.1_Nonsense_Mutation_p.R46*|U2SURP_uc003evj.1_Non-coding_Transcript|U2SURP_uc003evk.1_Nonsense_Mutation_p.R46*	NM_001080415	NP_001073884	O15042	SR140_HUMAN	Homo sapiens U2 snRNP-associated SURP domain containing (U2SURP), mRNA.	46					RNA processing	nucleus	RNA binding|nucleotide binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	31						AAGTCGGACACGACCTAAGAG	0.378000														22			3		0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124283889	124283889	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:124283889G>T	uc001uft.4	+	12	1931	c.1906G>T	c.(1906-1908)Gct>Tct	p.A636S	DNAH10_uc010tav.1_Missense_Mutation_p.A178S|DNAH10_uc010taw.1_Missense_Mutation_p.A121S	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	636	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GGTGCTGCCAGCTCTCATGAA	0.502000														42			4		0.00198382	0.00208369	1	1	0
PLXNB2	23654	broad.mit.edu	37	22	50718975	50718975	+	Missense_Mutation	SNP	A	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:50718975A>T	uc003bkv.4	-	24	4211	c.4118T>A	c.(4117-4119)tTc>tAc	p.F1373Y	PLXNB2_uc003bkt.1_Missense_Mutation_p.F165Y|PLXNB2_uc003bku.1_Missense_Mutation_p.F358Y	NM_012401	NP_036533	O15031	PLXB2_HUMAN	Homo sapiens plexin B2 (PLXNB2), mRNA.	1373					regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GAGCTCCAGGAAGAGCGTGTG	0.672000														59			10		0	0	1	0	0
RALGAPA1	253959	broad.mit.edu	37	14	36217850	36217850	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:36217850G>A	uc001wtj.3	-	9	1583	c.1192C>T	c.(1192-1194)Cgc>Tgc	p.R398C	RALGAPA1_uc001wti.3_Missense_Mutation_p.R398C|RALGAPA1_uc010tpv.2_Missense_Mutation_p.R398C|RALGAPA1_uc010tpw.1_Missense_Mutation_p.R398C|RALGAPA1_uc001wtk.1_Missense_Mutation_p.R249C	NM_194301	NP_919277	Q6GYQ0	RGPA1_HUMAN	Homo sapiens Ral GTPase activating protein, alpha subunit 1 (catalytic) (RALGAPA1), transcript variant 2, mRNA.	398					activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	Ral GTPase activator activity|protein heterodimerization activity	p.R398C(4)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						AAAACTCTGCGAACTATTTCA	0.368000														24			23		0	0	1	0	0
LRIG3	121227	broad.mit.edu	37	12	59307811	59307811	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:59307811G>A	uc001sqr.3	-	2	581	c.335C>T	c.(334-336)aCc>aTc	p.T112I	LRIG3_uc009zqh.3_Missense_Mutation_p.T52I|LRIG3_uc010ssh.2_Non-coding_Transcript	NM_153377	NP_700356	Q6UXM1	LRIG3_HUMAN	Homo sapiens leucine-rich repeats and immunoglobulin-like domains 3 (LRIG3), transcript variant 2, mRNA.	112						integral to membrane			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			ATTTGGAATGGTCTCCAATTC	0.363000			T	ROS1	NSCLC									34			29		0	0	1	0	0
LMBR1	64327	broad.mit.edu	37	7	156555833	156555833	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:156555833A>G	uc010lqn.3	-	6	803	c.588T>C	c.(586-588)tgT>tgC	p.C196C	LMBR1_uc003wmv.4_Silent_p.C44C|LMBR1_uc003wmw.4_Silent_p.C196C|LMBR1_uc003wmx.4_Silent_p.C44C|LMBR1_uc011kvx.2_Silent_p.C175C	NM_022458	NP_071903	Q8WVP7	LMBR1_HUMAN	Homo sapiens limb region 1 homolog (mouse) (LMBR1), mRNA.	196						integral to membrane	receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	18	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.208)		TCAATGATATACAGGAATATA	0.294000														40			4		0	0	1	0	0
CBR4	84869	broad.mit.edu	37	4	169923300	169923300	+	Nonsense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:169923300C>A	uc003iry.3	-	3	685	c.457G>T	c.(457-459)Gga>Tga	p.G153*	CBR4_uc011cjy.2_Non-coding_Transcript|CBR4_uc003irz.2_Nonsense_Mutation_p.G153*	NM_032783	NP_116172	Q8N4T8	CBR4_HUMAN	Homo sapiens carbonyl reductase 4 (CBR4), mRNA.	153					fatty acid biosynthetic process|protein homotetramerization	mitochondrial matrix	NADPH binding|NADPH dehydrogenase (quinone) activity|protein binding|quinone binding			kidney(1)|large_intestine(2)|lung(2)	5		Prostate(90;0.00263)|Renal(120;0.0183)|Melanoma(52;0.123)		GBM - Glioblastoma multiforme(119;0.0321)		ACTAATCCTCCTTTACTGGCA	0.343000														37			4		0.014758	0.0151755	1	1	0
GAS2L2	246176	broad.mit.edu	37	17	34072536	34072536	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:34072536C>A	uc002hjv.2	-	5	2008	c.1980G>T	c.(1978-1980)caG>caT	p.Q660H		NM_139285	NP_644814	Q8NHY3	GA2L2_HUMAN	Homo sapiens growth arrest-specific 2 like 2 (GAS2L2), mRNA.	660					cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ATGGGGACCCCTGAGCCAGTT	0.627000														137			11		1.58986e-06	1.80238e-06	1	1	0
DGKA	1606	broad.mit.edu	37	12	56335065	56335065	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56335065T>C	uc001sij.3	+	13	1395	c.1131T>C	c.(1129-1131)ctT>ctC	p.L377L	DGKA_uc001sih.1_Silent_p.L265L|DGKA_uc001sii.1_Silent_p.L235L|DGKA_uc009zod.1_Silent_p.L296L|DGKA_uc001sik.3_Silent_p.L377L|DGKA_uc001sil.3_Silent_p.L377L|DGKA_uc001sim.3_Silent_p.L377L|DGKA_uc001sin.3_Silent_p.L377L|DGKA_uc009zof.3_Silent_p.L23L|DGKA_uc001sio.3_Silent_p.L119L	NM_001345	NP_963848	P23743	DGKA_HUMAN	Homo sapiens diacylglycerol kinase, alpha 80kDa (DGKA), transcript variant 3, mRNA.	377	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25					Vitamin E(DB00163)	CCCACCCACTTCTCGTCTTTG	0.498000														80			46		0	0	1	0	0
DNAH1	25981	broad.mit.edu	37	3	52427409	52427409	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52427409A>G	uc011bef.2	+	65	10795	c.10534A>G	c.(10534-10536)Aac>Gac	p.N3512D	DNAH1_uc003ddv.3_Missense_Mutation_p.N370D	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA.	3577					ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CCTCTACAGCAACGTCTGCCG	0.542000														30			17		0	0	1	0	0
SBNO1	55206	broad.mit.edu	37	12	123789129	123789129	+	Splice_Site	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:123789129C>A	uc010tap.2	-	28	3768	c.3768_splice	c.e28+1	p.K1256_splice	SBNO1_uc009zxv.3_Splice_Site|SBNO1_uc010tao.2_Splice_Site_p.K1255_splice|SBNO1_uc010taq.2_Splice_Site_p.K207_splice|SBNO1_uc001ues.1_Missense_Mutation_p.K207N	NM_001167856	NP_001161328	A3KN83	SBNO1_HUMAN	Homo sapiens strawberry notch homolog 1 (Drosophila) (SBNO1), transcript variant 1, mRNA.	1256							ATP binding|DNA binding|hydrolase activity			NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		GAAAAAATACCTTCTTATATT	0.348000														21			4		0.00909568	0.00940365	1	1	0
ERC1	23085	broad.mit.edu	37	12	1291148	1291148	+	Nonsense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:1291148G>T	uc001qjb.2	+	9	2174	c.1933G>T	c.(1933-1935)Gag>Tag	p.E645*	ERC1_uc001qiz.2_Non-coding_Transcript|ERC1_uc001qjc.2_Nonsense_Mutation_p.E617*|ERC1_uc001qja.2_Non-coding_Transcript|ERC1_uc001qjd.2_Non-coding_Transcript|ERC1_uc001qjf.2_Nonsense_Mutation_p.E645*|ERC1_uc010sdv.1_Nonsense_Mutation_p.E393*|ERC1_uc009zdp.3_Nonsense_Mutation_p.E285*	NM_178040	NP_829884	Q8IUD2	RB6I2_HUMAN	Homo sapiens ELKS/RAB6-interacting/CAST family member 1 (ERC1), transcript variant epsilon, mRNA.	645					I-kappaB phosphorylation|multicellular organismal development|positive regulation of NF-kappaB transcription factor activity|positive regulation of anti-apoptosis|protein transport	Golgi membrane|IkappaB kinase complex|presynaptic membrane	leucine zipper domain binding			NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			AGAGAAGCAAGAGGAAATTGA	0.413000														33			8		0.000157383	0.000170012	1	1	0
SIAE	54414	broad.mit.edu	37	11	124509617	124509617	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:124509617C>T	uc001qan.3	-	7	1286	c.1113G>A	c.(1111-1113)tcG>tcA	p.S371S	SIAE_uc021qru.1_Silent_p.S336S	NM_170601	NP_001186851	Q9HAT2	SIAE_HUMAN	Homo sapiens sialic acid acetylesterase (SIAE), transcript variant 1, mRNA.	371						extracellular region|lysosome	carboxylesterase activity|sialate O-acetylesterase activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	15	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0243)		TGCCAAAAGGCGAGTCTCTAT	0.468000														69			45		0	0	1	0	0
RGAG4	340526	broad.mit.edu	37	X	71350056	71350056	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:71350056C>A	uc010nlh.2	-	0	1335	c.1335G>T	c.(1333-1335)gaG>gaT	p.E445D	NHSL2_uc011mqa.2_Intron|RGAG4_uc004eaj.2_Missense_Mutation_p.E445D	NM_001024455	NP_001019626	Q5HYW3	RGAG4_HUMAN	Homo sapiens retrotransposon gag domain containing 4 (RGAG4), mRNA.	445										cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24	Renal(35;0.156)					CATAGGTCTCCTCAGTCCCTG	0.532000														67			43		1.61863e-15	2.04032e-15	1	1	0
KLHL15	80311	broad.mit.edu	37	X	24007070	24007070	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:24007070A>G	uc004dba.4	-	3	1039	c.783T>C	c.(781-783)aaT>aaC	p.N261N		NM_030624	NP_085127	Q96M94	KLH15_HUMAN	Homo sapiens kelch-like 15 (Drosophila) (KLHL15), mRNA.	261										autonomic_ganglia(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	22						GCTGGTGAACATTCTGAAAGT	0.398000														87			57		0	0	1	0	0
DDX47	51202	broad.mit.edu	37	12	12976874	12976874	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:12976874A>C	uc001rav.3	+	10	1419	c.821A>C	c.(820-822)aAt>aCt	p.N274T	DDX47_uc009zhw.1_Missense_Mutation_p.N274T|DDX47_uc001rax.3_Missense_Mutation_p.N274T|DDX47_uc001ray.3_Intron	NM_016355	NP_057439	Q9H0S4	DDX47_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 47 (DDX47), transcript variant 1, mRNA.	274	Helicase C-terminal.					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding|protein binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		Prostate(47;0.0526)		BRCA - Breast invasive adenocarcinoma(232;0.0354)		AGCACCTGTAATAATACCCAG	0.403000														68			49		0	0	1	0	0
TULP3	7289	broad.mit.edu	37	12	3039511	3039511	+	Splice_Site	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:3039511C>T	uc001qlj.2	+	5	573	c.492_splice	c.e5+1	p.T164_splice	TULP3_uc010sef.1_Splice_Site|TULP3_uc009zec.1_Splice_Site|TULP3_uc010seh.1_Splice_Site_p.T164_splice|TULP3_uc010sei.1_Intron	NM_001160408	NP_001153880	O75386	TULP3_HUMAN	Homo sapiens tubby like protein 3 (TULP3), transcript variant 2, mRNA.	164					G-protein coupled receptor protein signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|extracellular region|nucleus|plasma membrane	phosphatidylinositol-4,5-bisphosphate binding			endometrium(1)|large_intestine(4)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			AGAATTCAACCGTATGTAGTT	0.333000														20			6		0	0	1	0	0
RBMXL1	494115	broad.mit.edu	37	1	89448746	89448746	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:89448746T>C	uc021opo.1	-	0	764	c.764A>G	c.(763-765)tAt>tGt	p.Y255C	CCBL2_uc001dmp.2_Intron|CCBL2_uc001dmq.2_Intron|CCBL2_uc001dmr.2_Intron|RBMXL1_uc009wcx.3_Missense_Mutation_p.Y255C|RBMXL1_uc001dms.3_Missense_Mutation_p.Y255C	NM_019610	NP_062556	Q96E39	RBMXL_HUMAN	Homo sapiens RNA binding motif protein, X-linked-like 1 (RBMXL1), transcript variant 2, mRNA.	255							RNA binding|nucleotide binding										TCTTGATGGATAGTCATCACG	0.428000														202			8		0	0	1	0	0
RNF128	79589	broad.mit.edu	37	X	106016254	106016254	+	Missense_Mutation	SNP	A	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:106016254A>T	uc004eml.3	+	1	846	c.596A>T	c.(595-597)cAt>cTt	p.H199L	RNF128_uc004emk.3_Missense_Mutation_p.H173L	NM_194463	NP_919445	Q8TEB7	RN128_HUMAN	Homo sapiens ring finger protein 128 (RNF128), transcript variant 1, mRNA.	199						endomembrane system|integral to membrane|perinuclear region of cytoplasm	zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						GGGAAAAAACATGGCCCTTGG	0.373000														103			47		0	0	1	0	0
SORL1	6653	broad.mit.edu	37	11	121483485	121483485	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:121483485C>T	uc001pxx.3	+	39	5492	c.5363C>T	c.(5362-5364)aCc>aTc	p.T1788I	SORL1_uc010rzp.1_Missense_Mutation_p.T634I|SORL1_uc010rzq.1_Missense_Mutation_p.T403I	NM_003105	NP_003096	Q92673	SORL_HUMAN	Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA.	1788	Fibronectin type-III 3.				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		GCATTTGACACCCACAAGCAA	0.468000														17			12		0	0	1	0	0
EPG5	57724	broad.mit.edu	37	18	43523147	43523147	+	Missense_Mutation	SNP	C	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:43523147C>G	uc002lbm.3	-	8	2023	c.1923G>C	c.(1921-1923)aaG>aaC	p.K641N	EPG5_uc002lbo.1_Missense_Mutation_p.K641N	NM_020964	NP_066015	Q9HCE0	EPG5_HUMAN	Homo sapiens ectopic P-granules autophagy protein 5 homolog (C. elegans) (EPG5), mRNA.	641					autophagy					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						AACCAATTCGCTTCACAAACT	0.428000														59			22		0	0	1	0	0
GIMAP1-GIMAP5	100527949	broad.mit.edu	37	7	150417510	150417510	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:150417510G>A	uc003whq.3	+	2	558	c.418G>A	c.(418-420)Ggg>Agg	p.G140R	GIMAP1-GIMAP5_uc022apw.1_Intron	NM_130759	NP_570115			Homo sapiens GTPase, IMAP family member 1 (GIMAP1), mRNA.																		GGACATGTTCGGGGAGGACGT	0.652000														30			35		0	0	1	0	0
SLC25A17	10478	broad.mit.edu	37	22	41175130	41175130	+	Splice_Site	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:41175130C>T	uc003azc.3	-	5	475	c.335_splice	c.e5-1	p.G112_splice	SLC25A17_uc010gyg.3_Splice_Site|SLC25A17_uc011aou.2_Splice_Site_p.G75_splice|SLC25A17_uc003azd.3_Splice_Site|SLC25A17_uc011aov.2_Splice_Site_p.G39_splice	NM_006358	NP_006349	O43808	PM34_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier; peroxisomal membrane protein, 34kDa), member 17 (SLC25A17), nuclear gene encoding mitochondrial protein, mRNA.	112					fatty acid alpha-oxidation	integral to plasma membrane|mitochondrial inner membrane|peroxisomal membrane	adenine nucleotide transmembrane transporter activity|protein binding			central_nervous_system(1)|large_intestine(4)|lung(2)|skin(1)	8						TTAACCACTCCTTTAACAAGA	0.378000														32			4		0	0	1	0	0
NSD1	64324	broad.mit.edu	37	5	176722240	176722240	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:176722240C>A	uc003mfr.4	+	22	8009	c.7871C>A	c.(7870-7872)cCc>cAc	p.P2624H	NSD1_uc003mft.4_Missense_Mutation_p.P2355H|NSD1_uc011dfx.2_Missense_Mutation_p.P2272H|NSD1_uc021yip.1_Missense_Mutation_p.P448H	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	Homo sapiens nuclear receptor binding SET domain protein 1 (NSD1), transcript variant 2, mRNA.	2624					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		GAGCAAAGTCCCTGGGCCCTG	0.587000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)				49			7		0.00198382	0.00208369	1	1	0
HDAC3	8841	broad.mit.edu	37	5	141007475	141007475	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:141007475C>A	uc003llf.2	-	9	881	c.815G>T	c.(814-816)aGc>aTc	p.S272I	HDAC3_uc003lle.1_Missense_Mutation_p.S215I	NM_003883	NP_003874	O15379	HDAC3_HUMAN	Homo sapiens histone deacetylase 3 (HDAC3), mRNA.	272	Histone deacetylase.				anti-apoptosis|cellular lipid metabolic process|negative regulation of JNK cascade|negative regulation of cell cycle|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|spindle assembly|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|spindle microtubule|transcriptional repressor complex	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|transcription corepressor activity|transcription factor binding			endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Vorinostat(DB02546)	CCCTCGGATGCTGAGGTTAAA	0.527000														60			6		0.000157383	0.000170012	1	1	0
GLB1L3	112937	broad.mit.edu	37	11	134179596	134179596	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:134179596C>T	uc009zdf.3	+	10	1398	c.1038C>T	c.(1036-1038)aaC>aaT	p.N346N	GLB1L3_uc010scu.1_Silent_p.N47N|GLB1L3_uc001qho.4_Non-coding_Transcript	NM_001080407	NP_001073876	Q8NCI6	GLBL3_HUMAN	Homo sapiens galactosidase, beta 1-like 3 (GLB1L3), mRNA.	346					carbohydrate metabolic process		cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		GTGGAACCAACTTTGGTTTCA	0.478000														10			5		0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54307635	54307635	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:54307635T>C	uc021smr.1	+	0	2535	c.2535T>C	c.(2533-2535)agT>agC	p.S845S	UNC13C_uc021sms.1_Silent_p.S845S	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	845					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		ATGAGTCAAGTACCACACTTG	0.428000														29			22		0	0	1	0	0
KIAA0195	9772	broad.mit.edu	37	17	73491697	73491697	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:73491697C>T	uc010wsa.2	+	20	3139	c.2947C>T	c.(2947-2949)Ccc>Tcc	p.P983S	KIAA0195_uc002jnz.4_Missense_Mutation_p.P973S|KIAA0195_uc010wsb.2_Missense_Mutation_p.P613S|KIAA0195_uc002job.4_5'UTR	NM_014738	NP_055553	Q12767	K0195_HUMAN	Homo sapiens KIAA0195 (KIAA0195), mRNA.	973					ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism			breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			CCTGCTAGTGCCCCTTTTCAC	0.637000														128			78		0	0	1	0	0
DHX30	22907	broad.mit.edu	37	3	47888408	47888408	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:47888408T>C	uc003cru.3	+	10	2272	c.1846T>C	c.(1846-1848)Tac>Cac	p.Y616H	DHX30_uc003crt.3_Missense_Mutation_p.Y577H|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.	616						mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|RNA binding|protein 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)		TGGCTTCATGTACCCAGTCAA	0.617000														13			12		0	0	1	0	0
SLC39A9	55334	broad.mit.edu	37	14	69908929	69908929	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:69908929G>A	uc001xle.3	+	2	1051	c.349G>A	c.(349-351)Gtt>Att	p.V117I	SLC39A9_uc021rvg.1_5'UTR|SLC39A9_uc021rvh.1_5'UTR|SLC39A9_uc001xlf.4_Missense_Mutation_p.V117I|SLC39A9_uc010aqx.3_Missense_Mutation_p.V117I|SLC39A9_uc001xlg.4_Non-coding_Transcript	NM_018375	NP_060845	Q9NUM3	S39A9_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 9 (SLC39A9), transcript variant 1, mRNA.	117					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|skin(1)|stomach(1)	14				all cancers(60;0.00299)|BRCA - Breast invasive adenocarcinoma(234;0.0145)|OV - Ovarian serous cystadenocarcinoma(108;0.0373)		TCTGGGCTTCGTTTTCATGTT	0.488000														159			18		0	0	1	0	0
UBR5	51366	broad.mit.edu	37	8	103312275	103312275	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:103312275G>T	uc003ykr.2	-	22	3514	c.3059C>A	c.(3058-3060)cCc>cAc	p.P1020H	UBR5_uc003yks.2_Missense_Mutation_p.P1020H	NM_015902	NP_056986	O95071	UBR5_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 5 (UBR5), mRNA.	1020					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	RNA binding|protein binding|ubiquitin-ubiquitin ligase activity|zinc ion binding	p.P1019T(1)		NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			GGGAGCTATGGGGGGTGAAAC	0.478000														117			9		3.86212e-05	4.23294e-05	1	1	0
ZNF276	92822	broad.mit.edu	37	16	89795646	89795646	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:89795646C>T	uc002fos.4	+	5	1186	c.1089C>T	c.(1087-1089)gaC>gaT	p.D363D	ZNF276_uc010ciq.3_Silent_p.D149D|ZNF276_uc002foq.4_Silent_p.D288D|ZNF276_uc010cir.3_Non-coding_Transcript|ZNF276_uc002for.4_Silent_p.D149D|ZNF276_uc010cis.3_Silent_p.D122D|ZNF276_uc002fot.4_Non-coding_Transcript|ZNF276_uc010vpm.2_Silent_p.D201D|ZNF276_uc010cit.2_Silent_p.D122D	NM_001113525	NP_001106997	Q8N554	ZN276_HUMAN	Homo sapiens zinc finger protein 276 (ZNF276), transcript variant a, mRNA.	363					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)	14		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		TTCCTAGAGACGTCTTGAGTG	0.512000														38			19		0	0	1	0	0
IRF9	10379	broad.mit.edu	37	14	24633164	24633164	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:24633164G>T	uc001wmq.3	+	4	1393	c.573G>T	c.(571-573)caG>caT	p.Q191H	RNF31_uc001wmp.3_Non-coding_Transcript|IRF9_uc010alj.3_Missense_Mutation_p.Q89H	NM_006084	NP_006075	Q00978	IRF9_HUMAN	Homo sapiens interferon regulatory factor 9 (IRF9), mRNA.	191					interferon-gamma-mediated signaling pathway|response to virus|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|nucleoplasm	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(265;0.00853)		CTGAGCCACAGGAAGGTACCA	0.607000														61			8		0.00448238	0.0046769	1	1	0
IGIP	492311	broad.mit.edu	37	5	139508090	139508090	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:139508090G>A	uc003lfb.1	+	0	2570	c.29G>A	c.(28-30)cGc>cAc	p.R10H		NM_001007189	NP_001007190	A6NJ69	IGIP_HUMAN	Homo sapiens IgA-inducing protein homolog (Bos taurus) (IGIP), mRNA.	10						extracellular region											ATGAAGAAACGCAGTGTGTCG	0.373000														48			19		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179583670	179583670	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179583670G>T	uc021vsy.1	-	80	20750	c.20525C>A	c.(20524-20526)tCt>tAt	p.S6842Y	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.S3503Y	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	7769	Ig-like 50.						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)			AACTTCCACAGAATCAGGGGT	0.468000														10			11		2.80697e-09	3.3309e-09	1	1	0
PTPN23	25930	broad.mit.edu	37	3	47450427	47450427	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:47450427T>C	uc003crf.1	+	15	1588	c.1492T>C	c.(1492-1494)Tgg>Cgg	p.W498R	PTPN23_uc011baw.1_Missense_Mutation_p.W463R|PTPN23_uc011bax.1_Non-coding_Transcript|PTPN23_uc011bay.1_Missense_Mutation_p.W368R	NM_015466	NP_056281	Q9H3S7	PTN23_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 23 (PTPN23), mRNA.	498					cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GAGGCGAGAATGGGCCAAGTA	0.612000														77			43		0	0	1	0	0
FSCN1	6624	broad.mit.edu	37	7	5643168	5643168	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:5643168G>A	uc003sou.3	+	2	1163	c.1031G>A	c.(1030-1032)cGc>cAc	p.R344H	FSCN1_uc003sov.3_Missense_Mutation_p.R66H	NM_003088	NP_003079	Q16658	FSCN1_HUMAN	Homo sapiens fascin homolog 1, actin-bundling protein (Strongylocentrotus purpuratus) (FSCN1), mRNA.	344					actin filament bundle assembly|cell migration|cell proliferation	cell junction|cytoplasm|filopodium|invadopodium|stress fiber	actin filament binding|drug binding|protein binding, bridging			central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;1.21e-13)		CGTGACCGGCGCATCACACTG	0.622000														48			10		0	0	1	0	0
WFS1	7466	broad.mit.edu	37	4	6304188	6304188	+	Missense_Mutation	SNP	C	T	T	rs147934586		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:6304188C>T	uc003giy.3	+	7	2832	c.2666C>T	c.(2665-2667)gCg>gTg	p.A889V	WFS1_uc003gix.3_Missense_Mutation_p.A889V|WFS1_uc003giz.3_Missense_Mutation_p.A707V	NM_001145853	NP_005996	O76024	WFS1_HUMAN	Homo sapiens Wolfram syndrome 1 (wolframin) (WFS1), transcript variant 2, mRNA.	889					ER overload response|ER-associated protein catabolic process|endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	ATPase binding|activating transcription factor binding|transporter activity|ubiquitin protein ligase binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		TTCCTGTCGGCGGCCTGAGGA	0.637000														12			10		0	0	1	0	0
TGFBRAP1	9392	broad.mit.edu	37	2	105924279	105924279	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:105924279G>A	uc002tcq.3	-	1	564	c.480C>T	c.(478-480)atC>atT	p.I160I	TGFBRAP1_uc002tcr.4_Silent_p.I160I	NM_004257	NP_004248	Q8WUH2	TGFA1_HUMAN	Homo sapiens transforming growth factor, beta receptor associated protein 1 (TGFBRAP1), transcript variant 1, mRNA.	160	CNH.				regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding			central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						CCTCCTTGACGATCTGCACCC	0.552000														105			78		0	0	1	0	0
ZSCAN20	7579	broad.mit.edu	37	1	33960239	33960239	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:33960239C>A	uc001bxj.4	+	7	2462	c.2295C>A	c.(2293-2295)ccC>ccA	p.P765P	ZSCAN20_uc009vui.3_Silent_p.P764P	NM_145238	NP_660281	P17040	ZSC20_HUMAN	Homo sapiens zinc finger and SCAN domain containing 20 (ZSCAN20), mRNA.	765					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				GAGAGAAGCCCTATAAATGCC	0.433000														65			32		2.48696e-23	3.23913e-23	1	1	0
OR1M1	125963	broad.mit.edu	37	19	9204427	9204427	+	Silent	SNP	C	T	T	rs143401934	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9204427C>T	uc010xkj.2	+	0	507	c.507C>T	c.(505-507)tgC>tgT	p.C169C		NM_001004456	NP_001004456	Q8NGA1	OR1M1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily M, member 1 (OR1M1), mRNA.	169					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						TCGTTTTCTGCGGCAGCCATG	0.577000														41			32		0	0	1	0	0
ATRX	546	broad.mit.edu	37	X	76776885	76776885	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:76776885G>T	uc004ecp.4	-	32	7299	c.7067C>A	c.(7066-7068)gCt>gAt	p.A2356D	ATRX_uc004ecq.4_Missense_Mutation_p.A2318D|ATRX_uc004eco.4_Missense_Mutation_p.A2141D	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	2356					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.S2355L(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	GCTTACTACAGCTGAAATTAT	0.363000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome							68			6		2.0095e-06	2.27092e-06	1	1	0
ZNF324B	388569	broad.mit.edu	37	19	58967899	58967899	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58967899C>T	uc002qsv.1	+	3	1695	c.1588C>T	c.(1588-1590)Cgc>Tgc	p.R530C	ZNF324B_uc002qsu.1_Missense_Mutation_p.R520C|ZNF324B_uc010euq.1_Missense_Mutation_p.R530C	NM_207395	NP_997278	Q6AW86	Z324B_HUMAN	Homo sapiens zinc finger protein 324B (ZNF324B), mRNA.	530					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		TCGGAAGGTGCGCCGGGGAGG	0.607000														26			21		0	0	1	0	0
SIGLEC11	114132	broad.mit.edu	37	19	50461747	50461747	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:50461747C>T	uc010ybh.2	-	7	1535	c.1444G>A	c.(1444-1446)Gcc>Acc	p.A482T	SIGLEC11_uc010ybi.2_Intron	NM_052884	NP_443116	Q96RL6	SIG11_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 11 (SIGLEC11), transcript variant 1, mRNA.	482					cell adhesion	integral to membrane	sugar binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		AGAGAGGGGGCCGGGCTGGCC	0.706000														13			7		0	0	1	0	0
SLC6A4	6532	broad.mit.edu	37	17	28537538	28537538	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:28537538T>C	uc002hey.4	-	10	1988	c.1444A>G	c.(1444-1446)Act>Gct	p.T482A	SLC6A4_uc010csg.3_Non-coding_Transcript	NM_001045	NP_001036	P31645	SC6A4_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, serotonin), member 4 (SLC6A4), mRNA.	482					response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	Rab GTPase binding|actin filament binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)	CTCACAAAAGTCAGGGTGACC	0.592000														57			5		0	0	1	0	0
TUBB4A	10382	broad.mit.edu	37	19	6495605	6495605	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:6495605G>A	uc002mfg.1	-	3	1012	c.905C>T	c.(904-906)gCg>gTg	p.A302V	TUBB4A_uc002mff.1_Missense_Mutation_p.A230V|JA429441_uc021unq.1_5'Flank	NM_006087	NP_006078	P04350	TBB4_HUMAN	Homo sapiens tubulin, beta 4A class IVa (TUBB4A), mRNA.	302					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity										CGGGTCGCACGCCGCCATCAT	0.687000														47			26		0	0	1	0	0
BNC1	646	broad.mit.edu	37	15	83931981	83931981	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:83931981C>T	uc002bjt.1	-	3	2110	c.2022G>A	c.(2020-2022)ctG>ctA	p.L674L	BNC1_uc010uos.1_Silent_p.L662L	NM_001717	NP_001708	Q01954	BNC1_HUMAN	Homo sapiens basonuclin 1 (BNC1), mRNA.	674					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						GGCGCTGCTGCAGTTCCATGT	0.522000														48			10		0	0	1	0	0
RRP12	23223	broad.mit.edu	37	10	99131923	99131923	+	Splice_Site	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:99131923T>C	uc001knf.3	-	20	2389	c.2250_splice	c.e20-1	p.R750_splice	RRP12_uc009xvl.3_Splice_Site|RRP12_uc009xvm.3_Splice_Site_p.R468_splice|RRP12_uc010qou.2_Splice_Site_p.R689_splice|RRP12_uc009xvn.3_Splice_Site_p.R650_splice	NM_015179	NP_055994	Q5JTH9	RRP12_HUMAN	Homo sapiens ribosomal RNA processing 12 homolog (S. cerevisiae) (RRP12), transcript variant 1, mRNA.	750						integral to membrane|nuclear membrane|nucleolus	protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		GGACAGACAATCTGCTCGGGG	0.592000														10			10		0	0	1	0	0
EIF2AK3	9451	broad.mit.edu	37	2	88874582	88874582	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:88874582C>A	uc002stc.4	-	12	2721	c.2419G>T	c.(2419-2421)Gta>Tta	p.V807L		NM_004836	NP_004827	Q9NZJ5	E2AK3_HUMAN	Homo sapiens eukaryotic translation initiation factor 2-alpha kinase 3 (EIF2AK3), mRNA.	807	Protein kinase.				ER overload response|activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding			ovary(3)	3						TCTTCAAATACTATTGAAGAG	0.413000														115			58		8.72158e-25	1.13991e-24	1	1	0
MYCBP2	23077	broad.mit.edu	37	13	77631174	77631174	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:77631174G>A	uc021rks.1	-	78	13651	c.13384C>T	c.(13384-13386)Cga>Tga	p.R4462*	MYCBP2_uc010aev.3_Nonsense_Mutation_p.R3828*|MYCBP2_uc001vke.3_Nonsense_Mutation_p.R1041*	NM_015057	NP_055872	O75592	MYCB2_HUMAN	Homo sapiens MYC binding protein 2 (MYCBP2), mRNA.	4424					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		CCAAGCCATCGATTTTCTAAT	0.333000														62			46		0	0	1	0	0
SLC1A2	6506	broad.mit.edu	37	11	35314060	35314060	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:35314060G>A	uc001mwd.3	-	6	1457	c.865C>T	c.(865-867)Ccc>Tcc	p.P289S	SLC1A2_uc021qfx.1_Missense_Mutation_p.P280S|SLC1A2_uc001mwe.3_Missense_Mutation_p.P280S|SLC1A2_uc010rev.1_Missense_Mutation_p.P289S	NM_004171	NP_001239581	P43004	EAA2_HUMAN	Homo sapiens solute carrier family 1 (glial high affinity glutamate transporter), member 2 (SLC1A2), transcript variant 1, mRNA.	289				AKLMVDFFNILNEIVMKLVIMIMWYSP -> GQADGGFLQH FERDCNEVSDHDHVVLS (in Ref. 3; CAA83532).	D-aspartate import|L-glutamate import|synaptic transmission	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|urinary_tract(1)	24	all_lung(20;0.211)|all_epithelial(35;0.234)	all_hematologic(20;0.109)	STAD - Stomach adenocarcinoma(6;0.00731)		L-Glutamic Acid(DB00142)	ATACCCAGGGGAGAGTACCTG	0.468000														23			15		0	0	1	0	0
NUP210	23225	broad.mit.edu	37	3	13381787	13381787	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:13381787C>T	uc003bxv.1	-	23	3323	c.3240G>A	c.(3238-3240)ccG>ccA	p.P1080P		NM_024923	NP_079199	Q8TEM1	PO210_HUMAN	Homo sapiens nucleoporin 210kDa (NUP210), mRNA.	1080					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					TCAGCCTGAACGGGGGAAAGA	0.577000														32			5		0	0	1	0	0
MTMR8	55613	broad.mit.edu	37	X	63444766	63444766	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:63444766G>A	uc011mou.2	-	9	1980	c.1890C>T	c.(1888-1890)ctC>ctT	p.L630L	MTMR8_uc004dvq.2_Silent_p.L246L|MTMR8_uc004dvr.2_Silent_p.L255L	NM_017677	NP_060147	Q96EF0	MTMR8_HUMAN	Homo sapiens myotubularin related protein 8 (MTMR8), mRNA.	0						nuclear envelope	protein tyrosine phosphatase activity	p.0?(2)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						GGTCAAGGGAGAGAGATGGAA	0.507000														20			8		0	0	1	0	0
ZNF551	90233	broad.mit.edu	37	19	58264658	58264658	+	Splice_Site	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58264658G>T	uc002qpx.3	+	3	384	c.161_splice	c.e3-1	p.G54_splice	ZNF587_uc002qqb.2_Intron|ZNF551_uc002qqa.3_Splice_Site_p.G54_splice	NM_173632	NP_775903	Q7Z340	ZN551_HUMAN	Homo sapiens zinc finger protein 776 (ZNF776), mRNA.	69	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		ATTTCTTTTAGGTTGTTGGTA	0.408000														106			10		0.000978159	0.00103832	1	1	0
IL17C	27189	broad.mit.edu	37	16	88705694	88705694	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:88705694C>T	uc002fla.3	+	1	361	c.312C>T	c.(310-312)cgC>cgT	p.R104R		NM_013278	NP_037410	Q9P0M4	IL17C_HUMAN	Homo sapiens interleukin 17C (IL17C), mRNA.	104					cell surface receptor linked signaling pathway|cell-cell signaling|inflammatory response	extracellular space|soluble fraction	cytokine activity			large_intestine(1)|lung(1)	2				BRCA - Breast invasive adenocarcinoma(80;0.0477)		CCCACCAGCGCTCCATCTCAC	0.697000														25			3		0	0	1	0	0
TTC12	54970	broad.mit.edu	37	11	113235565	113235565	+	Missense_Mutation	SNP	G	A	A	rs141446456		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:113235565G>A	uc001pnv.3	+	20	1948	c.1843G>A	c.(1843-1845)Gtt>Att	p.V615I	TTC12_uc001pnu.3_Missense_Mutation_p.V609I|TTC12_uc001pnw.3_Non-coding_Transcript|TTC12_uc001pnx.3_Missense_Mutation_p.V459I	NM_017868	NP_060338	Q9H892	TTC12_HUMAN	Homo sapiens tetratricopeptide repeat domain 12 (TTC12), mRNA.	609							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)		AGAGTTGAGCGTTATGATGAA	0.542000														17			16		0	0	1	0	0
THADA	63892	broad.mit.edu	37	2	43800057	43800057	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:43800057G>A	uc002rsw.4	-	11	2156	c.1804C>T	c.(1804-1806)Cga>Tga	p.R602*	THADA_uc010far.3_5'Flank|THADA_uc002rsx.4_Nonsense_Mutation_p.R602*|THADA_uc002rsy.4_Non-coding_Transcript|THADA_uc010fas.1_Non-coding_Transcript|THADA_uc002rsz.3_Nonsense_Mutation_p.R312*|THADA_uc010fat.1_5'Flank|THADA_uc002rta.2_Nonsense_Mutation_p.R312*|THADA_uc002rtb.1_Nonsense_Mutation_p.R602*|THADA_uc002rtc.4_Nonsense_Mutation_p.R602*|THADA_uc002rtd.3_Nonsense_Mutation_p.R602*	NM_001083953	NP_071348	Q6YHU6	THADA_HUMAN	Homo sapiens thyroid adenoma associated (THADA), transcript variant 3, mRNA.	602							binding	p.L601V(1)		breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				CTAGCTATTCGCAGACATGCC	0.458000														31			22		0	0	1	0	0
LYST	1130	broad.mit.edu	37	1	235922652	235922652	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:235922652G>T	uc001hxj.2	-	22	6676	c.6501C>A	c.(6499-6501)agC>agA	p.S2167R	LYST_uc009xgb.1_Non-coding_Transcript|LYST_uc010pxs.1_Non-coding_Transcript	NM_000081	NP_000072	Q99698	LYST_HUMAN	Homo sapiens lysosomal trafficking regulator (LYST), mRNA.	2167					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			CAGACTCACAGCTACTGATGA	0.453000														124			8		5.4927e-09	6.49148e-09	1	1	0
LSS	4047	broad.mit.edu	37	21	47626623	47626623	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:47626623C>T	uc002zij.3	-	15	1606	c.1527G>A	c.(1525-1527)ggG>ggA	p.G509G	LSS_uc002zil.2_Silent_p.G509G|LSS_uc011afv.1_Silent_p.G498G|LSS_uc002zik.2_Silent_p.G429G	NM_001001438	NP_002331	P48449	ERG7_HUMAN	Homo sapiens lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase) (LSS), transcript variant 2, mRNA.	509					cholesterol biosynthetic process	endoplasmic reticulum membrane	lanosterol synthase activity			cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	21	Breast(49;0.214)					CCAGCAAGTGCCCCCCACGCT	0.597000														32			20		0	0	1	0	0
KBTBD7	84078	broad.mit.edu	37	13	41767128	41767128	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:41767128C>T	uc001uxw.1	-	0	1575	c.1266G>A	c.(1264-1266)ttG>ttA	p.L422L	AK056182_uc001uxv.1_Intron	NM_032138	NP_115514	Q8WVZ9	KBTB7_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 7 (KBTBD7), mRNA.	422							protein binding	p.R421H(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)		CACGACACAGCAAGCGATCTG	0.488000														58			7		0	0	1	0	0
HPS5	11234	broad.mit.edu	37	11	18327847	18327847	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:18327847C>T	uc001mod.1	-	6	937	c.659G>A	c.(658-660)gGa>gAa	p.G220E	HPS5_uc001moe.1_Missense_Mutation_p.G106E|HPS5_uc001mof.1_Missense_Mutation_p.G106E	NM_181507	NP_852609	Q9UPZ3	HPS5_HUMAN	Homo sapiens Hermansky-Pudlak syndrome 5 (HPS5), transcript variant 1, mRNA.	220						cytosol				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						GAAACAAGCTCCATATTCTCC	0.403000									Hermansky-Pudlak syndrome					24			17		0	0	1	0	0
SF3B3	23450	broad.mit.edu	37	16	70572290	70572290	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:70572290C>T	uc002ezf.3	+	6	1101	c.890C>T	c.(889-891)tCg>tTg	p.S297L		NM_012426	NP_036558	Q15393	SF3B3_HUMAN	Homo sapiens splicing factor 3b, subunit 3, 130kDa (SF3B3), mRNA.	297					protein complex assembly	U12-type spliceosomal complex|catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex	nucleic acid binding|protein binding			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				AAAACCAAATCGATGTTCTTC	0.388000														82			78		0	0	1	0	0
MICAL2	9645	broad.mit.edu	37	11	12248580	12248580	+	Missense_Mutation	SNP	C	T	T	rs139751583	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:12248580C>T	uc001mjz.3	+	14	2185	c.1897C>T	c.(1897-1899)Cgc>Tgc	p.R633C	MICAL2_uc010rch.1_Missense_Mutation_p.R633C|MICAL2_uc001mka.3_Missense_Mutation_p.R633C|MICAL2_uc010rci.2_Missense_Mutation_p.R633C|MICAL2_uc001mkb.3_Missense_Mutation_p.R633C|MICAL2_uc001mkc.3_Missense_Mutation_p.R633C|MICAL2_uc001mkd.3_Missense_Mutation_p.R462C|MICAL2_uc010rcj.2_Missense_Mutation_p.R35C	NM_014632	NP_055447	O94851	MICA2_HUMAN	Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 2 (MICAL2), mRNA.	633						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		AGATTCTTGGCGCAAAAACTA	0.468000														36			27		0	0	1	0	0
MTMR7	9108	broad.mit.edu	37	8	17170828	17170828	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:17170828T>C	uc003wxm.3	-	7	1187	c.948A>G	c.(946-948)atA>atG	p.I316M	MTMR7_uc003wxn.3_Missense_Mutation_p.I95M	NM_004686	NP_004677	Q9Y216	MTMR7_HUMAN	Homo sapiens myotubularin related protein 7 (MTMR7), mRNA.	316	Myotubularin phosphatase.						protein tyrosine phosphatase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	32				Colorectal(111;0.112)		CTGCATCCATTATGGCTTTAA	0.418000														53			7		0	0	1	0	0
MLL3	58508	broad.mit.edu	37	7	151859837	151859837	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:151859837T>C	uc003wla.3	-	42	11044	c.10825A>G	c.(10825-10827)Aag>Gag	p.K3609E	MLL3_uc003wkz.3_Missense_Mutation_p.K2670E|MLL3_uc003wky.3_Missense_Mutation_p.K1118E	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	3609					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	p.R3606fs*5(1)		NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		cttttcttctttcttgttctt	0.433000			N		medulloblastoma									99			7		0	0	1	0	0
TMEM184B	25829	broad.mit.edu	37	22	38617604	38617604	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:38617604G>A	uc003avf.1	-	8	1320	c.1096C>T	c.(1096-1098)Cag>Tag	p.Q366*	TMEM184B_uc003avh.2_Nonsense_Mutation_p.Q300*|TMEM184B_uc003avg.2_Nonsense_Mutation_p.Q366*|TMEM184B_uc021wpo.1_Non-coding_Transcript	NM_001195071	NP_001182001	Q9Y519	T184B_HUMAN	Homo sapiens transmembrane protein 184B (TMEM184B), transcript variant 2, mRNA.	366				Q -> L (in Ref. 9; BAC11607).		integral to membrane				endometrium(1)|large_intestine(2)|lung(2)|skin(2)|upper_aerodigestive_tract(1)	8	Melanoma(58;0.045)					GTGGACTGCTGCGTGTACTGC	0.642000														25			24		0	0	1	0	0
GFPT1	2673	broad.mit.edu	37	2	69597161	69597161	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:69597161T>G	uc002sfi.2	-	2	378	c.195A>C	c.(193-195)aaA>aaC	p.K65N	GFPT1_uc002sfh.3_Missense_Mutation_p.K65N	NM_001244710	NP_001231639	Q06210	GFPT1_HUMAN	Homo sapiens glutamine--fructose-6-phosphate transaminase 1 (GFPT1), transcript variant 1, mRNA.	65	Glutamine amidotransferase type-2.				UDP-N-acetylglucosamine biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			endometrium(1)|large_intestine(3)|lung(5)|skin(3)	12						GTGCCTTAACTTTTCCTTTCT	0.408000														89			9		0	0	1	0	0
IQGAP1	8826	broad.mit.edu	37	15	91027453	91027453	+	Splice_Site	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:91027453C>T	uc002bpl.1	+	30	3890	c.3789_splice	c.e30-1	p.R1263_splice		NM_003870	NP_003861	P46940	IQGA1_HUMAN	Homo sapiens IQ motif containing GTPase activating protein 1 (IQGAP1), mRNA.	1263	C1.				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	GTPase inhibitor activity|Ras GTPase activator activity|calmodulin binding|protein phosphatase binding	p.R1264W(1)		breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			TTATTTCAGACGGTTTTTCCA	0.428000														121			8		0	0	1	0	0
ARHGEF4	50649	broad.mit.edu	37	2	131803000	131803000	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:131803000G>T	uc002tsa.1	+	12	2421	c.1902G>T	c.(1900-1902)caG>caT	p.Q634H	ARHGEF4_uc010fmw.1_Intron|ARHGEF4_uc002tsb.1_Missense_Mutation_p.Q634H|ARHGEF4_uc010fmx.1_Missense_Mutation_p.Q574H|ARHGEF4_uc002tsc.1_Missense_Mutation_p.Q177H	NM_015320	NP_056135	Q9NR80	ARHG4_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 4 (ARHGEF4), transcript variant 1, mRNA.	634					apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|lamellipodium assembly|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|ruffle membrane	Rac guanyl-nucleotide exchange factor activity|protein domain specific binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4)	29		Prostate(154;0.055)		BRCA - Breast invasive adenocarcinoma(221;0.097)		GCAAGCAGCAGGTCACAGGGA	0.612000														33			4		0.000602214	0.000641151	1	1	0
CADPS2	93664	broad.mit.edu	37	7	122047655	122047655	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:122047655C>T	uc022akp.1	-	18	3107	c.2685G>A	c.(2683-2685)ccG>ccA	p.P895P	CADPS2_uc003vkg.4_Silent_p.P589P|CADPS2_uc022akq.1_3'UTR|CADPS2_uc010lkq.3_Silent_p.P889P|CADPS2_uc022akr.1_Silent_p.P895P	NM_001167940	NP_001161412	Q86UW7	CAPS2_HUMAN	Homo sapiens Ca++-dependent secretion activator 2 (CADPS2), transcript variant 3, mRNA.	895	Interaction with DRD2.|MHD1.				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						AGGAGTCTTGCGGTTGAGCCT	0.428000														21			3		0	0	1	0	0
TOP2B	7155	broad.mit.edu	37	3	25665884	25665884	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:25665884T>C	uc011awn.1	-	19	2442	c.2399A>G	c.(2398-2400)aAc>aGc	p.N800S	TOP2B_uc003cdj.2_Missense_Mutation_p.N795S|TOP2B_uc021wug.1_Missense_Mutation_p.N795S	NM_001068	NP_001059	Q02880	TOP2B_HUMAN	Homo sapiens topoisomerase (DNA) II beta 180kDa (TOP2B), mRNA.	800					DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation	DNA topoisomerase complex (ATP-hydrolyzing)|WINAC complex|cytosol|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|chromatin binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36						GTTAATGTTGTTACTTCCCAC	0.373000														64			48		0	0	1	0	0
SRP68	6730	broad.mit.edu	37	17	74066475	74066475	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:74066475C>A	uc002jqk.1	-	1	270	c.235G>T	c.(235-237)Gat>Tat	p.D79Y	SRP68_uc010wsu.1_Intron|SRP68_uc002jql.1_Missense_Mutation_p.D79Y	NM_014230	NP_055045	Q9UHB9	SRP68_HUMAN	Homo sapiens signal recognition particle 68kDa (SRP68), mRNA.	79					response to drug	cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting	RNA binding|signal recognition particle binding			NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3)	23						CTCTGAAAATCTCCATGCCGT	0.373000														22			5		0.00198382	0.00208369	1	1	0
AXIN1	8312	broad.mit.edu	37	16	343713	343713	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:343713G>A	uc002cgp.2	-	7	2350	c.1961C>T	c.(1960-1962)tCg>tTg	p.S654L	LUC7L_uc021szo.1_Intron|AXIN1_uc002cgq.2_Missense_Mutation_p.S654L	NM_003502	NP_003493	O15169	AXIN1_HUMAN	Homo sapiens axin 1 (AXIN1), transcript variant 1, mRNA.	654	Interaction with PPP2CA.|Interaction with RNF111.				Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis|activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	GTPase activator activity|I-SMAD binding|armadillo repeat domain binding|beta-catenin binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				CCTCGTCCCCGAAGACCTTGG	0.637000														53			48		0	0	1	0	0
COL5A1	1289	broad.mit.edu	37	9	137591761	137591761	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:137591761C>T	uc004cfe.3	+	2	666	c.284C>T	c.(283-285)gCa>gTa	p.A95V		NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	95	Laminin G-like.|TSP N-terminal.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CCAGCGTCTGCATTTCCCGAG	0.577000														31			24		0	0	1	0	0
SUSD2	56241	broad.mit.edu	37	22	24583574	24583574	+	Missense_Mutation	SNP	G	A	A	rs114116915	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:24583574G>A	uc002zzn.1	+	11	1971	c.1927G>A	c.(1927-1929)Gat>Aat	p.D643N		NM_019601	NP_062547	Q9UGT4	SUSD2_HUMAN	Homo sapiens sushi domain containing 2 (SUSD2), mRNA.	643	VWFD.				immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						GCTCACCTACGATTCCTGGTT	0.632000														26			22		0	0	1	0	0
UBQLN1	29979	broad.mit.edu	37	9	86297963	86297963	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:86297963A>G	uc004amv.3	-	2	925	c.351T>C	c.(349-351)gcT>gcC	p.A117A	UBQLN1_uc004amw.3_Silent_p.A117A	NM_013438	NP_038466	Q9UMX0	UBQL1_HUMAN	Homo sapiens ubiquilin 1 (UBQLN1), transcript variant 1, mRNA.	117					apoptosis|regulation of protein ubiquitination|response to hypoxia	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm|proteasome complex	kinase binding			breast(4)|endometrium(2)|kidney(4)|large_intestine(6)|lung(10)|prostate(1)	27						TTGTTTGCTGAGCTGAATGAT	0.408000														74			6		0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48684218	48684218	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:48684218G>T	uc003toq.2	+	60	14973	c.14949G>T	c.(14947-14949)caG>caT	p.Q4983H	ABCA13_uc010kys.1_Missense_Mutation_p.Q2058H|ABCA13_uc010kyt.1_Non-coding_Transcript|ABCA13_uc010kyu.1_Missense_Mutation_p.Q713H	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	4983					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TTTAGGGACAGCACCTGAATT	0.279000														10			15		2.31682e-05	2.55671e-05	1	1	0
LRFN5	145581	broad.mit.edu	37	14	42356643	42356643	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:42356643G>A	uc001wvm.3	+	2	2013	c.815G>A	c.(814-816)cGc>cAc	p.R272H	LRFN5_uc010ana.3_Missense_Mutation_p.R272H	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 5 (LRFN5), mRNA.	272	LRRCT.					integral to membrane		p.G271C(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		TTAACTGGCCGCTACTTTTGG	0.468000										HNSCC(30;0.082)				67			50		0	0	1	0	0
C3	718	broad.mit.edu	37	19	6686756	6686756	+	Splice_Site	SNP	C	T	T	rs113847049		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:6686756C>T	uc002mfm.3	-	28	3708	c.3646_splice	c.e28+1	p.D1216_splice		NM_000064	NP_000055	P01024	CO3_HUMAN	Homo sapiens complement component 3 (C3), mRNA.	1216			D -> N (in C3S).		G-protein coupled receptor protein signaling pathway|complement activation, alternative pathway|complement activation, classical pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		CCAACCCTCACCTTTGGCTGT	0.552000														175			99		0	0	1	0	0
ACE2	59272	broad.mit.edu	37	X	15618961	15618961	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:15618961G>A	uc004cxa.1	-	0	242	c.74C>T	c.(73-75)gCc>gTc	p.A25V	ACE2_uc004cxb.2_Missense_Mutation_p.A25V	NM_021804	NP_068576	Q9BYF1	ACE2_HUMAN	Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 2 (ACE2), mRNA.	25					angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor	cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane	carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32	Hepatocellular(33;0.183)				Moexipril(DB00691)	AAATGTCTTGGCCTGTTCCTC	0.453000														58			37		0	0	1	0	0
ITPR2	3709	broad.mit.edu	37	12	26628240	26628240	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:26628240G>T	uc001rhg.3	-	44	6748	c.6331C>A	c.(6331-6333)Ctg>Atg	p.L2111M	ITPR2_uc009zjg.1_Missense_Mutation_p.L262M	NM_002223	NP_002214	Q14571	ITPR2_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 2 (ITPR2), mRNA.	2111					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					TGATGGGCCAGAATATAGATA	0.393000														34			17		5.35267e-07	6.12308e-07	1	1	0
C11orf70	85016	broad.mit.edu	37	11	101953841	101953841	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:101953841G>A	uc001pgp.3	+	6	748	c.715G>A	c.(715-717)Gaa>Aaa	p.E239K	C11orf70_uc001pgq.3_Missense_Mutation_p.E201K	NM_032930	NP_116319	Q9BRQ4	CK070_HUMAN	Homo sapiens chromosome 11 open reading frame 70 (C11orf70), transcript variant 1, mRNA.	239										breast(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|skin(2)	12	all_epithelial(12;0.0137)	Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.0137)	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0335)		AAAGAATCATGAACAGACATT	0.308000														85			37		0	0	1	0	0
KBTBD10	10324	broad.mit.edu	37	2	170374879	170374879	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:170374879C>T	uc002ueu.1	+	3	1633	c.1556C>T	c.(1555-1557)aCa>aTa	p.T519I	KBTBD10_uc010zdh.1_Missense_Mutation_p.T457I	NM_006063	NP_006054	O60662	KBTBA_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 10 (KBTBD10), mRNA.	519					striated muscle contraction	centrosome|nucleolus|plasma membrane|pseudopodium|ruffle		p.T518S(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|urinary_tract(1)	19						GACCTTACAACAAATAAGTGA	0.353000														39			23		0	0	1	0	0
SNRNP70	6625	broad.mit.edu	37	19	49593547	49593547	+	Splice_Site	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:49593547G>T	uc002pmk.3	+	3	587	c.148_splice	c.e3-1	p.D50_splice	SNRNP70_uc002pmh.2_Splice_Site|SNRNP70_uc002pmm.3_Splice_Site	NM_003089	NP_003080	P08621	RU17_HUMAN	Homo sapiens small nuclear ribonucleoprotein 70kDa (U1) (SNRNP70), mRNA.	50					nuclear mRNA splicing, via spliceosome|regulation of RNA splicing	nucleoplasm|spliceosomal complex	RNA binding|nucleotide binding|protein binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|skin(2)	12						CTTGTTCCCAGGACCCTCGAG	0.552000														22			17		2.4624e-09	2.92908e-09	1	1	0
AMIGO1	57463	broad.mit.edu	37	1	110050380	110050380	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:110050380G>A	uc021org.1	-	0	1155	c.1155C>T	c.(1153-1155)gtC>gtT	p.V385V	AMIGO1_uc001dxx.4_Silent_p.V385V	NM_020703	NP_065754	Q86WK6	AMGO1_HUMAN	Homo sapiens adhesion molecule with Ig-like domain 1 (AMIGO1), mRNA.	385					axonal fasciculation|heterophilic cell-cell adhesion|homophilic cell adhesion|myelination|positive regulation of axonogenesis	axon|integral to membrane				autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Colorectal(144;0.0129)|Lung(183;0.0182)|Epithelial(280;0.046)|all cancers(265;0.0492)|READ - Rectum adenocarcinoma(129;0.0689)|LUSC - Lung squamous cell carcinoma(189;0.227)		TGAGGACCAGGACCACACTAA	0.537000														27			39		0	0	1	0	0
RSF1	51773	broad.mit.edu	37	11	77383090	77383090	+	Nonsense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:77383090C>A	uc001oyn.3	-	14	3868	c.3748G>T	c.(3748-3750)Gaa>Taa	p.E1250*	RSF1_uc001oym.3_Nonsense_Mutation_p.E998*	NM_016578	NP_057662	Q96T23	RSF1_HUMAN	Homo sapiens remodeling and spacing factor 1 (RSF1), mRNA.	1250					CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			GCCTTACCTTCACTCTCTGAG	0.413000														97			66		8.3131e-28	1.09326e-27	1	1	0
TAZ	6901	broad.mit.edu	37	X	153648575	153648575	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153648575G>A	uc010nuy.3	+	7	683	c.683G>A	c.(682-684)aGt>aAt	p.S228N	TAZ_uc004fkx.3_Missense_Mutation_p.S224N|TAZ_uc004fky.3_Missense_Mutation_p.S210N|TAZ_uc004fkz.3_Non-coding_Transcript|TAZ_uc004fla.3_Missense_Mutation_p.S194N|TAZ_uc004flb.3_Missense_Mutation_p.S180N|TAZ_uc004flc.4_Missense_Mutation_p.S194N	NM_181312	NP_851829	Q16635	TAZ_HUMAN	Homo sapiens tafazzin (TAZ), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	224					cardiac muscle contraction|cardiac muscle tissue development|cardiolipin biosynthetic process|cristae formation|hemopoiesis|mitochondrial ATP synthesis coupled electron transport|mitochondrial respiratory chain complex I assembly|skeletal muscle tissue development	integral to membrane|mitochondrion	1-acylglycerophosphocholine O-acyltransferase activity			lung(1)	1	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTTCCTAACAGTCCGCCCTAC	0.627000														218			28		0	0	1	0	0
KIAA1109	84162	broad.mit.edu	37	4	123161240	123161240	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:123161240C>T	uc003ieh.3	+	26	4448	c.4403C>T	c.(4402-4404)gCg>gTg	p.A1468V	KIAA1109_uc003iei.1_Missense_Mutation_p.A1221V|KIAA1109_uc010ins.1_Missense_Mutation_p.A811V|KIAA1109_uc003iek.2_Missense_Mutation_p.A87V	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	Homo sapiens KIAA1109 (KIAA1109), mRNA.	1468					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TTTGTTTCTGCGTTAGGTGGA	0.423000														68			5		0	0	1	0	0
BICD2	23299	broad.mit.edu	37	9	95481641	95481641	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:95481641A>G	uc004asp.1	-	4	1343	c.1286T>C	c.(1285-1287)aTc>aCc	p.I429T	BICD2_uc004aso.1_Missense_Mutation_p.I429T	NM_001003800	NP_001003800	Q8TD16	BICD2_HUMAN	Homo sapiens bicaudal D homolog 2 (Drosophila) (BICD2), transcript variant 1, mRNA.	429					microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	Golgi apparatus|cytoplasmic vesicle|cytoskeleton|plasma membrane	Rab GTPase binding			cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						AGGCCCGTTGATGTCCACCTC	0.647000														29			13		0	0	1	0	0
MBD2	8932	broad.mit.edu	37	18	51715253	51715253	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:51715253C>A	uc002lfg.2	-	2	1060	c.831G>T	c.(829-831)caG>caT	p.Q277H		NM_003927	NP_003918	Q9UBB5	MBD2_HUMAN	Homo sapiens methyl-CpG binding domain protein 2 (MBD2), transcript variant 1, mRNA.	277					transcription, DNA-dependent		C2H2 zinc finger domain binding|methyl-CpG binding|satellite DNA binding			breast(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	8				Colorectal(16;0.0212)|READ - Rectum adenocarcinoma(32;0.188)	Hexobarbital(DB01355)	CCTGACGTGGCTGTTCATTCA	0.333000														153			10		3.07112e-06	3.45634e-06	1	1	0
MUC5B	727897	broad.mit.edu	37	11	1155535	1155535	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:1155535G>T	uc021qbr.1	+	3	270	c.223G>T	c.(223-225)Gcg>Tcg	p.A75S				Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	71					cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	p.R75R(1)		cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CTCCAACCCGGCGCACAACGG	0.672000														10			4		1.23904e-05	1.3743e-05	1	1	0
ARRB1	408	broad.mit.edu	37	11	74992172	74992172	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:74992172G>T	uc001owe.2	-	6	653	c.429C>A	c.(427-429)gaC>gaA	p.D143E	ARRB1_uc001owf.2_Missense_Mutation_p.D143E	NM_004041	NP_004032	P49407	ARRB1_HUMAN	Homo sapiens arrestin, beta 1 (ARRB1), transcript variant 1, mRNA.	143	Interaction with SRC (By similarity).				G-protein coupled receptor internalization|histone H4 acetylation|negative regulation of NF-kappaB transcription factor activity|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|positive regulation of Rho protein signal transduction|positive regulation of histone acetylation|positive regulation of transcription from RNA polymerase II promoter|post-Golgi vesicle-mediated transport|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|signal transduction|stress fiber assembly|transcription from RNA polymerase II promoter	Golgi membrane|chromatin|coated pit|cytoplasmic vesicle membrane|cytosol|lysosomal membrane|membrane fraction|nucleus|plasma membrane|pseudopodium|soluble fraction	GTPase activator activity|angiotensin receptor binding|enzyme inhibitor activity|insulin-like growth factor receptor binding|transcription factor binding|transcription regulatory region DNA binding|ubiquitin protein ligase binding			breast(4)|large_intestine(2)|lung(4)|prostate(1)	11						TGACTTCATAGTCCACACCGC	0.587000														4			3		0.004672	0.00486265	1	1	0
AASDH	132949	broad.mit.edu	37	4	57215453	57215453	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:57215453T>C	uc003hbn.3	-	10	2617	c.2464A>G	c.(2464-2466)Aag>Gag	p.K822E	AASDH_uc010ihb.3_Missense_Mutation_p.K337E|AASDH_uc003hbo.3_Missense_Mutation_p.K722E|AASDH_uc011caa.2_Missense_Mutation_p.K669E|AASDH_uc011cab.2_Missense_Mutation_p.K337E|AASDH_uc010ihc.3_Missense_Mutation_p.K822E|AASDH_uc003hbp.3_Missense_Mutation_p.K822E	NM_181806	NP_861522	Q4L235	ACSF4_HUMAN	Homo sapiens aminoadipate-semialdehyde dehydrogenase (AASDH), mRNA.	822					fatty acid metabolic process		ATP binding|acid-thiol ligase activity|acyl carrier activity|cofactor binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				TTTCCACACTTAGATACACAT	0.358000														92			9		0	0	1	0	0
GEMIN4	50628	broad.mit.edu	37	17	649630	649630	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:649630G>A	uc002frs.1	-	1	1772	c.1653C>T	c.(1651-1653)cgC>cgT	p.R551R		NM_015721	NP_056536	P57678	GEMI4_HUMAN	Homo sapiens gem (nuclear organelle) associated protein 4 (GEMIN4), mRNA.	551					rRNA processing|spliceosomal snRNP assembly	Cajal body|cytosol|nucleolus|small nuclear ribonucleoprotein complex|spliceosomal complex	protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		CTATGACCAGGCGGGCCACGG	0.552000														41			8		0	0	1	0	0
MTFR1	9650	broad.mit.edu	37	8	66605934	66605934	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:66605934C>T	uc011lep.2	+	3	433	c.221C>T	c.(220-222)gCg>gTg	p.A74V	MTFR1_uc003xvm.2_Missense_Mutation_p.A74V|MTFR1_uc003xvn.2_Missense_Mutation_p.A41V	NM_001145839	NP_001139311	Q15390	MTFR1_HUMAN	Homo sapiens mitochondrial fission regulator 1 (MTFR1), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	74						mitochondrion|plasma membrane				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|pancreas(1)|urinary_tract(1)	11			Epithelial(68;0.0526)|BRCA - Breast invasive adenocarcinoma(89;0.156)|all cancers(69;0.171)|OV - Ovarian serous cystadenocarcinoma(28;0.194)			GATGCAGTGGCGTCTTTTGCT	0.448000														20			6		0	0	1	0	0
ZNF574	64763	broad.mit.edu	37	19	42584573	42584573	+	Nonsense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:42584573C>A	uc002osk.4	+	1	2320	c.2085C>A	c.(2083-2085)taC>taA	p.Y695*	ZNF574_uc002osm.4_Nonsense_Mutation_p.Y605*|ZNF574_uc021uva.1_Nonsense_Mutation_p.Y605*	NM_022752	NP_073589	Q6ZN55	ZN574_HUMAN	Homo sapiens zinc finger protein 574 (ZNF574), mRNA.	605	Ala-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20		Prostate(69;0.059)				CAGGTGAATACCCCTACAAGT	0.647000														30			18		3.41278e-10	4.10877e-10	1	1	0
ADAMTS15	170689	broad.mit.edu	37	11	130331475	130331475	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:130331475A>G	uc010scd.2	+	1	1049	c.1049A>G	c.(1048-1050)gAc>gGc	p.D350G		NM_139055	NP_620686	Q8TE58	ATS15_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 15 (ADAMTS15), mRNA.	350	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		GTCATTGAGGACGATGGGCTT	0.607000														38			31		0	0	1	0	0
TPPP	11076	broad.mit.edu	37	5	678081	678081	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:678081G>A	uc003jbg.4	-	0	813	c.95C>T	c.(94-96)tCg>tTg	p.S32L	TPPP_uc003jbh.4_Missense_Mutation_p.S32L	NM_007030	NP_008961	O94811	TPPP_HUMAN	Homo sapiens tubulin polymerization promoting protein (TPPP), mRNA.	32	Mediates interaction with LIMK1.				microtubule bundle formation|microtubule polymerization|positive regulation of protein polymerization	nucleus|perinuclear region of cytoplasm|soluble fraction	calcium ion binding|microtubule binding			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5		Ovarian(839;0.0563)	Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)	GBM - Glioblastoma multiforme(108;0.0191)		CGATTCCAGCGACAGCCTCTT	0.687000														5			5		0	0	1	0	0
CALD1	800	broad.mit.edu	37	7	134618001	134618001	+	Missense_Mutation	SNP	G	A	A	rs145963001		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:134618001G>A	uc003vrz.3	+	4	947	c.481G>A	c.(481-483)Gag>Aag	p.E161K	CALD1_uc003vry.3_Missense_Mutation_p.E161K|CALD1_uc003vsb.3_Missense_Mutation_p.E161K|CALD1_uc011kpt.2_5'UTR|CALD1_uc010lmm.3_Missense_Mutation_p.E161K|CALD1_uc003vsc.3_Missense_Mutation_p.E155K|CALD1_uc003vsd.3_Missense_Mutation_p.E155K|CALD1_uc011kpu.2_Missense_Mutation_p.E166K|CALD1_uc011kpv.2_Missense_Mutation_p.E25K|CALD1_uc003vse.3_Missense_Mutation_p.E25K	NM_033138	NP_149129	Q05682	CALD1_HUMAN	Homo sapiens caldesmon 1 (CALD1), transcript variant 1, mRNA.	161	Myosin and calmodulin-binding (By similarity).				cellular component movement|muscle contraction	cytosol|focal adhesion|myofibril	actin binding|calmodulin binding|myosin binding|tropomyosin binding			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						AGAAAGATACGAGATAGAGGA	0.428000														18			8		0	0	1	0	0
FSTL4	23105	broad.mit.edu	37	5	132534815	132534815	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:132534815G>A	uc003kyn.1	-	15	2719	c.2501C>T	c.(2500-2502)aCc>aTc	p.T834I	FSTL4_uc003kym.1_Missense_Mutation_p.T483I	NM_015082	NP_055897	Q6MZW2	FSTL4_HUMAN	Homo sapiens follistatin-like 4 (FSTL4), mRNA.	834						extracellular region	calcium ion binding	p.T834fs*>9(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CACCACTGTGGTCCCCCCCTT	0.582000														11			12		0	0	1	0	0
NBPF1	55672	broad.mit.edu	37	1	16901708	16901708	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:16901708G>A	uc009vos.1	-	19	3024	c.2136C>T	c.(2134-2136)gaC>gaT	p.D712D	NBPF1_uc009vot.1_Silent_p.D170D|NBPF1_uc001ayz.1_Silent_p.D170D|NBPF1_uc010oce.1_Silent_p.D441D	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 1 (NBPF1), mRNA.	712	NBPF 3.		H -> D (in dbSNP:rs3901680).			cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		CATCTTCATCGTCATCGTTGT	0.433000														437			27		0	0	1	0	0
SYT14	255928	broad.mit.edu	37	1	210273780	210273780	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:210273780A>G	uc001hhs.4	+	6	1331	c.1273A>G	c.(1273-1275)Ata>Gta	p.I425V	SYT14_uc001hht.4_Missense_Mutation_p.I380V|SYT14_uc010psn.2_Missense_Mutation_p.I425V|SYT14_uc001hhu.4_Intron|SYT14_uc010pso.2_Missense_Mutation_p.I342V|SYT14_uc009xcv.3_Missense_Mutation_p.I380V	NM_001146261	NP_001139733	Q8NB59	SYT14_HUMAN	Homo sapiens synaptotagmin XIV (SYT14), transcript variant 1, mRNA.	380	C2 2.					integral to membrane				endometrium(4)|large_intestine(11)|lung(17)|ovary(1)|prostate(1)|skin(3)	37				OV - Ovarian serous cystadenocarcinoma(81;0.085)		ATTGCCTGTGATATTGGAACC	0.313000														47			23		0	0	1	0	0
TOPORS	10210	broad.mit.edu	37	9	32541485	32541485	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:32541485C>A	uc003zrb.3	-	2	3230	c.3038G>T	c.(3037-3039)aGt>aTt	p.S1013I	TOPORS_uc003zrc.3_Missense_Mutation_p.S948I	NM_005802	NP_001182551	Q9NS56	TOPRS_HUMAN	Homo sapiens topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase (TOPORS), transcript variant 1, mRNA.	1013					DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	PML body|nuclear speck	DNA binding|DNA topoisomerase I binding|SUMO ligase activity|antigen binding|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		CACAATGTTACTGGGCTGGTT	0.418000														115			9		0.00448238	0.0046769	1	1	0
PDZRN3	23024	broad.mit.edu	37	3	73651590	73651590	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:73651590C>T	uc003dpl.1	-	2	929	c.833G>A	c.(832-834)aGt>aAt	p.S278N		NM_015009	NP_055824	Q9UPQ7	PZRN3_HUMAN	Homo sapiens PDZ domain containing ring finger 3 (PDZRN3), mRNA.	278	PDZ 1.						ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		GATTCCTTCACTGGATGATCC	0.408000														151			10		0	0	1	0	0
SEMA4G	57715	broad.mit.edu	37	10	102743539	102743539	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:102743539C>A	uc001krw.2	+	13	2567	c.2183C>A	c.(2182-2184)tCt>tAt	p.S728Y	SEMA4G_uc001krv.3_Non-coding_Transcript|SEMA4G_uc001krx.3_Intron|MRPL43_uc001kry.1_Missense_Mutation_p.Q167H|MRPL43_uc010qpu.1_Missense_Mutation_p.D210Y|MRPL43_uc001krz.1_Non-coding_Transcript|MRPL43_uc001ksa.1_Missense_Mutation_p.D210Y|MRPL43_uc001ksb.1_Missense_Mutation_p.Q167H	NM_017893	NP_060363	Q9NTN9	SEM4G_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G (SEMA4G), transcript variant 1, mRNA.	723					cell differentiation|nervous system development	integral to membrane	receptor activity			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Colorectal(252;0.234)		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)		GCAGGAGGATCTGCGGTGCAA	0.642000														7			4		0.150653	0.152248	1	1	0
SLC18A2	6571	broad.mit.edu	37	10	119015149	119015149	+	Silent	SNP	G	A	A	rs149854149	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:119015149G>A	uc001ldd.2	+	8	1039	c.876G>A	c.(874-876)ccG>ccA	p.P292P	SLC18A2_uc009xyy.2_Silent_p.P89P	NM_003054	NP_003045	Q05940	VMAT2_HUMAN	Homo sapiens solute carrier family 18 (vesicular monoamine), member 2 (SLC18A2), mRNA.	292					neurotransmitter secretion	clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction	monoamine transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29		Colorectal(252;0.19)		all cancers(201;0.029)	Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844)	TGAAGGACCCGTACATCCTCA	0.617000														21			13		0	0	1	0	0
LRRC4C	57689	broad.mit.edu	37	11	40137065	40137065	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:40137065G>A	uc021qgf.1	-	0	778	c.778C>T	c.(778-780)Cgg>Tgg	p.R260W	LRRC4C_uc001mxc.1_Missense_Mutation_p.R256W|LRRC4C_uc001mxd.1_Missense_Mutation_p.R256W|LRRC4C_uc001mxa.1_Missense_Mutation_p.R260W|LRRC4C_uc001mxb.1_Missense_Mutation_p.R256W	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN	Homo sapiens leucine rich repeat containing 4C (LRRC4C), mRNA.	260					regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				AAGGCATTCCGTTCAATCACT	0.448000														62			47		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179474164	179474164	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179474164C>A	uc021vsy.1	-	221	44394	c.44169G>T	c.(44167-44169)gaG>gaT	p.E14723D	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E8418D|TTN_uc021vta.1_Missense_Mutation_p.E8351D|TTN_uc021vtb.1_Missense_Mutation_p.E8226D	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	15650	Fibronectin type-III 6.						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)			TCTTAATTTCCTCTGGTACAA	0.413000														36			11		6.40141e-05	6.99953e-05	1	1	0
PTK6	5753	broad.mit.edu	37	20	62168629	62168629	+	Nonsense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:62168629A>C	uc002yfg.3	-	0	79	c.39T>G	c.(37-39)taT>taG	p.Y13*	PTK6_uc011aay.2_5'UTR|PTK6_uc011aba.2_Nonsense_Mutation_p.Y13*	NM_005975	NP_005966	Q13882	PTK6_HUMAN	Homo sapiens PTK6 protein tyrosine kinase 6 (PTK6), transcript variant 1, mRNA.	13	SH3.					cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			endometrium(3)|kidney(1)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	15	all_cancers(38;2.51e-11)		Epithelial(9;1.5e-08)|all cancers(9;8.67e-08)|BRCA - Breast invasive adenocarcinoma(10;6.43e-06)			AGAGGCCCACATACTTGGGGC	0.701000														3			2		0	0	1	0	0
PTPRO	5800	broad.mit.edu	37	12	15668485	15668485	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:15668485G>T	uc001rcv.2	+	7	1988	c.1518G>T	c.(1516-1518)caG>caT	p.Q506H	PTPRO_uc001rcw.2_Missense_Mutation_p.Q506H|PTPRO_uc001rcu.2_Missense_Mutation_p.Q506H	NM_030667	NP_109592	Q16827	PTPRO_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, O (PTPRO), transcript variant 1, mRNA.	506	Fibronectin type-III 5.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				CCCAGTACCAGGTTGTAATAT	0.413000														83			9		5.4927e-09	6.49148e-09	1	1	0
SSPO	23145	broad.mit.edu	37	7	149519666	149519666	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:149519666C>T	uc010lpk.3	+	90	13147	c.13147C>T	c.(13147-13149)Cgc>Tgc	p.R4383C	SSPO_uc010lpm.1_Intron|SSPO_uc003wgg.2_Intron|SSPO_uc003wgh.2_Non-coding_Transcript|SSPO_uc003wgi.1_Intron	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	4386	TSP type-1 22.				cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GGTGCAGCAGCGCTACCGACA	0.697000														6			13		0	0	1	0	0
CSTF3	1479	broad.mit.edu	37	11	33163271	33163271	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:33163271C>T	uc001muh.3	-	2	333	c.167G>A	c.(166-168)cGc>cAc	p.R56H	CSTF3_uc001mui.3_Missense_Mutation_p.R56H|CSTF3_uc001muj.3_3'UTR	NM_001326	NP_001317	Q12996	CSTF3_HUMAN	Homo sapiens cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kDa (CSTF3), transcript variant 1, mRNA.	56					mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	RNA binding|protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|stomach(1)	19						GGCAACAAGGCGTTCATAAGT	0.343000														23			14		0	0	1	0	0
RBM15	64783	broad.mit.edu	37	1	110883957	110883957	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:110883957C>A	uc001dzl.1	+	0	2013	c.1930C>A	c.(1930-1932)Ctg>Atg	p.L644M	RBM15_uc001dzm.1_Missense_Mutation_p.L644M|LOC440600_uc001dzj.3_5'Flank|RBM15_uc021orn.1_Missense_Mutation_p.L644M	NM_022768	NP_073605	Q96T37	RBM15_HUMAN	Homo sapiens RNA binding motif protein 15 (RBM15), transcript variant 1, mRNA.	644	Arg-rich.				interspecies interaction between organisms	nucleus	RNA binding|nucleotide binding|protein binding			ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		GAAGCGAAGGCTGCCTGAGGA	0.587000			T	MKL1	acute megakaryocytic leukemia									22			9		0.00448238	0.0046769	1	1	0
ORC1	4998	broad.mit.edu	37	1	52861730	52861730	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:52861730G>A	uc001ctt.3	-	4	940	c.709C>T	c.(709-711)Ctg>Ttg	p.L237L	ORC1_uc010oni.2_Silent_p.L237L|ORC1_uc001ctu.3_Silent_p.L237L	NM_004153	NP_004144	Q13415	ORC1_HUMAN	Homo sapiens origin recognition complex, subunit 1 (ORC1), transcript variant 1, mRNA.	237					DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol|nuclear origin of replication recognition complex|nucleolus|nucleoplasm|plasma membrane	ATP binding|DNA binding|nucleoside-triphosphatase activity|protein binding			breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						CCAAGCTCCAGCCTCTTTCTG	0.468000														29			17		0	0	1	0	0
SVIL	6840	broad.mit.edu	37	10	29818634	29818634	+	Splice_Site	SNP	G	A	A	rs146446036	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:29818634G>A	uc001iut.1	-	12	2999	c.2246_splice	c.e12+1	p.T749_splice	SVIL_uc001iuu.1_Splice_Site_p.T355_splice	NM_021738	NP_068506	O95425	SVIL_HUMAN	Homo sapiens supervillin (SVIL), transcript variant 2, mRNA.	749					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				GGGCACTTACGTGGCTGCGAT	0.493000														28			6		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9086385	9086385	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9086385T>C	uc002mkp.3	-	0	5634	c.5430A>G	c.(5428-5430)aaA>aaG	p.K1810K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	1810	Ser-rich.|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						CAGTTCTGAGTTTTTCTTTTC	0.463000														53			37		0	0	1	0	0
RAPGEF3	10411	broad.mit.edu	37	12	48141499	48141499	+	Missense_Mutation	SNP	A	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:48141499A>T	uc001rpz.4	-	13	2019	c.1469T>A	c.(1468-1470)cTc>cAc	p.L490H	RAPGEF3_uc001rpx.3_5'Flank|RAPGEF3_uc010sln.2_Missense_Mutation_p.L12H|RAPGEF3_uc001rpy.3_Non-coding_Transcript|RAPGEF3_uc009zkp.3_Missense_Mutation_p.L448H|RAPGEF3_uc009zkq.3_Missense_Mutation_p.L448H|RAPGEF3_uc001rqa.3_Missense_Mutation_p.L12H	NM_001098531	NP_006096	A8K2G5	A8K2G5_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 3 (RAPGEF3), transcript variant 1, mRNA.	448					regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex	cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.0375)		AGGTACCTGGAGGAAGCTGGT	0.597000														38			4		0	0	1	0	0
FRZB	2487	broad.mit.edu	37	2	183699582	183699582	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:183699582G>A	uc002upa.2	-	5	1190	c.972C>T	c.(970-972)cgC>cgT	p.R324R		NM_001463	NP_001454	Q92765	SFRP3_HUMAN	Homo sapiens frizzled-related protein (FRZB), mRNA.	324			R -> G (in hip OA susceptibility; has diminished ability to antagonize Wnt signaling, in vitro; dbSNP:rs7775).		Wnt receptor signaling pathway|brain development|cochlea morphogenesis|gonad development|mammary gland involution|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of hepatocyte differentiation|positive regulation of apoptosis|positive regulation of fat cell differentiation|skeletal system development|vasculature development	cytoplasm|extracellular space|membrane	PDZ domain binding|Wnt receptor activity|Wnt-protein binding	p.R324R(2)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(117;0.109)|Epithelial(96;0.231)			GGATTTAGTTGCGTGCTTGCC	0.428000														37			18		0	0	1	0	0
PTPRA	5786	broad.mit.edu	37	20	3018748	3018748	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:3018748A>G	uc010zqd.2	+	22	2728	c.2411A>G	c.(2410-2412)gAt>gGt	p.D804G	PTPRA_uc002whj.3_Missense_Mutation_p.D793G|PTPRA_uc002whk.3_Missense_Mutation_p.D784G|PTPRA_uc002whl.3_Missense_Mutation_p.D784G|PTPRA_uc002whm.3_Missense_Mutation_p.D560G|PTPRA_uc002whn.3_Missense_Mutation_p.D784G|PTPRA_uc002who.3_Missense_Mutation_p.D456G	NM_002836	NP_002827	P18433	PTPRA_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, A (PTPRA), transcript variant 1, mRNA.	793					axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						GAGTATATTGATGCATTCTCA	0.413000														37			9		0	0	1	0	0
IRX1	79192	broad.mit.edu	37	5	3596444	3596444	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:3596444C>A	uc003jde.3	+	0	277	c.225C>A	c.(223-225)aaC>aaA	p.N75K		NM_024337	NP_077313	P78414	IRX1_HUMAN	Homo sapiens iroquois homeobox 1 (IRX1), mRNA.	75						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						GCGCGCCCAACTACAGCGCCT	0.746000														7			4		0.150653	0.152248	1	1	0
ITGA2	3673	broad.mit.edu	37	5	52337985	52337985	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:52337985A>G	uc003joy.3	+	2	372	c.229A>G	c.(229-231)Atg>Gtg	p.M77V	ITGA2_uc011cqa.2_Non-coding_Transcript|ITGA2_uc011cqb.2_Non-coding_Transcript|ITGA2_uc011cqc.2_Missense_Mutation_p.M1V|ITGA2_uc011cqd.2_Non-coding_Transcript|ITGA2_uc011cqe.2_Non-coding_Transcript	NM_002203	NP_002194	P17301	ITA2_HUMAN	Homo sapiens integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor) (ITGA2), mRNA.	77					axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				TGAGAACCGAATGGGAGATGT	0.353000														65			34		0	0	1	0	0
VAV3	10451	broad.mit.edu	37	1	108116774	108116774	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:108116774G>T	uc001dvk.1	-	25	2451	c.2397C>A	c.(2395-2397)ttC>ttA	p.F799L	VAV3_uc010ouu.1_Missense_Mutation_p.F231L|VAV3_uc001dvj.1_Missense_Mutation_p.F239L|VAV3_uc010ouv.1_Missense_Mutation_p.F203L|VAV3_uc010ouw.1_Missense_Mutation_p.F827L	NM_006113	NP_006104	Q9UKW4	VAV3_HUMAN	Homo sapiens vav 3 guanine nucleotide exchange factor (VAV3), transcript variant 1, mRNA.	799	SH3 2.				B cell receptor signaling pathway|angiogenesis|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|SH3/SH2 adaptor activity|metal ion binding			NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		CTCTTGCACAGAAGTCATACC	0.428000														141			13		1.05317e-09	1.25904e-09	1	1	0
PLA2G4E	123745	broad.mit.edu	37	15	42300022	42300022	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:42300022C>T	uc021sjp.1	-	2	298	c.298G>A	c.(298-300)Gcc>Acc	p.A100T		NM_001206670	NP_001193599	Q3MJ16	PA24E_HUMAN	Homo sapiens phospholipase A2, group IVE (PLA2G4E), mRNA.	82	C2.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1)	16		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)		TTCTGAGAGGCGGTGGGCAGC	0.502000														7			4		0	0	1	0	0
ADAMTS3	9508	broad.mit.edu	37	4	73179425	73179425	+	Missense_Mutation	SNP	G	A	A	rs150168072		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:73179425G>A	uc003hgk.2	-	11	1751	c.1714C>T	c.(1714-1716)Cgt>Tgt	p.R572C	ADAMTS3_uc003hgl.3_5'Flank	NM_014243	NP_055058	O15072	ATS3_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 3 (ADAMTS3), mRNA.	572	TSP type-1 1.				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GTTCTGAAACGAACACCAGTT	0.393000														29			19		0	0	1	0	0
GPR139	124274	broad.mit.edu	37	16	20043451	20043451	+	Missense_Mutation	SNP	G	A	A	rs144787739	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:20043451G>A	uc002dgu.1	-	1	830	c.668C>T	c.(667-669)aCg>aTg	p.T223M	GPR139_uc010vaw.1_Missense_Mutation_p.T130M	NM_001002911	NP_001002911	Q6DWJ6	GP139_HUMAN	Homo sapiens G protein-coupled receptor 139 (GPR139), mRNA.	223						integral to membrane|plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						GGTCTTCCCCGTGGAGTAGCC	0.527000														34			25		0	0	1	0	0
DGKB	1607	broad.mit.edu	37	7	14722263	14722263	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:14722263C>T	uc003ssz.3	-	10	1137	c.950G>A	c.(949-951)tGc>tAc	p.C317Y	DGKB_uc011jxt.2_Missense_Mutation_p.C310Y|DGKB_uc003sta.3_Missense_Mutation_p.C317Y|DGKB_uc011jxu.2_Missense_Mutation_p.C317Y	NM_004080	NP_004071	Q9Y6T7	DGKB_HUMAN	Homo sapiens diacylglycerol kinase, beta 90kDa (DGKB), transcript variant 1, mRNA.	317					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	CTTGGTTGGGCAGTTACCTTC	0.433000														94			41		0	0	1	0	0
KIAA0226	9711	broad.mit.edu	37	3	197444953	197444953	+	Silent	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:197444953A>C	uc003fyc.2	-	1	297	c.114T>G	c.(112-114)ggT>ggG	p.G38G	KIAA0226_uc003fyd.3_5'UTR|KIAA0226_uc003fyf.3_Intron|KIAA0226_uc003fyg.3_Silent_p.G31G	NM_014687	NP_055502	Q92622	RUBIC_HUMAN	Homo sapiens KIAA0226 (KIAA0226), transcript variant 2, mRNA.	38					autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding			NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		TTGATACCAAACCCTCCACCG	0.522000														37			13		0	0	1	0	0
ZDBF2	57683	broad.mit.edu	37	2	207173681	207173681	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:207173681G>A	uc002vbp.2	+	4	4679	c.4429G>A	c.(4429-4431)Gac>Aac	p.D1477N		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA.	1477							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						CAAAGAGGCAGACCTTCAGAA	0.373000														13			8		0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123970727	123970727	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:123970727G>A	uc001lfv.3	+	8	7147	c.6787G>A	c.(6787-6789)Gta>Ata	p.V2263I	TACC2_uc001lfw.3_Missense_Mutation_p.V409I|TACC2_uc009xzx.3_Missense_Mutation_p.V2218I|TACC2_uc010qtv.2_Missense_Mutation_p.V2267I|TACC2_uc001lfx.3_5'UTR|TACC2_uc001lfy.3_5'UTR|TACC2_uc001lfz.3_Missense_Mutation_p.V341I|TACC2_uc001lga.3_Missense_Mutation_p.V341I|TACC2_uc009xzy.3_Missense_Mutation_p.V341I|TACC2_uc001lgb.3_Missense_Mutation_p.V298I|TACC2_uc010qtw.1_Missense_Mutation_p.V358I	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	2263						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				AGGGCTCTCCGTAAGGCTGGA	0.567000														18			15		0	0	1	0	0
PDK3	5165	broad.mit.edu	37	X	24512864	24512864	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:24512864G>T	uc004dbg.3	+	1	341	c.112G>T	c.(112-114)Gat>Tat	p.D38Y	PDK3_uc004dbh.3_Missense_Mutation_p.D38Y	NM_005391	NP_005382	Q15120	PDK3_HUMAN	Homo sapiens pyruvate dehydrogenase kinase, isozyme 3 (PDK3), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	38					glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	ATP binding|protein binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity			NS(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						AATAGGGAGAGATAATGCATG	0.388000														45			5		0.00116845	0.00123466	1	1	0
LDOC1L	84247	broad.mit.edu	37	22	44892773	44892773	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:44892773C>T	uc003beu.1	-	1	1001	c.664G>A	c.(664-666)Gct>Act	p.A222T	LDOC1L_uc021wrd.1_Missense_Mutation_p.A222T	NM_032287	NP_115663	Q6ICC9	LDOCL_HUMAN	Homo sapiens leucine zipper, down-regulated in cancer 1-like (LDOC1L), mRNA.	222										breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(3)|prostate(2)	11		Ovarian(80;0.024)|all_neural(38;0.0416)		LUAD - Lung adenocarcinoma(64;0.0161)		CCGTTGGAAGCTGGATGCACT	0.617000														47			28		0	0	1	0	0
SPRYD4	283377	broad.mit.edu	37	12	56863244	56863244	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56863244G>T	uc001sli.4	+	1	582	c.507G>T	c.(505-507)caG>caT	p.Q169H	SPRYD4_uc010sqo.1_Missense_Mutation_p.Q157H	NM_207344	NP_997227	Q8WW59	SPRY4_HUMAN	Homo sapiens SPRY domain containing 4 (SPRYD4), mRNA.	169	B30.2/SPRY.					nucleus				kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)	7						ATGTGAGCCAGGTCTCTGTGG	0.592000														49			20		6.33239e-15	7.95586e-15	1	1	0
ALDH18A1	5832	broad.mit.edu	37	10	97366614	97366614	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:97366614G>A	uc001kkz.3	-	17	2535	c.2293C>T	c.(2293-2295)Cga>Tga	p.R765*	ALDH18A1_uc001kky.3_Nonsense_Mutation_p.R763*|ALDH18A1_uc010qog.2_Nonsense_Mutation_p.R654*|ALDH18A1_uc010qoh.2_Nonsense_Mutation_p.R553*	NM_002860	NP_002851	P54886	P5CS_HUMAN	Homo sapiens aldehyde dehydrogenase 18 family, member A1 (ALDH18A1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	765	Gamma-glutamyl phosphate reductase.				proline biosynthetic process	mitochondrial inner membrane	ATP binding|glutamate 5-kinase activity|glutamate-5-semialdehyde dehydrogenase activity	p.R765*(2)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(9)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Colorectal(252;0.0402)		Epithelial(162;9.1e-07)|all cancers(201;2.55e-05)	L-Glutamic Acid(DB00142)	TCCTTCCCTCGCAGCAGCCAC	0.478000														92			71		0	0	1	0	0
TIMM10	26519	broad.mit.edu	37	11	57296339	57296339	+	Nonsense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:57296339C>A	uc001nkm.1	-	2	271	c.124G>T	c.(124-126)Gag>Tag	p.E42*		NM_012456	NP_036588	P62072	TIM10_HUMAN	Homo sapiens translocase of inner mitochondrial membrane 10 homolog (yeast) (TIMM10), nuclear gene encoding mitochondrial protein, mRNA.	42					protein import into mitochondrial inner membrane|sensory perception of sound|transmembrane transport	mitochondrial inner membrane presequence translocase complex|mitochondrial intermembrane space protein transporter complex	zinc ion binding			cervix(1)|large_intestine(2)	3						TTGGAGAGCTCTGCTTCCTTG	0.552000														29			8		0.307466	0.308579	1	1	0
HKR1	284459	broad.mit.edu	37	19	37854500	37854500	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:37854500C>T	uc002ogb.3	+	5	2072	c.1803C>T	c.(1801-1803)caC>caT	p.H601H	HKR1_uc002ofx.3_Silent_p.H317H|HKR1_uc002ofy.3_Silent_p.H317H|HKR1_uc002oga.3_Silent_p.H583H|HKR1_uc010xto.2_Silent_p.H583H|HKR1_uc002ogc.3_Silent_p.H582H|HKR1_uc010xtp.2_Silent_p.H540H|HKR1_uc002ogd.3_Silent_p.H540H	NM_181786	NP_861451	P10072	HKR1_HUMAN	Homo sapiens HKR1, GLI-Kruppel zinc finger family member (HKR1), mRNA.	601					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AGAGAGCACACGCAGGGGGGA	0.532000														39			24		0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110456104	110456104	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:110456104C>A	uc003yne.3	+	36	4868	c.4764C>A	c.(4762-4764)ggC>ggA	p.G1588G		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	1588	IPT/TIG 8.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TTGGACATGGCTTTAGTAATC	0.328000										HNSCC(38;0.096)				40			22		5.45024e-15	6.85306e-15	1	1	0
RIN1	9610	broad.mit.edu	37	11	66102523	66102523	+	Silent	SNP	C	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:66102523C>G	uc001ohn.1	-	5	874	c.747G>C	c.(745-747)gtG>gtC	p.V249V	RIN1_uc010roy.1_5'UTR|RIN1_uc009yrd.1_5'UTR|RIN1_uc010roz.1_Silent_p.V144V|RIN1_uc010rpa.1_Silent_p.V144V	NM_004292	NP_004283	Q13671	RIN1_HUMAN	Homo sapiens Ras and Rab interactor 1 (RIN1), mRNA.	249					endocytosis|signal transduction	cytoplasm|cytoskeleton|plasma membrane	GTPase activator activity|protein binding	p.V249M(1)		breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(1)	14						TCTCTGTGGACACGCGCACTT	0.672000														38			20		0	0	1	0	0
FZD7	8324	broad.mit.edu	37	2	202900121	202900121	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:202900121C>T	uc002uyw.1	+	0	812	c.751C>T	c.(751-753)Cgc>Tgc	p.R251C		NM_003507	NP_003498	O75084	FZD7_HUMAN	Homo sapiens frizzled family receptor 7 (FZD7), mRNA.	251					G-protein signaling, coupled to cGMP nucleotide second messenger|Wnt receptor signaling pathway, calcium modulating pathway|axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|gonad development|mesenchymal to epithelial transition|negative regulation of cell-substrate adhesion|negative regulation of ectodermal cell fate specification|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent|regulation of catenin import into nucleus|vasculature development	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|endometrium(6)|large_intestine(6)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	31						GGAGGAGAGGCGCTTCGCCCG	0.657000											OREG0015146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		34			33		0	0	1	0	0
PROX2	283571	broad.mit.edu	37	14	75329615	75329615	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:75329615C>T	uc021rwo.1	-	0	923	c.923G>A	c.(922-924)cGt>cAt	p.R308H	PROX2_uc001xqp.2_Missense_Mutation_p.R308H|PROX2_uc001xqq.2_Intron	NM_001080408	NP_001229936	Q3B8N5	PROX2_HUMAN	Homo sapiens prospero homeobox 2 (PROX2), transcript variant 2, mRNA.	308					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			kidney(1)|large_intestine(2)|lung(3)	6			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00652)		AGAATCTAGACGCTTGGCCAG	0.552000														58			43		0	0	1	0	0
SLC25A14	9016	broad.mit.edu	37	X	129480618	129480618	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:129480618G>A	uc004evr.1	+	2	433	c.261G>A	c.(259-261)gcG>gcA	p.A87A	SLC25A14_uc010nrg.3_Silent_p.A87A|SLC25A14_uc011mut.2_Silent_p.A55A|SLC25A14_uc011muu.2_Silent_p.A90A|SLC25A14_uc004evp.1_Silent_p.A90A|SLC25A14_uc004evq.1_Silent_p.A87A	NM_022810	NP_073721	O95258	UCP5_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier, brain), member 14 (SLC25A14), nuclear gene encoding mitochondrial protein, transcript variant short, mRNA.	90					aerobic respiration|mitochondrial transport	integral to plasma membrane|mitochondrial inner membrane	binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)	22						TGTTCCATGCGCTGTTTCGCA	0.423000														85			49		0	0	1	0	0
UPF1	5976	broad.mit.edu	37	19	18965817	18965817	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:18965817G>A	uc002nkg.3	+	9	1703	c.1428G>A	c.(1426-1428)gcG>gcA	p.A476A	UPF1_uc002nkf.3_Silent_p.A465A	NM_002911	NP_002902	Q92900	RENT1_HUMAN	Homo sapiens UPF1 regulator of nonsense transcripts homolog (yeast) (UPF1), mRNA.	476					DNA repair|DNA replication|cell cycle|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|DNA binding|RNA binding|chromatin binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						GCTTCACGGCGCAGGGCCTCC	0.672000														40			17		0	0	1	0	0
SHPRH	257218	broad.mit.edu	37	6	146266768	146266768	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:146266768G>A	uc003qlf.3	-	7	1726	c.1327C>T	c.(1327-1329)Cgt>Tgt	p.R443C	SHPRH_uc003qle.3_Missense_Mutation_p.R443C|SHPRH_uc003qlg.1_5'UTR|SHPRH_uc003qlj.1_Missense_Mutation_p.R332C	NM_001042683	NP_001036148	Q149N8	SHPRH_HUMAN	Homo sapiens SNF2 histone linker PHD RING helicase (SHPRH), transcript variant 1, mRNA.	443	H15.				DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		ATCATCACACGTGTAGCTAAA	0.313000														19			11		0	0	1	0	0
P4HA1	5033	broad.mit.edu	37	10	74806697	74806697	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:74806697G>T	uc021ptk.1	-	6	1095	c.1063C>A	c.(1063-1065)Cta>Ata	p.L355I	P4HA1_uc010qka.2_Missense_Mutation_p.L355I|P4HA1_uc001jth.3_Missense_Mutation_p.L355I|P4HA1_uc001jtg.3_Missense_Mutation_p.L355I|P4HA1_uc010qkb.2_Missense_Mutation_p.L355I|P4HA1_uc021ptj.1_Missense_Mutation_p.L355I	NM_001142595	NP_001136067	P13674	P4HA1_HUMAN	Homo sapiens prolyl 4-hydroxylase, alpha polypeptide I (P4HA1), transcript variant 3, mRNA.	355						endoplasmic reticulum lumen|mitochondrion	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15	Prostate(51;0.0198)				Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	GGTTTTGCTAGGTCTTTGACG	0.333000														63			22		1.55795e-14	1.95195e-14	1	1	0
MARCH10	162333	broad.mit.edu	37	17	60865889	60865889	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:60865889C>A	uc010dds.3	-	2	447	c.162G>T	c.(160-162)gaG>gaT	p.E54D	MARCH10_uc010ddr.3_Missense_Mutation_p.E54D|MARCH10_uc002jag.4_Missense_Mutation_p.E54D|MARCH10_uc002jah.2_Missense_Mutation_p.E54D	NM_152598	NP_689811	Q8NA82	MARHA_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 10 (MARCH10), transcript variant 1, mRNA.	54							ligase activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						CAAAACTTGTCTCTTGCCCCC	0.463000														57			6		2.7689e-08	3.24273e-08	1	1	0
DSP	1832	broad.mit.edu	37	6	7581571	7581571	+	Missense_Mutation	SNP	G	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:7581571G>C	uc003mxp.1	+	22	5427	c.5148G>C	c.(5146-5148)gaG>gaC	p.E1716D	DSP_uc003mxq.1_Intron|DSP_uc021yle.1_Intron	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	1716	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)		TGACCAAGGAGCACTTGATGT	0.453000														65			33		0	0	1	0	0
MFSD2B	388931	broad.mit.edu	37	2	24247137	24247137	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:24247137C>T	uc002reo.2	+	12	1500	c.1486C>T	c.(1486-1488)Cgg>Tgg	p.R496W		NM_001080473	NP_001073942	A6NFX1	MFS2B_HUMAN	Homo sapiens major facilitator superfamily domain containing 2B (MFSD2B), mRNA.	496					transport	integral to membrane				cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10						GCTGAGCCTTCGGAGGTAAGC	0.652000														4			5		0	0	1	0	0
PLEKHH2	130271	broad.mit.edu	37	2	43927114	43927114	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:43927114G>A	uc010yny.2	+	7	1100	c.1017G>A	c.(1015-1017)gaG>gaA	p.E339E	PLEKHH2_uc002rte.3_Silent_p.E339E|PLEKHH2_uc002rtf.3_Silent_p.E338E	NM_172069	NP_742066	Q8IVE3	PKHH2_HUMAN	Homo sapiens pleckstrin homology domain containing, family H (with MyTH4 domain) member 2 (PLEKHH2), mRNA.	339						cytoplasm|cytoskeleton|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TTGAGGAAGAGACTTTTGGCA	0.453000														25			16		0	0	1	0	0
ZNF808	388558	broad.mit.edu	37	19	53050821	53050821	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:53050821C>A	uc010epq.1	+	3	297	c.120C>A	c.(118-120)ttC>ttA	p.F40L	ZNF808_uc002pzq.2_Intron	NM_001039886	NP_001034975	Q8N4W9	ZN808_HUMAN	Homo sapiens zinc finger protein 808 (ZNF808), mRNA.	40	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		AGTGGAAATTCCTGAACCCTG	0.453000														107			54		1.38909e-20	1.79427e-20	1	1	0
CANT1	124583	broad.mit.edu	37	17	76989898	76989898	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:76989898G>A	uc002jwj.3	-	3	1435	c.940C>T	c.(940-942)Cgc>Tgc	p.R314C	CANT1_uc002jwn.3_Missense_Mutation_p.R314C|CANT1_uc002jwk.3_Missense_Mutation_p.R314C|CANT1_uc002jwl.2_Intron	NM_138793	NP_620148	Q8WVQ1	CANT1_HUMAN	Homo sapiens calcium activated nucleotidase 1 (CANT1), transcript variant 1, mRNA.	314					positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi cisterna membrane|endoplasmic reticulum membrane|integral to membrane	calcium ion binding|nucleoside-diphosphatase activity|signal transducer activity		CANT1/ETV4(3)	cervix(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			GCGCCCTTGCGCTCGTCGTCC	0.672000			T	ETV4	prostate									11			12		0	0	1	0	0
ST8SIA2	8128	broad.mit.edu	37	15	93007423	93007423	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:93007423C>T	uc002bra.3	+	5	1091	c.936C>T	c.(934-936)ctC>ctT	p.L312L	ST8SIA2_uc002brb.3_Silent_p.L291L	NM_006011	NP_006002	Q92186	SIA8B_HUMAN	Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2 (ST8SIA2), mRNA.	312					N-glycan processing|axon guidance|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1)	20	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)			AAATCTACCTCTACGGCTTCT	0.522000														13			8		0	0	1	0	0
ATP11A	23250	broad.mit.edu	37	13	113514618	113514618	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:113514618G>A	uc001vsj.4	+	23	2833	c.2745G>A	c.(2743-2745)gcG>gcA	p.A915A	ATP11A_uc001vsi.4_Silent_p.A915A|ATP11A_uc001vsm.1_Silent_p.A791A|ATP11A_uc010ago.3_Intron	NM_032189	NP_115565	P98196	AT11A_HUMAN	Homo sapiens ATPase, class VI, type 11A (ATP11A), transcript variant 2, mRNA.	915					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				ACGACACCGCGTATCTGACCC	0.453000														82			13		0	0	1	0	0
HTT	3064	broad.mit.edu	37	4	3174046	3174046	+	Splice_Site	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:3174046G>T	uc021xkv.1	+	30	4010	c.3865_splice	c.e30-1	p.C1289_splice		NM_002111	NP_002102	P42858	HD_HUMAN	Homo sapiens huntingtin (HTT), mRNA.	1289					Golgi organization|establishment of mitotic spindle orientation|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	Golgi apparatus|autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		TCTTTCTACAGTGTGTTGAAG	0.383000														119			11		2.27111e-07	2.61452e-07	1	1	0
TNRC18	84629	broad.mit.edu	37	7	5347924	5347924	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:5347924G>A	uc003soi.4	-	29	9069	c.8720C>T	c.(8719-8721)tCg>tTg	p.S2907L		NM_001080495	NP_001073964	O15417	TNC18_HUMAN	Homo sapiens trinucleotide repeat containing 18 (TNRC18), mRNA.	2907	BAH.						DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		GTCCACATGCGAGGACTGGTA	0.627000														6			14		0	0	1	0	0
DLEC1	9940	broad.mit.edu	37	3	38158080	38158080	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:38158080G>T	uc003chp.1	+	27	4014	c.3993G>T	c.(3991-3993)gaG>gaT	p.E1331D	DLEC1_uc003cho.1_Missense_Mutation_p.E1331D|DLEC1_uc010hgv.1_Missense_Mutation_p.E1334D|DLEC1_uc003chr.1_Missense_Mutation_p.E402D|DLEC1_uc010hgx.1_Non-coding_Transcript|DLEC1_uc003chs.1_5'Flank	NM_007337	NP_031363	Q9Y238	DLEC1_HUMAN	Homo sapiens deleted in lung and esophageal cancer 1 (DLEC1), transcript variant DLEC1-S3, mRNA.	1331					negative regulation of cell proliferation	cytoplasm		p.E1331K(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		ATACCCCTGAGGGTGGCTGCC	0.622000														73			8		0.00307968	0.00322291	1	1	0
NFKBIE	4794	broad.mit.edu	37	6	44227997	44227997	+	Missense_Mutation	SNP	G	A	A	rs145497659		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:44227997G>A	uc003oxe.1	-	4	1245	c.1220C>T	c.(1219-1221)gCg>gTg	p.A407V	SLC35B2_uc003oxd.3_5'Flank|SLC35B2_uc011dvt.2_5'Flank|SLC35B2_uc011dvu.2_5'Flank	NM_004556	NP_004547	O00221	IKBE_HUMAN	Homo sapiens nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, epsilon (NFKBIE), mRNA.	407					cytoplasmic sequestering of transcription factor		protein binding			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|urinary_tract(1)	10	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CAGGTGCAGCGCTGTCTTACC	0.617000														33			23		0	0	1	0	0
EMX2	2018	broad.mit.edu	37	10	119305195	119305195	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:119305195G>A	uc001ldh.4	+	1	1282	c.459G>A	c.(457-459)aaG>aaA	p.K153K	EMX2OS_uc001ldg.3_5'Flank|EMX2_uc001ldi.4_Intron	NM_004098	NP_004089	Q04743	EMX2_HUMAN	Homo sapiens empty spiracles homeobox 2 (EMX2), transcript variant 1, mRNA.	153						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.R152Q(1)		endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(2)	12		Colorectal(252;0.109)|Lung NSC(174;0.179)|all_lung(145;0.22)		all cancers(201;0.0133)		TGGCCCGAAAGCCCAAGCGGA	0.607000														21			5		0	0	1	0	0
PICALM	8301	broad.mit.edu	37	11	85693047	85693047	+	Splice_Site	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:85693047C>A	uc001pbm.3	-	15	1834	c.1517_splice	c.e15-1	p.G506_splice	PICALM_uc001pbl.3_Splice_Site_p.G456_splice|PICALM_uc001pbn.3_Splice_Site_p.G499_splice|PICALM_uc010rtl.2_Splice_Site_p.G405_splice|PICALM_uc001pbk.3_5'Flank|PICALM_uc010rtk.2_Intron|PICALM_uc001pbo.1_Splice_Site_p.G138_splice	NM_007166	NP_009097	Q13492	PICAL_HUMAN	Homo sapiens phosphatidylinositol binding clathrin assembly protein (PICALM), transcript variant 1, mRNA.	506					clathrin coat assembly|endosome transport|negative regulation of receptor-mediated endocytosis|positive regulation of transcription, DNA-dependent|receptor internalization|regulation of protein localization	Golgi apparatus|clathrin coat|clathrin-coated vesicle|coated pit|nucleus|postsynaptic membrane|presynaptic membrane	1-phosphatidylinositol binding|clathrin heavy chain binding			endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19		Acute lymphoblastic leukemia(157;7.42e-07)|all_hematologic(158;0.00092)				TCATCAAAGCCTTAAAGTTAC	0.408000			T	"""MLLT10, MLL"""	"""TALL, AML, """									74			9		1.76689e-08	2.07166e-08	1	1	0
CCDC116	164592	broad.mit.edu	37	22	21988801	21988801	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:21988801G>T	uc002zve.3	+	2	656	c.563G>T	c.(562-564)aGg>aTg	p.R188M	CCDC116_uc011aih.1_Missense_Mutation_p.R188M	NM_152612	NP_689825	Q8IYX3	CC116_HUMAN	Homo sapiens coiled-coil domain containing 116 (CCDC116), mRNA.	188										endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(5)	22	Colorectal(54;0.105)					CCACCTGTGAGGGACAAACTC	0.627000														44			6		3.59834e-05	3.95114e-05	1	1	0
DDX46	9879	broad.mit.edu	37	5	134124246	134124246	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:134124246C>A	uc003kzw.3	+	11	1676	c.1508C>A	c.(1507-1509)cCt>cAt	p.P503H	DDX46_uc003kzv.1_Non-coding_Transcript	NM_014829	NP_055644	Q7L014	DDX46_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 46 (DDX46), mRNA.	503	Helicase ATP-binding.				RNA splicing|mRNA processing	Cajal body|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding			NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GTTTGCACACCTGGTCGAATG	0.308000														129			14		1.05317e-09	1.25904e-09	1	1	0
NUDT22	84304	broad.mit.edu	37	11	63994254	63994254	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:63994254A>G	uc001nyp.4	+	1	310	c.130A>G	c.(130-132)Atc>Gtc	p.I44V	TRPT1_uc010rnc.2_5'Flank|TRPT1_uc010rnd.2_5'Flank|TRPT1_uc001nyo.3_5'Flank|TRPT1_uc010rnf.2_5'Flank|TRPT1_uc010rne.2_5'Flank|TRPT1_uc001nyn.3_5'Flank|NUDT22_uc009ypd.3_Missense_Mutation_p.I44V|NUDT22_uc009ype.3_Missense_Mutation_p.I44V|NUDT22_uc001nyq.4_Missense_Mutation_p.I44V|NUDT22_uc010rng.2_5'Flank	NM_032344	NP_115720	Q9BRQ3	NUD22_HUMAN	Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 22 (NUDT22), transcript variant 1, mRNA.	44							hydrolase activity			breast(1)|endometrium(1)|large_intestine(2)|lung(4)	8						CATCACTGCCATCTGGGAGAC	0.697000														53			14		0	0	1	0	0
KCTD16	57528	broad.mit.edu	37	5	143853619	143853619	+	Missense_Mutation	SNP	G	A	A	rs147890155		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:143853619G>A	uc003lnm.1	+	3	1858	c.1229G>A	c.(1228-1230)cGg>cAg	p.R410Q	KCTD16_uc003lnn.1_Missense_Mutation_p.R410Q	NM_020768	NP_065819	Q68DU8	KCD16_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 16 (KCTD16), mRNA.	410						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	21		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			ATTCCAGATCGGTTTCCTGAG	0.383000														78			38		0	0	1	0	0
TONSL	4796	broad.mit.edu	37	8	145659531	145659531	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:145659531G>A	uc011llg.2	-	20	3232	c.3217C>T	c.(3217-3219)Cgg>Tgg	p.R1073W	AK298596_uc011llh.1_5'Flank	NM_013432	NP_038460	Q96HA7	TONSL_HUMAN	Homo sapiens tonsoku-like, DNA repair protein (TONSL), mRNA.	1073					cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing	cytoplasm|nuclear replication fork	histone binding|transcription corepressor activity			biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						CGCAGCTCCCGGAGTGCTGTG	0.697000														12			3		0	0	1	0	0
MDN1	23195	broad.mit.edu	37	6	90394655	90394655	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:90394655G>T	uc003pnn.1	-	70	11885	c.11769C>A	c.(11767-11769)ttC>ttA	p.F3923L		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	Homo sapiens MDN1, midasin homolog (yeast) (MDN1), mRNA.	3923					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CCCGGTCAAAGAATTGCTTGT	0.403000														22			19		1.01871e-10	1.23424e-10	1	1	0
CERS6	253782	broad.mit.edu	37	2	169551472	169551472	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:169551472C>T	uc002uec.1	+	5	644	c.520C>T	c.(520-522)Ctc>Ttc	p.L174F	CERS6_uc002ueb.1_Missense_Mutation_p.L174F	NM_203463	NP_982288	Q6ZMG9	CERS6_HUMAN	Homo sapiens ceramide synthase 6 (CERS6), transcript variant 2, mRNA.	174	TLC.					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity										CCTTCAGCCACTCACAACTGA	0.388000														103			6		0	0	1	0	0
SMARCC1	6599	broad.mit.edu	37	3	47663813	47663813	+	Nonsense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:47663813C>A	uc003crq.2	-	24	2783	c.2665G>T	c.(2665-2667)Gaa>Taa	p.E889*	SMARCC1_uc011bbc.1_Non-coding_Transcript|SMARCC1_uc011bbd.1_Nonsense_Mutation_p.E780*	NM_003074	NP_003065	Q92922	SMRC1_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1 (SMARCC1), mRNA.	889					chromatin remodeling|nervous system development|transcription, DNA-dependent	SWI/SNF complex|WINAC complex|nBAF complex|npBAF complex|nucleoplasm	DNA binding|protein N-terminus binding|transcription coactivator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		ATCTTTCTTTCTTCCACTGCA	0.373000														87			58		2.66076e-39	3.53513e-39	1	1	0
PLIN4	729359	broad.mit.edu	37	19	4510834	4510834	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:4510834G>A	uc002mar.1	-	2	3096	c.3096C>T	c.(3094-3096)caC>caT	p.H1032H	PLIN4_uc010dub.1_Silent_p.H56H	NM_001080400	NP_001073869	Q96Q06	PLIN4_HUMAN	Homo sapiens perilipin 4 (PLIN4), mRNA.	1032						lipid particle|plasma membrane				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						TGAGGCCAGTGTGGGTGGCCC	0.632000														68			11		0	0	1	0	0
TPTE2P3	220115	broad.mit.edu	37	13	53106800	53106800	+	RNA	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:53106800G>A	uc001vgw.3	+	14		c.1600G>A								Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 pseudogene 3 (TPTE2P3), non-coding RNA.																		AGAACGTATTGTCGCTATGTC	0.308000														12			4		0	0	1	0	0
ZBTB47	92999	broad.mit.edu	37	3	42701050	42701050	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:42701050G>A	uc003clu.2	+	1	1484	c.1203G>A	c.(1201-1203)ggG>ggA	p.G401G		NM_145166	NP_660149	Q9UFB7	ZBT47_HUMAN	Homo sapiens zinc finger and BTB domain containing 47 (ZBTB47), mRNA.	25					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(3)|ovary(1)	13				KIRC - Kidney renal clear cell carcinoma(284;0.216)		GGCGGGGTGGGAAGAGGCCAA	0.706000														8			5		0	0	1	0	0
FAM189B	10712	broad.mit.edu	37	1	155218211	155218211	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155218211A>G	uc001fjm.3	-	9	2170	c.1564T>C	c.(1564-1566)Tcc>Ccc	p.S522P	FAM189B_uc009wql.3_Missense_Mutation_p.S324P|FAM189B_uc001fjn.3_Missense_Mutation_p.S426P|FAM189B_uc001fjo.3_Missense_Mutation_p.S504P|FAM189B_uc001fjp.3_Non-coding_Transcript	NM_006589	NP_006580	P81408	F189B_HUMAN	Homo sapiens family with sequence similarity 189, member B (FAM189B), transcript variant 1, mRNA.	522						integral to membrane	WW domain binding			breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23						TCTGCAGAGGAAACAGAAGCA	0.532000														25			20		0	0	1	0	0
AGAP11	119385	broad.mit.edu	37	10	88768928	88768928	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:88768928C>A	uc001kee.2	+	11	2123	c.919C>A	c.(919-921)Ctg>Atg	p.L307M	AGAP11_uc001kef.3_Intron	NM_133447	NP_597704	Q8TF27	AGA11_HUMAN	Homo sapiens ankyrin repeat and GTPase domain Arf GTPase activating protein 11 (AGAP11), mRNA.	307	PH.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding										GAGCCAGATCCTGGCCAGCCT	0.557000														136			9		1.12685e-05	1.25391e-05	1	1	0
PRKCH	5583	broad.mit.edu	37	14	61952287	61952287	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:61952287G>A	uc001xfn.3	+	9	1651	c.1346G>A	c.(1345-1347)cGt>cAt	p.R449H	PRKCH_uc010tsa.2_Missense_Mutation_p.R288H|PRKCH_uc010tsb.2_Missense_Mutation_p.R17H	NM_006255	NP_006246	P24723	KPCL_HUMAN	Homo sapiens protein kinase C, eta (PRKCH), mRNA.	449	Protein kinase.				intracellular signal transduction|platelet activation	cytosol|plasma membrane	ATP binding|enzyme binding|metal ion binding|protein kinase C activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25				OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)		CAGAAGTCTCGTCGTTTTGAT	0.443000														136			94		0	0	1	0	0
PIK3AP1	118788	broad.mit.edu	37	10	98386590	98386590	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:98386590G>A	uc001kmq.3	-	9	1672	c.1544C>T	c.(1543-1545)aCg>aTg	p.T515M	PIK3AP1_uc001kmo.3_Missense_Mutation_p.T114M|PIK3AP1_uc001kmp.3_Missense_Mutation_p.T337M	NM_152309	NP_689522	Q6ZUJ8	BCAP_HUMAN	Homo sapiens phosphoinositide-3-kinase adaptor protein 1 (PIK3AP1), mRNA.	515						cytoplasm|plasma membrane				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		GTCATCCACCGTGTGATAAAC	0.547000														68			6		0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113529312	113529312	+	Silent	SNP	A	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:113529312A>T	uc003ynu.3	-	27	4866	c.4707T>A	c.(4705-4707)atT>atA	p.I1569I	CSMD3_uc003yns.3_Silent_p.I841I|CSMD3_uc003ynt.3_Silent_p.I1529I|CSMD3_uc011lhx.2_Silent_p.I1465I	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	1569	Sushi 8.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TTTCTACCTGAATGCAGGTTA	0.393000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				79			11		0	0	1	0	0
NIF3L1	60491	broad.mit.edu	37	2	201756936	201756936	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:201756936C>A	uc002uwp.2	+	0	1008	c.270C>A	c.(268-270)ctC>ctA	p.L90L	NIF3L1_uc002uwm.2_Silent_p.L90L|NIF3L1_uc002uwl.2_Silent_p.L63L|NIF3L1_uc002uwn.2_Silent_p.L63L|NIF3L1_uc002uwq.2_Silent_p.L90L	NM_021824	NP_068596	Q9GZT8	NIF3L_HUMAN	Homo sapiens NIF3 NGG1 interacting factor 3-like 1 (S. cerevisiae) (NIF3L1), transcript variant 2, mRNA.	90					positive regulation of transcription, DNA-dependent		transcription factor binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(2)	13						ACCTCATTCTCTCCTACCATC	0.522000														111			7		1	1	1	1	0
UBR1	197131	broad.mit.edu	37	15	43308006	43308006	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:43308006C>T	uc001zqq.3	-	28	3155	c.3089G>A	c.(3088-3090)cGc>cAc	p.R1030H	UBR1_uc010udk.1_Missense_Mutation_p.R1030H	NM_174916	NP_777576	Q8IWV7	UBR1_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 1 (UBR1), mRNA.	1030					cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		GATCTTCTGGCGATGTAGCCT	0.368000														79			34		0	0	1	0	0
SH3PXD2B	285590	broad.mit.edu	37	5	171809059	171809059	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:171809059C>T	uc003mbr.3	-	4	553	c.382G>A	c.(382-384)Gac>Aac	p.D128N	SH3PXD2B_uc003mbs.1_Missense_Mutation_p.D128N	NM_001017995	NP_001017995	A1X283	SPD2B_HUMAN	Homo sapiens SH3 and PX domains 2B (SH3PXD2B), mRNA.	128	PX.				adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly	cell junction|cell projection|cytoplasm|podosome	SH2 domain binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GGATTCAGGTCCTCAGGTCTT	0.567000														10			5		0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57766569	57766569	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:57766569C>A	uc002yan.3	+	0	495	c.495C>A	c.(493-495)tcC>tcA	p.S165S		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	165						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					ACATCCGGTCCCACACGGGTG	0.617000														77			29		1.88708e-17	2.40588e-17	1	1	0
ZBTB45	84878	broad.mit.edu	37	19	59028726	59028726	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:59028726G>A	uc002qtd.3	-	1	607	c.315C>T	c.(313-315)gcC>gcT	p.A105A	ZBTB45_uc002qtf.3_Silent_p.A105A	NM_032792	NP_116181	Q96K62	ZBT45_HUMAN	Homo sapiens zinc finger and BTB domain containing 45 (ZBTB45), mRNA.	105					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|lung(5)|urinary_tract(1)	11		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18)		GCACTGACGCGGCCGTGAGCA	0.662000											OREG0025700	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		39			17		0	0	1	0	0
CELSR1	9620	broad.mit.edu	37	22	46765670	46765670	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:46765670G>A	uc003bhw.1	-	25	7791	c.7791C>T	c.(7789-7791)taC>taT	p.Y2597Y	CELSR1_uc011arc.1_Missense_Mutation_p.R1063W	NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila) (CELSR1), mRNA.	2597					central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CGGGGTTCCCGTAGCCCTGGG	0.637000														33			11		0	0	1	0	0
DUSP7	1849	broad.mit.edu	37	3	52084922	52084922	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52084922G>A	uc003dct.3	-	2	1248	c.1169C>T	c.(1168-1170)cCg>cTg	p.P390L		NM_001947	NP_001938	Q16829	DUS7_HUMAN	Homo sapiens dual specificity phosphatase 7 (DUSP7), mRNA.	390					MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|inactivation of MAPK activity|innate immune response|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein binding|protein tyrosine phosphatase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(193;5.14e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GTTGTCGCACGGGCTGCTTAG	0.572000														24			20		0	0	1	0	0
OR11A1	26531	broad.mit.edu	37	6	29394836	29394836	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:29394836C>T	uc003nmg.3	-	0	674	c.583G>A	c.(583-585)Gtg>Atg	p.V195M		NM_013937	NP_039225	Q9GZK7	O11A1_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily A, member 1 (OR11A1), mRNA.	195					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|large_intestine(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	19						ACCTGAGCCACTCTGGGATCC	0.522000														31			4		0	0	1	0	0
CTDSPL	10217	broad.mit.edu	37	3	38022346	38022346	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:38022346C>A	uc003chg.3	+	7	841	c.819C>A	c.(817-819)ctC>ctA	p.L273L	CTDSPL_uc003chh.3_Silent_p.L262L	NM_001008392	NP_001008393	O15194	CTDSL_HUMAN	Homo sapiens CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase-like (CTDSPL), transcript variant 1, mRNA.	273						nucleus	metal ion binding|phosphoprotein phosphatase activity			breast(1)|endometrium(2)|large_intestine(4)|skin(1)	8		Melanoma(1037;0.0122)		KIRC - Kidney renal clear cell carcinoma(284;0.0729)|Kidney(284;0.0902)		TGCACAGACTCTGCAATAGGT	0.622000														25			10		0.000673444	0.000715966	1	1	0
RAPGEF6	51735	broad.mit.edu	37	5	131014841	131014841	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:131014841C>T	uc003kvs.1	-	11	1372	c.1230G>A	c.(1228-1230)atG>atA	p.M410I	RAPGEF6_uc003kvp.2_Intron|RAPGEF6_uc003kvt.1_Missense_Mutation_p.M382I|RAPGEF6_uc010jdm.1_Missense_Mutation_p.M365I|RAPGEF6_uc003kvu.3_Missense_Mutation_p.M410I	NM_133372	NP_588613	Q8TEU7	RPGF6_HUMAN	Homo sapiens folliculin interacting protein 1 (FNIP1), transcript variant 1, mRNA.	0					Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|Ras GTPase binding|guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		CAATTCGTGGCATCGTGTAAA	0.358000														38			21		0	0	1	0	0
C2CD3	26005	broad.mit.edu	37	11	73796918	73796918	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:73796918G>A	uc001ouu.2	-	20	3882	c.3655C>T	c.(3655-3657)Cgg>Tgg	p.R1219W	C2CD3_uc001out.3_Non-coding_Transcript	NM_015531	NP_056346	Q4AC94	C2CD3_HUMAN	Homo sapiens C2 calcium-dependent domain containing 3 (C2CD3), mRNA.	1219	C2 1.		R -> Q (in dbSNP:rs826058).			centrosome				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					GCGGGTTCCCGTTCAGCCAAA	0.493000														15			9		0	0	1	0	0
POLE	5426	broad.mit.edu	37	12	133226432	133226432	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:133226432G>T	uc001uks.1	-	29	3670	c.3626C>A	c.(3625-3627)gCt>gAt	p.A1209D	POLE_uc001ukr.1_Missense_Mutation_p.A13D|POLE_uc010tbq.1_Non-coding_Transcript|POLE_uc009zyu.1_Missense_Mutation_p.A1182D	NM_006231	NP_006222	Q07864	DPOE1_HUMAN	Homo sapiens polymerase (DNA directed), epsilon (POLE), mRNA.	1209					DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity|chromatin binding|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		CATGTCAGGAGCACTTGGCCT	0.597000								DNA polymerases (catalytic subunits)						20			14		4.3838e-07	5.01911e-07	1	1	0
TANC1	85461	broad.mit.edu	37	2	160028716	160028716	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:160028716C>A	uc002uag.3	+	10	1710	c.1436C>A	c.(1435-1437)cCt>cAt	p.P479H	TANC1_uc010fol.1_Missense_Mutation_p.P373H|TANC1_uc010zcm.2_Missense_Mutation_p.P471H|TANC1_uc010fom.1_Missense_Mutation_p.P285H	NM_033394	NP_203752	Q9C0D5	TANC1_HUMAN	Homo sapiens tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1 (TANC1), transcript variant 1, mRNA.	479						cell junction|postsynaptic density|postsynaptic membrane	binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						GCTAAAACACCTCTTGGGTCT	0.463000														47			5		0.000602214	0.000641151	1	1	0
SLC35D1	23169	broad.mit.edu	37	1	67519552	67519552	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:67519552A>G	uc001ddk.2	-	0	529	c.145T>C	c.(145-147)Tac>Cac	p.Y49H	SLC35D1_uc010oph.2_5'Flank	NM_015139	NP_055954	Q9NTN3	S35D1_HUMAN	Homo sapiens solute carrier family 35 (UDP-glucuronic acid/UDP-N-acetylgalactosamine dual transporter), member D1 (SLC35D1), mRNA.	49					UDP-glucuronate biosynthetic process|chondroitin sulfate biosynthetic process|xenobiotic metabolic process	integral to endoplasmic reticulum membrane	UDP-N-acetylgalactosamine transmembrane transporter activity|UDP-glucuronic acid transmembrane transporter activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)	10					Lorazepam(DB00186)	CTCACGCCGTAAAAGCCGGCG	0.647000														17			4		0	0	1	0	0
ZNF626	199777	broad.mit.edu	37	19	20808170	20808170	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:20808170T>C	uc002npb.1	-	3	663	c.513A>G	c.(511-513)aaA>aaG	p.K171K	ZNF626_uc002npc.1_Silent_p.K95K	NM_001076675	NP_001070143	Q68DY1	ZN626_HUMAN	Homo sapiens zinc finger protein 626 (ZNF626), transcript variant 1, mRNA.	171					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|lung(3)|skin(1)	6						ATTTGAAAGGTTTTTTCCCAG	0.343000														28			19		0	0	1	0	0
ZNF532	55205	broad.mit.edu	37	18	56587422	56587422	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:56587422T>C	uc010xeg.2	+	2	2100	c.1903T>C	c.(1903-1905)Tac>Cac	p.Y635H	ZNF532_uc002lhp.3_Missense_Mutation_p.Y633H|ZNF532_uc002lho.3_Missense_Mutation_p.Y635H|ZNF532_uc002lhr.3_Missense_Mutation_p.Y633H|ZNF532_uc002lhs.3_Missense_Mutation_p.Y633H	NM_018181	NP_060651	Q9HCE3	ZN532_HUMAN	Homo sapiens zinc finger protein 532 (ZNF532), mRNA.	635					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						GACCCAGCACTACGACAGACG	0.537000														26			19		0	0	1	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33577233	33577233	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:33577233A>G	uc003jia.1	-	18	3061	c.2898T>C	c.(2896-2898)atT>atC	p.I966I	ADAMTS12_uc010iuq.1_Silent_p.I881I	NM_030955	NP_112217	P58397	ATS12_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 12 (ADAMTS12), mRNA.	966	TSP type-1 4.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.R965Q(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TGACACTGCGAATCCGCACTC	0.498000										HNSCC(64;0.19)				50			31		0	0	1	0	0
LOC344967	344967	broad.mit.edu	37	4	40045275	40045275	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:40045275G>A	uc011byr.1	-	2	875	c.381C>T	c.(379-381)aaC>aaT	p.N127N						Homo sapiens acyl-CoA thioesterase 7 pseudogene (LOC344967), non-coding RNA.																		CGTTCCTCCAGTTGGTCTCCA	0.592000														19			13		0	0	1	0	0
KRIT1	889	broad.mit.edu	37	7	91830633	91830633	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:91830633T>C	uc003ulr.1	-	17	3022	c.2130A>G	c.(2128-2130)gtA>gtG	p.V710V	KRIT1_uc010lev.1_Silent_p.V467V|KRIT1_uc003ulq.1_Silent_p.V710V|KRIT1_uc003uls.1_Silent_p.V710V|KRIT1_uc003ult.1_Silent_p.V662V|KRIT1_uc003ulu.1_Silent_p.V710V|KRIT1_uc003ulv.1_Silent_p.V710V	NM_004912	NP_919438	O00522	KRIT1_HUMAN	Homo sapiens KRIT1, ankyrin repeat containing (KRIT1), transcript variant 2, mRNA.	710	FERM.|Required for RAP1A binding.				angiogenesis|cell redox homeostasis|negative regulation of angiogenesis|negative regulation of endothelial cell apoptosis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|regulation of establishment of cell polarity|small GTPase mediated signal transduction	cell-cell junction|cytoskeleton	protein binding|small GTPase regulator activity	p.V710E(1)		autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1)	22	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GTTTTGTATGTACTATAAAGC	0.289000														80			6		0	0	1	0	0
SLC35F5	80255	broad.mit.edu	37	2	114508144	114508144	+	Splice_Site	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:114508144T>C	uc002tku.1	-	4	688	c.274_splice	c.e4-1	p.Y92_splice	SLC35F5_uc002tkt.3_Splice_Site|SLC35F5_uc002tkv.3_Splice_Site_p.Y86_splice	NM_025181	NP_079457	Q8WV83	S35F5_HUMAN	Homo sapiens solute carrier family 35, member F5 (SLC35F5), mRNA.	92					transport	integral to membrane				endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)	20						GGTAAAAACATACTGTAGAGG	0.343000														30			30		0	0	1	0	0
GRHL3	57822	broad.mit.edu	37	1	24657946	24657946	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:24657946C>T	uc021oiw.1	+	1	278	c.48C>T	c.(46-48)gaC>gaT	p.D16D	GRHL3_uc001bix.3_Silent_p.D16D|GRHL3_uc021oix.1_5'UTR|GRHL3_uc001biy.3_Silent_p.D21D|GRHL3_uc001biz.3_Intron	NM_198174	NP_937817	Q8TE85	GRHL3_HUMAN	Homo sapiens grainyhead-like 3 (Drosophila) (GRHL3), transcript variant 3, mRNA.	16					regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		TAAAGAACGACCCAGTCAACT	0.507000														40			16		0	0	1	0	0
KIAA0754	643314	broad.mit.edu	37	1	39876290	39876290	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:39876290G>T	uc009vvt.1	+	0	1115	c.353G>T	c.(352-354)aGg>aTg	p.R118M	MACF1_uc021ols.1_Intron|MACF1_uc001cdc.2_Intron|MACF1_uc021olt.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc021olw.1_Intron	NM_015038	NP_055853	O94854	K0754_HUMAN	Homo sapiens KIAA0754 (KIAA0754), mRNA.	0										central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CCACCCAGAAGGCGGCCAAAT	0.473000														98			14		4.3838e-07	5.01911e-07	1	1	0
RNF213	57674	broad.mit.edu	37	17	78327925	78327925	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:78327925T>C	uc002jyh.2	+	35	10975	c.10832T>C	c.(10831-10833)gTg>gCg	p.V3611A	RNF213_uc021uen.1_Missense_Mutation_p.V3562A|LOC100294362_uc002jyi.2_3'UTR	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	SubName: Full=Uncharacterized protein;	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			CGGAGGGTGGTGCTCCTCCTG	0.637000														44			6		0	0	1	0	0
CBR3	874	broad.mit.edu	37	21	37510183	37510183	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:37510183C>T	uc002yve.3	+	1	578	c.350C>T	c.(349-351)gCc>gTc	p.A117V	CBR3-AS1_uc002yvc.2_Intron|CBR3-AS1_uc002yvd.2_Intron	NM_001236	NP_001227	O75828	CBR3_HUMAN	Homo sapiens carbonyl reductase 3 (CBR3), mRNA.	117						cytosol|nucleus	NADPH binding|carbonyl reductase (NADPH) activity			kidney(1)|large_intestine(1)|lung(1)	3						AATTTTTTTGCCACTAGAAAC	0.403000														66			40		0	0	1	0	0
LEPRE1	64175	broad.mit.edu	37	1	43224620	43224620	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:43224620G>T	uc001chx.4	-	3	956	c.843C>A	c.(841-843)aaC>aaA	p.N281K	LEPRE1_uc001chw.2_Missense_Mutation_p.N281K|LEPRE1_uc001chv.2_Missense_Mutation_p.N281K	NM_001243246	NP_001230175	Q32P28	P3H1_HUMAN	Homo sapiens leucine proline-enriched proteoglycan (leprecan) 1 (LEPRE1), transcript variant 3, mRNA.	281					negative regulation of cell proliferation	endoplasmic reticulum|proteinaceous extracellular matrix	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			large_intestine(2)|lung(15)|ovary(5)|prostate(1)|urinary_tract(3)	26	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	CCGTGACACAGTTCTGCTTAC	0.418000														57			25		1.17739e-12	1.4548e-12	1	1	0
ATP5A1	498	broad.mit.edu	37	18	43668133	43668133	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:43668133A>G	uc002lbr.1	-	5	831	c.741T>C	c.(739-741)gtT>gtC	p.V247V	ATP5A1_uc010dnl.1_Silent_p.V197V|ATP5A1_uc002lbs.1_Silent_p.V197V|ATP5A1_uc002lbt.1_Silent_p.V247V	NM_004046	NP_004037	P25705	ATPA_HUMAN	Homo sapiens ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle (ATP5A1), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	247					ATP hydrolysis coupled proton transport|embryo development|lipid metabolic process|negative regulation of endothelial cell proliferation|respiratory electron transport chain	mitochondrial matrix|plasma membrane	ATP binding|MHC class I protein binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|skin(1)|urinary_tract(1)	22						GACCAATAGCAACATAAATAC	0.353000														88			55		0	0	1	0	0
DNAI1	27019	broad.mit.edu	37	9	34514703	34514703	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:34514703C>A	uc003zum.3	+	17	1977	c.1784C>A	c.(1783-1785)tCt>tAt	p.S595Y		NM_012144	NP_036276	Q9UI46	DNAI1_HUMAN	Homo sapiens dynein, axonemal, intermediate chain 1 (DNAI1), mRNA.	595					cell projection organization	cilium axoneme|cytoplasm|dynein complex|microtubule	motor activity			autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1)	34	all_epithelial(49;0.244)		LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)		CCATACTCTTCTACTGTGTTC	0.567000									Kartagener syndrome					81			8		0.00448238	0.0046769	1	1	0
ZNF318	24149	broad.mit.edu	37	6	43316061	43316061	+	Splice_Site	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:43316061C>T	uc003oux.3	-	6	3150	c.3072_splice	c.e6+1	p.K1024_splice	ZNF318_uc003ouw.3_Splice_Site	NM_014345	NP_055160	Q5VUA4	ZN318_HUMAN	Homo sapiens zinc finger protein 318 (ZNF318), mRNA.	1024					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			TGAGTTGTTACCTTGTTGGAG	0.368000														131			66		0	0	1	0	0
SCRT2	85508	broad.mit.edu	37	20	644558	644558	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:644558C>T	uc002wec.3	-	1	1259	c.681G>A	c.(679-681)ctG>ctA	p.L227L	SRXN1_uc002web.3_Intron	NM_033129	NP_149120	Q9NQ03	SCRT2_HUMAN	Homo sapiens scratch homolog 2, zinc finger protein (Drosophila) (SCRT2), mRNA.	227					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|liver(1)|ovary(1)	3						TGTGACCCTGCAGCAGCCAGG	0.692000														8			5		0	0	1	0	0
SIPA1L2	57568	broad.mit.edu	37	1	232551265	232551265	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:232551265G>A	uc001hvg.3	-	16	4895	c.4737C>T	c.(4735-4737)ctC>ctT	p.L1579L	SIPA1L2_uc001hvf.3_Silent_p.L653L	NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 2 (SIPA1L2), mRNA.	1579					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	p.L1579L(4)		NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				CAGCATCCACGAGGTGGGTCC	0.582000														55			8		0	0	1	0	0
EXPH5	23086	broad.mit.edu	37	11	108382390	108382390	+	Missense_Mutation	SNP	G	T	T	rs146263472		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:108382390G>T	uc001pkk.3	-	5	3955	c.3844C>A	c.(3844-3846)Cct>Act	p.P1282T	EXPH5_uc010rvz.2_Missense_Mutation_p.P1126T|EXPH5_uc010rvy.2_Missense_Mutation_p.P1094T	NM_015065	NP_055880	Q149M6	Q149M6_HUMAN	Homo sapiens exophilin 5 (EXPH5), mRNA.	1282					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		TCCACTTGAGGTGATTCTATA	0.358000														56			18		3.52763e-06	3.96648e-06	1	1	0
MBTPS2	51360	broad.mit.edu	37	X	21896174	21896174	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:21896174G>T	uc004dae.3	+	7	1182	c.985G>T	c.(985-987)Gat>Tat	p.D329Y	MBTPS2_uc010nfr.3_Intron	NM_015884	NP_056968	O43462	MBTP2_HUMAN	Homo sapiens membrane-bound transcription factor peptidase, site 2 (MBTPS2), mRNA.	329	Cys-rich.				cholesterol metabolic process|proteolysis	Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity	p.D329H(2)		breast(2)|endometrium(3)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24						CAAACGACTAGATGGTTCAAC	0.323000														92			10		0.0581538	0.0591027	1	1	0
VPS11	55823	broad.mit.edu	37	11	118939909	118939909	+	Splice_Site	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:118939909A>G	uc010ryx.2	+	2	229	c.187_splice	c.e2-1	p.M63_splice	VPS11_uc010ryy.2_5'UTR	NM_021729	NP_068375	Q9H270	VPS11_HUMAN	Homo sapiens vacuolar protein sorting 11 homolog (S. cerevisiae) (VPS11), mRNA.	64					protein transport	HOPS complex|endocytic vesicle|late endosome membrane|lysosomal membrane	nucleotide binding|protein binding|zinc ion binding			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	29	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)		CCCTGCACATATGGAAGGCCA	0.438000														146			10		0	0	1	0	0
SYT13	57586	broad.mit.edu	37	11	45265741	45265741	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:45265741C>A	uc001myq.2	-	5	1269	c.1143G>T	c.(1141-1143)caG>caT	p.Q381H	SYT13_uc009yku.1_Missense_Mutation_p.Q237H	NM_020826	NP_001234916	Q7L8C5	SYT13_HUMAN	Homo sapiens synaptotagmin XIII (SYT13), transcript variant 1, mRNA.	381	C2 2.					transport vesicle		p.G380C(1)		breast(1)|large_intestine(3)|lung(16)|ovary(1)|skin(2)	23						CTGAATCGTCCTGGCCCAGCA	0.607000														33			21		5.26018e-13	6.52578e-13	1	1	0
ITGA6	3655	broad.mit.edu	37	2	173344431	173344431	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:173344431G>A	uc002uhp.1	+	9	1654	c.1451G>A	c.(1450-1452)cGc>cAc	p.R484H	ITGA6_uc010zdy.1_Missense_Mutation_p.R365H|ITGA6_uc002uho.1_Missense_Mutation_p.R484H|ITGA6_uc010fqm.1_Missense_Mutation_p.R130H	NM_001079818	NP_001073286	P23229	ITA6_HUMAN	Homo sapiens integrin, alpha 6 (ITGA6), transcript variant 1, mRNA.	523					blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter	integrin complex	protein binding|receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			ATTGACCTCCGCCAGAAAACA	0.498000														109			75		0	0	1	0	0
PHKA2	5256	broad.mit.edu	37	X	18954256	18954256	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:18954256G>A	uc004cyv.4	-	10	1484	c.1054C>T	c.(1054-1056)Cga>Tga	p.R352*		NM_000292	NP_000283	P46019	KPB2_HUMAN	Homo sapiens phosphorylase kinase, alpha 2 (liver) (PHKA2), mRNA.	352					glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					AGGGCCTCTCGGTATTCTTGG	0.527000														15			6		0	0	1	0	0
TIE1	7075	broad.mit.edu	37	1	43777687	43777687	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:43777687G>A	uc001ciu.3	+	10	1692	c.1515G>A	c.(1513-1515)acG>acA	p.T505T	TIE1_uc010okd.2_Silent_p.T505T|TIE1_uc010oke.2_Silent_p.T460T|TIE1_uc009vwq.3_Silent_p.T461T|TIE1_uc010okf.1_Silent_p.T150T|TIE1_uc010okg.2_Silent_p.T150T	NM_005424	NP_005415	P35590	TIE1_HUMAN	Homo sapiens tyrosine kinase with immunoglobulin-like and EGF-like domains 1 (TIE1), transcript variant 1, mRNA.	505	Fibronectin type-III 1.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				AGAACGTGACGTTAATGAACC	0.602000														42			20		0	0	1	0	0
CCDC57	284001	broad.mit.edu	37	17	80136450	80136450	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:80136450G>A	uc002kdx.1	-	9	1443	c.1406C>T	c.(1405-1407)gCg>gTg	p.A469V	CCDC57_uc010dik.1_5'UTR|CCDC57_uc002kdz.1_Missense_Mutation_p.A469V	NM_198082	NP_932348	Q2TAC2	CCD57_HUMAN	Homo sapiens coiled-coil domain containing 57 (CCDC57), mRNA.	469										endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			CTCCTGTAGCGCCTGCTCTGT	0.647000														17			9		0	0	1	0	0
HSPBAP1	79663	broad.mit.edu	37	3	122496626	122496626	+	Silent	SNP	C	T	T	rs149404291		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:122496626C>T	uc003efu.2	-	1	331	c.192G>A	c.(190-192)tcG>tcA	p.S64S	HSPBAP1_uc003efv.2_Silent_p.S64S	NM_024610	NP_078886	Q96EW2	HBAP1_HUMAN	Homo sapiens HSPB (heat shock 27kDa) associated protein 1 (HSPBAP1), mRNA.	64			S -> A (in dbSNP:rs16833517).			cytoplasm				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|urinary_tract(1)	16				GBM - Glioblastoma multiforme(114;0.0531)		GAAGGACCTGCGAAAGGTATT	0.413000														28			19		0	0	1	0	0
CENPF	1063	broad.mit.edu	37	1	214811346	214811346	+	Splice_Site	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:214811346T>C	uc001hkm.3	+	11	1756	c.1582_splice	c.e11+2	p.A528_splice		NM_016343	NP_057427	P49454	CENPF_HUMAN	Homo sapiens centromere protein F, 350/400kDa (mitosin) (CENPF), mRNA.	528					DNA replication|G2 phase of mitotic cell cycle|cell differentiation|cell division|cell proliferation|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		AAATGAAAGGTAAGTAAACTT	0.388000														44			27		0	0	1	0	0
LOC440040	440040	broad.mit.edu	37	11	49805585	49805585	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:49805585G>A	uc010rhy.2	+	2	1260	c.782G>A	c.(781-783)aGg>aAg	p.R261K	LOC440040_uc009ymb.3_Missense_Mutation_p.R261K					Homo sapiens glutamate receptor, metabotropic 5 pseudogene (LOC440040), non-coding RNA.																		ATGGCCATGAGGCGCCTGGGT	0.527000														38			22		0	0	1	0	0
KANK4	163782	broad.mit.edu	37	1	62740589	62740589	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:62740589G>A	uc001dah.4	-	2	564	c.187C>T	c.(187-189)Cag>Tag	p.Q63*	KANK4_uc001dai.4_Intron|KANK4_uc001dag.4_5'Flank	NM_181712	NP_859063	Q5T7N3	KANK4_HUMAN	Homo sapiens KN motif and ankyrin repeat domains 4 (KANK4), mRNA.	63										NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						AATTTGGCCTGCTTGGCCCTT	0.542000														145			14		0	0	1	0	0
PTPRG	5793	broad.mit.edu	37	3	62063840	62063840	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:62063840C>T	uc003dlb.3	+	4	1242	c.523C>T	c.(523-525)Cag>Tag	p.Q175*	PTPRG_uc003dlc.3_Nonsense_Mutation_p.Q175*	NM_002841	NP_002832	P23470	PTPRG_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, G (PTPRG), mRNA.	175	Alpha-carbonic anhydrase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		CTTACAGATGCAGATTTTCTT	0.303000														20			13		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90052412	90052412	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:90052412G>A	uc003kju.3	+	55	11818	c.11722G>A	c.(11722-11724)Gat>Aat	p.D3908N	GPR98_uc003kjt.3_Missense_Mutation_p.D1614N|GPR98_uc003kjv.3_Missense_Mutation_p.D1508N	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	3908					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AGAAAATGACGATCCCAGAGG	0.443000														27			11		0	0	1	0	0
MYO1D	4642	broad.mit.edu	37	17	31039046	31039046	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:31039046C>T	uc002hho.1	-	15	2093	c.2081G>A	c.(2080-2082)cGt>cAt	p.R694H	MYO1D_uc002hhp.1_Missense_Mutation_p.R694H	NM_015194	NP_056009	O94832	MYO1D_HUMAN	Homo sapiens myosin ID (MYO1D), mRNA.	694						myosin complex	ATP binding|actin binding|calmodulin binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			CATCTGGGCACGGAGTTCTTC	0.333000														76			51		0	0	1	0	0
ACVR1	90	broad.mit.edu	37	2	158630609	158630609	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:158630609C>T	uc002tzn.3	-	5	1064	c.634G>A	c.(634-636)Gag>Aag	p.E212K	ACVR1_uc002tzm.3_Missense_Mutation_p.E212K|ACVR1_uc010fog.2_Missense_Mutation_p.E212K	NM_001105	NP_001104537	Q04771	ACVR1_HUMAN	Homo sapiens activin A receptor, type I (ACVR1), transcript variant 1, mRNA.	212	Protein kinase.				BMP signaling pathway|G1/S transition of mitotic cell cycle|negative regulation of activin receptor signaling pathway|negative regulation of apoptosis|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	activin receptor complex	ATP binding|SMAD binding|activin binding|follistatin binding|metal ion binding|protein homodimerization activity|transforming growth factor beta binding			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	19				BRCA - Breast invasive adenocarcinoma(221;0.104)	Adenosine triphosphate(DB00171)	CCGACACACTCCAACAGTGTA	0.378000														33			25		0	0	1	0	0
ZNF646	9726	broad.mit.edu	37	16	31089462	31089462	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:31089462G>A	uc002eap.3	+	1	2106	c.1817G>A	c.(1816-1818)aGa>aAa	p.R606K	ZNF646_uc021tgu.1_Missense_Mutation_p.R606K	NM_014699	NP_055514	O15015	ZN646_HUMAN	Homo sapiens zinc finger protein 646 (ZNF646), mRNA.	606					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						GAAAATAGCAGAACAGAGACC	0.542000														30			16		0	0	1	0	0
MPST	4357	broad.mit.edu	37	22	37425477	37425477	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:37425477C>T	uc011amu.2	+	2	1052	c.876C>T	c.(874-876)taC>taT	p.Y292Y	MPST_uc003aqi.1_3'UTR|MPST_uc003aqm.3_Silent_p.Y272Y|MPST_uc003aql.3_Silent_p.Y272Y|MPST_uc003aqj.3_Silent_p.Y272Y	NM_021126	NP_001123989	P25325	THTM_HUMAN	Homo sapiens mercaptopyruvate sulfurtransferase (MPST), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	272					cyanate catabolic process|response to toxin		3-mercaptopyruvate sulfurtransferase activity|thiosulfate sulfurtransferase activity			central_nervous_system(2)|kidney(1)|lung(2)|prostate(1)|skin(1)	7						TGCCCATCTACGATGGCTCCT	0.657000														17			12		0	0	1	0	0
MGAT1	4245	broad.mit.edu	37	5	180218882	180218882	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:180218882C>T	uc003mmg.4	-	1	1585	c.1090G>A	c.(1090-1092)Ggt>Agt	p.G364S	MGAT1_uc010jlf.3_Missense_Mutation_p.G364S|MGAT1_uc010jlg.3_Missense_Mutation_p.G364S|MGAT1_uc003mmh.4_Missense_Mutation_p.G364S|MGAT1_uc010jlh.3_Missense_Mutation_p.G364S|MGAT1_uc003mmi.4_Missense_Mutation_p.G364S|MGAT1_uc021yjn.1_Missense_Mutation_p.G364S	NM_002406	NP_002397	P26572	MGAT1_HUMAN	Homo sapiens mannosyl (alpha-1,3-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase (MGAT1), transcript variant 2, mRNA.	364					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|metal ion binding			endometrium(1)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	13	all_cancers(89;1.11e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00356)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGGGGAGCACCGTAGACGCGG	0.587000														55			4		0	0	1	0	0
URGCP	55665	broad.mit.edu	37	7	43917891	43917891	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:43917891G>A	uc003tiw.3	-	5	1228	c.1171C>T	c.(1171-1173)Cgt>Tgt	p.R391C	URGCP_uc022acg.1_Intron|URGCP_uc003tiu.3_Missense_Mutation_p.R348C|URGCP_uc003tiv.3_Missense_Mutation_p.R316C|URGCP_uc003tix.3_Missense_Mutation_p.R382C|URGCP_uc003tiy.3_Missense_Mutation_p.R348C|URGCP_uc003tiz.3_Missense_Mutation_p.R348C|URGCP_uc011kbj.2_Missense_Mutation_p.R348C	NM_001077663	NP_001071131	Q8TCY9	URGCP_HUMAN	Homo sapiens upregulator of cell proliferation (URGCP), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	391					cell cycle	centrosome|nucleus	GTP binding			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CGCTTCCCACGGTAGGGACTC	0.413000														150			40		0	0	1	0	0
ALK	238	broad.mit.edu	37	2	29519866	29519866	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:29519866C>T	uc002rmy.3	-	8	2657	c.1705G>A	c.(1705-1707)Gtg>Atg	p.V569M		NM_004304	NP_004295	Q9UM73	ALK_HUMAN	Homo sapiens anaplastic lymphoma receptor tyrosine kinase (ALK), mRNA.	569	MAM 2.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	TTGTTCTCCACTAGCACCAAG	0.557000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome					38			11		0	0	1	0	0
CHAC1	79094	broad.mit.edu	37	15	41247771	41247771	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:41247771G>A	uc001znh.2	+	2	614	c.594G>A	c.(592-594)gcG>gcA	p.A198A	CHAC1_uc010uct.1_Silent_p.A153A	NM_024111	NP_077016	Q9BUX1	CHAC1_HUMAN	Homo sapiens ChaC, cation transport regulator homolog 1 (E. coli) (CHAC1), transcript variant 1, mRNA.	198					apoptosis in response to endoplasmic reticulum stress|response to unfolded protein	cytosol	protein binding			endometrium(1)|large_intestine(1)|skin(1)	3		all_cancers(109;1.42e-13)|all_epithelial(112;1.48e-11)|Lung NSC(122;5.77e-09)|all_lung(180;1.08e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.66e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.163)		TGGGCCCTGCGCCTGAAGAGG	0.597000														86			52		0	0	1	0	0
ACTRT2	140625	broad.mit.edu	37	1	2938559	2938559	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:2938559C>T	uc001ajz.3	+	0	514	c.309C>T	c.(307-309)agC>agT	p.S103S		NM_080431	NP_536356	Q8TDY3	ACTT2_HUMAN	Homo sapiens actin-related protein T2 (ACTRT2), mRNA.	103						cytoplasm|cytoskeleton		p.P102P(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)		TGAAACCCAGCGACCAGCCCC	0.597000														35			23		0	0	1	0	0
NVL	4931	broad.mit.edu	37	1	224477369	224477369	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:224477369G>A	uc001hok.3	-	12	1454	c.1392C>T	c.(1390-1392)caC>caT	p.H464H	NVL_uc001hol.3_Silent_p.H358H|NVL_uc010pvd.2_Silent_p.H373H|NVL_uc010pve.2_Silent_p.H275H|NVL_uc010pvf.2_Non-coding_Transcript	NM_002533	NP_002524	O15381	NVL_HUMAN	Homo sapiens nuclear VCP-like (NVL), transcript variant 1, mRNA.	464						aggresome|cytoplasm|nucleolus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|prostate(1)|skin(4)|soft_tissue(1)|urinary_tract(1)	42				GBM - Glioblastoma multiforme(131;0.00501)		CTGGAGTTAGGTGTGCTAAGT	0.433000														34			18		0	0	1	0	0
POMT1	10585	broad.mit.edu	37	9	134398374	134398374	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:134398374G>A	uc004cav.3	+	19	2327	c.2125G>A	c.(2125-2127)Gcg>Acg	p.A709T	POMT1_uc004cax.3_Missense_Mutation_p.A687T|POMT1_uc011mcj.2_Missense_Mutation_p.A427T|POMT1_uc004cau.3_Missense_Mutation_p.A687T|POMT1_uc004caw.3_Missense_Mutation_p.A633T|POMT1_uc011mck.2_Missense_Mutation_p.A570T|POMT1_uc011mcl.2_Missense_Mutation_p.A535T|POMT1_uc011mcm.2_Missense_Mutation_p.A657T	NM_007171	NP_009102	Q9Y6A1	POMT1_HUMAN	Homo sapiens protein-O-mannosyltransferase 1 (POMT1), transcript variant 1, mRNA.	709					multicellular organismal development|protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	31		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259)		GTACTCCTCCGCGTGCCACGT	0.637000														5			9		0	0	1	0	0
HCN3	57657	broad.mit.edu	37	1	155258082	155258082	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155258082C>A	uc001fjz.1	+	7	2161	c.2153C>A	c.(2152-2154)tCt>tAt	p.S718Y	HCN3_uc010pfz.1_Missense_Mutation_p.S413Y	NM_020897	NP_065948	Q9P1Z3	HCN3_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 3 (HCN3), mRNA.	718	Pro-rich.					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TCCCAACCCTCTCTGCCTCAG	0.692000														14			6		0.0381472	0.0388409	1	1	0
ODZ2	57451	broad.mit.edu	37	5	167671627	167671627	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:167671627C>T	uc010jjd.3	+	25	5696	c.5696C>T	c.(5695-5697)gCc>gTc	p.A1899V	ODZ2_uc003lzr.4_Missense_Mutation_p.A1669V|ODZ2_uc003lzt.4_Missense_Mutation_p.A1272V|ODZ2_uc010jje.3_Missense_Mutation_p.A1163V	NM_001122679	NP_001116151			Homo sapiens odz, odd Oz/ten-m homolog 2 (Drosophila) (ODZ2), mRNA.											NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|lung(45)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(2)	122	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		CAGCGTGGGGCCATGAGCGAG	0.617000														41			18		0	0	1	0	0
DEPDC1	55635	broad.mit.edu	37	1	68943596	68943596	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:68943596C>A	uc001dem.4	-	10	2289	c.2172G>T	c.(2170-2172)caG>caT	p.Q724H	DEPDC1_uc001dej.4_Missense_Mutation_p.Q92H|DEPDC1_uc001dek.4_Non-coding_Transcript|DEPDC1_uc001del.4_Missense_Mutation_p.Q440H	NM_001114120	NP_001107592	Q5TB30	DEP1A_HUMAN	Homo sapiens DEP domain containing 1 (DEPDC1), transcript variant 1, mRNA.	724					intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	GTPase activator activity|protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)		GAGCACTAATCTGCTTACAGT	0.348000														188			11		2.80697e-09	3.3309e-09	1	1	0
FAM58BP	339521	broad.mit.edu	37	1	200183408	200183408	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:200183408T>C	uc009wzi.1	+	0	753	c.717T>C	c.(715-717)tcT>tcC	p.S239S		NM_001105517	NP_001098987	P0C7Q3	FA58B_HUMAN	Homo sapiens family with sequence similarity 58, member B, pseudogene (FAM58BP), mRNA.	239					regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent		protein kinase binding			lung(1)	1						CTATTGTGTCTGATCTCATTC	0.542000														108			10		0	0	1	0	0
KIF21B	23046	broad.mit.edu	37	1	200956013	200956013	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:200956013C>T	uc001gvs.2	-	25	3965	c.3648G>A	c.(3646-3648)ccG>ccA	p.P1216P	KIF21B_uc009wzl.2_Silent_p.P1216P|KIF21B_uc001gvr.2_Silent_p.P1216P|KIF21B_uc010ppn.2_Silent_p.P1216P	NM_001252100	NP_001239029	O75037	KI21B_HUMAN	Homo sapiens kinesin family member 21B (KIF21B), transcript variant 1, mRNA.	1216					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						TTCTCGTCAGCGGGGACGTCT	0.547000														28			30		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140811664	140811664	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140811664C>T	uc003lkt.2	+	0	1507	c.1338C>T	c.(1336-1338)aaC>aaT	p.N446N	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lkq.2_Intron|PCDHGC5_uc003lkp.2_Intron|PCDHGC5_uc011dba.2_Silent_p.N446N	NM_003735	NP_003726	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 12 (PCDHGA12), transcript variant 1, mRNA.	448	Cadherin 4.				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)			CAGACACCAACGACAACCCGC	0.582000														29			11		0	0	1	0	0
DYNC1LI2	1783	broad.mit.edu	37	16	66757651	66757651	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:66757651T>C	uc002eqb.1	-	12	1484	c.1453A>G	c.(1453-1455)Aac>Gac	p.N485D	DYNC1LI2_uc010vis.1_Missense_Mutation_p.N408D	NM_006141	NP_006132	O43237	DC1L2_HUMAN	Homo sapiens dynein, cytoplasmic 1, light intermediate chain 2 (DYNC1LI2), mRNA.	485					transport	centrosome|cytoplasmic dynein complex|microtubule	ATP binding|motor activity			central_nervous_system(3)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(4)|stomach(1)	15		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0907)|Epithelial(162;0.212)		GTTGAAGAGTTTGTTACCATA	0.353000														39			11		0	0	1	0	0
P4HTM	54681	broad.mit.edu	37	3	49044189	49044189	+	Missense_Mutation	SNP	T	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49044189T>A	uc003cvh.3	+	8	1890	c.1541T>A	c.(1540-1542)aTt>aAt	p.I514N	P4HTM_uc003cvg.3_Missense_Mutation_p.I453N|WDR6_uc011bbx.1_5'Flank|WDR6_uc003cvj.2_5'Flank|WDR6_uc011bby.1_5'Flank|WDR6_uc010hkn.2_5'Flank|WDR6_uc011bbz.1_5'Flank	NM_177938	NP_808807	Q9NXG6	P4HTM_HUMAN	Homo sapiens prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum) (P4HTM), transcript variant 3, mRNA.	453						endoplasmic reticulum membrane|integral to membrane	L-ascorbic acid binding|calcium ion binding|iron ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21					Vitamin C(DB00126)	ACCAAGTGGATTGCCAACAAC	0.627000														16			12		0	0	1	0	0
MKI67	4288	broad.mit.edu	37	10	129906896	129906896	+	Missense_Mutation	SNP	C	T	T	rs143061680		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:129906896C>T	uc001lke.3	-	12	3403	c.3208G>A	c.(3208-3210)Gag>Aag	p.E1070K	MKI67_uc001lkf.3_Missense_Mutation_p.E710K|MKI67_uc009yav.1_Missense_Mutation_p.E645K|MKI67_uc009yaw.1_Missense_Mutation_p.E220K	NM_002417	NP_002408	P46013	KI67_HUMAN	Homo sapiens antigen identified by monoclonal antibody Ki-67 (MKI67), transcript variant 1, mRNA.	1070	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TTTGGAGACTCCTTAAACGTT	0.562000														118			81		0	0	1	0	0
KLK11	11012	broad.mit.edu	37	19	51527961	51527961	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:51527961G>A	uc002pvd.1	-	2	338	c.226C>T	c.(226-228)Cgg>Tgg	p.R76W	KLK11_uc002pvc.4_Missense_Mutation_p.R44W|KLK11_uc002pve.1_5'UTR|KLK11_uc002pvb.2_Missense_Mutation_p.R44W|KLK11_uc002pvf.1_Missense_Mutation_p.R44W|KLK11_uc010eom.3_Missense_Mutation_p.R44W	NM_144947	NP_006844	Q9UBX7	KLK11_HUMAN	Homo sapiens kallikrein-related peptidase 11 (KLK11), transcript variant 2, mRNA.	76	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|GBM - Glioblastoma multiforme(134;0.00878)		CAGAGTAGCCGCGTCTTCTCG	0.682000														9			7		0	0	1	0	0
MAN2A1	4124	broad.mit.edu	37	5	109183481	109183481	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:109183481C>T	uc003kou.1	+	18	3929	c.2966C>T	c.(2965-2967)gCt>gTt	p.A989V		NM_002372	NP_002363	Q16706	MA2A1_HUMAN	Homo sapiens mannosidase, alpha, class 2A, member 1 (MAN2A1), mRNA.	989					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		AAAAGAAGTGCTGTTAATACG	0.323000														22			12		0	0	1	0	0
C20orf96	140680	broad.mit.edu	37	20	257686	257686	+	Splice_Site	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:257686G>A	uc002wde.2	-	8	993	c.825_splice	c.e8+1	p.A275_splice	C20orf96_uc021vzl.1_Splice_Site_p.A274_splice|C20orf96_uc010zpi.2_Splice_Site_p.A222_splice|C20orf96_uc010zpj.1_Splice_Site_p.A240_splice|C20orf96_uc010zpk.2_Splice_Site_p.A213_splice	NM_153269	NP_695001	Q9NUD7	CT096_HUMAN	Homo sapiens chromosome 20 open reading frame 96 (C20orf96), transcript variant 1, mRNA.	275										endometrium(3)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12		all_cancers(10;0.00959)|Lung NSC(37;0.227)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			GCTACTCACCGCCACCACAGA	0.572000														118			81		0	0	1	0	0
DOCK7	85440	broad.mit.edu	37	1	63113847	63113847	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:63113847C>T	uc001daq.3	-	5	696	c.662G>A	c.(661-663)cGt>cAt	p.R221H	DOCK7_uc001dan.3_Missense_Mutation_p.R113H|DOCK7_uc001dao.3_Missense_Mutation_p.R113H|DOCK7_uc001dap.3_Missense_Mutation_p.R221H|DOCK7_uc009wah.1_Missense_Mutation_p.R221H	NM_033407	NP_212132	Q96N67	DOCK7_HUMAN	Homo sapiens dedicator of cytokinesis 7 (DOCK7), mRNA.	221					activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|Rac GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						ATCATTCTGACGGTCTATTTC	0.388000														83			27		0	0	1	0	0
INTS4	92105	broad.mit.edu	37	11	77635939	77635939	+	Splice_Site	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:77635939C>A	uc001oys.3	-	12	1400	c.1372_splice	c.e12-1	p.D458_splice	INTS4_uc001oyt.3_Splice_Site|INTS4_uc001oyu.1_Intron	NM_033547	NP_291025	Q96HW7	INT4_HUMAN	Homo sapiens integrator complex subunit 4 (INTS4), mRNA.	458					snRNA processing	integrator complex	protein binding		INTS4/GAB2(2)	NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1)	32	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)			TGGATGAATCCTTTTAAAAAA	0.418000														27			9		0.000151284	0.000164177	1	1	0
COX7A1	1346	broad.mit.edu	37	19	36642626	36642626	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:36642626G>A	uc002odm.1	-	1	509	c.47C>T	c.(46-48)tCc>tTc	p.S16F		NM_001864	NP_001855	P24310	CX7A1_HUMAN	Homo sapiens cytochrome c oxidase subunit VIIa polypeptide 1 (muscle) (COX7A1), nuclear gene encoding mitochondrial protein, mRNA.	16					generation of precursor metabolites and energy	integral to membrane|mitochondrial respiratory chain	cytochrome-c oxidase activity|electron carrier activity			endometrium(2)|large_intestine(1)	3	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CCGGGCGGTGGAGCTGAAGGA	0.692000														4			5		0	0	1	0	0
ACTR8	93973	broad.mit.edu	37	3	53911754	53911754	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:53911754G>A	uc003dhd.3	-	3	531	c.430C>T	c.(430-432)Cga>Tga	p.R144*	ACTR8_uc003dhb.3_5'Flank|ACTR8_uc003dhc.3_Nonsense_Mutation_p.R33*	NM_022899	NP_075050	Q9H981	ARP8_HUMAN	Homo sapiens ARP8 actin-related protein 8 homolog (yeast) (ACTR8), mRNA.	144					DNA recombination|DNA repair|cell division|mitosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex	protein binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111)		ATTGCAGGTCGCATCTGCTTA	0.398000														36			30		0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54799345	54799345	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:54799345G>A	uc021smr.1	+	20	5326	c.5326G>A	c.(5326-5328)Gca>Aca	p.A1776T	UNC13C_uc021sms.1_Missense_Mutation_p.A1778T	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	1778	MHD1.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CCAGTATGCTGCAATTGTATC	0.313000														4			3		0	0	1	0	0
GCNT4	51301	broad.mit.edu	37	5	74324682	74324682	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:74324682C>T	uc003kdn.3	-	0	2043	c.1181G>A	c.(1180-1182)gGa>gAa	p.G394E		NM_016591	NP_057675	Q9P109	GCNT4_HUMAN	Homo sapiens glucosaminyl (N-acetyl) transferase 4, core 2 (GCNT4), mRNA.	394					protein O-linked glycosylation	Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|skin(1)|stomach(2)	19		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;8.44e-57)		TTCTGCAGCTCCATAAATACA	0.403000														44			39		0	0	1	0	0
ACSBG2	81616	broad.mit.edu	37	19	6147597	6147597	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:6147597C>A	uc002mef.1	+	2	435	c.208C>A	c.(208-210)Ctc>Atc	p.L70I	ACSBG2_uc002mee.1_5'UTR|ACSBG2_uc002meg.1_Missense_Mutation_p.L70I|ACSBG2_uc002meh.1_Missense_Mutation_p.L70I|ACSBG2_uc002mei.1_Missense_Mutation_p.L20I|ACSBG2_uc010xiz.1_Missense_Mutation_p.L70I	NM_030924	NP_112186	Q5FVE4	ACBG2_HUMAN	Homo sapiens acyl-CoA synthetase bubblegum family member 2 (ACSBG2), mRNA.	70					cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis	membrane|microsome|mitochondrion	ATP binding|acyl-CoA thioesterase activity|long-chain fatty acid-CoA ligase activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TTATCCAGCCCTCGCATCCAA	0.463000														189			9		0.000442599	0.000473562	1	1	0
TMF1	7110	broad.mit.edu	37	3	69079032	69079032	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:69079032C>T	uc011bfx.2	-	10	2784	c.2537G>A	c.(2536-2538)aGt>aAt	p.S846N	TMF1_uc003dnn.3_Missense_Mutation_p.S843N	NM_007114	NP_009045	P82094	TMF1_HUMAN	Homo sapiens TATA element modulatory factor 1 (TMF1), mRNA.	843					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi membrane|nucleus	DNA binding|protein binding|transcription cofactor activity			cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		TTGAAATCTACTGTTTTCCTG	0.403000														63			41		0	0	1	0	0
VILL	50853	broad.mit.edu	37	3	38047959	38047959	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:38047959T>C	uc003chj.3	+	18	2511	c.2225T>C	c.(2224-2226)cTa>cCa	p.L742P	VILL_uc003chl.3_Missense_Mutation_p.L742P	NM_015873	NP_056957	O15195	VILL_HUMAN	Homo sapiens villin-like (VILL), mRNA.	742					actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		AACTTGCGGCTATCCAGATGG	0.622000														93			9		0	0	1	0	0
WDR83OS	51398	broad.mit.edu	37	19	12779185	12779185	+	Silent	SNP	C	T	T	rs143004772	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:12779185C>T	uc002mud.2	-	3	557	c.309G>A	c.(307-309)acG>acA	p.T103T	MAN2B1_uc010dyv.1_5'Flank|MAN2B1_uc002mub.2_5'Flank|WDR83_uc002muc.3_Intron|WDR83_uc002mue.4_Intron|WDR83_uc010dyw.3_5'Flank	NM_016145	NP_057229	Q9Y284	CS056_HUMAN	Homo sapiens WD repeat domain 83 opposite strand (WDR83OS), mRNA.	103						integral to membrane											ACCATGGGGGCGTCATGGGCT	0.572000														9			5		0	0	1	0	0
SFSWAP	6433	broad.mit.edu	37	12	132212850	132212850	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:132212850G>A	uc001uja.1	+	6	1098	c.958G>A	c.(958-960)Gtg>Atg	p.V320M	SFSWAP_uc010tbn.1_Missense_Mutation_p.V320M|SFSWAP_uc001ujb.1_Missense_Mutation_p.V113M|SFSWAP_uc001uiz.1_Missense_Mutation_p.V194M	NM_004592	NP_004583	Q12872	SFSWA_HUMAN	Homo sapiens splicing factor, suppressor of white-apricot homolog (Drosophila) (SFSWAP), mRNA.	320					mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	RNA binding|protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						CTTGAAGGTAGTGGACCCAGA	0.537000														91			6		0	0	1	0	0
ATPIF1	93974	broad.mit.edu	37	1	28564459	28564459	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:28564459G>A	uc001bpq.3	+	2	384	c.291G>A	c.(289-291)caG>caA	p.Q97Q	ATPIF1_uc001bpp.3_3'UTR|ATPIF1_uc001bpr.3_3'UTR	NM_016311	NP_057395	Q9UII2	ATIF1_HUMAN	Homo sapiens ATPase inhibitory factor 1 (ATPIF1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	97					angiogenesis|generation of precursor metabolites and energy|negative regulation of endothelial cell proliferation|negative regulation of hydrolase activity|negative regulation of nucleotide metabolic process|protein homotetramerization	cell surface|mitochondrion	ATPase binding|ATPase inhibitor activity|angiostatin binding|calmodulin binding|protein homodimerization activity			lung(4)	4		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;2.36e-22)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|BRCA - Breast invasive adenocarcinoma(304;0.00574)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0649)		GCCATAAGCAGAAGATCAAAA	0.413000														29			19		0	0	1	0	0
ABLIM2	84448	broad.mit.edu	37	4	7986584	7986584	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:7986584C>T	uc003gko.3	-	16	1758	c.1615G>A	c.(1615-1617)Gcc>Acc	p.A539T	ABLIM2_uc003gkk.3_Intron|ABLIM2_uc003gkl.3_Missense_Mutation_p.A267T|ABLIM2_uc003gkm.4_Missense_Mutation_p.A487T|ABLIM2_uc003gkp.3_Intron|ABLIM2_uc003gkq.3_Intron|ABLIM2_uc003gkr.3_Intron|ABLIM2_uc003gkj.4_Missense_Mutation_p.A573T|ABLIM2_uc003gki.3_5'Flank	NM_001130084	NP_001123556	Q6H8Q1	ABLM2_HUMAN	Homo sapiens actin binding LIM protein family, member 2 (ABLIM2), transcript variant 2, mRNA.	539					axon guidance|cytoskeleton organization	actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus	actin binding|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1)	25						CCCCAGCTGGCATCCGGGTCT	0.617000														4			4		0	0	1	0	0
SRBD1	55133	broad.mit.edu	37	2	45780832	45780832	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:45780832T>G	uc002rus.3	-	10	1523	c.1447A>C	c.(1447-1449)Aag>Cag	p.K483Q	SRBD1_uc010yoc.2_Missense_Mutation_p.K2Q	NM_018079	NP_060549	Q8N5C6	SRBD1_HUMAN	Homo sapiens S1 RNA binding domain 1 (SRBD1), mRNA.	483					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		RNA binding|hydrolase activity, acting on ester bonds			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			TATAAGATCTTCATTAACTCT	0.358000														54			4		0	0	1	0	0
CSF1R	1436	broad.mit.edu	37	5	149437134	149437134	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:149437134C>T	uc003lrl.3	-	14	2349	c.2154G>A	c.(2152-2154)caG>caA	p.Q718Q	CSF1R_uc011dcd.2_Intron|CSF1R_uc010jhc.3_Non-coding_Transcript|CSF1R_uc003lrm.3_Silent_p.Q718Q	NM_005211	NP_005202	P07333	CSF1R_HUMAN	Homo sapiens colony stimulating factor 1 receptor (CSF1R), mRNA.	718	Protein kinase.				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	TGTCCACACCCTGGCTGGAGA	0.577000														26			17		0	0	1	0	0
GALNT4	8693	broad.mit.edu	37	12	89818984	89818984	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:89818984G>T	uc001tbc.3	-	10	1653	c.1286C>A	c.(1285-1287)aCt>aAt	p.T429N	GALNT4_uc001tba.3_Missense_Mutation_p.T387N|GALNT4_uc001tbb.3_Missense_Mutation_p.T299N|GALNT4_uc010sun.2_Non-coding_Transcript|GALNT4_uc009zsp.3_Non-coding_Transcript|GALNT4_uc009zsq.3_Non-coding_Transcript	NM_172240	NP_001186706	Q8N4A0	GALT4_HUMAN	Homo sapiens POC1 centriolar protein homolog B (Chlamydomonas) (POC1B), transcript variant 1, mRNA.	0					carbohydrate metabolic process	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			endometrium(4)|kidney(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)	14						TAAAGCATCAGTCACAGCGAG	0.428000														60			39		3.21399e-22	4.17215e-22	1	1	0
AHI1	54806	broad.mit.edu	37	6	135788751	135788751	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:135788751G>T	uc003qgi.3	-	5	541	c.157C>A	c.(157-159)Ctt>Att	p.L53I	AHI1_uc003qgh.3_Missense_Mutation_p.L53I|AHI1_uc003qgj.3_Missense_Mutation_p.L53I|AHI1_uc003qgk.4_Non-coding_Transcript|AHI1_uc003qgl.3_Missense_Mutation_p.L53I	NM_001134831	NP_060121	Q8N157	AHI1_HUMAN	Homo sapiens Abelson helper integration site 1 (AHI1), transcript variant 1, mRNA.	53						adherens junction|cilium|microtubule basal body				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		ATATAGTGAAGATTGCTTCTA	0.328000														25			8		3.09899e-07	3.55757e-07	1	1	0
KAT6B	23522	broad.mit.edu	37	10	76741602	76741602	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:76741602T>G	uc001jwn.1	+	10	2782	c.2289T>G	c.(2287-2289)atT>atG	p.I763M	KAT6B_uc001jwm.1_Missense_Mutation_p.I471M|KAT6B_uc001jwo.1_Missense_Mutation_p.I471M|KAT6B_uc001jwp.1_Missense_Mutation_p.I580M	NM_012330	NP_036462	Q8WYB5	MYST4_HUMAN	Homo sapiens K(lysine) acetyltransferase 6B (KAT6B), mRNA.	763	Catalytic.|Interaction with BRPF1.				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding										GTAAAAATATTTTGCTAAGAC	0.318000														63			6		0	0	1	0	0
OR6F1	343169	broad.mit.edu	37	1	247875949	247875949	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:247875949G>T	uc001idj.1	-	0	109	c.109C>A	c.(109-111)Ctc>Atc	p.L37I		NM_001005286	NP_001005286	Q8NGZ6	OR6F1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily F, member 1 (OR6F1), mRNA.	37					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			CTAACTGTGAGGATGTACATC	0.468000														93			59		3.53049e-34	4.67477e-34	1	1	0
ADH6	130	broad.mit.edu	37	4	100131284	100131284	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:100131284G>T	uc003huo.2	-	4	616	c.522C>A	c.(520-522)agC>agA	p.S174R	LOC100507053_uc003hum.2_Intron|ADH6_uc011cef.1_Intron|ADH6_uc003hup.4_Missense_Mutation_p.S174R|ADH6_uc010ile.3_Missense_Mutation_p.S174R	NM_001102470	NP_001095940	P28332	ADH6_HUMAN	Homo sapiens alcohol dehydrogenase 6 (class V) (ADH6), transcript variant 1, mRNA.	174					ethanol oxidation|response to ethanol|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|electron carrier activity|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)	20				OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	Abacavir(DB01048)|NADH(DB00157)	AAAAGCCACAGCTAATTAGGC	0.433000														37			23		1.36565e-18	1.75266e-18	1	1	0
ATP13A3	79572	broad.mit.edu	37	3	194159674	194159674	+	Missense_Mutation	SNP	T	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:194159674T>A	uc003fty.4	-	15	2140	c.1738A>T	c.(1738-1740)Aca>Tca	p.T580S	ATP13A3_uc003ftz.1_Missense_Mutation_p.T286S	NM_024524	NP_078800	Q9H7F0	AT133_HUMAN	Homo sapiens ATPase type 13A3 (ATP13A3), mRNA.	580					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		TGAAGTGCTGTTTCTTCTTCA	0.383000														45			28		0	0	1	0	0
PGBD2	267002	broad.mit.edu	37	1	249212402	249212402	+	Missense_Mutation	SNP	G	A	A	rs139567720		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:249212402G>A	uc001ifh.3	+	2	1766	c.1619G>A	c.(1618-1620)cGg>cAg	p.R540Q	PGBD2_uc001ifg.3_Missense_Mutation_p.R289Q|PGBD2_uc009xhd.3_Missense_Mutation_p.R537Q|PGBD2_uc021pmh.1_Missense_Mutation_p.R289Q	NM_170725	NP_001017434	Q6P3X8	PGBD2_HUMAN	Homo sapiens piggyBac transposable element derived 2 (PGBD2), transcript variant 1, mRNA.	540										NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			CGAAGCAGGCGGTTGGAGACT	0.562000														53			37		0	0	1	0	0
CXXC1	30827	broad.mit.edu	37	18	47809259	47809259	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:47809259G>A	uc002leq.4	-	13	2522	c.1789C>T	c.(1789-1791)Cgg>Tgg	p.R597W	MBD1_uc002leg.3_5'Flank|MBD1_uc010dow.2_5'Flank|MBD1_uc010xdi.2_5'Flank|MBD1_uc010xdj.2_5'Flank|MBD1_uc002lel.4_5'Flank|MBD1_uc002len.3_5'Flank|MBD1_uc002leh.4_5'Flank|MBD1_uc002lei.4_5'Flank|MBD1_uc002lej.4_5'Flank|MBD1_uc002lek.4_5'Flank|MBD1_uc002lem.4_5'Flank|MBD1_uc021ukd.1_5'Flank|MBD1_uc021uke.1_5'Flank|MBD1_uc010xdk.2_5'Flank|MBD1_uc010dox.1_5'Flank|MBD1_uc002leo.2_5'Flank|CXXC1_uc002lep.4_Missense_Mutation_p.R454W|CXXC1_uc002ler.4_Missense_Mutation_p.R601W|CXXC1_uc010doy.3_Silent_p.C584C	NM_014593	NP_055408	Q9P0U4	CXXC1_HUMAN	Homo sapiens CXXC finger protein 1 (CXXC1), transcript variant 2, mRNA.	597					histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	Set1C/COMPASS complex|nuclear speck	protein binding|unmethylated CpG binding|zinc ion binding			autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						TCCGCACGCCGCAGCTTCTCC	0.612000														20			12		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140167237	140167237	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140167237G>A	uc003lhb.2	+	0	1362	c.1362G>A	c.(1360-1362)gcG>gcA	p.A454A	PCDHAC2_uc003lha.2_Silent_p.A454A|PCDHAC2_uc003lgz.3_Silent_p.A454A	NM_018900	NP_061723	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 1 (PCDHA1), transcript variant 1, mRNA.	468	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.A454A(2)|p.T454S(1)		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)			ACGCGCCTGCGTTCGCGCAGC	0.677000														46			31		0	0	1	0	0
KIAA0754	643314	broad.mit.edu	37	1	39877589	39877589	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:39877589C>A	uc009vvt.1	+	0	2414	c.1652C>A	c.(1651-1653)gCt>gAt	p.A551D	MACF1_uc021ols.1_Intron|MACF1_uc001cdc.2_Intron|MACF1_uc021olt.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc021olw.1_Intron	NM_015038	NP_055853	O94854	K0754_HUMAN	Homo sapiens KIAA0754 (KIAA0754), mRNA.	415										central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GTGCCTAATGCTGTGGAACTT	0.408000														63			4		1	1	1	1	0
OR4A16	81327	broad.mit.edu	37	11	55110872	55110872	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:55110872C>T	uc010rie.2	+	0	196	c.196C>T	c.(196-198)Ctt>Ttt	p.L66F		NM_001005274	NP_001005274	Q8NH70	O4A16_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 16 (OR4A16), mRNA.	66					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						CTACTTGTCACTTATGGATGC	0.448000														165			11		0	0	1	0	0
SH3PXD2A	9644	broad.mit.edu	37	10	105377025	105377025	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:105377025G>A	uc010qqu.1	-	7	661	c.594C>T	c.(592-594)gaC>gaT	p.D198D	SH3PXD2A_uc010qqr.2_Silent_p.D145D|SH3PXD2A_uc010qqs.1_Silent_p.D90D|SH3PXD2A_uc010qqt.1_Silent_p.D132D|SH3PXD2A_uc009xxn.1_Silent_p.D90D|SH3PXD2A_uc001kxj.1_Silent_p.D255D	NM_014631	NP_055446	Q5TCZ1	SPD2A_HUMAN	Homo sapiens SH3 and PX domains 2A (SH3PXD2A), mRNA.	283	SH3 1.				cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		AGCCAATCTCGTCCTTGCTTT	0.527000														46			6		0	0	1	0	0
RBFA	79863	broad.mit.edu	37	18	77797335	77797335	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:77797335C>T	uc002lns.3	+	2	357	c.207C>T	c.(205-207)taC>taT	p.Y69Y	RBFA_uc010drh.3_Silent_p.Y69Y|RBFA_uc010dri.2_Intron	NM_024805	NP_079081	Q8N0V3	RBFA_HUMAN	Homo sapiens ribosome binding factor A (putative) (RBFA), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	69					rRNA processing	mitochondrion				endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|urinary_tract(1)	15						TGGAGACTTACAAACCATCCA	0.552000														48			21		0	0	1	0	0
STAG2	10735	broad.mit.edu	37	X	123185184	123185184	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:123185184C>T	uc004eua.3	+	12	1540	c.1136C>T	c.(1135-1137)aCc>aTc	p.T379I	STAG2_uc004etz.4_Missense_Mutation_p.T379I|STAG2_uc004eub.3_Missense_Mutation_p.T379I|STAG2_uc004euc.3_Missense_Mutation_p.T379I|STAG2_uc004eud.3_Missense_Mutation_p.T379I|STAG2_uc004eue.3_Missense_Mutation_p.T379I	NM_001042749	NP_001036215	Q8N3U4	STAG2_HUMAN	Homo sapiens stromal antigen 2 (STAG2), transcript variant 1, mRNA.	379					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						GTGTCTATGACCCTTGACAAA	0.284000														58			30		0	0	1	0	0
PIK3R2	5296	broad.mit.edu	37	19	18273240	18273240	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:18273240C>T	uc002nia.1	+	8	1545	c.1033C>T	c.(1033-1035)Cgg>Tgg	p.R345W	PIK3R2_uc002nib.1_Non-coding_Transcript|PIK3R2_uc010ebi.1_Non-coding_Transcript	NM_005027	NP_005018	O00459	P85B_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 2 (beta) (PIK3R2), mRNA.	345	SH2 1.				T cell costimulation|T cell receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|negative regulation of anti-apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	phosphatidylinositol 3-kinase complex	GTPase activator activity|phosphatidylinositol 3-kinase regulator activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(3)|pancreas(1)|stomach(1)	24						CGAGAAACTCCGGGACACTCC	0.612000														21			8		0	0	1	0	0
FOXM1	2305	broad.mit.edu	37	12	2977736	2977736	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:2977736C>T	uc001qlf.3	-	3	1122	c.839G>A	c.(838-840)gGc>gAc	p.G280D	FOXM1_uc001qle.3_Missense_Mutation_p.G280D|FOXM1_uc009zea.3_Missense_Mutation_p.G279D|FOXM1_uc009zeb.3_Missense_Mutation_p.G279D|FOXM1_uc001qlg.3_Missense_Mutation_p.G280D	NM_021953	NP_068772	Q08050	FOXM1_HUMAN	Homo sapiens forkhead box M1 (FOXM1), transcript variant 2, mRNA.	280					cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of Ras protein signal transduction|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis	cytoplasm|transcription factor complex	DNA bending activity|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			TACCTTCCAGCCTGGCTTGGC	0.488000														99			8		0	0	1	0	0
ARHGEF2	9181	broad.mit.edu	37	1	155932403	155932403	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155932403C>T	uc001fmu.2	-	12	1469	c.1214G>A	c.(1213-1215)cGc>cAc	p.R405H	ARHGEF2_uc001fmr.2_Missense_Mutation_p.R333H|ARHGEF2_uc001fms.2_Missense_Mutation_p.R360H|ARHGEF2_uc001fmt.2_Missense_Mutation_p.R361H|ARHGEF2_uc010pgt.1_Missense_Mutation_p.R334H|ARHGEF2_uc010pgu.1_Missense_Mutation_p.R406H	NM_004723	NP_004714	Q92974	ARHG2_HUMAN	Homo sapiens Rho/Rac guanine nucleotide exchange factor (GEF) 2 (ARHGEF2), transcript variant 3, mRNA.	361	DH.				actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of Rho protein signal transduction|regulation of cell proliferation|small GTPase mediated signal transduction	Golgi apparatus|cytosol|microtubule|ruffle membrane|spindle|tight junction	Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|microtubule binding|zinc ion binding	p.R333H(1)		breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					TTGCTGGAAGCGTTTGTCTCG	0.577000														54			40		0	0	1	0	0
MLLT4	4301	broad.mit.edu	37	6	168352039	168352039	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:168352039G>A	uc021zik.1	+	28	4180	c.3861G>A	c.(3859-3861)tcG>tcA	p.S1287S	MLLT4_uc003qwb.1_Silent_p.S1312S|MLLT4_uc003qwc.2_Silent_p.S1328S|MLLT4_uc021zij.1_Silent_p.S1311S|MLLT4_uc021zim.1_Silent_p.S874S|MLLT4_uc003qwg.1_Silent_p.S637S	NM_001040000	NP_001035089	P55196	AFAD_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (MLLT4), transcript variant 2, mRNA.	1328					adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		CCTCTAAGTCGGTCACCCCTG	0.547000			T	MLL	AL									111			8		0	0	1	0	0
ABCF1	23	broad.mit.edu	37	6	30553102	30553102	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:30553102C>A	uc003nql.3	+	14	1552	c.1457C>A	c.(1456-1458)gCt>gAt	p.A486D	ABCF1_uc003nqk.2_Missense_Mutation_p.A487D|ABCF1_uc003nqm.3_Missense_Mutation_p.A448D	NM_001025091	NP_001020262	Q8NE71	ABCF1_HUMAN	Homo sapiens ATP-binding cassette, sub-family F (GCN20), member 1 (ABCF1), transcript variant 1, mRNA.	486	ABC transporter 1.				inflammatory response|translational initiation	nuclear envelope|nucleoplasm|polysomal ribosome	ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						GACCTCAACGCTGTCATCTGG	0.557000														40			7		0.0293803	0.0299714	1	1	0
NUDT11	55190	broad.mit.edu	37	X	51239031	51239031	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:51239031C>T	uc010njt.3	-	0	429	c.266G>A	c.(265-267)cGc>cAc	p.R89H		NM_018159	NP_060629	Q96G61	NUD11_HUMAN	Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 11 (NUDT11), mRNA.	89	Nudix hydrolase.|Substrate binding (By similarity).					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9	Ovarian(276;0.236)					TCTGTGCTTGCGATCCTGGTT	0.582000										HNSCC(48;0.14)				36			31		0	0	1	0	0
LRRC4C	57689	broad.mit.edu	37	11	40137233	40137233	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:40137233G>T	uc021qgf.1	-	0	610	c.610C>A	c.(610-612)Ctt>Att	p.L204I	LRRC4C_uc001mxc.1_Missense_Mutation_p.L200I|LRRC4C_uc001mxd.1_Missense_Mutation_p.L200I|LRRC4C_uc001mxa.1_Missense_Mutation_p.L204I|LRRC4C_uc001mxb.1_Missense_Mutation_p.L200I	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN	Homo sapiens leucine rich repeat containing 4C (LRRC4C), mRNA.	204					regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				CACATGGCAAGGTTCAAATAC	0.453000														69			29		1.88708e-17	2.40588e-17	1	1	0
DDAH1	23576	broad.mit.edu	37	1	85816136	85816136	+	Missense_Mutation	SNP	C	T	T	rs147415500	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:85816136C>T	uc001dlb.3	-	3	720	c.559G>A	c.(559-561)Gca>Aca	p.A187T	DDAH1_uc001dlc.3_Missense_Mutation_p.A84T|LOC646626_uc001dla.2_Intron|DDAH1_uc010osb.2_Missense_Mutation_p.A87T|DDAH1_uc009wco.3_Missense_Mutation_p.A84T	NM_012137	NP_001127917	O94760	DDAH1_HUMAN	Homo sapiens dimethylarginine dimethylaminohydrolase 1 (DDAH1), transcript variant 1, mRNA.	187					arginine catabolic process|citrulline metabolic process|nitric oxide mediated signal transduction		dimethylargininase activity|metal ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|skin(1)	5				all cancers(265;0.0318)|Epithelial(280;0.0657)	L-Citrulline(DB00155)	GACCCAATTGCGATCAGGTTA	0.483000														156			53		0	0	1	0	0
PCDHB17	54661	broad.mit.edu	37	5	140537043	140537043	+	Nonsense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140537043C>A	uc003lis.3	+	0	1464	c.1464C>A	c.(1462-1464)taC>taA	p.Y488*						Homo sapiens protocadherin beta 17 pseudogene (PCDHB17), non-coding RNA.																		AGGTCACCTACTCGCTGCTGC	0.642000														76			8		5.18039e-06	5.80246e-06	1	1	0
PFKFB1	5207	broad.mit.edu	37	X	54975618	54975618	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:54975618C>T	uc004dty.1	-	8	954	c.883G>A	c.(883-885)Ggc>Agc	p.G295S	PFKFB1_uc010nkd.1_Intron|PFKFB1_uc011mol.1_Missense_Mutation_p.G230S	NM_002625	NP_002616	P16118	F261_HUMAN	Homo sapiens 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 (PFKFB1), mRNA.	295	Fructose-2,6-bisphosphatase.				energy reserve metabolic process|fructose 2,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|intracellular protein kinase cascade	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 complex	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)	24						GAGCTGATGCCCTGGGACTGA	0.572000														12			14		0	0	1	0	0
TGFBRAP1	9392	broad.mit.edu	37	2	105924676	105924676	+	Missense_Mutation	SNP	T	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:105924676T>A	uc002tcq.3	-	1	167	c.83A>T	c.(82-84)gAg>gTg	p.E28V	TGFBRAP1_uc002tcr.4_Missense_Mutation_p.E28V	NM_004257	NP_004248	Q8WUH2	TGFA1_HUMAN	Homo sapiens transforming growth factor, beta receptor associated protein 1 (TGFBRAP1), transcript variant 1, mRNA.	28	CNH.				regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding			central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						CTCCACGCACTCTATGTTGAC	0.597000														36			4		0	0	1	0	0
PLCH1	23007	broad.mit.edu	37	3	155215116	155215116	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:155215116C>A	uc021xge.1	-	13	2128	c.1851G>T	c.(1849-1851)gtG>gtT	p.V617V	PLCH1_uc021xgd.1_Silent_p.V617V|PLCH1_uc021xgf.1_Silent_p.V599V	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Homo sapiens phospholipase C, eta 1 (PLCH1), transcript variant 1, mRNA.	617	PI-PLC Y-box.				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TACCGTCATCCACAATGTCCT	0.413000														55			16		2.35188e-11	2.87337e-11	1	1	0
OR1M1	125963	broad.mit.edu	37	19	9204457	9204457	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9204457C>T	uc010xkj.2	+	0	537	c.537C>T	c.(535-537)tgC>tgT	p.C179C		NM_001004456	NP_001004456	Q8NGA1	OR1M1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily M, member 1 (OR1M1), mRNA.	179					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C179C(2)		breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						ACTACTTCTGCGACCTCACTC	0.562000														53			31		0	0	1	0	0
CEP135	9662	broad.mit.edu	37	4	56858237	56858237	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:56858237G>T	uc003hbi.3	+	14	2229	c.1995G>T	c.(1993-1995)gaG>gaT	p.E665D	CEP135_uc003hbj.3_Missense_Mutation_p.E371D	NM_025009	NP_079285	Q66GS9	CP135_HUMAN	Homo sapiens centrosomal protein 135kDa (CEP135), mRNA.	665					G2/M transition of mitotic cell cycle|centriole replication|centriole-centriole cohesion	centriole|cytosol	protein C-terminus binding	p.T664T(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					AGAAAACAGAGGTGAACTCAC	0.328000														26			15		7.07596e-05	7.73367e-05	1	1	0
NFAT5	10725	broad.mit.edu	37	16	69727997	69727997	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:69727997G>A	uc002exm.2	+	11	4551	c.4215G>A	c.(4213-4215)atG>atA	p.M1405I	NFAT5_uc002exj.2_Missense_Mutation_p.M1329I|NFAT5_uc002exk.2_Missense_Mutation_p.M1329I|NFAT5_uc002exl.2_Missense_Mutation_p.M1423I|NFAT5_uc002exn.2_Missense_Mutation_p.M1422I|NFAT5_uc002exo.2_Non-coding_Transcript|NFAT5_uc002exi.3_Missense_Mutation_p.M1329I	NM_006599	NP_775322	O94916	NFAT5_HUMAN	Homo sapiens nuclear factor of activated T-cells 5, tonicity-responsive (NFAT5), transcript variant 3, mRNA.	1405					excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						AGAACAACATGCCTGGAATTC	0.453000														39			31		0	0	1	0	0
NUSAP1	51203	broad.mit.edu	37	15	41667964	41667964	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:41667964A>G	uc001zns.4	+	8	1325	c.1061A>G	c.(1060-1062)aAg>aGg	p.K354R	NUSAP1_uc001znr.4_Missense_Mutation_p.K353R|NUSAP1_uc001znt.4_Missense_Mutation_p.K339R|NUSAP1_uc001znv.4_Missense_Mutation_p.K352R|NUSAP1_uc010ucw.2_Intron|NUSAP1_uc010bce.3_Intron|NUSAP1_uc001znu.4_Missense_Mutation_p.K353R|NUSAP1_uc001znw.4_Missense_Mutation_p.K158R	NM_016359	NP_057443	Q9BXS6	NUSAP_HUMAN	Homo sapiens nucleolar and spindle associated protein 1 (NUSAP1), transcript variant 1, mRNA.	354	Interaction with microtubules (By similarity).				cytokinesis after mitosis|establishment of mitotic spindle localization|mitotic chromosome condensation|positive regulation of mitosis	chromosome|cytoplasm|nucleolus	DNA binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2)	13		all_cancers(109;5.07e-19)|all_epithelial(112;2.43e-16)|Lung NSC(122;1.81e-11)|all_lung(180;4.81e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;9.63e-17)|GBM - Glioblastoma multiforme(113;1.59e-06)|BRCA - Breast invasive adenocarcinoma(123;0.168)		GTCTCCAATAAGAAACCAGTG	0.408000														62			8		0	0	1	0	0
IFT74	80173	broad.mit.edu	37	9	26984505	26984505	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:26984505C>T	uc010mja.3	+	5	540	c.413C>T	c.(412-414)aCt>aTt	p.T138I	IFT74_uc010mjb.3_Missense_Mutation_p.T138I|IFT74_uc003zqf.4_Missense_Mutation_p.T138I|IFT74_uc003zqg.4_Missense_Mutation_p.T138I	NM_001099223	NP_079379	Q96LB3	IFT74_HUMAN	Homo sapiens intraflagellar transport 74 homolog (Chlamydomonas) (IFT74), transcript variant 3, mRNA.	138						cytoplasmic membrane-bounded vesicle|intraflagellar transport particle B|microtubule-based flagellum				endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	6		all_neural(11;2.36e-10)		Lung(218;1.4e-05)|LUSC - Lung squamous cell carcinoma(38;0.000114)		AGGGCTGAGACTTTAGCTGTT	0.274000														104			9		0	0	1	0	0
C2orf55	343990	broad.mit.edu	37	2	99411032	99411032	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:99411032G>T	uc002szf.1	-	9	3146	c.2852C>A	c.(2851-2853)tCt>tAt	p.S951Y		NM_207362	NP_997245	Q6NV74	CB055_HUMAN	Homo sapiens chromosome 2 open reading frame 55 (C2orf55), mRNA.	951										NS(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28						CCAAGCTTGAGATTTCTTTCT	0.468000														113			8		5.68852e-11	6.91301e-11	1	1	0
HNF4A	3172	broad.mit.edu	37	20	43030050	43030050	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:43030050C>T	uc002xma.3	+	0	127	c.38C>T	c.(37-39)gCc>gTc	p.A13V	HNF4A_uc010zwo.1_Intron|HNF4A_uc002xlt.3_Intron|HNF4A_uc002xlu.3_Intron|HNF4A_uc002xlv.3_Intron|BC071794_uc002xlw.1_Intron|HNF4A_uc002xly.3_Missense_Mutation_p.A13V|HNF4A_uc010ggq.3_5'UTR|HNF4A_uc002xlz.3_Missense_Mutation_p.A13V	NM_000457	NP_000448	P41235	HNF4A_HUMAN	Homo sapiens hepatocyte nuclear factor 4, alpha (HNF4A), transcript variant 2, mRNA.	13					blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|activating transcription factor binding|protein homodimerization activity|receptor binding|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			ATGGACATGGCCGACTACAGT	0.637000														53			5		0	0	1	0	0
ATM	472	broad.mit.edu	37	11	108122575	108122575	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:108122575G>A	uc001pkb.1	+	10	2004	c.1619G>A	c.(1618-1620)tGc>tAc	p.C540Y	ATM_uc009yxr.1_Missense_Mutation_p.C540Y	NM_000051	NP_000042	Q13315	ATM_HUMAN	Homo sapiens ataxia telangiectasia mutated (ATM), mRNA.	540			C -> Y (in a colorectal adenocarcinoma sample; somatic mutation).		DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2/M transition DNA damage checkpoint|cell cycle arrest|cellular response to gamma radiation|double-strand break repair via homologous recombination|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein N-terminus binding|protein complex binding|protein dimerization activity	p.C540Y(2)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		CCTGCAGTATGCTGTTTGACT	0.388000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)				40			36		0	0	1	0	0
UNC13B	10497	broad.mit.edu	37	9	35375166	35375166	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:35375166G>T	uc003zwr.3	+	12	1628	c.1336G>T	c.(1336-1338)Gct>Tct	p.A446S	UNC13B_uc003zwq.3_Missense_Mutation_p.A446S	NM_006377	NP_006368	O14795	UN13B_HUMAN	Homo sapiens unc-13 homolog B (C. elegans) (UNC13B), mRNA.	446					excretion|induction of apoptosis|intracellular signal transduction	Golgi apparatus|cell junction|synapse	metal ion binding|receptor activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			TTCTGCAATGGCTACACGCAC	0.537000														129			75		6.43283e-47	8.56796e-47	1	1	0
PYGL	5836	broad.mit.edu	37	14	51376748	51376748	+	Missense_Mutation	SNP	T	G	G	rs113993987		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:51376748T>G	uc001wyu.3	-	16	2169	c.2042A>C	c.(2041-2043)aAg>aCg	p.K681T	PYGL_uc010tqq.2_Missense_Mutation_p.K647T	NM_002863	NP_002854	P06737	PYGL_HUMAN	Homo sapiens phosphorylase, glycogen, liver (PYGL), transcript variant 1, mRNA.	681					glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)	TAGCATGAACTTCATATTGCC	0.488000														142			12		0	0	1	0	0
LEMD3	23592	broad.mit.edu	37	12	65639941	65639941	+	Splice_Site	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:65639941G>T	uc001ssl.2	+	13	2599	c.2573_splice	c.e13-1	p.G858_splice	LEMD3_uc009zqo.2_Splice_Site_p.G857_splice	NM_014319	NP_055134	Q9Y2U8	MAN1_HUMAN	Homo sapiens LEM domain containing 3 (LEMD3), transcript variant 1, mRNA.	858	Interaction with SMAD1, SMAD2, SMAD3 and SMAD5.				negative regulation of BMP signaling pathway|negative regulation of activin receptor signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway	integral to nuclear inner membrane|membrane fraction	DNA binding|nucleotide binding|protein binding			breast(1)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	36			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0104)		TCTTACAACAGGGAAATTGGT	0.313000														52			8		0.000157383	0.000170012	1	1	0
ARID1A	8289	broad.mit.edu	37	1	27105658	27105658	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:27105658G>T	uc001bmv.1	+	19	5642	c.5269G>T	c.(5269-5271)Gct>Tct	p.A1757S	ARID1A_uc001bmu.1_Missense_Mutation_p.A1540S|ARID1A_uc001bmx.1_Missense_Mutation_p.A603S|ARID1A_uc009vsm.1_Missense_Mutation_p.A85S|ARID1A_uc009vsn.1_5'UTR	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	1757					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GTCTAGTCCAGCTCCCATGGA	0.473000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""									69			42		1.96642e-18	2.52029e-18	1	1	0
PGBD5	79605	broad.mit.edu	37	1	230492774	230492774	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:230492774C>T	uc010pwb.2	-	1	442	c.418G>A	c.(418-420)Gag>Aag	p.E140K		NM_024554	NP_078830	Q8N414	PGBD5_HUMAN	Homo sapiens piggyBac transposable element derived 5 (PGBD5), mRNA.	140						integral to membrane				biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(2)|skin(1)	33	Breast(184;0.0397)	Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;0.201)		AGGATCTTCTCGAAGCGGGCC	0.627000														28			28		0	0	1	0	0
DPP9	91039	broad.mit.edu	37	19	4682774	4682774	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:4682774G>T	uc002mba.3	-	19	2666	c.2408C>A	c.(2407-2409)cCt>cAt	p.P803H	LOC100131094_uc021ung.1_Intron	NM_139159	NP_631898	Q86TI2	DPP9_HUMAN	Homo sapiens dipeptidyl-peptidase 9 (DPP9), mRNA.	774					proteolysis	cytosol|membrane	aminopeptidase activity|serine-type peptidase activity			cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)		GTTGTTCTCAGGGACGTCCAT	0.647000														5			4		0.00909568	0.00940365	1	1	0
LCT	3938	broad.mit.edu	37	2	136552211	136552211	+	Splice_Site	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:136552211C>A	uc002tuu.1	-	14	5122	c.5111_splice	c.e14+1	p.R1704_splice		NM_002299	NP_002290	P09848	LPH_HUMAN	Homo sapiens lactase (LCT), mRNA.	1704	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		GTGGACTTACCTGTCTGCATC	0.532000														47			5		0.014758	0.0151755	1	1	0
CHAF1A	10036	broad.mit.edu	37	19	4432086	4432086	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:4432086C>A	uc002mal.3	+	11	2185	c.2085C>A	c.(2083-2085)gaC>gaA	p.D695E		NM_005483	NP_005474	Q13111	CAF1A_HUMAN	Homo sapiens chromatin assembly factor 1, subunit A (p150) (CHAF1A), mRNA.	695	Binds to p60.				DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|cell cycle|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGACAGAGACTGCGCAGGCG	0.637000								Chromatin Structure						50			5		0.184627	0.186034	1	1	0
SSPO	23145	broad.mit.edu	37	7	149509032	149509032	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:149509032G>A	uc010lpk.3	+	67	9569	c.9569G>A	c.(9568-9570)aGc>aAc	p.S3190N		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	3193	TSP type-1 11.				cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			ACCCCTTGGAGCCAGTGTTCA	0.682000														40			9		0	0	1	0	0
OR52E2	119678	broad.mit.edu	37	11	5080059	5080059	+	Nonsense_Mutation	SNP	G	A	A	rs146178299		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:5080059G>A	uc010qyw.2	-	0	799	c.799C>T	c.(799-801)Cga>Tga	p.R267*		NM_001005164	NP_001005164	Q8NGJ4	O52E2_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily E, member 2 (OR52E2), mRNA.	267					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(13)|ovary(2)|skin(3)	20		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)		GGCACATTTCGGCCAAAGCGA	0.473000														17			30		0	0	1	0	0
HUWE1	10075	broad.mit.edu	37	X	53612074	53612074	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:53612074G>A	uc004dsp.3	-	39	5301	c.4899C>T	c.(4897-4899)agC>agT	p.S1633S	HUWE1_uc004dsn.3_Silent_p.S458S	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	Homo sapiens HECT, UBA and WWE domain containing 1 (HUWE1), mRNA.	1633	WWE.				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TGCTATTGTTGCTTGCACTGT	0.458000														71			60		0	0	1	0	0
MYH7	4625	broad.mit.edu	37	14	23894525	23894525	+	Missense_Mutation	SNP	C	T	T	rs3218716	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:23894525C>T	uc001wjx.3	-	20	2495	c.2389G>A	c.(2389-2391)Gcc>Acc	p.A797T		NM_000257	NP_000248	P12883	MYH7_HUMAN	Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA.	797	IQ.		A -> T (in CMH1; dbSNP:rs3218716).		adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TCCATTCTGGCGAGCACACCT	0.597000														28			19		0	0	1	0	0
ZNF607	84775	broad.mit.edu	37	19	38190099	38190099	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:38190099G>A	uc002ohc.2	-	4	1529	c.933C>T	c.(931-933)tgC>tgT	p.C311C	ZNF607_uc002ohb.2_Silent_p.C310C	NM_032689	NP_116078	Q96SK3	ZN607_HUMAN	Homo sapiens zinc finger protein 607 (ZNF607), transcript variant 1, mRNA.	311					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			CGCATTCCTTGCATTCATAGG	0.413000														86			59		0	0	1	0	0
PCNX	22990	broad.mit.edu	37	14	71502809	71502809	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:71502809G>T	uc001xmo.2	+	18	4248	c.3802G>T	c.(3802-3804)Gta>Tta	p.V1268L	PCNX_uc010are.1_Missense_Mutation_p.V1157L|PCNX_uc010arf.1_Missense_Mutation_p.V128L	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	Homo sapiens pecanex homolog (Drosophila) (PCNX), mRNA.	1268						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		TGACCTGGTAGTATGCATTGT	0.313000														81			37		1.62957e-23	2.1242e-23	1	1	0
TRIM42	287015	broad.mit.edu	37	3	140401710	140401710	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:140401710C>T	uc003eto.2	+	1	954	c.748C>T	c.(748-750)Cgc>Tgc	p.R250C		NM_152616	NP_689829	Q8IWZ5	TRI42_HUMAN	Homo sapiens tripartite motif containing 42 (TRIM42), mRNA.	250						intracellular	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CGCTTACAAGCGCTGCATCAC	0.622000														26			19		0	0	1	0	0
FCHSD2	9873	broad.mit.edu	37	11	72726854	72726854	+	Splice_Site	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:72726854C>A	uc009ytl.3	-	4	463	c.242_splice	c.e4+1	p.R81_splice	FCHSD2_uc010rrg.2_Splice_Site|FCHSD2_uc001oth.4_Splice_Site_p.R25_splice|FCHSD2_uc001oti.2_Splice_Site_p.R40_splice	NM_014824	NP_055639	O94868	FCSD2_HUMAN	Homo sapiens FCH and double SH3 domains 2 (FCHSD2), mRNA.	81							protein binding			endometrium(2)|large_intestine(11)|lung(5)|ovary(2)|prostate(1)|skin(1)	22			BRCA - Breast invasive adenocarcinoma(5;3.3e-05)			ACTAATTTACCTGTAATCATT	0.308000														20			4		0.00909568	0.00940365	1	1	0
FSTL5	56884	broad.mit.edu	37	4	162402263	162402263	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:162402263G>A	uc003iqh.3	-	12	1953	c.1517C>T	c.(1516-1518)gCt>gTt	p.A506V	FSTL5_uc003iqi.3_Missense_Mutation_p.A505V|FSTL5_uc010iqv.3_Missense_Mutation_p.A496V	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN	Homo sapiens follistatin-like 5 (FSTL5), transcript variant 1, mRNA.	506						extracellular region	calcium ion binding	p.A506A(1)		central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		GACATTAACAGCTGATGCCCA	0.383000														94			51		0	0	1	0	0
ERC2	26059	broad.mit.edu	37	3	56114999	56114999	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:56114999C>A	uc021wzo.1	-	5	1627	c.1487G>T	c.(1486-1488)aGa>aTa	p.R496I	ERC2_uc003dhr.1_Missense_Mutation_p.R496I|ERC2_uc003dht.1_5'UTR	NM_015576	NP_056391	O15083	ERC2_HUMAN	Homo sapiens ELKS/RAB6-interacting/CAST family member 2 (ERC2), mRNA.	496						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		CAGTCGTAATCTCAGCGCATC	0.438000														16			9		5.16669e-11	6.28684e-11	1	1	0
PCDHB2	56133	broad.mit.edu	37	5	140475745	140475745	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140475745C>A	uc003lil.3	+	0	1509	c.1371C>A	c.(1369-1371)tcC>tcA	p.S457S	PCDHB2_uc003lim.1_Silent_p.S118S	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	Homo sapiens protocadherin beta 2 (PCDHB2), mRNA.	457					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCAAACCTCCTACACCCTGT	0.622000														82			10		2.74318e-10	3.3084e-10	1	1	0
NFATC4	4776	broad.mit.edu	37	14	24839159	24839159	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:24839159C>T	uc001wpc.3	+	1	876	c.555C>T	c.(553-555)gcC>gcT	p.A185A	NFATC4_uc010alr.3_Silent_p.A248A|NFATC4_uc010tok.2_Silent_p.A248A|NFATC4_uc010tol.2_Silent_p.A248A|NFATC4_uc010als.2_Silent_p.A198A|NFATC4_uc010too.2_Silent_p.A198A|NFATC4_uc010tom.2_Silent_p.A198A|NFATC4_uc010ton.2_Silent_p.A198A|NFATC4_uc010toq.2_Silent_p.A217A|NFATC4_uc010alt.3_Silent_p.A217A|NFATC4_uc010top.2_Silent_p.A217A|NFATC4_uc010alu.3_Intron|NFATC4_uc010tor.2_Silent_p.A185A|NFATC4_uc010tos.2_Silent_p.A115A|NFATC4_uc010tot.2_Silent_p.A173A|NFATC4_uc010tou.2_Silent_p.A115A|NFATC4_uc010tov.2_Silent_p.A173A|NFATC4_uc010tow.2_Silent_p.A115A|NFATC4_uc010alv.3_Silent_p.A173A|NFATC4_uc010tox.2_Silent_p.A115A|NFATC4_uc001wpd.3_5'Flank|NFATC4_uc010toy.2_5'Flank|NFATC4_uc010toz.2_5'Flank	NM_004554	NP_001185895	Q14934	NFAC4_HUMAN	Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4 (NFATC4), transcript variant 2, mRNA.	185	Pro-rich.				cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		TCTCCGATGCCTCTGACGAGG	0.672000														17			10		0	0	1	0	0
DUSP7	1849	broad.mit.edu	37	3	52088295	52088295	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52088295G>A	uc003dct.3	-	1	692	c.613C>T	c.(613-615)Ctg>Ttg	p.L205L	DUSP7_uc010hma.2_Silent_p.L205L	NM_001947	NP_001938	Q16829	DUS7_HUMAN	Homo sapiens dual specificity phosphatase 7 (DUSP7), mRNA.	205	Ser-rich.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|inactivation of MAPK activity|innate immune response|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein binding|protein tyrosine phosphatase activity	p.G204C(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(193;5.14e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CCCAGGCCCAGCACTGAGGTG	0.637000														30			22		0	0	1	0	0
CDK19	23097	broad.mit.edu	37	6	110953232	110953232	+	Splice_Site	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:110953232C>T	uc003puh.1	-	6	719	c.646_splice	c.e6+1	p.D216_splice	CDK19_uc003pui.1_Splice_Site_p.D156_splice|CDK19_uc011eax.1_Splice_Site_p.D92_splice	NM_015076	NP_055891	Q9BWU1	CDK19_HUMAN	Homo sapiens cyclin-dependent kinase 19 (CDK19), mRNA.	216	Protein kinase.						ATP binding|cyclin-dependent protein kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)	22						GACCAACTTACCAATGGCCTT	0.338000														68			23		0	0	1	0	0
TMOD2	29767	broad.mit.edu	37	15	52060587	52060587	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:52060587C>T	uc002abk.3	+	2	476	c.255C>T	c.(253-255)gaC>gaT	p.D85D	TMOD2_uc002abl.4_Silent_p.D85D|TMOD2_uc010bfb.3_Silent_p.D41D	NM_014548	NP_055363	Q9NZR1	TMOD2_HUMAN	Homo sapiens tropomodulin 2 (neuronal) (TMOD2), transcript variant 1, mRNA.	85					nervous system development	cytoplasm|cytoskeleton	actin binding|tropomyosin binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16				all cancers(107;0.00435)		ACAGAGAGGACTTTGTGCCCT	0.502000														20			8		0	0	1	0	0
EDEM3	80267	broad.mit.edu	37	1	184663407	184663407	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:184663407C>T	uc010pom.2	-	20	2898	c.2637G>A	c.(2635-2637)caG>caA	p.Q879Q	EDEM3_uc010pok.2_Silent_p.Q863Q|EDEM3_uc010pol.2_Non-coding_Transcript	NM_025191	NP_079467	Q9BZQ6	EDEM3_HUMAN	Homo sapiens ER degradation enhancer, mannosidase alpha-like 3 (EDEM3), mRNA.	863					post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GATTAGAAGTCTGTTCAGAAG	0.373000														59			5		0	0	1	0	0
MET	4233	broad.mit.edu	37	7	116436105	116436105	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:116436105C>A	uc003vij.3	+	20	4287	c.4100C>A	c.(4099-4101)tCt>tAt	p.S1367Y	MET_uc010lkh.3_Missense_Mutation_p.S1385Y|MET_uc011knj.2_Missense_Mutation_p.S937Y	NM_000245	NP_000236	P08581	MET_HUMAN	Homo sapiens met proto-oncogene (hepatocyte growth factor receptor) (MET), transcript variant 2, mRNA.	1367	Interaction with RANBP9.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			CCGTATCCTTCTCTGTTGTCA	0.468000			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)					104			143		5.35463e-67	7.14519e-67	1	1	0
ARID1B	57492	broad.mit.edu	37	6	157454310	157454310	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:157454310C>T	uc003qqp.3	+	6	2481	c.2481C>T	c.(2479-2481)taC>taT	p.Y827Y	ARID1B_uc003qqo.3_Silent_p.Y840Y|ARID1B_uc003qqn.3_Silent_p.Y827Y|ARID1B_uc003qqq.1_Silent_p.Y211Y	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN	Homo sapiens AT rich interactive domain 1B (SWI1-like) (ARID1B), transcript variant 1, mRNA.	827					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		GTGGGACTTACGGTCCACAGA	0.478000														23			11		0	0	1	0	0
UGT2B4	7363	broad.mit.edu	37	4	70361517	70361517	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:70361517C>T	uc003hek.4	-	0	110	c.63G>A	c.(61-63)ggG>ggA	p.G21G	UGT2B4_uc011cap.2_Intron|UGT2B4_uc003hel.4_Silent_p.G21G	NM_021139	NP_066962	P06133	UD2B4_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B4 (UGT2B4), mRNA.	21					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						TTCCACAACTCCCAGAGCTAA	0.468000														122			66		0	0	1	0	0
GLMN	11146	broad.mit.edu	37	1	92729282	92729282	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:92729282C>T	uc001dor.3	-	14	1422	c.1307G>A	c.(1306-1308)cGt>cAt	p.R436H	GLMN_uc009wdg.3_Non-coding_Transcript|GLMN_uc001dos.3_Missense_Mutation_p.R422H	NM_053274	NP_444504	Q92990	GLMN_HUMAN	Homo sapiens glomulin, FKBP associated protein (GLMN), mRNA.	436					muscle cell differentiation|negative regulation of T cell proliferation|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of phosphorylation|regulation of gene expression, epigenetic|vasculogenesis	intracellular	hepatocyte growth factor receptor binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	17		all_lung(203;0.00827)|Lung NSC(277;0.0295)		all cancers(265;0.00702)|GBM - Glioblastoma multiforme(16;0.0381)|Epithelial(280;0.0989)		TTTGTTGTTACGTGTTCTCTG	0.343000									Multiple Glomus Tumors (of the Skin), Familial					84			98		0	0	1	0	0
NBAS	51594	broad.mit.edu	37	2	15378705	15378705	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:15378705C>T	uc002rcc.1	-	44	5856	c.5830G>A	c.(5830-5832)Gct>Act	p.A1944T	NBAS_uc002rcb.1_5'UTR|NBAS_uc010exl.1_Missense_Mutation_p.A1016T|NBAS_uc002rcd.1_Non-coding_Transcript	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN	Homo sapiens neuroblastoma amplified sequence (NBAS), mRNA.	1944								p.A1944T(2)		NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						GAATCCTTAGCTTCTTGAGCT	0.413000														47			31		0	0	1	0	0
OR8H2	390151	broad.mit.edu	37	11	55872744	55872744	+	Missense_Mutation	SNP	A	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:55872744A>T	uc010riy.2	+	0	226	c.226A>T	c.(226-228)Act>Tct	p.T76S		NM_001005200	NP_001005200	Q8N162	OR8H2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily H, member 2 (OR8H2), mRNA.	76					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					CAGTTACTCAACTGTCGTCAC	0.433000										HNSCC(53;0.14)				249			146		0	0	1	0	0
LRRK2	120892	broad.mit.edu	37	12	40671969	40671969	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:40671969C>T	uc001rmg.4	+	17	2268	c.2147C>T	c.(2146-2148)gCg>gTg	p.A716V	LRRK2_uc001rmh.1_Missense_Mutation_p.A338V	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	Homo sapiens leucine-rich repeat kinase 2 (LRRK2), mRNA.	716			A -> V.		activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding	p.A716E(3)|p.R715R(1)		NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				CTAGAGAGAGCGTGTGATCAG	0.368000														114			14		0	0	1	0	0
IL31	386653	broad.mit.edu	37	12	122656969	122656969	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:122656969G>A	uc001ubv.3	-	2	512	c.485C>T	c.(484-486)gCc>gTc	p.A162V	LRRC43_uc001ubw.4_Intron|LRRC43_uc009zxl.1_Intron	NM_001014336	NP_001014358	Q6EBC2	IL31_HUMAN	Homo sapiens interleukin 31 (IL31), mRNA.	162						extracellular space	cytokine activity			central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;6.93e-05)|Breast(359;0.0544)		OV - Ovarian serous cystadenocarcinoma(86;3.27e-29)|Epithelial(86;4.86e-27)|BRCA - Breast invasive adenocarcinoma(302;0.223)		TTAAGTGGTGGCCTGTTGGGC	0.473000														52			32		0	0	1	0	0
CPZ	8532	broad.mit.edu	37	4	8616085	8616085	+	Splice_Site	SNP	G	T	T	rs139636384		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:8616085G>T	uc003glm.3	+	9	1538	c.1364_splice	c.e9-1	p.G455_splice	CPZ_uc003gll.3_Splice_Site|CPZ_uc003glo.3_Splice_Site_p.G444_splice|CPZ_uc003gln.3_Splice_Site_p.G318_splice	NM_001014447	NP_001014448	Q66K79	CBPZ_HUMAN	Homo sapiens carboxypeptidase Z (CPZ), transcript variant 1, mRNA.	455					Wnt receptor signaling pathway|proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CTGTGCCACAGGCATGTCCGA	0.627000														35			6		8.28177e-16	1.04585e-15	1	1	0
MED12	9968	broad.mit.edu	37	X	70339947	70339947	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:70339947T>C	uc004dyy.3	+	3	679	c.480T>C	c.(478-480)atT>atC	p.I160I	MED12_uc011mpq.1_Silent_p.I160I|MED12_uc004dyz.3_Silent_p.I160I|MED12_uc004dza.3_Silent_p.I7I	NM_005120	NP_005111	Q93074	MED12_HUMAN	Homo sapiens mediator complex subunit 12 (MED12), mRNA.	160					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					CCTGGCTCATTAAGATGACCT	0.478000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome							83			7		0	0	1	0	0
CC2D1B	200014	broad.mit.edu	37	1	52825168	52825168	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:52825168C>A	uc001ctq.2	-	8	1132	c.981G>T	c.(979-981)caG>caT	p.Q327H	CC2D1B_uc001ctr.3_5'Flank|CC2D1B_uc001cts.3_Missense_Mutation_p.Q18H	NM_032449	NP_115825	Q5T0F9	C2D1B_HUMAN	Homo sapiens coiled-coil and C2 domain containing 1B (CC2D1B), mRNA.	327										breast(1)|large_intestine(6)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	27						GATCCACGGGCTGCCCCTTCT	0.627000														21			10		6.40141e-05	6.99953e-05	1	1	0
PLA2G6	8398	broad.mit.edu	37	22	38516781	38516781	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:38516781T>C	uc003auy.1	-	11	1863	c.1727A>G	c.(1726-1728)gAc>gGc	p.D576G	PLA2G6_uc003auz.1_Missense_Mutation_p.D522G|PLA2G6_uc003ava.1_Missense_Mutation_p.D576G|PLA2G6_uc003avb.2_Missense_Mutation_p.D522G|PLA2G6_uc010gxk.1_Non-coding_Transcript	NM_003560	NP_003551	O60733	PA2G6_HUMAN	Homo sapiens phospholipase A2, group VI (cytosolic, calcium-independent) (PLA2G6), transcript variant 1, mRNA.	576					cardiolipin biosynthetic process|cell death|lipid catabolic process	centrosome|membrane				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24	Melanoma(58;0.045)				Quinacrine(DB01103)	TTTCCTGACGTCCGTCATCTT	0.652000														55			32		0	0	1	0	0
C21orf7	56911	broad.mit.edu	37	21	30521514	30521514	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:30521514T>C	uc002ynf.3	+	6	652	c.375T>C	c.(373-375)gaT>gaC	p.D125D	C21orf7_uc011acr.2_Non-coding_Transcript|C21orf7_uc002ynd.3_Non-coding_Transcript|C21orf7_uc010gln.3_Non-coding_Transcript|C21orf7_uc002yne.3_Silent_p.D125D|C21orf7_uc010glo.3_5'UTR|C21orf7_uc002yng.3_Silent_p.D25D|C21orf7_uc010glp.3_Non-coding_Transcript	NM_020152	NP_064537	P57077	TAK1L_HUMAN	Homo sapiens chromosome 21 open reading frame 7 (C21orf7), mRNA.	125						cytosol|nucleus	protein binding			ovary(2)|prostate(1)	3				Colorectal(56;0.248)		TTTTAGATGATACACCCCCTG	0.413000														77			34		0	0	1	0	0
CHTF18	63922	broad.mit.edu	37	16	846736	846736	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:846736C>T	uc002ckf.4	+	17	2623	c.2560C>T	c.(2560-2562)Cgc>Tgc	p.R854C	CHTF18_uc002cke.4_Missense_Mutation_p.R826C|CHTF18_uc010brf.3_Missense_Mutation_p.R408C|CHTF18_uc002ckg.4_Missense_Mutation_p.R344C	NM_022092	NP_071375	Q8WVB6	CTF18_HUMAN	Homo sapiens CTF18, chromosome transmission fidelity factor 18 homolog (S. cerevisiae) (CHTF18), mRNA.	826					DNA replication|cell cycle	nucleus	ATP binding|DNA binding|nucleoside-triphosphatase activity			endometrium(1)|kidney(3)|liver(2)|lung(4)|prostate(1)	11		Hepatocellular(780;0.00335)				GGAACTCTGCCGCTTCCCTGA	0.682000														20			4		0	0	1	0	0
GCC1	79571	broad.mit.edu	37	7	127225066	127225066	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:127225066C>A	uc003vma.3	-	0	589	c.171G>T	c.(169-171)aaG>aaT	p.K57N		NM_024523	NP_078799	Q96CN9	GCC1_HUMAN	Homo sapiens GRIP and coiled-coil domain containing 1 (GCC1), mRNA.	57						Golgi membrane|plasma membrane	protein binding			breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						CCGACAGCACCTTGATGCTGG	0.567000														94			24		2.44723e-14	3.06345e-14	1	1	0
TCHH	7062	broad.mit.edu	37	1	152085221	152085221	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:152085221G>A	uc009wne.1	-	2	744	c.472C>T	c.(472-474)Caa>Taa	p.Q158*	TCHH_uc001ezp.2_Nonsense_Mutation_p.Q158*	NM_007113	NP_009044	Q07283	TRHY_HUMAN	Homo sapiens trichohyalin (TCHH), mRNA.	158					keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGTCGCTCTTGTTTCTCACTT	0.597000														82			77		0	0	1	0	0
ASH2L	9070	broad.mit.edu	37	8	37967910	37967910	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:37967910T>C	uc003xkt.4	+	3	473	c.415T>C	c.(415-417)Ttc>Ctc	p.F139L	ASH2L_uc011lbk.2_5'UTR|ASH2L_uc003xku.4_Missense_Mutation_p.F45L|ASH2L_uc010lwa.3_Missense_Mutation_p.F45L	NM_004674	NP_004665	Q9UBL3	ASH2L_HUMAN	Homo sapiens ash2 (absent, small, or homeotic)-like (Drosophila) (ASH2L), transcript variant 1, mRNA.	139					hemopoiesis|histone H3-K4 methylation|positive regulation of cell proliferation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription from RNA polymerase II promoter	Set1C/COMPASS complex	metal ion binding|protein binding|transcription regulatory region DNA binding	p.F139L(2)		NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|stomach(1)	19	Colorectal(12;0.000501)	Lung NSC(58;0.0295)|all_lung(54;0.0413)				CTGTCTACCTTTCATGACCAA	0.408000														74			10		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179639038	179639038	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179639038C>T	uc021vsy.1	-	29	7178	c.6953G>A	c.(6952-6954)cGt>cAt	p.R2318H	TTN_uc021vsz.1_Missense_Mutation_p.R2272H|TTN_uc021vta.1_Missense_Mutation_p.R2272H|TTN_uc021vtb.1_Missense_Mutation_p.R2272H|TTN_uc002unb.2_Missense_Mutation_p.R2318H|AK123298_uc002unc.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	2318	Ig-like 12.						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)			CTGACGTCCACGACGAGATGT	0.403000														103			12		0	0	1	0	0
DBC1	1620	broad.mit.edu	37	9	121930124	121930124	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:121930124G>A	uc004bkc.2	-	7	1980	c.1524C>T	c.(1522-1524)aaC>aaT	p.N508N		NM_014618	NP_055433	O60477	DBC1_HUMAN	Homo sapiens deleted in bladder cancer 1 (DBC1), mRNA.	508					cell cycle arrest|cell death	cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						GGCGGATCTCGTTGCTGATGA	0.552000														23			17		0	0	1	0	0
ITGB6	3694	broad.mit.edu	37	2	160998528	160998528	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:160998528C>T	uc002ubh.2	-	7	1087	c.1072G>A	c.(1072-1074)Gga>Aga	p.G358R	ITGB6_uc010fow.1_Non-coding_Transcript|ITGB6_uc010fou.2_Missense_Mutation_p.G358R|ITGB6_uc010zcq.1_Missense_Mutation_p.G316R|ITGB6_uc010fov.1_Missense_Mutation_p.G358R	NM_000888	NP_000879	P18564	ITB6_HUMAN	Homo sapiens integrin, beta 6 (ITGB6), mRNA.	358	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						AGAATGTTTCCGGAGTCCTTC	0.363000														24			13		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13814920	13814920	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:13814920C>A	uc003jfd.2	-	42	7066	c.7024G>T	c.(7024-7026)Gat>Tat	p.D2342Y		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	2342	AAA 2 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CAGATGGCATCTACTGGACCA	0.398000									Kartagener syndrome					37			18		6.49762e-13	8.04122e-13	1	1	0
ZNF319	57567	broad.mit.edu	37	16	58030938	58030938	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:58030938G>A	uc002emx.1	-	1	1855	c.1232C>T	c.(1231-1233)tCt>tTt	p.S411F	ZNF319_uc021tjd.1_Missense_Mutation_p.S411F	NM_020807	NP_065858	Q9P2F9	ZN319_HUMAN	Homo sapiens zinc finger protein 319 (ZNF319), mRNA.	411					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1)	8						CAGCTCGGCAGATTGGTCAAA	0.652000														25			34		0	0	1	0	0
CSRNP3	80034	broad.mit.edu	37	2	166532972	166532972	+	Missense_Mutation	SNP	C	T	T	rs150240455		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:166532972C>T	uc002udf.3	+	5	935	c.559C>T	c.(559-561)Cgt>Tgt	p.R187C	CSRNP3_uc002udg.3_Missense_Mutation_p.R187C	NM_001172173	NP_079245	Q8WYN3	CSRN3_HUMAN	Homo sapiens cysteine-serine-rich nuclear protein 3 (CSRNP3), transcript variant 1, mRNA.	187					apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						AGCTCTGCTGCGTGCCTCTGG	0.493000														138			90		0	0	1	0	0
NSF	4905	broad.mit.edu	37	17	44788360	44788360	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:44788360G>A	uc002iku.3	+	13	1609	c.1502G>A	c.(1501-1503)aGt>aAt	p.S501N	NSF_uc010wke.2_Missense_Mutation_p.S407N|NSF_uc010wkf.2_Missense_Mutation_p.S407N|NSF_uc010wkg.2_Missense_Mutation_p.S496N	NM_006178	NP_006169	P46459	NSF_HUMAN	Homo sapiens N-ethylmaleimide-sensitive factor (NSF), transcript variant 1, mRNA.	501					protein transport|synaptic transmission	cytosol	ATP binding|metal ion binding			kidney(2)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	14		Melanoma(429;0.203)	BRCA - Breast invasive adenocarcinoma(9;0.0257)	BRCA - Breast invasive adenocarcinoma(366;0.241)		GATTATGCAAGTTACATTATG	0.413000														47			32		0	0	1	0	0
USP49	25862	broad.mit.edu	37	6	41773953	41773953	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:41773953T>C	uc003ori.3	-	3	991	c.769A>G	c.(769-771)Aac>Gac	p.N257D		NM_018561	NP_061031	Q70CQ1	UBP49_HUMAN	Homo sapiens ubiquitin specific peptidase 49 (USP49), mRNA.	257					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)|skin(2)	23	Ovarian(28;0.0919)|Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TTGCCCAGGTTGCGCAGGCCC	0.647000														39			13		0	0	1	0	0
ATXN1	6310	broad.mit.edu	37	6	16306647	16306647	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:16306647G>A	uc003nbt.3	-	8	3332	c.2361C>T	c.(2359-2361)gaC>gaT	p.D787D	ATXN1_uc010jpi.3_Silent_p.D787D|ATXN1_uc010jpj.1_Non-coding_Transcript	NM_000332	NP_001121636	P54253	ATX1_HUMAN	Homo sapiens ataxin 1 (ATXN1), transcript variant 1, mRNA.	787	Interaction with USP7.				RNA processing|cell death|negative regulation of transcription, DNA-dependent|nuclear export	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein C-terminus binding|protein binding|protein self-association			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				AAGGTGGTTCGTCTTCTGACT	0.547000														56			34		0	0	1	0	0
ZSCAN5A	79149	broad.mit.edu	37	19	56734042	56734042	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:56734042C>T	uc002qmq.3	-	3	823	c.657G>A	c.(655-657)caG>caA	p.Q219Q	ZSCAN5A_uc010ygi.2_Silent_p.Q102Q|ZSCAN5A_uc002qmr.3_Silent_p.Q219Q|ZSCAN5A_uc002qms.1_Silent_p.Q219Q	NM_024303	NP_077279	Q9BUG6	ZSA5A_HUMAN	Homo sapiens zinc finger and SCAN domain containing 5A (ZSCAN5A), mRNA.	219					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TCTCCAAGGTCTGCTTGGGTC	0.488000														50			42		0	0	1	0	0
FANCM	57697	broad.mit.edu	37	14	45605352	45605352	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:45605352G>A	uc001wwd.4	+	0	217	c.118G>A	c.(118-120)Gcg>Acg	p.A40T	FANCM_uc001wwc.2_Missense_Mutation_p.A40T|FANCM_uc010anf.3_Missense_Mutation_p.A40T|FKBP3_uc010tqf.2_5'Flank	NM_020937	NP_065988	Q8IYD8	FANCM_HUMAN	Homo sapiens Fanconi anemia, complementation group M (FANCM), mRNA.	40					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|DNA binding|chromatin binding|nuclease activity|protein binding	p.A40E(1)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						CAGCTCCAAGGCGCCTTTGCC	0.602000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia					25			15		0	0	1	0	0
CSDE1	7812	broad.mit.edu	37	1	115276643	115276643	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:115276643G>A	uc001efi.3	-	8	1338	c.816C>T	c.(814-816)ggC>ggT	p.G272G	CSDE1_uc001efj.3_Non-coding_Transcript|CSDE1_uc001efk.3_Silent_p.G226G|CSDE1_uc001efm.3_Silent_p.G241G|CSDE1_uc009wgv.3_Silent_p.G226G|CSDE1_uc001efl.3_Silent_p.G195G|CSDE1_uc001efn.3_Silent_p.G195G	NM_001242891	NP_001229820	O75534	CSDE1_HUMAN	Homo sapiens cold shock domain containing E1, RNA-binding (CSDE1), transcript variant 4, mRNA.	226					male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|RNA binding|protein binding			NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCACATCATCGCCAGGCTGTA	0.358000														46			36		0	0	1	0	0
FLRT2	23768	broad.mit.edu	37	14	86088857	86088857	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:86088857C>T	uc021rxf.1	+	0	999	c.999C>T	c.(997-999)aaC>aaT	p.N333N	FLRT2_uc001xvr.3_Silent_p.N333N|FLRT2_uc010atd.3_Silent_p.N333N	NM_013231	NP_037363	O43155	FLRT2_HUMAN	Homo sapiens fibronectin leucine rich transmembrane protein 2 (FLRT2), mRNA.	333	LRRCT.				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		CATCTCTCAACGTGCGGGGTT	0.507000														117			57		0	0	1	0	0
PKP2	5318	broad.mit.edu	37	12	33031425	33031425	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:33031425T>C	uc001rlj.4	-	2	504	c.389A>G	c.(388-390)tAc>tGc	p.Y130C	PKP2_uc001rlk.4_Missense_Mutation_p.Y130C|PKP2_uc010skj.2_Missense_Mutation_p.Y130C	NM_004572	NP_004563	Q99959	PKP2_HUMAN	Homo sapiens plakophilin 2 (PKP2), transcript variant 2b, mRNA.	130					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					CTGGGAGCTGTACTGTGCTGT	0.512000														278			17		0	0	1	0	0
HERC2	8924	broad.mit.edu	37	15	28389916	28389916	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:28389916G>A	uc001zbj.3	-	71	11149	c.11043C>T	c.(11041-11043)cgC>cgT	p.R3681R		NM_004667	NP_004658	O95714	HERC2_HUMAN	Homo sapiens hect domain and RLD 2 (HERC2), mRNA.	3681					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CCCCTGGGATGCGCAGCTCGC	0.572000														22			13		0	0	1	0	0
E2F8	79733	broad.mit.edu	37	11	19256341	19256341	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:19256341C>A	uc001mpm.3	-	4	1238	c.716G>T	c.(715-717)gGa>gTa	p.G239V	E2F8_uc009yhv.3_Non-coding_Transcript|E2F8_uc001mpn.4_Missense_Mutation_p.G239V	NM_024680	NP_078956	A0AVK6	E2F8_HUMAN	Homo sapiens E2F transcription factor 8 (E2F8), transcript variant 1, mRNA.	239					cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GTCTGGGTGTCCATTTGGGCC	0.418000														33			24		2.79863e-10	3.37315e-10	1	1	0
PAK6	56924	broad.mit.edu	37	15	40564517	40564517	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:40564517C>A	uc010bbl.3	+	5	1391	c.951C>A	c.(949-951)acC>acA	p.T317T	PAK6_uc010bbm.3_Silent_p.T317T|PAK6_uc001zky.4_Silent_p.T317T|PAK6_uc010bbn.3_Silent_p.T317T|PAK6_uc001zlb.3_Silent_p.T317T	NM_001128628	NP_064553	Q9NQU5	PAK6_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 6 (PAK6), transcript variant 2, mRNA.	317	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(2)	24		all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544)		CGGTGGGGACCTTCAGCCCTC	0.677000														78			6		0.00116845	0.00123466	1	1	0
LRRN1	57633	broad.mit.edu	37	3	3888446	3888446	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:3888446C>T	uc003bpt.4	+	1	2882	c.2121C>T	c.(2119-2121)gtC>gtT	p.V707V	SUMF1_uc003bps.2_Intron|LRRN1_uc021wsh.1_Silent_p.V707V	NM_020873	NP_065924	Q6UXK5	LRRN1_HUMAN	Homo sapiens leucine rich repeat neuronal 1 (LRRN1), mRNA.	707						integral to membrane				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		CAACCCAGGTCGACACATCCA	0.448000														15			13		0	0	1	0	0
FAM98C	147965	broad.mit.edu	37	19	38897713	38897713	+	Missense_Mutation	SNP	A	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:38897713A>T	uc002oin.1	+	6	933	c.914A>T	c.(913-915)aAc>aTc	p.N305I	FAM98C_uc002oio.1_Intron|FAM98C_uc010xtz.1_Missense_Mutation_p.Q171H	NM_174905	NP_777565	Q17RN3	FA98C_HUMAN	Homo sapiens family with sequence similarity 98, member C (FAM98C), mRNA.	305										endometrium(2)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(60;3.95e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TGTGCCATCAACAAGGTGGGC	0.597000														96			6		0	0	1	0	0
SOGA2	23255	broad.mit.edu	37	18	8824752	8824752	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:8824752T>G	uc002knr.2	+	14	3386	c.3244T>G	c.(3244-3246)Ttc>Gtc	p.F1082V	SOGA2_uc002knq.2_Missense_Mutation_p.F1041V|SOGA2_uc002kns.2_Missense_Mutation_p.F422V	NM_015210	NP_056025	Q9Y4B5	CC165_HUMAN	Homo sapiens coiled-coil domain containing 165 (CCDC165), mRNA.	1392																	CATCTCCCCCTTCCTGCCTGA	0.582000														31			3		0	0	1	0	0
TBC1D4	9882	broad.mit.edu	37	13	75911063	75911063	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:75911063G>T	uc001vjl.1	-	7	2072	c.1725C>A	c.(1723-1725)ttC>ttA	p.F575L	TBC1D4_uc010aer.2_Missense_Mutation_p.F575L|TBC1D4_uc010aes.2_Missense_Mutation_p.F575L	NM_014832	NP_055647	O60343	TBCD4_HUMAN	Homo sapiens TBC1 domain family, member 4 (TBC1D4), mRNA.	575						cytoplasm	Rab GTPase activator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		TTACCCTTGAGAAGATATTTT	0.378000														47			4		1.23904e-05	1.3743e-05	1	1	0
ABCC10	89845	broad.mit.edu	37	6	43400140	43400140	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:43400140T>C	uc003ouy.1	+	2	637	c.422T>C	c.(421-423)tTg>tCg	p.L141S	ABCC10_uc003ouz.1_Missense_Mutation_p.L98S	NM_001198934	NP_001185863	Q5T3U5	MRP7_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 10 (ABCC10), transcript variant MRP7, mRNA.	141						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			CTGGTAGCCTTGCTGCCAGCT	0.657000														42			14		0	0	1	0	0
PWWP2B	170394	broad.mit.edu	37	10	134219521	134219521	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:134219521C>T	uc001lll.4	+	1	1546	c.1517C>T	c.(1516-1518)gCg>gTg	p.A506V	PWWP2B_uc009ybe.3_Intron	NM_138499	NP_612508	Q6NUJ5	PWP2B_HUMAN	Homo sapiens PWWP domain containing 2B (PWWP2B), transcript variant 1, mRNA.	506	PWWP.									central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		TGGTGGCCGGCGCGTGTTCTT	0.597000														53			41		0	0	1	0	0
PRKDC	5591	broad.mit.edu	37	8	48715996	48715996	+	Nonsense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:48715996C>A	uc003xqi.3	-	70	9847	c.9790G>T	c.(9790-9792)Gag>Tag	p.E3264*	PRKDC_uc003xqj.3_Nonsense_Mutation_p.E3264*	NM_006904	NP_008835	P78527	PRKDC_HUMAN	Homo sapiens protein kinase, DNA-activated, catalytic polypeptide (PRKDC), transcript variant 1, mRNA.	3265	FAT.				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				GTTTTTGACTCTTTATGCAGC	0.493000								Non-homologous end-joining						92			15		1.15088e-07	1.32926e-07	1	1	0
DNAH2	146754	broad.mit.edu	37	17	7671223	7671223	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7671223C>T	uc002giu.1	+	21	3695	c.3681C>T	c.(3679-3681)ctC>ctT	p.L1227L		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	1227	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TGTAGGAGCTCGATGCCCTCC	0.602000														25			11		0	0	1	0	0
TRPV4	59341	broad.mit.edu	37	12	110232147	110232147	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:110232147G>A	uc001tpj.2	-	6	1573	c.1478C>T	c.(1477-1479)cCg>cTg	p.P493L	TRPV4_uc001tpg.2_Missense_Mutation_p.P459L|TRPV4_uc021rdp.1_Missense_Mutation_p.P433L|TRPV4_uc001tph.2_Missense_Mutation_p.P446L|TRPV4_uc001tpi.2_Missense_Mutation_p.P386L|TRPV4_uc001tpk.2_Missense_Mutation_p.P493L	NM_021625	NP_067638	Q9HBA0	TRPV4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 4 (TRPV4), transcript variant 1, mRNA.	493					actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	SH2 domain binding|actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						GCCCTCCAGCGGCTGGTAGTA	0.642000														37			6		0	0	1	0	0
BORA	79866	broad.mit.edu	37	13	73320902	73320902	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:73320902G>A	uc010aen.1	+	9	1507	c.1360G>A	c.(1360-1362)Gat>Aat	p.D454N	BORA_uc010thq.1_Missense_Mutation_p.D154N|BORA_uc001viv.1_Missense_Mutation_p.D379N|BORA_uc010thr.1_Missense_Mutation_p.D309N	NM_024808	NP_079084	Q6PGQ7	BORA_HUMAN	Homo sapiens bora, aurora kinase A activator (BORA), mRNA.	379					cell division|mitosis|regulation of mitosis|regulation of mitotic spindle organization|regulation of protein localization		protein kinase binding										ACCCGCCATGGATGCTGCTGG	0.443000														49			29		0	0	1	0	0
TNFRSF11B	4982	broad.mit.edu	37	8	119936679	119936679	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:119936679C>T	uc003yon.4	-	4	1463	c.1140G>A	c.(1138-1140)ttG>ttA	p.L380L		NM_002546	NP_002537	O00300	TR11B_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 11b (TNFRSF11B), mRNA.	380					apoptosis|skeletal system development		cytokine activity|receptor activity			breast(1)|central_nervous_system(3)|endometrium(4)|large_intestine(6)|lung(7)|prostate(3)|skin(1)	25	all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00193)			ACTTCTGATACAATTTGTACA	0.383000														95			57		0	0	1	0	0
ASPA	443	broad.mit.edu	37	17	3379573	3379573	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:3379573G>T	uc010ckg.3	+	1	211	c.120G>T	c.(118-120)gaG>gaT	p.E40D	SPATA22_uc010vrg.2_Intron|ASPA_uc002fvq.3_Missense_Mutation_p.E40D	NM_001128085	NP_001121557	P45381	ACY2_HUMAN	Homo sapiens aspartoacylase (ASPA), transcript variant 2, mRNA.	40					aspartate catabolic process	cytoplasm|nucleus	aminoacylase activity|aspartoacylase activity|hydrolase activity, acting on ester bonds|metal ion binding			breast(2)|endometrium(2)|large_intestine(6)|lung(5)|stomach(1)|urinary_tract(1)	17					L-Aspartic Acid(DB00128)	ATGGCGCTGAGATTCAGAGAA	0.428000														98			59		1.27334e-21	1.64983e-21	1	1	0
NEMF	9147	broad.mit.edu	37	14	50295879	50295879	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:50295879C>T	uc010anj.1	-	12	1193	c.1125G>A	c.(1123-1125)tgG>tgA	p.W375*	NEMF_uc001wxc.3_Nonsense_Mutation_p.W375*|NEMF_uc010tqi.2_Nonsense_Mutation_p.W375*|NEMF_uc001wxe.2_Nonsense_Mutation_p.W333*|NEMF_uc001wxd.1_5'UTR|NEMF_uc010anq.1_Nonsense_Mutation_p.W146*	NM_004713	NP_004704	O60524	NEMF_HUMAN	Homo sapiens nuclear export mediator factor (NEMF), mRNA.	375						cytoplasm|nucleus				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(13)|liver(1)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	36						CAATTTCTGTCCAATCTATCT	0.388000														99			50		0	0	1	0	0
PDCD4	27250	broad.mit.edu	37	10	112641242	112641242	+	Missense_Mutation	SNP	T	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:112641242T>A	uc001kzh.3	+	2	581	c.295T>A	c.(295-297)Ttg>Atg	p.L99M	PDCD4_uc001kzg.3_Missense_Mutation_p.L88M|PDCD4_uc010qre.2_Missense_Mutation_p.L85M	NM_014456	NP_055271	Q53EL6	PDCD4_HUMAN	Homo sapiens programmed cell death 4 (neoplastic transformation inhibitor) (PDCD4), transcript variant 1, mRNA.	99					apoptosis|cell aging|negative regulation of JUN kinase activity|negative regulation of cell cycle|negative regulation of transcription, DNA-dependent	cytosol|nucleus	RNA binding|protein binding			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	13		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.000526)|all cancers(201;0.00794)|BRCA - Breast invasive adenocarcinoma(275;0.125)		AAAGGGAAGGTTGCTGGATAG	0.483000														43			24		0	0	1	0	0
MSH3	4437	broad.mit.edu	37	5	79952298	79952298	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:79952298G>T	uc003kgz.3	+	1	559	c.306G>T	c.(304-306)aaG>aaT	p.K102N	DHFR_uc003kgy.1_5'Flank|DHFR_uc011ctl.2_5'Flank|DHFR_uc011ctm.2_5'Flank|DHFR_uc010jap.2_5'Flank	NM_002439	NP_002430	P20585	MSH3_HUMAN	Homo sapiens mutS homolog 3 (E. coli) (MSH3), mRNA.	102	Interaction with EXO1.				maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|Y-form DNA binding|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		AGAAAGTAAAGAAAGTCCAAC	0.408000								Mismatch excision repair (MMR)						40			26		1.66031e-10	2.00663e-10	1	1	0
SCD5	79966	broad.mit.edu	37	4	83557907	83557907	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:83557907T>C	uc003hna.2	-	3	959	c.639A>G	c.(637-639)ggA>ggG	p.G213G		NM_001037582	NP_001032671	Q86SK9	SCD5_HUMAN	Homo sapiens stearoyl-CoA desaturase 5 (SCD5), transcript variant 1, mRNA.	213					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	iron ion binding|stearoyl-CoA 9-desaturase activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	13		Colorectal(4;0.0323)|Hepatocellular(203;0.115)				ACAGACTCTCTCCCCAGATGT	0.527000														27			6		0	0	1	0	0
LSM11	134353	broad.mit.edu	37	5	157181872	157181872	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:157181872G>A	uc003lxe.1	+	3	687	c.683G>A	c.(682-684)cGg>cAg	p.R228Q	LSM11_uc003lxf.1_5'Flank	NM_173491	NP_775762	P83369	LSM11_HUMAN	Homo sapiens LSM11, U7 small nuclear RNA associated (LSM11), mRNA.	228					S phase of mitotic cell cycle|histone mRNA 3'-end processing|termination of RNA polymerase II transcription	U7 snRNP|histone pre-mRNA 3'end processing complex|nucleoplasm	U7 snRNA binding|protein binding			breast(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	7	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CTATTTGATCGGCTGAAACTT	0.368000														34			25		0	0	1	0	0
FAM213A	84293	broad.mit.edu	37	10	82180237	82180237	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:82180237A>G	uc021pux.1	+	1	144	c.14A>G	c.(13-15)cAg>cGg	p.Q5R	FAM213A_uc001kcc.4_Missense_Mutation_p.Q5R|FAM213A_uc001kcd.4_Splice_Site|FAM213A_uc001kcf.4_Missense_Mutation_p.Q5R|FAM213A_uc001kce.4_Missense_Mutation_p.Q5R|FAM213A_uc021puy.1_Splice_Site_p.D2_splice	NM_001243779	NP_001230708	Q9BRX8	CJ058_HUMAN	Homo sapiens chromosome 10 open reading frame 58 (C10orf58), transcript variant 3, mRNA.	5						extracellular region											TCTTTCCTCCAGGACCCAAGT	0.542000														63			7		0	0	1	0	0
DYM	54808	broad.mit.edu	37	18	46956757	46956757	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:46956757G>A	uc002ldi.1	-	1	373	c.8C>T	c.(7-9)tCg>tTg	p.S3L	DYM_uc010xdf.1_Missense_Mutation_p.S3L	NM_017653	NP_060123	Q7RTS9	DYM_HUMAN	Homo sapiens dymeclin (DYM), mRNA.	3						Golgi apparatus				NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	18						GCTGCTATTCGATCCCATCTT	0.348000														57			39		0	0	1	0	0
DNAH1	25981	broad.mit.edu	37	3	52398885	52398885	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52398885G>A	uc011bef.2	+	33	5629	c.5368G>A	c.(5368-5370)Gtg>Atg	p.V1790M		NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA.	1790					ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TGATGTGAACGTGCCCAAGTT	0.632000														27			12		0	0	1	0	0
ABCA6	23460	broad.mit.edu	37	17	67130869	67130869	+	Nonsense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:67130869C>A	uc002jhw.1	-	4	650	c.475G>T	c.(475-477)Gga>Tga	p.G159*		NM_080284	NP_525023	Q8N139	ABCA6_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 6 (ABCA6), mRNA.	159					transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					TCACCATATCCATCCCAGCAA	0.378000														55			6		0.217242	0.21859	1	1	0
ASH2L	9070	broad.mit.edu	37	8	37985945	37985945	+	Silent	SNP	C	T	T	rs145960167	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:37985945C>T	uc003xkt.4	+	10	1360	c.1302C>T	c.(1300-1302)acC>acT	p.T434T	ASH2L_uc011lbk.2_Silent_p.T295T|ASH2L_uc003xku.4_Silent_p.T340T|ASH2L_uc010lwa.3_Silent_p.T340T	NM_004674	NP_004665	Q9UBL3	ASH2L_HUMAN	Homo sapiens ash2 (absent, small, or homeotic)-like (Drosophila) (ASH2L), transcript variant 1, mRNA.	434	B30.2/SPRY.				hemopoiesis|histone H3-K4 methylation|positive regulation of cell proliferation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription from RNA polymerase II promoter	Set1C/COMPASS complex	metal ion binding|protein binding|transcription regulatory region DNA binding			NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|stomach(1)	19	Colorectal(12;0.000501)	Lung NSC(58;0.0295)|all_lung(54;0.0413)				CACCAGATACCGCTGCCAGAC	0.532000														25			14		0	0	1	0	0
PRPF39	55015	broad.mit.edu	37	14	45571854	45571854	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:45571854G>A	uc001wvz.4	+	4	862	c.692G>A	c.(691-693)cGt>cAt	p.R231H	PRPF39_uc001wvy.4_Missense_Mutation_p.R110H|PRPF39_uc010and.3_Missense_Mutation_p.R21H	NM_017922	NP_060392	Q86UA1	PRP39_HUMAN	Homo sapiens PRP39 pre-mRNA processing factor 39 homolog (S. cerevisiae) (PRPF39), mRNA.	231					RNA splicing|mRNA processing	nucleus	binding			breast(2)|endometrium(2)|kidney(4)|lung(3)|ovary(1)	12						ATATATGATCGTATTCTTGGT	0.388000														107			82		0	0	1	0	0
GON4L	54856	broad.mit.edu	37	1	155735951	155735951	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155735951G>T	uc001flz.2	-	20	3410	c.3313C>A	c.(3313-3315)Ctt>Att	p.L1105I	GON4L_uc021paz.1_Intron|GON4L_uc009wrg.1_Non-coding_Transcript|GON4L_uc001fly.1_Missense_Mutation_p.L1105I|GON4L_uc009wrh.1_Missense_Mutation_p.L1105I|GON4L_uc001fma.1_Missense_Mutation_p.L1105I|GON4L_uc001fmb.4_Missense_Mutation_p.L301I|GON4L_uc001fmc.3_Missense_Mutation_p.L1105I|GON4L_uc001fmd.4_Missense_Mutation_p.L1105I|GON4L_uc009wri.3_Missense_Mutation_p.L691I	NM_001037533	NP_001032622	Q3T8J9	GON4L_HUMAN	Homo sapiens gon-4-like (C. elegans) (GON4L), transcript variant 1, mRNA.	1105					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					GAAGGGGCAAGGGAGGGCAGC	0.557000														95			7		0.00198382	0.00208369	1	1	0
RET	5979	broad.mit.edu	37	10	43615023	43615023	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:43615023C>T	uc001jal.3	+	13	2627	c.2437C>T	c.(2437-2439)Cgg>Tgg	p.R813W	RET_uc001jak.1_Missense_Mutation_p.R813W|RET_uc010qez.1_Missense_Mutation_p.R559W	NM_020975	NP_066124	P07949	RET_HUMAN	Homo sapiens ret proto-oncogene (RET), transcript variant 2, mRNA.	813	Protein kinase.		R -> Q (in HSCR1; sporadic form).		homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	CGGCTCCCTGCGGGGCTTCCT	0.701000		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma					14			7		0	0	1	0	0
SYT17	51760	broad.mit.edu	37	16	19194972	19194972	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:19194972G>A	uc002dfw.3	+	4	785	c.454G>A	c.(454-456)Gac>Aac	p.D152N	SYT17_uc002dfx.3_Missense_Mutation_p.D91N|SYT17_uc002dfy.3_Missense_Mutation_p.D148N	NM_016524	NP_057608	Q9BSW7	SYT17_HUMAN	Homo sapiens synaptotagmin XVII (SYT17), mRNA.	152						membrane|synaptic vesicle	transporter activity			NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	17						TAACCCCGACGACTATTTCAG	0.537000														35			27		0	0	1	0	0
ALDH1A3	220	broad.mit.edu	37	15	101425524	101425524	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:101425524C>T	uc002bwn.4	+	1	256	c.152C>T	c.(151-153)aCa>aTa	p.T51I	ALDH1A3_uc010bpb.3_Missense_Mutation_p.T51I	NM_000693	NP_000684	P47895	AL1A3_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member A3 (ALDH1A3), mRNA.	51					retinal metabolic process	cytoplasm	aldehyde dehydrogenase|protein homodimerization activity			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(7)|lung(9)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	27	Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		NADH(DB00157)|Vitamin A(DB00162)	AAGTTTGCTACATGTAACCCT	0.338000														41			24		0	0	1	0	0
GRM5	2915	broad.mit.edu	37	11	88323889	88323889	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:88323889G>A	uc001pcq.3	-	5	1770	c.1570C>T	c.(1570-1572)Cga>Tga	p.R524*	GRM5_uc009yvm.3_Nonsense_Mutation_p.R524*	NM_001143831	NP_001137303	P41594	GRM5_HUMAN	Homo sapiens glutamate receptor, metabotropic 5 (GRM5), transcript variant a, mRNA.	524					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	TCTCCCTTTCGGATCACCTAA	0.388000														72			45		0	0	1	0	0
RECK	8434	broad.mit.edu	37	9	36121545	36121545	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:36121545C>T	uc003zyv.3	+	19	2640	c.2554C>T	c.(2554-2556)Cca>Tca	p.P852S	RECK_uc003zyw.3_Missense_Mutation_p.P724S|RECK_uc003zyx.3_Non-coding_Transcript	NM_021111	NP_066934	O95980	RECK_HUMAN	Homo sapiens reversion-inducing-cysteine-rich protein with kazal motifs (RECK), mRNA.	852						anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane	metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			AAATAAAAAGCCAATAACAGT	0.403000														54			24		0	0	1	0	0
TBCEL	219899	broad.mit.edu	37	11	120930770	120930770	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:120930770T>G	uc001pxo.3	+	6	1137	c.932T>G	c.(931-933)gTt>gGt	p.V311G	TBCEL_uc009zay.3_Missense_Mutation_p.V311G|TBCEL_uc001pxp.3_Missense_Mutation_p.V167G|TBCEL_uc001pxq.3_Non-coding_Transcript	NM_152715	NP_689928	Q5QJ74	TBCEL_HUMAN	Homo sapiens tubulin folding cofactor E-like (TBCEL), transcript variant 1, mRNA.	311						cytoplasm|cytoskeleton			TECTA/TBCEL(2)	endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14		Breast(109;0.00526)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.89e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.121)		TATGTGGATGTTCCACAGGAA	0.398000														49			10		0	0	1	0	0
NCAPH2	29781	broad.mit.edu	37	22	50956563	50956563	+	Splice_Site	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:50956563C>T	uc003blx.4	+	7	623	c.501_splice	c.e7-1	p.S167_splice	NCAPH2_uc003blq.4_Splice_Site_p.S167_splice|NCAPH2_uc003blv.3_Splice_Site_p.S167_splice|NCAPH2_uc003blr.4_Splice_Site_p.S167_splice	NM_001185011	NP_001171940	Q6IBW4	CNDH2_HUMAN	Homo sapiens non-SMC condensin II complex, subunit H2 (NCAPH2), transcript variant 3, mRNA.	167					chromosome condensation	chromosome|nucleus				breast(1)|cervix(1)|endometrium(2)|kidney(3)|lung(10)|ovary(1)|prostate(2)|skin(3)|stomach(1)	24		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.212)		CCAGCACAGCCGTCAGGGTGA	0.622000														21			12		0	0	1	0	0
IQGAP2	10788	broad.mit.edu	37	5	75967619	75967619	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:75967619G>A	uc003kek.3	+	23	3101	c.2879G>A	c.(2878-2880)gGt>gAt	p.G960D	IQGAP2_uc010izv.2_Missense_Mutation_p.G513D|IQGAP2_uc011csv.2_Missense_Mutation_p.G456D|IQGAP2_uc003kel.3_Missense_Mutation_p.G456D|IQGAP2_uc010izw.1_5'Flank	NM_006633	NP_006624	Q13576	IQGA2_HUMAN	Homo sapiens IQ motif containing GTPase activating protein 2 (IQGAP2), mRNA.	960	Ras-GAP.				small GTPase mediated signal transduction	actin cytoskeleton	GTPase inhibitor activity|Ras GTPase activator activity|actin binding|calmodulin binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		ATAGTTACTGGTAACCCTACA	0.433000														34			25		0	0	1	0	0
HOXA7	3204	broad.mit.edu	37	7	27194841	27194841	+	Splice_Site	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:27194841C>T	uc003sys.3	-	2	512	c.380_splice	c.e2-1	p.G127_splice	HOXA-AS3_uc003syr.2_3'UTR|HOXA-AS3_uc003syp.2_3'UTR|HOXA6_uc003syq.1_5'Flank	NM_006896	NP_008827	P31268	HXA7_HUMAN	Homo sapiens homeobox A7 (HOXA7), mRNA.	127					angiogenesis|negative regulation of cell-matrix adhesion|negative regulation of keratinocyte differentiation|negative regulation of leukocyte migration|negative regulation of monocyte differentiation|negative regulation of transcription from RNA polymerase II promoter		sequence-specific DNA binding|transcription factor binding			endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|urinary_tract(1)	16						CCTGTCAGGTCCTGAGAACAG	0.617000														35			34		0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105411331	105411331	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:105411331G>A	uc010axc.1	-	6	10577	c.10457C>T	c.(10456-10458)tCg>tTg	p.S3486L	AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.S3386L	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	3486						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GCCTGGGGCCGACACCCCGAA	0.627000														132			84		0	0	1	0	0
ZNF775	285971	broad.mit.edu	37	7	150094418	150094418	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:150094418C>T	uc003whf.1	+	2	974	c.849C>T	c.(847-849)tgC>tgT	p.C283C		NM_173680	NP_775951	Q96BV0	ZN775_HUMAN	Homo sapiens zinc finger protein 775 (ZNF775), mRNA.	283					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.I282M(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(7)|skin(1)	11	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.0173)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGTTCATCTGCAACGAGTGTG	0.741000														25			4		0	0	1	0	0
MBOAT2	129642	broad.mit.edu	37	2	8998833	8998833	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:8998833C>T	uc002qzg.1	-	12	1672	c.1539G>A	c.(1537-1539)tcG>tcA	p.S513S		NM_138799	NP_620154	Q6ZWT7	MBOA2_HUMAN	Homo sapiens membrane bound O-acyltransferase domain containing 2 (MBOAT2), mRNA.	513					phospholipid biosynthetic process	integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity		MBOAT2/PRKCE(2)	endometrium(2)|kidney(1)|large_intestine(9)|lung(2)|skin(1)	15	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					ATGAATGTCTCGAGGCTATTT	0.373000														51			39		0	0	1	0	0
NIPBL	25836	broad.mit.edu	37	5	37048693	37048693	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:37048693G>T	uc003jkl.4	+	38	7178	c.6679G>T	c.(6679-6681)Gtc>Ttc	p.V2227F	NIPBL_uc003jkk.4_Missense_Mutation_p.V2227F|NIPBL_uc003jkn.3_5'Flank	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	Homo sapiens Nipped-B homolog (Drosophila) (NIPBL), transcript variant A, mRNA.	2227					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			GAACTCCTCAGTCAATTTAAA	0.343000														40			19		2.35188e-11	2.87337e-11	1	1	0
AMHR2	269	broad.mit.edu	37	12	53819521	53819521	+	Nonsense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:53819521G>T	uc001scx.2	+	5	750	c.670G>T	c.(670-672)Gga>Tga	p.G224*	AMHR2_uc009zmy.2_Nonsense_Mutation_p.G224*|AMHR2_uc021qyg.1_Nonsense_Mutation_p.G224*	NM_020547	NP_065434	Q16671	AMHR2_HUMAN	Homo sapiens anti-Mullerian hormone receptor, type II (AMHR2), transcript variant 1, mRNA.	224	Protein kinase.				Mullerian duct regression		ATP binding|hormone binding|metal ion binding			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34					Adenosine triphosphate(DB00171)	GCAGCTGCAAGGAAAACTGGT	0.577000														15			11		0.000978159	0.00103832	1	1	0
ASH1L	55870	broad.mit.edu	37	1	155311800	155311800	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155311800C>T	uc009wqq.3	-	24	8882	c.8402G>A	c.(8401-8403)cGc>cAc	p.R2801H	ASH1L_uc001fkt.3_Missense_Mutation_p.R2796H	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	Homo sapiens ash1 (absent, small, or homeotic)-like (Drosophila) (ASH1L), mRNA.	2801					DNA packaging|cell-cell signaling|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|chromosome|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			GACAGGATAGCGGTTCCGGTG	0.463000														100			60		0	0	1	0	0
SPAG17	200162	broad.mit.edu	37	1	118634612	118634612	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:118634612G>A	uc001ehk.2	-	8	1255	c.1187C>T	c.(1186-1188)gCt>gTt	p.A396V		NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	Homo sapiens sperm associated antigen 17 (SPAG17), mRNA.	396						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		AGCTGGTACAGCAGGTTGTGG	0.463000														236			13		0	0	1	0	0
CXorf21	80231	broad.mit.edu	37	X	30577669	30577669	+	Missense_Mutation	SNP	T	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:30577669T>A	uc022bui.1	-	0	804	c.804A>T	c.(802-804)agA>agT	p.R268S	CXorf21_uc004dcg.2_Missense_Mutation_p.R268S	NM_025159	NP_079435	Q9HAI6	CX021_HUMAN	Homo sapiens chromosome X open reading frame 21 (CXorf21), mRNA.	268										kidney(1)|large_intestine(3)|lung(13)|ovary(1)|stomach(1)|urinary_tract(1)	20						AGACTATATCTCTGGCTTTTG	0.403000														92			10		0	0	1	0	0
SLC26A4	5172	broad.mit.edu	37	7	107323797	107323797	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:107323797G>A	uc003vep.3	+	6	1140	c.916G>A	c.(916-918)Gtg>Atg	p.V306M		NM_000441	NP_000432	O43511	S26A4_HUMAN	Homo sapiens solute carrier family 26, member 4 (SLC26A4), mRNA.	306					regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity	p.V306V(1)		central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						AGAAGTAATTGTGGTAAGTAG	0.338000									Pendred syndrome					119			35		0	0	1	0	0
C10orf68	79741	broad.mit.edu	37	10	33137576	33137576	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:33137576C>A	uc001iwm.1	+	17	1802	c.1566C>A	c.(1564-1566)atC>atA	p.I522I	C10orf68_uc001iwl.1_Silent_p.I477I|C10orf68_uc001iwn.4_Silent_p.I518I|C10orf68_uc010qei.1_Silent_p.I494I|C10orf68_uc001iwo.4_Non-coding_Transcript	NM_024688	NP_078964	Q9H943	CJ068_HUMAN	Homo sapiens chromosome 10 open reading frame 68 (C10orf68), mRNA.	518										breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						AAGAAGGTATCTTTACTAGGA	0.279000														76			7		0.0293803	0.0299714	1	1	0
RP11-165H20.1	149620	broad.mit.edu	37	1	111825270	111825270	+	RNA	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:111825270A>G	uc009wgb.3	+	2		c.1033A>G								Homo sapiens CHIA-like pseudogene (RP11-165H20.1), non-coding RNA.																		CGCCAGTATGAGTTTGACGGG	0.527000														60			4		0	0	1	0	0
NRP1	8829	broad.mit.edu	37	10	33481304	33481304	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:33481304G>T	uc001iwx.4	-	12	2490	c.1967C>A	c.(1966-1968)tCt>tAt	p.S656Y	NRP1_uc001iwv.4_Missense_Mutation_p.S656Y|NRP1_uc001iwy.4_Missense_Mutation_p.S649Y|NRP1_uc009xlz.3_Missense_Mutation_p.S649Y|NRP1_uc001iww.4_Missense_Mutation_p.S468Y	NM_003873	NP_003864	O14786	NRP1_HUMAN	Homo sapiens neuropilin 1 (NRP1), transcript variant 1, mRNA.	656	MAM.				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	GGTCTTGTGAGAGCCCCAGCC	0.453000														214			108		2.11273e-47	2.81441e-47	1	1	0
PLEK	5341	broad.mit.edu	37	2	68609737	68609737	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:68609737C>T	uc002sen.4	+	3	606	c.444C>T	c.(442-444)gaC>gaT	p.D148D	PLEK_uc010fde.3_Silent_p.D148D	NM_002664	NP_002655	P08567	PLEK_HUMAN	Homo sapiens pleckstrin (PLEK), mRNA.	148	DEP.				actin cytoskeleton reorganization|cortical actin cytoskeleton organization|hemopoietic progenitor cell differentiation|inhibition of phospholipase C activity involved in G-protein coupled receptor signaling pathway|integrin-mediated signaling pathway|negative regulation of calcium-mediated signaling|negative regulation of inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|platelet aggregation|positive regulation of actin filament bundle assembly|positive regulation of actin filament depolymerization|positive regulation of inositol-polyphosphate 5-phosphatase activity|positive regulation of integrin activation|positive regulation of platelet activation|protein kinase C signaling cascade|protein secretion by platelet|regulation of cell diameter|ruffle organization|thrombin receptor signaling pathway|vesicle docking involved in exocytosis	cytosol|extracellular region|membrane fraction|ruffle membrane|soluble fraction	phosphatidylinositol-3,4-bisphosphate binding|protein homodimerization activity|protein kinase C binding			autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	24		Ovarian(717;0.0129)		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)		TAGAGAAGGACAAGAAGATTT	0.413000														82			36		0	0	1	0	0
SMARCE1	6605	broad.mit.edu	37	17	38786991	38786991	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:38786991G>A	uc002hux.2	-	9	1126	c.1002C>T	c.(1000-1002)gaC>gaT	p.D334D	SMARCE1_uc010wff.1_Silent_p.D299D|SMARCE1_uc010wfg.1_Silent_p.D264D|SMARCE1_uc002huy.2_Silent_p.D299D|SMARCE1_uc010wfh.1_Silent_p.D264D|SMARCE1_uc010wfi.1_Silent_p.D316D	NM_003079	NP_003070	Q969G3	SMCE1_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 (SMARCE1), mRNA.	334	Glu-rich.				chromatin modification|negative regulation of transcription, DNA-dependent|nervous system development|nucleosome disassembly|regulation of transcription from RNA polymerase II promoter	SWI/SNF complex|nBAF complex|npBAF complex|nuclear chromosome|transcriptional repressor complex	DNA binding|N-acetyltransferase activity|chromatin binding|protein N-terminus binding|protein binding|transcription coactivator activity			large_intestine(1)	1		Breast(137;0.000812)				TGTTCTCGTCGTCTTTCTTCT	0.498000														153			70		0	0	1	0	0
OR5AK2	390181	broad.mit.edu	37	11	56756428	56756428	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:56756428C>A	uc010rjp.2	+	0	40	c.40C>A	c.(40-42)Ctt>Att	p.L14I		NM_001005323	NP_001005323	Q8NH90	O5AK2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AK, member 2 (OR5AK2), mRNA.	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						TGAATTCTATCTTCTGGGATT	0.403000														92			101		1.85599e-38	2.46476e-38	1	1	0
ASIC5	51802	broad.mit.edu	37	4	156757855	156757855	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:156757855G>A	uc003ipe.1	-	7	1268	c.1221C>T	c.(1219-1221)agC>agT	p.S407S		NM_017419	NP_059115	Q9NY37	ACCN5_HUMAN	Homo sapiens amiloride-sensitive cation channel 5, intestinal (ACCN5), mRNA.	407						integral to membrane|plasma membrane											TGTATTTCCGGCTTTGATTCA	0.318000														41			36		0	0	1	0	0
KLK4	9622	broad.mit.edu	37	19	51412622	51412622	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:51412622C>T	uc002pua.1	-	1	110	c.110G>A	c.(109-111)tGc>tAc	p.C37Y	KLK4_uc002pty.1_5'UTR|KLK4_uc002ptz.1_Non-coding_Transcript|KLK4_uc002pub.1_5'UTR|KLK4_uc002puc.1_Non-coding_Transcript|KLK4_uc010eoi.1_5'UTR|KLK4_uc002pud.1_5'Flank	NM_004917	NP_004908	Q9Y5K2	KLK4_HUMAN	Homo sapiens kallikrein-related peptidase 4 (KLK4), mRNA.	37	Peptidase S1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity	p.D36G(1)		autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(8)	19		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00624)|GBM - Glioblastoma multiforme(134;0.00878)		GTGCGGGCTGCAGTCCTCGCC	0.642000														210			12		0	0	1	0	0
PLRG1	5356	broad.mit.edu	37	4	155468979	155468979	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:155468979A>C	uc003iny.3	-	2	268	c.143T>G	c.(142-144)cTt>cGt	p.L48R	PLRG1_uc003inz.3_Missense_Mutation_p.L48R|PLRG1_uc011cil.2_5'UTR	NM_002669	NP_002660	O43660	PLRG1_HUMAN	Homo sapiens pleiotropic regulator 1 (PLRG1), transcript variant 1, mRNA.	48						catalytic step 2 spliceosome|nuclear speck	protein binding|signal transducer activity|transcription corepressor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|skin(1)|urinary_tract(1)	22	all_hematologic(180;0.215)	Renal(120;0.0854)				CTCATTACGAAGCTTGATTGC	0.333000														53			7		0	0	1	0	0
PTPRS	5802	broad.mit.edu	37	19	5210574	5210574	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:5210574C>T	uc002mbv.3	-	34	5627	c.5393G>A	c.(5392-5394)cGc>cAc	p.R1798H	PTPRS_uc002mbu.1_Missense_Mutation_p.R1367H|PTPRS_uc010xin.2_Missense_Mutation_p.R1340H|PTPRS_uc002mbw.3_Missense_Mutation_p.R1760H|PTPRS_uc002mbx.3_Missense_Mutation_p.R1355H|PTPRS_uc002mby.3_Missense_Mutation_p.R1351H	NM_002850	NP_002841	Q13332	PTPRS_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, S (PTPRS), transcript variant 1, mRNA.	1798	Tyrosine-protein phosphatase 2.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		GCGGGCAGAGCGCTCGGCCGG	0.597000														39			8		0	0	1	0	0
GUF1	60558	broad.mit.edu	37	4	44682469	44682469	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:44682469C>T	uc003gww.4	+	1	384	c.177C>T	c.(175-177)gaC>gaT	p.D59D	GUF1_uc010ifz.1_Intron	NM_021927	NP_068746	Q8N442	GUF1_HUMAN	Homo sapiens GUF1 GTPase homolog (S. cerevisiae) (GUF1), mRNA.	59					translation	mitochondrial inner membrane	GTP binding|GTPase activity	p.L58P(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19						AAAAACTTGACATGTCTAGGT	0.338000														13			4		0	0	1	0	0
ACSL1	2180	broad.mit.edu	37	4	185684330	185684330	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:185684330G>A	uc003iww.2	-	15	1806	c.1512C>T	c.(1510-1512)ggC>ggT	p.G504G	ACSL1_uc011ckm.1_Silent_p.G333G|ACSL1_uc003iwt.1_Silent_p.G504G|ACSL1_uc003iwu.1_Silent_p.G504G|ACSL1_uc011ckn.1_Silent_p.G470G|ACSL1_uc003iws.1_Silent_p.G74G	NM_001995	NP_001986	P33121	ACSL1_HUMAN	Homo sapiens acyl-CoA synthetase long-chain family member 1 (ACSL1), mRNA.	504					digestion|fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|regulation of fatty acid oxidation|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CCTCGCCCTCGCCCTCGGCAG	0.478000														23			12		0	0	1	0	0
CPZ	8532	broad.mit.edu	37	4	8609139	8609139	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:8609139C>T	uc003glm.3	+	6	1388	c.1214C>T	c.(1213-1215)aCg>aTg	p.T405M	CPZ_uc003gll.3_Non-coding_Transcript|CPZ_uc003glo.3_Missense_Mutation_p.T394M|CPZ_uc003gln.3_Missense_Mutation_p.T268M	NM_001014447	NP_001014448	Q66K79	CBPZ_HUMAN	Homo sapiens carboxypeptidase Z (CPZ), transcript variant 1, mRNA.	405					Wnt receptor signaling pathway|proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TTTTCTCCCACGCCCGACGAG	0.632000											OREG0016100	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		18			5		0	0	1	0	0
GPC3	2719	broad.mit.edu	37	X	132887606	132887606	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:132887606C>A	uc010nrn.2	-	2	1132	c.935G>T	c.(934-936)aGa>aTa	p.R312I	GPC3_uc004exe.2_Missense_Mutation_p.R312I|GPC3_uc011mvh.2_Missense_Mutation_p.R296I|GPC3_uc010nro.2_Missense_Mutation_p.R258I|GPC3_uc010nrp.2_Missense_Mutation_p.R184I	NM_001164617	NP_001158089	P51654	GPC3_HUMAN	Homo sapiens glypican 3 (GPC3), transcript variant 1, mRNA.	312						extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2)	36	Acute lymphoblastic leukemia(192;0.000127)					GTCATAGATTCTGTACATGCC	0.443000			"""T, D, Mis, N, F, S"""			Wilms tumour			Simpson-Golabi-Behmel syndrome					136			12		0.00010058	0.000109296	1	1	0
SLC7A4	6545	broad.mit.edu	37	22	21384352	21384352	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:21384352C>T	uc002zud.3	-	2	1339	c.1271G>A	c.(1270-1272)gGc>gAc	p.G424D	SLC7A4_uc002zue.3_Missense_Mutation_p.G424D	NM_004173	NP_004164	O43246	CTR4_HUMAN	Homo sapiens solute carrier family 7 (orphan transporter), member 4 (SLC7A4), mRNA.	424					cellular amino acid metabolic process	integral to membrane	basic amino acid transmembrane transporter activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(2)	18	all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	GCTGGCTGGGCCTGGGGAGCT	0.632000														7			6		0	0	1	0	0
EDC4	23644	broad.mit.edu	37	16	67914878	67914878	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:67914878G>A	uc002eur.3	+	17	2755	c.2516G>A	c.(2515-2517)aGc>aAc	p.S839N	EDC4_uc010cer.3_Missense_Mutation_p.S458N|EDC4_uc002eus.3_Missense_Mutation_p.S569N|EDC4_uc002eut.1_5'Flank	NM_014329	NP_055144	Q6P2E9	EDC4_HUMAN	Homo sapiens enhancer of mRNA decapping 4 (EDC4), mRNA.	839					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	p.C838C(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		GAGACCTGCAGCACCCTGGCA	0.582000														52			32		0	0	1	0	0
WDR36	134430	broad.mit.edu	37	5	110428061	110428061	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:110428061C>T	uc003kpd.3	+	0	192	c.75C>T	c.(73-75)ctC>ctT	p.L25L	WDR36_uc010jbu.3_Non-coding_Transcript	NM_139281	NP_644810	Q8NI36	WDR36_HUMAN	Homo sapiens WD repeat domain 36 (WDR36), mRNA.	25			L -> P (possible disease-susceptibility mutation).		rRNA processing|response to stimulus|visual perception	small-subunit processome				cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)		GTCTGCAGCTCTGGCAGAGGA	0.587000														58			34		0	0	1	0	0
WDR96	80217	broad.mit.edu	37	10	105974145	105974145	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:105974145C>T	uc001kxw.3	-	3	572	c.456G>A	c.(454-456)caG>caA	p.Q152Q	WDR96_uc001kxx.4_Silent_p.Q152Q|WDR96_uc001kxy.1_Silent_p.Q152Q|WDR96_uc001kxz.3_Silent_p.Q152Q	NM_025145	NP_079421	Q8NDM7	WDR96_HUMAN	Homo sapiens WD repeat domain 96 (WDR96), mRNA.	152										NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CCATTCCAGGCTGTGATTTCT	0.378000														38			28		0	0	1	0	0
WASL	8976	broad.mit.edu	37	7	123332603	123332603	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:123332603G>T	uc003vkz.3	-	8	1473	c.1145C>A	c.(1144-1146)cCt>cAt	p.P382H		NM_003941	NP_003932	O00401	WASL_HUMAN	Homo sapiens Wiskott-Aldrich syndrome-like (WASL), mRNA.	382	Pro-rich.				actin polymerization or depolymerization|axon guidance|cellular component movement|nitric oxide metabolic process|protein complex assembly|regulation of nitric-oxide synthase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|cytosol|nucleolus|plasma membrane	actin binding|small GTPase regulator activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TGGCCCAGGAGGAGGTGGAGG	0.617000														68			26		1.75199e-13	2.18028e-13	1	1	0
IL31RA	133396	broad.mit.edu	37	5	55206493	55206493	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:55206493G>A	uc003jql.3	+	11	1827	c.1635G>A	c.(1633-1635)ttG>ttA	p.L545L	IL31RA_uc003jqm.3_Silent_p.L526L|IL31RA_uc003jqn.3_Silent_p.L545L|IL31RA_uc010iwa.1_Silent_p.L508L|IL31RA_uc021xyq.1_Silent_p.L526L|IL31RA_uc003jqo.3_Silent_p.L403L	NM_139017	NP_001229568	Q8NI17	IL31R_HUMAN	Homo sapiens interleukin 31 receptor A (IL31RA), transcript variant 1, mRNA.	513					JAK-STAT cascade|MAPKKK cascade|anti-apoptosis|defense response|homeostatic process|macrophage differentiation|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				TCAAGACATTGTCATTCAGTG	0.478000														97			8		0	0	1	0	0
TPD52L1	7164	broad.mit.edu	37	6	125574876	125574876	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:125574876C>A	uc003pzu.1	+	4	619	c.400C>A	c.(400-402)Cat>Aat	p.H134N	TPD52L1_uc003pzv.1_Missense_Mutation_p.H134N|TPD52L1_uc003pzw.1_Intron|TPD52L1_uc003pzx.1_3'UTR|TPD52L1_uc003pzy.1_Missense_Mutation_p.H105N|TPD52L1_uc003pzz.1_Intron	NM_003287	NP_001003395	Q16890	TPD53_HUMAN	Homo sapiens tumor protein D52-like 1 (TPD52L1), transcript variant 1, mRNA.	134					DNA fragmentation involved in apoptotic nuclear change|G2/M transition of mitotic cell cycle|induction of apoptosis|positive regulation of JNK cascade|positive regulation of MAP kinase activity	perinuclear region of cytoplasm	caspase activator activity|protein heterodimerization activity|protein homodimerization activity			endometrium(2)|large_intestine(2)|prostate(1)	5			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0265)		CTCCATTCGCCATTCCATAAG	0.299000														45			23		0.000586117	0.000626886	1	1	0
OPA1	4976	broad.mit.edu	37	3	193336716	193336716	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:193336716T>G	uc003ftg.3	+	5	903	c.669T>G	c.(667-669)caT>caG	p.H223Q	OPA1_uc003fth.3_Missense_Mutation_p.H187Q|OPA1_uc003fti.3_Missense_Mutation_p.H205Q|OPA1_uc003ftj.3_Missense_Mutation_p.H223Q|OPA1_uc003ftk.3_Missense_Mutation_p.H169Q|OPA1_uc003ftl.3_Missense_Mutation_p.H187Q|OPA1_uc003ftm.3_Missense_Mutation_p.H205Q|OPA1_uc003ftn.3_Missense_Mutation_p.H169Q	NM_130837	NP_570850	O60313	OPA1_HUMAN	Homo sapiens optic atrophy 1 (autosomal dominant) (OPA1), nuclear gene encoding mitochondrial protein, transcript variant 8, mRNA.	205					apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception	dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane	GTP binding|GTPase activity|magnesium ion binding|protein binding			breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		GTGACAAGCATTTTAGAAAGG	0.333000														110			11		0	0	1	0	0
EPRS	2058	broad.mit.edu	37	1	220206995	220206995	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:220206995A>G	uc001hly.1	-	3	507	c.237T>C	c.(235-237)gaT>gaC	p.D79D	RNU5F-1_uc021pjd.1_Intron|EPRS_uc010puf.1_5'UTR|EPRS_uc001hlz.1_Silent_p.D79D|EPRS_uc009xdt.1_5'UTR	NM_004446	NP_004437	P07814	SYEP_HUMAN	Homo sapiens glutamyl-prolyl-tRNA synthetase (EPRS), mRNA.	79					glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|RNA binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Glutamic Acid(DB00142)|L-Proline(DB00172)	CCAACCAGTGATCAATCTGTC	0.318000														47			29		0	0	1	0	0
CTTNBP2NL	55917	broad.mit.edu	37	1	112998752	112998752	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:112998752G>A	uc001ebx.3	+	5	866	c.638G>A	c.(637-639)cGg>cAg	p.R213Q	CTTNBP2NL_uc001ebz.3_5'Flank	NM_018704	NP_061174	Q9P2B4	CT2NL_HUMAN	Homo sapiens CTTNBP2 N-terminal like (CTTNBP2NL), mRNA.	213						actin cytoskeleton	protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	29		all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAGAAGAGCCGGGTGAGTAAA	0.517000														52			12		0	0	1	0	0
PPP2R3C	55012	broad.mit.edu	37	14	35576557	35576557	+	Nonsense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:35576557C>A	uc001wss.3	-	5	880	c.526G>T	c.(526-528)Gga>Tga	p.G176*	PPP2R3C_uc001wst.3_Nonsense_Mutation_p.G60*|PPP2R3C_uc010tpr.2_Nonsense_Mutation_p.G60*|PPP2R3C_uc001wsu.3_Non-coding_Transcript|PPP2R3C_uc010amn.1_Intron|AK128559_uc001wsv.1_Intron	NM_017917	NP_060387	Q969Q6	P2R3C_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B'', gamma (PPP2R3C), mRNA.	176						centrosome|nucleus	calcium ion binding			central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)	15	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		Lung(238;8.62e-06)|LUAD - Lung adenocarcinoma(48;1.42e-05)|Epithelial(34;0.0177)|all cancers(34;0.0491)	GBM - Glioblastoma multiforme(112;0.0803)		AAACTGAGTCCTATTCTTGTT	0.333000														52			33		6.29468e-14	7.86195e-14	1	1	0
VRTN	55237	broad.mit.edu	37	14	74824775	74824775	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:74824775G>T	uc021rwl.1	+	0	1289	c.1289G>T	c.(1288-1290)gGc>gTc	p.G430V	VRTN_uc001xpw.4_Missense_Mutation_p.G430V	NM_018228	NP_060698	Q9H8Y1	VRTN_HUMAN	Homo sapiens vertebrae development homolog (pig) (VRTN), mRNA.	430					transposition, DNA-mediated		DNA binding|transposase activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						AGGTTCCCTGGCATCTCACGG	0.577000														62			8		1.26484e-09	1.50989e-09	1	1	0
MAGEA11	4110	broad.mit.edu	37	X	148797686	148797686	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:148797686C>A	uc004fdq.3	+	4	695	c.540C>A	c.(538-540)ttC>ttA	p.F180L	MAGEA11_uc004fdr.3_Missense_Mutation_p.F151L	NM_005366	NP_005357	P43364	MAGAB_HUMAN	Homo sapiens melanoma antigen family A, 11 (MAGEA11), transcript variant 1, mRNA.	180						cytoplasm|nucleus	protein binding			cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					AAGAGTCCTTCTCTCCCACTG	0.562000														43			18		3.52763e-06	3.96648e-06	1	1	0
MLLT4	4301	broad.mit.edu	37	6	168352062	168352062	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:168352062C>T	uc021zik.1	+	28	4203	c.3884C>T	c.(3883-3885)aCc>aTc	p.T1295I	MLLT4_uc003qwb.1_Missense_Mutation_p.T1320I|MLLT4_uc003qwc.2_Missense_Mutation_p.T1336I|MLLT4_uc021zij.1_Missense_Mutation_p.T1319I|MLLT4_uc021zim.1_Missense_Mutation_p.T882I|MLLT4_uc003qwg.1_Missense_Mutation_p.T645I	NM_001040000	NP_001035089	P55196	AFAD_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (MLLT4), transcript variant 2, mRNA.	1336					adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		TCCACACTGACCAAAAGTGGC	0.587000			T	MLL	AL									86			39		0	0	1	0	0
MYO3A	53904	broad.mit.edu	37	10	26443734	26443734	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:26443734G>A	uc001isn.2	+	24	3135	c.2775G>A	c.(2773-2775)acG>acA	p.T925T	MYO3A_uc009xko.1_Silent_p.T925T|MYO3A_uc009xkp.1_Non-coding_Transcript|MYO3A_uc009xkq.1_Intron	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	Homo sapiens myosin IIIA (MYO3A), mRNA.	925	Myosin head-like.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	ADP binding|ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						AAACACAAACGGTTGCATCAT	0.403000														14			9		0	0	1	0	0
ASPM	259266	broad.mit.edu	37	1	197094253	197094253	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:197094253C>T	uc001gtu.3	-	10	3262	c.3005G>A	c.(3004-3006)cGt>cAt	p.R1002H	ASPM_uc001gtv.3_Missense_Mutation_p.R1002H|ASPM_uc001gtw.4_Intron	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	Homo sapiens asp (abnormal spindle) homolog, microcephaly associated (Drosophila) (ASPM), transcript variant 1, mRNA.	1002	CH 1.				mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						CTTTTGAAGACGACTTATTGC	0.378000														73			14		0	0	1	0	0
SLC6A17	388662	broad.mit.edu	37	1	110717534	110717534	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:110717534G>A	uc009wfq.3	+	4	1166	c.705G>A	c.(703-705)tgG>tgA	p.W235*		NM_001010898	NP_001010898	Q9H1V8	S6A17_HUMAN	Homo sapiens solute carrier family 6, member 17 (SLC6A17), mRNA.	235					alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity			breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		TCGTGGCCTGGAGCATCGTGG	0.602000														30			21		0	0	1	0	0
UBC	7316	broad.mit.edu	37	12	125398158	125398158	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:125398158G>A	uc001ugs.4	-	1	618	c.160C>T	c.(160-162)Cgc>Tgc	p.R54C	UBC_uc001ugr.3_5'Flank|UBC_uc001ugt.3_Missense_Mutation_p.R54C|UBC_uc001ugu.1_Missense_Mutation_p.R54C|UBC_uc001ugv.3_Missense_Mutation_p.R54C|UBC_uc021rge.1_Missense_Mutation_p.R54C|UBC_uc001ugw.3_5'UTR|UBC_uc009zyf.1_Non-coding_Transcript	NM_021009	NP_066289	P0CG48	UBC_HUMAN	Homo sapiens ubiquitin C (UBC), mRNA.	54	Ubiquitin-like 1.				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|JNK cascade|M/G1 transition of mitotic cell cycle|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|S phase of mitotic cell cycle|T cell receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|innate immune response|mRNA metabolic process|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	p.G53W(1)		breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		GACAGGGTGCGCCCATCTTCC	0.522000														186			9		0	0	1	0	0
EVC	2121	broad.mit.edu	37	4	5721083	5721083	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:5721083G>A	uc003gil.1	+	1	467	c.283G>A	c.(283-285)Gac>Aac	p.D95N	EVC_uc003gim.1_Non-coding_Transcript	NM_153717	NP_714928	P57679	EVC_HUMAN	Homo sapiens Ellis van Creveld syndrome (EVC), mRNA.	95					muscle organ development	integral to membrane		p.K94*(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				GATGTCGAAGGACAAGGAAGC	0.512000														57			21		0	0	1	0	0
ALOX5AP	241	broad.mit.edu	37	13	31309770	31309770	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:31309770G>A	uc010tdr.2	+	1	447	c.199G>A	c.(199-201)Gtc>Atc	p.V67I	ALOX5AP_uc001utf.2_Missense_Mutation_p.V10I	NM_001204406	NP_001191335	P20292	AL5AP_HUMAN	Homo sapiens arachidonate 5-lipoxygenase-activating protein (ALOX5AP), transcript variant 2, mRNA.	10					cellular response to calcium ion|leukotriene biosynthetic process|leukotriene production involved in inflammatory response|protein homotrimerization	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane	arachidonic acid binding|protein N-terminus binding			endometrium(1)|large_intestine(1)|ovary(1)|prostate(1)	4		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0187)|Epithelial(112;0.0803)|OV - Ovarian serous cystadenocarcinoma(117;0.0864)		AGGCAATGTTGTCCTGTTGGC	0.522000														9			13		0	0	1	0	0
GDF9	2661	broad.mit.edu	37	5	132197653	132197653	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:132197653G>T	uc003kxz.1	-	1	1245	c.993C>A	c.(991-993)ccC>ccA	p.P331P	GDF9_uc011cxj.1_Silent_p.P243P	NM_005260	NP_005251	O60383	GDF9_HUMAN	Homo sapiens growth differentiation factor 9 (GDF9), mRNA.	331					female gamete generation|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			NS(1)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	22		all_cancers(142;0.105)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTGGGCCCAAGGGCTTCTTCA	0.488000														76			9		1.12685e-05	1.25391e-05	1	1	0
BTBD16	118663	broad.mit.edu	37	10	124092006	124092006	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:124092006G>T	uc001lgc.1	+	12	1393	c.1142G>T	c.(1141-1143)aGa>aTa	p.R381I	BTBD16_uc001lgd.1_Missense_Mutation_p.R380I	NM_144587	NP_653188	Q32M84	BTBDG_HUMAN	Homo sapiens BTB (POZ) domain containing 16 (BTBD16), mRNA.	381										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1)	15		all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238)				CAGGCTGTGAGATTTGGGCTG	0.517000														46			4		0.00116845	0.00123466	1	1	0
SIPA1	6494	broad.mit.edu	37	11	65409022	65409022	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:65409022G>A	uc001ofb.2	+	1	797	c.630G>A	c.(628-630)gaG>gaA	p.E210E	SIPA1_uc010rom.1_Silent_p.E210E|SIPA1_uc001ofd.2_Silent_p.E210E	NM_006747	NP_694985	Q96FS4	SIPA1_HUMAN	Homo sapiens signal-induced proliferation-associated 1 (SIPA1), transcript variant 2, mRNA.	210					cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth	cytosol|endomembrane system|membrane|perinuclear region of cytoplasm	Rap GTPase activator activity			cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						ACAGCCTGGAGCACGCAGACC	0.622000														17			14		0	0	1	0	0
CNTN6	27255	broad.mit.edu	37	3	1425035	1425035	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:1425035G>T	uc003boz.3	+	18	2727	c.2460G>T	c.(2458-2460)gaG>gaT	p.E820D	CNTN6_uc011asj.2_Missense_Mutation_p.E748D|CNTN6_uc003bpa.3_Missense_Mutation_p.E820D	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN	Homo sapiens contactin 6 (CNTN6), mRNA.	820	Fibronectin type-III 3.				Notch signaling pathway|axon guidance|cell adhesion|central nervous system development	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		CTGAAATGGAGGTTTCATGGA	0.433000														226			18		2.35188e-11	2.87337e-11	1	1	0
FCHO1	23149	broad.mit.edu	37	19	17889000	17889000	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:17889000G>A	uc002nhg.3	+	18	1593	c.1314G>A	c.(1312-1314)ccG>ccA	p.P438P	FCHO1_uc010ebb.2_Silent_p.P438P|FCHO1_uc002nhh.2_Silent_p.P438P|FCHO1_uc010xpw.1_Silent_p.P388P	NM_001161357	NP_001154829	O14526	FCHO1_HUMAN	Homo sapiens FCH domain only 1 (FCHO1), transcript variant 1, mRNA.	438										NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						TCTTTGGGCCGCCCCTGGAGT	0.572000														30			22		0	0	1	0	0
MLL2	8085	broad.mit.edu	37	12	49445725	49445725	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:49445725T>C	uc001rta.4	-	9	1741	c.1741A>G	c.(1741-1743)Atg>Gtg	p.M581V		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	581	15 X 5 AA repeats of S/P-P-P-E/P-E/A.|Pro-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						GGAGGGGACATGGGTGACTCC	0.577000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				112			8		0	0	1	0	0
SMC3	9126	broad.mit.edu	37	10	112364052	112364052	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:112364052C>T	uc001kze.3	+	28	3772	c.3646C>T	c.(3646-3648)Cat>Tat	p.H1216Y		NM_005445	NP_005436	Q9UQE7	SMC3_HUMAN	Homo sapiens structural maintenance of chromosomes 3 (SMC3), mRNA.	1216					DNA mediated transformation|DNA repair|cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		TGATACCACACATGGTTAATT	0.323000														61			23		0	0	1	0	0
TMEM101	84336	broad.mit.edu	37	17	42090509	42090509	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:42090509C>T	uc002ieu.3	-	2	358	c.333G>A	c.(331-333)tcG>tcA	p.S111S	TMEM101_uc010wis.2_Silent_p.S53S	NM_032376	NP_115752	Q96IK0	TM101_HUMAN	Homo sapiens transmembrane protein 101 (TMEM101), mRNA.	111					positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	signal transducer activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		Breast(137;0.0264)|Prostate(33;0.0861)		BRCA - Breast invasive adenocarcinoma(366;0.113)		CAACTGTGCGCGAGTACATAC	0.632000														16			10		0	0	1	0	0
KCNQ5	56479	broad.mit.edu	37	6	73905007	73905007	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:73905007C>T	uc011dyh.2	+	14	3073	c.2726C>T	c.(2725-2727)cCg>cTg	p.P909L	KCNQ5_uc011dyi.2_Missense_Mutation_p.P900L|KCNQ5_uc010kat.3_Missense_Mutation_p.P881L|KCNQ5_uc003pgk.3_Missense_Mutation_p.P890L|KCNQ5_uc011dyj.2_Missense_Mutation_p.P780L|KCNQ5_uc011dyk.2_Missense_Mutation_p.P640L	NM_001160133	NP_001153605	Q9NR82	KCNQ5_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 5 (KCNQ5), transcript variant 4, mRNA.	890				R -> Q (in Ref. 6; AAF73446).	protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity	p.R909Q(1)		breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		GATGCCGCACCGCAGCCTGCC	0.488000														45			17		0	0	1	0	0
RNF31	55072	broad.mit.edu	37	14	24620580	24620580	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:24620580C>T	uc001wmn.1	+	8	1978	c.1729C>T	c.(1729-1731)Cga>Tga	p.R577*	RNF31_uc001wml.1_Nonsense_Mutation_p.R426*|RNF31_uc001wmm.1_Intron|RNF31_uc010alg.1_Nonsense_Mutation_p.R336*|RNF31_uc001wmo.1_Nonsense_Mutation_p.R44*|RNF31_uc001wmp.3_Non-coding_Transcript	NM_017999	NP_060469	Q96EP0	RNF31_HUMAN	Homo sapiens ring finger protein 31 (RNF31), mRNA.	577	Interaction with RBCK1.|UBA.				CD40 signaling pathway|T cell receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination	CD40 receptor complex|LUBAC complex|internal side of plasma membrane	ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39				GBM - Glioblastoma multiforme(265;0.00861)		GAGGACCAGGCGAAGGAAGGT	0.577000														15			15		0	0	1	0	0
ADD2	119	broad.mit.edu	37	2	70931553	70931553	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:70931553C>A	uc021vjc.1	-	3	487	c.222G>T	c.(220-222)caG>caT	p.Q74H	ADD2_uc010fds.2_Non-coding_Transcript|ADD2_uc002sgy.3_Missense_Mutation_p.Q74H|ADD2_uc002sgz.3_Missense_Mutation_p.Q74H|ADD2_uc010fdt.2_Missense_Mutation_p.Q74H|ADD2_uc002shc.2_Missense_Mutation_p.Q74H|ADD2_uc010fdu.2_Missense_Mutation_p.Q90H	NM_001185054	NP_001608	P35612	ADDB_HUMAN	Homo sapiens adducin 2 (beta) (ADD2), transcript variant 5, mRNA.	74					actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	F-actin capping protein complex|cytoplasm|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						CCTTCTTCATCTGCTCCTGGA	0.592000														38			19		4.35082e-09	5.154e-09	1	1	0
USP21	27005	broad.mit.edu	37	1	161130759	161130759	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:161130759G>A	uc010pkc.2	+	2	706	c.329G>A	c.(328-330)cGt>cAt	p.R110H	USP21_uc010pkd.2_Missense_Mutation_p.R110H	NM_001014443	NP_036607	Q9UK80	UBP21_HUMAN	Homo sapiens ubiquitin specific peptidase 21 (USP21), transcript variant 3, mRNA.	110					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	nucleus	NEDD8-specific protease activity|metal ion binding|protein binding|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|prostate(3)	29	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			AACTTAGCCCGTTCCAAGTCT	0.642000														27			22		0	0	1	0	0
CENPJ	55835	broad.mit.edu	37	13	25480710	25480710	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:25480710A>G	uc001upt.4	-	6	1719	c.1466T>C	c.(1465-1467)aTc>aCc	p.I489T	CENPJ_uc010tdf.2_Non-coding_Transcript|CENPJ_uc010aaf.3_Non-coding_Transcript|CENPJ_uc001upu.3_5'Flank	NM_018451	NP_060921	Q9HC77	CENPJ_HUMAN	Homo sapiens centromere protein J (CENPJ), mRNA.	489					G2/M transition of mitotic cell cycle|cell division|centriole replication|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		TTCAAATTTGATCTGGTCTCT	0.398000														82			6		0	0	1	0	0
MUC21	394263	broad.mit.edu	37	6	30954212	30954212	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:30954212T>G	uc003nsh.2	+	1	511	c.260T>G	c.(259-261)aTc>aGc	p.I87S	MUC21_uc003nsi.1_Non-coding_Transcript|MUC21_uc021yuf.1_Missense_Mutation_p.I71S	NM_001010909	NP_001010909	Q5SSG8	MUC21_HUMAN	Homo sapiens mucin 21, cell surface associated (MUC21), mRNA.	87	28 X 15 AA approximate tandem repeats.|Ser-rich.					integral to membrane|plasma membrane				NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						TCCAGTGGGATCAGCACAGCC	0.577000														79			32		0	0	1	0	0
ZDHHC16	84287	broad.mit.edu	37	10	99213591	99213591	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:99213591G>A	uc001knj.3	+	7	1092	c.726G>A	c.(724-726)gcG>gcA	p.A242A	ZDHHC16_uc001knk.3_Silent_p.A242A|ZDHHC16_uc001knl.3_Intron|ZDHHC16_uc001knm.3_Intron|ZDHHC16_uc001knn.3_Silent_p.A203A|ZDHHC16_uc010qow.2_Silent_p.A242A	NM_198046	NP_932163	Q969W1	ZDH16_HUMAN	Homo sapiens zinc finger, DHHC-type containing 16 (ZDHHC16), transcript variant 5, mRNA.	242					apoptosis	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity|zinc ion binding			kidney(4)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	14		Colorectal(252;0.0846)		Epithelial(162;5.81e-10)|all cancers(201;4.19e-08)		AACTACAGGCGGTTGCCAACC	0.577000														44			5		0	0	1	0	0
PPM1H	57460	broad.mit.edu	37	12	63113990	63113990	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:63113990C>T	uc001srk.3	-	5	1183	c.1034G>A	c.(1033-1035)gGa>gAa	p.G345E		NM_020700	NP_065751	Q9ULR3	PPM1H_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1H (PPM1H), mRNA.	345	PP2C-like.						phosphoprotein phosphatase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)	18			GBM - Glioblastoma multiforme(1;0.000443)|BRCA - Breast invasive adenocarcinoma(9;0.209)	GBM - Glioblastoma multiforme(28;0.0126)		CATCTTCTTTCCAAGCTCCTT	0.453000														104			10		0	0	1	0	0
C3orf22	152065	broad.mit.edu	37	3	126268739	126268739	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:126268739G>A	uc003ejb.3	-	3	727	c.398C>T	c.(397-399)gCg>gTg	p.A133V		NM_152533	NP_689746	Q8N5N4	CC022_HUMAN	Homo sapiens chromosome 3 open reading frame 22 (C3orf22), mRNA.	133										large_intestine(1)|lung(3)|ovary(2)|prostate(1)	7				GBM - Glioblastoma multiforme(114;0.147)		CAGCCCTGCCGCCTTGCTGGT	0.627000														22			11		0	0	1	0	0
DZIP1	22873	broad.mit.edu	37	13	96241408	96241408	+	Splice_Site	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:96241408G>A	uc001vmk.3	-	19	2879	c.2027_splice	c.e19+1	p.T676_splice	DZIP1_uc001vmj.3_Splice_Site_p.T152_splice|DZIP1_uc001vml.3_Splice_Site_p.T657_splice	NM_198968	NP_945319	Q86YF9	DZIP1_HUMAN	Homo sapiens DAZ interacting protein 1 (DZIP1), transcript variant 2, mRNA.	676					germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			CAATACTCACGTAATAGTTGA	0.303000														36			11		0	0	1	0	0
ZC3H4	23211	broad.mit.edu	37	19	47575268	47575268	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:47575268G>A	uc002pga.4	-	12	1951	c.1913C>T	c.(1912-1914)cCg>cTg	p.P638L	ZC3H4_uc002pgb.1_Intron	NM_015168	NP_055983	Q9UPT8	ZC3H4_HUMAN	Homo sapiens zinc finger CCCH-type containing 4 (ZC3H4), mRNA.	638	Pro-rich.						nucleic acid binding|zinc ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		gtgcatgtccgggtgcatgtc	0.672000														2			6		0	0	1	0	0
ARID1B	57492	broad.mit.edu	37	6	157505375	157505375	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:157505375A>G	uc003qqp.3	+	11	3317	c.3317A>G	c.(3316-3318)aAc>aGc	p.N1106S	ARID1B_uc003qqo.3_Missense_Mutation_p.N1119S|ARID1B_uc003qqn.3_Missense_Mutation_p.N1159S	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN	Homo sapiens AT rich interactive domain 1B (SWI1-like) (ARID1B), transcript variant 1, mRNA.	1106	ARID.				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		GTTAATAAAAACAAGAAGTGG	0.433000														19			18		0	0	1	0	0
ZNF782	158431	broad.mit.edu	37	9	99581278	99581278	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:99581278A>G	uc004awp.1	-	5	1308	c.1027T>C	c.(1027-1029)Tgt>Cgt	p.C343R	ZNF782_uc011lup.1_Missense_Mutation_p.C211R	NM_001001662	NP_001001662	Q6ZMW2	ZN782_HUMAN	Homo sapiens zinc finger protein 782 (ZNF782), mRNA.	343					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)	33		Acute lymphoblastic leukemia(62;0.0527)				GTCTCTGTACATGGGTGATAA	0.408000														218			14		0	0	1	0	0
AMIGO3	386724	broad.mit.edu	37	3	49755598	49755598	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49755598G>A	uc003cxj.3	-	0	1641	c.1301C>T	c.(1300-1302)tCa>tTa	p.S434L	RNF123_uc003cxh.3_Intron|RNF123_uc003cxi.3_Intron	NM_198722	NP_942015	Q86WK7	AMGO3_HUMAN	Homo sapiens adhesion molecule with Ig-like domain 3 (AMIGO3), mRNA.	434					heterophilic cell-cell adhesion	integral to membrane				endometrium(1)|pancreas(1)|prostate(2)|urinary_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GCTGAGTACTGAGGACTGTGC	0.692000														88			6		0	0	1	0	0
SPATA20	64847	broad.mit.edu	37	17	48626519	48626519	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:48626519G>A	uc002ird.3	+	5	773	c.632G>A	c.(631-633)cGc>cAc	p.R211H	SPATA20_uc002irc.3_5'UTR|SPATA20_uc002ire.3_Missense_Mutation_p.R151H|SPATA20_uc002irf.3_Missense_Mutation_p.R195H|SPATA20_uc010wmv.1_Missense_Mutation_p.R221H|SPATA20_uc002irg.3_Non-coding_Transcript	NM_022827	NP_073738	Q8TB22	SPT20_HUMAN	Homo sapiens spermatogenesis associated 20 (SPATA20), mRNA.	195					cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis	extracellular region	mannose-6-phosphate isomerase activity|protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)			GTCGGCTTCCGCACAGTGTTG	0.622000														33			28		0	0	1	0	0
ZNF213	7760	broad.mit.edu	37	16	3187371	3187371	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:3187371G>T	uc010uws.2	+	1	537	c.90G>T	c.(88-90)caG>caT	p.Q30H	ZNF213_uc002cud.3_Non-coding_Transcript|ZNF213_uc010btf.3_Missense_Mutation_p.Q30H|ZNF213_uc010bth.3_Missense_Mutation_p.Q30H|ZNF213_uc010uwt.2_Missense_Mutation_p.Q30H	NM_004220	NP_004211	O14771	ZN213_HUMAN	Homo sapiens zinc finger protein 213 (ZNF213), transcript variant 1, mRNA.	30					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	16						CCTGGGAACAGGAATCTGCCC	0.617000														54			15		1.15088e-07	1.32926e-07	1	1	0
MGP	4256	broad.mit.edu	37	12	15035207	15035207	+	Nonsense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:15035207C>A	uc021qvr.1	-	4	381	c.253G>T	c.(253-255)Gaa>Taa	p.E85*	MGP_uc001rcn.2_Nonsense_Mutation_p.E60*	NM_001190839	NP_001177768	P08493	MGP_HUMAN	Homo sapiens matrix Gla protein (MGP), transcript variant 1, mRNA.	60	Gla.				cartilage condensation|cell differentiation|ossification|regulation of bone mineralization	proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent|structural constituent of bone			large_intestine(1)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	7						TTAGAGCGTTCTCGGATCCTA	0.418000														100			11		0.000978159	0.00103832	1	1	0
KRT27	342574	broad.mit.edu	37	17	38938542	38938542	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:38938542G>T	uc002hvg.3	-	0	245	c.204C>A	c.(202-204)tcC>tcA	p.S68S		NM_181537	NP_853515	Q7Z3Y8	K1C27_HUMAN	Homo sapiens keratin 27 (KRT27), mRNA.	68	Gly-rich.|Head.					cytoplasm|intermediate filament	structural molecule activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1)	21		Breast(137;0.000812)				AGGCAGCACAGGAAGCACTTC	0.592000														49			6		0.00198382	0.00208369	1	1	0
NCOA2	10499	broad.mit.edu	37	8	71075085	71075085	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:71075085C>T	uc003xyn.1	-	8	999	c.837G>A	c.(835-837)aaG>aaA	p.K279K		NM_006540	NP_006531	Q15596	NCOA2_HUMAN	Homo sapiens nuclear receptor coactivator 2 (NCOA2), mRNA.	279					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			GAGACGTGATCTTGCCTATTA	0.403000			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""									114			63		0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	176913103	176913103	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:176913103C>T	uc001glc.3	-	13	2513	c.2301G>A	c.(2299-2301)gtG>gtA	p.V767V	ASTN1_uc001glb.1_Silent_p.V767V|ASTN1_uc001gld.1_Silent_p.V767V|ASTN1_uc009wwx.1_Silent_p.V767V	NM_004319	NP_004310	O14525	ASTN1_HUMAN	Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA.	775					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CAGTGGCCACCACAAGACCAT	0.517000														39			13		0	0	1	0	0
CACNA1B	774	broad.mit.edu	37	9	141010080	141010080	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:141010080G>A	uc004cog.3	+	40	5865	c.5720G>A	c.(5719-5721)cGg>cAg	p.R1907Q	CACNA1B_uc022bqn.1_Missense_Mutation_p.R1907Q|CACNA1B_uc004coi.3_Missense_Mutation_p.R1121Q	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA.	1909					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	CGAGGAGCCCGGGTTTTCCTT	0.597000														45			29		0	0	1	0	0
ARHGAP21	57584	broad.mit.edu	37	10	24908579	24908579	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:24908579G>T	uc001isb.2	-	8	2732	c.2245C>A	c.(2245-2247)Cag>Aag	p.Q749K	ARHGAP21_uc010qdb.1_Non-coding_Transcript|ARHGAP21_uc009xkl.1_Missense_Mutation_p.Q749K|ARHGAP21_uc010qdc.1_Missense_Mutation_p.Q584K|ARHGAP21_uc001isc.1_Missense_Mutation_p.Q739K	NM_020824	NP_065875	Q5T5U3	RHG21_HUMAN	Homo sapiens Rho GTPase activating protein 21 (ARHGAP21), mRNA.	748					signal transduction	Golgi membrane|cell junction|cytoplasmic vesicle membrane|cytoskeleton	GTPase activator activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						CTTAAAGGCTGCGGTGTCTGG	0.473000														84			11		2.80697e-09	3.3309e-09	1	1	0
WNT8B	7479	broad.mit.edu	37	10	102242454	102242454	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:102242454T>G	uc001krb.3	+	5	1051	c.937T>G	c.(937-939)Ttc>Gtc	p.F313V		NM_003393	NP_003384	Q93098	WNT8B_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 8B (WNT8B), mRNA.	313					Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway, calcium modulating pathway|anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|determination of dorsal identity|endoderm development|eye development|gastrulation|hypothalamus development|negative regulation of anterior neural cell fate commitment of the neural plate by Wnt receptor signaling pathway|otic placode formation|positive regulation of gene expression|response to estradiol stimulus	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			breast(1)|large_intestine(1)|ovary(1)|skin(1)	4		Colorectal(252;0.117)		Epithelial(162;1.87e-10)|all cancers(201;1.64e-08)		CAACTGCAAGTTCCACTGGTG	0.726000											OREG0020440	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		14			3		0	0	1	0	0
USP35	57558	broad.mit.edu	37	11	77918633	77918633	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:77918633G>T	uc021qny.1	+	7	1805	c.1449G>T	c.(1447-1449)aaG>aaT	p.K483N	USP35_uc001oze.2_Missense_Mutation_p.K239N|USP35_uc001ozc.3_Missense_Mutation_p.K51N|USP35_uc010rsp.2_Intron|USP35_uc001ozd.3_Missense_Mutation_p.K94N|USP35_uc001ozf.3_Missense_Mutation_p.K214N	NM_020798	NP_065849	Q9P2H5	UBP35_HUMAN	Homo sapiens ubiquitin specific peptidase 35 (USP35), mRNA.	483					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			TGATGACCAAGCTGCAGTGGC	0.587000														88			10		0.0581538	0.0591027	1	1	0
ZNF471	57573	broad.mit.edu	37	19	57036320	57036320	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:57036320G>A	uc002qnh.3	+	4	1017	c.884G>A	c.(883-885)tGc>tAc	p.C295Y		NM_020813	NP_065864	Q9BX82	ZN471_HUMAN	Homo sapiens zinc finger protein 471 (ZNF471), mRNA.	295					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0307)		TGTAAGGAATGCAGAAAAGCC	0.383000														105			51		0	0	1	0	0
SLTM	79811	broad.mit.edu	37	15	59179515	59179515	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:59179515G>T	uc002afp.3	-	17	2688	c.2600C>A	c.(2599-2601)cCt>cAt	p.P867H	SLTM_uc002afn.3_Missense_Mutation_p.P409H|SLTM_uc002afo.3_Missense_Mutation_p.P849H|SLTM_uc002afq.3_Missense_Mutation_p.P436H|SLTM_uc010bgd.3_Missense_Mutation_p.P436H	NM_024755	NP_079031	Q9NWH9	SLTM_HUMAN	Homo sapiens SAFB-like, transcription modulator (SLTM), transcript variant 1, mRNA.	867	Arg/Glu-rich.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						AGGATGTCTAGGATGAGTGAT	0.502000														67			10		7.48243e-07	8.52591e-07	1	1	0
USP53	54532	broad.mit.edu	37	4	120177653	120177653	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:120177653C>T	uc003ics.4	+	7	1610	c.544C>T	c.(544-546)Cgg>Tgg	p.R182W	USP53_uc003icr.4_Missense_Mutation_p.R182W|USP53_uc003icu.4_5'UTR	NM_019050	NP_061923	Q70EK8	UBP53_HUMAN	Homo sapiens ubiquitin specific peptidase 53 (USP53), mRNA.	182					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						AGAATTTGTGCGGTACATTTC	0.313000														65			28		0	0	1	0	0
COPG2	26958	broad.mit.edu	37	7	130147189	130147189	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:130147189A>C	uc003vqh.1	-	12	1091	c.1001T>G	c.(1000-1002)tTt>tGt	p.F334C		NM_012133	NP_036265	Q9UBF2	COPG2_HUMAN	Homo sapiens coatomer protein complex, subunit gamma 2 (COPG2), mRNA.	804					intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat	protein binding|structural molecule activity			large_intestine(1)	1	Melanoma(18;0.0435)					CATGCCCAGAAATGTGATGAT	0.453000														193			50		0	0	1	0	0
VPS16	64601	broad.mit.edu	37	20	2843290	2843290	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:2843290C>T	uc002whe.3	+	11	1185	c.1137C>T	c.(1135-1137)gcC>gcT	p.A379A	PTPRA_uc002whj.3_5'Flank|VPS16_uc002whf.3_Intron|VPS16_uc002whg.3_Silent_p.A33A	NM_022575	NP_072097	Q9H269	VPS16_HUMAN	Homo sapiens vacuolar protein sorting 16 homolog (S. cerevisiae) (VPS16), transcript variant 1, mRNA.	379					intracellular protein transport	HOPS complex|early endosome|late endosome membrane|lysosomal membrane|recycling endosome				NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						TGACCCAGGCCGTGCAGCAGT	0.647000														28			18		0	0	1	0	0
MAP1B	4131	broad.mit.edu	37	5	71482482	71482482	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:71482482C>T	uc003kbw.4	+	3	652	c.411C>T	c.(409-411)ctC>ctT	p.L137L	MAP1B_uc010iyw.1_Silent_p.L137L|MAP1B_uc010iyx.1_Silent_p.L11L|MAP1B_uc010iyy.1_Silent_p.L11L	NM_005909	NP_005900	P46821	MAP1B_HUMAN	Homo sapiens microtubule-associated protein 1B (MAP1B), mRNA.	137						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		ACAAGCTGCTCGTGCTGACCG	0.527000														61			40		0	0	1	0	0
TNFRSF10D	8793	broad.mit.edu	37	8	23003220	23003220	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:23003220G>T	uc003xcz.1	-	4	789	c.697C>A	c.(697-699)Cgg>Agg	p.R233R		NM_003840	NP_003831	Q9UBN6	TR10D_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 10d, decoy with truncated death domain (TNFRSF10D), mRNA.	233					anti-apoptosis|apoptosis	integral to membrane	TRAIL binding|transmembrane receptor activity			endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612)		AATTTCTTCCGACATGAAAAG	0.517000														25			23		1.10513e-12	1.3661e-12	1	1	0
DDX23	9416	broad.mit.edu	37	12	49224261	49224261	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:49224261G>T	uc001rsm.3	-	16	2545	c.2454C>A	c.(2452-2454)atC>atA	p.I818I		NM_004818	NP_004809	Q9BUQ8	DDX23_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 23 (DDX23), mRNA.	818						U5 snRNP|catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding			NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						GTCAGGCAAAGATGGTCTCTT	0.567000														44			6		5.9392e-07	6.7814e-07	1	1	0
DMXL1	1657	broad.mit.edu	37	5	118484689	118484689	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:118484689G>A	uc010jcl.1	+	17	3348	c.3167G>A	c.(3166-3168)cGt>cAt	p.R1056H	DMXL1_uc003ksd.2_Missense_Mutation_p.R1056H|DMXL1_uc021ycw.1_Missense_Mutation_p.R883H	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN	Homo sapiens Dmx-like 1 (DMXL1), mRNA.	1056										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		CATACAAATCGTTTAGCAGTA	0.403000														100			62		0	0	1	0	0
PIGQ	9091	broad.mit.edu	37	16	633101	633101	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:633101C>A	uc002cho.3	+	9	1888	c.1750C>A	c.(1750-1752)Cac>Aac	p.H584N	PIGQ_uc010bqw.3_3'UTR|PIGQ_uc002chn.3_3'UTR|PIGQ_uc010uui.2_3'UTR|PIGQ_uc002chp.3_Missense_Mutation_p.H154N|PIGQ_uc010uuj.2_3'UTR	NM_148920	NP_683721	Q9BRB3	PIGQ_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class Q (PIGQ), transcript variant 1, mRNA.	584					C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(780;0.00335)				GCCAGGGTGGCACCAGCTCAG	0.637000														91			6		8.12818e-05	8.84769e-05	1	1	0
UBE2E1	7324	broad.mit.edu	37	3	23848871	23848871	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:23848871C>T	uc003cch.3	+	1	340	c.111C>T	c.(109-111)agC>agT	p.S37S	UBE2E1_uc003cci.3_Silent_p.S37S	NM_003341	NP_003332	P51965	UB2E1_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2E 1 (UBE2E1), transcript variant 1, mRNA.	37					ISG15-protein conjugation|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|histone H2B ubiquitination|histone monoubiquitination|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K48-linked ubiquitination	cytosol|nucleoplasm|ubiquitin ligase complex	ATP binding|ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(2)|large_intestine(4)	7						GTAAAGTCAGCATGAGCAAAA	0.493000														35			4		0	0	1	0	0
NUP205	23165	broad.mit.edu	37	7	135304414	135304414	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:135304414C>T	uc003vsw.3	+	28	4238	c.4207C>T	c.(4207-4209)Ctg>Ttg	p.L1403L		NM_015135	NP_055950	Q92621	NU205_HUMAN	Homo sapiens nucleoporin 205kDa (NUP205), mRNA.	1403					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						ATTGAAGAAACTGTTAGACTT	0.303000														54			18		0	0	1	0	0
MED23	9439	broad.mit.edu	37	6	131929180	131929180	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:131929180T>G	uc003qcs.1	-	11	1283	c.1109A>C	c.(1108-1110)gAt>gCt	p.D370A	MED23_uc003qcq.3_Missense_Mutation_p.D376A|MED23_uc011eca.1_Intron|MED23_uc003qct.1_Missense_Mutation_p.D376A|MED23_uc011ecb.1_Non-coding_Transcript	NM_004830	NP_004821	Q9ULK4	MED23_HUMAN	Homo sapiens mediator complex subunit 23 (MED23), transcript variant 1, mRNA.	370					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		CATAAGATGATCTCTGCCTTT	0.373000														53			26		0	0	1	0	0
RTN3	10313	broad.mit.edu	37	11	63487004	63487004	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:63487004C>T	uc001nxq.3	+	2	1217	c.1030C>T	c.(1030-1032)Ctg>Ttg	p.L344L	RTN3_uc001nxp.3_Intron|RTN3_uc009yov.3_Silent_p.L232L|RTN3_uc010rmt.2_Intron|RTN3_uc010rmu.2_Intron|RTN3_uc001nxm.3_Intron|RTN3_uc001nxn.3_Silent_p.L325L|RTN3_uc001nxo.3_Intron	NM_201428	NP_958831	O95197	RTN3_HUMAN	Homo sapiens reticulon 3 (RTN3), transcript variant 2, mRNA.	344					apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	Golgi membrane|endoplasmic reticulum membrane|extracellular space|integral to membrane				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						GACTTGGGATCTGGTTCCCCA	0.408000														33			27		0	0	1	0	0
KIAA2022	340533	broad.mit.edu	37	X	73962651	73962651	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:73962651G>T	uc004eby.3	-	2	2358	c.1741C>A	c.(1741-1743)Ctg>Atg	p.L581M		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	Homo sapiens KIAA2022 (KIAA2022), mRNA.	581					DNA replication proofreading|DNA replication, removal of RNA primer|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						AAGGGTGCCAGCTTGGCATAT	0.448000														42			24		1.85244e-09	2.20857e-09	1	1	0
CLCA2	9635	broad.mit.edu	37	1	86909576	86909576	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:86909576C>A	uc001dlr.4	+	9	1757	c.1595C>A	c.(1594-1596)gCc>gAc	p.A532D		NM_006536	NP_006527	Q9UQC9	CLCA2_HUMAN	Homo sapiens chloride channel accessory 2 (CLCA2), mRNA.	532					cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity			NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		ACGTGGCAGGCCAGTGGTCCT	0.393000														122			52		2.52991e-16	3.20711e-16	1	1	0
HAS3	3038	broad.mit.edu	37	16	69148496	69148496	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:69148496G>A	uc010cfh.3	+	3	1213	c.989G>A	c.(988-990)cGa>cAa	p.R330Q	HAS3_uc002ewk.3_Intron|HAS3_uc002ewl.3_Missense_Mutation_p.R330Q	NM_001199280	NP_001186209	O00219	HAS3_HUMAN	Homo sapiens hyaluronan synthase 3 (HAS3), transcript variant 3, mRNA.	330					carbohydrate metabolic process	integral to plasma membrane	hyaluronan synthase activity	p.R330Q(2)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(2)	16		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.0694)		CTTGGCTACCGAACTAAGTAT	0.582000														27			14		0	0	1	0	0
TAF1B	9014	broad.mit.edu	37	2	10045094	10045094	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:10045094A>G	uc002qzz.3	+	8	1014	c.914A>G	c.(913-915)aAc>aGc	p.N305S	TAF1B_uc010exc.2_Missense_Mutation_p.N305S|TAF1B_uc002qzy.4_Missense_Mutation_p.N305S|TAF1B_uc010yja.2_Missense_Mutation_p.N50S|TAF1B_uc010exd.3_Missense_Mutation_p.N50S	NM_005680	NP_005671	Q53T94	TAF1B_HUMAN	Homo sapiens TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa (TAF1B), mRNA.	305					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CTTCATCCCAACATACTGTGT	0.383000														55			34		0	0	1	0	0
FRS3	10817	broad.mit.edu	37	6	41739216	41739216	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:41739216T>C	uc003orc.1	-	6	864	c.620A>G	c.(619-621)cAc>cGc	p.H207R		NM_006653	NP_006644	O43559	FRS3_HUMAN	Homo sapiens fibroblast growth factor receptor substrate 3 (FRS3), mRNA.	207					fibroblast growth factor receptor signaling pathway	plasma membrane	fibroblast growth factor receptor binding|insulin receptor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CTGCAGGCAGTGGCGGCCCCT	0.662000														43			21		0	0	1	0	0
CEP78	84131	broad.mit.edu	37	9	80866931	80866931	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:80866931C>T	uc004aky.4	+	8	1456	c.1180C>T	c.(1180-1182)Cgt>Tgt	p.R394C	CEP78_uc004akx.2_Missense_Mutation_p.R393C|CEP78_uc010mpp.3_Missense_Mutation_p.R394C	NM_001098802	NP_001092272	Q5JTW2	CEP78_HUMAN	Homo sapiens centrosomal protein 78kDa (CEP78), transcript variant 1, mRNA.	393					G2/M transition of mitotic cell cycle	centrosome|cytosol				breast(1)|cervix(1)|endometrium(5)|large_intestine(7)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	21						CTTGCCGTGGCGTACTGCAGA	0.403000														17			4		0	0	1	0	0
PEX16	9409	broad.mit.edu	37	11	45935911	45935911	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:45935911T>G	uc001nbt.3	-	6	962	c.650A>C	c.(649-651)gAg>gCg	p.E217A	PEX16_uc001nbu.3_Missense_Mutation_p.E217A	NM_057174	NP_476515	Q9Y5Y5	PEX16_HUMAN	Homo sapiens peroxisomal biogenesis factor 16 (PEX16), transcript variant 2, mRNA.	217					ER-dependent peroxisome organization|peroxisome membrane biogenesis|protein import into peroxisome matrix|protein import into peroxisome membrane	endoplasmic reticulum membrane|integral to peroxisomal membrane	protein C-terminus binding			large_intestine(2)|lung(2)|ovary(2)|skin(1)	7				GBM - Glioblastoma multiforme(35;0.223)		TGCGATGGTCTCCTGCAGCCC	0.662000														36			17		0	0	1	0	0
ZNF492	57615	broad.mit.edu	37	19	22846798	22846798	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:22846798G>T	uc002nqw.3	+	3	571	c.327G>T	c.(325-327)caG>caT	p.Q109H		NM_020855	NP_065906	Q9P255	ZN492_HUMAN	Homo sapiens zinc finger protein 492 (ZNF492), mRNA.	109					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				CGACTACCCAGAACAAAATAT	0.308000														12			4		0.000602214	0.000641151	1	1	0
C14orf166B	145497	broad.mit.edu	37	14	77318754	77318754	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:77318754C>T	uc001xsx.2	+	7	888	c.774C>T	c.(772-774)ttC>ttT	p.F258F	C14orf166B_uc010asn.1_Silent_p.F18F|C14orf166B_uc001xsw.2_Non-coding_Transcript|C14orf166B_uc010tvg.1_Non-coding_Transcript|C14orf166B_uc010tvh.1_Non-coding_Transcript	NM_194287	NP_919263	Q0VAA2	CN16B_HUMAN	Homo sapiens chromosome 14 open reading frame 166B (C14orf166B), mRNA.	258										breast(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(1)	18			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0306)		GGAATAACTTCCACACAAGGG	0.572000														11			9		0	0	1	0	0
KIRREL2	84063	broad.mit.edu	37	19	36357131	36357131	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:36357131G>T	uc002ocb.4	+	14	2076	c.1864G>T	c.(1864-1866)Ggt>Tgt	p.G622C	KIRREL2_uc002obz.4_Intron|KIRREL2_uc002oca.4_Intron|KIRREL2_uc002ocd.4_Missense_Mutation_p.G584C|APLP1_uc010xsz.2_5'Flank|APLP1_uc002oce.3_5'Flank|APLP1_uc002ocf.3_5'Flank|APLP1_uc002ocg.3_5'Flank	NM_199180	NP_954649	Q6UWL6	KIRR2_HUMAN	Homo sapiens kin of IRRE like 2 (Drosophila) (KIRREL2), transcript variant 3, mRNA.	622					cell adhesion	integral to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCCTGGAGGAGGTCTCTTCCT	0.602000														58			6		8.12818e-05	8.84769e-05	1	1	0
SPTLC1	10558	broad.mit.edu	37	9	94874736	94874736	+	Splice_Site	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:94874736C>T	uc011ltv.1	-	2	203	c.165_splice	c.e2+1	p.K55_splice	SPTLC1_uc004arl.1_Splice_Site_p.K55_splice|SPTLC1_uc004arm.1_Splice_Site_p.K55_splice|SPTLC1_uc004arn.1_Splice_Site_p.K55_splice			O15269	SPTC1_HUMAN	Homo sapiens serine palmitoyltransferase, long chain base subunit 1 (SPTLC1), transcript variant 1, mRNA.	55						SPOTS complex|integral to membrane	protein binding|pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			breast(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14					L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	TAATTTCGTACCTTGACTGTA	0.348000														39			15		0	0	1	0	0
NTSR1	4923	broad.mit.edu	37	20	61391456	61391456	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:61391456A>G	uc002ydf.3	+	3	1465	c.1094A>G	c.(1093-1095)aAc>aGc	p.N365S		NM_002531	NP_002522	P30989	NTR1_HUMAN	Homo sapiens neurotensin receptor 1 (high affinity) (NTSR1), mRNA.	365						Golgi apparatus|endoplasmic reticulum|integral to plasma membrane	neurotensin receptor activity, G-protein coupled			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(16)|prostate(1)|skin(3)	27	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;3.63e-06)			ATCCTGTACAACCTCGTCTCT	0.587000														70			39		0	0	1	0	0
PTGER2	5732	broad.mit.edu	37	14	52781701	52781701	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:52781701G>A	uc001wzr.3	+	0	686	c.435G>A	c.(433-435)caG>caA	p.Q145Q		NM_000956	NP_000947	P43116	PE2R2_HUMAN	Homo sapiens prostaglandin E receptor 2 (subtype EP2), 53kDa (PTGER2), mRNA.	145						integral to plasma membrane	prostaglandin E receptor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(41;0.0639)|all_epithelial(31;0.0729)				Alprostadil(DB00770)|Iloprost(DB01088)	ACTTCTACCAGCGCCGCGTCT	0.642000														47			27		0	0	1	0	0
RBP3	5949	broad.mit.edu	37	10	48389680	48389680	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:48389680C>T	uc001jez.3	-	0	1312	c.1198G>A	c.(1198-1200)Gcg>Acg	p.A400T		NM_002900	NP_002891	P10745	RET3_HUMAN	Homo sapiens retinol binding protein 3, interstitial (RBP3), mRNA.	400	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity	p.A400A(1)		central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	GCGTCGGGCGCGGGCCAAGAA	0.642000														26			12		0	0	1	0	0
MAGEA3	4102	broad.mit.edu	37	X	151935890	151935890	+	Nonsense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:151935890C>A	uc022chl.1	-	0	277	c.277G>T	c.(277-279)Gag>Tag	p.E93*	MAGEA3_uc004fgp.3_Nonsense_Mutation_p.E93*	NM_005362	NP_005353	P43357	MAGA3_HUMAN	Homo sapiens melanoma antigen family A, 3 (MAGEA3), mRNA.	93										endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	15	Acute lymphoblastic leukemia(192;6.56e-05)					CTTGGCCCCTCCTCTTCTTGG	0.567000														83			6		2.0095e-06	2.27092e-06	1	1	0
SPNS1	83985	broad.mit.edu	37	16	28995229	28995229	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:28995229C>T	uc010vdi.1	+	11	1583	c.1443C>T	c.(1441-1443)acC>acT	p.T481T	NPIPL1_uc010vct.2_Intron|SPNS1_uc002drx.2_Silent_p.T408T|SPNS1_uc002dsa.2_Silent_p.T481T|SPNS1_uc002drz.2_Silent_p.T429T|SPNS1_uc010byp.2_Silent_p.T407T|LAT_uc002dsb.3_5'Flank|LAT_uc002dsd.3_5'Flank|LAT_uc002dsc.3_5'Flank|LAT_uc010vdj.2_5'Flank|LAT_uc010vdk.1_5'Flank|LAT_uc010vdl.1_5'Flank	NM_001142448	NP_001135922	Q9H2V7	SPNS1_HUMAN	Homo sapiens spinster homolog 1 (Drosophila) (SPNS1), transcript variant 2, mRNA.	481					lipid transport|transmembrane transport	integral to membrane|mitochondrial inner membrane	protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)|urinary_tract(1)	21						TCCTGGGCACCGCCATCTTCA	0.652000														38			27		0	0	1	0	0
BCL11A	53335	broad.mit.edu	37	2	60688784	60688784	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:60688784C>A	uc002sae.1	-	3	1491	c.1263G>T	c.(1261-1263)aaG>aaT	p.K421N	BCL11A_uc002sab.3_Missense_Mutation_p.K421N|BCL11A_uc002sac.3_Intron|BCL11A_uc010ypi.2_Missense_Mutation_p.K90N|BCL11A_uc010ypj.2_Missense_Mutation_p.K387N|BCL11A_uc002sad.1_Missense_Mutation_p.K269N|BCL11A_uc002saf.1_Missense_Mutation_p.K387N	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	Homo sapiens B-cell CLL/lymphoma 11A (zinc finger protein) (BCL11A), transcript variant 1, mRNA.	421					negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			TCATGTGGCGCTTCAGCTTGC	0.642000			T	IGH@	B-CLL									48			26		1.2476e-16	1.58296e-16	1	1	0
CPSF6	11052	broad.mit.edu	37	12	69650591	69650591	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:69650591C>T	uc001sut.4	+	3	599	c.489C>T	c.(487-489)ttC>ttT	p.F163F	CPSF6_uc001suu.4_Silent_p.F163F|CPSF6_uc010stk.2_5'Flank	NM_007007	NP_008938	Q16630	CPSF6_HUMAN	Homo sapiens cleavage and polyadenylation specific factor 6, 68kDa (CPSF6), mRNA.	163					mRNA polyadenylation|protein tetramerization	mRNA cleavage factor complex|paraspeckles|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding			endometrium(1)|large_intestine(7)|lung(8)	16	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)			ATAAACAGTTCCTGAGTCAAT	0.358000														63			26		0	0	1	0	0
PEBP4	157310	broad.mit.edu	37	8	22584731	22584731	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:22584731G>A	uc003xcn.1	-	4	452	c.360C>T	c.(358-360)ggC>ggT	p.G120G		NM_144962	NP_659399	Q96S96	PEBP4_HUMAN	Homo sapiens phosphatidylethanolamine-binding protein 4 (PEBP4), mRNA.	120						lysosome		p.G120G(2)		breast(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|stomach(2)	10		Prostate(55;0.0453)|Breast(100;0.103)		Colorectal(74;0.0434)|COAD - Colon adenocarcinoma(73;0.124)		TCAGGTCGGCGCCCTGAAAGA	0.572000														23			11		0	0	1	0	0
RELA	5970	broad.mit.edu	37	11	65429438	65429438	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:65429438T>C	uc010ron.2	-	2	296	c.156A>G	c.(154-156)acA>acG	p.T52T	RELA_uc001off.3_Silent_p.T52T|RELA_uc001ofh.3_Silent_p.T52T|RELA_uc001ofg.3_Silent_p.T52T|RELA_uc021qlq.1_Silent_p.T52T|RELA_uc009yqr.3_5'UTR|RELA_uc001ofe.2_Silent_p.T52T|RELA_uc009yqs.1_5'Flank	NM_021975	NP_068810	Q04206	TF65_HUMAN	Homo sapiens v-rel reticuloendotheliosis viral oncogene homolog A (avian) (RELA), transcript variant 1, mRNA.	52	RHD.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T cell receptor signaling pathway|Toll signaling pathway|anti-apoptosis|cellular defense response|cytokine-mediated signaling pathway|defense response to virus|inflammatory response|innate immune response|interspecies interaction between organisms|membrane protein intracellular domain proteolysis|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of inflammatory response|response to UV-B|response to interleukin-1|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|transcription factor complex	NF-kappaB binding|activating transcription factor binding|chromatin binding|identical protein binding|phosphate binding|protein N-terminus binding|protein kinase binding|repressing transcription factor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(11)|ovary(1)|urinary_tract(1)	19						TGGTGGTATCTGTGCTCCTCT	0.637000														32			5		0	0	1	0	0
PLOD3	8985	broad.mit.edu	37	7	100859762	100859762	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100859762C>A	uc003uyd.3	-	2	723	c.267G>T	c.(265-267)aaG>aaT	p.K89N	ZNHIT1_uc003uye.3_5'Flank|ZNHIT1_uc003uyf.3_5'Flank	NM_001084	NP_001075	O60568	PLOD3_HUMAN	Homo sapiens procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3 (PLOD3), mRNA.	89					protein modification process	rough endoplasmic reticulum membrane	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	31	Lung NSC(181;0.168)|all_lung(186;0.215)				Succinic acid(DB00139)|Vitamin C(DB00126)	ACCACCGGACCTTCTGTCCTC	0.577000														38			14		6.31663e-08	7.34157e-08	1	1	0
SKIL	6498	broad.mit.edu	37	3	170078168	170078168	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:170078168A>C	uc003fgu.3	+	1	761	c.49A>C	c.(49-51)Aaa>Caa	p.K17Q	SKIL_uc011bps.2_5'UTR|SKIL_uc003fgv.3_Missense_Mutation_p.K17Q|SKIL_uc003fgw.3_Missense_Mutation_p.K17Q	NM_005414	NP_005405	P12757	SKIL_HUMAN	Homo sapiens SKI-like oncogene (SKIL), transcript variant 1, mRNA.	17					cell cycle arrest|negative regulation of cell differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of axonogenesis|protein heterotrimerization|protein homotrimerization|regulation of apoptosis|response to antibiotic|response to growth factor stimulus|skeletal muscle tissue development	PML body|cytoplasm	SMAD binding|chromatin binding|nucleotide binding|protein complex binding|protein domain specific binding|transcription corepressor activity|transcription repressor activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	25	all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			CTCAACTAAAAAACTGAATGG	0.388000														46			30		0	0	1	0	0
CWC22	57703	broad.mit.edu	37	2	180851516	180851516	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:180851516G>A	uc010frh.1	-	3	412	c.112C>T	c.(112-114)Cga>Tga	p.R38*	CWC22_uc002unp.2_Nonsense_Mutation_p.R38*	NM_020943	NP_065994	Q9HCG8	CWC22_HUMAN	Homo sapiens CWC22 spliceosome-associated protein homolog (S. cerevisiae) (CWC22), mRNA.	38	Arg-rich.					catalytic step 2 spliceosome	RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(8)|stomach(1)	30						CGGGGGGATCGTTCTTGTTCT	0.338000														16			5		0	0	1	0	0
PNCK	139728	broad.mit.edu	37	X	152938140	152938140	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:152938140G>A	uc011myu.2	-	2	516	c.330C>T	c.(328-330)tcC>tcT	p.S110S	PNCK_uc011myt.2_Silent_p.S44S|PNCK_uc004fhz.4_5'UTR|PNCK_uc010nuh.2_Silent_p.S110S|PNCK_uc011myv.2_Silent_p.S54S|PNCK_uc011myw.2_Silent_p.S54S	NM_001039582	NP_001034671	Q6P2M8	KCC1B_HUMAN	Homo sapiens pregnancy up-regulated non-ubiquitously expressed CaM kinase (PNCK), transcript variant 1, mRNA.	27	Protein kinase.					cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|lung(3)|skin(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCACCACCTCGGAGAAGGCAC	0.701000														24			16		0	0	1	0	0
NLRP5	126206	broad.mit.edu	37	19	56544907	56544907	+	Splice_Site	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:56544907G>T	uc002qmj.3	+	9	2448	c.2448_splice	c.e9-1	p.M816_splice	NLRP5_uc002qmi.3_Splice_Site_p.M797_splice	NM_153447	NP_703148	P59047	NALP5_HUMAN	Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.	816						mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		CCCCATTGCAGGTTTAGAAAT	0.478000														96			7		0.0293803	0.0299714	1	1	0
MOCS2	4338	broad.mit.edu	37	5	52397956	52397956	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:52397956G>A	uc003joz.3	-	3	611	c.197C>T	c.(196-198)cCg>cTg	p.P66L	MOCS2_uc011cqf.2_3'UTR	NM_004531	NP_004522	O96033	MOC2A_HUMAN	Homo sapiens molybdenum cofactor synthesis 2 (MOCS2), transcript variant 3, mRNA.	0					Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex	nucleotide binding			endometrium(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	5		Lung NSC(810;3.08e-05)|Breast(144;0.0848)				ACCACAGAGCGGAGAAATCAC	0.358000														27			6		0	0	1	0	0
TEFM	79736	broad.mit.edu	37	17	29226234	29226234	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:29226234G>A	uc002hfu.2	-	3	1106	c.1036C>T	c.(1036-1038)Caa>Taa	p.Q346*	TEFM_uc002hfv.2_Non-coding_Transcript	NM_024683	NP_078959	Q96QE5	TEFM_HUMAN	Homo sapiens transcription elongation factor, mitochondrial (TEFM), nuclear gene encoding mitochondrial protein, mRNA.	346					oxidative phosphorylation|regulation of transcription, DNA-dependent|transcription from mitochondrial promoter	mitochondrial nucleoid|ribonucleoprotein complex	DNA polymerase processivity factor activity|nucleic acid binding|protein binding										GCAATAGCTTGTAATAATGAA	0.353000														99			74		0	0	1	0	0
C6orf136	221545	broad.mit.edu	37	6	30617356	30617356	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:30617356C>A	uc003nqx.4	+	1	830	c.637C>A	c.(637-639)Cta>Ata	p.L213I	C6orf136_uc003nqw.4_Missense_Mutation_p.L32I|C6orf136_uc011dmn.2_Intron	NM_001161376	NP_001154848	Q5SQH8	CF136_HUMAN	Homo sapiens chromosome 6 open reading frame 136 (C6orf136), transcript variant 3, mRNA.	32										endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						TCCAGGGACTCTACCATTCCC	0.547000														208			15		6.49762e-13	8.04122e-13	1	1	0
IFIT3	3437	broad.mit.edu	37	10	91098617	91098617	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:91098617G>A	uc001kgf.3	+	1	434	c.205G>A	c.(205-207)Gca>Aca	p.A69T	LIPA_uc001kgb.4_Intron|LIPA_uc001kgc.4_Intron|BC040833_uc001kgd.3_Intron|IFIT3_uc001kgg.3_Missense_Mutation_p.A69T	NM_001549	NP_001540	O14879	IFIT3_HUMAN	Homo sapiens interferon-induced protein with tetratricopeptide repeats 3 (IFIT3), transcript variant 1, mRNA.	69					type I interferon-mediated signaling pathway		protein binding			breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)|urinary_tract(1)	15						TAACAACGAGGCAGCCCTGGA	0.428000														47			38		0	0	1	0	0
F11R	50848	broad.mit.edu	37	1	160969502	160969502	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:160969502G>T	uc009wtt.3	-	6	1000	c.730C>A	c.(730-732)Ctt>Att	p.L244I	F11R_uc010pjv.2_Missense_Mutation_p.L195I|F11R_uc010pjw.2_Missense_Mutation_p.L248I|F11R_uc001fxf.4_Missense_Mutation_p.L244I	NM_016946	NP_058642	Q9Y624	JAM1_HUMAN	Homo sapiens F11 receptor (F11R), mRNA.	244					blood coagulation|inflammatory response|interspecies interaction between organisms|leukocyte migration|tight junction assembly	integral to membrane|tight junction				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)	12	all_cancers(52;6.73e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00207)			AGGGTTACAAGGACGGCTGCC	0.532000														21			9		0.000442599	0.000473562	1	1	0
SYTL1	84958	broad.mit.edu	37	1	27675609	27675609	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:27675609T>C	uc001bnw.2	+	5	695	c.498T>C	c.(496-498)gcT>gcC	p.A166A	SYTL1_uc001bnv.2_Silent_p.A154A|SYTL1_uc001bnx.2_Silent_p.A166A|SYTL1_uc009vsv.2_Silent_p.A166A	NM_001193308	NP_001180237	Q8IYJ3	SYTL1_HUMAN	Homo sapiens synaptotagmin-like 1 (SYTL1), transcript variant 1, mRNA.	166					exocytosis|intracellular protein transport	extrinsic to plasma membrane|melanosome|soluble fraction	Rab GTPase binding|neurexin binding			NS(1)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	12		Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0908)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.0013)|KIRC - Kidney renal clear cell carcinoma(1967;0.00158)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		CCCTAAAGGCTTCAGATCCTG	0.607000														74			10		0	0	1	0	0
FAM83B	222584	broad.mit.edu	37	6	54806043	54806043	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:54806043G>T	uc003pck.3	+	4	2390	c.2274G>T	c.(2272-2274)aaG>aaT	p.K758N		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA.	758										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					TTGCTTCAAAGAAGGAAGTTA	0.378000														58			27		6.32553e-13	7.83728e-13	1	1	0
TLR3	7098	broad.mit.edu	37	4	187003547	187003547	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:187003547G>A	uc003iyq.3	+	3	808	c.707G>A	c.(706-708)aGc>aAc	p.S236N	TLR3_uc011ckz.2_5'UTR|TLR3_uc003iyr.3_5'UTR	NM_003265	NP_003256	O15455	TLR3_HUMAN	Homo sapiens toll-like receptor 3 (TLR3), mRNA.	236					I-kappaB phosphorylation|MyD88-independent toll-like receptor signaling pathway|activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|inflammatory response|innate immune response|negative regulation of osteoclast differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity	p.S236T(2)		breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		CTGGGTCCCAGCCTTACAGAG	0.428000														78			56		0	0	1	0	0
KANSL1	284058	broad.mit.edu	37	17	44171934	44171934	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:44171934C>A	uc002ikc.3	-	2	1894	c.1423G>T	c.(1423-1425)Gct>Tct	p.A475S	KANSL1_uc002ikd.3_Missense_Mutation_p.A475S|KANSL1_uc010dav.3_Missense_Mutation_p.A475S	NM_001193466	NP_056258	Q7Z3B3	K1267_HUMAN	Homo sapiens KIAA1267 (KIAA1267), transcript variant 1, mRNA.	475						MLL1 complex	protein binding										ACCTTATTAGCACGTATCTGT	0.443000														79			9		0.000274275	0.000294507	1	1	0
GALNT14	79623	broad.mit.edu	37	2	31178596	31178596	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:31178596C>T	uc002rns.3	-	6	1197	c.557G>A	c.(556-558)cGg>cAg	p.R186Q	GALNT14_uc002rnq.3_Missense_Mutation_p.R161Q|GALNT14_uc010ymr.2_Missense_Mutation_p.R146Q|GALNT14_uc002rnr.3_Missense_Mutation_p.R181Q|GALNT14_uc010ezo.2_Missense_Mutation_p.R148Q|GALNT14_uc010ezp.1_Missense_Mutation_p.R152Q	NM_001253826	NP_001240755	Q96FL9	GLT14_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14) (GALNT14), transcript variant 2, mRNA.	181	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					AATCCGGGACCGGACCAGACC	0.602000														36			21		0	0	1	0	0
GSPT2	23708	broad.mit.edu	37	X	51488437	51488437	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:51488437G>A	uc004dpl.3	+	0	1957	c.1715G>A	c.(1714-1716)cGa>cAa	p.R572Q		NM_018094	NP_060564	Q8IYD1	ERF3B_HUMAN	Homo sapiens G1 to S phase transition 2 (GSPT2), mRNA.	572					cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|translational termination	cytoplasm	GTP binding|GTPase activity|protein binding			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Ovarian(276;0.236)					AGTAAGACACGACCCCGCTTC	0.428000														56			27		0	0	1	0	0
OPRM1	4988	broad.mit.edu	37	6	154439843	154439843	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:154439843C>A	uc011efe.2	+	5	1992	c.1469C>A	c.(1468-1470)gCt>gAt	p.A490D	OPRM1_uc011efd.2_Missense_Mutation_p.A297D|OPRM1_uc011efc.1_Missense_Mutation_p.A316D|OPRM1_uc003qpr.2_Missense_Mutation_p.A397D|OPRM1_uc003qpt.1_Intron|OPRM1_uc003qps.2_Non-coding_Transcript|OPRM1_uc010kjg.2_Missense_Mutation_p.A297D	NM_001145279	NP_001138751	P35372	OPRM_HUMAN	Homo sapiens opioid receptor, mu 1 (OPRM1), transcript variant MOR-1H, mRNA.	397					behavior|negative regulation of cell proliferation|sensory perception	Golgi apparatus|endoplasmic reticulum|integral to plasma membrane	mu-opioid receptor activity|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	Alfentanil(DB00802)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tramadol(DB00193)	GCAGAAACTGCTCCGTTGCCC	0.463000														78			54		9.53978e-28	1.25448e-27	1	1	0
DNPEP	23549	broad.mit.edu	37	2	220251081	220251081	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:220251081T>C	uc002vle.2	-	4	532	c.386A>G	c.(385-387)gAg>gGg	p.E129G	DNPEP_uc002vli.2_Missense_Mutation_p.E76G|DNPEP_uc010zlg.2_Missense_Mutation_p.E137G|DNPEP_uc002vlj.2_Missense_Mutation_p.E119G	NM_012100	NP_036232	Q9ULA0	DNPEP_HUMAN	Homo sapiens aspartyl aminopeptidase (DNPEP), mRNA.	119					peptide metabolic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Renal(207;0.0474)		Epithelial(149;1.09e-06)|all cancers(144;0.000179)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	L-Glutamic Acid(DB00142)	ACCATAGGTCTCCACACCGAC	0.572000														84			8		0	0	1	0	0
GPRIN1	114787	broad.mit.edu	37	5	176025661	176025661	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:176025661G>A	uc003meo.1	-	1	1350	c.1175C>T	c.(1174-1176)aCg>aTg	p.T392M	GPRIN1_uc021yif.1_Missense_Mutation_p.T392M	NM_052899	NP_443131	Q7Z2K8	GRIN1_HUMAN	Homo sapiens G protein regulated inducer of neurite outgrowth 1 (GPRIN1), mRNA.	392						growth cone|plasma membrane				NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CGTAGTATCCGTGTGGCCAGA	0.522000														49			6		0	0	1	0	0
ABCC1	4363	broad.mit.edu	37	16	16146596	16146596	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:16146596G>A	uc010bvi.3	+	10	1571	c.1396G>A	c.(1396-1398)Gtc>Atc	p.V466I	ABCC1_uc010bvj.3_Missense_Mutation_p.V466I|ABCC1_uc010bvk.3_Missense_Mutation_p.V466I|ABCC1_uc010bvl.3_Missense_Mutation_p.V466I|ABCC1_uc010bvm.3_Missense_Mutation_p.V466I|ABCC1_uc002del.4_Missense_Mutation_p.V350I|ABCC1_uc010bvn.3_Missense_Mutation_p.V329I|ABCC1_uc021tdq.1_5'UTR	NM_004996	NP_004987	P33527	MRP1_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 1 (ABCC1), transcript variant 1, mRNA.	466	ABC transmembrane type-1 1.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	GGGCCCTTCCGTCCTGGCTGG	0.557000														29			29		0	0	1	0	0
ZNF507	22847	broad.mit.edu	37	19	32844567	32844567	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:32844567C>A	uc002nte.3	+	2	1103	c.831C>A	c.(829-831)tcC>tcA	p.S277S	ZNF507_uc002ntc.2_Silent_p.S277S|ZNF507_uc010xrn.1_Silent_p.S277S|ZNF507_uc002ntd.3_Silent_p.S277S	NM_001136156	NP_055725	Q8TCN5	ZN507_HUMAN	Homo sapiens zinc finger protein 507 (ZNF507), transcript variant 1, mRNA.	277					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	31	Esophageal squamous(110;0.162)					TTGATTGCTCCTATCCAATCT	0.478000														90			6		3.59834e-05	3.95114e-05	1	1	0
FAM213A	84293	broad.mit.edu	37	10	82182260	82182260	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:82182260G>A	uc021pux.1	+	2	396	c.266G>A	c.(265-267)cGa>cAa	p.R89Q	FAM213A_uc001kcc.4_Missense_Mutation_p.R89Q|FAM213A_uc001kcd.4_Missense_Mutation_p.R78Q|FAM213A_uc001kcf.4_Missense_Mutation_p.R89Q|FAM213A_uc001kce.4_Missense_Mutation_p.R89Q|FAM213A_uc021puy.1_Missense_Mutation_p.R85Q	NM_001243779	NP_001230708	Q9BRX8	CJ058_HUMAN	Homo sapiens chromosome 10 open reading frame 58 (C10orf58), transcript variant 3, mRNA.	89						extracellular region											TTCCTCTGTCGAGAGGTGAGT	0.502000														38			5		0	0	1	0	0
C3	718	broad.mit.edu	37	19	6714050	6714050	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:6714050G>T	uc002mfm.3	-	6	788	c.726C>A	c.(724-726)ttC>ttA	p.F242L		NM_000064	NP_000055	P01024	CO3_HUMAN	Homo sapiens complement component 3 (C3), mRNA.	242					G-protein coupled receptor protein signaling pathway|complement activation, alternative pathway|complement activation, classical pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		AGATGTAGTAGAATTTCTCTG	0.612000														58			22		1.55469e-16	1.97158e-16	1	1	0
GIF	2694	broad.mit.edu	37	11	59604792	59604792	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:59604792C>T	uc001noi.3	-	5	774	c.726G>A	c.(724-726)aaG>aaA	p.K242K		NM_005142	NP_005133	P27352	IF_HUMAN	Homo sapiens gastric intrinsic factor (vitamin B synthesis) (GIF), mRNA.	242					cobalamin metabolic process|cobalamin transport|cobalt ion transport	apical plasma membrane|endosome|extracellular space|microvillus	cobalamin binding			large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	17						AGTTCCATTCCTTTTTAGATG	0.448000														25			18		0	0	1	0	0
TSNAXIP1	55815	broad.mit.edu	37	16	67860697	67860697	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:67860697T>G	uc010vka.2	+	11	1580	c.1504T>G	c.(1504-1506)Ttc>Gtc	p.F502V	TSNAXIP1_uc010vjz.1_Missense_Mutation_p.F325V|TSNAXIP1_uc002euf.4_Missense_Mutation_p.F181V|TSNAXIP1_uc010vkb.2_Missense_Mutation_p.F433V|TSNAXIP1_uc002eug.4_Missense_Mutation_p.F156V|TSNAXIP1_uc002euh.4_Missense_Mutation_p.F156V|TSNAXIP1_uc002eui.4_Missense_Mutation_p.F156V|TSNAXIP1_uc002euj.3_Missense_Mutation_p.F448V|TSNAXIP1_uc002euk.3_Missense_Mutation_p.F181V	NM_018430	NP_060900	Q2TAA8	TXIP1_HUMAN	Homo sapiens translin-associated factor X interacting protein 1 (TSNAXIP1), mRNA.	448					cell differentiation|multicellular organismal development|spermatogenesis	perinuclear region of cytoplasm				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|soft_tissue(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00432)|Epithelial(162;0.0192)|all cancers(182;0.125)		TATCAAGATCTTCCACTCCAA	0.488000														165			12		0	0	1	0	0
PDCD11	22984	broad.mit.edu	37	10	105199624	105199624	+	Splice_Site	SNP	C	T	T	rs113940597		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:105199624C>T	uc001kwy.1	+	28	4235	c.4148_splice	c.e28+1	p.R1383_splice		NM_014976	NP_055791	Q14690	RRP5_HUMAN	Homo sapiens programmed cell death 11 (PDCD11), mRNA.	1383	S1 motif 12.				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		CAGGGTCCTACGGTAGGTGCC	0.522000														26			32		0	0	1	0	0
OTOF	9381	broad.mit.edu	37	2	26739295	26739295	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:26739295C>A	uc002rhk.3	-	4	627	c.500G>T	c.(499-501)aGc>aTc	p.S167I	OTOF_uc010ylb.1_Non-coding_Transcript	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	Homo sapiens otoferlin (OTOF), transcript variant 1, mRNA.	167					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTCCGGAAGCTCTTCTCTCC	0.637000														60			44		8.00217e-19	1.02783e-18	1	1	0
NAPSA	9476	broad.mit.edu	37	19	50864365	50864365	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:50864365G>A	uc002prx.3	-	4	554	c.501C>T	c.(499-501)ttC>ttT	p.F167F	NR1H2_uc002prv.4_Intron	NM_004851	NP_004842	O96009	NAPSA_HUMAN	Homo sapiens napsin A aspartic peptidase (NAPSA), mRNA.	167					proteolysis	extracellular region	aspartic-type endopeptidase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)		GAGCCTCCCCGAAAATCACTG	0.517000														96			19		0	0	1	0	0
SMC1B	27127	broad.mit.edu	37	22	45768173	45768173	+	Splice_Site	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:45768173C>A	uc003bgc.3	-	13	2111	c.2059_splice	c.e13-1	p.G687_splice	SMC1B_uc003bgd.3_Splice_Site_p.G687_splice|SMC1B_uc003bge.1_Splice_Site_p.G470_splice	NM_148674	NP_683515	Q8NDV3	SMC1B_HUMAN	Homo sapiens structural maintenance of chromosomes 1B (SMC1B), mRNA.	687					chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		TCATTAAACCCTAAAAGGAAA	0.318000														17			21		1.40151e-16	1.77771e-16	1	1	0
AKAP17A	8227	broad.mit.edu	37	X	1713084	1713084	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:1713084C>T	uc004cqa.3	+	1	925	c.729C>T	c.(727-729)ggC>ggT	p.G243G	AKAP17A_uc010ncx.1_Silent_p.G243G|AKAP17A_uc004cqb.3_Non-coding_Transcript|ASMT_uc004cqd.3_5'Flank	NM_005088	NP_005079	Q02040	AK17A_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 17A (AKAP17A), transcript variant 1, mRNA.	243	RRM.				B cell activation|RNA splicing|mRNA processing|regulation of transcription, DNA-dependent|signal transduction	nuclear speck|spliceosomal complex	RNA binding|nucleotide binding|protein binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)	26						TGTACAAGGGCGAGGACGGCA	0.622000														73			7		0	0	1	0	0
LRFN5	145581	broad.mit.edu	37	14	42360514	42360514	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:42360514G>T	uc001wvm.3	+	3	2645	c.1447G>T	c.(1447-1449)Gac>Tac	p.D483Y	LRFN5_uc010ana.3_Intron	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 5 (LRFN5), mRNA.	483	Fibronectin type-III.					integral to membrane		p.D483G(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		AACTATGTATGACTTGTGTGT	0.418000										HNSCC(30;0.082)				82			53		7.34454e-26	9.62715e-26	1	1	0
TRIP12	9320	broad.mit.edu	37	2	230668856	230668856	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:230668856A>G	uc002vpx.1	-	18	2766	c.2657T>C	c.(2656-2658)tTa>tCa	p.L886S	TRIP12_uc021vxw.1_Missense_Mutation_p.L871S|TRIP12_uc002vpy.1_Missense_Mutation_p.L568S|TRIP12_uc002vpw.1_Missense_Mutation_p.L838S|TRIP12_uc010zlz.1_Intron	NM_004238	NP_004229	Q14669	TRIPC_HUMAN	Homo sapiens thyroid hormone receptor interactor 12 (TRIP12), mRNA.	838					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		AACACCAAATAATGTCTTAAT	0.388000														102			7		0	0	1	0	0
CATSPER1	117144	broad.mit.edu	37	11	65788617	65788617	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:65788617G>A	uc001ogt.3	-	4	1869	c.1731C>T	c.(1729-1731)ggC>ggT	p.G577G		NM_053054	NP_444282	Q8NEC5	CTSR1_HUMAN	Homo sapiens cation channel, sperm associated 1 (CATSPER1), mRNA.	577					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						GCAAGGACTGGCCCAGGGTCC	0.647000														11			6		0	0	1	0	0
HELZ	9931	broad.mit.edu	37	17	65212053	65212053	+	Splice_Site	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:65212053T>C	uc010wqk.2	-	5	398	c.211_splice	c.e5-1	p.K71_splice	HELZ_uc002jfv.4_Splice_Site|HELZ_uc002jfx.4_Splice_Site_p.K71_splice|HELZ_uc010des.1_Splice_Site_p.K71_splice	NM_014877	NP_055692			Homo sapiens helicase with zinc finger (HELZ), mRNA.											NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					ATAATTTTTCTGCAAAACAAA	0.279000														12			4		0	0	1	0	0
DOCK9	23348	broad.mit.edu	37	13	99481710	99481710	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:99481710C>T	uc001vnt.2	-	42	4805	c.4750G>A	c.(4750-4752)Gcc>Acc	p.A1584T	DOCK9_uc001vnw.2_Missense_Mutation_p.A1583T|DOCK9_uc021rlw.1_Missense_Mutation_p.A1583T|DOCK9_uc001vnv.1_Non-coding_Transcript|DOCK9_uc010tir.1_Missense_Mutation_p.A1584T|DOCK9_uc001vnq.2_Missense_Mutation_p.A156T|DOCK9_uc001vnr.2_Missense_Mutation_p.A227T|DOCK9_uc010tin.1_Missense_Mutation_p.A227T|DOCK9_uc001vns.2_Missense_Mutation_p.A156T|DOCK9_uc010tio.1_Missense_Mutation_p.A276T|DOCK9_uc010tip.1_Missense_Mutation_p.A294T|DOCK9_uc001vnu.1_Missense_Mutation_p.A156T|DOCK9_uc010tiq.1_Missense_Mutation_p.A562T	NM_015296	NP_056111	Q9BZ29	DOCK9_HUMAN	Homo sapiens dedicator of cytokinesis 9 (DOCK9), transcript variant 1, mRNA.	1584	DHR-2.				blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TTCATCTGGGCGGTGGCCATT	0.547000														12			5		0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114276477	114276477	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:114276477G>T	uc003ibe.4	+	37	6803	c.6703G>T	c.(6703-6705)Ggc>Tgc	p.G2235C	ANK2_uc003ibd.4_Intron|ANK2_uc003ibf.4_Intron|ANK2_uc011cgc.2_Intron|ANK2_uc003ibg.4_Intron|ANK2_uc003ibh.4_Intron|ANK2_uc011cgb.1_Missense_Mutation_p.G2250C	NM_001148	NP_001139	Q01484	ANK2_HUMAN	Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.	2202					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TAAGCATGAAGGCCTAGCAGA	0.507000														93			10		1.5842e-08	1.86177e-08	1	1	0
CCDC40	55036	broad.mit.edu	37	17	78023947	78023947	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:78023947C>T	uc010dht.3	+	6	1055	c.1024C>T	c.(1024-1026)Cag>Tag	p.Q342*	CCDC40_uc010wub.2_Nonsense_Mutation_p.Q342*|CCDC40_uc021uem.1_Nonsense_Mutation_p.Q342*|CCDC40_uc002jxm.4_Nonsense_Mutation_p.Q125*	NM_017950	NP_060420	Q4G0X9	CCD40_HUMAN	Homo sapiens coiled-coil domain containing 40 (CCDC40), transcript variant 1, mRNA.	342					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			GGTACACCTGCAGAAGCTGCT	0.627000														14			10		0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36897304	36897304	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:36897304C>A	uc003cgj.3	-	11	4025	c.3777G>T	c.(3775-3777)gaG>gaT	p.E1259D		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	1259					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CTTTATCCTCCTCACTGTAGT	0.483000														140			13		0.00010058	0.000109296	1	1	0
SYNJ2	8871	broad.mit.edu	37	6	158516690	158516690	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:158516690A>G	uc003qqx.2	+	26	3891	c.3785A>G	c.(3784-3786)cAt>cGt	p.H1262R	SYNJ2_uc003qqy.2_Missense_Mutation_p.H1025R|SYNJ2_uc003qqz.2_Missense_Mutation_p.H879R|SYNJ2_uc003qra.2_Missense_Mutation_p.H605R	NM_003898	NP_001171559	O15056	SYNJ2_HUMAN	Homo sapiens synaptojanin 2 (SYNJ2), transcript variant 1, mRNA.	1262	Pro-rich.						RNA binding|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		CAGACTGTCCATTTTACAATC	0.532000														39			33		0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77767503	77767503	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:77767503G>T	uc003yau.2	+	9	8733	c.8346G>T	c.(8344-8346)gaG>gaT	p.E2782D	ZFHX4_uc003yaw.1_Missense_Mutation_p.E2737D	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	2737						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AGGATGTAGAGAATTTAAATG	0.428000										HNSCC(33;0.089)				32			5		0.184627	0.186034	1	1	0
RAB18	22931	broad.mit.edu	37	10	27822776	27822776	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:27822776C>T	uc001itv.3	+	4	422	c.372C>T	c.(370-372)atC>atT	p.I124I	RAB18_uc001itw.3_Silent_p.I153I|RAB18_uc010qdq.2_Silent_p.I124I|RAB18_uc010qdr.2_Intron	NM_021252	NP_067075	Q9NP72	RAB18_HUMAN	Homo sapiens RAB18, member RAS oncogene family (RAB18), transcript variant 1, mRNA.	124					endocytosis|protein transport|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction	intracellular|plasma membrane	ATP binding|GTP binding|GTPase activity|transcription factor binding			kidney(1)|large_intestine(1)|lung(1)	3						GAAATAAAATCGATAAGGTAA	0.313000														63			54		0	0	1	0	0
STON1-GTF2A1L	286749	broad.mit.edu	37	2	48808411	48808411	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:48808411G>A	uc002rwp.2	+	1	753	c.639G>A	c.(637-639)gaG>gaA	p.E213E	STON1-GTF2A1L_uc021vhf.1_Silent_p.E213E|STON1-GTF2A1L_uc002rwo.4_Silent_p.E213E|STON1-GTF2A1L_uc010fbm.3_Silent_p.E213E|STON1-GTF2A1L_uc010yol.2_Silent_p.E213E	NM_172311	NP_758515	B7ZL16	B7ZL16_HUMAN	Homo sapiens STON1-GTF2A1L readthrough (STON1-GTF2A1L), transcript variant 1, mRNA.	213					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4)	91		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GAAACAAGGAGATGCCTATTG	0.408000														36			23		0	0	1	0	0
CHAF1A	10036	broad.mit.edu	37	19	4429437	4429437	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:4429437A>G	uc002mal.3	+	8	1707	c.1607A>G	c.(1606-1608)gAt>gGt	p.D536G		NM_005483	NP_005474	Q13111	CAF1A_HUMAN	Homo sapiens chromatin assembly factor 1, subunit A (p150) (CHAF1A), mRNA.	536					DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|cell cycle|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		CTTCTCAGTGATGTCGTCATC	0.572000								Chromatin Structure						31			13		0	0	1	0	0
LRP4	4038	broad.mit.edu	37	11	46921053	46921053	+	Splice_Site	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:46921053G>A	uc001ndn.4	-	5	674	c.431_splice	c.e5-1	p.D144_splice	LRP4_uc009ylh.2_Splice_Site_p.D95_splice	NM_002334	NP_002325	O75096	LRP4_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 4 (LRP4), mRNA.	144	LDL-receptor class A 3.				Wnt receptor signaling pathway|endocytosis|negative regulation of canonical Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		ACTTGCGCATGTCTGGGGGGA	0.607000														52			15		0	0	1	0	0
DCC	1630	broad.mit.edu	37	18	50592436	50592436	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:50592436A>G	uc002lfe.2	+	6	1777	c.1161A>G	c.(1159-1161)atA>atG	p.I387M	DCC_uc010xdr.1_Missense_Mutation_p.I235M|DCC_uc010dpf.2_Missense_Mutation_p.I42M	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	387	Ig-like C2-type 4.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		p.R386Q(1)		NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		ACTTACGGATACTTGGGGTGG	0.428000														135			13		0	0	1	0	0
TXNDC2	84203	broad.mit.edu	37	18	9887909	9887909	+	Missense_Mutation	SNP	C	T	T	rs142043945		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:9887909C>T	uc002koi.4	+	1	1882	c.1433C>T	c.(1432-1434)aCg>aTg	p.T478M	TXNDC2_uc002koh.4_Missense_Mutation_p.T411M|TXNDC2_uc021ugx.1_Missense_Mutation_p.T411M	NM_001098529	NP_115619	Q86VQ3	TXND2_HUMAN	Homo sapiens thioredoxin domain containing 2 (spermatozoa) (TXNDC2), transcript variant 2, mRNA.	478	Thioredoxin.				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						TTCTCGGCCACGTGGTGTGGG	0.592000														19			5		0	0	1	0	0
ZNF682	91120	broad.mit.edu	37	19	20117136	20117136	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:20117136G>T	uc002noq.3	-	3	1298	c.1175C>A	c.(1174-1176)aCt>aAt	p.T392N	ZNF682_uc002noo.3_Missense_Mutation_p.T360N|ZNF682_uc002nop.3_Missense_Mutation_p.T360N|ZNF682_uc010eck.3_Missense_Mutation_p.T316N	NM_033196	NP_001070817	O95780	ZN682_HUMAN	Homo sapiens zinc finger protein 682 (ZNF682), transcript variant 1, mRNA.	392					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	14						TTTCTCTCCAGTGTGAATTCT	0.378000														35			25		9.57634e-11	1.16131e-10	1	1	0
GDF5OS	554250	broad.mit.edu	37	20	34022013	34022013	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:34022013G>A	uc002xcj.3	+	1	499	c.424G>A	c.(424-426)Gca>Aca	p.A142T	GDF5_uc010gfc.1_Silent_p.C400C|GDF5_uc002xck.1_Silent_p.C400C					Homo sapiens growth differentiation factor 5 opposite strand, mRNA (cDNA clone MGC:99835 IMAGE:6650156), complete cds.											cervix(1)|endometrium(4)|lung(4)	9						CCTTCCGACTGCAGCGAGCCT	0.612000														81			71		0	0	1	0	0
CA13	377677	broad.mit.edu	37	8	86158064	86158064	+	Missense_Mutation	SNP	A	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:86158064A>T	uc003ydg.2	+	0	349	c.7A>T	c.(7-9)Agg>Tgg	p.R3W	CA13_uc003ydf.1_Intron	NM_198584	NP_940986	Q8N1Q1	CAH13_HUMAN	Homo sapiens carbonic anhydrase XIII (CA13), mRNA.	3					one-carbon metabolic process		carbonate dehydratase activity|zinc ion binding			large_intestine(1)|lung(6)	7						GACCATGTCGAGGCTCAGCTG	0.662000														148			51		0	0	1	0	0
FRMPD2	143162	broad.mit.edu	37	10	49420106	49420106	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:49420106G>A	uc001jgi.3	-	12	1833	c.1502C>T	c.(1501-1503)gCg>gTg	p.A501V	FRMPD2_uc001jgh.3_Missense_Mutation_p.A469V|FRMPD2_uc001jgj.3_Missense_Mutation_p.A470V	NM_001018071	NP_001018081	Q68DX3	FRPD2_HUMAN	Homo sapiens FERM and PDZ domain containing 2 (FRMPD2), transcript variant 3, mRNA.	501	FERM.				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		GATCAGACTCGCTGGGATGTA	0.547000														15			10		0	0	1	0	0
RNF31	55072	broad.mit.edu	37	14	24621172	24621172	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:24621172G>A	uc001wmn.1	+	10	2350	c.2101G>A	c.(2101-2103)Gtg>Atg	p.V701M	RNF31_uc001wml.1_Missense_Mutation_p.V550M|RNF31_uc001wmm.1_Non-coding_Transcript|RNF31_uc010alg.1_Missense_Mutation_p.V460M|RNF31_uc001wmo.1_Missense_Mutation_p.V168M|RNF31_uc001wmp.3_Non-coding_Transcript	NM_017999	NP_060469	Q96EP0	RNF31_HUMAN	Homo sapiens ring finger protein 31 (RNF31), mRNA.	701					CD40 signaling pathway|T cell receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination	CD40 receptor complex|LUBAC complex|internal side of plasma membrane	ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39				GBM - Glioblastoma multiforme(265;0.00861)		GGAGTGTGCCGTGTGTGGCTG	0.602000														22			11		0	0	1	0	0
DOCK9	23348	broad.mit.edu	37	13	99457448	99457448	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:99457448G>A	uc001vnt.2	-	50	5624	c.5569C>T	c.(5569-5571)Ctg>Ttg	p.L1857L	DOCK9_uc001vnw.2_Silent_p.L1856L|DOCK9_uc021rlw.1_Silent_p.L1858L|DOCK9_uc001vnq.2_Silent_p.L406L|DOCK9_uc001vnr.2_Silent_p.L488L|DOCK9_uc010tin.1_Silent_p.L477L|DOCK9_uc001vns.2_Silent_p.L394L|DOCK9_uc010tio.1_Silent_p.L514L|DOCK9_uc010tip.1_Silent_p.L555L	NM_015296	NP_056111	Q9BZ29	DOCK9_HUMAN	Homo sapiens dedicator of cytokinesis 9 (DOCK9), transcript variant 1, mRNA.	1859	DHR-2.				blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TTAGAATCCAGATCCTTAGGG	0.413000														4			3		0	0	1	0	0
RPS6KA5	9252	broad.mit.edu	37	14	91386579	91386579	+	Silent	SNP	T	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:91386579T>A	uc001xys.2	-	6	992	c.777A>T	c.(775-777)ggA>ggT	p.G259G	RPS6KA5_uc010twi.1_Silent_p.G180G|RPS6KA5_uc001xyt.3_Silent_p.G259G|RPS6KA5_uc010att.1_Non-coding_Transcript	NM_004755	NP_004746	O75582	KS6A5_HUMAN	Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 5 (RPS6KA5), transcript variant 1, mRNA.	259	Protein kinase 1.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|axon guidance|epidermal growth factor receptor signaling pathway|histone phosphorylation|innate immune response|interleukin-1-mediated signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)		AATTTTTTTCTCCATCAACAG	0.343000														117			12		0	0	1	0	0
GSTT1	2952	broad.mit.edu	37	22	24381723	24381723	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:24381723G>A	uc002zze.4	-	1	230	c.177C>T	c.(175-177)gaC>gaT	p.D59D	GSTT1_uc010gug.3_Intron|GSTT1_uc011ajl.2_Intron|GSTT1_uc010guh.3_Intron	NM_000853	NP_000844	P30711	GSTT1_HUMAN	Homo sapiens glutathione S-transferase theta 1 (GSTT1), mRNA.	59	GST N-terminal.				glutathione metabolic process	cytosol|soluble fraction	glutathione peroxidase activity|glutathione transferase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|ovary(1)|prostate(1)|skin(1)	6					Glutathione(DB00143)	TGAAGTCCCCGTCCTTCAAGG	0.562000									Myelodysplasia and Acute Myeloid Leukemia (AML), Familial					29			5		0	0	1	0	0
BEND4	389206	broad.mit.edu	37	4	42119622	42119622	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:42119622G>A	uc003gwn.3	-	5	2098	c.1518C>T	c.(1516-1518)aaC>aaT	p.N506N	BEND4_uc003gwm.3_3'UTR	NM_207406	NP_997289	Q6ZU67	BEND4_HUMAN	Homo sapiens BEN domain containing 4 (BEND4), transcript variant 1, mRNA.	506										NS(2)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26						ATGAGCCACCGTTGTGCAGGA	0.532000														8			5		0	0	1	0	0
NPHP1	4867	broad.mit.edu	37	2	110907762	110907762	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:110907762G>T	uc002tfn.4	-	11	1414	c.1320C>A	c.(1318-1320)ccC>ccA	p.P440P	NPHP1_uc002tfm.4_Silent_p.P385P|NPHP1_uc002tfl.4_Silent_p.P441P|NPHP1_uc002tfo.4_Silent_p.P322P|NPHP1_uc010ywx.2_Silent_p.P384P|NPHP1_uc010fjv.1_Silent_p.P384P	NM_207181	NP_997064	O15259	NPHP1_HUMAN	Homo sapiens nephronophthisis 1 (juvenile) (NPHP1), transcript variant 2, mRNA.	440					actin cytoskeleton organization|cell projection organization|cell-cell adhesion|excretion|retina development in camera-type eye|signal transduction|spermatid differentiation|visual behavior	adherens junction|cell-cell junction|cilium axoneme|cytoplasm|cytoskeleton|motile cilium|photoreceptor connecting cilium	protein binding|structural molecule activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2)	24						TACTTACCTGGGGAGAAAAGG	0.373000														71			33		2.80507e-11	3.42243e-11	1	1	0
CSH2	1443	broad.mit.edu	37	17	61950572	61950572	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:61950572C>T	uc002jch.3	-	1	253	c.138G>A	c.(136-138)gcG>gcA	p.A46A	CSH2_uc002jci.3_Silent_p.A46A|CSH2_uc002jcg.3_Silent_p.A46A	NM_020991	NP_066271	P01243	CSH_HUMAN	Homo sapiens chorionic somatomammotropin hormone 2 (CSH2), transcript variant 1, mRNA.	46					female pregnancy|signal transduction	extracellular region	hormone activity|metal ion binding	p.R45H(1)		endometrium(2)|large_intestine(1)|lung(3)	6						CCAGCTGGTGCGCGCGATGGG	0.592000														65			20		0	0	1	0	0
FRMD6	122786	broad.mit.edu	37	14	52194509	52194509	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:52194509G>T	uc001wzd.3	+	13	1916	c.1631G>T	c.(1630-1632)aGc>aTc	p.S544I	FRMD6_uc001wzb.3_Missense_Mutation_p.S536I|FRMD6_uc001wzc.3_Missense_Mutation_p.S536I|FRMD6_uc001wze.3_Missense_Mutation_p.S467I|FRMD6_uc001wzf.3_Missense_Mutation_p.S237I|FRMD6_uc001wzg.3_Missense_Mutation_p.S186I	NM_152330	NP_689543	Q96NE9	FRMD6_HUMAN	Homo sapiens FERM domain containing 6 (FRMD6), transcript variant 2, mRNA.	544						cytoskeleton|mitochondrion|plasma membrane	binding			breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_epithelial(31;0.0163)|Breast(41;0.089)					CACAGCTTGAGCCTCGATGAC	0.448000														87			51		9.59835e-30	1.26557e-29	1	1	0
INPPL1	3636	broad.mit.edu	37	11	71943759	71943759	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:71943759A>G	uc001osf.3	+	14	1949	c.1802A>G	c.(1801-1803)cAc>cGc	p.H601R	INPPL1_uc001osg.3_Missense_Mutation_p.H359R	NM_001567	NP_001558	O15357	SHIP2_HUMAN	Homo sapiens inositol polyphosphate phosphatase-like 1 (INPPL1), mRNA.	601					actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	SH2 domain binding|SH3 domain binding|actin binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						CGTTTCACACACCTCTTCTGG	0.592000														52			21		0	0	1	0	0
BCAR1	9564	broad.mit.edu	37	16	75263741	75263741	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:75263741C>T	uc002fdv.3	-	6	2427	c.2281G>A	c.(2281-2283)Gcc>Acc	p.A761T	BCAR1_uc002fdt.3_Missense_Mutation_p.A214T|BCAR1_uc002fdu.3_Missense_Mutation_p.A551T|BCAR1_uc010vna.2_Missense_Mutation_p.A759T|BCAR1_uc010cgu.3_Missense_Mutation_p.A779T|BCAR1_uc010vnb.2_Missense_Mutation_p.A807T|BCAR1_uc002fdw.3_Missense_Mutation_p.A761T|BCAR1_uc010vnc.2_Missense_Mutation_p.A613T|BCAR1_uc010vnd.2_Missense_Mutation_p.A779T|BCAR1_uc002fdx.3_Missense_Mutation_p.A779T	NM_014567	NP_055382	P56945	BCAR1_HUMAN	Homo sapiens breast cancer anti-estrogen resistance 1 (BCAR1), transcript variant 6, mRNA.	761	Divergent helix-loop-helix motif.				B cell receptor signaling pathway|G-protein coupled receptor protein signaling pathway|T cell receptor signaling pathway|actin filament organization|blood coagulation|cell adhesion|cell division|cell migration|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|integrin-mediated signaling pathway|nerve growth factor receptor signaling pathway|platelet-derived growth factor receptor signaling pathway|positive regulation of cell migration|regulation of apoptosis|regulation of cell growth	cytosol|focal adhesion|membrane fraction|ruffle	SH3 domain binding|protein kinase binding|protein phosphatase binding|signal transducer activity			breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35				BRCA - Breast invasive adenocarcinoma(221;0.169)		GCGTCCACGGCGTTGGTCAGT	0.652000														63			44		0	0	1	0	0
LOC284100	284100	broad.mit.edu	37	17	36243580	36243580	+	Splice_Site	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:36243580C>T	uc002hon.1	-	2		c.108_splice	c.e2+1							Homo sapiens tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide pseudogene (LOC284100), non-coding RNA.											endometrium(6)|kidney(1)	7						TCTGCACTTACCCCCATTATC	0.313000														9			9		0	0	1	0	0
ARPP21	10777	broad.mit.edu	37	7	38356626	38356626	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:38356626A>C	uc003tge.1	-	2	735	c.358T>G	c.(358-360)Tgg>Ggg	p.W120G	ARPP21_uc003tfv.3_Intron|ARPP21_uc003tfz.1_Non-coding_Transcript|ARPP21_uc003tgf.1_Non-coding_Transcript|ARPP21_uc003tgj.1_Non-coding_Transcript|ARPP21_uc003tgg.1_Non-coding_Transcript|ARPP21_uc003tgh.1_Non-coding_Transcript|ARPP21_uc003tgi.1_Non-coding_Transcript			Q9UBL0	ARP21_HUMAN	Homo sapiens TCR gamma alternate reading frame protein (TARP), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	0						cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						TGCACCTCCCACAAGGCACAG	0.428000														49			4		0	0	1	0	0
ANO1	55107	broad.mit.edu	37	11	69951859	69951859	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:69951859G>A	uc001opj.3	+	4	1017	c.712G>A	c.(712-714)Gat>Aat	p.D238N	ANO1_uc001opl.2_Non-coding_Transcript|ANO1_uc001opk.1_Missense_Mutation_p.D210N|ANO1_uc010rqk.2_5'Flank	NM_018043	NP_060513	Q5XXA6	ANO1_HUMAN	Homo sapiens anoctamin 1, calcium activated chloride channel (ANO1), transcript variant 1, mRNA.	238					multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						GTCTGATAAGGATTCCTTTTT	0.502000														39			5		0	0	1	0	0
GHRHR	2692	broad.mit.edu	37	7	31018826	31018826	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:31018826C>T	uc003tbx.3	+	12	1287	c.1239C>T	c.(1237-1239)cgC>cgT	p.R413R	GHRHR_uc003tby.3_Silent_p.R349R|GHRHR_uc003tbz.3_3'UTR	NM_000823	NP_000814	Q02643	GHRHR_HUMAN	Homo sapiens growth hormone releasing hormone receptor (GHRHR), mRNA.	413					activation of adenylate cyclase activity by G-protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to estrogen stimulus|response to glucocorticoid stimulus	cell surface|integral to membrane|nuclear inner membrane|nuclear matrix|nuclear outer membrane|plasma membrane|stored secretory granule	growth factor binding|growth hormone-releasing hormone receptor activity|peptide hormone binding			biliary_tract(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35					Sermorelin(DB00010)	CGCCTTCCCGCTCGGCGGCAA	0.602000														54			5		0	0	1	0	0
CAT	847	broad.mit.edu	37	11	34470767	34470767	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:34470767G>A	uc001mvm.3	+	1	184	c.95G>A	c.(94-96)gGt>gAt	p.G32D	CAT_uc009ykc.1_Non-coding_Transcript	NM_001752	NP_001743	P04040	CATA_HUMAN	Homo sapiens catalase (CAT), mRNA.	32					UV protection|hydrogen peroxide catabolic process|negative regulation of apoptosis|positive regulation of cell division|protein tetramerization|purine base metabolic process|purine nucleotide catabolic process	peroxisomal matrix|peroxisomal membrane	NADP binding|catalase activity|heme binding|protein homodimerization activity			breast(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(3)	26		Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027)		BRCA - Breast invasive adenocarcinoma(625;0.000995)	Fomepizole(DB01213)	ACTGGAGCTGGTAACCCAGTA	0.458000														44			33		0	0	1	0	0
CBS	875	broad.mit.edu	37	21	44486415	44486415	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:44486415G>A	uc002zcu.2	-	4	634	c.389C>T	c.(388-390)gCt>gTt	p.A130V	CBS_uc002zcs.1_Missense_Mutation_p.A25V|CBS_uc002zct.2_Missense_Mutation_p.A130V|CBS_uc002zcw.3_Missense_Mutation_p.A130V|CBS_uc002zcv.2_Missense_Mutation_p.A130V	NM_000071	NP_001171480	P35520	CBS_HUMAN	Homo sapiens cystathionine-beta-synthase (CBS), transcript variant 1, mRNA.	130					L-cysteine catabolic process|L-serine catabolic process|cysteine biosynthetic process from serine|cysteine biosynthetic process via cystathionine|homocysteine catabolic process|hydrogen sulfide biosynthetic process	cytosol|nucleolus	cystathionine beta-synthase activity|heme binding|protein homodimerization activity|pyridoxal phosphate binding|ubiquitin protein ligase binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(8)	17					L-Cysteine(DB00151)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|S-Adenosylmethionine(DB00118)	GTCGCGCTCAGCATCCTCAAT	0.647000														42			16		0	0	1	0	0
ZNF618	114991	broad.mit.edu	37	9	116811954	116811954	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:116811954C>T	uc004bid.3	+	14	2471	c.2372C>T	c.(2371-2373)gCg>gTg	p.A791V	ZNF618_uc004bic.3_Missense_Mutation_p.A698V|ZNF618_uc011lxi.2_Missense_Mutation_p.A758V|ZNF618_uc011lxj.2_Missense_Mutation_p.A759V|ZNF618_uc010mvb.3_Missense_Mutation_p.A381V	NM_133374	NP_588615	Q5T7W0	ZN618_HUMAN	Homo sapiens zinc finger protein 618 (ZNF618), mRNA.	791					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						TTCCTGGAGGCGCTCAAGGAG	0.637000														47			10		0	0	1	0	0
KIAA0368	23392	broad.mit.edu	37	9	114176796	114176796	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:114176796C>A	uc004bfe.1	-	19	2434	c.2434G>T	c.(2434-2436)Gca>Tca	p.A812S	5S_rRNA_uc022blx.1_5'Flank|KIAA0368_uc010muc.1_Missense_Mutation_p.A634S	NM_001080398	NP_001073867			Homo sapiens KIAA0368 (KIAA0368), mRNA.											NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						GATGAGGGTGCCATCTGCCCG	0.537000														64			28		1.42536e-11	1.74426e-11	1	1	0
LRWD1	222229	broad.mit.edu	37	7	102110021	102110021	+	Splice_Site	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:102110021C>T	uc003uzn.3	+	10	1367	c.1229_splice	c.e10-1	p.T410_splice	MIR4467_uc022ajg.1_5'Flank	NM_152892	NP_690852	Q9UFC0	LRWD1_HUMAN	Homo sapiens leucine-rich repeats and WD repeat domain containing 1 (LRWD1), mRNA.	410					DNA-dependent DNA replication initiation|G1 phase of mitotic cell cycle|chromatin modification|establishment of protein localization to chromatin	centromeric heterochromatin|nuclear origin of replication recognition complex|telomeric heterochromatin	chromatin binding|methyl-CpG binding|methylated histone residue binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|stomach(2)	20						CCCTCTTCAGCGGCCTCCTAT	0.647000														67			26		0	0	1	0	0
INVS	27130	broad.mit.edu	37	9	103027136	103027136	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:103027136T>C	uc004bap.1	+	10	1709	c.1497T>C	c.(1495-1497)aaT>aaC	p.N499N	INVS_uc010mta.2_Silent_p.N403N|INVS_uc011lve.1_Silent_p.N403N|INVS_uc004bao.1_Silent_p.N499N|INVS_uc004baq.1_Silent_p.N403N|INVS_uc004bar.1_Silent_p.N403N|INVS_uc010mtb.1_Silent_p.N173N	NM_014425	NP_055240	Q9Y283	INVS_HUMAN	Homo sapiens inversin (INVS), transcript variant 1, mRNA.	499					Wnt receptor signaling pathway|negative regulation of canonical Wnt receptor signaling pathway	cytoplasm|membrane|microtubule|nucleus|spindle	calmodulin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Acute lymphoblastic leukemia(62;0.056)				CCTGCAACAATGGATACCTTG	0.343000														44			28		0	0	1	0	0
PMEL	6490	broad.mit.edu	37	12	56351722	56351722	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56351722C>A	uc001sir.3	-	4	1279	c.616G>T	c.(616-618)Gcc>Tcc	p.A206S	PMEL_uc001siq.3_Missense_Mutation_p.A206S|PMEL_uc010spx.2_Missense_Mutation_p.A120S|PMEL_uc001sip.3_Missense_Mutation_p.A206S	NM_006928	NP_008859	P40967	PMEL_HUMAN	Homo sapiens premelanosome protein (PMEL), transcript variant 3, mRNA.	206					melanin biosynthetic process|melanosome organization	Golgi apparatus|endoplasmic reticulum membrane|extracellular region|integral to membrane|melanosome|multivesicular body membrane|plasma membrane	protein binding			NS(1)|breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						ATGGTGAAGGCTGAGCTGGAA	0.557000														38			22		8.10497e-08	9.41436e-08	1	1	0
PDE4DIP	9659	broad.mit.edu	37	1	144871856	144871856	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:144871856C>A	uc021ouh.1	-	31	5408	c.5106G>T	c.(5104-5106)aaG>aaT	p.K1702N	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|PDE4DIP_uc001elw.4_Missense_Mutation_p.K1702N|PDE4DIP_uc001elx.4_Intron|PDE4DIP_uc001elv.4_Missense_Mutation_p.K709N	NM_001198834	NP_001185763	Q5VU43	MYOME_HUMAN	Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA.	1702					cellular protein complex assembly	Golgi apparatus|centrosome|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GGCTAGCCAGCTTGGGTATGG	0.488000			T	PDGFRB	MPD									70			26		4.72057e-08	5.50067e-08	1	1	0
MTSS1	9788	broad.mit.edu	37	8	125579376	125579376	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:125579376G>A	uc003yrl.2	-	8	1208	c.674C>T	c.(673-675)aCc>aTc	p.T225I	NDUFB9_uc011lim.1_Intron|MTSS1_uc011lin.1_5'Flank|MTSS1_uc011lio.1_Missense_Mutation_p.T111I|MTSS1_uc003yri.2_Missense_Mutation_p.T21I|MTSS1_uc003yrj.2_Missense_Mutation_p.T221I|MTSS1_uc003yrk.2_Missense_Mutation_p.T221I	NM_014751	NP_055566	O43312	MTSS1_HUMAN	Homo sapiens metastasis suppressor 1 (MTSS1), mRNA.	221	IMD.				actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway	actin cytoskeleton|endocytic vesicle|ruffle	SH3 domain binding|actin monomer binding|cytoskeletal adaptor activity|receptor binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			TTCCGAGATGGTCTGAAGGTG	0.443000														59			30		0	0	1	0	0
PIGW	284098	broad.mit.edu	37	17	34894404	34894404	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:34894404T>C	uc002hmy.1	+	1	1497	c.1454T>C	c.(1453-1455)tTt>tCt	p.F485S	PIGW_uc002hmz.1_Missense_Mutation_p.F485S|PIGW_uc021tvq.1_Missense_Mutation_p.F485S	NM_178517	NP_848612	Q7Z7B1	PIGW_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class W (PIGW), mRNA.	485					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	O-acyltransferase activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CTCTATATGTTTTCCAACTGT	0.348000														63			7		0	0	1	0	0
ABCB11	8647	broad.mit.edu	37	2	169780225	169780225	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:169780225C>A	uc002ueo.1	-	27	3999	c.3873G>T	c.(3871-3873)caG>caT	p.Q1291H	ABCB11_uc010zda.1_Missense_Mutation_p.Q709H|ABCB11_uc010zdb.1_Missense_Mutation_p.Q767H	NM_003742	NP_003733	O95342	ABCBB_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 11 (ABCB11), mRNA.	1291	ABC transporter 2.				bile acid biosynthetic process	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	TCACCACCCCCTGTGCCATGA	0.522000														58			5		0.014758	0.0151755	1	1	0
LRRC49	54839	broad.mit.edu	37	15	71188217	71188217	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:71188217G>A	uc010ukf.2	+	2	456	c.150G>A	c.(148-150)tcG>tcA	p.S50S	LRRC49_uc002asu.3_Silent_p.S35S|LRRC49_uc002asx.3_5'UTR|LRRC49_uc002asw.3_Silent_p.S45S|LRRC49_uc002asy.3_5'UTR|LRRC49_uc002asz.3_5'UTR	NM_001199017	NP_001185946	Q8IUZ0	LRC49_HUMAN	Homo sapiens leucine rich repeat containing 49 (LRRC49), transcript variant 1, mRNA.	45						cytoplasm|microtubule				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						AAGACACATCGTCATTCCCCG	0.323000														28			26		0	0	1	0	0
SLC38A3	10991	broad.mit.edu	37	3	50252882	50252882	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:50252882G>T	uc003cyn.4	+	4	502	c.361G>T	c.(361-363)Ggg>Tgg	p.G121W	SLC38A3_uc011bdl.2_Intron|SLC38A3_uc011bdm.2_Missense_Mutation_p.G53W	NM_006841	NP_006832	Q99624	S38A3_HUMAN	Homo sapiens solute carrier family 38, member 3 (SLC38A3), mRNA.	122					cellular nitrogen compound metabolic process|sodium ion transport	integral to plasma membrane	L-alanine transmembrane transporter activity|L-asparagine transmembrane transporter activity|L-glutamine transmembrane transporter activity|L-histidine transmembrane transporter activity|antiporter activity|symporter activity			breast(1)|cervix(1)|endometrium(1)|lung(3)	6				BRCA - Breast invasive adenocarcinoma(193;0.000275)|KIRC - Kidney renal clear cell carcinoma(197;0.00548)|Kidney(197;0.00615)	L-Asparagine(DB00174)|L-Glutamine(DB00130)|L-Histidine(DB00117)	CAAGTCCTCAGGGGTCGTGGG	0.587000														61			6		1.12685e-05	1.25391e-05	1	1	0
REC8	9985	broad.mit.edu	37	14	24647340	24647340	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:24647340G>A	uc001wmr.3	+	12	1332	c.905G>A	c.(904-906)cGc>cAc	p.R302H	REC8_uc001wms.3_Missense_Mutation_p.R302H	NM_005132	NP_005123	O95072	REC8_HUMAN	Homo sapiens REC8 homolog (yeast) (REC8), transcript variant 1, mRNA.	303	Glu-rich.				mitotic metaphase/anaphase transition|mitotic prometaphase|reciprocal meiotic recombination|sister chromatid cohesion	nucleoplasm				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(265;0.00839)		CGCCGTCGTCGCCGGTTACTG	0.612000														25			22		0	0	1	0	0
DACT1	51339	broad.mit.edu	37	14	59113639	59113639	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:59113639C>T	uc001xdw.3	+	3	2462	c.2298C>T	c.(2296-2298)ttC>ttT	p.F766F	DACT1_uc010trv.2_Silent_p.F485F|DACT1_uc001xdx.3_Silent_p.F729F|DACT1_uc010trw.2_Silent_p.F485F	NM_016651	NP_057735	Q9NYF0	DACT1_HUMAN	Homo sapiens dapper, antagonist of beta-catenin, homolog 1 (Xenopus laevis) (DACT1), transcript variant 1, mRNA.	766					Wnt receptor signaling pathway|multicellular organismal development	cytoplasm|nucleus				endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						AGGGCGAGTTCGTGGGGGAGA	0.582000														57			32		0	0	1	0	0
HSPA1B	3304	broad.mit.edu	37	6	31797648	31797648	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31797648G>T	uc003nxk.2	+	0	2137	c.1921G>T	c.(1921-1923)Gat>Tat	p.D641Y		NM_005346	NP_005337	P08107	HSP71_HUMAN	Homo sapiens heat shock 70kDa protein 1B (HSPA1B), mRNA.	641					anti-apoptosis|mRNA catabolic process|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of inclusion body assembly|protein refolding|response to unfolded protein	cytosol|endoplasmic reticulum|inclusion body|mitochondrion|nuclear speck|perinuclear region of cytoplasm|ribonucleoprotein complex	ATP binding|protein N-terminus binding|protein binding involved in protein folding|receptor activity|ubiquitin protein ligase binding|unfolded protein binding			breast(1)|large_intestine(1)|prostate(1)	3						TGAGGAGGTGGATTAGGGGCC	0.567000														94			6		0.000157383	0.000170012	1	1	0
ALDH1B1	219	broad.mit.edu	37	9	38396998	38396998	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:38396998T>G	uc022bgy.1	+	0	1253	c.1253T>G	c.(1252-1254)tTt>tGt	p.F418C	ALDH1B1_uc004aay.3_Missense_Mutation_p.F418C	NM_000692	NP_000683	P30837	AL1B1_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member B1 (ALDH1B1), nuclear gene encoding mitochondrial protein, mRNA.	418					carbohydrate metabolic process	mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity			NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)	NADH(DB00157)	GAGGAGATCTTTGGGCCTGTG	0.557000														26			12		0	0	1	0	0
THSD4	79875	broad.mit.edu	37	15	71447271	71447271	+	Splice_Site	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:71447271G>T	uc002atb.1	+	2	178	c.99_splice	c.e2+1	p.K33_splice		NM_024817	NP_079093	Q6ZMP0	THSD4_HUMAN	Homo sapiens thrombospondin, type I, domain containing 4 (THSD4), mRNA.	33						proteinaceous extracellular matrix	metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						AACACAGGAAGGTAAGCCATG	0.527000														31			20		2.32416e-17	2.96135e-17	1	1	0
SERPINA4	5267	broad.mit.edu	37	14	95033320	95033320	+	Missense_Mutation	SNP	A	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:95033320A>T	uc010avd.3	+	2	1048	c.774A>T	c.(772-774)aaA>aaT	p.K258N	SERPINA4_uc001ydk.3_Missense_Mutation_p.K221N|SERPINA4_uc001ydl.3_Missense_Mutation_p.K221N	NM_006215	NP_006206	P29622	KAIN_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4 (SERPINA4), mRNA.	221					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		TGTGGGAGAAACCATTCATTT	0.522000														53			5		0	0	1	0	0
FBXO30	84085	broad.mit.edu	37	6	146127372	146127372	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:146127372C>T	uc003qla.3	-	1	369	c.170G>A	c.(169-171)cGa>cAa	p.R57Q	LOC100507557_uc003qky.2_Intron	NM_032145	NP_115521	Q8TB52	FBX30_HUMAN	Homo sapiens F-box protein 30 (FBXO30), mRNA.	57							ubiquitin-protein ligase activity|zinc ion binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26		Ovarian(120;0.0776)		OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149)		GCAAGGCACTCGTTCAAATGG	0.423000														134			15		0	0	1	0	0
FAM120A	23196	broad.mit.edu	37	9	96214350	96214350	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:96214350C>T	uc004atw.3	+	0	178	c.153C>T	c.(151-153)gaC>gaT	p.D51D	FAM120AOS_uc004atp.4_5'Flank|FAM120AOS_uc004atq.4_5'Flank|FAM120AOS_uc004atn.4_5'Flank|FAM120AOS_uc004ats.4_Intron|FAM120AOS_uc004att.4_Intron|FAM120AOS_uc004atu.4_Intron|FAM120A_uc004atv.3_Silent_p.D51D	NM_014612	NP_055427	Q9NZB2	F120A_HUMAN	Homo sapiens family with sequence similarity 120A (FAM120A), mRNA.	51						cytoplasm|plasma membrane	RNA binding			endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TGGACGCCGACAACTGCCTGC	0.731000														1			4		0	0	1	0	0
IL23R	149233	broad.mit.edu	37	1	67724629	67724629	+	Nonsense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:67724629G>T	uc001ddo.3	+	10	1793	c.1708G>T	c.(1708-1710)Gaa>Taa	p.E570*	IL23R_uc009waz.3_Nonsense_Mutation_p.E367*|IL23R_uc010opi.2_Non-coding_Transcript|IL23R_uc010opj.2_Nonsense_Mutation_p.E168*|IL23R_uc010opk.2_3'UTR|IL23R_uc010opl.2_Nonsense_Mutation_p.E152*|IL23R_uc010opm.2_Non-coding_Transcript|IL23R_uc001ddq.3_Nonsense_Mutation_p.E316*|IL23R_uc010opn.2_Nonsense_Mutation_p.E415*|IL23R_uc001ddr.3_Non-coding_Transcript|IL23R_uc010oqh.2_Nonsense_Mutation_p.E211*|IL23R_uc010oqf.2_Nonsense_Mutation_p.E168*|IL23R_uc010ops.2_Nonsense_Mutation_p.E367*|IL23R_uc010opt.2_Nonsense_Mutation_p.E211*|IL23R_uc010opu.2_Nonsense_Mutation_p.E266*|IL23R_uc010opv.2_Nonsense_Mutation_p.E328*|IL23R_uc010opw.2_Nonsense_Mutation_p.E205*|IL23R_uc010opx.2_Nonsense_Mutation_p.E211*|IL23R_uc010opy.2_Nonsense_Mutation_p.E337*|IL23R_uc010opz.2_Nonsense_Mutation_p.E211*|IL23R_uc010oqa.2_Nonsense_Mutation_p.E211*|IL23R_uc010oqb.2_Nonsense_Mutation_p.E399*|IL23R_uc010oqc.2_Nonsense_Mutation_p.E286*|IL23R_uc010oqd.2_Nonsense_Mutation_p.E205*|IL23R_uc010oqe.2_Nonsense_Mutation_p.E168*|IL23R_uc010oqg.2_Nonsense_Mutation_p.E168*|IL23R_uc001dds.3_Nonsense_Mutation_p.E315*|IL23R_uc001ddt.3_Nonsense_Mutation_p.E168*	NM_144701	NP_653302	Q5VWK5	IL23R_HUMAN	Homo sapiens interleukin 23 receptor (IL23R), mRNA.	570					inflammatory response|negative regulation of interleukin-10 production|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of interleukin-12 production|positive regulation of memory T cell differentiation|response to interferon-gamma|response to lipopolysaccharide	interleukin-23 receptor complex	receptor activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	21						AGTAGAGGAGGAAACCACCAT	0.398000														62			18		1.02788e-11	1.25893e-11	1	1	0
PTPRB	5787	broad.mit.edu	37	12	70981023	70981023	+	Missense_Mutation	SNP	C	T	T	rs3960114		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:70981023C>T	uc001swb.4	-	6	1451	c.1421G>A	c.(1420-1422)cGt>cAt	p.R474H	PTPRB_uc010sto.2_Missense_Mutation_p.R474H|PTPRB_uc010stp.2_Missense_Mutation_p.R384H|PTPRB_uc001swc.4_Missense_Mutation_p.R692H|PTPRB_uc001swa.4_Missense_Mutation_p.R692H|PTPRB_uc001swd.4_Missense_Mutation_p.R691H|PTPRB_uc009zrr.2_Missense_Mutation_p.R571H	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	474	Fibronectin type-III 6.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			ATGTTTGACACGAAGCTGGAG	0.463000														35			6		0	0	1	0	0
C19orf76	199800	broad.mit.edu	37	19	50193108	50193108	+	Missense_Mutation	SNP	T	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:50193108T>A	uc002pph.2	+	0	1167	c.14T>A	c.(13-15)aTc>aAc	p.I5N	CPT1C_uc002ppl.4_5'Flank|CPT1C_uc002ppi.3_5'Flank|CPT1C_uc002ppk.3_5'Flank|CPT1C_uc010eng.3_5'Flank|CPT1C_uc010enh.3_5'Flank|CPT1C_uc002ppj.3_5'Flank|CPT1C_uc010ybc.1_5'Flank	NM_001101340	NP_001094810	C9JUS6	ADM5_HUMAN	Homo sapiens chromosome 19 open reading frame 76 (C19orf76), mRNA.	5						extracellular region				large_intestine(1)|lung(1)	2						ACTATCCACATCCTCATCCTG	0.682000											OREG0025628	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		44			33		0	0	1	0	0
PTK2B	2185	broad.mit.edu	37	8	27288419	27288419	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:27288419G>A	uc003xfn.2	+	12	1504	c.696G>A	c.(694-696)caG>caA	p.Q232Q	PTK2B_uc022ate.1_Silent_p.Q232Q|PTK2B_uc003xfp.2_Silent_p.Q232Q|PTK2B_uc003xfq.2_Silent_p.Q232Q|PTK2B_uc010luq.1_Silent_p.Q3Q|PTK2B_uc003xfr.1_5'Flank	NM_173174	NP_775268	Q14289	FAK2_HUMAN	Homo sapiens PTK2B protein tyrosine kinase 2 beta (PTK2B), transcript variant 1, mRNA.	232	FERM.				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)		AGATGATCCAGCAGACCTTCC	0.602000														35			19		0	0	1	0	0
INHBE	83729	broad.mit.edu	37	12	57849882	57849882	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57849882A>G	uc001snw.3	+	1	528	c.304A>G	c.(304-306)Act>Gct	p.T102A		NM_031479	NP_113667	P58166	INHBE_HUMAN	Homo sapiens inhibin, beta E (INHBE), mRNA.	102					growth	extracellular region	growth factor activity|hormone activity			breast(2)|central_nervous_system(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	15						GGCAGACTCCACTTCAGCCTA	0.582000											OREG0021944	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		160			98		0	0	1	0	0
PTPRN2	5799	broad.mit.edu	37	7	157370773	157370773	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:157370773G>A	uc003wno.3	-	17	2677	c.2556C>T	c.(2554-2556)ggC>ggT	p.G852G	PTPRN2_uc003wnp.3_Silent_p.G835G|PTPRN2_uc003wnq.3_Silent_p.G823G|PTPRN2_uc003wnr.3_Silent_p.G814G|PTPRN2_uc011kwa.2_Silent_p.G875G	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, N polypeptide 2 (PTPRN2), transcript variant 1, mRNA.	852	Tyrosine-protein phosphatase.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		ACTGCCGGACGCCGTTCTCCG	0.632000														28			35		0	0	1	0	0
CLIP3	25999	broad.mit.edu	37	19	36508317	36508317	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:36508317A>G	uc010eeq.2	-	10	1801	c.1487T>C	c.(1486-1488)gTt>gCt	p.V496A	BC071809_uc002ocy.3_Intron|CLIP3_uc002ocz.2_Missense_Mutation_p.V496A	NM_001199570	NP_001186499	Q96DZ5	CLIP3_HUMAN	Homo sapiens CAP-GLY domain containing linker protein 3 (CLIP3), transcript variant 1, mRNA.	496	GoLD.				chaperone-mediated protein transport|fat cell differentiation|membrane biogenesis|negative regulation of microtubule polymerization|peptidyl-L-cysteine S-palmitoylation|positive regulation of apoptosis|positive regulation of endocytosis|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose transport|positive regulation of protein phosphorylation	Golgi stack|early endosome membrane|membrane raft|microsome|plasma membrane|recycling endosome membrane|trans-Golgi network membrane	ganglioside binding|microtubule binding			cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	23	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TTTGGCTCCAACGCTGTCCCC	0.562000														21			12		0	0	1	0	0
TRIM62	55223	broad.mit.edu	37	1	33612935	33612935	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:33612935T>C	uc001bxb.3	-	4	1909	c.1271A>G	c.(1270-1272)cAa>cGa	p.Q424R		NM_018207	NP_060677	Q9BVG3	TRI62_HUMAN	Homo sapiens tripartite motif containing 62 (TRIM62), mRNA.	424	B30.2/SPRY.					intracellular	zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)				GAGCAAGCCTTGGTCATAGTC	0.567000														44			34		0	0	1	0	0
GMCL1	64395	broad.mit.edu	37	2	70098941	70098941	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:70098941A>C	uc002sfu.3	+	12	1636	c.1429A>C	c.(1429-1431)Ata>Cta	p.I477L		NM_178439	NP_848526	Q96IK5	GMCL1_HUMAN	Homo sapiens germ cell-less homolog 1 (Drosophila) (GMCL1), mRNA.	477					cell differentiation|multicellular organismal development|spermatogenesis	nuclear matrix				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	15						TGGCTATCAAATACTTACACT	0.279000														44			21		0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	227924141	227924141	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:227924141G>A	uc021vxr.1	-	26	2464	c.2363C>T	c.(2362-2364)cCg>cTg	p.P788L	COL4A4_uc021vxs.1_Missense_Mutation_p.P788L	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	788	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding	p.P788Q(2)|p.P788P(1)		breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		TGGACATCCCGGATCACCTCT	0.532000														95			63		0	0	1	0	0
C5orf42	65250	broad.mit.edu	37	5	37121769	37121769	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:37121769T>C	uc011cpa.1	-	47	9204	c.8973A>G	c.(8971-8973)aaA>aaG	p.K2991K	C5orf42_uc003jko.1_Silent_p.K22K|C5orf42_uc003jkp.1_Non-coding_Transcript|C5orf42_uc011coy.1_Silent_p.K1509K|C5orf42_uc003jks.2_Non-coding_Transcript|C5orf42_uc011coz.1_Silent_p.K2084K	NM_023073	NP_075561	E9PH94	E9PH94_HUMAN	Homo sapiens chromosome 5 open reading frame 42 (C5orf42), mRNA.	2991										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			TAGGGCTGGGTTTGTTAGGCA	0.463000														41			17		0	0	1	0	0
ALDOB	229	broad.mit.edu	37	9	104193166	104193166	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:104193166C>T	uc004bbk.2	-	1	86	c.4G>A	c.(4-6)Gcc>Acc	p.A2T		NM_000035	NP_000026	P05062	ALDOB_HUMAN	Homo sapiens aldolase B, fructose-bisphosphate (ALDOB), mRNA.	2					NADH oxidation|fructose 1,6-bisphosphate metabolic process|fructose catabolic process|gluconeogenesis|glycolysis|positive regulation of ATPase activity|vacuolar proton-transporting V-type ATPase complex assembly	centriolar satellite|cytosol	ATPase binding|cytoskeletal protein binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(5)|prostate(2)|skin(4)|urinary_tract(1)	24		Acute lymphoblastic leukemia(62;0.0559)				AATCGGTGGGCCATGGTGACA	0.547000														17			6		0	0	1	0	0
SMG9	56006	broad.mit.edu	37	19	44251656	44251656	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:44251656G>A	uc002oxj.2	-	4	869	c.526C>T	c.(526-528)Cgc>Tgc	p.R176C	SMG9_uc002oxk.2_Missense_Mutation_p.R176C|SMG9_uc010eiy.1_Missense_Mutation_p.R176C	NM_019108	NP_061981	Q9H0W8	SMG9_HUMAN	Homo sapiens smg-9 homolog, nonsense mediated mRNA decay factor (C. elegans) (SMG9), mRNA.	176					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	intracellular	protein binding			kidney(1)|large_intestine(5)|liver(1)|lung(7)|pancreas(1)|prostate(2)|urinary_tract(2)	19						TGCTTCATGCGCTCTGGGGGC	0.572000														17			10		0	0	1	0	0
ZNF226	7769	broad.mit.edu	37	19	44679883	44679883	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:44679883C>T	uc002oys.3	+	5	648	c.468C>T	c.(466-468)ccC>ccT	p.P156P	ZNF226_uc002oyp.3_Silent_p.P156P|ZNF226_uc002oyq.3_Silent_p.P39P|ZNF226_uc002oyr.3_Silent_p.P39P|ZNF226_uc002oyt.3_Silent_p.P156P	NM_001032372	NP_001027545	Q9NYT6	ZN226_HUMAN	Homo sapiens zinc finger protein 226 (ZNF226), transcript variant 1, mRNA.	156					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						Prostate(69;0.0352)|all_neural(266;0.202)				CAGATGGTCCCAATAATACTG	0.398000														13			9		0	0	1	0	0
DAPK3	1613	broad.mit.edu	37	19	3964928	3964928	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:3964928T>C	uc002lzc.1	-	1	218	c.124A>G	c.(124-126)Aag>Gag	p.K42E	DAPK3_uc002lzd.1_Missense_Mutation_p.K42E	NM_001348	NP_001339	O43293	DAPK3_HUMAN	Homo sapiens death-associated protein kinase 3 (DAPK3), mRNA.	42	Protein kinase.				apoptosis|chromatin modification|induction of apoptosis|intracellular protein kinase cascade	PML body|cytoplasm	ATP binding|leucine zipper domain binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		TTGATGAACTTGGCTGCGTAC	0.667000														40			8		0	0	1	0	0
KAT8	84148	broad.mit.edu	37	16	31141659	31141659	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:31141659C>T	uc002eay.3	+	7	1002	c.984C>T	c.(982-984)taC>taT	p.Y328Y	KAT8_uc002eax.3_Silent_p.Y328Y|KAT8_uc002eaz.3_Silent_p.Y170Y|KAT8_uc002eba.3_Silent_p.Y112Y	NM_032188	NP_115564	Q9H7Z6	MYST1_HUMAN	Homo sapiens K(lysine) acetyltransferase 8 (KAT8), transcript variant 1, mRNA.	328	Acetyl-CoA binding.				histone H4-K16 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex|MSL complex	histone acetyltransferase activity|metal ion binding|methylated histone residue binding|transcription factor binding										GCCGCGGCTACGGGAAGTTCC	0.637000														40			15		0	0	1	0	0
ACVR1B	91	broad.mit.edu	37	12	52369229	52369229	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:52369229G>A	uc010snn.2	+	1	349	c.272G>A	c.(271-273)cGc>cAc	p.R91H	ACVR1B_uc001rzl.3_Missense_Mutation_p.R91H|ACVR1B_uc001rzm.3_Missense_Mutation_p.R91H|ACVR1B_uc001rzn.3_Missense_Mutation_p.R91H|ACVR1B_uc021qya.1_Missense_Mutation_p.R39H	NM_020328	NP_064733	P36896	ACV1B_HUMAN	Homo sapiens activin A receptor, type IB (ACVR1B), transcript variant 3, mRNA.	91					G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|peptidyl-threonine phosphorylation|positive regulation of activin receptor signaling pathway|positive regulation of erythrocyte differentiation|protein autophosphorylation|transmembrane receptor protein serine/threonine kinase signaling pathway	cell surface	ATP binding|SMAD binding|activin receptor activity, type I|metal ion binding|transforming growth factor beta receptor activity|ubiquitin protein ligase binding			breast(5)|endometrium(4)|kidney(5)|large_intestine(12)|lung(10)|ovary(1)|pancreas(6)|prostate(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.104)	Adenosine triphosphate(DB00171)	GAGGACCTGCGCAACACCCAC	0.597000														25			12		0	0	1	0	0
AP3M1	26985	broad.mit.edu	37	10	75896428	75896428	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:75896428G>T	uc001jwf.3	-	2	837	c.407C>A	c.(406-408)cCa>cAa	p.P136Q	AP3M1_uc001jwg.3_Missense_Mutation_p.P136Q|AP3M1_uc001jwh.3_Missense_Mutation_p.P136Q|AP3M1_uc010qla.2_Intron	NM_207012	NP_996895	Q9Y2T2	AP3M1_HUMAN	Homo sapiens adaptor-related protein complex 3, mu 1 subunit (AP3M1), transcript variant 1, mRNA.	136					protein targeting to lysosome|vesicle-mediated transport	Golgi apparatus|clathrin adaptor complex|lysosome	protein binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	13	Prostate(51;0.0112)					AATTGTTGGTGGTTTAATCAA	0.328000														53			5		0.00116845	0.00123466	1	1	0
PCDHB4	56131	broad.mit.edu	37	5	140503618	140503618	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140503618G>A	uc003lip.1	+	0	2038	c.2038G>A	c.(2038-2040)Gcc>Acc	p.A680T		NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	Homo sapiens protocadherin beta 4 (PCDHB4), mRNA.	680					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCGGCCCAGGCCCAGGCCGA	0.701000														58			36		0	0	1	0	0
DDX56	54606	broad.mit.edu	37	7	44612025	44612025	+	Missense_Mutation	SNP	C	T	T	rs140918826		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:44612025C>T	uc003tlg.3	-	4	1209	c.566G>A	c.(565-567)cGg>cAg	p.R189Q	DDX56_uc003tlh.3_Non-coding_Transcript|DDX56_uc010kyg.3_Missense_Mutation_p.R189Q|DDX56_uc010kyh.1_Non-coding_Transcript	NM_019082	NP_061955	Q9NY93	DDX56_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 56 (DDX56), mRNA.	189	Helicase ATP-binding.				rRNA processing	nucleolus	ATP binding|ATP-dependent RNA helicase activity|RNA binding|identical protein binding	p.R189W(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)	16						CTGGTAAATCCGGGGCAAGTG	0.493000														40			18		0	0	1	0	0
TTC7A	57217	broad.mit.edu	37	2	47184094	47184094	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:47184094G>A	uc010fbb.3	+	2	833	c.465G>A	c.(463-465)gaG>gaA	p.E155E	TTC7A_uc002rvm.3_Silent_p.E121E|TTC7A_uc002rvn.1_Missense_Mutation_p.R17K|TTC7A_uc002rvo.3_Silent_p.E155E|TTC7A_uc010fbc.3_5'UTR|TTC7A_uc002rvp.3_Missense_Mutation_p.R17K	NM_020458	NP_065191	Q9ULT0	TTC7A_HUMAN	Homo sapiens tetratricopeptide repeat domain 7A (TTC7A), mRNA.	155							binding			breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			TGTCCATGGAGAACAAGCCCC	0.577000														33			23		0	0	1	0	0
NYNRIN	57523	broad.mit.edu	37	14	24884336	24884336	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:24884336C>T	uc001wpf.4	+	8	3699	c.3381C>T	c.(3379-3381)gaC>gaT	p.D1127D		NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN	Homo sapiens NYN domain and retroviral integrase containing (NYNRIN), mRNA.	1127					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						AGAAGCCTGACTGGCAGTGGG	0.627000														16			12		0	0	1	0	0
CES5A	221223	broad.mit.edu	37	16	55905558	55905558	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:55905558G>A	uc021tir.1	-	3	629	c.483C>T	c.(481-483)gcC>gcT	p.A161A	CES5A_uc002eip.2_Silent_p.A132A|CES5A_uc002eio.2_Silent_p.A132A|CES5A_uc002eiq.2_5'UTR|CES5A_uc002eir.2_Silent_p.A26A	NM_001190158	NP_001177087	Q6NT32	EST5A_HUMAN	Homo sapiens carboxylesterase 5A (CES5A), transcript variant 3, mRNA.	132						extracellular region	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity	p.A161T(1)		breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						AGCCTGTATCGGCGTGGGCAG	0.557000														40			4		0	0	1	0	0
ADPRH	141	broad.mit.edu	37	3	119305312	119305312	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:119305312G>A	uc003ecs.3	+	3	777	c.479G>A	c.(478-480)cGg>cAg	p.R160Q	ADPRH_uc010hqv.3_Missense_Mutation_p.R160Q|ADPRH_uc011bjb.2_Missense_Mutation_p.R53Q|ADPRH_uc003ect.3_Missense_Mutation_p.R160Q	NM_001125	NP_001116	P54922	ADPRH_HUMAN	Homo sapiens ADP-ribosylarginine hydrolase (ADPRH), mRNA.	160					protein de-ADP-ribosylation		ADP-ribosylarginine hydrolase activity|magnesium ion binding			breast(1)|kidney(1)|lung(10)|ovary(1)	13		Lung NSC(201;0.0977)		GBM - Glioblastoma multiforme(114;0.23)		GAGAGTGGTCGGATGACCCAC	0.587000														107			77		0	0	1	0	0
DENND2C	163259	broad.mit.edu	37	1	115166215	115166215	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:115166215G>A	uc001efd.1	-	4	1558	c.856C>T	c.(856-858)Cag>Tag	p.Q286*	DENND2C_uc001eez.3_Non-coding_Transcript|DENND2C_uc001efc.1_Nonsense_Mutation_p.Q286*	NM_198459	NP_940861	Q68D51	DEN2C_HUMAN	Homo sapiens DENN/MADD domain containing 2C (DENND2C), transcript variant 2, mRNA.	286										NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CGAATCGTCTGTGAGTTCCGA	0.333000														62			6		0	0	1	0	0
GNB1	2782	broad.mit.edu	37	1	1722020	1722020	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:1722020G>A	uc001aif.3	-	8	876	c.513C>T	c.(511-513)atC>atT	p.I171I	GNB1_uc009vky.3_Silent_p.I71I	NM_002074	NP_002065	P62873	GBB1_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), beta polypeptide 1 (GNB1), mRNA.	171					Ras protein signal transduction|cellular response to glucagon stimulus|energy reserve metabolic process|muscarinic acetylcholine receptor signaling pathway|platelet activation|synaptic transmission	heterotrimeric G-protein complex	GTPase activity|GTPase binding|signal transducer activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	12	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.62e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.14e-35)|OV - Ovarian serous cystadenocarcinoma(86;7.31e-23)|GBM - Glioblastoma multiforme(42;3.1e-07)|COAD - Colon adenocarcinoma(227;0.000323)|Colorectal(212;0.000374)|Kidney(185;0.00392)|BRCA - Breast invasive adenocarcinoma(365;0.00573)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.0482)|Lung(427;0.236)		GGCCGGTCTCGATGTCCCACA	0.542000														16			3		0	0	1	0	0
MYH15	22989	broad.mit.edu	37	3	108181966	108181966	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:108181966G>T	uc003dxa.1	-	16	1973	c.1916C>A	c.(1915-1917)aCt>aAt	p.T639N		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	Homo sapiens myosin, heavy chain 15 (MYH15), mRNA.	639	Myosin head-like.					myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						ACCACTGTCAGTACTCATGTA	0.418000														93			41		1.00001e-27	1.31461e-27	1	1	0
ITGA6	3655	broad.mit.edu	37	2	173332215	173332215	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:173332215C>T	uc002uhp.1	+	2	517	c.314C>T	c.(313-315)cCc>cTc	p.P105L	ITGA6_uc010fqk.1_5'UTR|ITGA6_uc010zdy.1_5'UTR|ITGA6_uc002uho.1_Missense_Mutation_p.P105L	NM_001079818	NP_001073286	P23229	ITA6_HUMAN	Homo sapiens integrin, alpha 6 (ITGA6), transcript variant 1, mRNA.	105					blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter	integrin complex	protein binding|receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			ACAGCTGACCCCACGTCAGAA	0.498000														40			19		0	0	1	0	0
SLTM	79811	broad.mit.edu	37	15	59182557	59182557	+	Nonsense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:59182557C>A	uc002afp.3	-	14	2090	c.2002G>T	c.(2002-2004)Gaa>Taa	p.E668*	SLTM_uc002afn.3_Nonsense_Mutation_p.E210*|SLTM_uc002afo.3_Nonsense_Mutation_p.E650*|SLTM_uc002afq.3_Nonsense_Mutation_p.E237*|SLTM_uc010bgd.3_Nonsense_Mutation_p.E237*	NM_024755	NP_079031	Q9NWH9	SLTM_HUMAN	Homo sapiens SAFB-like, transcription modulator (SLTM), transcript variant 1, mRNA.	668	Arg/Glu-rich.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CTTTCAATTTCTAGGCGCTCT	0.458000														97			59		5.86059e-21	7.57856e-21	1	1	0
MBD4	8930	broad.mit.edu	37	3	129156736	129156736	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:129156736C>T	uc003emh.1	-	1	338	c.162G>A	c.(160-162)atG>atA	p.M54I	IFT122_uc003eml.3_5'Flank|IFT122_uc003emm.3_5'Flank|IFT122_uc003emn.3_5'Flank|IFT122_uc003emo.3_5'Flank|IFT122_uc003emp.3_5'Flank|IFT122_uc010htc.3_5'Flank|IFT122_uc011bky.2_5'Flank|MBD4_uc003emi.1_Missense_Mutation_p.M54I|MBD4_uc003emj.1_Missense_Mutation_p.M54I|MBD4_uc003emk.1_Missense_Mutation_p.M54I|MBD4_uc011bkw.1_Missense_Mutation_p.M54I|IFT122_uc011bkx.1_5'Flank	NM_003925	NP_003916	O95243	MBD4_HUMAN	Homo sapiens methyl-CpG binding domain protein 4 (MBD4), mRNA.	54					depyrimidination	nucleoplasm	DNA N-glycosylase activity|endodeoxyribonuclease activity|protein binding|satellite DNA binding			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)	22						TTCTTTTTATCATCATTTGTT	0.383000								Base excision repair (BER), DNA glycosylases						81			59		0	0	1	0	0
NCOR2	9612	broad.mit.edu	37	12	124870300	124870300	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:124870300C>T	uc021rga.1	-	16	2127	c.2010G>A	c.(2008-2010)aaG>aaA	p.K670K	NCOR2_uc021rgb.1_Silent_p.K670K|NCOR2_uc010tbb.2_Silent_p.K670K|NCOR2_uc010tbc.2_Silent_p.K669K|NCOR2_uc021rgc.1_Silent_p.K669K|NCOR2_uc010tba.2_Silent_p.K670K|NCOR2_uc001ugj.1_Silent_p.K670K	NM_006312	NP_006303	Q9Y618	NCOR2_HUMAN	Homo sapiens nuclear receptor corepressor 2 (NCOR2), transcript variant 1, mRNA.	670					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|Notch binding|histone deacetylase binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		CCATCTTCAGCTTGTGCTGCT	0.582000														79			56		0	0	1	0	0
SYTL2	54843	broad.mit.edu	37	11	85445199	85445199	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:85445199C>T	uc010rth.2	-	5	1559	c.1170G>A	c.(1168-1170)tcG>tcA	p.S390S	SYTL2_uc010rtg.2_Silent_p.S391S|SYTL2_uc010rti.2_Silent_p.S390S|SYTL2_uc010rtj.2_Silent_p.S342S|SYTL2_uc001pbf.4_Silent_p.S390S|SYTL2_uc010rtf.2_Silent_p.S248S	NM_001162951	NP_001156423	Q9HCH5	SYTL2_HUMAN	Homo sapiens synaptotagmin-like 2 (SYTL2), transcript variant g, mRNA.	390					intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	Rab GTPase binding|neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		GATGAAAAAGCGAAGGCTTTC	0.398000														125			9		0	0	1	0	0
ZNF765	91661	broad.mit.edu	37	19	53911139	53911139	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:53911139G>A	uc010ydx.2	+	5	658	c.331G>A	c.(331-333)Gca>Aca	p.A111T	ZNF765_uc002qbm.3_Missense_Mutation_p.A111T|ZNF765_uc002qbn.3_Intron	NM_001040185	NP_001035275	Q7L2R6	ZN765_HUMAN	Homo sapiens zinc finger protein 765 (ZNF765), mRNA.	111					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(3)	4				GBM - Glioblastoma multiforme(134;0.00379)		TGGCCATGAAGCACTCATGAC	0.353000														44			25		0	0	1	0	0
PHF20	51230	broad.mit.edu	37	20	34451299	34451299	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:34451299G>T	uc002xek.1	+	5	896	c.785G>T	c.(784-786)aGa>aTa	p.R262I	PHF20_uc002xei.1_Missense_Mutation_p.R262I|PHF20_uc010gfo.1_Missense_Mutation_p.R262I|PHF20_uc002xej.1_Missense_Mutation_p.R146I|PHF20_uc002xel.1_Missense_Mutation_p.R124I	NM_016436	NP_057520	Q9BVI0	PHF20_HUMAN	Homo sapiens PHD finger protein 20 (PHF20), mRNA.	262					regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding			breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					AAACGAGGCAGACCCCCTTCC	0.448000														57			45		6.31075e-24	8.23127e-24	1	1	0
PHKA1	5255	broad.mit.edu	37	X	71846867	71846867	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:71846867G>T	uc004eax.4	-	16	2048	c.1747C>A	c.(1747-1749)Ctg>Atg	p.L583M	PHKA1_uc004eay.4_Missense_Mutation_p.L583M|PHKA1_uc011mqi.2_Missense_Mutation_p.L583M	NM_002637	NP_002628	P46020	KPB1_HUMAN	Homo sapiens phosphorylase kinase, alpha 1 (muscle) (PHKA1), transcript variant 1, mRNA.	583					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					AGTGCTGCCAGGATACTTGAA	0.373000														94			46		1.46156e-29	1.92666e-29	1	1	0
ZNF57	126295	broad.mit.edu	37	19	2917641	2917641	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:2917641G>A	uc002lwr.3	+	3	1170	c.1022G>A	c.(1021-1023)tGt>tAt	p.C341Y	ZNF57_uc010xha.2_Missense_Mutation_p.C309Y	NM_173480	NP_775751	Q68EA5	ZNF57_HUMAN	Homo sapiens zinc finger protein 57 (ZNF57), mRNA.	341					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.C341W(1)		endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|GBM - Glioblastoma multiforme(1328;0.00161)|STAD - Stomach adenocarcinoma(1328;0.18)		TGTGAACACTGTGGGAAGGCT	0.448000														33			16		0	0	1	0	0
EPB42	2038	broad.mit.edu	37	15	43498536	43498536	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:43498536G>A	uc001zrb.4	-	9	2000	c.1700C>T	c.(1699-1701)gCc>gTc	p.A567V	EPB42_uc001zqz.4_Missense_Mutation_p.A204V|EPB42_uc001zra.4_Missense_Mutation_p.A537V|EPB42_uc010udm.2_Missense_Mutation_p.A459V	NM_000119	NP_000110	P16452	EPB42_HUMAN	Homo sapiens erythrocyte membrane protein band 4.2 (EPB42), transcript variant 1, mRNA.	537					erythrocyte maturation|peptide cross-linking|regulation of cell shape	cytoplasm|cytoskeleton|plasma membrane	ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton			endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)		ACCCAGGTTGGCACTGAGCGT	0.622000														25			13		0	0	1	0	0
UBE2Q1	55585	broad.mit.edu	37	1	154524631	154524631	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:154524631C>T	uc001fff.1	-	7	995	c.904G>A	c.(904-906)Gat>Aat	p.D302N		NM_017582	NP_060052	Q7Z7E8	UB2Q1_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2Q family member 1 (UBE2Q1), mRNA.	302							ATP binding|protein binding|ubiquitin-protein ligase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	16	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			ATCTGGAGATCGTTGTGCAAA	0.493000														78			48		0	0	1	0	0
RETSAT	54884	broad.mit.edu	37	2	85571786	85571786	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:85571786C>T	uc002spd.3	-	6	1378	c.1187G>A	c.(1186-1188)gGc>gAc	p.G396D	RETSAT_uc010fge.3_Non-coding_Transcript|RETSAT_uc010ysm.2_Missense_Mutation_p.G335D	NM_017750	NP_060220	Q6NUM9	RETST_HUMAN	Homo sapiens retinol saturase (all-trans-retinol 13,14-reductase) (RETSAT), mRNA.	396					retinol metabolic process	endoplasmic reticulum membrane|nuclear outer membrane	all-trans-retinol 13,14-reductase activity|electron carrier activity			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30					Vitamin A(DB00162)	TTCCTTGGTGCCTCGCAGGCA	0.577000														35			15		0	0	1	0	0
PHIP	55023	broad.mit.edu	37	6	79655810	79655810	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:79655810A>G	uc011dyp.2	-	37	4761	c.4535T>C	c.(4534-4536)gTa>gCa	p.V1512A	PHIP_uc003piq.3_Missense_Mutation_p.V537A|PHIP_uc003pir.3_Missense_Mutation_p.V1513A|IRAK1BP1_uc010kbg.1_Non-coding_Transcript|PHIP_uc003pio.4_Missense_Mutation_p.V399A	NM_017934	NP_060404	Q8WWQ0	PHIP_HUMAN	Homo sapiens pleckstrin homology domain interacting protein (PHIP), mRNA.	1513					insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		AACTGGATCTACAACCACTCG	0.423000														60			16		0	0	1	0	0
MST1P9	11223	broad.mit.edu	37	1	17085798	17085798	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:17085798C>A	uc010ock.2	-	7	1023	c.1023G>T	c.(1021-1023)caG>caT	p.Q341H	CROCC_uc009voy.1_Intron|MST1P9_uc001azp.4_5'UTR					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9 (MST1P9), non-coding RNA.											breast(1)|endometrium(11)|kidney(9)|large_intestine(1)|lung(5)|pancreas(1)|prostate(4)|stomach(1)|urinary_tract(1)	34						AACGCCGGATCTGGTAGCAAA	0.677000														12			4		0.000602214	0.000641151	1	1	0
DNAJC6	9829	broad.mit.edu	37	1	65845091	65845091	+	Nonsense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:65845091G>T	uc001dce.1	+	4	751	c.550G>T	c.(550-552)Gaa>Taa	p.E184*	DNAJC6_uc001dcc.1_Nonsense_Mutation_p.E158*|DNAJC6_uc001dcd.1_Nonsense_Mutation_p.E127*|DNAJC6_uc010opc.1_Nonsense_Mutation_p.E114*	NM_014787	NP_055602	O75061	AUXI_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 6 (DNAJC6), mRNA.	127	Phosphatase tensin-type.				cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	SH3 domain binding|heat shock protein binding|protein tyrosine phosphatase activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						TTAGGTCTCAGAATGCAGTTG	0.453000														57			46		1.00001e-27	1.31461e-27	1	1	0
CPEB1	64506	broad.mit.edu	37	15	83215914	83215914	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:83215914T>G	uc002bit.3	-	9	1805	c.1668A>C	c.(1666-1668)aaA>aaC	p.K556N	CPEB1_uc002bir.3_Missense_Mutation_p.K421N|CPEB1_uc002bis.3_Missense_Mutation_p.K416N|CPEB1_uc010uod.2_Missense_Mutation_p.K265N|CPEB1_uc002biq.3_Missense_Mutation_p.K416N|CPEB1_uc010uoe.2_Missense_Mutation_p.K494N|CPEB1_uc002biu.3_Missense_Mutation_p.K518N|CPEB1_uc010uof.2_Missense_Mutation_p.K416N|CPEB1_uc002biv.3_Missense_Mutation_p.K491N|CPEB1_uc002bip.3_Missense_Mutation_p.K265N	NM_001079533	NP_001073001	Q9BZB8	CPEB1_HUMAN	Homo sapiens cytoplasmic polyadenylation element binding protein 1 (CPEB1), transcript variant 2, mRNA.	496	Necessary for stress granule assembly and correct localization in dcp1 bodies.				mRNA processing|regulation of translation	cell junction|cytoplasmic mRNA processing body|dendrite|postsynaptic density|postsynaptic membrane	RNA binding|nucleotide binding			breast(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(1)|skin(1)	28			BRCA - Breast invasive adenocarcinoma(143;0.229)			ACTTGGTGGTTTTGATCTCCA	0.493000														40			33		0	0	1	0	0
KCND3	3752	broad.mit.edu	37	1	112329661	112329661	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:112329661C>T	uc001ebu.1	-	2	1654	c.1174G>A	c.(1174-1176)Gtc>Atc	p.V392I	KCND3_uc001ebv.1_Missense_Mutation_p.V392I	NM_004980	NP_004971	Q9UK17	KCND3_HUMAN	Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 3 (KCND3), transcript variant 1, mRNA.	392						sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)		ATGACCAGGACGCCACTCAAG	0.517000														37			13		0	0	1	0	0
MPDZ	8777	broad.mit.edu	37	9	13168512	13168512	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:13168512A>G	uc010mia.1	-	20	3164	c.3107T>C	c.(3106-3108)aTt>aCt	p.I1036T	MPDZ_uc003zkz.4_5'UTR|MPDZ_uc010mhz.3_Missense_Mutation_p.I1036T|MPDZ_uc011lmn.2_Missense_Mutation_p.I1036T|MPDZ_uc010mhy.3_Missense_Mutation_p.I1036T|MPDZ_uc003zlb.4_Missense_Mutation_p.I1036T	NM_003829	NP_003820	O75970	MPDZ_HUMAN	Homo sapiens multiple PDZ domain protein (MPDZ), mRNA.	1036	PDZ 6.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		TCCATGAATAATGCTTCGAAC	0.403000														129			91		0	0	1	0	0
WIPF1	7456	broad.mit.edu	37	2	175440048	175440048	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:175440048C>A	uc002uiz.3	-	3	342	c.242G>T	c.(241-243)gGc>gTc	p.G81V	BC046497_uc002uiw.3_Intron|BC046497_uc002uix.1_Intron|WIPF1_uc002uja.3_Missense_Mutation_p.G81V|WIPF1_uc010fqt.1_Missense_Mutation_p.G81V|WIPF1_uc002ujc.1_Missense_Mutation_p.G81V|WIPF1_uc002ujb.2_Missense_Mutation_p.G81V|WIPF1_uc010zep.1_Missense_Mutation_p.G81V	NM_003387	NP_003378	O43516	WIPF1_HUMAN	Homo sapiens WAS/WASL interacting protein family, member 1 (WIPF1), transcript variant 1, mRNA.	81	Gly-rich.				actin polymerization or depolymerization|protein complex assembly	cytoplasmic membrane-bounded vesicle	actin binding|profilin binding			NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)	32						acctcctccgccaaatccgcc	0.617000														49			30		6.38683e-12	7.84313e-12	1	1	0
KBTBD5	131377	broad.mit.edu	37	3	42728038	42728038	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:42728038C>A	uc003clv.1	+	0	1028	c.928C>A	c.(928-930)Ctg>Atg	p.L310M		NM_152393	NP_689606	Q2TBA0	KBTB5_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 5 (KBTBD5), mRNA.	310										breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28				KIRC - Kidney renal clear cell carcinoma(284;0.214)		CAATGACACCCTGCGCTTCGG	0.577000														82			46		5.2432e-18	6.70654e-18	1	1	0
IKBKE	9641	broad.mit.edu	37	1	206647680	206647680	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:206647680G>A	uc001hdz.2	+	3	672	c.94G>A	c.(94-96)Gga>Aga	p.G32R	IKBKE_uc009xbu.2_Missense_Mutation_p.G32R|IKBKE_uc001hea.2_5'UTR|IKBKE_uc009xbv.2_Missense_Mutation_p.G32R	NM_014002	NP_001180250	Q14164	IKKE_HUMAN	Homo sapiens inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon (IKBKE), transcript variant 1, mRNA.	32	Protein kinase.				DNA damage response, signal transduction resulting in induction of apoptosis|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	PML body|cytosol|endosome membrane|plasma membrane	ATP binding|IkappaB kinase activity|NF-kappaB-inducing kinase activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2)	32	Breast(84;0.137)					GCAGAAATCCGGAGAGCTGGT	0.602000														25			28		0	0	1	0	0
NUDT12	83594	broad.mit.edu	37	5	102894605	102894605	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:102894605A>G	uc003koi.3	-	2	864	c.771T>C	c.(769-771)ctT>ctC	p.L257L	NUDT12_uc011cvb.2_Silent_p.L239L	NM_031438	NP_113626	Q9BQG2	NUD12_HUMAN	Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 12 (NUDT12), mRNA.	257						nucleus|peroxisome	NAD+ diphosphatase activity|metal ion binding			endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|urinary_tract(1)	12		all_cancers(142;6.38e-08)|all_epithelial(76;1.99e-10)|Prostate(80;0.0138)|Lung NSC(167;0.0212)|Colorectal(57;0.0247)|all_lung(232;0.0283)|Ovarian(225;0.0423)		Epithelial(69;9.3e-13)|COAD - Colon adenocarcinoma(37;0.0221)		TCAATTGCAGAAGGGCTGGCA	0.378000														29			8		0	0	1	0	0
NRAP	4892	broad.mit.edu	37	10	115372045	115372045	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:115372045G>A	uc001lal.3	-	29	3610	c.3446C>T	c.(3445-3447)gCa>gTa	p.A1149V	NRAP_uc009xyb.3_Intron|NRAP_uc001laj.3_Missense_Mutation_p.A1149V|NRAP_uc001lak.3_Missense_Mutation_p.A1114V	NM_198060	NP_932326	Q86VF7	NRAP_HUMAN	Homo sapiens nebulin-related anchoring protein (NRAP), transcript variant 2, mRNA.	1149						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		CAGGTCTTCTGCCAAGGAAGT	0.562000														44			33		0	0	1	0	0
ZMYM6	9204	broad.mit.edu	37	1	35457973	35457973	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:35457973C>A	uc001byh.3	-	14	2236	c.2008G>T	c.(2008-2010)Gat>Tat	p.D670Y	ZMYM6_uc001byf.1_Missense_Mutation_p.D670Y|ZMYM6_uc021olg.1_5'UTR|ZMYM6_uc010oht.2_Missense_Mutation_p.D573Y|ZMYM6_uc009vup.3_Missense_Mutation_p.D476Y|ZMYM6_uc009vuq.1_Missense_Mutation_p.D670Y	NM_007167	NP_009098	O95789	ZMYM6_HUMAN	Homo sapiens zinc finger, MYM-type 6 (ZMYM6), mRNA.	670					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				TTCATAGCATCTTCCTGTGTA	0.373000														45			31		4.15321e-07	4.76399e-07	1	1	0
DDX55	57696	broad.mit.edu	37	12	124094552	124094552	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:124094552G>A	uc001ufi.3	+	6	642	c.618G>A	c.(616-618)acG>acA	p.T206T	DDX55_uc001ufh.3_Silent_p.T59T|DDX55_uc001ufj.1_Silent_p.T59T|DDX55_uc001ufk.3_Silent_p.T59T	NM_020936	NP_065987	Q8NHQ9	DDX55_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 55 (DDX55), mRNA.	206	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|RNA binding	p.T206M(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	14	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000142)|Epithelial(86;0.000637)|all cancers(50;0.00772)		CCACTCAGACGCAGGAAGTGG	0.567000														31			20		0	0	1	0	0
XPO6	23214	broad.mit.edu	37	16	28187242	28187242	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:28187242C>T	uc002dpa.1	-	3	883	c.382G>A	c.(382-384)Gac>Aac	p.D128N	XPO6_uc002dpb.1_Missense_Mutation_p.D114N|XPO6_uc010vcp.1_Missense_Mutation_p.D128N	NM_015171	NP_055986	Q96QU8	XPO6_HUMAN	Homo sapiens exportin 6 (XPO6), mRNA.	128					protein export from nucleus		protein binding|protein transporter activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						GTAAAAAAGTCGTGGTAGAAC	0.378000														32			27		0	0	1	0	0
EHBP1L1	254102	broad.mit.edu	37	11	65347678	65347678	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:65347678G>A	uc001oeo.4	+	4	704	c.439G>A	c.(439-441)Gct>Act	p.A147T		NM_001099409	NP_001092879	Q8N3D4	EH1L1_HUMAN	Homo sapiens EH domain binding protein 1-like 1 (EHBP1L1), mRNA.	147										central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						GGTGGTGCAGGCTGAGCTGAG	0.667000														29			10		0	0	1	0	0
CCDC39	339829	broad.mit.edu	37	3	180337714	180337714	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:180337714C>T	uc010hxe.3	-	14	2158	c.2043G>A	c.(2041-2043)ttG>ttA	p.L681L	CCDC39_uc003fkn.3_Intron	NM_181426	NP_852091	Q9UFE4	CCD39_HUMAN	Homo sapiens coiled-coil domain containing 39 (CCDC39), mRNA.	681					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton		p.M680I(1)		NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			TCTTGGCATCCAAACAGTCAC	0.353000														15			7		0	0	1	0	0
HOXA9	3205	broad.mit.edu	37	7	27203268	27203268	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:27203268C>A	uc003syt.3	-	1	846	c.773G>T	c.(772-774)aGg>aTg	p.R258M	HOXA9_uc022aar.1_Non-coding_Transcript	NM_152739	NP_689952	P31269	HXA9_HUMAN	Homo sapiens homeobox A9 (HOXA9), mRNA.	258							protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|lung(5)|prostate(1)	8						CATTTTCATCCTGCGGTTCTG	0.463000			T	"""NUP98, MSI2"""	AML*									183			19		1.01871e-10	1.23424e-10	1	1	0
EPB41	2035	broad.mit.edu	37	1	29344862	29344862	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:29344862C>A	uc001brm.2	+	6	1159	c.1032C>A	c.(1030-1032)ctC>ctA	p.L344L	EPB41_uc001brg.2_Silent_p.L135L|EPB41_uc001brh.2_Silent_p.L135L|EPB41_uc001brj.2_Silent_p.L135L|EPB41_uc001bri.2_Silent_p.L309L|EPB41_uc009vtk.2_Silent_p.L309L|EPB41_uc001brk.3_Silent_p.L344L|EPB41_uc001brl.2_Silent_p.L344L|EPB41_uc021okg.1_Silent_p.L344L|EPB41_uc009vtm.2_5'UTR|EPB41_uc009vtl.2_Silent_p.L135L	NM_001166005	NP_001159477	P11171	41_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked) (EPB41), transcript variant 1, mRNA.	344	FERM.				blood circulation|cortical actin cytoskeleton organization|positive regulation of protein binding	Golgi apparatus|extrinsic to membrane|nucleus|plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	1-phosphatidylinositol binding|actin binding|spectrin binding|structural constituent of cytoskeleton			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1)	14		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)		ACCCAGAACTCCATGGCGTGG	0.453000														107			10		0.000673444	0.000715966	1	1	0
BRWD1	54014	broad.mit.edu	37	21	40572205	40572205	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:40572205C>T	uc002yxk.2	-	38	4988	c.4693G>A	c.(4693-4695)Ggg>Agg	p.G1565R	BRWD1_uc010goc.1_Missense_Mutation_p.G208R|BRWD1_uc021wjf.1_Missense_Mutation_p.G1565R	NM_018963	NP_061836	Q9NSI6	BRWD1_HUMAN	Homo sapiens bromodomain and WD repeat domain containing 1 (BRWD1), transcript variant 1, mRNA.	1565					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		p.G1565V(1)		cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				CTGGATAGCCCACTGCGTGAG	0.438000														57			31		0	0	1	0	0
ZNF142	7701	broad.mit.edu	37	2	219508951	219508951	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:219508951G>T	uc002vin.3	-	7	2724	c.2288C>A	c.(2287-2289)tCt>tAt	p.S763Y	ZNF142_uc002vil.3_Missense_Mutation_p.S724Y|ZNF142_uc010fvt.3_Missense_Mutation_p.S600Y|ZNF142_uc002vim.3_Missense_Mutation_p.S600Y	NM_001105537	NP_001099007	P52746	ZN142_HUMAN	Homo sapiens zinc finger protein 142 (ZNF142), mRNA.	763					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P763P(1)		breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		GGAGGGCTCAGACACTGGCTT	0.522000														80			47		5.7616e-29	7.58986e-29	1	1	0
JAKMIP1	152789	broad.mit.edu	37	4	6050601	6050601	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:6050601G>A	uc010idb.1	-	15	2497	c.2011C>T	c.(2011-2013)Ctt>Ttt	p.L671F	JAKMIP1_uc010idc.1_Missense_Mutation_p.L486F|JAKMIP1_uc010idd.1_Intron	NM_001099433	NP_001092903	Q96N16	JKIP1_HUMAN	Homo sapiens janus kinase and microtubule interacting protein 1 (JAKMIP1), transcript variant 1, mRNA.	442					protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CACAGGGCAAGCACAGTTCCA	0.463000														30			3		0	0	1	0	0
ZNF532	55205	broad.mit.edu	37	18	56586058	56586058	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:56586058G>T	uc010xeg.2	+	2	736	c.539G>T	c.(538-540)gGa>gTa	p.G180V	ZNF532_uc002lhp.3_Missense_Mutation_p.G178V|ZNF532_uc002lho.3_Missense_Mutation_p.G180V|ZNF532_uc002lhr.3_Missense_Mutation_p.G178V|ZNF532_uc002lhs.3_Missense_Mutation_p.G178V	NM_018181	NP_060651	Q9HCE3	ZN532_HUMAN	Homo sapiens zinc finger protein 532 (ZNF532), mRNA.	180					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						AAGGCACTCGGAGGGGAAAAC	0.507000														99			20		1.15919e-05	1.28923e-05	1	1	0
AHI1	54806	broad.mit.edu	37	6	135732581	135732581	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:135732581G>A	uc003qgi.3	-	20	3250	c.2866C>T	c.(2866-2868)Ccc>Tcc	p.P956S	AHI1_uc003qgf.3_Non-coding_Transcript|AHI1_uc003qgg.3_Missense_Mutation_p.P406S|AHI1_uc003qgh.3_Missense_Mutation_p.P956S|AHI1_uc003qgj.3_Missense_Mutation_p.P956S|AHI1_uc003qgk.4_Non-coding_Transcript|AHI1_uc003qgl.3_Missense_Mutation_p.P956S	NM_001134831	NP_060121	Q8N157	AHI1_HUMAN	Homo sapiens Abelson helper integration site 1 (AHI1), transcript variant 1, mRNA.	956						adherens junction|cilium|microtubule basal body				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		CCTTGATGGGGTAGTTTTGGA	0.428000														57			29		0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1268812	1268812	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:1268812A>G	uc001lta.3	+	30	10761	c.10702A>G	c.(10702-10704)Acc>Gcc	p.T3568A		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	3568	7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CACGGTGGTGACCACGGGCTG	0.662000														33			11		0	0	1	0	0
TJP1	7082	broad.mit.edu	37	15	30024971	30024971	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:30024971G>A	uc001zcr.3	-	13	2260	c.1785C>T	c.(1783-1785)ggC>ggT	p.G595G	TJP1_uc010azl.3_Silent_p.G583G|TJP1_uc001zcq.3_Silent_p.G599G|TJP1_uc001zcs.3_Silent_p.G595G	NM_003257	NP_003248	Q07157	ZO1_HUMAN	Homo sapiens tight junction protein 1 (zona occludens 1) (TJP1), transcript variant 1, mRNA.	595					cell-cell junction assembly|cellular component disassembly involved in apoptosis	Golgi apparatus|basolateral plasma membrane|cell-cell adherens junction|tight junction				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		CACGGTCTCCGCCTGCTGTTT	0.438000														30			16		0	0	1	0	0
TET2	54790	broad.mit.edu	37	4	106155691	106155691	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:106155691G>A	uc011cez.2	+	2	1060	c.655G>A	c.(655-657)Gta>Ata	p.V219I	TET2_uc003hxk.3_Missense_Mutation_p.V198I|TET2_uc003hxj.2_Non-coding_Transcript|TET2_uc021xqk.1_Missense_Mutation_p.V198I|TET2_uc010ilp.2_Missense_Mutation_p.V198I|TET2_uc021xql.1_Missense_Mutation_p.V198I	NM_001127208	NP_001120680	Q6N021	TET2_HUMAN	Homo sapiens tet methylcytosine dioxygenase 2 (TET2), transcript variant 1, mRNA.	198					cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.V218fs*32(3)|p.V218fs*34(1)|p.V218fs*7(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		CAAGAACATTGTATTACTTAA	0.428000			"""Mis N, F"""		MDS									31			11		0	0	1	0	0
TYRP1	7306	broad.mit.edu	37	9	12702354	12702354	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:12702354G>A	uc003zkv.4	+	4	1175	c.997G>A	c.(997-999)Gtc>Atc	p.V333I		NM_000550	NP_000541	P17643	TYRP1_HUMAN	Homo sapiens tyrosinase-related protein 1 (TYRP1), mRNA.	333					melanin biosynthetic process	clathrin-coated endocytic vesicle membrane|endosome membrane|integral to membrane|melanosome membrane	copper ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen|protein heterodimerization activity|protein homodimerization activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1)	22		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)		GBM - Glioblastoma multiforme(50;9.85e-06)		ACCACAGGATGTCGCTCAGTG	0.463000									Oculocutaneous Albinism					30			17		0	0	1	0	0
SET	6418	broad.mit.edu	37	9	131456919	131456919	+	Splice_Site	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:131456919G>T	uc004bvt.4	+	8	1091	c.850_splice	c.e8-1	p.E284_splice	SET_uc022bol.1_Splice_Site_p.E262_splice|SET_uc004bvu.4_Splice_Site_p.E271_splice|SET_uc011mbj.2_Splice_Site_p.E260_splice	NM_001122821	NP_001116293	Q01105	SET_HUMAN	Homo sapiens SET nuclear oncogene (SET), transcript variant 1, mRNA.	284	Asp/Glu-rich (highly acidic).	Breakpoint for translocation to form SET- CAN oncogene.			DNA replication|mRNA metabolic process|negative regulation of histone acetylation|negative regulation of neuron apoptosis|negative regulation of transcription, DNA-dependent|nucleocytoplasmic transport|nucleosome assembly|nucleosome disassembly	cytosol|endoplasmic reticulum|nucleoplasm|perinuclear region of cytoplasm|protein complex	histone binding|protein phosphatase inhibitor activity|protein phosphatase type 2A regulator activity			endometrium(2)|kidney(1)|lung(2)	5		Myeloproliferative disorder(178;0.204)		GBM - Glioblastoma multiforme(294;3.1e-09)		TTTTCTTTCAGGAGGATGAAG	0.443000			T	NUP214	AML									84			8		0.00307968	0.00322291	1	1	0
RPS6KL1	83694	broad.mit.edu	37	14	75376485	75376485	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:75376485C>T	uc010tux.2	-	6	1559	c.1031G>A	c.(1030-1032)gGg>gAg	p.G344E	RPS6KL1_uc010asd.2_Non-coding_Transcript|RPS6KL1_uc001xqx.1_Missense_Mutation_p.G96E|RPS6KL1_uc021rwp.1_Missense_Mutation_p.G313E	NM_031464	NP_113652	Q9Y6S9	RPKL1_HUMAN	Homo sapiens ribosomal protein S6 kinase-like 1 (RPS6KL1), mRNA.	344	Protein kinase.					ribosome	ATP binding|protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(234;0.00658)		CCAAGTGAGCCCCCGAGGGGG	0.692000														12			5		0	0	1	0	0
APC	324	broad.mit.edu	37	5	112176148	112176148	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:112176148A>G	uc003kpz.4	+	16	5050	c.4857A>G	c.(4855-4857)ccA>ccG	p.P1619P	APC_uc011cvt.2_Silent_p.P1601P|APC_uc003kpy.4_Silent_p.P1619P|APC_uc010jbz.3_Silent_p.P1336P|APC_uc010jca.3_Silent_p.P919P	NM_001127510	NP_001120982	P25054	APC_HUMAN	Homo sapiens adenomatous polyposis coli (APC), transcript variant 2, mRNA.	1619	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|adherens junction|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.K1192fs*3(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		AACTTCTACCATCACAAAACA	0.453000		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)				176			15		0	0	1	0	0
ERBB3	2065	broad.mit.edu	37	12	56493456	56493456	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56493456G>A	uc001sjh.3	+	23	3140	c.2864G>A	c.(2863-2865)cGc>cAc	p.R955H	ERBB3_uc009zoj.3_Intron|ERBB3_uc010sqb.2_Missense_Mutation_p.R312H|ERBB3_uc010sqc.2_Missense_Mutation_p.R896H|ERBB3_uc009zok.3_Missense_Mutation_p.R220H|ERBB3_uc001sjk.3_Missense_Mutation_p.R196H|ERBB3_uc001sjl.3_Missense_Mutation_p.R75H	NM_001982	NP_001973	P21860	ERBB3_HUMAN	Homo sapiens v-erb-b2 erythroblastic leukemia viral oncogene homolog 3 (avian) (ERBB3), transcript variant 1, mRNA.	955	Protein kinase.				Schwann cell differentiation|cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			GAGAACATTCGCCCAACCTTT	0.493000														37			15		0	0	1	0	0
MFSD6L	162387	broad.mit.edu	37	17	8702265	8702265	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:8702265G>A	uc002glp.2	-	0	403	c.174C>T	c.(172-174)atC>atT	p.I58I		NM_152599	NP_689812	Q8IWD5	MFS6L_HUMAN	Homo sapiens major facilitator superfamily domain containing 6-like (MFSD6L), mRNA.	58						integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|skin(4)	17						AGAAGGCAGCGATTAGGTGCT	0.652000														37			32		0	0	1	0	0
FRMPD3	84443	broad.mit.edu	37	X	106845450	106845450	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:106845450G>A	uc022cce.1	+	0	1816	c.1448G>A	c.(1447-1449)cGc>cAc	p.R483H				Q5JV73	FRPD3_HUMAN	Homo sapiens mRNA for KIAA1817 protein, partial cds.	1427	FERM.					cytoskeleton				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						CTGATGCGCCGCTACAGTATC	0.627000														32			29		0	0	1	0	0
COL18A1	80781	broad.mit.edu	37	21	46932214	46932214	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:46932214C>T	uc002zhi.3	+	40	4483	c.4462C>T	c.(4462-4464)Ctg>Ttg	p.L1488L	COL18A1_uc002zhg.3_Silent_p.L1308L|SLC19A1_uc010gpy.1_Intron|COL18A1_uc002zhj.3_Silent_p.L286L|COL18A1_uc002zhk.3_Silent_p.L130L	NM_030582	NP_085059	P39060	COIA1_HUMAN	Homo sapiens collagen, type XVIII, alpha 1 (COL18A1), transcript variant 1, mRNA.	1723	Nonhelical region 11 (NC11).				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		GGCCTCCTCGCTGCTGGGGGG	0.672000														13			4		0	0	1	0	0
YWHAQ	10971	broad.mit.edu	37	2	9770415	9770415	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:9770415C>A	uc002qzx.3	-	1	286	c.167G>T	c.(166-168)aGg>aTg	p.R56M		NM_006826	NP_006817	P27348	1433T_HUMAN	Homo sapiens tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta polypeptide (YWHAQ), mRNA.	56		Interaction with phosphoserine on interacting protein.			negative regulation of transcription, DNA-dependent	centrosome|nucleus	protein N-terminus binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.241)		CCAGGCGGACCTGCGGCCCCC	0.612000														33			4		0.00116845	0.00123466	1	1	0
WDR7	23335	broad.mit.edu	37	18	54629713	54629713	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:54629713C>T	uc002lgk.1	+	25	4328	c.4117C>T	c.(4117-4119)Cgc>Tgc	p.R1373C	WDR7_uc002lgl.1_Missense_Mutation_p.R1340C	NM_015285	NP_056100	Q9Y4E6	WDR7_HUMAN	Homo sapiens WD repeat domain 7 (WDR7), transcript variant 1, mRNA.	1373										NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		AGTTGGAGCTCGCCATGGTTC	0.423000														24			19		0	0	1	0	0
CASZ1	54897	broad.mit.edu	37	1	10706199	10706199	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:10706199G>T	uc001aro.3	-	16	4002	c.3682C>A	c.(3682-3684)Ctc>Atc	p.L1228I		NM_001079843	NP_001073312	Q86V15	CASZ1_HUMAN	Homo sapiens castor zinc finger 1 (CASZ1), transcript variant 1, mRNA.	1228					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)		TTGGGACAGAGACACTGCAGA	0.602000														45			4		0.00909568	0.00940365	1	1	0
PHRF1	57661	broad.mit.edu	37	11	608157	608157	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:608157G>A	uc001lqe.3	+	13	2832	c.2701G>A	c.(2701-2703)Gcc>Acc	p.A901T	PHRF1_uc010qwc.2_Missense_Mutation_p.A900T|PHRF1_uc010qwd.2_Missense_Mutation_p.A899T|PHRF1_uc010qwe.2_Missense_Mutation_p.A897T|PHRF1_uc009ybz.1_Missense_Mutation_p.A691T|PHRF1_uc009yca.2_Non-coding_Transcript	NM_020901	NP_065952	Q9P1Y6	PHRF1_HUMAN	Homo sapiens PHD and ring finger domains 1 (PHRF1), mRNA.	901							RNA polymerase binding|zinc ion binding	p.A906S(1)|p.A901S(1)		breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						ACCGTCCTCCGCCATGTCCAA	0.692000														37			29		0	0	1	0	0
CNNM4	26504	broad.mit.edu	37	2	97427600	97427600	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:97427600G>T	uc002swx.3	+	0	962	c.864G>T	c.(862-864)caG>caT	p.Q288H		NM_020184	NP_064569	Q6P4Q7	CNNM4_HUMAN	Homo sapiens cyclin M4 (CNNM4), mRNA.	288	DUF21.				biomineral tissue development|ion transport|response to stimulus|visual perception	integral to membrane|plasma membrane				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						TCCTACCTCAGGCCCTGTGCT	0.557000														82			8		5.4927e-09	6.49148e-09	1	1	0
SLC12A5	57468	broad.mit.edu	37	20	44674605	44674605	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:44674605C>T	uc010zxl.1	+	12	1803	c.1727C>T	c.(1726-1728)tCc>tTc	p.S576F	SLC12A5_uc010zxm.1_Non-coding_Transcript|SLC12A5_uc002xrb.2_Missense_Mutation_p.S553F	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporter), member 5 (SLC12A5), transcript variant 1, mRNA.	576					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity	p.A575V(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	CTCATTGCATCCCTCGACGAG	0.592000														76			35		0	0	1	0	0
TAS2R9	50835	broad.mit.edu	37	12	10962280	10962280	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:10962280G>A	uc001qyx.3	-	0	488	c.395C>T	c.(394-396)gCg>gTg	p.A132V	TAS2R8_uc010shh.2_5'Flank	NM_023917	NP_076406	Q9NYW1	TA2R9_HUMAN	Homo sapiens taste receptor, type 2, member 9 (TAS2R9), mRNA.	132					sensory perception of taste	integral to membrane	taste receptor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						CAGAAGAATCGCAAGCATGAC	0.358000														33			17		0	0	1	0	0
RAD54B	25788	broad.mit.edu	37	8	95412549	95412549	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:95412549G>A	uc003ygk.3	-	6	1218	c.1087C>T	c.(1087-1089)Cct>Tct	p.P363S	RAD54B_uc010may.2_Missense_Mutation_p.P179S|RAD54B_uc003ygl.2_Non-coding_Transcript	NM_012415	NP_001192192	O95073	FSBP_HUMAN	Homo sapiens RAD54 homolog B (S. cerevisiae) (RAD54B), transcript variant 1, mRNA.	0					double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA translocase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			AAGCTTCCAGGTGTGACAATT	0.393000								Direct reversal of damage;Homologous recombination						48			8		0	0	1	0	0
PTGFR	5737	broad.mit.edu	37	1	79002278	79002278	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:79002278G>T	uc001din.3	+	2	1252	c.986G>T	c.(985-987)aGc>aTc	p.S329I	PTGFR_uc001dim.3_3'UTR	NM_000959	NP_000950	P43088	PF2R_HUMAN	Homo sapiens prostaglandin F receptor (FP) (PTGFR), transcript variant 1, mRNA.	329					parturition	extracellular region|integral to plasma membrane	prostaglandin F receptor activity			breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287)	CATGTCATCAGCTTACATATT	0.388000														149			7		2.17888e-05	2.40634e-05	1	1	0
COL11A2	1302	broad.mit.edu	37	6	33146457	33146457	+	Splice_Site	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:33146457C>A	uc003ocx.1	-	18	1947	c.1719_splice	c.e18+1	p.R573_splice	COL11A2_uc010jul.1_5'Flank|COL11A2_uc003ocy.1_Splice_Site_p.R487_splice|COL11A2_uc003ocz.1_Splice_Site_p.R466_splice	NM_080680	NP_542411	P13942	COBA2_HUMAN	Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA.	573	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						TGTACTCACCCTATGGCCCTT	0.557000														179			13		0.000151284	0.000164177	1	1	0
TRHDE	29953	broad.mit.edu	37	12	72863578	72863578	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:72863578G>T	uc001sxa.3	+	3	1251	c.1221G>T	c.(1219-1221)gaG>gaT	p.E407D		NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	Homo sapiens thyrotropin-releasing hormone degrading enzyme (TRHDE), mRNA.	407	Substrate binding (By similarity).				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						CTGCTATGGAGAACTGGGGAC	0.373000														68			33		3.62531e-18	4.63952e-18	1	1	0
LILRB1	10859	broad.mit.edu	37	19	55146618	55146618	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:55146618G>A	uc002qgj.3	+	11	1887	c.1547G>A	c.(1546-1548)gGc>gAc	p.G516D	LILRB1_uc010erp.1_Missense_Mutation_p.G131D|LILRB1_uc002qgl.3_Missense_Mutation_p.G516D|LILRB1_uc002qgk.3_Missense_Mutation_p.G517D|LILRB1_uc002qgm.3_Missense_Mutation_p.G517D|LILRB1_uc010erq.3_Missense_Mutation_p.G500D|LILRB1_uc010err.3_Intron	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.	516					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)		ACAGACAGAGGCCTGCAGTGG	0.617000										HNSCC(37;0.09)				27			12		0	0	1	0	0
AOX1	316	broad.mit.edu	37	2	201524722	201524722	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:201524722C>T	uc002uvx.3	+	28	3406	c.3305C>T	c.(3304-3306)gCc>gTc	p.A1102V	AOX1_uc010zhf.2_Missense_Mutation_p.A658V|AOX1_uc010fsu.3_Missense_Mutation_p.A468V	NM_001159	NP_001150	Q06278	ADO_HUMAN	Homo sapiens aldehyde oxidase 1 (AOX1), mRNA.	1102					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|NAD binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|xanthine dehydrogenase activity			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	CTCTAGGATGCCTGTCAAACT	0.338000														30			8		0	0	1	0	0
UBL7	84993	broad.mit.edu	37	15	74748994	74748994	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:74748994C>T	uc002axw.1	-	2	365	c.203G>A	c.(202-204)cGg>cAg	p.R68Q	UBL7_uc002axx.1_Missense_Mutation_p.R108Q|UBL7_uc002axy.1_Missense_Mutation_p.R68Q|UBL7_uc002axz.1_Missense_Mutation_p.R68Q	NM_032907	NP_957717	Q96S82	UBL7_HUMAN	Homo sapiens ubiquitin-like 7 (bone marrow stromal cell-derived) (UBL7), transcript variant 1, mRNA.	68	Ubiquitin-like.						protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9						TTTTAGCTTCCGACCACAGTA	0.413000														67			35		0	0	1	0	0
CSNK1A1	1452	broad.mit.edu	37	5	148885022	148885022	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:148885022T>G	uc003lqw.1	-	9	1558	c.1078A>C	c.(1078-1080)Agt>Cgt	p.S360R	CSNK1A1_uc011dcb.1_Intron|CSNK1A1_uc011dcc.2_Missense_Mutation_p.S271R|CSNK1A1_uc003lqx.1_Missense_Mutation_p.S332R|CSNK1A1_uc003lqy.1_Intron|CSNK1A1_uc010jha.1_Missense_Mutation_p.S332R	NM_001025105	NP_001020276	P48729	KC1A_HUMAN	Homo sapiens casein kinase 1, alpha 1 (CSNK1A1), transcript variant 1, mRNA.	332					Wnt receptor signaling pathway|cell division|mitosis	centrosome|condensed chromosome kinetochore|cytosol|nuclear speck	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(4)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)		TTCATGTTACTCTTGGTTTTG	0.448000														43			23		0	0	1	0	0
ITGAV	3685	broad.mit.edu	37	2	187495528	187495528	+	Missense_Mutation	SNP	T	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:187495528T>A	uc002upq.3	+	4	804	c.528T>A	c.(526-528)gaT>gaA	p.D176E	ITGAV_uc010frs.3_Intron|ITGAV_uc010zfv.2_Missense_Mutation_p.D130E	NM_002210	NP_002201	P06756	ITAV_HUMAN	Homo sapiens integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51) (ITGAV), transcript variant 1, mRNA.	176					ERK1 and ERK2 cascade|angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)		TTTTAGAAGATATTGATGCTG	0.294000														185			18		0	0	1	0	0
TRMT2A	27037	broad.mit.edu	37	22	20100486	20100486	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:20100486G>A	uc002zrk.1	-	11	1809	c.1594C>T	c.(1594-1596)Cgg>Tgg	p.R532W	TRMT2A_uc002zrl.1_Missense_Mutation_p.R532W	NM_182984	NP_892029	Q8IZ69	TRM2A_HUMAN	Homo sapiens TRM2 tRNA methyltransferase 2 homolog A (S. cerevisiae) (TRMT2A), transcript variant 2, mRNA.	532					RNA processing		RNA binding|RNA methyltransferase activity|nucleotide binding			breast(2)|endometrium(2)|lung(5)	9						TACAGCAGCCGCCTGAGGTTC	0.607000														36			26		0	0	1	0	0
CD209	30835	broad.mit.edu	37	19	7809028	7809028	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:7809028C>T	uc002mht.2	-	5	1045	c.978G>A	c.(976-978)acG>acA	p.T326T	CD209_uc010xju.1_Silent_p.T165T|CD209_uc010dvp.2_Intron|CD209_uc002mhr.2_Silent_p.T302T|CD209_uc002mhs.2_Silent_p.T256T|CD209_uc002mhu.2_Silent_p.T234T|CD209_uc010dvq.2_Silent_p.T320T|CD209_uc002mhq.2_Silent_p.T326T|CD209_uc002mhv.2_Silent_p.T302T|CD209_uc002mhx.2_Silent_p.T282T|CD209_uc002mhw.2_Silent_p.T190T|CD209_uc010dvr.2_Silent_p.T90T	NM_021155	NP_066978	Q9NNX6	CD209_HUMAN	Homo sapiens CD209 molecule (CD209), transcript variant 1, mRNA.	326	C-type lectin.				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CCCATTGCCACGTGCCTTCCT	0.522000														45			19		0	0	1	0	0
CLDN22	53842	broad.mit.edu	37	4	184240733	184240733	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:184240733C>T	uc010isa.1	-	0	1195	c.639G>A	c.(637-639)acG>acA	p.T213T	WWC2_uc010irx.3_3'UTR|WWC2_uc003ivk.4_3'UTR|WWC2_uc003ivl.4_Non-coding_Transcript|WWC2_uc010iry.3_3'UTR|WWC2_uc003ivn.4_3'UTR|WWC2_uc010irz.3_3'UTR|WWC2_uc003ivo.4_3'UTR	NM_001111319	NP_001104789	Q8N7P3	CLD22_HUMAN	Homo sapiens claudin 22 (CLDN22), mRNA.	213					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			cervix(1)|kidney(1)|lung(3)|prostate(1)|skin(1)	7		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.0172)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)|Esophageal squamous(56;0.176)		all cancers(43;4.1e-26)|Epithelial(43;6.45e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|Colorectal(24;5.87e-06)|GBM - Glioblastoma multiforme(59;6.5e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		TGGTGTTTCTCGTCTCCAGTT	0.542000														202			99		0	0	1	0	0
MTUS2	23281	broad.mit.edu	37	13	29933491	29933491	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:29933491C>T	uc001usl.4	+	5	3086	c.3028C>T	c.(3028-3030)Cgg>Tgg	p.R1010W		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	Homo sapiens microtubule associated tumor suppressor candidate 2 (MTUS2), transcript variant 1, mRNA.	1000	Localization to the growing distal tip of microtubules.					cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						GCTGGTGCTGCGGCTGAAGGA	0.657000														2			5		0	0	1	0	0
C4orf50	389197	broad.mit.edu	37	4	5977631	5977631	+	RNA	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:5977631G>T	uc003git.2	-	2		c.1518C>A						Q6ZRC1	CD050_HUMAN	Homo sapiens cDNA FLJ46481 fis, clone THYMU3025772.											breast(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(2)|skin(3)|urinary_tract(1)	15						ATTACCTTCAGGGGAGTCACT	0.363000														57			6		0.0215528	0.0220531	1	1	0
NNAT	4826	broad.mit.edu	37	20	36151087	36151087	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:36151087C>T	uc002xhd.3	+	2	299	c.172C>T	c.(172-174)Cag>Tag	p.Q58*	BLCAP_uc021wde.1_Intron|BLCAP_uc021wdf.1_Intron|BLCAP_uc002xhb.3_Intron|BLCAP_uc002xha.3_Intron|BLCAP_uc002xhc.3_Intron|NNAT_uc002xhe.3_Nonsense_Mutation_p.Q31*	NM_005386	NP_005377	Q16517	NNAT_HUMAN	Homo sapiens neuronatin (NNAT), transcript variant 1, mRNA.	58					brain development|protein lipoylation|transport					endometrium(1)|kidney(1)|lung(1)	3		Myeloproliferative disorder(115;0.00878)				GTACTCCCTGCAGAAGCTGGC	0.692000														6			4		0	0	1	0	0
DUOX1	53905	broad.mit.edu	37	15	45434273	45434273	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:45434273C>T	uc001zus.1	+	15	2131	c.1785C>T	c.(1783-1785)ttC>ttT	p.F595F	DUOX1_uc001zut.1_Silent_p.F595F|DUOX1_uc010bee.1_5'UTR	NM_017434	NP_787954	Q9NRD9	DUOX1_HUMAN	Homo sapiens dual oxidase 1 (DUOX1), transcript variant 1, mRNA.	595					cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	NAD(P)H oxidase activity|NADP binding|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|peroxidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		GATTTGGCTTCGGGGTCACCA	0.577000														42			38		0	0	1	0	0
GPHN	10243	broad.mit.edu	37	14	67382747	67382747	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:67382747G>A	uc001xiy.3	+	5	1538	c.417G>A	c.(415-417)acG>acA	p.T139T	GPHN_uc001xiw.3_Silent_p.T121T|GPHN_uc001xix.3_Silent_p.T139T|GPHN_uc010tss.2_Silent_p.T152T|GPHN_uc010tst.2_Silent_p.T108T|GPHN_uc010tsu.2_Silent_p.T29T	NM_001024218	NP_001019389	Q9NQX3	GEPH_HUMAN	Homo sapiens gephyrin (GPHN), transcript variant 2, mRNA.	139	MPT Mo-transferase.				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cell junction|cytoplasm|cytoskeleton|postsynaptic membrane	ATP binding|metal ion binding|nucleotidyltransferase activity			large_intestine(8)|liver(1)|ovary(2)|stomach(1)	12		all_cancers(7;0.0476)|all_hematologic(31;0.0116)		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)		GAGGGAAAACGCTCATAATTA	0.378000			T	MLL	AL									36			13		0	0	1	0	0
KIFC3	3801	broad.mit.edu	37	16	57799471	57799471	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:57799471A>C	uc002emq.3	-	10	1609	c.1412T>G	c.(1411-1413)tTc>tGc	p.F471C	KIFC3_uc010vhw.2_Missense_Mutation_p.F369C|KIFC3_uc002emn.3_Non-coding_Transcript|KIFC3_uc002emm.3_Missense_Mutation_p.F332C|KIFC3_uc010vhx.2_Missense_Mutation_p.F332C|KIFC3_uc010cdf.3_Missense_Mutation_p.F332C|KIFC3_uc002emo.4_Missense_Mutation_p.F332C|KIFC3_uc010vhy.2_Missense_Mutation_p.F413C|KIFC3_uc002emp.3_Missense_Mutation_p.F471C|KIFC3_uc010vhz.2_Missense_Mutation_p.F493C|KIFC3_uc002emr.1_Missense_Mutation_p.F248C	NM_001130100	NP_001123571	Q9BVG8	KIFC3_HUMAN	Homo sapiens kinesin family member C3 (KIFC3), transcript variant 2, mRNA.	471	Kinesin-motor.				epithelial cell-cell adhesion|microtubule-based movement|visual perception|zonula adherens maintenance	centrosome|cytoplasmic vesicle membrane|kinesin complex|microtubule|zonula adherens	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(3)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(199;0.224)				GTCGGCATCGAAAGTCACAGC	0.592000														2			7		0	0	1	0	0
HIST1H2BG	8339	broad.mit.edu	37	6	26216597	26216597	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:26216597G>A	uc003ngz.2	-	0	276	c.275C>T	c.(274-276)tCc>tTc	p.S92F	HIST1H2AE_uc003nha.1_5'Flank	NM_003518	NP_003517	P62807	H2B1C_HUMAN	Homo sapiens histone cluster 1, H2bg (HIST1H2BG), mRNA.	92					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	p.S92C(2)		endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	8		all_hematologic(11;0.196)				GATCTCCCTGGAGGTAATGGT	0.582000														74			7		0	0	1	0	0
ANKRD13D	338692	broad.mit.edu	37	11	67068588	67068588	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:67068588C>T	uc001okd.2	+	10	1371	c.1201C>T	c.(1201-1203)Cgc>Tgc	p.R401C	ANKRD13D_uc001okc.2_Missense_Mutation_p.R314C|ANKRD13D_uc001oke.2_Missense_Mutation_p.R314C|ANKRD13D_uc001okg.2_Missense_Mutation_p.R97C|ANKRD13D_uc001okh.2_Missense_Mutation_p.R97C|ANKRD13D_uc001oki.2_Missense_Mutation_p.R51C|SSH3_uc001okj.3_5'Flank|SSH3_uc001okk.3_5'Flank|SSH3_uc001okl.3_5'Flank	NM_207354	NP_997237	Q6ZTN6	AN13D_HUMAN	Homo sapiens ankyrin repeat domain 13 family, member D (ANKRD13D), transcript variant 1, mRNA.	314										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1)	9			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			CATCACTCTGCGCCTTCCACC	0.622000														23			14		0	0	1	0	0
CRB3	92359	broad.mit.edu	37	19	6465560	6465560	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:6465560G>T	uc002mez.3	+	2	283	c.87G>T	c.(85-87)caG>caT	p.Q29H	CRB3_uc002mey.3_Missense_Mutation_p.Q29H|CRB3_uc002mfa.3_Missense_Mutation_p.Q29H	NM_174881	NP_777377	Q9BUF7	CRUM3_HUMAN	Homo sapiens crumbs homolog 3 (Drosophila) (CRB3), transcript variant 3, mRNA.	29					protein localization in plasma membrane|tight junction assembly	apical plasma membrane|integral to membrane|tight junction	SH3 domain binding			endometrium(1)|large_intestine(1)|lung(1)	3						CCACAGTACAGACCACTTCTG	0.532000														285			32		1.56442e-22	2.03218e-22	1	1	0
TNPO1	3842	broad.mit.edu	37	5	72185660	72185660	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:72185660A>G	uc003kck.4	+	13	1724	c.1577A>G	c.(1576-1578)tAc>tGc	p.Y526C	TNPO1_uc011csj.1_Missense_Mutation_p.Y476C|TNPO1_uc003kci.4_Missense_Mutation_p.Y518C|TNPO1_uc003kcg.4_Missense_Mutation_p.Y518C	NM_002270	NP_694858	Q92973	TNPO1_HUMAN	Homo sapiens transportin 1 (TNPO1), transcript variant 1, mRNA.	526					interspecies interaction between organisms|mRNA metabolic process|protein import into nucleus, translocation	cytosol|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(6)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	36		Lung NSC(167;0.0053)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)		CTTGTTCCTTACCTTGCTTAT	0.348000														56			41		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179500811	179500811	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179500811G>A	uc021vsy.1	-	174	34008	c.33783C>T	c.(33781-33783)ggC>ggT	p.G11261G	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Silent_p.G4956G|TTN_uc021vta.1_Silent_p.G4889G|TTN_uc021vtb.1_Silent_p.G4764G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	12188	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.G11261G(1)|p.G4889G(1)|p.G4956G(1)|p.G4764G(1)		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)			AGCCAATGACGCCTGGCACAA	0.507000														49			22		0	0	1	0	0
CD180	4064	broad.mit.edu	37	5	66481846	66481846	+	Splice_Site	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:66481846C>A	uc003juy.2	-	2	239	c.91_splice	c.e2-1	p.K31_splice		NM_005582	NP_005573	Q99467	CD180_HUMAN	Homo sapiens CD180 molecule (CD180), mRNA.	31					inflammatory response|innate immune response	integral to membrane|plasma membrane	receptor activity			cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2)	34		Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234)		Lung(70;0.0046)		TGGCTTCTTTctgatgggaga	0.313000														43			26		3.01185e-09	3.57228e-09	1	1	0
ZNF329	79673	broad.mit.edu	37	19	58640145	58640145	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58640145C>A	uc002qrn.3	-	3	963	c.726G>T	c.(724-726)aaG>aaT	p.K242N	ZNF329_uc010euk.1_Non-coding_Transcript|ZNF329_uc002qro.1_Non-coding_Transcript|ZNF329_uc002qrp.1_Non-coding_Transcript|ZNF329_uc021vcv.1_Missense_Mutation_p.K242N	NM_024620	NP_078896	Q86UD4	ZN329_HUMAN	Homo sapiens zinc finger protein 329 (ZNF329), mRNA.	242					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|large_intestine(10)|lung(5)|skin(3)|urinary_tract(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216)		GGTTGTAGTTCTTGGAGAAGG	0.448000														84			61		1.80625e-27	2.37377e-27	1	1	0
C12orf52	84934	broad.mit.edu	37	12	113629341	113629341	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:113629341G>A	uc001tur.1	+	3	997	c.529G>A	c.(529-531)Gcg>Acg	p.A177T		NM_032848	NP_116237	Q96K30	RITA_HUMAN	Homo sapiens chromosome 12 open reading frame 52 (C12orf52), mRNA.	177	Interaction with tubulin.				Notch signaling pathway|negative regulation of Notch signaling pathway|negative regulation of transcription from RNA polymerase II promoter|neurogenesis|nuclear export	centrosome|nucleus	tubulin binding			large_intestine(2)|lung(1)|prostate(1)|urinary_tract(1)	5						GCCGGGGCCAGCGGCAGACTC	0.647000														28			4		0	0	1	0	0
GABRD	2563	broad.mit.edu	37	1	1961455	1961455	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:1961455C>A	uc001aip.2	+	8	1188	c.1093C>A	c.(1093-1095)Ctc>Atc	p.L365I		NM_000815	NP_000806	O14764	GBRD_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, delta (GABRD), mRNA.	365						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity	p.S364F(1)		central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		CCTCTTCTCCCTCTCTGCTGC	0.692000														29			7		3.09899e-07	3.55757e-07	1	1	0
AKTIP	64400	broad.mit.edu	37	16	53532473	53532473	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:53532473G>A	uc002ehm.3	-	2	260	c.78C>T	c.(76-78)gaC>gaT	p.D26D	AKTIP_uc002ehk.3_Silent_p.D26D|AKTIP_uc002ehl.3_Silent_p.D26D|AKTIP_uc010vgx.2_Silent_p.D26D	NM_022476	NP_071921	Q9H8T0	AKTIP_HUMAN	Homo sapiens AKT interacting protein (AKTIP), transcript variant 2, mRNA.	26					apoptosis|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|positive regulation of protein binding|positive regulation of protein phosphorylation|protein transport	FHF complex|plasma membrane	acid-amino acid ligase activity|protein binding	p.D26H(1)		large_intestine(1)|lung(2)|prostate(2)	5		all_cancers(37;0.14)				TGGTTTTCACGTCCCCTGTTA	0.418000														51			42		0	0	1	0	0
UTRN	7402	broad.mit.edu	37	6	144803408	144803408	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:144803408T>C	uc003qkt.3	+	25	3663	c.3571T>C	c.(3571-3573)Tta>Cta	p.L1191L		NM_007124	NP_009055	P46939	UTRO_HUMAN	Homo sapiens utrophin (UTRN), mRNA.	1191					muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		CAACATCAAGTTATTAGCTGC	0.448000														32			20		0	0	1	0	0
INPP5D	3635	broad.mit.edu	37	2	233986949	233986949	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:233986949G>A	uc010zmo.2	+	2	484	c.331G>A	c.(331-333)Gac>Aac	p.D111N	INPP5D_uc010zmp.2_Missense_Mutation_p.D111N	NM_001017915	NP_001017915	Q92835	SHIP1_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase, 145kDa (INPP5D), transcript variant 1, mRNA.	111					T cell receptor signaling pathway|apoptosis|blood coagulation|leukocyte migration	cytosol	SH3 domain binding|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		CACAGGCGACGACCCTGAGGA	0.567000														15			12		0	0	1	0	0
PPIP5K1	9677	broad.mit.edu	37	15	43851062	43851062	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:43851062G>A	uc001zrw.3	-	28	3520	c.3316C>T	c.(3316-3318)Cgt>Tgt	p.R1106C	PPIP5K1_uc021sjw.1_Missense_Mutation_p.R1081C|PPIP5K1_uc001zrx.2_Missense_Mutation_p.R1039C|PPIP5K1_uc001zry.4_Missense_Mutation_p.R1081C|PPIP5K1_uc021sjx.1_Missense_Mutation_p.R169C	NM_001130858	NP_001124330	Q6PFW1	VIP1_HUMAN	Homo sapiens diphosphoinositol pentakisphosphate kinase 1 (PPIP5K1), transcript variant 5, mRNA.	1106					inositol metabolic process	cytosol	ATP binding|acid phosphatase activity|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity			large_intestine(1)	1						CTCACTTGACGTAGGGAAAGG	0.473000														43			41		0	0	1	0	0
ZBTB40	9923	broad.mit.edu	37	1	22848034	22848034	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:22848034G>A	uc001bft.2	+	15	3605	c.3094G>A	c.(3094-3096)Gta>Ata	p.V1032I	ZBTB40_uc001bfu.2_Missense_Mutation_p.V1032I|ZBTB40_uc009vqi.1_Missense_Mutation_p.V920I	NM_001083621	NP_055685	Q9NUA8	ZBT40_HUMAN	Homo sapiens zinc finger and BTB domain containing 40 (ZBTB40), transcript variant 1, mRNA.	1032					bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		CCACCCTGACGTATTTGCTGC	0.488000														45			28		0	0	1	0	0
PAX4	5078	broad.mit.edu	37	7	127252041	127252041	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:127252041C>T	uc010lld.1	-	6	911	c.705G>A	c.(703-705)ggG>ggA	p.G235G	PAX4_uc003vmf.2_Silent_p.G233G|PAX4_uc003vmg.1_Silent_p.G235G|PAX4_uc003vmh.3_Silent_p.G233G	NM_006193	NP_006184	O43316	PAX4_HUMAN	Homo sapiens paired box 4 (PAX4), mRNA.	243					cell differentiation|endocrine pancreas development|organ morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.Q234K(1)		cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						GTACAGTCAGCCCCTGGGAAG	0.557000														41			14		0	0	1	0	0
FBXO40	51725	broad.mit.edu	37	3	121341567	121341567	+	Missense_Mutation	SNP	T	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:121341567T>A	uc003eeg.2	+	2	1501	c.1291T>A	c.(1291-1293)Tac>Aac	p.Y431N		NM_016298	NP_057382	Q9UH90	FBX40_HUMAN	Homo sapiens F-box protein 40 (FBXO40), mRNA.	431					muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		CACACAAACATACAACTTTGA	0.527000														64			51		0	0	1	0	0
TBC1D19	55296	broad.mit.edu	37	4	26640404	26640404	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:26640404A>G	uc003gsf.4	+	5	651	c.381A>G	c.(379-381)ggA>ggG	p.G127G	TBC1D19_uc010iew.3_Silent_p.G127G|TBC1D19_uc011bxu.2_Silent_p.G62G	NM_018317	NP_060787	Q8N5T2	TBC19_HUMAN	Homo sapiens TBC1 domain family, member 19 (TBC1D19), mRNA.	127						intracellular	Rab GTPase activator activity			breast(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	17		Breast(46;0.0503)				GGCCAGTTGGAGAACAGAAAG	0.303000														43			24		0	0	1	0	0
CLIP1	6249	broad.mit.edu	37	12	122862245	122862245	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:122862245G>A	uc001ucg.2	-	2	503	c.348C>T	c.(346-348)ggC>ggT	p.G116G	CLIP1_uc001uch.1_Silent_p.G116G|CLIP1_uc001uci.1_Silent_p.G116G|CLIP1_uc010tae.2_Silent_p.G116G	NM_001247997	NP_001234926	P30622	CLIP1_HUMAN	Homo sapiens CAP-GLY domain containing linker protein 1 (CLIP1), transcript variant 3, mRNA.	116	CAP-Gly 1.				mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		GGGTAAATATGCCCTTTAAAG	0.507000														61			32		0	0	1	0	0
KCNT1	57582	broad.mit.edu	37	9	138671301	138671301	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:138671301T>C	uc011mdq.2	+	23	2900	c.2826T>C	c.(2824-2826)ctT>ctC	p.L942L	KCNT1_uc011mdr.2_Silent_p.L769L|KCNT1_uc010nbf.3_Silent_p.L897L|KCNT1_uc004cgo.1_Silent_p.L691L	NM_020822	NP_065873	B7ZVY4	B7ZVY4_HUMAN	Homo sapiens potassium channel, subfamily T, member 1 (KCNT1), mRNA.	942						membrane	binding|calcium-activated potassium channel activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		CTCTGGCTCTTTCCAAACTAG	0.607000														49			23		0	0	1	0	0
ALKBH5	54890	broad.mit.edu	37	17	18110257	18110257	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:18110257G>A	uc010cpw.3	+	2	1671	c.980G>A	c.(979-981)cGc>cAc	p.R327H		NM_017758	NP_060228	Q6P6C2	ALKB5_HUMAN	Homo sapiens alkB, alkylation repair homolog 5 (E. coli) (ALKBH5), mRNA.	327						integral to membrane	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|ovary(1)|skin(1)	10	all_neural(463;0.228)					CGGTCCCACCGCAAGGCAGAC	0.587000														124			64		0	0	1	0	0
DRD3	1814	broad.mit.edu	37	3	113866319	113866319	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:113866319C>T	uc003ebd.2	-	4	892	c.469G>A	c.(469-471)Gtc>Atc	p.V157I	DRD3_uc010hqn.1_Missense_Mutation_p.V157I|DRD3_uc003ebb.1_Missense_Mutation_p.V157I|DRD3_uc003ebc.1_Missense_Mutation_p.V157I	NM_000796	NP_000787	P35462	DRD3_HUMAN	Homo sapiens dopamine receptor D3 (DRD3), transcript variant a, mRNA.	157					G-protein coupled receptor internalization|activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning	integral to plasma membrane	dopamine D3 receptor activity|drug binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36					Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246)	AGTACCCAGACGGCCGTGATC	0.542000														68			8		0	0	1	0	0
CACNA1D	776	broad.mit.edu	37	3	53845162	53845162	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:53845162G>A	uc003dgv.4	+	47	6378	c.6215G>A	c.(6214-6216)gGa>gAa	p.G2072E	CACNA1D_uc003dgu.4_Missense_Mutation_p.G2092E|CACNA1D_uc003dgy.4_Missense_Mutation_p.G2048E|CACNA1D_uc003dgw.4_Missense_Mutation_p.G1739E|CACNA1D_uc011bes.2_Non-coding_Transcript	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1D subunit (CACNA1D), transcript variant 2, mRNA.	2072					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	GAAGGCTTGGGACGCTATGCA	0.517000														41			21		0	0	1	0	0
OR11H12	440153	broad.mit.edu	37	14	19377766	19377766	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:19377766G>A	uc010tkp.2	+	0	173	c.173G>A	c.(172-174)gGa>gAa	p.G58E		NM_001013354	NP_001013372	B2RN74	O11HC_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily H, member 12 (OR11H12), mRNA.	58					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ACAGGGAATGGAGCCATTGCT	0.408000														78			64		0	0	1	0	0
VWA7	80737	broad.mit.edu	37	6	31741095	31741095	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31741095C>T	uc011dog.2	-	5	1079	c.841G>A	c.(841-843)Gca>Aca	p.A281T	VWA7_uc003nxd.2_5'UTR|VWA7_uc011doh.1_Non-coding_Transcript	NM_025258	NP_079534	Q9Y334	G7C_HUMAN	Homo sapiens von Willebrand factor A domain containing 7 (VWA7), mRNA.	281						extracellular region											GCCAGTTTTGCAGCCTGGAGG	0.617000														7			6		0	0	1	0	0
GNB5	10681	broad.mit.edu	37	15	52446271	52446271	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:52446271G>A	uc002abt.1	-	3	306	c.241C>T	c.(241-243)Cac>Tac	p.H81Y	GNB5_uc002abr.1_Missense_Mutation_p.H39Y|GNB5_uc002abs.1_Missense_Mutation_p.H39Y|GNB5_uc002abu.3_Missense_Mutation_p.H39Y	NM_016194	NP_057278	O14775	GBB5_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), beta 5 (GNB5), transcript variant 2, mRNA.	81						heterotrimeric G-protein complex	GTPase activity|signal transducer activity			large_intestine(1)|lung(1)	2				all cancers(107;0.0163)		GCCACCTGGTGCACTGGAATG	0.592000														6			12		0	0	1	0	0
POLR3A	11128	broad.mit.edu	37	10	79753080	79753080	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:79753080G>T	uc001jzn.3	-	19	2795	c.2662C>A	c.(2662-2664)Ctg>Atg	p.L888M		NM_007055	NP_008986	O14802	RPC1_HUMAN	Homo sapiens polymerase (RNA) III (DNA directed) polypeptide A, 155kDa (POLR3A), mRNA.	888					innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			CGGACTGTCAGATCATACTGG	0.448000														63			7		1.6384e-10	1.98099e-10	1	1	0
ACOX2	8309	broad.mit.edu	37	3	58510329	58510329	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:58510329G>T	uc003dkl.3	-	10	1525	c.1350C>A	c.(1348-1350)ttC>ttA	p.F450L		NM_003500	NP_003491	Q99424	ACOX2_HUMAN	Homo sapiens acyl-CoA oxidase 2, branched chain (ACOX2), mRNA.	450					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)		TCTTCACCAGGAACCTGGGGG	0.592000														19			16		1.5739e-10	1.90488e-10	1	1	0
RCAN3	11123	broad.mit.edu	37	1	24840983	24840983	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:24840983G>A	uc021ojc.1	+	1	293	c.121G>A	c.(121-123)Gat>Aat	p.D41N	RCAN3_uc021ojd.1_Intron|RCAN3_uc021oje.1_Missense_Mutation_p.D41N|RCAN3_uc001bjj.3_Missense_Mutation_p.D41N|RCAN3_uc009vre.3_Missense_Mutation_p.D41N|RCAN3_uc021ojf.1_Intron|RCAN3_uc021ojg.1_Missense_Mutation_p.D41N|RCAN3_uc009vrg.3_Missense_Mutation_p.D41N|RCAN3_uc009vrd.3_Missense_Mutation_p.D41N|RCAN3_uc009vrf.3_Missense_Mutation_p.D41N	NM_001251979	NP_001238908	Q9UKA8	RCAN3_HUMAN	Homo sapiens RCAN family member 3 (RCAN3), transcript variant 4, mRNA.	41					anatomical structure morphogenesis|calcium-mediated signaling		RNA binding|nucleotide binding|troponin I binding			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)	7		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00473)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0427)|OV - Ovarian serous cystadenocarcinoma(117;1.13e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;0.000923)|BRCA - Breast invasive adenocarcinoma(304;0.0018)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.00493)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.14)		TGAGATGATGGATTTAAGTGA	0.438000														60			4		0	0	1	0	0
PHIP	55023	broad.mit.edu	37	6	79657341	79657341	+	Splice_Site	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:79657341C>A	uc011dyp.2	-	36	4429	c.4203_splice	c.e36+1	p.R1401_splice	PHIP_uc003piq.3_Splice_Site_p.R426_splice|PHIP_uc003pir.3_Splice_Site_p.R1402_splice|PHIP_uc003pio.4_Splice_Site_p.R288_splice	NM_017934	NP_060404	Q8WWQ0	PHIP_HUMAN	Homo sapiens pleckstrin homology domain interacting protein (PHIP), mRNA.	1402	Bromo 2.				insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		ATTATATACCCTTGATCTTTT	0.303000														29			15		1.45105e-14	1.81895e-14	1	1	0
GON4L	54856	broad.mit.edu	37	1	155649258	155649258	+	Nonsense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155649258C>A	uc010pgi.2	-	2	673	c.481G>T	c.(481-483)Gaa>Taa	p.E161*	GON4L_uc021paz.1_Nonsense_Mutation_p.E23*|GON4L_uc010pgg.2_5'Flank|GON4L_uc010pgh.2_Nonsense_Mutation_p.E12*|GON4L_uc009wqt.3_Nonsense_Mutation_p.E12*|GON4L_uc001flh.3_Nonsense_Mutation_p.E161*|GON4L_uc001fll.3_Nonsense_Mutation_p.E23*|GON4L_uc001flk.3_Nonsense_Mutation_p.E12*|GON4L_uc001flm.3_Nonsense_Mutation_p.E12*|GON4L_uc009wqu.3_5'UTR|GON4L_uc009wqv.3_5'UTR|GON4L_uc009wqw.3_Nonsense_Mutation_p.E12*|GON4L_uc001flj.3_Nonsense_Mutation_p.E23*|GON4L_uc001fli.3_Nonsense_Mutation_p.E23*|GON4L_uc001flo.3_5'UTR|GON4L_uc001fln.3_Nonsense_Mutation_p.E89*|GON4L_uc010pgj.2_Nonsense_Mutation_p.E89*|GON4L_uc001flp.3_Nonsense_Mutation_p.E23*|GON4L_uc009wqx.3_Nonsense_Mutation_p.E161*|GON4L_uc010pgk.2_Nonsense_Mutation_p.E161*	NM_001198903	NP_001185832	Q3T8J9	GON4L_HUMAN	Homo sapiens YY1 associated protein 1 (YY1AP1), transcript variant 10, mRNA.	612					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					TCCTCCTCTTCTGGGCCATCA	0.493000														63			24		4.7796e-09	5.65454e-09	1	1	0
ATAD2	29028	broad.mit.edu	37	8	124340563	124340563	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:124340563A>G	uc003yqh.4	-	24	3843	c.3735T>C	c.(3733-3735)acT>acC	p.T1245T	ATAD2_uc011lii.2_Silent_p.T1036T|ATAD2_uc003yqi.4_Non-coding_Transcript	NM_014109	NP_054828	Q6PL18	ATAD2_HUMAN	Homo sapiens ATPase family, AAA domain containing 2 (ATAD2), mRNA.	1245					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			CTATATTACAAGTATTTGAAT	0.378000														41			23		0	0	1	0	0
ZNF529	57711	broad.mit.edu	37	19	37038801	37038801	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:37038801A>C	uc002oeh.4	-	4	861	c.659T>G	c.(658-660)aTt>aGt	p.I220S	ZNF529_uc010xth.2_Missense_Mutation_p.I220S|ZNF529_uc010xti.2_Missense_Mutation_p.I202S|ZNF529_uc002oeg.4_Missense_Mutation_p.I115S	NM_020951	NP_001139122	Q6P280	ZN529_HUMAN	Homo sapiens zinc finger protein 529 (ZNF529), transcript variant 2, mRNA.	187					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1	Esophageal squamous(110;0.198)					ACCAGTATGAATATTCAGTTG	0.294000														24			10		0	0	1	0	0
AKAP9	10142	broad.mit.edu	37	7	91715584	91715584	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:91715584C>T	uc003ulg.3	+	36	9292	c.9067C>T	c.(9067-9069)Cga>Tga	p.R3023*	AKAP9_uc003ulf.3_Nonsense_Mutation_p.R3015*|AKAP9_uc003uli.3_Nonsense_Mutation_p.R2646*|AKAP9_uc003ulj.3_Nonsense_Mutation_p.R793*|AKAP9_uc003ulk.3_Nonsense_Mutation_p.R298*	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	Homo sapiens A kinase (PRKA) anchor protein (yotiao) 9 (AKAP9), transcript variant 2, mRNA.	3027					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	Golgi apparatus|centrosome|cytosol	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CTCAGACTGGCGAGGTGAACT	0.393000			T	BRAF	papillary thyroid									99			137		0	0	1	0	0
PAPD7	11044	broad.mit.edu	37	5	6746508	6746508	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:6746508C>T	uc003jdx.1	+	6	806	c.677C>T	c.(676-678)tCg>tTg	p.S226L	PAPD7_uc011cmn.2_Missense_Mutation_p.S226L|PAPD7_uc010itl.1_Missense_Mutation_p.S46L	NM_006999	NP_001165277	Q5XG87	PAPD7_HUMAN	Homo sapiens PAP associated domain containing 7 (PAPD7), transcript variant 1, mRNA.	226	PAP-associated.				DNA replication|cell division|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion	nucleus	DNA binding|DNA-directed DNA polymerase activity|SMC protein binding|metal ion binding			cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						TACAGACCGTCGATGCTGTGC	0.542000														60			30		0	0	1	0	0
PREX1	57580	broad.mit.edu	37	20	47269912	47269912	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:47269912C>T	uc002xtw.1	-	19	2356	c.2333G>A	c.(2332-2334)cGc>cAc	p.R778H	PREX1_uc002xtv.1_Missense_Mutation_p.R75H	NM_020820	NP_065871	Q8TCU6	PREX1_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1 (PREX1), mRNA.	778					actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|enzyme binding|phospholipid binding	p.R777R(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			GGCCTCTTCGCGCCGACTCCG	0.577000														80			52		0	0	1	0	0
UBA7	7318	broad.mit.edu	37	3	49849918	49849918	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49849918C>A	uc003cxr.3	-	5	788	c.617G>T	c.(616-618)gGa>gTa	p.G206V		NM_003335	NP_003326	P41226	UBA7_HUMAN	Homo sapiens ubiquitin-like modifier activating enzyme 7 (UBA7), mRNA.	206	2 approximate repeats.				ISG15-protein conjugation|negative regulation of type I interferon production	cytosol	ATP binding|ISG15 activating enzyme activity|ligase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		CACCAAGTCTCCATCACGGAA	0.567000														52			4		0.000602214	0.000641151	1	1	0
PRKAA2	5563	broad.mit.edu	37	1	57170134	57170134	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:57170134G>T	uc001cyk.4	+	6	1350	c.1279G>T	c.(1279-1281)Gat>Tat	p.D427Y		NM_006252	NP_006243	P54646	AAPK2_HUMAN	Homo sapiens protein kinase, AMP-activated, alpha 2 catalytic subunit (PRKAA2), mRNA.	427					carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding			breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23						GAAGCAGCTGGATTTTGAATG	0.373000														105			10		2.17888e-05	2.40634e-05	1	1	0
TCOF1	6949	broad.mit.edu	37	5	149749101	149749101	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:149749101C>T	uc003lry.3	+	5	683	c.575C>T	c.(574-576)tCa>tTa	p.S192L	TCOF1_uc003lrw.3_Missense_Mutation_p.S192L|TCOF1_uc003lrz.3_Missense_Mutation_p.S192L|TCOF1_uc011dch.2_Missense_Mutation_p.S192L|TCOF1_uc003lrx.3_Missense_Mutation_p.S192L|TCOF1_uc003lsa.3_Missense_Mutation_p.S192L	NM_001135243	NP_001128715	Q13428	TCOF_HUMAN	Homo sapiens Treacher Collins-Franceschetti syndrome 1 (TCOF1), transcript variant 4, mRNA.	192					skeletal system development	nucleolus	protein binding|transporter activity			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGGATGGTGTCAGCGGGCCAG	0.632000														30			10		0	0	1	0	0
UCK1	83549	broad.mit.edu	37	9	134404364	134404364	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:134404364G>A	uc004cay.3	-	4	671	c.570C>T	c.(568-570)ttC>ttT	p.F190F	UCK1_uc010mzk.3_Silent_p.F181F|UCK1_uc004cba.3_Intron|UCK1_uc004caz.3_Non-coding_Transcript	NM_031432	NP_113620	Q9HA47	UCK1_HUMAN	Homo sapiens uridine-cytidine kinase 1 (UCK1), transcript variant 1, mRNA.	190					pyrimidine base metabolic process|pyrimidine nucleoside salvage	cytosol	ATP binding|phosphotransferase activity, alcohol group as acceptor|uridine kinase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	6				OV - Ovarian serous cystadenocarcinoma(145;2.34e-05)|Epithelial(140;0.000219)		CCGGCTTCACGAAGGTGGTGT	0.612000														13			8		0	0	1	0	0
TPST1	8460	broad.mit.edu	37	7	65817504	65817504	+	Nonsense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:65817504G>T	uc003tuw.3	+	3	1409	c.1057G>T	c.(1057-1059)Gaa>Taa	p.E353*	TPST1_uc010kzy.2_Non-coding_Transcript	NM_003596	NP_003587	O60507	TPST1_HUMAN	Homo sapiens tyrosylprotein sulfotransferase 1 (TPST1), mRNA.	353					inflammatory response|peptidyl-tyrosine sulfation	Golgi membrane|integral to membrane|membrane fraction	protein-tyrosine sulfotransferase activity			NS(1)|biliary_tract(1)|breast(1)|kidney(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						CTATAAGGGAGAATTCCAACT	0.453000														150			43		4.18559e-23	5.44985e-23	1	1	0
SLC22A7	10864	broad.mit.edu	37	6	43269964	43269964	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:43269964G>A	uc021yzt.1	+	7	1187	c.1088G>A	c.(1087-1089)gGc>gAc	p.G363D	SLC22A7_uc010jyl.1_Missense_Mutation_p.G364D|SLC22A7_uc003ous.3_Missense_Mutation_p.G361D|SLC22A7_uc003out.3_Missense_Mutation_p.G361D	NM_153320	NP_696961	Q9Y694	S22A7_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 7 (SLC22A7), transcript variant 2, mRNA.	363						basolateral plasma membrane|integral to plasma membrane|membrane fraction	anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)			TCCTATTACGGCCTGAGTCTG	0.567000														41			28		0	0	1	0	0
MLYCD	23417	broad.mit.edu	37	16	83948758	83948758	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:83948758C>T	uc002fgz.3	+	4	1166	c.1146C>T	c.(1144-1146)agC>agT	p.S382S		NM_012213	NP_036345	O95822	DCMC_HUMAN	Homo sapiens malonyl-CoA decarboxylase (MLYCD), nuclear gene encoding mitochondrial protein, mRNA.	382					acyl-CoA metabolic process|fatty acid biosynthetic process	mitochondrion|peroxisome	malonyl-CoA decarboxylase activity|methylmalonyl-CoA decarboxylase activity			NS(1)|biliary_tract(1)|breast(1)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						TCAGCAGCAGCGAGTGGGTGC	0.582000														75			54		0	0	1	0	0
RWDD2B	10069	broad.mit.edu	37	21	30378931	30378931	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:30378931C>T	uc002yms.3	-	4	854	c.767G>A	c.(766-768)cGa>cAa	p.R256Q		NM_016940	NP_058636	P57060	RWD2B_HUMAN	Homo sapiens RWD domain containing 2B (RWDD2B), mRNA.	256										endometrium(1)|kidney(1)|large_intestine(8)|lung(2)	12						AATGTCTTCTCGATGGCGAAT	0.318000														16			5		0	0	1	0	0
DOT1L	84444	broad.mit.edu	37	19	2228271	2228271	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:2228271G>A	uc002lvc.1	+	13	3791	c.3024G>A	c.(3022-3024)ggG>ggA	p.G1008G	DOT1L_uc002lvb.4_Intron	NM_032482	NP_115871	Q8TEK3	DOT1L_HUMAN	Homo sapiens DOT1-like, histone H3 methyltransferase (S. cerevisiae) (DOT1L), mRNA.	1715						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCGCCACGGGGCCGTCCGCGG	0.716000														33			21		0	0	1	0	0
ADC	113451	broad.mit.edu	37	1	33549655	33549655	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:33549655T>C	uc009vug.3	+	1	278	c.206T>C	c.(205-207)gTc>gCc	p.V69A	ADC_uc001bwr.3_Missense_Mutation_p.V69A|ADC_uc001bws.3_Missense_Mutation_p.V69A|ADC_uc009vue.3_Missense_Mutation_p.V69A|ADC_uc001bwt.1_5'UTR|ADC_uc001bwu.3_5'UTR|ADC_uc001bwv.3_Intron|ADC_uc001bwx.1_Missense_Mutation_p.V46A|ADC_uc009vuf.1_Missense_Mutation_p.V69A|ADC_uc001bwy.1_5'UTR|ADC_uc001bwz.1_Missense_Mutation_p.V69A	NM_052998	NP_443724	Q96A70	ADC_HUMAN	Homo sapiens arginine decarboxylase (ADC), mRNA.	69					polyamine biosynthetic process|spermatogenesis	cytosol	arginine decarboxylase activity			NS(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)			L-Arginine(DB00125)|Pyridoxal Phosphate(DB00114)	TTTTATGCTGTCAAGTGCAAC	0.592000														59			6		0	0	1	0	0
INTS7	25896	broad.mit.edu	37	1	212141864	212141864	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:212141864G>T	uc001hiw.2	-	13	2224	c.2001C>A	c.(1999-2001)atC>atA	p.I667I	INTS7_uc001hix.2_Silent_p.I543I|INTS7_uc009xdb.2_Silent_p.I667I|INTS7_uc001hiy.2_Silent_p.I667I|INTS7_uc010pta.2_Silent_p.I618I	NM_015434	NP_056249	Q9NVH2	INT7_HUMAN	Homo sapiens integrator complex subunit 7 (INTS7), transcript variant 1, mRNA.	667					snRNA processing	integrator complex	protein binding			NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)		CCTGATTGGAGATGCGACCAC	0.383000														65			6		8.12818e-05	8.84769e-05	1	1	0
SPOP	8405	broad.mit.edu	37	17	47696646	47696646	+	Missense_Mutation	SNP	T	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:47696646T>A	uc002ipg.3	-	3	599	c.302A>T	c.(301-303)aAa>aTa	p.K101I	SPOP_uc010dbk.3_Missense_Mutation_p.K101I|SPOP_uc002ipb.3_Missense_Mutation_p.K101I|SPOP_uc002ipc.3_Missense_Mutation_p.K101I|SPOP_uc002ipd.3_Missense_Mutation_p.K101I|SPOP_uc002ipe.3_Missense_Mutation_p.K101I|SPOP_uc002ipf.3_Missense_Mutation_p.K101I	NM_001007228	NP_003554	O43791	SPOP_HUMAN	Homo sapiens speckle-type POZ protein (SPOP), transcript variant 4, mRNA.	101	MATH.|Required for nuclear localization.				mRNA processing	nucleus	protein binding			endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						GAATTTGAATTTTGCCCGAAC	0.408000										Prostate(2;0.17)				92			11		0	0	1	0	0
URB2	9816	broad.mit.edu	37	1	229794945	229794945	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:229794945G>A	uc001hts.1	+	9	4612	c.4476G>A	c.(4474-4476)tcG>tcA	p.S1492S	URB2_uc009xfd.1_Silent_p.S1492S	NM_014777	NP_055592	Q14146	URB2_HUMAN	Homo sapiens URB2 ribosome biogenesis 2 homolog (S. cerevisiae) (URB2), mRNA.	1492						nucleolus				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						TGCGGGCCTCGCTGCAGCCGG	0.502000														142			79		0	0	1	0	0
ZUFSP	221302	broad.mit.edu	37	6	116988279	116988279	+	Missense_Mutation	SNP	T	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:116988279T>A	uc003pxf.2	-	1	337	c.77A>T	c.(76-78)gAa>gTa	p.E26V	ZUFSP_uc010kef.2_Intron	NM_145062	NP_659499	Q96AP4	ZUFSP_HUMAN	Homo sapiens zinc finger with UFM1-specific peptidase domain (ZUFSP), mRNA.	26						intracellular	zinc ion binding			NS(1)|endometrium(2)|kidney(6)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21				GBM - Glioblastoma multiforme(226;0.0258)|all cancers(137;0.0368)|OV - Ovarian serous cystadenocarcinoma(136;0.0464)|Epithelial(106;0.186)		AATTTCACTTTCCATGTGAAC	0.353000														76			7		0	0	1	0	0
PDZD2	23037	broad.mit.edu	37	5	32087250	32087250	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:32087250C>A	uc003jhl.3	+	19	4084	c.3696C>A	c.(3694-3696)tcC>tcA	p.S1232S	PDZD2_uc003jhm.3_Silent_p.S1232S	NM_178140	NP_835260	O15018	PDZD2_HUMAN	Homo sapiens PDZ domain containing 2 (PDZD2), mRNA.	1232					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						TGGACAGCTCCTCAGACCTCA	0.527000														89			8		0.0477658	0.0485825	1	1	0
CXXC11	285093	broad.mit.edu	37	2	242814298	242814298	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:242814298G>T	uc010fzu.1	+	1	614	c.591G>T	c.(589-591)aaG>aaT	p.K197N		NM_173821	NP_776182	Q14D33	CB085_HUMAN	Homo sapiens CXXC finger protein 11 (CXXC11), mRNA.	197						integral to membrane											ACCTTGGCAAGGGTGGCGTTG	0.677000														18			3		0.004672	0.00486265	1	1	0
SCN4A	6329	broad.mit.edu	37	17	62020442	62020442	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:62020442G>A	uc002jds.1	-	22	4109	c.4032C>T	c.(4030-4032)ggC>ggT	p.G1344G		NM_000334	NP_000325	P35499	SCN4A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IV, alpha subunit (SCN4A), mRNA.	1344					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	CATACACCATGCCCTGGATCT	0.567000														74			52		0	0	1	0	0
EFHA2	286097	broad.mit.edu	37	8	16963025	16963025	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:16963025C>T	uc003wxd.2	+	10	1231	c.1189C>T	c.(1189-1191)Cga>Tga	p.R397*		NM_181723	NP_859074	Q86XE3	EFHA2_HUMAN	Homo sapiens EF-hand domain family, member A2 (EFHA2), mRNA.	397						integral to membrane	calcium ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(1)|skin(4)	23				Colorectal(111;0.0686)|COAD - Colon adenocarcinoma(73;0.239)		TATTCTTTTACGATATACAAA	0.308000														19			15		0	0	1	0	0
SKP2	6502	broad.mit.edu	37	5	36168426	36168426	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:36168426T>C	uc003jkc.2	+	4	768	c.548T>C	c.(547-549)gTa>gCa	p.V183A	SKP2_uc003jkd.3_Missense_Mutation_p.V183A|SKP2_uc011cou.2_Intron	NM_005983	NP_005974	Q13309	SKP2_HUMAN	Homo sapiens S-phase kinase-associated protein 2 (p45) (SKP2), transcript variant 1, mRNA.	183					G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation	SCF ubiquitin ligase complex|nucleoplasm	protein binding			breast(1)|central_nervous_system(2)|ovary(1)	4	all_lung(31;5.63e-05)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CCTTTTCGTGTACAGCACATG	0.498000														269			20		0	0	1	0	0
SMO	6608	broad.mit.edu	37	7	128846053	128846053	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:128846053G>A	uc003vor.3	+	4	1263	c.983G>A	c.(982-984)gGt>gAt	p.G328D	SMO_uc003vos.3_Missense_Mutation_p.G3D	NM_005631	NP_005622	Q99835	SMO_HUMAN	Homo sapiens smoothened, frizzled family receptor (SMO), mRNA.	328					adenohypophysis development|axon extension involved in axon guidance|canonical Wnt receptor signaling pathway|cardioblast differentiation|central nervous system neuron differentiation|cerebellar cortex morphogenesis|ciliary receptor clustering involved in smoothened signaling pathway|determination of left/right symmetry|dorsal/ventral neural tube patterning|embryonic camera-type eye development|embryonic digestive tract morphogenesis|embryonic neurocranium morphogenesis|embryonic viscerocranium morphogenesis|exocrine pancreas development|facial nerve development|floor plate formation|gonad development|heart morphogenesis|muscle cell fate commitment|negative regulation of apoptosis|neural crest cell migration|neuron fate commitment|neuron projection regeneration|odontogenesis of dentine-containing tooth|osteoblast differentiation|otolith morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of neuroblast proliferation|positive regulation of smoothened signaling pathway|semicircular canal morphogenesis|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation|smoothened signaling pathway involved in ventral spinal cord patterning|spermatogenesis|vasculogenesis	cilium|cytoplasm|integral to membrane|neuronal cell body|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			biliary_tract(1)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(14)|liver(1)|lung(11)|pancreas(2)|prostate(1)|skin(20)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						CTGATGGCTGGTGTGGTTTGG	0.557000			Mis		skin basal cell									92			133		0	0	1	0	0
MND1	84057	broad.mit.edu	37	4	154315439	154315439	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:154315439C>T	uc003ink.2	+	4	391	c.302C>T	c.(301-303)gCa>gTa	p.A101V	MND1_uc021xtj.1_Non-coding_Transcript|MND1_uc021xtk.1_Missense_Mutation_p.A101V	NM_032117	NP_115493	Q9BWT6	MND1_HUMAN	Homo sapiens meiotic nuclear divisions 1 homolog (S. cerevisiae) (MND1), transcript variant 1, mRNA.	101					DNA recombination|meiosis	nucleus	DNA binding			large_intestine(2)|lung(1)	3	all_hematologic(180;0.093)					CAAAAGCATGCAAGCCTACAG	0.333000														30			4		0	0	1	0	0
COL1A2	1278	broad.mit.edu	37	7	94054475	94054475	+	Missense_Mutation	SNP	G	T	T	rs121912900		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:94054475G>T	uc003ung.1	+	41	3191	c.2720G>T	c.(2719-2721)gGt>gTt	p.G907V	COL1A2_uc011kib.1_Intron	NM_000089	NP_000080	P08123	CO1A2_HUMAN	Homo sapiens collagen, type I, alpha 2 (COL1A2), mRNA.	907					Rho protein signal transduction|axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|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)	GGGGCCCGTGGTCCTCCTGGT	0.522000										HNSCC(75;0.22)				55			16		7.07596e-05	7.73367e-05	1	1	0
CBLC	23624	broad.mit.edu	37	19	45296783	45296783	+	Missense_Mutation	SNP	A	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:45296783A>T	uc002ozs.3	+	7	1253	c.1190A>T	c.(1189-1191)gAg>gTg	p.E397V	CBLC_uc010ejt.3_Missense_Mutation_p.E351V	NM_012116	NP_036248	Q9ULV8	CBLC_HUMAN	Homo sapiens Cas-Br-M (murine) ecotropic retroviral transforming sequence c (CBLC), transcript variant 1, mRNA.	397					cell surface receptor linked signaling pathway|negative regulation of MAP kinase activity|negative regulation of epidermal growth factor receptor activity|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	SH3 domain binding|calcium ion binding|epidermal growth factor receptor binding|phosphotyrosine binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|kidney(1)|lung(6)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Lung NSC(12;0.00136)|all_lung(12;0.00371)	Ovarian(192;0.231)				AAGGGCTGGGAGGCCGTGAGT	0.637000			M		AML									11			7		0	0	1	0	0
TRIM67	440730	broad.mit.edu	37	1	231344960	231344960	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:231344960G>A	uc009xfn.1	+	7	2129	c.2087G>A	c.(2086-2088)cGc>cAc	p.R696H		NM_001004342	NP_001004342	Q6ZTA4	TRI67_HUMAN	Homo sapiens tripartite motif containing 67 (TRIM67), mRNA.	696	B30.2/SPRY.					cytoplasm|cytoskeleton	zinc ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				GACAACAACCGCAGCTGGTTC	0.607000														20			21		0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155160378	155160378	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:155160378T>G	uc003inw.2	-	23	6071	c.6071A>C	c.(6070-6072)aAc>aCc	p.N2024T		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.	2024	Cadherin 18.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GTAAGAAATGTTCTCATTGCT	0.383000														42			9		0	0	1	0	0
ZNF341	84905	broad.mit.edu	37	20	32379026	32379026	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:32379026C>T	uc002wzy.3	+	14	2288	c.2268C>T	c.(2266-2268)tgC>tgT	p.C756C	ZNF341_uc002wzx.3_Silent_p.C749C|ZNF341_uc010geq.3_Silent_p.C666C|ZNF341_uc010ger.3_Non-coding_Transcript|ZNF341_uc002wzz.3_Silent_p.C183C	NM_032819	NP_116208	Q9BYN7	ZN341_HUMAN	Homo sapiens zinc finger protein 341 (ZNF341), mRNA.	756					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						CCCGCAGTTGCGGCAGTGGTG	0.682000														16			9		0	0	1	0	0
TOP2A	7153	broad.mit.edu	37	17	38563914	38563914	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:38563914C>T	uc002huq.3	-	12	1672	c.1513G>A	c.(1513-1515)Gct>Act	p.A505T	RARA_uc021txb.1_Intron	NM_001067	NP_001058	P11388	TOP2A_HUMAN	Homo sapiens topoisomerase (DNA) II alpha 170kDa (TOP2A), mRNA.	505					DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|apoptotic chromosome condensation|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation	DNA topoisomerase complex (ATP-hydrolyzing)|cytoplasm|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|chromatin binding|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	TTAATCTCAGCATTTTCCATG	0.303000														12			7		0	0	1	0	0
SYTL3	94120	broad.mit.edu	37	6	159084380	159084380	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:159084380C>T	uc003qrp.3	+	4	479	c.80C>T	c.(79-81)gCg>gTg	p.A27V	SYTL3_uc003qrr.3_Missense_Mutation_p.A27V|SYTL3_uc003qro.3_Missense_Mutation_p.A27V|SYTL3_uc003qrs.3_Missense_Mutation_p.A27V|SYTL3_uc011efq.2_5'UTR	NM_001242384	NP_001229313	Q4VX76	SYTL3_HUMAN	Homo sapiens synaptotagmin-like 3 (SYTL3), transcript variant 1, mRNA.	27	RabBD.				intracellular protein transport	endomembrane system|membrane	Rab GTPase binding			endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|urinary_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.54e-17)|BRCA - Breast invasive adenocarcinoma(81;8.24e-06)		CGAGACCAGGCGGTTCAAAAC	0.557000														23			16		0	0	1	0	0
STEAP1B	256227	broad.mit.edu	37	7	22532333	22532333	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:22532333C>T	uc010kum.2	-	3	813	c.613G>A	c.(613-615)Gaa>Aaa	p.E205K	STEAP1B_uc003svh.3_Missense_Mutation_p.E186K	NM_001164460	NP_001157932	Q6NZ63	STEAL_HUMAN	Homo sapiens STEAP family member 1B (STEAP1B), transcript variant 1, mRNA.	186						integral to membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity			endometrium(1)|kidney(1)|lung(2)	4						CAGGCATCTTCTTTATTTTGT	0.403000														77			27		0	0	1	0	0
PLXNA3	55558	broad.mit.edu	37	X	153692523	153692523	+	Silent	SNP	G	T	T	rs146025967	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153692523G>T	uc004flm.3	+	7	1868	c.1695G>T	c.(1693-1695)gtG>gtT	p.V565V		NM_017514	NP_059984	P51805	PLXA3_HUMAN	Homo sapiens plexin A3 (PLXNA3), mRNA.	565					axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGCACAACGTGCCAGACCTCA	0.701000														9			5		0.014758	0.0151755	1	1	0
FOXR2	139628	broad.mit.edu	37	X	55650714	55650714	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:55650714G>A	uc004duo.3	+	0	882	c.570G>A	c.(568-570)tgG>tgA	p.W190*		NM_198451	NP_940853	Q6PJQ5	FOXR2_HUMAN	Homo sapiens forkhead box R2 (FOXR2), mRNA.	190					embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA 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			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	19						AGAAGTCCTGGCAAAGGCCCC	0.502000														30			8		0	0	1	0	0
ATP7B	540	broad.mit.edu	37	13	52585455	52585455	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:52585455G>A	uc001vfw.2	-	0	176	c.19C>T	c.(19-21)Cag>Tag	p.Q7*	ATP7B_uc001vfy.2_Nonsense_Mutation_p.Q7*|ATP7B_uc010adv.2_Nonsense_Mutation_p.Q7*|ATP7B_uc001vfx.2_Nonsense_Mutation_p.Q7*|ATP7B_uc010tgt.1_Nonsense_Mutation_p.Q7*|ATP7B_uc010tgu.1_Nonsense_Mutation_p.Q7*|ATP7B_uc010tgv.1_Nonsense_Mutation_p.Q7*|UTP14C_uc001vfz.2_5'Flank|UTP14C_uc001vga.3_5'Flank|UTP14C_uc001vgb.3_5'Flank	NM_000053	NP_000044	P35670	ATP7B_HUMAN	Homo sapiens ATPase, Cu++ transporting, beta polypeptide (ATP7B), transcript variant 1, mRNA.	7					ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		GCTGTGATCTGTCTCTCCTGC	0.597000									Wilson disease					55			5		0	0	1	0	0
TMEM106B	54664	broad.mit.edu	37	7	12271476	12271476	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:12271476A>G	uc011jxk.2	+	8	1100	c.700A>G	c.(700-702)Aca>Gca	p.T234A	TMEM106B_uc003ssh.3_Missense_Mutation_p.T234A	NM_018374	NP_060844	Q9NUM4	T106B_HUMAN	Homo sapiens transmembrane protein 106B (TMEM106B), transcript variant 1, mRNA.	234						integral to membrane				NS(1)|endometrium(8)|large_intestine(2)|lung(7)	18				UCEC - Uterine corpus endometrioid carcinoma (126;0.185)		TACTGTGACAACAACATACTT	0.343000														57			12		0	0	1	0	0
ZNF318	24149	broad.mit.edu	37	6	43306331	43306331	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:43306331C>A	uc003oux.3	-	9	5483	c.5405G>T	c.(5404-5406)gGa>gTa	p.G1802V	ZNF318_uc003ouw.3_Intron	NM_014345	NP_055160	Q5VUA4	ZN318_HUMAN	Homo sapiens zinc finger protein 318 (ZNF318), mRNA.	1802					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			GCTGTGGGGTCCAATGCTGGT	0.423000														57			6		0.00307968	0.00322291	1	1	0
WNT2	7472	broad.mit.edu	37	7	116963006	116963006	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:116963006G>T	uc003viz.3	-	0	338	c.38C>A	c.(37-39)cCt>cAt	p.P13H	WNT2_uc003vja.3_5'UTR	NM_003391	NP_003382	P09544	WNT2_HUMAN	Homo sapiens wingless-type MMTV integration site family member 2 (WNT2), transcript variant 1, mRNA.	13					Wnt receptor signaling pathway, calcium modulating pathway|atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|extracellular space|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity			breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		CAAGAGCAGAGGGAGCCAGAG	0.622000														39			19		1.01871e-10	1.23424e-10	1	1	0
SAMD9L	219285	broad.mit.edu	37	7	92761672	92761672	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:92761672G>T	uc003umh.1	-	4	4829	c.3613C>A	c.(3613-3615)Ctt>Att	p.L1205I	SAMD9L_uc003umj.1_Missense_Mutation_p.L1205I|SAMD9L_uc003umi.1_Missense_Mutation_p.L1205I|SAMD9L_uc010lfb.1_Missense_Mutation_p.L1205I|SAMD9L_uc003umk.1_Missense_Mutation_p.L1205I|SAMD9L_uc010lfc.1_Missense_Mutation_p.L1205I|SAMD9L_uc010lfd.1_Missense_Mutation_p.L1205I|SAMD9L_uc022ahh.1_Missense_Mutation_p.L1205I	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA.	1205										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			ATAGTGTAAAGACCAACTTCT	0.373000														184			55		1.63038e-21	2.1118e-21	1	1	0
KRT28	162605	broad.mit.edu	37	17	38953513	38953513	+	Silent	SNP	G	A	A	rs144466094	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:38953513G>A	uc002hvh.1	-	3	777	c.711C>T	c.(709-711)tgC>tgT	p.C237C		NM_181535	NP_853513	Q7Z3Y7	K1C28_HUMAN	Homo sapiens keratin 28 (KRT28), mRNA.	237	Linker 12.|Rod.					cytoplasm|intermediate filament	structural molecule activity			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30		Breast(137;0.000301)				CCCCAGCCGCGCACTGCAGAG	0.557000														29			15		0	0	1	0	0
TMBIM1	64114	broad.mit.edu	37	2	219144799	219144799	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:219144799C>T	uc002vho.1	-	3	979	c.253G>A	c.(253-255)Ggg>Agg	p.G85R	PNKD_uc002vhn.3_Intron|TMBIM1_uc002vhp.1_Missense_Mutation_p.G85R|TMBIM1_uc010zjz.1_5'UTR|TMBIM1_uc010zka.1_5'UTR	NM_022152	NP_071435	Q969X1	TMBI1_HUMAN	Homo sapiens transmembrane BAX inhibitor motif containing 1 (TMBIM1), mRNA.	85						integral to membrane				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(2)	9		Renal(207;0.0474)		Epithelial(149;8.56e-07)|all cancers(144;0.000154)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCTCCAGGCCCGAAGCTATCA	0.587000														43			21		0	0	1	0	0
KIAA1377	57562	broad.mit.edu	37	11	101829098	101829098	+	Splice_Site	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:101829098G>A	uc001pgm.3	+	5	975	c.705_splice	c.e5+1	p.Q235_splice	KIAA1377_uc001pgn.3_Splice_Site_p.Q191_splice|KIAA1377_uc010run.2_Splice_Site_p.Q36_splice|KIAA1377_uc009yxa.1_Splice_Site_p.Q36_splice	NM_020802	NP_065853	Q9P2H0	K1377_HUMAN	Homo sapiens KIAA1377 (KIAA1377), mRNA.	235							protein binding			breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		CAATTTGCAAGTATGAAACTA	0.353000														80			21		0	0	1	0	0
ACACB	32	broad.mit.edu	37	12	109614053	109614053	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:109614053G>A	uc001tob.3	+	8	1541	c.1422G>A	c.(1420-1422)ccG>ccA	p.P474P	ACACB_uc001toc.3_Silent_p.P474P	NM_001093	NP_001084	O00763	ACACB_HUMAN	Homo sapiens acetyl-CoA carboxylase beta (ACACB), mRNA.	474	ATP-grasp.|Biotin carboxylation.				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	Golgi apparatus|cytosol|endomembrane system|membrane	ATP binding|acetyl-CoA carboxylase activity|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	AGGACTTCCCGATCCTTTTCA	0.478000														137			98		0	0	1	0	0
GPR37	2861	broad.mit.edu	37	7	124404931	124404931	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:124404931A>C	uc003vli.3	-	0	751	c.100T>G	c.(100-102)Tcc>Gcc	p.S34A		NM_005302	NP_005293	O15354	GPR37_HUMAN	Homo sapiens G protein-coupled receptor 37 (endothelin receptor type B-like) (GPR37), mRNA.	34						endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TCGTTTCTGGACGCAGGGGCG	0.642000														9			12		0	0	1	0	0
ABL1	25	broad.mit.edu	37	9	133750263	133750263	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:133750263C>A	uc004bzw.3	+	6	1097	c.1094C>A	c.(1093-1095)gCt>gAt	p.A365D	ABL1_uc004bzv.3_Missense_Mutation_p.A384D	NM_005157	NP_005148	P00519	ABL1_HUMAN	Homo sapiens c-abl oncogene 1, non-receptor tyrosine kinase (ABL1), transcript variant a, mRNA.	365	Protein kinase.				DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|SH3 domain binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding	p.L364I(4)|p.A365V(2)|p.?(1)		breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)	AGAGATCTTGCTGCCCGAAAC	0.517000			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""									81			6		2.0095e-06	2.27092e-06	1	1	0
NR2C2	7182	broad.mit.edu	37	3	15073889	15073889	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:15073889A>G	uc003bzj.4	+	9	1331	c.1114A>G	c.(1114-1116)Aca>Gca	p.T372A	NR2C2_uc003bzi.3_Missense_Mutation_p.T391A	NM_003298	NP_003289	P49116	NR2C2_HUMAN	Homo sapiens nuclear receptor subfamily 2, group C, member 2 (NR2C2), mRNA.	372					cell differentiation|nervous system development|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(5)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TTTCCAGCTAACAATGCCCAG	0.522000														111			76		0	0	1	0	0
RAB3IP	117177	broad.mit.edu	37	12	70149248	70149248	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:70149248G>A	uc001svp.3	+	1	555	c.108G>A	c.(106-108)ccG>ccA	p.P36P	RAB3IP_uc021rao.1_Silent_p.P20P|RAB3IP_uc001svm.3_Silent_p.P20P|RAB3IP_uc001svn.3_Silent_p.P20P|RAB3IP_uc001svo.3_Non-coding_Transcript|RAB3IP_uc001svq.3_Silent_p.P36P|RAB3IP_uc001svs.3_Non-coding_Transcript	NM_175623	NP_001019818	Q96QF0	RAB3I_HUMAN	Homo sapiens RAB3A interacting protein (rabin3) (RAB3IP), transcript variant alpha 2, mRNA.	36					Golgi to plasma membrane transport|cilium assembly|protein localization to organelle|protein transport	actin cortical patch|centrosome|cytosol|lamellipodium|microtubule basal body|nucleus	guanyl-nucleotide exchange factor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22	Esophageal squamous(21;0.187)		Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)			CTACTTCTCCGGACCTTCTTG	0.443000														53			27		0	0	1	0	0
MRPL46	26589	broad.mit.edu	37	15	89008934	89008934	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:89008934T>G	uc002bmj.2	-	1	324	c.299A>C	c.(298-300)aAg>aCg	p.K100T	MRPL46_uc002bmi.1_5'UTR|MRPS11_uc002bmm.3_5'Flank|MRPS11_uc002bmn.3_5'Flank|MRPS11_uc010bnj.3_5'Flank|MRPS11_uc002bml.3_5'Flank	NM_022163	NP_071446	Q9H2W6	RM46_HUMAN	Homo sapiens mitochondrial ribosomal protein L46 (MRPL46), nuclear gene encoding mitochondrial protein, mRNA.	100						mitochondrion|ribosome	hydrolase activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)	5	Lung NSC(78;0.203)		BRCA - Breast invasive adenocarcinoma(143;0.188)			AGCTTTCTTCTTTGCCAGTCG	0.423000														116			11		0	0	1	0	0
SLC25A13	10165	broad.mit.edu	37	7	95775897	95775897	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:95775897G>A	uc003uog.4	-	13	1617	c.1426C>T	c.(1426-1428)Cgg>Tgg	p.R476W	SLC25A13_uc003uof.4_Missense_Mutation_p.R475W|SLC25A13_uc011kik.2_Missense_Mutation_p.R367W	NM_001160210	NP_001153682	Q9UJS0	CMC2_HUMAN	Homo sapiens solute carrier family 25, member 13 (citrin) (SLC25A13), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	475					ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to plasma membrane|mitochondrial inner membrane	L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity|calcium ion binding	p.R475L(1)		breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)	CCCAGGTCCCGCACGACAGAC	0.403000														213			15		0	0	1	0	0
GK	2710	broad.mit.edu	37	4	166199156	166199156	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:166199156A>G	uc003ird.3	-	0	2020	c.1642T>C	c.(1642-1644)Tac>Cac	p.Y548H	KLHL2_uc003irb.3_Intron|KLHL2_uc011cjm.2_Intron|KLHL2_uc003irc.3_Intron|KLHL2_uc010ira.3_Intron	NM_000167	NP_000158	P32189	GLPK_HUMAN	Homo sapiens glycerol kinase (GK), transcript variant 2, mRNA.	554					glycerol-3-phosphate metabolic process|triglyceride biosynthetic process	cytosol|mitochondrial outer membrane	ATP binding|glycerol kinase activity			central_nervous_system(1)|large_intestine(3)	4						CCTGAGATGTACCTTGCTCCG	0.423000														62			34		0	0	1	0	0
TM4SF19	116211	broad.mit.edu	37	3	196053893	196053893	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:196053893G>A	uc010iad.2	-	2	370	c.212C>T	c.(211-213)gCa>gTa	p.A71V	TM4SF19_uc003fwj.3_Non-coding_Transcript|TM4SF19_uc003fwl.2_Missense_Mutation_p.A71V|TM4SF19_uc021xjs.1_Missense_Mutation_p.A71V|TM4SF19_uc011btv.2_Intron	NM_001204897	NP_001191826	Q96DZ7	T4S19_HUMAN	Homo sapiens transmembrane 4 L six family member 19 (TM4SF19), transcript variant 2, mRNA.	71						integral to membrane				endometrium(2)|kidney(2)|large_intestine(3)|lung(5)	12	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;3.94e-24)|all cancers(36;4.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.53e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00314)		GAGGATAGCTGCAGTGAGTAC	0.532000														17			7		0	0	1	0	0
RFX7	64864	broad.mit.edu	37	15	56385982	56385982	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:56385982G>T	uc010bfn.3	-	8	3944	c.3944C>A	c.(3943-3945)tCt>tAt	p.S1315Y	RFX7_uc010ugk.1_Non-coding_Transcript|RFX7_uc002adn.1_Missense_Mutation_p.S1129Y	NM_022841	NP_073752	Q2KHR2	RFX7_HUMAN	Homo sapiens regulatory factor X, 7 (RFX7), mRNA.	1218					regulation of transcription, DNA-dependent	nucleus	DNA binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						GGTGAGGTAAGATGGTGTTTG	0.388000														42			25		2.79863e-10	3.37315e-10	1	1	0
KLHDC7B	113730	broad.mit.edu	37	22	50987806	50987806	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:50987806A>G	uc003bmi.3	+	0	1345	c.1211A>G	c.(1210-1212)gAc>gGc	p.D404G		NM_138433	NP_612442	Q96G42	KLD7B_HUMAN	Homo sapiens kelch domain containing 7B (KLHDC7B), mRNA.	404								p.G404S(1)		central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	14		all_cancers(38;1.53e-10)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		OV - Ovarian serous cystadenocarcinoma(4;7.49e-69)|all cancers(3;9.79e-66)|Epithelial(4;1.3e-63)|GBM - Glioblastoma multiforme(4;0.000399)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GTGGCCCTGGACGGGCTGCTC	0.652000														68			10		0	0	1	0	0
CNGB3	54714	broad.mit.edu	37	8	87656038	87656038	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:87656038C>A	uc003ydx.3	-	9	1167	c.1119G>T	c.(1117-1119)tgG>tgT	p.W373C	CNGB3_uc010maj.3_Missense_Mutation_p.W235C	NM_019098	NP_061971	Q9NQW8	CNGB3_HUMAN	Homo sapiens cyclic nucleotide gated channel beta 3 (CNGB3), mRNA.	373					signal transduction|visual perception	integral to membrane	cGMP binding			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						AGTTTGAAGCCCAGTAATAAA	0.353000														91			12		6.40141e-05	6.99953e-05	1	1	0
SCFD2	152579	broad.mit.edu	37	4	54011572	54011572	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:54011572T>G	uc003gzu.3	-	4	1623	c.1489A>C	c.(1489-1491)Aaa>Caa	p.K497Q	SCFD2_uc010igm.3_Missense_Mutation_p.K497Q	NM_152540	NP_689753	Q8WU76	SCFD2_HUMAN	Homo sapiens sec1 family domain containing 2 (SCFD2), mRNA.	497					protein transport|vesicle docking involved in exocytosis					breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	30			GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)			TTCTTGACTTTTTCTTCTGCT	0.443000														58			44		0	0	1	0	0
IFNA7	3444	broad.mit.edu	37	9	21201944	21201944	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:21201944G>A	uc003zop.1	-	0	261	c.221C>T	c.(220-222)aCt>aTt	p.T74I	IFNA14_uc003zoo.1_Intron	NM_021057	NP_066401	P01567	IFNA7_HUMAN	Homo sapiens interferon, alpha 7 (IFNA7), mRNA.	74					blood coagulation|cell-cell signaling|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(6)	12				GBM - Glioblastoma multiforme(5;4.75e-197)|Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		GATGGCTTGAGTCTTCTGGAA	0.488000														77			45		0	0	1	0	0
SLFN11	91607	broad.mit.edu	37	17	33690097	33690097	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:33690097C>A	uc002hjg.4	-	1	977	c.730G>T	c.(730-732)Ggc>Tgc	p.G244C	SLFN11_uc010ctr.3_Missense_Mutation_p.G244C|SLFN11_uc010ctp.3_Missense_Mutation_p.G244C|SLFN11_uc010ctq.3_Missense_Mutation_p.G244C|SLFN11_uc002hjh.4_Missense_Mutation_p.G244C	NM_152270	NP_689483	Q7Z7L1	SLN11_HUMAN	Homo sapiens schlafen family member 11 (SLFN11), transcript variant 5, mRNA.	244						nucleus	ATP binding			autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AAAAGATAGCCTCCTCCAGTG	0.388000														120			63		1.95512e-22	2.53951e-22	1	1	0
PSG7	5676	broad.mit.edu	37	19	43439811	43439811	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:43439811G>A	uc002ovl.4	-	1	277	c.175C>T	c.(175-177)Ccc>Tcc	p.P59S	PSG3_uc002ouf.3_Intron|PSG4_uc010xwk.1_Intron|PSG7_uc010xwl.2_Intron	NM_002783	NP_002774	Q13046	PSG7_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) (PSG7), transcript variant 1, mRNA.	59	Ig-like V-type.				female pregnancy	extracellular region							Prostate(69;0.00682)				AGATTCTGGGGCAAATTGTGG	0.448000														118			76		0	0	1	0	0
EPB42	2038	broad.mit.edu	37	15	43503647	43503647	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:43503647G>A	uc001zrb.4	-	3	906	c.606C>T	c.(604-606)gaC>gaT	p.D202D	EPB42_uc001zqz.4_5'Flank|EPB42_uc001zra.4_Silent_p.D172D|EPB42_uc010udm.2_Silent_p.D94D	NM_000119	NP_000110	P16452	EPB42_HUMAN	Homo sapiens erythrocyte membrane protein band 4.2 (EPB42), transcript variant 1, mRNA.	172					erythrocyte maturation|peptide cross-linking|regulation of cell shape	cytoplasm|cytoskeleton|plasma membrane	ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton			endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)		CCTGGATGCAGTCAGCTGTAC	0.547000														75			6		0	0	1	0	0
ZNF274	10782	broad.mit.edu	37	19	58724255	58724255	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58724255A>G	uc002qrq.1	+	8	2164	c.1705A>G	c.(1705-1707)Agg>Ggg	p.R569G	ZNF274_uc002qrr.1_Missense_Mutation_p.R537G|ZNF274_uc002qrs.1_Missense_Mutation_p.R464G|ZNF274_uc010eum.1_Missense_Mutation_p.R329G	NM_133502	NP_598009	Q96GC6	ZN274_HUMAN	Homo sapiens zinc finger protein 274 (ZNF274), transcript variant ZNF274c, mRNA.	570					viral reproduction	centrosome|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)|skin(1)	21		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215)		GGAGTGTGGGAGGACCTTCAA	0.522000														54			7		0	0	1	0	0
MGAT4C	25834	broad.mit.edu	37	12	86377346	86377346	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:86377346T>G	uc010sum.2	-	4	481	c.322A>C	c.(322-324)Aat>Cat	p.N108H	MGAT4C_uc001tal.4_Missense_Mutation_p.N84H|MGAT4C_uc001taj.4_Missense_Mutation_p.N84H|MGAT4C_uc001tak.4_Missense_Mutation_p.N84H|MGAT4C_uc001tai.4_Missense_Mutation_p.N84H|MGAT4C_uc001tah.4_Missense_Mutation_p.N84H	NM_013244	NP_037376	Q9UBM8	MGT4C_HUMAN	Homo sapiens mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative) (MGAT4C), mRNA.	84					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						TAGGTGACATTTATGGCTCCT	0.328000														112			11		0	0	1	0	0
SGMS2	166929	broad.mit.edu	37	4	108829850	108829850	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:108829850G>A	uc003hyo.3	+	4	1496	c.857G>A	c.(856-858)cGa>cAa	p.R286Q	SGMS2_uc003hyl.4_Missense_Mutation_p.R286Q|AK123292_uc003hym.1_Intron|SGMS2_uc003hyn.3_Missense_Mutation_p.R286Q	NM_152621	NP_689834	Q8NHU3	SMS2_HUMAN	Homo sapiens sphingomyelin synthase 2 (SGMS2), transcript variant 1, mRNA.	286					sphingomyelin biosynthetic process	integral to Golgi membrane|integral to plasma membrane	ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity			central_nervous_system(1)|endometrium(2)|large_intestine(8)|liver(2)|lung(6)|prostate(1)	20				OV - Ovarian serous cystadenocarcinoma(123;2.95e-05)	Choline(DB00122)	ATCACAACACGACTGTTTTGG	0.423000														62			49		0	0	1	0	0
PCDH11X	27328	broad.mit.edu	37	X	91134164	91134164	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:91134164T>C	uc004efk.2	+	1	3770	c.2925T>C	c.(2923-2925)tgT>tgC	p.C975C	PCDH11X_uc004efl.2_Silent_p.C975C|PCDH11X_uc010nmv.2_Silent_p.C975C|PCDH11X_uc004efm.2_Silent_p.C975C|PCDH11X_uc004efn.2_Silent_p.C975C|PCDH11X_uc004efo.2_Silent_p.C975C|PCDH11X_uc004efh.2_Silent_p.C975C|PCDH11X_uc004efj.1_Silent_p.C975C	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	Homo sapiens protocadherin 11 X-linked (PCDH11X), transcript variant c, mRNA.	975					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						TTGTGGCCTGTGACTCTATCT	0.512000														125			35		0	0	1	0	0
FMNL1	752	broad.mit.edu	37	17	43320643	43320643	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:43320643G>T	uc002iin.3	+	16	2369	c.2169G>T	c.(2167-2169)cgG>cgT	p.R723R	FMNL1_uc002iiq.3_Silent_p.R301R|FMNL1_uc010dag.3_Non-coding_Transcript|FMNL1_uc021tyj.1_Silent_p.R50R	NM_005892	NP_005883	O95466	FMNL_HUMAN	Homo sapiens formin-like 1 (FMNL1), mRNA.	723	FH2.				actin cytoskeleton organization		Rho GTPase binding|actin binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						TCACCCTGCGGAAGGGCAACC	0.637000														60			8		1.12685e-05	1.25391e-05	1	1	0
ITGB7	3695	broad.mit.edu	37	12	53589427	53589427	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:53589427C>T	uc009zmv.3	-	6	1125	c.1054G>A	c.(1054-1056)Gca>Aca	p.A352T	ITGB7_uc001scc.3_Missense_Mutation_p.A352T|ITGB7_uc010snz.2_Non-coding_Transcript	NM_000889	NP_000880	P26010	ITB7_HUMAN	Homo sapiens integrin, beta 7 (ITGB7), mRNA.	352	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|regulation of immune response	integrin complex	identical protein binding|metal ion binding|receptor activity			NS(2)|breast(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ACAGGCAGTGCGGCACTGGTG	0.567000														58			43		0	0	1	0	0
AVPI1	60370	broad.mit.edu	37	10	99439405	99439405	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:99439405G>A	uc001koi.2	-	2	761	c.258C>T	c.(256-258)ggC>ggT	p.G86G	AVPI1_uc001koh.1_Silent_p.G86G	NM_021732	NP_068378	Q5T686	AVPI1_HUMAN	Homo sapiens arginine vasopressin-induced 1 (AVPI1), mRNA.	86					cell cycle					breast(1)|endometrium(1)|large_intestine(2)|skin(1)	5		Colorectal(252;0.162)		Epithelial(162;8.37e-11)|all cancers(201;7.94e-09)		GTAGCGAGTGGCCCAGGGGTT	0.617000														13			8		0	0	1	0	0
SPTB	6710	broad.mit.edu	37	14	65263287	65263287	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:65263287G>A	uc001xht.3	-	9	1380	c.1329C>T	c.(1327-1329)cgC>cgT	p.R443R	SPTB_uc001xhr.3_Silent_p.R443R|SPTB_uc001xhs.3_Silent_p.R443R|SPTB_uc001xhu.3_Silent_p.R443R	NM_000347	NP_000338	P11277	SPTB1_HUMAN	Homo sapiens spectrin, beta, erythrocytic (SPTB), transcript variant 2, mRNA.	443					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton	p.R443H(1)		breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		GGGCCACGAGGCGCTGGTTTT	0.587000														31			20		0	0	1	0	0
GANC	2595	broad.mit.edu	37	15	42638010	42638010	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:42638010A>C	uc001zpi.3	+	19	2598	c.2284A>C	c.(2284-2286)Atc>Ctc	p.I762L	CAPN3_uc001zpk.1_5'Flank|CAPN3_uc001zpl.1_5'Flank	NM_198141	NP_937784	Q8TET4	GANC_HUMAN	Homo sapiens glucosidase, alpha; neutral C (GANC), mRNA.	762					carbohydrate metabolic process		carbohydrate binding|maltose alpha-glucosidase activity			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)		GBM - Glioblastoma multiforme(94;1.06e-06)		TACTGTAAAGATCCCAGTAGC	0.408000														67			43		0	0	1	0	0
VPS13B	157680	broad.mit.edu	37	8	100523657	100523657	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:100523657G>A	uc003yiv.3	+	28	4736	c.4625G>A	c.(4624-4626)cGc>cAc	p.R1542H	VPS13B_uc003yiw.3_Missense_Mutation_p.R1517H|VPS13B_uc003yix.1_Missense_Mutation_p.R1012H	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA.	1542					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CTGACATCCCGCAATTTACCT	0.368000														17			19		0	0	1	0	0
COL20A1	57642	broad.mit.edu	37	20	61937231	61937231	+	Splice_Site	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:61937231A>G	uc011aau.2	+	5	438	c.338_splice	c.e5-2	p.I113_splice	COL20A1_uc011aav.2_5'Flank	NM_020882	NP_065933	Q9P218	COKA1_HUMAN	Homo sapiens collagen, type XX, alpha 1 (COL20A1), mRNA.	113	Fibronectin type-III 1.				cell adhesion	collagen|extracellular space	structural molecule activity			NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					GTCTCCCTGCAGTTGAGGATC	0.657000														16			11		0	0	1	0	0
KDM5C	8242	broad.mit.edu	37	X	53230839	53230839	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:53230839C>T	uc004drz.3	-	13	2487	c.1954G>A	c.(1954-1956)Gct>Act	p.A652T	KDM5C_uc022bxe.1_Missense_Mutation_p.A585T|KDM5C_uc004dsa.3_Missense_Mutation_p.A651T	NM_004187	NP_004178	P41229	KDM5C_HUMAN	Homo sapiens lysine (K)-specific demethylase 5C (KDM5C), transcript variant 1, mRNA.	652					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						GGGCAGGCAGCCATCTTGCAG	0.582000			"""N, F, S"""		clear cell renal carcinoma									37			17		0	0	1	0	0
BCORL1	63035	broad.mit.edu	37	X	129139263	129139263	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:129139263G>A	uc022cdu.1	+	0	100	c.56G>A	c.(55-57)cGg>cAg	p.R19Q		NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN	Homo sapiens BCL6 corepressor-like 1 (BCORL1), mRNA.	19					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						AGTTCTGACCGGATTCGCATG	0.607000														119			63		0	0	1	0	0
ATAD5	79915	broad.mit.edu	37	17	29162553	29162553	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:29162553C>T	uc002hfs.1	+	1	1797	c.1454C>T	c.(1453-1455)aCa>aTa	p.T485I	ATAD5_uc002hft.1_Missense_Mutation_p.T382I	NM_024857	NP_079133	Q96QE3	ATAD5_HUMAN	Homo sapiens ATPase family, AAA domain containing 5 (ATAD5), mRNA.	485					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				AATAAGAAAACATTAGATACT	0.308000														39			16		0	0	1	0	0
NOX4	50507	broad.mit.edu	37	11	89182670	89182670	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:89182670C>T	uc001pct.3	-	3	526	c.287G>A	c.(286-288)aGa>aAa	p.R96K	NOX4_uc009yvr.3_Missense_Mutation_p.R71K|NOX4_uc001pcu.3_Missense_Mutation_p.R22K|NOX4_uc001pcw.3_Intron|NOX4_uc001pcx.3_Intron|NOX4_uc001pcv.3_Missense_Mutation_p.R96K|NOX4_uc009yvo.3_Non-coding_Transcript|NOX4_uc010rtu.2_Intron|NOX4_uc009yvp.3_Missense_Mutation_p.R96K|NOX4_uc010rtv.2_Missense_Mutation_p.R72K|NOX4_uc009yvq.3_Missense_Mutation_p.R72K|NOX4_uc009yvs.1_Non-coding_Transcript	NM_016931	NP_001137309	Q9NPH5	NOX4_HUMAN	Homo sapiens NADPH oxidase 4 (NOX4), transcript variant 1, mRNA.	96	Ferric oxidoreductase.				cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	NAD(P)H oxidase activity|electron carrier activity|flavin adenine dinucleotide binding|heme binding|nucleotide binding|oxygen sensor activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				ATCCAACAATCTCCTGGTTCT	0.303000														28			18		0	0	1	0	0
DAPK2	23604	broad.mit.edu	37	15	64275811	64275811	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:64275811G>A	uc002amr.3	-	2	266	c.235C>T	c.(235-237)Cgg>Tgg	p.R79W	DAPK2_uc010uim.2_Intron|DAPK2_uc010bgu.1_Missense_Mutation_p.R69W	NM_014326	NP_055141	Q9UIK4	DAPK2_HUMAN	Homo sapiens death-associated protein kinase 2 (DAPK2), mRNA.	79	Protein kinase.				apoptosis|induction of apoptosis|intracellular protein kinase cascade	cytoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|identical protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	11				LUAD - Lung adenocarcinoma(2;0.215)		AGCACCTGCCGCAGGATGCTC	0.637000														25			21		0	0	1	0	0
PAPOLA	10914	broad.mit.edu	37	14	97002275	97002275	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:97002275G>A	uc001yfq.3	+	10	1186	c.969G>A	c.(967-969)caG>caA	p.Q323Q	PAPOLA_uc001yfr.3_Silent_p.Q323Q|PAPOLA_uc010twv.2_Silent_p.Q323Q|PAPOLA_uc010avp.3_Silent_p.Q73Q	NM_032632	NP_116021	P51003	PAPOA_HUMAN	Homo sapiens poly(A) polymerase alpha (PAPOLA), transcript variant 1, mRNA.	323					mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cytoplasm|nucleoplasm	ATP binding|RNA binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity			breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.213)		ACCCACAACAGAACTCCACGT	0.403000														57			28		0	0	1	0	0
IGSF9B	22997	broad.mit.edu	37	11	133790517	133790517	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:133790517G>A	uc001qgx.4	-	17	3334	c.3103C>T	c.(3103-3105)Cgc>Tgc	p.R1035C		NM_014987	NP_055802	Q9UPX0	TUTLB_HUMAN	Homo sapiens immunoglobulin superfamily, member 9B (IGSF9B), mRNA.	1035	Pro-rich.					integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		TCAGGGGAGCGCCCTCCTGTA	0.662000														53			36		0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152284256	152284256	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:152284256G>A	uc001ezu.1	-	2	3142	c.3106C>T	c.(3106-3108)Cgc>Tgc	p.R1036C	AK056431_uc001ezv.3_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	1036	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGCTGGTGGCGGGATCCGTGT	0.567000									Ichthyosis					275			252		0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155242188	155242188	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:155242188C>A	uc003inw.2	-	13	2998	c.2998G>T	c.(2998-3000)Gac>Tac	p.D1000Y		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.	1000	Cadherin 8.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GTTGAGCTGTCTATTTCAAAG	0.348000														86			56		5.39261e-20	6.9504e-20	1	1	0
OGDH	4967	broad.mit.edu	37	7	44747186	44747186	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:44747186G>A	uc003tln.3	+	21	2961	c.2802G>A	c.(2800-2802)tcG>tcA	p.S934S	OGDH_uc011kbx.2_Silent_p.S930S|OGDH_uc011kby.2_Silent_p.S784S|OGDH_uc003tlp.3_Silent_p.S945S|OGDH_uc011kbz.2_Silent_p.S729S	NM_002541	NP_002532	Q02218	ODO1_HUMAN	Homo sapiens oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide) (OGDH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	934					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					NADH(DB00157)	CCTAGCTGTCGCCATTCCCCT	0.552000														64			76		0	0	1	0	0
EDAR	10913	broad.mit.edu	37	2	109513511	109513511	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:109513511C>T	uc010fjn.3	-	11	1842	c.1295G>A	c.(1294-1296)cGc>cAc	p.R432H	EDAR_uc010yws.2_Missense_Mutation_p.R432H|EDAR_uc002teq.4_Missense_Mutation_p.R400H	NM_022336	NP_071731	Q9UNE0	EDAR_HUMAN	Homo sapiens ectodysplasin A receptor (EDAR), mRNA.	400					apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						CGTGCTGATGCGGTCAAAGAG	0.567000														22			8		0	0	1	0	0
MAST4	375449	broad.mit.edu	37	5	66426196	66426196	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:66426196G>T	uc021xzk.1	+	14	2212	c.1904G>T	c.(1903-1905)tGc>tTc	p.C635F	MAST4_uc003jut.2_Missense_Mutation_p.C446F|MAST4_uc003juu.1_Missense_Mutation_p.C456F|MAST4_uc011cra.1_Missense_Mutation_p.C429F|MAST4_uc003juv.2_Missense_Mutation_p.C441F|MAST4_uc003juw.3_Missense_Mutation_p.C441F	NM_001164664	NP_001158136	O15021	MAST4_HUMAN	Homo sapiens microtubule associated serine/threonine kinase family member 4 (MAST4), transcript variant 3, mRNA.	638	Protein kinase.					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		AGCATGTATTGCTCCTTTGAA	0.468000														81			10		2.68362e-12	3.30521e-12	1	1	0
NHLH1	4807	broad.mit.edu	37	1	160340879	160340879	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:160340879G>A	uc021pbs.1	+	0	358	c.358G>A	c.(358-360)Gcc>Acc	p.A120T	NHLH1_uc001fwa.2_Missense_Mutation_p.A120T	NM_005598	NP_005589	Q02575	HEN1_HUMAN	Homo sapiens nescient helix loop helix 1 (NHLH1), mRNA.	120	Helix-loop-helix motif.				cell differentiation|central nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	7	all_cancers(52;7.11e-19)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TCTGCGCCTGGCCATCTGCTA	0.622000														52			18		0	0	1	0	0
TRPC4AP	26133	broad.mit.edu	37	20	33637791	33637791	+	Nonsense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:33637791C>A	uc002xbk.3	-	5	569	c.535G>T	c.(535-537)Gga>Tga	p.G179*	TRPC4AP_uc010zur.2_Nonsense_Mutation_p.G140*|TRPC4AP_uc002xbl.3_Nonsense_Mutation_p.G179*|TRPC4AP_uc002xbm.1_Nonsense_Mutation_p.G179*	NM_015638	NP_056453	Q8TEL6	TP4AP_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 4 associated protein (TRPC4AP), transcript variant 1, mRNA.	179	Interaction with TNFRSF1A (By similarity).				protein ubiquitination|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	protein binding			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|skin(1)|stomach(1)|urinary_tract(1)	32			BRCA - Breast invasive adenocarcinoma(18;0.00936)			TTTGTAACTCCCTCTGTCTGT	0.368000														56			5		0.0215528	0.0220531	1	1	0
PCDHGC5	56097	broad.mit.edu	37	5	140788094	140788094	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140788094G>A	uc003lkj.2	+	0	325	c.325G>A	c.(325-327)Gtg>Atg	p.V109M	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lki.1_Missense_Mutation_p.V109M	NM_018926	NP_061749	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 6 (PCDHGB6), transcript variant 1, mRNA.	109	Cadherin 1.				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)			ATTGGAAGCTGTGGTGGAAAA	0.403000														67			41		0	0	1	0	0
SLC8A2	6543	broad.mit.edu	37	19	47969326	47969326	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:47969326G>A	uc010ele.3	-	0	351	c.335C>T	c.(334-336)gCc>gTc	p.A112V	SLC8A2_uc002pgx.3_Missense_Mutation_p.A112V|SLC8A2_uc010xyq.2_Intron|SLC8A2_uc010xyr.2_Intron			Q9UPR5	NAC2_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 2 (SLC8A2), mRNA.	112					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		CTCACCGTTGGCCTTGGTGAT	0.577000														24			23		0	0	1	0	0
ERI3	79033	broad.mit.edu	37	1	44774067	44774067	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:44774067C>T	uc001clt.3	-	5	914	c.673G>A	c.(673-675)Gat>Aat	p.D225N	ERI3_uc010okv.2_Missense_Mutation_p.D48N|ERI3_uc010okw.2_Missense_Mutation_p.D147N	NM_024066	NP_076971	O43414	ERI3_HUMAN	Homo sapiens ERI1 exoribonuclease family member 3 (ERI3), mRNA.	225	Exonuclease.					intracellular	exonuclease activity|metal ion binding|nucleic acid binding			endometrium(2)|large_intestine(2)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						ATCCATTCATCGACCCTCTGA	0.423000														136			97		0	0	1	0	0
FAM73B	84895	broad.mit.edu	37	9	131823542	131823542	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:131823542G>A	uc004bxa.3	+	8	1113	c.927G>A	c.(925-927)ccG>ccA	p.P309P	FAM73B_uc004bwy.3_Non-coding_Transcript|FAM73B_uc004bwz.3_Non-coding_Transcript|FAM73B_uc011mbn.1_Silent_p.P309P	NM_032809	NP_116198	Q7L4E1	FA73B_HUMAN	Homo sapiens family with sequence similarity 73, member B (FAM73B), mRNA.	309						integral to membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)	13						GAGATTACCCGATCCCACTCT	0.642000											OREG0003927	type=REGULATORY REGION|Gene=FAM73B|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		5			4		0	0	1	0	0
HNRNPH2	3188	broad.mit.edu	37	X	100668321	100668321	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:100668321G>A	uc022cai.1	+	0	1345	c.1345G>A	c.(1345-1347)Gct>Act	p.A449T	RPL36A-HNRNPH2_uc022cag.1_3'UTR|RPL36A-HNRNPH2_uc022cah.1_3'UTR|HNRNPH2_uc004ehm.3_Missense_Mutation_p.A449T|HNRNPH2_uc004ehn.3_Missense_Mutation_p.A449T	NM_019597	NP_062543	P55795	HNRH2_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein H2 (H') (HNRNPH2), transcript variant 1, mRNA.	449					nuclear mRNA splicing, via spliceosome	actin cytoskeleton|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	RNA binding|nucleotide binding|protein binding			breast(3)|large_intestine(2)|lung(6)|skin(1)	12						GTCAAACCTTGCTTAGGTAGA	0.428000														182			15		0	0	1	0	0
NUP107	57122	broad.mit.edu	37	12	69083346	69083346	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:69083346C>A	uc001suf.3	+	2	249	c.134C>A	c.(133-135)aCt>aAt	p.T45N	LOC100507250_uc021rac.1_5'Flank|NUP107_uc001sug.3_5'UTR|NUP107_uc010stj.2_Missense_Mutation_p.L7I	NM_020401	NP_065134	P57740	NU107_HUMAN	Homo sapiens nucleoporin 107kDa (NUP107), mRNA.	45					carbohydrate metabolic process|glucose transport|mRNA export from nucleus|mitotic prometaphase|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	Nup107-160 complex|condensed chromosome kinetochore|cytosol	nucleocytoplasmic transporter activity|protein binding	p.T45A(1)	NUP107/LGR5(2)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			TTTGGTAATACTACACCAAGA	0.328000														80			7		0.00448238	0.0046769	1	1	0
IRF8	3394	broad.mit.edu	37	16	85936747	85936747	+	Silent	SNP	C	T	T	rs150193781		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:85936747C>T	uc002fjh.3	+	1	183	c.126C>T	c.(124-126)caC>caT	p.H42H	IRF8_uc002fji.3_Silent_p.H42H	NM_002163	NP_002154	Q02556	IRF8_HUMAN	Homo sapiens interferon regulatory factor 8 (IRF8), mRNA.	42					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24		Prostate(104;0.0771)				CTTGGAAACACGCTGGCAAGC	0.507000														42			10		0	0	1	0	0
RECQL	5965	broad.mit.edu	37	12	21644539	21644539	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:21644539G>A	uc001rex.3	-	3	476	c.128C>T	c.(127-129)aCa>aTa	p.T43I	RECQL_uc001rey.3_Missense_Mutation_p.T43I	NM_032941	NP_116559	P46063	RECQ1_HUMAN	Homo sapiens RecQ protein-like (DNA helicase Q1-like) (RECQL), transcript variant 2, mRNA.	43					DNA recombination|DNA repair|DNA replication	nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|DNA strand annealing activity|protein binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17						TATTTTCTTTGTCAGGACTTT	0.368000								Other identified genes with known or suspected DNA repair function						40			5		0	0	1	0	0
GAPT	202309	broad.mit.edu	37	5	57790694	57790694	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:57790694C>T	uc003jro.1	+	2	725	c.331C>T	c.(331-333)Cta>Tta	p.L111L	GAPT_uc021xyy.1_Silent_p.L111L	NM_152687	NP_689900	Q8N292	GAPT_HUMAN	Homo sapiens GRB2-binding adaptor protein, transmembrane (GAPT), mRNA.	111					B cell activation	integral to membrane|plasma membrane				NS(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7						CGATAAGGAACTATATGAAAA	0.418000														55			33		0	0	1	0	0
HOOK1	51361	broad.mit.edu	37	1	60324163	60324163	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:60324163C>T	uc009wad.3	+	13	1408	c.1306C>T	c.(1306-1308)Caa>Taa	p.Q436*	HOOK1_uc001czo.3_Nonsense_Mutation_p.Q436*|HOOK1_uc001czp.3_Non-coding_Transcript|HOOK1_uc010oor.2_Nonsense_Mutation_p.Q394*	NM_015888	NP_056972	Q9UJC3	HOOK1_HUMAN	Homo sapiens hook homolog 1 (Drosophila) (HOOK1), mRNA.	436	Sufficient for interaction with microtubules.				early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|multicellular organismal development|protein transport	FHF complex|microtubule	identical protein binding			biliary_tract(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|urinary_tract(1)	29	all_cancers(7;0.000129)					TTCACAAGTACAACAGGACCA	0.343000														32			22		0	0	1	0	0
PLCH1	23007	broad.mit.edu	37	3	155210521	155210521	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:155210521G>A	uc021xge.1	-	16	2545	c.2268C>T	c.(2266-2268)ggC>ggT	p.G756G	PLCH1_uc021xgd.1_Silent_p.G756G|PLCH1_uc021xgf.1_Silent_p.G738G	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Homo sapiens phospholipase C, eta 1 (PLCH1), transcript variant 1, mRNA.	756	C2.				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			AACTTACCTCGCCTCGATCTC	0.438000														28			30		0	0	1	0	0
PCBP3	54039	broad.mit.edu	37	21	47320530	47320530	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:47320530G>A	uc010gqb.3	+	5	478	c.215G>A	c.(214-216)cGt>cAt	p.R72H	PCBP3_uc002zhp.2_Missense_Mutation_p.R72H|PCBP3_uc010gqc.2_Missense_Mutation_p.R72H|PCBP3_uc002zhq.2_Missense_Mutation_p.R72H|PCBP3_uc002zhs.2_Missense_Mutation_p.R72H|PCBP3_uc002zht.2_Missense_Mutation_p.R40H	NM_020528	NP_065389	P57721	PCBP3_HUMAN	Homo sapiens poly(rC) binding protein 3 (PCBP3), transcript variant 1, mRNA.	72	KH 1.				mRNA metabolic process	cytosol|mitochondrion|nucleus|ribonucleoprotein complex	DNA binding|RNA binding			biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17	all_hematologic(128;0.24)			Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)		AAGAAGATGCGTGAGGAGGTG	0.607000														30			15		0	0	1	0	0
OR1D2	4991	broad.mit.edu	37	17	2996130	2996130	+	Missense_Mutation	SNP	C	T	T	rs139391156		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:2996130C>T	uc010vrb.2	-	0	161	c.161G>A	c.(160-162)cGc>cAc	p.R54H		NM_002548	NP_002539	P34982	OR1D2_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily D, member 2 (OR1D2), mRNA.	54					cellular component movement|chemotaxis|protein import into nucleus, translocation|sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(2)|lung(10)|ovary(1)	15						GGTGTGCAGGCGGGAATCAGA	0.552000														127			7		0	0	1	0	0
ABCA11P	79963	broad.mit.edu	37	4	438011	438011	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:438011T>C	uc003gaf.4	-	2	567	c.341A>G	c.(340-342)cAa>cGa	p.Q114R	ABCA11P_uc003gac.2_Intron|ABCA11P_uc003gad.2_Intron|ABCA11P_uc011buv.2_Intron|ABCA11P_uc003gae.3_Intron|ABCA11P_uc010ibd.2_Intron|ABCA11P_uc003gag.3_Missense_Mutation_p.Q82R|ABCA11P_uc010ibe.3_Missense_Mutation_p.Q70R	NM_133474	NP_597731			Homo sapiens zinc finger protein 721 (ZNF721), mRNA.																		TGCATTACATTGAAATATTTT	0.318000														68			6		0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152506786	152506786	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:152506786C>A	uc021vrb.1	-	51	7364	c.7335G>T	c.(7333-7335)aaG>aaT	p.K2445N	NEB_uc002txu.3_Missense_Mutation_p.K2445N|NEB_uc021vrc.1_Missense_Mutation_p.K2445N|NEB_uc010fnx.3_Missense_Mutation_p.K2445N|NEB_uc021vrd.1_Missense_Mutation_p.K2445N	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	2445					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GACGATATTTCTTCTCACTGA	0.448000														73			8		1.12685e-05	1.25391e-05	1	1	0
CNOT6L	246175	broad.mit.edu	37	4	78695850	78695850	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:78695850T>C	uc011ccd.2	-	2	279	c.148A>G	c.(148-150)Aca>Gca	p.T50A	CNOT6L_uc003hks.3_Missense_Mutation_p.T50A|CNOT6L_uc011cce.1_Missense_Mutation_p.T50A	NM_144571	NP_653172	Q96LI5	CNO6L_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 6-like (CNOT6L), mRNA.	50					nuclear-transcribed mRNA poly(A) tail shortening	cytosol	exonuclease activity|protein binding			kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	9						CAAAGTGATGTACTTAGGCTC	0.418000														6			5		0	0	1	0	0
KCTD21	283219	broad.mit.edu	37	11	77885145	77885145	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:77885145G>T	uc001ozb.3	-	1	531	c.456C>A	c.(454-456)tcC>tcA	p.S152S	KCTD21_uc021qnx.1_Silent_p.S152S	NM_001029859	NP_001025030	Q4G0X4	KCD21_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 21 (KCTD21), mRNA.	152						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(2)	11	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.46e-24)			GGAAGAGGCAGGAGGTGCTGA	0.567000														80			8		0.0381472	0.0388409	1	1	0
PLEC	5339	broad.mit.edu	37	8	144993745	144993745	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:144993745G>A	uc003zaf.1	-	31	10825	c.10655C>T	c.(10654-10656)gCg>gTg	p.A3552V	PLEC_uc003zab.1_Missense_Mutation_p.A3415V|PLEC_uc003zac.1_Missense_Mutation_p.A3419V|PLEC_uc003zad.2_Missense_Mutation_p.A3415V|PLEC_uc003zae.1_Missense_Mutation_p.A3383V|PLEC_uc003zag.1_Missense_Mutation_p.A3393V|PLEC_uc003zah.2_Missense_Mutation_p.A3401V|PLEC_uc003zaj.2_Missense_Mutation_p.A3442V	NM_201380	NP_958782	Q15149	PLEC_HUMAN	Homo sapiens plectin (PLEC), transcript variant 6, mRNA.	3552	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CACCACGCCCGCCTTCACGGC	0.687000														22			11		0	0	1	0	0
PTGFRN	5738	broad.mit.edu	37	1	117529477	117529477	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:117529477T>C	uc001egv.1	+	8	2665	c.2528T>C	c.(2527-2529)aTc>aCc	p.I843T		NM_020440	NP_065173	Q9P2B2	FPRP_HUMAN	Homo sapiens prostaglandin F2 receptor negative regulator (PTGFRN), mRNA.	843						Golgi apparatus|endoplasmic reticulum membrane|integral to membrane	protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		TCCACGGTCATCGGGCTCCTG	0.602000														82			7		0	0	1	0	0
CALR	811	broad.mit.edu	37	19	13054427	13054427	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:13054427C>T	uc002mvu.2	+	7	1117	c.1037C>T	c.(1036-1038)aCg>aTg	p.T346M	RAD23A_uc002mvw.1_5'Flank|RAD23A_uc002mvz.1_5'Flank|RAD23A_uc010xmw.1_5'Flank	NM_004343	NP_004334	P27797	CALR_HUMAN	Homo sapiens calreticulin (CALR), mRNA.	346	C-domain.				cell cycle arrest|cellular senescence|glucocorticoid receptor signaling pathway|negative regulation of neuron differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of steroid hormone receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of translation|peptide antigen assembly with MHC class I protein complex|positive regulation of DNA replication|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of phagocytosis|post-translational protein modification|protein N-linked glycosylation via asparagine|protein export from nucleus|protein maturation by protein folding|protein stabilization|regulation of apoptosis|sequestering of calcium ion	MHC class I peptide loading complex|cytosol|endoplasmic reticulum lumen|extracellular space|nucleus|perinuclear region of cytoplasm|polysome|proteinaceous extracellular matrix	DNA binding|androgen receptor binding|calcium ion binding|chaperone binding|complement component C1q binding|integrin binding|mRNA binding|protein binding involved in protein folding|sugar binding|ubiquitin protein ligase binding|unfolded protein binding|zinc ion binding	p.T346T(1)		kidney(1)|large_intestine(3)|lung(5)|ovary(1)	10					Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGCAACGAGACGTGGGGCGTA	0.602000														36			20		0	0	1	0	0
DNAI2	64446	broad.mit.edu	37	17	72278016	72278016	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:72278016C>A	uc002jkf.3	+	1	170	c.60C>A	c.(58-60)ttC>ttA	p.F20L	DNAI2_uc002jkg.3_Missense_Mutation_p.F20L|DNAI2_uc010dfp.3_Non-coding_Transcript	NM_023036	NP_075462	Q9GZS0	DNAI2_HUMAN	Homo sapiens dynein, axonemal, intermediate chain 2 (DNAI2), transcript variant 1, mRNA.	20					cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						AGTGCAATTTCTCGGACCGCC	0.622000									Kartagener syndrome					62			37		2.09667e-21	2.71394e-21	1	1	0
MCC	4163	broad.mit.edu	37	5	112406886	112406886	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:112406886G>T	uc003kql.4	-	11	2246	c.1830C>A	c.(1828-1830)acC>acA	p.T610T	MCC_uc003kqj.4_Silent_p.T420T|MCC_uc003kqk.4_Non-coding_Transcript|MCC_uc011cwb.1_Silent_p.T420T|MCC_uc010jcd.1_Silent_p.T382T	NM_001085377	NP_001078846	P23508	CRCM_HUMAN	Homo sapiens mutated in colorectal cancers (MCC), transcript variant 1, mRNA.	420					Wnt receptor signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		ATTCCTCCAAGGTTATGGTCA	0.463000														133			14		0.146539	0.148518	1	1	0
ECD	11319	broad.mit.edu	37	10	74912051	74912051	+	Splice_Site	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:74912051C>A	uc009xqx.3	-	7	1155	c.912_splice	c.e7+1	p.L304_splice	ECD_uc001jtn.3_Splice_Site_p.L304_splice|ECD_uc009xqy.3_Intron|ECD_uc001jto.3_Splice_Site_p.L3_splice	NM_001135752	NP_001129224	O95905	SGT1_HUMAN	Homo sapiens ecdysoneless homolog (Drosophila) (ECD), transcript variant 2, mRNA.	304					regulation of glycolysis|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	transcription coactivator activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(51;0.0119)					TCAACATTACCAATTTCATGC	0.428000														60			6		0.000157383	0.000170012	1	1	0
UNC5D	137970	broad.mit.edu	37	8	35616915	35616915	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:35616915C>A	uc003xjr.2	+	13	2569	c.2241C>A	c.(2239-2241)acC>acA	p.T747T	UNC5D_uc003xjs.2_Silent_p.T742T|UNC5D_uc003xju.2_Silent_p.T323T	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN	Homo sapiens unc-5 homolog D (C. elegans) (UNC5D), mRNA.	747					apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		AAGGGAATACCTTTAGTCTTC	0.418000														92			62		1.31726e-23	1.71762e-23	1	1	0
ZNF234	10780	broad.mit.edu	37	19	44661185	44661185	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:44661185C>T	uc002oym.3	+	5	1323	c.1016C>T	c.(1015-1017)aCa>aTa	p.T339I	ZNF234_uc002oyl.4_Missense_Mutation_p.T339I	NM_006630	NP_006621	Q14588	ZN234_HUMAN	Homo sapiens zinc finger protein 234 (ZNF234), transcript variant 1, mRNA.	339					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23		Prostate(69;0.0435)				AGGGTCCACACAGGAGAGAAA	0.448000														46			7		0	0	1	0	0
PM20D1	148811	broad.mit.edu	37	1	205819191	205819191	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:205819191G>A	uc001hdj.3	-	0	86	c.10C>T	c.(10-12)Cgg>Tgg	p.R4W	PM20D1_uc009xbr.3_Non-coding_Transcript	NM_152491	NP_689704	Q6GTS8	P20D1_HUMAN	Homo sapiens peptidase M20 domain containing 1 (PM20D1), mRNA.	4						extracellular region	metal ion binding|peptidase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)	28	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			CAAACGCACCGCTGAGCCATG	0.592000														22			20		0	0	1	0	0
PPP1R2P3	153743	broad.mit.edu	37	5	156277973	156277973	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:156277973C>T	uc003lwf.1	+	0	425	c.400C>T	c.(400-402)Cga>Tga	p.R134*						Homo sapiens protein phosphatase 1, regulatory (inhibitor) subunit 2 pseudogene 3 (PPP1R2P3), non-coding RNA.																		ACCTGAAGAACGAGAAAAAAA	0.418000														27			15		0	0	1	0	0
CCDC88A	55704	broad.mit.edu	37	2	55571571	55571571	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:55571571G>A	uc002ryv.2	-	10	1963	c.1121C>T	c.(1120-1122)tCt>tTt	p.S374F	CCDC88A_uc010ypa.1_Missense_Mutation_p.S374F|CCDC88A_uc010yoz.1_Missense_Mutation_p.S374F|CCDC88A_uc010ypb.1_Missense_Mutation_p.S276F	NM_001135597	NP_001129069	Q3V6T2	GRDN_HUMAN	Homo sapiens coiled-coil domain containing 88A (CCDC88A), transcript variant 1, mRNA.	374					DNA replication|TOR signaling cascade|activation of protein kinase B activity|cell migration|cellular membrane organization|lamellipodium assembly|microtubule cytoskeleton organization|regulation of DNA replication|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of neuron projection development	Golgi apparatus|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						TAATTTATCAGAACGAGCACG	0.318000														33			14		0	0	1	0	0
STAT4	6775	broad.mit.edu	37	2	191897813	191897813	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:191897813C>T	uc002usm.2	-	20	2230	c.1915G>A	c.(1915-1917)Gct>Act	p.A639T	STAT4_uc002usn.2_Missense_Mutation_p.A639T|STAT4_uc010zgk.1_Missense_Mutation_p.A484T|STAT4_uc002uso.2_Missense_Mutation_p.A639T	NM_003151	NP_003142	Q14765	STAT4_HUMAN	Homo sapiens signal transducer and activator of transcription 4 (STAT4), transcript variant 1, mRNA.	639	SH2.				JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			AGGATGTCAGCGAATGGCAGA	0.438000														41			34		0	0	1	0	0
ARHGAP33	115703	broad.mit.edu	37	19	36276168	36276168	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:36276168G>A	uc002obs.2	+	17	1943	c.1799G>A	c.(1798-1800)gGc>gAc	p.G600D	ARHGAP33_uc002obr.2_Missense_Mutation_p.G600D|ARHGAP33_uc002obt.2_Missense_Mutation_p.G464D|ARHGAP33_uc002obv.1_Missense_Mutation_p.G188D	NM_052948	NP_443180	O14559	RHG33_HUMAN	Homo sapiens Rho GTPase activating protein 33 (ARHGAP33), transcript variant 1, mRNA.	600					cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						CTGGGCCGGGGCCCCAGTGTC	0.677000														28			17		0	0	1	0	0
EMX2	2018	broad.mit.edu	37	10	119303166	119303166	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:119303166C>A	uc001ldh.4	+	0	1211	c.388C>A	c.(388-390)Ctg>Atg	p.L130M	EMX2OS_uc001ldf.3_5'Flank|EMX2OS_uc001ldg.3_Intron|EMX2_uc001ldi.4_Missense_Mutation_p.L130M	NM_004098	NP_004089	Q04743	EMX2_HUMAN	Homo sapiens empty spiracles homeobox 2 (EMX2), transcript variant 1, mRNA.	130						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(2)	12		Colorectal(252;0.109)|Lung NSC(174;0.179)|all_lung(145;0.22)		all cancers(201;0.0133)		CTACCGATATCTGGGTCATCG	0.682000														31			17		0.0496948	0.0505415	1	1	0
TRPC6	7225	broad.mit.edu	37	11	101342090	101342090	+	Missense_Mutation	SNP	C	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:101342090C>G	uc001pgk.4	-	8	2658	c.2233G>C	c.(2233-2235)Gca>Cca	p.A745P	TRPC6_uc009ywy.3_Missense_Mutation_p.A629P|TRPC6_uc009ywz.1_Missense_Mutation_p.A690P	NM_004621	NP_004612	Q9Y210	TRPC6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 6 (TRPC6), mRNA.	745					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		TTGGCCCTTGCAAATTTCCAC	0.428000														55			9		0	0	1	0	0
EIF4G3	8672	broad.mit.edu	37	1	21137325	21137325	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:21137325C>T	uc001bec.3	-	30	4738	c.4482G>A	c.(4480-4482)ccG>ccA	p.P1494P	EIF4G3_uc010odi.2_Silent_p.P1098P|EIF4G3_uc010odj.2_Silent_p.P1493P|EIF4G3_uc009vpz.3_Silent_p.P1214P|EIF4G3_uc001bef.3_Silent_p.P1530P|EIF4G3_uc001bee.3_Silent_p.P1500P	NM_003760	NP_003751	O43432	IF4G3_HUMAN	Homo sapiens eukaryotic translation initiation factor 4 gamma, 3 (EIF4G3), transcript variant 3, mRNA.	1494	EIF4A-binding (By similarity).|W2.				RNA metabolic process|interspecies interaction between organisms|regulation of translational initiation	eukaryotic translation initiation factor 4F complex	RNA cap binding|protein binding|translation initiation factor activity			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		TGAGTAAGATCGGCACTCTCT	0.413000														72			36		0	0	1	0	0
PTPN13	5783	broad.mit.edu	37	4	87622930	87622930	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:87622930C>A	uc003hpz.3	+	6	1651	c.1171C>A	c.(1171-1173)Ctg>Atg	p.L391M	PTPN13_uc003hpy.3_Missense_Mutation_p.L391M|PTPN13_uc003hqa.3_Missense_Mutation_p.L391M|PTPN13_uc003hqb.3_Missense_Mutation_p.L391M	NM_080683	NP_542414	Q12923	PTN13_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase) (PTPN13), transcript variant 1, mRNA.	391						cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		ACTTCAGGTTCTGAGGGAAGC	0.358000														46			4		0.000602214	0.000641151	1	1	0
RUFY1	80230	broad.mit.edu	37	5	178996388	178996388	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:178996388G>A	uc003mka.1	+	4	790	c.790G>A	c.(790-792)Gcc>Acc	p.A264T	RUFY1_uc003mkb.1_Missense_Mutation_p.A156T|RUFY1_uc003mkc.1_Missense_Mutation_p.A156T	NM_025158	NP_001035542	Q96T51	RUFY1_HUMAN	Homo sapiens RUN and FYVE domain containing 1 (RUFY1), transcript variant 1, mRNA.	264	RUN.				endocytosis|protein transport	early endosome membrane	lipid binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195)	all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGTTCTCGATGCCAATCTCTG	0.443000										HNSCC(44;0.11)				79			42		0	0	1	0	0
KBTBD10	10324	broad.mit.edu	37	2	170382175	170382175	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:170382175G>A	uc002ueu.1	+	5	1867	c.1790G>A	c.(1789-1791)cGt>cAt	p.R597H	KBTBD10_uc010zdh.1_Missense_Mutation_p.R535H	NM_006063	NP_006054	O60662	KBTBA_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 10 (KBTBD10), mRNA.	597					striated muscle contraction	centrosome|nucleolus|plasma membrane|pseudopodium|ruffle				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|urinary_tract(1)	19						CTAGCAACACGTTTAAATCTC	0.373000														44			18		0	0	1	0	0
DCAF7	10238	broad.mit.edu	37	17	61662612	61662612	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:61662612G>A	uc002jbc.3	+	6	995	c.778G>A	c.(778-780)Gcc>Acc	p.A260T	DCAF7_uc002jbb.3_Non-coding_Transcript|DCAF7_uc010wpn.2_Missense_Mutation_p.A60T	NM_005828	NP_005819	P61962	DCAF7_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 7 (DCAF7), mRNA.	260					multicellular organismal development	CUL4 RING ubiquitin ligase complex|cytoplasm|nucleus	protein binding			endometrium(6)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)	18						CACACCTGTCGCCAGGTTAAA	0.473000														52			29		0	0	1	0	0
CEP152	22995	broad.mit.edu	37	15	49048132	49048132	+	Missense_Mutation	SNP	G	T	T	rs74553953		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:49048132G>T	uc001zwz.3	-	19	3506	c.3313C>A	c.(3313-3315)Ctt>Att	p.L1105I	CEP152_uc001zwy.3_Missense_Mutation_p.L1105I|CEP152_uc001zxa.2_Missense_Mutation_p.L1012I	NM_001194998	NP_001181927	O94986	CE152_HUMAN	Homo sapiens centrosomal protein 152kDa (CEP152), transcript variant 1, mRNA.	1105					G2/M transition of mitotic cell cycle|centrosome duplication	centrosome|cytosol	protein kinase binding	p.L1104L(1)		breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		TTTTCTACAAGCAGAGGAAGT	0.368000														85			49		9.52127e-25	1.24415e-24	1	1	0
TMEM143	55260	broad.mit.edu	37	19	48848500	48848500	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:48848500G>A	uc002pix.1	-	3	490	c.481C>T	c.(481-483)Ctg>Ttg	p.L161L	TMEM143_uc002piw.1_Non-coding_Transcript|TMEM143_uc010xzn.1_Intron|TMEM143_uc010elw.1_Intron|TMEM143_uc010xzo.1_5'UTR|TMEM143_uc002piy.1_Silent_p.L126L|TMEM143_uc010xzp.1_Intron|TMEM143_uc010xzq.1_Intron	NM_018273	NP_060743	Q96AN5	TM143_HUMAN	Homo sapiens transmembrane protein 143 (TMEM143), mRNA.	161						integral to membrane|mitochondrion				endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	14		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000149)|all cancers(93;0.000198)|Epithelial(262;0.0151)|GBM - Glioblastoma multiforme(486;0.0157)		GCCTGGGCCAGCAGGGGCTCC	0.632000														65			46		0	0	1	0	0
FXR2	9513	broad.mit.edu	37	17	7496313	7496313	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7496313G>T	uc002gia.2	-	12	1882	c.1517C>A	c.(1516-1518)tCt>tAt	p.S506Y	SOX15_uc002ghy.1_5'Flank|SOX15_uc002ghz.1_5'Flank	NM_004860	NP_004851	P51116	FXR2_HUMAN	Homo sapiens fragile X mental retardation, autosomal homolog 2 (FXR2), mRNA.	506						cytosolic large ribosomal subunit	RNA binding|protein binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26				READ - Rectum adenocarcinoma(115;0.17)		TGAGCTAATAGATGAAGAATT	0.597000														29			22		3.7963e-18	4.85618e-18	1	1	0
VPS45	11311	broad.mit.edu	37	1	150040755	150040755	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:150040755C>T	uc001etp.3	+	1	735	c.162C>T	c.(160-162)cgC>cgT	p.R54R	VPS45_uc010pbp.1_Non-coding_Transcript|VPS45_uc010pbq.2_Silent_p.R18R|VPS45_uc010pbs.2_Silent_p.R18R|VPS45_uc009wlm.1_Silent_p.R54R|VPS45_uc010pbr.1_Silent_p.R18R	NM_007259	NP_009190	Q9NRW7	VPS45_HUMAN	Homo sapiens vacuolar protein sorting 45 homolog (S. cerevisiae) (VPS45), mRNA.	54					blood coagulation|intracellular protein transport|vesicle docking involved in exocytosis	Golgi membrane|endosome membrane|integral to membrane of membrane fraction				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21	Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			TCTTTGAACGCATTGATTCTC	0.398000														97			15		0	0	1	0	0
BCOR	54880	broad.mit.edu	37	X	39933021	39933021	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:39933021C>T	uc004den.4	-	3	1870	c.1578G>A	c.(1576-1578)tcG>tcA	p.S526S	BCOR_uc004dep.4_Silent_p.S526S|BCOR_uc004deo.4_Silent_p.S526S|BCOR_uc004dem.4_Silent_p.S526S|BCOR_uc004deq.4_Silent_p.S526S	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN	Homo sapiens BCL6 corepressor (BCOR), transcript variant 5, mRNA.	526					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	p.M525I(1)		breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						TGTTTTTCAGCGACATGCTTT	0.532000			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic							26			22		0	0	1	0	0
SLC39A10	57181	broad.mit.edu	37	2	196544795	196544795	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:196544795G>A	uc002utg.4	+	1	243	c.29G>A	c.(28-30)tGc>tAc	p.C10Y	SLC39A10_uc002uth.4_Missense_Mutation_p.C10Y|SLC39A10_uc010zgp.2_Intron	NM_001127257	NP_065075	Q9ULF5	S39AA_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 10 (SLC39A10), transcript variant 1, mRNA.	10					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(16)|pancreas(1)|prostate(1)|skin(2)	34			OV - Ovarian serous cystadenocarcinoma(117;0.221)			ACAAAATTTTGCCTCATTTGT	0.368000														53			4		0	0	1	0	0
CXXC11	285093	broad.mit.edu	37	2	242815105	242815105	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:242815105G>A	uc010fzu.1	+	1	1421	c.1398G>A	c.(1396-1398)acG>acA	p.T466T		NM_173821	NP_776182	Q14D33	CB085_HUMAN	Homo sapiens CXXC finger protein 11 (CXXC11), mRNA.	466						integral to membrane											GCCCCATCACGGTTAGTGAGG	0.612000														35			25		0	0	1	0	0
THG1L	54974	broad.mit.edu	37	5	157159948	157159948	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:157159948G>T	uc003lxd.3	+	1	390	c.264G>T	c.(262-264)caG>caT	p.Q88H	THG1L_uc011ddu.2_5'UTR	NM_017872	NP_060342	Q9NWX6	THG1_HUMAN	Homo sapiens tRNA-histidine guanylyltransferase 1-like (S. cerevisiae) (THG1L), mRNA.	88					protein homotetramerization|tRNA modification	mitochondrion	GTP binding|metal ion binding|tRNA guanylyltransferase activity	p.A87A(1)		NS(1)|central_nervous_system(2)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)	13	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AATGTGCGCAGACTGTGATGG	0.453000														102			16		1.15088e-07	1.32926e-07	1	1	0
BACH2	60468	broad.mit.edu	37	6	90660619	90660619	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:90660619C>T	uc011eab.2	-	6	2080	c.1206G>A	c.(1204-1206)gtG>gtA	p.V402V	BACH2_uc003pnw.3_Silent_p.V402V|BACH2_uc010kch.3_Silent_p.V402V	NM_021813	NP_068585	Q9BYV9	BACH2_HUMAN	Homo sapiens BTB and CNC homology 1, basic leucine zipper transcription factor 2 (BACH2), transcript variant 1, mRNA.	402						nucleus	protein dimerization activity|sequence-specific DNA binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		TGAAGTTGGACACCTCCTTCT	0.582000														24			16		0	0	1	0	0
SPIN1	10927	broad.mit.edu	37	9	91083495	91083495	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:91083495C>T	uc010mqj.3	+	4	1064	c.564C>T	c.(562-564)ggC>ggT	p.G188G	SPIN1_uc004apy.3_Silent_p.G188G|SPIN1_uc004apz.3_Silent_p.G188G|SPIN1_uc010mqk.3_Silent_p.G188G	NM_006717	NP_006708	Q9Y657	SPIN1_HUMAN	Homo sapiens spindlin 1 (SPIN1), mRNA.	188					cell cycle|gamete generation|multicellular organismal development	nucleus	methylated histone residue binding			endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	4						ACAAAGAAGGCGACCTTCGCA	0.378000														48			36		0	0	1	0	0
ALPK3	57538	broad.mit.edu	37	15	85406145	85406145	+	Splice_Site	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:85406145A>G	uc002ble.3	+	10	5183	c.5016_splice	c.e10+1	p.Q1672_splice	ALPK3_uc010upc.2_5'Flank	NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	Homo sapiens alpha-kinase 3 (ALPK3), mRNA.	1672	Alpha-type protein kinase.				heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GTCACCATCCAGGTACTATGT	0.557000														53			9		0	0	1	0	0
SBF1	6305	broad.mit.edu	37	22	50900823	50900823	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:50900823G>A	uc003blh.3	-	18	2402	c.2207C>T	c.(2206-2208)aCt>aTt	p.T736I	SBF1_uc011arx.2_Missense_Mutation_p.T400I|SBF1_uc003bli.2_Missense_Mutation_p.T737I	NM_002972	NP_002963	O95248	MTMR5_HUMAN	Homo sapiens SET binding factor 1 (SBF1), mRNA.	736					protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		ACGACTCAGAGTTGGCCACAA	0.627000														77			14		0	0	1	0	0
PPP2CB	5516	broad.mit.edu	37	8	30655186	30655186	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:30655186A>G	uc003xik.3	-	2	812	c.397T>C	c.(397-399)Tgt>Cgt	p.C133R		NM_001009552	NP_001009552	P62714	PP2AB_HUMAN	Homo sapiens protein phosphatase 2, catalytic subunit, beta isozyme (PPP2CB), mRNA.	133					protein dephosphorylation	chromosome, centromeric region|cytoplasm|nucleus|protein phosphatase type 2A complex|spindle pole	metal ion binding			breast(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	9				KIRC - Kidney renal clear cell carcinoma(542;0.095)|Kidney(114;0.114)	Vitamin E(DB00163)	TTTCGCAGACATTCATCATAA	0.378000														56			10		0	0	1	0	0
C6orf62	81688	broad.mit.edu	37	6	24714603	24714603	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:24714603G>A	uc003nel.3	-	2	879	c.372C>T	c.(370-372)atC>atT	p.I124I		NM_030939	NP_112201	Q9GZU0	CF062_HUMAN	Homo sapiens chromosome 6 open reading frame 62 (C6orf62), mRNA.	124						intracellular				endometrium(2)|kidney(3)|large_intestine(2)|lung(3)	10						GGAGACAGACGATTTTTTCAA	0.333000														66			50		0	0	1	0	0
CMYA5	202333	broad.mit.edu	37	5	79029268	79029268	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:79029268A>C	uc003kgc.3	+	1	4752	c.4680A>C	c.(4678-4680)aaA>aaC	p.K1560N		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	1560						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TAATCCCAAAAGGCAAAGATG	0.408000														64			48		0	0	1	0	0
PSMD1	5707	broad.mit.edu	37	2	231941835	231941835	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:231941835C>T	uc002vrn.2	+	8	1192	c.1030C>T	c.(1030-1032)Cga>Tga	p.R344*	PSMD1_uc002vrm.2_Nonsense_Mutation_p.R344*|PSMD1_uc010fxu.2_Nonsense_Mutation_p.R208*	NM_002807	NP_002798	Q99460	PSMD1_HUMAN	Homo sapiens proteasome (prosome, macropain) 26S subunit, non-ATPase, 1 (PSMD1), transcript variant 1, mRNA.	344					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding	p.R344Q(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)	31		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	Bortezomib(DB00188)	GTTCTTAATACGAAACAATAA	0.299000														40			5		0	0	1	0	0
FAM83C	128876	broad.mit.edu	37	20	33875125	33875125	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:33875125C>T	uc021wck.1	-	3	1575	c.1457G>A	c.(1456-1458)gGc>gAc	p.G486D	EIF6_uc002xbv.1_5'Flank|EIF6_uc002xbx.1_5'Flank|EIF6_uc002xbz.1_5'Flank|EIF6_uc002xby.1_5'Flank|FAM83C_uc002xcb.1_Missense_Mutation_p.G141D	NM_178468	NP_848563	Q9BQN1	FA83C_HUMAN	Homo sapiens family with sequence similarity 83, member C (FAM83C), mRNA.	486										central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			CAGGGTTGTGCCAGGTACCCA	0.632000														38			28		0	0	1	0	0
KRT6B	3854	broad.mit.edu	37	12	52844333	52844333	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:52844333C>A	uc001sak.3	-	1	660	c.612G>T	c.(610-612)aaG>aaT	p.K204N		NM_005555	NP_005546	P04259	K2C6B_HUMAN	Homo sapiens keratin 6B (KRT6B), mRNA.	204	Linker 1.|Rod.				ectoderm development	keratin filament	structural constituent of cytoskeleton			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40				BRCA - Breast invasive adenocarcinoma(357;0.083)		GCCTCACAGTCTTGGTGCCCT	0.577000														70			8		0.0477658	0.0485825	1	1	0
THBS3	7059	broad.mit.edu	37	1	155174654	155174654	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155174654T>G	uc001fix.3	-	3	743	c.638A>C	c.(637-639)cAc>cCc	p.H213P	THBS3_uc021pat.1_5'Flank|THBS3_uc010pfu.2_Intron|THBS3_uc009wqi.3_Missense_Mutation_p.H213P|THBS3_uc001fiy.3_Intron|THBS3_uc010pfv.2_Intron|THBS3_uc001fja.2_Non-coding_Transcript|THBS3_uc009wqj.1_Missense_Mutation_p.H175P	NM_007112	NP_009043	P49746	TSP3_HUMAN	Homo sapiens thrombospondin 3 (THBS3), transcript variant 1, mRNA.	213					cell-matrix adhesion	extracellular region|perinuclear region of cytoplasm	calcium ion binding|heparin binding|structural molecule activity			breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			ACCTGCACTGTGGATGGACTC	0.532000														113			9		0	0	1	0	0
ARHGEF10L	55160	broad.mit.edu	37	1	17961055	17961055	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:17961055C>T	uc001ban.3	+	16	1902	c.1743C>T	c.(1741-1743)caC>caT	p.H581H	ARHGEF10L_uc009vpe.1_Silent_p.H542H|ARHGEF10L_uc001bao.3_Silent_p.H542H|ARHGEF10L_uc001bap.3_Intron|ARHGEF10L_uc010ocr.1_Silent_p.H339H|ARHGEF10L_uc001baq.3_Intron|ARHGEF10L_uc010ocs.2_Intron|ARHGEF10L_uc001bar.3_Intron|ARHGEF10L_uc009vpf.3_Intron	NM_018125	NP_060595	Q9HCE6	ARGAL_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 10-like (ARHGEF10L), transcript variant 1, mRNA.	581					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		CTGCCAACCACAGGTACGTGG	0.617000														61			31		0	0	1	0	0
KIF21A	55605	broad.mit.edu	37	12	39725524	39725524	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:39725524G>A	uc001rly.3	-	21	3541	c.3121C>T	c.(3121-3123)Cta>Tta	p.L1041L	KIF21A_uc001rlv.3_Silent_p.L53L|KIF21A_uc001rlw.3_Silent_p.L358L|KIF21A_uc001rlx.3_Silent_p.L1028L|KIF21A_uc001rlz.3_Silent_p.L1005L|KIF21A_uc010skl.2_Silent_p.L1028L	NM_001173464	NP_001166935	Q7Z4S6	KI21A_HUMAN	Homo sapiens kinesin family member 21A (KIF21A), transcript variant 1, mRNA.	1041					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				AAGTGATCTAGCAGGTATCGG	0.368000														104			7		0	0	1	0	0
YSK4	80122	broad.mit.edu	37	2	135756467	135756467	+	Missense_Mutation	SNP	G	A	A	rs141899370	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:135756467G>A	uc002tue.1	-	4	446	c.415C>T	c.(415-417)Cgg>Tgg	p.R139W	YSK4_uc010fne.1_Missense_Mutation_p.R111W|YSK4_uc002tuf.1_Missense_Mutation_p.R139W|YSK4_uc010fnc.1_Missense_Mutation_p.R139W|YSK4_uc010fnd.1_Intron|YSK4_uc010zbg.1_Missense_Mutation_p.R139W|YSK4_uc002tui.4_Missense_Mutation_p.R156W	NM_025052	NP_079328	Q56UN5	YSK4_HUMAN	Homo sapiens YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae) (YSK4), transcript variant 1, mRNA.	139							ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(221;0.112)		ACTAAGGGCCGCATGGTCAGC	0.428000														40			28		0	0	1	0	0
PYGO2	90780	broad.mit.edu	37	1	154933454	154933454	+	Splice_Site	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:154933454T>C	uc001fft.3	-	2	359	c.153_splice	c.e2+1	p.Q51_splice		NM_138300	NP_612157	Q9BRQ0	PYGO2_HUMAN	Homo sapiens pygopus homolog 2 (Drosophila) (PYGO2), mRNA.	51	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding|zinc ion binding			endometrium(2)|large_intestine(2)|lung(3)|skin(2)|urinary_tract(1)	10	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			ACCATTCACCTGAGTATTTGA	0.502000														378			60		0	0	1	0	0
CXorf65	158830	broad.mit.edu	37	X	70325979	70325979	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:70325979C>T	uc011mpo.2	-	2	353	c.121G>A	c.(121-123)Gat>Aat	p.D41N	CXorf65_uc011mpp.2_5'UTR	NM_001025265	NP_001020436	A6NEN9	CX065_HUMAN	Homo sapiens chromosome X open reading frame 65 (CXorf65), transcript variant 1, mRNA.	41										breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)	10						TCACACAAATCGATGGTGTCT	0.473000														22			22		0	0	1	0	0
SLC2A12	154091	broad.mit.edu	37	6	134350472	134350472	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:134350472C>A	uc003qem.1	-	1	662	c.491G>T	c.(490-492)aGa>aTa	p.R164I		NM_145176	NP_660159	Q8TD20	GTR12_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 12 (SLC2A12), mRNA.	164						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity			NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	17	Breast(56;0.214)|Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123)		AAGAAGGCCTCTTCTGTGTTG	0.458000														73			14		1.5739e-10	1.90488e-10	1	1	0
TMEM53	79639	broad.mit.edu	37	1	45120599	45120599	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:45120599G>A	uc001cmc.3	-	2	502	c.466C>T	c.(466-468)Cgg>Tgg	p.R156W	TMEM53_uc001cmd.3_Missense_Mutation_p.R83W|TMEM53_uc009vxh.1_Missense_Mutation_p.R39W|TMEM53_uc010ola.1_Missense_Mutation_p.R39W	NM_024587	NP_078863	Q6P2H8	TMM53_HUMAN	Homo sapiens transmembrane protein 53 (TMEM53), mRNA.	156						integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(3)|ovary(2)|urinary_tract(1)	10	Acute lymphoblastic leukemia(166;0.155)					GCCAGGGCCCGCAGAGCCCCT	0.677000														10			8		0	0	1	0	0
C12orf10	60314	broad.mit.edu	37	12	53700890	53700890	+	Missense_Mutation	SNP	G	A	A	rs138116397	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:53700890G>A	uc001scp.4	+	6	1140	c.1088G>A	c.(1087-1089)cGt>cAt	p.R363H	C12orf10_uc009zmx.3_Missense_Mutation_p.R312H|C12orf10_uc001scq.4_Missense_Mutation_p.R248H	NM_021640	NP_067653	Q86UA3	Q86UA3_HUMAN	Homo sapiens chromosome 12 open reading frame 10 (C12orf10), mRNA.	363										cervix(1)|endometrium(3)|kidney(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	20						AGCATGGCCCGTGCCACCTTG	0.567000														69			6		0	0	1	0	0
MIB2	142678	broad.mit.edu	37	1	1560486	1560486	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:1560486C>T	uc001agg.3	+	5	1032	c.987C>T	c.(985-987)ggC>ggT	p.G329G	MIB2_uc001agh.3_Silent_p.G315G|MIB2_uc001agi.3_Silent_p.G329G|MIB2_uc001agj.3_Silent_p.G113G|MIB2_uc001agk.3_Intron|MIB2_uc001agl.2_Silent_p.G228G|MIB2_uc001agm.3_Intron|MIB2_uc010nyq.2_Silent_p.G228G|MIB2_uc009vkh.3_Silent_p.G113G|MIB2_uc001agn.3_5'UTR	NM_080875	NP_543151	Q96AX9	MIB2_HUMAN	Homo sapiens mindbomb homolog 2 (Drosophila) (MIB2), transcript variant 1, mRNA.	272					Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade	endosome	actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1)	18	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		ACCGTGTGGGCCACAAGGGCA	0.632000														45			29		0	0	1	0	0
CLMN	79789	broad.mit.edu	37	14	95670713	95670713	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:95670713C>T	uc001yef.2	-	8	1089	c.973G>A	c.(973-975)Gtc>Atc	p.V325I		NM_024734	NP_079010	Q96JQ2	CLMN_HUMAN	Homo sapiens calmin (calponin-like, transmembrane) (CLMN), mRNA.	325						integral to membrane	actin binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		AGAACGAAGACTTTGCTCTCC	0.433000														57			36		0	0	1	0	0
DNAL1	83544	broad.mit.edu	37	14	74153965	74153965	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:74153965G>A	uc001xoq.4	+	5	433	c.268G>A	c.(268-270)Gca>Aca	p.A90T	DNAL1_uc010aru.3_Missense_Mutation_p.A51T|DNAL1_uc010arv.3_Non-coding_Transcript	NM_031427	NP_001188295	Q4LDG9	DNAL1_HUMAN	Homo sapiens dynein, axonemal, light chain 1 (DNAL1), transcript variant 1, mRNA.	90										kidney(1)|lung(2)	3				BRCA - Breast invasive adenocarcinoma(234;0.00384)|KIRC - Kidney renal clear cell carcinoma(182;0.095)		TTTTCAGGAGGCAGTAGGGGA	0.323000														37			20		0	0	1	0	0
ZNF215	7762	broad.mit.edu	37	11	6964317	6964317	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6964317C>T	uc001mey.3	+	4	1075	c.487C>T	c.(487-489)Cca>Tca	p.P163S	ZNF215_uc010raw.2_Intron|ZNF215_uc010rax.2_Intron|ZNF215_uc001mez.1_Missense_Mutation_p.P163S	NM_013250	NP_037382	Q9UL58	ZN215_HUMAN	Homo sapiens zinc finger protein 215 (ZNF215), mRNA.	163					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4)	32				Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)		GTTTTAGGAACCAGTGACATT	0.428000														62			40		0	0	1	0	0
PRICKLE2	166336	broad.mit.edu	37	3	64085353	64085353	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:64085353C>T	uc003dmf.3	-	7	2495	c.1909G>A	c.(1909-1911)Gga>Aga	p.G637R		NM_198859	NP_942559	Q7Z3G6	PRIC2_HUMAN	Homo sapiens prickle homolog 2 (Drosophila) (PRICKLE2), mRNA.	637						cytoplasm|nuclear membrane	zinc ion binding			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		TGCATCCTTCCGTGGGACTGC	0.602000														45			30		0	0	1	0	0
SLC6A12	6539	broad.mit.edu	37	12	301737	301737	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:301737G>A	uc001qhz.3	-	15	2272	c.1608C>T	c.(1606-1608)taC>taT	p.Y536Y	SLC6A12_uc001qhy.3_Silent_p.Y92Y|SLC6A12_uc001qia.3_Silent_p.Y536Y|SLC6A12_uc001qib.3_Silent_p.Y536Y|SLC6A12_uc009zdh.2_Silent_p.Y536Y	NM_003044	NP_003035	P48065	S6A12_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, betaine/GABA), member 12 (SLC6A12), transcript variant 1, mRNA.	536					cellular nitrogen compound metabolic process|neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00227)			AGCCAATGGAGTATCCCCAGG	0.567000														44			23		0	0	1	0	0
NOXRED1	122945	broad.mit.edu	37	14	77872299	77872299	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:77872299C>A	uc001xtr.3	-	4	1029	c.862G>T	c.(862-864)Gat>Tat	p.D288Y		NM_001113475	NP_001106946	Q6NXP6	CN148_HUMAN	Homo sapiens NADP-dependent oxidoreductase domain containing 1 (NOXRED1), mRNA.	288					proline biosynthetic process		binding|pyrroline-5-carboxylate reductase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	9						CTGACAAAATCTGTTAATTGC	0.458000														33			15		0.000308642	0.000331285	1	1	0
ZSCAN22	342945	broad.mit.edu	37	19	58850499	58850499	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58850499G>T	uc002qsc.2	+	2	1430	c.1283G>T	c.(1282-1284)aGa>aTa	p.R428I	ZSCAN22_uc010yhz.1_3'UTR	NM_181846	NP_862829	P10073	ZSC22_HUMAN	Homo sapiens zinc finger and SCAN domain containing 22 (ZSCAN22), mRNA.	428					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|pancreas(1)|prostate(2)	16		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289)		CGACATCTGAGAATCCACTCT	0.572000														43			29		5.45727e-16	6.89772e-16	1	1	0
LRRC20	55222	broad.mit.edu	37	10	72100321	72100321	+	Missense_Mutation	SNP	T	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:72100321T>A	uc001jqx.1	-	2	442	c.220A>T	c.(220-222)Agt>Tgt	p.S74C	LRRC20_uc001jqy.1_Missense_Mutation_p.S74C|LRRC20_uc001jqz.1_Intron	NM_207119	NP_997002	Q8TCA0	LRC20_HUMAN	Homo sapiens leucine rich repeat containing 20 (LRRC20), transcript variant 1, mRNA.	74										endometrium(2)|large_intestine(4)|lung(2)|urinary_tract(1)	9						CGGAGCTGACTGAATGTGGTC	0.582000														27			17		0	0	1	0	0
IKBKAP	8518	broad.mit.edu	37	9	111651668	111651668	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:111651668G>A	uc004bdm.4	-	28	3686	c.3166C>T	c.(3166-3168)Ctg>Ttg	p.L1056L	IKBKAP_uc004bdl.3_Silent_p.L707L|IKBKAP_uc011lwc.2_Silent_p.L942L|IKBKAP_uc010mtq.3_Silent_p.L707L|IKBKAP_uc004bdk.3_Silent_p.L60L|IKBKAP_uc010mtp.3_Non-coding_Transcript	NM_003640	NP_003631	O95163	ELP1_HUMAN	Homo sapiens inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein (IKBKAP), mRNA.	1056					immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	DNA-directed RNA polymerase II, holoenzyme|cytoplasm|nucleolus|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding|signal transducer activity	p.L1056L(1)		NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						TGCTCAACCAGCTTTCCTGTA	0.413000														98			7		0	0	1	0	0
DGCR14	8220	broad.mit.edu	37	22	19122584	19122584	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:19122584C>T	uc002zou.3	-	8	1177	c.1140G>A	c.(1138-1140)gaG>gaA	p.E380E		NM_022719	NP_073210	Q96DF8	DGC14_HUMAN	Homo sapiens DiGeorge syndrome critical region gene 14 (DGCR14), mRNA.	380					nervous system development	catalytic step 2 spliceosome				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	16	Colorectal(54;0.0993)					TGGCCAGATTCTCCGTCACTC	0.682000														70			7		0	0	1	0	0
IQSEC3	440073	broad.mit.edu	37	12	272684	272684	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:272684C>A	uc001qhw.2	+	8	2608	c.2608C>A	c.(2608-2610)Ctg>Atg	p.L870M	IQSEC3_uc001qhu.1_Missense_Mutation_p.L567M	NM_001170738	NP_001164209	Q9UPP2	IQEC3_HUMAN	Homo sapiens IQ motif and Sec7 domain 3 (IQSEC3), transcript variant 1, mRNA.	870	PH.				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		CCACCGCCGCCTGGTGTGCTG	0.657000														36			29		4.43304e-23	5.7703e-23	1	1	0
UPP1	7378	broad.mit.edu	37	7	48139382	48139382	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:48139382A>C	uc003toj.3	+	4	689	c.160A>C	c.(160-162)Aag>Cag	p.K54Q	UPP1_uc003tok.3_Missense_Mutation_p.K54Q|UPP1_uc003tol.3_Missense_Mutation_p.K54Q|UPP1_uc011kcg.1_Missense_Mutation_p.K54Q|UPP1_uc011kch.2_Intron|UPP1_uc003ton.3_Intron	NM_181597	NP_853628	Q16831	UPP1_HUMAN	Homo sapiens uridine phosphorylase 1 (UPP1), transcript variant 2, mRNA.	54					nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage	cytosol	uridine phosphorylase activity			breast(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	18						TGGAGATGTGAAGGTAAGAGG	0.403000														233			15		0	0	1	0	0
SH3RF3	344558	broad.mit.edu	37	2	110065843	110065843	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:110065843C>A	uc010ywt.1	+	7	2046	c.2046C>A	c.(2044-2046)gcC>gcA	p.A682A		NM_001099289	NP_001092759	Q8TEJ3	SH3R3_HUMAN	Homo sapiens SH3 domain containing ring finger 3 (SH3RF3), mRNA.	682							zinc ion binding			endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2)	18						ACGTCAGTGCCGCAAACCTCA	0.627000														12			9		1.12685e-05	1.25391e-05	1	1	0
ZNF433	163059	broad.mit.edu	37	19	12126905	12126905	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:12126905A>C	uc002msy.1	-	3	948	c.777T>G	c.(775-777)tgT>tgG	p.C259W	AX747405_uc002msx.1_Intron|ZNF433_uc002msz.1_Missense_Mutation_p.C224W	NM_001080411	NP_001073880	Q8N7K0	ZN433_HUMAN	Homo sapiens zinc finger protein 433 (ZNF433), mRNA.	259					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|skin(1)	14						ATGCTTTCCCACATTCATTAC	0.408000														58			4		0	0	1	0	0
ZNF547	284306	broad.mit.edu	37	19	57888834	57888834	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:57888834G>T	uc002qol.3	+	3	695	c.490G>T	c.(490-492)Gcc>Tcc	p.A164S		NM_173631	NP_775902	Q8IVP9	ZN547_HUMAN	Homo sapiens zinc finger protein 547 (ZNF547), mRNA.	164					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	12		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		ATGTGGGAAAGCCTTTAGCCA	0.428000														29			3		6.4e-05	6.99953e-05	1	1	0
ZNF25	219749	broad.mit.edu	37	10	38241496	38241496	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:38241496T>C	uc001ize.1	-	5	1035	c.930A>G	c.(928-930)ggA>ggG	p.G310G	ZNF25_uc001izf.1_Silent_p.G274G	NM_145011	NP_659448	P17030	ZNF25_HUMAN	Homo sapiens zinc finger protein 25 (ZNF25), mRNA.	310					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_neural(218;0.0218)|Breast(68;0.0389)|Ovarian(717;0.0443)|Renal(717;0.157)				AGGGTTTCTCTCCTGTGTGAC	0.433000														25			8		0	0	1	0	0
USP7	7874	broad.mit.edu	37	16	8998370	8998370	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:8998370C>A	uc002czl.2	-	14	1825	c.1626G>T	c.(1624-1626)gaG>gaT	p.E542D	USP7_uc010uyk.1_Missense_Mutation_p.E443D|USP7_uc010uyj.1_Missense_Mutation_p.E443D|USP7_uc002czk.2_Missense_Mutation_p.E526D|USP7_uc010uyl.1_Non-coding_Transcript	NM_003470	NP_003461	Q93009	UBP7_HUMAN	Homo sapiens ubiquitin specific peptidase 7 (herpes virus-associated) (USP7), mRNA.	542					interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	PML body|cytoplasm	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						CTTGTAATCGCTCCACCAACT	0.547000														31			37		1.67305e-13	2.08265e-13	1	1	0
ARID3C	138715	broad.mit.edu	37	9	34622473	34622473	+	Nonsense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:34622473C>A	uc011lon.2	-	4	919	c.919G>T	c.(919-921)Gga>Tga	p.G307*	DCTN3_uc003zuw.1_5'Flank|DCTN3_uc003zux.1_5'Flank	NM_001017363	NP_001017363	A6NKF2	ARI3C_HUMAN	Homo sapiens AT rich interactive domain 3C (BRIGHT-like) (ARID3C), mRNA.	307	Pro-rich.|REKLES.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	14	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.175)		CGTGTAGGTCCCAGTGCCAGG	0.577000														48			7		5.18039e-06	5.80246e-06	1	1	0
ACTN2	88	broad.mit.edu	37	1	236881218	236881218	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:236881218G>A	uc001hyf.2	+	1	391	c.187G>A	c.(187-189)Gag>Aag	p.E63K	ACTN2_uc001hyg.2_5'UTR|ACTN2_uc009xgi.1_Missense_Mutation_p.E63K	NM_001103	NP_001094	P35609	ACTN2_HUMAN	Homo sapiens actinin, alpha 2 (ACTN2), mRNA.	63	Actin-binding.|CH 1.				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	Z disc|actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium	FATZ 1 binding|ZASP binding|actin binding|calcium ion binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin Z domain binding|titin binding			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			TGAGAACATCGAGGAAGACTT	0.468000														13			9		0	0	1	0	0
SLC3A1	6519	broad.mit.edu	37	2	44528205	44528205	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:44528205G>A	uc002ruc.4	+	5	1153	c.1075G>A	c.(1075-1077)Gac>Aac	p.D359N	SLC3A1_uc002rty.3_Missense_Mutation_p.D359N|SLC3A1_uc002rtz.2_Missense_Mutation_p.D359N|SLC3A1_uc002rua.3_Missense_Mutation_p.D359N|SLC3A1_uc002rub.2_Missense_Mutation_p.D359N|SLC3A1_uc002rud.4_Missense_Mutation_p.D81N|SLC3A1_uc002rue.4_5'Flank	NM_000341	NP_000332	Q07837	SLC31_HUMAN	Homo sapiens solute carrier family 3 (cystine, dibasic and neutral amino acid transporters, activator of cystine, dibasic and neutral amino acid transport), member 1 (SLC3A1), mRNA.	359					carbohydrate metabolic process|cellular amino acid metabolic process|ion transport	integral to plasma membrane|membrane fraction	L-cystine transmembrane transporter activity|basic amino acid transmembrane transporter activity|catalytic activity|cation binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3)	26		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)			L-Cystine(DB00138)	GGGAATGCACGACATTGTCCG	0.532000														14			16		0	0	1	0	0
KDR	3791	broad.mit.edu	37	4	55968162	55968162	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:55968162G>A	uc003has.3	-	14	2470	c.2168C>T	c.(2167-2169)aCt>aTt	p.T723I	KDR_uc003hat.1_Missense_Mutation_p.T723I	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Homo sapiens kinase insert domain receptor (a type III receptor tyrosine kinase) (KDR), mRNA.	723	Ig-like C2-type 7.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|Hsp90 protein binding|growth factor binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	TCTGCGGATAGTGAGGTTCCG	0.448000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)				61			31		0	0	1	0	0
PRAMEF11	440560	broad.mit.edu	37	1	12887615	12887615	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:12887615G>A	uc001auk.2	-	2	438	c.242C>T	c.(241-243)gCc>gTc	p.A81V		NM_001146344	NP_001139816	O60813	PRA11_HUMAN	Homo sapiens PRAME family member 11 (PRAMEF11), mRNA.	81										NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						GCACCCATGGGCCATAGCTTC	0.483000														133			88		0	0	1	0	0
ZIC5	85416	broad.mit.edu	37	13	100617819	100617819	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:100617819C>T	uc001vom.1	-	1	2053	c.1804G>A	c.(1804-1806)Gtg>Atg	p.V602M		NM_033132	NP_149123	Q96T25	ZIC5_HUMAN	Homo sapiens Zic family member 5 (ZIC5), mRNA.	602					cell differentiation	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(1)|lung(2)|prostate(1)|skin(2)	9	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GGGTCCAGCACAGGGGACAAG	0.617000														54			28		0	0	1	0	0
CPEB1	64506	broad.mit.edu	37	15	83296017	83296017	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:83296017T>C	uc002bit.3	-	1	434	c.297A>G	c.(295-297)atA>atG	p.I99M	CPEB1_uc002biu.3_Missense_Mutation_p.I66M|CPEB1_uc010uof.2_5'UTR|CPEB1_uc002biv.3_Missense_Mutation_p.I39M	NM_001079533	NP_001073001	Q9BZB8	CPEB1_HUMAN	Homo sapiens cytoplasmic polyadenylation element binding protein 1 (CPEB1), transcript variant 2, mRNA.	39					mRNA processing|regulation of translation	cell junction|cytoplasmic mRNA processing body|dendrite|postsynaptic density|postsynaptic membrane	RNA binding|nucleotide binding			breast(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(1)|skin(1)	28			BRCA - Breast invasive adenocarcinoma(143;0.229)			AATTATCCAATATGGCATTTA	0.408000														84			5		0	0	1	0	0
RASSF2	9770	broad.mit.edu	37	20	4776463	4776463	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:4776463C>T	uc002wld.3	-	3	339	c.285G>A	c.(283-285)caG>caA	p.Q95Q	RASSF2_uc002wlc.3_5'Flank|RASSF2_uc002wlf.3_Silent_p.Q95Q	NM_170774	NP_739580	P50749	RASF2_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) domain family member 2 (RASSF2), transcript variant 2, mRNA.	95					cell cycle|signal transduction	nucleus	protein binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2)	34						TCACTCACCCCTGAGCCCCCA	0.592000														63			38		0	0	1	0	0
ATM	472	broad.mit.edu	37	11	108165730	108165730	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:108165730G>A	uc001pkb.1	+	31	5238	c.4853G>A	c.(4852-4854)cGa>cAa	p.R1618Q	ATM_uc009yxr.1_Missense_Mutation_p.R1618Q|ATM_uc001pke.2_Missense_Mutation_p.R270Q|ATM_uc001pkf.3_3'UTR|ATM_uc001pkg.1_5'Flank	NM_000051	NP_000042	Q13315	ATM_HUMAN	Homo sapiens ataxia telangiectasia mutated (ATM), mRNA.	1618					DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2/M transition DNA damage checkpoint|cell cycle arrest|cellular response to gamma radiation|double-strand break repair via homologous recombination|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein N-terminus binding|protein complex binding|protein dimerization activity	p.E1612_Q1620>*(2)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		AAGGATCTTCGAAGACAACTG	0.358000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)				66			49		0	0	1	0	0
DKC1	1736	broad.mit.edu	37	X	153994250	153994250	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153994250G>T	uc004fmm.3	+	3	450	c.240G>T	c.(238-240)aaG>aaT	p.K80N	DKC1_uc010nvf.3_Missense_Mutation_p.K80N|SNORA36A_uc004fmn.3_5'Flank	NM_001363	NP_001354	O60832	DKC1_HUMAN	Homo sapiens dyskeratosis congenita 1, dyskerin (DKC1), transcript variant 1, mRNA.	80					cell proliferation|pseudouridine synthesis|rRNA processing|telomere maintenance via telomerase	Cajal body|nucleolus|telomerase holoenzyme complex	RNA binding|protein binding|pseudouridine synthase activity|telomerase activity			breast(2)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)	15	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					ATCCTCTGAAGAGAGAGATTG	0.398000									Congenital Dyskeratosis					68			31		8.16721e-17	1.03702e-16	1	1	0
DDX52	11056	broad.mit.edu	37	17	35986132	35986132	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:35986132A>G	uc002hoi.2	-	7	989	c.945T>C	c.(943-945)ctT>ctC	p.L315L	DDX52_uc002hoh.2_Silent_p.L207L	NM_007010	NP_008941	Q9Y2R4	DDX52_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 52 (DDX52), mRNA.	315	Helicase ATP-binding.					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			biliary_tract(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|ovary(1)|skin(3)	17		Breast(25;0.00637)|Ovarian(249;0.15)				CGTCTACTACAAGCCACTCAA	0.443000														32			4		0	0	1	0	0
HLA-DMB	3109	broad.mit.edu	37	6	32903412	32903412	+	Missense_Mutation	SNP	T	C	C	rs35339338		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:32903412T>C	uc003ocl.2	-	3	903	c.640A>G	c.(640-642)Atg>Gtg	p.M214V	HLA-DMB_uc003ock.2_Non-coding_Transcript|HLA-DMB_uc010jud.2_Missense_Mutation_p.M83V|HLA-DMB_uc010jue.2_Intron|HLA-DMB_uc010juf.2_Intron|HLA-DMB_uc003ocj.2_3'UTR	NM_002118	NP_002109	P28068	DMB_HUMAN	Homo sapiens major histocompatibility complex, class II, DM beta (HLA-DMB), mRNA.	214	Connecting peptide (Potential).				T cell costimulation|T cell receptor signaling pathway|antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway	MHC class II protein complex|integral to membrane|late endosome membrane|lysosomal membrane				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						AGGGTCTGCATGGGGGACAGC	0.537000														27			17		0	0	1	0	0
ITPR3	3710	broad.mit.edu	37	6	33635017	33635017	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:33635017C>A	uc021ywr.1	+	14	1887	c.1663C>A	c.(1663-1665)Ctg>Atg	p.L555M		NM_002224	NP_002215	Q14573	ITPR3_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 3 (ITPR3), mRNA.	555					G-protein coupled receptor protein signaling pathway|activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						CATGTTCCGCCTGTGCTACCG	0.647000														17			10		7.48243e-07	8.52591e-07	1	1	0
NRD1	4898	broad.mit.edu	37	1	52289367	52289367	+	Silent	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:52289367A>C	uc001ctc.4	-	8	1654	c.1332T>G	c.(1330-1332)tcT>tcG	p.S444S	NRD1_uc009vzb.3_Silent_p.S139S|NRD1_uc001cte.3_Silent_p.S312S|NRD1_uc001ctd.4_Silent_p.S376S|NRD1_uc001ctf.2_Silent_p.S376S|NRD1_uc010ong.1_Non-coding_Transcript|NRD1_uc009vzc.1_Silent_p.S244S	NM_002525	NP_001229290	O43847	NRDC_HUMAN	Homo sapiens nardilysin (N-arginine dibasic convertase) (NRD1), transcript variant 1, mRNA.	375					cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding	p.S443C(1)		NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						TCATGTAATGAGAAGAGTAGT	0.368000														95			5		0	0	1	0	0
PNPLA7	375775	broad.mit.edu	37	9	140355145	140355145	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:140355145C>T	uc010ncj.1	-	33	4223	c.3886G>A	c.(3886-3888)Gtc>Atc	p.V1296I	PNPLA7_uc004cnd.1_Missense_Mutation_p.V518I|PNPLA7_uc004cne.1_Missense_Mutation_p.V537I|PNPLA7_uc011mfa.1_Missense_Mutation_p.V679I|PNPLA7_uc004cnf.2_Missense_Mutation_p.V1271I|NELF_uc011mey.2_5'Flank|NELF_uc004cna.3_5'Flank|NELF_uc004cnb.3_5'Flank|NELF_uc004cmz.3_5'Flank|NELF_uc011mez.2_5'Flank|NELF_uc004cnc.3_5'Flank|NELF_uc022bqi.1_5'Flank	NM_001098537	NP_001092007	Q6ZV29	PLPL7_HUMAN	Homo sapiens patatin-like phospholipase domain containing 7 (PNPLA7), transcript variant 1, mRNA.	1271					lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		TCCCTGGGGACGTCCAGCAGC	0.632000														43			4		0	0	1	0	0
SEC24B	10427	broad.mit.edu	37	4	110431221	110431221	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:110431221C>T	uc003hzk.3	+	7	1785	c.1730C>T	c.(1729-1731)gCt>gTt	p.A577V	SEC24B_uc003hzl.3_Missense_Mutation_p.A542V|SEC24B_uc011cfp.2_Missense_Mutation_p.A607V|SEC24B_uc011cfq.2_Missense_Mutation_p.A576V|SEC24B_uc011cfr.2_Missense_Mutation_p.A541V	NM_006323	NP_006314	O95487	SC24B_HUMAN	Homo sapiens SEC24 family, member B (S. cerevisiae) (SEC24B), transcript variant 1, mRNA.	577					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|Golgi membrane|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding			breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		CTGAATAAAGCTAAGCTTCCT	0.343000														24			13		0	0	1	0	0
PARD3B	117583	broad.mit.edu	37	2	205983694	205983694	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:205983694C>T	uc002var.2	+	6	937	c.730C>T	c.(730-732)Cgg>Tgg	p.R244W	PARD3B_uc010fub.2_Missense_Mutation_p.R244W|PARD3B_uc002vao.2_Missense_Mutation_p.R244W|PARD3B_uc002vap.2_Missense_Mutation_p.R244W|PARD3B_uc002vaq.2_Missense_Mutation_p.R244W	NM_205863	NP_689739	Q8TEW8	PAR3L_HUMAN	Homo sapiens par-3 partitioning defective 3 homolog B (C. elegans) (PARD3B), mRNA.	244	PDZ 1.				cell cycle|cell division	endomembrane system|tight junction				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		CAGGTCCAAGCGGGAGGGACT	0.333000														45			27		0	0	1	0	0
SVIL	6840	broad.mit.edu	37	10	29801769	29801769	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:29801769G>A	uc001iut.1	-	16	4164	c.3411C>T	c.(3409-3411)agC>agT	p.S1137S	SVIL_uc010qdw.1_Silent_p.S35S|SVIL_uc001iuu.1_Silent_p.S711S	NM_021738	NP_068506	O95425	SVIL_HUMAN	Homo sapiens supervillin (SVIL), transcript variant 2, mRNA.	1137					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				CTTCCTCCCCGCTTTTCTTCA	0.552000											OREG0020097	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		47			38		0	0	1	0	0
CCDC66	285331	broad.mit.edu	37	3	56651180	56651180	+	Missense_Mutation	SNP	T	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:56651180T>A	uc003dhz.3	+	13	1971	c.1884T>A	c.(1882-1884)caT>caA	p.H628Q	CCDC66_uc003dhy.3_Missense_Mutation_p.H264Q|CCDC66_uc003dhu.3_Missense_Mutation_p.H594Q|CCDC66_uc003dhx.3_Non-coding_Transcript|CCDC66_uc003dia.3_5'UTR	NM_001141947	NP_001135419	A2RUB6	CCD66_HUMAN	Homo sapiens coiled-coil domain containing 66 (CCDC66), transcript variant 1, mRNA.	628										breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)		CAGAATCACATTGTGGATCAT	0.299000														30			14		0	0	1	0	0
CCDC112	153733	broad.mit.edu	37	5	114604589	114604589	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:114604589T>C	uc003kqz.2	-	8	1755	c.1537A>G	c.(1537-1539)Atc>Gtc	p.I513V	CCDC112_uc003kqy.2_Missense_Mutation_p.I430V|CCDC112_uc003kra.2_Missense_Mutation_p.I481V	NM_001040440	NP_689762	Q8NEF3	CC112_HUMAN	Homo sapiens coiled-coil domain containing 112 (CCDC112), transcript variant 1, mRNA.	430										endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|skin(1)	20		all_cancers(142;0.000523)|all_epithelial(76;6.44e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;4.09e-08)|Epithelial(69;5.28e-08)|all cancers(49;7.06e-06)		CTATGTGGGATATGTAGAAGT	0.353000														68			7		0	0	1	0	0
PRKAB1	5564	broad.mit.edu	37	12	120106187	120106187	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:120106187C>A	uc009zwu.3	+	1	241	c.138C>A	c.(136-138)ctC>ctA	p.L46L	PRKAB1_uc001txg.3_Silent_p.L46L	NM_006253	NP_006244	Q9Y478	AAKB1_HUMAN	Homo sapiens protein kinase, AMP-activated, beta 1 non-catalytic subunit (PRKAB1), mRNA.	46					cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid oxidation	cytosol				endometrium(2)|large_intestine(3)|lung(5)	10	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.166)	Adenosine monophosphate(DB00131)|Metformin(DB00331)	ACGCCGACCTCTTCCACTCCG	0.612000														19			4		0.150653	0.152248	1	1	0
HDGFRP2	84717	broad.mit.edu	37	19	4499514	4499514	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:4499514C>T	uc002mao.3	+	13	1695	c.1602C>T	c.(1600-1602)gaC>gaT	p.D534D	HDGFRP2_uc002map.3_Silent_p.D534D|HDGFRP2_uc010dtz.1_Non-coding_Transcript|HDGFRP2_uc002maq.1_5'UTR|HDGFRP2_uc010dua.3_5'UTR	NM_001001520	NP_001001520	Q7Z4V5	HDGR2_HUMAN	Homo sapiens hepatoma-derived growth factor-related protein 2 (HDGFRP2), transcript variant 1, mRNA.	534					transcription, DNA-dependent	nucleus	DNA binding|protein binding										CGAACAAGGACGTAATGGAGA	0.602000														7			9		0	0	1	0	0
TMEM237	65062	broad.mit.edu	37	2	202494502	202494502	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:202494502C>T	uc021vvg.1	-	7	728	c.627G>A	c.(625-627)aaG>aaA	p.K209K	TMEM237_uc021vvd.1_Silent_p.K4K|TMEM237_uc021vve.1_Silent_p.K201K|TMEM237_uc021vvf.1_Silent_p.K4K|TMEM237_uc010zho.1_Silent_p.K4K|TMEM237_uc010zhp.1_Non-coding_Transcript	NM_001044385	NP_001037850	Q96Q45	TM237_HUMAN	Homo sapiens transmembrane protein 237 (TMEM237), transcript variant 1, mRNA.	233						integral to membrane	protein binding	p.K209R(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(3)	7						TCCAGGAAGGCTTCACGTCCA	0.433000														53			24		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140347359	140347359	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140347359G>T	uc003lii.3	+	0	1613	c.1008G>T	c.(1006-1008)caG>caT	p.Q336H	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lif.2_Intron|PCDHAC2_uc003lie.1_Intron|PCDHAC2_uc003lih.2_Intron|PCDHAC2_uc011dag.2_Missense_Mutation_p.Q336H	NM_018899	NP_061722	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha subfamily C, 2 (PCDHAC2), transcript variant 1, mRNA.	336	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)			TCTATGTGCAGGCGACTGACC	0.592000														20			4		1.23904e-05	1.3743e-05	1	1	0
LMO7	4008	broad.mit.edu	37	13	76427474	76427474	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:76427474G>A	uc021rkq.1	+	27	4946	c.4611G>A	c.(4609-4611)ccG>ccA	p.P1537P	LMO7_uc010thv.2_Silent_p.P1255P|LMO7_uc001vjv.3_Silent_p.P1304P|LMO7_uc010thw.2_Silent_p.P1181P	NM_005358	NP_005349	Q8WWI1	LMO7_HUMAN	Homo sapiens LIM domain 7 (LMO7), transcript variant 1, mRNA.	1589						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		CCCCCACCCCGAGAAGCCATT	0.577000														15			10		0	0	1	0	0
PLXNA2	5362	broad.mit.edu	37	1	208215490	208215490	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:208215490G>A	uc001hgz.3	-	21	4997	c.4239C>T	c.(4237-4239)atC>atT	p.I1413I		NM_025179	NP_079455	O75051	PLXA2_HUMAN	Homo sapiens plexin A2 (PLXNA2), mRNA.	1413					axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		GGTTCTTATCGATGAGGTCAG	0.612000														31			36		0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100683337	100683337	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100683337G>A	uc003uxp.1	+	2	8693	c.8640G>A	c.(8638-8640)ccG>ccA	p.P2880P	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	2880	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.P2880P(2)|p.P2880Q(1)		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)					GCACCACGCCGGTGGCCAGTT	0.488000														372			35		0	0	1	0	0
FASN	2194	broad.mit.edu	37	17	80045228	80045228	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:80045228G>A	uc002kdu.3	-	19	3313	c.3196C>T	c.(3196-3198)Ctg>Ttg	p.L1066L	FASN_uc002kdw.1_Silent_p.L282L	NM_004104	NP_004095	P49327	FAS_HUMAN	Homo sapiens fatty acid synthase (FASN), mRNA.	1066					energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	Golgi apparatus|cytosol|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	AGTGTGTACAGCTTCTGCCTG	0.662000														29			6		0	0	1	0	0
CCDC82	79780	broad.mit.edu	37	11	96092318	96092318	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:96092318C>T	uc001pfx.4	-	8	1619	c.1405G>A	c.(1405-1407)Gcc>Acc	p.A469T	CCDC82_uc009ywp.3_Missense_Mutation_p.A469T|CCDC82_uc009ywr.3_Missense_Mutation_p.A469T	NM_024725	NP_079001	Q8N4S0	CCD82_HUMAN	Homo sapiens coiled-coil domain containing 82 (CCDC82), mRNA.	469							protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.154)		GTACGGCTGGCACAAATTCTG	0.328000														31			12		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179456584	179456584	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179456584C>A	uc021vsy.1	-	251	52483	c.52258G>T	c.(52258-52260)Gat>Tat	p.D17420Y	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.D11115Y|TTN_uc021vta.1_Missense_Mutation_p.D11048Y|TTN_uc021vtb.1_Missense_Mutation_p.D10923Y	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	18347	Fibronectin type-III 26.						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)			TTGTCAACATCTACATGGTGC	0.413000														35			20		1.96292e-10	2.36921e-10	1	1	0
RBM19	9904	broad.mit.edu	37	12	114383697	114383697	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:114383697G>A	uc009zwi.2	-	12	1706	c.1562C>T	c.(1561-1563)cCg>cTg	p.P521L	RBM19_uc001tvn.4_Missense_Mutation_p.P521L|RBM19_uc001tvm.3_Missense_Mutation_p.P521L	NM_001146699	NP_057280	Q9Y4C8	RBM19_HUMAN	Homo sapiens RNA binding motif protein 19 (RBM19), transcript variant 1, mRNA.	521					multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	RNA binding|nucleotide binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					CACGGCATTCGGCCCCATGAA	0.562000														16			14		0	0	1	0	0
abParts	0	broad.mit.edu	37	22	22550413	22550413	+	RNA	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:22550413G>A	uc021wml.1	+	14		c.1224G>A								Parts of antibodies, mostly variable regions.																		ACTCTGTGTCGGAGTCTCCGG	0.577000											OREG0026353	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		9			4		0	0	1	0	0
SMYD4	114826	broad.mit.edu	37	17	1703452	1703452	+	Silent	SNP	G	A	A	rs139637633	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:1703452G>A	uc002ftm.4	-	4	1404	c.1236C>T	c.(1234-1236)tgC>tgT	p.C412C	SMYD4_uc002ftn.1_Silent_p.C267C	NM_052928	NP_443160	Q8IYR2	SMYD4_HUMAN	Homo sapiens SET and MYND domain containing 4 (SMYD4), mRNA.	412							zinc ion binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(5)|stomach(1)	21						CATTAATATCGCATCCAGGAA	0.418000														143			10		0	0	1	0	0
LTBP3	4054	broad.mit.edu	37	11	65320346	65320346	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:65320346G>A	uc001oej.3	-	5	1440	c.1171C>T	c.(1171-1173)Cgt>Tgt	p.R391C	LTBP3_uc010roi.2_Missense_Mutation_p.R274C|LTBP3_uc001oei.3_Missense_Mutation_p.R391C|LTBP3_uc010roj.2_Intron|LTBP3_uc010rok.1_Missense_Mutation_p.R302C|U7_uc021qll.1_5'Flank	NM_001130144	NP_001123616	Q9NS15	LTBP3_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 3 (LTBP3), transcript variant 1, mRNA.	391	EGF-like 2; calcium-binding (Potential).					extracellular region	calcium ion binding|growth factor binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						CACTGTGTACGGGAGGGGCCT	0.602000														47			4		0	0	1	0	0
GRWD1	83743	broad.mit.edu	37	19	48955977	48955977	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:48955977G>A	uc002pjd.2	+	6	1269	c.1036G>A	c.(1036-1038)Gtg>Atg	p.V346M	KCNJ14_uc002pje.1_5'Flank	NM_031485	NP_113673	Q9BQ67	GRWD1_HUMAN	Homo sapiens glutamate-rich WD repeat containing 1 (GRWD1), mRNA.	346						nucleolus				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|stomach(1)	19		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000206)|all cancers(93;0.000207)|Epithelial(262;0.0125)|GBM - Glioblastoma multiforme(486;0.0222)		TGGTTCCCCAGTGGCCACCTT	0.647000														48			22		0	0	1	0	0
MAP2K6	5608	broad.mit.edu	37	17	67537834	67537834	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:67537834C>A	uc002jij.3	+	11	1233	c.945C>A	c.(943-945)acC>acA	p.T315T		NM_002758	NP_002749	P52564	MP2K6_HUMAN	Homo sapiens mitogen-activated protein kinase kinase 6 (MAP2K6), mRNA.	315					DNA damage induced protein phosphorylation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|cell cycle arrest|innate immune response|muscle cell differentiation|positive regulation of muscle cell differentiation|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	20	Breast(10;6.05e-10)					CATTTTTCACCCTACATGAAT	0.358000														74			6		0.00116845	0.00123466	1	1	0
OGN	4969	broad.mit.edu	37	9	95155416	95155416	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:95155416G>A	uc011ltx.2	-	3	533	c.433C>T	c.(433-435)Cga>Tga	p.R145*	CENPP_uc004arz.3_Intron|CENPP_uc010mqx.3_Intron|OGN_uc004asa.3_Nonsense_Mutation_p.R127*|OGN_uc004asb.3_Nonsense_Mutation_p.R127*	NM_033014	NP_148935	P20774	MIME_HUMAN	Homo sapiens osteoglycin (OGN), transcript variant 1, mRNA.	127						extracellular space|proteinaceous extracellular matrix	growth factor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	13						TTGTTGAATCGTGCGTAAAGA	0.358000														39			6		0	0	1	0	0
KHDC1	80759	broad.mit.edu	37	6	73951801	73951801	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:73951801T>C	uc003pgo.3	-	3	992	c.491A>G	c.(490-492)cAg>cGg	p.Q164R	KHDC1_uc011dyl.1_Non-coding_Transcript|KHDC1_uc003pgn.4_Missense_Mutation_p.Q91R	NM_001251874	NP_001238803	Q4VXA5	KHDC1_HUMAN	Homo sapiens KH homology domain containing 1 (KHDC1), transcript variant 1, mRNA.	164						integral to membrane	RNA binding			large_intestine(1)|lung(4)|skin(1)	6						ATAGGAGTCCTGGCTCCCCAC	0.517000														13			8		0	0	1	0	0
CTNS	1497	broad.mit.edu	37	17	3560041	3560041	+	Silent	SNP	C	T	T	rs150428029		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:3560041C>T	uc002fwa.3	+	8	1103	c.633C>T	c.(631-633)caC>caT	p.H211H	CTNS_uc002fwb.3_Silent_p.H211H|CTNS_uc010ckj.3_Silent_p.H211H|CTNS_uc010vrv.2_Silent_p.H64H|CTNS_uc010vrw.2_Silent_p.H103H	NM_001031681	NP_001026851	O60931	CTNS_HUMAN	Homo sapiens cystinosin, lysosomal cystine transporter (CTNS), transcript variant 1, mRNA.	211					ATP metabolic process|brain development|cognition|glutathione metabolic process	integral to membrane|late endosome|lysosomal membrane	L-cystine transmembrane transporter activity			NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)	10				COAD - Colon adenocarcinoma(5;0.0829)	L-Cystine(DB00138)	TCAGCCTGCACGCGGTTGTCC	0.612000														38			20		0	0	1	0	0
ATP1A3	478	broad.mit.edu	37	19	42489540	42489540	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:42489540G>T	uc002osh.3	-	6	796	c.642C>A	c.(640-642)ccC>ccA	p.P214P	ATP1A3_uc010xwf.2_Silent_p.P225P|ATP1A3_uc010xwg.2_Silent_p.P184P|ATP1A3_uc002osg.3_Silent_p.P214P|ATP1A3_uc010xwh.2_Silent_p.P227P			P13637	AT1A3_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 3 polypeptide (ATP1A3), transcript variant 1, mRNA.	214					ATP biosynthetic process	Golgi apparatus|endoplasmic reticulum	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	p.E213*(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						AGCGAGTCTGGGGCTCGGATT	0.592000														48			17		1.01871e-10	1.23424e-10	1	1	0
ABCA13	154664	broad.mit.edu	37	7	48312581	48312581	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:48312581C>T	uc003toq.2	+	16	3342	c.3318C>T	c.(3316-3318)caC>caT	p.H1106H	ABCA13_uc010kyr.2_Silent_p.H609H|ABCA13_uc022acp.1_5'Flank	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	1106					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						ACAATAAACACATTTCTTCCG	0.318000														36			21		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61835998	61835998	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:61835998A>G	uc001jky.3	-	36	4979	c.4641T>C	c.(4639-4641)tcT>tcC	p.S1547S	ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	1547	Ser-rich.				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						ATTTGATTGGAGAAGGTGTCG	0.448000														129			16		0	0	1	0	0
TRIM17	51127	broad.mit.edu	37	1	228602720	228602720	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:228602720G>T	uc001hsu.3	-	1	439	c.54C>A	c.(52-54)atC>atA	p.I18I	TRIM17_uc001hsv.3_Silent_p.I18I|TRIM17_uc009xfb.2_Silent_p.I18I	NM_016102	NP_057186	Q9Y577	TRI17_HUMAN	Homo sapiens tripartite motif containing 17 (TRIM17), transcript variant 1, mRNA.	18					protein autoubiquitination	intracellular	protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	10		Prostate(94;0.0724)				AATCCAGACAGATGGAGCACG	0.587000														14			17		6.94344e-10	8.32448e-10	1	1	0
PIGC	5279	broad.mit.edu	37	1	172411395	172411395	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:172411395G>A	uc021pey.1	-	0	368	c.368C>T	c.(367-369)gCc>gTc	p.A123V	PIGC_uc001gii.1_Intron|C1orf105_uc001gik.3_Intron|PIGC_uc001gin.3_Missense_Mutation_p.A123V|PIGC_uc001gio.3_Missense_Mutation_p.A123V	NM_153747	NP_714969	Q92535	PIGC_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class C (PIGC), transcript variant 1, mRNA.	123					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity			breast(1)|endometrium(1)|kidney(1)|lung(1)	4						GAAGACTAGGGCACTCTTCAG	0.488000														27			8		0	0	1	0	0
PLAU	5328	broad.mit.edu	37	10	75672800	75672800	+	Nonsense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:75672800C>A	uc001jwa.3	+	4	458	c.312C>A	c.(310-312)taC>taA	p.Y104*	C10orf55_uc001jvz.2_Splice_Site|PLAU_uc010qkw.2_Nonsense_Mutation_p.Y87*|PLAU_uc010qkx.2_Nonsense_Mutation_p.Y18*|PLAU_uc001jwb.3_Non-coding_Transcript|PLAU_uc001jwc.3_Nonsense_Mutation_p.Y104*|PLAU_uc009xrq.1_Nonsense_Mutation_p.Y68*	NM_002658	NP_002649	P00749	UROK_HUMAN	Homo sapiens plasminogen activator, urokinase (PLAU), transcript variant 1, mRNA.	104	Kringle.				blood coagulation|chemotaxis|fibrinolysis|proteolysis|regulation of cell adhesion mediated by integrin|regulation of receptor activity|regulation of smooth muscle cell migration|regulation of smooth muscle cell-matrix adhesion|signal transduction	cell surface|extracellular space|plasma membrane	serine-type endopeptidase activity			cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(3)|ovary(2)	16	Prostate(51;0.0112)				Amiloride(DB00594)|Urokinase(DB00013)	AGCAAACGTACCATGCCCACA	0.567000														25			21		3.5997e-14	4.50316e-14	1	1	0
UQCRH	7388	broad.mit.edu	37	1	46774775	46774775	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:46774775G>T	uc001cpp.3	+	1	116	c.57G>T	c.(55-57)gaG>gaT	p.E19D	UQCRH_uc001cpq.3_Non-coding_Transcript	NM_006004	NP_005995	P07919	QCR6_HUMAN	Homo sapiens ubiquinol-cytochrome c reductase hinge protein (UQCRH), nuclear gene encoding mitochondrial protein, mRNA.	19	Poly-Glu.				aerobic respiration|mitochondrial electron transport, ubiquinol to cytochrome c		ubiquinol-cytochrome-c reductase activity			large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	4	Acute lymphoblastic leukemia(166;0.155)					TTTTGTAGGAGGAAGAGGAAG	0.358000														30			22		2.89027e-11	3.52362e-11	1	1	0
RBMXL1	494115	broad.mit.edu	37	1	89449270	89449270	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:89449270C>A	uc021opo.1	-	0	240	c.240G>T	c.(238-240)aaG>aaT	p.K80N	CCBL2_uc001dmp.2_Intron|CCBL2_uc001dmq.2_Intron|CCBL2_uc001dmr.2_Intron|RBMXL1_uc009wcx.3_Missense_Mutation_p.K80N|RBMXL1_uc001dms.3_Missense_Mutation_p.K80N	NM_019610	NP_062556	Q96E39	RBMXL_HUMAN	Homo sapiens RNA binding motif protein, X-linked-like 1 (RBMXL1), transcript variant 2, mRNA.	80	RRM.						RNA binding|nucleotide binding										CTTGTTCCACCTTGATGGCTT	0.478000											OREG0013593	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		141			44		2.35958e-20	3.04623e-20	1	1	0
SPTBN2	6712	broad.mit.edu	37	11	66466163	66466163	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:66466163C>T	uc001ojd.3	-	18	4033	c.3961G>A	c.(3961-3963)Gca>Aca	p.A1321T		NM_006946	NP_008877	O15020	SPTN2_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 2 (SPTBN2), mRNA.	1321					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						GCCATGAATGCCTGGTGCTTC	0.597000														50			26		0	0	1	0	0
ITGB8	3696	broad.mit.edu	37	7	20403300	20403300	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:20403300C>A	uc003suu.3	+	1	873	c.168C>A	c.(166-168)gcC>gcA	p.A56A	ITGB8_uc011jyh.2_5'UTR|ITGB8_uc003sut.3_Silent_p.A56A	NM_002214	NP_002205	P26012	ITB8_HUMAN	Homo sapiens integrin, beta 8 (ITGB8), mRNA.	56					cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity	p.A56T(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						CATCCTGTGCCAGGTGCCTTG	0.393000														29			3		0.004672	0.00486265	1	1	0
KSR2	283455	broad.mit.edu	37	12	117962776	117962776	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:117962776G>A	uc001two.2	-	13	2068	c.2013C>T	c.(2011-2013)aaC>aaT	p.N671N		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA.	700	Protein kinase.				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCTGGTCCTCGTTGTCCCTCT	0.607000														12			13		0	0	1	0	0
JAKMIP1	152789	broad.mit.edu	37	4	6066610	6066610	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:6066610G>A	uc010idb.1	-	8	1914	c.1428C>T	c.(1426-1428)gaC>gaT	p.D476D	JAKMIP1_uc010idc.1_Silent_p.D291D|JAKMIP1_uc010idd.1_Silent_p.D476D|JAKMIP1_uc003giu.4_Silent_p.D476D|JAKMIP1_uc011bwc.2_Silent_p.D311D|JAKMIP1_uc003giv.4_Silent_p.D476D|JAKMIP1_uc010ide.3_Silent_p.D476D	NM_001099433	NP_001092903	Q96N16	JKIP1_HUMAN	Homo sapiens janus kinase and microtubule interacting protein 1 (JAKMIP1), transcript variant 1, mRNA.	476	Mediates interaction with TYK2 and GABBR1.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TGCTTACATCGTCCAAGTCTT	0.547000														19			19		0	0	1	0	0
ZKSCAN2	342357	broad.mit.edu	37	16	25258460	25258460	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:25258460C>T	uc002dod.4	-	4	1464	c.1057G>A	c.(1057-1059)Gca>Aca	p.A353T	ZKSCAN2_uc010vcl.2_Missense_Mutation_p.A149T|ZKSCAN2_uc002doe.2_Missense_Mutation_p.A353T	NM_001012981	NP_001012999	Q63HK3	ZKSC2_HUMAN	Homo sapiens zinc finger with KRAB and SCAN domains 2 (ZKSCAN2), mRNA.	353					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		TTGAGAATTGCCAGGAAAGTC	0.468000														59			34		0	0	1	0	0
ACTL6B	51412	broad.mit.edu	37	7	100244418	100244418	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100244418C>T	uc003uvy.3	-	10	1080	c.973G>A	c.(973-975)Gtg>Atg	p.V325M	ACTL6B_uc003uvz.3_Non-coding_Transcript	NM_016188	NP_057272	O94805	ACL6B_HUMAN	Homo sapiens actin-like 6B (ACTL6B), mRNA.	325					chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	SWI/SNF complex|nBAF complex	ATP binding|protein binding|structural constituent of cytoskeleton			endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					GTGGTCACCACGTGGCCCACA	0.652000														41			9		0	0	1	0	0
ZNRF3	84133	broad.mit.edu	37	22	29446342	29446342	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:29446342G>A	uc003aeg.3	+	7	2173	c.2173G>A	c.(2173-2175)Gcc>Acc	p.A725T	ZNRF3_uc021wnq.1_Missense_Mutation_p.A625T	NM_001206998	NP_001193927	Q9ULT6	ZNRF3_HUMAN	Homo sapiens zinc and ring finger 3 (ZNRF3), transcript variant 1, mRNA.	725						integral to membrane	zinc ion binding	p.A625P(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						CGGGCCTAGCGCCGGAGCAGC	0.726000														16			4		0	0	1	0	0
CATSPERD	257062	broad.mit.edu	37	19	5754220	5754220	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:5754220G>A	uc002mda.3	+	12	1303	c.1242G>A	c.(1240-1242)tcG>tcA	p.S414S	CATSPERD_uc010duj.1_Silent_p.S72S	NM_152784	NP_689997	Q86XM0	TM146_HUMAN	Homo sapiens transmembrane protein 146 (TMEM146), mRNA.	414						integral to membrane											TGACTGCTTCGTTGATACCCC	0.453000														86			65		0	0	1	0	0
MYBPC1	4604	broad.mit.edu	37	12	102036200	102036200	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:102036200G>T	uc001tii.3	+	8	734	c.594G>T	c.(592-594)gaG>gaT	p.E198D	MYBPC1_uc001tif.2_Missense_Mutation_p.E211D|MYBPC1_uc001tig.3_Missense_Mutation_p.E223D|MYBPC1_uc010svr.2_Missense_Mutation_p.E198D|MYBPC1_uc010svs.2_Missense_Mutation_p.E198D|MYBPC1_uc001tij.3_Missense_Mutation_p.E198D|MYBPC1_uc010svt.2_Missense_Mutation_p.E186D|MYBPC1_uc010svu.2_Missense_Mutation_p.E179D|MYBPC1_uc001tik.3_Missense_Mutation_p.E172D|MYBPC1_uc001tih.3_Missense_Mutation_p.E223D|MYBPC1_uc010svq.2_Missense_Mutation_p.E185D	NM_206820	NP_996556	Q00872	MYPC1_HUMAN	Homo sapiens myosin binding protein C, slow type (MYBPC1), transcript variant 3, mRNA.	198					cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						CGGTTAGGGAGGTGAAGCAGC	0.498000														22			8		0.00621372	0.00645399	1	1	0
ATP1A1	476	broad.mit.edu	37	1	116931303	116931303	+	Missense_Mutation	SNP	C	T	T	rs139745455		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:116931303C>T	uc001ege.3	+	5	884	c.545C>T	c.(544-546)gCg>gTg	p.A182V	ATP1A1_uc010owv.1_Missense_Mutation_p.A151V|ATP1A1_uc010oww.2_Missense_Mutation_p.A182V|ATP1A1_uc010owx.2_Missense_Mutation_p.A151V	NM_000701	NP_001153706	P05023	AT1A1_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 1 polypeptide (ATP1A1), transcript variant 1, mRNA.	182					ATP biosynthetic process	melanosome|sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity			NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021)	AGCATAAATGCGGAGGAAGTT	0.438000														71			43		0	0	1	0	0
STAG3	10734	broad.mit.edu	37	7	99800141	99800141	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:99800141G>A	uc003utx.1	+	24	2783	c.2628G>A	c.(2626-2628)ggG>ggA	p.G876G	STAG3_uc011kjk.1_Silent_p.G818G|GATS_uc010lgt.3_Non-coding_Transcript|GATS_uc003uty.4_Non-coding_Transcript|GATS_uc003utz.4_Non-coding_Transcript|GATS_uc003uua.4_3'UTR|STAG3_uc003uub.1_Silent_p.G100G	NM_012447	NP_036579	Q9UJ98	STAG3_HUMAN	Homo sapiens stromal antigen 3 (STAG3), mRNA.	876					chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TCCTAGCCGGGTTCTGCAAGC	0.512000														116			137		0	0	1	0	0
LIG4	3981	broad.mit.edu	37	13	108862336	108862336	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:108862336C>A	uc001vqn.3	-	1	1554	c.1281G>T	c.(1279-1281)gaG>gaT	p.E427D	LIG4_uc001vqo.3_Missense_Mutation_p.E427D|LIG4_uc010agf.3_Missense_Mutation_p.E427D|LIG4_uc001vqp.3_Missense_Mutation_p.E427D|LIG4_uc010agg.1_Missense_Mutation_p.E360D|LIG4_uc021rmk.1_Missense_Mutation_p.E427D	NM_002312	NP_996820	P49917	DNLI4_HUMAN	Homo sapiens ligase IV, DNA, ATP-dependent (LIG4), transcript variant 1, mRNA.	427					DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|T cell differentiation in thymus|T cell receptor V(D)J recombination|cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to X-ray|response to gamma radiation|single strand break repair|somatic stem cell maintenance	DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|condensed chromosome|cytoplasm|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					CCATAATTCCCTCTTCTCTTT	0.363000								Non-homologous end-joining						173			19		3.57192e-18	4.57256e-18	1	1	0
IL3RA	3563	broad.mit.edu	37	X	1484094	1484094	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:1484094C>T	uc004cps.3	+	8	1172	c.823C>T	c.(823-825)Cgg>Tgg	p.R275W	CRLF2_uc022brt.1_Intron|IL3RA_uc011mhd.2_Missense_Mutation_p.R197W	NM_002183	NP_002174	P26951	IL3RA_HUMAN	Homo sapiens interleukin 3 receptor, alpha (low affinity) (IL3RA), mRNA.	275						integral to membrane|plasma membrane	interleukin-3 receptor activity	p.R275R(1)		lung(1)|skin(2)	3		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	AATAAGAGCCCGGGAAAGAGT	0.572000														35			21		0	0	1	0	0
SIL1	64374	broad.mit.edu	37	5	138362650	138362650	+	Missense_Mutation	SNP	C	T	T	rs138300781		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:138362650C>T	uc003ldo.3	-	6	691	c.485G>A	c.(484-486)cGc>cAc	p.R162H	SIL1_uc003ldp.3_Missense_Mutation_p.R162H|SIL1_uc003ldq.1_Intron	NM_001037633	NP_071909	Q9H173	SIL1_HUMAN	Homo sapiens SIL1 homolog, endoplasmic reticulum chaperone (S. cerevisiae) (SIL1), transcript variant 1, mRNA.	162	Interaction with HSPA5 and localization to the endoplasmic reticulum (By similarity).				intracellular protein transport|protein folding|transmembrane transport	endoplasmic reticulum lumen	unfolded protein binding	p.R162C(1)		endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			CTCAATGGGGCGGAAGAGCCG	0.473000									Marinesco-Sjgren syndrome					20			15		0	0	1	0	0
CNTN4	152330	broad.mit.edu	37	3	3078900	3078900	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:3078900C>T	uc003bpc.3	+	17	2319	c.1980C>T	c.(1978-1980)acC>acT	p.T660T	CNTN4_uc003bpb.1_Silent_p.T331T|CNTN4_uc021wsg.1_Silent_p.T660T|CNTN4_uc003bpd.1_Silent_p.T660T|CNTN4_uc003bpe.3_Silent_p.T332T|CNTN4_uc003bpf.3_Silent_p.T331T|CNTN4_uc003bpg.3_5'Flank	NM_175607	NP_783302	Q8IWV2	CNTN4_HUMAN	Homo sapiens contactin 4 (CNTN4), transcript variant 1, mRNA.	660	Fibronectin type-III 1.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		TCACAGCGACCGTGGTGGGTT	0.498000														108			80		0	0	1	0	0
GLB1L2	89944	broad.mit.edu	37	11	134226222	134226222	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:134226222G>A	uc001qhp.3	+	5	774	c.586G>A	c.(586-588)Gtg>Atg	p.V196M	GLB1L2_uc009zdg.1_Non-coding_Transcript	NM_138342	NP_612351	Q8IW92	GLBL2_HUMAN	Homo sapiens galactosidase, beta 1-like 2 (GLB1L2), mRNA.	196					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)		TATCATTGCCGTGCAGGTGGA	0.488000														227			12		0	0	1	0	0
DDX21	9188	broad.mit.edu	37	10	70738645	70738645	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:70738645T>C	uc001jov.1	+	12	2040	c.1950T>C	c.(1948-1950)atT>atC	p.I650I	DDX21_uc001jow.1_Silent_p.I582I	NM_004728	NP_004719	Q9NR30	DDX21_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 21 (DDX21), mRNA.	650						nucleolus	ATP binding|ATP-dependent RNA helicase activity|RNA binding|protein binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	20						TGCCAAATATTAGTTATGCTT	0.383000														86			11		0	0	1	0	0
HAX1	10456	broad.mit.edu	37	1	154247708	154247708	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:154247708C>T	uc010peo.2	+	4	820	c.659C>T	c.(658-660)tCt>tTt	p.S220F	HAX1_uc001fet.3_Missense_Mutation_p.S164F|HAX1_uc001fes.3_Missense_Mutation_p.S212F|HAX1_uc009wou.3_Missense_Mutation_p.S137F	NM_006118	NP_006109	O00165	HAX1_HUMAN	Homo sapiens HCLS1 associated protein X-1 (HAX1), transcript variant 1, mRNA.	212	Involved in ATP2A2 binding.|Involved in GNA13 binding.|Involved in HCLS1 binding.|Involved in PKD2 binding.|Involved in PLN binding.|Required for localization in sarcoplasmic reticulum (By similarity).					actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction	interleukin-1 binding|protein N-terminus binding			cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			AAGAGCATCTCTGTGACCAAG	0.488000									Kostmann syndrome					42			34		0	0	1	0	0
C11orf16	56673	broad.mit.edu	37	11	8951035	8951035	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:8951035C>T	uc001mhb.4	-	2	337	c.213G>A	c.(211-213)tgG>tgA	p.W71*	C11orf16_uc001mhc.4_Nonsense_Mutation_p.W71*	NM_020643	NP_065694	Q9NQ32	CK016_HUMAN	Homo sapiens chromosome 11 open reading frame 16 (C11orf16), mRNA.	71										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	22				Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234)		CAGGCCCCTGCCATGCTGGGT	0.527000														27			4		0	0	1	0	0
PTPN11	5781	broad.mit.edu	37	12	112926872	112926872	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:112926872C>T	uc001ttx.3	+	12	1872	c.1492C>T	c.(1492-1494)Cgg>Tgg	p.R498W		NM_002834	NP_002825	Q06124	PTN11_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 11 (PTPN11), mRNA.	502	Tyrosine-protein phosphatase.				T cell costimulation|axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytosol	non-membrane spanning protein tyrosine phosphatase activity|protein binding			NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						CCAGATGGTGCGGTCTCAGAG	0.458000			Mis		"""JMML, AML, MDS"""		Noonan Syndrome		Noonan syndrome					107			60		0	0	1	0	0
KCNK10	54207	broad.mit.edu	37	14	88729675	88729675	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:88729675G>A	uc001xwm.3	-	1	395	c.273C>T	c.(271-273)ggC>ggT	p.G91G	KCNK10_uc001xwn.3_Silent_p.G91G|KCNK10_uc001xwo.3_Silent_p.G86G	NM_138318	NP_612191	P57789	KCNKA_HUMAN	Homo sapiens potassium channel, subfamily K, member 10 (KCNK10), transcript variant 3, mRNA.	86					signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity	p.R91W(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						AGACAAGACCGCCAGTGACAA	0.562000														40			34		0	0	1	0	0
NLRX1	79671	broad.mit.edu	37	11	119053929	119053929	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:119053929G>A	uc001pvu.3	+	9	2924	c.2709G>A	c.(2707-2709)ggG>ggA	p.G903G	NLRX1_uc001pvv.3_Intron|NLRX1_uc001pvw.3_Silent_p.G903G|NLRX1_uc001pvx.3_Silent_p.G903G|PDZD3_uc001pvz.3_5'Flank|PDZD3_uc010rzd.2_5'Flank|PDZD3_uc001pvy.3_5'Flank|PDZD3_uc001pwa.3_5'Flank|PDZD3_uc001pwb.3_5'Flank	NM_024618	NP_078894	Q86UT6	NLRX1_HUMAN	Homo sapiens NLR family member X1 (NLRX1), transcript variant 1, mRNA.	903	Required for the repression of MAVS- induced interferon signaling.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		TGACAGAGGGGACGGCGGTGT	0.602000														39			14		0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113191537	113191537	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:113191537G>A	uc010mtz.3	-	34	6030	c.5693C>T	c.(5692-5694)cCt>cTt	p.P1898L	SVEP1_uc010mty.3_5'UTR	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	1898	Sushi 8.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TTCACACACAGGAGGGGAATG	0.378000														4			3		0	0	1	0	0
ZNF385A	25946	broad.mit.edu	37	12	54765377	54765377	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:54765377C>T	uc001sfy.3	-	4	599	c.544G>A	c.(544-546)Gcc>Acc	p.A182T	ZNF385A_uc009zno.1_Non-coding_Transcript|ZNF385A_uc001sfw.1_Missense_Mutation_p.A162T|ZNF385A_uc010sov.1_Intron|ZNF385A_uc001sfx.1_Missense_Mutation_p.A162T|ZNF385A_uc001sfz.3_Intron	NM_001130967	NP_001124439	Q96PM9	Z385A_HUMAN	Homo sapiens zinc finger protein 385A (ZNF385A), transcript variant 1, mRNA.	162					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|urinary_tract(1)	15						GAAGCCGGGGCTGGAGTCCCC	0.627000														50			42		0	0	1	0	0
C5orf4	10826	broad.mit.edu	37	5	154200010	154200010	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:154200010G>A	uc003lvs.4	-	8	1039	c.868C>T	c.(868-870)Ctg>Ttg	p.L290L	C5orf4_uc011dde.2_Silent_p.L267L	NM_032385	NP_115761	Q96IV6	CE004_HUMAN	Homo sapiens chromosome 5 open reading frame 4 (C5orf4), mRNA.	290					fatty acid biosynthetic process	integral to membrane	iron ion binding|oxidoreductase activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)	14	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			AGCACACCCAGCACCCCATAG	0.577000														39			22		0	0	1	0	0
CHD7	55636	broad.mit.edu	37	8	61654159	61654159	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:61654159T>C	uc003xue.3	+	1	660	c.168T>C	c.(166-168)caT>caC	p.H56H	CHD7_uc022aux.1_Silent_p.H56H	NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 7 (CHD7), mRNA.	56					T cell differentiation|central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|chromatin binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			CCCTTCATCATCCTTCAACTA	0.413000														17			4		0	0	1	0	0
ARHGEF10	9639	broad.mit.edu	37	8	1882009	1882009	+	Silent	SNP	C	T	T	rs146918202		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:1882009C>T	uc003wpr.3	+	25	3301	c.3123C>T	c.(3121-3123)ggC>ggT	p.G1041G	ARHGEF10_uc003wps.3_Silent_p.G1003G|ARHGEF10_uc010lre.3_Silent_p.G692G	NM_014629	NP_055444	O15013	ARHGA_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 10 (ARHGEF10), mRNA.	1066					centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	Rho guanyl-nucleotide exchange factor activity|kinesin binding			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		TCAAGTTAGGCGTCCTACCAG	0.438000														99			12		0	0	1	0	0
DBF4	10926	broad.mit.edu	37	7	87536520	87536520	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:87536520G>T	uc003ujf.1	+	11	1571	c.1067G>T	c.(1066-1068)gGa>gTa	p.G356V	DBF4_uc003ujh.1_Missense_Mutation_p.G96V|DBF4_uc003ujg.1_Missense_Mutation_p.G132V|DBF4_uc011khf.1_Missense_Mutation_p.G123V	NM_006716	NP_006707	Q9UBU7	DBF4A_HUMAN	Homo sapiens DBF4 homolog (S. cerevisiae) (DBF4), mRNA.	356					DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|cell cycle checkpoint	nucleoplasm	enzyme activator activity|nucleic acid binding|protein binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|skin(3)	28	Esophageal squamous(14;0.00202)	Breast(660;0.0334)				TACAGTGTTGGATCCCTTTCT	0.299000														67			20		2.4624e-09	2.92908e-09	1	1	0
EIF4G3	8672	broad.mit.edu	37	1	21191064	21191064	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:21191064C>T	uc001bec.3	-	16	2999	c.2743G>A	c.(2743-2745)Gtg>Atg	p.V915M	EIF4G3_uc010odi.2_Missense_Mutation_p.V519M|EIF4G3_uc010odj.2_Missense_Mutation_p.V914M|EIF4G3_uc009vpz.3_Missense_Mutation_p.V635M|EIF4G3_uc001bef.3_Missense_Mutation_p.V951M|EIF4G3_uc001bee.3_Missense_Mutation_p.V921M	NM_003760	NP_003751	O43432	IF4G3_HUMAN	Homo sapiens eukaryotic translation initiation factor 4 gamma, 3 (EIF4G3), transcript variant 3, mRNA.	915	MIF4G.|eIF3/EIF4A-binding (By similarity).				RNA metabolic process|interspecies interaction between organisms|regulation of translational initiation	eukaryotic translation initiation factor 4F complex	RNA cap binding|protein binding|translation initiation factor activity			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		AGCAGCTTCACCACACAGTCA	0.458000														146			14		0	0	1	0	0
IGSF9B	22997	broad.mit.edu	37	11	133799568	133799568	+	Silent	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:133799568A>C	uc001qgx.4	-	11	1860	c.1629T>G	c.(1627-1629)gtT>gtG	p.V543V	IGSF9B_uc001qgy.1_Silent_p.V385V	NM_014987	NP_055802	Q9UPX0	TUTLB_HUMAN	Homo sapiens immunoglobulin superfamily, member 9B (IGSF9B), mRNA.	543	Fibronectin type-III 1.					integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		GTCCGTACCAAACTGAGAATG	0.622000														28			18		0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75039105	75039105	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:75039105C>T	uc001dgg.3	-	13	2508	c.2289G>A	c.(2287-2289)gtG>gtA	p.V763V		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	763	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						ACGTTTTTTGCACCAATTGCT	0.423000														86			8		0	0	1	0	0
ANXA3	306	broad.mit.edu	37	4	79522708	79522708	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:79522708C>T	uc003hld.3	+	10	1085	c.775C>T	c.(775-777)Cat>Tat	p.H259Y		NM_005139	NP_005130	P12429	ANXA3_HUMAN	Homo sapiens annexin A3 (ANXA3), mRNA.	259					defense response to bacterium|neutrophil degranulation|phagocytosis|positive regulation of angiogenesis|positive regulation of endothelial cell migration|positive regulation of sequence-specific DNA binding transcription factor activity	phagocytic vesicle membrane|plasma membrane|specific granule	calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						CGAAAGACTGCATCGAGCCTT	0.383000														38			20		0	0	1	0	0
FTH1	2495	broad.mit.edu	37	11	61734852	61734852	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:61734852C>T	uc001nsu.3	-	0	281	c.46G>A	c.(46-48)Gac>Aac	p.D16N		NM_002032	NP_002023	P02794	FRIH_HUMAN	Homo sapiens ferritin, heavy polypeptide 1 (FTH1), mRNA.	16	Ferritin-like diiron.				cell proliferation|cellular membrane organization|immune response|intracellular sequestering of iron ion|iron ion transport|negative regulation of cell proliferation|post-Golgi vesicle-mediated transport	cytosol|intracellular ferritin complex	ferric iron binding|ferroxidase activity|protein binding	p.D16Y(2)		NS(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8					Iron Dextran(DB00893)	GCCTCTGAGTCCTGGTGGTAG	0.697000														5			8		0	0	1	0	0
CDRT1	374286	broad.mit.edu	37	17	15510968	15510968	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:15510968C>T	uc002gor.1	-	11	2419	c.2082G>A	c.(2080-2082)caG>caA	p.Q694Q	CDRT1_uc002gov.4_Silent_p.Q384Q|CDRT1_uc002gou.2_5'UTR			O95170	CDRT1_HUMAN	Homo sapiens tripartite motif containing 16 (TRIM16), mRNA.	384										endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(2;1.36e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0541)		TTTCCTCGTTCTGGTATGCAG	0.473000														14			14		0	0	1	0	0
SERTM1	400120	broad.mit.edu	37	13	37269260	37269260	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:37269260G>T	uc001uvt.4	+	1	491	c.45G>T	c.(43-45)gaG>gaT	p.E15D	SERTM1_uc021rii.1_Missense_Mutation_p.E15D	NM_203451	NP_982276	A2A2V5	CM036_HUMAN	Homo sapiens serine-rich and transmembrane domain containing 1 (SERTM1), mRNA.	15						integral to membrane											GAAGTGTGGAGAATGGAACTT	0.473000														56			40		3.66854e-30	4.83968e-30	1	1	0
GPAA1	8733	broad.mit.edu	37	8	145139388	145139388	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:145139388C>T	uc003zax.3	+	6	996	c.886C>T	c.(886-888)Cgg>Tgg	p.R296W	GPAA1_uc003zav.1_Missense_Mutation_p.R174W|GPAA1_uc003zaw.1_Missense_Mutation_p.R236W	NM_003801	NP_003792	O43292	GPAA1_HUMAN	Homo sapiens glycosylphosphatidylinositol anchor attachment protein 1 homolog (yeast) (GPAA1), mRNA.	296					C-terminal protein lipidation|attachment of GPI anchor to protein|protein complex assembly|protein retention in ER lumen	GPI-anchor transamidase complex	tubulin binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(2)	19	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-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;3.38e-41)|Epithelial(56;6.02e-40)|all cancers(56;2.11e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CATGGTTCTGCGGCAGGCCTC	0.627000														24			10		0	0	1	0	0
DACH2	117154	broad.mit.edu	37	X	85403938	85403938	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:85403938G>A	uc004eew.2	+	0	484	c.314G>A	c.(313-315)gGc>gAc	p.G105D	DACH2_uc004eex.2_Missense_Mutation_p.G105D|DACH2_uc010nmq.2_5'UTR	NM_053281	NP_001132987	Q96NX9	DACH2_HUMAN	Homo sapiens dachshund homolog 2 (Drosophila) (DACH2), transcript variant 1, mRNA.	105	DACHbox-N.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding			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						CTGGTGGGAGGCTTGCACACT	0.572000														53			21		0	0	1	0	0
ZNF772	400720	broad.mit.edu	37	19	57988041	57988041	+	Splice_Site	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:57988041C>A	uc002qot.3	-	2	295	c.34_splice	c.e2-1	p.V12_splice	ZNF772_uc010ygy.2_Splice_Site_p.V12_splice|ZNF772_uc010ygz.2_Splice_Site|ZNF772_uc010yha.2_Intron|ZNF772_uc002qou.3_Intron	NM_001024596	NP_001019767	Q68DY9	ZN772_HUMAN	Homo sapiens zinc finger protein 772 (ZNF772), transcript variant 1, mRNA.	12					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(4)|lung(3)	9		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)|Lung(386;0.174)		TCATGGGAACCTGTGGGGAAG	0.527000														19			11		0.000151284	0.000164177	1	1	0
THOP1	7064	broad.mit.edu	37	19	2794857	2794857	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:2794857G>A	uc002lwj.3	+	2	480	c.325G>A	c.(325-327)Gac>Aac	p.D109N	THOP1_uc010xgz.2_5'Flank	NM_003249	NP_003240	P52888	THOP1_HUMAN	Homo sapiens thimet oligopeptidase 1 (THOP1), mRNA.	109					proteolysis	cytoplasm	metal ion binding|metalloendopeptidase activity|protein binding	p.D109N(2)		NS(1)|central_nervous_system(1)|endometrium(1)|lung(8)|ovary(2)|skin(1)	14				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCTGAGTTCGACGTGGAGAT	0.567000														58			32		0	0	1	0	0
TBCD	6904	broad.mit.edu	37	17	80739561	80739561	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:80739561G>T	uc002kfy.1	+	6	865	c.735G>T	c.(733-735)caG>caT	p.Q245H	TBCD_uc002kfx.1_Missense_Mutation_p.Q228H|TBCD_uc002kfz.3_Missense_Mutation_p.Q245H	NM_005993	NP_005984	Q9BTW9	TBCD_HUMAN	Homo sapiens tubulin folding cofactor D (TBCD), mRNA.	245					'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	GTPase activator activity|beta-tubulin binding|chaperone binding					Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			AGACCATGCAGGGGGTCATCA	0.592000											OREG0024827	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		59			6		0.0293803	0.0299714	1	1	0
MRPS31	10240	broad.mit.edu	37	13	41323302	41323302	+	Silent	SNP	T	C	C	rs142931494	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:41323302T>C	uc001uxm.4	-	5	1005	c.930A>G	c.(928-930)ctA>ctG	p.L310L		NM_005830	NP_005821	Q92665	RT31_HUMAN	Homo sapiens mitochondrial ribosomal protein S31 (MRPS31), nuclear gene encoding mitochondrial protein, mRNA.	310						mitochondrion|ribosome	protein domain specific binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	13		Lung NSC(96;3.55e-06)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;1.52e-08)|Epithelial(112;7.63e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000192)|GBM - Glioblastoma multiforme(144;0.00233)|BRCA - Breast invasive adenocarcinoma(63;0.0706)		GGAACTCCCATAGTTTCCCCT	0.378000														94			46		0	0	1	0	0
LRP4	4038	broad.mit.edu	37	11	46903448	46903448	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:46903448C>T	uc001ndn.4	-	19	2862	c.2619G>A	c.(2617-2619)atG>atA	p.M873I		NM_002334	NP_002325	O75096	LRP4_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 4 (LRP4), mRNA.	873					Wnt receptor signaling pathway|endocytosis|negative regulation of canonical Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		CAGTCCAATACATGTACCTGG	0.512000														40			5		0	0	1	0	0
MED15	51586	broad.mit.edu	37	22	20909246	20909246	+	Missense_Mutation	SNP	C	A	A	rs145726043		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:20909246C>A	uc002zsp.3	+	4	342	c.262C>A	c.(262-264)Ctg>Atg	p.L88M	MED15_uc002zsn.1_Missense_Mutation_p.L7M|MED15_uc002zso.2_Intron|MED15_uc002zsq.3_Missense_Mutation_p.L88M|MED15_uc010gso.3_Missense_Mutation_p.L88M|MED15_uc002zsr.3_Missense_Mutation_p.L62M|MED15_uc011ahs.2_Missense_Mutation_p.L62M|MED15_uc011aht.1_Missense_Mutation_p.L62M|MED15_uc002zss.3_Missense_Mutation_p.L7M	NM_001003891	NP_001003891	Q96RN5	MED15_HUMAN	Homo sapiens mediator complex subunit 15 (MED15), transcript variant 1, mRNA.	88					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			ACTCCAGAGCCTGACTGGCGG	0.617000														58			5		3.59834e-05	3.95114e-05	1	1	0
ABCC2	1244	broad.mit.edu	37	10	101560197	101560197	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:101560197C>A	uc001kqf.2	+	8	1225	c.1086C>A	c.(1084-1086)ctC>ctA	p.L362L		NM_000392	NP_000383	Q92887	MRP2_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 2 (ABCC2), mRNA.	362	ABC transmembrane type-1 1.					apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	TTGGATATCTCTGTGCAATCC	0.448000														204			96		1.43697e-34	1.90374e-34	1	1	0
PPP6R2	9701	broad.mit.edu	37	22	50860689	50860689	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:50860689G>T	uc003blb.2	+	9	1274	c.852G>T	c.(850-852)gaG>gaT	p.E284D	PPP6R2_uc003blc.3_Missense_Mutation_p.E284D|PPP6R2_uc003bky.2_Missense_Mutation_p.E284D|PPP6R2_uc003bla.2_Missense_Mutation_p.E285D|PPP6R2_uc003bkz.2_Missense_Mutation_p.E284D|AB372727_uc011arw.2_5'Flank	NM_001242898	NP_001229827	O75170	PP6R2_HUMAN	Homo sapiens protein phosphatase 6, regulatory subunit 2 (PPP6R2), transcript variant 1, mRNA.	284						cytoplasm|intracellular membrane-bounded organelle	protein binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	22						ACAGGACAGAGGGCTTGGTGG	0.582000														87			8		0.000442599	0.000473562	1	1	0
LRRC3	81543	broad.mit.edu	37	21	45876632	45876632	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:45876632G>T	uc021wjs.1	+	0	105	c.105G>T	c.(103-105)caG>caT	p.Q35H	LRRC3_uc002zfa.3_Missense_Mutation_p.Q35H	NM_030891	NP_112153	Q9BY71	LRRC3_HUMAN	Homo sapiens leucine rich repeat containing 3 (LRRC3), mRNA.	35	LRRNT.					integral to membrane	protein binding			endometrium(2)|kidney(1)|lung(1)|urinary_tract(1)	5		Breast(209;0.00908)		COAD - Colon adenocarcinoma(84;0.148)|Lung(125;0.195)		CCTGCCCACAGCCCTGCCGGT	0.701000														30			9		1.12685e-05	1.25391e-05	1	1	0
SLC4A1AP	22950	broad.mit.edu	37	2	27887225	27887225	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:27887225G>A	uc002rlk.4	+	0	888	c.606G>A	c.(604-606)gaG>gaA	p.E202E	SUPT7L_uc002rlh.1_5'Flank|SUPT7L_uc002rli.1_5'Flank|SUPT7L_uc010ymf.1_5'Flank|SUPT7L_uc010ezh.1_5'Flank|SUPT7L_uc002rlj.1_5'Flank	NM_018158	NP_060628	Q9BWU0	NADAP_HUMAN	Homo sapiens solute carrier family 4 (anion exchanger), member 1, adaptor protein (SLC4A1AP), mRNA.	202	FHA.					cytoplasm|nucleus	double-stranded RNA binding|protein binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.155)					TGTGCCTGGAGCACCCTTCGG	0.622000														21			12		0	0	1	0	0
ATP1B4	23439	broad.mit.edu	37	X	119500594	119500594	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:119500594T>G	uc004esr.3	+	1	362	c.278T>G	c.(277-279)cTg>cGg	p.L93R	ATP1B4_uc004esq.3_Missense_Mutation_p.L93R|ATP1B4_uc011mtx.2_Intron|ATP1B4_uc011mty.2_Missense_Mutation_p.L93R	NM_001142447	NP_001135919	Q9UN42	AT1B4_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, beta 4 polypeptide (ATP1B4), transcript variant 1, mRNA.	93					ATP biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to plasma membrane|nuclear inner membrane	sodium:potassium-exchanging ATPase activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	33						AGTGAATACCTGTGGGATCCA	0.498000														23			23		0	0	1	0	0
SCUBE2	57758	broad.mit.edu	37	11	9068913	9068913	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:9068913T>C	uc001mhi.2	-	15	2067	c.1992A>G	c.(1990-1992)gaA>gaG	p.E664E	SCUBE2_uc021qdk.1_Silent_p.E83E|SCUBE2_uc001mhj.2_Silent_p.E509E	NM_020974	NP_066025	Q9NQ36	SCUB2_HUMAN	Homo sapiens signal peptide, CUB domain, EGF-like 2 (SCUBE2), transcript variant 1, mRNA.	635						extracellular region	calcium ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		CACATTGGTTTTCTGCATGAC	0.557000														44			4		0	0	1	0	0
GRIA4	2893	broad.mit.edu	37	11	105623793	105623793	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:105623793G>A	uc001pix.2	+	3	780	c.334G>A	c.(334-336)Gcc>Acc	p.A112T	GRIA4_uc001piu.1_Missense_Mutation_p.A112T|GRIA4_uc001piw.2_Missense_Mutation_p.A112T|GRIA4_uc001piv.3_Missense_Mutation_p.A112T|GRIA4_uc009yxk.1_Missense_Mutation_p.A112T	NM_000829	NP_000820	P48058	GRIA4_HUMAN	Homo sapiens glutamate receptor, ionotrophic, AMPA 4 (GRIA4), transcript variant 1, mRNA.	112					glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	ATTCTGCAGCGCCTTACATAT	0.463000														86			7		0	0	1	0	0
TBX10	347853	broad.mit.edu	37	11	67402558	67402558	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:67402558C>T	uc001omp.3	-	1	272	c.184G>A	c.(184-186)Gtg>Atg	p.V62M		NM_005995	NP_005986	O75333	TBX10_HUMAN	Homo sapiens T-box 10 (TBX10), mRNA.	62					anatomical structure morphogenesis|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|lung(4)|ovary(1)	7						ACTCTGGACACACGTGGGTTC	0.622000														31			24		0	0	1	0	0
FLJ33360	401172	broad.mit.edu	37	5	6312523	6312523	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:6312523C>T	uc003jdn.1	-	1	450	c.353G>A	c.(352-354)cGt>cAt	p.R118H						Homo sapiens FLJ33360 protein (FLJ33360), non-coding RNA.																		CCCTAGAAGACGGGTCCCTCC	0.592000														8			5		0	0	1	0	0
HSPA6	3310	broad.mit.edu	37	1	161495419	161495419	+	Missense_Mutation	SNP	G	A	A	rs144281379		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:161495419G>A	uc001gaq.3	+	0	1384	c.971G>A	c.(970-972)cGg>cAg	p.R324Q	TRNA_Gly_uc021pdc.1_5'Flank	NM_002155	NP_002146	P17066	HSP76_HUMAN	Homo sapiens heat shock 70kDa protein 6 (HSP70B') (HSPA6), mRNA.	324					response to unfolded protein		ATP binding			endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2)	21	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			AAGGCCCTGCGGGATGCCAAG	0.612000														15			9		0	0	1	0	0
HEATR2	54919	broad.mit.edu	37	7	794424	794424	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:794424C>T	uc010krz.1	+	4	1243	c.1223C>T	c.(1222-1224)gCc>gTc	p.A408V	HEATR2_uc003siz.2_Missense_Mutation_p.A276V	NM_017802	NP_060272	Q86Y56	HEAT2_HUMAN	Homo sapiens HEAT repeat containing 2 (HEATR2), mRNA.	408							protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1)	22		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)		CTGTTCCAGGCCTGCACCGAC	0.637000														3			18		0	0	1	0	0
ADAMTSL4	54507	broad.mit.edu	37	1	150525644	150525644	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:150525644C>T	uc009wlw.3	+	3	507	c.349C>T	c.(349-351)Cag>Tag	p.Q117*	ADAMTSL4_uc001euw.3_Nonsense_Mutation_p.Q117*|ADAMTSL4_uc001eux.3_Nonsense_Mutation_p.Q117*|ADAMTSL4_uc010pcg.2_Nonsense_Mutation_p.Q117*	NM_019032	NP_061905	Q6UY14	ATL4_HUMAN	Homo sapiens ADAMTS-like 4 (ADAMTSL4), transcript variant 1, mRNA.	117					apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			GTACAGGACACAGTCTCGGGG	0.667000														49			30		0	0	1	0	0
WDR81	124997	broad.mit.edu	37	17	1636912	1636912	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:1636912C>A	uc002ftj.2	+	6	4710	c.4581C>A	c.(4579-4581)aaC>aaA	p.N1527K	WDR81_uc002fth.2_Missense_Mutation_p.N476K|WDR81_uc010vqp.1_Missense_Mutation_p.N324K|WDR81_uc002fti.2_Missense_Mutation_p.N300K|WDR81_uc010vqq.1_Missense_Mutation_p.N158K	NM_001163809	NP_001157281	B3KXU1	B3KXU1_HUMAN	Homo sapiens WD repeat domain 81 (WDR81), transcript variant 1, mRNA.	300										cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GCAGTCGCAACCCTGCCAGCG	0.657000														66			11		0.00010058	0.000109296	1	1	0
RAPGEF4	11069	broad.mit.edu	37	2	173900869	173900869	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:173900869A>G	uc002uhv.4	+	27	2904	c.2717A>G	c.(2716-2718)cAc>cGc	p.H906R	RAPGEF4_uc002uhw.4_Missense_Mutation_p.H762R	NM_007023	NP_008954	Q8WZA2	RPGF4_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 4 (RAPGEF4), transcript variant 1, mRNA.	906	Ras-GEF.				G-protein coupled receptor protein signaling pathway|blood coagulation|energy reserve metabolic process|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex|membrane fraction|plasma membrane	Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity|cAMP binding|cAMP-dependent protein kinase regulator activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			TCAAGGAACCACAGGGCCTAC	0.478000														69			5		0	0	1	0	0
RGAG4	340526	broad.mit.edu	37	X	71350537	71350537	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:71350537C>T	uc010nlh.2	-	0	854	c.854G>A	c.(853-855)cGc>cAc	p.R285H	NHSL2_uc011mqa.2_Intron|RGAG4_uc004eaj.2_Missense_Mutation_p.R285H|NHSL2_uc004eak.1_5'Flank	NM_001024455	NP_001019626	Q5HYW3	RGAG4_HUMAN	Homo sapiens retrotransposon gag domain containing 4 (RGAG4), mRNA.	285										cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24	Renal(35;0.156)					GAGCTCTTTGCGGAAGAATTC	0.502000														147			10		0	0	1	0	0
CELSR2	1952	broad.mit.edu	37	1	109804139	109804139	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:109804139G>A	uc001dxa.4	+	3	4247	c.4186G>A	c.(4186-4188)Gcc>Acc	p.A1396T		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 2 (flamingo homolog, Drosophila) (CELSR2), mRNA.	1396	Laminin G-like 1.				Wnt receptor signaling pathway|dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent	cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		GTTCAGGTTTGCCACAAAGGA	0.602000														93			37		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61829138	61829138	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:61829138A>G	uc001jky.3	-	36	11839	c.11501T>C	c.(11500-11502)gTa>gCa	p.V3834A	ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	3834					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TCCTTGTAGTACCCCTGTCTT	0.383000														241			17		0	0	1	0	0
KCNA5	3741	broad.mit.edu	37	12	5154806	5154806	+	Missense_Mutation	SNP	C	T	T	rs145163163		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:5154806C>T	uc001qni.3	+	0	1722	c.1493C>T	c.(1492-1494)tCg>tTg	p.S498L		NM_002234	NP_002225	P22460	KCNA5_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 5 (KCNA5), mRNA.	498						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity	p.S498S(1)		NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52						ATCGTGGGCTCGCTGTGTGCC	0.607000														34			33		0	0	1	0	0
ANKMY2	57037	broad.mit.edu	37	7	16642112	16642112	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:16642112C>T	uc003sti.3	-	8	1278	c.1034G>A	c.(1033-1035)tGc>tAc	p.C345Y	ANKMY2_uc010ktz.3_Non-coding_Transcript	NM_020319	NP_064715	Q8IV38	ANKY2_HUMAN	Homo sapiens ankyrin repeat and MYND domain containing 2 (ANKMY2), mRNA.	345						cilium	zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	23	Lung NSC(10;0.103)|all_lung(11;0.204)			UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		TGTTTTCTGGCAGGTTTGATC	0.363000														83			75		0	0	1	0	0
IL34	146433	broad.mit.edu	37	16	70690536	70690536	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:70690536G>A	uc002ezh.2	+	3	749	c.194G>A	c.(193-195)aGt>aAt	p.S65N	IL34_uc002ezi.2_Missense_Mutation_p.S65N|IL34_uc021tkk.1_Missense_Mutation_p.S65N	NM_152456	NP_689669	Q6ZMJ4	IL34_HUMAN	Homo sapiens interleukin 34 (IL34), transcript variant 1, mRNA.	65					positive regulation of cell proliferation|positive regulation of protein phosphorylation	extracellular space	cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding			breast(1)|central_nervous_system(1)|kidney(9)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(2)	17						TACAAGATCAGTGTGCCTTAC	0.562000														52			4		0	0	1	0	0
ADPRHL1	113622	broad.mit.edu	37	13	114107713	114107713	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:114107713C>T	uc001vtq.1	-	0	127	c.40G>A	c.(40-42)Ggc>Agc	p.G14S		NM_138430	NP_954631	Q8NDY3	ARHL1_HUMAN	Homo sapiens ADP-ribosylhydrolase like 1 (ADPRHL1), transcript variant 1, mRNA.	14					protein de-ADP-ribosylation		ADP-ribosylarginine hydrolase activity|magnesium ion binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	11	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.0195)|GBM - Glioblastoma multiforme(44;0.116)			AGAGCATCGCCGACGCTCCCC	0.587000														22			12		0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	145024784	145024784	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:145024784G>A	uc003zaf.1	-	0	261	c.91C>T	c.(91-93)Cgg>Tgg	p.R31W	PLEC_uc003zag.1_Intron|PLEC_uc003zah.2_Intron|PLEC_uc003zaj.2_Intron	NM_201380	NP_958782	Q15149	PLEC_HUMAN	Homo sapiens plectin (PLEC), transcript variant 6, mRNA.	31	Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	p.R31R(2)		NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CGGGGCCGCCGGTCCTTCTTG	0.697000														2			3		0	0	1	0	0
PIAS1	8554	broad.mit.edu	37	15	68468894	68468894	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:68468894C>T	uc002aqz.3	+	10	1476	c.1383C>T	c.(1381-1383)gaC>gaT	p.D461D		NM_016166	NP_057250	O75925	PIAS1_HUMAN	Homo sapiens protein inhibitor of activated STAT, 1 (PIAS1), mRNA.	461					JAK-STAT cascade|androgen receptor signaling pathway|interferon-gamma-mediated signaling pathway|positive regulation of protein sumoylation|positive regulation of transcription, DNA-dependent|regulation of interferon-gamma-mediated signaling pathway|transcription, DNA-dependent	nuclear speck	DNA binding|SUMO ligase activity|androgen receptor binding|enzyme binding|transcription coactivator activity|transcription corepressor activity|zinc ion binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)	24						AAGTGATTGACCTAACCATAG	0.433000														83			9		0	0	1	0	0
NEUROD4	58158	broad.mit.edu	37	12	55420664	55420664	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:55420664G>T	uc001sgp.4	+	1	819	c.441G>T	c.(439-441)caG>caT	p.Q147H	NEUROD4_uc021qyr.1_Missense_Mutation_p.Q147H	NM_021191	NP_067014	Q9HD90	NDF4_HUMAN	Homo sapiens neurogenic differentiation 4 (NEUROD4), mRNA.	147					amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						AGACTGGCCAGACACCTGAAG	0.502000														43			23		5.35356e-11	6.51008e-11	1	1	0
SEC14L1	6397	broad.mit.edu	37	17	75196713	75196713	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:75196713C>A	uc010dhc.3	+	8	1287	c.967C>A	c.(967-969)Ctt>Att	p.L323I	SEC14L1_uc021udv.1_Missense_Mutation_p.L323I|SEC14L1_uc021udw.1_Missense_Mutation_p.L323I|SEC14L1_uc021udx.1_Missense_Mutation_p.L323I|SEC14L1_uc002jto.3_Missense_Mutation_p.L323I|SEC14L1_uc010wth.2_Missense_Mutation_p.L323I|SEC14L1_uc002jtm.3_Missense_Mutation_p.L323I|SEC14L1_uc010wti.2_Missense_Mutation_p.L289I	NM_001039573	NP_001191337	Q92503	S14L1_HUMAN	Homo sapiens SEC14-like 1 (S. cerevisiae) (SEC14L1), transcript variant 2, mRNA.	323	CRAL-TRIO.				transport	Golgi apparatus|integral to membrane	binding			NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						TCCTCAGGTCCTTCAGGATTA	0.468000														103			7		0.00448238	0.0046769	1	1	0
MEF2B	100271849	broad.mit.edu	37	19	19258575	19258575	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:19258575G>A	uc002nlp.2	-	5	1052	c.325C>T	c.(325-327)Cca>Tca	p.P109S	MEF2B_uc002nll.2_Missense_Mutation_p.P109S|MEF2B_uc010xqo.1_Missense_Mutation_p.P109S|MEF2B_uc010xqp.1_Missense_Mutation_p.P109S|MEF2B_uc002nlo.2_Missense_Mutation_p.P109S|MEF2B_uc002nlk.2_Missense_Mutation_p.P112S	NM_005919	NP_005910			Homo sapiens MEF2BNB-MEF2B readthrough (MEF2BNB-MEF2B), transcript variant 1, mRNA.											breast(1)|haematopoietic_and_lymphoid_tissue(21)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(5;0.00011)|Epithelial(12;0.00412)			TTCTCTCCTGGCTCCTCAGGC	0.627000														24			20		0	0	1	0	0
TLN2	83660	broad.mit.edu	37	15	63055879	63055879	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:63055879C>T	uc002alb.4	+	36	5079	c.5079C>T	c.(5077-5079)gaC>gaT	p.D1693D	TLN2_uc002alc.4_Silent_p.D86D|TLN2_uc002ald.3_Silent_p.D86D	NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	Homo sapiens talin 2 (TLN2), mRNA.	1693					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						CCACGAGGGACGACATCTCTG	0.572000														9			9		0	0	1	0	0
LMOD2	442721	broad.mit.edu	37	7	123302331	123302331	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:123302331C>T	uc003vky.2	+	1	848	c.691C>T	c.(691-693)Cgc>Tgc	p.R231C		NM_207163	NP_997046	Q6P5Q4	LMOD2_HUMAN	Homo sapiens leiomodin 2 (cardiac) (LMOD2), mRNA.	231						cytoskeleton	actin binding|tropomyosin binding										GACCCTTACCCGCTTTGCTGA	0.493000														25			25		0	0	1	0	0
TRAPPC8	22878	broad.mit.edu	37	18	29488893	29488893	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:29488893C>A	uc002kxc.4	-	6	1310	c.946G>T	c.(946-948)Gat>Tat	p.D316Y	TRAPPC8_uc002kxb.4_Missense_Mutation_p.D262Y|TRAPPC8_uc002kxd.4_Non-coding_Transcript|TRAPPC8_uc021uio.1_Missense_Mutation_p.D316Y|TRAPPC8_uc002kxe.2_Missense_Mutation_p.D316Y	NM_014939	NP_055754	Q9Y2L5	TPPC8_HUMAN	Homo sapiens trafficking protein particle complex 8 (TRAPPC8), mRNA.	316					ER to Golgi vesicle-mediated transport	cis-Golgi network				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CTTAGATGATCTGGGCCATCA	0.373000														42			8		0.000157383	0.000170012	1	1	0
SART3	9733	broad.mit.edu	37	12	108920130	108920130	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:108920130C>T	uc001tmz.1	-	15	2351	c.2116G>A	c.(2116-2118)Gtc>Atc	p.V706I	SART3_uc001tmy.1_Missense_Mutation_p.V232I|SART3_uc009zux.1_Missense_Mutation_p.V318I|SART3_uc010swx.1_Missense_Mutation_p.V670I|SART3_uc010swy.1_Missense_Mutation_p.V592I|SART3_uc010swz.1_Missense_Mutation_p.R704H	NM_014706	NP_055521	Q15020	SART3_HUMAN	Homo sapiens squamous cell carcinoma antigen recognized by T cells 3 (SART3), mRNA.	706	RRM 1.				RNA processing	cytoplasm|nuclear speck	RNA binding|nucleotide binding|protein binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|stomach(1)	25						CTGACAAAGACGGTGATGCTG	0.602000									Porokeratosis					23			20		0	0	1	0	0
RBP3	5949	broad.mit.edu	37	10	48388602	48388602	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:48388602G>A	uc001jez.3	-	0	2390	c.2276C>T	c.(2275-2277)gCc>gTc	p.A759V		NM_002900	NP_002891	P10745	RET3_HUMAN	Homo sapiens retinol binding protein 3, interstitial (RBP3), mRNA.	759	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	TGGCCCCACGGCCTTCACTGT	0.627000														12			7		0	0	1	0	0
NTN3	4917	broad.mit.edu	37	16	2523469	2523469	+	Missense_Mutation	SNP	G	A	A	rs140362721		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:2523469G>A	uc002cqj.3	+	4	1561	c.1358G>A	c.(1357-1359)cGc>cAc	p.R453H	TBC1D24_uc002cql.3_5'Flank|TBC1D24_uc002cqk.3_5'Flank	NM_006181	NP_006172	O00634	NET3_HUMAN	Homo sapiens netrin 3 (NTN3), mRNA.	453	NTR.				axon guidance|muscle cell differentiation|positive regulation of muscle cell differentiation	proteinaceous extracellular matrix				breast(1)|central_nervous_system(2)|lung(3)|prostate(1)	7						GGCAGCTACCGCATCAGCCTA	0.617000														68			38		0	0	1	0	0
LIG1	3978	broad.mit.edu	37	19	48665519	48665519	+	Splice_Site	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:48665519T>G	uc002pia.1	-	3	227	c.107_splice	c.e3+1	p.K36_splice	LIG1_uc002phz.1_Splice_Site|LIG1_uc002pib.1_Splice_Site|LIG1_uc010xzf.1_Splice_Site_p.K36_splice|LIG1_uc010xzg.1_Intron|LIG1_uc010xzh.1_Splice_Site	NM_000234	NP_000225	P18858	DNLI1_HUMAN	Homo sapiens ligase I, DNA, ATP-dependent (LIG1), mRNA.	36					DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle|anatomical structure morphogenesis|base-excision repair|cell division|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding			breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	TGTGACATACTTTGGAGGGGG	0.478000								Nucleotide excision repair (NER)						128			80		0	0	1	0	0
ACOX3	8310	broad.mit.edu	37	4	8418133	8418133	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:8418133G>A	uc010idk.3	-	1	261	c.116C>T	c.(115-117)aCg>aTg	p.T39M	ACOX3_uc003glc.4_Missense_Mutation_p.T39M|ACOX3_uc003gld.4_Missense_Mutation_p.T39M	NM_003501	NP_003492	O15254	ACOX3_HUMAN	Homo sapiens acyl-CoA oxidase 3, pristanoyl (ACOX3), transcript variant 1, mRNA.	39					bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1)	42						CTCCCCTTCCGTGAACAGCGC	0.587000														61			22		0	0	1	0	0
TRAPPC11	60684	broad.mit.edu	37	4	184587440	184587440	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:184587440G>T	uc003ivx.3	+	2	437	c.235G>T	c.(235-237)Ggg>Tgg	p.G79W	TRAPPC11_uc003ivw.3_Missense_Mutation_p.G79W|TRAPPC11_uc010isc.3_Intron	NM_021942	NP_068761	Q7Z392	CD041_HUMAN	Homo sapiens trafficking protein particle complex 11 (TRAPPC11), transcript variant 1, mRNA.	79																	CATTCCTAAAGGGATCTTAAA	0.458000														68			40		1.52319e-26	1.99779e-26	1	1	0
NIT2	56954	broad.mit.edu	37	3	100057992	100057992	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:100057992C>T	uc003dtv.3	+	1	143	c.69C>T	c.(67-69)cgC>cgT	p.R23R	NIT2_uc011bha.1_Silent_p.R23R	NM_020202	NP_064587	Q9NQR4	NIT2_HUMAN	Homo sapiens nitrilase family, member 2 (NIT2), mRNA.	23	CN hydrolase.				nitrogen compound metabolic process		omega-amidase activity			breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)	17						ACGTCACTCGCGCTTGTAGCT	0.483000														152			48		0	0	1	0	0
SLC25A2	83884	broad.mit.edu	37	5	140682820	140682820	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140682820C>A	uc003ljf.3	-	0	793	c.613G>T	c.(613-615)Gat>Tat	p.D205Y		NM_031947	NP_114153	Q9BXI2	ORNT2_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2 (SLC25A2), nuclear gene encoding mitochondrial protein, mRNA.	205					mitochondrial ornithine transport|urea cycle	integral to membrane|mitochondrial inner membrane	L-ornithine transmembrane transporter activity	p.K204N(1)		breast(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00204)	L-Ornithine(DB00129)	CCTAGTTCATCTTTTGATCTC	0.438000														68			6		0.00116845	0.00123466	1	1	0
DCBLD2	131566	broad.mit.edu	37	3	98519468	98519468	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:98519468G>T	uc003dte.3	-	14	2218	c.1855C>A	c.(1855-1857)Ctg>Atg	p.L619M	DCBLD2_uc003dtd.3_Missense_Mutation_p.L605M	NM_080927	NP_563615	Q96PD2	DCBD2_HUMAN	Homo sapiens discoidin, CUB and LCCL domain containing 2 (DCBLD2), mRNA.	605					cell adhesion|intracellular receptor mediated signaling pathway|negative regulation of cell growth|wound healing	cell surface|integral to plasma membrane				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|stomach(2)	25						CTTGGACTCAGGTGATTAACT	0.502000														116			8		0.0477658	0.0485825	1	1	0
DCAF4L1	285429	broad.mit.edu	37	4	41984211	41984211	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:41984211G>A	uc003gwk.2	+	0	499	c.402G>A	c.(400-402)tcG>tcA	p.S134S		NM_001029955	NP_001025126	Q3SXM0	DC4L1_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 4-like 1 (DCAF4L1), mRNA.	134										breast(1)|endometrium(5)|kidney(6)|large_intestine(11)|lung(12)|prostate(1)|skin(1)	37						GCTGGGCCTCGCTGAACCAGT	0.562000														66			25		0	0	1	0	0
ANGPT1	284	broad.mit.edu	37	8	108296915	108296915	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:108296915G>T	uc003ymn.3	-	6	1668	c.1200C>A	c.(1198-1200)aaC>aaA	p.N400K	ANGPT1_uc011lhv.2_Missense_Mutation_p.N200K|ANGPT1_uc003ymo.3_Missense_Mutation_p.N399K|ANGPT1_uc003ymp.4_Missense_Mutation_p.N199K	NM_001146	NP_001137	Q15389	ANGP1_HUMAN	Homo sapiens angiopoietin 1 (ANGPT1), transcript variant 1, mRNA.	400	Fibrinogen C-terminal.				Tie receptor signaling pathway|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of ERK1 and ERK2 cascade|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding			NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			CTTACCTATAGTTTTGCTTTT	0.378000														39			25		9.86323e-18	1.25926e-17	1	1	0
CELSR3	1951	broad.mit.edu	37	3	48694535	48694535	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:48694535G>A	uc003cuf.1	-	3	4205	c.4205C>T	c.(4204-4206)gCg>gTg	p.A1402V	CELSR3_uc003cul.3_Missense_Mutation_p.A1332V	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA.	1332	EGF-like 1; calcium-binding.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TGGAGCTAGCGCCGAGAAACT	0.672000														23			17		0	0	1	0	0
COPA	1314	broad.mit.edu	37	1	160261620	160261620	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:160261620G>A	uc001fvv.4	-	29	3668	c.3274C>T	c.(3274-3276)Cgc>Tgc	p.R1092C	COPA_uc009wti.3_Missense_Mutation_p.R1083C	NM_001098398	NP_001091868	P53621	COPA_HUMAN	Homo sapiens coatomer protein complex, subunit alpha (COPA), transcript variant 1, mRNA.	1083					COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity	p.T1092T(1)		central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TCACAGATGCGCTTCTGCTGT	0.483000											OREG0013929	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		216			97		0	0	1	0	0
CD33	945	broad.mit.edu	37	19	51728765	51728765	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:51728765G>T	uc002pwa.2	+	1	369	c.329G>T	c.(328-330)aGg>aTg	p.R110M	CD33_uc010eos.1_Missense_Mutation_p.R110M|CD33_uc010eot.1_Intron|CD33_uc010eou.1_5'Flank	NM_001772	NP_001763	P20138	CD33_HUMAN	Homo sapiens CD33 molecule (CD33), transcript variant 1, mRNA.	110	Ig-like V-type.				cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	GACGCCAGGAGGAGGGATAAT	0.512000														52			7		8.12818e-05	8.84769e-05	1	1	0
WDR36	134430	broad.mit.edu	37	5	110461365	110461365	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:110461365C>T	uc003kpd.3	+	21	2695	c.2578C>T	c.(2578-2580)Cga>Tga	p.R860*	WDR36_uc010jbu.3_Non-coding_Transcript	NM_139281	NP_644810	Q8NI36	WDR36_HUMAN	Homo sapiens WD repeat domain 36 (WDR36), mRNA.	860					rRNA processing|response to stimulus|visual perception	small-subunit processome				cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)		AACAGAGCTGCGAAGCTTGTC	0.408000														26			28		0	0	1	0	0
LYST	1130	broad.mit.edu	37	1	235926125	235926125	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:235926125G>A	uc001hxj.2	-	21	6323	c.6148C>T	c.(6148-6150)Cgg>Tgg	p.R2050W	LYST_uc009xgb.1_Non-coding_Transcript|LYST_uc010pxs.1_Non-coding_Transcript	NM_000081	NP_000072	Q99698	LYST_HUMAN	Homo sapiens lysosomal trafficking regulator (LYST), mRNA.	2050					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	p.R2050W(2)		NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			ATGATTGACCGCACTTTCTCC	0.373000														36			18		0	0	1	0	0
POPDC3	64208	broad.mit.edu	37	6	105607695	105607695	+	Splice_Site	SNP	C	A	A	rs113419658		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:105607695C>A	uc003prb.3	-	3	888	c.486_splice	c.e3-1	p.R162_splice	BVES-AS1_uc003pqz.3_Intron|POPDC3_uc003pra.3_Splice_Site	NM_022361	NP_071756	Q9HBV1	POPD3_HUMAN	Homo sapiens popeye domain containing 3 (POPDC3), transcript variant 1, mRNA.	162						integral to membrane				NS(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(3)|urinary_tract(1)	26		all_cancers(87;4.87e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0157)|Colorectal(196;0.202)|Lung NSC(302;0.238)				CACTCTGATCCTATCAAAACA	0.463000														20			16		0.00316338	0.0033099	1	1	0
DSP	1832	broad.mit.edu	37	6	7583532	7583532	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:7583532C>T	uc003mxp.1	+	23	6316	c.6037C>T	c.(6037-6039)Cgg>Tgg	p.R2013W	DSP_uc003mxq.1_Missense_Mutation_p.R1414W|DSP_uc021yle.1_Missense_Mutation_p.R1570W	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	2013	Globular 2.				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)		GCCATTCCTTCGGGGTGCAGG	0.453000														34			18		0	0	1	0	0
PRAMEF1	65121	broad.mit.edu	37	1	12856088	12856088	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:12856088C>A	uc001auj.2	+	3	1471	c.1368C>A	c.(1366-1368)ccC>ccA	p.P456P		NM_023013	NP_075389	O95521	PRAM1_HUMAN	Homo sapiens PRAME family member 1 (PRAMEF1), mRNA.	456								p.P456L(2)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GCCCCACCCCCTGCCCTTCCT	0.557000														183			15		1.66031e-10	2.00663e-10	1	1	0
SVIL	6840	broad.mit.edu	37	10	29770598	29770598	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:29770598G>A	uc001iut.1	-	27	5768	c.5015C>T	c.(5014-5016)aCg>aTg	p.T1672M	LOC387647_uc001iup.3_Intron|LOC387647_uc001iuq.1_Intron|SVIL_uc010qdw.1_Missense_Mutation_p.T586M|SVIL_uc001iuu.1_Missense_Mutation_p.T1246M|SVIL_uc009xlc.2_Missense_Mutation_p.T464M	NM_021738	NP_068506	O95425	SVIL_HUMAN	Homo sapiens supervillin (SVIL), transcript variant 2, mRNA.	1672	Interaction with NEB.				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				GAACAAAATCGTCTCATTGTG	0.522000														245			92		0	0	1	0	0
INPP5B	3633	broad.mit.edu	37	1	38343867	38343867	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:38343867T>C	uc001ccf.1	-	9	1215	c.1178A>G	c.(1177-1179)gAc>gGc	p.D393G	INPP5B_uc009vvk.1_Missense_Mutation_p.D498G|INPP5B_uc001ccg.1_Missense_Mutation_p.D557G|INPP5B_uc010oij.1_Non-coding_Transcript	NM_005540	NP_005531	P32019	I5P2_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase, 75kDa (INPP5B), nuclear gene encoding mitochondrial protein, mRNA.	637					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to membrane|microtubule cytoskeleton	GTPase activator activity|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1)	15	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TACCCCGATGTCAAACACTGA	0.493000														25			16		0	0	1	0	0
VLDLR	7436	broad.mit.edu	37	9	2643437	2643437	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:2643437C>T	uc003zhk.1	+	4	1123	c.726C>T	c.(724-726)agC>agT	p.S242S	VLDLR_uc003zhl.1_Silent_p.S242S|VLDLR_uc003zhm.1_Non-coding_Transcript	NM_003383	NP_003374	P98155	VLDLR_HUMAN	Homo sapiens very low density lipoprotein receptor (VLDLR), transcript variant 1, mRNA.	242	LDL-receptor class A 6.				cholesterol metabolic process|endocytosis|lipid transport|memory|very-low-density lipoprotein particle clearance	coated pit|integral to membrane|membrane fraction|plasma membrane|very-low-density lipoprotein particle	apolipoprotein binding|calcium ion binding|low-density lipoprotein receptor activity|very-low-density lipoprotein particle receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)		GTCCAGCCAGCGAAATCCAGT	0.562000														16			13		0	0	1	0	0
UBR4	23352	broad.mit.edu	37	1	19415397	19415397	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:19415397G>T	uc001bbi.3	-	97	14290	c.14286C>A	c.(14284-14286)acC>acA	p.T4762T	UBR4_uc010ocv.2_Silent_p.T285T|UBR4_uc009vph.3_Silent_p.T396T|UBR4_uc010ocw.2_Silent_p.T426T|UBR4_uc001bbg.3_Silent_p.T473T|UBR4_uc001bbh.3_Silent_p.T471T	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 4 (UBR4), mRNA.	4762					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TCTCTGCCAAGGTCCCAATGC	0.567000														63			5		0.014758	0.0151755	1	1	0
AK310228	0	broad.mit.edu	37	16	16465373	16465373	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:16465373G>A	uc002dey.2	+	0	377	c.90G>A	c.(88-90)tcG>tcA	p.S30S						SubName: Full=cDNA FLJ42525 fis, clone BRACE3001391, highly similar to Polycystin;																		CCAACAACTCGGACTGGGCTG	0.687000														46			18		0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144904624	144904624	+	Splice_Site	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:144904624C>A	uc021ouh.1	-	20	2989	c.2687_splice	c.e20+1	p.S896_splice	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|PDE4DIP_uc001elw.4_Splice_Site_p.S896_splice|PDE4DIP_uc001elx.4_Splice_Site_p.S962_splice|PDE4DIP_uc001emd.2_Splice_Site_p.S896_splice|PDE4DIP_uc001emc.2_Splice_Site_p.S896_splice|PDE4DIP_uc001emb.1_Splice_Site_p.S1059_splice|PDE4DIP_uc001eme.1_Intron	NM_001198834	NP_001185763	Q5VU43	MYOME_HUMAN	Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA.	896					cellular protein complex assembly	Golgi apparatus|centrosome|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CTCTCTCTTACCTCTCTGGAT	0.373000			T	PDGFRB	MPD									194			9		0.00448238	0.0046769	1	1	0
FLT1	2321	broad.mit.edu	37	13	28877367	28877367	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:28877367G>A	uc001usb.3	-	29	4239	c.3954C>T	c.(3952-3954)atC>atT	p.I1318I	FLT1_uc010aap.2_Silent_p.I323I|FLT1_uc010aaq.2_Silent_p.I443I|FLT1_uc001usa.3_Silent_p.I536I	NM_002019	NP_002010	P17948	VGFR1_HUMAN	Homo sapiens fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor) (FLT1), transcript variant 1, mRNA.	1318					cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	Golgi apparatus|extracellular space|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	AGCAGCACGCGATTTTCCTTT	0.567000														46			22		0	0	1	0	0
ADCY2	108	broad.mit.edu	37	5	7789844	7789844	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:7789844C>T	uc003jdz.1	+	19	2626	c.2559C>T	c.(2557-2559)cgC>cgT	p.R853R	ADCY2_uc011cmo.1_Silent_p.R673R|ADCY2_uc010itm.1_Silent_p.R49R	NM_020546	NP_065433	Q08462	ADCY2_HUMAN	Homo sapiens adenylate cyclase 2 (brain) (ADCY2), mRNA.	853					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						ACCTGAACCGCGTGCTGCTGG	0.532000														43			6		0	0	1	0	0
FABP7	2173	broad.mit.edu	37	6	123104897	123104897	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:123104897C>A	uc003pzf.3	+	3	678	c.384C>A	c.(382-384)caC>caA	p.H128Q	FABP7_uc003pze.1_3'UTR	NM_001446	NP_001437	O15540	FABP7_HUMAN	Homo sapiens fatty acid binding protein 7, brain (FABP7), mRNA.	128	Fatty acid binding.				negative regulation of cell proliferation	cytoplasm	lipid binding|transporter activity	p.R127H(1)		kidney(1)|large_intestine(1)|lung(2)|stomach(1)	5				GBM - Glioblastoma multiforme(226;0.226)	Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)|gamma-Homolinolenic acid(DB00154)	CTGTTCGCCACTATGAGAAGG	0.403000														101			12		0.0202918	0.0208584	1	1	0
CALR3	125972	broad.mit.edu	37	19	16591453	16591453	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:16591453A>C	uc002ned.2	-	7	1046	c.983T>G	c.(982-984)tTt>tGt	p.F328C	MED26_uc002nee.2_Non-coding_Transcript	NM_145046	NP_659483	Q96L12	CALR3_HUMAN	Homo sapiens calreticulin 3 (CALR3), mRNA.	328	C-domain.				protein folding	endoplasmic reticulum lumen	calcium ion binding|sugar binding|unfolded protein binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|prostate(1)|skin(1)	15						GGCCTTGCCAAAATTATCTGC	0.368000														14			15		0	0	1	0	0
C5orf34	375444	broad.mit.edu	37	5	43506021	43506021	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:43506021G>T	uc003jnz.2	-	3	1163	c.761C>A	c.(760-762)cCt>cAt	p.P254H	C5orf34_uc011cpx.2_Missense_Mutation_p.P140H	NM_198566	NP_940968	Q96MH7	CE034_HUMAN	Homo sapiens chromosome 5 open reading frame 34 (C5orf34), mRNA.	254										breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|stomach(2)	21	Lung NSC(6;2.07e-05)					TAAAGACAAAGGATATTTCCA	0.398000														86			12		7.03913e-09	8.30711e-09	1	1	0
IL9	3578	broad.mit.edu	37	5	135231130	135231130	+	Splice_Site	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:135231130G>T	uc003lbb.1	-	3	194	c.183_splice	c.e3+1	p.S61_splice		NM_000590	NP_000581	P15248	IL9_HUMAN	Homo sapiens interleukin 9 (IL9), mRNA.	61					immune response|inflammatory response|positive regulation of cell proliferation|positive regulation of interleukin-5 biosynthetic process	extracellular space	cytokine activity|cytokine receptor binding|growth factor activity			large_intestine(3)|lung(2)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TATACTTACAGAGGGAATGCC	0.294000														66			8		1.76689e-08	2.07166e-08	1	1	0
RYR3	6263	broad.mit.edu	37	15	34113774	34113774	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:34113774C>A	uc001zhi.3	+	79	11036	c.10966C>A	c.(10966-10968)Ctg>Atg	p.L3656M	RYR3_uc010bar.3_Missense_Mutation_p.L3651M	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	3656					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GATCGCCATTCTGAACGGAGG	0.542000														31			24		4.87955e-14	6.09581e-14	1	1	0
FLCN	201163	broad.mit.edu	37	17	17129551	17129551	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:17129551G>T	uc002gra.4	-	4	839	c.335C>A	c.(334-336)cCc>cAc	p.P112H	PLD6_uc010cpn.3_Intron|FLCN_uc002grb.4_Missense_Mutation_p.P112H|FLCN_uc002grc.2_Missense_Mutation_p.P112H	NM_144997	NP_659434	Q8NFG4	FLCN_HUMAN	Homo sapiens folliculin (FLCN), transcript variant 1, mRNA.	112					regulation of protein phosphorylation	cytoplasm|nucleus|plasma membrane	protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|stomach(1)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						GGGGTGGCTGGGGTGCTGGTG	0.597000									Familial Non-VHL Clear Cell Renal Cancer;Birt-Hogg-Dub syndrome					63			8		1.26484e-09	1.50989e-09	1	1	0
CDH23	64072	broad.mit.edu	37	10	73571132	73571132	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:73571132C>T	uc001jrx.4	+	60	9519	c.9129C>T	c.(9127-9129)aaC>aaT	p.N3043N	CDH23_uc001jsg.4_Silent_p.N806N|CDH23_uc001jsh.4_Silent_p.N806N|CDH23_uc001jsi.4_Silent_p.N806N|CDH23_uc001jsj.4_5'Flank|CDH23_uc010qjr.2_5'Flank	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA.	3046					calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						GGAACTACAACGTCCTGGACG	0.632000														49			6		0	0	1	0	0
DPF3	8110	broad.mit.edu	37	14	73159848	73159848	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:73159848C>A	uc001xnc.2	-	6	691	c.678G>T	c.(676-678)gaG>gaT	p.E226D	DPF3_uc001xnd.1_Non-coding_Transcript|DPF3_uc001xnf.2_Non-coding_Transcript|DPF3_uc010ari.1_Missense_Mutation_p.E226D|DPF3_uc010ttq.1_Missense_Mutation_p.E236D	NM_012074	NP_036206	Q92784	DPF3_HUMAN	Homo sapiens D4, zinc and double PHD fingers, family 3 (DPF3), mRNA.	226					chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex	nucleic acid binding|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)	22				BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		CTTCATCCCCCTCCTCGCTGG	0.552000														97			6		8.12818e-05	8.84769e-05	1	1	0
EPB41L5	57669	broad.mit.edu	37	2	120799600	120799600	+	Nonsense_Mutation	SNP	G	T	T	rs142458983		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:120799600G>T	uc002tmg.3	+	2	390	c.199G>T	c.(199-201)Gag>Tag	p.E67*	EPB41L5_uc010flk.3_Nonsense_Mutation_p.E67*|EPB41L5_uc010fll.3_Nonsense_Mutation_p.E67*|EPB41L5_uc002tmh.4_Nonsense_Mutation_p.E67*	NM_020909	NP_065960	Q9HCM4	E41L5_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1 like 5 (EPB41L5), transcript variant 1, mRNA.	67	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1)	26						CAAAGGACAAGAGTTGTTTGA	0.348000														98			6		3.59834e-05	3.95114e-05	1	1	0
PLA2G3	50487	broad.mit.edu	37	22	31533810	31533810	+	Missense_Mutation	SNP	A	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:31533810A>T	uc003aka.3	-	3	1081	c.952T>A	c.(952-954)Tcc>Acc	p.S318T		NM_015715	NP_056530	Q9NZ20	PA2G3_HUMAN	Homo sapiens phospholipase A2, group III (PLA2G3), mRNA.	318					cilium morphogenesis|lipid catabolic process|phospholipid metabolic process	centriole|extracellular space|plasma membrane	calcium ion binding|calcium-dependent phospholipase A2 activity			large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	18						GGGCGCTTGGACCCTTTCTGA	0.672000														99			56		0	0	1	0	0
OR8U8	504189	broad.mit.edu	37	11	56143597	56143597	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:56143597C>T	uc001nit.2	+	0	498	c.498C>T	c.(496-498)ctC>ctT	p.L166L		NM_001013356	NP_001013374	P0C7N1	OR8U8_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily U, member 8 (OR8U8), mRNA.	166					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity										CCTTCCGCCTCTCCTATTGCC	0.453000														156			56		0	0	1	0	0
SPA17	53340	broad.mit.edu	37	11	124561643	124561643	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:124561643T>C	uc001qap.3	+	3	413	c.277T>C	c.(277-279)Tct>Cct	p.S93P		NM_017425	NP_059121	Q15506	SP17_HUMAN	Homo sapiens sperm autoantigenic protein 17 (SPA17), mRNA.	93					binding of sperm to zona pellucida|ciliary or flagellar motility|signal transduction|spermatogenesis	cytoplasm|flagellum|membrane|motile cilium|primary cilium	cAMP-dependent protein kinase regulator activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	5	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0223)		GTCTCAGATATCTGGGAAGGA	0.383000														63			4		0	0	1	0	0
WSB2	55884	broad.mit.edu	37	12	118481168	118481168	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:118481168A>G	uc001twr.2	-	2	295	c.197T>C	c.(196-198)tTt>tCt	p.F66S	WSB2_uc010sza.1_5'UTR|WSB2_uc010szb.1_Intron|WSB2_uc009zws.1_Missense_Mutation_p.F66S	NM_018639	NP_061109	Q9NYS7	WSB2_HUMAN	Homo sapiens WD repeat and SOCS box containing 2 (WSB2), mRNA.	66					intracellular signal transduction					breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TTTGGCTTCAAACCCTTTAGG	0.488000														115			9		0	0	1	0	0
MAF1	84232	broad.mit.edu	37	8	145161325	145161325	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:145161325C>T	uc003zbc.1	+	4	959	c.458C>T	c.(457-459)gCg>gTg	p.A153V	SHARPIN_uc003zba.3_5'Flank|SHARPIN_uc003zbb.3_5'Flank|KIAA1875_uc003zbd.3_5'Flank|KIAA1875_uc011lky.1_5'Flank	NM_032272	NP_115648	Q9H063	MAF1_HUMAN	Homo sapiens MAF1 homolog (S. cerevisiae) (MAF1), mRNA.	153					negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	cytoplasm|nucleus				central_nervous_system(1)|lung(8)|urinary_tract(1)	10	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-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;3.1e-42)|Epithelial(56;1.23e-40)|all cancers(56;4.84e-36)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CTGTGGAACGCGGTGGACGAG	0.592000														21			10		0	0	1	0	0
PORCN	64840	broad.mit.edu	37	X	48372938	48372938	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:48372938A>C	uc010nie.1	+	9	1029	c.871A>C	c.(871-873)Aat>Cat	p.N291H	PORCN_uc004djr.1_Missense_Mutation_p.N286H|PORCN_uc004djs.1_Missense_Mutation_p.N280H|PORCN_uc011mlx.1_Missense_Mutation_p.N209H|PORCN_uc004dju.1_Missense_Mutation_p.N149H|PORCN_uc004djv.1_Missense_Mutation_p.N291H|PORCN_uc004djw.1_Missense_Mutation_p.N285H	NM_203475	NP_982301	Q9H237	PORCN_HUMAN	Homo sapiens porcupine homolog (Drosophila) (PORCN), transcript variant D, mRNA.	291					Wnt receptor signaling pathway	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CAAGCCACTGAATGTGGAGCT	0.517000														57			7		0	0	1	0	0
KIF21B	23046	broad.mit.edu	37	1	200948844	200948844	+	Splice_Site	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:200948844C>T	uc001gvs.2	-	30	4297	c.3980_splice	c.e30-1	p.D1327_splice	KIF21B_uc009wzl.2_Splice_Site_p.D1327_splice|KIF21B_uc001gvr.2_Splice_Site_p.D1314_splice|KIF21B_uc010ppn.2_Splice_Site_p.D1314_splice	NM_001252100	NP_001239029	O75037	KI21B_HUMAN	Homo sapiens kinesin family member 21B (KIF21B), transcript variant 1, mRNA.	1327					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						CAGCTTCGGTCTGTGAGAGAT	0.597000											OREG0014066	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		96			79		0	0	1	0	0
HCFC1	3054	broad.mit.edu	37	X	153223328	153223328	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153223328G>T	uc004fjp.3	-	11	2566	c.2038C>A	c.(2038-2040)Ctg>Atg	p.L680M		NM_005334	NP_005325	P51610	HCFC1_HUMAN	Homo sapiens host cell factor C1 (VP16-accessory protein) (HCFC1), mRNA.	680	Interaction with SIN3A.				cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex|MLL5-L complex|Set1C/COMPASS complex|mitochondrion	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ACTTTGCCCAGATTGGAAATC	0.562000														38			24		3.6726e-16	4.64609e-16	1	1	0
ELFN2	114794	broad.mit.edu	37	22	37769952	37769952	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:37769952C>A	uc003asq.4	-	2	2409	c.1623G>T	c.(1621-1623)gtG>gtT	p.V541V	ELFN2_uc021wph.1_Silent_p.V541V	NM_052906	NP_443138	Q5R3F8	LRFN6_HUMAN	Homo sapiens extracellular leucine-rich repeat and fibronectin type III domain containing 2 (ELFN2), mRNA.	541						cell surface|integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					TGACCTTGTCCACCTCCTTGG	0.642000														91			6		0.00116845	0.00123466	1	1	0
NHS	4810	broad.mit.edu	37	X	17745136	17745136	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:17745136G>A	uc011mix.2	+	6	3248	c.2910G>A	c.(2908-2910)acG>acA	p.T970T	NHS_uc004cxx.3_Silent_p.T949T|NHS_uc004cxy.3_Silent_p.T793T|NHS_uc004cxz.3_Silent_p.T772T|NHS_uc004cya.3_Silent_p.T672T	NM_001136024	NP_001129496	Q6T4R5	NHS_HUMAN	Homo sapiens Nance-Horan syndrome (congenital cataracts and dental anomalies) (NHS), transcript variant 2, mRNA.	949						nucleus				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					GCACCGCTACGGGTACCACAG	0.438000														71			41		0	0	1	0	0
ITPR1	3708	broad.mit.edu	37	3	4859858	4859858	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:4859858G>A	uc003bqc.3	+	58	8265	c.7915G>A	c.(7915-7917)Gtc>Atc	p.V2639I	ITPR1_uc021wsi.1_Missense_Mutation_p.V2606I|ITPR1_uc021wsj.1_Missense_Mutation_p.V2591I|ITPR1_uc011asu.2_Missense_Mutation_p.V617I|ITPR1_uc010hcc.2_Missense_Mutation_p.V374I|ITPR1_uc011asv.2_Missense_Mutation_p.V330I	NM_001168272	NP_001161744	Q14643	ITPR1_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 1 (ITPR1), transcript variant 3, mRNA.	2654					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		GTGCTTCATCGTCCTGGTGAA	0.468000														13			11		0	0	1	0	0
PRTG	283659	broad.mit.edu	37	15	55912934	55912934	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:55912934C>T	uc002adg.3	-	18	3173	c.3125G>A	c.(3124-3126)gGt>gAt	p.G1042D		NM_173814	NP_776175	Q2VWP7	PRTG_HUMAN	Homo sapiens protogenin (PRTG), mRNA.	1042					multicellular organismal development	integral to membrane				breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		AATTATAGGACCATAGCTATT	0.323000														38			14		0	0	1	0	0
TMEM61	199964	broad.mit.edu	37	1	55452039	55452039	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:55452039G>A	uc001cyd.3	+	1	559	c.285G>A	c.(283-285)ggG>ggA	p.G95G		NM_182532	NP_872338	Q8N0U2	TMM61_HUMAN	Homo sapiens transmembrane protein 61 (TMEM61), mRNA.	95						integral to membrane				endometrium(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	4						GCATCCCAGGGCCACCTCGAT	0.642000														96			59		0	0	1	0	0
PRPSAP1	5635	broad.mit.edu	37	17	74307765	74307765	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:74307765G>T	uc010wtb.1	-	9	928	c.707C>A	c.(706-708)aCt>aAt	p.T236N	PRPSAP1_uc010wta.1_Missense_Mutation_p.T339N	NM_002766	NP_002757	Q14558	KPRA_HUMAN	Homo sapiens phosphoribosyl pyrophosphate synthetase-associated protein 1 (PRPSAP1), mRNA.	310					nucleotide biosynthetic process		enzyme inhibitor activity|identical protein binding|magnesium ion binding|ribose phosphate diphosphokinase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	17						ATGAGGGACAGTATTCGTCAC	0.433000														48			5		0.014758	0.0151755	1	1	0
KCNT1	57582	broad.mit.edu	37	9	138662884	138662884	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:138662884C>T	uc011mdq.2	+	17	2025	c.1951C>T	c.(1951-1953)Cag>Tag	p.Q651*	KCNT1_uc011mdr.2_Nonsense_Mutation_p.Q478*|KCNT1_uc010nbf.3_Nonsense_Mutation_p.Q606*|KCNT1_uc004cgo.1_Nonsense_Mutation_p.Q400*	NM_020822	NP_065873	B7ZVY4	B7ZVY4_HUMAN	Homo sapiens potassium channel, subfamily T, member 1 (KCNT1), mRNA.	651						membrane	binding|calcium-activated potassium channel activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		CTTCTCGGGGCAGGGGCTGCA	0.647000														7			11		0	0	1	0	0
PCGF5	84333	broad.mit.edu	37	10	93008278	93008278	+	Nonsense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:93008278G>T	uc001khi.3	+	3	634	c.226G>T	c.(226-228)Gag>Tag	p.E76*	PCGF5_uc001khh.3_Nonsense_Mutation_p.E76*|PCGF5_uc010qnk.2_Nonsense_Mutation_p.E76*	NM_032373	NP_115749	Q86SE9	PCGF5_HUMAN	Homo sapiens polycomb group ring finger 5 (PCGF5), mRNA.	76					regulation of transcription, DNA-dependent|transcription, DNA-dependent	PcG protein complex|centrosome	zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)	12						CAATACATTAGAGGAAATTAT	0.353000														109			15		3.45872e-05	3.81293e-05	1	1	0
PTPN14	5784	broad.mit.edu	37	1	214557133	214557133	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:214557133G>A	uc001hkk.2	-	12	2718	c.2065C>T	c.(2065-2067)Ctc>Ttc	p.L689F	PTPN14_uc021piy.1_Missense_Mutation_p.L453F|PTPN14_uc010pty.2_Missense_Mutation_p.L590F	NM_005401	NP_005392	Q15678	PTN14_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 14 (PTPN14), mRNA.	689					lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		TACTGAGGGAGCTGGGGGACC	0.632000														23			25		0	0	1	0	0
NCF1	653361	broad.mit.edu	37	7	74191612	74191612	+	Splice_Site	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:74191612G>T	uc003ubb.3	+	2	143	c.73_splice	c.e2-1	p.V25_splice	NCF1_uc010lbs.1_Splice_Site_p.V25_splice|NCF1_uc011kfh.1_Splice_Site_p.V25_splice	NM_000265	NP_000256	P14598	NCF1_HUMAN	Homo sapiens neutrophil cytosolic factor 1 (NCF1), mRNA.	25	PX.				cell communication|cellular defense response|innate immune response|protein targeting to membrane|respiratory burst|superoxide anion generation	NADPH oxidase complex|cytosol|soluble fraction	GTP binding|GTPase activity|SH3 domain binding|electron carrier activity|phosphatidylinositol binding|superoxide-generating NADPH oxidase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(3)	10						CTTTCCCCCAGGTGTACATGT	0.587000														59			7		0.0477658	0.0485825	1	1	0
RBM39	9584	broad.mit.edu	37	20	34319989	34319989	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:34319989C>T	uc002xeb.3	-	3	579	c.170G>A	c.(169-171)cGa>cAa	p.R57Q	RBM39_uc002xdz.3_Missense_Mutation_p.R33Q|RBM39_uc010gfn.3_5'UTR|RBM39_uc002xef.3_5'UTR|RBM39_uc010zvn.2_5'UTR|RBM39_uc002xec.3_Missense_Mutation_p.R57Q|RBM39_uc010zvm.2_Missense_Mutation_p.R57Q|RBM39_uc002xeg.3_Missense_Mutation_p.R57Q|RBM39_uc002xed.3_5'UTR|RBM39_uc002xee.3_5'UTR	NM_184234	NP_909122	Q14498	RBM39_HUMAN	Homo sapiens RNA binding motif protein 39 (RBM39), transcript variant 1, mRNA.	57	Arg/Ser-rich (RS domain).				RNA splicing|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nuclear speck	RNA binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	all_epithelial(2;0.00295)|Lung NSC(9;0.00453)|Breast(12;0.00544)|all_lung(11;0.00676)					GTCTCTACTTCGCTTCCGTTC	0.443000														80			47		0	0	1	0	0
PWWP2A	114825	broad.mit.edu	37	5	159545952	159545952	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:159545952G>A	uc011ded.2	-	0	501	c.444C>T	c.(442-444)ggC>ggT	p.G148G	PWWP2A_uc003lxv.4_Silent_p.G148G|PWWP2A_uc011dec.2_Silent_p.G148G	NM_001130864	NP_001124336	Q96N64	PWP2A_HUMAN	Homo sapiens PWWP domain containing 2A (PWWP2A), transcript variant 2, mRNA.	148										kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGGAGTCCCCGCCCGCCGGCG	0.731000														5			7		0	0	1	0	0
GIMAP6	474344	broad.mit.edu	37	7	150327221	150327221	+	Nonsense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:150327221C>A	uc022apv.1	-	1	490	c.10G>T	c.(10-12)Gaa>Taa	p.E4*	GIMAP6_uc003whn.3_Nonsense_Mutation_p.E4*|GIMAP6_uc003whm.3_Nonsense_Mutation_p.E4*	NM_001244072	NP_001231001	Q6P9H5	GIMA6_HUMAN	Homo sapiens GTPase, IMAP family member 6 (GIMAP6), transcript variant 2, mRNA.	4							GTP binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCATATTCTTCTTCCTCCATC	0.433000														75			18		0.000566183	0.000605641	1	1	0
ODZ4	26011	broad.mit.edu	37	11	78437139	78437139	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:78437139G>T	uc001ozl.4	-	22	3998	c.3535C>A	c.(3535-3537)Ctc>Atc	p.L1179I		NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA.	1179					signal transduction	integral to membrane				breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						TGAATGTTGAGGGCATGATGT	0.453000														280			23		6.21321e-17	7.89382e-17	1	1	0
TPRG1L	127262	broad.mit.edu	37	1	3545130	3545130	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:3545130T>C	uc001akm.3	+	4	863	c.782T>C	c.(781-783)cTg>cCg	p.L261P	TPRG1L_uc009vlj.3_Missense_Mutation_p.L202P	NM_182752	NP_877429	Q5T0D9	TPRGL_HUMAN	Homo sapiens tumor protein p63 regulated 1-like (TPRG1L), mRNA.	261						cell junction|synaptic vesicle				endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(1)	8	all_cancers(77;0.0119)|all_epithelial(69;0.00481)|Ovarian(185;0.0634)|Lung NSC(156;0.162)|all_lung(157;0.172)	all_epithelial(116;7.37e-22)|all_lung(118;8.23e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.41e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.83e-22)|GBM - Glioblastoma multiforme(42;4.77e-14)|Colorectal(212;1.12e-05)|COAD - Colon adenocarcinoma(227;5.61e-05)|Kidney(185;0.000351)|BRCA - Breast invasive adenocarcinoma(365;0.000688)|KIRC - Kidney renal clear cell carcinoma(229;0.00553)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.201)		GAGGCGAAACTGGGCTACTCC	0.602000														24			14		0	0	1	0	0
NEXN	91624	broad.mit.edu	37	1	78383379	78383379	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:78383379C>T	uc001dic.4	+	2	453	c.156C>T	c.(154-156)gaC>gaT	p.D52D	NEXN_uc001dia.3_Silent_p.D52D|NEXN_uc009wcb.1_Intron|NEXN_uc001dib.4_Intron|NEXN_uc001did.1_5'Flank|NEXN_uc001dif.1_5'Flank	NM_144573	NP_653174	Q0ZGT2	NEXN_HUMAN	Homo sapiens nexilin (F actin binding protein) (NEXN), transcript variant 1, mRNA.	52	Glu-rich.				regulation of cell migration|regulation of cytoskeleton organization	Z disc|cytoskeleton	actin filament binding|structural constituent of muscle			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				Colorectal(170;0.114)		GATCTAGAGACGAAAAACAAA	0.353000														48			13		0	0	1	0	0
USP9X	8239	broad.mit.edu	37	X	41048719	41048719	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:41048719G>A	uc004dfb.3	+	25	4601	c.3968G>A	c.(3967-3969)tGt>tAt	p.C1323Y	USP9X_uc004dfc.3_Missense_Mutation_p.C1323Y	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN	Homo sapiens ubiquitin specific peptidase 9, X-linked (USP9X), transcript variant 3, mRNA.	1323					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						CTATTGCACTGTCACAGCAAG	0.338000														40			22		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89939703	89939703	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:89939703G>T	uc003kju.3	+	13	2733	c.2637G>T	c.(2635-2637)acG>acT	p.T879T	GPR98_uc003kjt.3_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	879					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TCAATATAACGATTCTGAAAA	0.403000														12			8		3.09899e-07	3.55757e-07	1	1	0
TRPM4	54795	broad.mit.edu	37	19	49685991	49685991	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:49685991C>T	uc002pmw.3	+	10	1528	c.1420C>T	c.(1420-1422)Cgc>Tgc	p.R474C	TRPM4_uc010emu.3_Missense_Mutation_p.R474C|TRPM4_uc010yak.2_5'UTR|TRPM4_uc002pmx.3_Missense_Mutation_p.R300C|TRPM4_uc010emv.3_Missense_Mutation_p.R359C|TRPM4_uc010yal.2_Missense_Mutation_p.R120C|TRPM4_uc002pmy.3_5'UTR	NM_017636	NP_060106	Q8TD43	TRPM4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 4 (TRPM4), transcript variant 1, mRNA.	474					dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	Golgi apparatus|endoplasmic reticulum|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		CTCGCTCATCCGCAACCTTTT	0.672000														27			19		0	0	1	0	0
TNS3	64759	broad.mit.edu	37	7	47342575	47342575	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:47342575C>T	uc003tnw.3	-	21	3788	c.3430G>A	c.(3430-3432)Gct>Act	p.A1144T	TNS3_uc022acn.1_Missense_Mutation_p.A701T	NM_022748	NP_073585	Q68CZ2	TENS3_HUMAN	Homo sapiens tensin 3 (TNS3), mRNA.	1144						focal adhesion	protein binding			NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						GCTTCTGAAGCCTTGGAAAAG	0.587000														110			34		0	0	1	0	0
CDKL5	6792	broad.mit.edu	37	X	18622863	18622863	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:18622863C>T	uc004cym.3	+	11	2072	c.1819C>T	c.(1819-1821)Cgt>Tgt	p.R607C	CDKL5_uc004cyn.3_Missense_Mutation_p.R607C|CDKL5_uc022btn.1_Missense_Mutation_p.R598C	NM_003159	NP_003150	O76039	CDKL5_HUMAN	Homo sapiens cyclin-dependent kinase-like 5 (CDKL5), transcript variant I, mRNA.	607					neuron migration|positive regulation of Rac GTPase activity|positive regulation of axon extension|positive regulation of dendrite morphogenesis|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|Rac GTPase binding|cyclin-dependent protein kinase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					TTCCCAGCAACGTCCTCATAG	0.522000														180			103		0	0	1	0	0
PCNXL3	399909	broad.mit.edu	37	11	65403922	65403922	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:65403922G>A	uc001oey.2	+	33	5654	c.5654G>A	c.(5653-5655)gGc>gAc	p.G1885D	PCNXL3_uc001oez.2_Missense_Mutation_p.G772D	NM_032223	NP_115599	Q9H6A9	PCX3_HUMAN	Homo sapiens pecanex-like 3 (Drosophila) (PCNXL3), mRNA.	1885	Gly-rich.					integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						TCCCTGAGTGGCTCTGGTGAT	0.692000														22			19		0	0	1	0	0
IPO9	55705	broad.mit.edu	37	1	201821264	201821264	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:201821264C>T	uc001gwz.3	+	4	597	c.547C>T	c.(547-549)Cca>Tca	p.P183S		NM_018085	NP_060555	Q96P70	IPO9_HUMAN	Homo sapiens importin 9 (IPO9), mRNA.	183					protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity			cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						CACACAGATGCCACTTGTTGC	0.363000														48			10		0	0	1	0	0
C15orf42	90381	broad.mit.edu	37	15	90119199	90119199	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:90119199A>G	uc002boe.3	+	0	382	c.382A>G	c.(382-384)Agc>Ggc	p.S128G	C15orf42_uc021sug.1_Missense_Mutation_p.S128G	NM_152259	NP_689472	Q7Z2Z1	TICRR_HUMAN	Homo sapiens chromosome 15 open reading frame 42 (C15orf42), mRNA.	128					DNA repair|DNA replication|G2/M transition checkpoint|cell cycle|formation of translation preinitiation complex|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation	nucleus	chromatin binding|protein binding			NS(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(21)|ovary(6)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	59	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			GATCCTGCGGAGCAGCGGGAG	0.706000														5			3		0	0	1	0	0
TRHDE	29953	broad.mit.edu	37	12	72863628	72863628	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:72863628G>T	uc001sxa.3	+	3	1301	c.1271G>T	c.(1270-1272)aGt>aTt	p.S424I		NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	Homo sapiens thyrotropin-releasing hormone degrading enzyme (TRHDE), mRNA.	424					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						CTGGATCCCAGTGTTTCATCT	0.383000														69			7		5.18039e-06	5.80246e-06	1	1	0
HELLS	3070	broad.mit.edu	37	10	96356854	96356854	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:96356854G>A	uc009xuo.3	+	21	2651	c.2546G>A	c.(2545-2547)cGa>cAa	p.R849Q	HELLS_uc001kjs.3_Missense_Mutation_p.R787Q|HELLS_uc001kjt.3_Missense_Mutation_p.R803Q|HELLS_uc009xul.3_Missense_Mutation_p.R705Q|HELLS_uc009xum.3_Missense_Mutation_p.R673Q|HELLS_uc009xun.3_Missense_Mutation_p.R679Q|HELLS_uc001kju.3_Missense_Mutation_p.R442Q|HELLS_uc009xup.3_Non-coding_Transcript|HELLS_uc009xuq.3_Missense_Mutation_p.R665Q|HELLS_uc009xur.3_Non-coding_Transcript	NM_018063	NP_060533	Q9NRZ9	HELLS_HUMAN	Homo sapiens helicase, lymphoid-specific (HELLS), mRNA.	803					cell division|centromeric heterochromatin formation|lymphocyte proliferation|maintenance of DNA methylation|methylation-dependent chromatin silencing|mitosis|transcription, DNA-dependent	centromeric heterochromatin|nucleus	ATP binding|DNA binding|helicase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		Colorectal(252;0.0429)		all cancers(201;2.13e-05)		TTGTTAGATCGAAGTGATCTT	0.299000														30			28		0	0	1	0	0
PIGT	51604	broad.mit.edu	37	20	44047956	44047956	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:44047956G>A	uc002xoh.2	+	3	605	c.515G>A	c.(514-516)cGc>cAc	p.R172H	PIGT_uc010ghb.2_Missense_Mutation_p.R162H|PIGT_uc010zwt.2_Non-coding_Transcript|PIGT_uc010ghd.2_Intron|PIGT_uc010ghc.2_Intron|PIGT_uc010ghe.2_Missense_Mutation_p.R135H|PIGT_uc010ghf.2_Intron|PIGT_uc010zwz.2_Intron|PIGT_uc010zww.2_Missense_Mutation_p.R116H|PIGT_uc010zwy.2_Missense_Mutation_p.R70H|PIGT_uc002xoj.2_Missense_Mutation_p.R172H|PIGT_uc010zwu.2_5'UTR|PIGT_uc002xoi.2_Non-coding_Transcript|PIGT_uc010zwv.2_5'UTR|PIGT_uc010zwx.2_Intron|PIGT_uc010zxa.2_5'UTR|PIGT_uc002xol.1_Missense_Mutation_p.R28H|PIGT_uc010zxb.1_5'Flank	NM_015937	NP_057021	Q969N2	PIGT_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class T (PIGT), transcript variant 1, mRNA.	172					C-terminal protein lipidation|attachment of GPI anchor to protein	GPI-anchor transamidase complex	protein binding			breast(1)|endometrium(2)|kidney(5)|large_intestine(4)|lung(7)|pancreas(1)|skin(1)|stomach(1)	22		Myeloproliferative disorder(115;0.0122)				TACTTTCTGCGCTATGCTGTG	0.602000														24			10		0	0	1	0	0
CSNK1D	1453	broad.mit.edu	37	17	80211027	80211027	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:80211027G>T	uc002kej.3	-	3	767	c.430C>A	c.(430-432)Ctg>Atg	p.L144M	CSNK1D_uc002kei.3_Missense_Mutation_p.L144M|CSNK1D_uc010wvj.2_Intron|CSNK1D_uc010dil.3_5'Flank|CSNK1D_uc002keh.3_Missense_Mutation_p.L9M|CSNK1D_uc010dim.1_5'Flank	NM_001893	NP_001884	P48730	KC1D_HUMAN	Homo sapiens casein kinase 1, delta (CSNK1D), transcript variant 1, mRNA.	144	Protein kinase.				DNA repair|G2/M transition of mitotic cell cycle|Wnt receptor signaling pathway|circadian regulation of gene expression|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|regulation of circadian rhythm	centrosome|cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|large_intestine(2)|lung(7)	11	Breast(20;0.00136)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0155)			ATGTACACCAGGTTGCCCTTC	0.547000														80			56		6.20203e-27	8.14073e-27	1	1	0
MTHFSD	64779	broad.mit.edu	37	16	86575410	86575410	+	Nonsense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:86575410C>A	uc002fjn.3	-	6	625	c.574G>T	c.(574-576)Gag>Tag	p.E192*	MTHFSD_uc002fjm.3_Nonsense_Mutation_p.E191*|MTHFSD_uc010voo.2_Nonsense_Mutation_p.E172*|MTHFSD_uc010vop.2_Nonsense_Mutation_p.E29*|MTHFSD_uc010voq.2_Nonsense_Mutation_p.E191*|MTHFSD_uc010vor.2_Nonsense_Mutation_p.E192*|MTHFSD_uc002fjo.3_Nonsense_Mutation_p.E29*|MTHFSD_uc002fjp.2_Nonsense_Mutation_p.E172*	NM_001159377	NP_001152849	Q2M296	MTHSD_HUMAN	Homo sapiens methenyltetrahydrofolate synthetase domain containing (MTHFSD), transcript variant 1, mRNA.	192					folic acid-containing compound biosynthetic process		5-formyltetrahydrofolate cyclo-ligase activity|ATP binding|RNA binding			endometrium(1)|large_intestine(3)|lung(6)|skin(1)	11						TCAACAAGCTCTTCAGGGATG	0.587000														26			13		1.15088e-07	1.32926e-07	1	1	0
ATP2C2	9914	broad.mit.edu	37	16	84497225	84497225	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:84497225C>T	uc010chj.3	+	27	2904	c.2815C>T	c.(2815-2817)Ctg>Ttg	p.L939L	ATP2C2_uc002fhx.3_Silent_p.L910L|ATP2C2_uc002fhy.3_Silent_p.L927L|ATP2C2_uc002fhz.3_Silent_p.L759L|ATP2C2_uc002fia.3_Silent_p.L221L	NM_014861	NP_055676	O75185	AT2C2_HUMAN	Homo sapiens ATPase, Ca++ transporting, type 2C, member 2 (ATP2C2), mRNA.	910					ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						GGCAGATTTGCTGTTTTTAAC	0.502000														25			20		0	0	1	0	0
DENND2C	163259	broad.mit.edu	37	1	115153703	115153703	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:115153703G>A	uc001efd.1	-	8	2062	c.1360C>T	c.(1360-1362)Ctg>Ttg	p.L454L	DENND2C_uc001eez.3_Non-coding_Transcript|DENND2C_uc001efc.1_Silent_p.L397L	NM_198459	NP_940861	Q68D51	DEN2C_HUMAN	Homo sapiens DENN/MADD domain containing 2C (DENND2C), transcript variant 2, mRNA.	454										NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTCTTTGGCAGATACTCGGCA	0.463000														39			16		0	0	1	0	0
BCAS3	54828	broad.mit.edu	37	17	59469378	59469378	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:59469378C>T	uc002iyv.4	+	24	2788	c.2679C>T	c.(2677-2679)agC>agT	p.S893S	BCAS3_uc002iyu.4_Silent_p.S878S|BCAS3_uc002iyw.4_3'UTR|BCAS3_uc002iyy.4_Silent_p.S649S|BCAS3_uc002iyz.4_Silent_p.S469S|BCAS3_uc002iza.4_Silent_p.S454S|BCAS3_uc002izb.4_Non-coding_Transcript|BCAS3_uc002izc.4_Non-coding_Transcript	NM_001099432	NP_001092902	Q9H6U6	BCAS3_HUMAN	Homo sapiens breast carcinoma amplified sequence 3 (BCAS3), transcript variant 1, mRNA.	893						nucleus				NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			TGAGTAACAGCTCAGGCTCCA	0.597000														48			37		0	0	1	0	0
ARID4B	51742	broad.mit.edu	37	1	235377287	235377287	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:235377287C>T	uc021pks.1	-	16	2015	c.1638G>A	c.(1636-1638)gaG>gaA	p.E546E	ARID4B_uc001hwq.3_Silent_p.E546E|ARID4B_uc001hwr.3_Intron|ARID4B_uc001hws.4_Intron|ARID4B_uc001hwt.4_Silent_p.E227E	NM_001206794	NP_001193723	Q4LE39	ARI4B_HUMAN	Homo sapiens AT rich interactive domain 4B (RBP1-like) (ARID4B), transcript variant 3, mRNA.	546	Glu-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			cttcctcctcctcctcctctt	0.393000														50			46		0	0	1	0	0
ACTN2	88	broad.mit.edu	37	1	236914862	236914862	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:236914862G>T	uc001hyf.2	+	14	1953	c.1749G>T	c.(1747-1749)gaG>gaT	p.E583D	ACTN2_uc001hyg.2_Missense_Mutation_p.E375D|ACTN2_uc009xgi.1_Missense_Mutation_p.E583D|ACTN2_uc010pxu.1_Missense_Mutation_p.E272D	NM_001103	NP_001094	P35609	ACTN2_HUMAN	Homo sapiens actinin, alpha 2 (ACTN2), mRNA.	583					focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	Z disc|actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium	FATZ 1 binding|ZASP binding|actin binding|calcium ion binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin Z domain binding|titin binding			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			ACGAGGTGGAGAAGGTGATTC	0.577000														57			9		1.76689e-08	2.07166e-08	1	1	0
ALDH3B2	222	broad.mit.edu	37	11	67430845	67430845	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:67430845G>A	uc001omr.3	-	9	1438	c.999C>T	c.(997-999)caC>caT	p.H333H	ALDH3B2_uc001oms.3_Silent_p.H333H	NM_000695	NP_001026786	P48448	AL3B2_HUMAN	Homo sapiens aldehyde dehydrogenase 3 family, member B2 (ALDH3B2), transcript variant 1, mRNA.	333					alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	18					NADH(DB00157)	TGAACTTGCCGTGGTACCGGC	0.647000														20			5		0	0	1	0	0
C3orf32	51066	broad.mit.edu	37	3	8672545	8672545	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:8672545C>T	uc011atg.2	-	5	511	c.471G>A	c.(469-471)ccG>ccA	p.P157P	C3orf32_uc003bqz.3_Silent_p.P135P|C3orf32_uc003bqt.3_Silent_p.P84P|C3orf32_uc003bqu.3_Silent_p.P135P|C3orf32_uc003bqv.3_Silent_p.P84P|C3orf32_uc003bqx.3_Non-coding_Transcript|C3orf32_uc003bqy.3_Silent_p.P135P	NM_015931	NP_057015	Q9Y2M2	CC032_HUMAN	Homo sapiens chromosome 3 open reading frame 32 (C3orf32), mRNA.	135	Cys-rich.									endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	14						CCTGAAACATCGGAGGACCTT	0.527000														25			19		0	0	1	0	0
ZNF470	388566	broad.mit.edu	37	19	57089703	57089703	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:57089703C>A	uc002qnl.4	+	5	2582	c.1906C>A	c.(1906-1908)Ctt>Att	p.L636I	ZNF470_uc010etn.3_Intron	NM_001001668	NP_001001668	Q6ECI4	ZN470_HUMAN	Homo sapiens zinc finger protein 470 (ZNF470), mRNA.	636					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		TCGTAAATCCCTTACTCTGCA	0.428000														51			4		0.150653	0.152248	1	1	0
F10	2159	broad.mit.edu	37	13	113803537	113803537	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:113803537G>A	uc001vsx.3	+	7	1230	c.1173G>A	c.(1171-1173)aaG>aaA	p.K391K	F10_uc001vsy.3_3'UTR	NM_000504	NP_000495	P00742	FA10_HUMAN	Homo sapiens coagulation factor X (F10), mRNA.	391	Peptidase S1.				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	Golgi lumen|endoplasmic reticulum lumen|extracellular region	calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity			endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0805)|Epithelial(84;0.231)		Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031)	ACAGCTGCAAGCTGTCCAGCA	0.647000														24			19		0	0	1	0	0
PARP16	54956	broad.mit.edu	37	15	65553256	65553256	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:65553256T>C	uc002aoq.3	-	4	1054	c.800A>G	c.(799-801)tAc>tGc	p.Y267C	PARP16_uc002aoo.3_Missense_Mutation_p.Y267C|PARP16_uc002aop.3_Missense_Mutation_p.Y152C	NM_017851	NP_060321	Q8N5Y8	PAR16_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 16 (PARP16), mRNA.	267	PARP catalytic.					integral to membrane	NAD+ ADP-ribosyltransferase activity			kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	9						CACCAGGAGGTACTTCACTCG	0.483000														141			15		0	0	1	0	0
KIAA1841	84542	broad.mit.edu	37	2	61310368	61310368	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:61310368C>T	uc002saw.4	+	7	1112	c.809C>T	c.(808-810)gCa>gTa	p.A270V	KIAA1841_uc002sax.4_Missense_Mutation_p.A124V|KIAA1841_uc002say.3_Missense_Mutation_p.A270V|KIAA1841_uc002sav.4_Missense_Mutation_p.A270V	NM_001129993	NP_001123465	Q6NSI8	K1841_HUMAN	Homo sapiens KIAA1841 (KIAA1841), transcript variant 1, mRNA.	270										breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	25			Epithelial(17;0.193)			TGTATTAATGCAAATCTTCTC	0.299000														35			27		0	0	1	0	0
SLC37A4	2542	broad.mit.edu	37	11	118898339	118898339	+	Splice_Site	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:118898339C>A	uc010ryr.1	-	6	1063	c.622_splice	c.e6+1	p.G208_splice	SLC37A4_uc009zan.2_Splice_Site|SLC37A4_uc010rys.1_Splice_Site_p.G208_splice|SLC37A4_uc010ryt.1_Splice_Site_p.G135_splice|SLC37A4_uc001pus.2_Splice_Site_p.G208_splice	NM_001164278	NP_001157750	O43826	G6PT1_HUMAN	Homo sapiens solute carrier family 37 (glucose-6-phosphate transporter), member 4 (SLC37A4), transcript variant 2, mRNA.	209					glucose homeostasis|glucose metabolic process	endoplasmic reticulum membrane|integral to endoplasmic reticulum membrane|integral to membrane	glucose-6-phosphate transmembrane transporter activity			endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|prostate(1)	6	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.58e-05)		GGGGCTCACCCTTCTTGCCCT	0.577000														24			14		2.23348e-06	2.52156e-06	1	1	0
UTRN	7402	broad.mit.edu	37	6	144747452	144747452	+	Silent	SNP	G	A	A	rs138951487	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:144747452G>A	uc003qkt.3	+	5	527	c.435G>A	c.(433-435)tcG>tcA	p.S145S	UTRN_uc010khq.1_Silent_p.S145S	NM_007124	NP_009055	P46939	UTRO_HUMAN	Homo sapiens utrophin (UTRN), mRNA.	145	Actin-binding.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		ATGTCATGTCGGACCTGCAGC	0.473000														26			24		0	0	1	0	0
POLR1B	84172	broad.mit.edu	37	2	113305097	113305097	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:113305097C>T	uc002thw.2	+	2	1025	c.445C>T	c.(445-447)Cgt>Tgt	p.R149C	POLR1B_uc010fkn.2_Missense_Mutation_p.R93C|POLR1B_uc002thx.2_Missense_Mutation_p.R10C|POLR1B_uc010fko.2_Missense_Mutation_p.R149C|POLR1B_uc010fkp.2_Intron|POLR1B_uc002thy.2_Missense_Mutation_p.R10C|POLR1B_uc010yxo.1_Intron	NM_019014	NP_061887	Q9H9Y6	RPA2_HUMAN	Homo sapiens polymerase (RNA) I polypeptide B, 128kDa (POLR1B), transcript variant 1, mRNA.	149					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						TTGCAACTTACGTAACCTTCC	0.493000														62			8		0	0	1	0	0
SLC35G5	83650	broad.mit.edu	37	8	11188669	11188669	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:11188669G>A	uc003wtp.1	+	0	175	c.54G>A	c.(52-54)ccG>ccA	p.P18P		NM_054028	NP_473369	Q96KT7	AMCL2_HUMAN	Homo sapiens solute carrier family 35, member G5 (SLC35G5), mRNA.	18						integral to membrane											ACCCATCGCCGCCCTCCGCTC	0.677000														29			22		0	0	1	0	0
RGS3	5998	broad.mit.edu	37	9	116346234	116346234	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:116346234G>A	uc004bhq.3	+	20	2751	c.2542G>A	c.(2542-2544)Gcg>Acg	p.A848T	RGS3_uc004bhs.3_Missense_Mutation_p.A738T|RGS3_uc004bht.3_Missense_Mutation_p.A567T|RGS3_uc010muy.3_Intron|RGS3_uc004bhv.3_Missense_Mutation_p.A169T|RGS3_uc010muz.1_Missense_Mutation_p.A187T|RGS3_uc004bhw.3_Intron|RGS3_uc011lxh.2_Missense_Mutation_p.A169T|RGS3_uc004bhx.3_Missense_Mutation_p.A169T|RGS3_uc004bhy.1_Missense_Mutation_p.A158T|RGS3_uc004bhz.3_Missense_Mutation_p.A190T	NM_144488	NP_652759	P49796	RGS3_HUMAN	Homo sapiens regulator of G-protein signaling 3 (RGS3), transcript variant 6, mRNA.	848					inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						GGACCCACCTGCGGCCCCCAG	0.642000														36			17		0	0	1	0	0
FOXR2	139628	broad.mit.edu	37	X	55650155	55650155	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:55650155A>C	uc004duo.3	+	0	323	c.11A>C	c.(10-12)aAa>aCa	p.K4T		NM_198451	NP_940853	Q6PJQ5	FOXR2_HUMAN	Homo sapiens forkhead box R2 (FOXR2), mRNA.	4					embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA 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			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	19						ATGGACTTAAAACTAAAAGAC	0.433000														48			6		0	0	1	0	0
PIK3C2A	5286	broad.mit.edu	37	11	17158125	17158125	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:17158125G>T	uc001mmq.4	-	7	1817	c.1752C>A	c.(1750-1752)atC>atA	p.I584I	PIK3C2A_uc009ygu.1_Intron|PIK3C2A_uc010rcw.2_Silent_p.I204I|PIK3C2A_uc001mmr.3_Intron|PIK3C2A_uc010rcx.1_Silent_p.I584I	NM_002645	NP_002636	O00443	P3C2A_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, alpha polypeptide (PIK3C2A), mRNA.	584					cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	Golgi apparatus|clathrin-coated vesicle|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58					Phosphatidylserine(DB00144)	AAGCACTACAGATTTTTCTTA	0.333000														65			52		1.72845e-40	2.29751e-40	1	1	0
CC2D1A	54862	broad.mit.edu	37	19	14038837	14038837	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:14038837G>A	uc002mxo.2	+	22	2747	c.2448G>A	c.(2446-2448)gtG>gtA	p.V816V	CC2D1A_uc002mxp.2_Silent_p.V816V|CC2D1A_uc010dzh.2_Silent_p.V385V	NM_017721	NP_060191	Q6P1N0	C2D1A_HUMAN	Homo sapiens coiled-coil and C2 domain containing 1A (CC2D1A), mRNA.	816					positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			CGGCAGCTGTGCCCACAGTGA	0.627000														67			8		0	0	1	0	0
ZNF167	55888	broad.mit.edu	37	3	44612794	44612794	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:44612794G>A	uc003cnj.3	+	5	2608	c.2192G>A	c.(2191-2193)cGt>cAt	p.R731H	ZNF167_uc003cnk.3_Intron|ZNF167_uc010hin.3_Missense_Mutation_p.R731H|ZNF167_uc003cni.3_Intron|ZNF167_uc010hio.3_Intron	NM_018651	NP_061121	Q9P0L1	ZN167_HUMAN	Homo sapiens zinc finger protein 167 (ZNF167), transcript variant 1, mRNA.	731					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(4)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29				KIRC - Kidney renal clear cell carcinoma(197;0.0486)|Kidney(197;0.0609)		TTTAGTCAGCGTTCCACTTTT	0.458000														49			37		0	0	1	0	0
OR2M3	127062	broad.mit.edu	37	1	248366786	248366786	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:248366786A>C	uc010pzg.2	+	0	417	c.417A>C	c.(415-417)aaA>aaC	p.K139N		NM_001004689	NP_001004689	Q8NG83	OR2M3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 3 (OR2M3), mRNA.	139					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P138P(1)		endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TGAGCCCTAAAATTTGTGGAC	0.468000														264			36		0	0	1	0	0
COL1A2	1278	broad.mit.edu	37	7	94059628	94059628	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:94059628C>A	uc003ung.1	+	51	4495	c.4024C>A	c.(4024-4026)Ctt>Att	p.L1342I	COL1A2_uc011kib.1_Missense_Mutation_p.L194I	NM_000089	NP_000080	P08123	CO1A2_HUMAN	Homo sapiens collagen, type I, alpha 2 (COL1A2), mRNA.	1342	Fibrillar collagen NC1.				Rho protein signal transduction|axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|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)	CCTGCCCTTCCTTGATATTGC	0.363000										HNSCC(75;0.22)				180			79		1.75807e-36	2.3313e-36	1	1	0
TRMT6	51605	broad.mit.edu	37	20	5922666	5922666	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:5922666C>A	uc002wmh.1	-	7	1165	c.1043G>T	c.(1042-1044)aGg>aTg	p.R348M	TRMT6_uc010zra.1_Missense_Mutation_p.R178M|TRMT6_uc010gbn.1_3'UTR	NM_015939	NP_057023	Q9UJA5	TRM6_HUMAN	Homo sapiens tRNA methyltransferase 6 homolog (S. cerevisiae) (TRMT6), mRNA.	348					regulation of translational initiation|tRNA processing	nucleus	protein binding|translation initiation factor activity	p.Q347H(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)	15						TTCTTGTCTCCTCTGTTTTTC	0.423000														153			19		1.96292e-10	2.36921e-10	1	1	0
MUC17	140453	broad.mit.edu	37	7	100674976	100674976	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100674976G>A	uc003uxp.1	+	2	332	c.279G>A	c.(277-279)tcG>tcA	p.S93S	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	93	Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.S93L(1)		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)					AGATGACCTCGATTGAGTCCA	0.488000														59			24		0	0	1	0	0
INPP5F	22876	broad.mit.edu	37	10	121587087	121587087	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:121587087G>A	uc001leo.3	+	19	3410	c.3194G>A	c.(3193-3195)aGc>aAc	p.S1065N	INPP5F_uc001lep.3_Missense_Mutation_p.S455N	NM_014937	NP_055752	Q9Y2H2	SAC2_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase F (INPP5F), transcript variant 1, mRNA.	1065							phosphoric ester hydrolase activity			breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		AGCAGTAGCAGCAGAGCAGTC	0.483000														74			41		0	0	1	0	0
RAP1GAP	5909	broad.mit.edu	37	1	21930309	21930309	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:21930309C>T	uc001bev.3	-	15	1543	c.1525G>A	c.(1525-1527)Gcc>Acc	p.A509T	RAP1GAP_uc001bew.3_Intron|RAP1GAP_uc001bey.3_Intron|RAP1GAP_uc001bex.3_Intron	NM_001145657	NP_001139129	P47736	RPGP1_HUMAN	Homo sapiens RAP1 GTPase activating protein (RAP1GAP), transcript variant 2, mRNA.	515					regulation of Ras GTPase activity|signal transduction	Golgi membrane|cytosol|membrane fraction	GTPase activator activity|GTPase activity|Ras GTPase binding|protein homodimerization activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)		CCAGAGCCGGCGGCCCCGCGG	0.647000														14			6		0	0	1	0	0
FAM22F	54754	broad.mit.edu	37	9	97084494	97084494	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:97084494C>A	uc004aup.1	-	2	852	c.831G>T	c.(829-831)gaG>gaT	p.E277D		NM_017561	NP_060031	A1L443	FA22F_HUMAN	Homo sapiens family with sequence similarity 22, member F (FAM22F), mRNA.	277										central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(2)|prostate(2)|skin(2)|urinary_tract(1)	19		Acute lymphoblastic leukemia(62;0.136)				TTTCCGCCATCTCGTAGAAGA	0.642000														75			8		0.000157383	0.000170012	1	1	0
MAP1B	4131	broad.mit.edu	37	5	71495246	71495246	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:71495246G>T	uc003kbw.4	+	4	6305	c.6064G>T	c.(6064-6066)Ggt>Tgt	p.G2022C	MAP1B_uc010iyw.1_Missense_Mutation_p.G2039C|MAP1B_uc010iyx.1_Missense_Mutation_p.G1896C|MAP1B_uc010iyy.1_Missense_Mutation_p.G1896C	NM_005909	NP_005900	P46821	MAP1B_HUMAN	Homo sapiens microtubule-associated protein 1B (MAP1B), mRNA.	2022						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		TGAGTCTGAAGGTTATTCCTA	0.463000														139			10		4.68919e-08	5.46558e-08	1	1	0
BHLHE40	8553	broad.mit.edu	37	3	5024755	5024755	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:5024755G>A	uc003bqf.3	+	4	924	c.617G>A	c.(616-618)aGc>aAc	p.S206N	BHLHE40_uc011asw.2_Missense_Mutation_p.S66N	NM_003670	NP_003661	O14503	BHE40_HUMAN	Homo sapiens basic helix-loop-helix family, member e40 (BHLHE40), mRNA.	206						Golgi apparatus|nucleolus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(2)	12						GAAAAACCCAGCTCTCCGGCC	0.607000														38			20		0	0	1	0	0
ADHFE1	137872	broad.mit.edu	37	8	67355048	67355048	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:67355048C>A	uc003xwb.4	+	2	147	c.113C>A	c.(112-114)cCt>cAt	p.P38H	ADHFE1_uc003xwd.4_Non-coding_Transcript|ADHFE1_uc003xwc.4_Intron|ADHFE1_uc003xwe.4_Intron|ADHFE1_uc003xwf.4_Non-coding_Transcript|ADHFE1_uc011les.2_Intron|ADHFE1_uc011leq.1_Non-coding_Transcript|ADHFE1_uc011ler.1_Non-coding_Transcript	NM_144650	NP_653251	Q8IWW8	HOT_HUMAN	Homo sapiens alcohol dehydrogenase, iron containing, 1 (ADHFE1), nuclear gene encoding mitochondrial protein, mRNA.	38					2-oxoglutarate metabolic process|molecular hydrogen transport	mitochondrial matrix	hydroxyacid-oxoacid transhydrogenase activity|metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	29		Lung NSC(129;0.197)	Epithelial(68;0.0321)|all cancers(69;0.0751)|BRCA - Breast invasive adenocarcinoma(89;0.0855)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			GGACTTTCACCTTCTGGGAAA	0.303000														48			19		1.22574e-08	1.44238e-08	1	1	0
GLRB	2743	broad.mit.edu	37	4	158057822	158057822	+	Missense_Mutation	SNP	C	T	T	rs145671356		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:158057822C>T	uc003ipj.2	+	4	701	c.499C>T	c.(499-501)Cgt>Tgt	p.R167C	GLRB_uc021xtp.1_Missense_Mutation_p.R167C|GLRB_uc021xtq.1_Missense_Mutation_p.R167C	NM_000824	NP_001159532	P48167	GLRB_HUMAN	Homo sapiens glycine receptor, beta (GLRB), transcript variant 1, mRNA.	167					nervous system development|neuropeptide signaling pathway|startle response	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|protein binding|receptor activity	p.R167C(2)		central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Glycine(DB00145)	CTTTATTTTTCGTGATGGAGA	0.318000														71			43		0	0	1	0	0
ADH5	128	broad.mit.edu	37	4	100002577	100002577	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:100002577G>T	uc003hui.3	-	3	363	c.283C>A	c.(283-285)Cca>Aca	p.P95T	ADH5_uc003huk.1_Missense_Mutation_p.P95T	NM_000671	NP_000662	P11766	ADHX_HUMAN	Homo sapiens alcohol dehydrogenase 5 (class III), chi polypeptide (ADH5), mRNA.	95					ethanol oxidation|response to redox state		S-(hydroxymethyl)glutathione dehydrogenase activity|alcohol dehydrogenase (NAD) activity|electron carrier activity|fatty acid binding|formaldehyde dehydrogenase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	13				OV - Ovarian serous cystadenocarcinoma(123;2.5e-07)	NADH(DB00157)	CCACACTGTGGGATGTAAAGT	0.358000														12			6		0.000274275	0.000294507	1	1	0
FAHD2A	51011	broad.mit.edu	37	2	96078450	96078450	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:96078450G>A	uc002sur.3	+	6	999	c.820G>A	c.(820-822)Gtc>Atc	p.V274I	AX747836_uc002sut.1_5'Flank	NM_016044	NP_057128	Q96GK7	FAH2A_HUMAN	Homo sapiens fumarylacetoacetate hydrolase domain containing 2A (FAHD2A), mRNA.	274							hydrolase activity|metal ion binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)	8						CCCAGGGGATGTCATCCTAAC	0.557000														14			9		0	0	1	0	0
C3orf64	285203	broad.mit.edu	37	3	69053624	69053624	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:69053624C>T	uc003dnl.3	-	7	930	c.525G>A	c.(523-525)gaG>gaA	p.E175E	C3orf64_uc003dnj.3_5'Flank|C3orf64_uc003dnk.3_Silent_p.E175E|C3orf64_uc011bfw.2_Non-coding_Transcript|C3orf64_uc003dnm.1_Non-coding_Transcript	NM_173654	NP_775925	Q5NDL2	AER61_HUMAN	Homo sapiens chromosome 3 open reading frame 64 (C3orf64), mRNA.	175						extracellular region	transferase activity, transferring glycosyl groups			NS(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	12		Lung NSC(201;0.126)		BRCA - Breast invasive adenocarcinoma(55;4.61e-05)|Epithelial(33;0.000291)|LUSC - Lung squamous cell carcinoma(21;0.0127)|KIRC - Kidney renal clear cell carcinoma(39;0.216)		GGAAAAAGTCCTCCTTAAATC	0.418000														23			19		0	0	1	0	0
PPP1R15A	23645	broad.mit.edu	37	19	49376947	49376947	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:49376947G>T	uc002pky.4	+	1	726	c.457G>T	c.(457-459)Ggt>Tgt	p.G153C		NM_014330	NP_055145	O75807	PR15A_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 15A (PPP1R15A), mRNA.	153	Required for localization in the endoplasmic reticulum.				apoptosis|cell cycle arrest|regulation of translation|response to DNA damage stimulus	endoplasmic reticulum	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1)	23		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)		GACACTGCAAGGTTCTGATAA	0.547000														47			26		1.1804e-14	1.48086e-14	1	1	0
SLC5A8	160728	broad.mit.edu	37	12	101587498	101587498	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:101587498T>C	uc001thz.4	-	4	987	c.597A>G	c.(595-597)ggA>ggG	p.G199G		NM_145913	NP_666018	Q8N695	SC5A8_HUMAN	Homo sapiens solute carrier family 5 (iodide transporter), member 8 (SLC5A8), mRNA.	199					apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CGGATGCAAATCCAGCCACCA	0.393000														83			46		0	0	1	0	0
FAM19A3	284467	broad.mit.edu	37	1	113266618	113266618	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:113266618G>A	uc001ecu.3	+	3	386	c.317G>A	c.(316-318)cGc>cAc	p.R106H	FAM19A3_uc001ecv.3_Intron|FAM19A3_uc010owk.2_Non-coding_Transcript|FAM19A3_uc010owl.2_Non-coding_Transcript	NM_001004440	NP_001004440	Q7Z5A8	F19A3_HUMAN	Homo sapiens family with sequence similarity 19 (chemokine (C-C motif)-like), member A3 (FAM19A3), transcript variant 2, mRNA.	0						extracellular region				lung(4)|ovary(1)	5	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCTGCACTCCGCCTCCTGCTC	0.632000														27			16		0	0	1	0	0
SGOL2	151246	broad.mit.edu	37	2	201434397	201434397	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:201434397C>A	uc002uvw.2	+	5	598	c.485C>A	c.(484-486)aCt>aAt	p.T162N	SGOL2_uc002uvv.4_Missense_Mutation_p.T162N|SGOL2_uc010zhd.1_Missense_Mutation_p.T162N|SGOL2_uc010zhe.1_Missense_Mutation_p.T162N	NM_152524	NP_689737	Q562F6	SGOL2_HUMAN	Homo sapiens shugoshin-like 2 (S. pombe) (SGOL2), transcript variant 1, mRNA.	162					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding			NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						GTTCCATTAACTTCAAATGAT	0.308000														20			14		0.0202918	0.0208584	1	1	0
KSR2	283455	broad.mit.edu	37	12	118199236	118199236	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:118199236G>A	uc001two.2	-	3	534	c.479C>T	c.(478-480)cCg>cTg	p.P160L		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA.	189					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity	p.P221L(2)|p.C160C(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCGGATCCACGGGGTGGGCTC	0.637000														43			6		0	0	1	0	0
SETX	23064	broad.mit.edu	37	9	135204624	135204624	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:135204624G>T	uc004cbk.3	-	9	2544	c.2361C>A	c.(2359-2361)atC>atA	p.I787I	SETX_uc004cbj.3_Silent_p.I406I|SETX_uc010mzt.3_Silent_p.I406I	NM_015046	NP_055861	Q7Z333	SETX_HUMAN	Homo sapiens senataxin (SETX), mRNA.	787					RNA processing|cell death|double-strand break repair	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		ACTTTGCACAGATTTCATCTT	0.328000														74			7		2.0095e-06	2.27092e-06	1	1	0
TRAPPC12	51112	broad.mit.edu	37	2	3469442	3469442	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:3469442C>T	uc002qxm.1	+	8	1958	c.1752C>T	c.(1750-1752)agC>agT	p.S584S	TRAPPC12_uc002qxn.1_Silent_p.S584S|TRAPPC12_uc010ewm.1_Silent_p.S590S	NM_016030	NP_057114	Q8WVT3	TTC15_HUMAN	Homo sapiens trafficking protein particle complex 12 (TRAPPC12), mRNA.	584							binding										AGCTGCTCAGCGGCATCGGCC	0.522000														67			9		0	0	1	0	0
HEATR8	374977	broad.mit.edu	37	1	55168311	55168311	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:55168311C>A	uc010ooe.1	+	20	3781	c.3457C>A	c.(3457-3459)Ctg>Atg	p.L1153M	HEATR8_uc001cxq.3_Intron|HEATR8_uc010ood.1_Missense_Mutation_p.L671M|HEATR8_uc001cxs.2_Non-coding_Transcript|HEATR8_uc010oof.1_Non-coding_Transcript|HEATR8_uc001cxr.1_Non-coding_Transcript|HEATR8_uc009vzq.1_Non-coding_Transcript|HEATR8_uc001cxt.1_Non-coding_Transcript|HEATR8_uc009vzr.1_Missense_Mutation_p.L354M	NM_001039464	NP_001034553	Q68CQ1	HEAT8_HUMAN	Homo sapiens HEAT repeat containing 8 (HEATR8), transcript variant 1, mRNA.	1153						integral to membrane	binding			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TGTGAAGACCCTGTTACGCTG	0.448000														58			5		0.000602214	0.000641151	1	1	0
PNN	5411	broad.mit.edu	37	14	39646666	39646666	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:39646666C>T	uc001wuw.4	+	3	402	c.305C>T	c.(304-306)cCg>cTg	p.P102L		NM_002687	NP_002678	Q9H307	PININ_HUMAN	Homo sapiens pinin, desmosome associated protein (PNN), mRNA.	102	Necessary for interaction with RNPS1.|Necessary for mediating alternative 5' splicing.				cell adhesion|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|desmosome|intermediate filament|nuclear speck	DNA binding|protein binding|structural molecule activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)|stomach(1)	27	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0119)		GAAAGCGACCCGGAGGATGAT	0.413000														20			11		0	0	1	0	0
ZNF761	388561	broad.mit.edu	37	19	53959722	53959722	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:53959722G>T	uc010eqp.3	+	6	2419	c.1961G>T	c.(1960-1962)aGa>aTa	p.R654I	ZNF761_uc010ydy.2_Missense_Mutation_p.R600I|ZNF761_uc002qbt.2_Missense_Mutation_p.R600I	NM_001008401	NP_001008401	Q86XN6	ZN761_HUMAN	Homo sapiens zinc finger protein 761 (ZNF761), mRNA.	654					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		GGACATAGGAGAATTCATACT	0.398000														74			6		1.12685e-05	1.25391e-05	1	1	0
SLC50A1	55974	broad.mit.edu	37	1	155110071	155110071	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155110071G>A	uc001fhj.4	+	3	417	c.317G>A	c.(316-318)gGg>gAg	p.G106E	SLC50A1_uc001fhk.4_Missense_Mutation_p.G51E|SLC50A1_uc001fhl.4_Intron	NM_018845	NP_061333	Q9BRV3	SWET1_HUMAN	Homo sapiens solute carrier family 50 (sugar transporter), member 1 (SLC50A1), transcript variant 1, mRNA.	106					positive regulation of gene expression, epigenetic	Golgi membrane|integral to membrane|plasma membrane	glucoside transmembrane transporter activity			endometrium(1)|lung(1)|ovary(1)|skin(1)	4						ACCCTGCTAGGGGTCCTTCTC	0.547000														40			43		0	0	1	0	0
CNGA3	1261	broad.mit.edu	37	2	98999890	98999890	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:98999890C>T	uc010fij.3	+	4	588	c.447C>T	c.(445-447)aaC>aaT	p.N149N	CNGA3_uc002syt.3_Silent_p.N145N|CNGA3_uc002syu.3_Intron			Q16281	CNGA3_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 3 (CNGA3), transcript variant 1, mRNA.	145					signal transduction|visual perception	integral to membrane	cGMP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						ACACCAGCAACAACACGGAGG	0.582000														22			7		0	0	1	0	0
MINPP1	9562	broad.mit.edu	37	10	89272941	89272941	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:89272941C>A	uc001keu.3	+	2	1346	c.896C>A	c.(895-897)tCt>tAt	p.S299Y	MINPP1_uc001kev.3_Intron|MINPP1_uc009xtf.2_Intron|MINPP1_uc021pvv.1_Missense_Mutation_p.S98Y	NM_004897	NP_004888	Q9UNW1	MINP1_HUMAN	Homo sapiens multiple inositol-polyphosphate phosphatase 1 (MINPP1), transcript variant 1, mRNA.	299					bone mineralization|polyphosphate metabolic process	endoplasmic reticulum lumen	acid phosphatase activity|bisphosphoglycerate 3-phosphatase activity|multiple inositol-polyphosphate phosphatase activity|phosphohistidine phosphatase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|urinary_tract(2)	5		Colorectal(252;0.122)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00123)		GGTGTTAAATCTCCTTGGTGT	0.313000														64			6		0.000274275	0.000294507	1	1	0
ENPP5	59084	broad.mit.edu	37	6	46129422	46129422	+	Missense_Mutation	SNP	A	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:46129422A>T	uc003oxz.1	-	3	1283	c.1075T>A	c.(1075-1077)Ttc>Atc	p.F359I	ENPP5_uc010jzc.1_3'UTR|ENPP5_uc011dvz.1_Missense_Mutation_p.F265I|ENPP5_uc003oya.1_Missense_Mutation_p.F359I	NM_021572	NP_067547	Q9UJA9	ENPP5_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative) (ENPP5), mRNA.	359						extracellular region|integral to membrane	hydrolase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	12						TTCTTTCTGAAGGCAGGACCA	0.418000														347			31		0	0	1	0	0
AMBP	259	broad.mit.edu	37	9	116838953	116838953	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:116838953C>A	uc004bie.4	-	1	448	c.185G>T	c.(184-186)aGg>aTg	p.R62M	AMBP_uc011lxk.2_Missense_Mutation_p.R3M|AMBP_uc010mvc.1_Non-coding_Transcript	NM_001633	NP_001624	P02760	AMBP_HUMAN	Homo sapiens alpha-1-microglobulin/bikunin precursor (AMBP), mRNA.	62					cell adhesion|female pregnancy|heme catabolic process|interspecies interaction between organisms|negative regulation of JNK cascade|negative regulation of immune response|protein-chromophore linkage	extracellular region|plasma membrane	IgA binding|calcium channel inhibitor activity|calcium oxalate binding|heme binding|protein homodimerization activity|serine-type endopeptidase inhibitor activity|transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	11					Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	CACTGTCATCCTGTCCATGAT	0.597000														33			17		1.2644e-06	1.43864e-06	1	1	0
UBL4B	164153	broad.mit.edu	37	1	110655424	110655424	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:110655424C>A	uc001dzc.3	+	0	363	c.268C>A	c.(268-270)Ctg>Atg	p.L90M		NM_203412	NP_981957	Q8N7F7	UBL4B_HUMAN	Homo sapiens ubiquitin-like 4B (UBL4B), mRNA.	90						cytoplasm				endometrium(1)|kidney(1)|large_intestine(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	7		all_cancers(81;1.14e-05)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0236)|all cancers(265;0.0823)|Epithelial(280;0.0917)|Colorectal(144;0.109)|LUSC - Lung squamous cell carcinoma(189;0.134)		GACCCAGCCCCTGTGGCACCA	0.592000														89			9		2.27111e-07	2.61452e-07	1	1	0
TPCN2	219931	broad.mit.edu	37	11	68837924	68837924	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:68837924C>T	uc001oos.2	+	8	972	c.856C>T	c.(856-858)Cgg>Tgg	p.R286W	TPCN2_uc009ysk.1_Non-coding_Transcript|TPCN2_uc001oor.2_Missense_Mutation_p.R201W|TPCN2_uc010rqg.1_Missense_Mutation_p.R286W|TPCN2_uc021qmo.1_Non-coding_Transcript	NM_139075	NP_620714	Q8NHX9	TPC2_HUMAN	Homo sapiens two pore segment channel 2 (TPCN2), mRNA.	286					cellular calcium ion homeostasis|smooth muscle contraction	endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			TTCCAAGAACCGGGCCTATGC	0.468000														57			25		0	0	1	0	0
MSL3	10943	broad.mit.edu	37	X	11783816	11783816	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:11783816G>T	uc004cuw.3	+	8	1244	c.1139G>T	c.(1138-1140)aGc>aTc	p.S380I	MSL3_uc004cuv.1_Missense_Mutation_p.S380I|MSL3_uc011mig.2_Missense_Mutation_p.S231I|MSL3_uc011mih.2_Missense_Mutation_p.S368I|MSL3_uc004cuy.3_Missense_Mutation_p.S214I	NM_078629	NP_006791	Q8N5Y2	MS3L1_HUMAN	Homo sapiens male-specific lethal 3 homolog (Drosophila) (MSL3), transcript variant 1, mRNA.	380					histone H4-K16 acetylation|multicellular organismal development|transcription from RNA polymerase II promoter	MSL complex	DNA binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	19						ACATCCGCCAGCATGCCCAAG	0.607000														66			34		2.42023e-17	3.08103e-17	1	1	0
ADRA1A	148	broad.mit.edu	37	8	26721922	26721922	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:26721922C>T	uc003xfc.1	-	0	1001	c.565G>A	c.(565-567)Gcg>Acg	p.A189T	ADRA1A_uc010lul.1_Missense_Mutation_p.A189T|ADRA1A_uc003xfd.1_Non-coding_Transcript|ADRA1A_uc003xfe.1_Missense_Mutation_p.A189T|ADRA1A_uc010lum.1_Missense_Mutation_p.A189T|ADRA1A_uc003xff.1_Non-coding_Transcript|ADRA1A_uc003xfg.1_Missense_Mutation_p.A189T|ADRA1A_uc003xfh.1_Missense_Mutation_p.A189T|ADRA1A_uc022atd.1_Missense_Mutation_p.A189T	NM_033303	NP_150646	P35348	ADA1A_HUMAN	Homo sapiens adrenergic, alpha-1A-, receptor (ADRA1A), transcript variant 2, mRNA.	189					activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of Rho protein signal transduction|negative regulation of cell proliferation|negative regulation of synaptic transmission, GABAergic|positive regulation of ERK1 and ERK2 cascade|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)	GAGCCCAGCGCTGAGAAGAGC	0.637000														17			4		0	0	1	0	0
CRIPT	9419	broad.mit.edu	37	2	46850956	46850956	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:46850956C>T	uc002rve.3	+	3	288	c.191C>T	c.(190-192)tCt>tTt	p.S64F		NM_014171	NP_054890	Q9P021	CRIPT_HUMAN	Homo sapiens cysteine-rich PDZ-binding protein (CRIPT), mRNA.	64						cell junction|cytoplasm|dendritic spine				kidney(1)|large_intestine(1)|lung(2)	4		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			TGTAAAAGTTCTGTGCACCAA	0.328000														35			18		0	0	1	0	0
CYB561	1534	broad.mit.edu	37	17	61513147	61513147	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:61513147C>T	uc002jaq.3	-	3	468	c.445G>A	c.(445-447)Gtg>Atg	p.V149M	CYB561_uc002jap.3_Missense_Mutation_p.V103M|CYB561_uc002jar.3_Missense_Mutation_p.V103M|CYB561_uc002jas.3_Missense_Mutation_p.V103M|CYB561_uc010ddt.3_Nonsense_Mutation_p.W118*|CYB561_uc002jat.3_Missense_Mutation_p.V103M|CYB561_uc010wpf.2_Missense_Mutation_p.V103M|CYB561_uc010wpg.2_Missense_Mutation_p.V74M	NM_001915	NP_001906	P49447	CY561_HUMAN	Homo sapiens cytochrome b-561 (CYB561), transcript variant 1, mRNA.	103	Cytochrome b561.				electron transport chain|transport	integral to plasma membrane	cytochrome-b5 reductase activity|ferric-chelate reductase activity|metal ion binding			lung(2)|ovary(1)|prostate(1)	4				READ - Rectum adenocarcinoma(1115;0.0689)		AACACCGCCACCAAGCCTGGG	0.557000														14			11		0	0	1	0	0
C3AR1	719	broad.mit.edu	37	12	8212381	8212381	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:8212381C>T	uc001qtv.1	-	1	493	c.401G>A	c.(400-402)cGc>cAc	p.R134H	C3AR1_uc021quj.1_Missense_Mutation_p.R134H	NM_004054	NP_004045	Q16581	C3AR_HUMAN	Homo sapiens complement component 3a receptor 1 (C3AR1), mRNA.	134					blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response	integral to plasma membrane	C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity			breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)	20				Kidney(36;0.0893)		CCCTACATTGCGATGATTCTG	0.478000														34			26		0	0	1	0	0
MAPK12	6300	broad.mit.edu	37	22	50694529	50694529	+	Missense_Mutation	SNP	G	A	A	rs2230823	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:50694529G>A	uc003bkm.1	-	6	755	c.604C>T	c.(604-606)Cgc>Tgc	p.R202C	MAPK12_uc003bko.2_Missense_Mutation_p.R112C|MAPK12_uc003bkl.1_Missense_Mutation_p.R192C|MAPK12_uc003bkq.2_Missense_Mutation_p.R21C	NM_002969	NP_002960	P53778	MK12_HUMAN	Homo sapiens mitogen-activated protein kinase 12 (MAPK12), mRNA.	202	Protein kinase.			MR -> IA (in Ref. 1; CAA55984).	DNA damage induced protein phosphorylation|Ras protein signal transduction|cell cycle arrest|muscle organ development|myoblast differentiation|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation	mitochondrion|nucleoplasm	ATP binding|MAP kinase activity|magnesium ion binding|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	8		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TGCGTGTAGCGCATCCAATTC	0.612000														28			21		0	0	1	0	0
OTUD4	54726	broad.mit.edu	37	4	146059313	146059313	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:146059313C>T	uc003ika.4	-	20	2557	c.2419G>A	c.(2419-2421)Gaa>Aaa	p.E807K		NM_001102653	NP_001096123	Q01804	OTUD4_HUMAN	Homo sapiens OTU domain containing 4 (OTUD4), transcript variant 3, mRNA.	871							protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					ACTGGATTTTCTATGAATCCC	0.433000														27			21		0	0	1	0	0
UNC13D	201294	broad.mit.edu	37	17	73835975	73835975	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:73835975C>T	uc002jpp.3	-	11	1380	c.1000G>A	c.(1000-1002)Gtc>Atc	p.V334I	UNC13D_uc010wsk.1_Missense_Mutation_p.V334I|UNC13D_uc002jpq.1_5'UTR|UNC13D_uc010dgq.1_Missense_Mutation_p.V131I	NM_199242	NP_954712	Q70J99	UN13D_HUMAN	Homo sapiens unc-13 homolog D (C. elegans) (UNC13D), mRNA.	334	Interaction with RAB27A.				positive regulation of exocytosis|regulation of mast cell degranulation	exocytic vesicle|late endosome|lysosome|membrane|recycling endosome	protein binding	p.V334I(2)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			AGAAAGAGGACGGTGGCAGCC	0.667000									Familial Hemophagocytic Lymphohistiocytosis					43			14		0	0	1	0	0
ATP2A3	489	broad.mit.edu	37	17	3832730	3832730	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:3832730C>T	uc002fwy.2	-	18	2927	c.2754G>A	c.(2752-2754)gaG>gaA	p.E918E	ATP2A3_uc010ckn.2_Silent_p.E20E|ATP2A3_uc002fwz.2_Silent_p.E918E|ATP2A3_uc002fxa.2_Silent_p.E918E|ATP2A3_uc002fxb.2_Silent_p.E918E|ATP2A3_uc002fxc.2_Silent_p.E918E|ATP2A3_uc002fxd.2_Silent_p.E918E|ATP2A3_uc002fwx.2_Silent_p.E918E	NM_174953	NP_777613	Q93084	AT2A3_HUMAN	Homo sapiens ATPase, Ca++ transporting, ubiquitous (ATP2A3), transcript variant 5, mRNA.	918					ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		GCGACTGGTTCTCCGAGACGC	0.682000														2			5		0	0	1	0	0
RBM6	10180	broad.mit.edu	37	3	50005258	50005258	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:50005258G>T	uc003cyc.3	+	2	648	c.400G>T	c.(400-402)Gac>Tac	p.D134Y	RBM6_uc011bdh.2_Non-coding_Transcript|RBM6_uc010hlc.2_Intron|RBM6_uc003cyd.3_Intron|RBM6_uc011bdi.2_Intron|RBM6_uc003cye.3_Intron|RBM6_uc010hlf.2_Intron|RBM6_uc010hld.2_Intron|RBM6_uc010hle.2_Intron	NM_005777	NP_001161054	P78332	RBM6_HUMAN	Homo sapiens RNA binding motif protein 6 (RBM6), transcript variant 1, mRNA.	134					RNA processing	nucleus	DNA binding|RNA binding|nucleotide binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		ACCACCTATGGACTATAGGGG	0.478000														84			46		1.23103e-26	1.61485e-26	1	1	0
DNAH3	55567	broad.mit.edu	37	16	20975279	20975279	+	Silent	SNP	C	T	T	rs148736888		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:20975279C>T	uc010vbe.2	-	52	9927	c.9927G>A	c.(9925-9927)tcG>tcA	p.S3309S	DNAH3_uc010vbd.2_Silent_p.S744S	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	3309					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TGGCCAGGTCCGAGATACAAA	0.498000														55			32		0	0	1	0	0
DHX38	9785	broad.mit.edu	37	16	72141442	72141442	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:72141442A>C	uc002fcb.3	+	19	3159	c.2804A>C	c.(2803-2805)aAc>aCc	p.N935T	DHX38_uc010vmp.2_Missense_Mutation_p.N247T	NM_014003	NP_054722	Q92620	PRP16_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 38 (DHX38), mRNA.	935					mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	p.N935K(1)		endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				GCCCTGGACAACACAGGTGAG	0.592000														41			13		0	0	1	0	0
PDCL3	79031	broad.mit.edu	37	2	101185443	101185443	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:101185443G>A	uc002tao.2	+	2	296	c.184G>A	c.(184-186)Gag>Aag	p.E62K		NM_024065	NP_076970	Q9H2J4	PDCL3_HUMAN	Homo sapiens phosducin-like 3 (PDCL3), mRNA.	62					apoptosis|interspecies interaction between organisms	cytoplasm	protein binding			endometrium(3)|large_intestine(2)|liver(1)|lung(6)	12						TCATGAAGACGAGTTTAATGA	0.363000														48			28		0	0	1	0	0
C18orf8	29919	broad.mit.edu	37	18	21095831	21095831	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:21095831G>T	uc021uie.1	+	5	541	c.420G>T	c.(418-420)gaG>gaT	p.E140D	C18orf8_uc010xau.1_5'UTR|C18orf8_uc010xav.1_Missense_Mutation_p.E92D|C18orf8_uc010xaw.1_5'UTR	NM_013326	NP_037458	Q96DM3	MIC1_HUMAN	Homo sapiens chromosome 18 open reading frame 8 (C18orf8), mRNA.	140										endometrium(9)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	21	all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127)					TATTACCAGAGAAACGGAGTC	0.478000											OREG0024894	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		63			26		9.57634e-11	1.16131e-10	1	1	0
N4BP2	55728	broad.mit.edu	37	4	40108548	40108548	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:40108548G>A	uc003guy.4	+	4	1740	c.1402G>A	c.(1402-1404)Gtc>Atc	p.V468I	N4BP2_uc010ifq.3_Missense_Mutation_p.V388I|N4BP2_uc010ifr.3_Missense_Mutation_p.V388I	NM_018177	NP_060647	Q86UW6	N4BP2_HUMAN	Homo sapiens NEDD4 binding protein 2 (N4BP2), mRNA.	468						cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						TCCAAGTGGAGTCATTCTTAG	0.318000														38			18		0	0	1	0	0
GABRA1	2554	broad.mit.edu	37	5	161317903	161317903	+	Splice_Site	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:161317903G>A	uc010jiw.3	+	9	1172	c.704_splice	c.e9-1	p.G235_splice	GABRA1_uc010jix.3_Splice_Site_p.G235_splice|GABRA1_uc010jiy.3_Splice_Site_p.G235_splice|GABRA1_uc003lyx.4_Splice_Site_p.G235_splice|GABRA1_uc010jiz.3_Splice_Site_p.G235_splice|GABRA1_uc010jja.3_Splice_Site_p.G235_splice|GABRA1_uc010jjb.3_Splice_Site_p.G235_splice	NM_000806	NP_001121120	P14867	GBRA1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 1 (GABRA1), transcript variant 1, mRNA.	235					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	TTACTTCTCAGGAGAATATGT	0.363000														36			29		0	0	1	0	0
PTPRK	5796	broad.mit.edu	37	6	128330384	128330384	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:128330384G>T	uc003qbk.3	-	13	2588	c.2221C>A	c.(2221-2223)Cca>Aca	p.P741T	PTPRK_uc010kfc.3_Missense_Mutation_p.P742T|PTPRK_uc003qbj.3_Missense_Mutation_p.P742T|PTPRK_uc011ebu.2_Missense_Mutation_p.P742T|PTPRK_uc003qbl.1_Missense_Mutation_p.P612T|PTPRK_uc011ebv.1_Missense_Mutation_p.P742T	NM_002844	NP_002835	Q15262	PTPRK_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, K (PTPRK), transcript variant 2, mRNA.	741					cell migration|cellular response to UV|cellular response to reactive oxygen species|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		GCGGGATCTGGGATCACTTCT	0.373000														97			7		0.00448238	0.0046769	1	1	0
PAQR7	164091	broad.mit.edu	37	1	26189632	26189632	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:26189632C>T	uc021ojm.1	-	0	699	c.699G>A	c.(697-699)acG>acA	p.T233T	PAQR7_uc001bkx.3_Silent_p.T233T	NM_178422	NP_848509	Q86WK9	MPRA_HUMAN	Homo sapiens progestin and adipoQ receptor family member VII (PAQR7), mRNA.	233					cell differentiation|multicellular organismal development|oogenesis	integral to membrane|plasma membrane	receptor activity|steroid binding			breast(3)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	9		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.16e-25)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000724)|BRCA - Breast invasive adenocarcinoma(304;0.000965)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0136)|READ - Rectum adenocarcinoma(331;0.0649)		CTGGATCATCCGTGGTGGGGT	0.597000														25			22		0	0	1	0	0
ZNF317	57693	broad.mit.edu	37	19	9270912	9270912	+	Silent	SNP	C	T	T	rs144830860		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9270912C>T	uc002mku.3	+	6	896	c.591C>T	c.(589-591)cgC>cgT	p.R197R	ZNF317_uc002mkv.3_Silent_p.R56R|ZNF317_uc002mkw.3_Silent_p.R165R|ZNF317_uc002mkx.3_Silent_p.R112R|ZNF317_uc002mky.3_Silent_p.R80R	NM_020933	NP_065984	Q96PQ6	ZN317_HUMAN	Homo sapiens zinc finger protein 317 (ZNF317), transcript variant 1, mRNA.	197					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	27						ATCACCGCCGCGACTATGGGG	0.542000														16			8		0	0	1	0	0
BUD13	84811	broad.mit.edu	37	11	116628595	116628595	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:116628595C>T	uc001ppn.3	-	7	1605	c.1571G>A	c.(1570-1572)cGc>cAc	p.R524H	BUD13_uc001ppo.3_Missense_Mutation_p.R390H	NM_032725	NP_116114	Q9BRD0	BUD13_HUMAN	Homo sapiens BUD13 homolog (S. cerevisiae) (BUD13), transcript variant 1, mRNA.	524								p.R524S(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|pancreas(2)|skin(1)|urinary_tract(1)	22	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154)		ATCAATATAGCGGGCCAGAGG	0.488000														131			13		0	0	1	0	0
EBNA1BP2	10969	broad.mit.edu	37	1	43630358	43630358	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:43630358C>T	uc010ojx.2	-	8	1140	c.991G>A	c.(991-993)Gct>Act	p.A331T	EBNA1BP2_uc001cio.3_Missense_Mutation_p.A331T|EBNA1BP2_uc001cin.3_Missense_Mutation_p.A276T	NM_001159936	NP_006815	Q99848	EBP2_HUMAN	Homo sapiens EBNA1 binding protein 2 (EBNA1BP2), transcript variant 1, mRNA.	276					ribosome biogenesis	membrane fraction|nucleolus	protein binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)	16	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CTGCCATGAGCTGTCTTGGCC	0.537000														38			21		0	0	1	0	0
TRIML2	205860	broad.mit.edu	37	4	189013034	189013034	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:189013034T>G	uc011cle.1	-	7	1104	c.882A>C	c.(880-882)agA>agC	p.R294S	TRIML2_uc003izj.1_Missense_Mutation_p.R47S|TRIML2_uc003izk.1_Missense_Mutation_p.R27S|TRIML2_uc003izl.2_Missense_Mutation_p.R219S	NM_173553	NP_775824	Q8N7C3	TRIMM_HUMAN	Homo sapiens tripartite motif family-like 2 (TRIML2), mRNA.	219	B30.2/SPRY.						ligase activity			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		ATCTCATAGTTCTCAGGTCCT	0.512000														41			16		0	0	1	0	0
F5	2153	broad.mit.edu	37	1	169495202	169495202	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:169495202T>G	uc001ggg.1	-	17	5798	c.5653A>C	c.(5653-5655)Aac>Cac	p.N1885H		NM_000130	NP_000121	P12259	FA5_HUMAN	Homo sapiens coagulation factor V (proaccelerin, labile factor) (F5), mRNA.	1885	F5/8 type A 3.|Plastocyanin-like 6.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	ACCTCTGTGTTTAGGAGCCAC	0.383000														164			13		0	0	1	0	0
TNFSF8	944	broad.mit.edu	37	9	117692400	117692400	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:117692400C>T	uc004bji.2	-	0	476	c.184G>A	c.(184-186)Gtt>Att	p.V62I	TNFSF8_uc022bmi.1_Missense_Mutation_p.V62I	NM_001244	NP_001235	P32971	TNFL8_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 8 (TNFSF8), transcript variant 1, mRNA.	62					cell proliferation|cell-cell signaling|immune response|induction of apoptosis|signal transduction	extracellular space|integral to plasma membrane	cytokine activity|tumor necrosis factor receptor binding			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(3)|urinary_tract(1)	12						GTCCTCTGAACGACCAACACC	0.507000														67			26		0	0	1	0	0
MAEA	10296	broad.mit.edu	37	4	1316186	1316186	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:1316186G>A	uc003gda.3	+	3	504	c.474G>A	c.(472-474)gaG>gaA	p.E158E	MAEA_uc010ibs.1_Intron|MAEA_uc003gdd.3_Intron|MAEA_uc003gdb.3_Intron|MAEA_uc011bvb.2_Silent_p.E90E|MAEA_uc003gdc.3_Intron|MAEA_uc011bvc.2_Silent_p.E157E|MAEA_uc011bvd.2_Silent_p.E110E|MAEA_uc010ibt.3_Intron	NM_001017405	NP_001017405	Q7L5Y9	MAEA_HUMAN	Homo sapiens macrophage erythroblast attacher (MAEA), transcript variant 1, mRNA.	158					cell adhesion|cell cycle|cell division|erythrocyte maturation|negative regulation of myeloid cell apoptosis|regulation of mitotic cell cycle	actomyosin contractile ring|integral to plasma membrane|membrane fraction|nuclear matrix|spindle	actin binding			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(23;0.0201)			TGAATATTGAGATGTTCCTGA	0.597000														83			51		0	0	1	0	0
CELSR2	1952	broad.mit.edu	37	1	109793483	109793483	+	Missense_Mutation	SNP	C	T	T	rs41279702		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:109793483C>T	uc001dxa.4	+	0	843	c.782C>T	c.(781-783)gCg>gTg	p.A261V		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 2 (flamingo homolog, Drosophila) (CELSR2), mRNA.	261	Cadherin 1.				Wnt receptor signaling pathway|dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent	cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		AGGGTCACGGCGCAGGACCAC	0.587000														22			33		0	0	1	0	0
CELSR1	9620	broad.mit.edu	37	22	46930540	46930540	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:46930540G>A	uc003bhw.1	-	0	2528	c.2528C>T	c.(2527-2529)aCc>aTc	p.T843I		NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila) (CELSR1), mRNA.	843	Cadherin 6.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		GGTGTACATGGTGCCACTGTC	0.582000														44			22		0	0	1	0	0
OR8J1	219477	broad.mit.edu	37	11	56128531	56128531	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:56128531C>A	uc010rjh.2	+	0	841	c.809C>A	c.(808-810)aCt>aAt	p.T270N		NM_001005205	NP_001005205	Q8NGP2	OR8J1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily J, member 1 (OR8J1), mRNA.	270					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T270T(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47	Esophageal squamous(21;0.00448)					TCACTGGATACTGATGATAAG	0.423000														87			64		8.33888e-18	1.06543e-17	1	1	0
CD68	968	broad.mit.edu	37	17	7484215	7484215	+	Splice_Site	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7484215G>A	uc002ghv.3	+	5	952	c.761_splice	c.e5-1	p.Q254_splice	CD68_uc002ghu.3_Splice_Site_p.Q227_splice|MPDU1_uc010vub.2_5'Flank|MPDU1_uc002ghw.3_5'Flank|MPDU1_uc002ghx.3_5'Flank|MPDU1_uc010vuc.1_5'Flank	NM_001251	NP_001242	P34810	CD68_HUMAN	Homo sapiens CD68 molecule (CD68), transcript variant 1, mRNA.	254			Q -> K (in dbSNP:rs25679).			endosome membrane|integral to membrane|lysosomal membrane|membrane fraction|plasma membrane				endometrium(1)|lung(1)|skin(1)	3						CTCCTCCAGAGTGGACATTCT	0.547000														31			26		0	0	1	0	0
LMNB2	84823	broad.mit.edu	37	19	2434897	2434897	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:2434897C>A	uc002lvy.3	-	5	897	c.810G>T	c.(808-810)aaG>aaT	p.K270N		NM_032737	NP_116126	Q03252	LMNB2_HUMAN	Homo sapiens lamin B2 (LMNB2), mRNA.	270	Coil 2.|Rod.					nuclear inner membrane	structural molecule activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGAGCTCAGCTTGGCGCTGT	0.746000														18			3		0.014758	0.0151755	1	1	0
RPAP2	79871	broad.mit.edu	37	1	92769570	92769570	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:92769570G>A	uc001dot.2	+	3	380	c.271G>A	c.(271-273)Gtg>Atg	p.V91M	RPAP2_uc009wdh.2_Non-coding_Transcript	NM_024813	NP_079089	Q8IXW5	RPAP2_HUMAN	Homo sapiens RNA polymerase II associated protein 2 (RPAP2), mRNA.	91						integral to membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	22		all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222)		all cancers(265;0.00647)|GBM - Glioblastoma multiforme(16;0.0234)|Epithelial(280;0.115)		CAGTGATGTCGTGGATGAACG	0.348000														84			6		0	0	1	0	0
CDHR2	54825	broad.mit.edu	37	5	176011940	176011940	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:176011940C>A	uc021yie.1	+	18	2932	c.2658C>A	c.(2656-2658)gcC>gcA	p.A886A	CDHR2_uc003mem.2_Silent_p.A886A|CDHR2_uc003men.1_Silent_p.A886A	NM_001171976	NP_060145	Q9BYE9	CDHR2_HUMAN	Homo sapiens cadherin-related family member 2 (CDHR2), transcript variant 1, mRNA.	886	Cadherin 8.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						ACTACGAGGCCTGTGACCTGG	0.627000														4			5		0.0215528	0.0220531	1	1	0
RBM42	79171	broad.mit.edu	37	19	36124698	36124698	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:36124698C>T	uc002oan.3	+	6	870	c.794C>T	c.(793-795)gCt>gTt	p.A265V	RBM42_uc002oap.3_Missense_Mutation_p.A235V|RBM42_uc002oaq.3_Missense_Mutation_p.A236V	NM_024321	NP_077297	Q9BTD8	RBM42_HUMAN	Homo sapiens RNA binding motif protein 42 (RBM42), mRNA.	265	Necessary for interaction with HNRNPK (By similarity).|Pro-rich.					cytoplasm|nucleus	RNA binding|nucleotide binding			breast(1)|endometrium(3)|large_intestine(7)|lung(9)|prostate(1)	21	all_lung(56;1.58e-07)|Lung NSC(56;2.43e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			GCTAGCGCGGCTGTGGCCGTG	0.721000														2			3		0	0	1	0	0
ABHD2	11057	broad.mit.edu	37	15	89719110	89719110	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:89719110C>T	uc002bnj.2	+	9	1524	c.606C>T	c.(604-606)gtC>gtT	p.V202V	ABHD2_uc002bnk.2_Silent_p.V202V	NM_007011	NP_690888	P08910	ABHD2_HUMAN	Homo sapiens abhydrolase domain containing 2 (ABHD2), transcript variant 1, mRNA.	202						integral to membrane	carboxylesterase activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|soft_tissue(1)	23	Lung NSC(78;0.0472)|all_lung(78;0.089)					CCCAGCTGGTCGTCGTGGGCT	0.537000														35			33		0	0	1	0	0
SRMS	6725	broad.mit.edu	37	20	62178752	62178752	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:62178752G>A	uc002yfi.1	-	0	106	c.65C>T	c.(64-66)gCg>gTg	p.A22V		NM_080823	NP_543013	Q9H3Y6	SRMS_HUMAN	Homo sapiens src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites (SRMS), mRNA.	22							ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1)	19	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			CTCGCCGCCCGCCGGCCAGAT	0.716000														59			58		0	0	1	0	0
STIL	6491	broad.mit.edu	37	1	47767270	47767270	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:47767270A>G	uc001crd.1	-	4	571	c.416T>C	c.(415-417)aTa>aCa	p.I139T	TAL1_uc001crb.1_Intron|STIL_uc010omn.1_Missense_Mutation_p.I139T|STIL_uc010omo.1_Missense_Mutation_p.I139T|STIL_uc001crc.1_Missense_Mutation_p.I139T|STIL_uc001cre.1_Missense_Mutation_p.I139T|STIL_uc001crg.1_Missense_Mutation_p.I139T	NM_001048166	NP_001041631	Q15468	STIL_HUMAN	Homo sapiens SCL/TAL1 interrupting locus (STIL), transcript variant 1, mRNA.	139					cell proliferation|multicellular organismal development	centrosome|cytosol				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				ACTGTGAACTATCATTTCTCT	0.368000														80			9		0	0	1	0	0
NRSN2	80023	broad.mit.edu	37	20	334193	334193	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:334193G>A	uc002wdi.4	+	3	1067	c.529G>A	c.(529-531)Gcc>Acc	p.A177T		NM_024958	NP_079234	Q9GZP1	NRSN2_HUMAN	Homo sapiens neurensin 2 (NRSN2), mRNA.	177						integral to membrane|plasma membrane|transport vesicle				endometrium(1)|large_intestine(2)|lung(4)|urinary_tract(1)	8		all_cancers(10;0.0834)				TTTCCGCAATGCCAGTGGCCA	0.617000														107			14		0	0	1	0	0
KIAA1217	56243	broad.mit.edu	37	10	24833163	24833163	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:24833163C>T	uc001iru.4	+	18	5367	c.4964C>T	c.(4963-4965)aCt>aTt	p.T1655I	KIAA1217_uc001irs.3_Intron|KIAA1217_uc001irt.4_Intron|KIAA1217_uc010qcy.2_Intron|KIAA1217_uc010qcz.2_Intron|KIAA1217_uc001irw.3_Intron|KIAA1217_uc001irz.3_Intron|KIAA1217_uc001irx.3_Missense_Mutation_p.T1338I|KIAA1217_uc001iry.3_Intron|KIAA1217_uc001isa.1_Missense_Mutation_p.T491I	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	1655					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						ATTTCAAGAACTGATGAAATT	0.453000														47			24		0	0	1	0	0
TMPPE	643853	broad.mit.edu	37	3	33134502	33134502	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:33134502G>A	uc003cfk.2	-	1	1398	c.1186C>T	c.(1186-1188)Cag>Tag	p.Q396*	GLB1_uc003cfh.1_Intron|GLB1_uc003cfi.1_Intron|GLB1_uc003cfj.1_Intron|GLB1_uc011axk.1_Intron|TMPPE_uc011axl.1_Nonsense_Mutation_p.Q259*|TMPPE_uc021wux.1_Nonsense_Mutation_p.Q396*	NM_001039770	NP_001129710	Q6ZT21	TMPPE_HUMAN	Homo sapiens transmembrane protein with metallophosphoesterase domain (TMPPE), transcript variant 1, mRNA.	396						integral to membrane	metal ion binding			breast(1)|large_intestine(5)|lung(6)|prostate(1)	13						GGGAAGATCTGCCCAGCATGT	0.552000														42			7		0	0	1	0	0
MUC2	4583	broad.mit.edu	37	11	1077647	1077647	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:1077647G>T	uc001lsx.1	+	2	424	c.397G>T	c.(397-399)Gcc>Tcc	p.A133S		NM_002457	NP_002448	Q02817	MUC2_HUMAN	Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA.	133	VWFD 1.					inner mucus layer|outer mucus layer	protein binding	p.D132N(1)		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)	GAAGAGCGATGCCTACACCAA	0.672000														3			7		5.18039e-06	5.80246e-06	1	1	0
EPPK1	83481	broad.mit.edu	37	8	144940549	144940549	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:144940549C>T	uc003zaa.1	-	0	6886	c.6873G>A	c.(6871-6873)gtG>gtA	p.V2291V		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	2291						cytoplasm|cytoskeleton	protein binding|structural molecule activity	p.V2291M(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CGCCGCCCACCACGCCCGCGG	0.721000														42			7		0	0	1	0	0
BCKDK	10295	broad.mit.edu	37	16	31123215	31123215	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:31123215G>A	uc002eaw.4	+	10	1277	c.961G>A	c.(961-963)Gct>Act	p.A321T	BCKDK_uc002eav.4_Missense_Mutation_p.A321T|BCKDK_uc010cai.3_Missense_Mutation_p.A291T	NM_005881	NP_005872	O14874	BCKD_HUMAN	Homo sapiens branched chain ketoacid dehydrogenase kinase (BCKDK), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	321	Histidine kinase.				branched chain family amino acid catabolic process|peptidyl-histidine phosphorylation	mitochondrial alpha-ketoglutarate dehydrogenase complex	ATP binding|[3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)] kinase activity|protein binding|protein serine/threonine kinase activity|two-component sensor activity			breast(1)|stomach(1)	2						TGGAGGAATCGCTCACAAAGA	0.567000														44			30		0	0	1	0	0
TNFRSF6B	8771	broad.mit.edu	37	20	62329814	62329814	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:62329814G>A	uc002yfy.3	+	6	1429	c.801G>A	c.(799-801)gcG>gcA	p.A267A	RTEL1_uc002yfw.3_Non-coding_Transcript|TNFRSF6B_uc002yfz.3_Silent_p.A267A	NM_003823	NP_003814	O95407	TNF6B_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 6b, decoy (TNFRSF6B), mRNA.	267					anti-apoptosis|apoptosis	extracellular region|soluble fraction	protein binding|receptor activity			central_nervous_system(1)|lung(2)|skin(1)	4	all_cancers(38;4.66e-12)|all_epithelial(29;2.56e-13)|Lung NSC(23;1.06e-08)|all_lung(23;3.34e-08)		Epithelial(9;1.78e-08)|all cancers(9;7.89e-08)|OV - Ovarian serous cystadenocarcinoma(5;0.00504)			TCCTGGGGGCGCAGGACGGGG	0.756000														6			4		0	0	1	0	0
ZNF213	7760	broad.mit.edu	37	16	3191053	3191053	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:3191053G>A	uc010uws.2	+	5	1532	c.1085G>A	c.(1084-1086)cGc>cAc	p.R362H	ZNF213_uc002cud.3_Non-coding_Transcript|ZNF213_uc010btf.3_3'UTR|ZNF213_uc010bth.3_Missense_Mutation_p.R362H|ZNF213_uc010uwt.2_3'UTR	NM_004220	NP_004211	O14771	ZN213_HUMAN	Homo sapiens zinc finger protein 213 (ZNF213), transcript variant 1, mRNA.	362					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	16						GACCTGGTGCGCCACCAAGGC	0.677000														18			12		0	0	1	0	0
PMEL	6490	broad.mit.edu	37	12	56351341	56351341	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56351341C>T	uc001sir.3	-	5	1409	c.746G>A	c.(745-747)gGc>gAc	p.G249D	PMEL_uc001siq.3_Missense_Mutation_p.G249D|PMEL_uc010spx.2_Missense_Mutation_p.G163D|PMEL_uc001sip.3_Missense_Mutation_p.G249D	NM_006928	NP_008859	P40967	PMEL_HUMAN	Homo sapiens premelanosome protein (PMEL), transcript variant 3, mRNA.	249					melanin biosynthetic process|melanosome organization	Golgi apparatus|endoplasmic reticulum membrane|extracellular region|integral to membrane|melanosome|multivesicular body membrane|plasma membrane	protein binding			NS(1)|breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						AGCCAGATAGCCACTGGGGTC	0.562000														130			10		0	0	1	0	0
CACNA2D1	781	broad.mit.edu	37	7	81588629	81588629	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:81588629G>A	uc003uhr.1	-	37	3377	c.3121C>T	c.(3121-3123)Cga>Tga	p.R1041*	CACNA2D1_uc011kgy.1_Nonsense_Mutation_p.R253*	NM_000722	NP_000713	P54289	CA2D1_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 1 (CACNA2D1), mRNA.	1053						voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	GGCCCTTTTCGGTATCTGGGT	0.358000														45			54		0	0	1	0	0
C5orf54	63920	broad.mit.edu	37	5	159822439	159822439	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:159822439G>A	uc003lye.1	-	1	523	c.59C>T	c.(58-60)aCg>aTg	p.T20M	C5orf54_uc003lyf.1_Missense_Mutation_p.T20M|C5orf54_uc021yhc.1_Missense_Mutation_p.T20M	NM_022090	NP_071373	Q8IZ13	CE054_HUMAN	Homo sapiens chromosome 5 open reading frame 54 (C5orf54), mRNA.	20										breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	12						atctacttccgttgtacaggt	0.433000														117			7		0	0	1	0	0
RBM27	54439	broad.mit.edu	37	5	145664218	145664218	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:145664218C>T	uc003lnz.4	+	19	3188	c.3022C>T	c.(3022-3024)Cgg>Tgg	p.R1008W		NM_018989	NP_061862	Q9P2N5	RBM27_HUMAN	Homo sapiens RNA binding motif protein 27 (RBM27), mRNA.	1008					mRNA processing	cytoplasm|nuclear speck	RNA binding|nucleotide binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TAAAGACCGTCGGCTACAGAT	0.373000														71			29		0	0	1	0	0
STYK1	55359	broad.mit.edu	37	12	10772820	10772820	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:10772820A>C	uc001qys.2	-	10	1713	c.1192T>G	c.(1192-1194)Ttg>Gtg	p.L398V		NM_018423	NP_060893	Q6J9G0	STYK1_HUMAN	Homo sapiens serine/threonine/tyrosine kinase 1 (STYK1), mRNA.	398						integral to membrane|plasma membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	26						GGTACCACCAACTCTGGTACT	0.532000										HNSCC(73;0.22)				130			64		0	0	1	0	0
FAM171A1	221061	broad.mit.edu	37	10	15256192	15256192	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:15256192G>T	uc001iob.3	-	7	1402	c.1395C>A	c.(1393-1395)ccC>ccA	p.P465P		NM_001010924	NP_001010924	Q5VUB5	F1711_HUMAN	Homo sapiens family with sequence similarity 171, member A1 (FAM171A1), mRNA.	465			P -> S (in dbSNP:rs3814165).			integral to membrane				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						TTGCCTTTAAGGGAAAAACCT	0.463000														56			5		0.0215528	0.0220531	1	1	0
TEK	7010	broad.mit.edu	37	9	27157963	27157963	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:27157963G>A	uc011lno.2	+	1	629	c.187G>A	c.(187-189)Gcc>Acc	p.A63T	TEK_uc010mjc.1_Intron|TEK_uc011lnn.1_Missense_Mutation_p.A63T|TEK_uc003zqi.4_Missense_Mutation_p.A63T|TEK_uc011lnp.2_Intron|TEK_uc003zqj.1_Missense_Mutation_p.A40T	NM_000459	NP_000450	Q02763	TIE2_HUMAN	Homo sapiens TEK tyrosine kinase, endothelial (TEK), mRNA.	63	Ig-like C2-type 1.				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		GGACTTTGAAGCCTTAATGAA	0.478000														36			26		0	0	1	0	0
ABCA9	10350	broad.mit.edu	37	17	67004269	67004269	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:67004269C>T	uc002jhu.3	-	23	3398	c.3255G>A	c.(3253-3255)atG>atA	p.M1085I	ABCA9_uc010dez.3_Missense_Mutation_p.M1085I	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 9 (ABCA9), mRNA.	1085					transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					CCATTATTTGCATTAGCAGGA	0.383000														70			30		0	0	1	0	0
VCP	7415	broad.mit.edu	37	9	35068295	35068295	+	Missense_Mutation	SNP	C	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:35068295C>G	uc003zvy.2	-	1	471	c.82G>C	c.(82-84)Gtt>Ctt	p.V28L	VCP_uc010mkh.1_5'UTR|VCP_uc010mki.1_5'UTR	NM_007126	NP_009057	P55072	TERA_HUMAN	Homo sapiens valosin containing protein (VCP), mRNA.	28					ER-associated protein catabolic process|activation of caspase activity|double-strand break repair|endoplasmic reticulum unfolded protein response|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|retrograde protein transport, ER to cytosol	cytosol|endoplasmic reticulum|microsome|nucleus|proteasome complex	ATP binding|ATPase activity|lipid binding|polyubiquitin binding|protein domain specific binding|protein phosphatase binding			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GCTTCATCAACAATTAACCGA	0.453000														342			20		0	0	1	0	0
SLC7A11	23657	broad.mit.edu	37	4	139140512	139140512	+	Silent	SNP	C	T	T	rs143734527	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:139140512C>T	uc021xrw.1	-	4	934	c.654G>A	c.(652-654)acG>acA	p.T218T		NM_014331	NP_055146	Q9UPY5	XCT_HUMAN	Homo sapiens solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11 (SLC7A11), mRNA.	218					blood coagulation|cellular nitrogen compound metabolic process|leukocyte migration|response to toxin	integral to membrane|plasma membrane	cystine:glutamate antiporter activity|protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)	18	all_hematologic(180;0.166)				L-Cystine(DB00138)|L-Glutamic Acid(DB00142)|Sulfasalazine(DB00795)	TAAAGTTCTGCGTTTGACCTG	0.388000														47			29		0	0	1	0	0
KCNQ5	56479	broad.mit.edu	37	6	73713638	73713638	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:73713638C>A	uc011dyh.2	+	1	753	c.406C>A	c.(406-408)Ctt>Att	p.L136I	KCNQ5_uc003pgj.4_Missense_Mutation_p.L136I|KCNQ5_uc011dyi.2_Missense_Mutation_p.L136I|KCNQ5_uc010kat.3_Missense_Mutation_p.L136I|KCNQ5_uc003pgk.3_Missense_Mutation_p.L136I|KCNQ5_uc011dyj.2_Missense_Mutation_p.L136I|KCNQ5_uc011dyk.2_5'UTR	NM_001160133	NP_001153605	Q9NR82	KCNQ5_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 5 (KCNQ5), transcript variant 4, mRNA.	136					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity	p.L136I(2)		breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		CAGTTTTCTCCTTGTCTTTGG	0.378000														45			6		2.0095e-06	2.27092e-06	1	1	0
DIP2B	57609	broad.mit.edu	37	12	51089654	51089654	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:51089654C>T	uc001rwv.3	+	15	1993	c.1837C>T	c.(1837-1839)Cgg>Tgg	p.R613W	DIP2B_uc009zlt.3_Missense_Mutation_p.R43W	NM_173602	NP_775873	Q9P265	DIP2B_HUMAN	Homo sapiens DIP2 disco-interacting protein 2 homolog B (Drosophila) (DIP2B), mRNA.	613						nucleus	catalytic activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						AGTAAAATGTCGGGACTTGCA	0.398000														79			41		0	0	1	0	0
MICAL3	57553	broad.mit.edu	37	22	18324748	18324748	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:18324748C>T	uc002zng.4	-	19	2994	c.2641G>A	c.(2641-2643)Gcc>Acc	p.A881T	MICAL3_uc011agl.2_Missense_Mutation_p.A881T|MICAL3_uc002znh.2_Missense_Mutation_p.A881T|MICAL3_uc002znj.1_Missense_Mutation_p.A609T|MICAL3_uc002znk.1_Missense_Mutation_p.A881T|MICAL3_uc002znl.1_Missense_Mutation_p.A514T|MICAL3_uc021wkr.1_Non-coding_Transcript	NM_015241	NP_056056	Q7RTP6	MICA3_HUMAN	Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 3 (MICAL3), transcript variant 1, mRNA.	881						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		AGTCGCTTGGCGATGCTGGGC	0.662000														19			8		0	0	1	0	0
GPR162	27239	broad.mit.edu	37	12	6946155	6946155	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:6946155G>T	uc001qra.1	+	10	1496	c.1462G>T	c.(1462-1464)Gct>Tct	p.A488S	GPR162_uc001qrb.1_Missense_Mutation_p.A296S	NM_014262	NP_055077	Q16538	GP162_HUMAN	Homo sapiens leprecan-like 2 (LEPREL2), mRNA.	0						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1)	18						TTAGGATGCAGCTGGGGCTGG	0.647000														15			12		1.05317e-09	1.25904e-09	1	1	0
SLC35E1	79939	broad.mit.edu	37	19	16664712	16664712	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:16664712G>A	uc010xph.2	-	5	1029	c.1011C>T	c.(1009-1011)taC>taT	p.Y337Y	MED26_uc002nee.2_Non-coding_Transcript	NM_024881	NP_079157	Q96K37	S35E1_HUMAN	Homo sapiens solute carrier family 35, member E1 (SLC35E1), mRNA.	337					transport	integral to membrane				central_nervous_system(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(2)|ovary(1)	15						GGTTTGCATCGTACTTGGTCT	0.577000														30			9		0	0	1	0	0
TRIM17	51127	broad.mit.edu	37	1	228598777	228598777	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:228598777G>A	uc001hsu.3	-	3	1011	c.626C>T	c.(625-627)aCg>aTg	p.T209M	TRIM17_uc001hsv.3_Missense_Mutation_p.T209M|TRIM17_uc009xfb.2_Missense_Mutation_p.T209M	NM_016102	NP_057186	Q9Y577	TRI17_HUMAN	Homo sapiens tripartite motif containing 17 (TRIM17), transcript variant 1, mRNA.	209					protein autoubiquitination	intracellular	protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	10		Prostate(94;0.0724)				CTCTTCTTCCGTCTCCAGAGC	0.617000														50			40		0	0	1	0	0
KIAA1210	57481	broad.mit.edu	37	X	118242365	118242365	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:118242365A>G	uc004era.4	-	5	847	c.847T>C	c.(847-849)Tca>Cca	p.S283P		NM_020721	NP_065772	Q9ULL0	K1210_HUMAN	Homo sapiens KIAA1210 (KIAA1210), mRNA.	283										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						ACAGCTCCTGACATGGCTCCA	0.483000														70			56		0	0	1	0	0
PWP1	11137	broad.mit.edu	37	12	108102935	108102935	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:108102935G>A	uc001tmo.1	+	12	1303	c.1216G>A	c.(1216-1218)Gct>Act	p.A406T		NM_007062	NP_008993	Q13610	PWP1_HUMAN	Homo sapiens PWP1 homolog (S. cerevisiae) (PWP1), mRNA.	406					transcription, DNA-dependent	nucleus				breast(3)|endometrium(4)|kidney(1)|large_intestine(8)|lung(6)|urinary_tract(1)	23						GACTGCTTCAGCTGACAAATA	0.403000														112			12		0	0	1	0	0
OR6V1	346517	broad.mit.edu	37	7	142749947	142749947	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:142749947C>T	uc011ksv.2	+	0	510	c.510C>T	c.(508-510)gaC>gaT	p.D170D		NM_001001667	NP_001001667	Q8N148	OR6V1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily V, member 1 (OR6V1), mRNA.	170					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	20	Melanoma(164;0.059)					GCCATGGCGACGTCATCAACC	0.542000														91			89		0	0	1	0	0
GCOM1	145781	broad.mit.edu	37	15	58001098	58001098	+	Silent	SNP	G	A	A	rs146680768		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:58001098G>A	uc002aet.4	+	1	440	c.300G>A	c.(298-300)caG>caA	p.Q100Q	GCOM1_uc002aem.3_Intron|GCOM1_uc002aep.3_Non-coding_Transcript|GCOM1_uc010bfx.3_Intron|GCOM1_uc002aeq.3_Intron|GCOM1_uc002aen.3_Intron|GCOM1_uc010bfy.3_Intron|GCOM1_uc002aeo.3_Intron|GCOM1_uc002aes.3_Intron|GCOM1_uc002aev.1_3'UTR|GCOM1_uc010ugu.2_Non-coding_Transcript|GCOM1_uc002aeu.4_Intron	NM_015532	NP_056347	P0CAP1	GCOM1_HUMAN	Homo sapiens polymerase (RNA) II (DNA directed) polypeptide M (POLR2M), transcript variant 1, mRNA.	187					intracellular signal transduction	I band|extrinsic to internal side of plasma membrane				endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1)	18						ATAAGGCCCAGAATTCTGACC	0.403000														62			46		0	0	1	0	0
KCNJ5	3762	broad.mit.edu	37	11	128781290	128781290	+	Missense_Mutation	SNP	G	A	A	rs139073333	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:128781290G>A	uc001qet.3	+	1	436	c.122G>A	c.(121-123)cGc>cAc	p.R41H	KCNJ5_uc009zck.3_Missense_Mutation_p.R41H|KCNJ5_uc001qew.3_Missense_Mutation_p.R41H	NM_000890	NP_000881	P48544	IRK5_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 5 (KCNJ5), mRNA.	41					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	p.R41H(2)		NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glibenclamide(DB01016)	GACCGTACGCGCCTGCTGGCC	0.597000														48			28		0	0	1	0	0
FOXK2	3607	broad.mit.edu	37	17	80559225	80559225	+	Silent	SNP	G	A	A	rs151062508		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:80559225G>A	uc002kfn.3	+	8	2004	c.1833G>A	c.(1831-1833)tcG>tcA	p.S611S	FOXK2_uc010diu.3_Missense_Mutation_p.R319Q|FOXK2_uc002kfo.3_Non-coding_Transcript|FOXK2_uc002kfp.3_Non-coding_Transcript	NM_004514	NP_004505	Q01167	FOXK2_HUMAN	Homo sapiens forkhead box K2 (FOXK2), mRNA.	611					embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA 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			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	17	Breast(20;0.00106)|all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415)			CATCCGCATCGGCCTCCCTGC	0.622000														29			12		0	0	1	0	0
ZNF75D	7626	broad.mit.edu	37	X	134424994	134424994	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:134424994A>G	uc022ceq.1	-	4	1154	c.764T>C	c.(763-765)cTt>cCt	p.L255P	DKFZp451F083_uc004eym.3_Intron|DKFZp451F083_uc022cep.1_Intron|ZNF75D_uc004eyo.3_Missense_Mutation_p.L160P	NM_007131	NP_009062	P51815	ZN75D_HUMAN	Homo sapiens zinc finger protein 75D (ZNF75D), transcript variant 1, mRNA.	255	KRAB.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						AGTCTTCTCAAGAGGATTCAA	0.358000														94			53		0	0	1	0	0
CPN1	1369	broad.mit.edu	37	10	101816817	101816817	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:101816817G>A	uc001kql.2	-	5	1224	c.964C>T	c.(964-966)Cgg>Tgg	p.R322W		NM_001308	NP_001299	P15169	CBPN_HUMAN	Homo sapiens carboxypeptidase N, polypeptide 1 (CPN1), mRNA.	322	Catalytic.				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)		AGCCACTCCCGCTGTAACTCC	0.453000														215			17		0	0	1	0	0
DCHS1	8642	broad.mit.edu	37	11	6648773	6648773	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6648773G>A	uc001mem.1	-	13	5898	c.5497C>T	c.(5497-5499)Cca>Tca	p.P1833S		NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	Homo sapiens dachsous 1 (Drosophila) (DCHS1), mRNA.	1833	Cadherin 17.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGAGAGCTGGCTGGCCTCCA	0.592000														13			8		0	0	1	0	0
NDUFA5	4698	broad.mit.edu	37	7	123197356	123197356	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:123197356G>T	uc003vkt.1	-	1	277	c.168C>A	c.(166-168)gcC>gcA	p.A56A	NDUFA5_uc003vks.3_Intron			Q16718	NDUA5_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5, 13kDa (NDUFA5), nuclear gene encoding mitochondrial protein, mRNA.	0					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			large_intestine(1)|urinary_tract(1)	2					NADH(DB00157)	TGTAATTAAGGGCTTGAAACA	0.418000														10			5		0.000602214	0.000641151	1	1	0
CHSY3	337876	broad.mit.edu	37	5	129521469	129521469	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:129521469T>C	uc003kvd.3	+	2	2634	c.2634T>C	c.(2632-2634)aaT>aaC	p.N878N		NM_175856	NP_787052	Q70JA7	CHSS3_HUMAN	Homo sapiens chondroitin sulfate synthase 3 (CHSY3), mRNA.	878						Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		TCAGGTACAATCGAACTCTCT	0.393000														33			26		0	0	1	0	0
IRF2	3660	broad.mit.edu	37	4	185320164	185320164	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:185320164C>T	uc003iwf.4	-	6	799	c.599G>A	c.(598-600)tGc>tAc	p.C200Y		NM_002199	NP_002190	P14316	IRF2_HUMAN	Homo sapiens interferon regulatory factor 2 (IRF2), mRNA.	200					blood coagulation|cell proliferation|interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	focal adhesion|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	22		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)		TACAACTTGGCAAATGTCTGG	0.507000														52			6		0	0	1	0	0
MFSD9	84804	broad.mit.edu	37	2	103335385	103335385	+	Missense_Mutation	SNP	C	T	T	rs34240435		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:103335385C>T	uc002tcb.2	-	5	987	c.919G>A	c.(919-921)Gtc>Atc	p.V307I	MFSD9_uc010fja.2_Non-coding_Transcript|MFSD9_uc021vls.1_Missense_Mutation_p.V246I	NM_032718	NP_116107	Q8NBP5	MFSD9_HUMAN	Homo sapiens major facilitator superfamily domain containing 9 (MFSD9), mRNA.	307					transmembrane transport	integral to membrane|plasma membrane	transporter activity			breast(3)|large_intestine(7)|liver(1)|lung(6)|ovary(2)|skin(1)	20						AGGGCCAGGACAAAGTTACTG	0.577000														38			5		0	0	1	0	0
CCDC147	159686	broad.mit.edu	37	10	106207489	106207489	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:106207489G>A	uc001kyh.3	+	15	2424	c.2290G>A	c.(2290-2292)Gtc>Atc	p.V764I		NM_001008723	NP_001008723	Q5T655	CC147_HUMAN	Homo sapiens coiled-coil domain containing 147 (CCDC147), mRNA.	764										NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		ACTAAAGCACGTCTTGGCCCG	0.532000														25			29		0	0	1	0	0
ZNF532	55205	broad.mit.edu	37	18	56646333	56646333	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:56646333C>T	uc010xeg.2	+	7	3394	c.3197C>T	c.(3196-3198)tCg>tTg	p.S1066L	ZNF532_uc002lhp.3_Missense_Mutation_p.S1064L|ZNF532_uc002lho.3_Missense_Mutation_p.S1066L|ZNF532_uc002lhr.3_Missense_Mutation_p.S1064L|ZNF532_uc002lhs.3_Missense_Mutation_p.S1064L|ZNF532_uc010xeh.2_Missense_Mutation_p.S158L	NM_018181	NP_060651	Q9HCE3	ZN532_HUMAN	Homo sapiens zinc finger protein 532 (ZNF532), mRNA.	1066					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						TCTTTCAGCTCGTCCCACAGC	0.507000														83			37		0	0	1	0	0
EZH2	2146	broad.mit.edu	37	7	148506461	148506461	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:148506461C>T	uc003wfd.2	-	17	2229	c.2036G>A	c.(2035-2037)cGc>cAc	p.R679H	EZH2_uc022aov.1_Missense_Mutation_p.R598H|EZH2_uc011kug.2_Missense_Mutation_p.R628H|EZH2_uc003wfb.2_Missense_Mutation_p.R684H|EZH2_uc003wfc.2_Missense_Mutation_p.R640H|EZH2_uc011kuh.2_Missense_Mutation_p.R670H	NM_001203247	NP_001190176	Q15910	EZH2_HUMAN	Homo sapiens enhancer of zeste homolog 2 (Drosophila) (EZH2), transcript variant 3, mRNA.	679	SET.				negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|histone-lysine N-methyltransferase activity|protein binding	p.V679M(3)|p.R684H(1)|p.R640H(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			GTTACCCTTGCGGGTTGCATC	0.358000			Mis		DLBCL									124			40		0	0	1	0	0
WWC1	23286	broad.mit.edu	37	5	167836972	167836972	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:167836972C>T	uc003lzu.3	+	7	1006	c.913C>T	c.(913-915)Cgc>Tgc	p.R305C	WWC1_uc003lzv.3_Missense_Mutation_p.R305C|WWC1_uc011den.2_Missense_Mutation_p.R305C|WWC1_uc003lzw.3_Missense_Mutation_p.R104C	NM_015238	NP_056053	Q8IX03	KIBRA_HUMAN	Homo sapiens WW and C2 domain containing 1 (WWC1), transcript variant 3, mRNA.	305					cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity	p.R305H(1)		breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		GGTCAGATTGCGCCTTCGATA	0.483000														34			23		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140263264	140263264	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140263264G>A	uc003lif.2	+	0	1411	c.1411G>A	c.(1411-1413)Ggc>Agc	p.G471S	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lie.1_Missense_Mutation_p.G471S|PCDHAC2_uc003lid.3_Missense_Mutation_p.G471S	NM_018904	NP_061727	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 13 (PCDHA13), transcript variant 1, mRNA.	485	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)			CAATCCGCCGGGCTGCCACAT	0.677000														57			22		0	0	1	0	0
PLCG2	5336	broad.mit.edu	37	16	81934302	81934302	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:81934302G>A	uc002fgt.3	+	13	1457	c.1279G>A	c.(1279-1281)Gac>Aac	p.D427N	PLCG2_uc010chg.1_Missense_Mutation_p.D427N	NM_002661	NP_002652	P16885	PLCG2_HUMAN	Homo sapiens phospholipase C, gamma 2 (phosphatidylinositol-specific) (PLCG2), mRNA.	427	PI-PLC X-box.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	p.G426G(1)		NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						AGTATTTGGCGACCTGCTGTT	0.612000														23			15		0	0	1	0	0
SNX9	51429	broad.mit.edu	37	6	158330965	158330965	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:158330965G>T	uc003qqv.1	+	8	1030	c.857G>T	c.(856-858)aGg>aTg	p.R286M		NM_016224	NP_057308	Q9Y5X1	SNX9_HUMAN	Homo sapiens sorting nexin 9 (SNX9), mRNA.	286	PX.				cell communication|intracellular protein transport|lipid tube assembly|positive regulation of GTPase activity|positive regulation of protein oligomerization|receptor-mediated endocytosis	clathrin-coated vesicle|cytoplasmic vesicle membrane|extrinsic to internal side of plasma membrane|ruffle|trans-Golgi network	1-phosphatidylinositol binding|protein homodimerization activity|ubiquitin protein ligase binding	p.R286G(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167)		OV - Ovarian serous cystadenocarcinoma(65;8.06e-18)|BRCA - Breast invasive adenocarcinoma(81;4.48e-05)		GTAAACCACAGGTATAAGCAC	0.408000														124			13		2.32078e-09	2.76369e-09	1	1	0
ZBTB11	27107	broad.mit.edu	37	3	101383381	101383381	+	Splice_Site	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:101383381C>A	uc003dve.4	-	5	2030	c.1800_splice	c.e5+1	p.P600_splice		NM_014415	NP_055230	O95625	ZBT11_HUMAN	Homo sapiens zinc finger and BTB domain containing 11 (ZBTB11), mRNA.	600					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						CAAATACTTACTGGACATTTG	0.333000														101			7		2.7689e-08	3.24273e-08	1	1	0
HSPG2	3339	broad.mit.edu	37	1	22188562	22188562	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:22188562G>T	uc009vqd.3	-	37	4830	c.4790C>A	c.(4789-4791)cCt>cAt	p.P1597H	HSPG2_uc001bfj.3_Missense_Mutation_p.P1596H	NM_005529	NP_005520	P98160	PGBM_HUMAN	Homo sapiens heparan sulfate proteoglycan 2 (HSPG2), mRNA.	1596	Laminin EGF-like 10.				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)	GTAGTAGCCAGGGGCACAAAG	0.612000														65			8		0.000157383	0.000170012	1	1	0
PGGT1B	5229	broad.mit.edu	37	5	114573601	114573601	+	Nonsense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:114573601C>A	uc003kqw.4	-	3	454	c.433G>T	c.(433-435)Gaa>Taa	p.E145*	PGGT1B_uc010jch.3_Nonsense_Mutation_p.E145*	NM_005023	NP_005014	P53609	PGTB1_HUMAN	Homo sapiens protein geranylgeranyltransferase type I, beta subunit (PGGT1B), mRNA.	145					protein geranylgeranylation	CAAX-protein geranylgeranyltransferase complex	CAAX-protein geranylgeranyltransferase activity			breast(2)|endometrium(1)|large_intestine(2)|lung(1)	6		all_cancers(142;0.000523)|all_epithelial(76;6.45e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		Epithelial(69;2.95e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.98e-08)|all cancers(49;3.1e-06)	Pravastatin(DB00175)	AAGCAAGCTTCTTTATTTACT	0.408000														109			13		2.31682e-05	2.55671e-05	1	1	0
MED13L	23389	broad.mit.edu	37	12	116444176	116444176	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:116444176C>T	uc001tvw.3	-	11	2334	c.2279G>A	c.(2278-2280)gGt>gAt	p.G760D		NM_015335	NP_056150	Q71F56	MD13L_HUMAN	Homo sapiens mediator complex subunit 13-like (MED13L), mRNA.	760					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		CGTGGAATGACCTGGTGTAGT	0.408000														45			25		0	0	1	0	0
HEPHL1	341208	broad.mit.edu	37	11	93837825	93837825	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:93837825G>A	uc001pep.2	+	15	2971	c.2814G>A	c.(2812-2814)tgG>tgA	p.W938*	AF086184_uc001pen.1_Intron	NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN	Homo sapiens hephaestin-like 1 (HEPHL1), mRNA.	938	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)				ATGAATCCTGGTATCTGGATG	0.358000														70			36		0	0	1	0	0
F8	2157	broad.mit.edu	37	X	154088874	154088874	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:154088874G>A	uc004fmt.3	-	24	6904	c.6733C>T	c.(6733-6735)Cca>Tca	p.P2245S	F8_uc004fms.3_Missense_Mutation_p.P110S	NM_000132	NP_000123	P00451	FA8_HUMAN	Homo sapiens coagulation factor VIII, procoagulant component (F8), transcript variant 1, mRNA.	2245	F5/8 type C 2.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	CACTCTTTTGGATTATTCACC	0.443000														56			38		0	0	1	0	0
TRAPPC4	51399	broad.mit.edu	37	11	118889933	118889933	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:118889933C>A	uc010ryo.2	+	1	521	c.256C>A	c.(256-258)Ctg>Atg	p.L86M	RPS25_uc001pun.2_5'Flank|TRAPPC4_uc010ryn.2_Missense_Mutation_p.L86M|TRAPPC4_uc010ryp.2_Intron|TRAPPC4_uc010ryq.2_Missense_Mutation_p.L86M	NM_016146	NP_057230	Q9Y296	TPPC4_HUMAN	Homo sapiens trafficking protein particle complex 4 (TRAPPC4), mRNA.	86					ER to Golgi vesicle-mediated transport|dendrite development	Golgi stack|cis-Golgi network|dendrite|endoplasmic reticulum|synaptic vesicle	protein binding			NS(1)|endometrium(1)|large_intestine(2)|lung(1)	5	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_neural(223;0.224)|all_hematologic(192;0.243)		BRCA - Breast invasive adenocarcinoma(274;7.58e-05)		GCTGGAGTATCTGGGTAACCC	0.552000														29			21		8.10497e-08	9.41436e-08	1	1	0
ADAMTSL1	92949	broad.mit.edu	37	9	18777746	18777746	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:18777746C>T	uc003zne.4	+	18	3671	c.3519C>T	c.(3517-3519)gcC>gcT	p.A1173A		NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN	Homo sapiens ADAMTS-like 1 (ADAMTSL1), transcript variant 4, mRNA.	1173	Ig-like C2-type 2.					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)		TCTCAGCGGCCCAGCAGCTCT	0.687000														8			6		0	0	1	0	0
SLC29A3	55315	broad.mit.edu	37	10	73115972	73115972	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:73115972C>A	uc001jrr.4	+	4	802	c.745C>A	c.(745-747)Ctg>Atg	p.L249M	SLC29A3_uc001jrs.4_Missense_Mutation_p.L249M|SLC29A3_uc010qjq.2_Missense_Mutation_p.L103M|SLC29A3_uc001jrt.4_Missense_Mutation_p.L43M	NM_018344	NP_060814	Q9BZD2	S29A3_HUMAN	Homo sapiens solute carrier family 29 (nucleoside transporters), member 3 (SLC29A3), transcript variant 1, mRNA.	249					nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|late endosome membrane|lysosomal membrane	nucleoside transmembrane transporter activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	15						GGGACTCTACCTGCTGCTGTC	0.552000														43			14		2.31682e-05	2.55671e-05	1	1	0
RPL13AP20	387841	broad.mit.edu	37	12	13028811	13028811	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:13028811G>A	uc010sho.2	+	0	401	c.379G>A	c.(379-381)Gtg>Atg	p.V127M						Homo sapiens ribosomal protein L13a pseudogene 20 (RPL13AP20), non-coding RNA.																		CCTCAAGGTTGTGCGTCTGAA	0.602000														4			5		0	0	1	0	0
MED26	9441	broad.mit.edu	37	19	16688338	16688338	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:16688338G>A	uc002nen.1	-	2	564	c.303C>T	c.(301-303)acC>acT	p.T101T	MED26_uc002nee.2_Non-coding_Transcript	NM_004831	NP_004822	O95402	MED26_HUMAN	Homo sapiens mediator complex subunit 26 (MED26), mRNA.	101					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|RNA polymerase II transcription cofactor activity|transcription coactivator activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|skin(1)	8						TGGCAGAGCCGGTGGCCCCCG	0.706000														17			7		0	0	1	0	0
TTLL5	23093	broad.mit.edu	37	14	76330205	76330205	+	Splice_Site	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:76330205G>T	uc010ask.2	+	30	3842	c.3567_splice	c.e30+1	p.Q1189_splice	TTLL5_uc001xrx.3_Splice_Site_p.Q1174_splice|TTLL5_uc001xrz.3_Splice_Site_p.Q749_splice|TTLL5_uc001xsa.3_Splice_Site_p.Q248_splice	NM_015072	NP_055887	Q6EMB2	TTLL5_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 5 (TTLL5), mRNA.	1174					protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity			NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		CCCGGCACCAGGTAATTCAAG	0.423000														63			6		2.0095e-06	2.27092e-06	1	1	0
GPLD1	2822	broad.mit.edu	37	6	24475410	24475410	+	Missense_Mutation	SNP	G	A	A	rs143874618		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:24475410G>A	uc003ned.1	-	4	491	c.380C>T	c.(379-381)gCg>gTg	p.A127V	GPLD1_uc010jpr.1_5'UTR|GPLD1_uc010jps.1_Missense_Mutation_p.A127V|GPLD1_uc003nee.3_Missense_Mutation_p.A127V	NM_001503	NP_001494	P80108	PHLD_HUMAN	Homo sapiens glycosylphosphatidylinositol specific phospholipase D1 (GPLD1), transcript variant 1, mRNA.	127						extracellular region	glycosylphosphatidylinositol phospholipase D activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						GACATCTGCCGCCATGTGAGA	0.438000														48			21		0	0	1	0	0
DDX54	79039	broad.mit.edu	37	12	113618863	113618863	+	Splice_Site	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:113618863G>T	uc001tuq.4	-	2	203	c.175_splice	c.e2-1	p.L59_splice	DDX54_uc001tup.3_Splice_Site_p.L59_splice	NM_001111322	NP_001104792	Q8TDD1	DDX54_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 54 (DDX54), transcript variant 1, mRNA.	59					RNA processing|estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	ATP binding|ATP-dependent RNA helicase activity|RNA binding|estrogen receptor binding|transcription corepressor activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						CCAGGTCCCAGCTGGGAGGGA	0.637000														42			4		0.000602214	0.000641151	1	1	0
CEP192	55125	broad.mit.edu	37	18	13056632	13056632	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:13056632C>A	uc010xac.2	+	18	4123	c.4043C>A	c.(4042-4044)cCt>cAt	p.P1348H	CEP192_uc010dlf.1_Non-coding_Transcript|CEP192_uc010xad.2_Missense_Mutation_p.P873H|CEP192_uc002kru.3_Non-coding_Transcript|CEP192_uc002krv.3_5'UTR|CEP192_uc002krs.1_Missense_Mutation_p.P1089H	NM_032142	NP_115518	B7ZMF0	B7ZMF0_HUMAN	Homo sapiens centrosomal protein 192kDa (CEP192), mRNA.	943										NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						AAACCTTTTCCTGTGCCGTCT	0.413000														102			76		1.10181e-30	1.45445e-30	1	1	0
CATSPERG	57828	broad.mit.edu	37	19	38861280	38861280	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:38861280G>A	uc002oih.4	+	28	3415	c.3328G>A	c.(3328-3330)Gcc>Acc	p.A1110T	CATSPERG_uc002oig.4_Missense_Mutation_p.A1070T|CATSPERG_uc002oif.4_Missense_Mutation_p.A750T|CATSPERG_uc010efw.3_Non-coding_Transcript	NM_021185	NP_067008	Q6ZRH7	CTSRG_HUMAN	Homo sapiens cation channel, sperm-associated, gamma (CATSPERG), mRNA.	1110					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						CAACCTCATTGCCTCAGAATC	0.547000														44			34		0	0	1	0	0
N4BP2	55728	broad.mit.edu	37	4	40121734	40121734	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:40121734T>C	uc003guy.4	+	8	2341	c.2003T>C	c.(2002-2004)aTg>aCg	p.M668T	N4BP2_uc010ifq.3_Missense_Mutation_p.M588T|N4BP2_uc010ifr.3_Missense_Mutation_p.M588T	NM_018177	NP_060647	Q86UW6	N4BP2_HUMAN	Homo sapiens NEDD4 binding protein 2 (N4BP2), mRNA.	668						cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						ATAAGTGATATGAATCCTAGC	0.338000														85			7		0	0	1	0	0
CACNA1H	8912	broad.mit.edu	37	16	1266973	1266973	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:1266973C>A	uc002cks.3	+	30	5534	c.5286C>A	c.(5284-5286)atC>atA	p.I1762I	CACNA1H_uc002ckt.3_Silent_p.I1756I|CACNA1H_uc002cku.3_Silent_p.I468I|CACNA1H_uc010brj.3_Silent_p.I473I|CACNA1H_uc002ckv.3_Silent_p.I462I	NM_021098	NP_066921	O95180	CAC1H_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1H subunit (CACNA1H), transcript variant 1, mRNA.	1762					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	TGTTTTTTATCTATGCTGCGC	0.632000														6			5		0.0293803	0.0299714	1	1	0
PRKG1	5592	broad.mit.edu	37	10	54031201	54031201	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:54031201G>A	uc001jjm.3	+	10	1448	c.1220G>A	c.(1219-1221)cGc>cAc	p.R407H	PRKG1_uc001jjo.3_Missense_Mutation_p.R422H|PRKG1_uc009xow.2_Missense_Mutation_p.R125H|LOC100506939_uc021pqu.1_Intron	NM_001098512	NP_001091982	Q13976	KGP1_HUMAN	Homo sapiens protein kinase, cGMP-dependent, type I (PRKG1), transcript variant 1, mRNA.	407	Protein kinase.				actin cytoskeleton organization|platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		GAGCACATCCGCTCAGAGAAG	0.463000														24			4		0	0	1	0	0
ATF6	22926	broad.mit.edu	37	1	161753881	161753881	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:161753881G>A	uc001gbs.3	+	3	466	c.349G>A	c.(349-351)Gtt>Att	p.V117I	ATF6_uc001gbq.2_Missense_Mutation_p.V117I	NM_007348	NP_031374	P18850	ATF6A_HUMAN	Homo sapiens activating transcription factor 6 (ATF6), mRNA.	117	Transcription activation.				positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|protein folding	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|nuclear envelope|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(14)|ovary(3)|skin(1)|stomach(1)	34	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.00953)			AACTCAGCATGTTCCTGTGAG	0.388000														47			62		0	0	1	0	0
ZNF765	91661	broad.mit.edu	37	19	53912162	53912162	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:53912162A>C	uc010ydx.2	+	5	1681	c.1354A>C	c.(1354-1356)Aac>Cac	p.N452H	ZNF765_uc002qbm.3_Missense_Mutation_p.N452H|ZNF765_uc002qbn.3_Intron	NM_001040185	NP_001035275	Q7L2R6	ZN765_HUMAN	Homo sapiens zinc finger protein 765 (ZNF765), mRNA.	452					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(3)	4				GBM - Glioblastoma multiforme(134;0.00379)		TTTCAAATCAAACCTTGAAAT	0.388000														39			25		0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	39023358	39023358	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:39023358G>T	uc002oit.3	+	77	11371	c.11241G>T	c.(11239-11241)gaG>gaT	p.E3747D	RYR1_uc002oiu.3_Missense_Mutation_p.E3742D|RYR1_uc002oiv.1_Missense_Mutation_p.E662D|RYR1_uc010xuf.1_Missense_Mutation_p.E667D	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	3747					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CTGAAGAGGAGGTTGAGGTCT	0.587000														29			3		0.00024832	0.000267289	1	1	0
DCTN5	84516	broad.mit.edu	37	16	23654310	23654310	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:23654310T>C	uc002dly.2	+	1	260	c.83T>C	c.(82-84)tTg>tCg	p.L28S	PALB2_uc002dlx.1_5'Flank|DCTN5_uc021tfh.1_Missense_Mutation_p.L28S|DCTN5_uc021tfi.1_5'UTR|DCTN5_uc021tfj.1_Missense_Mutation_p.L28S	NM_032486	NP_115875	Q9BTE1	DCTN5_HUMAN	Homo sapiens dynactin 5 (p25) (DCTN5), transcript variant 1, mRNA.	28						centrosome	transferase activity			endometrium(2)|lung(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	10				GBM - Glioblastoma multiforme(48;0.0156)		CAGTCAGTGTTGTGTGGAAGC	0.473000														67			8		0	0	1	0	0
DPP3	10072	broad.mit.edu	37	11	66260231	66260231	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:66260231C>T	uc001oig.1	+	9	1095	c.1033C>T	c.(1033-1035)Cgg>Tgg	p.R345W	DPP3_uc001oif.1_Missense_Mutation_p.R345W|DPP3_uc010rpe.1_Missense_Mutation_p.R334W	NM_005700	NP_569710	Q9NY33	DPP3_HUMAN	Homo sapiens dipeptidyl-peptidase 3 (DPP3), transcript variant 1, mRNA.	345					proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						CAAGTTTGAGCGGCTGGTGGC	0.607000														55			26		0	0	1	0	0
RUNX1	861	broad.mit.edu	37	21	36259226	36259226	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:36259226G>A	uc002yuh.3	-	0	1762	c.184C>T	c.(184-186)Ctg>Ttg	p.L62L	RUNX1_uc002yut.1_Non-coding_Transcript|RUNX1_uc010gmu.3_Silent_p.L89L|RUNX1_uc010gmv.3_Silent_p.L89L|RUNX1_uc002yuj.4_Intron|RUNX1_uc002yuk.4_Silent_p.L89L|RUNX1_uc002yum.1_Intron|RUNX1_uc010gmw.1_Silent_p.L89L|RUNX1_uc002yuo.1_Silent_p.L62L	NM_001001890	NP_001001890	Q01196	RUNX1_HUMAN	Homo sapiens runt-related transcription factor 1 (RUNX1), transcript variant 2, mRNA.	62	Runt.				myeloid cell differentiation|negative regulation of granulocyte differentiation|positive regulation of angiogenesis|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|calcium ion binding|protein binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding	p.D62fs*77(1)		breast(5)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(428)|large_intestine(3)|lung(6)|oesophagus(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	452						GTGCGCACCAGCTCGCCCGGG	0.711000			T	"""RPL22, MDS1, EVI1, CBFA2T3, CBFA2T1, ETV6, LAF4"""	"""AML, preB- ALL, T-ALL"""									21			10		0	0	1	0	0
GATA6	2627	broad.mit.edu	37	18	19751405	19751405	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:19751405G>A	uc002ktt.1	+	1	565	c.300G>A	c.(298-300)gcG>gcA	p.A100A	GATA6_uc002ktu.1_Silent_p.A100A	NM_005257	NP_005248	Q92908	GATA6_HUMAN	Homo sapiens GATA binding protein 6 (GATA6), mRNA.	100					blood coagulation|cardiac vascular smooth muscle cell differentiation|cellular response to hypoxia|intestinal epithelial cell differentiation|male gonad development|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor-beta1 production|negative regulation of transforming growth factor-beta2 production|outflow tract septum morphogenesis|positive regulation of angiogenesis|positive regulation of cell cycle arrest|positive regulation of transcription from RNA polymerase II promoter|response to drug|response to growth factor stimulus		protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	18	all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246)		STAD - Stomach adenocarcinoma(5;0.106)			CTGGGGTCGCGGGCCCCGGGG	0.731000														8			6		0	0	1	0	0
SPAG17	200162	broad.mit.edu	37	1	118640381	118640381	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:118640381G>T	uc001ehk.2	-	6	991	c.923C>A	c.(922-924)cCt>cAt	p.P308H		NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	Homo sapiens sperm associated antigen 17 (SPAG17), mRNA.	308						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		ATTTGTTTCAGGTTTCTCATT	0.373000														66			6		0.0477658	0.0485825	1	1	0
NOD1	10392	broad.mit.edu	37	7	30491398	30491398	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:30491398C>A	uc003tav.3	-	5	2158	c.1635G>T	c.(1633-1635)caG>caT	p.Q545H		NM_006092	NP_006083	Q9Y239	NOD1_HUMAN	Homo sapiens nucleotide-binding oligomerization domain containing 1 (NOD1), mRNA.	545					JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of dendritic cell antigen processing and presentation|protein oligomerization|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						GCATCCACTCCTGGAAGAACC	0.627000														129			13		1.61879e-10	1.95797e-10	1	1	0
PTPRB	5787	broad.mit.edu	37	12	70989893	70989893	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:70989893A>G	uc001swb.4	-	2	570	c.540T>C	c.(538-540)aaT>aaC	p.N180N	PTPRB_uc010sto.2_Silent_p.N180N|PTPRB_uc010stp.2_Silent_p.N180N|PTPRB_uc001swc.4_Silent_p.N398N|PTPRB_uc001swa.4_Silent_p.N398N|PTPRB_uc001swd.4_Silent_p.N397N|PTPRB_uc009zrr.2_Silent_p.N277N|PTPRB_uc001swe.3_Silent_p.N398N	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	180	Fibronectin type-III 2.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TGATGGCAATATTGTATTTAC	0.333000														39			10		0	0	1	0	0
NOMO1	23420	broad.mit.edu	37	16	14962439	14962439	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:14962439T>C	uc002dcv.3	+	15	1907	c.1841T>C	c.(1840-1842)gTg>gCg	p.V614A		NM_014287	NP_055102	Q15155	NOMO1_HUMAN	Homo sapiens NODAL modulator 1 (NOMO1), mRNA.	614						integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding			endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						CGTGAGAATGTGGGGATTTAT	0.403000														143			11		0	0	1	0	0
USP35	57558	broad.mit.edu	37	11	77921330	77921330	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:77921330G>A	uc021qny.1	+	9	2785	c.2429G>A	c.(2428-2430)cGc>cAc	p.R810H	USP35_uc001oze.2_Missense_Mutation_p.R566H|USP35_uc001ozc.3_Missense_Mutation_p.R378H|USP35_uc010rsp.2_Missense_Mutation_p.R242H|USP35_uc001ozd.3_Missense_Mutation_p.R421H|USP35_uc001ozf.3_Missense_Mutation_p.R541H	NM_020798	NP_065849	Q9P2H5	UBP35_HUMAN	Homo sapiens ubiquitin specific peptidase 35 (USP35), mRNA.	810					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			ACACTGCTGCGCTTCTCTTTC	0.642000														51			49		0	0	1	0	0
C6orf170	221322	broad.mit.edu	37	6	121427277	121427277	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:121427277G>A	uc003pyo.1	-	29	3425	c.3357C>T	c.(3355-3357)ggC>ggT	p.G1119G		NM_152730	NP_689943	Q96NH3	BROMI_HUMAN	Homo sapiens chromosome 6 open reading frame 170 (C6orf170), mRNA.	1119	Rab-GAP TBC.				multicellular organismal development	cilium|cytoplasm	Rab GTPase activator activity	p.G1119D(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	55				GBM - Glioblastoma multiforme(226;0.00521)		CTGGATGGATGCCAGATTCTA	0.303000														166			11		0	0	1	0	0
YWHAG	7532	broad.mit.edu	37	7	75958909	75958909	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:75958909G>A	uc011kgj.1	-	1	946	c.729C>T	c.(727-729)ggC>ggT	p.G243G		NM_012479	NP_036611	P61981	1433G_HUMAN	Homo sapiens tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma polypeptide (YWHAG), mRNA.	243					G2/M transition of mitotic cell cycle|regulation of neuron differentiation|regulation of signal transduction|regulation of synaptic plasticity	cytosol	insulin-like growth factor receptor binding|protein kinase C binding|protein kinase C inhibitor activity	p.G243G(2)		endometrium(2)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	8						TGTTGCCTTCGCCGCCATCGT	0.597000														9			15		0	0	1	0	0
SEPT8	23176	broad.mit.edu	37	5	132099458	132099458	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:132099458C>T	uc003kxr.2	-	3	712	c.474G>A	c.(472-474)acG>acA	p.T158T	SEPT8_uc003kxs.1_Silent_p.T158T|SEPT8_uc003kxu.2_Silent_p.T158T|SEPT8_uc011cxi.1_Silent_p.T156T|SEPT8_uc003kxv.2_Silent_p.T156T|SEPT8_uc003kxt.2_Silent_p.T98T	NM_001098811	NP_001092281	Q92599	SEPT8_HUMAN	Homo sapiens septin 8 (SEPT8), transcript variant 1, mRNA.	158					cell cycle	septin complex	GTP binding|protein binding		SEPT8/AFF4(2)	kidney(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	11		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GCCCTGTGGGCGTGATGAAGT	0.517000														134			73		0	0	1	0	0
OR2C3	81472	broad.mit.edu	37	1	247695568	247695568	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:247695568G>A	uc021pmb.1	-	0	246	c.246C>T	c.(244-246)ctC>ctT	p.L82L	C1orf150_uc009xgw.3_Intron|C1orf150_uc001ida.4_Intron|C1orf150_uc001idb.4_Intron|C1orf150_uc009xgx.3_Intron|OR2C3_uc001idd.3_5'Flank|OR2C3_uc009xgy.3_Silent_p.L82L	NM_198074	NP_932340	Q8N628	OR2C3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily C, member 3 (OR2C3), mRNA.	82					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			GGTTAGCCAGGAGCTGTGGGA	0.537000														23			27		0	0	1	0	0
ZNF497	162968	broad.mit.edu	37	19	58868797	58868797	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58868797C>A	uc002qsh.2	-	2	488	c.205G>T	c.(205-207)Ggc>Tgc	p.G69C	A1BG_uc002qsf.2_Intron|ZNF497_uc002qsi.2_Missense_Mutation_p.G69C|ZNF497_uc021vcw.1_Missense_Mutation_p.G69C|BC023201_uc002qsj.1_Silent_p.A56A|BC023201_uc002qsk.1_5'Flank	NM_198458	NP_940860	Q6ZNH5	ZN497_HUMAN	Homo sapiens zinc finger protein 497 (ZNF497), mRNA.	69					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|lung(3)|skin(2)	7		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0278)		CTGCCGGGGCCTCCCTGTTCG	0.746000														6			3		0.004672	0.00486265	1	1	0
DGAT1	8694	broad.mit.edu	37	8	145540576	145540576	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:145540576G>A	uc003zbv.3	-	15	1519	c.1251C>T	c.(1249-1251)taC>taT	p.Y417Y		NM_012079	NP_036211	O75907	DGAT1_HUMAN	Homo sapiens diacylglycerol O-acyltransferase 1 (DGAT1), mRNA.	417					triglyceride biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane	diacylglycerol O-acyltransferase activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	9	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;7.67e-40)|all cancers(56;7.88e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			CGCTCACCAGGTACTGAGATG	0.642000														6			5		0	0	1	0	0
ETAA1	54465	broad.mit.edu	37	2	67630708	67630708	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:67630708C>T	uc002sdz.1	+	4	1033	c.894C>T	c.(892-894)agC>agT	p.S298S		NM_019002	NP_061875	Q9NY74	ETAA1_HUMAN	Homo sapiens Ewing tumor-associated antigen 1 (ETAA1), mRNA.	298						cytoplasm|nucleus				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						GACAGTTAAGCCAAGAACTGC	0.378000														54			29		0	0	1	0	0
KLHL24	54800	broad.mit.edu	37	3	183368322	183368322	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:183368322C>T	uc003flv.3	+	2	473	c.178C>T	c.(178-180)Cgt>Tgt	p.R60C	KLHL24_uc003flw.3_Missense_Mutation_p.R60C|KLHL24_uc003flx.3_Missense_Mutation_p.R60C	NM_017644	NP_060114	Q6TFL4	KLH24_HUMAN	Homo sapiens kelch-like 24 (Drosophila) (KLHL24), mRNA.	60						axon|cytoplasm|perikaryon		p.R60C(2)		NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)			TAATGAATTTCGTGATAGCCG	0.413000														83			47		0	0	1	0	0
ZNF671	79891	broad.mit.edu	37	19	58232137	58232137	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58232137G>A	uc002qpz.4	-	3	1416	c.1317C>T	c.(1315-1317)caC>caT	p.H439H	ZNF551_uc002qpx.3_Intron|ZNF671_uc010eug.3_Silent_p.H362H|ZNF671_uc010yhf.2_Silent_p.H341H	NM_024833	NP_079109	Q8TAW3	ZN671_HUMAN	Homo sapiens zinc finger protein 671 (ZNF671), mRNA.	439					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		GTACATTAAGGTGGGAGCTTT	0.463000														52			27		0	0	1	0	0
SCN4A	6329	broad.mit.edu	37	17	62036796	62036796	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:62036796G>T	uc002jds.1	-	11	1925	c.1848C>A	c.(1846-1848)gtC>gtA	p.V616V		NM_000334	NP_000325	P35499	SCN4A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IV, alpha subunit (SCN4A), mRNA.	616					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	TGCCTGTGAAGACCTAGGGGG	0.597000														10			8		0.0477658	0.0485825	1	1	0
SRM	6723	broad.mit.edu	37	1	11119373	11119373	+	Missense_Mutation	SNP	T	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:11119373T>A	uc001arz.1	-	1	288	c.197A>T	c.(196-198)gAc>gTc	p.D66V		NM_003132	NP_003123	P19623	SPEE_HUMAN	Homo sapiens spermidine synthase (SRM), mRNA.	66					spermidine biosynthetic process	cytosol	protein homodimerization activity|spermidine synthase activity			large_intestine(1)|lung(1)|urinary_tract(1)	3	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.228)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)	S-Adenosylmethionine(DB00118)|Spermine(DB00127)	GATGACACCGTCCAACACCAG	0.622000														96			12		0	0	1	0	0
VPS13B	157680	broad.mit.edu	37	8	100711875	100711875	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:100711875A>G	uc003yiv.3	+	35	6355	c.6244A>G	c.(6244-6246)Act>Gct	p.T2082A	VPS13B_uc003yiw.3_Missense_Mutation_p.T2057A	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA.	2082					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TAGTGAAGAGACTTCAGCCAT	0.383000														52			22		0	0	1	0	0
UBR5	51366	broad.mit.edu	37	8	103266626	103266626	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:103266626G>A	uc003ykr.2	-	58	8759	c.8304C>T	c.(8302-8304)tgC>tgT	p.C2768C	UBR5_uc003yks.2_Silent_p.C2767C|UBR5_uc003ykq.3_Silent_p.C279C	NM_015902	NP_056986	O95071	UBR5_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 5 (UBR5), mRNA.	2768	HECT.				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	RNA binding|protein binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			GTCGAGAAATGCAAGTATTTG	0.423000														33			21		0	0	1	0	0
MPO	4353	broad.mit.edu	37	17	56350917	56350917	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:56350917G>A	uc002ivu.1	-	8	1656	c.1479C>T	c.(1477-1479)gtC>gtT	p.V493V		NM_000250	NP_000241	P05164	PERM_HUMAN	Homo sapiens myeloperoxidase (MPO), nuclear gene encoding mitochondrial protein, mRNA.	493					anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Cefdinir(DB00535)	CATTGGTGAAGACGTTGGCGA	0.617000														90			42		0	0	1	0	0
NDUFAF3	25915	broad.mit.edu	37	3	49059860	49059860	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49059860G>A	uc003cvq.3	+	1	663	c.159G>A	c.(157-159)gaG>gaA	p.E53E	DALRD3_uc003cvm.1_5'Flank|DALRD3_uc010hko.1_5'Flank|MIR425_uc011bcb.1_5'Flank|NDUFAF3_uc003cvn.3_5'UTR|MIR191_uc003cvo.1_5'Flank|NDUFAF3_uc003cvp.3_5'UTR|NDUFAF3_uc003cvr.3_5'UTR	NM_199069	NP_951056	Q9BU61	NDUF3_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 3 (NDUFAF3), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	53					mitochondrial respiratory chain complex I assembly	mitochondrial inner membrane|nucleus	protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)	8						TGCAACGCGAGGCCGCTCAGG	0.662000														21			9		0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578407	7578407	+	Missense_Mutation	SNP	G	A	A	rs138729528		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7578407G>A	uc002gim.2	-	4	717	c.523C>T	c.(523-525)Cgc>Tgc	p.R175C	TP53_uc002gig.1_Missense_Mutation_p.R175C|TP53_uc002gih.3_Missense_Mutation_p.R175C|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R43C|TP53_uc010cnf.1_Missense_Mutation_p.R43C|TP53_uc002gii.1_Missense_Mutation_p.R43C|TP53_uc010cni.1_Missense_Mutation_p.R175C|TP53_uc010cnh.1_Missense_Mutation_p.R175C|TP53_uc002gij.2_Missense_Mutation_p.R175C|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R82C|TP53_uc002gio.2_Missense_Mutation_p.R43C|TP53_uc010vug.2_Missense_Mutation_p.R136C	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	175	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934578).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R175H(807)|p.R175G(35)|p.R175C(34)|p.R175L(19)|p.R175S(11)|p.R174W(10)|p.0?(8)|p.R175P(6)|p.R175_E180delRCPHHE(6)|p.R175R(4)|p.R174fs*24(4)|p.R174fs*73(4)|p.R174K(4)|p.R174fs*1(4)|p.R43G(3)|p.R175fs*5(3)|p.R82G(3)|p.V157_C176del20(2)|p.R43C(2)|p.R174_H178>S(2)|p.V172_E180delVVRRCPHHE(2)|p.R174_H179delRRCPHH(2)|p.R175_H178>X(2)|p.R175fs*6(2)|p.R174_C176delRRC(2)|p.R174S(2)|p.V173fs*59(2)|p.R174R(2)|p.R175fs*72(2)|p.R174fs*70(2)|p.E171_H179delEVVRRCPHH(2)|p.R174_E180>K(2)|p.R174M(2)|p.R174fs*3(2)|p.R82C(2)|p.K164_P219del(1)|p.V173fs*69(1)|p.V172_R174delVVR(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.E171fs*1(1)|p.R42fs*24(1)|p.H168fs*69(1)|p.R174G(1)|p.R81fs*24(1)|p.S149fs*72(1)|p.R174fs*7(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)		TGGGGGCAGCGCCTCACAACC	0.657000		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)				34			17		0	0	1	0	0
PDZD2	23037	broad.mit.edu	37	5	32089262	32089262	+	Missense_Mutation	SNP	C	T	T	rs138400638		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:32089262C>T	uc003jhl.3	+	19	6096	c.5708C>T	c.(5707-5709)gCg>gTg	p.A1903V	PDZD2_uc003jhm.3_Missense_Mutation_p.A1903V	NM_178140	NP_835260	O15018	PDZD2_HUMAN	Homo sapiens PDZ domain containing 2 (PDZD2), mRNA.	1903					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GCCCCTGCTGCGAATGCTGTG	0.552000														46			20		0	0	1	0	0
IMPDH1	3614	broad.mit.edu	37	7	128040230	128040230	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:128040230T>C	uc011kol.1	-	5	644	c.538A>G	c.(538-540)Acg>Gcg	p.T180A	IMPDH1_uc011kom.1_Missense_Mutation_p.T175A|IMPDH1_uc003vmt.2_Missense_Mutation_p.T155A|IMPDH1_uc003vmu.2_Missense_Mutation_p.T265A|IMPDH1_uc003vmx.2_Missense_Mutation_p.T188A|IMPDH1_uc003vmy.2_Missense_Mutation_p.T196A|IMPDH1_uc003vmw.2_Missense_Mutation_p.T255A|IMPDH1_uc011kon.1_Missense_Mutation_p.T232A|IMPDH1_uc003vmv.2_Missense_Mutation_p.T229A	NM_001142573	NP_001136045	P20839	IMDH1_HUMAN	Homo sapiens IMP (inosine 5'-monophosphate) dehydrogenase 1 (IMPDH1), transcript variant 5, mRNA.	180	CBS 2.				GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	DNA binding|IMP dehydrogenase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)	22					Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)|Ribavirin(DB00811)|Thioguanine(DB00352)	ATCCTTGGCGTCATCACCTGT	0.572000														122			57		0	0	1	0	0
COPB2	9276	broad.mit.edu	37	3	139092102	139092102	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:139092102G>A	uc003etf.4	-	8	1177	c.1047C>T	c.(1045-1047)ggC>ggT	p.G349G	COPB2_uc011bmv.2_Silent_p.G320G|COPB2_uc010hui.3_Silent_p.G320G	NM_004766	NP_004757	P35606	COPB2_HUMAN	Homo sapiens coatomer protein complex, subunit beta 2 (beta prime) (COPB2), transcript variant 1, mRNA.	349					COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	24						TTTCACAACTGCCCATATCCT	0.448000														68			31		0	0	1	0	0
ING5	84289	broad.mit.edu	37	2	242662453	242662453	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:242662453C>A	uc002wcd.3	+	5	607	c.582C>A	c.(580-582)gtC>gtA	p.V194V		NM_032329	NP_115705	Q8WYH8	ING5_HUMAN	Homo sapiens inhibitor of growth family, member 5 (ING5), mRNA.	194					DNA replication|histone H3 acetylation|negative regulation of cell proliferation|negative regulation of growth|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding			large_intestine(1)|lung(1)|skin(1)	3		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;2.16e-33)|all cancers(36;4.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)		GCCACCAGGTCTCCTATGGGG	0.612000														47			7		8.12818e-05	8.84769e-05	1	1	0
PTGER3	5733	broad.mit.edu	37	1	71512530	71512530	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:71512530A>G	uc001dfn.3	-	0	962	c.731T>C	c.(730-732)gTc>gCc	p.V244A	PTGER3_uc001dfg.1_Missense_Mutation_p.V244A|PTGER3_uc001dfh.1_Non-coding_Transcript|PTGER3_uc001dfi.1_Non-coding_Transcript|PTGER3_uc001dfk.1_Missense_Mutation_p.V244A|PTGER3_uc001dfj.1_Non-coding_Transcript|PTGER3_uc001dfl.1_Missense_Mutation_p.V244A|PTGER3_uc009wbm.1_Missense_Mutation_p.V244A|PTGER3_uc001dfm.1_Non-coding_Transcript|PTGER3_uc009wbn.2_Missense_Mutation_p.V244A|PTGER3_uc009wbo.3_Missense_Mutation_p.V244A|PTGER3_uc001dfo.3_Missense_Mutation_p.V244A|PTGER3_uc001dfp.1_Missense_Mutation_p.V244A|PTGER3_uc001dfq.3_Missense_Mutation_p.V244A|ZRANB2-AS1_uc001dfr.3_Non-coding_Transcript	NM_198716	NP_942009	P43115	PE2R3_HUMAN	Homo sapiens prostaglandin E receptor 3 (subtype EP3) (PTGER3), transcript variant 6, mRNA.	244					cell death|positive regulation of fever generation|transcription, DNA-dependent	integral to plasma membrane|nuclear envelope	ligand-dependent nuclear receptor activity|prostaglandin E receptor activity			endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25					Bimatoprost(DB00905)	GGAAAAGGTGACTGTCAGCGC	0.637000														52			27		0	0	1	0	0
PHF20L1	51105	broad.mit.edu	37	8	133854807	133854807	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:133854807G>A	uc003ytt.3	+	18	2760	c.2435G>A	c.(2434-2436)cGa>cAa	p.R812Q	PHF20L1_uc011lja.2_Missense_Mutation_p.R786Q	NM_016018	NP_057102	A8MW92	P20L1_HUMAN	Homo sapiens PHD finger protein 20-like 1 (PHF20L1), transcript variant 1, mRNA.	812							nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			TCCGGGAAGCGAAAAGACCAA	0.348000														28			17		0	0	1	0	0
KLHDC5	57542	broad.mit.edu	37	12	27933542	27933542	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:27933542C>T	uc001rij.3	+	0	356	c.279C>T	c.(277-279)gaC>gaT	p.D93D		NM_020782	NP_065833	Q9P2K6	KLDC5_HUMAN	Homo sapiens kelch domain containing 5 (KLHDC5), mRNA.	93										breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|urinary_tract(1)	23	Lung SC(9;0.0873)					TGGACGAGGACGAGGAGATGG	0.716000														15			10		0	0	1	0	0
SEC24A	10802	broad.mit.edu	37	5	133996919	133996919	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:133996919G>T	uc003kzs.3	+	1	500	c.208G>T	c.(208-210)Gtc>Ttc	p.V70F	SEC24A_uc021ydr.1_Missense_Mutation_p.V70F|SEC24A_uc011cxu.2_5'UTR	NM_021982	NP_068817	O95486	SC24A_HUMAN	Homo sapiens SEC24 family, member A (S. cerevisiae) (SEC24A), transcript variant 1, mRNA.	70					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|Golgi membrane|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	zinc ion binding			NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TTTGAATCCAGTCTCTGGACA	0.473000														204			17		4.7546e-09	5.62729e-09	1	1	0
POLL	27343	broad.mit.edu	37	10	103345153	103345153	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:103345153C>T	uc001ktg.1	-	2	1259	c.493G>A	c.(493-495)Gcc>Acc	p.A165T	DPCD_uc010qpz.2_Intron|POLL_uc001ktd.1_5'Flank|POLL_uc001kte.1_5'Flank|POLL_uc001kth.1_Intron|POLL_uc001ktj.2_Missense_Mutation_p.A165T|POLL_uc010qqb.2_Intron|POLL_uc001ktf.3_Missense_Mutation_p.A165T|POLL_uc001kti.2_Missense_Mutation_p.A165T|POLL_uc001ktl.3_Missense_Mutation_p.A77T|POLL_uc001ktm.3_Missense_Mutation_p.A165T|POLL_uc010qqc.2_Intron|POLL_uc010qqa.2_Intron|POLL_uc010qqd.2_Intron|DPCD_uc001ktn.3_5'Flank	NM_013274	NP_037406	Q9UGP5	DPOLL_HUMAN	Homo sapiens polymerase (DNA directed), lambda (POLL), transcript variant 2, mRNA.	165					DNA replication|nucleotide-excision repair|somatic hypermutation of immunoglobulin genes	nucleus	DNA binding|DNA-directed DNA polymerase activity|lyase activity|metal ion binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.234)		Epithelial(162;1.55e-08)|all cancers(201;6.64e-07)		GGAGAAAGGGCTGTCTGAAGC	0.597000								DNA polymerases (catalytic subunits)						42			24		0	0	1	0	0
KAT8	84148	broad.mit.edu	37	16	31131666	31131666	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:31131666G>A	uc002eay.3	+	2	311	c.293G>A	c.(292-294)cGg>cAg	p.R98Q	KAT8_uc002eax.3_Missense_Mutation_p.R98Q	NM_032188	NP_115564	Q9H7Z6	MYST1_HUMAN	Homo sapiens K(lysine) acetyltransferase 8 (KAT8), transcript variant 1, mRNA.	98	Chromo.				histone H4-K16 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex|MSL complex	histone acetyltransferase activity|metal ion binding|methylated histone residue binding|transcription factor binding	p.R98Q(1)									ACAGTTAACCGGCGGCTGGAC	0.577000														36			19		0	0	1	0	0
TMF1	7110	broad.mit.edu	37	3	69088055	69088055	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:69088055C>A	uc011bfx.2	-	6	2189	c.1942G>T	c.(1942-1944)Gac>Tac	p.D648Y	TMF1_uc003dnn.3_Missense_Mutation_p.D645Y	NM_007114	NP_009045	P82094	TMF1_HUMAN	Homo sapiens TATA element modulatory factor 1 (TMF1), mRNA.	645					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi membrane|nucleus	DNA binding|protein binding|transcription cofactor activity			cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		TCATCCATGTCTACCTGAAGA	0.373000														45			34		5.8336e-16	7.37176e-16	1	1	0
GPATCH2	55105	broad.mit.edu	37	1	217793349	217793349	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:217793349C>T	uc001hlf.1	-	1	645	c.549G>A	c.(547-549)caG>caA	p.Q183Q	GPATCH2_uc001hlg.4_Silent_p.Q183Q	NM_018040	NP_060510	Q9NW75	GPTC2_HUMAN	Homo sapiens G patch domain containing 2 (GPATCH2), mRNA.	183						intracellular	nucleic acid binding			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)	35				OV - Ovarian serous cystadenocarcinoma(81;0.0397)|all cancers(67;0.0744)|GBM - Glioblastoma multiforme(131;0.0872)		CCTCAGGTGGCTGGGTCATTG	0.433000														71			75		0	0	1	0	0
RNF2	6045	broad.mit.edu	37	1	185067296	185067296	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:185067296G>T	uc001grc.1	+	4	790	c.557G>T	c.(556-558)aGc>aTc	p.S186I	RNF2_uc001grd.1_Missense_Mutation_p.S114I	NM_007212	NP_009143	Q99496	RING2_HUMAN	Homo sapiens ring finger protein 2 (RNF2), mRNA.	186					histone H2A monoubiquitination|transcription, DNA-dependent	MLL1 complex|PcG protein complex|ubiquitin ligase complex	RING-like zinc finger domain binding|zinc ion binding			breast(3)|endometrium(2)|large_intestine(4)|lung(3)|skin(2)	14		Breast(1374;0.000496)		Colorectal(1306;6.9e-08)|KIRC - Kidney renal clear cell carcinoma(1967;8.12e-06)		TCCACACATAGCAATCAGGAA	0.433000														66			8		0.00307968	0.00322291	1	1	0
IFT122	55764	broad.mit.edu	37	3	129207235	129207235	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:129207235A>G	uc003eml.3	+	16	2346	c.2140A>G	c.(2140-2142)Aag>Gag	p.K714E	IFT122_uc003emm.3_Missense_Mutation_p.K663E|IFT122_uc003emn.3_Missense_Mutation_p.K604E|IFT122_uc003emo.3_Missense_Mutation_p.K552E|IFT122_uc003emp.3_Missense_Mutation_p.K513E|IFT122_uc010htc.3_Missense_Mutation_p.K655E|IFT122_uc011bky.2_Missense_Mutation_p.K454E|IFT122_uc011bla.2_Missense_Mutation_p.K454E|IFT122_uc003emr.3_Missense_Mutation_p.K454E|IFT122_uc010hte.3_Missense_Mutation_p.K43E|IFT122_uc003ems.3_Missense_Mutation_p.K62E|IFT122_uc011bkx.1_Missense_Mutation_p.K503E|IFT122_uc011bkz.1_Non-coding_Transcript|IFT122_uc010htd.1_Missense_Mutation_p.K142E	NM_052985	NP_443711	Q9HBG6	IF122_HUMAN	Homo sapiens intraflagellar transport 122 homolog (Chlamydomonas) (IFT122), transcript variant 1, mRNA.	663					camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						TGAAACAGCAAAGAAGGTAAG	0.522000														42			9		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140215580	140215580	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140215580C>T	uc003lhq.2	+	0	1612	c.1612C>T	c.(1612-1614)Cgc>Tgc	p.R538C	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.R538C	NM_018910	NP_061733	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 7 (PCDHA7), transcript variant 1, mRNA.	552	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)			GGTGAGCGCGCGCGATGCGGG	0.682000														77			40		0	0	1	0	0
NAA35	60560	broad.mit.edu	37	9	88576971	88576971	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:88576971C>T	uc004aoi.4	+	5	529	c.392C>T	c.(391-393)aCg>aTg	p.T131M	NAA35_uc004aoj.4_Missense_Mutation_p.T131M|NAA35_uc004aok.1_Missense_Mutation_p.T131M	NM_024635	NP_078911	Q5VZE5	NAA35_HUMAN	Homo sapiens N(alpha)-acetyltransferase 35, NatC auxiliary subunit (NAA35), mRNA.	131					smooth muscle cell proliferation	cytoplasm|nucleus|plasma membrane		p.T131M(2)		central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	25						ACAGTATTTACGTGCCTTTAC	0.363000														44			16		0	0	1	0	0
SSFA2	6744	broad.mit.edu	37	2	182780677	182780677	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:182780677C>A	uc002uoi.3	+	10	2632	c.2310C>A	c.(2308-2310)tcC>tcA	p.S770S	SSFA2_uc002uoh.3_Silent_p.S770S|SSFA2_uc002uoj.3_Silent_p.S770S|SSFA2_uc002uok.3_Non-coding_Transcript|SSFA2_uc010zfo.2_Silent_p.S617S|SSFA2_uc002uol.3_Silent_p.S617S|SSFA2_uc002uom.3_Silent_p.S238S	NM_001130445	NP_001123917	P28290	SSFA2_HUMAN	Homo sapiens sperm specific antigen 2 (SSFA2), transcript variant 1, mRNA.	770						cytoplasm|plasma membrane	actin binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			GCCCACCTTCCTTCACCTATA	0.453000														71			8		3.09899e-07	3.55757e-07	1	1	0
C11orf57	55216	broad.mit.edu	37	11	111953686	111953686	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:111953686A>G	uc001pmw.4	+	5	995	c.872A>G	c.(871-873)gAg>gGg	p.E291G	C11orf57_uc001pmr.4_Missense_Mutation_p.E290G|C11orf57_uc001pmt.4_Missense_Mutation_p.E291G|C11orf57_uc001pmv.4_Missense_Mutation_p.E290G|C11orf57_uc001pms.4_Missense_Mutation_p.E262G	NM_001082969	NP_060665	Q6ZUT1	CK057_HUMAN	Homo sapiens chromosome 11 open reading frame 57 (C11orf57), transcript variant 2, mRNA.	290										autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	12		all_cancers(61;9.8e-15)|all_epithelial(67;6.57e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;3.6e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;7.01e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0521)		GAGAGCTCAGAGGATGACTAA	0.433000														30			12		0	0	1	0	0
PRPS2	5634	broad.mit.edu	37	X	12837722	12837722	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:12837722C>T	uc004cva.3	+	4	779	c.636C>T	c.(634-636)ggC>ggT	p.G212G	PRPS2_uc004cvb.3_Silent_p.G209G|PRPS2_uc010nec.3_Intron	NM_001039091	NP_001034180	P11908	PRPS2_HUMAN	Homo sapiens phosphoribosyl pyrophosphate synthetase 2 (PRPS2), transcript variant 1, mRNA.	209	Binding of phosphoribosylpyrophosphate (Potential).				nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity	p.G209G(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	16						TCCTGGTGGGCGACGTGAAGG	0.557000														148			86		0	0	1	0	0
PIK3C2A	5286	broad.mit.edu	37	11	17113777	17113777	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:17113777C>T	uc001mmq.4	-	27	4563	c.4498G>A	c.(4498-4500)Gca>Aca	p.A1500T	PIK3C2A_uc009ygu.1_Missense_Mutation_p.A103T|PIK3C2A_uc010rcw.2_Missense_Mutation_p.A1120T|PIK3C2A_uc001mmr.3_Intron	NM_002645	NP_002636	O00443	P3C2A_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, alpha polypeptide (PIK3C2A), mRNA.	1500	PX.				cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	Golgi apparatus|clathrin-coated vesicle|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58					Phosphatidylserine(DB00144)	CTTTTGGCTGCTACATCTTTT	0.323000														24			19		0	0	1	0	0
SLC2A4RG	56731	broad.mit.edu	37	20	62374307	62374307	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:62374307C>T	uc002ygq.3	+	7	1183	c.1128C>T	c.(1126-1128)tgC>tgT	p.C376C	SLC2A4RG_uc002ygr.3_Silent_p.C271C|SLC2A4RG_uc011abj.2_Silent_p.C271C|SLC2A4RG_uc002ygs.3_Silent_p.C178C	NM_020062	NP_064446	Q9NR83	S2A4R_HUMAN	Homo sapiens SLC2A4 regulator (SLC2A4RG), mRNA.	376						cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|lung(2)|prostate(2)|skin(1)	7	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					GCACAGCCTGCCGCTGGAAGA	0.657000														4			8		0	0	1	0	0
ZNF562	54811	broad.mit.edu	37	19	9764264	9764264	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9764264C>A	uc002mly.3	-	5	858	c.642G>T	c.(640-642)aaG>aaT	p.K214N	ZNF562_uc010xks.2_Missense_Mutation_p.K214N|ZNF562_uc002mlx.3_Missense_Mutation_p.K142N|ZNF562_uc010xkt.2_Missense_Mutation_p.K177N|ZNF562_uc010xku.2_Missense_Mutation_p.K145N|ZNF562_uc010xkv.1_Missense_Mutation_p.K213N|ZNF562_uc010xkw.1_Missense_Mutation_p.K98N	NM_001130031	NP_001123504	Q6V9R5	ZN562_HUMAN	Homo sapiens zinc finger protein 562 (ZNF562), transcript variant 1, mRNA.	214					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	17						TTGCAAAATACTTAAAGCCTT	0.408000														47			16		3.45872e-05	3.81293e-05	1	1	0
LRGUK	136332	broad.mit.edu	37	7	133812281	133812281	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:133812281C>A	uc003vrm.1	+	0	177	c.161C>A	c.(160-162)tCt>tAt	p.S54Y		NM_144648	NP_653249	Q96M69	LRGUK_HUMAN	Homo sapiens leucine-rich repeats and guanylate kinase domain containing (LRGUK), mRNA.	54							ATP binding|kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						AAAGGCAGCTCTAACATAGCC	0.597000														87			8		0.0381472	0.0388409	1	1	0
ALOX15	246	broad.mit.edu	37	17	4540418	4540418	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:4540418C>T	uc002fyh.3	-	6	968	c.943G>A	c.(943-945)Gtc>Atc	p.V315I	ALOX15_uc010vsd.2_Missense_Mutation_p.V276I|ALOX15_uc010vse.2_Missense_Mutation_p.V337I	NM_001140	NP_001131	P16050	LOX15_HUMAN	Homo sapiens arachidonate 15-lipoxygenase (ALOX15), mRNA.	315	Lipoxygenase.				inflammatory response|leukotriene biosynthetic process	nucleus	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5)	20				READ - Rectum adenocarcinoma(115;0.0327)	Ciclopirox(DB01188)|Masoprocol(DB00179)|Zileuton(DB00744)	ACCTGGATGACCATGGGCAAG	0.517000														75			9		0	0	1	0	0
KIAA1274	27143	broad.mit.edu	37	10	72324206	72324206	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:72324206C>A	uc001jrd.4	+	18	2630	c.2349C>A	c.(2347-2349)ctC>ctA	p.L783L	KIAA1274_uc001jre.4_Silent_p.L74L	NM_014431	NP_055246	Q9ULE6	PALD_HUMAN	Homo sapiens KIAA1274 (KIAA1274), mRNA.	783										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(21)|ovary(2)|prostate(4)|urinary_tract(1)	36						GCCTGATTCTCTTCAACGCGT	0.637000														125			9		6.40141e-05	6.99953e-05	1	1	0
C17orf48	56985	broad.mit.edu	37	17	10614224	10614224	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:10614224C>T	uc002gmt.3	+	3	867	c.792C>T	c.(790-792)gtC>gtT	p.V264V	C17orf48_uc002gmv.3_Non-coding_Transcript|C17orf48_uc002gmu.3_Non-coding_Transcript	NM_020233	NP_064618	Q3LIE5	ADPRM_HUMAN	Homo sapiens chromosome 17 open reading frame 48 (C17orf48), mRNA.	264							ADP-ribose diphosphatase activity|CDP-glycerol diphosphatase activity|metal ion binding			breast(3)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	11						CCCTGGCAGTCATTTGGTCTC	0.483000														47			27		0	0	1	0	0
PPFIBP2	8495	broad.mit.edu	37	11	7670067	7670067	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:7670067C>T	uc001mfj.4	+	18	2222	c.1834C>T	c.(1834-1836)Ctt>Ttt	p.L612F	PPFIBP2_uc010rbb.1_Missense_Mutation_p.L535F|PPFIBP2_uc001mfk.1_Intron|PPFIBP2_uc010rbc.2_Missense_Mutation_p.L546F|PPFIBP2_uc010rbe.2_Missense_Mutation_p.L500F|PPFIBP2_uc001mfl.4_Missense_Mutation_p.L469F|PPFIBP2_uc009yfj.1_Missense_Mutation_p.L256F	NM_003621	NP_003612	Q8ND30	LIPB2_HUMAN	Homo sapiens PTPRF interacting protein, binding protein 2 (liprin beta 2) (PPFIBP2), mRNA.	612	SAM 1.				DNA integration|cell communication	intracellular	DNA binding|integrase activity|protein binding			breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)		CAGGAAGAAGCTTGTTTTAGC	0.428000														106			78		0	0	1	0	0
NCF2	4688	broad.mit.edu	37	1	183536117	183536117	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:183536117G>A	uc001gqj.4	-	8	1137	c.862C>T	c.(862-864)Ctt>Ttt	p.L288F	NCF2_uc010pod.2_Missense_Mutation_p.L243F|NCF2_uc010poe.2_Missense_Mutation_p.L207F|NCF2_uc001gqk.4_Missense_Mutation_p.L288F	NM_000433	NP_001121123	P19878	NCF2_HUMAN	Homo sapiens neutrophil cytosolic factor 2 (NCF2), transcript variant 1, mRNA.	288	SH3 1.				cellular defense response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex|nucleolus	electron carrier activity|protein C-terminus binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30						CAGGGAACAAGCCCCTTCTGC	0.537000														44			4		0	0	1	0	0
IFT81	28981	broad.mit.edu	37	12	110566865	110566865	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:110566865G>A	uc001tqi.3	+	3	489	c.359G>A	c.(358-360)cGt>cAt	p.R120H	IFT81_uc001tqh.3_Missense_Mutation_p.R120H|IFT81_uc001tqj.3_Non-coding_Transcript|IFT81_uc001tqg.3_Missense_Mutation_p.R120H	NM_001143779	NP_054774	Q8WYA0	IFT81_HUMAN	Homo sapiens intraflagellar transport 81 homolog (Chlamydomonas) (IFT81), transcript variant 3, mRNA.	120					cell differentiation|multicellular organismal development|spermatogenesis	intraflagellar transport particle B|microtubule-based flagellum				endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)	10						TATTTAGCTCGTTTTTTAATA	0.383000														35			29		0	0	1	0	0
UGGT1	56886	broad.mit.edu	37	2	128900742	128900742	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:128900742G>A	uc002tps.3	+	16	1972	c.1794G>A	c.(1792-1794)ccG>ccA	p.P598P	UGGT1_uc010fme.1_Silent_p.P473P|UGGT1_uc002tpr.3_Silent_p.P574P	NM_020120	NP_064505	Q9NYU2	UGGG1_HUMAN	Homo sapiens UDP-glucose glycoprotein glucosyltransferase 1 (UGGT1), transcript variant 1, mRNA.	598					'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	ER-Golgi intermediate compartment|endoplasmic reticulum lumen	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						AGAAATATCCGTATGTAGAAG	0.353000														59			41		0	0	1	0	0
TIMM21	29090	broad.mit.edu	37	18	71825417	71825417	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:71825417A>G	uc010dqr.1	+	4	846	c.548A>G	c.(547-549)tAt>tGt	p.Y183C		NM_014177	NP_054896	Q9BVV7	TI21L_HUMAN	Homo sapiens translocase of inner mitochondrial membrane 21 homolog (yeast) (TIMM21), nuclear gene encoding mitochondrial protein, mRNA.	183					protein transport|transmembrane transport	integral to membrane|mitochondrial membrane											TTCACTGAATATGTAAAAGAT	0.453000														35			5		0	0	1	0	0
ARGLU1	55082	broad.mit.edu	37	13	107211822	107211822	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:107211822C>T	uc001vqk.4	-	1	778	c.531G>A	c.(529-531)gaG>gaA	p.E177E	ARGLU1_uc010age.1_Silent_p.E10E	NM_018011	NP_060481	Q9NWB6	ARGL1_HUMAN	Homo sapiens arginine and glutamate rich 1 (ARGLU1), mRNA.	177	Glu-rich.									large_intestine(1)|lung(5)|pancreas(1)	7	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					GTCTCTGTCGCTCGAGTTCTT	0.483000														43			34		0	0	1	0	0
C19orf26	255057	broad.mit.edu	37	19	1231256	1231256	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:1231256T>C	uc002lrm.2	-	8	1255	c.980A>G	c.(979-981)cAc>cGc	p.H327R		NM_152769	NP_689982	Q8N350	DOS_HUMAN	Homo sapiens chromosome 19 open reading frame 26 (C19orf26), mRNA.	353						integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCGCTGGAAGTGGTGCCGCTT	0.682000										HNSCC(14;0.022)				55			6		0	0	1	0	0
DNHD1	144132	broad.mit.edu	37	11	6524151	6524151	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6524151C>T	uc001mdw.4	+	3	1479	c.915C>T	c.(913-915)taC>taT	p.Y305Y	DNHD1_uc001mdp.3_Silent_p.Y305Y	NM_144666	NP_653267	Q96M86	DNHD1_HUMAN	Homo sapiens dynein heavy chain domain 1 (DNHD1), transcript variant 1, mRNA.	305					microtubule-based movement	dynein complex	microtubule motor activity	p.R304W(1)		NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CCAGCCGGTACTTTAGGTGAT	0.532000														15			15		0	0	1	0	0
HAX1	10456	broad.mit.edu	37	1	154245846	154245846	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:154245846G>T	uc010peo.2	+	1	249	c.88G>T	c.(88-90)Gat>Tat	p.D30Y	HAX1_uc001fet.3_Intron|HAX1_uc001fes.3_Missense_Mutation_p.D30Y|HAX1_uc009wou.3_5'UTR	NM_006118	NP_006109	O00165	HAX1_HUMAN	Homo sapiens HCLS1 associated protein X-1 (HAX1), transcript variant 1, mRNA.	30	Asp/Glu-rich (highly acidic).|Required for localization in mitochondria (By similarity).					actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction	interleukin-1 binding|protein N-terminus binding			cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GATGACTCGAGATGAAGATGA	0.493000									Kostmann syndrome					65			29		2.08973e-25	2.73565e-25	1	1	0
PRPF4B	8899	broad.mit.edu	37	6	4050046	4050046	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:4050046C>T	uc003mvv.3	+	8	2198	c.2107C>T	c.(2107-2109)Cga>Tga	p.R703*	PRPF4B_uc003mvw.3_Non-coding_Transcript|PRPF4B_uc011dhv.1_Non-coding_Transcript	NM_003913	NP_003904	Q13523	PRP4B_HUMAN	Homo sapiens PRP4 pre-mRNA processing factor 4 homolog B (yeast) (PRPF4B), mRNA.	703	Protein kinase.					catalytic step 2 spliceosome	ATP binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	22	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				TAATGTTGTACGAGCCAGAGA	0.398000														38			21		0	0	1	0	0
GTF3C1	2975	broad.mit.edu	37	16	27518347	27518347	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:27518347A>G	uc002dov.2	-	8	1413	c.1373T>C	c.(1372-1374)cTg>cCg	p.L458P	GTF3C1_uc002dou.3_Missense_Mutation_p.L458P	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 1, alpha 220kDa (GTF3C1), mRNA.	458						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						CATAGACGCCAGGCTCACGGT	0.597000														37			5		0	0	1	0	0
GPAA1	8733	broad.mit.edu	37	8	145139718	145139718	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:145139718C>T	uc003zax.3	+	7	1214	c.1104C>T	c.(1102-1104)ttC>ttT	p.F368F	GPAA1_uc003zav.1_Silent_p.F246F|GPAA1_uc003zaw.1_Silent_p.F308F	NM_003801	NP_003792	O43292	GPAA1_HUMAN	Homo sapiens glycosylphosphatidylinositol anchor attachment protein 1 homolog (yeast) (GPAA1), mRNA.	368					C-terminal protein lipidation|attachment of GPI anchor to protein|protein complex assembly|protein retention in ER lumen	GPI-anchor transamidase complex	tubulin binding	p.R367C(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(2)	19	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-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;3.38e-41)|Epithelial(56;6.02e-40)|all cancers(56;2.11e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TCTCCCGCTTCGTCTCCATCG	0.607000														69			24		0	0	1	0	0
ANKRD27	84079	broad.mit.edu	37	19	33092956	33092956	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:33092956C>T	uc002ntn.1	-	25	2888	c.2732G>A	c.(2731-2733)cGc>cAc	p.R911H		NM_032139	NP_115515	Q96NW4	ANR27_HUMAN	Homo sapiens ankyrin repeat domain 27 (VPS9 domain) (ANKRD27), mRNA.	911					early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity			breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					ATACTCCTTGCGGTCAGTTTC	0.383000														102			37		0	0	1	0	0
EPX	8288	broad.mit.edu	37	17	56274504	56274504	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:56274504G>A	uc002ivq.3	+	6	1125	c.1006G>A	c.(1006-1008)Gcc>Acc	p.A336T		NM_000502	NP_000493	P11678	PERE_HUMAN	Homo sapiens eosinophil peroxidase (EPX), mRNA.	336					hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48						GGGGCTGCTGGCCATCAACCA	0.647000														48			25		0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32016145	32016145	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:32016145C>A	uc003nzl.2	-	28	10236	c.10034G>T	c.(10033-10035)aGg>aTg	p.R3345M	TNXB_uc003nzg.1_5'Flank|TNXB_uc003nzh.1_5'Flank	NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	3392	Fibronectin type-III 25.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CTCACCGGTCCTGGCCTCCAC	0.657000														18			5		1.23904e-05	1.3743e-05	1	1	0
CNST	163882	broad.mit.edu	37	1	246805289	246805289	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:246805289T>C	uc001ibp.3	+	7	1265	c.887T>C	c.(886-888)tTa>tCa	p.L296S	CNST_uc001ibo.4_Missense_Mutation_p.L296S	NM_152609	NP_689822	Q6PJW8	CNST_HUMAN	Homo sapiens consortin, connexin sorting protein (CNST), transcript variant 1, mRNA.	296					positive regulation of Golgi to plasma membrane protein transport	integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle	connexin binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2)	28						TCCACGCAGTTACTAGTGTCT	0.408000														18			6		0	0	1	0	0
KIAA1377	57562	broad.mit.edu	37	11	101793417	101793417	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:101793417G>T	uc001pgm.3	+	1	444	c.174G>T	c.(172-174)caG>caT	p.Q58H	KIAA1377_uc001pgn.3_Missense_Mutation_p.Q14H	NM_020802	NP_065853	Q9P2H0	K1377_HUMAN	Homo sapiens KIAA1377 (KIAA1377), mRNA.	58							protein binding	p.R57C(1)		breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		AAGAGCGCCAGATATTACTGC	0.338000														26			21		8.10497e-08	9.41436e-08	1	1	0
RNF126	55658	broad.mit.edu	37	19	648907	648907	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:648907G>A	uc010drs.3	-	6	757	c.645C>T	c.(643-645)acC>acT	p.T215T		NM_194460	NP_919442	Q9BV68	RN126_HUMAN	Homo sapiens ring finger protein 126 (RNF126), mRNA.	215							protein binding|zinc ion binding			lung(1)	1		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGACGGGGACGGTGGGGAGGG	0.572000														8			5		0	0	1	0	0
TESPA1	9840	broad.mit.edu	37	12	55356410	55356410	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:55356410A>G	uc010spd.1	-	8	1405	c.1272T>C	c.(1270-1272)caT>caC	p.H424H	TESPA1_uc001sgl.3_Silent_p.H286H|TESPA1_uc001sgm.3_Silent_p.H171H|TESPA1_uc010spb.1_Silent_p.H171H|TESPA1_uc010spc.1_Silent_p.H286H|TESPA1_uc001sgn.3_Silent_p.H424H	NM_001136030	NP_001092285	A2RU30	K0748_HUMAN	Homo sapiens KIAA0748 (KIAA0748), mRNA.	424																	CCTTGGCTGGATGGGTTTCCG	0.498000														138			19		0	0	1	0	0
VSTM2A	222008	broad.mit.edu	37	7	54612359	54612359	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:54612359C>T	uc022adk.1	+	1	529	c.124C>T	c.(124-126)Cag>Tag	p.Q42*	VSTM2A_uc010kzf.3_Nonsense_Mutation_p.Q42*	NM_182546	NP_872352	Q8TAG5	VTM2A_HUMAN	Homo sapiens V-set and transmembrane domain containing 2A (VSTM2A), mRNA.	42	Ig-like V-type.					extracellular region				endometrium(1)|large_intestine(2)|lung(12)|prostate(1)	16			STAD - Stomach adenocarcinoma(5;0.0525)			GACCGAGGGGCAGAATGTGGA	0.592000														54			10		0	0	1	0	0
MAGI3	260425	broad.mit.edu	37	1	114196468	114196468	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:114196468C>T	uc001edk.3	+	14	2638	c.2457C>T	c.(2455-2457)gaC>gaT	p.D819D	MAGI3_uc001edh.3_Silent_p.D844D|MAGI3_uc001edi.4_Silent_p.D819D|MAGI3_uc010owm.2_Silent_p.D844D|MAGI3_uc001edj.3_Silent_p.D540D	NM_001142782	NP_001136254	Q5TCQ9	MAGI3_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 3 (MAGI3), transcript variant 1, mRNA.	844	Interaction with BAI1.|PDZ 4.				apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AACCCGAGGACGACAGCTCTC	0.478000														169			17		0	0	1	0	0
GPSM2	29899	broad.mit.edu	37	1	109445823	109445823	+	Missense_Mutation	SNP	T	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:109445823T>A	uc010ovc.2	+	8	1525	c.1029T>A	c.(1027-1029)caT>caA	p.H343Q	AKNAD1_uc010ovb.2_Intron|GPSM2_uc010ovd.2_Missense_Mutation_p.H343Q|GPSM2_uc010ove.1_Missense_Mutation_p.H343Q	NM_013296	NP_037428	P81274	GPSM2_HUMAN	Homo sapiens G-protein signaling modulator 2 (GPSM2), mRNA.	343					G-protein coupled receptor protein signaling pathway	cell cortex|nucleus	GTPase activator activity|identical protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)	14		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0353)|Lung(183;0.0984)|COAD - Colon adenocarcinoma(174;0.129)|Epithelial(280;0.175)|all cancers(265;0.209)		AAGCAATGCATTTTGCTGAAA	0.373000														27			42		0	0	1	0	0
MMP25	64386	broad.mit.edu	37	16	3097548	3097548	+	Splice_Site	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:3097548G>A	uc002cth.3	+	2	469	c.232_splice	c.e2+1	p.D78_splice	MMP25_uc002cti.1_Splice_Site_p.D14_splice	NM_022468	NP_071913	Q9NPA2	MMP25_HUMAN	Homo sapiens matrix metallopeptidase 25 (MMP25), mRNA.	78					inflammatory response|proteolysis	anchored to membrane|cell surface|plasma membrane|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	14						CGGCCGCATGGGTAGGTGGCC	0.667000														27			17		0	0	1	0	0
ADAMTSL4	54507	broad.mit.edu	37	1	150525680	150525680	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:150525680G>A	uc009wlw.3	+	3	543	c.385G>A	c.(385-387)Gct>Act	p.A129T	ADAMTSL4_uc001euw.3_Missense_Mutation_p.A129T|ADAMTSL4_uc001eux.3_Missense_Mutation_p.A129T|ADAMTSL4_uc010pcg.2_Missense_Mutation_p.A129T	NM_019032	NP_061905	Q6UY14	ATL4_HUMAN	Homo sapiens ADAMTS-like 4 (ADAMTSL4), transcript variant 1, mRNA.	129					apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			TCGAGGTCCCGCTTCCCACCT	0.662000														41			23		0	0	1	0	0
NUMA1	4926	broad.mit.edu	37	11	71726695	71726695	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:71726695C>A	uc001orl.1	-	14	2026	c.1854G>T	c.(1852-1854)gaG>gaT	p.E618D	NUMA1_uc009ysw.1_Missense_Mutation_p.E181D|NUMA1_uc001ork.1_Intron|NUMA1_uc001orm.1_Missense_Mutation_p.E618D|NUMA1_uc001orn.2_Missense_Mutation_p.E181D|NUMA1_uc009ysx.1_Missense_Mutation_p.E618D|NUMA1_uc001oro.1_Missense_Mutation_p.E618D	NM_006185	NP_006176	Q14980	NUMA1_HUMAN	Homo sapiens nuclear mitotic apparatus protein 1 (NUMA1), mRNA.	618					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						GCTGCAGAATCTCCAGCTTGG	0.622000			T	RARA	APL									33			4		0.00909568	0.00940365	1	1	0
TMPPE	643853	broad.mit.edu	37	3	33135232	33135232	+	Silent	SNP	G	A	A	rs148801297		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:33135232G>A	uc003cfk.2	-	1	668	c.456C>T	c.(454-456)gtC>gtT	p.V152V	GLB1_uc003cfh.1_Intron|GLB1_uc003cfi.1_Intron|GLB1_uc003cfj.1_Intron|GLB1_uc011axk.1_Intron|TMPPE_uc011axl.1_Silent_p.V15V|TMPPE_uc021wux.1_Silent_p.V152V	NM_001039770	NP_001129710	Q6ZT21	TMPPE_HUMAN	Homo sapiens transmembrane protein with metallophosphoesterase domain (TMPPE), transcript variant 1, mRNA.	152						integral to membrane	metal ion binding			breast(1)|large_intestine(5)|lung(6)|prostate(1)	13						GGCTGCCCACGACCCTACCAC	0.612000														7			9		0	0	1	0	0
GPR158	57512	broad.mit.edu	37	10	25464695	25464695	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:25464695G>A	uc001isj.3	+	0	406	c.346G>A	c.(346-348)Gcc>Acc	p.A116T	LOC100128811_uc010qde.1_Missense_Mutation_p.A86V	NM_020752	NP_065803	Q5T848	GP158_HUMAN	Homo sapiens G protein-coupled receptor 158 (GPR158), mRNA.	116						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						GCCAGCCCTGGCCAGCGCGCA	0.657000														39			28		0	0	1	0	0
MAGEC3	139081	broad.mit.edu	37	X	140984681	140984681	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:140984681G>A	uc011mwp.2	+	6	1137	c.1137G>A	c.(1135-1137)atG>atA	p.M379I	MAGEC3_uc004fbs.3_Missense_Mutation_p.M81I|MAGEC3_uc010nsj.3_Missense_Mutation_p.M81I|MAGEC3_uc022cfh.1_Missense_Mutation_p.M81I	NM_138702	NP_619647	Q8TD91	MAGC3_HUMAN	Homo sapiens melanoma antigen family C, 3 (MAGEC3), transcript variant 1, mRNA.	379	MAGE 1.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					ATGAGGATATGCCTGCTGCTG	0.567000														2			3		0	0	1	0	0
CFP	5199	broad.mit.edu	37	X	47485822	47485822	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:47485822C>T	uc004dih.3	-	7	1279	c.1037G>A	c.(1036-1038)cGc>cAc	p.R346H	CFP_uc004dig.4_Missense_Mutation_p.R346H|CFP_uc004dii.1_Missense_Mutation_p.R282H|CFP_uc010nhu.2_Missense_Mutation_p.R346H	NM_002621	NP_002612	P27918	PROP_HUMAN	Homo sapiens complement factor properdin (CFP), transcript variant 1, mRNA.	346	TSP type-1 5.				complement activation, alternative pathway|defense response to bacterium	extracellular space		p.R346H(2)		breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	18						GGTCCTCCCGCGTGACTGCTG	0.622000														19			12		0	0	1	0	0
KIAA1755	85449	broad.mit.edu	37	20	36869797	36869797	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:36869797G>A	uc002xhy.1	-	2	1008	c.736C>T	c.(736-738)Cca>Tca	p.P246S	KIAA1755_uc002xhz.1_Missense_Mutation_p.P246S	NM_001029864	NP_001025035	Q5JYT7	K1755_HUMAN	Homo sapiens KIAA1755 (KIAA1755), mRNA.	246								p.P246A(2)		breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				ATGAGTCCTGGATACTTGCTC	0.592000														36			26		0	0	1	0	0
NAPG	8774	broad.mit.edu	37	18	10550152	10550152	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:10550152C>A	uc002kon.3	+	11	1101	c.874C>A	c.(874-876)Cct>Act	p.P292T	NAPG_uc010wzr.2_Missense_Mutation_p.P210T|NAPG_uc002kop.3_Missense_Mutation_p.P205T	NM_003826	NP_003817	Q99747	SNAG_HUMAN	Homo sapiens N-ethylmaleimide-sensitive factor attachment protein, gamma (NAPG), mRNA.	292					cellular membrane fusion|intra-Golgi vesicle-mediated transport|intracellular protein transport|protein complex assembly|protein stabilization	membrane|membrane fraction|mitochondrion	protein binding			large_intestine(2)|lung(2)	4						ACAGGCCAAGCCTGATGGTGT	0.478000														16			9		1.12685e-05	1.25391e-05	1	1	0
POLR1B	84172	broad.mit.edu	37	2	113326468	113326468	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:113326468A>G	uc002thw.2	+	11	2643	c.2063A>G	c.(2062-2064)cAa>cGa	p.Q688R	POLR1B_uc010fkn.2_Missense_Mutation_p.Q632R|POLR1B_uc002thx.2_Missense_Mutation_p.Q549R|POLR1B_uc010fko.2_Missense_Mutation_p.Q505R|POLR1B_uc010fkp.2_Missense_Mutation_p.Q127R|POLR1B_uc002thy.2_Missense_Mutation_p.Q549R|POLR1B_uc010yxo.1_Missense_Mutation_p.Q465R	NM_019014	NP_061887	Q9H9Y6	RPA2_HUMAN	Homo sapiens polymerase (RNA) I polypeptide B, 128kDa (POLR1B), transcript variant 1, mRNA.	688					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						AACATGTACCAATGCCAGATG	0.438000														27			3		0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	70972621	70972621	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:70972621C>T	uc002ezr.3	-	43	7039	c.6888G>A	c.(6886-6888)gaG>gaA	p.E2296E		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	2297										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TTTGGAGACGCTCCTTCTCTT	0.532000														23			12		0	0	1	0	0
OR7C1	26664	broad.mit.edu	37	19	14910065	14910065	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:14910065G>A	uc010xnz.2	-	0	884	c.884C>T	c.(883-885)aCg>aTg	p.T295M		NM_198944	NP_945182	O76099	OR7C1_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily C, member 1 (OR7C1), mRNA.	295					sensory perception of smell|spermatogenesis	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(2)|ovary(2)|prostate(1)	18						CTTCATGTCCGTGTTCCTCAG	0.517000														31			27		0	0	1	0	0
KIF13A	63971	broad.mit.edu	37	6	17826109	17826109	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:17826109G>A	uc003ncg.4	-	15	1836	c.1676C>T	c.(1675-1677)aCg>aTg	p.T559M	KIF13A_uc003ncf.3_Missense_Mutation_p.T559M|KIF13A_uc003nch.4_Missense_Mutation_p.T559M|KIF13A_uc003nci.4_Missense_Mutation_p.T559M|KIF13A_uc003ncj.3_Missense_Mutation_p.T235M	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	Homo sapiens kinesin family member 13A (KIF13A), transcript variant 1, mRNA.	559					Golgi to plasma membrane protein transport|cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			TGGCGGGCCCGTTTCTTTTTC	0.423000														88			41		0	0	1	0	0
PRSS38	339501	broad.mit.edu	37	1	228033778	228033778	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:228033778T>G	uc001hrh.3	+	4	850	c.850T>G	c.(850-852)Ttc>Gtc	p.F284V		NM_183062	NP_898885	A1L453	PRS38_HUMAN	Homo sapiens protease, serine, 38 (PRSS38), mRNA.	284	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						TGTTTCCTATTTCTCAAAATG	0.532000														24			23		0	0	1	0	0
TRPM4	54795	broad.mit.edu	37	19	49671579	49671579	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:49671579C>T	uc002pmw.3	+	4	619	c.511C>T	c.(511-513)Cgg>Tgg	p.R171W	TRPM4_uc010emu.3_Missense_Mutation_p.R171W|TRPM4_uc010yak.2_5'UTR|TRPM4_uc002pmx.3_5'UTR|TRPM4_uc010emv.3_Intron|TRPM4_uc010yal.2_Intron	NM_017636	NP_060106	Q8TD43	TRPM4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 4 (TRPM4), transcript variant 1, mRNA.	171					dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	Golgi apparatus|endoplasmic reticulum|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		TGTGGCTGTACGGGACCATCA	0.637000														60			45		0	0	1	0	0
MRPL37	51253	broad.mit.edu	37	1	54681864	54681864	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:54681864G>A	uc001cxa.4	+	5	1118	c.1041G>A	c.(1039-1041)acG>acA	p.T347T	MRPL37_uc009vzp.3_Silent_p.T216T	NM_016491	NP_057575	Q9BZE1	RM37_HUMAN	Homo sapiens mitochondrial ribosomal protein L37 (MRPL37), nuclear gene encoding mitochondrial protein, mRNA.	347					translation	mitochondrial ribosome	structural constituent of ribosome	p.T347M(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(4)|skin(2)	19						GCGTGGGCACGGATGGACGTG	0.517000														78			35		0	0	1	0	0
ARCN1	372	broad.mit.edu	37	11	118471374	118471374	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:118471374C>T	uc009zag.3	+	10	1806	c.1604C>T	c.(1603-1605)cCc>cTc	p.P535L	ARCN1_uc001ptq.3_Missense_Mutation_p.P494L|ARCN1_uc010ryg.2_Missense_Mutation_p.P406L	NM_001142281	NP_001135753	P48444	COPD_HUMAN	Homo sapiens archain 1 (ARCN1), transcript variant 2, mRNA.	494					COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|clathrin adaptor complex|cytosol				endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|urinary_tract(1)	13	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		GGAAACAGCCCCGTCAGGTTT	0.393000														260			18		0	0	1	0	0
TNFRSF11A	8792	broad.mit.edu	37	18	60029004	60029004	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:60029004G>T	uc002lin.3	+	6	746	c.708G>T	c.(706-708)agG>agT	p.R236S	TNFRSF11A_uc010dpv.3_Intron	NM_003839	NP_003830	Q9Y6Q6	TNR11_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 11a, NFKB activator (TNFRSF11A), mRNA.	236					adaptive immune response|cell-cell signaling|circadian temperature homeostasis|monocyte chemotaxis|osteoclast differentiation|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of cell proliferation|positive regulation of fever generation by positive regulation of prostaglandin secretion|response to interleukin-1|response to lipopolysaccharide	external side of plasma membrane|integral to membrane	metal ion binding|tumor necrosis factor receptor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(13)|skin(3)|upper_aerodigestive_tract(1)	29		Colorectal(73;0.188)				TTTGCTATAGGAAAAAAGGGA	0.423000														101			84		7.83748e-43	1.04243e-42	1	1	0
BRDT	676	broad.mit.edu	37	1	92442855	92442855	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:92442855G>A	uc001dol.4	+	6	1292	c.874G>A	c.(874-876)Gca>Aca	p.A292T	BRDT_uc010osz.2_Missense_Mutation_p.A296T|BRDT_uc001dok.4_Missense_Mutation_p.A292T|BRDT_uc009wdf.3_Missense_Mutation_p.A219T|BRDT_uc010otb.2_Missense_Mutation_p.A246T|BRDT_uc010ota.2_Missense_Mutation_p.A246T|BRDT_uc001dom.4_Missense_Mutation_p.A292T	NM_001242805	NP_001229734	Q58F21	BRDT_HUMAN	Homo sapiens bromodomain, testis-specific (BRDT), transcript variant 3, mRNA.	292	Bromo 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		TTTTTCATATGCATGGCCCTT	0.343000														92			59		0	0	1	0	0
MYH7B	57644	broad.mit.edu	37	20	33568472	33568472	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:33568472G>A	uc002xbi.2	+	7	877	c.560G>A	c.(559-561)cGc>cAc	p.R187H	MYH7B_uc010gfa.1_Missense_Mutation_p.R145H	NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	Homo sapiens myosin, heavy chain 7B, cardiac muscle, beta (MYH7B), mRNA.	145	Myosin head-like.					membrane|myosin filament	ATP binding|actin binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			AAGGGAAAGCGCCGCTCAGAT	0.582000														58			40		0	0	1	0	0
DENND2A	27147	broad.mit.edu	37	7	140287481	140287481	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:140287481C>T	uc010lnk.3	-	3	1615	c.1095G>A	c.(1093-1095)tcG>tcA	p.S365S	DENND2A_uc011kre.2_Non-coding_Transcript|DENND2A_uc010lnj.3_Silent_p.S365S|DENND2A_uc003vvw.3_Silent_p.S365S|DENND2A_uc003vvx.3_Silent_p.S365S	NM_015689	NP_056504	Q9ULE3	DEN2A_HUMAN	Homo sapiens DENN/MADD domain containing 2A (DENND2A), mRNA.	365										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					CGTTCTCCTCCGATAAAGTGC	0.527000														114			25		0	0	1	0	0
PREB	10113	broad.mit.edu	37	2	27355486	27355486	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:27355486C>T	uc002rix.1	-	4	990	c.737G>A	c.(736-738)cGc>cAc	p.R246H	PREB_uc002riy.1_Missense_Mutation_p.R174H	NM_013388	NP_037520	Q9HCU5	PREB_HUMAN	Homo sapiens prolactin regulatory element binding (PREB), mRNA.	246					COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane|nucleus	DNA binding|guanyl-nucleotide exchange factor activity|protein binding	p.R246C(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGCCTGGTAGCGGTAAGGTGT	0.587000														23			11		0	0	1	0	0
DLC1	10395	broad.mit.edu	37	8	13357024	13357024	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:13357024G>T	uc003wwm.2	-	1	1001	c.557C>A	c.(556-558)tCt>tAt	p.S186Y	DLC1_uc003wwn.3_Missense_Mutation_p.S186Y|DLC1_uc011kxy.2_Missense_Mutation_p.S186Y	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	Homo sapiens deleted in liver cancer 1 (DLC1), transcript variant 1, mRNA.	186					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of Rho protein signal transduction|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						TTTACTTATAGAGTCAGTAAC	0.363000														93			56		4.58403e-41	6.09372e-41	1	1	0
PCDHB10	56126	broad.mit.edu	37	5	140572975	140572975	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140572975G>A	uc003lix.3	+	0	1024	c.850G>A	c.(850-852)Gcc>Acc	p.A284T		NM_018930	NP_061753	Q9UN67	PCDBA_HUMAN	Homo sapiens protocadherin beta 10 (PCDHB10), mRNA.	284	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATTTTTTGATGCCTCAGAAAA	0.378000														52			30		0	0	1	0	0
DPF1	8193	broad.mit.edu	37	19	38703001	38703001	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:38703001C>T	uc021uty.1	-	10	1150	c.1123G>A	c.(1123-1125)Gac>Aac	p.D375N	DPF1_uc002ohm.3_Splice_Site_p.D365_splice|DPF1_uc002ohl.3_Missense_Mutation_p.D331N|DPF1_uc002ohn.3_Splice_Site_p.D283_splice	NM_001135155	NP_001128627	Q92782	DPF1_HUMAN	Homo sapiens D4, zinc and double PHD fingers family 1 (DPF1), transcript variant 1, mRNA.	331					induction of apoptosis|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nBAF complex	zinc ion binding			large_intestine(1)|lung(4)|ovary(1)|skin(1)	7	all_cancers(60;1.24e-06)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			AGCAGCTGGTCCTGGGGGGTG	0.687000														7			8		0	0	1	0	0
KAZN	23254	broad.mit.edu	37	1	15382733	15382733	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:15382733G>A	uc001avm.4	+	4	1154	c.873G>A	c.(871-873)caG>caA	p.Q291Q	KAZN_uc009vog.1_Silent_p.Q291Q|KAZN_uc001avo.2_Silent_p.Q285Q|KAZN_uc001avp.2_Silent_p.Q197Q|KAZN_uc001avq.2_Silent_p.Q197Q|KAZN_uc001avr.2_Silent_p.Q194Q	NM_201628	NP_963922	Q674X7	KAZRN_HUMAN	Homo sapiens kazrin, periplakin interacting protein (KAZN), transcript variant E, mRNA.	291	Interaction with PPL.				keratinization	cornified envelope|cytoplasm|desmosome|nucleus				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(1)|prostate(2)	25						AGAGTCAACAGACTCTCTACC	0.667000														20			12		0	0	1	0	0
QRICH2	84074	broad.mit.edu	37	17	74288647	74288647	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:74288647C>T	uc002jrd.1	-	3	1843	c.1663G>A	c.(1663-1665)Gct>Act	p.A555T	QRICH2_uc010dgw.1_Intron	NM_032134	NP_115510	Q9H0J4	QRIC2_HUMAN	Homo sapiens glutamine rich 2 (QRICH2), mRNA.	555	Gln-rich.						protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						CCAGGTTGAGCCAAATCACTC	0.532000														33			16		0	0	1	0	0
SMC6	79677	broad.mit.edu	37	2	17889964	17889964	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:17889964G>A	uc002rco.3	-	16	2083	c.1787C>T	c.(1786-1788)gCg>gTg	p.A596V	SMC6_uc010exo.3_Missense_Mutation_p.A596V|SMC6_uc002rcn.3_Missense_Mutation_p.A596V|SMC6_uc002rcp.1_Missense_Mutation_p.A622V|SMC6_uc002rcq.2_Missense_Mutation_p.A622V	NM_001142286	NP_078900	Q96SB8	SMC6_HUMAN	Homo sapiens structural maintenance of chromosomes 6 (SMC6), transcript variant 1, mRNA.	596	Flexible hinge.				DNA recombination|DNA repair	chromosome|nucleus	ATP binding			NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TGCCACAACCGCATTATCTAT	0.358000														46			28		0	0	1	0	0
NLRC3	197358	broad.mit.edu	37	16	3592765	3592765	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:3592765T>C	uc010btn.3	-	18	3358	c.2947A>G	c.(2947-2949)Aat>Gat	p.N983D		NM_178844	NP_849172	Q7RTR2	NLRC3_HUMAN	Homo sapiens NLR family, CARD domain containing 3 (NLRC3), mRNA.	984					I-kappaB kinase/NF-kappaB cascade|T cell activation|negative regulation of NF-kappaB transcription factor activity	cytoplasm	ATP binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CCAATGGCATTTCCTCTTAAG	0.557000														9			3		0	0	1	0	0
PLSCR2	57047	broad.mit.edu	37	3	146171805	146171805	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:146171805G>A	uc021xfa.1	-	6	1126	c.686C>T	c.(685-687)gCg>gTg	p.A229V	PLSCR2_uc003evw.2_Missense_Mutation_p.A225V|PLSCR2_uc003evv.2_Missense_Mutation_p.A156V	NM_001199978	NP_001186907	Q9NRY7	PLS2_HUMAN	Homo sapiens phospholipid scramblase 2 (PLSCR2), transcript variant 1, mRNA.	156					phospholipid scrambling	integral to membrane|plasma membrane	calcium ion binding|phospholipid scramblase activity	p.A156E(1)|p.A156V(1)|p.A229E(1)		endometrium(2)|large_intestine(5)|lung(7)|stomach(1)	15						ATCAACACCCGCAATACAGCT	0.323000														42			36		0	0	1	0	0
DSC1	1823	broad.mit.edu	37	18	28725648	28725648	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:28725648C>A	uc002kwn.3	-	6	1127	c.865G>T	c.(865-867)Gat>Tat	p.D289Y	DSC1_uc002kwm.3_Missense_Mutation_p.D289Y	NM_024421	NP_077739	Q08554	DSC1_HUMAN	Homo sapiens desmocollin 1 (DSC1), transcript variant Dsc1a, mRNA.	289	Cadherin 2.				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			TTTGGATGATCTGGGATTTGT	0.408000														73			33		2.42023e-17	3.08103e-17	1	1	0
ADAM28	10863	broad.mit.edu	37	8	24170973	24170973	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:24170973G>A	uc003xdy.3	+	5	539	c.456G>A	c.(454-456)gaG>gaA	p.E152E	ADAM28_uc003xdx.3_Silent_p.E152E|ADAM28_uc011kzz.2_Intron|ADAM28_uc011laa.2_Non-coding_Transcript	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN	Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA.	152					proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		ATGGACAGGAGCATGCACTCT	0.468000														49			34		0	0	1	0	0
RRAGC	64121	broad.mit.edu	37	1	39321445	39321445	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:39321445C>A	uc001ccq.2	-	2	598	c.576G>T	c.(574-576)caG>caT	p.Q192H	RRAGC_uc010oim.1_Missense_Mutation_p.Q158H|RRAGC_uc001ccr.2_Missense_Mutation_p.Q114H	NM_022157	NP_071440	Q9HB90	RRAGC_HUMAN	Homo sapiens Ras-related GTP binding C (RRAGC), mRNA.	192					RNA splicing|apoptosis|cell growth|cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade|small GTPase mediated signal transduction|transcription, DNA-dependent	lysosome|nucleus	GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein heterodimerization activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)	10	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)				GAATGTCCCTCTGTGTTTCTA	0.383000														106			28		4.7796e-09	5.65454e-09	1	1	0
SHANK2	22941	broad.mit.edu	37	11	70319000	70319000	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:70319000C>T	uc001oqc.3	-	21	5438	c.5326G>A	c.(5326-5328)Gct>Act	p.A1776T	SHANK2_uc010rqn.2_Missense_Mutation_p.A1252T|SHANK2_uc001opz.3_Missense_Mutation_p.A1247T|BC127192_uc009ysn.1_5'UTR|SHANK2_uc001opy.3_Missense_Mutation_p.A178T|SHANK2_uc021qmr.1_Non-coding_Transcript	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 2 (SHANK2), transcript variant 1, mRNA.	1463					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|SH3 domain binding|ionotropic glutamate receptor binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			TGTTTCAAAGCCCTTTCTATG	0.502000														101			36		0	0	1	0	0
FAM208B	54906	broad.mit.edu	37	10	5788961	5788961	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:5788961C>T	uc001iij.3	+	14	4202	c.3577C>T	c.(3577-3579)Cta>Tta	p.L1193L	FAM208B_uc001iik.3_Silent_p.L37L	NM_017782	NP_060252	Q5VWN6	CJ018_HUMAN	Homo sapiens family with sequence similarity 208, member B (FAM208B), mRNA.	1193																	TCTCCTCGGCCTATCTTCAGA	0.468000														53			38		0	0	1	0	0
JAM2	58494	broad.mit.edu	37	21	27074497	27074497	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:27074497T>C	uc002ylp.1	+	5	1158	c.613T>C	c.(613-615)Tcc>Ccc	p.S205P	JAM2_uc011ace.1_Missense_Mutation_p.S205P|JAM2_uc002ylq.1_Non-coding_Transcript|JAM2_uc011acf.1_Missense_Mutation_p.S169P	NM_021219	NP_067042	P57087	JAM2_HUMAN	Homo sapiens junctional adhesion molecule 2 (JAM2), mRNA.	205	Ig-like C2-type.				blood coagulation|cell-cell adhesion|leukocyte migration	integral to plasma membrane|tight junction				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|urinary_tract(1)	19						TAATACTGTTTCCAAACTGGA	0.358000														28			16		0	0	1	0	0
TMCC3	57458	broad.mit.edu	37	12	94976228	94976228	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:94976228C>T	uc001tdj.2	-	1	283	c.165G>A	c.(163-165)ccG>ccA	p.P55P	TMCC3_uc001tdi.2_Silent_p.P24P	NM_020698	NP_065749	Q9ULS5	TMCC3_HUMAN	Homo sapiens transmembrane and coiled-coil domain family 3 (TMCC3), mRNA.	55						integral to membrane				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						GGATGCCATCCGGGACATCAA	0.478000														65			45		0	0	1	0	0
CDKL5	6792	broad.mit.edu	37	X	18668631	18668631	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:18668631C>T	uc004cym.3	+	19	3152	c.2899C>T	c.(2899-2901)Ctc>Ttc	p.L967F	CDKL5_uc004cyn.3_Missense_Mutation_p.L967F|RS1_uc004cyo.3_Intron	NM_003159	NP_003150	O76039	CDKL5_HUMAN	Homo sapiens cyclin-dependent kinase-like 5 (CDKL5), transcript variant I, mRNA.	967					neuron migration|positive regulation of Rac GTPase activity|positive regulation of axon extension|positive regulation of dendrite morphogenesis|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|Rac GTPase binding|cyclin-dependent protein kinase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					CTATCCAGTACTCCAGGTCCG	0.567000														33			28		0	0	1	0	0
TSC2	7249	broad.mit.edu	37	16	2125816	2125816	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:2125816G>A	uc002con.3	+	22	2668	c.2562G>A	c.(2560-2562)ccG>ccA	p.P854P	TCRBV20S1_uc021tak.1_Intron|TSC2_uc010bsd.3_Silent_p.P854P|TSC2_uc002coo.3_Silent_p.P854P|TSC2_uc010uvv.2_Silent_p.P817P|TSC2_uc010uvw.2_Silent_p.P805P|TSC2_uc002cop.3_Silent_p.P654P	NM_000548	NP_000539	P49815	TSC2_HUMAN	Homo sapiens tuberous sclerosis 2 (TSC2), transcript variant 1, mRNA.	854					cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|TSC1-TSC2 complex|nucleus|perinuclear region of cytoplasm	GTPase activator activity|protein homodimerization activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				CCAGGCTGCCGCACCTCTACA	0.662000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis					23			20		0	0	1	0	0
ASPM	259266	broad.mit.edu	37	1	197073511	197073511	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:197073511T>C	uc001gtu.3	-	17	5127	c.4870A>G	c.(4870-4872)Aaa>Gaa	p.K1624E	ASPM_uc001gtv.3_Intron|ASPM_uc001gtw.4_Intron	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	Homo sapiens asp (abnormal spindle) homolog, microcephaly associated (Drosophila) (ASPM), transcript variant 1, mRNA.	1624					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						GCTAGAACTTTCATGGCAAAA	0.393000														107			14		0	0	1	0	0
LTBP1	4052	broad.mit.edu	37	2	33622300	33622300	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:33622300C>T	uc021vft.1	+	32	4958	c.4935C>T	c.(4933-4935)tgC>tgT	p.C1645C	LTBP1_uc002rou.3_Silent_p.C1319C|LTBP1_uc002rov.3_Silent_p.C1266C|LTBP1_uc010ymz.2_Silent_p.C1277C|LTBP1_uc010yna.2_Silent_p.C1224C|LTBP1_uc010ynb.2_Silent_p.C543C	NM_206943	NP_996826	Q14766	LTBP1_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 1 (LTBP1), transcript variant 1, mRNA.	1645	EGF-like 17.				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity	p.C1646C(1)		breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				GTTACACCTGCGATTGCTTTG	0.463000														25			17		0	0	1	0	0
SH3TC1	54436	broad.mit.edu	37	4	8229811	8229811	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:8229811G>A	uc003gkv.4	+	11	2491	c.2390G>A	c.(2389-2391)aGc>aAc	p.S797N	SH3TC1_uc003gkw.4_Missense_Mutation_p.S721N|SH3TC1_uc003gkx.4_Non-coding_Transcript|SH3TC1_uc003gky.3_5'Flank	NM_018986	NP_061859	Q8TE82	S3TC1_HUMAN	Homo sapiens SH3 domain and tetratricopeptide repeats 1 (SH3TC1), mRNA.	797							binding			NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						CAGCTGTACAGCCACCATGGC	0.672000														16			7		0	0	1	0	0
RARS	5917	broad.mit.edu	37	5	167919797	167919797	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:167919797G>A	uc003lzx.3	+	2	355	c.314G>A	c.(313-315)aGt>aAt	p.S105N	RARS_uc011deo.2_5'UTR	NM_002887	NP_002878	P54136	SYRC_HUMAN	Homo sapiens arginyl-tRNA synthetase (RARS), mRNA.	105					arginyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|arginine-tRNA ligase activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|stomach(1)	22	Renal(175;0.000159)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0208)|all_neural(177;0.0227)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0693)|Epithelial(171;0.131)|OV - Ovarian serous cystadenocarcinoma(192;0.156)		GTGACACCAAGTCAGCAGGCC	0.398000														106			8		0	0	1	0	0
CAMK1D	57118	broad.mit.edu	37	10	12867689	12867689	+	Splice_Site	SNP	T	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:12867689T>A	uc001ilo.3	+	10	1274	c.1039_splice	c.e10+1	p.C347_splice	CAMK1D_uc001iln.3_Missense_Mutation_p.C347S	NM_153498	NP_705718	Q8IU85	KCC1D_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase ID (CAMK1D), transcript variant 2, mRNA.	347	Ser-rich.					calcium- and calmodulin-dependent protein kinase complex|cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)	16				GBM - Glioblastoma multiforme(1;3.16e-05)		CCAAAAAGACTGTGCGTATGT	0.552000														64			38		0	0	1	0	0
OTOA	146183	broad.mit.edu	37	16	21698948	21698948	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:21698948G>A	uc002djh.3	+	6	615	c.614G>A	c.(613-615)cGc>cAc	p.R205H	LOC23117_uc021tel.1_Intron|OTOA_uc010vbj.2_Missense_Mutation_p.R126H	NM_144672	NP_653273	Q7RTW8	OTOAN_HUMAN	Homo sapiens otoancorin (OTOA), transcript variant 1, mRNA.	205					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix		p.R205G(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		CGGGACCTGCGCGAGGATGCC	0.542000														12			6		0	0	1	0	0
FBXO7	25793	broad.mit.edu	37	22	32875191	32875191	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:32875191C>T	uc003amq.3	+	1	629	c.346C>T	c.(346-348)Cag>Tag	p.Q116*	FBXO7_uc003amp.1_Nonsense_Mutation_p.Q2*|FBXO7_uc003amt.3_Nonsense_Mutation_p.Q37*|FBXO7_uc003amu.3_Nonsense_Mutation_p.Q2*	NM_012179	NP_036311	Q9Y3I1	FBX7_HUMAN	Homo sapiens F-box protein 7 (FBXO7), transcript variant 1, mRNA.	116					cell death|regulation of protein stability|ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GACTAGCATGCAGGATGAACA	0.448000														78			15		0	0	1	0	0
PARP2	10038	broad.mit.edu	37	14	20824784	20824784	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:20824784G>T	uc001vxc.3	+	12	1332	c.1304G>T	c.(1303-1305)tGg>tTg	p.W435L	PARP2_uc001vxb.1_Missense_Mutation_p.W435L|PARP2_uc001vxd.3_Missense_Mutation_p.W422L|PARP2_uc010tle.2_Missense_Mutation_p.W185L	NM_005484	NP_005475	Q9UGN5	PARP2_HUMAN	Homo sapiens poly (ADP-ribose) polymerase 2 (PARP2), transcript variant 1, mRNA.	435	PARP catalytic.				protein ADP-ribosylation	nucleolus|nucleoplasm	DNA binding|NAD+ ADP-ribosyltransferase activity			central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	15	all_cancers(95;0.00092)	all_lung(585;0.235)	Epithelial(56;5.34e-07)|all cancers(55;3.7e-06)	GBM - Glioblastoma multiforme(265;0.00888)|READ - Rectum adenocarcinoma(17;0.0649)		ATGAGTAACTGGGTGGGAATC	0.468000								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA						226			15		1.15088e-07	1.32926e-07	1	1	0
TAOK2	9344	broad.mit.edu	37	16	29994972	29994972	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:29994972G>A	uc010bzm.2	+	11	1465	c.1430G>A	c.(1429-1431)cGa>cAa	p.R477Q	BOLA2_uc010bzb.1_Intron|TAOK2_uc002dvb.2_Missense_Mutation_p.R470Q|TAOK2_uc021tgf.1_Missense_Mutation_p.R470Q|TAOK2_uc002dva.2_Missense_Mutation_p.R470Q|TAOK2_uc002dvc.2_Missense_Mutation_p.R470Q|TAOK2_uc002dvd.2_Missense_Mutation_p.R297Q	NM_016151	NP_057235	Q9UL54	TAOK2_HUMAN	Homo sapiens TAO kinase 2 (TAOK2), transcript variant 1, mRNA.	470					actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						GCCACCATCCGAACCGCCTCC	0.587000														98			91		0	0	1	0	0
FRMD4B	23150	broad.mit.edu	37	3	69230239	69230239	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:69230239T>C	uc003dnv.2	-	20	2952	c.2662A>G	c.(2662-2664)Aaa>Gaa	p.K888E	FRMD4B_uc003dnw.2_Non-coding_Transcript|FRMD4B_uc003dnu.2_Missense_Mutation_p.K540E|FRMD4B_uc011bga.1_Missense_Mutation_p.K732E	NM_015123	NP_055938	Q9Y2L6	FRM4B_HUMAN	Homo sapiens FERM domain containing 4B (FRMD4B), mRNA.	888						cytoplasm|cytoskeleton	binding			NS(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(2)	19		Lung NSC(201;0.0138)|Prostate(884;0.11)		BRCA - Breast invasive adenocarcinoma(55;0.000201)|Epithelial(33;0.00141)|LUSC - Lung squamous cell carcinoma(21;0.00999)|Lung(16;0.0182)		TGGATGTTTTTGGTGATGTGC	0.567000														43			4		0	0	1	0	0
NBEAL1	65065	broad.mit.edu	37	2	204001395	204001395	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:204001395C>A	uc002uzt.3	+	27	4709	c.4376C>A	c.(4375-4377)tCt>tAt	p.S1459Y	NBEAL1_uc021vvj.1_Missense_Mutation_p.S162Y	NM_001114132	NP_001107604	Q6ZS30	NBEL1_HUMAN	Homo sapiens neurobeachin-like 1 (NBEAL1), mRNA.	1459							binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						CTAGAAAAGTCTGATGATGAT	0.333000														46			32		4.74835e-14	5.93493e-14	1	1	0
MNF1	84300	broad.mit.edu	37	6	33669180	33669180	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:33669180G>T	uc003ofa.1	-	1	197	c.156C>A	c.(154-156)gcC>gcA	p.A52A	MNF1_uc003oez.1_5'Flank|MNF1_uc010jve.1_Non-coding_Transcript	NM_032340	NP_115716	Q9BRT2	CF125_HUMAN	Homo sapiens chromosome 6 open reading frame 125 (C6orf125), mRNA.	52																	TCTGATCACAGGCCTCAGGCT	0.493000														73			12		2.68362e-12	3.30521e-12	1	1	0
MRGPRX1	259249	broad.mit.edu	37	11	18956162	18956162	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:18956162C>T	uc001mpg.3	-	0	388	c.170G>A	c.(169-171)cGc>cAc	p.R57H		NM_147199	NP_671732	Q96LB2	MRGX1_HUMAN	Homo sapiens MAS-related GPR, member X1 (MRGPRX1), mRNA.	57					acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GGCGTTCCTGCGCATGCGGCA	0.557000														79			35		0	0	1	0	0
WDR44	54521	broad.mit.edu	37	X	117528036	117528036	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:117528036C>T	uc004eqn.3	+	4	1276	c.845C>T	c.(844-846)aCg>aTg	p.T282M	WDR44_uc004eqo.3_Missense_Mutation_p.T282M|WDR44_uc011mtr.2_Missense_Mutation_p.T257M|WDR44_uc010nqi.3_5'UTR	NM_019045	NP_061918	Q5JSH3	WDR44_HUMAN	Homo sapiens WD repeat domain 44 (WDR44), transcript variant 1, mRNA.	282						Golgi apparatus|cytosol|endosome membrane|perinuclear region of cytoplasm				breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	33						GAGAATATTACGTCTGATTCT	0.383000														78			6		0	0	1	0	0
MKRN2	23609	broad.mit.edu	37	3	12613679	12613679	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:12613679C>A	uc003bxd.3	+	3	505	c.449C>A	c.(448-450)gCc>gAc	p.A150D	MKRN2_uc011aus.2_Missense_Mutation_p.A107D	NM_014160	NP_054879	Q9H000	MKRN2_HUMAN	Homo sapiens makorin ring finger protein 2 (MKRN2), mRNA.	150						intracellular	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(3)	16						TACCTGGATGCCATCAGGAGT	0.622000														23			20		4.96729e-08	5.78267e-08	1	1	0
KIAA1468	57614	broad.mit.edu	37	18	59947632	59947632	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:59947632C>T	uc002lil.3	+	22	3222	c.3007C>T	c.(3007-3009)Cgg>Tgg	p.R1003W	KIAA1468_uc010xel.2_Intron|KIAA1468_uc002lim.3_Intron	NM_020854	NP_065905	Q9P260	K1468_HUMAN	Homo sapiens KIAA1468 (KIAA1468), mRNA.	1003							binding	p.R1003L(1)		autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47		Colorectal(73;0.186)				AGTTGACAAGCGGGTTGCTCC	0.438000														62			24		0	0	1	0	0
FOXI1	2299	broad.mit.edu	37	5	169535395	169535395	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:169535395C>A	uc003mai.4	+	1	962	c.917C>A	c.(916-918)cCt>cAt	p.P306H	FOXI1_uc003maj.4_Missense_Mutation_p.P211H	NM_012188	NP_036320	Q12951	FOXI1_HUMAN	Homo sapiens forkhead box I1 (FOXI1), transcript variant 1, mRNA.	306					epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA 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(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGACTGAGCCCTGAGCCCAGT	0.617000									Pendred syndrome					49			5		0.0381472	0.0388409	1	1	0
CACNA1B	774	broad.mit.edu	37	9	140953109	140953109	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:140953109C>T	uc004cog.3	+	28	4542	c.4397C>T	c.(4396-4398)aCa>aTa	p.T1466I	CACNA1B_uc022bqn.1_Missense_Mutation_p.T1466I|CACNA1B_uc011mfd.2_Missense_Mutation_p.T1067I|CACNA1B_uc004coi.3_Missense_Mutation_p.T680I	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA.	1466					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	AAGACGTGGACATTTGTGGTC	0.552000														15			5		0	0	1	0	0
ZNF140	7699	broad.mit.edu	37	12	133682774	133682774	+	Missense_Mutation	SNP	T	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:133682774T>A	uc001ulo.3	+	4	1581	c.911T>A	c.(910-912)aTt>aAt	p.I304N	ZNF140_uc001ulp.3_Missense_Mutation_p.I201N|ZNF140_uc010tbu.2_Missense_Mutation_p.I201N	NM_003440	NP_003431	P52738	ZN140_HUMAN	Homo sapiens zinc finger protein 140 (ZNF140), mRNA.	304						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.114)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		TATGAATGCATTGAATGTGGG	0.408000														94			13		0	0	1	0	0
ANKFN1	162282	broad.mit.edu	37	17	54452064	54452064	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:54452064C>T	uc002iun.1	+	6	943	c.908C>T	c.(907-909)aCc>aTc	p.T303I		NM_153228	NP_694960	Q8N957	ANKF1_HUMAN	Homo sapiens ankyrin-repeat and fibronectin type III domain containing 1 (ANKFN1), mRNA.	303	Fibronectin type-III.							p.V302V(1)		NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						GCTGTAGTAACCAGGTATAAA	0.438000														62			26		0	0	1	0	0
TTC30B	150737	broad.mit.edu	37	2	178416646	178416646	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:178416646C>A	uc002uln.3	-	0	879	c.846G>T	c.(844-846)gaG>gaT	p.E282D	TTC30B_uc010zfc.1_Missense_Mutation_p.E54D	NM_152517	NP_689730	Q8N4P2	TT30B_HUMAN	Homo sapiens tetratricopeptide repeat domain 30B (TTC30B), mRNA.	282					cell projection organization	cilium	binding			cervix(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362)			CCAACTCTTCCTCTGCCCTGG	0.498000														152			17		9.16793e-09	1.08001e-08	1	1	0
TBC1D15	64786	broad.mit.edu	37	12	72314627	72314627	+	Splice_Site	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:72314627G>T	uc001swu.3	+	16	1842	c.1767_splice	c.e16+1	p.K589_splice	TBC1D15_uc001sww.3_Splice_Site_p.K343_splice|TBC1D15_uc010stt.2_Splice_Site_p.K580_splice|TBC1D15_uc001swv.3_Splice_Site_p.K572_splice	NM_022771	NP_073608	Q8TC07	TBC15_HUMAN	Homo sapiens TBC1 domain family, member 15 (TBC1D15), transcript variant 1, mRNA.	589							Rab GTPase activator activity|protein binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AAATACTTAAGGTAGTTATTC	0.333000														100			7		0.0293803	0.0299714	1	1	0
CAMK1D	57118	broad.mit.edu	37	10	12803078	12803078	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:12803078A>G	uc001ilo.3	+	3	666	c.431A>G	c.(430-432)gAc>gGc	p.D144G	CAMK1D_uc001iln.3_Missense_Mutation_p.D144G	NM_153498	NP_705718	Q8IU85	KCC1D_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase ID (CAMK1D), transcript variant 2, mRNA.	144	Protein kinase.					calcium- and calmodulin-dependent protein kinase complex|cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)	16				GBM - Glioblastoma multiforme(1;3.16e-05)		GTCCACAGAGACCTCAAGGTG	0.587000														12			5		0	0	1	0	0
P2RX1	5023	broad.mit.edu	37	17	3808550	3808550	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:3808550C>A	uc002fww.3	-	1	690	c.249G>T	c.(247-249)caG>caT	p.Q83H	P2RX1_uc010ckm.1_3'UTR	NM_002558	NP_002549	P51575	P2RX1_HUMAN	Homo sapiens purinergic receptor P2X, ligand-gated ion channel, 1 (P2RX1), mRNA.	83					platelet activation	integral to plasma membrane	calcium channel activity|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	13				LUAD - Lung adenocarcinoma(2;1.9e-05)|Lung(3;0.0173)		CATCCCAGACCTGGGGGCCGA	0.622000														26			20		2.37509e-13	2.95421e-13	1	1	0
SLC23A2	9962	broad.mit.edu	37	20	4837827	4837827	+	Missense_Mutation	SNP	G	A	A	rs139545711	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:4837827G>A	uc002wlg.1	-	16	2119	c.1744C>T	c.(1744-1746)Cgg>Tgg	p.R582W	SLC23A2_uc010zqr.1_Missense_Mutation_p.R467W|SLC23A2_uc002wlh.1_Missense_Mutation_p.R582W	NM_005116	NP_976072	Q9UGH3	S23A2_HUMAN	Homo sapiens solute carrier family 23 (nucleobase transporters), member 2 (SLC23A2), transcript variant 1, mRNA.	582					L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport	apical plasma membrane|integral to plasma membrane|membrane fraction	nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity			endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						TTCCATTTCCGGATTCCTCTT	0.433000														22			10		0	0	1	0	0
PAK6	56924	broad.mit.edu	37	15	40565608	40565608	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:40565608C>T	uc010bbl.3	+	7	1992	c.1552C>T	c.(1552-1554)Cat>Tat	p.H518Y	PAK6_uc010bbm.3_Missense_Mutation_p.H518Y|PAK6_uc001zky.4_Missense_Mutation_p.H518Y|PAK6_uc010bbn.3_Missense_Mutation_p.H518Y|PAK6_uc001zlb.3_Missense_Mutation_p.H518Y	NM_001128628	NP_064553	Q9NQU5	PAK6_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 6 (PAK6), transcript variant 2, mRNA.	518	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(2)	24		all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544)		GGCCTACCTGCATGCTCAGGG	0.607000														23			5		0	0	1	0	0
IGSF22	283284	broad.mit.edu	37	11	18735840	18735840	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:18735840G>T	uc009yht.2	-	12	1972	c.1782C>A	c.(1780-1782)gcC>gcA	p.A594A	IGSF22_uc001mpa.2_Non-coding_Transcript	NM_173588	NP_775859	Q8N9C0	IGS22_HUMAN	Homo sapiens immunoglobulin superfamily, member 22 (IGSF22), mRNA.	594										NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						TGAATACAGAGGCTTCACTTT	0.572000														38			4		0.00909568	0.00940365	1	1	0
PPHLN1	51535	broad.mit.edu	37	12	42778746	42778746	+	Silent	SNP	C	T	T	rs147227639	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:42778746C>T	uc001rng.1	+	5	621	c.516C>T	c.(514-516)tcC>tcT	p.S172S	PPHLN1_uc001rna.3_Silent_p.S124S|PPHLN1_uc001rnb.3_Silent_p.S179S|PPHLN1_uc001rnc.3_Silent_p.S172S|PPHLN1_uc001rnd.3_Silent_p.S124S|PPHLN1_uc001rnf.3_Intron|PPHLN1_uc010skq.2_Intron|PPHLN1_uc010skr.1_Silent_p.S117S|PPHLN1_uc010sks.1_Intron|PPHLN1_uc010skt.1_Intron|PPHLN1_uc001rni.1_Silent_p.S117S|PPHLN1_uc001rnh.1_Non-coding_Transcript|PPHLN1_uc010sku.1_Intron|PPHLN1_uc001rnj.3_5'Flank	NM_016488	NP_057572	Q8NEY8	PPHLN_HUMAN	Homo sapiens periphilin 1 (PPHLN1), transcript variant 1, mRNA.	172	Ser-rich.				keratinization	cytoplasm|nucleus				breast(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	16	all_cancers(12;0.00049)|Breast(8;0.165)	Lung NSC(34;0.123)		GBM - Glioblastoma multiforme(48;0.0875)		CCATAGAGTCCGTGCGTCCTG	0.507000														28			13		0	0	1	0	0
LOC650623	650623	broad.mit.edu	37	10	81442927	81442927	+	RNA	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:81442927G>A	uc010qlu.2	+	0		c.197G>A								Homo sapiens BEN domain containing 3 pseudogene (LOC650623), non-coding RNA.																		TCCCAGAGGCGCTCCTAGCAG	0.632000														8			3		0	0	1	0	0
CPE	1363	broad.mit.edu	37	4	166414350	166414350	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:166414350C>T	uc003irg.4	+	6	1418	c.1141C>T	c.(1141-1143)Cga>Tga	p.R381*		NM_001873	NP_001864	P16870	CBPE_HUMAN	Homo sapiens carboxypeptidase E (CPE), mRNA.	381					cardiac left ventricle morphogenesis|neuropeptide signaling pathway|protein modification process	extracellular region|nucleus|plasma membrane	metallocarboxypeptidase activity|protein binding|zinc ion binding			endometrium(2)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	26	all_hematologic(180;0.221)	Prostate(90;0.0962)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.137)	Glucagon recombinant(DB00040)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AGGATTTGTCCGAGACCTTCA	0.403000											OREG0016391	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		29			8		0	0	1	0	0
TYW1	55253	broad.mit.edu	37	7	66548517	66548517	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:66548517C>T	uc003tvn.3	+	10	1524	c.1375C>T	c.(1375-1377)Cag>Tag	p.Q459*	TYW1_uc010lai.3_Non-coding_Transcript|TYW1_uc011kef.2_Nonsense_Mutation_p.Q73*	NM_018264	NP_060734	Q9NV66	TYW1_HUMAN	Homo sapiens tRNA-yW synthesizing protein 1 homolog (S. cerevisiae) (TYW1), mRNA.	459					tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity			breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				CATGATTAAGCAGTTTAAAGG	0.433000														35			25		0	0	1	0	0
BCAM	4059	broad.mit.edu	37	19	45322860	45322860	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:45322860C>A	uc002ozu.3	+	12	1684	c.1640C>A	c.(1639-1641)gCt>gAt	p.A547D	BCAM_uc002ozt.1_Missense_Mutation_p.A547D	NM_005581	NP_005572	P50895	BCAM_HUMAN	Homo sapiens basal cell adhesion molecule (Lutheran blood group) (BCAM), transcript variant 1, mRNA.	547					cell-matrix adhesion	integral to plasma membrane	laminin binding|laminin receptor activity			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				ACCTCCCAGGCTGGAGTGGCC	0.687000														22			13		0.00185496	0.0019572	1	1	0
USH2A	7399	broad.mit.edu	37	1	215847889	215847889	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:215847889G>A	uc001hku.1	-	62	13751	c.13364C>T	c.(13363-13365)aCa>aTa	p.T4455I		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	4455	Fibronectin type-III 30.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.T4455A(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TTCTGAGCCTGTGACTTGCAA	0.468000										HNSCC(13;0.011)				72			17		0	0	1	0	0
DACH1	1602	broad.mit.edu	37	13	72204729	72204729	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:72204729T>C	uc021rkj.1	-	2	1514	c.1091A>G	c.(1090-1092)cAt>cGt	p.H364R	DACH1_uc021rkk.1_Missense_Mutation_p.H364R|DACH1_uc021rkl.1_Intron	NM_080759	NP_542937	Q9UI36	DACH1_HUMAN	Homo sapiens dachshund homolog 1 (Drosophila) (DACH1), transcript variant 1, mRNA.	362	Interaction with SIX6 and HDAC3 (By similarity).				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		GTCTGCTCCATGTTGGTTATT	0.398000														159			81		0	0	1	0	0
RNF219	79596	broad.mit.edu	37	13	79219113	79219113	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:79219113C>T	uc001vkw.1	-	1	151	c.92G>A	c.(91-93)tGc>tAc	p.C31Y	RNF219_uc010afb.1_5'UTR	NM_024546	NP_078822	Q5W0B1	RN219_HUMAN	Homo sapiens ring finger protein 219 (RNF219), mRNA.	31							zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|liver(1)|lung(11)|prostate(1)|skin(1)	32		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.0414)		GTTGTTGATGCATATGACAGG	0.378000														44			26		0	0	1	0	0
ZC3H7A	29066	broad.mit.edu	37	16	11861426	11861426	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:11861426A>G	uc002dbk.3	-	11	1567	c.1369T>C	c.(1369-1371)Tta>Cta	p.L457L	ZC3H7A_uc002dbj.3_5'Flank|ZC3H7A_uc002dbl.3_Silent_p.L457L|ZC3H7A_uc002dbm.2_Silent_p.L367L	NM_014153	NP_054872	Q8IWR0	Z3H7A_HUMAN	Homo sapiens zinc finger CCCH-type containing 7A (ZC3H7A), mRNA.	457						nucleus	nucleic acid binding|zinc ion binding			breast(2)|endometrium(3)|kidney(5)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(2)	25						AAATCCATTAACTTAGGGCCT	0.294000														73			6		0	0	1	0	0
MTHFR	4524	broad.mit.edu	37	1	11854429	11854429	+	Missense_Mutation	SNP	G	A	A	rs138469955		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:11854429G>A	uc001atb.1	-	6	1600	c.1402C>T	c.(1402-1404)Cgg>Tgg	p.R468W	MTHFR_uc001atc.2_Missense_Mutation_p.R445W	NM_005957	NP_005948	P42898	MTHR_HUMAN	Homo sapiens methylenetetrahydrofolate reductase (NAD(P)H) (MTHFR), mRNA.	445					blood circulation|folic acid metabolic process	cytosol	methylenetetrahydrofolate reductase (NADPH) activity|protein binding			NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|Raltitrexed(DB00293)|Riboflavin(DB00140)|S-Adenosylmethionine(DB00118)|Tetrahydrofolic acid(DB00116)	TGACCATTCCGGTTTGGTTCT	0.587000														40			17		0	0	1	0	0
IFT122	55764	broad.mit.edu	37	3	129196977	129196977	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:129196977G>A	uc003eml.3	+	12	1625	c.1419G>A	c.(1417-1419)atG>atA	p.M473I	IFT122_uc003emm.3_Missense_Mutation_p.M422I|IFT122_uc003emn.3_Missense_Mutation_p.M363I|IFT122_uc003emo.3_Missense_Mutation_p.M311I|IFT122_uc003emp.3_Missense_Mutation_p.M272I|IFT122_uc010htc.3_Missense_Mutation_p.M414I|IFT122_uc011bky.2_Missense_Mutation_p.M213I|IFT122_uc011bla.2_Missense_Mutation_p.M213I|IFT122_uc003emr.3_Missense_Mutation_p.M213I|IFT122_uc011bkx.1_Missense_Mutation_p.M262I|IFT122_uc011bkz.1_Non-coding_Transcript	NM_052985	NP_443711	Q9HBG6	IF122_HUMAN	Homo sapiens intraflagellar transport 122 homolog (Chlamydomonas) (IFT122), transcript variant 1, mRNA.	422					camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						TATCAGACATGCATTACCGGG	0.453000														24			12		0	0	1	0	0
CCDC129	223075	broad.mit.edu	37	7	31617984	31617984	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:31617984C>T	uc011kae.2	+	7	1196	c.1184C>T	c.(1183-1185)aCt>aTt	p.T395I	CCDC129_uc011kad.1_Missense_Mutation_p.T379I|CCDC129_uc003tcj.1_Missense_Mutation_p.T369I|CCDC129_uc003tci.1_Intron|CCDC129_uc003tck.1_Missense_Mutation_p.T277I	NM_194300	NP_919276	Q6ZRS4	CC129_HUMAN	Homo sapiens coiled-coil domain containing 129 (CCDC129), mRNA.	369										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						TTATTTCAGACTAACAAGCTC	0.517000														28			23		0	0	1	0	0
NOTCH1	4851	broad.mit.edu	37	9	139393669	139393669	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:139393669G>A	uc004chz.3	-	31	5977	c.5977C>T	c.(5977-5979)Cat>Tat	p.H1993Y		NM_017617	NP_060087	P46531	NOTC1_HUMAN	Homo sapiens notch 1 (NOTCH1), mRNA.	1993					Notch receptor processing|aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GTGCCATCATGCATGCGGGCA	0.642000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)				35			17		0	0	1	0	0
SH2D7	646892	broad.mit.edu	37	15	78390415	78390415	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:78390415G>A	uc010blb.1	+	2	411	c.411G>A	c.(409-411)atG>atA	p.M137I		NM_001101404	NP_001094874	A6NKC9	SH2D7_HUMAN	Homo sapiens SH2 domain containing 7 (SH2D7), mRNA.	137	SH2.		M -> T (in dbSNP:rs2289524).							endometrium(2)|kidney(2)|lung(3)	7						TCAAAGAGATGCTGACTGCTG	0.622000														12			3		0	0	1	0	0
ZNF318	24149	broad.mit.edu	37	6	43322515	43322515	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:43322515G>A	uc003oux.3	-	3	2635	c.2557C>T	c.(2557-2559)Cga>Tga	p.R853*	ZNF318_uc003ouw.3_Non-coding_Transcript	NM_014345	NP_055160	Q5VUA4	ZN318_HUMAN	Homo sapiens zinc finger protein 318 (ZNF318), mRNA.	853					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			ATTGAGCCTCGCAGAGACTCT	0.488000														42			22		0	0	1	0	0
SLMO2	51012	broad.mit.edu	37	20	57610078	57610078	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:57610078G>A	uc002yam.3	-	5	685	c.569C>T	c.(568-570)gCg>gTg	p.A190V	ATP5E_uc002yal.3_5'Flank|SLMO2_uc021wfq.1_Non-coding_Transcript|SLMO2_uc021wfr.1_Non-coding_Transcript|SLMO2_uc010zzv.2_Missense_Mutation_p.A160V	NM_016045	NP_057129	Q9Y3B1	SLMO2_HUMAN	Homo sapiens slowmo homolog 2 (Drosophila) (SLMO2), transcript variant 1, mRNA.	190										endometrium(1)|lung(2)|skin(2)	5	all_lung(29;0.00711)		Colorectal(105;0.109)			CTCTGCAAACGCTGCTGCTGC	0.403000														19			14		0	0	1	0	0
RIPK4	54101	broad.mit.edu	37	21	43161661	43161661	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:43161661G>A	uc002yzn.1	-	7	1740	c.1692C>T	c.(1690-1692)agC>agT	p.S564S		NM_020639	NP_065690	Q96T11	Q96T11_HUMAN	Homo sapiens receptor-interacting serine-threonine kinase 4 (RIPK4), mRNA.	564						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TGCCCTGCAGGCTCACGTCCA	0.672000														50			25		0	0	1	0	0
OR2AG1	144125	broad.mit.edu	37	11	6807113	6807113	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6807113C>T	uc001mer.2	+	0	866	c.845C>T	c.(844-846)aCt>aTt	p.T282I		NM_001004489	NP_001004489	Q9H205	O2AG1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily AG, member 1 (OR2AG1), mRNA.	282					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.19e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		ACAATTGTCACTCCAGCCCTG	0.507000														34			28		0	0	1	0	0
DENND4A	10260	broad.mit.edu	37	15	66031164	66031164	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:66031164C>T	uc002api.3	-	5	1066	c.681G>A	c.(679-681)ccG>ccA	p.P227P	DENND4A_uc002aph.3_Silent_p.P227P|DENND4A_uc002apj.3_Silent_p.P227P|DENND4A_uc010ujj.1_Silent_p.P227P	NM_001144823	NP_001138295	Q7Z401	MYCPP_HUMAN	Homo sapiens DENN/MADD domain containing 4A (DENND4A), transcript variant 1, mRNA.	227	UDENN.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						GAACAGATTCCGGTAGTGAGA	0.338000														32			16		0	0	1	0	0
CADPS2	93664	broad.mit.edu	37	7	122111440	122111440	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:122111440C>T	uc022akp.1	-	12	2585	c.2163G>A	c.(2161-2163)gtG>gtA	p.V721V	CADPS2_uc003vkg.4_Silent_p.V422V|CADPS2_uc022akq.1_3'UTR|CADPS2_uc010lkq.3_Silent_p.V722V|CADPS2_uc022akr.1_Silent_p.V725V	NM_001167940	NP_001161412	Q86UW7	CAPS2_HUMAN	Homo sapiens Ca++-dependent secretion activator 2 (CADPS2), transcript variant 3, mRNA.	725					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						TGTTGCCGTGCACATGAGAGG	0.423000														33			5		0	0	1	0	0
MRGPRX3	117195	broad.mit.edu	37	11	18158979	18158979	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:18158979G>A	uc021qek.1	+	0	230	c.230G>A	c.(229-231)aGc>aAc	p.S77N	MRGPRX3_uc001mnu.3_Missense_Mutation_p.S77N	NM_054031	NP_473372	Q96LB0	MRGX3_HUMAN	Homo sapiens MAS-related GPR, member X3 (MRGPRX3), mRNA.	77						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						CTCTTCCTTAGCGGCCACATT	0.547000														77			8		0	0	1	0	0
SLC2A11	66035	broad.mit.edu	37	22	24210757	24210757	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:24210757C>T	uc011ajc.1	+	2	721	c.231C>T	c.(229-231)atC>atT	p.I77I	SLC2A11_uc002zyl.1_Silent_p.I77I|SLC2A11_uc002zym.4_Silent_p.I77I|SLC2A11_uc002zyn.4_Silent_p.I70I|SLC2A11_uc002zyo.4_Non-coding_Transcript|SLC2A11_uc011ajd.1_Silent_p.I64I|SLC2A11_uc002zyp.4_Silent_p.I73I			Q9BYW1	GTR11_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 11 (SLC2A11), transcript variant 1, mRNA.	70						integral to membrane|plasma membrane	sugar transmembrane transporter activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(2)	12						GGTCCCTCATCGTGTCTCTGT	0.562000														40			32		0	0	1	0	0
XG	7499	broad.mit.edu	37	X	2729409	2729409	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:2729409G>A	uc004cqp.3	+	9	710	c.487G>A	c.(487-489)Gta>Ata	p.V163I	XG_uc011mhg.2_Missense_Mutation_p.V148I	NM_001141919	NP_001135391	P55808	XG_HUMAN	Homo sapiens Xg blood group (XG), transcript variant 2, mRNA.	148						integral to membrane|plasma membrane				endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	8		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				GTCTCCCATCGTATCCGTGGT	0.443000														22			3		0	0	1	0	0
BTK	695	broad.mit.edu	37	X	100615566	100615566	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:100615566C>A	uc010nno.2	-	7	1101	c.868G>T	c.(868-870)Gat>Tat	p.D290Y	BTK_uc004ehf.2_5'Flank|BTK_uc010nnh.2_5'Flank|BTK_uc010nni.2_5'Flank|BTK_uc004ehe.2_5'Flank|BTK_uc010nnj.2_5'Flank|BTK_uc010nnk.2_5'Flank|BTK_uc010nnl.2_5'Flank|BTK_uc010nnm.2_5'Flank|BTK_uc004ehg.2_Missense_Mutation_p.D256Y|BTK_uc010nnn.2_Missense_Mutation_p.D256Y|BTK_uc004ehh.1_5'Flank|BTK_uc004ehi.3_Missense_Mutation_p.D256Y	NM_000061	NP_000052	Q06187	BTK_HUMAN	Homo sapiens Bruton agammaglobulinemia tyrosine kinase (BTK), mRNA.	256	SH2.				calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding			breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						CCATTTTTATCTCGTGCTCTC	0.483000									Agammaglobulinemia, X-linked					93			11		2.27111e-07	2.61452e-07	1	1	0
RTN4RL1	146760	broad.mit.edu	37	17	1840632	1840632	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:1840632C>T	uc002ftp.3	-	1	503	c.484G>A	c.(484-486)Gag>Aag	p.E162K		NM_178568	NP_848663	Q86UN2	R4RL1_HUMAN	Homo sapiens reticulon 4 receptor-like 1 (RTN4RL1), mRNA.	162					axon regeneration	anchored to plasma membrane	receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|prostate(2)|skin(1)	11						TGGAGGTACTCGATGTGGTTG	0.632000														44			6		0	0	1	0	0
ZBTB10	65986	broad.mit.edu	37	8	81412269	81412269	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:81412269C>T	uc003ybx.4	+	1	2111	c.1513C>T	c.(1513-1515)Cgg>Tgg	p.R505W	ZBTB10_uc003ybv.4_Missense_Mutation_p.R213W|ZBTB10_uc003ybw.4_Missense_Mutation_p.R505W|ZBTB10_uc022awq.1_Missense_Mutation_p.R505W|ZBTB10_uc010lzt.3_Missense_Mutation_p.R505W|ZBTB10_uc022awr.1_Non-coding_Transcript	NM_001105539	NP_001099009	Q96DT7	ZBT10_HUMAN	Homo sapiens zinc finger and BTB domain containing 10 (ZBTB10), transcript variant 1, mRNA.	505					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(4)	20	all_cancers(3;1.68e-09)|all_epithelial(4;5.13e-11)|Lung NSC(7;1.75e-07)|all_lung(9;7.38e-07)|Breast(3;2.96e-06)		BRCA - Breast invasive adenocarcinoma(6;0.000434)|Epithelial(68;0.00486)|all cancers(69;0.0296)			TTGGGCAACACGGAATCTTAC	0.373000														111			10		0	0	1	0	0
C11orf45	219833	broad.mit.edu	37	11	128774420	128774420	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:128774420C>T	uc001qeu.3	-	1	236	c.42G>A	c.(40-42)acG>acA	p.T14T	KCNJ5_uc001qet.3_Intron|KCNJ5_uc009zck.3_Intron|C11orf45_uc009zcl.3_Silent_p.T14T|C11orf45_uc001qev.3_Silent_p.T14T	NM_145013	NP_659450	Q8TAV5	CK045_HUMAN	Homo sapiens chromosome 11 open reading frame 45 (C11orf45), transcript variant 2, mRNA.	14						extracellular region				endometrium(1)|kidney(1)|lung(2)|pancreas(1)|prostate(2)	7	all_hematologic(175;0.0641)	Lung NSC(97;0.00521)|Breast(109;0.00715)|all_lung(97;0.0111)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.00531)|LUSC - Lung squamous cell carcinoma(976;0.0193)|Lung(977;0.0195)		gcggagaGGTCGtgctactca	0.582000														30			37		0	0	1	0	0
KCNJ4	3761	broad.mit.edu	37	22	38823262	38823262	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:38823262G>A	uc003avs.1	-	1	973	c.876C>T	c.(874-876)ggC>ggT	p.G292G	KCNJ4_uc003avt.1_Silent_p.G292G|KCNJ4_uc021wpp.1_Silent_p.G292G	NM_004981	NP_690607	P48050	IRK4_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 4 (KCNJ4), transcript variant 2, mRNA.	292					synaptic transmission	basolateral plasma membrane|voltage-gated potassium channel complex	PDZ domain binding|inward rectifier potassium channel activity			endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23	Melanoma(58;0.0286)					CCTCCACCATGCCCTCCAGGA	0.617000														17			6		0	0	1	0	0
MUC6	4588	broad.mit.edu	37	11	1016442	1016442	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:1016442G>A	uc001lsw.2	-	30	6410	c.6359C>T	c.(6358-6360)cCt>cTt	p.P2120L		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	Homo sapiens mucin 6, oligomeric mucus/gel-forming (MUC6), mRNA.	2120	Ser-rich.|Thr-rich.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|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;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGTGGAAACAGGAGTGGTTGC	0.527000														33			43		0	0	1	0	0
CP	1356	broad.mit.edu	37	3	148925399	148925399	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:148925399T>C	uc003ewy.4	-	4	1040	c.787A>G	c.(787-789)Aat>Gat	p.N263D	CP_uc011bnr.2_Non-coding_Transcript|CP_uc003ewx.4_Missense_Mutation_p.N44D|CP_uc003ewz.3_Missense_Mutation_p.N263D|CP_uc010hvf.1_5'UTR	NM_000096	NP_000087	P00450	CERU_HUMAN	Homo sapiens ceruloplasmin (ferroxidase) (CP), mRNA.	263	F5/8 type A 1.|Plastocyanin-like 2.				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)	GTGTATCCATTCACAGCTGTA	0.398000														61			5		0	0	1	0	0
TOM1	10043	broad.mit.edu	37	22	35726441	35726441	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:35726441C>T	uc003ann.3	+	7	992	c.867C>T	c.(865-867)gaC>gaT	p.D289D	TOM1_uc011ami.2_Silent_p.D256D|TOM1_uc003anp.3_Silent_p.D289D|TOM1_uc011aml.2_Silent_p.D244D|TOM1_uc011amk.2_Silent_p.D251D|TOM1_uc003ano.3_Non-coding_Transcript|TOM1_uc011amj.2_Silent_p.D132D	NM_005488	NP_005479	O60784	TOM1_HUMAN	Homo sapiens target of myb1 (chicken) (TOM1), transcript variant 1, mRNA.	289	GAT.				endocytosis|endosome transport|intracellular protein transport	cytosol|early endosome|membrane	protein binding			NS(1)|breast(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)	19						TCGTCAATGACAATCTCAACA	0.602000														93			6		0	0	1	0	0
C20orf132	140699	broad.mit.edu	37	20	35748188	35748188	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:35748188G>T	uc010zvu.2	-	18	2374	c.2283C>A	c.(2281-2283)cgC>cgA	p.R761R	C20orf132_uc002xgk.3_Silent_p.R393R	NM_152503	NP_689716	Q9H579	CT132_HUMAN	Homo sapiens chromosome 20 open reading frame 132 (C20orf132), transcript variant 1, mRNA.	330										endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|lung(4)|upper_aerodigestive_tract(1)	9		Myeloproliferative disorder(115;0.00878)				AGTCTTTAAAGCGGGCAACAG	0.498000														78			12		3.07112e-06	3.45634e-06	1	1	0
ODZ2	57451	broad.mit.edu	37	5	167631584	167631584	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:167631584G>A	uc010jjd.3	+	18	3755	c.3755G>A	c.(3754-3756)cGc>cAc	p.R1252H	ODZ2_uc003lzr.4_Missense_Mutation_p.R1029H|ODZ2_uc003lzt.4_Missense_Mutation_p.R625H|ODZ2_uc010jje.3_Missense_Mutation_p.R523H	NM_001122679	NP_001116151			Homo sapiens odz, odd Oz/ten-m homolog 2 (Drosophila) (ODZ2), mRNA.											NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|lung(45)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(2)	122	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		TACATCCGACGCATCTTTCCC	0.527000														29			17		0	0	1	0	0
ATP10D	57205	broad.mit.edu	37	4	47537530	47537530	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:47537530C>T	uc003gxk.1	+	5	945	c.781C>T	c.(781-783)Cat>Tat	p.H261Y	ATP10D_uc003gxl.1_5'Flank|ATP10D_uc003gxj.3_Missense_Mutation_p.H261Y	NM_020453	NP_065186	Q9P241	AT10D_HUMAN	Homo sapiens ATPase, class V, type 10D (ATP10D), mRNA.	261					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						TTATAGAGAACATTCCAACAA	0.373000														44			23		0	0	1	0	0
LRRIQ4	344657	broad.mit.edu	37	3	169540229	169540229	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:169540229C>T	uc003fgb.3	+	0	520	c.520C>T	c.(520-522)Cga>Tga	p.R174*		NM_001080460	NP_001073929	A6NIV6	LRIQ4_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 4 (LRRIQ4), mRNA.	174										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						CTACCTGAAGCGAAACCAGTT	0.507000														50			20		0	0	1	0	0
CYP46A1	10858	broad.mit.edu	37	14	100166439	100166439	+	Splice_Site	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:100166439G>A	uc001ygo.3	+	5	443	c.443_splice	c.e5+1	p.S148_splice	CYP46A1_uc001ygn.1_Splice_Site_p.S110_splice	NM_006668	NP_006659	Q9Y6A2	CP46A_HUMAN	Homo sapiens cytochrome P450, family 46, subfamily A, polypeptide 1 (CYP46A1), mRNA.	148					bile acid biosynthetic process|cholesterol catabolic process|nervous system development|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol 24-hydroxylase activity|electron carrier activity|heme binding|steroid hydroxylase activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)	25		Melanoma(154;0.0866)|all_epithelial(191;0.179)				TCAGCCGGAGGTGAGTGTGGC	0.632000														21			8		0	0	1	0	0
PTK6	5753	broad.mit.edu	37	20	62162171	62162171	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:62162171G>A	uc002yfg.3	-	5	982	c.942C>T	c.(940-942)gcC>gcT	p.A314A	PTK6_uc011aay.2_Silent_p.A213A|PTK6_uc011aaz.1_Silent_p.A76A	NM_005975	NP_005966	Q13882	PTK6_HUMAN	Homo sapiens PTK6 protein tyrosine kinase 6 (PTK6), transcript variant 1, mRNA.	314	Protein kinase.					cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			endometrium(3)|kidney(1)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	15	all_cancers(38;2.51e-11)		Epithelial(9;1.5e-08)|all cancers(9;8.67e-08)|BRCA - Breast invasive adenocarcinoma(10;6.43e-06)			TGTTCCTGGCGGCCAGGTCCC	0.607000														20			17		0	0	1	0	0
RREB1	6239	broad.mit.edu	37	6	7230522	7230522	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:7230522C>T	uc003mxb.3	+	9	2682	c.2190C>T	c.(2188-2190)atC>atT	p.I730I	RREB1_uc021yky.1_Silent_p.I730I|RREB1_uc003mxc.3_Silent_p.I730I|RREB1_uc010jnx.3_Silent_p.I730I|RREB1_uc021ykz.1_Silent_p.I730I|RREB1_uc021yla.1_Intron	NM_001003699	NP_001003699	Q92766	RREB1_HUMAN	Homo sapiens ras responsive element binding protein 1 (RREB1), transcript variant 1, mRNA.	730					Ras protein signal transduction|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				GCAAGGATATCGAGAAGAACA	0.617000														29			23		0	0	1	0	0
CBX4	8535	broad.mit.edu	37	17	77808427	77808427	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:77808427C>T	uc002jxe.3	-	4	1177	c.1014G>A	c.(1012-1014)ccG>ccA	p.P338P		NM_003655	NP_003646	O00257	CBX4_HUMAN	Homo sapiens chromobox homolog 4 (CBX4), mRNA.	338	Interaction with BMI1.				anti-apoptosis|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|PcG protein complex	enzyme binding|transcription corepressor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			CCTGGGGCTGCGGATCGCTAA	0.667000											OREG0024799	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		16			12		0	0	1	0	0
MKL2	57496	broad.mit.edu	37	16	14342792	14342792	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:14342792C>T	uc010uza.2	+	12	2412	c.2257C>T	c.(2257-2259)Caa>Taa	p.Q753*	MKL2_uc002dcg.3_Nonsense_Mutation_p.Q703*|MKL2_uc002dcj.3_5'UTR	NM_014048	NP_054767	Q9ULH7	MKL2_HUMAN	Homo sapiens MKL/myocardin-like 2 (MKL2), mRNA.	742	Gln-rich.				cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GACTTCACCACAAGCAGGAAT	0.448000														45			19		0	0	1	0	0
TAOK3	51347	broad.mit.edu	37	12	118636871	118636871	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:118636871G>A	uc001twx.3	-	12	1474	c.1179C>T	c.(1177-1179)tcC>tcT	p.S393S	TAOK3_uc001tww.3_Silent_p.S223S|TAOK3_uc001twy.4_Silent_p.S393S	NM_016281	NP_057365	Q9H2K8	TAOK3_HUMAN	Homo sapiens TAO kinase 3 (TAOK3), mRNA.	393	Ser-rich.				MAPKKK cascade|negative regulation of JNK cascade|positive regulation of JNK cascade|protein autophosphorylation	mitochondrion|plasma membrane	ATP binding|protein kinase inhibitor activity|protein serine/threonine kinase activity	p.S392Y(1)		central_nervous_system(1)|lung(5)|skin(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TATGCACGACGGAGGAGCTGG	0.473000														70			29		0	0	1	0	0
ZNF12	7559	broad.mit.edu	37	7	6732108	6732108	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:6732108A>G	uc003sqt.1	-	4	1019	c.465T>C	c.(463-465)agT>agC	p.S155S	ZNF12_uc011jxa.1_5'UTR|ZNF12_uc003sqs.1_Silent_p.S117S	NM_016265	NP_057349	P17014	ZNF12_HUMAN	Homo sapiens zinc finger protein 12 (ZNF12), transcript variant 1, mRNA.	155					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3)	16		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		TTCCATCACTACTAATATATT	0.373000														121			7		0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114278095	114278095	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:114278095G>A	uc003ibe.4	+	37	8421	c.8321G>A	c.(8320-8322)gGc>gAc	p.G2774D	ANK2_uc003ibd.4_Intron|ANK2_uc003ibf.4_Intron|ANK2_uc011cgc.2_Intron|ANK2_uc003ibg.4_Intron|ANK2_uc003ibh.4_Intron|ANK2_uc011cgb.1_Missense_Mutation_p.G2789D	NM_001148	NP_001139	Q01484	ANK2_HUMAN	Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.	2741					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		ATCTGTGATGGCCATGGATGT	0.488000														49			5		0	0	1	0	0
MAEA	10296	broad.mit.edu	37	4	1332393	1332393	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:1332393C>T	uc003gda.3	+	7	1113	c.1083C>T	c.(1081-1083)gtC>gtT	p.V361V	MAEA_uc003gdd.3_Non-coding_Transcript|MAEA_uc003gdb.3_Silent_p.V320V|MAEA_uc011bvb.2_Silent_p.V293V|MAEA_uc003gdc.3_Silent_p.V293V|MAEA_uc011bvc.2_Silent_p.V360V|MAEA_uc011bvd.2_Silent_p.V313V|MAEA_uc010ibt.3_Silent_p.V134V	NM_001017405	NP_001017405	Q7L5Y9	MAEA_HUMAN	Homo sapiens macrophage erythroblast attacher (MAEA), transcript variant 1, mRNA.	361					cell adhesion|cell cycle|cell division|erythrocyte maturation|negative regulation of myeloid cell apoptosis|regulation of mitotic cell cycle	actomyosin contractile ring|integral to plasma membrane|membrane fraction|nuclear matrix|spindle	actin binding			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(23;0.0201)			ACGGCTACGTCTACGGCTACA	0.662000														9			3		0	0	1	0	0
DNAJA3	9093	broad.mit.edu	37	16	4487459	4487459	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:4487459G>T	uc002cwk.3	+	2	479	c.402G>T	c.(400-402)aaG>aaT	p.K134N	DNAJA3_uc002cwl.3_Missense_Mutation_p.K134N|DNAJA3_uc010uxk.2_Intron	NM_005147	NP_005138	Q96EY1	DNJA3_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily A, member 3 (DNAJA3), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	134	J.				activation of caspase activity|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of cell proliferation|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of protein kinase activity|neuromuscular junction development|positive regulation of apoptosis|positive regulation of protein ubiquitination|protein folding|protein stabilization|response to heat|response to interferon-gamma	cytosol|mitochondrial matrix|mitochondrial nucleoid|nucleus	ATP binding|NF-kappaB binding|heat shock protein binding|interferon-gamma receptor binding|metal ion binding|protein kinase binding			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|upper_aerodigestive_tract(2)	15						CCAAGGAGAAGTTCTCCCAGC	0.443000														28			3		0.004672	0.00486265	1	1	0
KIAA0922	23240	broad.mit.edu	37	4	154557572	154557572	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:154557572G>A	uc010ipp.3	+	34	4729	c.4677G>A	c.(4675-4677)tcG>tcA	p.S1559S	KIAA0922_uc003inm.4_Silent_p.S1558S|KIAA0922_uc010ipq.3_Silent_p.S1327S	NM_001131007	NP_001124479	A2VDJ0	T131L_HUMAN	Homo sapiens KIAA0922 (KIAA0922), transcript variant 1, mRNA.	1558						integral to membrane				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				CGGAACATTCGACCCACATGG	0.522000														45			39		0	0	1	0	0
CYP20A1	57404	broad.mit.edu	37	2	204143395	204143395	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:204143395A>G	uc010zif.2	+	6	1425	c.803A>G	c.(802-804)aAc>aGc	p.N268S	CYP20A1_uc002uzv.4_Missense_Mutation_p.N260S|CYP20A1_uc002uzx.4_Missense_Mutation_p.N158S|CYP20A1_uc002uzy.4_Missense_Mutation_p.N158S|CYP20A1_uc002uzw.4_Non-coding_Transcript|CYP20A1_uc010ftw.3_5'UTR	NM_177538	NP_803882	Q6UW02	CP20A_HUMAN	Homo sapiens cytochrome P450, family 20, subfamily A, polypeptide 1 (CYP20A1), mRNA.	260						integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			cervix(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	11						GTACAAGGGAACCTTAATGAC	0.388000														26			16		0	0	1	0	0
FARP2	9855	broad.mit.edu	37	2	242402851	242402851	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:242402851C>T	uc002wbi.2	+	15	1943	c.1779C>T	c.(1777-1779)ttC>ttT	p.F593F	FARP2_uc010zoq.2_Silent_p.F593F|FARP2_uc010zor.2_Silent_p.F593F	NM_014808	NP_055623	O94887	FARP2_HUMAN	Homo sapiens FERM, RhoGEF and pleckstrin domain protein 2 (FARP2), mRNA.	593	DH.				Rac protein signal transduction|axon guidance|neuron remodeling|regulation of Rho protein signal transduction	cytoskeleton|cytosol|extrinsic to membrane	Rho guanyl-nucleotide exchange factor activity|cytoskeletal protein binding	p.F593L(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		ACAGAGGCTTCCTGCGCGAGG	0.587000														20			25		0	0	1	0	0
DEF8	54849	broad.mit.edu	37	16	90025469	90025469	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:90025469C>T	uc002fpn.2	+	5	736	c.603C>T	c.(601-603)cgC>cgT	p.R201R	DEF8_uc021tmu.1_Silent_p.R140R|DEF8_uc002fpl.3_Silent_p.R140R|DEF8_uc002fpm.3_Silent_p.R140R|DEF8_uc002fpo.2_Silent_p.R140R|DEF8_uc002fpp.2_Silent_p.R130R|DEF8_uc021tmv.1_Silent_p.R140R|DEF8_uc010vpq.2_Silent_p.R80R|DEF8_uc010vpr.2_Silent_p.R140R	NM_207514	NP_001229746	Q6ZN54	DEFI8_HUMAN	Homo sapiens differentially expressed in FDCP 8 homolog (mouse) (DEF8), transcript variant 1, mRNA.	201					intracellular signal transduction		zinc ion binding	p.H200L(1)		central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12		all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0274)		TTGAGCACCGCTTTTACAAGG	0.562000														123			8		0	0	1	0	0
MYO1H	283446	broad.mit.edu	37	12	109879449	109879449	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:109879449C>A	uc010sxn.1	+	24	2520	c.2520C>A	c.(2518-2520)atC>atA	p.I840I	MYO1H_uc010sxo.1_Silent_p.I31I	NM_001101421	NP_001094891	B4DNW6	B4DNW6_HUMAN	Homo sapiens myosin IH (MYO1H), mRNA.	31						myosin complex	motor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						CAAGTGAAATCTTCAGGGGAA	0.413000														22			4		0.00909568	0.00940365	1	1	0
KIAA1324	57535	broad.mit.edu	37	1	109707210	109707210	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:109707210A>G	uc021orb.1	+	2	585	c.364A>G	c.(364-366)Att>Gtt	p.I122V	KIAA1324_uc009wex.2_Missense_Mutation_p.I122V|KIAA1324_uc010ovg.2_Missense_Mutation_p.I20V|KIAA1324_uc009wey.3_Missense_Mutation_p.I122V	NM_020775	NP_065826	Q6UXG2	K1324_HUMAN	Homo sapiens KIAA1324 (KIAA1324), mRNA.	122					macroautophagy|positive regulation of vacuole organization|regulation of apoptosis	integral to plasma membrane				NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		CGGCACAGGCATTCGGTTTGA	0.577000														77			21		0	0	1	0	0
PRRC2B	84726	broad.mit.edu	37	9	134354638	134354638	+	Splice_Site	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:134354638G>T	uc004can.4	+	18	4814	c.4759_splice	c.e18-1	p.V1587_splice	PRRC2B_uc004cao.4_Splice_Site_p.V945_splice	NM_013318	NP_037450	Q5JSZ5	PRC2B_HUMAN	Homo sapiens proline-rich coiled-coil 2B (PRRC2B), mRNA.	1587							protein binding			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						CTTCCCCTCAGGTGCCTGTCA	0.498000														24			15		6.94344e-10	8.32448e-10	1	1	0
C1orf158	93190	broad.mit.edu	37	1	12806454	12806454	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:12806454G>A	uc001auh.3	+	0	292	c.76G>A	c.(76-78)Gtg>Atg	p.V26M	C1orf158_uc010obe.1_Missense_Mutation_p.V26M	NM_152290	NP_689503	Q8N1D5	CA158_HUMAN	Homo sapiens chromosome 1 open reading frame 158 (C1orf158), mRNA.	26										central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|ovary(1)|skin(2)|urinary_tract(3)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00575)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		TTCAACGAAAGTGCTCACTGG	0.488000														32			14		0	0	1	0	0
RCAN2	10231	broad.mit.edu	37	2	174131150	174131150	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:174131150C>A	uc002uhz.3	+	19	2275	c.2075C>A	c.(2074-2076)cCt>cAt	p.P692H	MLK7-AS1_uc002uib.3_Intron	NM_016653	NP_057737	Q14206	RCAN2_HUMAN	Homo sapiens sterile alpha motif and leucine zipper containing kinase AZK (ZAK), transcript variant 1, mRNA.	0					calcium-mediated signaling|central nervous system development		nucleotide binding|protein phosphatase 2B binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						AATTCTTCTCCTAGAGGAAGA	0.453000														72			9		1.58986e-06	1.80238e-06	1	1	0
PRDM10	56980	broad.mit.edu	37	11	129787027	129787027	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:129787027C>T	uc001qfm.3	-	15	2564	c.2332G>A	c.(2332-2334)Gat>Aat	p.D778N	PRDM10_uc001qfj.3_Missense_Mutation_p.D692N|PRDM10_uc001qfk.3_Missense_Mutation_p.D688N|PRDM10_uc001qfl.3_Missense_Mutation_p.D692N|PRDM10_uc010sbx.2_Missense_Mutation_p.D688N|PRDM10_uc001qfn.3_Missense_Mutation_p.D774N|PRDM10_uc009zcs.1_5'Flank	NM_020228	NP_064613	Q9NQV6	PRD10_HUMAN	Homo sapiens PR domain containing 10 (PRDM10), transcript variant 1, mRNA.	778					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.D774N(1)		breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		TTTACCTTATCGCAATACTGA	0.378000														37			25		0	0	1	0	0
CCAR1	55749	broad.mit.edu	37	10	70531163	70531163	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:70531163C>T	uc001joo.3	+	17	2618	c.2499C>T	c.(2497-2499)ggC>ggT	p.G833G	CCAR1_uc001jol.1_Non-coding_Transcript|CCAR1_uc001jom.1_Silent_p.G638G|CCAR1_uc009xpx.1_Silent_p.G807G|CCAR1_uc001jon.1_Silent_p.G779G|CCAR1_uc010qiz.1_Silent_p.G818G|CCAR1_uc010qja.1_Silent_p.G818G|CCAR1_uc010qjb.2_Non-coding_Transcript	NM_018237	NP_060707	Q8IX12	CCAR1_HUMAN	Homo sapiens cell division cycle and apoptosis regulator 1 (CCAR1), mRNA.	833	Glu-rich.				apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm|perinuclear region of cytoplasm	calcium ion binding|nucleic acid binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						gaaaatcaggcgatgataaag	0.318000														11			8		0	0	1	0	0
TGFB1I1	7041	broad.mit.edu	37	16	31487396	31487396	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:31487396G>A	uc002ecd.2	+	7	812	c.778G>A	c.(778-780)Gcc>Acc	p.A260T	TGFB1I1_uc021tgx.1_Missense_Mutation_p.A243T|TGFB1I1_uc002ece.2_Missense_Mutation_p.A243T	NM_001042454	NP_057011	O43294	TGFI1_HUMAN	Homo sapiens transforming growth factor beta 1 induced transcript 1 (TGFB1I1), transcript variant 1, mRNA.	260	LIM zinc-binding 1.				Wnt receptor signaling pathway|androgen receptor signaling pathway|cell adhesion|negative regulation of cell proliferation|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|transcription from RNA polymerase II promoter|ubiquitin-dependent SMAD protein catabolic process	cytoplasm|cytoskeleton|focal adhesion|nuclear matrix	I-SMAD binding|Roundabout binding|androgen receptor binding|transcription coactivator activity|zinc ion binding			lung(8)|upper_aerodigestive_tract(1)	9						CTGTTCCACCGCCCTGGGAGG	0.657000														27			32		0	0	1	0	0
TNRC6A	27327	broad.mit.edu	37	16	24815620	24815620	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:24815620C>T	uc002dmm.3	+	11	3931	c.3817C>T	c.(3817-3819)Cgc>Tgc	p.R1273C	TNRC6A_uc010bxs.3_Missense_Mutation_p.R1020C|TNRC6A_uc002dmn.3_Missense_Mutation_p.R1020C|TNRC6A_uc002dmo.3_Missense_Mutation_p.R961C|TNRC6A_uc002dmp.3_5'UTR|TNRC6A_uc002dmq.3_5'Flank	NM_014494	NP_055309	Q8NDV7	TNR6A_HUMAN	Homo sapiens trinucleotide repeat containing 6A (TNRC6A), mRNA.	1273	Sufficient for interaction with EIF2C1 and EIF2C4.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	RNA binding|nucleotide binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		TTCCATGGAGCGCAATCCTTA	0.378000														43			13		0	0	1	0	0
MAN2B2	23324	broad.mit.edu	37	4	6588879	6588879	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:6588879C>A	uc003gjf.1	+	3	584	c.548C>A	c.(547-549)gCc>gAc	p.A183D	MAN2B2_uc003gje.1_Missense_Mutation_p.A183D|MAN2B2_uc011bwf.1_Missense_Mutation_p.A183D	NM_015274	NP_056089	Q9Y2E5	MA2B2_HUMAN	Homo sapiens mannosidase, alpha, class 2B, member 2 (MAN2B2), mRNA.	183					mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding			breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						CTGAAGGCAGCCATGCAGGAG	0.652000														14			4		1	1	1	1	0
ABCC4	10257	broad.mit.edu	37	13	95724085	95724085	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:95724085A>G	uc001vmd.4	-	24	3160	c.3041T>C	c.(3040-3042)aTt>aCt	p.I1014T	ABCC4_uc010afk.3_Missense_Mutation_p.I967T	NM_005845	NP_005836	O15439	MRP4_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 4 (ABCC4), transcript variant 1, mRNA.	1014					platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	TGTGTATTCAATGACCCTTTC	0.433000														49			22		0	0	1	0	0
PRKAG2	51422	broad.mit.edu	37	7	151265822	151265822	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:151265822G>T	uc003wkk.3	-	10	1824	c.1213C>A	c.(1213-1215)Ctc>Atc	p.L405I	PRKAG2_uc003wki.3_Missense_Mutation_p.L164I|PRKAG2_uc011kvl.2_Missense_Mutation_p.L280I|PRKAG2_uc003wkj.3_Missense_Mutation_p.L361I|PRKAG2_uc003wkl.2_Intron|PRKAG2_uc010lqe.1_Non-coding_Transcript	NM_016203	NP_077747	Q9UGJ0	AAKG2_HUMAN	Homo sapiens protein kinase, AMP-activated, gamma 2 non-catalytic subunit (PRKAG2), transcript variant a, mRNA.	405	CBS 2.				ATP biosynthetic process|carnitine shuttle|cell cycle arrest|fatty acid biosynthetic process|glycogen metabolic process|insulin receptor signaling pathway|intracellular protein kinase cascade|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein kinase activity|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation|regulation of glucose import|regulation of glycolysis|sterol biosynthetic process	AMP-activated protein kinase complex|cytosol|nucleoplasm	ADP binding|ATP binding|cAMP-dependent protein kinase inhibitor activity|cAMP-dependent protein kinase regulator activity|phosphorylase kinase regulator activity|protein kinase activator activity|protein kinase binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|upper_aerodigestive_tract(1)	26	all_neural(206;0.187)	all_hematologic(28;0.0605)	OV - Ovarian serous cystadenocarcinoma(82;0.00252)	UCEC - Uterine corpus endometrioid carcinoma (81;0.185)		AGGAACTTGAGGATTCTTTTG	0.343000														76			6		0.00116845	0.00123466	1	1	0
AREG	374	broad.mit.edu	37	4	75314872	75314872	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:75314872G>T	uc021xpc.1	+	2	629	c.419G>T	c.(418-420)aGa>aTa	p.R140I		NM_001657	NP_001648	P15514	AREG_HUMAN	Homo sapiens amphiregulin (AREG), mRNA.	140					G-protein coupled receptor protein signaling pathway|cell proliferation|cell-cell signaling|epidermal growth factor receptor signaling pathway|positive regulation of DNA replication	cell surface|extracellular space|integral to membrane	cytokine activity|growth factor activity			lung(4)	4			Lung(101;0.196)			agaagaaacagaaagaagaaa	0.353000														9			8		8.00594e-06	8.94864e-06	1	1	0
PCDHGC5	56097	broad.mit.edu	37	5	140710700	140710700	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140710700C>T	uc003lji.2	+	0	449	c.449C>T	c.(448-450)aCc>aTc	p.T150I	PCDHGC5_uc011dan.2_Missense_Mutation_p.T150I	NM_018912	NP_061735	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 1 (PCDHGA1), transcript variant 1, mRNA.	150	Cadherin 2.				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)			ACTCCAGGTACCAGAGTCTCA	0.418000														111			71		0	0	1	0	0
ADRM1	11047	broad.mit.edu	37	20	60881369	60881369	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:60881369G>A	uc002ycn.3	+	3	527	c.447G>A	c.(445-447)gcG>gcA	p.A149A	ADRM1_uc011aai.1_Silent_p.A149A|ADRM1_uc002yco.3_Silent_p.A149A|ADRM1_uc002ycp.1_Non-coding_Transcript	NM_007002	NP_783163	Q16186	ADRM1_HUMAN	Homo sapiens adhesion regulating molecule 1 (ADRM1), transcript variant 1, mRNA.	149	Gly-rich.				proteasome assembly|transcription elongation from RNA polymerase II promoter	cytoplasm|integral to plasma membrane|membrane fraction|nucleus|proteasome complex	endopeptidase activator activity|protease binding|proteasome binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|urinary_tract(1)	5	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;2.51e-06)			AACTCTCTGCGCTAGGCGGTA	0.597000														112			12		0	0	1	0	0
CEP350	9857	broad.mit.edu	37	1	180063428	180063428	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:180063428C>A	uc001gnt.3	+	33	8571	c.8188C>A	c.(8188-8190)Ctg>Atg	p.L2730M	CEP350_uc009wxl.2_Missense_Mutation_p.L2729M|CEP350_uc001gnv.3_Missense_Mutation_p.L865M|CEP350_uc001gnw.1_Missense_Mutation_p.L487M|CEP350_uc001gnx.1_Missense_Mutation_p.L487M	NM_014810	NP_055625	Q5VT06	CE350_HUMAN	Homo sapiens centrosomal protein 350kDa (CEP350), mRNA.	2730						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						AAAAAACCAACTGGAAGCCCA	0.373000														29			11		6.40141e-05	6.99953e-05	1	1	0
FGF9	2254	broad.mit.edu	37	13	22275412	22275412	+	Silent	SNP	C	T	T	rs143118647		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:22275412C>T	uc001uog.2	+	2	1302	c.465C>T	c.(463-465)caC>caT	p.H155H		NM_002010	NP_002001	P31371	FGF9_HUMAN	Homo sapiens fibroblast growth factor 9 (glia-activating factor) (FGF9), mRNA.	155					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|male gonad development|positive regulation of cell division	extracellular space	growth factor activity|heparin binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|skin(2)	9		all_cancers(29;1.23e-20)|all_epithelial(30;9.83e-19)|all_lung(29;9.64e-17)|Lung SC(185;0.0262)|Breast(139;0.106)		all cancers(112;3.92e-05)|Epithelial(112;0.000166)|OV - Ovarian serous cystadenocarcinoma(117;0.00314)|Lung(94;0.163)		TATATAAGCACGTGGACACTG	0.388000														64			7		0	0	1	0	0
SPTBN4	57731	broad.mit.edu	37	19	41009792	41009792	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:41009792C>T	uc002ony.3	+	11	1504	c.1418C>T	c.(1417-1419)gCg>gTg	p.A473V	SPTBN4_uc002onx.3_Missense_Mutation_p.A473V|SPTBN4_uc002onz.3_Missense_Mutation_p.A473V	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 4 (SPTBN4), transcript variant sigma1, mRNA.	473					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	PML body|cytosol|nuclear matrix|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			AAACACGAAGCGATCGAGGCA	0.627000														24			4		0	0	1	0	0
FYCO1	79443	broad.mit.edu	37	3	45965194	45965194	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:45965194G>A	uc011bal.1	-	16	4487	c.4375C>T	c.(4375-4377)Cgc>Tgc	p.R1459C	FYCO1_uc003cpb.4_Missense_Mutation_p.R1439C	NM_024513	NP_078789	Q9BQS8	FYCO1_HUMAN	Homo sapiens FYVE and coiled-coil domain containing 1 (FYCO1), mRNA.	1439	GOLD.				transport	integral to membrane	metal ion binding|protein binding			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		CCGGGTGTGCGAACCTTGAGC	0.557000														42			27		0	0	1	0	0
FRMPD4	9758	broad.mit.edu	37	X	12734904	12734904	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:12734904T>C	uc004cuz.2	+	14	2832	c.2326T>C	c.(2326-2328)Tca>Cca	p.S776P	FRMPD4_uc011mij.2_Missense_Mutation_p.S768P	NM_014728	NP_055543	Q14CM0	FRPD4_HUMAN	Homo sapiens FERM and PDZ domain containing 4 (FRMPD4), mRNA.	776					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						CCTGTCTGGGTCAAGCGATGA	0.572000														127			17		0	0	1	0	0
DCHS1	8642	broad.mit.edu	37	11	6643931	6643931	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6643931C>T	uc001mem.1	-	20	9377	c.8976G>A	c.(8974-8976)gaG>gaA	p.E2992E	DCHS1_uc021qdb.1_5'Flank	NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	Homo sapiens dachsous 1 (Drosophila) (DCHS1), mRNA.	2992					calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GACTAGGTGGCTCCCGGCCCA	0.642000														2			4		0	0	1	0	0
TIAM2	26230	broad.mit.edu	37	6	155458711	155458711	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:155458711G>A	uc003qqb.3	+	6	2868	c.1595G>A	c.(1594-1596)cGa>cAa	p.R532Q	TIAM2_uc003qqe.3_Missense_Mutation_p.R532Q|TIAM2_uc010kjj.3_Missense_Mutation_p.R65Q	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN	Homo sapiens T-cell lymphoma invasion and metastasis 2 (TIAM2), transcript variant 1, mRNA.	532	PH 1.				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	Rho guanyl-nucleotide exchange factor activity|receptor signaling protein activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		CTGGTGGCACGAAGGAAATGG	0.572000														33			16		0	0	1	0	0
TBC1D14	57533	broad.mit.edu	37	4	7002978	7002978	+	Splice_Site	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:7002978G>A	uc011bwg.2	+	7	1349	c.1270_splice	c.e7+1	p.E424_splice	TBC1D14_uc003gjs.4_Splice_Site_p.E424_splice|TBC1D14_uc010idh.3_Splice_Site_p.E144_splice|TBC1D14_uc011bwh.2_Splice_Site_p.E37_splice|TBC1D14_uc003gju.4_Splice_Site	NM_001113361	NP_065824	Q9P2M4	TBC14_HUMAN	Homo sapiens TBC1 domain family, member 14 (TBC1D14), transcript variant 2, mRNA.	424	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			breast(1)|endometrium(5)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	22						TATCACCCACGGTGAGTGGCC	0.517000														17			4		0	0	1	0	0
MOGAT3	346606	broad.mit.edu	37	7	100843729	100843729	+	Nonsense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100843729G>T	uc003uyc.3	-	1	344	c.177C>A	c.(175-177)taC>taA	p.Y59*	MOGAT3_uc010lhr.3_Nonsense_Mutation_p.Y59*	NM_178176	NP_835470	Q86VF5	MOGT3_HUMAN	Homo sapiens monoacylglycerol O-acyltransferase 3 (MOGAT3), mRNA.	59					glycerol metabolic process|lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity|diacylglycerol O-acyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(3)	22	Lung NSC(181;0.168)|all_lung(186;0.215)					GCCACACCAAGTAAAAAACAG	0.557000														11			6		3.59834e-05	3.95114e-05	1	1	0
HIP1	3092	broad.mit.edu	37	7	75184725	75184725	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:75184725G>A	uc003uds.2	-	18	2003	c.1958C>T	c.(1957-1959)tCt>tTt	p.S653F	HIP1_uc011kfz.2_Missense_Mutation_p.S653F	NM_005338	NP_005329	O00291	HIP1_HUMAN	Homo sapiens huntingtin interacting protein 1 (HIP1), transcript variant 1, mRNA.	653					activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|clathrin coated vesicle membrane|cytoskeleton|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						TGTACCTGCAGACCCAGCGCA	0.557000			T	PDGFRB	CMML									51			12		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179409203	179409203	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179409203A>G	uc021vsy.1	-	293	88274	c.88049T>C	c.(88048-88050)gTt>gCt	p.V29350A	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.V23045A|TTN_uc021vta.1_Missense_Mutation_p.V22978A|TTN_uc021vtb.1_Missense_Mutation_p.V22853A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	30277	Ig-like 134.						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)			GGTATCCACAACTCTTGGAGC	0.403000														92			10		0	0	1	0	0
TRIM22	10346	broad.mit.edu	37	11	5719631	5719631	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:5719631G>A	uc001mbr.3	+	3	985	c.606G>A	c.(604-606)ctG>ctA	p.L202L	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Silent_p.L170L|TRIM22_uc010qzm.2_Silent_p.L30L|TRIM22_uc009yes.3_Silent_p.L198L	NM_006074	NP_006065	Q8IYM9	TRI22_HUMAN	Homo sapiens tripartite motif containing 22 (TRIM22), transcript variant 1, mRNA.	202					immune response|interspecies interaction between organisms|protein trimerization|response to virus	Cajal body|Golgi apparatus|nuclear speck	ligase activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			kidney(3)|large_intestine(8)|lung(9)|prostate(1)|stomach(2)	23		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14)		AGAGAGAGCTGCAAAAGCTGG	0.488000														27			25		0	0	1	0	0
TRIM42	287015	broad.mit.edu	37	3	140407030	140407030	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:140407030C>T	uc003eto.2	+	2	1712	c.1506C>T	c.(1504-1506)gaC>gaT	p.D502D		NM_152616	NP_689829	Q8IWZ5	TRI42_HUMAN	Homo sapiens tripartite motif containing 42 (TRIM42), mRNA.	502						intracellular	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CCTCAGGGGACTCCCTGCCCT	0.557000														28			15		0	0	1	0	0
WDR63	126820	broad.mit.edu	37	1	85589885	85589885	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:85589885T>C	uc001dkt.3	+	18	2254	c.2063T>C	c.(2062-2064)aTt>aCt	p.I688T	WDR63_uc009wcl.3_Missense_Mutation_p.I649T	NM_145172	NP_660155	Q8IWG1	WDR63_HUMAN	Homo sapiens WD repeat domain 63 (WDR63), mRNA.	688										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		AACGACATTATTCTCACGGTT	0.443000														134			60		0	0	1	0	0
TEKT5	146279	broad.mit.edu	37	16	10721459	10721459	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:10721459C>T	uc002czz.1	-	6	1511	c.1439G>A	c.(1438-1440)cGc>cAc	p.R480H		NM_144674	NP_653275	Q96M29	TEKT5_HUMAN	Homo sapiens tektin 5 (TEKT5), mRNA.	480					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		p.P479P(1)|p.P479L(1)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						GCCCACCAGGCGCGGGGTGCA	0.567000														63			34		0	0	1	0	0
ANKRD6	22881	broad.mit.edu	37	6	90340257	90340257	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:90340257G>A	uc003pni.4	+	15	2059	c.1718G>A	c.(1717-1719)aGa>aAa	p.R573K	ANKRD6_uc003pne.4_Missense_Mutation_p.R568K|ANKRD6_uc003pnf.4_Missense_Mutation_p.R538K|ANKRD6_uc011dzy.2_Missense_Mutation_p.R573K|ANKRD6_uc010kcd.3_Missense_Mutation_p.R509K|LYRM2_uc010kce.2_Intron|LYRM2_uc003png.3_Intron|LYRM2_uc010kcf.1_Intron|ANKRD6_uc003pnj.4_Missense_Mutation_p.R169K	NM_001242809	NP_001229738	Q9Y2G4	ANKR6_HUMAN	Homo sapiens ankyrin repeat domain 6 (ANKRD6), transcript variant 1, mRNA.	573							protein binding			NS(1)|endometrium(3)|large_intestine(7)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|stomach(2)	21		all_cancers(76;1.22e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;1.83e-05)|Lung NSC(302;0.239)		BRCA - Breast invasive adenocarcinoma(108;0.0209)		GCTACCCAGAGACTCCAGCAG	0.567000														17			9		0	0	1	0	0
GPR113	165082	broad.mit.edu	37	2	26532842	26532842	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:26532842G>T	uc002rhe.4	-	12	3210	c.3210C>A	c.(3208-3210)tcC>tcA	p.S1070S	GPR113_uc010yky.1_Intron|GPR113_uc002rhb.1_Intron|GPR113_uc010eyk.1_Intron|GPR113_uc002rhc.1_Intron|GPR113_uc002rhd.1_Intron	NM_001145168	NP_001138640	Q8IZF5	GP113_HUMAN	Homo sapiens G protein-coupled receptor 113 (GPR113), transcript variant 1, mRNA.	1070					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGTCCTCTGAGGAGGGCCATG	0.552000														19			17		2.23348e-06	2.52156e-06	1	1	0
BRF1	2972	broad.mit.edu	37	14	105677540	105677540	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:105677540C>T	uc001yqp.2	-	16	2278	c.1915G>A	c.(1915-1917)Gac>Aac	p.D639N	BRF1_uc010tyo.1_Missense_Mutation_p.D524N|BRF1_uc010typ.1_Missense_Mutation_p.D546N|BRF1_uc001yqk.2_Missense_Mutation_p.D165N|BRF1_uc001yql.2_Missense_Mutation_p.D435N|BRF1_uc001yqo.2_Missense_Mutation_p.D401N|BRF1_uc010axg.1_Missense_Mutation_p.D612N|BRF1_uc001yqn.2_Intron|BRF1_uc010axh.1_Intron|BRF1_uc010axi.1_3'UTR	NM_001519	NP_663718	Q92994	TF3B_HUMAN	Homo sapiens BRF1 homolog, subunit of RNA polymerase III transcription initiation factor IIIB (S. cerevisiae) (BRF1), transcript variant 1, mRNA.	639					positive regulation of transcription, DNA-dependent|rRNA transcription|tRNA transcription|transcription initiation from RNA polymerase III promoter	transcription factor TFIIIB complex	translation initiation factor activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221)	Epithelial(152;0.14)		GCCTCCTCGTCGGCGTGGTAT	0.682000														18			24		0	0	1	0	0
C15orf60	283677	broad.mit.edu	37	15	73848684	73848684	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:73848684G>A	uc002avq.3	+	4	616	c.588G>A	c.(586-588)gcG>gcA	p.A196A	C15orf60_uc010bjb.3_Silent_p.A168A	NM_001042367	NP_001035826	Q7Z4M0	CO060_HUMAN	Homo sapiens chromosome 15 open reading frame 60 (C15orf60), mRNA.	196										endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|pancreas(1)|prostate(2)	17						GTGTAACAGCGGGCACAGGCG	0.463000														43			4		0	0	1	0	0
PLXNB2	23654	broad.mit.edu	37	22	50719202	50719202	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:50719202G>T	uc003bkv.4	-	23	4057	c.3964C>A	c.(3964-3966)Ctg>Atg	p.L1322M	PLXNB2_uc003bkt.1_Missense_Mutation_p.L114M|PLXNB2_uc003bku.1_Missense_Mutation_p.L307M	NM_012401	NP_036533	O15031	PLXB2_HUMAN	Homo sapiens plexin B2 (PLXNB2), mRNA.	1322					regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CTGTTCAGCAGGTTGGAGAAC	0.662000														19			7		1.06961e-07	1.2399e-07	1	1	0
CNR2	1269	broad.mit.edu	37	1	24201629	24201629	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:24201629A>C	uc021oij.1	-	0	479	c.479T>G	c.(478-480)cTc>cGc	p.L160R	CNR2_uc001bif.3_Missense_Mutation_p.L160R	NM_001841	NP_001832	P34972	CNR2_HUMAN	Homo sapiens cannabinoid receptor 2 (macrophage) (CNR2), mRNA.	160					G-protein signaling, coupled to cyclic nucleotide second messenger|behavior|immune response|inflammatory response	dendrite|integral to plasma membrane|perikaryon	cannabinoid receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(9)|pancreas(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(2)	26		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.32e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;2.9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.146)	Nabilone(DB00486)	TAGTGCTGAGAGGACCCACAT	0.587000														40			11		0	0	1	0	0
MED24	9862	broad.mit.edu	37	17	38178736	38178736	+	Splice_Site	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:38178736G>T	uc002hts.3	-	21	2708	c.2508_splice	c.e21-1	p.K836_splice	MED24_uc010weq.2_5'Flank|MED24_uc010wer.2_Splice_Site_p.K146_splice|MED24_uc010wes.2_Splice_Site_p.K671_splice|MED24_uc010wet.2_Intron|MED24_uc002htt.3_Splice_Site_p.K811_splice|MED24_uc002htu.3_Splice_Site_p.K798_splice|MED24_uc010cwn.3_Splice_Site_p.K798_splice|MED24_uc010weu.2_Splice_Site_p.K721_splice|MED24_uc010wev.1_Splice_Site_p.K761_splice	NM_014815	NP_055630	O75448	MED24_HUMAN	Homo sapiens mediator complex subunit 24 (MED24), transcript variant 1, mRNA.	811					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	mediator complex	RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	41	Colorectal(19;0.000442)					CACACGGCCAGCCTGGCAAAG	0.622000														11			3		0.115264	0.116841	1	1	0
CLCN6	1185	broad.mit.edu	37	1	11898641	11898641	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:11898641C>A	uc001ate.4	+	21	2566	c.2453C>A	c.(2452-2454)aCc>aAc	p.T818N	CLCN6_uc010oat.2_Missense_Mutation_p.T534N|CLCN6_uc010oau.2_Missense_Mutation_p.T796N|CLCN6_uc010oba.1_5'Flank|CLCN6_uc010oav.1_5'Flank|CLCN6_uc010oay.1_5'Flank|CLCN6_uc010oax.1_5'Flank|CLCN6_uc010oaw.1_5'Flank|CLCN6_uc010oaz.1_5'Flank	NM_001286	NP_001277	P51797	CLCN6_HUMAN	Homo sapiens chloride channel 6 (CLCN6), transcript variant ClC-6a, mRNA.	818	CBS 2.				cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	ATP binding|antiporter activity|voltage-gated chloride channel activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		TCGCCCAACACCCACGTCTCC	0.617000											OREG0013104	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		41			5		0.0293803	0.0299714	1	1	0
LARP4	113251	broad.mit.edu	37	12	50829388	50829388	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:50829388A>G	uc001rwp.2	+	4	718	c.516A>G	c.(514-516)ctA>ctG	p.L172L	LARP4_uc001rwq.2_Silent_p.L172L|LARP4_uc001rwt.2_Silent_p.L172L|LARP4_uc001rws.2_Silent_p.L171L|LARP4_uc001rwr.2_Silent_p.L172L|LARP4_uc021qxv.1_Silent_p.L102L|LARP4_uc009zlr.1_5'Flank|LARP4_uc001rwm.3_Silent_p.L172L|LARP4_uc001rwn.3_Silent_p.L102L	NM_052879	NP_443111	Q71RC2	LARP4_HUMAN	Homo sapiens La ribonucleoprotein domain family, member 4 (LARP4), transcript variant 1, mRNA.	172	HTH La-type RNA-binding.						RNA binding|nucleotide binding			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						ACCCTGATCTAATTCTTGAAG	0.294000														57			4		0	0	1	0	0
CRYZL1	9946	broad.mit.edu	37	21	34975779	34975779	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:34975779G>T	uc021wio.1	-	6	576	c.396C>A	c.(394-396)gcC>gcA	p.A132A	DONSON_uc002ysn.1_Intron|CRYZL1_uc002ysr.1_Silent_p.A156A|CRYZL1_uc002yss.1_Non-coding_Transcript|CRYZL1_uc002yst.1_Non-coding_Transcript	NM_145858	NP_665857	O95825	QORL1_HUMAN	Homo sapiens crystallin, zeta (quinone reductase)-like 1 (CRYZL1), mRNA.	132					quinone cofactor metabolic process	cytosol	NADP binding|NADPH:quinone reductase activity|zinc ion binding			lung(1)|prostate(1)|urinary_tract(1)	3						GAGCTGTATAGGCACGCACTC	0.418000														129			9		0.0692343	0.0703432	1	1	0
GNL3	26354	broad.mit.edu	37	3	52724667	52724667	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52724667A>G	uc003dfd.3	+	6	774	c.601A>G	c.(601-603)Aca>Gca	p.T201A	GNL3_uc011beh.1_Non-coding_Transcript|GNL3_uc003dfe.3_Missense_Mutation_p.T189A|GNL3_uc003dff.3_Missense_Mutation_p.T189A|SNORD19B_uc010hml.1_5'Flank|SNORD69_uc003dfh.1_5'Flank	NM_014366	NP_996562	Q9BVP2	GNL3_HUMAN	Homo sapiens guanine nucleotide binding protein-like 3 (nucleolar) (GNL3), transcript variant 1, mRNA.	201					regulation of cell proliferation	nucleolus	GTP binding|protein binding			breast(4)|endometrium(3)|large_intestine(3)|lung(2)	12				BRCA - Breast invasive adenocarcinoma(193;6.75e-05)|Kidney(197;0.000611)|KIRC - Kidney renal clear cell carcinoma(197;0.000773)|OV - Ovarian serous cystadenocarcinoma(275;0.048)		AGAATTGCCAACAGTGGTGTT	0.388000														275			11		0	0	1	0	0
TDRD3	81550	broad.mit.edu	37	13	61060002	61060002	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:61060002C>T	uc001vhz.4	+	6	1146	c.358C>T	c.(358-360)Cct>Tct	p.P120S	TDRD3_uc010aef.2_5'UTR|TDRD3_uc001via.3_Missense_Mutation_p.P120S|TDRD3_uc010aeg.3_Missense_Mutation_p.P213S|TDRD3_uc001vib.4_Missense_Mutation_p.P119S	NM_001146071	NP_110421	Q9H7E2	TDRD3_HUMAN	Homo sapiens tudor domain containing 3 (TDRD3), transcript variant 3, mRNA.	120					chromatin modification	cytoplasm|nucleus	chromatin binding|methylated histone residue binding|nucleic acid binding|transcription coactivator activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	40		Prostate(109;0.173)|Breast(118;0.174)		GBM - Glioblastoma multiforme(99;0.000291)		AGTTACAATGCCTGTCAAACC	0.353000														26			14		0	0	1	0	0
LPL	4023	broad.mit.edu	37	8	19805744	19805744	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:19805744G>T	uc003wzk.4	+	1	512	c.142G>T	c.(142-144)Gac>Tac	p.D48Y		NM_000237	NP_000228	P06858	LIPL_HUMAN	Homo sapiens lipoprotein lipase (LPL), mRNA.	48					fatty acid biosynthetic process|lipoprotein metabolic process|phospholipid metabolic process|positive regulation of cholesterol storage|positive regulation of sequestering of triglyceride|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	anchored to membrane|chylomicron|plasma membrane|very-low-density lipoprotein particle	heparin binding|lipoprotein lipase activity|phospholipase activity|receptor binding|triglyceride lipase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	36				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	Clofibrate(DB00636)|Gemfibrozil(DB01241)|Orlistat(DB01083)	GACCCCTGAAGACACAGCTGA	0.458000														95			16		1.99824e-07	2.30332e-07	1	1	0
CXCR5	643	broad.mit.edu	37	11	118764321	118764321	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:118764321G>T	uc001pue.4	+	1	244	c.68G>T	c.(67-69)aGa>aTa	p.R23I	CXCR5_uc001puf.3_5'UTR	NM_001716	NP_116743	P32302	CXCR5_HUMAN	Homo sapiens chemokine (C-X-C motif) receptor 5 (CXCR5), transcript variant 1, mRNA.	23					B cell activation|cellular component movement	integral to plasma membrane	C-X-C chemokine receptor activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.62e-05)		GAACTGGACAGATTGGACAAC	0.567000														48			33		2.87052e-16	3.63568e-16	1	1	0
TXNIP	10628	broad.mit.edu	37	1	145441193	145441193	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:145441193G>A	uc001enn.4	+	7	1492	c.1151G>A	c.(1150-1152)tGc>tAc	p.C384Y	TXNIP_uc010oys.2_Missense_Mutation_p.C329Y	NM_006472	NP_006463	Q9H3M7	TXNIP_HUMAN	Homo sapiens thioredoxin interacting protein (TXNIP), mRNA.	384					cell cycle|keratinocyte differentiation|transcription, DNA-dependent		ubiquitin protein ligase binding			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GTGGATCCCTGCATCCTCAAC	0.383000														41			9		0	0	1	0	0
FOCAD	54914	broad.mit.edu	37	9	20949643	20949643	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:20949643G>T	uc003zog.1	+	34	4280	c.3917G>T	c.(3916-3918)aGa>aTa	p.R1306I	FOCAD_uc003zoh.1_Missense_Mutation_p.R742I	NM_017794	NP_060264	Q5VW36	K1797_HUMAN	Homo sapiens KIAA1797 (KIAA1797), mRNA.	1306						integral to membrane	binding										TTTCAAGGCAGACTTAATGAA	0.363000														71			10		1.08611e-07	1.25606e-07	1	1	0
CD2BP2	10421	broad.mit.edu	37	16	30364965	30364965	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:30364965G>A	uc002dxr.3	-	3	785	c.532C>T	c.(532-534)Ctg>Ttg	p.L178L	CD2BP2_uc002dxs.3_Silent_p.L178L	NM_001243646	NP_001230575	O95400	CD2B2_HUMAN	Homo sapiens CD2 (cytoplasmic tail) binding protein 2 (CD2BP2), transcript variant 2, mRNA.	178					assembly of spliceosomal tri-snRNP	U5 snRNP|cytoplasm|nucleoplasm	protein binding|ribonucleoprotein binding			breast(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	15						CGGGCCCCCAGACGCCTCAGT	0.647000														10			6		0	0	1	0	0
PPAT	5471	broad.mit.edu	37	4	57267048	57267048	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:57267048A>C	uc003hbr.3	-	7	1075	c.916T>G	c.(916-918)Tgt>Ggt	p.C306G		NM_002703	NP_002694	Q06203	PUR1_HUMAN	Homo sapiens phosphoribosyl pyrophosphate amidotransferase (PPAT), mRNA.	306					glutamine metabolic process|nucleoside metabolic process|purine base biosynthetic process|purine ribonucleoside monophosphate biosynthetic process	cytosol	4 iron, 4 sulfur cluster binding|amidophosphoribosyltransferase activity|metal ion binding			cervix(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	20	Glioma(25;0.08)|all_neural(26;0.101)				L-Glutamine(DB00130)|Thioguanine(DB00352)	TGCTGGCCACAACGGTATCTT	0.423000														85			9		0	0	1	0	0
COPA	1314	broad.mit.edu	37	1	160275249	160275249	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:160275249G>A	uc001fvv.4	-	16	2062	c.1668C>T	c.(1666-1668)aaC>aaT	p.N556N	COPA_uc009wti.3_Silent_p.N547N|COPA_uc009wtj.1_Silent_p.N493N	NM_001098398	NP_001091868	P53621	COPA_HUMAN	Homo sapiens coatomer protein complex, subunit alpha (COPA), transcript variant 1, mRNA.	547					COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			ATTTGATGTGGTTGCTTGTGG	0.428000														105			9		0	0	1	0	0
ARHGAP29	9411	broad.mit.edu	37	1	94685814	94685814	+	Splice_Site	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:94685814C>T	uc001dqj.4	-	3	709	c.340_splice	c.e3+1	p.A114_splice	ARHGAP29_uc009wdq.1_Splice_Site|ARHGAP29_uc001dql.3_Splice_Site_p.A114_splice	NM_004815	NP_004806	Q52LW3	RHG29_HUMAN	Homo sapiens Rho GTPase activating protein 29 (ARHGAP29), mRNA.	114					Rho protein signal transduction	cytosol	Rho GTPase activator activity|metal ion binding			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		TCTTCCTTACCTTTCACTTTT	0.368000														160			13		0	0	1	0	0
DDX11	1663	broad.mit.edu	37	12	31255888	31255888	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:31255888C>T	uc001rjt.1	+	23	2642	c.2391C>T	c.(2389-2391)ggC>ggT	p.G797G	DDX11_uc001rjr.1_Silent_p.G797G|DDX11_uc001rjs.1_Silent_p.G747G|DDX11_uc001rju.1_Silent_p.G469G|DDX11_uc001rjv.1_Silent_p.G797G|DDX11_uc001rjw.1_Silent_p.G771G|DDX11_uc009zjn.1_Non-coding_Transcript|DDX11_uc009zjo.1_Intron	NM_152438	NP_689651	Q96FC9	DDX11_HUMAN	Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (DDX11), transcript variant 3, mRNA.	797					G2/M transition of mitotic cell cycle|S phase of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|RNA binding|protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					TGATGGTGGGCATGCCCTTCC	0.607000										Multiple Myeloma(12;0.14)				33			4		0	0	1	0	0
ILF2	3608	broad.mit.edu	37	1	153637767	153637767	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:153637767G>A	uc001fcr.3	-	7	587	c.506C>T	c.(505-507)tCt>tTt	p.S169F	ILF2_uc010pdy.2_Missense_Mutation_p.S131F|ILF2_uc009wol.1_3'UTR	NM_004515	NP_004506	Q12905	ILF2_HUMAN	Homo sapiens interleukin enhancer binding factor 2, 45kDa (ILF2), mRNA.	169	DZF.				immune response|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|ribonucleoprotein complex	ATP binding|DNA binding|double-stranded RNA binding|protein binding|transferase activity	p.S168S(1)		cervix(1)|kidney(1)|lung(4)|skin(1)	7	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			TGTAGCATCAGAAGAACTGAT	0.353000														58			30		0	0	1	0	0
SNTG2	54221	broad.mit.edu	37	2	1241667	1241667	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:1241667G>A	uc002qwq.3	+	9	856	c.727G>A	c.(727-729)Gcg>Acg	p.A243T	SNTG2_uc010ewi.3_Missense_Mutation_p.A116T	NM_018968	NP_061841	Q9NY99	SNTG2_HUMAN	Homo sapiens syntrophin, gamma 2 (SNTG2), mRNA.	243					central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	PDZ domain binding|actin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		CAGGTGGAATGCGTTCGAGGT	0.657000														3			3		0	0	1	0	0
CNTN5	53942	broad.mit.edu	37	11	99827614	99827614	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:99827614G>T	uc001pga.3	+	7	1254	c.750G>T	c.(748-750)gaG>gaT	p.E250D	CNTN5_uc009ywv.2_Missense_Mutation_p.E250D|CNTN5_uc001pfz.3_Missense_Mutation_p.E250D|CNTN5_uc021qpb.1_Missense_Mutation_p.E250D|CNTN5_uc021qpc.1_Missense_Mutation_p.E176D	NM_014361	NP_055176	O94779	CNTN5_HUMAN	Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA.	250	Ig-like C2-type 2.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		TCTCCCAGGAGACAGGCAACC	0.428000														48			24		6.32553e-13	7.83728e-13	1	1	0
LPA	4018	broad.mit.edu	37	6	161010738	161010738	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:161010738G>A	uc003qtl.3	-	24	3914	c.3794C>T	c.(3793-3795)aCg>aTg	p.T1265M		NM_005577	NP_005568	P08519	APOA_HUMAN	Homo sapiens lipoprotein, Lp(a) (LPA), mRNA.	3773	Kringle 11.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	GCTTTGCTCCGTTGGTGCTGA	0.448000														23			25		0	0	1	0	0
GTSE1	51512	broad.mit.edu	37	22	46704517	46704517	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:46704517C>A	uc011aqy.2	+	3	651	c.439C>A	c.(439-441)Ctc>Atc	p.L147I	GTSE1_uc011aqz.2_5'UTR	NM_016426	NP_057510	Q9NYZ3	GTSE1_HUMAN	Homo sapiens G-2 and S-phase expressed 1 (GTSE1), mRNA.	128					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process	cytoplasmic microtubule				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		AAAAATAAACCTCTTTGAGAA	0.517000														68			11		3.86212e-05	4.23294e-05	1	1	0
ZFYVE21	79038	broad.mit.edu	37	14	104194142	104194142	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:104194142G>A	uc001yod.3	+	2	347	c.249G>A	c.(247-249)ccG>ccA	p.P83P	ZFYVE21_uc001yoc.3_Silent_p.P83P|JA611241_uc021sei.1_5'Flank	NM_001198953	NP_001185882	Q9BQ24	ZFY21_HUMAN	Homo sapiens zinc finger, FYVE domain containing 21 (ZFYVE21), transcript variant 1, mRNA.	83						cytoplasmic membrane-bounded vesicle|focal adhesion	metal ion binding			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(2)	8		Melanoma(154;0.226)		Epithelial(152;0.245)		AGAAGGTGCCGCTGCGGCGCA	0.662000														26			16		0	0	1	0	0
CLCN2	1181	broad.mit.edu	37	3	184073305	184073305	+	Nonsense_Mutation	SNP	C	A	A	rs146097084		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:184073305C>A	uc003foi.3	-	11	1307	c.1183G>T	c.(1183-1185)Gag>Tag	p.E395*	CLCN2_uc003foh.3_5'UTR|CLCN2_uc010hya.2_Nonsense_Mutation_p.E395*|CLCN2_uc011brl.2_Nonsense_Mutation_p.E395*|CLCN2_uc011brm.2_Nonsense_Mutation_p.E351*|CLCN2_uc011brn.1_Nonsense_Mutation_p.E395*	NM_004366	NP_004357	P51788	CLCN2_HUMAN	Homo sapiens chloride channel 2 (CLCN2), transcript variant 1, mRNA.	395						chloride channel complex	voltage-gated chloride channel activity			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	ACCAGCGTCTCTTTCTGTGAG	0.612000														51			12		0.000978159	0.00103832	1	1	0
OPA1	4976	broad.mit.edu	37	3	193355763	193355763	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:193355763G>T	uc003ftg.3	+	10	1292	c.1058G>T	c.(1057-1059)aGt>aTt	p.S353I	OPA1_uc003fth.3_Missense_Mutation_p.S317I|OPA1_uc003fti.3_Missense_Mutation_p.S335I|OPA1_uc003ftj.3_Missense_Mutation_p.S316I|OPA1_uc003ftk.3_Missense_Mutation_p.S299I|OPA1_uc003ftl.3_Missense_Mutation_p.S280I|OPA1_uc003ftm.3_Missense_Mutation_p.S298I|OPA1_uc003ftn.3_Missense_Mutation_p.S262I	NM_130837	NP_570850	O60313	OPA1_HUMAN	Homo sapiens optic atrophy 1 (autosomal dominant) (OPA1), nuclear gene encoding mitochondrial protein, transcript variant 8, mRNA.	298					apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception	dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane	GTP binding|GTPase activity|magnesium ion binding|protein binding			breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		GGAGATCAGAGTGCTGGAAAG	0.388000														28			4		0.00909568	0.00940365	1	1	0
CTF1	1489	broad.mit.edu	37	16	30910766	30910766	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:30910766T>G	uc002dzw.3	+	1	93	c.56T>G	c.(55-57)cTt>cGt	p.L19R	CTF1_uc002dzx.3_Missense_Mutation_p.L18R	NM_001330	NP_001321	Q16619	CTF1_HUMAN	Homo sapiens cardiotrophin 1 (CTF1), transcript variant 1, mRNA.	19					cell proliferation|cell-cell signaling|muscle organ development|positive regulation of cell proliferation	extracellular space	cytokine activity|leukemia inhibitory factor receptor binding			large_intestine(1)|urinary_tract(1)	2			Colorectal(24;0.198)			TCAGTCTCACTTCTTCCCCAC	0.562000														53			4		0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1279402	1279402	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:1279402G>A	uc001lta.3	+	41	16583	c.16524G>A	c.(16522-16524)gaG>gaA	p.E5508E		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	5508					cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GCACCCAGGAGGAGGGCGACT	0.697000														5			3		0	0	1	0	0
ZNF786	136051	broad.mit.edu	37	7	148768624	148768624	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:148768624C>T	uc003wfh.2	-	3	1377	c.1240G>A	c.(1240-1242)Gtc>Atc	p.V414I	ZNF786_uc011kuk.1_Missense_Mutation_p.V377I|ZNF786_uc003wfi.2_Missense_Mutation_p.V328I	NM_152411	NP_689624	Q8N393	ZN786_HUMAN	Homo sapiens zinc finger protein 786 (ZNF786), mRNA.	414					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			TGCTGGTGGACCTGCAGCAGG	0.642000														28			17		0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126336687	126336687	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:126336687G>A	uc003ifj.4	+	4	6569	c.6569G>A	c.(6568-6570)cGc>cAc	p.R2190H	FAT4_uc011cgp.2_Missense_Mutation_p.R488H	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	2190	Cadherin 21.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GGACAGGTTCGCTATGGCATT	0.413000														103			18		0	0	1	0	0
UBQLN2	29978	broad.mit.edu	37	X	56590893	56590893	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:56590893C>T	uc004dus.3	+	0	868	c.587C>T	c.(586-588)tCg>tTg	p.S196L	UBQLN2_uc011moq.1_Missense_Mutation_p.S196L	NM_013444	NP_038472	Q9UHD9	UBQL2_HUMAN	Homo sapiens ubiquilin 2 (UBQLN2), mRNA.	196						cytoplasm|nucleus|plasma membrane	binding			breast(2)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)	21						AGCATGCTTTCGAATCCCGAT	0.473000														44			35		0	0	1	0	0
DTX3L	151636	broad.mit.edu	37	3	122287567	122287567	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:122287567C>T	uc003efk.3	+	2	720	c.631C>T	c.(631-633)Ctc>Ttc	p.L211F	DTX3L_uc010hrj.3_Intron|DTX3L_uc021xdb.1_Missense_Mutation_p.L47F	NM_138287	NP_612144	Q8TDB6	DTX3L_HUMAN	Homo sapiens deltex 3-like (Drosophila) (DTX3L), mRNA.	211					histone monoubiquitination|response to DNA damage stimulus	cytoplasm|nucleus	histone binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0459)		GAGGAAGCCACTCAGTCAGCA	0.423000														28			22		0	0	1	0	0
FHDC1	85462	broad.mit.edu	37	4	153896906	153896906	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:153896906C>A	uc003inf.2	+	10	2538	c.2463C>A	c.(2461-2463)tcC>tcA	p.S821S		NM_033393	NP_203751	Q9C0D6	FHDC1_HUMAN	Homo sapiens FH2 domain containing 1 (FHDC1), mRNA.	821					actin cytoskeleton organization		actin binding		ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					GCCAAGTCTCCTCCAACCCTA	0.662000														87			7		0.000274275	0.000294507	1	1	0
UBE3D	90025	broad.mit.edu	37	6	83667135	83667135	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:83667135G>T	uc003pjp.2	-	8	1153	c.1045C>A	c.(1045-1047)Cac>Aac	p.H349N	UBE3D_uc011dyx.1_Non-coding_Transcript	NM_198920	NP_944602	Q7Z6J8	UB2CB_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2C binding protein (UBE2CBP), mRNA.	349						cytoplasm	ligase activity										GTTAGCGGGTGGACGCTGATG	0.428000														45			6		8.12818e-05	8.84769e-05	1	1	0
PPYR1	5540	broad.mit.edu	37	10	47087293	47087293	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:47087293C>A	uc001jee.3	+	2	929	c.510C>A	c.(508-510)ctC>ctA	p.L170L	ANXA8L1_uc001jed.4_Intron|PPYR1_uc009xna.3_Silent_p.L170L|PPYR1_uc021ppu.1_Silent_p.L170L	NM_005972	NP_005963	P50391	NPY4R_HUMAN	Homo sapiens pancreatic polypeptide receptor 1 (PPYR1), mRNA.	170					blood circulation|digestion|feeding behavior	integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						CCTGTGTCCTCTCCCTGCCCT	0.562000														99			6		3.59834e-05	3.95114e-05	1	1	0
CHEK1	1111	broad.mit.edu	37	11	125497521	125497521	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:125497521A>G	uc009zbo.3	+	2	982	c.85A>G	c.(85-87)Aga>Gga	p.R29G	CHEK1_uc010sbi.2_Missense_Mutation_p.R29G|CHEK1_uc010sbh.2_Intron|CHEK1_uc001qcf.4_Missense_Mutation_p.R29G|CHEK1_uc009zbp.3_Missense_Mutation_p.R29G|CHEK1_uc001qcg.4_Missense_Mutation_p.R29G	NM_001114122	NP_001107594	O14757	CHK1_HUMAN	Homo sapiens checkpoint kinase 1 (CHEK1), transcript variant 1, mRNA.	29	Protein kinase.				DNA repair|DNA replication|cellular response to mechanical stimulus|gamete generation|negative regulation of cell proliferation|reciprocal meiotic recombination|regulation of cyclin-dependent protein kinase activity|replicative senescence	condensed nuclear chromosome|microtubule organizing center|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(3)|endometrium(3)|large_intestine(2)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	26	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0748)		TGCTGTGAATAGAGTAACTGA	0.338000								Other conserved DNA damage response genes						48			6		0	0	1	0	0
DUOX2	50506	broad.mit.edu	37	15	45397995	45397995	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:45397995C>T	uc001zun.3	-	17	2383	c.2180G>A	c.(2179-2181)gGc>gAc	p.G727D	DUOX2_uc010bea.3_Missense_Mutation_p.G727D	NM_014080	NP_054799	Q9NRD8	DUOX2_HUMAN	Homo sapiens dual oxidase 2 (DUOX2), mRNA.	727					cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	NAD(P)H oxidase activity|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		CACAAAGGCGCCCCGTTCCTC	0.597000														38			26		0	0	1	0	0
PABPC5	140886	broad.mit.edu	37	X	90691273	90691273	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:90691273G>T	uc022bzs.1	+	0	697	c.697G>T	c.(697-699)Gat>Tat	p.D233Y	PABPC5_uc004efg.3_Missense_Mutation_p.D233Y	NM_080832	NP_543022	Q96DU9	PABP5_HUMAN	Homo sapiens poly(A) binding protein, cytoplasmic 5 (PABPC5), mRNA.	233	RRM 3.					cytoplasm	RNA binding|nucleotide binding			central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						AGTAATAAGAGATGCCAGTGG	0.418000														44			20		4.96729e-08	5.78267e-08	1	1	0
C17orf53	78995	broad.mit.edu	37	17	42225804	42225804	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:42225804G>T	uc002ifi.2	+	2	870	c.633G>T	c.(631-633)aaG>aaT	p.K211N	C17orf53_uc010czq.2_Missense_Mutation_p.K211N|C17orf53_uc002ifj.2_Missense_Mutation_p.K211N|C17orf53_uc002ifk.1_Non-coding_Transcript	NM_024032	NP_076937	Q8N3J3	CQ053_HUMAN	Homo sapiens chromosome 17 open reading frame 53 (C17orf53), transcript variant 1, mRNA.	211										NS(1)|breast(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	22		Breast(137;0.0364)|Prostate(33;0.0376)		BRCA - Breast invasive adenocarcinoma(366;0.114)		CTTGCCAGAAGGGGCCTGTGC	0.562000														110			9		7.48243e-07	8.52591e-07	1	1	0
SPTBN1	6711	broad.mit.edu	37	2	54874343	54874343	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:54874343G>A	uc002rxu.3	+	23	5191	c.4942G>A	c.(4942-4944)Gtg>Atg	p.V1648M	SPTBN1_uc002rxx.3_Missense_Mutation_p.V1635M	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 1 (SPTBN1), transcript variant 1, mRNA.	1648	Interaction with ANK2.				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton	p.T1647T(1)		NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			TGCAGAGACCGTGCATCAGCT	0.547000														76			12		0	0	1	0	0
PRDM15	63977	broad.mit.edu	37	21	43242388	43242388	+	Silent	SNP	G	A	A	rs139162933	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:43242388G>A	uc002yzq.1	-	21	2976	c.2865C>T	c.(2863-2865)atC>atT	p.I955I	PRDM15_uc002yzo.3_Silent_p.I626I|PRDM15_uc002yzp.3_Silent_p.I646I|PRDM15_uc002yzr.1_Silent_p.I646I	NM_022115	NP_071398	P57071	PRD15_HUMAN	Homo sapiens PR domain containing 15 (PRDM15), transcript variant 1, mRNA.	955					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						CCATCAACGCGATGTCCTGGA	0.527000														55			23		0	0	1	0	0
RAPGEF2	9693	broad.mit.edu	37	4	160252938	160252938	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:160252938G>T	uc003iqg.4	+	8	1559	c.1249G>T	c.(1249-1251)Gat>Tat	p.D417Y		NM_014247	NP_055062	Q9Y4G8	RPGF2_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 2 (RAPGEF2), mRNA.	417	PDZ.				MAPKKK cascade|cAMP-mediated signaling|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|calcium ion binding|diacylglycerol binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		TGACAGTGTAGATTCAGGTAG	0.413000														124			17		6.49762e-13	8.04122e-13	1	1	0
ANK3	288	broad.mit.edu	37	10	61828939	61828939	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:61828939G>T	uc001jky.3	-	36	12038	c.11700C>A	c.(11698-11700)gcC>gcA	p.A3900A	ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	3900					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						AAGTAGTAAGGGCTTTGGTTT	0.393000														218			25		2.39556e-15	3.01546e-15	1	1	0
FGD5	152273	broad.mit.edu	37	3	14862981	14862981	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:14862981G>A	uc003bzc.3	+	0	2513	c.2403G>A	c.(2401-2403)acG>acA	p.T801T	FGD5_uc011avk.2_Silent_p.T801T	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 5 (FGD5), mRNA.	801					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	Golgi apparatus|cytoskeleton|lamellipodium|ruffle	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						GCGCGTTCACGAAGCTGTTTG	0.522000														78			43		0	0	1	0	0
MAVS	57506	broad.mit.edu	37	20	3846354	3846354	+	Missense_Mutation	SNP	G	A	A	rs143089997		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:3846354G>A	uc002wjw.4	+	6	1355	c.1183G>A	c.(1183-1185)Gcc>Acc	p.A395T	MAVS_uc002wjx.4_Missense_Mutation_p.A254T|MAVS_uc002wjy.4_Missense_Mutation_p.A93T	NM_020746	NP_001193420	Q7Z434	MAVS_HUMAN	Homo sapiens mitochondrial antiviral signaling protein (MAVS), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	395					activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of IP-10 production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus	integral to membrane|mitochondrial outer membrane	CARD domain binding|protein kinase binding|signal transducer activity			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						TCCAACACCCGCCGGCGCCAC	0.637000														3			6		0	0	1	0	0
EGF	1950	broad.mit.edu	37	4	110920897	110920897	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:110920897G>A	uc003hzy.4	+	20	3520	c.3068G>A	c.(3067-3069)cGc>cAc	p.R1023H	EGF_uc011cfu.2_Missense_Mutation_p.R981H|EGF_uc011cfv.2_Missense_Mutation_p.R982H|EGF_uc010imk.3_Missense_Mutation_p.R171H	NM_001963	NP_001954	P01133	EGF_HUMAN	Homo sapiens epidermal growth factor (EGF), transcript variant 1, mRNA.	1023					DNA replication|angiogenesis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of MAP kinase activity|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	TGGGAACTGCGCCACGCTGGC	0.597000														109			8		0	0	1	0	0
CUL4B	8450	broad.mit.edu	37	X	119672534	119672534	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:119672534C>T	uc004esw.3	-	14	2324	c.1887G>A	c.(1885-1887)atG>atA	p.M629I	CUL4B_uc010nqq.3_Missense_Mutation_p.M328I|CUL4B_uc004esv.3_Missense_Mutation_p.M611I	NM_003588	NP_003579	Q13620	CUL4B_HUMAN	Homo sapiens cullin 4B (CUL4B), transcript variant 1, mRNA.	629					DNA repair|cell cycle|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						GTTTGGACAGCATTGATTTTT	0.378000														130			12		0	0	1	0	0
LRFN1	57622	broad.mit.edu	37	19	39805603	39805603	+	Missense_Mutation	SNP	A	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:39805603A>T	uc002okw.2	-	0	374	c.374T>A	c.(373-375)cTg>cAg	p.L125Q		NM_020862	NP_065913	Q9P244	LRFN1_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 1 (LRFN1), mRNA.	125						cell junction|integral to membrane|postsynaptic density|postsynaptic membrane				central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			CACCTCCGCCAGGCGGTTGCT	0.701000														6			4		0	0	1	0	0
ZNF502	91392	broad.mit.edu	37	3	44763330	44763330	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:44763330C>T	uc011baa.2	+	3	1276	c.1021C>T	c.(1021-1023)Cat>Tat	p.H341Y	ZNF502_uc003cns.3_Missense_Mutation_p.H341Y|ZNF502_uc011bab.2_Missense_Mutation_p.H341Y|ZNF502_uc003cnt.3_Missense_Mutation_p.H341Y	NM_001134440	NP_149987	Q8TBZ5	ZN502_HUMAN	Homo sapiens zinc finger protein 502 (ZNF502), transcript variant 2, mRNA.	341					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(4)|large_intestine(8)|lung(4)|prostate(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589)		CCTCTCTCAGCATCAGAGAAT	0.403000														56			20		0	0	1	0	0
SMC6	79677	broad.mit.edu	37	2	17888593	17888593	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:17888593A>G	uc002rco.3	-	17	2195	c.1899T>C	c.(1897-1899)tgT>tgC	p.C633C	SMC6_uc010exo.3_Silent_p.C633C|SMC6_uc002rcn.3_Silent_p.C633C|SMC6_uc002rcp.1_Silent_p.C659C|SMC6_uc002rcq.2_Silent_p.C659C	NM_001142286	NP_078900	Q96SB8	SMC6_HUMAN	Homo sapiens structural maintenance of chromosomes 6 (SMC6), transcript variant 1, mRNA.	633	Flexible hinge.				DNA recombination|DNA repair	chromosome|nucleus	ATP binding	p.C633Y(1)		NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					AAGCTTCTCTACAATTTTTGG	0.343000														34			28		0	0	1	0	0
MTMR10	54893	broad.mit.edu	37	15	31239394	31239394	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:31239394C>T	uc001zfh.1	-	13	1585	c.1487G>A	c.(1486-1488)cGg>cAg	p.R496Q	MTMR10_uc010ubk.1_5'UTR|MTMR10_uc001zfg.1_Missense_Mutation_p.R77Q|MTMR10_uc010azx.1_Missense_Mutation_p.R248Q|MTMR10_uc001zfi.1_Missense_Mutation_p.R248Q|MTMR10_uc001zfj.3_Missense_Mutation_p.R414Q	NM_017762	NP_060232	Q9NXD2	MTMRA_HUMAN	Homo sapiens myotubularin related protein 10 (MTMR10), mRNA.	496	Myotubularin phosphatase.						phosphatase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	9		all_lung(180;2.81e-11)		all cancers(64;7.26e-15)|Epithelial(43;7.2e-11)|GBM - Glioblastoma multiforme(186;0.000158)|BRCA - Breast invasive adenocarcinoma(123;0.00426)|Lung(196;0.174)		CAGTGAGATCCGGGTGCTGTC	0.502000														56			39		0	0	1	0	0
SFR1	119392	broad.mit.edu	37	10	105883608	105883608	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:105883608C>T	uc001kxv.3	+	1	1035	c.458C>T	c.(457-459)aCa>aTa	p.T153I	SFR1_uc001kxs.3_Missense_Mutation_p.T78I|SFR1_uc001kxt.3_Missense_Mutation_p.T45I|SFR1_uc001kxu.3_Missense_Mutation_p.T91I	NM_145247	NP_660290	Q86XK3	SFR1_HUMAN	Homo sapiens SWI5-dependent recombination repair 1 (SFR1), transcript variant 2, mRNA.	91					double-strand break repair via homologous recombination	Swi5-Sfr1 complex	protein binding										GCATCTTCCACAGAGGAAAAC	0.308000														47			36		0	0	1	0	0
SERPINB12	89777	broad.mit.edu	37	18	61225673	61225673	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:61225673G>T	uc010xeo.2	+	1	257	c.257G>T	c.(256-258)aGc>aTc	p.S86I	SERPINB12_uc010xen.2_Intron	NM_080474	NP_536722	Q96P63	SPB12_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 12 (SERPINB12), mRNA.	81					negative regulation of protein catabolic process|regulation of proteolysis	cytoplasm	enzyme binding|serine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						CTGGCTGACAGCTCTCTGGAG	0.443000														33			23		1.9806e-07	2.28575e-07	1	1	0
MRVI1	10335	broad.mit.edu	37	11	10615119	10615119	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:10615119C>T	uc010rcc.1	-	16	2481	c.2095G>A	c.(2095-2097)Gct>Act	p.A699T	MRVI1-AS1_uc001miu.3_Intron|MRVI1-AS1_uc021qds.1_Intron|MRVI1_uc010rcb.1_Missense_Mutation_p.A691T|MRVI1_uc001miw.2_Missense_Mutation_p.A690T|MRVI1_uc001mix.3_Missense_Mutation_p.A384T|MRVI1_uc001miz.2_Missense_Mutation_p.A608T|MRVI1_uc010rcd.1_Missense_Mutation_p.A493T|MRVI1_uc009ygd.1_Missense_Mutation_p.A384T|MRVI1_uc010rce.1_Non-coding_Transcript	NM_130385	NP_569056	Q9Y6F6	MRVI1_HUMAN	Homo sapiens murine retrovirus integration site 1 homolog (MRVI1), transcript variant 2, mRNA.	672					platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		GGAACCACAGCAACGCTGACC	0.517000														31			23		0	0	1	0	0
MPZ	4359	broad.mit.edu	37	1	161275672	161275672	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:161275672C>A	uc001gaf.4	-	5	808	c.741G>T	c.(739-741)aaG>aaT	p.K247N		NM_000530	NP_000521	P25189	MYP0_HUMAN	Homo sapiens myelin protein zero (MPZ), mRNA.	247					synaptic transmission	integral to plasma membrane	structural molecule activity			central_nervous_system(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	10	all_cancers(52;6.96e-17)|all_hematologic(112;0.093)	Breast(1374;0.181)	BRCA - Breast invasive adenocarcinoma(70;0.00376)			ACCGCTATTTCTTATCCTTGC	0.592000														39			5		0.0293803	0.0299714	1	1	0
SCUBE2	57758	broad.mit.edu	37	11	9077443	9077443	+	Nonsense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:9077443G>T	uc001mhi.2	-	9	1179	c.1104C>A	c.(1102-1104)tgC>tgA	p.C368*	SCUBE2_uc001mhj.2_Nonsense_Mutation_p.C368*	NM_020974	NP_066025	Q9NQ36	SCUB2_HUMAN	Homo sapiens signal peptide, CUB domain, EGF-like 2 (SCUBE2), transcript variant 1, mRNA.	368	EGF-like 8; calcium-binding (Potential).					extracellular region	calcium ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		TATCCAAAGAGCACTCATCCA	0.502000														132			23		1.10513e-12	1.3661e-12	1	1	0
CLDN2	9075	broad.mit.edu	37	X	106171575	106171575	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:106171575C>T	uc022ccd.1	+	0	117	c.117C>T	c.(115-117)agC>agT	p.S39S	MORC4_uc004emp.4_Intron|CLDN2_uc004emq.1_Silent_p.S39S|CLDN2_uc022ccc.1_Silent_p.S39S|CLDN2_uc004emt.2_Silent_p.S39S	NM_020384	NP_065117	P57739	CLD2_HUMAN	Homo sapiens claudin 2 (CLDN2), transcript variant 1, mRNA.	39					calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						TCGGTGCCAGCATTGTGACAG	0.552000														60			38		0	0	1	0	0
ZBTB49	166793	broad.mit.edu	37	4	4303755	4303755	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:4303755T>C	uc003ghu.3	+	2	367	c.192T>C	c.(190-192)gtT>gtC	p.V64V	ZBTB49_uc003ghv.3_Intron|ZBTB49_uc010icy.3_Non-coding_Transcript|ZBTB49_uc010icz.3_5'Flank	NM_145291	NP_660334	Q6ZSB9	ZBT49_HUMAN	Homo sapiens zinc finger and BTB domain containing 49 (ZBTB49), mRNA.	64	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	28						AGAATGATGTTTTTCACTTGG	0.363000														66			7		0	0	1	0	0
C20orf166-AS1	253868	broad.mit.edu	37	20	61143823	61143823	+	RNA	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:61143823G>T	uc021wfy.1	-	0		c.60C>A			C20orf166-AS1_uc002ycy.3_Non-coding_Transcript|C20orf166-AS1_uc002ycz.2_Non-coding_Transcript					Homo sapiens chromosome 20 open reading frame 200, mRNA (cDNA clone MGC:120891 IMAGE:7939701), complete cds.																		TCGTGCGCGAGGTGCCCTGTG	0.672000														96			9		1.36491e-13	1.70018e-13	1	1	0
ZNF207	7756	broad.mit.edu	37	17	30694947	30694947	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:30694947G>T	uc010csz.3	+	10	1434	c.1087G>T	c.(1087-1089)Gcg>Tcg	p.A363S	ZNF207_uc002hhj.4_Missense_Mutation_p.A360S|ZNF207_uc002hhh.4_Missense_Mutation_p.A344S|ZNF207_uc002hhi.4_Missense_Mutation_p.A329S|ZNF207_uc002hhk.1_Missense_Mutation_p.A360S|ZNF207_uc002hhl.1_Non-coding_Transcript			O43670	ZN207_HUMAN	Homo sapiens zinc finger protein 207 (ZNF207), transcript variant 3, mRNA.	344						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|lung(3)|urinary_tract(2)	10		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			AGCTAAACCAGCGGCTTCAAT	0.428000														61			6		0.00116845	0.00123466	1	1	0
LCT	3938	broad.mit.edu	37	2	136555613	136555613	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:136555613G>T	uc002tuu.1	-	12	4973	c.4962C>A	c.(4960-4962)ggC>ggA	p.G1654G		NM_002299	NP_002290	P09848	LPH_HUMAN	Homo sapiens lactase (LCT), mRNA.	1654	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		ACTTGTTGAGGCCTGCAGCCA	0.562000											OREG0014998	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		32			20		5.26018e-13	6.52578e-13	1	1	0
FUT8	2530	broad.mit.edu	37	14	66028381	66028381	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:66028381G>A	uc001xin.3	+	2	1827	c.100G>A	c.(100-102)Gac>Aac	p.D34N	FUT8_uc001xio.3_Missense_Mutation_p.D34N|FUT8_uc010tsp.2_Intron|FUT8_uc001xir.4_Non-coding_Transcript|FUT8_uc001xip.3_Missense_Mutation_p.D34N|FUT8_uc001xiq.3_Intron	NM_178155	NP_004471	Q9BYC5	FUT8_HUMAN	Homo sapiens fucosyltransferase 8 (alpha (1,6) fucosyltransferase) (FUT8), transcript variant 1, mRNA.	34					L-fucose catabolic process|N-glycan processing|in utero embryonic development|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein glycosylation in Golgi	Golgi cisterna membrane|integral to membrane	SH3 domain binding|glycoprotein 6-alpha-L-fucosyltransferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)		ACGAGATAATGACCATCCTGA	0.468000														62			57		0	0	1	0	0
OR6C3	254786	broad.mit.edu	37	12	55725688	55725688	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:55725688C>A	uc010spj.2	+	0	204	c.204C>A	c.(202-204)atC>atA	p.I68I		NM_054104	NP_473445	Q9NZP0	OR6C3_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 3 (OR6C3), mRNA.	68					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						TCTTAGAAATCTCATTTACAA	0.418000														81			38		1.90571e-15	2.4006e-15	1	1	0
PPRC1	23082	broad.mit.edu	37	10	103899528	103899528	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:103899528G>T	uc001kum.3	+	4	1302	c.1263G>T	c.(1261-1263)aaG>aaT	p.K421N	PPRC1_uc001kun.3_Missense_Mutation_p.K301N|PPRC1_uc010qqj.2_Missense_Mutation_p.K421N|PPRC1_uc009xxa.3_Non-coding_Transcript	NM_015062	NP_055877	Q5VV67	PPRC1_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator-related 1 (PPRC1), mRNA.	421					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		CAGAGGAGAAGCTGGACTCAG	0.572000														88			12		1.08611e-07	1.25606e-07	1	1	0
BAZ2A	11176	broad.mit.edu	37	12	56994235	56994235	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56994235A>C	uc001slq.1	-	23	4842	c.4648T>G	c.(4648-4650)Ttg>Gtg	p.L1550V	BAZ2A_uc001slp.1_Missense_Mutation_p.L1548V|BAZ2A_uc001slo.1_Missense_Mutation_p.L356V|BAZ2A_uc009zov.1_Missense_Mutation_p.L516V|BAZ2A_uc009zow.1_Missense_Mutation_p.L1518V	NM_013449	NP_038477	Q9UIF9	BAZ2A_HUMAN	Homo sapiens bromodomain adjacent to zinc finger domain, 2A (BAZ2A), mRNA.	1550					DNA methylation|chromatin silencing at rDNA|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|RNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|zinc ion binding	p.D1550V(1)		breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						CAGTAGGCCAAGTCTTCACGG	0.517000														36			24		0	0	1	0	0
LOC401010	401010	broad.mit.edu	37	2	132201583	132201583	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:132201583C>T	uc002tst.2	-	0	885	c.419G>A	c.(418-420)cGt>cAt	p.R140H						Homo sapiens nucleolar complex associated 2 homolog (S. cerevisiae) pseudogene (LOC401010), non-coding RNA.																		AAGCAGCATACGGCACTGCTT	0.602000														26			9		0	0	1	0	0
APOBEC1	339	broad.mit.edu	37	12	7805417	7805417	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:7805417G>T	uc001qtb.3	-	2	93	c.59C>A	c.(58-60)cCc>cAc	p.P20H	APOBEC1_uc001qtc.3_5'UTR	NM_001644	NP_001635	P41238	ABEC1_HUMAN	Homo sapiens apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1 (APOBEC1), mRNA.	20					DNA demethylation|cytidine to uridine editing|lipid metabolic process|mRNA modification|mRNA processing|negative regulation of methylation-dependent chromatin silencing	nucleoplasm	RNA binding|cytidine deaminase activity|zinc ion binding			kidney(2)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						AAACTCCCAGGGTTCGATTCT	0.463000														41			5		0.00198382	0.00208369	1	1	0
ANKRD11	29123	broad.mit.edu	37	16	89347194	89347194	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:89347194G>A	uc002fmx.1	-	8	6217	c.5756C>T	c.(5755-5757)gCg>gTg	p.A1919V	ANKRD11_uc002fmy.1_Missense_Mutation_p.A1919V|ANKRD11_uc002fnc.1_Missense_Mutation_p.A1919V|ANKRD11_uc002fna.1_5'Flank|ANKRD11_uc002fnb.1_Missense_Mutation_p.A1876V	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	Homo sapiens ankyrin repeat domain 11 (ANKRD11), transcript variant 2, mRNA.	1919	Pro-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		GGCGGCCGTCGCCTGCTGGTC	0.677000														31			15		0	0	1	0	0
C9orf172	389813	broad.mit.edu	37	9	139741114	139741114	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:139741114G>A	uc011meh.2	+	0	2248	c.2248G>A	c.(2248-2250)Ggc>Agc	p.G750S	PHPT1_uc011mei.2_5'Flank|PHPT1_uc004cjq.4_5'Flank	NM_001080482	NP_001073951	C9J069	CI172_HUMAN	Homo sapiens chromosome 9 open reading frame 172 (C9orf172), mRNA.	750										endometrium(2)|large_intestine(1)|lung(6)	9						GCGCGGCCGCGGCGTGCTCTT	0.687000														8			6		0	0	1	0	0
IGF2R	3482	broad.mit.edu	37	6	160496974	160496974	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:160496974G>A	uc003qta.3	+	35	5410	c.5262G>A	c.(5260-5262)aaG>aaA	p.K1754K		NM_000876	NP_000867	P11717	MPRI_HUMAN	Homo sapiens insulin-like growth factor 2 receptor (IGF2R), mRNA.	1754					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		TAGCGGACAAGCATTTCAACT	0.463000														85			10		0	0	1	0	0
LCP2	3937	broad.mit.edu	37	5	169689860	169689860	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:169689860C>T	uc003man.1	-	11	1011	c.804G>A	c.(802-804)tcG>tcA	p.S268S	LCP2_uc011des.1_Silent_p.S63S|LCP2_uc011det.1_Silent_p.S97S|LCP2_uc010jjo.1_Silent_p.S75S	NM_005565	NP_005556	Q13094	LCP2_HUMAN	Homo sapiens lymphocyte cytosolic protein 2 (SH2 domain containing leukocyte protein of 76kDa) (LCP2), mRNA.	268					T cell receptor signaling pathway|immune response|platelet activation|transmembrane receptor protein tyrosine kinase signaling pathway	cytosol	protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	23	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.247)		CCGCTGGAATCGAGGGCTGCA	0.423000														41			22		0	0	1	0	0
ZNF322	79692	broad.mit.edu	37	9	99961571	99961571	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:99961571T>C	uc004axd.2	-	0	282	c.223A>G	c.(223-225)Atg>Gtg	p.M75V	BC070371_uc004axb.2_5'Flank|BC070371_uc004axc.1_5'Flank|AK309476_uc010msl.1_Intron	NM_024639	NP_078915	Q6U7Q0	Z322A_HUMAN	Homo sapiens zinc finger protein 322 (ZNF322), transcript variant 2, mRNA.	75					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding										TTCTCACACATATCACATTTA	0.378000														41			81		0	0	1	0	0
KIAA1045	23349	broad.mit.edu	37	9	34977131	34977131	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:34977131G>A	uc003zvq.3	+	5	1079	c.901G>A	c.(901-903)Gcc>Acc	p.A301T	KIAA1045_uc003zvr.3_Missense_Mutation_p.A301T	NM_015297	NP_056112	Q9UPV7	K1045_HUMAN	Homo sapiens KIAA1045 (KIAA1045), mRNA.	301							calcium ion binding	p.A300A(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(32;0.00575)			AGCCCGAGCCGCCTTCCTGGC	0.582000														38			22		0	0	1	0	0
OR1L3	26735	broad.mit.edu	37	9	125437739	125437739	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:125437739G>T	uc011lzb.2	+	0	331	c.331G>T	c.(331-333)Gat>Tat	p.D111Y		NM_001005234	NP_001005234	Q8NH93	OR1L3_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily L, member 3 (OR1L3), mRNA.	111					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	16						TGGAAACATAGATAGTTATCT	0.433000														110			52		2.24059e-37	2.9739e-37	1	1	0
PRRC2A	7916	broad.mit.edu	37	6	31596972	31596972	+	Missense_Mutation	SNP	C	T	T	rs116181516	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31596972C>T	uc003nvb.4	+	12	2066	c.1817C>T	c.(1816-1818)cCt>cTt	p.P606L	PRRC2A_uc011dnv.1_Intron|PRRC2A_uc003nvc.4_Missense_Mutation_p.P606L	NM_080686	NP_542417	P48634	PRC2A_HUMAN	Homo sapiens proline-rich coiled-coil 2A (PRRC2A), transcript variant 1, mRNA.	606	4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						GAAGAGGTTCCTCCTCCTACC	0.537000														118			17		0	0	1	0	0
TNIP3	79931	broad.mit.edu	37	4	122068271	122068271	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:122068271T>C	uc021xrj.1	-	9	978	c.899A>G	c.(898-900)cAa>cGa	p.Q300R	TNIP3_uc010ing.3_Missense_Mutation_p.Q223R|TNIP3_uc011cgj.2_Missense_Mutation_p.Q293R	NM_001244764	NP_001231693	Q96KP6	TNIP3_HUMAN	Homo sapiens TNFAIP3 interacting protein 3 (TNIP3), transcript variant 3, mRNA.	223										NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2)	24						CTCTTTCTCTTGATTAAGTCT	0.383000														129			12		0	0	1	0	0
ATP2B2	491	broad.mit.edu	37	3	10420081	10420081	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:10420081G>A	uc003bvt.3	-	9	1495	c.1056C>T	c.(1054-1056)gaC>gaT	p.D352D	ATP2B2_uc003bvv.3_Silent_p.D307D|ATP2B2_uc003bvw.3_Silent_p.D307D|ATP2B2_uc010hdo.3_Silent_p.D57D	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 2 (ATP2B2), transcript variant 1, mRNA.	352					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|PDZ domain binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein C-terminus binding	p.D307D(1)|p.D352D(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						CGGCTGCCCCGTCCTGTTGTT	0.622000														44			17		0	0	1	0	0
NT5C	30833	broad.mit.edu	37	17	73126698	73126698	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:73126698G>T	uc002jmx.3	-	4	579	c.491C>A	c.(490-492)aCc>aAc	p.T164N	NT5C_uc002jmy.3_Non-coding_Transcript|NT5C_uc021ucw.1_Missense_Mutation_p.T124N	NM_014595	NP_055410	Q8TCD5	NT5C_HUMAN	Homo sapiens 5', 3'-nucleotidase, cytosolic (NT5C), transcript variant 1, mRNA.	164					purine base metabolic process|purine nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine deoxyribonucleotide catabolic process|pyrimidine nucleoside catabolic process	cytosol|nucleus	5'-nucleotidase activity|metal ion binding|pyrimidine nucleotide binding					all_lung(278;0.14)|Lung NSC(278;0.168)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)			GTGGCAGCAGGTGAACAAGAT	0.577000											OREG0024728	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		43			19		1.01871e-10	1.23424e-10	1	1	0
KLHL13	90293	broad.mit.edu	37	X	117033091	117033091	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:117033091G>A	uc011mtp.2	-	7	1890	c.1757C>T	c.(1756-1758)gCt>gTt	p.A586V	KLHL13_uc004eqk.3_Missense_Mutation_p.A532V|KLHL13_uc004eql.3_Missense_Mutation_p.A583V|KLHL13_uc011mtn.2_Missense_Mutation_p.A423V|KLHL13_uc011mto.2_Missense_Mutation_p.A577V|KLHL13_uc011mtq.2_Missense_Mutation_p.A567V|KLHL13_uc004eqm.3_Missense_Mutation_p.A541V|KLHL13_uc022cde.1_Missense_Mutation_p.A567V	NM_001168299	NP_001161775	Q9P2N7	KLH13_HUMAN	Homo sapiens kelch-like 13 (Drosophila) (KLHL13), transcript variant 2, mRNA.	583					cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						TTCGAAGACAGCGACCCCAAC	0.418000														99			75		0	0	1	0	0
APAF1	317	broad.mit.edu	37	12	99121056	99121056	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:99121056G>T	uc001tfz.3	+	25	4139	c.3562G>T	c.(3562-3564)Gat>Tat	p.D1188Y	APAF1_uc001tfy.3_Missense_Mutation_p.D1177Y|APAF1_uc001tga.3_Missense_Mutation_p.D1134Y|APAF1_uc001tgb.3_Missense_Mutation_p.D1145Y|APAF1_uc001tgc.3_Intron|APAF1_uc009zto.3_Missense_Mutation_p.D512Y	NM_181861	NP_863651	O14727	APAF_HUMAN	Homo sapiens apoptotic peptidase activating factor 1 (APAF1), transcript variant 3, mRNA.	1188					activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development	Golgi apparatus|cytosol|nucleus	ATP binding|caspase activator activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	CTTTTCTCCAGATGGCAAAAT	0.428000														87			8		0.000157383	0.000170012	1	1	0
DZIP1L	199221	broad.mit.edu	37	3	137813726	137813726	+	Missense_Mutation	SNP	G	A	A	rs148594666	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:137813726G>A	uc003erq.3	-	3	1049	c.686C>T	c.(685-687)gCg>gTg	p.A229V	DZIP1L_uc003err.1_Missense_Mutation_p.A229V	NM_173543	NP_775814	Q8IYY4	DZI1L_HUMAN	Homo sapiens DAZ interacting protein 1-like (DZIP1L), transcript variant 1, mRNA.	229						intracellular	zinc ion binding	p.A229V(2)		breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	35						CTGCCTCTCCGCCTCCCTCTG	0.567000														45			31		0	0	1	0	0
H3F3B	3021	broad.mit.edu	37	1	226259158	226259158	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:226259158G>A	uc001hpw.3	+	3	517	c.389G>A	c.(388-390)cGc>cAc	p.R130H	H3F3B_uc021pjv.1_Missense_Mutation_p.R130H	NM_005324	NP_005315	P84243	H33_HUMAN	Homo sapiens H3 histone, family 3B (H3.3B) (H3F3B), mRNA.	130					blood coagulation|nucleosome assembly	nucleoplasm|nucleosome	DNA binding			large_intestine(1)|lung(4)|ovary(2)|skin(1)	8	all_cancers(13;1.5e-07)		all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			CTAGCACGCCGCATACGTGGA	0.403000														11			8		0	0	1	0	0
LETMD1	25875	broad.mit.edu	37	12	51447581	51447581	+	Silent	SNP	G	A	A	rs144819671		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:51447581G>A	uc009zlw.3	+	3	508	c.450G>A	c.(448-450)aaG>aaA	p.K150K	LETMD1_uc010smz.2_Intron|LETMD1_uc010sna.2_Intron|LETMD1_uc001rxm.3_Silent_p.K137K|LETMD1_uc001rxn.3_5'UTR|LETMD1_uc001rxo.3_Intron|LETMD1_uc001rxr.3_Intron|LETMD1_uc001rxl.3_Silent_p.K81K|LETMD1_uc001rxt.3_Intron	NM_001243689	NP_001230618	Q6P1Q0	LTMD1_HUMAN	Homo sapiens LETM1 domain containing 1 (LETMD1), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	137	LETM1.					integral to membrane|mitochondrial outer membrane	protein binding			central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(3)	16						ACGTCACCAAGTGTCTTTTCC	0.408000														226			18		0	0	1	0	0
APLNR	187	broad.mit.edu	37	11	57003773	57003773	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:57003773G>A	uc001njo.3	-	0	1155	c.706C>T	c.(706-708)Cgc>Tgc	p.R236C	APLNR_uc001njn.4_Non-coding_Transcript	NM_005161	NP_005152	P35414	APJ_HUMAN	Homo sapiens apelin receptor (APLNR), transcript variant 1, mRNA.	236						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						CCCTCGATGCGTTCCTTGCGG	0.612000														48			6		0	0	1	0	0
ATP13A2	23400	broad.mit.edu	37	1	17313646	17313646	+	Missense_Mutation	SNP	G	A	A	rs146559160		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:17313646G>A	uc001baa.2	-	25	3168	c.2978C>T	c.(2977-2979)cCg>cTg	p.P993L	ATP13A2_uc001bac.2_Missense_Mutation_p.P949L|ATP13A2_uc001bab.2_Missense_Mutation_p.P988L	NM_022089	NP_071372	Q9NQ11	AT132_HUMAN	Homo sapiens ATPase type 13A2 (ATP13A2), transcript variant 1, mRNA.	993					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		CAGCGCCCCCGGTGGCCGCAC	0.692000														13			11		0	0	1	0	0
CLUAP1	23059	broad.mit.edu	37	16	3558334	3558334	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:3558334G>A	uc002cvk.1	+	3	370	c.265G>A	c.(265-267)Gca>Aca	p.A89T	CLUAP1_uc002cvj.1_Missense_Mutation_p.A89T|CLUAP1_uc002cvm.1_5'Flank	NM_015041	NP_079069	Q96AJ1	CLUA1_HUMAN	Homo sapiens clusterin associated protein 1 (CLUAP1), transcript variant 1, mRNA.	89						nucleus	protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)|urinary_tract(2)	16						GCTTTATCAAGCAGATGGGTA	0.393000														76			27		0	0	1	0	0
NINL	22981	broad.mit.edu	37	20	25434110	25434110	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:25434110C>T	uc002wux.1	-	23	4200	c.4126G>A	c.(4126-4128)Gcc>Acc	p.A1376T	NINL_uc010gdn.1_Missense_Mutation_p.A1027T|NINL_uc002wuw.1_Missense_Mutation_p.A167T	NM_025176	NP_079452	Q9Y2I6	NINL_HUMAN	Homo sapiens ninein-like (NINL), mRNA.	1376					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						GCTGCGGGGGCAATCCTACTG	0.498000														34			34		0	0	1	0	0
DACT1	51339	broad.mit.edu	37	14	59113084	59113084	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:59113084C>A	uc001xdw.3	+	3	1907	c.1743C>A	c.(1741-1743)aaC>aaA	p.N581K	DACT1_uc010trv.2_Missense_Mutation_p.N300K|DACT1_uc001xdx.3_Missense_Mutation_p.N544K|DACT1_uc010trw.2_Missense_Mutation_p.N300K	NM_016651	NP_057735	Q9NYF0	DACT1_HUMAN	Homo sapiens dapper, antagonist of beta-catenin, homolog 1 (Xenopus laevis) (DACT1), transcript variant 1, mRNA.	581					Wnt receptor signaling pathway|multicellular organismal development	cytoplasm|nucleus				endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						TCGTGAAGAACTCCAGCCTGA	0.667000														18			7		0.0381472	0.0388409	1	1	0
CEP97	79598	broad.mit.edu	37	3	101474341	101474341	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:101474341C>T	uc003dvk.1	+	6	823	c.796C>T	c.(796-798)Ctt>Ttt	p.L266F	CEP97_uc010hpm.1_Missense_Mutation_p.L232F|CEP97_uc011bhf.1_Missense_Mutation_p.L266F|CEP97_uc003dvl.1_5'UTR|CEP97_uc003dvm.1_Missense_Mutation_p.L104F	NM_024548	NP_078824	Q8IW35	CEP97_HUMAN	Homo sapiens centrosomal protein 97kDa (CEP97), mRNA.	266						centrosome|nucleus	protein binding			cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						GCACATCCAGCTTGTCCAATA	0.473000														36			17		0	0	1	0	0
TNN	63923	broad.mit.edu	37	1	175116130	175116130	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:175116130C>T	uc001gkl.1	+	18	3936	c.3823C>T	c.(3823-3825)Cgc>Tgc	p.R1275C		NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	Homo sapiens tenascin N (TNN), mRNA.	1275	Fibrinogen C-terminal.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		p.I1274M(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GTTGAAAATCCGCCCTCATGG	0.527000											OREG0013992	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		47			10		0	0	1	0	0
PLA2G4D	283748	broad.mit.edu	37	15	42371773	42371773	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:42371773G>T	uc001zox.3	-	12	1374	c.1279C>A	c.(1279-1281)Ctg>Atg	p.L427M		NM_178034	NP_828848	Q86XP0	PA24D_HUMAN	Homo sapiens phospholipase A2, group IVD (cytosolic) (PLA2G4D), mRNA.	427	PLA2c.				phospholipid catabolic process	cytoplasmic vesicle membrane|cytosol	metal ion binding|phospholipase A2 activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		AGCGCCCACAGGTCCACAAAG	0.697000														7			5		0.014758	0.0151755	1	1	0
GLI3	2737	broad.mit.edu	37	7	42005518	42005518	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:42005518C>T	uc011kbh.2	-	14	3244	c.3153G>A	c.(3151-3153)cgG>cgA	p.R1051R	GLI3_uc011kbg.2_Silent_p.R992R	NM_000168	NP_000159	P10071	GLI3_HUMAN	Homo sapiens GLI family zinc finger 3 (GLI3), mRNA.	1051					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						CGCCCTCGGGCCGCGTGTAAT	0.657000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly					33			11		0	0	1	0	0
CAMSAP1	157922	broad.mit.edu	37	9	138713121	138713121	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:138713121G>A	uc004cgr.4	-	10	3386	c.3386C>T	c.(3385-3387)aCg>aTg	p.T1129M	CAMSAP1_uc004cgq.4_Missense_Mutation_p.T1019M|CAMSAP1_uc010nbg.3_Missense_Mutation_p.T851M	NM_015447	NP_056262	Q5T5Y3	CAMP1_HUMAN	Homo sapiens calmodulin regulated spectrin-associated protein 1 (CAMSAP1), mRNA.	1129						cytoplasm|microtubule				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		GTGCGGGAGCGTCTCTACACT	0.662000														49			34		0	0	1	0	0
COL9A1	1297	broad.mit.edu	37	6	70984468	70984468	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:70984468G>A	uc003pfg.4	-	10	1142	c.983C>T	c.(982-984)aCa>aTa	p.T328I	COL9A1_uc003pfe.4_5'UTR|COL9A1_uc003pff.4_Missense_Mutation_p.T85I	NM_001851	NP_001842	P20849	CO9A1_HUMAN	Homo sapiens collagen, type IX, alpha 1 (COL9A1), transcript variant 1, mRNA.	328	Triple-helical region (COL3).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding	p.L327F(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						ATCAGGTCCTGTTAATCCCTA	0.358000														19			16		0	0	1	0	0
IL17RD	54756	broad.mit.edu	37	3	57143645	57143645	+	Missense_Mutation	SNP	G	A	A	rs140018512	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:57143645G>A	uc003dil.3	-	4	559	c.470C>T	c.(469-471)aCg>aTg	p.T157M	IL17RD_uc003dik.3_Missense_Mutation_p.T133M|IL17RD_uc010hna.3_Missense_Mutation_p.T13M|IL17RD_uc011bex.1_Missense_Mutation_p.T13M	NM_017563	NP_060033	Q8NFM7	I17RD_HUMAN	Homo sapiens interleukin 17 receptor D (IL17RD), mRNA.	157						Golgi membrane|integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)	16				KIRC - Kidney renal clear cell carcinoma(284;0.0173)|Kidney(284;0.0204)		GAAATAATCCGTTTCAAATTT	0.408000														46			25		0	0	1	0	0
LMF1	64788	broad.mit.edu	37	16	921309	921309	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:921309G>A	uc021tae.1	-	6	934	c.930C>T	c.(928-930)ttC>ttT	p.F310F	LMF1_uc010brg.2_5'Flank|LMF1_uc010uuu.2_Silent_p.F93F|LMF1_uc021tad.1_Silent_p.F141F|LMF1_uc010bri.2_Silent_p.F73F|LMF1_uc002ckk.2_Silent_p.F93F	NM_022773	NP_073610	Q96S06	LMF1_HUMAN	Homo sapiens lipase maturation factor 1 (LMF1), transcript variant 1, mRNA.	310						endoplasmic reticulum membrane|integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	18		Hepatocellular(780;0.00308)				GCCAGTTCAGGAAGCTGAGGT	0.652000														14			3		0	0	1	0	0
INPP4A	3631	broad.mit.edu	37	2	99182579	99182579	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:99182579G>A	uc002syy.3	+	21	2775	c.2382G>A	c.(2380-2382)gtG>gtA	p.V794V	INPP4A_uc010yvj.1_Silent_p.V755V|INPP4A_uc010yvk.2_Silent_p.V755V|INPP4A_uc002syx.3_Silent_p.V789V|INPP4A_uc010fik.3_Silent_p.V123V	NM_001134224	NP_001127696	Q96PE3	INP4A_HUMAN	Homo sapiens inositol polyphosphate-4-phosphatase, type I, 107kDa (INPP4A), transcript variant d, mRNA.	794					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity	p.R793*(1)		breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						TGCTGCGAGTGCAGCCCGTCC	0.667000														4			4		0	0	1	0	0
THG1L	54974	broad.mit.edu	37	5	157161716	157161716	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:157161716G>T	uc003lxd.3	+	2	627	c.501G>T	c.(499-501)caG>caT	p.Q167H	THG1L_uc011ddu.2_Missense_Mutation_p.Q35H	NM_017872	NP_060342	Q9NWX6	THG1_HUMAN	Homo sapiens tRNA-histidine guanylyltransferase 1-like (S. cerevisiae) (THG1L), mRNA.	167					protein homotetramerization|tRNA modification	mitochondrion	GTP binding|metal ion binding|tRNA guanylyltransferase activity			NS(1)|central_nervous_system(2)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)	13	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CCAGCAACCAGACTTTAAAGG	0.478000														54			5		0.000602214	0.000641151	1	1	0
VIT	5212	broad.mit.edu	37	2	37041325	37041325	+	Splice_Site	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:37041325G>T	uc002rpl.3	+	16	2206	c.1904_splice	c.e16-1	p.G635_splice	VIT_uc002rpm.3_Splice_Site_p.G620_splice|VIT_uc010ezv.3_Splice_Site_p.G598_splice|VIT_uc010ezw.3_Splice_Site_p.G599_splice	NM_053276	NP_444506	Q6UXI7	VITRN_HUMAN	Homo sapiens vitrin (VIT), transcript variant 1, mRNA.	620	VWFA 2.					proteinaceous extracellular matrix				autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				TGTCCCCACAGGAGTGATCAC	0.512000														15			20		3.51602e-12	4.32762e-12	1	1	0
FREM2	341640	broad.mit.edu	37	13	39262270	39262270	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:39262270C>T	uc001uwv.3	+	0	1098	c.789C>T	c.(787-789)ggC>ggT	p.G263G		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	Homo sapiens FRAS1 related extracellular matrix protein 2 (FREM2), mRNA.	263					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		AGGAACTAGGCGTGCGCTATC	0.632000														37			29		0	0	1	0	0
MAPKAPK2	9261	broad.mit.edu	37	1	206902780	206902780	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:206902780A>G	uc001hem.2	+	3	734	c.524A>G	c.(523-525)cAg>cGg	p.Q175R	MAPKAPK2_uc001hel.2_Missense_Mutation_p.Q175R	NM_032960	NP_116584	P49137	MAPK2_HUMAN	Homo sapiens mitogen-activated protein kinase-activated protein kinase 2 (MAPKAPK2), transcript variant 2, mRNA.	175	Protein kinase.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Ras protein signal transduction|Toll signaling pathway|activation of MAPK activity|hormone biosynthetic process|innate immune response|leukotriene biosynthetic process|nerve growth factor receptor signaling pathway|prostanoid metabolic process|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	19	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.211)			GAGGCCATCCAGTATCTGCAT	0.522000														223			25		0	0	1	0	0
XDH	7498	broad.mit.edu	37	2	31602786	31602786	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:31602786G>T	uc002rnv.1	-	12	1268	c.1189C>A	c.(1189-1191)Ctg>Atg	p.L397M		NM_000379	NP_000370	P47989	XDH_HUMAN	Homo sapiens xanthine dehydrogenase (XDH), mRNA.	397	FAD-binding PCMH-type.				purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	GGGCTCAGCAGGGTCTTTCTG	0.527000														67			36		8.01111e-26	1.04961e-25	1	1	0
WIPF1	7456	broad.mit.edu	37	2	175431873	175431873	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:175431873C>T	uc002uiz.3	-	6	1481	c.1381G>A	c.(1381-1383)Gat>Aat	p.D461N	BC046497_uc002uiw.3_Intron|BC046497_uc002uix.1_Intron|WIPF1_uc002uja.3_Missense_Mutation_p.D461N|WIPF1_uc010fqt.1_Missense_Mutation_p.D461N|WIPF1_uc002ujb.2_Missense_Mutation_p.D461N	NM_003387	NP_003378	O43516	WIPF1_HUMAN	Homo sapiens WAS/WASL interacting protein family, member 1 (WIPF1), transcript variant 1, mRNA.	461					actin polymerization or depolymerization|protein complex assembly	cytoplasmic membrane-bounded vesicle	actin binding|profilin binding	p.D461N(2)		NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)	32						GGTGGCAAATCGGAAATCGGA	0.443000														34			14		0	0	1	0	0
RIN3	79890	broad.mit.edu	37	14	93118183	93118183	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:93118183G>A	uc001yap.3	+	5	941	c.789G>A	c.(787-789)ccG>ccA	p.P263P	RIN3_uc010auk.3_5'UTR|RIN3_uc001yaq.3_Silent_p.P188P|RIN3_uc001yar.1_5'UTR|RIN3_uc001yas.1_5'UTR	NM_024832	NP_079108	Q8TB24	RIN3_HUMAN	Homo sapiens Ras and Rab interactor 3 (RIN3), mRNA.	263	Pro-rich.				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				GCCCTTTGCCGCCCACCTCTG	0.672000														31			18		0	0	1	0	0
UBE3B	89910	broad.mit.edu	37	12	109945392	109945392	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:109945392C>T	uc001top.3	+	14	2077	c.1474C>T	c.(1474-1476)Ctt>Ttt	p.L492F	UBE3B_uc001toq.3_Missense_Mutation_p.L492F|UBE3B_uc001tos.3_5'Flank|UBE3B_uc001too.1_Non-coding_Transcript|UBE3B_uc009zvj.1_Missense_Mutation_p.L492F	NM_130466	NP_904324	Q7Z3V4	UBE3B_HUMAN	Homo sapiens ubiquitin protein ligase E3B (UBE3B), transcript variant 1, mRNA.	492					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						TGATGACCTGCTTCCCAAACT	0.493000														70			31		0	0	1	0	0
ZNF700	90592	broad.mit.edu	37	19	12060209	12060209	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:12060209C>T	uc010xme.2	+	4	1615	c.1424C>T	c.(1423-1425)tCt>tTt	p.S475F	ZNF700_uc002msu.3_Missense_Mutation_p.S457F|ZNF700_uc010xmf.2_Intron			Q9H0M5	ZN700_HUMAN	Homo sapiens zinc finger protein 700 (ZNF700), mRNA.	457					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						GCCTTCAGATCTACCTCACAC	0.483000														30			20		0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3238348	3238348	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:3238348G>A	uc004crg.4	-	4	5535	c.5378C>T	c.(5377-5379)cCg>cTg	p.P1793L		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	1793						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CGTGGTCTGCGGAGTGTGCAA	0.483000														16			16		0	0	1	0	0
CENPQ	55166	broad.mit.edu	37	6	49456375	49456375	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:49456375C>A	uc003ozh.1	+	7	742	c.653C>A	c.(652-654)aCt>aAt	p.T218N		NM_018132	NP_060602	Q7L2Z9	CENPQ_HUMAN	Homo sapiens centromere protein Q (CENPQ), mRNA.	218					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	chromosome, centromeric region|cytosol|nucleoplasm				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(4)|ovary(2)|prostate(1)	11	Lung NSC(77;0.0128)					TCTCAGAAAACTCTCAAAGCA	0.358000														41			23		1.9806e-07	2.28575e-07	1	1	0
AP2A1	160	broad.mit.edu	37	19	50302934	50302934	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:50302934G>A	uc002ppn.3	+	9	1394	c.1183G>A	c.(1183-1185)Gcc>Acc	p.A395T	AP2A1_uc010enj.1_Non-coding_Transcript|AP2A1_uc002ppo.3_Missense_Mutation_p.A395T|AP2A1_uc002ppp.1_5'Flank	NM_014203	NP_055018	O95782	AP2A1_HUMAN	Homo sapiens adaptor-related protein complex 2, alpha 1 subunit (AP2A1), transcript variant 1, mRNA.	395					Golgi to endosome transport|axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|clathrin coat of trans-Golgi network vesicle|cytosol	protein binding|protein transporter activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)	19		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)		CCTCCTCTACGCCATGTGTGA	0.632000														41			17		0	0	1	0	0
KIAA0226	9711	broad.mit.edu	37	3	197430514	197430514	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:197430514G>T	uc003fyc.2	-	4	658	c.475C>A	c.(475-477)Ctg>Atg	p.L159M	KIAA0226_uc003fyd.3_Missense_Mutation_p.L99M|KIAA0226_uc003fye.1_5'Flank|KIAA0226_uc003fyf.3_5'UTR|KIAA0226_uc003fyg.3_Missense_Mutation_p.L152M	NM_014687	NP_055502	Q92622	RUBIC_HUMAN	Homo sapiens KIAA0226 (KIAA0226), transcript variant 2, mRNA.	159	RUN.				autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding			NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		TCACTTAGCAGGAAGGCAGCA	0.562000														20			3		1	1	1	1	0
RPL32	6161	broad.mit.edu	37	3	12881651	12881651	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:12881651A>G	uc003bxl.3	-	0	299	c.86T>C	c.(85-87)gTc>gCc	p.V29A	RPL32_uc003bxm.3_Missense_Mutation_p.V29A|RPL32_uc003bxn.3_Missense_Mutation_p.V29A	NM_001007074	NP_001007075	P62910	RL32_HUMAN	Homo sapiens ribosomal protein L32 (RPL32), transcript variant 3, mRNA.	29					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	protein binding|structural constituent of ribosome			kidney(1)|large_intestine(2)|lung(2)|ovary(1)	6						CTTAATTTTGACATATCGGTC	0.478000														230			22		0	0	1	0	0
USP2	9099	broad.mit.edu	37	11	119229791	119229791	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:119229791T>C	uc001pwm.4	-	5	1410	c.1115A>G	c.(1114-1116)gAg>gGg	p.E372G	USP2_uc001pwl.4_Missense_Mutation_p.E163G|USP2_uc001pwn.4_Missense_Mutation_p.E129G	NM_004205	NP_004196	O75604	UBP2_HUMAN	Homo sapiens ubiquitin specific peptidase 2 (USP2), transcript variant 1, mRNA.	372					cell cycle|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|positive regulation of mitotic cell cycle|protein deubiquitination|protein stabilization|ubiquitin-dependent protein catabolic process	nucleus|perinuclear region of cytoplasm	cyclin binding|cysteine-type endopeptidase activity|metal ion binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	24		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)		TCGGTTCACCTCGTTATGGAG	0.493000														67			10		0	0	1	0	0
TBC1D2	55357	broad.mit.edu	37	9	100961731	100961731	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:100961731G>A	uc011lvb.2	-	12	2899	c.2719C>T	c.(2719-2721)Cgg>Tgg	p.R907W	TBC1D2_uc004ayp.3_Missense_Mutation_p.R447W|TBC1D2_uc004ayq.3_Missense_Mutation_p.R896W|TBC1D2_uc004ayr.3_Missense_Mutation_p.R689W	NM_018421	NP_060891	Q9BYX2	TBD2A_HUMAN	Homo sapiens TBC1 domain family, member 2 (TBC1D2), mRNA.	907						cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		CGGGATGCCCGCCTCTCCAGG	0.682000														91			66		0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51695675	51695675	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:51695675G>A	uc003pah.1	-	51	8562	c.8286C>T	c.(8284-8286)gaC>gaT	p.D2762D	PKHD1_uc010jzn.1_Silent_p.D745D|PKHD1_uc003pai.3_Silent_p.D2762D	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	2762	G8 2.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					AAATGAGAACGTCATCCCCAG	0.453000														37			33		0	0	1	0	0
PRR14	78994	broad.mit.edu	37	16	30666273	30666273	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:30666273C>A	uc002dyy.3	+	7	1240	c.982C>A	c.(982-984)Ctg>Atg	p.L328M	PRR14_uc002dyz.3_Missense_Mutation_p.L173M|PRR14_uc002dza.3_Missense_Mutation_p.L328M|PRR14_uc002dzb.1_Missense_Mutation_p.L142M	NM_024031	NP_076936	Q9BWN1	PRR14_HUMAN	Homo sapiens proline rich 14 (PRR14), mRNA.	328	Pro-rich.									breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	18			Colorectal(24;0.103)			TAAGCCCTCTCTGGGCCGAAG	0.687000														32			10		0.0581538	0.0591027	1	1	0
O3FAR1	338557	broad.mit.edu	37	10	95326896	95326896	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:95326896T>C	uc010qnt.2	+	0	475	c.419T>C	c.(418-420)aTc>aCc	p.I140T	O3FAR1_uc010qnu.2_Missense_Mutation_p.I140T	NM_181745	NP_859529	Q5NUL3	O3FA1_HUMAN	Homo sapiens omega-3 fatty acid receptor 1 (O3FAR1), transcript variant 1, mRNA.	140					negative regulation of cytokine secretion|negative regulation of inflammatory response|regulation of glucose transport	integral to membrane|plasma membrane	fatty acid binding			breast(1)|endometrium(1)|kidney(2)|lung(6)|prostate(2)	12						ATGGTGTGCATCGTGCACCTG	0.711000														9			8		0	0	1	0	0
KCNJ10	3766	broad.mit.edu	37	1	160012180	160012180	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:160012180C>T	uc001fuw.2	-	1	383	c.143G>A	c.(142-144)cGc>cAc	p.R48H		NM_002241	NP_002232	P78508	IRK10_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 10 (KCNJ10), mRNA.	48						integral to plasma membrane	ATP binding|ATP-activated inward rectifier potassium channel activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)	17	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GTAGAGGAAGCGCTTGTCGGC	0.557000														81			40		0	0	1	0	0
DPF2	5977	broad.mit.edu	37	11	65109026	65109026	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:65109026C>T	uc001odm.3	+	3	591	c.458C>T	c.(457-459)gCg>gTg	p.A153V	DPF2_uc010roe.2_Missense_Mutation_p.A153V	NM_006268	NP_006259	Q92785	REQU_HUMAN	Homo sapiens D4, zinc and double PHD fingers family 2 (DPF2), mRNA.	153					apoptosis|induction of apoptosis by extracellular signals|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	nucleic acid binding|zinc ion binding	p.R152Q(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)	23						AACAGTCGAGCGCGAAAGGTA	0.562000														23			9		0	0	1	0	0
NT5C3L	115024	broad.mit.edu	37	17	39992198	39992198	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:39992198C>A	uc021txo.1	-	1	102	c.24G>T	c.(22-24)ctG>ctT	p.L8L	NT5C3L_uc021txn.1_5'UTR|NT5C3L_uc002hxy.4_5'UTR|KLHL10_uc010cxr.3_5'Flank|KLHL10_uc010wfv.1_5'Flank|KLHL10_uc010wfw.2_5'Flank	NM_052935	NP_443167	C9JKC4	C9JKC4_HUMAN	Homo sapiens 5'-nucleotidase, cytosolic III-like (NT5C3L), transcript variant 1, mRNA.	8						cytoplasm	5'-nucleotidase activity|magnesium ion binding			kidney(1)|large_intestine(6)|lung(2)|prostate(1)|urinary_tract(1)	11		Breast(137;0.000162)		BRCA - Breast invasive adenocarcinoma(366;0.15)		TGGCCTTCATCAGGGTGCTCA	0.726000														2			3		0.115264	0.116841	1	1	0
NAA16	79612	broad.mit.edu	37	13	41936259	41936259	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:41936259C>T	uc001uyf.2	+	12	1827	c.1503C>T	c.(1501-1503)taC>taT	p.Y501Y	NAA16_uc010tfg.1_Non-coding_Transcript	NM_024561	NP_078837	Q6N069	NAA16_HUMAN	Homo sapiens N(alpha)-acetyltransferase 16, NatA auxiliary subunit (NAA16), transcript variant 1, mRNA.	501					N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent	cytoplasm|transcription factor complex	binding			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|urinary_tract(2)	31						TGGGGAGATACGGGGATGCCT	0.388000														53			14		0	0	1	0	0
ARL6IP6	151188	broad.mit.edu	37	2	153591515	153591515	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:153591515G>A	uc002tyn.3	+	2	1194	c.462G>A	c.(460-462)tgG>tgA	p.W154*	ARL6IP6_uc002tym.3_Non-coding_Transcript|ARL6IP6_uc002tyo.2_Nonsense_Mutation_p.W46*	NM_152522	NP_689735	Q8N6S5	AR6P6_HUMAN	Homo sapiens ADP-ribosylation-like factor 6 interacting protein 6 (ARL6IP6), transcript variant 1, mRNA.	154						integral to membrane				kidney(1)|large_intestine(1)|lung(2)|pancreas(1)	5						AAGGATTCTGGACTCTACTTA	0.353000														99			37		0	0	1	0	0
EGFR	1956	broad.mit.edu	37	7	55233088	55233088	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:55233088C>T	uc003tqk.3	+	14	2084	c.1838C>T	c.(1837-1839)gCc>gTc	p.A613V	EGFR_uc003tqi.3_Missense_Mutation_p.A613V|EGFR_uc003tqj.3_Missense_Mutation_p.A613V|EGFR_uc022adm.1_Missense_Mutation_p.A613V|EGFR_uc010kzg.2_Missense_Mutation_p.A568V|EGFR_uc022adn.1_Missense_Mutation_p.A568V|EGFR_uc011kco.2_Missense_Mutation_p.A560V|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_Non-coding_Transcript|EGFR_uc003tqn.3_Non-coding_Transcript	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	613					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of MAP kinase activity|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to UV-A|response to stress	Golgi membrane|Shc-EGFR complex|basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|integral to membrane|nuclear membrane	ATP binding|MAP/ERK kinase kinase activity|actin filament binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TACGCAGACGCCGGCCATGTG	0.542000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				55			11		0	0	1	0	0
APBB1IP	54518	broad.mit.edu	37	10	26825126	26825126	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:26825126G>A	uc001iss.3	+	9	1345	c.1024G>A	c.(1024-1026)Gta>Ata	p.V342I	APBB1IP_uc009xks.1_Missense_Mutation_p.V342I	NM_019043	NP_061916	Q7Z5R6	AB1IP_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein (APBB1IP), mRNA.	342	PH.				blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						AATTTATTATGTACCCAAAGG	0.343000														104			68		0	0	1	0	0
INADL	10207	broad.mit.edu	37	1	62293185	62293185	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:62293185G>A	uc001dab.3	+	15	2024	c.1910G>A	c.(1909-1911)cGg>cAg	p.R637Q	INADL_uc009waf.1_Missense_Mutation_p.R637Q|INADL_uc001daa.2_Missense_Mutation_p.R637Q|INADL_uc001dad.3_Missense_Mutation_p.R334Q|INADL_uc001dac.3_Non-coding_Transcript	NM_176877	NP_795352	Q8NI35	INADL_HUMAN	Homo sapiens InaD-like (Drosophila) (INADL), mRNA.	637	PDZ 4.				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						GTTTGCTGTCGGAGGTTGTTT	0.443000														66			44		0	0	1	0	0
NLRP14	338323	broad.mit.edu	37	11	7081244	7081244	+	Missense_Mutation	SNP	A	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:7081244A>T	uc001mfb.1	+	8	3076	c.2753A>T	c.(2752-2754)aAg>aTg	p.K918M		NM_176822	NP_789792	Q86W24	NAL14_HUMAN	Homo sapiens NLR family, pyrin domain containing 14 (NLRP14), mRNA.	918					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		AATGGAGTGAAGCTTCTGTGT	0.423000														152			32		0	0	1	0	0
APC	324	broad.mit.edu	37	5	112173300	112173300	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:112173300A>C	uc003kpz.4	+	16	2202	c.2009A>C	c.(2008-2010)aAa>aCa	p.K670T	APC_uc011cvt.2_Missense_Mutation_p.K652T|APC_uc003kpy.4_Missense_Mutation_p.K670T|APC_uc010jbz.3_Missense_Mutation_p.K387T|APC_uc010jca.3_5'UTR	NM_001127510	NP_001120982	P25054	APC_HUMAN	Homo sapiens adenomatous polyposis coli (APC), transcript variant 2, mRNA.	670	Leu-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|adherens junction|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.K670*(2)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		CAACACTTAAAATCTCATAGT	0.368000		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)				43			20		0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135429126	135429126	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:135429126C>T	uc004ezu.1	+	5	3552	c.3261C>T	c.(3259-3261)acC>acT	p.T1087T	GPR112_uc010nsb.1_Silent_p.T882T|GPR112_uc010nsc.1_Silent_p.T854T	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	1087					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TGATTCGTACCACTTCAGAGG	0.468000														143			88		0	0	1	0	0
PLCE1	51196	broad.mit.edu	37	10	96012083	96012083	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:96012083G>A	uc001kjk.3	+	8	3741	c.3107G>A	c.(3106-3108)cGg>cAg	p.R1036Q	PLCE1_uc010qnx.2_Missense_Mutation_p.R1036Q|PLCE1_uc001kjm.3_Missense_Mutation_p.R728Q	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	Homo sapiens phospholipase C, epsilon 1 (PLCE1), transcript variant 1, mRNA.	1036					Ras protein signal transduction|activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of cell growth|regulation of smooth muscle contraction	Golgi membrane|cytosol|membrane fraction|plasma membrane	Ras GTPase binding|calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				GAGGATGGACGGTATGAAGGC	0.493000														43			22		0	0	1	0	0
OR52W1	120787	broad.mit.edu	37	11	6221305	6221305	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6221305C>T	uc010qzz.2	+	0	852	c.852C>T	c.(850-852)aaC>aaT	p.N284N		NM_001005178	NP_001005178	Q6IF63	O52W1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily W, member 1 (OR52W1), mRNA.	284					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)	11		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;2.13e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTCTCTCCAACATCTACTTGC	0.527000														214			158		0	0	1	0	0
TAF5L	27097	broad.mit.edu	37	1	229738582	229738582	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:229738582C>T	uc001htq.3	-	3	498	c.332G>A	c.(331-333)aGt>aAt	p.S111N	TAF5L_uc001htr.3_Missense_Mutation_p.S111N	NM_014409	NP_055224	O75529	TAF5L_HUMAN	Homo sapiens TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa (TAF5L), transcript variant 1, mRNA.	111					histone H3 acetylation|transcription from RNA polymerase II promoter	STAGA complex|transcription factor TFTC complex	sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)	11	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)				GCTCTTCGGACTGTTTTGGAC	0.453000														81			8		0	0	1	0	0
POLG	5428	broad.mit.edu	37	15	89865974	89865974	+	Splice_Site	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:89865974T>C	uc002bns.4	-	14	2708	c.2426_splice	c.e14+1	p.S809_splice	POLG_uc002bnr.4_Splice_Site_p.S809_splice	NM_002693	NP_002684	P54098	DPOG1_HUMAN	Homo sapiens polymerase (DNA directed), gamma (POLG), transcript variant 1, mRNA.	809					DNA-dependent DNA replication|base-excision repair, gap-filling|cell death	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			GTGGCCCACCTGATACGTTTA	0.597000								DNA polymerases (catalytic subunits)						235			13		0	0	1	0	0
NUP98	4928	broad.mit.edu	37	11	3789871	3789871	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:3789871C>A	uc001lyh.3	-	7	1309	c.888G>T	c.(886-888)caG>caT	p.Q296H	NUP98_uc001lyi.3_Missense_Mutation_p.Q296H|NUP98_uc001lyj.2_Missense_Mutation_p.Q296H|NUP98_uc001lyk.2_Missense_Mutation_p.Q296H	NM_016320	NP_057404	P52948	NUP98_HUMAN	Homo sapiens nucleoporin 98kDa (NUP98), transcript variant 1, mRNA.	296	Gly/Thr-rich.				DNA replication|carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|mitotic prometaphase|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	Nup107-160 complex|cytosol|nuclear membrane|nucleoplasm	protein binding|structural constituent of nuclear pore|transporter activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		AGCCAGTGTTCTGGGTGGTTG	0.473000			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML									128			10		0.010729	0.011087	1	1	0
PGBD1	84547	broad.mit.edu	37	6	28268879	28268879	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:28268879G>A	uc003nky.3	+	6	1668	c.1248G>A	c.(1246-1248)aaG>aaA	p.K416K	PGBD1_uc003nkz.3_Silent_p.K416K	NM_032507	NP_115896	Q96JS3	PGBD1_HUMAN	Homo sapiens piggyBac transposable element derived 1 (PGBD1), transcript variant 2, mRNA.	416					viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						AGAGCGAAAAGTTGAACCCAG	0.353000														113			7		0	0	1	0	0
LPIN2	9663	broad.mit.edu	37	18	2940711	2940711	+	Splice_Site	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:2940711C>A	uc002klo.3	-	5	830	c.591_splice	c.e5-1	p.R197_splice		NM_014646	NP_055461	Q92539	LPIN2_HUMAN	Homo sapiens lipin 2 (LPIN2), mRNA.	197					fatty acid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|triglyceride biosynthetic process	cytosol|endoplasmic reticulum membrane|nucleus	phosphatidate phosphatase activity|transcription coactivator activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	29				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)		TGAAGATCCTCTGTGAAGGAG	0.408000														31			10		7.48243e-07	8.52591e-07	1	1	0
EBNA1BP2	10969	broad.mit.edu	37	1	43636428	43636428	+	Splice_Site	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:43636428T>G	uc010ojx.2	-	5	761	c.612_splice	c.e5+1	p.K204_splice	EBNA1BP2_uc001cio.3_Splice_Site_p.K204_splice|WDR65_uc010ojz.2_5'Flank|WDR65_uc001ciq.2_5'Flank|WDR65_uc001cip.2_5'Flank|WDR65_uc021omk.1_5'Flank|EBNA1BP2_uc001cin.3_Splice_Site_p.K149_splice	NM_001159936	NP_006815	Q99848	EBP2_HUMAN	Homo sapiens EBNA1 binding protein 2 (EBNA1BP2), transcript variant 1, mRNA.	149					ribosome biogenesis	membrane fraction|nucleolus	protein binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)	16	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				ATTTCTTACCTTCTGCATCTG	0.453000														103			58		0	0	1	0	0
LAMC2	3918	broad.mit.edu	37	1	183204709	183204709	+	Splice_Site	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:183204709G>A	uc001gqa.2	+	16	2615	c.2301_splice	c.e16-1	p.S767_splice	LAMC2_uc001gpz.4_Splice_Site_p.S767_splice|LAMC2_uc010poa.2_Splice_Site_p.S467_splice	NM_005562	NP_005553	Q13753	LAMC2_HUMAN	Homo sapiens laminin, gamma 2 (LAMC2), transcript variant 1, mRNA.	767	Domain II and I.				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						AATCCTTTCAGCCACGTTGAG	0.473000											OREG0014042	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		26			9		0	0	1	0	0
CHRNA4	1137	broad.mit.edu	37	20	61981752	61981752	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:61981752C>T	uc002yes.2	-	4	1189	c.1011G>A	c.(1009-1011)acG>acA	p.T337T	CHRNA4_uc002yet.1_Silent_p.T161T|CHRNA4_uc010gke.1_Silent_p.T266T|CHRNA4_uc002yev.1_Silent_p.T161T|CHRNA4_uc010gkf.1_Silent_p.T161T	NM_000744	NP_000735	P43681	ACHA4_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 4 (CHRNA4), mRNA.	337					B cell activation|DNA repair|behavioral response to nicotine|calcium ion transport|cognition|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	p.R336H(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Nicotine(DB00184)|Varenicline(DB01273)	GCATGGTGTGCGTGCGTGGCG	0.622000														31			20		0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41710040	41710040	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:41710040C>T	uc002yyq.1	-	7	2223	c.1771G>A	c.(1771-1773)Gtg>Atg	p.V591M	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	591	Ig-like C2-type 6.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TTCACGGTCACGTGGACGCTC	0.502000														94			43		0	0	1	0	0
TRIM23	373	broad.mit.edu	37	5	64887632	64887632	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:64887632C>T	uc003jty.3	-	10	1775	c.1689G>A	c.(1687-1689)cgG>cgA	p.R563R	TRIM23_uc003jtw.3_Intron|TRIM23_uc003jtx.3_Intron	NM_001656	NP_001647	P36406	TRI23_HUMAN	Homo sapiens tripartite motif containing 23 (TRIM23), transcript variant alpha, mRNA.	563	ARF-like.				interspecies interaction between organisms|small GTPase mediated signal transduction	Golgi membrane|lysosomal membrane	GDP binding|GTP binding|GTPase activity|enzyme activator activity|protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	28		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Breast(144;0.0433)|Ovarian(174;0.0545)|Colorectal(97;0.234)		Lung(70;0.00473)		CTACAAGTTGCCGTGAGAGCC	0.428000														38			22		0	0	1	0	0
MACROD2	140733	broad.mit.edu	37	20	15948229	15948229	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:15948229C>T	uc002wou.3	+	12	1203	c.939C>T	c.(937-939)ggC>ggT	p.G313G	MACROD2_uc002wot.3_Silent_p.G313G|MACROD2_uc002woz.3_Silent_p.G78G|MACROD2_uc002wpb.3_Silent_p.G78G	NM_080676	NP_542407	A1Z1Q3	MACD2_HUMAN	Homo sapiens MACRO domain containing 2 (MACROD2), transcript variant 1, mRNA.	313	Glu-rich.									breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				TTACAAAAGGCGGTGAAGTGA	0.378000														45			28		0	0	1	0	0
SLC9A2	6549	broad.mit.edu	37	2	103274445	103274445	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:103274445C>A	uc002tca.3	+	1	854	c.712C>A	c.(712-714)Ctg>Atg	p.L238M		NM_003048	NP_003039	Q9UBY0	SL9A2_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 2 (SLC9A2), mRNA.	238						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						GCTCTACATCCTGGTCTTTGG	0.527000														116			11		1.08611e-07	1.25606e-07	1	1	0
DNMT3B	1789	broad.mit.edu	37	20	31395665	31395665	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:31395665C>T	uc002wyc.3	+	22	2839	c.2518C>T	c.(2518-2520)Cga>Tga	p.R840*	DNMT3B_uc002wyd.3_Nonsense_Mutation_p.R820*|DNMT3B_uc002wye.3_Nonsense_Mutation_p.R757*|DNMT3B_uc010ztz.2_Nonsense_Mutation_p.R715*|DNMT3B_uc010zua.2_Nonsense_Mutation_p.R681*|DNMT3B_uc010gee.3_Non-coding_Transcript|DNMT3B_uc010gef.3_Non-coding_Transcript|DNMT3B_uc002wyf.3_Nonsense_Mutation_p.R832*|DNMT3B_uc002wyg.3_Nonsense_Mutation_p.R476*|DNMT3B_uc010geg.3_Missense_Mutation_p.P99L|DNMT3B_uc010geh.3_Non-coding_Transcript	NM_006892	NP_008823	Q9UBC3	DNM3B_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 3 beta (DNMT3B), transcript variant 1, mRNA.	840			R -> Q (in ICF).		negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GCCTGTCATCCGACACCTCTT	0.602000														102			12		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106963001	106963001	+	RNA	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:106963001G>T	uc021ser.1	-	268		c.10729C>A								Parts of antibodies, mostly variable regions.																		TGTGCTCATAGACCTGTCCCT	0.498000														107			61		1.72039e-30	2.27065e-30	1	1	0
CDC42BPB	9578	broad.mit.edu	37	14	103434650	103434650	+	Silent	SNP	G	A	A	rs144299645		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:103434650G>A	uc001ymi.1	-	15	2518	c.2286C>T	c.(2284-2286)taC>taT	p.Y762Y		NM_006035	NP_006026	Q9Y5S2	MRCKB_HUMAN	Homo sapiens CDC42 binding protein kinase beta (DMPK-like) (CDC42BPB), mRNA.	762					actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		TTTCTCGTTCGTATTTATCTT	0.388000														83			47		0	0	1	0	0
OR9Q2	219957	broad.mit.edu	37	11	57958284	57958284	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:57958284G>A	uc010rka.2	+	0	379	c.322G>A	c.(322-324)Gcc>Acc	p.A108T		NM_001005283	NP_001005283	Q8NGE9	OR9Q2_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily Q, member 2 (OR9Q2), mRNA.	108					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F107Y(1)		breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(24)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41		Breast(21;0.0589)				CACCTTCTTTGCCTCCATCGA	0.587000														80			28		0	0	1	0	0
TRIM3	10612	broad.mit.edu	37	11	6477399	6477399	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6477399C>T	uc001mdh.3	-	7	1832	c.1436G>A	c.(1435-1437)cGt>cAt	p.R479H	TRIM3_uc001mdi.3_Missense_Mutation_p.R479H|TRIM3_uc010raj.2_Missense_Mutation_p.R360H|TRIM3_uc009yfd.3_Missense_Mutation_p.R479H|TRIM3_uc010rak.1_Missense_Mutation_p.R479H	NM_006458	NP_006449	O75382	TRIM3_HUMAN	Homo sapiens tripartite motif containing 3 (TRIM3), transcript variant 1, mRNA.	479					nervous system development|protein transport	early endosome	protein C-terminus binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTCCCTTCCACGACTGCCTGT	0.532000														52			4		0	0	1	0	0
FREM1	158326	broad.mit.edu	37	9	14748498	14748498	+	Silent	SNP	A	C	C	rs17852893		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:14748498A>C	uc003zlm.3	-	31	6513	c.5697T>G	c.(5695-5697)tcT>tcG	p.S1899S	FREM1_uc010mic.3_Non-coding_Transcript|FREM1_uc003zlk.3_Intron|FREM1_uc003zll.3_Silent_p.S435S	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.	1899					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		GCTGCATGGAAGATGGAAGAG	0.522000														141			13		0	0	1	0	0
ZNF786	136051	broad.mit.edu	37	7	148768026	148768026	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:148768026C>T	uc003wfh.2	-	3	1975	c.1838G>A	c.(1837-1839)cGc>cAc	p.R613H	ZNF786_uc011kuk.1_Missense_Mutation_p.R576H|ZNF786_uc003wfi.2_Missense_Mutation_p.R527H	NM_152411	NP_689624	Q8N393	ZN786_HUMAN	Homo sapiens zinc finger protein 786 (ZNF786), mRNA.	613					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			CGTGTGCAGGCGCTGATGGCT	0.657000														37			12		0	0	1	0	0
BRPF1	7862	broad.mit.edu	37	3	9776248	9776248	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:9776248C>A	uc003bse.3	+	1	823	c.424C>A	c.(424-426)Cca>Aca	p.P142T	BRPF1_uc003bsf.3_Missense_Mutation_p.P142T|BRPF1_uc003bsg.3_Missense_Mutation_p.P142T|BRPF1_uc011ati.2_Missense_Mutation_p.P142T	NM_004634	NP_004625	P55201	BRPF1_HUMAN	Homo sapiens bromodomain and PHD finger containing, 1 (BRPF1), transcript variant 2, mRNA.	142	Interaction with MYST3 and MYST4.				histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|cytoplasm|plasma membrane	DNA binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					CACTGAGACACCAGCTGCTAC	0.542000														42			7		8.12818e-05	8.84769e-05	1	1	0
MMP10	4319	broad.mit.edu	37	11	102647349	102647349	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:102647349G>T	uc001phg.2	-	4	818	c.781C>A	c.(781-783)Ctc>Atc	p.L261I		NM_002425	NP_002416	P09238	MMP10_HUMAN	Homo sapiens matrix metallopeptidase 10 (stromelysin 2) (MMP10), mRNA.	261					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6)	22	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)		TCACCGTAGAGAGACTGAATG	0.463000														63			15		3.41278e-10	4.10877e-10	1	1	0
HEATR7B2	133558	broad.mit.edu	37	5	41012745	41012745	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:41012745C>A	uc003jmj.4	-	29	3565	c.3075G>T	c.(3073-3075)aaG>aaT	p.K1025N	HEATR7B2_uc003jmi.4_Missense_Mutation_p.K580N	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	1025							binding			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						TGCCACAGGCCTTTGTACAAG	0.448000														46			29		4.74835e-14	5.93493e-14	1	1	0
MTHFR	4524	broad.mit.edu	37	1	11850928	11850928	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:11850928G>A	uc001atb.1	-	10	2047	c.1849C>T	c.(1849-1851)Cgg>Tgg	p.R617W	MTHFR_uc001atc.2_Missense_Mutation_p.R594W	NM_005957	NP_005948	P42898	MTHR_HUMAN	Homo sapiens methylenetetrahydrofolate reductase (NAD(P)H) (MTHFR), mRNA.	594					blood circulation|folic acid metabolic process	cytosol	methylenetetrahydrofolate reductase (NADPH) activity|protein binding			NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|Raltitrexed(DB00293)|Riboflavin(DB00140)|S-Adenosylmethionine(DB00118)|Tetrahydrofolic acid(DB00116)	TTTCCCCACCGCTCAATCCAC	0.557000														30			22		0	0	1	0	0
GPR160	26996	broad.mit.edu	37	3	169802423	169802423	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:169802423C>A	uc003fgi.3	+	3	1253	c.663C>A	c.(661-663)atC>atA	p.I221I	GPR160_uc010hwq.3_Silent_p.I221I|GPR160_uc021xhe.1_Silent_p.I221I	NM_014373	NP_055188	Q9UJ42	GP160_HUMAN	Homo sapiens G protein-coupled receptor 160 (GPR160), mRNA.	221						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|cervix(1)|kidney(1)|large_intestine(3)|lung(2)	8	all_cancers(22;3.26e-22)|all_epithelial(15;5.71e-27)|all_lung(20;8.41e-17)|Lung NSC(18;3.49e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			ATGAAACTATCTTATATTTTC	0.338000														72			8		7.48243e-07	8.52591e-07	1	1	0
RRM1	6240	broad.mit.edu	37	11	4148305	4148305	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:4148305G>A	uc001lyw.4	+	13	1830	c.1511G>A	c.(1510-1512)gGg>gAg	p.G504E	RRM1_uc009yej.2_Non-coding_Transcript|RRM1_uc009yei.3_Missense_Mutation_p.G464E|RRM1_uc010qyc.2_Missense_Mutation_p.G407E|RRM1_uc010qyd.2_Missense_Mutation_p.G166E	NM_001033	NP_001024	P23921	RIR1_HUMAN	Homo sapiens ribonucleotide reductase M1 (RRM1), mRNA.	504					DNA replication|deoxyribonucleotide biosynthetic process|nucleobase, nucleoside and nucleotide interconversion	cytosol|nucleoplasm|ribonucleoside-diphosphate reductase complex	ATP binding|ribonucleoside-diphosphate reductase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)	14		Medulloblastoma(188;0.0025)|Breast(177;0.00502)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0848)|LUSC - Lung squamous cell carcinoma(625;0.205)	Clofarabine(DB00631)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Hydroxyurea(DB01005)	ATTGGAATTGGGGTACAAGGT	0.388000														61			33		0	0	1	0	0
MTRF1	9617	broad.mit.edu	37	13	41834982	41834982	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:41834982C>T	uc010tff.2	-	2	320	c.101G>A	c.(100-102)tGt>tAt	p.C34Y	MTRF1_uc001uxx.3_Missense_Mutation_p.C21Y|MTRF1_uc001uxy.3_Missense_Mutation_p.C21Y|MTRF1_uc001uxz.3_5'UTR|MTRF1_uc001uyc.1_Missense_Mutation_p.C21Y			O75570	RF1M_HUMAN	Homo sapiens mitochondrial translational release factor 1 (MTRF1), nuclear gene encoding mitochondrial protein, mRNA.	21					regulation of translational termination	mitochondrion	translation release factor activity, codon specific			breast(1)|endometrium(4)|large_intestine(3)|lung(6)	14		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)|Ovarian(182;0.125)		OV - Ovarian serous cystadenocarcinoma(117;4.24e-10)|all cancers(112;2.05e-09)|Epithelial(112;2.48e-09)|GBM - Glioblastoma multiforme(144;0.00115)|BRCA - Breast invasive adenocarcinoma(63;0.0721)|KIRC - Kidney renal clear cell carcinoma(186;0.248)		CTGGATGTGACACTGGAGGTA	0.363000														48			19		0	0	1	0	0
CHRND	1144	broad.mit.edu	37	2	233399045	233399045	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:233399045A>G	uc002vsw.3	+	10	1368	c.1364A>G	c.(1363-1365)tAc>tGc	p.Y455C	CHRND_uc010zmg.2_Missense_Mutation_p.Y440C|CHRND_uc010zmh.2_Missense_Mutation_p.Y261C	NM_000751	NP_000742	Q07001	ACHD_HUMAN	Homo sapiens cholinergic receptor, nicotinic, delta (CHRND), mRNA.	455					muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)	34		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)		CAGAACAATTACAATGAGGTA	0.493000														31			19		0	0	1	0	0
ZNF77	58492	broad.mit.edu	37	19	2934794	2934794	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:2934794A>G	uc002lws.4	-	3	462	c.331T>C	c.(331-333)Tgt>Cgt	p.C111R		NM_021217	NP_067040	Q15935	ZNF77_HUMAN	Homo sapiens zinc finger protein 77 (ZNF77), mRNA.	111					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)	17				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18)		TTACTTTCACAGAGTCTCCCC	0.413000														65			49		0	0	1	0	0
FAN1	22909	broad.mit.edu	37	15	31202936	31202936	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:31202936G>A	uc001zff.3	+	3	1786	c.1495G>A	c.(1495-1497)Gcc>Acc	p.A499T	FAN1_uc001zfc.3_Missense_Mutation_p.A499T|FAN1_uc010azw.2_Missense_Mutation_p.A499T|FAN1_uc001zfd.3_Missense_Mutation_p.A499T|FAN1_uc001zfe.3_Missense_Mutation_p.A104T	NM_014967	NP_055782	Q9Y2M0	FAN1_HUMAN	Homo sapiens FANCD2/FANCI-associated nuclease 1 (FAN1), transcript variant 1, mRNA.	499					double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision	nucleus	5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding	p.D498D(1)		autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						GCTGGTGGACGCCTTTCTCAA	0.458000								Direct reversal of damage						44			12		0	0	1	0	0
abParts	0	broad.mit.edu	37	2	89161303	89161303	+	Splice_Site	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:89161303G>T	uc021vkt.1	-	266		c.9894_splice	c.e266+1		abParts_uc002sti.1_5'Flank|abParts_uc002stj.1_Intron					Parts of antibodies, mostly variable regions.																		AAGGATATCAGAGGCTGATTG	0.393000														24			3		0.00909568	0.00940365	1	1	0
KIAA0319L	79932	broad.mit.edu	37	1	35972362	35972362	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:35972362C>T	uc001byx.3	-	2	775	c.517G>A	c.(517-519)Gct>Act	p.A173T	KIAA0319L_uc010ohw.2_Non-coding_Transcript|KIAA0319L_uc010ohx.1_Missense_Mutation_p.A173T	NM_024874	NP_079150	Q8IZA0	K319L_HUMAN	Homo sapiens KIAA0319-like (KIAA0319L), mRNA.	173						cytoplasmic vesicle part|integral to membrane	protein binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GAAGATACAGCAGGTCTGAGT	0.498000														94			8		0	0	1	0	0
TOP2B	7155	broad.mit.edu	37	3	25686851	25686851	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:25686851T>C	uc011awn.1	-	1	223	c.180A>G	c.(178-180)caA>caG	p.Q60Q	TOP2B_uc003cdj.2_Silent_p.Q55Q|TOP2B_uc021wug.1_Silent_p.Q55Q	NM_001068	NP_001059	Q02880	TOP2B_HUMAN	Homo sapiens topoisomerase (DNA) II beta 180kDa (TOP2B), mRNA.	60					DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation	DNA topoisomerase complex (ATP-hydrolyzing)|WINAC complex|cytosol|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|chromatin binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36						TGTGTTCAAGTTGTGTCTTCT	0.368000														94			6		0	0	1	0	0
CXorf58	254158	broad.mit.edu	37	X	23953347	23953347	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:23953347C>A	uc004daz.1	+	6	934	c.590C>A	c.(589-591)tCt>tAt	p.S197Y	CXorf58_uc011mju.1_Missense_Mutation_p.S197Y	NM_152761	NP_689974	Q96LI9	CX058_HUMAN	Homo sapiens chromosome X open reading frame 58 (CXorf58), transcript variant 1, mRNA.	197										breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)	14						CCTGCATTTTCTGGCGGCAGA	0.423000														113			89		9.79686e-34	1.29682e-33	1	1	0
RAB9A	9367	broad.mit.edu	37	X	13727016	13727016	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:13727016G>A	uc022bte.1	+	0	151	c.151G>A	c.(151-153)Gtg>Atg	p.V51M	RAB9A_uc004cvm.3_Missense_Mutation_p.V51M|RAB9A_uc010neh.3_Missense_Mutation_p.V51M	NM_004251	NP_004242	P51151	RAB9A_HUMAN	Homo sapiens RAB9A, member RAS oncogene family (RAB9A), transcript variant 1, mRNA.	51					protein transport|small GTPase mediated signal transduction	Golgi membrane|endoplasmic reticulum membrane|late endosome|lysosome|plasma membrane	GDP binding|GTP binding|GTPase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	7						AGATTTGGAAGTGGATGGACA	0.418000														143			83		0	0	1	0	0
TFG	10342	broad.mit.edu	37	3	100455466	100455466	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:100455466C>T	uc003duf.3	+	5	812	c.627C>T	c.(625-627)agC>agT	p.S209S	TFG_uc003due.3_Silent_p.S209S|TFG_uc003dug.3_Silent_p.S209S|TFG_uc003dui.3_Silent_p.S209S	NM_001007565	NP_006061	Q92734	TFG_HUMAN	Homo sapiens TRK-fused gene (TFG), transcript variant 2, mRNA.	209					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm	signal transducer activity		TFG/NR4A3(2)|TFG/NTRK1_ENST00000392302(5)|TFG/ALK(9)	large_intestine(4)|lung(2)|prostate(1)|stomach(1)	8						CACCCGACAGCATTGCTTCCT	0.527000			T	"""NTRK1, ALK"""	"""papillary thyroid, ALCL, NSCLC"""									22			17		0	0	1	0	0
CUL2	8453	broad.mit.edu	37	10	35351961	35351961	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:35351961G>T	uc010qer.2	-	2	310	c.206C>A	c.(205-207)cCt>cAt	p.P69H	CUL2_uc021ppa.1_Missense_Mutation_p.P63H|CUL2_uc009xma.3_5'UTR|CUL2_uc001ixv.3_Missense_Mutation_p.P50H|CUL2_uc001ixw.3_Missense_Mutation_p.P50H|CUL2_uc010qes.2_Missense_Mutation_p.P50H	NM_001198778	NP_001185707	Q13617	CUL2_HUMAN	Homo sapiens cullin 2 (CUL2), transcript variant 1, mRNA.	50					G1/S transition of mitotic cell cycle|cell cycle arrest|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex	ubiquitin protein ligase binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2)	31						AAGGGGTTCAGGATAGGCCAC	0.303000														72			5		0.184627	0.186034	1	1	0
PCSK7	9159	broad.mit.edu	37	11	117100139	117100139	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:117100139C>T	uc001pqr.3	-	2	623	c.422G>A	c.(421-423)cGc>cAc	p.R141H		NM_004716	NP_004707	Q16549	PCSK7_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 7 (PCSK7), mRNA.	141		Cleavage; by autolysis (By similarity).			peptide hormone processing	integral to Golgi membrane	serine-type endopeptidase activity			NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)		GTGGACGCTGCGCTTGGCCCG	0.617000			T	IGH@	MLCLS									127			18		0	0	1	0	0
TRRAP	8295	broad.mit.edu	37	7	98555694	98555694	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:98555694C>A	uc003upp.3	+	42	6510	c.6301C>A	c.(6301-6303)Ctt>Att	p.L2101I	TRRAP_uc011kis.2_Missense_Mutation_p.L2083I|TRRAP_uc003upr.3_Missense_Mutation_p.L1800I	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.	2101	Interaction with TP53.				histone H2A acetylation|histone H4 acetylation|histone deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GGTGAACTTCCTTATCCGCGT	0.572000														26			10		0.010729	0.011087	1	1	0
SLC12A6	9990	broad.mit.edu	37	15	34531196	34531196	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:34531196C>T	uc001zhw.3	-	18	2766	c.2602G>A	c.(2602-2604)Gaa>Aaa	p.E868K	SLC12A6_uc001zhv.3_Missense_Mutation_p.E817K|SLC12A6_uc001zhz.3_Non-coding_Transcript|SLC12A6_uc001zhx.3_Missense_Mutation_p.E853K|SLC12A6_uc001zhy.3_Non-coding_Transcript|SLC12A6_uc001zia.3_Missense_Mutation_p.E809K|SLC12A6_uc001zib.3_Missense_Mutation_p.E859K|SLC12A6_uc001zic.3_Missense_Mutation_p.E868K|SLC12A6_uc010bau.3_Missense_Mutation_p.E868K|SLC12A6_uc001zid.3_Missense_Mutation_p.E809K|SLC12A6_uc001zht.3_Non-coding_Transcript|SLC12A6_uc001zhu.3_Missense_Mutation_p.E680K	NM_133647	NP_598408	Q9UHW9	S12A6_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 6 (SLC12A6), transcript variant 1, mRNA.	868					angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity	p.E859K(1)|p.E817K(1)		central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	CGGGCATCTTCGCTTTGACGC	0.517000														138			86		0	0	1	0	0
LTB4R2	56413	broad.mit.edu	37	14	24780618	24780618	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:24780618G>A	uc021rrp.1	+	0	748	c.748G>A	c.(748-750)Gca>Aca	p.A250T	CIDEB_uc001woo.3_5'Flank|CIDEB_uc001wop.3_5'Flank|LTB4R2_uc010alo.3_Missense_Mutation_p.A250T|LTB4R2_uc001wor.3_Missense_Mutation_p.A250T|LTB4R_uc001wos.3_5'Flank|LTB4R_uc010alp.3_5'Flank	NM_019839	NP_062813	Q9NPC1	LT4R2_HUMAN	Homo sapiens leukotriene B4 receptor 2 (LTB4R2), transcript variant 1, mRNA.	281					chemotaxis|negative regulation of adenylate cyclase activity	integral to plasma membrane				endometrium(1)|lung(1)|ovary(1)	3				GBM - Glioblastoma multiforme(265;0.018)		GCAGGCGGTCGCAGCGCTGGC	0.711000														15			10		0	0	1	0	0
MORC3	23515	broad.mit.edu	37	21	37736539	37736539	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:37736539C>A	uc002yvi.3	+	13	1677	c.1601C>A	c.(1600-1602)tCt>tAt	p.S534Y		NM_015358	NP_056173	Q14149	MORC3_HUMAN	Homo sapiens MORC family CW-type zinc finger 3 (MORC3), mRNA.	534					cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization	PML body|aggresome|intermediate filament cytoskeleton	ATP binding|zinc ion binding	p.Q533E(1)|p.Q533H(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						CCACCTCAGTCTGAACCTGAG	0.388000														44			7		1.06961e-07	1.2399e-07	1	1	0
NRAP	4892	broad.mit.edu	37	10	115401192	115401192	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:115401192G>A	uc001lal.3	-	12	1419	c.1255C>T	c.(1255-1257)Cgc>Tgc	p.R419C	NRAP_uc001laj.3_Missense_Mutation_p.R419C|NRAP_uc001lak.3_Missense_Mutation_p.R384C	NM_198060	NP_932326	Q86VF7	NRAP_HUMAN	Homo sapiens nebulin-related anchoring protein (NRAP), transcript variant 2, mRNA.	419						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		CCTTCATAGCGGCCTCTCATG	0.438000														46			16		0	0	1	0	0
CCDC164	92749	broad.mit.edu	37	2	26672923	26672923	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:26672923C>T	uc002rhg.2	+	11	1643	c.1569C>T	c.(1567-1569)tgC>tgT	p.C523C		NM_145038	NP_659475	Q96MC2	CC164_HUMAN	Homo sapiens coiled-coil domain containing 164 (CCDC164), mRNA.	523										cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(16)|ovary(1)|skin(1)|stomach(1)	35						AGAATGAATGCTATCTGCTGA	0.607000														9			5		0	0	1	0	0
ILDR1	286676	broad.mit.edu	37	3	121720628	121720628	+	Nonsense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:121720628C>A	uc003ees.3	-	3	666	c.463G>T	c.(463-465)Gga>Tga	p.G155*	ILDR1_uc003eeq.3_Nonsense_Mutation_p.G167*|ILDR1_uc003eer.3_Nonsense_Mutation_p.G155*|ILDR1_uc010hrg.3_Intron	NM_001199799	NP_001186728	Q86SU0	ILDR1_HUMAN	Homo sapiens immunoglobulin-like domain containing receptor 1 (ILDR1), transcript variant 1, mRNA.	155	Ig-like V-type.					cytosol|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		TCGGGGTCTCCTGATGTGTCC	0.488000														79			47		3.86361e-14	4.8319e-14	1	1	0
SCAF11	9169	broad.mit.edu	37	12	46326922	46326922	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:46326922T>C	uc001rox.3	-	8	1013	c.726A>G	c.(724-726)ggA>ggG	p.G242G	SCAF11_uc001roy.1_Silent_p.G316G	NM_004719	NP_004710	Q99590	SCAFB_HUMAN	Homo sapiens SR-related CTD-associated factor 11 (SCAF11), mRNA.	242					spliceosome assembly	nucleus	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						ACCTTCCAATTCCAGGTAATG	0.333000														34			19		0	0	1	0	0
TEAD1	7003	broad.mit.edu	37	11	12904597	12904597	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:12904597T>C	uc021qdx.1	+	8	1244	c.624T>C	c.(622-624)ggT>ggC	p.G208G	TEAD1_uc001mkk.4_Silent_p.G112G|TEAD1_uc009ygl.3_Silent_p.G87G	NM_021961	NP_068780	P28347	TEAD1_HUMAN	Homo sapiens TEA domain family member 1 (SV40 transcriptional enhancer factor) (TEAD1), mRNA.	208	Transcriptional activation (Potential).				hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)	17				Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236)		CCTGGCAAGGTCGCTCCATTG	0.587000														54			26		0	0	1	0	0
SPATS2L	26010	broad.mit.edu	37	2	201342573	201342573	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:201342573C>T	uc010zhc.2	+	12	1709	c.1586C>T	c.(1585-1587)cCc>cTc	p.P529L	SPATS2L_uc002uvn.4_Missense_Mutation_p.P499L|SPATS2L_uc010fst.3_Missense_Mutation_p.P499L|SPATS2L_uc002uvo.4_Missense_Mutation_p.P439L|SPATS2L_uc002uvp.4_Missense_Mutation_p.P499L|SPATS2L_uc002uvq.4_Missense_Mutation_p.P430L|SPATS2L_uc002uvr.4_Missense_Mutation_p.P499L	NM_015535	NP_056350	Q9NUQ6	SPS2L_HUMAN	Homo sapiens spermatogenesis associated, serine-rich 2-like (SPATS2L), transcript variant 1, mRNA.	499						cytoplasm|nucleolus				endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	10						ATGAAGACCCCCGAGGCCCCG	0.617000														1			3		0	0	1	0	0
FCRL5	83416	broad.mit.edu	37	1	157494299	157494299	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:157494299G>T	uc009wsm.3	-	9	2167	c.2009C>A	c.(2008-2010)gCt>gAt	p.A670D	FCRL5_uc001fqu.3_Missense_Mutation_p.A670D|FCRL5_uc010phv.1_Missense_Mutation_p.A670D|FCRL5_uc010phw.1_Missense_Mutation_p.A585D	NM_001195388	NP_001182317	Q96RD9	FCRL5_HUMAN	Homo sapiens Fc receptor-like 5 (FCRL5), transcript variant 2, mRNA.	670	Ig-like C2-type 7.					integral to membrane|plasma membrane	receptor activity	p.Q669H(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				CCCCACCACAGCCTGGGCCCT	0.527000														41			5		0.0215528	0.0220531	1	1	0
PRIC285	85441	broad.mit.edu	37	20	62193506	62193506	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:62193506G>A	uc002yfm.2	-	10	7340	c.6448C>T	c.(6448-6450)Cgc>Tgc	p.R2150C	PRIC285_uc002yfl.1_Missense_Mutation_p.R1581C	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	Homo sapiens peroxisomal proliferator-activated receptor A interacting complex 285 (PRIC285), transcript variant 1, mRNA.	2150					cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|RNA binding|helicase activity|ribonuclease activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(4)|cervix(3)|endometrium(6)|kidney(3)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(4)|urinary_tract(2)	47	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)			AGCTTGTGGCGGCCTCCGGGG	0.672000														8			7		0	0	1	0	0
PDZD8	118987	broad.mit.edu	37	10	119043323	119043323	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:119043323G>A	uc001lde.1	-	4	3120	c.2921C>T	c.(2920-2922)aCg>aTg	p.T974M		NM_173791	NP_776152	Q8NEN9	PDZD8_HUMAN	Homo sapiens PDZ domain containing 8 (PDZD8), mRNA.	974					intracellular signal transduction		metal ion binding			kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		GTTGTCTGACGTGTTGGGTGT	0.458000														209			114		0	0	1	0	0
TBC1D10C	374403	broad.mit.edu	37	11	67174430	67174430	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:67174430G>A	uc001ola.3	+	7	810	c.781G>A	c.(781-783)Gcc>Acc	p.A261T	PPP1CA_uc001okx.1_Intron|TBC1D10C_uc001okz.3_Intron|TBC1D10C_uc001olb.3_Non-coding_Transcript	NM_198517	NP_940919	Q8IV04	TB10C_HUMAN	Homo sapiens TBC1 domain family, member 10C (TBC1D10C), mRNA.	261	Rab-GAP TBC.					intracellular	Rab GTPase activator activity	p.F260C(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			GTGCCTCTTCGCCCGCTCCCT	0.687000														111			87		0	0	1	0	0
SMC4	10051	broad.mit.edu	37	3	160148851	160148851	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:160148851G>A	uc003fdh.3	+	19	3085	c.2972G>A	c.(2971-2973)cGc>cAc	p.R991H	IFT80_uc003fda.3_Intron|SMC4_uc003fdi.3_Missense_Mutation_p.R966H|SMC4_uc003fdj.3_Missense_Mutation_p.R991H|SMC4_uc010hwd.3_Intron|SMC4_uc003fdl.3_Missense_Mutation_p.R694H	NM_001002800	NP_005487	Q9NTJ3	SMC4_HUMAN	Homo sapiens structural maintenance of chromosomes 4 (SMC4), transcript variant 2, mRNA.	991					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			AAAGAACATCGCAATCTGCTT	0.338000														33			24		0	0	1	0	0
IRX5	10265	broad.mit.edu	37	16	54967551	54967551	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:54967551G>A	uc002ehv.3	+	2	1218	c.1218G>A	c.(1216-1218)gcG>gcA	p.A406A	IRX5_uc021tin.1_Silent_p.A405A|IRX5_uc002ehw.3_Silent_p.A340A	NM_005853	NP_005844	P78411	IRX5_HUMAN	Homo sapiens iroquois homeobox 5 (IRX5), transcript variant 1, mRNA.	406					response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|vitamin D binding			kidney(3)|large_intestine(6)|lung(4)|prostate(1)	14						ACTACACCGCGCCCTTCTATC	0.701000														28			7		0	0	1	0	0
GNAI2	2771	broad.mit.edu	37	3	50293708	50293708	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:50293708G>A	uc003cyq.1	+	4	670	c.549G>A	c.(547-549)acG>acA	p.T183T	GNAI2_uc003cyo.1_Silent_p.T167T|GNAI2_uc003cyp.1_Silent_p.T167T|GNAI2_uc010hlg.1_Silent_p.T102T|GNAI2_uc011bdn.2_Silent_p.T146T|GNAI2_uc003cyr.1_Silent_p.T102T	NM_002070	NP_002061	P04899	GNAI2_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2 (GNAI2), transcript variant 1, mRNA.	183					adenosine receptor signaling pathway|cell cycle|cell division|gamma-aminobutyric acid signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|platelet activation|response to nutrient|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|liver(2)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000288)|KIRC - Kidney renal clear cell carcinoma(197;0.00571)|Kidney(197;0.00651)		TAAAGACCACGGGGATCGTGG	0.592000														28			14		0	0	1	0	0
ADAM33	80332	broad.mit.edu	37	20	3653192	3653192	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:3653192G>A	uc002wit.3	-	12	1480	c.1393C>T	c.(1393-1395)Cgc>Tgc	p.R465C	ADAM33_uc002wiq.1_5'Flank|ADAM33_uc002wir.1_Missense_Mutation_p.R465C|ADAM33_uc002wis.3_5'UTR|ADAM33_uc002wiu.3_Missense_Mutation_p.R465C|AX748440_uc002wiv.1_5'Flank|ADAM33_uc002wiw.1_Intron|ADAM33_uc010gba.1_Intron|ADAM33_uc010gbb.1_Intron|ADAM33_uc002wix.1_Missense_Mutation_p.R197C	NM_025220	NP_079496	Q9BZ11	ADA33_HUMAN	Homo sapiens ADAM metallopeptidase domain 33 (ADAM33), transcript variant 1, mRNA.	465	Disintegrin.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3)	29						ACCAGGCAGCGCACGCAGCAG	0.657000														31			21		0	0	1	0	0
GPR61	83873	broad.mit.edu	37	1	110086628	110086628	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:110086628G>T	uc021orh.1	+	0	984	c.984G>T	c.(982-984)tgG>tgT	p.W328C	GPR61_uc001dxy.2_Missense_Mutation_p.W328C	NM_031936	NP_114142	Q9BZJ8	GPR61_HUMAN	Homo sapiens G protein-coupled receptor 61 (GPR61), mRNA.	328						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	23		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)		TGGTCACCTGGATTGGCTACT	0.522000														139			51		4.10029e-35	5.43386e-35	1	1	0
ZNF644	84146	broad.mit.edu	37	1	91406643	91406643	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:91406643C>A	uc001dnw.3	-	2	551	c.268G>T	c.(268-270)Ggc>Tgc	p.G90C	ZNF644_uc001dnv.3_Intron|ZNF644_uc001dnx.3_Intron|ZNF644_uc001dny.2_Missense_Mutation_p.G90C	NM_201269	NP_958357	Q9H582	ZN644_HUMAN	Homo sapiens zinc finger protein 644 (ZNF644), transcript variant 1, mRNA.	90					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		CTAGACTGGCCTCCACTTAAG	0.393000														112			21		1.96292e-10	2.36921e-10	1	1	0
MYSM1	114803	broad.mit.edu	37	1	59147880	59147880	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:59147880C>T	uc009wab.2	-	7	859	c.836G>A	c.(835-837)tGt>tAt	p.C279Y	MYSM1_uc001czc.3_Non-coding_Transcript	NM_001085487	NP_001078956	Q5VVJ2	MYSM1_HUMAN	Homo sapiens Myb-like, SWIRM and MPN domains 1 (MYSM1), mRNA.	279					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin remodeling complex	DNA binding|histone binding|metal ion binding|metallopeptidase activity|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(7;9.36e-06)					ATTTTGAAGACAGCCCCTGGA	0.358000														166			14		0	0	1	0	0
XIST	7503	broad.mit.edu	37	X	73064107	73064107	+	RNA	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:73064107C>T	uc004ebm.1	-	0		c.8482G>A								Homo sapiens X (inactive)-specific transcript (non-protein coding) (XIST), non-coding RNA.																		TGATTACATACATTAATGTCC	0.383000														180			22		0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62289689	62289689	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:62289689T>C	uc001ntl.3	-	4	12500	c.12200A>G	c.(12199-12201)aAa>aGa	p.K4067R	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	4067					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CATGCTGAATTTGGGCATTTT	0.493000														250			13		0	0	1	0	0
CDC45	8318	broad.mit.edu	37	22	19502298	19502298	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:19502298G>A	uc011aha.2	+	14	1418	c.1340G>A	c.(1339-1341)gGc>gAc	p.G447D	CDC45_uc011agz.1_Missense_Mutation_p.G410D|CDC45_uc002zpr.3_Missense_Mutation_p.G415D|CDC45_uc002zpt.3_Missense_Mutation_p.G369D	NM_001178010	NP_001171481	O75419	CDC45_HUMAN	Homo sapiens cell division cycle 45 homolog (S. cerevisiae) (CDC45), transcript variant 1, mRNA.	415					DNA replication checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle	centrosome|nucleoplasm	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	19						CTGTACCATGGCCTGGAACTC	0.537000														33			5		0	0	1	0	0
DRP2	1821	broad.mit.edu	37	X	100503523	100503523	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:100503523G>A	uc004egz.2	+	13	1844	c.1475G>A	c.(1474-1476)cGg>cAg	p.R492Q	DRP2_uc011mrh.1_Missense_Mutation_p.R414Q	NM_001939	NP_001164655	Q13474	DRP2_HUMAN	Homo sapiens dystrophin related protein 2 (DRP2), transcript variant 1, mRNA.	492					central nervous system development	cytoplasm|cytoskeleton	zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						GGAAAGATGCGGGCATTGTCT	0.433000														332			33		0	0	1	0	0
SLC4A3	6508	broad.mit.edu	37	2	220493264	220493264	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:220493264C>T	uc002vmo.4	+	2	398	c.189C>T	c.(187-189)agC>agT	p.S63S	SLC4A3_uc002vmn.2_Silent_p.S63S|SLC4A3_uc002vmp.4_Silent_p.S63S|SLC4A3_uc010fwm.3_5'UTR	NM_201574	NP_963868	P48751	B3A3_HUMAN	Homo sapiens solute carrier family 4, anion exchanger, member 3 (SLC4A3), transcript variant 2, mRNA.	63					bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGAAGCCCAGCCGCAGCTACA	0.657000														19			4		0	0	1	0	0
OAZ2	4947	broad.mit.edu	37	15	64982604	64982604	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:64982604C>A	uc002ano.2	-	3	537	c.322G>T	c.(322-324)Gat>Tat	p.D108Y		NM_002537	NP_002528	O95190	OAZ2_HUMAN	Homo sapiens ornithine decarboxylase antizyme 2 (OAZ2), mRNA.	108					polyamine metabolic process|regulation of cellular amino acid metabolic process	cytosol|nucleus	ornithine decarboxylase inhibitor activity|protein binding									L-Ornithine(DB00129)	AATAATCCATCTGGGATTTCT	0.488000														163			12		5.50884e-06	6.15991e-06	1	1	0
CNOT1	23019	broad.mit.edu	37	16	58560003	58560003	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:58560003G>T	uc002env.3	-	44	6786	c.6493C>A	c.(6493-6495)Ctc>Atc	p.L2165I	CNOT1_uc002enw.3_Non-coding_Transcript|CNOT1_uc002enu.4_Missense_Mutation_p.L2160I|CNOT1_uc002ent.3_Missense_Mutation_p.L103I|CNOT1_uc010vik.2_Missense_Mutation_p.L1122I	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 1 (CNOT1), transcript variant 1, mRNA.	2165					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		AAATTGGTGAGAATCCGGGGA	0.393000														94			6		0.00198382	0.00208369	1	1	0
HACE1	57531	broad.mit.edu	37	6	105244881	105244881	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:105244881C>A	uc003pqu.1	-	7	914	c.637G>T	c.(637-639)Gca>Tca	p.A213S	HACE1_uc010kcy.1_5'UTR|HACE1_uc010kcz.1_Missense_Mutation_p.A213S	NM_020771	NP_065822	Q8IYU2	HACE1_HUMAN	Homo sapiens HECT domain and ankyrin repeat containing, E3 ubiquitin protein ligase 1 (HACE1), mRNA.	213					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	endoplasmic reticulum	ubiquitin-protein ligase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)		AGGATCTGTGCTGTATCTCTC	0.333000														48			14		1.49906e-05	1.66078e-05	1	1	0
FSCB	84075	broad.mit.edu	37	14	44975486	44975486	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:44975486C>A	uc001wvn.3	-	0	1014	c.705G>T	c.(703-705)agG>agT	p.R235S		NM_032135	NP_115511	Q5H9T9	FSCB_HUMAN	Homo sapiens fibrous sheath CABYR binding protein (FSCB), mRNA.	235						cilium				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		TTACTTCTTCCCTAAGCTCAT	0.393000														69			34		5.8336e-16	7.37176e-16	1	1	0
ZNF493	284443	broad.mit.edu	37	19	21607350	21607350	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:21607350A>G	uc002npw.3	+	3	2008	c.1889A>G	c.(1888-1890)aAa>aGa	p.K630R	ZNF493_uc002npx.3_Missense_Mutation_p.K502R|ZNF493_uc002npy.3_Missense_Mutation_p.K502R|ZNF493_uc021urq.1_Missense_Mutation_p.K502R	NM_001076678	NP_787106	Q6ZR52	ZN493_HUMAN	Homo sapiens zinc finger protein 493 (ZNF493), transcript variant 3, mRNA.	502					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						AAACCCTACAAATGTGAAGAA	0.388000														17			9		0	0	1	0	0
PDGFRB	5159	broad.mit.edu	37	5	149501462	149501462	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:149501462G>A	uc003lro.3	-	15	2794	c.2325C>T	c.(2323-2325)taC>taT	p.Y775Y	PDGFRB_uc010jhd.3_Silent_p.Y614Y	NM_002609	NP_002600	P09619	PGFRB_HUMAN	Homo sapiens platelet-derived growth factor receptor, beta polypeptide (PDGFRB), mRNA.	775	Protein kinase.				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	CGTAGTTATCGTAAGGGGCCA	0.512000			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""									57			29		0	0	1	0	0
LLPH	84298	broad.mit.edu	37	12	66522867	66522867	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:66522867C>T	uc010ssw.2	-	1	76	c.20G>A	c.(19-21)aGt>aAt	p.S7N	LLPH_uc010ssx.2_Non-coding_Transcript	NM_032338	NP_115714	Q9BRT6	LLPH_HUMAN	Homo sapiens LLP homolog, long-term synaptic facilitation (Aplysia) (LLPH), mRNA.	7	Lys-rich.									central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(1)|skin(1)	5						TTTCCACTTACTCCGTAAGCT	0.348000														36			36		0	0	1	0	0
ADAM7	8756	broad.mit.edu	37	8	24324368	24324368	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:24324368A>G	uc003xeb.3	+	5	559	c.446A>G	c.(445-447)gAt>gGt	p.D149G	ADAM7_uc003xea.1_Missense_Mutation_p.D149G	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN	Homo sapiens ADAM metallopeptidase domain 7 (ADAM7), mRNA.	149					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		AAATACTCAGATGAGGGAGAA	0.388000														103			9		0	0	1	0	0
GARNL3	84253	broad.mit.edu	37	9	130083004	130083004	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:130083004C>A	uc011mae.2	+	5	915	c.514C>A	c.(514-516)Ctg>Atg	p.L172M	GARNL3_uc011mad.2_Missense_Mutation_p.L150M	NM_032293	NP_115669	Q5VVW2	GARL3_HUMAN	Homo sapiens GTPase activating Rap/RanGAP domain-like 3 (GARNL3), mRNA.	172					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity|small GTPase regulator activity			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2)	41						TGCCATGAATCTGGACAAATT	0.378000														23			8		0.000274275	0.000294507	1	1	0
PDE6B	5158	broad.mit.edu	37	4	651256	651256	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:651256C>T	uc003gap.3	+	9	1427	c.1374C>T	c.(1372-1374)tgC>tgT	p.C458C	PDE6B_uc003gao.4_Silent_p.C458C|PDE6B_uc011buy.2_Silent_p.C179C|BC020343_uc003gaq.1_5'Flank	NM_000283	NP_001138764	P35913	PDE6B_HUMAN	Homo sapiens phosphodiesterase 6B, cGMP-specific, rod, beta (PDE6B), transcript variant 1, mRNA.	458					GMP metabolic process|cytosolic calcium ion homeostasis|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						ACGTGAAGTGCGACAGGGACG	0.617000														41			19		0	0	1	0	0
ABCC3	8714	broad.mit.edu	37	17	48750833	48750833	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:48750833C>T	uc002isl.3	+	18	2493	c.2413C>T	c.(2413-2415)Cga>Tga	p.R805*		NM_003786	NP_003777	O15438	MRP3_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 3 (ABCC3), transcript variant 1, mRNA.	805	ABC transporter 1.				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	TCCCCAGACGCGAGTGCTGGT	0.612000														36			25		0	0	1	0	0
LRGUK	136332	broad.mit.edu	37	7	133881836	133881836	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:133881836C>T	uc003vrm.1	+	12	1540	c.1524C>T	c.(1522-1524)agC>agT	p.S508S		NM_144648	NP_653249	Q96M69	LRGUK_HUMAN	Homo sapiens leucine-rich repeats and guanylate kinase domain containing (LRGUK), mRNA.	508	Guanylate kinase-like.						ATP binding|kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						GTTTGGCAAGCTGTATTCATA	0.373000														59			50		0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1271537	1271537	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:1271537C>T	uc001lta.3	+	30	13486	c.13427C>T	c.(13426-13428)gCt>gTt	p.A4476V		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	4476	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CAGGCAACTGCTGGCACCCCA	0.657000														55			36		0	0	1	0	0
POLQ	10721	broad.mit.edu	37	3	121207592	121207592	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:121207592C>A	uc003eee.4	-	15	4315	c.4186G>T	c.(4186-4188)Ggt>Tgt	p.G1396C	POLQ_uc003eed.3_Missense_Mutation_p.G568C	NM_199420	NP_955452	O75417	DPOLQ_HUMAN	Homo sapiens polymerase (DNA directed), theta (POLQ), mRNA.	1396					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA-directed DNA polymerase activity|damaged DNA binding|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		TTCATAGTACCTACAGTCTTA	0.418000								DNA polymerases (catalytic subunits)						112			11		0.00829132	0.00860413	1	1	0
PRIC285	85441	broad.mit.edu	37	20	62200916	62200916	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:62200916G>A	uc002yfm.2	-	4	1565	c.673C>T	c.(673-675)Cgc>Tgc	p.R225C	PRIC285_uc002yfl.1_5'Flank	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	Homo sapiens peroxisomal proliferator-activated receptor A interacting complex 285 (PRIC285), transcript variant 1, mRNA.	225					cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|RNA binding|helicase activity|ribonuclease activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(4)|cervix(3)|endometrium(6)|kidney(3)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(4)|urinary_tract(2)	47	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)			ACACGGAAGCGCTCACCCCGT	0.667000														6			6		0	0	1	0	0
ST8SIA2	8128	broad.mit.edu	37	15	93007444	93007444	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:93007444G>A	uc002bra.3	+	5	1112	c.957G>A	c.(955-957)ccG>ccA	p.P319P	ST8SIA2_uc002brb.3_Silent_p.P298P	NM_006011	NP_006002	Q92186	SIA8B_HUMAN	Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2 (ST8SIA2), mRNA.	319					N-glycan processing|axon guidance|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1)	20	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)			GGCCCTTTCCGCTGGATCAGA	0.517000														30			13		0	0	1	0	0
RRNAD1	51093	broad.mit.edu	37	1	156706423	156706423	+	Splice_Site	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:156706423G>T	uc001fpu.3	+	8	1941	c.1307_splice	c.e8-1	p.G436_splice	RRNAD1_uc001fpv.3_Splice_Site_p.G274_splice	NM_015997	NP_057081	Q96FB5	RRNAD_HUMAN	Homo sapiens ribosomal RNA adenine dimethylase domain containing 1 (RRNAD1), transcript variant 1, mRNA.	436				G -> L (in Ref. 4; AAH11382).		integral to membrane	rRNA (adenine-N6,N6-)-dimethyltransferase activity			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)	9						CTTTCTCCCAGGTTTCCATGC	0.547000														85			13		9.31168e-06	1.03939e-05	1	1	0
NAV3	89795	broad.mit.edu	37	12	78513292	78513292	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:78513292T>C	uc001syp.3	+	14	3489	c.3316T>C	c.(3316-3318)Tca>Cca	p.S1106P	NAV3_uc001syo.3_Missense_Mutation_p.S1106P|NAV3_uc010sub.2_Missense_Mutation_p.S606P|NAV3_uc009zsf.3_Missense_Mutation_p.S114P	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	Homo sapiens neuron navigator 3 (NAV3), mRNA.	1106	Ser-rich.					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						TGGCGGGAAGTCAAATGCAGG	0.478000										HNSCC(70;0.22)				45			6		0	0	1	0	0
MLNR	2862	broad.mit.edu	37	13	49794762	49794762	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:49794762C>T	uc010tgj.2	+	0	289	c.289C>T	c.(289-291)Cgc>Tgc	p.R97C		NM_001507	NP_001498	O43193	MTLR_HUMAN	Homo sapiens motilin receptor (MLNR), mRNA.	97					digestion	integral to plasma membrane	growth hormone-releasing hormone receptor activity			endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)	14		all_lung(13;8.31e-06)|Lung NSC(96;0.000251)|Breast(56;0.0008)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;6.1e-09)		CGACCTGTACCGCCTCTGGCG	0.687000														7			3		0	0	1	0	0
ITIH6	347365	broad.mit.edu	37	X	54817513	54817513	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:54817513G>A	uc004dtj.2	-	3	403	c.373C>T	c.(373-375)Cgg>Tgg	p.R125W		NM_198510	NP_940912	Q6UXX5	ITH5L_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 6 (ITIH6), mRNA.	125	VIT.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity										TCTGATTCCCGGTCCCTGGGC	0.582000														11			8		0	0	1	0	0
CDH1	999	broad.mit.edu	37	16	68844204	68844204	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:68844204G>T	uc002ewg.1	+	5	916	c.792G>T	c.(790-792)caG>caT	p.Q264H	CDH1_uc010vlj.1_Non-coding_Transcript|CDH1_uc010cfg.1_Missense_Mutation_p.Q264H	NM_004360	NP_004351	P12830	CADH1_HUMAN	Homo sapiens cadherin 1, type 1, E-cadherin (epithelial) (CDH1), mRNA.	264	Cadherin 2.				adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	Golgi apparatus|actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding	p.T263fs*3(12)|p.?(4)|p.F262_E265>L(2)|p.T263fs*6(1)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		AATTCACCCAGGAGGTCTTTA	0.463000			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer					93			37		2.54651e-27	3.34508e-27	1	1	0
CCL11	6356	broad.mit.edu	37	17	32614187	32614187	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:32614187G>T	uc002hia.1	+	1	290	c.149G>T	c.(148-150)aGg>aTg	p.R50M		NM_002986	NP_002977	P51671	CCL11_HUMAN	Homo sapiens chemokine (C-C motif) ligand 11 (CCL11), mRNA.	50					cell adhesion|cellular calcium ion homeostasis|immune response|positive regulation of Rac GTPase activity|positive regulation of actin filament polymerization|positive regulation of cell migration|positive regulation of endothelial cell proliferation|protein phosphorylation|response to radiation|response to virus|signal transduction	extracellular space	chemokine activity			breast(1)|lung(1)|prostate(1)	3	Breast(3;0.00224)	Breast(31;0.151)|Ovarian(249;0.17)		BRCA - Breast invasive adenocarcinoma(366;0.155)		GAGAGCTACAGGAGAATCACC	0.443000														38			5		0.184627	0.186034	1	1	0
C14orf102	55051	broad.mit.edu	37	14	90755214	90755214	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:90755214C>T	uc001xyi.2	-	10	2738	c.2505G>A	c.(2503-2505)tcG>tcA	p.S835S	C14orf102_uc010atp.1_Silent_p.S340S|C14orf102_uc001xyj.2_Silent_p.S604S	NM_017970	NP_060440	Q9H7Z3	CN102_HUMAN	Homo sapiens chromosome 14 open reading frame 102 (C14orf102), mRNA.	835							protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(10)|lung(12)|ovary(5)|prostate(2)|upper_aerodigestive_tract(1)	39		all_cancers(154;0.118)		COAD - Colon adenocarcinoma(157;0.218)		TCACTTCTGGCGACAGCTCCA	0.542000														21			11		0	0	1	0	0
SF1	7536	broad.mit.edu	37	11	64540927	64540927	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:64540927C>A	uc001obb.2	-	2	663	c.211G>T	c.(211-213)Ggc>Tgc	p.G71C	SF1_uc010rnn.2_Missense_Mutation_p.G45C|SF1_uc001oaz.2_Missense_Mutation_p.G196C|SF1_uc001oba.2_Missense_Mutation_p.G71C|SF1_uc001obd.2_Missense_Mutation_p.G71C|SF1_uc001obc.2_Missense_Mutation_p.G71C|SF1_uc001obe.2_Intron|SF1_uc010rno.2_Intron	NM_004630	NP_001171502	Q15637	SF01_HUMAN	Homo sapiens splicing factor 1 (SF1), transcript variant 1, mRNA.	71					nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ribosome|spliceosomal complex	RNA binding|protein binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						GGGGGGATGCCCAGGTCTCCT	0.443000														25			3		0.00909568	0.00940365	1	1	0
C9orf131	138724	broad.mit.edu	37	9	35044203	35044203	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:35044203A>C	uc003zvw.3	+	1	1606	c.1577A>C	c.(1576-1578)gAa>gCa	p.E526A	C9orf131_uc003zvu.3_Missense_Mutation_p.E478A|C9orf131_uc003zvv.3_Missense_Mutation_p.E453A|C9orf131_uc003zvx.3_Missense_Mutation_p.E491A	NM_203299	NP_976044	Q5VYM1	CI131_HUMAN	Homo sapiens chromosome 9 open reading frame 131 (C9orf131), transcript variant 1, mRNA.	526								p.E526K(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			ACCCTTATGGAACCACACAGA	0.507000														116			60		0	0	1	0	0
FRMPD4	9758	broad.mit.edu	37	X	12736536	12736536	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:12736536G>A	uc004cuz.2	+	15	4097	c.3591G>A	c.(3589-3591)aaG>aaA	p.K1197K	FRMPD4_uc011mij.2_Silent_p.K1189K	NM_014728	NP_055543	Q14CM0	FRPD4_HUMAN	Homo sapiens FERM and PDZ domain containing 4 (FRMPD4), mRNA.	1197					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						ACTTGGCCAAGCGGATGTCAT	0.577000														160			16		0	0	1	0	0
ACHE	43	broad.mit.edu	37	7	100490882	100490882	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100490882G>A	uc003uxd.3	-	0	1128	c.972C>T	c.(970-972)agC>agT	p.S324S	ACHE_uc003uxe.3_Silent_p.S324S|ACHE_uc003uxf.3_Silent_p.S324S|ACHE_uc003uxg.3_Silent_p.S324S|ACHE_uc003uxh.3_Silent_p.S324S|ACHE_uc003uxi.3_Silent_p.S324S|ACHE_uc003uxj.1_Silent_p.S443S	NM_000665	NP_000656	P22303	ACES_HUMAN	Homo sapiens acetylcholinesterase (ACHE), transcript variant E4-E6, mRNA.	324					DNA replication|acetylcholine catabolic process in synaptic cleft|amyloid precursor protein metabolic process|cell adhesion|cell proliferation|choline metabolic process|muscle organ development|neurotransmitter biosynthetic process|osteoblast development|positive regulation of protein secretion|regulation of axonogenesis|regulation of dendrite morphogenesis|response to wounding|synapse assembly	Golgi apparatus|anchored to membrane|axon|basal lamina|cell junction|cell surface|dendrite|endoplasmic reticulum lumen|extracellular space|neuromuscular junction|nucleus|perinuclear region of cytoplasm|postsynaptic membrane|presynaptic membrane|synaptic cleft	acetylcholine binding|acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|collagen binding|laminin-1 binding|protein homodimerization activity|serine hydrolase activity			large_intestine(3)|lung(7)|skin(3)|urinary_tract(3)	16	Lung NSC(181;0.041)|all_lung(186;0.0581)				Ambenonium(DB01122)|Atropine(DB00572)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium bromide(DB00944)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tacrine(DB00382)|Tubocurarine(DB01199)	ACCGGAAGACGCTTTCTTGAG	0.602000														36			9		0	0	1	0	0
MSRB1	51734	broad.mit.edu	37	16	1991332	1991332	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:1991332G>A	uc021tam.1	-	1	267	c.130C>T	c.(130-132)Ccg>Tcg	p.P44S	TCRBV20S1_uc021tak.1_Intron	NM_016332	NP_057416	Q9NZV6	MSRB1_HUMAN	Homo sapiens selenoprotein X, 1 (SEPX1), mRNA.	44					protein repair	cytoplasm|nucleus	peptide-methionine-(S)-S-oxide reductase activity|zinc ion binding									L-Methionine(DB00134)	GTGAACGCCGGCCATGGAGAC	0.592000														28			7		0	0	1	0	0
COL24A1	255631	broad.mit.edu	37	1	86210352	86210352	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:86210352C>A	uc001dlj.3	-	56	4744	c.4669G>T	c.(4669-4671)Gat>Tat	p.D1557Y	COL24A1_uc001dli.3_Missense_Mutation_p.D672Y|COL24A1_uc010osf.2_Non-coding_Transcript|COL24A1_uc010osd.2_Missense_Mutation_p.D857Y|COL24A1_uc001dlk.3_Non-coding_Transcript|COL24A1_uc010ose.2_Non-coding_Transcript	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN	Homo sapiens collagen, type XXIV, alpha 1 (COL24A1), mRNA.	1557	Fibrillar collagen NC1.				cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		AACTTACCATCTGATACTTTT	0.363000														124			11		0.0135373	0.0139797	1	1	0
NR3C1	2908	broad.mit.edu	37	5	142662143	142662143	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:142662143G>T	uc003lnd.3	-	7	3165	c.2171C>A	c.(2170-2172)tCt>tAt	p.S724Y	NR3C1_uc003lmy.3_Missense_Mutation_p.S725Y|NR3C1_uc003lmz.3_Missense_Mutation_p.S389Y|NR3C1_uc003lna.3_Missense_Mutation_p.S724Y|NR3C1_uc003lnb.3_Missense_Mutation_p.S724Y|NR3C1_uc011dbk.2_Missense_Mutation_p.S327Y|NR3C1_uc003lnf.3_Missense_Mutation_p.S725Y|NR3C1_uc003lne.3_Missense_Mutation_p.S724Y|NR3C1_uc003lnc.3_Missense_Mutation_p.S724Y|NR3C1_uc021yfa.1_3'UTR	NM_001018077	NP_001191193	P04150	GCR_HUMAN	Homo sapiens nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor) (NR3C1), transcript variant 5, mRNA.	724	Steroid-binding.				chromatin modification|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus|transcription from RNA polymerase II promoter	mitochondrial matrix|nucleoplasm	glucocorticoid receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	35		Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		Amcinonide(DB00288)|Betamethasone(DB00443)|Budesonide(DB01222)|Dexamethasone(DB01234)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluticasone Propionate(DB00588)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Prednisone(DB00635)	TTCATGCATAGAATCCAAGAG	0.393000														48			23		3.28513e-13	4.08142e-13	1	1	0
CCDC113	29070	broad.mit.edu	37	16	58292308	58292308	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:58292308G>T	uc002ene.3	+	3	506	c.427G>T	c.(427-429)Gtt>Ttt	p.V143F	CCDC113_uc010vid.2_Missense_Mutation_p.V89F	NM_014157	NP_054876	Q9H0I3	CC113_HUMAN	Homo sapiens coiled-coil domain containing 113 (CCDC113), transcript variant 1, mRNA.	143						protein complex				large_intestine(4)|lung(6)|ovary(1)|urinary_tract(1)	12						ATGGAGTGAAGTTTCGAGAGA	0.413000														59			36		1.836e-18	2.35332e-18	1	1	0
IFIT2	3433	broad.mit.edu	37	10	91066350	91066350	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:91066350G>A	uc009xts.3	+	1	812	c.637G>A	c.(637-639)Gtc>Atc	p.V213I	LIPA_uc001kgb.4_Intron|LIPA_uc001kgc.4_Intron|BC040833_uc001kgd.3_Intron	NM_001547	NP_001538	P09913	IFIT2_HUMAN	Homo sapiens interferon-induced protein with tetratricopeptide repeats 2 (IFIT2), mRNA.	213					negative regulation of protein binding|response to virus|type I interferon-mediated signaling pathway		protein binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	12		Colorectal(252;0.0161)				GTACCTTAAAGTCCTCCTGGC	0.502000														32			17		0	0	1	0	0
RAI1	10743	broad.mit.edu	37	17	17696880	17696880	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:17696880T>C	uc002grm.3	+	2	1087	c.618T>C	c.(616-618)ggT>ggC	p.G206G	RAI1_uc002grn.1_Silent_p.G206G	NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN	Homo sapiens retinoic acid induced 1 (RAI1), mRNA.	206	Gln-rich.					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)		TCCCCCAGGGTACCCACTTTC	0.632000														47			25		0	0	1	0	0
ADAMTS13	11093	broad.mit.edu	37	9	136324099	136324099	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:136324099C>T	uc004cdv.4	+	28	4525	c.4081C>T	c.(4081-4083)Cgg>Tgg	p.R1361W	ADAMTS13_uc004cdp.4_Missense_Mutation_p.P470L|ADAMTS13_uc004cdt.1_Missense_Mutation_p.R1305W|ADAMTS13_uc004cdu.1_Missense_Mutation_p.R1274W|ADAMTS13_uc004cdw.4_Missense_Mutation_p.R1305W|ADAMTS13_uc004cdx.4_Missense_Mutation_p.R1274W|ADAMTS13_uc004cdz.4_Missense_Mutation_p.R1031W|ADAMTS13_uc004ceb.4_Missense_Mutation_p.R157W|CACFD1_uc011mdg.1_5'Flank|CACFD1_uc011mdi.1_5'Flank|CACFD1_uc004cec.2_5'Flank|CACFD1_uc010nan.2_5'Flank|CACFD1_uc011mdh.1_5'Flank	NM_139025	NP_620594	Q76LX8	ATS13_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 13 (ADAMTS13), transcript variant 1, mRNA.	1361	CUB 2.				cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		CTCTCAGATCCGGGACACCCA	0.572000														14			9		0	0	1	0	0
KIAA1328	57536	broad.mit.edu	37	18	34415334	34415334	+	Nonsense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:34415334G>T	uc002kzz.3	+	2	254	c.232G>T	c.(232-234)Gaa>Taa	p.E78*	KIAA1328_uc021uiw.1_Nonsense_Mutation_p.E78*	NM_020776	NP_065827	Q86T90	K1328_HUMAN	Homo sapiens KIAA1328 (KIAA1328), mRNA.	78										central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	14				COAD - Colon adenocarcinoma(74;0.195)		TTCAGTAGATGAACAGGTTAG	0.398000														89			43		3.54909e-21	4.59085e-21	1	1	0
OR9A4	130075	broad.mit.edu	37	7	141619580	141619580	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:141619580G>A	uc003vwu.1	+	0	905	c.905G>A	c.(904-906)cGg>cAg	p.R302Q		NM_001001656	NP_001001656	Q8NGU2	OR9A4_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily A, member 4 (OR9A4), mRNA.	302					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22	Melanoma(164;0.0171)					GAGGCCCTTCGGGATGGGGTG	0.423000														71			7		0	0	1	0	0
AP4E1	23431	broad.mit.edu	37	15	51242130	51242130	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:51242130C>T	uc001zyx.2	+	11	1531	c.1424C>T	c.(1423-1425)gCg>gTg	p.A475V	AP4E1_uc021skz.1_Missense_Mutation_p.A400V	NM_007347	NP_031373	Q9UPM8	AP4E1_HUMAN	Homo sapiens adaptor-related protein complex 4, epsilon 1 subunit (AP4E1), transcript variant 1, mRNA.	475					intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		AGACTACTAGCGGAAGGTTGG	0.328000														62			40		0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105419259	105419259	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:105419259G>A	uc010axc.1	-	6	2649	c.2529C>T	c.(2527-2529)ttC>ttT	p.F843F	AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Silent_p.F743F	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	843						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCGACACCCCGAATGATGGCA	0.617000														222			100		0	0	1	0	0
CCDC65	85478	broad.mit.edu	37	12	49312551	49312551	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:49312551G>T	uc001rso.3	+	5	1118	c.891G>T	c.(889-891)aaG>aaT	p.K297N		NM_033124	NP_149115	Q8IXS2	CCD65_HUMAN	Homo sapiens coiled-coil domain containing 65 (CCDC65), mRNA.	297										breast(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	15						GTAATGACAAGGAATTGGTCC	0.458000														74			11		3.03607e-14	3.79918e-14	1	1	0
CLDN1	9076	broad.mit.edu	37	3	190030679	190030679	+	Missense_Mutation	SNP	C	T	T	rs140846629	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:190030679C>T	uc003fsh.3	-	1	610	c.370G>A	c.(370-372)Gcg>Acg	p.A124T		NM_021101	NP_066924	O95832	CLD1_HUMAN	Homo sapiens claudin 1 (CLDN1), mRNA.	124					calcium-independent cell-cell adhesion|interspecies interaction between organisms	integral to plasma membrane|tight junction	identical protein binding|structural molecule activity			lung(9)	9	all_cancers(143;2.95e-10)|Ovarian(172;0.0512)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.015)		AGAAATATCGCACCCCCAATG	0.458000														123			8		0	0	1	0	0
TMPRSS9	360200	broad.mit.edu	37	19	2399191	2399191	+	Splice_Site	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:2399191G>T	uc010xgx.2	+	3	412	c.412_splice	c.e3+1	p.G138_splice	TMPRSS9_uc002lvv.1_Splice_Site_p.G172_splice	NM_182973	NP_892018	Q7Z410	TMPS9_HUMAN	Homo sapiens transmembrane protease, serine 9 (TMPRSS9), mRNA.	138					proteolysis	integral to plasma membrane	serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGAGCTCACAGGTGAGTGGGC	0.587000														11			12		0.00244969	0.00257145	1	1	0
NDUFS1	4719	broad.mit.edu	37	2	207006690	207006690	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:207006690G>A	uc010ziq.2	-	11	1340	c.1279C>T	c.(1279-1281)Ctg>Ttg	p.L427L	NDUFS1_uc002vbe.3_Silent_p.L413L|NDUFS1_uc010zir.2_Silent_p.L377L|NDUFS1_uc010zis.2_Silent_p.L356L|NDUFS1_uc010zit.2_Silent_p.L302L|NDUFS1_uc010ziu.2_Silent_p.L297L	NM_001199984	NP_001186913	P28331	NDUS1_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase) (NDUFS1), transcript variant 5, mRNA.	413					ATP metabolic process|apoptosis|mitochondrial electron transport, NADH to ubiquinone|reactive oxygen species metabolic process|regulation of mitochondrial membrane potential|transport	mitochondrial intermembrane space|mitochondrial respiratory chain complex I	2 iron, 2 sulfur cluster binding|4 iron, 4 sulfur cluster binding|NADH dehydrogenase (ubiquinone) activity|electron carrier activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(15)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					NADH(DB00157)	GCATTAAACAGTGGTGCCTCA	0.328000														39			19		0	0	1	0	0
GALNT14	79623	broad.mit.edu	37	2	31135138	31135138	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:31135138G>T	uc002rns.3	-	14	2106	c.1466C>A	c.(1465-1467)cCt>cAt	p.P489H	GALNT14_uc002rnq.3_Missense_Mutation_p.P464H|GALNT14_uc010ymr.2_Missense_Mutation_p.P449H|GALNT14_uc002rnr.3_Missense_Mutation_p.P484H	NM_001253826	NP_001240755	Q96FL9	GLT14_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14) (GALNT14), transcript variant 2, mRNA.	484	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					TGGGGCGCCAGGGAACAAGGT	0.552000														70			7		0.000157383	0.000170012	1	1	0
CNBP	7555	broad.mit.edu	37	3	128890339	128890339	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:128890339C>T	uc021xdu.1	-	1	181	c.167G>A	c.(166-168)cGc>cAc	p.R56H	CNBP_uc021xdt.1_Missense_Mutation_p.R49H|CNBP_uc003elr.4_Missense_Mutation_p.R49H|CNBP_uc003elq.4_Missense_Mutation_p.R56H|CNBP_uc021xdv.1_Missense_Mutation_p.R49H|CNBP_uc021xdw.1_Missense_Mutation_p.R56H|CNBP_uc011bku.2_Missense_Mutation_p.R39H	NM_001127192	NP_001120664	P62633	CNBP_HUMAN	Homo sapiens CCHC-type zinc finger, nucleic acid binding protein (CNBP), transcript variant 1, mRNA.	56					cholesterol biosynthetic process	endoplasmic reticulum	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			biliary_tract(1)|endometrium(1)|kidney(1)|lung(2)	5						CTCACCACAGCGATAACAAAT	0.423000														37			29		0	0	1	0	0
TMEM117	84216	broad.mit.edu	37	12	44781981	44781981	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:44781981A>G	uc001rod.3	+	7	1137	c.1071A>G	c.(1069-1071)ctA>ctG	p.L357L	TMEM117_uc001roe.3_Silent_p.L253L|TMEM117_uc009zkc.3_3'UTR	NM_032256	NP_115632	Q9H0C3	TM117_HUMAN	Homo sapiens transmembrane protein 117 (TMEM117), mRNA.	357						endoplasmic reticulum|integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|urinary_tract(1)	23	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.124)		GAACCAAGCTATCCTGGGAAT	0.413000														61			5		0	0	1	0	0
MEF2B	100271849	broad.mit.edu	37	19	19257608	19257608	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:19257608C>A	uc002nlp.2	-	7	1345	c.618G>T	c.(616-618)ggG>ggT	p.G206G	MEF2B_uc002nll.2_Silent_p.G206G|MEF2B_uc010xqo.1_Silent_p.G206G|MEF2B_uc010xqp.1_Silent_p.G206G|MEF2B_uc002nlo.2_Silent_p.G206G|MEF2B_uc002nlk.2_Silent_p.G209G	NM_005919	NP_005910			Homo sapiens MEF2BNB-MEF2B readthrough (MEF2BNB-MEF2B), transcript variant 1, mRNA.											breast(1)|haematopoietic_and_lymphoid_tissue(21)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(5;0.00011)|Epithelial(12;0.00412)			CTGACCTCCGCCCTTCCGTCG	0.662000														20			10		9.70103e-10	1.16071e-09	1	1	0
USP25	29761	broad.mit.edu	37	21	17246800	17246800	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:17246800A>G	uc011aby.1	+	23	3181	c.2964A>G	c.(2962-2964)ggA>ggG	p.G988G	USP25_uc002yjz.1_Silent_p.G950G|USP25_uc010gla.1_Silent_p.G313G|USP25_uc002yjy.1_Silent_p.G918G	NM_013396	NP_037528	Q9UHP3	UBP25_HUMAN	Homo sapiens ubiquitin specific peptidase 25 (USP25), mRNA.	918					protein modification process|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		TATACAGAGGACATGATGAAG	0.313000														63			56		0	0	1	0	0
WDR7	23335	broad.mit.edu	37	18	54424107	54424107	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:54424107T>C	uc002lgk.1	+	14	2494	c.2283T>C	c.(2281-2283)gaT>gaC	p.D761D	WDR7_uc010dpk.1_Non-coding_Transcript|WDR7_uc002lgl.1_Silent_p.D761D	NM_015285	NP_056100	Q9Y4E6	WDR7_HUMAN	Homo sapiens WD repeat domain 7 (WDR7), transcript variant 1, mRNA.	761										NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		TCCTTGATGATGAAGAGGAGG	0.413000														46			5		0	0	1	0	0
SPAG17	200162	broad.mit.edu	37	1	118642422	118642422	+	Splice_Site	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:118642422G>A	uc001ehk.2	-	6	703	c.635_splice	c.e6-1	p.D212_splice		NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	Homo sapiens sperm associated antigen 17 (SPAG17), mRNA.	212						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		CTGGCTCATCGTCTGTTCAAA	0.398000														25			19		0	0	1	0	0
NCOA7	135112	broad.mit.edu	37	6	126210549	126210549	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:126210549C>A	uc003qai.3	+	8	1718	c.1349C>A	c.(1348-1350)gCt>gAt	p.A450D	NCOA7_uc010kes.3_Missense_Mutation_p.A450D|NCOA7_uc003qae.4_Missense_Mutation_p.A450D|NCOA7_uc010ket.3_Missense_Mutation_p.A335D|NCOA7_uc003qah.3_Missense_Mutation_p.A439D	NM_181782	NP_861447	Q8NI08	NCOA7_HUMAN	Homo sapiens nuclear receptor coactivator 7 (NCOA7), transcript variant 1, mRNA.	450					cell wall macromolecule catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(2)	39				UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)		CGAAAGAAAGCTGAGTCACAA	0.458000														31			26		4.59853e-10	5.52125e-10	1	1	0
KIAA1161	57462	broad.mit.edu	37	9	34372844	34372844	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:34372844G>A	uc003zue.4	-	2	262	c.95C>T	c.(94-96)gCa>gTa	p.A32V		NM_020702	NP_065753	Q6NSJ0	K1161_HUMAN	Homo sapiens KIAA1161 (KIAA1161), mRNA.	33					carbohydrate metabolic process	integral to membrane	hydrolase activity, hydrolyzing O-glycosyl compounds			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)		GTACATAGCTGCGGCTGCGAT	0.647000														96			9		0	0	1	0	0
HERC4	26091	broad.mit.edu	37	10	69804316	69804316	+	Missense_Mutation	SNP	C	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:69804316C>G	uc001jng.4	-	3	542	c.231G>C	c.(229-231)caG>caC	p.Q77H	HERC4_uc001jnf.4_Non-coding_Transcript|HERC4_uc001jnh.4_Missense_Mutation_p.Q77H|HERC4_uc009xpr.3_Missense_Mutation_p.Q77H|HERC4_uc001jni.4_Intron	NM_022079	NP_071362	Q5GLZ8	HERC4_HUMAN	Homo sapiens hect domain and RLD 4 (HERC4), transcript variant 1, mRNA.	77					cell differentiation|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis	cytosol	ubiquitin-protein ligase activity			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	27						GGGCAACAACCTGCTCTACAG	0.393000														90			9		0	0	1	0	0
SEC24C	9632	broad.mit.edu	37	10	75525889	75525889	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:75525889G>A	uc001juw.3	+	11	1708	c.1528G>A	c.(1528-1530)Gtc>Atc	p.V510I	SEC24C_uc010qkn.2_Intron|SEC24C_uc009xrj.2_Missense_Mutation_p.V368I|SEC24C_uc001jux.3_Missense_Mutation_p.V510I|SEC24C_uc010qko.2_Missense_Mutation_p.V391I|SEC24C_uc010qkp.2_Intron|SEC24C_uc010qkq.2_Intron	NM_004922	NP_940999	P53992	SC24C_HUMAN	Homo sapiens SEC24 family, member C (S. cerevisiae) (SEC24C), transcript variant 1, mRNA.	510					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|Golgi membrane|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					CATGATTGACGTCTCCTACAA	0.488000														71			34		0	0	1	0	0
CARD14	79092	broad.mit.edu	37	17	78163620	78163620	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:78163620C>T	uc002jxw.1	+	5	1106	c.912C>T	c.(910-912)cgC>cgT	p.R304R	CARD14_uc002jxt.1_Non-coding_Transcript|CARD14_uc002jxv.3_Silent_p.R304R|CARD14_uc010wud.1_Non-coding_Transcript|CARD14_uc002jxx.3_Silent_p.R67R|CARD14_uc010dhu.1_Silent_p.R102R	NM_024110	NP_077015	Q9BXL6	CAR14_HUMAN	Homo sapiens caspase recruitment domain family, member 14 (CARD14), transcript variant 1, mRNA.	304					activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis	aggresome|cytoplasm|plasma membrane	CARD domain binding			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1)	23	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			TGGTGGAGCGCATCCACTCGC	0.682000														19			9		0	0	1	0	0
DIO2	1734	broad.mit.edu	37	14	80669274	80669274	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:80669274C>T	uc021rxa.1	-	2	741	c.688G>A	c.(688-690)Gca>Aca	p.A230T	DIO2_uc001xut.3_3'UTR|DIO2_uc010asx.3_3'UTR|DIO2_uc021rxb.1_Missense_Mutation_p.A194T|DIO2_uc010asy.3_Missense_Mutation_p.A194T	NM_001007023		Q92813	IOD2_HUMAN	Homo sapiens deiodinase, iodothyronine, type II (DIO2), transcript variant 3, mRNA.	194					hormone biosynthetic process|selenocysteine incorporation|thyroid hormone generation	integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(14)|skin(1)|stomach(1)	25				BRCA - Breast invasive adenocarcinoma(234;0.0281)		TGCTGGGCTGCTGCACATCGA	0.557000											OREG0022848	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		40			22		0	0	1	0	0
RBMXL1	494115	broad.mit.edu	37	1	89448756	89448756	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:89448756G>A	uc021opo.1	-	0	754	c.754C>T	c.(754-756)Cgt>Tgt	p.R252C	CCBL2_uc001dmp.2_Intron|CCBL2_uc001dmq.2_Intron|CCBL2_uc001dmr.2_Intron|RBMXL1_uc009wcx.3_Missense_Mutation_p.R252C|RBMXL1_uc001dms.3_Missense_Mutation_p.R252C	NM_019610	NP_062556	Q96E39	RBMXL_HUMAN	Homo sapiens RNA binding motif protein, X-linked-like 1 (RBMXL1), transcript variant 2, mRNA.	252							RNA binding|nucleotide binding										TAGTCATCACGTGAACTGGAA	0.433000														74			133		0	0	1	0	0
GPC5	2262	broad.mit.edu	37	13	92797193	92797193	+	Silent	SNP	C	T	T	rs147244156		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:92797193C>T	uc010tif.2	+	6	1878	c.1512C>T	c.(1510-1512)tgC>tgT	p.C504C		NM_004466	NP_004457	P78333	GPC5_HUMAN	Homo sapiens glypican 5 (GPC5), mRNA.	504						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				AAGATGGTTGCGGGGGATCAG	0.443000														37			11		0	0	1	0	0
PRMT2	3275	broad.mit.edu	37	21	48063522	48063522	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:48063522G>A	uc002zjx.3	+	3	449	c.115G>A	c.(115-117)Gcg>Acg	p.A39T	PRMT2_uc021wkc.1_Missense_Mutation_p.A39T|PRMT2_uc002zjw.3_Missense_Mutation_p.A39T|PRMT2_uc002zjy.3_Missense_Mutation_p.A39T|PRMT2_uc010gqm.3_Missense_Mutation_p.A39T|PRMT2_uc011aga.2_Missense_Mutation_p.A39T|PRMT2_uc011agb.2_Missense_Mutation_p.A39T|PRMT2_uc011agc.2_Missense_Mutation_p.A39T|PRMT2_uc002zjz.1_5'UTR	NM_206962	NP_996845	P55345	ANM2_HUMAN	Homo sapiens protein arginine methyltransferase 2 (PRMT2), transcript variant 1, mRNA.	39	SH3.				developmental cell growth|induction of apoptosis|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of androgen receptor signaling pathway	cytosol|nucleus	androgen receptor binding|estrogen receptor binding|histone-arginine N-methyltransferase activity|peroxisome proliferator activated receptor binding|progesterone receptor binding|protein homodimerization activity|retinoic acid receptor binding|signal transducer activity|thyroid hormone receptor binding|transcription coactivator activity			NS(1)|breast(3)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	Breast(49;0.247)	Lung NSC(3;0.245)		Epithelial(3;1.03e-07)|OV - Ovarian serous cystadenocarcinoma(3;4.68e-07)|all cancers(3;7.48e-07)|Colorectal(79;0.167)|Lung(125;0.203)|LUSC - Lung squamous cell carcinoma(216;0.23)|READ - Rectum adenocarcinoma(84;0.248)		TGTGGCCATCGCGGACTACGC	0.537000														51			36		0	0	1	0	0
SPOCK2	9806	broad.mit.edu	37	10	73828040	73828040	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:73828040G>A	uc001jso.2	-	5	939	c.494C>T	c.(493-495)gCg>gTg	p.A165V	ANAPC16_uc021psn.1_Intron|SPOCK2_uc001jsp.3_Missense_Mutation_p.A165V	NM_001244950	NP_001231879	Q92563	TICN2_HUMAN	Homo sapiens sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 2 (SPOCK2), transcript variant 3, mRNA.	165	Kazal-like.				extracellular matrix organization|regulation of cell differentiation|signal transduction|synapse assembly	proteinaceous extracellular matrix	calcium ion binding			endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						GCTCAGGCACGCCTGTTGCTC	0.667000														7			6		0	0	1	0	0
PKP2	5318	broad.mit.edu	37	12	33030843	33030843	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:33030843G>T	uc001rlj.4	-	2	1086	c.971C>A	c.(970-972)gCg>gAg	p.A324E	PKP2_uc001rlk.4_Missense_Mutation_p.A324E|PKP2_uc010skj.2_Missense_Mutation_p.A324E	NM_004572	NP_004563	Q99959	PKP2_HUMAN	Homo sapiens plakophilin 2 (PKP2), transcript variant 2b, mRNA.	324					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					CCCTGCGGCCGCCTGGCCGAC	0.622000														18			17		2.48551e-13	3.09088e-13	1	1	0
ULBP3	79465	broad.mit.edu	37	6	150387291	150387291	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:150387291G>A	uc003qns.3	-	1	177	c.96C>T	c.(94-96)caC>caT	p.H32H	ULBP3_uc011eej.1_5'Flank|ULBP3_uc011eek.1_Intron	NM_024518	NP_078794	Q9BZM4	N2DL3_HUMAN	Homo sapiens UL16 binding protein 3 (ULBP3), mRNA.	32	MHC class I alpha-1 like.				antigen processing and presentation|immune response|natural killer cell activation	MHC class I protein complex|anchored to membrane	MHC class I receptor activity			central_nervous_system(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	9		Ovarian(120;0.12)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.45e-12)		ACCAGAGAGAGTGAGCGTCTA	0.488000														23			18		0	0	1	0	0
VPS41	27072	broad.mit.edu	37	7	38902182	38902182	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:38902182A>G	uc003tgy.3	-	3	235	c.209T>C	c.(208-210)cTt>cCt	p.L70P	VPS41_uc003tgz.3_Missense_Mutation_p.L70P|VPS41_uc010kxn.3_Missense_Mutation_p.L70P	NM_014396	NP_055211	P49754	VPS41_HUMAN	Homo sapiens vacuolar protein sorting 41 homolog (S. cerevisiae) (VPS41), transcript variant 1, mRNA.	70					Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	Golgi-associated vesicle|HOPS complex|cytosol|membrane fraction	zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						CTGGACATCAAGTAAATAAAC	0.308000														74			8		0	0	1	0	0
GRM5	2915	broad.mit.edu	37	11	88242657	88242657	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:88242657G>A	uc001pcq.3	-	8	2942	c.2742C>T	c.(2740-2742)tcC>tcT	p.S914S	GRM5_uc009yvm.3_Silent_p.S882S	NM_001143831	NP_001137303	P41594	GRM5_HUMAN	Homo sapiens glutamate receptor, metabotropic 5 (GRM5), transcript variant a, mRNA.	914					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	CCCACGTGACGGATTTTCCAT	0.587000														25			13		0	0	1	0	0
ADCY9	115	broad.mit.edu	37	16	4029188	4029188	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:4029188C>T	uc002cvx.3	-	7	3147	c.2608G>A	c.(2608-2610)Gcc>Acc	p.A870T		NM_001116	NP_001107	O60503	ADCY9_HUMAN	Homo sapiens adenylate cyclase 9 (ADCY9), mRNA.	870					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	ATP binding|adenylate cyclase activity|metal ion binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						ACCAGGATGGCCCCGATGCAG	0.582000														35			19		0	0	1	0	0
RPL5	6125	broad.mit.edu	37	1	93301914	93301914	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:93301914G>T	uc001doz.3	+	4	570	c.492G>T	c.(490-492)aaG>aaT	p.K164N	FAM69A_uc001dpc.3_Intron|RPL5_uc001dpa.3_Non-coding_Transcript|RPL5_uc001dpb.3_Missense_Mutation_p.K114N|RPL5_uc001dpd.3_5'UTR|SNORD21_uc001dpe.2_5'Flank|SNORA66_uc021opt.1_5'Flank	NM_000969	NP_000960	P46777	RL5_HUMAN	Homo sapiens ribosomal protein L5 (RPL5), mRNA.	164					endocrine pancreas development|rRNA processing|ribosomal large subunit biogenesis|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	5S rRNA binding|protein binding|structural constituent of ribosome			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)		GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927)		GTGCCCTGAAGGGAGCTGTGG	0.483000														125			8		3.09899e-07	3.55757e-07	1	1	0
SLCO4C1	353189	broad.mit.edu	37	5	101585411	101585411	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:101585411T>C	uc003knm.3	-	8	1838	c.1551A>G	c.(1549-1551)ggA>ggG	p.G517G		NM_180991	NP_851322	Q6ZQN7	SO4C1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 4C1 (SLCO4C1), mRNA.	517	Kazal-like.				cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		GGACTCCATCTCCACAGACAG	0.413000														43			6		0	0	1	0	0
CLIP2	7461	broad.mit.edu	37	7	73814804	73814804	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:73814804C>T	uc003uam.3	+	14	3312	c.2985C>T	c.(2983-2985)gaC>gaT	p.D995D	CLIP2_uc003uan.3_Silent_p.D960D	NM_003388	NP_003379	Q9UDT6	CLIP2_HUMAN	Homo sapiens CAP-GLY domain containing linker protein 2 (CLIP2), transcript variant 1, mRNA.	995						microtubule associated complex				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						GCACGGAGGACGCCCTGCGGG	0.657000														24			14		0	0	1	0	0
HHAT	55733	broad.mit.edu	37	1	210578008	210578008	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:210578008G>A	uc010psr.2	+	4	777	c.672G>A	c.(670-672)tcG>tcA	p.S224S	HHAT_uc009xcx.3_Silent_p.S223S|HHAT_uc010psq.2_Intron|HHAT_uc009xcy.3_Silent_p.S158S|HHAT_uc010pss.2_Silent_p.S178S|HHAT_uc010pst.2_Silent_p.S160S|HHAT_uc001hhz.4_Silent_p.S223S|HHAT_uc021pip.1_Silent_p.S223S|HHAT_uc010psu.2_Silent_p.S158S	NM_001170587	NP_001164058	Q5VTY9	HHAT_HUMAN	Homo sapiens hedgehog acyltransferase (HHAT), transcript variant 5, mRNA.	223					multicellular organismal development	endoplasmic reticulum membrane|integral to membrane	GTP binding			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)		TCAGCTTCTCGGAGTTCATCA	0.512000														41			18		0	0	1	0	0
GTPBP2	54676	broad.mit.edu	37	6	43590374	43590374	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:43590374C>T	uc003ovs.3	-	9	1500	c.1463G>A	c.(1462-1464)cGc>cAc	p.R488H	GTPBP2_uc010jyv.3_Missense_Mutation_p.R400H	NM_019096	NP_061969	Q9BX10	GTPB2_HUMAN	Homo sapiens GTP binding protein 2 (GTPBP2), mRNA.	488							GTP binding|GTPase activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(18;9.36e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000501)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			CCTCACCTTGCGAAGCAGTGC	0.572000														80			37		0	0	1	0	0
SEPP1	6414	broad.mit.edu	37	5	42801186	42801186	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:42801186C>T	uc011cps.2	-	5	970	c.872G>A	c.(871-873)cGa>cAa	p.R291Q	CCDC152_uc003jmx.3_3'UTR|CCDC152_uc011cpr.1_3'UTR|SEPP1_uc011cpt.2_Missense_Mutation_p.R261Q|SEPP1_uc011cpu.2_Missense_Mutation_p.R261Q|SEPP1_uc003jna.3_Non-coding_Transcript	NM_001093726		P49908	SEPP1_HUMAN	Homo sapiens selenoprotein P, plasma, 1 (SEPP1), transcript variant 3, mRNA.	261					response to oxidative stress	extracellular region	selenium binding			kidney(10)|large_intestine(1)|lung(4)	15						TGGCATATCTCGGTTCTCTGG	0.458000														17			15		0	0	1	0	0
LPHN2	23266	broad.mit.edu	37	1	82451005	82451005	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:82451005A>G	uc001dit.4	+	19	3604	c.3423A>G	c.(3421-3423)tcA>tcG	p.S1141S	LPHN2_uc001dis.3_Intron|LPHN2_uc001diu.3_Silent_p.S1141S|LPHN2_uc001div.3_Silent_p.S1141S|LPHN2_uc009wcd.3_Intron|LPHN2_uc001diw.3_Silent_p.S725S	NM_012302	NP_036434	O95490	LPHN2_HUMAN	Homo sapiens latrophilin 2 (LPHN2), mRNA.	1154					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	p.S1141L(1)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		CTTTTATCTCAGGTGACATCA	0.294000														92			7		0	0	1	0	0
LPHN3	23284	broad.mit.edu	37	4	62758588	62758588	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:62758588C>T	uc010ihh.3	+	6	1664	c.1491C>T	c.(1489-1491)agC>agT	p.S497S	LPHN3_uc003hcq.4_Silent_p.S497S|LPHN3_uc003hcs.1_Silent_p.S326S	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN	Homo sapiens latrophilin 3 (LPHN3), mRNA.	497					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						TCGAAGAGAGCTGTGAGGCTG	0.517000														19			11		0	0	1	0	0
CALCOCO1	57658	broad.mit.edu	37	12	54118439	54118439	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:54118439G>A	uc001sef.3	-	2	393	c.249C>T	c.(247-249)gtC>gtT	p.V83V	CALCOCO1_uc010som.2_Silent_p.V83V|CALCOCO1_uc010son.2_Intron|CALCOCO1_uc009znd.3_Silent_p.V83V|CALCOCO1_uc001seg.3_5'UTR|CALCOCO1_uc001seh.2_Silent_p.V83V|CALCOCO1_uc010soo.1_Silent_p.V83V	NM_020898	NP_065949	Q9P1Z2	CACO1_HUMAN	Homo sapiens calcium binding and coiled-coil domain 1 (CALCOCO1), transcript variant 1, mRNA.	83	N-terminal AD (CTNNB1 binding site) (By similarity).				Wnt receptor signaling pathway|steroid hormone receptor signaling pathway|transcription, DNA-dependent	cytoplasm	armadillo repeat domain binding|beta-catenin binding|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|sequence-specific DNA binding|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	28						CTTGGAACTGGACACTGGTGT	0.488000														15			4		0	0	1	0	0
CNOT1	23019	broad.mit.edu	37	16	58575424	58575424	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:58575424A>C	uc002env.3	-	33	5074	c.4781T>G	c.(4780-4782)tTt>tGt	p.F1594C	CNOT1_uc002enw.3_Non-coding_Transcript|CNOT1_uc002enu.4_Missense_Mutation_p.F1589C|CNOT1_uc010vik.2_Missense_Mutation_p.F551C	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 1 (CNOT1), transcript variant 1, mRNA.	1594					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		CTGGGCTAAAAATCCCGTGGG	0.383000														116			15		0	0	1	0	0
MYF6	4618	broad.mit.edu	37	12	81101660	81101660	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:81101660C>T	uc001szf.2	+	0	253	c.162C>T	c.(160-162)agC>agT	p.S54S		NM_002469	NP_002460	P23409	MYF6_HUMAN	Homo sapiens myogenic factor 6 (herculin) (MYF6), mRNA.	54					muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1)	26						AAGCGGGGAGCGACAGCAGCG	0.622000														31			22		0	0	1	0	0
FAM113B	91523	broad.mit.edu	37	12	47629976	47629976	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:47629976C>A	uc001rpq.3	+	1	1655	c.1130C>A	c.(1129-1131)cCt>cAt	p.P377H	FAM113B_uc001rpn.3_Missense_Mutation_p.P377H|FAM113B_uc021qxi.1_Missense_Mutation_p.P377H	NM_138371	NP_612380	Q96HM7	F113B_HUMAN	Homo sapiens family with sequence similarity 113, member B (FAM113B), mRNA.	377	Pro-rich.						hydrolase activity			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(10)	35	Renal(347;0.138)|Lung SC(27;0.192)					ATGGTTGGTCCTCAGCTGCCT	0.532000														62			19		4.96729e-08	5.78267e-08	1	1	0
FHOD3	80206	broad.mit.edu	37	18	34092484	34092484	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:34092484C>T	uc021uiv.1	+	4	586	c.489C>T	c.(487-489)aaC>aaT	p.N163N	FHOD3_uc002kzr.1_Silent_p.N163N|FHOD3_uc002kzs.1_Silent_p.N163N|FHOD3_uc002kzt.1_Silent_p.N163N	NM_025135	NP_079411	Q2V2M9	FHOD3_HUMAN	Homo sapiens formin homology 2 domain containing 3 (FHOD3), mRNA.	163	GBD/FH3.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				CTGATCAGAACTATCAGAACT	0.493000														21			8		0	0	1	0	0
SUFU	51684	broad.mit.edu	37	10	104386977	104386977	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:104386977G>A	uc001kvy.2	+	10	1533	c.1342G>A	c.(1342-1344)Gaa>Aaa	p.E448K	SUFU_uc009xxe.2_Non-coding_Transcript|SUFU_uc009xxf.2_Non-coding_Transcript	NM_016169	NP_057253	Q9UMX1	SUFU_HUMAN	Homo sapiens suppressor of fused homolog (Drosophila) (SUFU), transcript variant 1, mRNA.	448					negative regulation of transcription from RNA polymerase II promoter|proteolysis|skeletal system development	cytoplasm|nucleus	identical protein binding|protein binding|signal transducer activity|transcription corepressor activity|transcription factor binding			breast(2)|central_nervous_system(7)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	24		Colorectal(252;0.207)		Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242)		GGAGGATTTAGAAGATTTGAC	0.423000			"""D, F, S"""		medulloblastoma	medulloblastoma			Medulloblastoma, associated with Germline SUFU Mutation					106			53		0	0	1	0	0
PCDHB14	56122	broad.mit.edu	37	5	140603415	140603415	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140603415C>A	uc003ljb.3	+	0	338	c.338C>A	c.(337-339)cCt>cAt	p.P113H		NM_018934	NP_061757	Q9Y5E9	PCDBE_HUMAN	Homo sapiens protocadherin beta 14 (PCDHB14), mRNA.	113	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTGGAAAACCCTTTACAGTTT	0.428000														139			11		7.03913e-09	8.30711e-09	1	1	0
B4GALT6	9331	broad.mit.edu	37	18	29205652	29205652	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:29205652T>G	uc002kwz.4	-	8	1371	c.1074A>C	c.(1072-1074)aaA>aaC	p.K358N	B4GALT6_uc010dma.3_Missense_Mutation_p.K319N|B4GALT6_uc010dmb.3_Missense_Mutation_p.K319N|B4GALT6_uc002kwy.4_Non-coding_Transcript	NM_004775	NP_004766	Q9UBX8	B4GT6_HUMAN	Homo sapiens UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 6 (B4GALT6), mRNA.	358					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(6)|pancreas(1)	20			OV - Ovarian serous cystadenocarcinoma(10;0.00791)			CAACCAGTATTTTTGGCCTAT	0.353000														52			42		0	0	1	0	0
PRRC2C	23215	broad.mit.edu	37	1	171510589	171510589	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:171510589C>T	uc010pmg.2	+	15	4244	c.3978C>T	c.(3976-3978)gaC>gaT	p.D1326D	PRRC2C_uc010pmh.2_Silent_p.D303D	NM_015172	NP_055987	Q9Y520	PRC2C_HUMAN	Homo sapiens proline-rich coiled-coil 2C (PRRC2C), mRNA.	1326							protein C-terminus binding										TAAGGGATGACGATAAAGCTA	0.448000														33			5		0	0	1	0	0
SERTAD2	9792	broad.mit.edu	37	2	64863790	64863790	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:64863790G>T	uc021viq.1	-	0	216	c.216C>A	c.(214-216)atC>atA	p.I72I	SERTAD2_uc002sde.2_Silent_p.I72I	NM_014755	NP_055570	Q14140	SRTD2_HUMAN	Homo sapiens SERTA domain containing 2 (SERTAD2), mRNA.	72	SERTA.				negative regulation of cell growth|transcription, DNA-dependent	cytoplasm|nucleus				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|skin(1)	12						GTTCCTCCTGGATCCGCCTCA	0.557000														74			6		0.0381472	0.0388409	1	1	0
ZCCHC11	23318	broad.mit.edu	37	1	52903911	52903911	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:52903911C>T	uc001cty.2	-	24	4172	c.3919G>A	c.(3919-3921)Gac>Aac	p.D1307N	ZCCHC11_uc001ctx.2_Missense_Mutation_p.D1307N|ZCCHC11_uc009vze.1_Missense_Mutation_p.D1307N	NM_001009881	NP_001009881	Q5TAX3	TUT4_HUMAN	Homo sapiens zinc finger, CCHC domain containing 11 (ZCCHC11), transcript variant 1, mRNA.	1307					RNA 3'-end processing|miRNA catabolic process|pre-miRNA processing|stem cell maintenance	cytoplasm|nucleolus	RNA uridylyltransferase activity|nucleic acid binding|protein binding|zinc ion binding			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						TTAGGGCAGTCTTTCATGTAG	0.368000														84			59		0	0	1	0	0
PNPLA6	10908	broad.mit.edu	37	19	7622065	7622065	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:7622065C>T	uc010xjq.2	+	28	3562	c.3322C>T	c.(3322-3324)Cgg>Tgg	p.R1108W	PNPLA6_uc002mgq.2_Missense_Mutation_p.R1060W|PNPLA6_uc010xjp.2_Missense_Mutation_p.R1033W|PNPLA6_uc002mgr.2_Missense_Mutation_p.R1060W|PNPLA6_uc002mgs.3_Missense_Mutation_p.R1098W	NM_001166111	NP_001159583	Q8IY17	PLPL6_HUMAN	Homo sapiens patatin-like phospholipase domain containing 6 (PNPLA6), transcript variant 1, mRNA.	1099	Patatin.				cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						CTCCCTGTGGCGGTACGTGCG	0.667000														28			13		0	0	1	0	0
DCHS1	8642	broad.mit.edu	37	11	6644437	6644437	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6644437C>T	uc001mem.1	-	20	8871	c.8470G>A	c.(8470-8472)Gaa>Aaa	p.E2824K	DCHS1_uc021qdb.1_5'Flank	NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	Homo sapiens dachsous 1 (Drosophila) (DCHS1), mRNA.	2824	Cadherin 27.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CGGGCACCTTCGGGCACTTGG	0.587000														7			4		0	0	1	0	0
ZNF418	147686	broad.mit.edu	37	19	58438335	58438335	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58438335T>G	uc002qqs.1	-	3	1506	c.1214A>C	c.(1213-1215)aAa>aCa	p.K405T	ZNF418_uc010yhn.1_Non-coding_Transcript|ZNF418_uc010yho.1_Missense_Mutation_p.K320T	NM_133460	NP_597717	Q8TF45	ZN418_HUMAN	Homo sapiens zinc finger protein 418 (ZNF418), mRNA.	405					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G404W(1)		cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)		ACTAAAAGATTTCCCACATTC	0.433000														88			51		0	0	1	0	0
IGLON5	402665	broad.mit.edu	37	19	51828610	51828610	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:51828610C>T	uc002pwc.2	+	3	402	c.402C>T	c.(400-402)cgC>cgT	p.R134R		NM_001101372	NP_001094842	A6NGN9	IGLO5_HUMAN	Homo sapiens IgLON family member 5 (IGLON5), mRNA.	134	Ig-like C2-type 2.					extracellular region		p.R134H(1)		large_intestine(5)|lung(6)|prostate(1)	12						TCCCTGCCCGCATTGTGAACA	0.647000														19			9		0	0	1	0	0
TMEM241	85019	broad.mit.edu	37	18	20950206	20950206	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:20950206C>T	uc002kuf.3	-	8	613	c.504G>A	c.(502-504)caG>caA	p.Q168Q	TMEM241_uc010xaq.2_Non-coding_Transcript|TMEM241_uc010xar.2_Intron|TMEM241_uc002kug.3_Non-coding_Transcript|TMEM241_uc002kuh.3_Intron	NM_032933	NP_116322	Q24JQ0	CR045_HUMAN	Homo sapiens transmembrane protein 241 (TMEM241), mRNA.	168						integral to membrane											TCTGGGACTTCTGTAGAATTT	0.428000														21			10		0	0	1	0	0
ABCC10	89845	broad.mit.edu	37	6	43416862	43416862	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:43416862C>A	uc003ouy.1	+	19	4338	c.4123C>A	c.(4123-4125)Ctg>Atg	p.L1375M	ABCC10_uc003ouz.1_Missense_Mutation_p.L1347M|ABCC10_uc010jyo.1_Missense_Mutation_p.L481M	NM_001198934	NP_001185863	Q5T3U5	MRP7_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 10 (ABCC10), transcript variant MRP7, mRNA.	1375	ABC transporter 2.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			GGATGGTGAGCTGGGTGAGGG	0.587000														68			8		1.58986e-06	1.80238e-06	1	1	0
NADSYN1	55191	broad.mit.edu	37	11	71209551	71209551	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:71209551C>T	uc001oqn.3	+	19	2173	c.2047C>T	c.(2047-2049)Cag>Tag	p.Q683*	NADSYN1_uc001oqo.3_Nonsense_Mutation_p.Q423*|NADSYN1_uc001oqp.3_Nonsense_Mutation_p.Q312*	NM_018161	NP_060631	Q6IA69	NADE_HUMAN	Homo sapiens NAD synthetase 1 (NADSYN1), mRNA.	683	Ligase (By similarity).				NAD biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|NAD+ synthase (glutamine-hydrolyzing) activity|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CTGGCCTTGGCAGTTTCGGTG	0.473000														67			6		0	0	1	0	0
FSIP2	401024	broad.mit.edu	37	2	186673090	186673090	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:186673090G>A	uc002upl.3	+	16	19324	c.19324G>A	c.(19324-19326)Gcc>Acc	p.A6442T	FSIP2_uc002upm.3_Intron	NM_173651	NP_775922			Homo sapiens fibrous sheath interacting protein 2 (FSIP2), mRNA.											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						AGAGGTGTTGGCCTTGTTCTT	0.338000														28			9		0	0	1	0	0
ITGB1	3688	broad.mit.edu	37	10	33218771	33218771	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:33218771A>G	uc001iws.4	-	3	491	c.355T>C	c.(355-357)Ttg>Ctg	p.L119L	ITGB1_uc001iwr.4_Silent_p.L119L|ITGB1_uc001iwt.4_Silent_p.L119L	NM_133376	NP_596867	P05556	ITB1_HUMAN	Homo sapiens integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12) (ITGB1), transcript variant 1E, mRNA.	119					axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response	cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma	identical protein binding|protein heterodimerization activity|receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Ovarian(717;1.34e-05)|Breast(68;0.0634)				CGCAAAACCAACTGCTGTGGT	0.423000														195			30		0	0	1	0	0
MFAP3	4238	broad.mit.edu	37	5	153432912	153432912	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:153432912C>A	uc010jib.2	+	2	947	c.728C>A	c.(727-729)cCt>cAt	p.P243H	MFAP3_uc011ddb.1_Missense_Mutation_p.P97H|MFAP3_uc003lvf.2_Missense_Mutation_p.P243H|MFAP3_uc021ygf.1_Missense_Mutation_p.P97H	NM_005927	NP_001128509	P55082	MFAP3_HUMAN	Homo sapiens microfibrillar-associated protein 3 (MFAP3), transcript variant 1, mRNA.	243						integral to membrane|plasma membrane				breast(1)|kidney(2)|large_intestine(1)|lung(2)|pancreas(1)	7	Renal(175;0.00488)	Lung NSC(249;0.00145)|all_lung(500;0.00226)|all_neural(177;0.122)|Breast(839;0.14)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)	OV - Ovarian serous cystadenocarcinoma(192;9.69e-06)|GBM - Glioblastoma multiforme(465;0.0201)		CCTCTTCCACCTCTTATTCTA	0.473000														70			8		1.12685e-05	1.25391e-05	1	1	0
MKI67	4288	broad.mit.edu	37	10	129910032	129910032	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:129910032A>G	uc001lke.3	-	10	2332	c.2137T>C	c.(2137-2139)Tct>Cct	p.S713P	MKI67_uc001lkf.3_Missense_Mutation_p.S353P|MKI67_uc009yav.1_Missense_Mutation_p.S288P|MKI67_uc009yaw.1_Intron	NM_002417	NP_002408	P46013	KI67_HUMAN	Homo sapiens antigen identified by monoclonal antibody Ki-67 (MKI67), transcript variant 1, mRNA.	713					cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GTACAAGGAGAGTTTGCGTGG	0.418000														57			42		0	0	1	0	0
GPRIN2	9721	broad.mit.edu	37	10	46999062	46999062	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:46999062C>T	uc001jec.3	+	2	317	c.182C>T	c.(181-183)gCc>gTc	p.A61V	GPRIN2_uc021ppt.1_Missense_Mutation_p.A61V	NM_014696	NP_055511	O60269	GRIN2_HUMAN	Homo sapiens G protein regulated inducer of neurite outgrowth 2 (GPRIN2), mRNA.	61										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						AGACCCCAGGCCCCGGAGGAA	0.697000														57			11		0	0	1	0	0
KIAA0408	9729	broad.mit.edu	37	6	127768259	127768259	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:127768259T>C	uc011ebs.2	-	4	1541	c.1205A>G	c.(1204-1206)cAt>cGt	p.H402R	KIAA0408_uc003qbc.3_Missense_Mutation_p.H402R|SOGA3_uc003qbd.3_3'UTR|KIAA0408_uc003qba.3_5'Flank|KIAA0408_uc003qbb.3_Missense_Mutation_p.H285R	NM_014702	NP_055517	Q6ZU52	K0408_HUMAN	Homo sapiens KIAA0408 (KIAA0408), mRNA.	402							protein binding			endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28				GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)		AAGATCAGGATGAGATTTAGC	0.438000														72			54		0	0	1	0	0
COPS7A	50813	broad.mit.edu	37	12	6838441	6838441	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:6838441C>A	uc001qqj.3	+	4	595	c.356C>A	c.(355-357)gCt>gAt	p.A119D	COPS7A_uc001qqh.3_Missense_Mutation_p.A119D|COPS7A_uc001qqi.3_Missense_Mutation_p.A119D|COPS7A_uc001qqn.4_Missense_Mutation_p.A119D	NM_001164094	NP_057403	Q9UBW8	CSN7A_HUMAN	Homo sapiens COP9 constitutive photomorphogenic homolog subunit 7A (Arabidopsis) (COPS7A), transcript variant 2, mRNA.	119	PCI.				cullin deneddylation	cytoplasm|signalosome				endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|ovary(1)|urinary_tract(1)	10						TTGCTGGAGGCTCTTGCCCTG	0.577000														81			9		1.12685e-05	1.25391e-05	1	1	0
CYSLTR2	57105	broad.mit.edu	37	13	49281518	49281518	+	Nonsense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:49281518G>T	uc010acw.1	+	1	855	c.565G>T	c.(565-567)Gag>Tag	p.E189*	CYSLTR2_uc010acx.1_Nonsense_Mutation_p.E189*|CYSLTR2_uc010acy.1_Nonsense_Mutation_p.E189*|CYSLTR2_uc010acz.1_Nonsense_Mutation_p.E189*|CYSLTR2_uc010ada.1_Nonsense_Mutation_p.E189*|CYSLTR2_uc010adb.1_Nonsense_Mutation_p.E189*|CYSLTR2_uc010adc.1_Nonsense_Mutation_p.E189*|CYSLTR2_uc010add.1_Nonsense_Mutation_p.E189*|CYSLTR2_uc001vck.2_Nonsense_Mutation_p.E189*|CYSLTR2_uc021rjl.1_Nonsense_Mutation_p.E189*	NM_020377	NP_065110	Q9NS75	CLTR2_HUMAN	Homo sapiens cysteinyl leukotriene receptor 2 (CYSLTR2), mRNA.	189					immune response	integral to membrane|plasma membrane				endometrium(2)|large_intestine(4)|lung(12)|skin(2)	20		all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787)		GBM - Glioblastoma multiforme(99;1.19e-09)	Nedocromil(DB00716)	ATCATGCTTAGAGCTGAATCT	0.468000														107			9		1.12685e-05	1.25391e-05	1	1	0
PTPRM	5797	broad.mit.edu	37	18	8069839	8069839	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:8069839C>T	uc002knn.4	+	7	1791	c.1288C>T	c.(1288-1290)Cga>Tga	p.R430*	PTPRM_uc010dkv.3_Nonsense_Mutation_p.R430*|PTPRM_uc010wzl.2_Nonsense_Mutation_p.R217*	NM_002845	NP_002836	P28827	PTPRM_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, M (PTPRM), transcript variant 2, mRNA.	430	Fibronectin type-III 2.				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				AGAACAAGTGCGAGAAGAAGT	0.443000														15			8		0	0	1	0	0
ODZ2	57451	broad.mit.edu	37	5	167674104	167674104	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:167674104C>A	uc010jjd.3	+	26	6133	c.6133C>A	c.(6133-6135)Ctc>Atc	p.L2045I	ODZ2_uc003lzr.4_Missense_Mutation_p.L1815I|ODZ2_uc003lzt.4_Missense_Mutation_p.L1418I|ODZ2_uc010jje.3_Missense_Mutation_p.L1309I	NM_001122679	NP_001116151			Homo sapiens odz, odd Oz/ten-m homolog 2 (Drosophila) (ODZ2), mRNA.											NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|lung(45)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(2)	122	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		GATGGTCAACCTCCAAAGTGG	0.532000														75			7		0.0381472	0.0388409	1	1	0
PLA2G5	5322	broad.mit.edu	37	1	20412576	20412576	+	Splice_Site	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:20412576G>A	uc001bcx.3	+	8	997	c.134_splice	c.e8-1	p.S45_splice	PLA2G5_uc001bcy.3_Splice_Site_p.S14_splice	NM_000929	NP_000920	P39877	PA2G5_HUMAN	Homo sapiens phospholipase A2, group V (PLA2G5), mRNA.	14					lipid catabolic process	extracellular region	calcium ion binding|calcium-dependent phospholipase A2 activity			NS(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000249)|Lung NSC(340;0.000287)|Breast(348;0.000812)|Ovarian(437;0.00328)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.22e-05)|BRCA - Breast invasive adenocarcinoma(304;8.15e-05)|Kidney(64;0.000184)|GBM - Glioblastoma multiforme(114;0.00089)|KIRC - Kidney renal clear cell carcinoma(64;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0652)		TATCTTCCAGGTGTGCCTGCT	0.572000														18			7		0	0	1	0	0
ROCK1	6093	broad.mit.edu	37	18	18586428	18586428	+	Missense_Mutation	SNP	C	T	T	rs141266099		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:18586428C>T	uc002kte.3	-	15	2710	c.1769G>A	c.(1768-1770)cGa>cAa	p.R590Q		NM_005406	NP_005397	Q13464	ROCK1_HUMAN	Homo sapiens Rho-associated, coiled-coil containing protein kinase 1 (ROCK1), mRNA.	590	Interaction with FHOD1.				Rho protein signal transduction|actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking	Golgi membrane|centriole|cytosol	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					CTCTAAAATTCGATTTCTCTC	0.403000														124			6		0	0	1	0	0
TMEM2	23670	broad.mit.edu	37	9	74345102	74345102	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:74345102C>A	uc011lsa.1	-	8	2381	c.1841G>T	c.(1840-1842)aGg>aTg	p.R614M	TMEM2_uc010mos.2_Missense_Mutation_p.R551M|TMEM2_uc011lsb.1_Non-coding_Transcript	NM_013390	NP_037522	Q9UHN6	TMEM2_HUMAN	Homo sapiens transmembrane protein 2 (TMEM2), transcript variant 1, mRNA.	614						integral to membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		CAAAGTATTCCTCTGTTCAAT	0.423000														53			7		8.12818e-05	8.84769e-05	1	1	0
IFT172	26160	broad.mit.edu	37	2	27676877	27676877	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:27676877C>A	uc002rku.3	-	32	3734	c.3683G>T	c.(3682-3684)aGa>aTa	p.R1228I	IFT172_uc010ezb.3_Non-coding_Transcript	NM_015662	NP_056477	Q9UG01	IF172_HUMAN	Homo sapiens intraflagellar transport 172 homolog (Chlamydomonas) (IFT172), mRNA.	1228					cilium assembly	cilium	binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					CAGGCCTGGTCTCTGGGCCCG	0.617000														55			22		9.57634e-11	1.16131e-10	1	1	0
BEND3	57673	broad.mit.edu	37	6	107390913	107390913	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:107390913C>T	uc003prs.2	-	4	2132	c.1482G>A	c.(1480-1482)ccG>ccA	p.P494P		NM_001080450	NP_001073919	Q5T5X7	BEND3_HUMAN	Homo sapiens BEN domain containing 3 (BEND3), mRNA.	494										central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						AGTCATCACGCGGGGGGTCGC	0.672000														25			6		0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38739966	38739966	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:38739966C>T	uc003ciq.3	-	26	4745	c.4745G>A	c.(4744-4746)cGc>cAc	p.R1582H		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	1582					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TCTGAGGATGCGGCCAATTCG	0.522000														56			41		0	0	1	0	0
ATXN7	6314	broad.mit.edu	37	3	63973901	63973901	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:63973901C>T	uc003dlv.3	+	8	1815	c.1262C>T	c.(1261-1263)aCg>aTg	p.T421M	ATXN7_uc003dlw.4_Missense_Mutation_p.T421M|ATXN7_uc021wzy.1_Missense_Mutation_p.T421M|ATXN7_uc011bfn.2_Missense_Mutation_p.T276M	NM_000333	NP_000324	O15265	ATX7_HUMAN	Homo sapiens ataxin 7 (ATXN7), transcript variant SCA7a, mRNA.	421	Pro-rich.				cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nuclear matrix|nucleolus	protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		CCTCCTAGAACGTCACAGGAG	0.537000														119			13		0	0	1	0	0
ZNF16	7564	broad.mit.edu	37	8	146156927	146156927	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:146156927G>A	uc003zet.3	-	3	1433	c.1246C>T	c.(1246-1248)Cgg>Tgg	p.R416W	ZNF16_uc003zeu.3_Missense_Mutation_p.R416W	NM_001029976	NP_008889	P17020	ZNF16_HUMAN	Homo sapiens zinc finger protein 16 (ZNF16), transcript variant 2, mRNA.	416					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1)	29	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)		TTGGAGACCCGACTGAAGGGC	0.517000														36			17		0	0	1	0	0
RDX	5962	broad.mit.edu	37	11	110124681	110124681	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:110124681G>A	uc009yxy.3	-	8	1259	c.949C>T	c.(949-951)Cag>Tag	p.Q317*	RDX_uc009yxx.1_Non-coding_Transcript|RDX_uc009yxz.3_Intron|RDX_uc009yya.3_Intron|RDX_uc001pku.3_Nonsense_Mutation_p.Q317*|RDX_uc010rwe.2_Nonsense_Mutation_p.Q181*	NM_002906	NP_002897	P35241	RADI_HUMAN	Homo sapiens radixin (RDX), mRNA.	317	Glu-rich.				actin filament capping	Golgi apparatus|cleavage furrow|cytoskeleton|extrinsic to membrane|nucleolus|plasma membrane	actin binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	18		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)		CTTTCCAACTGCTTCTGATGT	0.373000														45			35		0	0	1	0	0
CCDC88A	55704	broad.mit.edu	37	2	55544839	55544839	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:55544839A>G	uc002ryv.2	-	19	4302	c.3460T>C	c.(3460-3462)Tct>Cct	p.S1154P	CCDC88A_uc010ypa.1_Missense_Mutation_p.S1154P|CCDC88A_uc010yoz.1_Missense_Mutation_p.S1155P|CCDC88A_uc002ryu.2_Missense_Mutation_p.S437P|CCDC88A_uc002rys.3_Missense_Mutation_p.S140P|CCDC88A_uc002ryw.3_Missense_Mutation_p.S438P|CCDC88A_uc010fby.1_Missense_Mutation_p.S34P	NM_001135597	NP_001129069	Q3V6T2	GRDN_HUMAN	Homo sapiens coiled-coil domain containing 88A (CCDC88A), transcript variant 1, mRNA.	1155					DNA replication|TOR signaling cascade|activation of protein kinase B activity|cell migration|cellular membrane organization|lamellipodium assembly|microtubule cytoskeleton organization|regulation of DNA replication|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of neuron projection development	Golgi apparatus|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						TTGATCAGAGAATCATAGAGA	0.393000														124			13		0	0	1	0	0
TRIM45	80263	broad.mit.edu	37	1	117663672	117663672	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:117663672G>A	uc001egz.2	-	0	740	c.152C>T	c.(151-153)aCg>aTg	p.T51M	TRIM45_uc009whe.2_Missense_Mutation_p.T51M	NM_025188	NP_079464	Q9H8W5	TRI45_HUMAN	Homo sapiens tripartite motif containing 45 (TRIM45), transcript variant 1, mRNA.	51						cytoplasm|nucleus	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|prostate(1)	23	Lung SC(450;0.225)	all_cancers(81;0.000979)|all_lung(203;7.65e-05)|all_epithelial(167;0.000134)|Lung NSC(69;0.000389)		Lung(183;0.0537)|Colorectal(144;0.172)|LUSC - Lung squamous cell carcinoma(189;0.187)		CTCCAGACACGTGGTGCAAAC	0.562000														60			9		0	0	1	0	0
ZNF302	55900	broad.mit.edu	37	19	35175594	35175594	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:35175594C>T	uc002nvr.1	+	5	1047	c.784C>T	c.(784-786)Cgc>Tgc	p.R262C	ZNF302_uc002nvp.1_Missense_Mutation_p.R218C|ZNF302_uc002nvq.1_Missense_Mutation_p.R218C|ZNF302_uc002nvs.1_Missense_Mutation_p.R218C	NM_018443	NP_060913	Q9NR11	ZN302_HUMAN	Homo sapiens zinc finger protein 302 (ZNF302), transcript variant 1, mRNA.	297					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|large_intestine(2)|lung(2)|skin(1)	6	all_lung(56;6.16e-07)|Lung NSC(56;9.71e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			AATCCTCAGTCGCCACTGGAG	0.448000														63			47		0	0	1	0	0
TANC1	85461	broad.mit.edu	37	2	160027192	160027192	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:160027192C>T	uc002uag.3	+	9	1501	c.1227C>T	c.(1225-1227)ggC>ggT	p.G409G	TANC1_uc010fol.1_Silent_p.G303G|TANC1_uc010zcm.2_Silent_p.G401G|TANC1_uc010fom.1_Silent_p.G215G	NM_033394	NP_203752	Q9C0D5	TANC1_HUMAN	Homo sapiens tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1 (TANC1), transcript variant 1, mRNA.	409						cell junction|postsynaptic density|postsynaptic membrane	binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						AAAACAGAGGCGCGGTGGTGG	0.507000														29			28		0	0	1	0	0
TMEM51	55092	broad.mit.edu	37	1	15546060	15546060	+	Missense_Mutation	SNP	G	A	A	rs149266693		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:15546060G>A	uc001avw.4	+	3	1102	c.583G>A	c.(583-585)Gcc>Acc	p.A195T	TMEM51_uc010obk.2_Missense_Mutation_p.A195T|TMEM51_uc001avz.3_3'UTR|TMEM51_uc001avy.3_Missense_Mutation_p.A195T|TMEM51_uc001avx.3_Missense_Mutation_p.A195T	NM_001136216	NP_060492	Q9NW97	TMM51_HUMAN	Homo sapiens transmembrane protein 51 (TMEM51), transcript variant 1, mRNA.	195						integral to membrane				breast(1)|central_nervous_system(1)|cervix(3)|large_intestine(2)|lung(5)|prostate(2)	14		Renal(390;0.00145)|Breast(348;0.00186)|Colorectal(325;0.00215)|all_lung(284;0.00459)|Lung NSC(340;0.0104)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;2.07e-06)|COAD - Colon adenocarcinoma(227;7.14e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000175)|KIRC - Kidney renal clear cell carcinoma(229;0.00141)|STAD - Stomach adenocarcinoma(313;0.00644)|READ - Rectum adenocarcinoma(331;0.0751)		CTCTAAGTTGGCCAAACGACT	0.547000														37			32		0	0	1	0	0
GAL3ST4	79690	broad.mit.edu	37	7	99758203	99758203	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:99758203C>T	uc003utt.3	-	2	1826	c.809G>A	c.(808-810)cGc>cAc	p.R270H	C7orf43_uc011kjj.2_5'Flank|C7orf43_uc003utr.3_5'Flank|C7orf43_uc003uts.3_5'Flank|GAL3ST4_uc022aii.1_Missense_Mutation_p.R208H|GAL3ST4_uc003utu.3_Missense_Mutation_p.R270H	NM_024637	NP_078913	Q96RP7	G3ST4_HUMAN	Homo sapiens galactose-3-O-sulfotransferase 4 (GAL3ST4), mRNA.	270					cell-cell signaling|oligosaccharide metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane|membrane fraction	3'-phosphoadenosine 5'-phosphosulfate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(5)|prostate(1)|upper_aerodigestive_tract(1)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TATCTGGCTGCGATGATCAGT	0.557000														151			51		0	0	1	0	0
GRIK3	2899	broad.mit.edu	37	1	37271833	37271833	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:37271833G>A	uc001caz.2	-	13	2321	c.2186C>T	c.(2185-2187)gCc>gTc	p.A729V	GRIK3_uc001cba.1_Missense_Mutation_p.A729V	NM_000831	NP_000822	Q13003	GRIK3_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 3 (GRIK3), mRNA.	729					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	G-protein-coupled receptor binding|adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|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)	GGCCGTCAGGGCCCTCTGGAT	0.597000														54			24		0	0	1	0	0
MRPL14	64928	broad.mit.edu	37	6	44081861	44081861	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:44081861G>A	uc003owp.3	-	2	286	c.157C>T	c.(157-159)Cgg>Tgg	p.R53W		NM_032111	NP_115487	Q6P1L8	RM14_HUMAN	Homo sapiens mitochondrial ribosomal protein L14 (MRPL14), nuclear gene encoding mitochondrial protein, mRNA.	53					translation	mitochondrion|ribosome	structural constituent of ribosome			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	12	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0181)			CGAGGAGCCCGATGGTATGGG	0.552000														234			21		0	0	1	0	0
ELF4	2000	broad.mit.edu	37	X	129208064	129208064	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:129208064A>G	uc004evd.4	-	3	685	c.300T>C	c.(298-300)aaT>aaC	p.N100N	ELF4_uc004eve.4_Silent_p.N100N	NM_001421	NP_001412	Q99607	ELF4_HUMAN	Homo sapiens E74-like factor 4 (ets domain transcription factor) (ELF4), transcript variant 1, mRNA.	100	RUNX1-binding.				NK T cell proliferation|natural killer cell proliferation|positive regulation of transcription from RNA polymerase II promoter	PML body	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	22						GAGACTCCATATTGAGTAAGA	0.478000			T	ERG	AML									118			8		0	0	1	0	0
ARAP1	116985	broad.mit.edu	37	11	72408216	72408216	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:72408216C>T	uc001osu.3	-	21	3167	c.2978G>A	c.(2977-2979)cGc>cAc	p.R993H	ARAP1_uc001osv.3_Missense_Mutation_p.R993H|ARAP1_uc001osr.3_Missense_Mutation_p.R753H|ARAP1_uc001oss.3_Missense_Mutation_p.R748H|ARAP1_uc009yth.3_Missense_Mutation_p.R687H|ARAP1_uc010rre.2_Missense_Mutation_p.R748H	NM_001040118	NP_056057	Q96P48	ARAP1_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1 (ARAP1), transcript variant 3, mRNA.	993	Rho-GAP.				actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	Golgi cisterna membrane|cytosol|plasma membrane	ARF GTPase activator activity|Rho GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						CCCACACTTGCGGTAGATGCC	0.682000														55			5		0	0	1	0	0
GTSE1	51512	broad.mit.edu	37	22	46712304	46712304	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:46712304C>A	uc011aqy.2	+	6	1639	c.1427C>A	c.(1426-1428)tCt>tAt	p.S476Y	GTSE1_uc011aqz.2_Missense_Mutation_p.S323Y|GTSE1_uc003bhl.1_Missense_Mutation_p.S101Y|GTSE1_uc003bhm.1_Missense_Mutation_p.S101Y	NM_016426	NP_057510	Q9NYZ3	GTSE1_HUMAN	Homo sapiens G-2 and S-phase expressed 1 (GTSE1), mRNA.	457					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process	cytoplasmic microtubule		p.Q476E(1)|p.S457Y(1)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		CCTAAGTTTTCTATTGGTGAG	0.294000														83			61		4.48484e-38	5.9545e-38	1	1	0
IL10	3586	broad.mit.edu	37	1	206944381	206944381	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:206944381C>T	uc001hen.1	-	2	308	c.249G>A	c.(247-249)ttG>ttA	p.L83L		NM_000572	NP_000563	P22301	IL10_HUMAN	Homo sapiens interleukin 10 (IL10), mRNA.	83					B cell differentiation|B cell proliferation|anti-apoptosis|cytoplasmic sequestering of NF-kappaB|inflammatory response|leukocyte chemotaxis|negative regulation of B cell proliferation|negative regulation of MHC class II biosynthetic process|negative regulation of T cell proliferation|negative regulation of cytokine secretion involved in immune response|negative regulation of interferon-alpha biosynthetic process|negative regulation of interleukin-6 production|negative regulation of membrane protein ectodomain proteolysis|positive regulation of B cell apoptosis|positive regulation of cytokine secretion|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|receptor biosynthetic process|regulation of isotype switching|response to glucocorticoid stimulus|type 2 immune response	extracellular space	cytokine activity|growth factor activity|interleukin-10 receptor binding			endometrium(1)|large_intestine(6)|lung(4)|prostate(1)	12	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.211)			TCATCTCAGACAAGGCTTGGC	0.562000														72			7		0	0	1	0	0
CSRNP2	81566	broad.mit.edu	37	12	51467694	51467694	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:51467694C>T	uc021qxx.1	-	2	835	c.323G>A	c.(322-324)tGt>tAt	p.C108Y	CSRNP2_uc001rxu.2_Missense_Mutation_p.C108Y	NM_030809	NP_110436	Q9H175	CSRN2_HUMAN	Homo sapiens cysteine-serine-rich nuclear protein 2 (CSRNP2), transcript variant 1, mRNA.	108					apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	14						GGCAAACTCACAGAGTGTATA	0.537000														48			35		0	0	1	0	0
ABRA	137735	broad.mit.edu	37	8	107781845	107781845	+	Nonsense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:107781845C>A	uc003ymm.4	-	0	628	c.574G>T	c.(574-576)Gag>Tag	p.E192*		NM_139166	NP_631905	Q8N0Z2	ABRA_HUMAN	Homo sapiens actin-binding Rho activating protein (ABRA), mRNA.	192					positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport	actin cytoskeleton|plasma membrane|sarcomere	actin binding			breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			CCGCTGTCCTCTGTGTCTACG	0.602000														136			85		8.45761e-33	1.11842e-32	1	1	0
OR13F1	138805	broad.mit.edu	37	9	107267193	107267193	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:107267193C>A	uc011lvm.2	+	0	650	c.650C>A	c.(649-651)tCt>tAt	p.S217Y		NM_001004485	NP_001004485	Q8NGS4	O13F1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily F, member 1 (OR13F1), mRNA.	217					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						ATTTGTATCTCTTATGCATTT	0.458000														195			17		1.99824e-07	2.30332e-07	1	1	0
CCDC80	151887	broad.mit.edu	37	3	112337934	112337934	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:112337934G>A	uc003dzf.3	-	3	2271	c.2053C>T	c.(2053-2055)Cga>Tga	p.R685*	CCDC80_uc011bhv.2_Nonsense_Mutation_p.R685*|CCDC80_uc003dzg.3_Nonsense_Mutation_p.R685*|CCDC80_uc003dzh.1_Nonsense_Mutation_p.R685*	NM_199512	NP_955806	Q76M96	CCD80_HUMAN	Homo sapiens coiled-coil domain containing 80 (CCDC80), transcript variant 2, mRNA.	685										breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						TCCACCACTCGCATGGGCTTC	0.463000														36			6		0	0	1	0	0
HPS5	11234	broad.mit.edu	37	11	18313457	18313457	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:18313457C>A	uc001mod.1	-	15	2250	c.1972G>T	c.(1972-1974)Ggt>Tgt	p.G658C	HPS5_uc001moe.1_Missense_Mutation_p.G544C|HPS5_uc001mof.1_Missense_Mutation_p.G544C	NM_181507	NP_852609	Q9UPZ3	HPS5_HUMAN	Homo sapiens Hermansky-Pudlak syndrome 5 (HPS5), transcript variant 1, mRNA.	658						cytosol				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						TCTGAAACACCTGAAAAGTCC	0.353000									Hermansky-Pudlak syndrome					95			8		3.09899e-07	3.55757e-07	1	1	0
EN1	2019	broad.mit.edu	37	2	119600595	119600595	+	Silent	SNP	G	A	A	rs139806570		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:119600595G>A	uc002tlm.3	-	1	2114	c.1098C>T	c.(1096-1098)aaC>aaT	p.N366N		NM_001426	NP_001417	Q05925	HME1_HUMAN	Homo sapiens engrailed homeobox 1 (EN1), mRNA.	366					skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	9						GCGCCAGGCCGTTCTTGATGC	0.617000														17			19		0	0	1	0	0
ART1	417	broad.mit.edu	37	11	3681528	3681528	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:3681528G>A	uc001lye.1	+	2	880	c.779G>A	c.(778-780)gGc>gAc	p.G260D	ART1_uc009yeb.1_Missense_Mutation_p.G260D	NM_004314	NP_004305	P52961	NAR1_HUMAN	Homo sapiens ADP-ribosyltransferase 1 (ART1), mRNA.	260					protein ADP-ribosylation	anchored to membrane|integral to plasma membrane|sarcoplasmic reticulum membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity			endometrium(1)|large_intestine(2)|liver(1)|lung(3)|skin(1)	8		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195)	Becaplermin(DB00102)	CTGGCCCAGGGCCCCGCCCGC	0.612000														35			22		0	0	1	0	0
SLC7A4	6545	broad.mit.edu	37	22	21385780	21385780	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:21385780C>T	uc002zud.3	-	1	390	c.322G>A	c.(322-324)Gta>Ata	p.V108I	SLC7A4_uc002zue.3_Missense_Mutation_p.V108I	NM_004173	NP_004164	O43246	CTR4_HUMAN	Homo sapiens solute carrier family 7 (orphan transporter), member 4 (SLC7A4), mRNA.	108					cellular amino acid metabolic process	integral to membrane	basic amino acid transmembrane transporter activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(2)	18	all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	CCCATGGATACGTAGGTGAAC	0.627000														20			11		0	0	1	0	0
LRRC49	54839	broad.mit.edu	37	15	71341896	71341896	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:71341896G>A	uc010ukf.2	+	15	2327	c.2021G>A	c.(2020-2022)cGc>cAc	p.R674H	LRRC49_uc002asu.3_Missense_Mutation_p.R659H|LRRC49_uc002asx.3_Missense_Mutation_p.R625H|LRRC49_uc002asw.3_Missense_Mutation_p.R669H|LRRC49_uc002asy.3_Missense_Mutation_p.R375H|LRRC49_uc002asz.3_Missense_Mutation_p.R641H	NM_001199017	NP_001185946	Q8IUZ0	LRC49_HUMAN	Homo sapiens leucine rich repeat containing 49 (LRRC49), transcript variant 1, mRNA.	669						cytoplasm|microtubule		p.S673F(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						ATAGAAATTCGCAATAAAAAT	0.368000														66			42		0	0	1	0	0
ZNF354B	117608	broad.mit.edu	37	5	178310441	178310441	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:178310441C>T	uc003mjl.3	+	4	1214	c.988C>T	c.(988-990)Cca>Tca	p.P330S	ZNF354B_uc003mjm.3_Missense_Mutation_p.P330S	NM_058230	NP_478137	Q96LW1	Z354B_HUMAN	Homo sapiens zinc finger protein 354B (ZNF354B), mRNA.	330					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(7)|liver(2)|lung(2)|ovary(2)|stomach(3)|urinary_tract(1)	21	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TAAATACAATCCAGGCAGGAA	0.388000														54			21		0	0	1	0	0
DOCK6	57572	broad.mit.edu	37	19	11319682	11319682	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:11319682C>T	uc002mqs.4	-	37	4890	c.4849G>A	c.(4849-4851)Gcc>Acc	p.A1617T	DOCK6_uc002mqr.4_Missense_Mutation_p.A15T|DOCK6_uc010xlq.2_Missense_Mutation_p.A956T	NM_020812	NP_065863	Q96HP0	DOCK6_HUMAN	Homo sapiens dedicator of cytokinesis 6 (DOCK6), mRNA.	1617	DHR-2.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						ATGCACTGGGCGGCCTCGGCG	0.692000														7			3		0	0	1	0	0
GUCY2C	2984	broad.mit.edu	37	12	14805895	14805895	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:14805895G>A	uc001rcd.3	-	12	1661	c.1524C>T	c.(1522-1524)taC>taT	p.Y508Y		NM_004963	NP_004954	P25092	GUC2C_HUMAN	Homo sapiens guanylate cyclase 2C (heat stable enterotoxin receptor) (GUCY2C), mRNA.	508	Protein kinase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						CCTTTTTGTCGTATTTGCACT	0.478000														89			56		0	0	1	0	0
AADACL2	344752	broad.mit.edu	37	3	151474940	151474940	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:151474940C>A	uc003ezc.3	+	4	884	c.764C>A	c.(763-765)aCc>aAc	p.T255N	MIR548H2_uc021xgb.1_Intron|AADACL2_uc010hvn.3_Missense_Mutation_p.T42N	NM_207365	NP_997248	Q6P093	ADCL2_HUMAN	Homo sapiens arylacetamide deacetylase-like 2 (AADACL2), mRNA.	255						extracellular region|integral to membrane	carboxylesterase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2)	24			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			TTATATTTCACCAAGGATGAA	0.403000														103			48		5.57489e-27	7.31811e-27	1	1	0
DUSP12	11266	broad.mit.edu	37	1	161723043	161723043	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:161723043G>T	uc001gbo.3	+	4	864	c.853G>T	c.(853-855)Gat>Tat	p.D285Y		NM_007240	NP_009171	Q9UNI6	DUS12_HUMAN	Homo sapiens dual specificity phosphatase 12 (DUSP12), mRNA.	285					positive regulation of glucokinase activity	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|lung(1)	5	all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00634)			GGGAGTGATGGATGGACAGGT	0.358000														119			11		9.70103e-10	1.16071e-09	1	1	0
KCMF1	56888	broad.mit.edu	37	2	85262220	85262220	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:85262220C>T	uc002sox.4	+	2	610	c.266C>T	c.(265-267)aCg>aTg	p.T89M		NM_020122	NP_064507	Q9P0J7	KCMF1_HUMAN	Homo sapiens potassium channel modulatory factor 1 (KCMF1), mRNA.	89						intracellular	ligase activity|zinc ion binding			ovary(3)	3						ATGGGCTATACGGAGACATCT	0.378000														22			10		0	0	1	0	0
EFNA1	1942	broad.mit.edu	37	1	155103872	155103872	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155103872C>T	uc001fhh.3	+	1	255	c.150C>T	c.(148-150)atC>atT	p.I50I	EFNA1_uc001fhi.3_Silent_p.I50I|EFNA1_uc009wpd.1_5'Flank	NM_004428	NP_004419	P20827	EFNA1_HUMAN	Homo sapiens ephrin-A1 (EFNA1), transcript variant 1, mRNA.	50					angiogenesis|aortic valve morphogenesis|cell migration|cell-cell signaling|endocardial cushion to mesenchymal transition involved in heart valve formation|ephrin receptor signaling pathway|mitral valve morphogenesis|negative regulation of epithelial to mesenchymal transition|negative regulation of transcription from RNA polymerase II promoter|positive regulation of peptidyl-tyrosine phosphorylation|regulation of cell adhesion mediated by integrin|substrate adhesion-dependent cell spreading	extracellular region|integral to plasma membrane	ephrin receptor binding			breast(1)|endometrium(1)|kidney(1)|lung(1)|skin(1)	5	all_epithelial(22;4.71e-30)|all_lung(78;3.15e-27)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;2.28e-10)|all cancers(21;6.16e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000395)|LUSC - Lung squamous cell carcinoma(543;0.193)			TGGACATCATCTGTCCGCACT	0.537000														35			20		0	0	1	0	0
TANC2	26115	broad.mit.edu	37	17	61499143	61499143	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:61499143C>A	uc002jal.4	+	24	5823	c.5800C>A	c.(5800-5802)Ctc>Atc	p.L1934I	TANC2_uc010wpe.2_3'UTR|TANC2_uc002jao.4_Missense_Mutation_p.L1045I	NM_025185	NP_079461	Q9HCD6	TANC2_HUMAN	Homo sapiens tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 (TANC2), mRNA.	1934							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						TCGTGGAGACCTCTTGGAGCG	0.542000														49			6		0.0215528	0.0220531	1	1	0
CELSR3	1951	broad.mit.edu	37	3	48689349	48689349	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:48689349G>A	uc003cuf.1	-	13	6094	c.6094C>T	c.(6094-6096)Cgg>Tgg	p.R2032W	CELSR3_uc010hkg.3_5'UTR|CELSR3_uc003cul.3_Missense_Mutation_p.R1962W	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA.	1962	EGF-like 7; calcium-binding.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CAGAGGTCCCGGCAGTCTGCG	0.657000														67			37		0	0	1	0	0
IL23R	149233	broad.mit.edu	37	1	67724722	67724722	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:67724722G>A	uc001ddo.3	+	10	1886	c.1801G>A	c.(1801-1803)Gtg>Atg	p.V601M	IL23R_uc009waz.3_Missense_Mutation_p.V398M|IL23R_uc010opi.2_Non-coding_Transcript|IL23R_uc010opj.2_Missense_Mutation_p.V199M|IL23R_uc010opk.2_3'UTR|IL23R_uc010opl.2_Missense_Mutation_p.V183M|IL23R_uc010opm.2_Non-coding_Transcript|IL23R_uc001ddq.3_Missense_Mutation_p.V347M|IL23R_uc010opn.2_Missense_Mutation_p.V446M|IL23R_uc001ddr.3_Non-coding_Transcript|IL23R_uc010oqh.2_Missense_Mutation_p.V242M|IL23R_uc010oqf.2_Missense_Mutation_p.V199M|IL23R_uc010ops.2_Missense_Mutation_p.V398M|IL23R_uc010opt.2_Missense_Mutation_p.V242M|IL23R_uc010opu.2_Missense_Mutation_p.V297M|IL23R_uc010opv.2_Missense_Mutation_p.V359M|IL23R_uc010opw.2_Missense_Mutation_p.V236M|IL23R_uc010opx.2_Missense_Mutation_p.V242M|IL23R_uc010opy.2_Missense_Mutation_p.V368M|IL23R_uc010opz.2_Missense_Mutation_p.V242M|IL23R_uc010oqa.2_Missense_Mutation_p.V242M|IL23R_uc010oqb.2_Missense_Mutation_p.V430M|IL23R_uc010oqc.2_Missense_Mutation_p.V317M|IL23R_uc010oqd.2_Missense_Mutation_p.V236M|IL23R_uc010oqe.2_Missense_Mutation_p.V199M|IL23R_uc010oqg.2_Missense_Mutation_p.V199M|IL23R_uc001dds.3_Missense_Mutation_p.V346M|IL23R_uc001ddt.3_Missense_Mutation_p.V199M	NM_144701	NP_653302	Q5VWK5	IL23R_HUMAN	Homo sapiens interleukin 23 receptor (IL23R), mRNA.	601					inflammatory response|negative regulation of interleukin-10 production|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of interleukin-12 production|positive regulation of memory T cell differentiation|response to interferon-gamma|response to lipopolysaccharide	interleukin-23 receptor complex	receptor activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	21						TTTGGGGATCGTGAATGAGGA	0.403000														60			26		0	0	1	0	0
PCSK4	54760	broad.mit.edu	37	19	1487017	1487017	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:1487017G>A	uc002ltb.1	-	7	965	c.903C>T	c.(901-903)ggC>ggT	p.G301G	PCSK4_uc002lta.2_Silent_p.G113G	NM_017573	NP_060043	Q6UW60	PCSK4_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 4 (PCSK4), mRNA.	301	Catalytic (By similarity).				proteolysis	integral to membrane	serine-type endopeptidase activity			cervix(2)|endometrium(2)|kidney(1)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGTGCAGGCCGCCGTTGCCCG	0.706000														49			7		0	0	1	0	0
COPS7A	50813	broad.mit.edu	37	12	6833966	6833966	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:6833966C>T	uc001qqj.3	+	1	383	c.144C>T	c.(142-144)gaC>gaT	p.D48D	COPS7A_uc001qqh.3_Silent_p.D48D|COPS7A_uc001qqi.3_Silent_p.D48D|COPS7A_uc001qqn.4_Silent_p.D48D	NM_001164094	NP_057403	Q9UBW8	CSN7A_HUMAN	Homo sapiens COP9 constitutive photomorphogenic homolog subunit 7A (Arabidopsis) (COPS7A), transcript variant 2, mRNA.	48					cullin deneddylation	cytoplasm|signalosome				endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|ovary(1)|urinary_tract(1)	10						AACTGCTGGACATGCCCAATG	0.557000														23			14		0	0	1	0	0
DHX32	55760	broad.mit.edu	37	10	127548312	127548312	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:127548312C>A	uc001ljf.1	-	2	1200	c.709G>T	c.(709-711)Gtg>Ttg	p.V237L	DHX32_uc001ljg.1_Missense_Mutation_p.V237L|DHX32_uc009yam.1_Missense_Mutation_p.V73L	NM_018180	NP_060650	Q7L7V1	DHX32_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 32 (DHX32), mRNA.	237	Helicase ATP-binding.					mitochondrion|nucleus	ATP binding|helicase activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|stomach(1)	29		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				TTATTTTTCACTTCTATGACA	0.398000														124			8		2.52707e-12	3.1144e-12	1	1	0
LCA5	167691	broad.mit.edu	37	6	80196729	80196729	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:80196729G>A	uc003piy.3	-	8	2698	c.2086C>T	c.(2086-2088)Ctg>Ttg	p.L696L	LCA5_uc003pix.3_Silent_p.L696L	NM_181714	NP_859065	Q86VQ0	LCA5_HUMAN	Homo sapiens Leber congenital amaurosis 5 (LCA5), transcript variant 1, mRNA.	696					protein transport	cilium axoneme|microtubule basal body	protein binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	32		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)		BRCA - Breast invasive adenocarcinoma(397;0.0657)		AGTCATCTCAGTGCTACTTCT	0.279000														35			5		0	0	1	0	0
MICA	100507436	broad.mit.edu	37	6	31379113	31379113	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31379113C>T	uc003ntk.1	+	2	629	c.590C>T	c.(589-591)tCc>tTc	p.S197F	MICA_uc003rxz.1_Missense_Mutation_p.S59F|MICA_uc021yun.1_Missense_Mutation_p.S100F|MICA_uc021yuo.1_Missense_Mutation_p.S100F	NM_001177519	NP_001170990	Q29983	MICA_HUMAN	Homo sapiens MHC class I polypeptide-related sequence A (MICA), transcript variant 1 (allele MICA*00801), mRNA.	197					antigen processing and presentation|cytolysis|defense response to bacterium|defense response to virus|gamma-delta T cell activation|immune response to tumor cell|response to DNA damage stimulus|response to heat|stimulatory C-type lectin receptor signaling pathway	MHC class I protein complex|cell surface|cytoplasm|extracellular space|integral to plasma membrane	natural killer cell lectin-like receptor binding			breast(1)|endometrium(3)|kidney(1)	5		Ovarian(999;0.0253)				TATCTAGAATCCGGCGTAGTC	0.537000														2			4		0	0	1	0	0
NCOA7	135112	broad.mit.edu	37	6	126242113	126242113	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:126242113C>T	uc003qai.3	+	11	2638	c.2269C>T	c.(2269-2271)Cgc>Tgc	p.R757C	NCOA7_uc010kes.3_Missense_Mutation_p.R757C|NCOA7_uc003qae.4_Missense_Mutation_p.R757C|NCOA7_uc010ket.3_Missense_Mutation_p.R642C|NCOA7_uc003qah.3_Missense_Mutation_p.R746C|NCOA7_uc003qak.3_Missense_Mutation_p.R34C	NM_181782	NP_861447	Q8NI08	NCOA7_HUMAN	Homo sapiens nuclear receptor coactivator 7 (NCOA7), transcript variant 1, mRNA.	757					cell wall macromolecule catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(2)	39				UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)		AGAGGCAAAGCGCAGGAAGAG	0.453000														35			18		0	0	1	0	0
CRTC3	64784	broad.mit.edu	37	15	91136970	91136970	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:91136970G>T	uc002bpp.3	+	2	440	c.334G>T	c.(334-336)Gac>Tac	p.D112Y	CRTC3_uc002bpn.3_Intron|CRTC3_uc002bpo.3_Missense_Mutation_p.D112Y	NM_022769	NP_073606	Q6UUV7	CRTC3_HUMAN	Homo sapiens CREB regulated transcription coactivator 3 (CRTC3), transcript variant 1, mRNA.	112					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus			CRTC3/MAML2(26)	breast(1)|endometrium(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		BRCA - Breast invasive adenocarcinoma(143;0.0745)			AAGGTCTGGGGACAAGCCAGG	0.502000			T	MAML2	salivary gland mucoepidermoid									38			18		5.35267e-07	6.12308e-07	1	1	0
HEATR6	63897	broad.mit.edu	37	17	58121478	58121478	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:58121478A>G	uc002iyk.1	-	19	3009	c.2992T>C	c.(2992-2994)Tcc>Ccc	p.S998P	MIR4737_uc021uba.1_5'Flank|HEATR6_uc010ddk.1_Missense_Mutation_p.S537P|HEATR6_uc010wos.1_Missense_Mutation_p.S718P	NM_022070	NP_071353	Q6AI08	HEAT6_HUMAN	Homo sapiens HEAT repeat containing 6 (HEATR6), mRNA.	998							binding			NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			TAGGCCTGGGAGGTCCATGGG	0.532000														71			7		0	0	1	0	0
CYFIP1	23191	broad.mit.edu	37	15	22958208	22958208	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:22958208C>T	uc001yus.3	+	16	1955	c.1851C>T	c.(1849-1851)gaC>gaT	p.D617D	CYFIP1_uc001yut.3_Silent_p.D617D|CYFIP1_uc010aya.1_Silent_p.D645D|CYFIP1_uc001yuu.3_Silent_p.D186D	NM_014608	NP_055423	Q7L576	CYFP1_HUMAN	Homo sapiens cytoplasmic FMR1 interacting protein 1 (CYFIP1), transcript variant 1, mRNA.	617					axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	Rac GTPase binding|actin filament binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		AGTGCTGTGACCTTTCGCAGC	0.532000														19			13		0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11603079	11603079	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:11603079A>G	uc002gne.3	+	22	4972	c.4904A>G	c.(4903-4905)aAc>aGc	p.N1635S	DNAH9_uc010coo.3_Missense_Mutation_p.N929S	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	1635	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CTCTTTGACAACATGGCCAAG	0.458000														31			20		0	0	1	0	0
ABCA9	10350	broad.mit.edu	37	17	66982385	66982385	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:66982385G>A	uc002jhu.3	-	31	4271	c.4128C>T	c.(4126-4128)aaC>aaT	p.N1376N	ABCA9_uc010dez.3_Silent_p.N1338N	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 9 (ABCA9), mRNA.	1376	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					TCACTGTCAGGTTGGGCCACA	0.577000														42			26		0	0	1	0	0
TRIM60	166655	broad.mit.edu	37	4	165961663	165961663	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:165961663A>G	uc003iqy.1	+	2	609	c.439A>G	c.(439-441)Agc>Ggc	p.S147G	TRIM60_uc010iqx.1_Missense_Mutation_p.S147G|TRIM60_uc021xty.1_Missense_Mutation_p.S147G	NM_152620	NP_689833	Q495X7	TRI60_HUMAN	Homo sapiens tripartite motif containing 60 (TRIM60), mRNA.	147						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	29	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0844)		TCTAGAAGGTAGCCTTGAGCC	0.393000														57			4		0	0	1	0	0
TRPM7	54822	broad.mit.edu	37	15	50950006	50950006	+	Nonsense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:50950006C>A	uc001zyt.4	-	2	376	c.94G>T	c.(94-96)Gga>Tga	p.G32*	TRPM7_uc010bew.2_Nonsense_Mutation_p.G32*	NM_017672	NP_060142	Q96QT4	TRPM7_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 7 (TRPM7), mRNA.	32					cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		ATTTGACATCCTGGAAGGCAT	0.259000														40			4		0.000602214	0.000641151	1	1	0
ALKBH6	84964	broad.mit.edu	37	19	36501867	36501867	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:36501867G>T	uc002ocv.1	-	4	355	c.349C>A	c.(349-351)Ctc>Atc	p.L117I	C19orf46_uc021utd.1_5'Flank|C19orf46_uc002ocr.1_5'Flank|C19orf46_uc002ocs.1_5'Flank|C19orf46_uc002ocq.1_5'Flank|C19orf46_uc010een.1_5'Flank|ALKBH6_uc002ocw.1_Missense_Mutation_p.L117I|ALKBH6_uc002ocx.1_Missense_Mutation_p.L20I|ALKBH6_uc010eeo.1_Missense_Mutation_p.L89I|ALKBH6_uc010eep.1_Missense_Mutation_p.L117I	NM_032878	NP_116267	Q3KRA9	ALKB6_HUMAN	Homo sapiens alkB, alkylation repair homolog 6 (E. coli) (ALKBH6), transcript variant 2, mRNA.	89	Fe2OG dioxygenase.					cytoplasm|nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|skin(1)	9	all_lung(56;1.35e-06)|Lung NSC(56;2.15e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			AAGAGGCTGAGGTTTGACACT	0.622000														28			5		3.59834e-05	3.95114e-05	1	1	0
OSBPL2	9885	broad.mit.edu	37	20	60859101	60859101	+	Splice_Site	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:60859101G>T	uc002yck.1	+	10	1075	c.873_splice	c.e10-1	p.N291_splice	OSBPL2_uc002ycl.1_Splice_Site_p.N279_splice|OSBPL2_uc011aah.1_Splice_Site_p.N199_splice|OSBPL2_uc002ycm.1_Splice_Site_p.N103_splice	NM_144498	NP_653081	Q9H1P3	OSBL2_HUMAN	Homo sapiens oxysterol binding protein-like 2 (OSBPL2), transcript variant 2, mRNA.	291					lipid transport		lipid binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;1.33e-06)			TTTAATTACAGCAAAAAGAAG	0.388000														40			30		8.16721e-17	1.03702e-16	1	1	0
MAP1A	4130	broad.mit.edu	37	15	43820241	43820241	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:43820241C>A	uc001zrt.3	+	3	7037	c.6570C>A	c.(6568-6570)ccC>ccA	p.P2190P		NM_002373	NP_002364	P78559	MAP1A_HUMAN	Homo sapiens microtubule-associated protein 1A (MAP1A), mRNA.	2190						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	GCTCGGCACCCTGTGGCTCCC	0.637000														160			11		2.27111e-07	2.61452e-07	1	1	0
KIR3DL2	3812	broad.mit.edu	37	19	55331358	55331358	+	Silent	SNP	C	T	T	rs116306767	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:55331358C>T	uc002qhl.4	+	3	609	c.546C>T	c.(544-546)atC>atT	p.I182I	KIR3DL2_uc010yfj.2_Intron|KIR3DL2_uc010yfk.1_Intron|KIR3DL2_uc021vbm.1_Silent_p.I182I|KIR3DL2_uc010esf.3_Silent_p.I87I|KIR3DL2_uc021vbo.1_Silent_p.I182I|KIR3DL2_uc002qhk.4_Silent_p.I182I			P43630	KI3L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1 (KIR3DL1), mRNA.	182	Ig-like C2-type 2.				cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		ATTTCTCCATCGGTCCCATGA	0.537000														191			72		0	0	1	0	0
SOX7	83595	broad.mit.edu	37	8	10583430	10583430	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:10583430G>A	uc011kwz.2	-	5	1174	c.1141C>T	c.(1141-1143)Cgc>Tgc	p.R381C	SOX7_uc003wtf.3_Missense_Mutation_p.R329C	NM_031439	NP_113627	Q9BT81	SOX7_HUMAN	Homo sapiens SRY (sex determining region Y)-box 7 (SOX7), mRNA.	329	Sox C-terminal.				endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway	cytoplasm|nucleus	transcription regulatory region DNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				COAD - Colon adenocarcinoma(149;0.0732)		AATTCATTGCGATCCATGTCC	0.627000														24			15		0	0	1	0	0
BOD1L1	259282	broad.mit.edu	37	4	13601606	13601606	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:13601606A>G	uc003gmz.1	-	9	7035	c.6918T>C	c.(6916-6918)atT>atC	p.I2306I	BOD1L1_uc010idr.1_Silent_p.I1643I	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN	Homo sapiens biorientation of chromosomes in cell division 1-like (BOD1L), mRNA.	2306							DNA binding										GGACAGCACCAATCATGACTG	0.532000														12			7		0	0	1	0	0
RAB11FIP2	22841	broad.mit.edu	37	10	119799881	119799881	+	Silent	SNP	C	T	T	rs146793744	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:119799881C>T	uc001ldj.2	-	1	989	c.549G>A	c.(547-549)acG>acA	p.T183T	RAB11FIP2_uc009xyz.2_Silent_p.T183T	NM_014904	NP_055719	Q7L804	RFIP2_HUMAN	Homo sapiens RAB11 family interacting protein 2 (class I) (RAB11FIP2), mRNA.	183					protein transport	plasma membrane|recycling endosome membrane	protein homodimerization activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(8)	19		Colorectal(252;0.235)		all cancers(201;0.0238)		TTGCAGAAGACGTATCAGAAA	0.353000														65			47		0	0	1	0	0
DLG4	1742	broad.mit.edu	37	17	7094074	7094074	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7094074C>T	uc010vtn.2	-	18	2208	c.1948G>A	c.(1948-1950)Gac>Aac	p.D650N	DLG4_uc010vtm.2_Non-coding_Transcript|DLG4_uc010cly.3_Missense_Mutation_p.D707N|DLG4_uc002get.4_Missense_Mutation_p.D753N|DLG4_uc010vto.2_Missense_Mutation_p.D750N	NM_001128827	NP_001122299	P78352	DLG4_HUMAN	Homo sapiens discs, large homolog 4 (Drosophila) (DLG4), transcript variant 2, mRNA.	710	Guanylate kinase-like.				axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission	cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome	protein C-terminus binding|protein binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18						CCTGAGAGGTCCTCGATGACA	0.622000														60			10		0	0	1	0	0
SLC35G2	80723	broad.mit.edu	37	3	136573853	136573853	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:136573853C>T	uc003erf.4	+	1	765	c.551C>T	c.(550-552)aCa>aTa	p.T184I	SLC35G2_uc003erg.4_Missense_Mutation_p.T184I|SLC35G2_uc010hub.3_Missense_Mutation_p.T184I|SLC35G2_uc021xem.1_Missense_Mutation_p.T184I	NM_001097600	NP_079522	Q8TBE7	TMM22_HUMAN	Homo sapiens transmembrane protein 22 (TMEM22), transcript variant 3, mRNA.	184	DUF6 1.					Golgi apparatus|integral to membrane											TGTGCTTATACATCATTTTCA	0.423000														93			52		0	0	1	0	0
NHS	4810	broad.mit.edu	37	X	17744597	17744597	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:17744597G>A	uc011mix.2	+	6	2709	c.2371G>A	c.(2371-2373)Gac>Aac	p.D791N	NHS_uc004cxx.3_Missense_Mutation_p.D770N|NHS_uc004cxy.3_Missense_Mutation_p.D614N|NHS_uc004cxz.3_Missense_Mutation_p.D593N|NHS_uc004cya.3_Missense_Mutation_p.D493N	NM_001136024	NP_001129496	Q6T4R5	NHS_HUMAN	Homo sapiens Nance-Horan syndrome (congenital cataracts and dental anomalies) (NHS), transcript variant 2, mRNA.	770						nucleus				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					CATGCACTTTGACTGTGGTCT	0.493000														137			17		0	0	1	0	0
NAALADL2	254827	broad.mit.edu	37	3	175165105	175165105	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:175165105G>A	uc003fit.3	+	5	1266	c.1179G>A	c.(1177-1179)tcG>tcA	p.S393S	NAALADL2_uc003fiu.1_Silent_p.S386S|NAALADL2_uc010hwy.1_Intron|NAALADL2_uc010hwz.1_5'UTR	NM_207015	NP_996898	Q58DX5	NADL2_HUMAN	Homo sapiens N-acetylated alpha-linked acidic dipeptidase-like 2 (NAALADL2), mRNA.	393					proteolysis	integral to membrane	peptidase activity			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		TGATCTCTTCGCCAAAAGCTA	0.378000														7			9		0	0	1	0	0
BTBD10	84280	broad.mit.edu	37	11	13424821	13424821	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:13424821A>C	uc010rcl.2	-	6	1306	c.1035T>G	c.(1033-1035)atT>atG	p.I345M	BTBD10_uc001mkz.3_Missense_Mutation_p.I337M|BTBD10_uc009ygn.3_Non-coding_Transcript|BTBD10_uc010rcm.2_Missense_Mutation_p.I289M	NM_032320	NP_115696	Q9BSF8	BTBDA_HUMAN	Homo sapiens BTB (POZ) domain containing 10 (BTBD10), mRNA.	337						nucleus				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|prostate(1)	20				Epithelial(150;0.0214)		TTGTGCTATAAATAACTAGAA	0.294000														82			8		0	0	1	0	0
GRIK1	2897	broad.mit.edu	37	21	30909580	30909580	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:30909580G>A	uc011acs.2	-	16	3198	c.2734C>T	c.(2734-2736)Cga>Tga	p.R912*	GRIK1_uc002ynn.3_Nonsense_Mutation_p.R897*|GRIK1_uc011act.2_Nonsense_Mutation_p.R773*	NM_000830	NP_000821	P39086	GRIK1_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 1 (GRIK1), transcript variant 1, mRNA.	0					central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	CTCTGAGTTCGTCTCTGATGA	0.398000														35			14		0	0	1	0	0
KRI1	65095	broad.mit.edu	37	19	10675645	10675645	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10675645G>A	uc002moy.1	-	2	261	c.252C>T	c.(250-252)ccC>ccT	p.P84P	KRI1_uc002mox.1_Silent_p.P80P	NM_023008	NP_075384	Q8N9T8	KRI1_HUMAN	Homo sapiens KRI1 homolog (S. cerevisiae) (KRI1), mRNA.	84										NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			GATAAATGCGGGGGTCCTTCT	0.507000											OREG0025239	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		87			39		0	0	1	0	0
AK302694	0	broad.mit.edu	37	10	30992525	30992525	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:30992525A>G	uc010qdx.1	+	5	967	c.425A>G	c.(424-426)gAa>gGa	p.E142G						SubName: Full=cDNA FLJ59642, highly similar to Supervillin;																		TTGTTCAAAGAAAAGTTTCTG	0.498000														182			97		0	0	1	0	0
ALG13	79868	broad.mit.edu	37	X	110928326	110928326	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:110928326C>A	uc011msy.2	+	2	479	c.378C>A	c.(376-378)acC>acA	p.T126T	ALG13_uc022ccl.1_Missense_Mutation_p.L107M|ALG13_uc022ccm.1_Non-coding_Transcript|ALG13_uc022ccn.1_Silent_p.T126T|ALG13_uc004epi.2_Silent_p.T126T|ALG13_uc011msw.2_Silent_p.T48T|ALG13_uc011msx.2_Silent_p.T22T|ALG13_uc022ccp.1_Non-coding_Transcript|ALG13_uc022cco.1_Non-coding_Transcript|ALG13_uc011msz.2_Silent_p.T48T|ALG13_uc011mta.2_Silent_p.T22T|ALG13_uc011mtb.2_Silent_p.T22T|ALG13_uc022ccq.1_Non-coding_Transcript	NM_001099922	NP_001093392	Q9NP73	ALG13_HUMAN	Homo sapiens asparagine-linked glycosylation 13 homolog (S. cerevisiae) (ALG13), transcript variant 1, mRNA.	126					dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity|carbohydrate binding			endometrium(2)|lung(10)|skin(1)	13						TCTATTGTACCTGCAGGTATG	0.433000														168			121		9.50458e-46	1.26514e-45	1	1	0
ITLN1	55600	broad.mit.edu	37	1	160854649	160854649	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:160854649G>T	uc001fxc.3	-	1	135	c.19C>A	c.(19-21)Ctg>Atg	p.L7M		NM_017625	NP_060095	Q8WWA0	ITLN1_HUMAN	Homo sapiens intelectin 1 (galactofuranose binding) (ITLN1), mRNA.	7					positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction	anchored to membrane|brush border membrane|extracellular region|membrane raft	receptor binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	21	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			AGAAACAGCAGGAAGCTGAGT	0.507000														216			13		9.05144e-12	1.10939e-11	1	1	0
SHANK2	22941	broad.mit.edu	37	11	70333218	70333218	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:70333218C>T	uc001oqc.3	-	20	3094	c.2982G>A	c.(2980-2982)ccG>ccA	p.P994P	SHANK2_uc010rqn.2_Silent_p.P470P|SHANK2_uc001opz.3_Silent_p.P465P|BC127192_uc009ysn.1_Intron|SHANK2_uc001opy.3_Intron	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 2 (SHANK2), transcript variant 1, mRNA.	681					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|SH3 domain binding|ionotropic glutamate receptor binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			TCGGTGGCTCCGGGGCCTGGG	0.692000														36			21		0	0	1	0	0
EMILIN2	84034	broad.mit.edu	37	18	2885065	2885065	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:2885065G>T	uc002kln.3	+	2	520	c.361G>T	c.(361-363)Ggt>Tgt	p.G121C		NM_032048	NP_114437	Q9BXX0	EMIL2_HUMAN	Homo sapiens elastin microfibril interfacer 2 (EMILIN2), mRNA.	121					cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		TTGCCAAGAAGGTCCCAAAGA	0.502000														42			19		6.33239e-15	7.95586e-15	1	1	0
COL15A1	1306	broad.mit.edu	37	9	101748295	101748295	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:101748295C>T	uc004azb.1	+	2	755	c.549C>T	c.(547-549)agC>agT	p.S183S		NM_001855	NP_001846	P39059	COFA1_HUMAN	Homo sapiens collagen, type XV, alpha 1 (COL15A1), mRNA.	183	TSP N-terminal.				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				AGGAGCACAGCCGCATCCCCT	0.587000														33			29		0	0	1	0	0
TEF	7008	broad.mit.edu	37	22	41783660	41783660	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:41783660G>A	uc011apa.2	+	1	564	c.478G>A	c.(478-480)Gtg>Atg	p.V160M	TEF_uc003azx.3_Missense_Mutation_p.V125M|TEF_uc021wqe.1_Intron|TEF_uc003azy.3_Missense_Mutation_p.V155M	NM_001145398	NP_001138870	Q10587	TEF_HUMAN	Homo sapiens thyrotrophic embryonic factor (TEF), transcript variant 2, mRNA.	155					rhythmic process	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(2)|lung(2)|ovary(1)	6						CTCTGAAACCGTGTCCAGCAC	0.582000														8			13		0	0	1	0	0
KRTAP5-9	3846	broad.mit.edu	37	11	71260186	71260186	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:71260186C>A	uc001oqs.1	+	0	721	c.483C>A	c.(481-483)gtC>gtA	p.V161V		NM_005553	NP_005544	P26371	KRA59_HUMAN	Homo sapiens keratin associated protein 5-9 (KRTAP5-9), mRNA.	161	8 X 4 AA repeats of C-C-X-P.				epidermis development	keratin filament				kidney(1)|large_intestine(1)|lung(6)|prostate(3)	11						GATGCTGTGTCCCTGTGTGCT	0.567000														117			10		0.000978159	0.00103832	1	1	0
TTN	7273	broad.mit.edu	37	2	179658255	179658255	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179658255G>A	uc021vsy.1	-	8	1637	c.1412C>T	c.(1411-1413)gCg>gTg	p.A471V	TTN_uc021vsz.1_Missense_Mutation_p.A471V|TTN_uc021vta.1_Missense_Mutation_p.A471V|TTN_uc021vtb.1_Missense_Mutation_p.A471V|TTN_uc002unb.2_Missense_Mutation_p.A471V|TTN_uc010frg.1_Missense_Mutation_p.A145V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	471							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)			AGTCTTCTCCGCTTCCTTTCT	0.393000														64			20		0	0	1	0	0
FANCI	55215	broad.mit.edu	37	15	89804856	89804856	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:89804856A>G	uc010bnp.1	+	4	419	c.329A>G	c.(328-330)aAt>aGt	p.N110S	FANCI_uc002bnm.1_Missense_Mutation_p.N110S|FANCI_uc002bnn.1_Non-coding_Transcript|FANCI_uc002bno.3_Missense_Mutation_p.N110S|FANCI_uc002bnp.1_5'Flank	NM_001113378	NP_001106849	Q9NVI1	FANCI_HUMAN	Homo sapiens Fanconi anemia, complementation group I (FANCI), transcript variant 1, mRNA.	110					DNA repair|cell cycle	nucleoplasm	protein binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	Lung NSC(78;0.0472)|all_lung(78;0.089)					GAATTAGCCAATGAGTTTATT	0.383000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia					164			11		0	0	1	0	0
C14orf181	0	broad.mit.edu	37	14	69262515	69262515	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:69262515T>G	uc021rvf.1	-	0	497	c.497A>C	c.(496-498)aAa>aCa	p.K166T	ZFP36L1_uc001xki.2_5'Flank|ZFP36L1_uc001xkh.2_5'Flank|ZFP36L1_uc021rve.1_Intron					Synthetic construct DNA, clone: pF1KE0588, Homo sapiens C14orf181 gene for chromosome 14 open reading frame 181, without stop codon, in Flexi system.									p.P165R(1)		NS(1)|cervix(1)|lung(2)|ovary(1)|urinary_tract(1)	6				all cancers(60;0.002)|BRCA - Breast invasive adenocarcinoma(234;0.00204)|OV - Ovarian serous cystadenocarcinoma(108;0.0399)		GAAACGTCATTTCGGGGACTT	0.592000														65			14		0	0	1	0	0
NCOR1	9611	broad.mit.edu	37	17	15935767	15935767	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:15935767G>A	uc002gpo.3	-	45	7435	c.7166C>T	c.(7165-7167)aCt>aTt	p.T2389I	NCOR1_uc002gpn.3_Missense_Mutation_p.T2286I|NCOR1_uc002gpl.3_Missense_Mutation_p.T403I|NCOR1_uc002gpm.3_Missense_Mutation_p.T908I|NCOR1_uc010vwb.2_Missense_Mutation_p.T973I|NCOR1_uc010coy.3_Missense_Mutation_p.T1297I	NM_006311	NP_006302	O75376	NCOR1_HUMAN	Homo sapiens nuclear receptor corepressor 1 (NCOR1), transcript variant 1, mRNA.	2389	Interaction with C1D (By similarity).				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		CATCCGCATAGTCAGAGGGTT	0.453000														46			24		0	0	1	0	0
RNF112	7732	broad.mit.edu	37	17	19316255	19316255	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:19316255C>T	uc010vyw.2	+	3	617	c.386C>T	c.(385-387)aCg>aTg	p.T129M	RNF112_uc010vyu.2_Missense_Mutation_p.T129M|RNF112_uc021tsa.1_Non-coding_Transcript|RNF112_uc010vyx.1_Intron	NM_007148	NP_009079	Q7Z5V9	Q7Z5V9_HUMAN	Homo sapiens ring finger protein 112 (RNF112), mRNA.	129							GTP binding|GTPase activity|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	12						GCCCAGGAGACGTGTCCTGTG	0.617000														6			3		0	0	1	0	0
KIAA0947	23379	broad.mit.edu	37	5	5464590	5464590	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:5464590C>T	uc003jdm.4	+	12	5365	c.5143C>T	c.(5143-5145)Cag>Tag	p.Q1715*		NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN	Homo sapiens KIAA0947 (KIAA0947), mRNA.	1715	Pro-rich.									breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						GTCTCCTCTGCAGTTCTGTGC	0.627000														34			19		0	0	1	0	0
TAS2R1	50834	broad.mit.edu	37	5	9629871	9629871	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:9629871C>T	uc003jem.1	-	0	593	c.274G>A	c.(274-276)Gaa>Aaa	p.E92K		NM_019599	NP_062545	Q9NYW7	TA2R1_HUMAN	Homo sapiens taste receptor, type 2, member 1 (TAS2R1), mRNA.	92					chemosensory behavior|sensory perception of taste	integral to membrane	taste receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1)	39						AGCCAAAGTTCCAATTCATTT	0.413000														17			9		0	0	1	0	0
STAU1	6780	broad.mit.edu	37	20	47734473	47734473	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:47734473C>A	uc002xud.3	-	10	1761	c.1350G>T	c.(1348-1350)acG>acT	p.T450T	STAU1_uc002xua.3_Silent_p.T369T|STAU1_uc002xub.3_Silent_p.T375T|STAU1_uc002xuc.3_Silent_p.T369T|STAU1_uc002xue.3_Silent_p.T369T|STAU1_uc002xuf.3_Silent_p.T375T|STAU1_uc002xug.3_Silent_p.T450T	NM_017453	NP_059348	O95793	STAU1_HUMAN	Homo sapiens staufen, RNA binding protein, homolog 1 (Drosophila) (STAU1), transcript variant T3, mRNA.	450						microtubule associated complex|rough endoplasmic reticulum|stress granule	double-stranded RNA binding			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	23			BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)			TGGCAGTTACCGTGGCCTTGG	0.542000														93			11		2.80697e-09	3.3309e-09	1	1	0
WIPF3	644150	broad.mit.edu	37	7	29915574	29915574	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:29915574C>T	uc022aaz.1	+	2	401	c.219C>T	c.(217-219)atC>atT	p.I73I	WIPF3_uc003taj.2_Silent_p.I73I	NM_001080529	NP_001073998	B8ZZV2	B8ZZV2_HUMAN	Homo sapiens WAS/WASL interacting protein family, member 3 (WIPF3), mRNA.	73										breast(2)|large_intestine(3)|lung(6)|ovary(1)	12						CCCCGCAGATCGAGAGTAAGT	0.627000														14			21		0	0	1	0	0
LRRN4	164312	broad.mit.edu	37	20	6022650	6022650	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:6022650G>A	uc002wmo.2	-	4	1465	c.1241C>T	c.(1240-1242)tCt>tTt	p.S414F		NM_152611	NP_689824	Q8WUT4	LRRN4_HUMAN	Homo sapiens leucine rich repeat neuronal 4 (LRRN4), mRNA.	414						integral to membrane				breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						TATCGTGCGAGAGCCCACGTT	0.672000														31			21		0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64619315	64619315	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:64619315G>T	uc001xgl.3	+	84	15903	c.15673G>T	c.(15673-15675)Gca>Tca	p.A5225S	SYNE2_uc001xgm.3_Missense_Mutation_p.A5225S|SYNE2_uc010apy.3_Missense_Mutation_p.A1610S|SYNE2_uc001xgn.3_Missense_Mutation_p.A187S|SYNE2_uc021rui.1_Missense_Mutation_p.A187S|SYNE2_uc001xgo.3_Non-coding_Transcript	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	5225					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TAAATCCAAAGCACTAGATGA	0.353000														29			19		2.37509e-13	2.95421e-13	1	1	0
PGM2	55276	broad.mit.edu	37	4	37841824	37841824	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:37841824C>T	uc011byb.1	+	5	735	c.662C>T	c.(661-663)cCg>cTg	p.P221L	PGM2_uc011bya.1_Missense_Mutation_p.P82L|PGM2_uc011byc.1_Missense_Mutation_p.P61L	NM_018290	NP_060760	Q96G03	PGM2_HUMAN	Homo sapiens phosphoglucomutase 2 (PGM2), mRNA.	221					glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity|phosphopentomutase activity			breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	19						CTCCACAATCCGAGTGCTTCC	0.393000														94			8		0	0	1	0	0
NDRG4	65009	broad.mit.edu	37	16	58538527	58538527	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:58538527G>A	uc002enm.3	+	6	843	c.502G>A	c.(502-504)Gga>Aga	p.G168R	NDRG4_uc002enk.3_Missense_Mutation_p.G148R|NDRG4_uc010vif.2_Missense_Mutation_p.G148R|NDRG4_uc002eno.3_Missense_Mutation_p.G116R|NDRG4_uc010cdk.3_Missense_Mutation_p.G134R|NDRG4_uc010vig.2_Missense_Mutation_p.G146R|NDRG4_uc010vih.2_Missense_Mutation_p.G61R|NDRG4_uc010vii.2_Missense_Mutation_p.G134R|NDRG4_uc002enp.3_Missense_Mutation_p.G116R|NDRG4_uc002enq.1_5'Flank	NM_001130487	NP_075061	Q9ULP0	NDRG4_HUMAN	Homo sapiens NDRG family member 4 (NDRG4), transcript variant 2, mRNA.	116					cell differentiation|cell growth|multicellular organismal development|response to stress	cytoplasm				breast(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11						AGTGGGCGCCGGAGCCTATGT	0.597000														38			22		0	0	1	0	0
LGI2	55203	broad.mit.edu	37	4	25005147	25005147	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:25005147C>A	uc003grf.2	-	7	1663	c.1564G>T	c.(1564-1566)Gat>Tat	p.D522Y		NM_018176	NP_060646	Q8N0V4	LGI2_HUMAN	Homo sapiens leucine-rich repeat LGI family, member 2 (LGI2), mRNA.	522						extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				AAAAAGAAATCTCTCCTGTCG	0.393000														48			5		0.000602214	0.000641151	1	1	0
MAML3	55534	broad.mit.edu	37	4	140641269	140641269	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:140641269G>A	uc021xsg.1	-	4	3377	c.2625C>T	c.(2623-2625)agC>agT	p.S875S	MGST2_uc021xsf.1_Intron|MGST2_uc010ioi.1_Intron|MAML3_uc011chd.1_Silent_p.S338S	NM_018717	NP_061187	Q96JK9	MAML3_HUMAN	Homo sapiens mastermind-like 3 (Drosophila) (MAML3), mRNA.	871	Gln-rich.				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					TCATGCCTGTGCTCATATTGT	0.582000														188			148		0	0	1	0	0
USP26	83844	broad.mit.edu	37	X	132160551	132160551	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:132160551T>C	uc011mvf.2	-	0	1750	c.1698A>G	c.(1696-1698)gaA>gaG	p.E566E	USP26_uc010nrm.1_Silent_p.E566E	NM_031907	NP_114113	Q9BXU7	UBP26_HUMAN	Homo sapiens ubiquitin specific peptidase 26 (USP26), mRNA.	566					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					AATCTGTAATTTCTCCATCCT	0.393000														92			6		0	0	1	0	0
NDUFA7	4701	broad.mit.edu	37	19	8376449	8376449	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:8376449C>T	uc002mjm.2	-	3	320	c.282G>A	c.(280-282)gcG>gcA	p.A94A		NM_005001	NP_004992	O95182	NDUA7_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 7, 14.5kDa (NDUFA7), nuclear gene encoding mitochondrial protein, mRNA.	94					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	p.A94A(2)		NS(1)|central_nervous_system(1)|lung(2)|ovary(1)	5					NADH(DB00157)	CTGGAGTCACCGCCTTCTTCT	0.572000														94			5		0	0	1	0	0
FUT2	2524	broad.mit.edu	37	19	49206262	49206262	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:49206262C>A	uc002pke.4	+	1	160	c.49C>A	c.(49-51)Ctc>Atc	p.L17I	FUT2_uc010emc.3_Missense_Mutation_p.L17I|FUT2_uc021uwx.1_Missense_Mutation_p.L17I	NM_001097638	NP_001091107	Q10981	FUT2_HUMAN	Homo sapiens fucosyltransferase 2 (secretor status included) (FUT2), transcript variant 2, mRNA.	17					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	galactoside 2-alpha-L-fucosyltransferase activity			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)	7		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.00011)|all cancers(93;0.000238)|GBM - Glioblastoma multiforme(486;0.0164)|Epithelial(262;0.017)		CCACTTCATCCTCTTTGTCTT	0.542000														175			12		0.000151284	0.000164177	1	1	0
LAMB1	3912	broad.mit.edu	37	7	107600145	107600145	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:107600145C>T	uc003vev.2	-	16	2682	c.2521G>A	c.(2521-2523)Gga>Aga	p.G841R	LAMB1_uc003vew.2_Missense_Mutation_p.G817R|LAMB1_uc003vex.3_Missense_Mutation_p.G817R	NM_002291	NP_002282	P07942	LAMB1_HUMAN	Homo sapiens laminin, beta 1 (LAMB1), mRNA.	817	Laminin EGF-like 7.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CGTTTGCATCCACTGGGGCCA	0.532000														34			12		0	0	1	0	0
DUOX1	53905	broad.mit.edu	37	15	45427309	45427309	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:45427309C>T	uc001zus.1	+	5	661	c.315C>T	c.(313-315)caC>caT	p.H105H	DUOX1_uc001zut.1_Silent_p.H105H|DUOX1_uc010bee.1_5'UTR	NM_017434	NP_787954	Q9NRD9	DUOX1_HUMAN	Homo sapiens dual oxidase 1 (DUOX1), transcript variant 1, mRNA.	105	Peroxidase-like; mediates peroxidase activity.				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	NAD(P)H oxidase activity|NADP binding|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|peroxidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		CAGGCTATCACGTGCTTTCAG	0.617000														39			5		0	0	1	0	0
ODZ4	26011	broad.mit.edu	37	11	78387401	78387401	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:78387401G>A	uc001ozl.4	-	29	5755	c.5292C>T	c.(5290-5292)gcC>gcT	p.A1764A	ODZ4_uc001ozk.4_5'UTR	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA.	1764					signal transduction	integral to membrane				breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						AGGAGCCATCGGCCCCGATGT	0.627000														12			6		0	0	1	0	0
GRK4	2868	broad.mit.edu	37	4	3015421	3015421	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:3015421G>A	uc003ggn.1	+	7	1062	c.607G>A	c.(607-609)Gcc>Acc	p.A203T	GRK4_uc003ggo.1_Missense_Mutation_p.A203T|GRK4_uc003ggp.1_Missense_Mutation_p.A171T|GRK4_uc003ggq.1_Missense_Mutation_p.A171T	NM_182982	NP_892027	P32298	GRK4_HUMAN	Homo sapiens G protein-coupled receptor kinase 4 (GRK4), transcript variant 1, mRNA.	203	Protein kinase.					cell cortex	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			lung(1)|upper_aerodigestive_tract(1)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CTAGGTTTGCGCCTGTCAAGT	0.418000														132			71		0	0	1	0	0
FAM208B	54906	broad.mit.edu	37	10	5781604	5781604	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:5781604C>T	uc001iij.3	+	12	2096	c.1471C>T	c.(1471-1473)Ctt>Ttt	p.L491F	FAM208B_uc001iik.3_Intron	NM_017782	NP_060252	Q5VWN6	CJ018_HUMAN	Homo sapiens family with sequence similarity 208, member B (FAM208B), mRNA.	491																	TGCTTCAAAGCTTCAATCAGA	0.348000														35			23		0	0	1	0	0
XPNPEP1	7511	broad.mit.edu	37	10	111629770	111629770	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:111629770C>A	uc001kyp.2	-	18	1834	c.1714G>T	c.(1714-1716)Gat>Tat	p.D572Y	XPNPEP1_uc009xxt.2_Missense_Mutation_p.D548Y|XPNPEP1_uc001kyq.2_Missense_Mutation_p.D458Y	NM_020383	NP_065116	Q9NQW7	XPP1_HUMAN	Homo sapiens X-prolyl aminopeptidase (aminopeptidase P) 1, soluble (XPNPEP1), transcript variant 1, mRNA.	529					bradykinin catabolic process|proteolysis		manganese ion binding|metalloaminopeptidase activity|protein homodimerization activity	p.D529Y(1)		endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1)	31		Breast(234;0.174)		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)		AAAGCCCCATCTTCATAGTAC	0.403000														23			10		7.03913e-09	8.30711e-09	1	1	0
PSMA3	5684	broad.mit.edu	37	14	58737155	58737155	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:58737155G>A	uc001xdj.2	+	8	726	c.610G>A	c.(610-612)Gaa>Aaa	p.E204K	C14orf37_uc010tro.2_Intron|PSMA3_uc001xdk.2_Missense_Mutation_p.E197K|PSMA3_uc021rtt.1_Missense_Mutation_p.E129K|C14orf37_uc001xdl.3_Intron|C14orf37_uc021rtu.1_Intron	NM_002788	NP_002779	P25788	PSA3_HUMAN	Homo sapiens proteasome (prosome, macropain) subunit, alpha type, 3 (PSMA3), transcript variant 1, mRNA.	204					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|interspecies interaction between organisms|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	protein binding|threonine-type endopeptidase activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(2)	12						AGTACATGACGAAGTTAAGGA	0.348000														76			35		0	0	1	0	0
CSRNP3	80034	broad.mit.edu	37	2	166535949	166535949	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:166535949C>T	uc002udf.3	+	6	1820	c.1444C>T	c.(1444-1446)Cga>Tga	p.R482*	CSRNP3_uc002udg.3_Nonsense_Mutation_p.R482*	NM_001172173	NP_079245	Q8WYN3	CSRN3_HUMAN	Homo sapiens cysteine-serine-rich nuclear protein 3 (CSRNP3), transcript variant 1, mRNA.	482					apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						TGACTATGCCCGACAAGCAGA	0.517000														14			12		0	0	1	0	0
GLI3	2737	broad.mit.edu	37	7	42065984	42065984	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:42065984G>A	uc011kbh.2	-	7	1147	c.1056C>T	c.(1054-1056)tcC>tcT	p.S352S	GLI3_uc011kbg.2_Silent_p.S293S	NM_000168	NP_000159	P10071	GLI3_HUMAN	Homo sapiens GLI family zinc finger 3 (GLI3), mRNA.	352					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S351C(1)		NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						AGACGGGCGCGGAAGAGTAGG	0.537000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly					23			11		0	0	1	0	0
SCAP	22937	broad.mit.edu	37	3	47459175	47459175	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:47459175C>T	uc003crh.1	-	16	2844	c.2589G>A	c.(2587-2589)ccG>ccA	p.P863P	SCAP_uc011baz.1_Silent_p.P607P|SCAP_uc003crg.2_Silent_p.P470P	NM_012235	NP_036367	Q12770	SCAP_HUMAN	Homo sapiens SREBF chaperone (SCAP), mRNA.	863	Interaction with SREBF2 (By similarity).|Poly-Pro.				cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	ER to Golgi transport vesicle membrane|Golgi membrane|endoplasmic reticulum membrane|integral to membrane	unfolded protein binding			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		AGAGGGAAGGCGGCGGAGGGC	0.662000														12			3		0	0	1	0	0
FSD2	123722	broad.mit.edu	37	15	83455764	83455764	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:83455764C>T	uc002bjd.2	-	1	546	c.379G>A	c.(379-381)Gcg>Acg	p.A127T	FSD2_uc010uol.1_Missense_Mutation_p.A127T|FSD2_uc010uom.1_Missense_Mutation_p.A127T	NM_001007122	NP_001007123	A1L4K1	FSD2_HUMAN	Homo sapiens fibronectin type III and SPRY domain containing 2 (FSD2), mRNA.	127										breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10)	18						TCGGCCTCCGCTGCCTCTCCA	0.587000														60			4		0	0	1	0	0
FTH1	2495	broad.mit.edu	37	11	61732269	61732269	+	Missense_Mutation	SNP	G	A	A	rs11554842		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:61732269G>A	uc001nsu.3	-	3	717	c.482C>T	c.(481-483)gCg>gTg	p.A161V		NM_002032	NP_002023	P02794	FRIH_HUMAN	Homo sapiens ferritin, heavy polypeptide 1 (FTH1), mRNA.	161					cell proliferation|cellular membrane organization|immune response|intracellular sequestering of iron ion|iron ion transport|negative regulation of cell proliferation|post-Golgi vesicle-mediated transport	cytosol|intracellular ferritin complex	ferric iron binding|ferroxidase activity|protein binding			NS(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8					Iron Dextran(DB00893)	AGATTCGGGCGCTCCCATCTT	0.502000														47			7		0	0	1	0	0
ITFG2	55846	broad.mit.edu	37	12	2930857	2930857	+	Splice_Site	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:2930857G>T	uc001qlb.2	+	9	988	c.848_splice	c.e9-1	p.G283_splice	ITFG2_uc010seb.2_Splice_Site_p.G106_splice|ITFG2_uc010sec.2_Splice_Site	NM_018463	NP_060933	Q969R8	ITFG2_HUMAN	Homo sapiens integrin alpha FG-GAP repeat containing 2 (ITFG2), mRNA.	283										central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			TCCCCCGGCAGGGACACTGAA	0.582000														45			33		5.91797e-21	7.65161e-21	1	1	0
THAP9	79725	broad.mit.edu	37	4	83828938	83828938	+	Splice_Site	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:83828938A>G	uc003hnt.2	+	4	700	c.581_splice	c.e4-1	p.D194_splice	THAP9_uc003hns.1_Splice_Site_p.D50_splice|THAP9_uc003hnu.1_Splice_Site|THAP9_uc003hnv.2_Splice_Site	NM_024672	NP_078948	Q9H5L6	THAP9_HUMAN	Homo sapiens THAP domain containing 9 (THAP9), mRNA.	194							DNA binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3)	33		Hepatocellular(203;0.114)				ATTTTAACAGATTTTAAGTGG	0.308000														26			10		0	0	1	0	0
SHE	126669	broad.mit.edu	37	1	154459139	154459139	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:154459139G>A	uc001ffb.3	-	3	1069	c.1045C>T	c.(1045-1047)Cga>Tga	p.R349*	SHE_uc001ffc.3_Non-coding_Transcript	NM_001010846	NP_001010846	Q5VZ18	SHE_HUMAN	Homo sapiens Src homology 2 domain containing E (SHE), mRNA.	349										breast(4)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)	14	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			AAGGAAGGTCGCTCAGCTCCT	0.547000														41			33		0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57605281	57605281	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57605281G>A	uc001snd.3	+	84	13569	c.13103G>A	c.(13102-13104)gGc>gAc	p.G4368D		NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	4368	EGF-like 21.				aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TGCACGGATGGCCGGGTGGCC	0.647000														32			4		0	0	1	0	0
NALCN	259232	broad.mit.edu	37	13	101735165	101735165	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:101735165G>A	uc001vox.1	-	32	3949	c.3760C>T	c.(3760-3762)Ctg>Ttg	p.L1254L		NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	Homo sapiens sodium leak channel, non-selective (NALCN), mRNA.	1254						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AGTACCTCCAGAACAAAGATG	0.493000														54			8		0	0	1	0	0
SYCP2L	221711	broad.mit.edu	37	6	10906267	10906267	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:10906267G>T	uc003mzo.3	+	8	952	c.656G>T	c.(655-657)aGg>aTg	p.R219M	SYCP2L_uc011din.1_Missense_Mutation_p.R60M|SYCP2L_uc010jow.3_5'UTR	NM_001040274	NP_001035364	Q5T4T6	SYC2L_HUMAN	Homo sapiens synaptonemal complex protein 2-like (SYCP2L), mRNA.	219						nucleus				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			GACCTTGCAAGGACACTCTTG	0.338000														150			11		9.31168e-06	1.03939e-05	1	1	0
HSD17B11	51170	broad.mit.edu	37	4	88278558	88278558	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:88278558A>G	uc003hqp.2	-	4	801	c.568T>C	c.(568-570)Ttt>Ctt	p.F190L		NM_016245	NP_057329	Q8NBQ5	DHB11_HUMAN	Homo sapiens hydroxysteroid (17-beta) dehydrogenase 11 (HSD17B11), mRNA.	190					androgen catabolic process|steroid biosynthetic process	cytoplasm|extracellular region	binding|estradiol 17-beta-dehydrogenase activity			cervix(1)|endometrium(4)|kidney(2)|lung(2)|ovary(2)	11		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000339)		ACAGCAGCAAACTTGCTTGAA	0.378000														25			9		0	0	1	0	0
SLC38A6	145389	broad.mit.edu	37	14	61518548	61518548	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:61518548T>C	uc001xfh.2	+	13	1258	c.1094T>C	c.(1093-1095)tTc>tCc	p.F365S	SLC38A6_uc001xfg.2_Missense_Mutation_p.F365S|SLC38A6_uc001xfi.3_Non-coding_Transcript|SLC38A6_uc001xfj.1_Non-coding_Transcript|SLC38A6_uc001xfk.3_Non-coding_Transcript|SLC38A6_uc010trz.2_Missense_Mutation_p.F342S	NM_001172702	NP_001166173	Q8IZM9	S38A6_HUMAN	Homo sapiens solute carrier family 38, member 6 (SLC38A6), transcript variant 1, mRNA.	365					amino acid transport|sodium ion transport	integral to membrane				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(108;0.0981)		AATTTTCCATTCTCATGGATT	0.323000														77			5		0	0	1	0	0
ERGIC2	51290	broad.mit.edu	37	12	29496212	29496212	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:29496212G>A	uc001riv.3	-	11	962	c.829C>T	c.(829-831)Cgt>Tgt	p.R277C	ERGIC2_uc001riw.3_Non-coding_Transcript	NM_016570	NP_057654	Q96RQ1	ERGI2_HUMAN	Homo sapiens ERGIC and golgi 2 (ERGIC2), mRNA.	277					vesicle-mediated transport	ER-Golgi intermediate compartment membrane|Golgi apparatus|endoplasmic reticulum membrane|integral to membrane|nucleus				endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)|urinary_tract(1)	10	Lung NSC(12;2.02e-08)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)|Lung SC(9;0.184)				Arsenic trioxide(DB01169)	TTAATGATACGTTCCTAAAAG	0.418000														65			7		0	0	1	0	0
GPR4	2828	broad.mit.edu	37	19	46094078	46094078	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:46094078C>A	uc002pcm.3	-	1	1992	c.1047G>T	c.(1045-1047)caG>caT	p.Q349H	OPA3_uc010xxk.2_Intron|GPR4_uc021uvw.1_Missense_Mutation_p.Q349H	NM_005282	NP_005273	P46093	GPR4_HUMAN	Homo sapiens G protein-coupled receptor 4 (GPR4), mRNA.	349						integral to plasma membrane	G-protein coupled receptor activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)		CCTGGTCCCCCTGGGAGGGCG	0.627000														58			7		8.12818e-05	8.84769e-05	1	1	0
MSH3	4437	broad.mit.edu	37	5	80160632	80160632	+	Splice_Site	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:80160632G>T	uc003kgz.3	+	22	3254	c.3001_splice	c.e22-1	p.V1001_splice		NM_002439	NP_002430	P20585	MSH3_HUMAN	Homo sapiens mutS homolog 3 (E. coli) (MSH3), mRNA.	1001					maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|Y-form DNA binding|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		ATTGCTTTAGGTGAAATCCTT	0.313000								Mismatch excision repair (MMR)						46			4		0.00909568	0.00940365	1	1	0
DHX30	22907	broad.mit.edu	37	3	47888776	47888776	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:47888776G>A	uc003cru.3	+	11	2369	c.1943G>A	c.(1942-1944)tGc>tAc	p.C648Y	DHX30_uc003crt.3_Missense_Mutation_p.C609Y|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.	648						mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|RNA binding|protein 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)		GAGGATGAATGCGCACTCGAT	0.612000														53			30		0	0	1	0	0
SLC15A4	121260	broad.mit.edu	37	12	129299482	129299482	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:129299482G>A	uc001uhu.2	-	1	733	c.680C>T	c.(679-681)gCg>gTg	p.A227V	SLC15A4_uc001uhv.2_Non-coding_Transcript|AK001057_uc001uhw.3_5'Flank	NM_145648	NP_663623	Q8N697	S15A4_HUMAN	Homo sapiens solute carrier family 15, member 4 (SLC15A4), mRNA.	227					oligopeptide transport|protein transport	integral to membrane|lysosomal membrane	peptide:hydrogen symporter activity	p.A227V(2)		endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|skin(1)	22	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.69e-06)|Epithelial(86;1.17e-05)|all cancers(50;5.07e-05)		AGTGGGGATCGCATAACCAGT	0.498000														72			43		0	0	1	0	0
AIM1	202	broad.mit.edu	37	6	106968990	106968990	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:106968990C>A	uc003prh.3	+	1	3595	c.2683C>A	c.(2683-2685)Ctt>Att	p.L895I		NM_001624	NP_001615	Q9Y4K1	AIM1_HUMAN	Homo sapiens absent in melanoma 1 (AIM1), mRNA.	895							sugar binding			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		ACAGTCAAATCTTCTGCCCGA	0.463000														63			33		1.56738e-10	1.89859e-10	1	1	0
CDH17	1015	broad.mit.edu	37	8	95189855	95189855	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:95189855C>T	uc003ygh.2	-	3	370	c.245G>A	c.(244-246)aGa>aAa	p.R82K	CDH17_uc011lgo.1_Missense_Mutation_p.R82K|CDH17_uc011lgp.1_Missense_Mutation_p.R82K	NM_004063	NP_004054	Q12864	CAD17_HUMAN	Homo sapiens cadherin 17, LI cadherin (liver-intestine) (CDH17), transcript variant 1, mRNA.	82	Cadherin 1.					integral to membrane	calcium ion binding			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			GTCCAAGGCTCTGTTGTAATA	0.463000														52			41		0	0	1	0	0
TMEM52	339456	broad.mit.edu	37	1	1849365	1849365	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:1849365C>A	uc001aij.2	-	4	622	c.586G>T	c.(586-588)Ggc>Tgc	p.G196C	TMEM52_uc001aii.2_Missense_Mutation_p.G181C	NM_178545	NP_848640	Q8NDY8	TMM52_HUMAN	Homo sapiens transmembrane protein 52 (TMEM52), mRNA.	196						integral to membrane				NS(1)|prostate(1)|stomach(1)	3	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.82e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.75e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GTATTGGGGCCCGACTCCTGG	0.612000														109			10		0.010729	0.011087	1	1	0
SLC26A8	116369	broad.mit.edu	37	6	35980071	35980071	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:35980071C>A	uc003olm.3	-	2	378	c.267G>T	c.(265-267)aaG>aaT	p.K89N	SLC26A8_uc003oll.3_Missense_Mutation_p.K89N|SLC26A8_uc003oln.3_Missense_Mutation_p.K89N	NM_001193476	NP_443193	Q96RN1	S26A8_HUMAN	Homo sapiens solute carrier family 26, member 8 (SLC26A8), transcript variant 3, mRNA.	89					cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						GAAGCCAATCCTTTAATCGAT	0.458000														175			21		8.10497e-08	9.41436e-08	1	1	0
CCNF	899	broad.mit.edu	37	16	2498892	2498892	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:2498892C>T	uc002cqd.1	+	10	1219	c.1131C>T	c.(1129-1131)gcC>gcT	p.A377A	CCNF_uc002cqe.1_Silent_p.A69A	NM_001761	NP_001752	P41002	CCNF_HUMAN	Homo sapiens cyclin F (CCNF), mRNA.	377	Cyclin N-terminal.				SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|negative regulation of centrosome duplication|protein ubiquitination	SCF ubiquitin ligase complex|centriole|nucleus	protein binding			breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1)	20		Ovarian(90;0.17)				TCCGGGAGGCCGTATGGCTCA	0.587000														63			57		0	0	1	0	0
KITLG	4254	broad.mit.edu	37	12	88910194	88910194	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:88910194C>A	uc001tav.3	-	4	632	c.437G>T	c.(436-438)aGa>aTa	p.R146I	KITLG_uc009zsn.3_Intron|KITLG_uc001taw.3_Missense_Mutation_p.R146I|KITLG_uc009zso.1_Intron	NM_000899	NP_000890	P21583	SCF_HUMAN	Homo sapiens KIT ligand (KITLG), transcript variant b, mRNA.	146					cell adhesion|cell proliferation|hemopoiesis|male gonad development|positive regulation of DNA replication|signal transduction	cytoplasm|cytoskeleton|integral to membrane|plasma membrane	growth factor activity|identical protein binding|stem cell factor receptor binding			kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)	9						ATCAATGGATCTATTAAAAAT	0.348000									Testicular Cancer, Familial Clustering of					71			41		4.32679e-17	5.50406e-17	1	1	0
CARD11	84433	broad.mit.edu	37	7	2984158	2984158	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:2984158G>A	uc003smv.3	-	4	706	c.372C>T	c.(370-372)caC>caT	p.H124H		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	Homo sapiens caspase recruitment domain family, member 11 (CARD11), mRNA.	124					T cell costimulation|T cell receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of cytokine production|regulation of apoptosis	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity	p.F123I(2)|p.F123C(1)|p.F123V(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		TGAGGCCCTCGTGGCCTTCCT	0.612000			Mis		DLBCL									26			4		0	0	1	0	0
CTC1	80169	broad.mit.edu	37	17	8131841	8131841	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:8131841G>A	uc002gkq.4	-	21	3553	c.3494C>T	c.(3493-3495)cCg>cTg	p.P1165L	CTC1_uc010cnv.3_Non-coding_Transcript	NM_025099	NP_079375	Q2NKJ3	CTC1_HUMAN	Homo sapiens CTS telomere maintenance complex component 1 (CTC1), mRNA.	1165					positive regulation of DNA replication|telomere maintenance	Stn1-Ten1 complex	protein binding|single-stranded DNA binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						GATCTTCGACGGTTTCCTTTC	0.527000														348			17		0	0	1	0	0
MECOM	2122	broad.mit.edu	37	3	168834464	168834464	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:168834464G>A	uc011bpj.1	-	7	1599	c.1196C>T	c.(1195-1197)gCt>gTt	p.A399V	MECOM_uc010hwk.1_Missense_Mutation_p.A234V|MECOM_uc003ffj.3_Missense_Mutation_p.A276V|MECOM_uc003ffi.3_Missense_Mutation_p.A211V|MECOM_uc011bpi.1_Missense_Mutation_p.A212V|MECOM_uc003ffn.3_Missense_Mutation_p.A211V|MECOM_uc003ffk.2_Missense_Mutation_p.A211V|MECOM_uc003ffl.2_Missense_Mutation_p.A371V|MECOM_uc011bpk.1_Missense_Mutation_p.A211V|MECOM_uc010hwn.2_Missense_Mutation_p.A399V	NM_004991	NP_004982	Q13465	MDS1_HUMAN	Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA.	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						TCTGCAATCAGCATGCATGCG	0.418000														84			56		0	0	1	0	0
PRLR	5618	broad.mit.edu	37	5	35070320	35070320	+	Missense_Mutation	SNP	A	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:35070320A>T	uc003jjm.3	-	6	1150	c.591T>A	c.(589-591)caT>caA	p.H197Q	PRLR_uc003jjk.1_Missense_Mutation_p.H126Q|PRLR_uc003jjg.2_Missense_Mutation_p.H197Q|PRLR_uc003jjh.2_Missense_Mutation_p.H197Q|PRLR_uc003jji.2_Missense_Mutation_p.H126Q|PRLR_uc003jjj.2_Missense_Mutation_p.H197Q|PRLR_uc003jjl.4_Missense_Mutation_p.H96Q|PRLR_uc021xxl.1_Missense_Mutation_p.H197Q|PRLR_uc010iuw.1_Missense_Mutation_p.H126Q	NM_000949	NP_000940	P16471	PRLR_HUMAN	Homo sapiens prolactin receptor (PRLR), transcript variant 1, mRNA.	197	Fibronectin type-III 2.				T cell activation|activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity	p.H197Y(1)		central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	TCTGTCCTGGATGTAGGCTGA	0.438000														39			21		0	0	1	0	0
RHAG	6005	broad.mit.edu	37	6	49585861	49585861	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:49585861G>A	uc003ozk.4	-	2	474	c.412C>T	c.(412-414)Ccc>Tcc	p.P138S	RHAG_uc010jzl.3_Missense_Mutation_p.P138S|RHAG_uc010jzm.3_Missense_Mutation_p.P138S	NM_000324	NP_000315	Q02094	RHAG_HUMAN	Homo sapiens Rh-associated glycoprotein (RHAG), mRNA.	138					carbon dioxide transport|cellular ion homeostasis	integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	39	Lung NSC(77;0.0255)					ATTTGGGTGGGGCTCGTTTTT	0.368000														29			11		0	0	1	0	0
GDF5	8200	broad.mit.edu	37	20	34025186	34025186	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:34025186A>G	uc010gfc.1	-	0	764	c.523T>C	c.(523-525)Tcg>Ccg	p.S175P	GDF5_uc002xck.1_Missense_Mutation_p.S175P	NM_000557	NP_000548	P43026	GDF5_HUMAN	Homo sapiens growth differentiation factor 5 (GDF5), mRNA.	175					cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3)	26	Lung NSC(9;0.00642)|all_lung(11;0.0094)		BRCA - Breast invasive adenocarcinoma(18;0.00663)			CTGTACAGCGAGAGCATGTAC	0.612000														46			26		0	0	1	0	0
MAP3K4	4216	broad.mit.edu	37	6	161508878	161508878	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:161508878G>A	uc003qtn.3	+	9	2857	c.2715G>A	c.(2713-2715)aaG>aaA	p.K905K	MAP3K4_uc010kkc.1_Silent_p.K905K|MAP3K4_uc003qto.3_Silent_p.K905K|MAP3K4_uc011efz.2_Non-coding_Transcript|MAP3K4_uc011ega.2_Silent_p.K358K	NM_005922	NP_005913	Q9Y6R4	M3K4_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 4 (MAP3K4), transcript variant 1, mRNA.	905					JNK cascade|activation of MAPKK activity|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		TTCTGACCAAGCACGGTGATC	0.507000														50			4		0	0	1	0	0
ZNF177	7730	broad.mit.edu	37	19	9492206	9492206	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9492206A>G	uc021uon.1	+	5	1360	c.1199A>G	c.(1198-1200)cAg>cGg	p.Q400R	ZNF177_uc002mli.3_Missense_Mutation_p.Q240R|ZNF177_uc002mlj.3_3'UTR|ZNF177_uc002mlk.3_Missense_Mutation_p.Q240R	NM_001172651	NP_001166122	Q13360	ZN177_HUMAN	Homo sapiens zinc finger protein 177 (ZNF177), transcript variant 1, mRNA.	240					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|stomach(2)	13						GAGTGTAACCAGTGTGGAAAG	0.458000														136			11		0	0	1	0	0
TERF2	7014	broad.mit.edu	37	16	69400902	69400902	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:69400902G>A	uc002exd.3	-	6	1148	c.1022C>T	c.(1021-1023)cCg>cTg	p.P341L		NM_005652	NP_005643	Q15554	TERF2_HUMAN	Homo sapiens telomeric repeat binding factor 2 (TERF2), mRNA.	341					age-dependent telomere shortening|cell cycle|cellular senescence|negative regulation of telomere maintenance via semi-conservative replication|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of transcription, DNA-dependent|telomeric loop formation	Golgi apparatus|nuclear telomere cap complex|nucleoplasm	double-stranded telomeric DNA binding|protein C-terminus binding|protein homodimerization activity			NS(2)|breast(1)|large_intestine(3)|lung(1)	7		Ovarian(137;0.101)				ACCGTCAGCCGGGGCTGAACT	0.537000														63			12		0	0	1	0	0
RAB2A	5862	broad.mit.edu	37	8	61533300	61533300	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:61533300G>A	uc003xud.2	+	7	909	c.611G>A	c.(610-612)gGa>gAa	p.G204E	RAB2A_uc011lef.2_Missense_Mutation_p.G180E	NM_002865	NP_002856	P61019	RAB2A_HUMAN	Homo sapiens RAB2A, member RAS oncogene family (RAB2A), transcript variant 1, mRNA.	204					ER to Golgi vesicle-mediated transport|protein transport|small GTPase mediated signal transduction	ER-Golgi intermediate compartment membrane|Golgi membrane|endoplasmic reticulum membrane|melanosome	GDP binding|GTP binding|GTPase activity			endometrium(1)|large_intestine(1)|lung(4)	6			BRCA - Breast invasive adenocarcinoma(89;0.0805)			AATCAGGGAGGACAGCAGGCT	0.493000														31			14		0	0	1	0	0
OR52W1	120787	broad.mit.edu	37	11	6221156	6221156	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6221156A>G	uc010qzz.2	+	0	703	c.703A>G	c.(703-705)Acc>Gcc	p.T235A		NM_001005178	NP_001005178	Q6IF63	O52W1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily W, member 1 (OR52W1), mRNA.	235					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)	11		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;2.13e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCAGCTACCTACCCGGGAGGC	0.517000														193			19		0	0	1	0	0
SEH1L	81929	broad.mit.edu	37	18	12948202	12948202	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:12948202G>A	uc002krq.3	+	0	220	c.82G>A	c.(82-84)Gca>Aca	p.A28T	SEH1L_uc002krr.3_Missense_Mutation_p.A28T	NM_001013437	NP_001013455	Q96EE3	SEH1_HUMAN	Homo sapiens SEH1-like (S. cerevisiae) (SEH1L), transcript variant 1, mRNA.	28					attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|carbohydrate metabolic process|cell division|glucose transport|mRNA transport|mitotic metaphase plate congression|mitotic prometaphase|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	Nup107-160 complex|condensed chromosome kinetochore|cytosol				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	11						GCGGCGGATGGCAACCTGCTC	0.677000														13			11		0	0	1	0	0
VWA3A	146177	broad.mit.edu	37	16	22152906	22152906	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:22152906C>T	uc010vbq.2	+	23	2483	c.2387C>T	c.(2386-2388)gCg>gTg	p.A796V	VWA3A_uc010bxd.3_Non-coding_Transcript|VWA3A_uc002dkg.4_5'Flank	NM_173615	NP_775886	A6NCI4	VWA3A_HUMAN	Homo sapiens von Willebrand factor A domain containing 3A (VWA3A), mRNA.	796						extracellular region				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		TCCTCAGCTGCGGCCCAGCCA	0.488000														10			3		0	0	1	0	0
CRELD1	78987	broad.mit.edu	37	3	9982636	9982636	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:9982636G>T	uc003buf.3	+	5	662	c.563G>T	c.(562-564)gGg>gTg	p.G188V	CIDEC_uc003bto.3_Intron|CRELD1_uc003buh.3_Missense_Mutation_p.G188V|CRELD1_uc003bug.3_Missense_Mutation_p.G188V	NM_001031717	NP_001026887	Q96HD1	CREL1_HUMAN	Homo sapiens cysteine-rich with EGF-like domains 1 (CRELD1), transcript variant 1, mRNA.	188	EGF-like 1.				cardiac septum development|endocardial cushion development	integral to membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|urinary_tract(1)	14						GCCGGCTACGGGGGTGAGGCC	0.632000														51			8		0.000157383	0.000170012	1	1	0
FAT4	79633	broad.mit.edu	37	4	126241177	126241177	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:126241177A>C	uc003ifj.4	+	0	3611	c.3611A>C	c.(3610-3612)aAt>aCt	p.N1204T		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	1204	Cadherin 11.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AAGGATATAAATGATAATGCT	0.408000														68			5		0	0	1	0	0
CACNA1D	776	broad.mit.edu	37	3	53756346	53756346	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:53756346G>A	uc003dgv.4	+	11	1674	c.1511G>A	c.(1510-1512)cGc>cAc	p.R504H	CACNA1D_uc003dgu.4_Missense_Mutation_p.R524H|CACNA1D_uc003dgy.4_Missense_Mutation_p.R504H|CACNA1D_uc003dgw.4_Missense_Mutation_p.R171H	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1D subunit (CACNA1D), transcript variant 2, mRNA.	504					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	TTTAGCCGACGCTGGCGTCGC	0.458000														30			17		0	0	1	0	0
HNRNPU	3192	broad.mit.edu	37	1	245018277	245018277	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:245018277C>A	uc001iaz.1	-	12	2640	c.2422G>T	c.(2422-2424)Ggt>Tgt	p.G808C	HNRNPU_uc001iay.1_Missense_Mutation_p.G532C|HNRNPU_uc001iba.1_Missense_Mutation_p.G789C	NM_031844	NP_114032	Q00839	HNRPU_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A) (HNRNPU), transcript variant 1, mRNA.	808	Gly-rich.				CRD-mediated mRNA stabilization	CRD-mediated mRNA stability complex|catalytic step 2 spliceosome|cell surface|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	ATP binding|DNA binding|RNA binding|protein binding			NS(1)|endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.00868)			TTACTTACACCCTGCTGCCAC	0.368000														65			6		0.0215528	0.0220531	1	1	0
SYT10	341359	broad.mit.edu	37	12	33535302	33535302	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:33535302G>A	uc001rll.1	-	4	1649	c.1352C>T	c.(1351-1353)gCg>gTg	p.A451V	SYT10_uc009zju.1_Missense_Mutation_p.A261V	NM_198992	NP_945343	Q6XYQ8	SYT10_HUMAN	Homo sapiens synaptotagmin X (SYT10), mRNA.	451	C2 2.					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					ATCCATGACCGCAATGGAGAG	0.448000														36			28		0	0	1	0	0
APPL2	55198	broad.mit.edu	37	12	105611477	105611477	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:105611477C>T	uc010swu.1	-	2	398	c.180G>A	c.(178-180)caG>caA	p.Q60Q	APPL2_uc010swt.2_Silent_p.Q17Q|APPL2_uc001tlf.1_Silent_p.Q60Q|APPL2_uc001tlg.1_5'UTR|APPL2_uc009zuq.3_Silent_p.Q17Q	NM_001251904	NP_001238833	Q8NEU8	DP13B_HUMAN	Homo sapiens adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2 (APPL2), transcript variant 2, mRNA.	60	Required for RAB5A binding (By similarity).				cell cycle|cell proliferation|signal transduction	early endosome membrane|nucleus	protein binding			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						GCTTAGAAAGCTGTTGTGTGG	0.413000														60			7		0	0	1	0	0
GRIK3	2899	broad.mit.edu	37	1	37356573	37356573	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:37356573G>T	uc001caz.2	-	1	375	c.240C>A	c.(238-240)acC>acA	p.T80T	GRIK3_uc001cba.1_Silent_p.T80T	NM_000831	NP_000822	Q13003	GRIK3_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 3 (GRIK3), mRNA.	80					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	G-protein-coupled receptor binding|adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|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)	GTATGTCATAGGTCAAGGTTG	0.547000														71			49		2.43468e-25	3.18552e-25	1	1	0
CCDC113	29070	broad.mit.edu	37	16	58313629	58313629	+	Missense_Mutation	SNP	G	A	A	rs146122026		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:58313629G>A	uc002ene.3	+	8	1161	c.1082G>A	c.(1081-1083)cGa>cAa	p.R361Q	CCDC113_uc010vid.2_Missense_Mutation_p.R307Q	NM_014157	NP_054876	Q9H0I3	CC113_HUMAN	Homo sapiens coiled-coil domain containing 113 (CCDC113), transcript variant 1, mRNA.	361						protein complex		p.R361Q(2)		large_intestine(4)|lung(6)|ovary(1)|urinary_tract(1)	12						GCTTGGAATCGAATGAAAATA	0.413000														19			15		0	0	1	0	0
CYP4X1	260293	broad.mit.edu	37	1	47501531	47501531	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:47501531G>T	uc001cqt.3	+	4	796	c.546G>T	c.(544-546)gaG>gaT	p.E182D	CYP4X1_uc001cqr.3_Missense_Mutation_p.E181D|CYP4X1_uc001cqs.3_Missense_Mutation_p.E117D	NM_178033	NP_828847	Q8N118	CP4X1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily X, polypeptide 1 (CYP4X1), mRNA.	182						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						AGGTCTATGAGCACATCAACT	0.483000														28			20		8.04996e-18	1.02859e-17	1	1	0
PSMB4	5692	broad.mit.edu	37	1	151372573	151372573	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:151372573G>A	uc001eyc.1	+	1	280	c.257G>A	c.(256-258)cGc>cAc	p.R86H	PSMB4_uc010pda.2_Missense_Mutation_p.R86H	NM_002796	NP_002787	P28070	PSB4_HUMAN	Homo sapiens proteasome (prosome, macropain) subunit, beta type, 4 (PSMB4), mRNA.	86					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|interspecies interaction between organisms|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity			endometrium(1)|lung(9)|ovary(2)|prostate(1)|skin(1)	14	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			AACATCTCTCGCATTATGCGA	0.547000														138			101		0	0	1	0	0
TCEANC	170082	broad.mit.edu	37	X	13681173	13681173	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:13681173C>T	uc010neg.1	+	3	881	c.636C>T	c.(634-636)taC>taT	p.Y212Y	TCEANC_uc010nef.1_Silent_p.Y182Y|TCEANC_uc010nee.2_Silent_p.Y182Y|TCEANC_uc004cvk.2_Silent_p.Y182Y|TCEANC_uc004cvl.3_Non-coding_Transcript	NM_152634	NP_689847	Q8N8B7	TEANC_HUMAN	Homo sapiens transcription elongation factor A (SII) N-terminal and central domain containing (TCEANC), mRNA.	182	TFIIS central.				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding			central_nervous_system(1)|large_intestine(5)|lung(2)|pancreas(1)	9						AGCTTCTTTACGCAGCTTTAA	0.423000														131			16		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179424591	179424591	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179424591A>G	uc021vsy.1	-	274	78789	c.78564T>C	c.(78562-78564)atT>atC	p.I26188I	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.I19883I|TTN_uc021vta.1_Silent_p.I19816I|TTN_uc021vtb.1_Silent_p.I19691I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	27115	Fibronectin type-III 90.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R26187Q(1)		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)			TTTCACTGTCAATATCAAATA	0.438000														121			13		0	0	1	0	0
DDX53	168400	broad.mit.edu	37	X	23018282	23018282	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:23018282C>T	uc004daj.3	+	0	205	c.108C>T	c.(106-108)ttC>ttT	p.F36F		NM_182699	NP_874358	Q86TM3	DDX53_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 53 (DDX53), mRNA.	36						nucleus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(5)|kidney(4)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	35						GTGGCCCCTTCGGCCATCAGG	0.572000														22			12		0	0	1	0	0
PPP1R3F	89801	broad.mit.edu	37	X	49143182	49143182	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:49143182T>C	uc004dnh.2	+	3	2057	c.2030T>C	c.(2029-2031)gTc>gCc	p.V677A	PPP1R3F_uc004dni.3_Missense_Mutation_p.V331A|PPP1R3F_uc011mnd.2_Missense_Mutation_p.V348A|PPP1R3F_uc004dnj.2_Missense_Mutation_p.V331A	NM_033215	NP_149992	Q6ZSY5	PPR3F_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3F (PPP1R3F), transcript variant 1, mRNA.	677						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(4)	27	Ovarian(276;0.236)					CAGATAGAGGTCACCAGTGAG	0.592000														12			6		0	0	1	0	0
PML	5371	broad.mit.edu	37	15	74337240	74337240	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:74337240G>T	uc002awv.3	+	8	2680	c.2540G>T	c.(2539-2541)gGc>gTc	p.G847V	PML_uc002awu.3_Missense_Mutation_p.G799V|PML_uc010ule.2_Missense_Mutation_p.G408V	NM_033238	NP_150241	P29590	PML_HUMAN	Homo sapiens promyelocytic leukemia (PML), transcript variant 1, mRNA.	847					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 resulting in induction of apoptosis|PML body organization|cell cycle arrest|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	PML body|cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus	DNA binding|SUMO binding|cobalt ion binding|protein binding|protein heterodimerization activity|protein homodimerization activity|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						CAGGCTCTGGGCACCTACTTT	0.652000			T	"""RARA, PAX5"""	"""APL, ALL"""									50			22		3.28513e-13	4.08142e-13	1	1	0
FNDC3A	22862	broad.mit.edu	37	13	49765489	49765489	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:49765489G>A	uc001vcm.3	+	18	2500	c.2195G>A	c.(2194-2196)aGc>aAc	p.S732N	FNDC3A_uc001vcn.3_Missense_Mutation_p.S732N|FNDC3A_uc001vco.3_Non-coding_Transcript|FNDC3A_uc001vcq.3_Missense_Mutation_p.S676N	NM_001079673	NP_001073141	Q9Y2H6	FND3A_HUMAN	Homo sapiens fibronectin type III domain containing 3A (FNDC3A), transcript variant 1, mRNA.	732	Fibronectin type-III 5.					Golgi membrane|integral to membrane				endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		AAGACATACAGCTTCAGACTA	0.378000														39			39		0	0	1	0	0
CRYBA4	1413	broad.mit.edu	37	22	27021500	27021500	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:27021500G>T	uc003acz.4	+	3	249	c.214G>T	c.(214-216)Ggc>Tgc	p.G72C		NM_001886	NP_001877	P53673	CRBA4_HUMAN	Homo sapiens crystallin, beta A4 (CRYBA4), mRNA.	72	Beta/gamma crystallin 'Greek key' 2.				camera-type eye development|visual perception	soluble fraction	structural constituent of eye lens	p.R71*(1)		large_intestine(6)|liver(1)|lung(6)|skin(3)|urinary_tract(2)	18						TCTGGAACGAGGCGAATATCC	0.617000														173			12		5.50884e-06	6.15991e-06	1	1	0
GLOD4	51031	broad.mit.edu	37	17	674702	674702	+	Splice_Site	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:674702C>T	uc002frv.3	-	6	528	c.452_splice	c.e6-1	p.D151_splice	GLOD4_uc002frt.3_Splice_Site_p.D80_splice|GLOD4_uc002fru.3_Splice_Site_p.D136_splice|GLOD4_uc010vqc.2_Splice_Site_p.D127_splice	NM_016080	NP_057164	Q9HC38	GLOD4_HUMAN	Homo sapiens glyoxalase domain containing 4 (GLOD4), mRNA.	151						mitochondrion				endometrium(1)|large_intestine(1)|prostate(1)	3				UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		aatacaggatctgttgggtaa	0.313000														65			46		0	0	1	0	0
PPAPDC1B	84513	broad.mit.edu	37	8	38124795	38124795	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:38124795T>C	uc003xlf.4	-	4	474	c.453A>G	c.(451-453)ggA>ggG	p.G151G	PPAPDC1B_uc003xle.4_Silent_p.G110G|PPAPDC1B_uc003xlg.4_Silent_p.G151G|PPAPDC1B_uc010lwd.3_Silent_p.G151G	NM_001102559	NP_001096029	Q8NEB5	PPC1B_HUMAN	Homo sapiens phosphatidic acid phosphatase type 2 domain containing 1B (PPAPDC1B), transcript variant 1, mRNA.	151	Phosphatase sequence motif II.				phospholipid dephosphorylation	cytoplasm|integral to membrane|plasma membrane	phosphatidate phosphatase activity			kidney(1)|lung(1)	2	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.121)	BRCA - Breast invasive adenocarcinoma(5;3.04e-26)|COAD - Colon adenocarcinoma(9;0.188)			AGGAAGAATGTCCACTGGGGA	0.453000														31			25		0	0	1	0	0
SCP2	6342	broad.mit.edu	37	1	53416537	53416537	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:53416537G>A	uc001cur.2	+	3	478	c.310G>A	c.(310-312)Gcc>Acc	p.A104T	SCP2_uc010ono.2_Missense_Mutation_p.A23T|SCP2_uc010onp.2_Missense_Mutation_p.A80T|SCP2_uc009vzi.2_Intron|SCP2_uc001cus.2_5'UTR|SCP2_uc001cuq.2_Intron	NM_002979	NP_001180546	P22307	NLTP_HUMAN	Homo sapiens sterol carrier protein 2 (SCP2), transcript variant 1, mRNA.	104					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase|lipid transport	mitochondrion|nucleus|peroxisomal matrix	propanoyl-CoA C-acyltransferase activity|propionyl-CoA C2-trimethyltridecanoyltransferase activity|protein binding|sterol binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	15						TTTGTTTATGGCCCGCCAGCT	0.413000														88			55		0	0	1	0	0
SMAD2	4087	broad.mit.edu	37	18	45374854	45374854	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:45374854C>A	uc002lcy.3	-	7	1237	c.989G>T	c.(988-990)aGg>aTg	p.R330M	SMAD2_uc002lcz.3_Missense_Mutation_p.R330M|SMAD2_uc010xdc.2_Missense_Mutation_p.R300M|SMAD2_uc010xdd.1_Missense_Mutation_p.R300M	NM_005901	NP_005892	Q15796	SMAD2_HUMAN	Homo sapiens SMAD family member 2 (SMAD2), transcript variant 1, mRNA.	330	MH2.				SMAD protein complex assembly|anterior/posterior pattern formation|cell fate commitment|common-partner SMAD protein phosphorylation|intracellular signal transduction|mesoderm formation|negative regulation of transcription, DNA-dependent|palate development|paraxial mesoderm morphogenesis|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|regulation of binding|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis	activin responsive factor complex|cytosol	I-SMAD binding|R-SMAD binding|activating transcription factor binding|co-SMAD binding|double-stranded DNA binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(21)|liver(1)|lung(8)|prostate(2)|urinary_tract(1)	43						ACCTATATGCCTTCTTGTCAT	0.398000														82			8		0.335167	0.336322	1	1	0
RERE	473	broad.mit.edu	37	1	8617555	8617555	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:8617555C>T	uc001ape.3	-	5	1360	c.550G>A	c.(550-552)Gtc>Atc	p.V184I	RERE_uc001apf.3_Missense_Mutation_p.V184I|RERE_uc001aph.1_Missense_Mutation_p.V184I	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN	Homo sapiens arginine-glutamic acid dipeptide (RE) repeats (RERE), transcript variant 1, mRNA.	184	BAH.				NLS-bearing substrate import into nucleus|multicellular organismal development	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		TACCATTTGACGTTCATGAGG	0.418000														32			19		0	0	1	0	0
PDLIM1	9124	broad.mit.edu	37	10	97028547	97028547	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:97028547G>T	uc001kkh.3	-	2	430	c.321C>A	c.(319-321)gcC>gcA	p.A107A		NM_020992	NP_066272	O00151	PDLI1_HUMAN	Homo sapiens PDZ and LIM domain 1 (PDLIM1), mRNA.	107					response to oxidative stress	cytoplasm|cytoskeleton	zinc ion binding			endometrium(1)|large_intestine(5)|lung(1)|ovary(1)|skin(2)	10		Colorectal(252;0.083)		Epithelial(162;1.64e-06)|all cancers(201;3.71e-05)		GGGGTTCAGAGGCTAAATTCA	0.488000														61			10		1.58986e-06	1.80238e-06	1	1	0
LRRC4B	94030	broad.mit.edu	37	19	51022065	51022065	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:51022065C>T	uc002pss.3	-	2	1042	c.905G>A	c.(904-906)cGc>cAc	p.R302H		NM_001080457	NP_001073926	Q9NT99	LRC4B_HUMAN	Homo sapiens leucine rich repeat containing 4B (LRRC4B), mRNA.	302						cell junction|integral to membrane|presynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		GCGCTCGAGGCGGTGCAGGGG	0.637000														50			36		0	0	1	0	0
TAF9	6880	broad.mit.edu	37	5	68648055	68648055	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:68648055C>A	uc003jwa.3	-	4	444	c.352G>T	c.(352-354)Gac>Tac	p.D118Y	TAF9_uc003jwb.3_Missense_Mutation_p.D115Y	NM_016283	NP_057367	Q9Y3D8	KAD6_HUMAN	Homo sapiens TAF9 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 32kDa (TAF9), transcript variant 2, mRNA.	118						Cajal body	ATP binding|adenylate kinase activity|protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	8		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.1e-56)|Epithelial(20;9.54e-53)|all cancers(19;2.2e-48)|Lung(70;0.0176)		TGAATATTGTCTGTTAGTTTC	0.383000														46			4		1.23904e-05	1.3743e-05	1	1	0
DNMT1	1786	broad.mit.edu	37	19	10265644	10265644	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10265644A>G	uc002mng.3	-	18	1713	c.1533T>C	c.(1531-1533)atT>atC	p.I511I	DNMT1_uc010xlc.2_Silent_p.I527I|DNMT1_uc002mnh.3_Silent_p.I406I|DNMT1_uc010xld.2_Silent_p.I511I	NM_001379	NP_001370	P26358	DNMT1_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 1 (DNMT1), transcript variant 2, mRNA.	511	DNA replication foci-targeting sequence (By similarity).|Interaction with the PRC2/EED-EZH2 complex (By similarity).				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	ACTCCACCACAATCTTGCTGA	0.512000														43			34		0	0	1	0	0
STXBP5L	9515	broad.mit.edu	37	3	121126125	121126125	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:121126125T>C	uc003eec.4	+	23	2835	c.2695T>C	c.(2695-2697)Ttc>Ctc	p.F899L	STXBP5L_uc011bji.2_Missense_Mutation_p.F875L	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA.	899					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		TGTGCTAACATTCTCCTGTAT	0.373000														60			6		0	0	1	0	0
SRCAP	10847	broad.mit.edu	37	16	30722093	30722093	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:30722093G>A	uc002dze.1	+	8	1538	c.1153G>A	c.(1153-1155)Gct>Act	p.A385T	SRCAP_uc021tgn.1_Missense_Mutation_p.A385T|SRCAP_uc002dzf.3_Non-coding_Transcript|SRCAP_uc002dzg.1_Missense_Mutation_p.A242T	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Homo sapiens Snf2-related CREBBP activator protein (SRCAP), mRNA.	385	Glu-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CCCACCCTCTGCTGTCACACA	0.463000														27			25		0	0	1	0	0
NUP210	23225	broad.mit.edu	37	3	13407522	13407522	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:13407522G>A	uc003bxv.1	-	13	1939	c.1856C>T	c.(1855-1857)aCg>aTg	p.T619M	NUP210_uc003bxx.3_Missense_Mutation_p.T291M	NM_024923	NP_079199	Q8TEM1	PO210_HUMAN	Homo sapiens nucleoporin 210kDa (NUP210), mRNA.	619					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					CACAAGAAGCGTGGTAGAGCC	0.617000														52			4		0	0	1	0	0
TAB3	257397	broad.mit.edu	37	X	30872594	30872594	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:30872594T>C	uc004dcj.3	-	5	1851	c.1188A>G	c.(1186-1188)caA>caG	p.Q396Q	TAB3_uc004dck.3_Silent_p.Q396Q|TAB3_uc010ngl.3_Silent_p.Q396Q	NM_152787	NP_690000	Q8N5C8	TAB3_HUMAN	Homo sapiens TGF-beta activated kinase 1/MAP3K7 binding protein 3 (TAB3), mRNA.	396	Pro-rich.				I-kappaB kinase/NF-kappaB cascade|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|innate immune response|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|skin(1)	27						ACAGTGAGTGTTGATTCCATG	0.413000														92			41		0	0	1	0	0
KRT78	196374	broad.mit.edu	37	12	53242560	53242560	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:53242560C>T	uc001sbc.1	-	0	219	c.155G>A	c.(154-156)cGt>cAt	p.R52H		NM_173352	NP_775487	Q8N1N4	K2C78_HUMAN	Homo sapiens keratin 78 (KRT78), mRNA.	52	Gly-rich.|Head.					keratin filament	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						GGTACTCCCACGAGAGCCTTC	0.672000														10			6		0	0	1	0	0
GNL3	26354	broad.mit.edu	37	3	52724697	52724697	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52724697A>C	uc003dfd.3	+	6	804	c.631A>C	c.(631-633)Aag>Cag	p.K211Q	GNL3_uc011beh.1_Non-coding_Transcript|GNL3_uc003dfe.3_Missense_Mutation_p.K199Q|GNL3_uc003dff.3_Missense_Mutation_p.K199Q|SNORD19B_uc010hml.1_5'Flank|SNORD69_uc003dfh.1_5'Flank	NM_014366	NP_996562	Q9BVP2	GNL3_HUMAN	Homo sapiens guanine nucleotide binding protein-like 3 (nucleolar) (GNL3), transcript variant 1, mRNA.	211					regulation of cell proliferation	nucleolus	GTP binding|protein binding			breast(4)|endometrium(3)|large_intestine(3)|lung(2)	12				BRCA - Breast invasive adenocarcinoma(193;6.75e-05)|Kidney(197;0.000611)|KIRC - Kidney renal clear cell carcinoma(197;0.000773)|OV - Ovarian serous cystadenocarcinoma(275;0.048)		AACAAAACCAAAGGATAAAGG	0.353000														193			20		0	0	1	0	0
ZNF12	7559	broad.mit.edu	37	7	6736973	6736973	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:6736973G>A	uc003sqt.1	-	3	789	c.235C>T	c.(235-237)Cca>Tca	p.P79S	ZNF12_uc011jxa.1_5'UTR|ZNF12_uc003sqs.1_Missense_Mutation_p.P79S	NM_016265	NP_057349	P17014	ZNF12_HUMAN	Homo sapiens zinc finger protein 12 (ZNF12), transcript variant 1, mRNA.	79	KRAB.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3)	16		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		AACACACCTGGATAGCTCTGA	0.433000														19			4		0	0	1	0	0
LAMB2	3913	broad.mit.edu	37	3	49169107	49169107	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49169107C>T	uc003cwe.3	-	4	808	c.509G>A	c.(508-510)cGc>cAc	p.R170H	LAMB2_uc003cwf.1_Missense_Mutation_p.R170H	NM_002292	NP_002283	P55268	LAMB2_HUMAN	Homo sapiens laminin, beta 2 (laminin S) (LAMB2), mRNA.	170	Laminin N-terminal.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		ATGCCAGGTGCGGCCAAAGTC	0.592000														48			29		0	0	1	0	0
SLC24A3	57419	broad.mit.edu	37	20	19665995	19665995	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:19665995C>T	uc002wrl.3	+	11	1511	c.1314C>T	c.(1312-1314)ttC>ttT	p.F438F		NM_020689	NP_065740	Q9HC58	NCKX3_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 (SLC24A3), mRNA.	438						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						ACACACCATTCGACACCCCCT	0.468000														49			30		0	0	1	0	0
MYOC	4653	broad.mit.edu	37	1	171605812	171605812	+	Silent	SNP	C	T	T	rs142461632	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:171605812C>T	uc001ghu.3	-	2	790	c.768G>A	c.(766-768)acG>acA	p.T256T	MYOC_uc010pmk.2_Silent_p.T198T	NM_000261	NP_000252	Q99972	MYOC_HUMAN	Homo sapiens myocilin, trabecular meshwork inducible glucocorticoid response (MYOC), mRNA.	256	Olfactomedin-like.				anatomical structure morphogenesis	cilium|extracellular space|rough endoplasmic reticulum	structural molecule activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2)	28	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					CTGTTCTCAGCGTGAGAGGCT	0.478000														80			6		0	0	1	0	0
RBMS1	5937	broad.mit.edu	37	2	161159998	161159998	+	Splice_Site	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:161159998G>A	uc002ubo.3	-	5	847	c.403_splice	c.e5-1	p.Q135_splice	RBMS1_uc002ubn.3_Splice_Site_p.Q135_splice|RBMS1_uc002ubi.4_Splice_Site_p.Q135_splice|RBMS1_uc002ubm.3_Splice_Site_p.Q102_splice|RBMS1_uc002ubp.3_Splice_Site_p.Q135_splice|RBMS1_uc010fox.2_Splice_Site_p.Q135_splice	NM_016836	NP_058520	P29558	RBMS1_HUMAN	Homo sapiens RNA binding motif, single stranded interacting protein 1 (RBMS1), transcript variant 1, mRNA.	135	RRM 1.				DNA replication|RNA processing	nucleus	RNA binding|double-stranded DNA binding|nucleotide binding|protein binding|single-stranded DNA binding		PLA2R1/RBMS1(2)								TGTTCCTGTTGCTAAAACAGA	0.358000														88			9		0	0	1	0	0
DNPEP	23549	broad.mit.edu	37	2	220251124	220251124	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:220251124G>A	uc002vle.2	-	4	489	c.343C>T	c.(343-345)Cgg>Tgg	p.R115W	DNPEP_uc002vli.2_Missense_Mutation_p.R62W|DNPEP_uc010zlg.2_Missense_Mutation_p.R123W|DNPEP_uc002vlj.2_Missense_Mutation_p.R105W	NM_012100	NP_036232	Q9ULA0	DNPEP_HUMAN	Homo sapiens aspartyl aminopeptidase (DNPEP), mRNA.	105					peptide metabolic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Renal(207;0.0474)		Epithelial(149;1.09e-06)|all cancers(144;0.000179)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	L-Glutamic Acid(DB00142)	CGGCGAGACCGACGTTTCACC	0.527000														46			31		0	0	1	0	0
MED12	9968	broad.mit.edu	37	X	70349265	70349265	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:70349265C>A	uc004dyy.3	+	25	3876	c.3677C>A	c.(3676-3678)gCt>gAt	p.A1226D	MED12_uc011mpq.1_Missense_Mutation_p.A1226D|MED12_uc004dyz.3_Missense_Mutation_p.A1226D|MED12_uc004dza.3_Missense_Mutation_p.A1073D|MED12_uc010nla.3_5'Flank	NM_005120	NP_005111	Q93074	MED12_HUMAN	Homo sapiens mediator complex subunit 12 (MED12), mRNA.	1226					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					GTTCTCAAGGCTGTGTTTGTA	0.562000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome				OREG0019857	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		16			20		4.35082e-09	5.154e-09	1	1	0
TRIML1	339976	broad.mit.edu	37	4	189068102	189068102	+	Missense_Mutation	SNP	C	T	T	rs147254109		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:189068102C>T	uc003izm.1	+	5	1098	c.983C>T	c.(982-984)gCg>gTg	p.A328V	TRIML1_uc003izn.1_Missense_Mutation_p.A52V	NM_178556	NP_848651	Q8N9V2	TRIML_HUMAN	Homo sapiens tripartite motif family-like 1 (TRIML1), mRNA.	328	B30.2/SPRY.				multicellular organismal development		ligase activity|zinc ion binding	p.A328V(2)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		GACCAGTCTGCGACTGTGCTG	0.537000														45			32		0	0	1	0	0
THOC5	8563	broad.mit.edu	37	22	29904471	29904471	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:29904471G>A	uc003afr.3	-	20	2362	c.2027C>T	c.(2026-2028)cCt>cTt	p.P676L	THOC5_uc003afq.3_Missense_Mutation_p.P337L|THOC5_uc003afs.3_Missense_Mutation_p.P676L|THOC5_uc003aft.3_Missense_Mutation_p.P676L|THOC5_uc003afu.3_Missense_Mutation_p.P676L	NM_001002878	NP_003669	Q13769	THOC5_HUMAN	Homo sapiens THO complex 5 (THOC5), transcript variant 1, mRNA.	676					RNA splicing|intronless viral mRNA export from host nucleus|mRNA processing|monocyte differentiation|primitive hemopoiesis	THO complex part of transcription export complex|cytoplasm|intermediate filament cytoskeleton	RNA binding|protein binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GAATCCCTGAGGATGGTTGTA	0.488000														20			12		0	0	1	0	0
KIAA1377	57562	broad.mit.edu	37	11	101834222	101834222	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:101834222C>A	uc001pgm.3	+	5	2726	c.2456C>A	c.(2455-2457)tCt>tAt	p.S819Y	KIAA1377_uc001pgn.3_Missense_Mutation_p.S775Y|KIAA1377_uc010run.2_Missense_Mutation_p.S620Y|KIAA1377_uc009yxa.1_Missense_Mutation_p.S620Y	NM_020802	NP_065853	Q9P2H0	K1377_HUMAN	Homo sapiens KIAA1377 (KIAA1377), mRNA.	819							protein binding			breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		ATACAAGTGTCTCAGTGTCAA	0.328000														61			9		2.17888e-05	2.40634e-05	1	1	0
ZNF425	155054	broad.mit.edu	37	7	148809279	148809279	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:148809279G>T	uc003wfj.3	-	2	387	c.254C>A	c.(253-255)cCt>cAt	p.P85H		NM_001001661	NP_001001661	Q6IV72	ZN425_HUMAN	Homo sapiens zinc finger protein 425 (ZNF425), mRNA.	85					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	p.P84H(1)		breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			TTCATCAGTAGGAGGGCTAGT	0.373000														189			10		0.000442599	0.000473562	1	1	0
CAMK1G	57172	broad.mit.edu	37	1	209779784	209779784	+	Silent	SNP	C	T	T	rs148684307	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:209779784C>T	uc001hhd.3	+	5	657	c.555C>T	c.(553-555)taC>taT	p.Y185Y	CAMK1G_uc001hhf.4_Silent_p.Y185Y|CAMK1G_uc001hhe.3_Silent_p.Y185Y	NM_020439	NP_065172	Q96NX5	KCC1G_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase IG (CAMK1G), mRNA.	185	Protein kinase.					Golgi membrane|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|central_nervous_system(1)|large_intestine(8)|lung(8)|stomach(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.0475)		CCCCAGGCTACGTGGGTAAGT	0.488000														58			37		0	0	1	0	0
COL7A1	1294	broad.mit.edu	37	3	48609476	48609476	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:48609476A>G	uc003ctz.2	-	90	7027	c.7026T>C	c.(7024-7026)ggT>ggC	p.G2342G		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA.	2342	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GGCCAGCTTCACCCTGCACAG	0.662000														11			4		0	0	1	0	0
PIP5K1C	23396	broad.mit.edu	37	19	3643317	3643317	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:3643317C>T	uc002lyj.2	-	12	1662	c.1573G>A	c.(1573-1575)Gcc>Acc	p.A525T	PIP5K1C_uc010xhq.2_Missense_Mutation_p.A525T|PIP5K1C_uc010xhr.2_Missense_Mutation_p.A525T	NM_012398	NP_036530	O60331	PI51C_HUMAN	Homo sapiens phosphatidylinositol-4-phosphate 5-kinase, type I, gamma (PIP5K1C), transcript variant 2, mRNA.	525					axon guidance	cytosol|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding			large_intestine(3)|ovary(1)|skin(3)|stomach(2)	9		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183)		AGAGTCGTGGCAATGGAGGCT	0.652000														48			32		0	0	1	0	0
NPSR1	387129	broad.mit.edu	37	7	34698114	34698114	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:34698114G>T	uc003teh.1	+	0	218	c.90G>T	c.(88-90)gtG>gtT	p.V30V	NPSR1-AS1_uc010kwo.2_Intron|NPSR1-AS1_uc010kwp.2_Intron|NPSR1-AS1_uc003tdz.3_Intron|NPSR1-AS1_uc010kwq.2_Intron|NPSR1-AS1_uc003teb.1_Intron|NPSR1-AS1_uc011kaq.1_Intron|NPSR1_uc003teg.1_Silent_p.V30V|NPSR1_uc010kwt.1_5'UTR|NPSR1_uc010kwu.1_5'UTR|NPSR1_uc010kwv.1_Silent_p.V30V|NPSR1_uc003tei.1_Silent_p.V30V|NPSR1_uc010kww.1_Silent_p.V30V|NPSR1_uc011kar.1_Silent_p.V30V	NM_207173	NP_997056	Q6W5P4	NPSR1_HUMAN	Homo sapiens neuropeptide S receptor 1 (NPSR1), transcript variant 2, mRNA.	30						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	CTGAAACAGTGACTTTTACTG	0.507000														80			6		0.0215528	0.0220531	1	1	0
CORO7-PAM16	100529144	broad.mit.edu	37	16	4412704	4412704	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:4412704C>T	uc002cwf.3	-	14	1754	c.1311G>A	c.(1309-1311)tcG>tcA	p.S437S	CORO7-PAM16_uc002cwe.3_Non-coding_Transcript|CORO7-PAM16_uc002cwg.4_Silent_p.S217S|CORO7-PAM16_uc002cwh.4_Silent_p.S437S|CORO7-PAM16_uc010uxh.2_Silent_p.S419S|CORO7-PAM16_uc010uxi.2_Silent_p.S352S|CORO7-PAM16_uc002cwi.1_Silent_p.S217S|CORO7-PAM16_uc010uxj.1_Non-coding_Transcript|CORO7-PAM16_uc010btp.1_Silent_p.S217S	NM_001201479	NP_001188408			Homo sapiens CORO7-PAM16 readthrough (CORO7-PAM16), mRNA.																		GCGTGGAGGGCGAGGTCAGCG	0.662000														12			12		0	0	1	0	0
BLM	641	broad.mit.edu	37	15	91290665	91290665	+	Missense_Mutation	SNP	C	T	T	rs148545569		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:91290665C>T	uc002bpr.3	+	1	140	c.43C>T	c.(43-45)Cgt>Tgt	p.R15C	BLM_uc010uqh.2_Missense_Mutation_p.R15C|BLM_uc010uqi.2_5'UTR|BLM_uc010bnx.3_Missense_Mutation_p.R15C	NM_000057	NP_000048	P54132	BLM_HUMAN	Homo sapiens Bloom syndrome, RecQ helicase-like (BLM), mRNA.	15					G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|double-strand break repair via homologous recombination|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	PML body|cytoplasm|lateral element|nuclear matrix|nucleolus	ATP binding|DNA strand annealing activity|G-quadruplex DNA binding|bubble DNA binding|four-way junction helicase activity|p53 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			GCAACTAGAACGTCACTCAGC	0.363000			"""Mis, N, F"""			"""leukemia, lymphoma, skin squamous cell , other cancers"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome					14			8		0	0	1	0	0
NRXN1	9378	broad.mit.edu	37	2	50149183	50149183	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:50149183A>G	uc021vhh.1	-	20	5254	c.4333T>C	c.(4333-4335)Tca>Cca	p.S1445P	NRXN1_uc010fbp.3_Missense_Mutation_p.S410P|NRXN1_uc002rxb.4_Missense_Mutation_p.S1144P|NRXN1_uc021vhg.1_Missense_Mutation_p.S1515P|NRXN1_uc021vhi.1_Missense_Mutation_p.S1511P|NRXN1_uc021vhj.1_Missense_Mutation_p.S1441P|NRXN1_uc002rxa.4_Missense_Mutation_p.S107P|NRXN1_uc010yon.2_Missense_Mutation_p.S110P	NM_004801	NP_004792	Q9ULB1	NRX1A_HUMAN	Homo sapiens neurexin 1 (NRXN1), transcript variant alpha1, mRNA.	1445					adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GACTGTGCTGAGTTACTGATG	0.448000														58			27		0	0	1	0	0
TMUB2	79089	broad.mit.edu	37	17	42266537	42266537	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:42266537C>T	uc002ifo.3	+	2	340	c.183C>T	c.(181-183)agC>agT	p.S61S	C17orf65_uc002ifn.3_5'Flank|TMUB2_uc002ifp.3_Silent_p.S41S|TMUB2_uc010wiu.2_Silent_p.S41S|TMUB2_uc002ifr.3_Silent_p.S41S|TMUB2_uc002ift.3_Silent_p.S41S|TMUB2_uc002ifx.3_Silent_p.S41S|TMUB2_uc002ify.3_Non-coding_Transcript	NM_001076674	NP_803190	Q71RG4	TMUB2_HUMAN	Homo sapiens transmembrane and ubiquitin-like domain containing 2 (TMUB2), transcript variant 3, mRNA.	61						integral to membrane				endometrium(2)|kidney(2)|large_intestine(1)|lung(3)	8		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.113)		TAGCAGACAGCGGTAGCAACC	0.597000														56			24		0	0	1	0	0
CD101	9398	broad.mit.edu	37	1	117561089	117561089	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:117561089G>A	uc010oxb.1	+	5	1982	c.1924G>A	c.(1924-1926)Gta>Ata	p.V642I	CD101_uc009whd.3_Missense_Mutation_p.V642I|CD101_uc010oxc.1_Missense_Mutation_p.V642I|CD101_uc010oxd.1_Missense_Mutation_p.V580I	NM_004258	NP_004249	Q93033	IGSF2_HUMAN	Homo sapiens CD101 molecule (CD101), transcript variant 1, mRNA.	642	Ig-like C2-type 5.				cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						TCAGTGTGAAGTAGAAGTTTA	0.483000														75			11		0	0	1	0	0
SLC45A2	51151	broad.mit.edu	37	5	33984573	33984573	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:33984573C>T	uc003jid.3	-	0	208	c.116G>A	c.(115-117)aGc>aAc	p.S39N	SLC45A2_uc003jie.3_Missense_Mutation_p.S39N|SLC45A2_uc003jif.4_Missense_Mutation_p.S39N|SLC45A2_uc011coe.1_Missense_Mutation_p.S39N	NM_016180	NP_057264	Q9UMX9	S45A2_HUMAN	Homo sapiens solute carrier family 45, member 2 (SLC45A2), transcript variant 1, mRNA.	39					melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception	integral to membrane|melanosome membrane				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						CATGGCCATGCTGTGCATGAT	0.577000														17			7		0	0	1	0	0
CGRRF1	10668	broad.mit.edu	37	14	54996915	54996915	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:54996915T>C	uc001xay.3	+	2	484	c.393T>C	c.(391-393)taT>taC	p.Y131Y	CGRRF1_uc010tra.1_Silent_p.Y131Y	NM_006568	NP_006559	Q99675	CGRF1_HUMAN	Homo sapiens cell growth regulator with ring finger domain 1 (CGRRF1), mRNA.	131					cell cycle arrest|negative regulation of cell proliferation|response to stress		zinc ion binding	p.Y131*(2)|p.Y131C(1)		endometrium(3)|kidney(2)|lung(5)|ovary(2)|stomach(1)	13						ATGCTCTGTATAGTGAATATC	0.373000														44			29		0	0	1	0	0
POLH	5429	broad.mit.edu	37	6	43573029	43573029	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:43573029G>T	uc003ovq.4	+	8	1351	c.1047G>T	c.(1045-1047)gaG>gaT	p.E349D	POLH_uc010jyu.2_Missense_Mutation_p.E225D|POLH_uc011dvl.1_Non-coding_Transcript|POLH_uc003ovr.3_Missense_Mutation_p.E250D	NM_006502	NP_006493	Q9Y253	POLH_HUMAN	Homo sapiens polymerase (DNA directed), eta (POLH), mRNA.	349					DNA replication|DNA synthesis involved in DNA repair|regulation of DNA repair|response to UV-C	cytoplasm|nucleoplasm	DNA-directed DNA polymerase activity|damaged DNA binding|metal ion binding			breast(4)|endometrium(5)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_cancers(18;1.89e-05)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000753)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			AGGAACTAGAGGAGAGACTGA	0.373000								DNA polymerases (catalytic subunits)	Xeroderma Pigmentosum					15			8		5.18039e-06	5.80246e-06	1	1	0
FKBP15	23307	broad.mit.edu	37	9	115932853	115932853	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:115932853C>T	uc004bgs.2	-	24	2868	c.2715G>A	c.(2713-2715)gaG>gaA	p.E905E	FKBP15_uc004bgr.2_Silent_p.E342E|FKBP15_uc011lxc.1_Silent_p.E486E|FKBP15_uc011lxd.1_Silent_p.E837E	NM_015258	NP_056073	Q5T1M5	FKB15_HUMAN	Homo sapiens FK506 binding protein 15, 133kDa (FKBP15), mRNA.	905					endocytosis|protein folding	axon|early endosome	actin binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						TGTAAGATTCCTCCAGCTCAA	0.438000														86			32		0	0	1	0	0
E2F3	1871	broad.mit.edu	37	6	20487011	20487011	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:20487011C>A	uc003nda.2	+	4	1303	c.976C>A	c.(976-978)Ctt>Att	p.L326I	E2F3_uc021ymj.1_Missense_Mutation_p.L195I	NM_001949	NP_001940	O00716	E2F3_HUMAN	Homo sapiens E2F transcription factor 3 (E2F3), transcript variant 1, mRNA.	326	Dimerization (Potential).				G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter	transcription factor complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)	7	all_cancers(95;0.154)|all_epithelial(95;0.0585)|Breast(50;0.146)|Ovarian(93;0.148)		OV - Ovarian serous cystadenocarcinoma(7;0.0068)|all cancers(50;0.0148)|Epithelial(50;0.0562)			AGAAACAAGACTTGAAGTGCC	0.383000														32			13		1.3612e-06	1.54683e-06	1	1	0
LANCL1	10314	broad.mit.edu	37	2	211302421	211302421	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:211302421G>A	uc010zjh.2	-	6	941	c.866C>T	c.(865-867)gCc>gTc	p.A289V	LANCL1_uc002ved.3_Missense_Mutation_p.A289V|LANCL1_uc010fuq.3_Missense_Mutation_p.A289V	NM_001136574	NP_006046	O43813	LANC1_HUMAN	Homo sapiens LanC lantibiotic synthetase component C-like 1 (bacterial) (LANCL1), transcript variant 2, mRNA.	289						cytoplasm|integral to plasma membrane|microtubule cytoskeleton|nucleus	G-protein coupled receptor activity|SH3 domain binding|catalytic activity|glutathione binding|low-density lipoprotein particle receptor binding|zinc ion binding			breast(1)|large_intestine(5)|liver(1)|lung(4)|prostate(1)	12				Epithelial(149;0.00562)|Lung(261;0.0468)|LUSC - Lung squamous cell carcinoma(261;0.0495)|all cancers(144;0.0569)		TACCTTATAGGCCTGGATGAG	0.348000														32			16		0	0	1	0	0
EFCAB6	64800	broad.mit.edu	37	22	44083420	44083420	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:44083420A>G	uc003bdy.2	-	10	1387	c.1073T>C	c.(1072-1074)tTt>tCt	p.F358S	EFCAB6_uc003bdz.2_Missense_Mutation_p.F206S|EFCAB6_uc010gzi.2_Missense_Mutation_p.F206S|EFCAB6_uc010gzk.1_Intron|EFCAB6_uc011aqa.2_Intron|EFCAB6_uc003bea.2_Missense_Mutation_p.F355S	NM_022785	NP_942153	Q5THR3	EFCB6_HUMAN	Homo sapiens EF-hand calcium binding domain 6 (EFCAB6), transcript variant 1, mRNA.	358					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				TGATGTTAGAAATTGCTTCCA	0.299000														28			15		0	0	1	0	0
TMEM211	255349	broad.mit.edu	37	22	25334157	25334157	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:25334157C>A	uc003abk.1	-	1	111	c.86G>T	c.(85-87)aGg>aTg	p.R29M		NM_001001663	NP_001001663	Q6ICI0	TM211_HUMAN	Homo sapiens transmembrane protein 211 (TMEM211), mRNA.	100						integral to membrane				endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						ACTGCTTCTCCTTGGGCACAG	0.532000														62			4		0.184627	0.186034	1	1	0
SARS2	54938	broad.mit.edu	37	19	39433282	39433282	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:39433282T>C	uc002okf.1	-	5	935	c.830A>G	c.(829-831)cAc>cGc	p.H277R	SARS2_uc002okg.1_Missense_Mutation_p.H268R|SARS2_uc010xuq.1_Intron	NM_148169	NP_680474	Q9NP81	SYSM_HUMAN	Homo sapiens F-box protein 17 (FBXO17), transcript variant 1, mRNA.	0					seryl-tRNA aminoacylation	mitochondrial matrix	ATP binding|protein binding|serine-tRNA ligase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(60;2.74e-06)|all_epithelial(25;4.36e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			CACACTGGAGTGGGTCACAAG	0.577000														63			4		0	0	1	0	0
PDGFRA	5156	broad.mit.edu	37	4	55156518	55156518	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:55156518C>T	uc003han.4	+	21	3250	c.2919C>T	c.(2917-2919)gaC>gaT	p.D973D	PDGFRA_uc003haa.3_Silent_p.D733D	NM_006206	NP_006197	P16234	PGFRA_HUMAN	Homo sapiens platelet-derived growth factor receptor, alpha polypeptide (PDGFRA), mRNA.	973					cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of DNA replication|positive regulation of cell migration|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	p.S972G(1)		NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	TGAAGAGTGACCATCCTGCTG	0.418000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)				49			19		0	0	1	0	0
MIB1	57534	broad.mit.edu	37	18	19426999	19426999	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:19426999G>A	uc002ktq.3	+	15	2306	c.2306G>A	c.(2305-2307)cGa>cAa	p.R769Q	MIB1_uc002ktp.3_Missense_Mutation_p.R408Q	NM_020774	NP_065825	Q86YT6	MIB1_HUMAN	Homo sapiens mindbomb homolog 1 (Drosophila) (MIB1), mRNA.	769					Notch signaling pathway	centrosome|nuclear membrane|plasma membrane	ubiquitin-protein ligase activity|zinc ion binding	p.R769*(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27			STAD - Stomach adenocarcinoma(5;0.212)			CTGAGCATTCGAAATAAGAAG	0.453000														30			20		0	0	1	0	0
SLC39A2	29986	broad.mit.edu	37	14	21469172	21469172	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:21469172C>A	uc001vyr.3	+	3	556	c.364C>A	c.(364-366)Ctg>Atg	p.L122M	SLC39A2_uc001vys.3_Missense_Mutation_p.L23M	NM_014579	NP_055394	Q9NP94	S39A2_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 2 (SLC39A2), transcript variant 1, mRNA.	122						cytoplasmic membrane-bounded vesicle|integral to plasma membrane	zinc ion transmembrane transporter activity			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	14	all_cancers(95;0.00267)		OV - Ovarian serous cystadenocarcinoma(11;1.34e-10)|Epithelial(56;1.57e-08)|all cancers(55;7.45e-08)	GBM - Glioblastoma multiforme(265;0.0187)		TTTGGAGTCGCTGGCATTGCA	0.502000														215			91		2.22755e-30	2.9398e-30	1	1	0
PTDSS1	9791	broad.mit.edu	37	8	97345702	97345702	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:97345702C>T	uc003yht.1	+	12	1432	c.1330C>T	c.(1330-1332)Ccc>Tcc	p.P444S	PTDSS1_uc003yhu.1_Missense_Mutation_p.P298S	NM_014754	NP_055569	P48651	PTSS1_HUMAN	Homo sapiens phosphatidylserine synthase 1 (PTDSS1), mRNA.	444					phosphatidylserine biosynthetic process	integral to membrane	transferase activity			endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|stomach(1)	29	Breast(36;6.18e-05)				Phosphatidylserine(DB00144)	AGACAGCCCACCCAAGCATGC	0.527000											OREG0018880	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		84			59		0	0	1	0	0
C18orf1	753	broad.mit.edu	37	18	13621168	13621168	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:13621168G>A	uc002ksa.2	+	4	902	c.234G>A	c.(232-234)atG>atA	p.M78I	C18orf1_uc002ksb.2_Missense_Mutation_p.M78I|C18orf1_uc002kse.2_Missense_Mutation_p.M41I|C18orf1_uc002ksf.2_Missense_Mutation_p.M41I|C18orf1_uc002ksg.1_Missense_Mutation_p.M1I|C18orf1_uc002ksh.1_Missense_Mutation_p.M20I|C18orf1_uc002ksi.1_Missense_Mutation_p.M20I	NM_181481	NP_852146	O15165	CR001_HUMAN	Homo sapiens chromosome 18 open reading frame 1 (C18orf1), transcript variant a1, mRNA.	78						integral to membrane|plasma membrane				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26				READ - Rectum adenocarcinoma(73;0.0642)		TCACGGTGATGGTGGTGGTCA	0.627000														80			51		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9021062	9021062	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9021062G>A	uc002mkp.3	-	18	37465	c.37261C>T	c.(37261-37263)Cag>Tag	p.Q12421*		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	12423	SEA 3.				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						ACCAGACCCTGCAGGACCCTC	0.547000														92			8		0	0	1	0	0
SLC35B1	10237	broad.mit.edu	37	17	47781573	47781573	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:47781573G>T	uc002iph.1	-	5	631	c.544C>A	c.(544-546)Ctg>Atg	p.L182M	SLC35B1_uc002ipj.1_Missense_Mutation_p.L58M|SLC35B1_uc010wly.1_Missense_Mutation_p.L182M	NM_005827	NP_005818	P78383	S35B1_HUMAN	Homo sapiens solute carrier family 35, member B1 (SLC35B1), mRNA.	182						endoplasmic reticulum membrane|integral to membrane|microsome	UDP-galactose transmembrane transporter activity			endometrium(1)|large_intestine(2)|lung(3)|urinary_tract(1)	7						AGTCCATCCAGGGTCAGCGAT	0.532000														25			16		3.41278e-10	4.10877e-10	1	1	0
KAT6B	23522	broad.mit.edu	37	10	76790682	76790682	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:76790682G>A	uc001jwn.1	+	17	6593	c.6100G>A	c.(6100-6102)Gcc>Acc	p.A2034T	KAT6B_uc001jwo.1_Missense_Mutation_p.A1742T|KAT6B_uc001jwp.1_Missense_Mutation_p.A1851T	NM_012330	NP_036462	Q8WYB5	MYST4_HUMAN	Homo sapiens K(lysine) acetyltransferase 6B (KAT6B), mRNA.	2034	Interaction with RUNX1 and RUNX2.|Met-rich.				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding										CCAGCCATATGCCCAGCAGCC	0.527000														39			7		0	0	1	0	0
ZNF704	619279	broad.mit.edu	37	8	81733613	81733613	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:81733613C>T	uc003yby.2	-	1	449	c.217G>A	c.(217-219)Gca>Aca	p.A73T		NM_001033723	NP_001028895	Q6ZNC4	ZN704_HUMAN	Homo sapiens zinc finger protein 704 (ZNF704), mRNA.	73						intracellular	zinc ion binding			lung(9)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06)		BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277)			CCTTACCTTGCTGGAGGAACA	0.448000														144			94		0	0	1	0	0
AKD1	221264	broad.mit.edu	37	6	109814755	109814755	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:109814755G>A	uc003ptn.2	-	40	5630	c.5553C>T	c.(5551-5553)tcC>tcT	p.S1851S	AKD1_uc011eas.1_Silent_p.S236S	NM_001145128	NP_001138600	Q5TCS8	AKD1_HUMAN	Homo sapiens adenylate kinase domain containing 1 (AKD1), transcript variant 1, mRNA.	1851					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|nucleoside-triphosphatase activity			endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(2)	20						TTGTGTATTCGGAACCTTTGG	0.368000														41			26		0	0	1	0	0
SCAF4	57466	broad.mit.edu	37	21	33063198	33063198	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:33063198A>G	uc002ypd.2	-	14	2223	c.1797T>C	c.(1795-1797)gtT>gtC	p.V599V	SCAF4_uc002ype.2_Silent_p.V599V|SCAF4_uc010glu.2_Silent_p.V584V|SCAF4_uc002ypf.1_Silent_p.V273V	NM_020706	NP_065757	O95104	SFR15_HUMAN	Homo sapiens SR-related CTD-associated factor 4 (SCAF4), transcript variant 1, mRNA.	599				GVT -> CVI (in Ref. 1; AAD09327).		nucleus	RNA binding|nucleotide binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						GAATATAAGTAACACCAAGTT	0.383000														69			43		0	0	1	0	0
COX4NB	10328	broad.mit.edu	37	16	85814835	85814835	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:85814835G>A	uc002fjd.3	-	2	607	c.360C>T	c.(358-360)agC>agT	p.S120S	COX4NB_uc010vol.2_Silent_p.S120S	NM_006067	NP_006058	O43402	CX4NB_HUMAN	Homo sapiens COX4 neighbor (COX4NB), transcript variant 1, mRNA.	120						mitochondrion|nucleus				large_intestine(1)|upper_aerodigestive_tract(1)	2						GCGCAGTGTCGCTGAAGCCCT	0.547000														21			8		0	0	1	0	0
TECTA	7007	broad.mit.edu	37	11	121033015	121033015	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:121033015C>A	uc010rzo.2	+	14	5208	c.5208C>A	c.(5206-5208)gcC>gcA	p.A1736A		NM_005422	NP_005413	O75443	TECTA_HUMAN	Homo sapiens tectorin alpha (TECTA), mRNA.	1736					cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		CCCTGGCCGCCTACGGGGAGG	0.537000														26			6		0.0293803	0.0299714	1	1	0
EZR	7430	broad.mit.edu	37	6	159187958	159187958	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:159187958G>A	uc003qrt.4	-	12	1964	c.1749C>T	c.(1747-1749)ttC>ttT	p.F583F	MIR3918_uc021zho.1_5'Flank|EZR_uc011efr.2_Silent_p.F190F|EZR_uc011efs.2_Silent_p.F551F|EZR_uc003qru.4_Silent_p.F583F	NM_003379	NP_003370	P15311	EZRI_HUMAN	Homo sapiens ezrin (EZR), transcript variant 1, mRNA.	583	Interaction with SCYL3.				actin filament bundle assembly|axon guidance|cytoskeletal anchoring at plasma membrane|leukocyte cell-cell adhesion|membrane to membrane docking|regulation of cell shape	actin filament|apical plasma membrane|basolateral plasma membrane|cortical cytoskeleton|cytosol|extrinsic to membrane|filopodium|microvillus membrane|nucleolus|ruffle membrane	actin filament binding|cell adhesion molecule binding		EZR/ROS1(4)	breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	15		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06)		ACAGGGCCTCGAACTCGTCGA	0.607000			T	ROS1	NSCLC									67			51		0	0	1	0	0
SOD2	6648	broad.mit.edu	37	6	160113695	160113695	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:160113695T>G	uc003qsg.3	-	1	378	c.224A>C	c.(223-225)aAg>aCg	p.K75T	SOD2_uc003qsh.3_Missense_Mutation_p.K75T|SOD2_uc003qsi.1_Missense_Mutation_p.K75T|SOD2_uc011efu.1_Missense_Mutation_p.K75T|SOD2_uc011efv.1_Missense_Mutation_p.K75T|SOD2_uc003qsj.3_Missense_Mutation_p.K75T	NM_001024465	NP_001019636	P04179	SODM_HUMAN	Homo sapiens superoxide dismutase 2, mitochondrial (SOD2), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	75					age-dependent response to reactive oxygen species|negative regulation of neuron apoptosis|oxygen homeostasis|protein homotetramerization|regulation of transcription from RNA polymerase II promoter|release of cytochrome c from mitochondria|removal of superoxide radicals|vasodilation by acetylcholine involved in regulation of systemic arterial blood pressure		manganese ion binding|superoxide dismutase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(3)|skin(1)	14		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.103)		OV - Ovarian serous cystadenocarcinoma(65;1.4e-18)|BRCA - Breast invasive adenocarcinoma(81;5.77e-06)		GAACCTACCCTTGGCCAACGC	0.652000														36			6		0	0	1	0	0
GMPPB	29925	broad.mit.edu	37	3	49760894	49760894	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49760894G>A	uc003cxl.1	-	1	366	c.141C>T	c.(139-141)gaC>gaT	p.D47D	GMPPB_uc003cxk.1_Silent_p.D47D	NM_013334	NP_037466	Q9Y5P6	GMPPB_HUMAN	Homo sapiens GDP-mannose pyrophosphorylase B (GMPPB), transcript variant 1, mRNA.	47					GDP-mannose biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine		GTP binding|mannose-1-phosphate guanylyltransferase activity			endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GGATCACGTGGTCCACGCCTG	0.627000														28			13		0	0	1	0	0
CELSR3	1951	broad.mit.edu	37	3	48694281	48694281	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:48694281C>T	uc003cuf.1	-	3	4459	c.4459G>A	c.(4459-4461)Gct>Act	p.A1487T	CELSR3_uc003cul.3_Missense_Mutation_p.A1417T	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA.	1417	EGF-like 3; calcium-binding.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CGCAGGCCAGCGATGGGCTGG	0.647000														3			3		0	0	1	0	0
RGPD3	653489	broad.mit.edu	37	2	107075781	107075781	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:107075781G>A	uc010ywi.1	-	1	137	c.80C>T	c.(79-81)aCg>aTg	p.T27M		NM_001144013	NP_001137485	A6NKT7	RGPD3_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 3 (RGPD3), mRNA.	27					intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						GAATCCTCTCGTTGACTTCTA	0.259000														15			3		0	0	1	0	0
NTRK2	4915	broad.mit.edu	37	9	87342789	87342789	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:87342789C>T	uc004aoa.1	+	10	2012	c.1074C>T	c.(1072-1074)gaC>gaT	p.D358D	NTRK2_uc004anv.1_Silent_p.D345D|NTRK2_uc004any.1_Silent_p.D358D|NTRK2_uc004anz.1_Silent_p.D358D|NTRK2_uc004aob.1_Silent_p.D358D|NTRK2_uc011lsz.2_Silent_p.D358D|NTRK2_uc011lta.2_Silent_p.D358D|NTRK2_uc011ltb.1_Silent_p.D202D	NM_001018064	NP_001018074	Q16620	NTRK2_HUMAN	Homo sapiens neurotrophic tyrosine kinase, receptor, type 2 (NTRK2), transcript variant c, mRNA.	358	Ig-like C2-type 2.				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity	p.G357G(1)		breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46						ACAATGGGGACTACACTCTAA	0.453000										TSP Lung(25;0.17)				50			21		0	0	1	0	0
GIMAP1-GIMAP5	100527949	broad.mit.edu	37	7	150439967	150439967	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:150439967C>T	uc022apw.1	+	5	1492	c.1352C>T	c.(1351-1353)gCc>gTc	p.A451V	GIMAP1-GIMAP5_uc003whr.2_Missense_Mutation_p.A247V	NM_001199577	NP_001186506			Homo sapiens GIMAP1-GIMAP5 readthrough (GIMAP1-GIMAP5), mRNA.																		CAGTACCAGGCCAAAGTGGAA	0.552000														39			45		0	0	1	0	0
PNMA5	114824	broad.mit.edu	37	X	152159206	152159206	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:152159206C>A	uc022chn.1	-	0	937	c.937G>T	c.(937-939)Ggg>Tgg	p.G313W	PNMA5_uc010ntx.3_Missense_Mutation_p.G313W|PNMA5_uc010ntw.3_Missense_Mutation_p.G313W|PNMA5_uc004fgy.4_Missense_Mutation_p.G313W|PNMA5_uc022chm.1_Missense_Mutation_p.G313W	NM_052926	NP_443158	Q96PV4	PNMA5_HUMAN	Homo sapiens paraneoplastic antigen like 5 (PNMA5), transcript variant 3, mRNA.	313					apoptosis					breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					GGAGGACACCCTCGCTGATCC	0.527000														52			28		2.12542e-12	2.62166e-12	1	1	0
CEACAM16	388551	broad.mit.edu	37	19	45209106	45209106	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:45209106C>A	uc010xxd.2	+	4	1114	c.908C>A	c.(907-909)tCt>tAt	p.S303Y		NM_001039213	NP_001034302	A7LI12	A7LI12_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 16 (CEACAM16), mRNA.	303										endometrium(3)|large_intestine(2)|lung(3)|ovary(1)	9	Lung NSC(12;0.000698)|all_lung(12;0.002)	Prostate(69;0.0376)|Ovarian(192;0.231)				ACCCTGCTATCTGGATCTGCC	0.587000														60			28		4.74835e-14	5.93493e-14	1	1	0
CD164	8763	broad.mit.edu	37	6	109700818	109700818	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:109700818C>T	uc003pte.3	-	1	404	c.223G>A	c.(223-225)Gtt>Att	p.V75I	CD164_uc003ptd.3_Missense_Mutation_p.V75I|CD164_uc003ptf.3_Missense_Mutation_p.V75I|CD164_uc011eap.2_Missense_Mutation_p.V75I|CD164_uc010kdn.3_Missense_Mutation_p.V75I	NM_006016	NP_006007	Q04900	MUC24_HUMAN	Homo sapiens CD164 molecule, sialomucin (CD164), transcript variant 1, mRNA.	75					hemopoiesis|heterophilic cell-cell adhesion|immune response|muscle organ development|negative regulation of cell adhesion|negative regulation of cell proliferation|signal transduction	endosome membrane|extracellular region|integral to plasma membrane|lysosomal membrane	protein binding			breast(1)|lung(2)	3		all_cancers(87;4.65e-22)|all_epithelial(87;2.54e-20)|all_lung(197;1.6e-05)|Lung NSC(302;2.92e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.0175)		Epithelial(106;7.83e-46)|all cancers(137;1.15e-45)|OV - Ovarian serous cystadenocarcinoma(136;2.89e-26)|BRCA - Breast invasive adenocarcinoma(108;0.00128)|GBM - Glioblastoma multiforme(226;0.16)		GTATTAACAACGCTAACATTA	0.353000														60			20		0	0	1	0	0
DCAF11	80344	broad.mit.edu	37	14	24588928	24588928	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:24588928C>A	uc001wlv.3	+	10	1195	c.915C>A	c.(913-915)tcC>tcA	p.S305S	DCAF11_uc001wlw.3_Silent_p.S305S|DCAF11_uc001wlz.3_Silent_p.S205S|DCAF11_uc001wly.3_Silent_p.S261S|DCAF11_uc010tny.2_Silent_p.S172S|DCAF11_uc001wmc.3_Silent_p.S205S|DCAF11_uc001wmb.4_Silent_p.S279S|DCAF11_uc001wma.4_Silent_p.S305S	NM_001163484	NP_079506	Q8TEB1	DCA11_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 11 (DCAF11), transcript variant 3, mRNA.	305						CUL4 RING ubiquitin ligase complex	protein binding										AGATTGAGTCCCATGAGGATG	0.483000														41			21		5.35356e-11	6.51008e-11	1	1	0
UCHL3	7347	broad.mit.edu	37	13	76169105	76169105	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:76169105G>T	uc001vjq.3	+	6	559	c.529G>T	c.(529-531)Gat>Tat	p.D177Y		NM_006002	NP_005993	P15374	UCHL3_HUMAN	Homo sapiens ubiquitin carboxyl-terminal esterase L3 (ubiquitin thiolesterase) (UCHL3), mRNA.	177					ubiquitin-dependent protein catabolic process	cytoplasm	cysteine-type peptidase activity|ubiquitin binding|ubiquitin thiolesterase activity			kidney(1)|large_intestine(2)|lung(3)|skin(1)	7				GBM - Glioblastoma multiforme(99;0.0125)		AGTTCATGTAGATGGGCATCT	0.333000														213			14		4.93089e-13	6.11992e-13	1	1	0
CAPN3	825	broad.mit.edu	37	15	42652026	42652026	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:42652026C>A	uc001zpn.1	+	0	329	c.23C>A	c.(22-24)tCt>tAt	p.S8Y	CAPN3_uc001zpk.1_Intron|CAPN3_uc001zpl.1_Intron|CAPN3_uc010udf.1_Intron|CAPN3_uc010udg.1_Intron|CAPN3_uc001zpo.1_Missense_Mutation_p.S8Y|CAPN3_uc001zpp.1_Missense_Mutation_p.S8Y	NM_000070	NP_000061	P20807	CAN3_HUMAN	Homo sapiens calpain 3, (p94) (CAPN3), transcript variant 1, mRNA.	8					muscle organ development|proteolysis	cytoplasm	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		ATTAGCGCATCTGTGGCTCCA	0.552000														154			10		0.0809354	0.0822074	1	1	0
ZFYVE1	53349	broad.mit.edu	37	14	73442413	73442413	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:73442413T>G	uc001xnm.3	-	8	2373	c.1652A>C	c.(1651-1653)aAg>aCg	p.K551T	ZFYVE1_uc001xnl.3_Missense_Mutation_p.K136T|ZFYVE1_uc010arj.3_Missense_Mutation_p.K537T	NM_021260	NP_067083	Q9HBF4	ZFYV1_HUMAN	Homo sapiens zinc finger, FYVE domain containing 1 (ZFYVE1), transcript variant 1, mRNA.	551						Golgi stack|endoplasmic reticulum|perinuclear region of cytoplasm	1-phosphatidylinositol binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1)	35		all_lung(585;1.33e-09)		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)		GTTGTTGTCCTTCAGAAACCC	0.527000														37			7		0	0	1	0	0
SLC9A5	6553	broad.mit.edu	37	16	67305108	67305108	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:67305108C>A	uc002esm.3	+	15	2749	c.2686C>A	c.(2686-2688)Ctg>Atg	p.L896M	SLC9A5_uc010cee.3_Missense_Mutation_p.L601M|SLC9A5_uc010vji.2_Missense_Mutation_p.L400M	NM_004594	NP_004585	Q14940	SL9A5_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 5 (SLC9A5), mRNA.	896					regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		AGGCAGCCGGCTGTAGCTCAA	0.627000														8			3		0.004672	0.00486265	1	1	0
CECR6	27439	broad.mit.edu	37	22	17601078	17601078	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:17601078C>T	uc002zmb.2	-	0	1136	c.940G>A	c.(940-942)Gcc>Acc	p.A314T	CECR6_uc002zma.2_Intron|BC021738_uc002zmc.3_5'Flank	NM_031890	NP_114096	Q9BXQ6	CECR6_HUMAN	Homo sapiens cat eye syndrome chromosome region, candidate 6 (CECR6), transcript variant 1, mRNA.	314	Ala-rich.									haematopoietic_and_lymphoid_tissue(1)	1		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.221)		GCCAGGTAGGCGAAGGCGAAC	0.731000														23			11		0	0	1	0	0
SCAF4	57466	broad.mit.edu	37	21	33074144	33074144	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:33074144C>T	uc002ypd.2	-	5	971	c.545G>A	c.(544-546)aGc>aAc	p.S182N	SCAF4_uc002ype.2_Missense_Mutation_p.S182N|SCAF4_uc010glu.2_Missense_Mutation_p.S167N|SCAF4_uc002ypf.1_5'UTR|SCAF4_uc002ypg.2_Missense_Mutation_p.S182N	NM_020706	NP_065757	O95104	SFR15_HUMAN	Homo sapiens SR-related CTD-associated factor 4 (SCAF4), transcript variant 1, mRNA.	182						nucleus	RNA binding|nucleotide binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						AGCATCAGAGCTGGGCAACTG	0.473000														36			27		0	0	1	0	0
CAMSAP2	23271	broad.mit.edu	37	1	200801338	200801338	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:200801338G>A	uc001gvl.3	+	5	959	c.689G>A	c.(688-690)cGg>cAg	p.R230Q	CAMSAP2_uc001gvk.3_Missense_Mutation_p.R219Q|CAMSAP2_uc001gvm.3_Missense_Mutation_p.R219Q	NM_203459	NP_982284	Q08AD1	CAMP2_HUMAN	Homo sapiens calmodulin regulated spectrin-associated protein family, member 2 (CAMSAP2), mRNA.	230	CH.					cytoplasm|microtubule	protein binding										GCTCGTTATCGGAAAGAGCAA	0.348000														37			20		0	0	1	0	0
ADAM15	8751	broad.mit.edu	37	1	155029698	155029698	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155029698C>T	uc001fgr.1	+	11	1284	c.1183C>T	c.(1183-1185)Cga>Tga	p.R395*	LOC100505666_uc021pan.1_Intron|ADAM15_uc001fgq.1_Nonsense_Mutation_p.R80*|ADAM15_uc010pet.1_Nonsense_Mutation_p.R379*|ADAM15_uc010peu.1_Nonsense_Mutation_p.R412*|ADAM15_uc001fgx.1_Nonsense_Mutation_p.R395*|ADAM15_uc001fgz.1_Non-coding_Transcript|ADAM15_uc001fgy.1_Non-coding_Transcript|ADAM15_uc001fha.1_Non-coding_Transcript|ADAM15_uc001fgt.1_Nonsense_Mutation_p.R395*|ADAM15_uc001fgs.1_Nonsense_Mutation_p.R395*|ADAM15_uc010pev.1_Nonsense_Mutation_p.R405*|ADAM15_uc001fgu.1_Nonsense_Mutation_p.R395*|ADAM15_uc001fgv.1_Nonsense_Mutation_p.R395*|ADAM15_uc001fgw.1_Nonsense_Mutation_p.R395*	NM_207197	NP_997080	Q13444	ADA15_HUMAN	Homo sapiens ADAM metallopeptidase domain 15 (ADAM15), transcript variant 6, mRNA.	395	Peptidase M12B.				angiogenesis|cell-matrix adhesion|collagen catabolic process|proteolysis	acrosomal vesicle|adherens junction|endomembrane system|flagellum|integral to membrane	SH3 domain binding|metalloendopeptidase activity|zinc ion binding			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1)	39	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			CAACTGCAGCCGACGGGCCCT	0.632000														21			13		0	0	1	0	0
KLHL10	317719	broad.mit.edu	37	17	40004288	40004288	+	Missense_Mutation	SNP	A	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:40004288A>T	uc010cxr.3	+	4	1698	c.1556A>T	c.(1555-1557)aAt>aTt	p.N519I	KLHL10_uc010wfw.2_Missense_Mutation_p.N431I	NM_152467	NP_689680	Q6JEL2	KLH10_HUMAN	Homo sapiens kelch-like 10 (Drosophila) (KLHL10), mRNA.	519						cytoplasm				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26		Breast(137;0.000162)				CCTCGTAGCAATTTTGGCATC	0.478000														45			36		0	0	1	0	0
RNASE4	6038	broad.mit.edu	37	14	21167681	21167681	+	Missense_Mutation	SNP	C	T	T	rs142040605		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:21167681C>T	uc021rol.1	+	0	151	c.151C>T	c.(151-153)Cgc>Tgc	p.R51C	RNASE4_uc001vxy.4_Missense_Mutation_p.R51C|RNASE4_uc001vxx.4_Non-coding_Transcript|RNASE4_uc001vya.3_Missense_Mutation_p.R51C	NM_194431	NP_919412	P34096	RNAS4_HUMAN	Homo sapiens ribonuclease, RNase A family, 4 (RNASE4), transcript variant 3, mRNA.	51					mRNA cleavage	extracellular region	nucleic acid binding|pancreatic ribonuclease activity			central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1)	6	all_cancers(95;0.00304)		Epithelial(56;5.13e-07)|all cancers(55;4.73e-06)	GBM - Glioblastoma multiforme(265;0.0133)		TGGCAGTGATCGCTACTGCAA	0.532000														73			8		0	0	1	0	0
UBR4	23352	broad.mit.edu	37	1	19464554	19464554	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:19464554G>A	uc001bbi.3	-	59	8857	c.8853C>T	c.(8851-8853)ggC>ggT	p.G2951G	UBR4_uc001bbk.1_Silent_p.G598G	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 4 (UBR4), mRNA.	2951					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		ctccctcGGAGCCATCTCCCT	0.557000														22			15		0	0	1	0	0
FCGR2A	2212	broad.mit.edu	37	1	161483700	161483700	+	Missense_Mutation	SNP	C	T	T	rs149146966		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:161483700C>T	uc001gan.3	+	5	811	c.758C>T	c.(757-759)cCt>cTt	p.P253L	FCGR2A_uc001gam.3_Missense_Mutation_p.P252L|FCGR2A_uc021pcz.1_Non-coding_Transcript|FCGR2A_uc021pda.1_Non-coding_Transcript	NM_001136219	NP_001129691	P12318	FCG2A_HUMAN	Homo sapiens Fc fragment of IgG, low affinity IIa, receptor (CD32) (FCGR2A), transcript variant 1, mRNA.	253						integral to membrane|plasma membrane	IgG binding|receptor activity	p.V253M(1)		autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)	19	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TCCACTGATCCTGTGAAGGCT	0.488000														176			48		0	0	1	0	0
CCDC116	164592	broad.mit.edu	37	22	21988347	21988347	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:21988347C>T	uc002zve.3	+	2	202	c.109C>T	c.(109-111)Cgg>Tgg	p.R37W	CCDC116_uc011aih.1_Missense_Mutation_p.R37W	NM_152612	NP_689825	Q8IYX3	CC116_HUMAN	Homo sapiens coiled-coil domain containing 116 (CCDC116), mRNA.	37										endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(5)	22	Colorectal(54;0.105)					CCCAGAAATGCGGCCAGCCTG	0.632000														35			18		0	0	1	0	0
PHTF2	57157	broad.mit.edu	37	7	77579012	77579012	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:77579012G>A	uc003ugs.4	+	15	2103	c.1977G>A	c.(1975-1977)gaG>gaA	p.E659E	PHTF2_uc010ldv.3_Intron|PHTF2_uc003ugq.4_Silent_p.E621E|PHTF2_uc003ugt.4_Silent_p.E625E|PHTF2_uc003ugu.4_Silent_p.E621E|PHTF2_uc022agp.1_Silent_p.E659E	NM_001127357	NP_001120829	Q8N3S3	PHTF2_HUMAN	Homo sapiens putative homeodomain transcription factor 2 (PHTF2), transcript variant 1, mRNA.	659					regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum|nucleus	DNA binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	19						ATGTACACGAGATCTTCCTTG	0.328000														5			10		0	0	1	0	0
DDX60L	91351	broad.mit.edu	37	4	169383115	169383115	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:169383115T>C	uc021xuh.1	-	3	451	c.341A>G	c.(340-342)aAt>aGt	p.N114S	DDX60L_uc003irq.4_Missense_Mutation_p.N114S|DDX60L_uc003irr.1_Missense_Mutation_p.N114S	NM_001012967	NP_001012985	Q5H9U9	DDX6L_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like (DDX60L), mRNA.	114							ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		AATGTTAGTATTGTGTTGAAG	0.373000														17			6		0	0	1	0	0
BSPRY	54836	broad.mit.edu	37	9	116130640	116130640	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:116130640C>T	uc004bhg.4	+	4	707	c.659C>T	c.(658-660)aCg>aTg	p.T220M	BSPRY_uc010muw.3_Intron	NM_017688	NP_060158	Q5W0U4	BSPRY_HUMAN	Homo sapiens B-box and SPRY domain containing (BSPRY), mRNA.	220	B30.2/SPRY.				calcium ion transport	cytoplasm|membrane	zinc ion binding			breast(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						CTCTGGGCAACGGCGGTTCTT	0.532000														67			30		0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152737985	152737985	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:152737985G>A	uc021zhb.1	-	38	5810	c.5587C>T	c.(5587-5589)Cgg>Tgg	p.R1863W	SYNE1_uc003qot.4_Missense_Mutation_p.R1870W|SYNE1_uc003qou.4_Missense_Mutation_p.R1863W|SYNE1_uc010kjb.1_Missense_Mutation_p.R1846W	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	1863					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	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)		GCAAGCTGCCGCCTCTCCACA	0.602000										HNSCC(10;0.0054)				62			7		0	0	1	0	0
CFH	3075	broad.mit.edu	37	1	196659281	196659281	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:196659281C>T	uc001gtj.4	+	8	1488	c.1248C>T	c.(1246-1248)tgC>tgT	p.C416C	CFH_uc021pgt.1_5'UTR|CFH_uc001gti.4_Silent_p.C416C|CFH_uc009wyw.3_Silent_p.C391C|CFH_uc009wyx.3_Silent_p.C352C	NM_000186	NP_000177	P08603	CFAH_HUMAN	Homo sapiens complement factor H (CFH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	416	Sushi 7.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						ACGTTGCCTGCCATCCTGGCT	0.413000														25			29		0	0	1	0	0
TMEM26	219623	broad.mit.edu	37	10	63170226	63170226	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:63170226C>A	uc001jlo.2	-	5	1330	c.961G>T	c.(961-963)Ggc>Tgc	p.G321C	TMEM26_uc001jlp.1_Non-coding_Transcript	NM_178505	NP_848600	Q6ZUK4	TMM26_HUMAN	Homo sapiens transmembrane protein 26 (TMEM26), mRNA.	321						integral to membrane				kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	18	Prostate(12;0.0112)					CCTTTCAGGCCTTCTGACTGA	0.567000														27			19		0.000229342	0.000247496	1	1	0
STIL	6491	broad.mit.edu	37	1	47725975	47725975	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:47725975G>T	uc001crd.1	-	15	3221	c.3066C>A	c.(3064-3066)aaC>aaA	p.N1022K	TAL1_uc001crb.1_Intron|STIL_uc010omn.1_Missense_Mutation_p.N975K|STIL_uc010omo.1_Missense_Mutation_p.N1004K|STIL_uc001crc.1_Missense_Mutation_p.N1021K|STIL_uc001cre.1_Missense_Mutation_p.N1021K|STIL_uc001crf.1_Missense_Mutation_p.N634K|STIL_uc001crg.1_Missense_Mutation_p.N957K	NM_001048166	NP_001041631	Q15468	STIL_HUMAN	Homo sapiens SCL/TAL1 interrupting locus (STIL), transcript variant 1, mRNA.	1021					cell proliferation|multicellular organismal development	centrosome|cytosol				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				CGTGATCCACGTTATGTGCAT	0.308000														43			22		9.95505e-16	1.25642e-15	1	1	0
CUBN	8029	broad.mit.edu	37	10	16942837	16942837	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:16942837C>T	uc001ioo.3	-	52	8249	c.8197G>A	c.(8197-8199)Gac>Aac	p.D2733N	CUBN_uc009xjq.1_Non-coding_Transcript|CUBN_uc009xjr.1_Missense_Mutation_p.D89N	NM_001081	NP_001072	O60494	CUBN_HUMAN	Homo sapiens cubilin (intrinsic factor-cobalamin receptor) (CUBN), mRNA.	2733	CUB 20.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ATATCAAAGTCACTAAATGTG	0.403000														15			6		0	0	1	0	0
ILF3	3609	broad.mit.edu	37	19	10794426	10794426	+	Nonsense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10794426G>T	uc002mpn.3	+	15	2283	c.1966G>T	c.(1966-1968)Gga>Tga	p.G656*	ILF3_uc010xli.1_Nonsense_Mutation_p.G254*|ILF3_uc002mpm.2_Nonsense_Mutation_p.G660*|ILF3_uc002mpl.2_Nonsense_Mutation_p.G656*|ILF3_uc002mpk.2_Nonsense_Mutation_p.G656*|ILF3_uc002mpo.3_Nonsense_Mutation_p.G660*|ILF3_uc002mpp.3_Nonsense_Mutation_p.G481*|ILF3_uc002mpq.3_5'Flank	NM_012218	NP_036350	Q12906	ILF3_HUMAN	Homo sapiens interleukin enhancer binding factor 3, 90kDa (ILF3), transcript variant 1, mRNA.	656	Arg/Gly-rich.|Interaction with PRMT1.				M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			GCGCGGGCGAGGATTTGGTGG	0.652000														20			10		2.17888e-05	2.40634e-05	1	1	0
PPP1R36	145376	broad.mit.edu	37	14	65056008	65056008	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:65056008G>A	uc001xhl.1	+	11	1317	c.1221G>A	c.(1219-1221)ctG>ctA	p.L407L	PPP1R36_uc001xhm.1_Silent_p.L137L	NM_172365	NP_758953	Q96LQ0	CN050_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 36 (PPP1R36), mRNA.	407																	AGGATACACTGGACTTGGTCA	0.393000														71			7		0	0	1	0	0
ANAPC5	51433	broad.mit.edu	37	12	121746350	121746350	+	Missense_Mutation	SNP	G	A	A	rs115934510	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:121746350G>A	uc001uag.3	-	16	2323	c.2201C>T	c.(2200-2202)gCg>gTg	p.A734V	ANAPC5_uc010szu.2_Missense_Mutation_p.A400V|ANAPC5_uc001uae.3_Missense_Mutation_p.A298V|ANAPC5_uc010szv.2_Missense_Mutation_p.A336V|ANAPC5_uc001uaf.3_Non-coding_Transcript|ANAPC5_uc001uah.3_Missense_Mutation_p.A622V	NM_016237	NP_057321	Q9UJX4	APC5_HUMAN	Homo sapiens anaphase promoting complex subunit 5 (ANAPC5), transcript variant 1, mRNA.	734					G2/M transition of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity	p.A734V(4)		breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GAAGAGCATCGCACACCGGTT	0.562000														47			26		0	0	1	0	0
CES5A	221223	broad.mit.edu	37	16	55907780	55907780	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:55907780C>T	uc021tir.1	-	2	476	c.330G>A	c.(328-330)tgG>tgA	p.W110*	CES5A_uc002eip.2_Nonsense_Mutation_p.W81*|CES5A_uc002eio.2_Nonsense_Mutation_p.W81*|CES5A_uc002eiq.2_5'UTR|CES5A_uc002eir.2_5'UTR	NM_001190158	NP_001177087	Q6NT32	EST5A_HUMAN	Homo sapiens carboxylesterase 5A (CES5A), transcript variant 3, mRNA.	81						extracellular region	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						GCAAGTTATCCCAGGGCGATG	0.592000														18			11		0	0	1	0	0
ZNF785	146540	broad.mit.edu	37	16	30594701	30594701	+	RNA	SNP	G	A	A	rs147472796		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:30594701G>A	uc002dyu.3	+	1		c.1008G>A			ZNF785_uc002dyv.2_Missense_Mutation_p.A118V|ZNF785_uc002dyw.2_Missense_Mutation_p.A133V|ZNF785_uc010vez.2_Missense_Mutation_p.A98V			A8K8V0	ZN785_HUMAN	Homo sapiens cDNA clone IMAGE:4906981, partial cds.						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	9						CACTTCATGCGCCACCTCTTT	0.527000														58			39		0	0	1	0	0
ZFR	51663	broad.mit.edu	37	5	32364315	32364315	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:32364315G>T	uc003jhr.1	-	17	2982	c.2902C>A	c.(2902-2904)Ctg>Atg	p.L968M	ZFR_uc010ium.1_Missense_Mutation_p.L99M|ZFR_uc011cny.1_Non-coding_Transcript	NM_016107	NP_057191	Q96KR1	ZFR_HUMAN	Homo sapiens zinc finger RNA binding protein (ZFR), mRNA.	968	DZF.				multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		ACTCTTCTCAGTGCATCCCCA	0.358000														119			12		2.23348e-06	2.52156e-06	1	1	0
C10orf120	399814	broad.mit.edu	37	10	124457660	124457660	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:124457660G>A	uc001lgn.3	-	2	629	c.597C>T	c.(595-597)ggC>ggT	p.G199G		NM_001010912	NP_001010912	Q5SQS8	CJ120_HUMAN	Homo sapiens chromosome 10 open reading frame 120 (C10orf120), mRNA.	199										endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1)	21		all_neural(114;0.169)|Glioma(114;0.222)				TTGGACCCAGGCCCACCCCAG	0.483000														24			18		0	0	1	0	0
NMT2	9397	broad.mit.edu	37	10	15170447	15170447	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:15170447G>A	uc001inz.1	-	7	985	c.901C>T	c.(901-903)Cga>Tga	p.R301*	NMT2_uc001ioa.1_Nonsense_Mutation_p.R288*|NMT2_uc010qbz.1_Nonsense_Mutation_p.R113*	NM_004808	NP_004799	O60551	NMT2_HUMAN	Homo sapiens N-myristoyltransferase 2 (NMT2), mRNA.	301					N-terminal protein myristoylation|protein lipoylation	Golgi apparatus|plasma membrane	glycylpeptide N-tetradecanoyltransferase activity			breast(3)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(3)	21						TTTAGTGATCGATGCCAGTAT	0.338000														72			8		0	0	1	0	0
C6	729	broad.mit.edu	37	5	41149403	41149403	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:41149403T>C	uc003jmk.2	-	16	2773	c.2563A>G	c.(2563-2565)Aac>Gac	p.N855D	C6_uc003jml.1_Missense_Mutation_p.N855D	NM_000065	NP_001108603	P13671	CO6_HUMAN	Homo sapiens complement component 6 (C6), transcript variant 1, mRNA.	855	C5b-binding domain.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TTTGTGCTGTTGGATGAAAGT	0.413000														130			80		0	0	1	0	0
CCR9	10803	broad.mit.edu	37	3	45943196	45943196	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:45943196G>A	uc003coz.2	+	2	1096	c.916G>A	c.(916-918)Gcc>Acc	p.A306T	LZTFL1_uc003coy.1_Intron|LZTFL1_uc011bak.1_Intron|CCR9_uc010hiv.2_Missense_Mutation_p.A294T|CCR9_uc003cpa.2_Missense_Mutation_p.A294T|CCR9_uc021wwv.1_Missense_Mutation_p.A294T	NM_031200	NP_006632	P51686	CCR9_HUMAN	Homo sapiens chemokine (C-C motif) receptor 9 (CCR9), transcript variant A, mRNA.	306					cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane				breast(1)|endometrium(4)|large_intestine(8)|lung(2)|ovary(2)|prostate(2)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00118)|KIRC - Kidney renal clear cell carcinoma(197;0.0182)|Kidney(197;0.0214)		CCAGACCATCGCCTTCTTCCA	0.502000														40			27		0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152497084	152497084	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:152497084C>T	uc021vrb.1	-	58	8499	c.8470G>A	c.(8470-8472)Gcc>Acc	p.A2824T	NEB_uc002txu.3_Missense_Mutation_p.A2824T|NEB_uc021vrc.1_Missense_Mutation_p.A2824T|NEB_uc010fnx.3_Missense_Mutation_p.A2824T|NEB_uc021vrd.1_Missense_Mutation_p.A2824T	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	2824					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TGGATCTTGGCCACGTGCATG	0.527000														169			111		0	0	1	0	0
GNA11	2767	broad.mit.edu	37	19	3115036	3115036	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:3115036G>A	uc002lxd.3	+	3	813	c.571G>A	c.(571-573)Gag>Aag	p.E191K		NM_002067	NP_002058	P29992	GNA11_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), alpha 11 (Gq class) (GNA11), mRNA.	191					G-protein signaling, coupled to cAMP nucleotide second messenger|activation of phospholipase C activity by dopamine receptor signaling pathway|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		CGGCATCATCGAGTACCCTTT	0.662000			Mis		uveal melanoma									63			39		0	0	1	0	0
PDE11A	50940	broad.mit.edu	37	2	178936974	178936974	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:178936974C>A	uc002ulq.3	-	0	509	c.191G>T	c.(190-192)aGc>aTc	p.S64I	PDE11A_uc002ulr.3_Intron|PDE11A_uc002ult.1_Intron	NM_016953	NP_001070664	Q9HCR9	PDE11_HUMAN	Homo sapiens phosphodiesterase 11A (PDE11A), transcript variant 4, mRNA.	64					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			TCTGCAGGTGCTGTGAGCCAA	0.627000									Primary Pigmented Nodular Adrenocortical Disease, Familial					16			5		0.0215528	0.0220531	1	1	0
PALB2	79728	broad.mit.edu	37	16	23646617	23646617	+	Missense_Mutation	SNP	G	A	A	rs45510998		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:23646617G>A	uc002dlx.1	-	3	1450	c.1250C>T	c.(1249-1251)tCc>tTc	p.S417F		NM_024675	NP_078951	Q86YC2	PALB2_HUMAN	Homo sapiens partner and localizer of BRCA2 (PALB2), mRNA.	417					double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		CTGGCAATTGGACATGCTTCG	0.398000			"""F, N, Mis"""			"""Wilms tumor, medulloblastoma, AML ,breast"""		Involved in tolerance or repair of DNA crosslinks						51			54		0	0	1	0	0
KCNQ3	3786	broad.mit.edu	37	8	133152421	133152421	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:133152421G>A	uc003ytj.3	-	10	1695	c.1470C>T	c.(1468-1470)gcC>gcT	p.A490A	KCNQ3_uc003yti.3_Silent_p.A370A|KCNQ3_uc010mdt.3_Silent_p.A490A	NM_004519	NP_004510	O43525	KCNQ3_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 3 (KCNQ3), transcript variant 1, mRNA.	490					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			CACCTGTCCCGGCATCTGGGA	0.602000														15			13		0	0	1	0	0
ZNF608	57507	broad.mit.edu	37	5	123983871	123983871	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:123983871G>A	uc003ktq.1	-	3	2389	c.2206C>T	c.(2206-2208)Cgg>Tgg	p.R736W	ZNF608_uc003ktr.1_Intron|ZNF608_uc003kts.1_Missense_Mutation_p.R736W|ZNF608_uc003ktt.1_Missense_Mutation_p.R736W	NM_020747	NP_065798	Q9ULD9	ZN608_HUMAN	Homo sapiens zinc finger protein 608 (ZNF608), mRNA.	736						intracellular	zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		GCAATGGGCCGGGCACTTTTC	0.493000														12			7		0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48313911	48313911	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:48313911C>T	uc003toq.2	+	16	4672	c.4648C>T	c.(4648-4650)Ctg>Ttg	p.L1550L	ABCA13_uc010kyr.2_Silent_p.L1053L|ABCA13_uc022acp.1_Silent_p.L49L	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	1550					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TTTAATAACACTGGGGAAGGA	0.299000														39			53		0	0	1	0	0
CASC5	57082	broad.mit.edu	37	15	40915861	40915861	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:40915861A>G	uc010bbs.1	+	10	3638	c.3477A>G	c.(3475-3477)acA>acG	p.T1159T	CASC5_uc010ucq.1_Silent_p.T983T|CASC5_uc001zme.3_Silent_p.T1133T|CASC5_uc010bbt.1_Silent_p.T1133T	NM_170589	NP_733468	Q8NG31	CASC5_HUMAN	Homo sapiens cancer susceptibility candidate 5 (CASC5), transcript variant 1, mRNA.	1159	2 X 104 AA approximate repeats.				CenH3-containing nucleosome assembly at centromere|acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		GGAGTCACACAACTGCCTTAG	0.428000														37			23		0	0	1	0	0
PCDHB16	57717	broad.mit.edu	37	5	140562669	140562669	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140562669C>T	uc003liv.3	+	0	1690	c.535C>T	c.(535-537)Cgg>Tgg	p.R179W		NM_020957	NP_066008	Q9NRJ7	PCDBG_HUMAN	Homo sapiens protocadherin beta 16 (PCDHB16), mRNA.	179	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTCTCATTTCCGGGTTCTAAT	0.448000														20			21		0	0	1	0	0
ZNF700	90592	broad.mit.edu	37	19	12059609	12059609	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:12059609A>C	uc010xme.2	+	4	1015	c.824A>C	c.(823-825)aAa>aCa	p.K275T	ZNF700_uc002msu.3_Missense_Mutation_p.K257T|ZNF700_uc010xmf.2_Intron			Q9H0M5	ZN700_HUMAN	Homo sapiens zinc finger protein 700 (ZNF700), mRNA.	257					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G274W(1)	ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						CAATGTGGTAAATCCTTTACT	0.353000														45			5		0	0	1	0	0
STARD7	56910	broad.mit.edu	37	2	96858172	96858172	+	Nonsense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:96858172C>A	uc002svm.4	-	5	1179	c.778G>T	c.(778-780)Gaa>Taa	p.E260*	STARD7_uc002svl.3_Nonsense_Mutation_p.E38*	NM_020151	NP_064536	Q9NQZ5	STAR7_HUMAN	Homo sapiens StAR-related lipid transfer (START) domain containing 7 (STARD7), mRNA.	260	START.					mitochondrion				endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|stomach(2)	14						CTGACGAATTCTGGAGACTCT	0.428000														133			9		1.08611e-07	1.25606e-07	1	1	0
CHRNA3	1136	broad.mit.edu	37	15	78893832	78893832	+	Silent	SNP	G	A	A	rs76643872		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:78893832G>A	uc002bec.3	-	4	1653	c.1152C>T	c.(1150-1152)agC>agT	p.S384S	CHRNA3_uc002beb.3_Silent_p.S384S|CHRNA3_uc002bea.3_Non-coding_Transcript	NM_000743	NP_000734	P32297	ACHA3_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 3 (CHRNA3), transcript variant 1, mRNA.	384					activation of transmembrane receptor protein tyrosine kinase activity|behavioral response to nicotine|locomotory behavior|regulation of acetylcholine secretion|regulation of dendrite morphogenesis|regulation of excitatory postsynaptic membrane potential|regulation of smooth muscle contraction|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|dendrite|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic density|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						ACTCTGCGCGGCTGAAGCAAT	0.567000														52			33		0	0	1	0	0
WDR96	80217	broad.mit.edu	37	10	105902060	105902060	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:105902060C>T	uc001kxw.3	-	32	4366	c.4250G>A	c.(4249-4251)aGa>aAa	p.R1417K	WDR96_uc009xxq.3_Missense_Mutation_p.R696K	NM_025145	NP_079421	Q8NDM7	WDR96_HUMAN	Homo sapiens WD repeat domain 96 (WDR96), mRNA.	1417										NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						ATGGAACACTCTCTCAATCTC	0.408000														118			20		0	0	1	0	0
ETAA1	54465	broad.mit.edu	37	2	67632257	67632257	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:67632257A>G	uc002sdz.1	+	4	2582	c.2443A>G	c.(2443-2445)Aca>Gca	p.T815A		NM_019002	NP_061875	Q9NY74	ETAA1_HUMAN	Homo sapiens Ewing tumor-associated antigen 1 (ETAA1), mRNA.	815						cytoplasm|nucleus				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						CCTTAACACAACAGTTGGATT	0.313000														22			28		0	0	1	0	0
PZP	5858	broad.mit.edu	37	12	9307414	9307414	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:9307414C>T	uc001qvl.3	-	28	3601	c.3572G>A	c.(3571-3573)cGc>cAc	p.R1191H	PZP_uc009zgl.3_Missense_Mutation_p.R977H	NM_002864	NP_002855			Homo sapiens pregnancy-zone protein (PZP), mRNA.											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						TCTCTGAGGGCGCTCCCAATG	0.468000														22			7		0	0	1	0	0
GOLGB1	2804	broad.mit.edu	37	3	121433774	121433774	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:121433774C>T	uc010hrc.3	-	9	1464	c.1338G>A	c.(1336-1338)ctG>ctA	p.L446L	GOLGB1_uc003eei.4_Silent_p.L441L|GOLGB1_uc003eej.4_Silent_p.L407L|GOLGB1_uc021xcy.1_Silent_p.L366L|GOLGB1_uc011bjm.1_Silent_p.L327L|GOLGB1_uc010hrd.1_Silent_p.L405L	NM_004487	NP_004478	Q14789	GOGB1_HUMAN	Homo sapiens golgin B1 (GOLGB1), mRNA.	441					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		GTTGCAAGGGCAGTCTATTTA	0.323000														71			39		0	0	1	0	0
SLC1A4	6509	broad.mit.edu	37	2	65228624	65228624	+	Splice_Site	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:65228624G>A	uc010yqa.2	+	2	853	c.570_splice	c.e2+1	p.T190_splice	SLC1A4_uc010ypz.2_Splice_Site|SLC1A4_uc002sdh.3_Splice_Site	NM_003038	NP_003029	P43007	SATT_HUMAN	Homo sapiens solute carrier family 1 (glutamate/neutral amino acid transporter), member 4 (SLC1A4), transcript variant 1, mRNA.	190					cellular nitrogen compound metabolic process|cognition|synaptic transmission, glutamatergic	intermediate filament|melanosome	L-alanine transmembrane transporter activity|L-cystine transmembrane transporter activity|L-hydroxyproline transmembrane transporter activity|L-proline transmembrane transporter activity|L-serine transmembrane transporter activity|L-threonine transmembrane transporter activity|chloride channel activity|sodium:dicarboxylate symporter activity	p.T190T(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|urinary_tract(1)	13					L-Alanine(DB00160)	CTTTCCGTACGGTAAGGCTTG	0.373000														73			40		0	0	1	0	0
ZFP30	22835	broad.mit.edu	37	19	38135552	38135552	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:38135552C>A	uc002ogv.1	-	3	611	c.95G>T	c.(94-96)aGa>aTa	p.R32I	ZFP30_uc002ogw.1_Missense_Mutation_p.R32I|ZFP30_uc002ogx.1_Missense_Mutation_p.R32I|ZFP30_uc010xtt.1_Missense_Mutation_p.R32I	NM_014898	NP_055713	Q9Y2G7	ZFP30_HUMAN	Homo sapiens zinc finger protein 30 homolog (mouse) (ZFP30), mRNA.	32	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	21			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TATCACATCTCTGTACAAATT	0.403000														90			6		0.00116845	0.00123466	1	1	0
MET	4233	broad.mit.edu	37	7	116395560	116395560	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:116395560C>T	uc003vij.3	+	5	2040	c.1853C>T	c.(1852-1854)aCg>aTg	p.T618M	MET_uc022akk.1_Missense_Mutation_p.T618M|MET_uc010lkh.3_Missense_Mutation_p.T618M|MET_uc011knc.1_Missense_Mutation_p.T618M|MET_uc011knd.2_Missense_Mutation_p.T618M|MET_uc011knf.2_Missense_Mutation_p.T618M|MET_uc011kne.2_Missense_Mutation_p.T590M|MET_uc011kng.1_Missense_Mutation_p.T618M|MET_uc011knh.1_Missense_Mutation_p.T618M|MET_uc011kni.2_Missense_Mutation_p.T618M|MET_uc011knj.2_Missense_Mutation_p.T188M	NM_000245	NP_000236	P08581	MET_HUMAN	Homo sapiens met proto-oncogene (hepatocyte growth factor receptor) (MET), transcript variant 2, mRNA.	618	IPT/TIG 1.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			AGTGAGAGCACGATGAATACG	0.363000			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)					48			48		0	0	1	0	0
PDZD7	79955	broad.mit.edu	37	10	102783729	102783729	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:102783729C>A	uc001ksn.3	-	2	573	c.323G>T	c.(322-324)gGc>gTc	p.G108V	PDZD7_uc021pxc.1_Missense_Mutation_p.G108V|PDZD7_uc001kso.2_Missense_Mutation_p.G108V	NM_024895	NP_079171	Q9H5P4	PDZD7_HUMAN	Homo sapiens PDZ domain containing 7 (PDZD7), transcript variant 2, mRNA.	108	PDZ 1.					cilium|nucleus	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)		GATGCCCAGGCCATGCTCTGA	0.577000														36			30		1.21669e-08	1.43261e-08	1	1	0
PTER	9317	broad.mit.edu	37	10	16528435	16528435	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:16528435T>G	uc001iog.1	+	3	724	c.517T>G	c.(517-519)Tcc>Gcc	p.S173A	PTER_uc001ioh.1_Missense_Mutation_p.S173A|PTER_uc001ioi.1_Missense_Mutation_p.S173A|PTER_uc009xjp.1_Missense_Mutation_p.S173A	NM_030664	NP_109589	Q96BW5	PTER_HUMAN	Homo sapiens phosphotriesterase related (PTER), transcript variant 2, mRNA.	173					catabolic process		hydrolase activity, acting on ester bonds|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)	15						AATTGGTTGCTCCTGGCCTTT	0.478000														98			7		0	0	1	0	0
NCDN	23154	broad.mit.edu	37	1	36026482	36026482	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:36026482C>A	uc001bza.3	+	3	857	c.730C>A	c.(730-732)Ctg>Atg	p.L244M	KIAA0319L_uc010ohw.2_5'Flank|NCDN_uc001bzb.3_Missense_Mutation_p.L244M|NCDN_uc001bzc.3_Missense_Mutation_p.L227M	NM_001014839	NP_001014841	Q9UBB6	NCDN_HUMAN	Homo sapiens neurochondrin (NCDN), transcript variant 1, mRNA.	244					neuron projection development	cytosol|dendrite|neuronal cell body				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CTGCCAGCTGCTGCCCCTCTT	0.637000														38			22		2.89027e-11	3.52362e-11	1	1	0
MCM5	4174	broad.mit.edu	37	22	35819225	35819225	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:35819225G>A	uc003anu.4	+	15	2088	c.1994G>A	c.(1993-1995)aGc>aAc	p.S665N	MCM5_uc003anv.4_Missense_Mutation_p.S622N|MCM5_uc003anw.1_3'UTR	NM_006739	NP_006730	P33992	MCM5_HUMAN	Homo sapiens minichromosome maintenance complex component 5 (MCM5), mRNA.	665					DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						GGCTTCACCAGCCAGGAGGAC	0.602000														48			7		0	0	1	0	0
EFNB1	1947	broad.mit.edu	37	X	68060409	68060409	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:68060409A>G	uc004dxe.2	+	4	1733	c.953A>G	c.(952-954)gAg>gGg	p.E318G	EFNB1_uc004dxd.4_Missense_Mutation_p.E318G	NM_004429	NP_004420	P98172	EFNB1_HUMAN	Homo sapiens ephrin-B1 (EFNB1), mRNA.	318					cell adhesion|cell-cell signaling	integral to plasma membrane|soluble fraction|synapse	ephrin receptor binding			breast(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	22						CCCCACTATGAGAAGGTGAGT	0.612000														15			10		0	0	1	0	0
RNF123	63891	broad.mit.edu	37	3	49751542	49751542	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49751542G>A	uc003cxh.3	+	30	3031	c.2945G>A	c.(2944-2946)cGc>cAc	p.R982H	RNF123_uc003cxi.3_Non-coding_Transcript	NM_022064	NP_071347	Q5XPI4	RN123_HUMAN	Homo sapiens ring finger protein 123 (RNF123), mRNA.	982						cytoplasm	ligase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		TTCGGGTACCGCTATACACGG	0.617000														33			28		0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152581430	152581430	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:152581430C>T	uc021vrb.1	-	4	477	c.448G>A	c.(448-450)Gta>Ata	p.V150I	NEB_uc002txu.3_Missense_Mutation_p.V150I|NEB_uc021vrc.1_Missense_Mutation_p.V150I|NEB_uc010fnx.3_Missense_Mutation_p.V150I|NEB_uc021vrd.1_Missense_Mutation_p.V150I	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	150					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TTTTCATCTACGTGACATATA	0.408000														26			14		0	0	1	0	0
BAG6	7917	broad.mit.edu	37	6	31611887	31611887	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31611887G>T	uc003nvg.4	-	11	1864	c.1550C>A	c.(1549-1551)cCt>cAt	p.P517H	BAG6_uc003nvf.4_Missense_Mutation_p.P511H|BAG6_uc003nvi.4_Missense_Mutation_p.P511H|BAG6_uc003nvh.4_Missense_Mutation_p.P511H|BAG6_uc011dnw.2_Missense_Mutation_p.P511H|BAG6_uc011dnx.2_Missense_Mutation_p.P511H	NM_004639	NP_004630	P46379	BAG6_HUMAN	Homo sapiens BCL2-associated athanogene 6 (BAG6), transcript variant 1, mRNA.	517	4 X 29 AA approximate repeats.|Pro-rich.				DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process	BAT3 complex|nucleus	polyubiquitin binding|proteasome binding|ribosome binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						GGGCCCTCCAGGATGGGAAGG	0.637000														22			12		4.36969e-10	5.24943e-10	1	1	0
DNAH7	56171	broad.mit.edu	37	2	196729638	196729638	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:196729638C>T	uc002utj.4	-	40	6842	c.6741G>A	c.(6739-6741)gaG>gaA	p.E2247E		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	2247					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GCTGAAAAAGCTCATGAAAAT	0.393000														58			32		0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	185959455	185959455	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:185959455C>A	uc001grq.1	+	21	3486	c.3257C>A	c.(3256-3258)cCt>cAt	p.P1086H	HMCN1_uc001grr.1_Missense_Mutation_p.P427H	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	1086	Ig-like C2-type 8.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CAGGATAAGCCTGTTGAGATC	0.453000														222			122		2.17066e-49	2.89247e-49	1	1	0
DGKB	1607	broad.mit.edu	37	7	14797357	14797357	+	Splice_Site	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:14797357C>T	uc003ssz.3	-	2	258	c.71_splice	c.e2-1	p.Y24_splice	DGKB_uc011jxt.2_Splice_Site_p.Y24_splice|DGKB_uc003sta.3_Splice_Site_p.Y24_splice|DGKB_uc011jxu.2_Splice_Site_p.Y24_splice|DGKB_uc011jxv.1_Splice_Site_p.Y24_splice	NM_004080	NP_004071	Q9Y6T7	DGKB_HUMAN	Homo sapiens diacylglycerol kinase, beta 90kDa (DGKB), transcript variant 1, mRNA.	24					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	TTTGTAGAATCTATAAAAAAC	0.323000														44			14		0	0	1	0	0
OMA1	115209	broad.mit.edu	37	1	59004856	59004856	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:59004856G>A	uc001cyy.3	-	1	199	c.111C>T	c.(109-111)ggC>ggT	p.G37G	DAB1_uc001cyt.1_Intron|OMA1_uc001cyx.1_Silent_p.G37G|OMA1_uc009vzz.3_Silent_p.G37G	NM_145243	NP_660286	Q96E52	OMA1_HUMAN	Homo sapiens OMA1 zinc metallopeptidase homolog (S. cerevisiae) (OMA1), mRNA.	37					proteolysis	integral to membrane|mitochondrial membrane	metal ion binding|metalloendopeptidase activity			NS(1)|breast(1)|large_intestine(6)|liver(2)|lung(6)|prostate(1)|skin(1)	18	all_cancers(7;6.54e-05)					CTTGATGACAGCCCCGTGAGG	0.403000														132			8		0	0	1	0	0
WDR6	11180	broad.mit.edu	37	3	49049221	49049221	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49049221C>A	uc003cvj.2	+	1	482	c.344C>A	c.(343-345)gCt>gAt	p.A115D	WDR6_uc011bbx.1_Intron|WDR6_uc011bby.1_Intron|WDR6_uc010hkn.2_Missense_Mutation_p.A59D|WDR6_uc011bbz.1_Missense_Mutation_p.A34D	NM_018031	NP_060501	Q9NNW5	WDR6_HUMAN	Homo sapiens WD repeat domain 6 (WDR6), mRNA.	85					cell cycle arrest|negative regulation of cell proliferation	cytoplasm				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		GCCATGGTGGCTGTGTTTGGA	0.547000														169			19		5.49717e-05	6.02306e-05	1	1	0
COL11A1	1301	broad.mit.edu	37	1	103431043	103431043	+	Splice_Site	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:103431043C>A	uc001dum.3	-	38	3270	c.2952_splice	c.e38+1	p.Q984_splice	COL11A1_uc001duk.3_Splice_Site_p.Q168_splice|COL11A1_uc001dul.3_Splice_Site_p.Q972_splice|COL11A1_uc001dun.3_Splice_Site_p.Q933_splice|COL11A1_uc009weh.3_Splice_Site_p.Q856_splice	NM_080629	NP_542196	P12107	COBA1_HUMAN	Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA.	972	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		AGGAACATACCTGTGGTCCAA	0.378000														264			16		2.23348e-06	2.52156e-06	1	1	0
KDM5A	5927	broad.mit.edu	37	12	459813	459813	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:459813G>A	uc001qif.1	-	9	1645	c.1282C>T	c.(1282-1284)Cgg>Tgg	p.R428W	KDM5A_uc010sdn.1_Missense_Mutation_p.R387W|KDM5A_uc010sdo.1_Intron	NM_001042603	NP_001036068	P29375	KDM5A_HUMAN	Homo sapiens lysine (K)-specific demethylase 5A (KDM5A), mRNA.	428					chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						ATCTTTCTCCGCCCATCCTTC	0.428000			T	NUP98	AML									49			23		0	0	1	0	0
CEP164	22897	broad.mit.edu	37	11	117261583	117261583	+	Silent	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:117261583T>G	uc001prc.3	+	15	2172	c.2025T>G	c.(2023-2025)gcT>gcG	p.A675A	CEP164_uc001prb.3_Silent_p.A678A|CEP164_uc010rxk.1_Silent_p.A649A|CEP164_uc001prf.3_Non-coding_Transcript|CEP164_uc009yzp.1_Non-coding_Transcript|CEP164_uc001prg.1_Silent_p.A108A	NM_014956	NP_055771	Q9UPV0	CE164_HUMAN	Homo sapiens centrosomal protein 164kDa (CEP164), mRNA.	675	Glu-rich.				DNA repair|G2/M transition of mitotic cell cycle|cell division|mitosis	centriole|cytosol|nucleus				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		GGCTCCGAGCTCAGGTCCAGT	0.597000														42			19		0	0	1	0	0
ATRX	546	broad.mit.edu	37	X	76776353	76776353	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:76776353C>T	uc004ecp.4	-	33	7345	c.7113G>A	c.(7111-7113)gcG>gcA	p.A2371A	ATRX_uc004ecq.4_Silent_p.A2333A|ATRX_uc004eco.4_Silent_p.A2156A	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	2371					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding			bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TTAATGCTAACGCCTGTACTT	0.353000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome							56			38		0	0	1	0	0
SALL4	57167	broad.mit.edu	37	20	50407072	50407072	+	Silent	SNP	G	A	A	rs149008635	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:50407072G>A	uc002xwh.4	-	1	2051	c.1950C>T	c.(1948-1950)ggC>ggT	p.G650G	SALL4_uc010gii.3_Intron|SALL4_uc002xwi.4_Intron	NM_020436	NP_065169	Q9UJQ4	SALL4_HUMAN	Homo sapiens sal-like 4 (Drosophila) (SALL4), mRNA.	650					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GAATCTGACCGCCCATGTGCA	0.552000														34			8		0	0	1	0	0
NBAS	51594	broad.mit.edu	37	2	15607493	15607493	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:15607493C>T	uc002rcc.1	-	18	2083	c.2057G>A	c.(2056-2058)cGg>cAg	p.R686Q	NBAS_uc002rcd.1_Non-coding_Transcript	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN	Homo sapiens neuroblastoma amplified sequence (NBAS), mRNA.	686										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						TAATAACTTCCGTCTACAACG	0.318000														58			5		0	0	1	0	0
LDB3	11155	broad.mit.edu	37	10	88476230	88476230	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:88476230G>A	uc001kdv.3	+	8	1401	c.1378G>A	c.(1378-1380)Gcc>Acc	p.A460T	LDB3_uc010qml.1_Missense_Mutation_p.A397T|LDB3_uc010qmm.2_Missense_Mutation_p.A465T|LDB3_uc009xsz.3_Missense_Mutation_p.A89T|LDB3_uc001kdu.3_Missense_Mutation_p.A350T|LDB3_uc009xta.2_5'Flank	NM_007078	NP_009009	O75112	LDB3_HUMAN	Homo sapiens LIM domain binding 3 (LDB3), transcript variant 1, mRNA.	460						cytoskeleton|perinuclear region of cytoplasm|pseudopodium	zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						cccagcaccagcctatacccc	0.687000														19			9		0	0	1	0	0
ZNF343	79175	broad.mit.edu	37	20	2474511	2474511	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:2474511C>A	uc002wge.1	-	2	519	c.31G>T	c.(31-33)Gat>Tat	p.D11Y	ZNF343_uc010gao.1_Missense_Mutation_p.D11Y|ZNF343_uc002wgd.1_5'Flank	NM_024325	NP_077301	Q6P1L6	ZN343_HUMAN	Homo sapiens zinc finger protein 343 (ZNF343), mRNA.	11					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|skin(4)|upper_aerodigestive_tract(1)	25						CAGTATTGATCTCCCAGTGCT	0.433000														152			13		6.72482e-11	8.1643e-11	1	1	0
TNFRSF11B	4982	broad.mit.edu	37	8	119941092	119941092	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:119941092G>T	uc003yon.4	-	2	800	c.477C>A	c.(475-477)ccC>ccA	p.P159P	TNFRSF11B_uc010mdc.1_Non-coding_Transcript	NM_002546	NP_002537	O00300	TR11B_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 11b (TNFRSF11B), mRNA.	159					apoptosis|skeletal system development		cytokine activity|receptor activity			breast(1)|central_nervous_system(3)|endometrium(4)|large_intestine(6)|lung(7)|prostate(3)|skin(1)	25	all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00193)			GTTTTCTACAGGGTGCTTTAG	0.413000														75			47		6.61955e-31	8.73947e-31	1	1	0
ATP10D	57205	broad.mit.edu	37	4	47517672	47517672	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:47517672C>A	uc003gxk.1	+	2	634	c.470C>A	c.(469-471)aCt>aAt	p.T157N	ATP10D_uc003gxj.3_Missense_Mutation_p.T157N	NM_020453	NP_065186	Q9P241	AT10D_HUMAN	Homo sapiens ATPase, class V, type 10D (ATP10D), mRNA.	157					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						AATTTAATAACTAAAGTTTAT	0.338000														39			15		2.23348e-06	2.52156e-06	1	1	0
USO1	8615	broad.mit.edu	37	4	76730167	76730167	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:76730167C>T	uc003hiu.3	+	19	2460	c.2285C>T	c.(2284-2286)aCa>aTa	p.T762I	USO1_uc003hiv.3_Missense_Mutation_p.T655I|USO1_uc003hiw.3_Missense_Mutation_p.T648I	NM_003715	NP_003706	O60763	USO1_HUMAN	Homo sapiens USO1 vesicle docking protein homolog (yeast) (USO1), mRNA.	813					intracellular protein transport|vesicle fusion with Golgi apparatus	Golgi membrane|cytosol	protein binding|protein transporter activity	p.G761V(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			AAACTACAGACAGAAAAGCAG	0.338000														4			6		0	0	1	0	0
CNGA2	1260	broad.mit.edu	37	X	150912736	150912736	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:150912736C>T	uc004fey.1	+	6	1985	c.1761C>T	c.(1759-1761)aaC>aaT	p.N587N		NM_005140	NP_005131	Q16280	CNGA2_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 2 (CNGA2), mRNA.	587					response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					TGGATGAGAACGAAGTGGCAA	0.547000														104			67		0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64591874	64591874	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:64591874C>A	uc001xgl.3	+	70	13730	c.13500C>A	c.(13498-13500)acC>acA	p.T4500T	SYNE2_uc001xgm.3_Silent_p.T4500T|SYNE2_uc021ruh.1_Silent_p.T4451T|SYNE2_uc010apy.3_Silent_p.T885T|SYNE2_uc010apz.1_Silent_p.T392T	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	4500					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AACTGAAAACCTATACCACCC	0.398000														57			4		0.00909568	0.00940365	1	1	0
DDC	1644	broad.mit.edu	37	7	50530983	50530983	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:50530983G>T	uc003tpg.4	-	13	1590	c.1389C>A	c.(1387-1389)gcC>gcA	p.A463A	DDC_uc022ade.1_Silent_p.A385A|DDC_uc003tpf.4_Silent_p.A463A|DDC_uc022adb.1_Silent_p.A425A|DDC_uc022adc.1_Silent_p.A415A|DDC_uc022add.1_Silent_p.A370A	NM_001082971	NP_001076440	P20711	DDC_HUMAN	Homo sapiens dopa decarboxylase (aromatic L-amino acid decarboxylase) (DDC), transcript variant 1, mRNA.	463					cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)	TGTGTTCCCAGGCCCGCTGCA	0.577000														12			13		1.49906e-05	1.66078e-05	1	1	0
DCST2	127579	broad.mit.edu	37	1	155003095	155003095	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155003095G>A	uc001fgm.3	-	5	912	c.832C>T	c.(832-834)Cgt>Tgt	p.R278C	DCST2_uc009wpb.3_Non-coding_Transcript	NM_144622	NP_653223	Q5T1A1	DCST2_HUMAN	Homo sapiens DC-STAMP domain containing 2 (DCST2), mRNA.	278						integral to membrane		p.R278H(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			AACTCCTGACGCACCCGGTTG	0.617000														37			10		0	0	1	0	0
SKA1	220134	broad.mit.edu	37	18	47917508	47917508	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:47917508G>A	uc002let.3	+	5	648	c.464G>A	c.(463-465)cGc>cAc	p.R155H	SKA1_uc002leu.3_Missense_Mutation_p.R155H|SKA1_uc010xdl.2_Missense_Mutation_p.R109H	NM_145060	NP_659497	Q96BD8	SKA1_HUMAN	Homo sapiens spindle and kinetochore associated complex subunit 1 (SKA1), transcript variant 2, mRNA.	155					cell division|chromosome segregation|mitotic anaphase|mitotic prometaphase|regulation of microtubule polymerization or depolymerization	condensed chromosome outer kinetochore|cytosol|spindle microtubule	microtubule binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(1)|prostate(1)	13						ATGAAATCCCGCTTAACCTAT	0.259000														25			17		0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126371190	126371190	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:126371190G>T	uc003ifj.4	+	8	9019	c.9019G>T	c.(9019-9021)Gca>Tca	p.A3007S	FAT4_uc011cgp.2_Missense_Mutation_p.A1305S|FAT4_uc003ifi.1_Missense_Mutation_p.A485S	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	3007	Cadherin 29.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CAGAGTTACAGCAATAGATGA	0.338000														49			16		1.02788e-11	1.25893e-11	1	1	0
SHROOM2	357	broad.mit.edu	37	X	9864183	9864183	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:9864183G>A	uc004csu.1	+	3	2325	c.2235G>A	c.(2233-2235)ccG>ccA	p.P745P		NM_001649	NP_001640	Q13796	SHRM2_HUMAN	Homo sapiens shroom family member 2 (SHROOM2), mRNA.	745	ASD1.				apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				GGCCCCACCCGCCCCGCATCG	0.627000														7			5		0	0	1	0	0
ASCC3	10973	broad.mit.edu	37	6	101247437	101247437	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:101247437A>C	uc003pqk.3	-	6	1468	c.1139T>G	c.(1138-1140)cTt>cGt	p.L380R	ASCC3_uc011eai.1_Missense_Mutation_p.L282R|ASCC3_uc003pql.3_Missense_Mutation_p.L380R	NM_006828	NP_006819	Q8N3C0	HELC1_HUMAN	Homo sapiens activating signal cointegrator 1 complex subunit 3 (ASCC3), transcript variant 1, mRNA.	380					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		AGCATTCAGAAGTGCCTGTTC	0.378000														44			4		0	0	1	0	0
BC067347	0	broad.mit.edu	37	17	20747203	20747203	+	RNA	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:20747203G>A	uc010crb.2	+	1		c.591G>A								Homo sapiens cDNA clone IMAGE:6269068, partial cds.																		CATGCGCGTCGCCTTCCCTGA	0.736000														9			5		0	0	1	0	0
ACAD8	27034	broad.mit.edu	37	11	134127006	134127006	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:134127006C>T	uc001qhk.3	+	2	296	c.235C>T	c.(235-237)Cgg>Tgg	p.R79W	ACAD8_uc009zdc.3_Intron|ACAD8_uc010sco.1_Intron|ACAD8_uc010scp.1_Intron|ACAD8_uc010scq.2_Missense_Mutation_p.R2W|ACAD8_uc001qhl.3_Intron|ACAD8_uc010scr.1_Missense_Mutation_p.R41W|ACAD8_uc009zde.1_5'Flank	NM_014384	NP_055199	Q9UKU7	ACAD8_HUMAN	Homo sapiens acyl-CoA dehydrogenase family, member 8 (ACAD8), nuclear gene encoding mitochondrial protein, mRNA.	79					branched chain family amino acid catabolic process|lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding			endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	14	all_hematologic(175;0.127)	all_cancers(12;8e-23)|all_epithelial(12;2.59e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|all_neural(223;0.0189)|Medulloblastoma(222;0.0245)|Esophageal squamous(93;0.0559)		Epithelial(10;1.92e-10)|all cancers(11;2.26e-09)|BRCA - Breast invasive adenocarcinoma(10;8.73e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00154)|Lung(977;0.21)		GGATGTGATGCGGAAGGCAGC	0.527000														73			6		0	0	1	0	0
FBXO46	23403	broad.mit.edu	37	19	46215271	46215271	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:46215271C>T	uc002pcz.3	-	1	1606	c.1483G>A	c.(1483-1485)Gcc>Acc	p.A495T	FBXO46_uc002pcy.3_Missense_Mutation_p.A495T|FBXO46_uc021uvz.1_Missense_Mutation_p.A495T	NM_001080469	NP_001073938	Q6PJ61	FBX46_HUMAN	Homo sapiens F-box protein 46 (FBXO46), mRNA.	495	F-box.						protein binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	15		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)		CACTTGAGGGCGGCCAGCGCG	0.652000														9			3		0	0	1	0	0
ATP5J2-PTCD1	100526740	broad.mit.edu	37	7	99032629	99032629	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:99032629C>A	uc011kiw.2	-	2	444	c.384G>T	c.(382-384)caG>caT	p.Q128H	ATP5J2-PTCD1_uc003uqh.3_Missense_Mutation_p.Q79H	NM_001198879	NP_001185808	B4DJ38	B4DJ38_HUMAN	Homo sapiens ATP5J2-PTCD1 readthrough (ATP5J2-PTCD1), mRNA.	128																	CGTCTTCTTCCTGCGTGGCCG	0.607000														82			8		1.12685e-05	1.25391e-05	1	1	0
CCDC111	201973	broad.mit.edu	37	4	185615881	185615881	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:185615881G>A	uc003iwk.2	+	13	2064	c.1631G>A	c.(1630-1632)aGt>aAt	p.S544N	CCDC111_uc003iwj.2_Missense_Mutation_p.S543N|CCDC111_uc003iwm.2_Missense_Mutation_p.S415N|CCDC111_uc003iwn.2_Missense_Mutation_p.S284N|MLF1IP_uc003iwp.3_Non-coding_Transcript|MLF1IP_uc003iwq.3_3'UTR	NM_152683	NP_689896	Q96LW4	CC111_HUMAN	Homo sapiens coiled-coil domain containing 111 (CCDC111), mRNA.	544					DNA replication, synthesis of RNA primer		DNA primase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(2)	16		all_lung(41;9.65e-12)|Lung NSC(41;1.64e-11)|Colorectal(36;0.00531)|Hepatocellular(41;0.00932)|Renal(120;0.0246)|Prostate(90;0.0283)|all_hematologic(60;0.0749)|all_neural(102;0.131)		all cancers(43;5.84e-27)|Epithelial(43;2.2e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.28e-11)|STAD - Stomach adenocarcinoma(60;2.66e-05)|GBM - Glioblastoma multiforme(59;3.03e-05)|Colorectal(24;7.57e-05)|BRCA - Breast invasive adenocarcinoma(30;0.000249)|COAD - Colon adenocarcinoma(29;0.000502)|LUSC - Lung squamous cell carcinoma(40;0.00995)|READ - Rectum adenocarcinoma(43;0.173)		AGTTATAACAGTGAAGTGGAT	0.363000														27			12		0	0	1	0	0
VCX	26609	broad.mit.edu	37	X	7811790	7811790	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:7811790C>T	uc004crz.3	+	2	573	c.354C>T	c.(352-354)agC>agT	p.S118S		NM_013452	NP_038480	Q9H320	VCX1_HUMAN	Homo sapiens variable charge, X-linked (VCX), mRNA.	118	10 X 10 AA tandem repeats of L-S-Q-E-S- [EQ]-V-E-E-P.|Glu-rich.				chromatin organization|ribosome assembly|spermatogenesis	nucleolus	chromatin binding	p.S118S(2)		NS(1)|endometrium(4)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	10		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)				GTCAGGAGAGCGAGGTGGAAG	0.637000														109			43		0	0	1	0	0
KIAA1683	80726	broad.mit.edu	37	19	18376492	18376492	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:18376492A>C	uc010ebn.2	-	2	2074	c.1858T>G	c.(1858-1860)Ttt>Gtt	p.F620V	KIAA1683_uc002nin.2_Missense_Mutation_p.F620V|KIAA1683_uc010xqe.1_Missense_Mutation_p.F574V	NM_001145304	NP_001138776	Q9H0B3	K1683_HUMAN	Homo sapiens KIAA1683 (KIAA1683), transcript variant 1, mRNA.	620						mitochondrion				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						CTGGTCTTAAATGCCATGTCT	0.542000														64			4		0	0	1	0	0
IRF3	3661	broad.mit.edu	37	19	50166499	50166499	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:50166499G>A	uc002poy.2	-	2	1373	c.354C>T	c.(352-354)tcC>tcT	p.S118S	IRF3_uc021uxp.1_5'UTR|IRF3_uc021uxq.1_5'UTR|IRF3_uc002pot.2_Silent_p.S118S|IRF3_uc021uxr.1_5'UTR|IRF3_uc021uxs.1_5'UTR|IRF3_uc002pow.3_Silent_p.S118S|IRF3_uc021uxo.1_Silent_p.S83S|IRF3_uc002pou.3_Silent_p.S118S|IRF3_uc010end.2_Silent_p.S118S|IRF3_uc002poz.1_Silent_p.S118S|IRF3_uc010ene.1_Missense_Mutation_p.P61L|BCL2L12_uc002ppa.3_5'Flank|BCL2L12_uc002ppb.3_5'Flank	NM_001197126	NP_001184055	Q14653	IRF3_HUMAN	Homo sapiens interferon regulatory factor 3 (IRF3), transcript variant 6, mRNA.	118					MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|negative regulation of type I interferon production|response to virus|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|endosome membrane|nucleoplasm|plasma membrane	DNA binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|large_intestine(2)|lung(4)|ovary(2)|stomach(1)	10		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.02)		TGTCTGGCTGGGAAAAGTCCC	0.582000														99			6		0	0	1	0	0
ANO5	203859	broad.mit.edu	37	11	22249017	22249017	+	Missense_Mutation	SNP	G	A	A	rs146725859		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:22249017G>A	uc001mqi.2	+	6	850	c.533G>A	c.(532-534)aGt>aAt	p.S178N	ANO5_uc001mqj.2_Missense_Mutation_p.S177N	NM_213599	NP_998764	Q75V66	ANO5_HUMAN	Homo sapiens anoctamin 5 (ANO5), transcript variant 1, mRNA.	178						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity	p.S178I(2)		breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CTCCCACTGAGTGTGAAGTAT	0.463000														60			51		0	0	1	0	0
ZNF44	51710	broad.mit.edu	37	19	12383810	12383810	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:12383810G>T	uc010xmj.2	-	4	1609	c.1404C>A	c.(1402-1404)ccC>ccA	p.P468P	ZNF44_uc002mtl.3_Intron|ZNF44_uc010xmi.2_Non-coding_Transcript|ZNF44_uc002mtn.4_Non-coding_Transcript|ZNF44_uc010dys.3_Silent_p.P420P	NM_001164276	NP_001157748	P15621	ZNF44_HUMAN	Homo sapiens zinc finger protein 44 (ZNF44), transcript variant 1, mRNA.	468					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)	1		Renal(1328;0.157)		GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179)		TGCATTCATAGGGTTTCTCTC	0.433000														27			19		1.67942e-08	1.97205e-08	1	1	0
NDUFS7	374291	broad.mit.edu	37	19	1390944	1390944	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:1390944C>T	uc002lsf.2	+	5	604	c.495C>T	c.(493-495)taC>taT	p.Y165Y	NDUFS7_uc002lsh.3_Silent_p.Y165Y|NDUFS7_uc002lsg.2_Silent_p.Y108Y|NDUFS7_uc002lse.4_Silent_p.Y101Y			O75251	NDUS7_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase) (NDUFS7), nuclear gene encoding mitochondrial protein, mRNA.	101					mitochondrial electron transport, NADH to ubiquinone|mitochondrial respiratory chain complex I assembly|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|NADH dehydrogenase (ubiquinone) activity|metal ion binding|protein binding|quinone binding			ovary(1)	1		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)|Breast(49;0.00186)|Lung NSC(49;0.00292)|all_lung(49;0.00419)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	NADH(DB00157)	CACCCCGCTACGACATGGACC	0.667000														37			4		0	0	1	0	0
RPL17-C18ORF32	100526842	broad.mit.edu	37	18	47010026	47010026	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:47010026G>A	uc002ldm.2	-	5	636	c.623C>T	c.(622-624)tCg>tTg	p.S208L	C18orf32_uc002ldk.2_Silent_p.F31F|C18orf32_uc002ldl.3_Silent_p.F31F|RPL17-C18ORF32_uc021ujt.1_Missense_Mutation_p.S170L	NM_001199355	NP_001186284			Homo sapiens RPL17-C18orf32 readthrough (RPL17-C18ORF32), transcript variant 1, mRNA.																		TACGACTAACGAAGGGGGAAA	0.388000														91			54		0	0	1	0	0
LRRN2	10446	broad.mit.edu	37	1	204587428	204587428	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:204587428G>A	uc021phy.1	-	0	1693	c.1693C>T	c.(1693-1695)Cgg>Tgg	p.R565W	MDM4_uc001hbd.2_Intron|LRRN2_uc001hbe.1_Missense_Mutation_p.R565W|LRRN2_uc001hbf.1_Missense_Mutation_p.R565W|LRRN2_uc009xbf.1_Missense_Mutation_p.R565W|MDM4_uc001hbc.3_Intron	NM_201630	NP_963924	O75325	LRRN2_HUMAN	Homo sapiens leucine rich repeat neuronal 2 (LRRN2), transcript variant 2, mRNA.	565					cell adhesion	integral to membrane	receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			CCCTGGCCCCGGAGGGAGGAG	0.657000														39			27		0	0	1	0	0
SPATA22	84690	broad.mit.edu	37	17	3352234	3352234	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:3352234G>A	uc002fvm.3	-	5	777	c.539C>T	c.(538-540)tCa>tTa	p.S180L	SPATA22_uc010vrg.2_Missense_Mutation_p.S164L|SPATA22_uc010vrf.2_Missense_Mutation_p.S180L|SPATA22_uc002fvo.3_Missense_Mutation_p.S180L|SPATA22_uc002fvn.3_Missense_Mutation_p.S180L|SPATA22_uc002fvp.3_Missense_Mutation_p.S180L|SPATA22_uc010ckf.3_Missense_Mutation_p.S137L	NM_032598	NP_115987	Q8NHS9	SPT22_HUMAN	Homo sapiens spermatogenesis associated 22 (SPATA22), transcript variant 2, mRNA.	180										breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)	19						TATTTTTGATGAATGTGTTTG	0.383000														209			17		0	0	1	0	0
C10orf116	10974	broad.mit.edu	37	10	88728331	88728331	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:88728331G>T	uc001ked.2	+	0	144	c.30G>T	c.(28-30)aaG>aaT	p.K10N	AGAP11_uc001kee.2_5'Flank|AL157440_uc001kec.1_3'UTR	NM_006829	NP_006820	Q15847	APM2_HUMAN	Homo sapiens chromosome 10 open reading frame 116 (C10orf116), mRNA.	10										autonomic_ganglia(1)|stomach(1)	2						AGGACCTGAAGCAACAGGTGG	0.652000														9			12		1.08611e-07	1.25606e-07	1	1	0
NOD2	64127	broad.mit.edu	37	16	50750562	50750562	+	Missense_Mutation	SNP	G	A	A	rs104895445		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:50750562G>A	uc002egm.1	+	4	2632	c.2527G>A	c.(2527-2529)Gag>Aag	p.E843K	NOD2_uc010cbl.1_Missense_Mutation_p.E621K|NOD2_uc010cbm.1_Missense_Mutation_p.E621K|NOD2_uc010cbn.1_Intron|NOD2_uc010cbo.1_Intron|NOD2_uc010cbp.1_Intron|NOD2_uc010cbq.1_5'UTR|NOD2_uc010cbr.1_Intron	NM_022162	NP_071445	Q9HC29	NOD2_HUMAN	Homo sapiens nucleotide-binding oligomerization domain containing 2 (NOD2), mRNA.	843			E -> K (associated with Crohn disease).		JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of ERK1 and ERK2 cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of Notch signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of gamma-delta T cell activation|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				TCTTCACTGCGAGCAATTGCA	0.493000														18			9		0	0	1	0	0
STAM2	10254	broad.mit.edu	37	2	153000472	153000472	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:153000472T>C	uc002tyc.4	-	6	923	c.573A>G	c.(571-573)ttA>ttG	p.L191L	STAM2_uc010foa.1_Silent_p.L191L|STAM2_uc002tyd.3_Silent_p.L191L	NM_005843	NP_005834	O75886	STAM2_HUMAN	Homo sapiens signal transducing adaptor molecule (SH3 domain and ITAM motif) 2 (STAM2), mRNA.	191					cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	protein binding			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)	16				BRCA - Breast invasive adenocarcinoma(221;0.22)		AAGATGGATATAAGGATTTTG	0.318000														29			17		0	0	1	0	0
MPP7	143098	broad.mit.edu	37	10	28358723	28358723	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:28358723C>T	uc001iua.1	-	14	1586	c.1182G>A	c.(1180-1182)caG>caA	p.Q394Q	MPP7_uc009xkz.1_Non-coding_Transcript|MPP7_uc001iub.1_Silent_p.Q394Q|MPP7_uc009xla.2_Silent_p.Q394Q|MPP7_uc010qdv.1_Non-coding_Transcript	NM_173496	NP_775767	Q5T2T1	MPP7_HUMAN	Homo sapiens membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7) (MPP7), mRNA.	394	Guanylate kinase-like.				establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						CGCCATAGTGCTGGGTGTCAC	0.398000														20			11		0	0	1	0	0
ANKRD19P	138649	broad.mit.edu	37	9	95599978	95599978	+	RNA	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:95599978G>A	uc004ass.2	+	8		c.2062G>A			ANKRD19P_uc004asr.4_Non-coding_Transcript					Homo sapiens ankyrin repeat domain 19, pseudogene (ANKRD19P), non-coding RNA.																		AGGACGCGACGACCAGGGAGG	0.453000														6			6		0	0	1	0	0
LRIT3	345193	broad.mit.edu	37	4	110791214	110791214	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:110791214G>A	uc003hzx.4	+	2	1367	c.1174G>A	c.(1174-1176)Gcc>Acc	p.A392T	LRIT3_uc003hzw.4_Missense_Mutation_p.A254T	NM_198506	NP_940908	Q3SXY7	LRIT3_HUMAN	Homo sapiens leucine-rich repeat, immunoglobulin-like and transmembrane domains 3 (LRIT3), mRNA.	392						integral to membrane				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	16				OV - Ovarian serous cystadenocarcinoma(123;0.0011)		TACCACCATGGCCAACAAGCG	0.468000														32			30		0	0	1	0	0
ACAP3	116983	broad.mit.edu	37	1	1231407	1231407	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:1231407G>A	uc001aeb.2	-	16	1564	c.1490C>T	c.(1489-1491)gCc>gTc	p.A497V	ACAP3_uc001ady.2_Missense_Mutation_p.A227V|ACAP3_uc001aea.2_Missense_Mutation_p.A455V	NM_030649	NP_085152	Q96P50	ACAP3_HUMAN	Homo sapiens ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 (ACAP3), mRNA.	497	Arf-GAP.				filopodium assembly|regulation of ARF GTPase activity|signal transduction		ARF GTPase activator activity|SH3 domain binding|cytoskeletal adaptor activity|zinc ion binding			endometrium(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	14						GGAGCTGCTGGCTGTGGGTTT	0.622000														32			9		0	0	1	0	0
ZBTB17	7709	broad.mit.edu	37	1	16272784	16272784	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:16272784C>T	uc001axl.4	-	4	639	c.400G>A	c.(400-402)Gac>Aac	p.D134N	ZBTB17_uc010obs.2_Missense_Mutation_p.D58N|ZBTB17_uc010obq.2_Missense_Mutation_p.D52N|ZBTB17_uc010obr.2_Missense_Mutation_p.D134N|ZBTB17_uc010obt.1_Missense_Mutation_p.D71N|ZBTB17_uc010obu.2_Missense_Mutation_p.D58N|ZBTB17_uc009vom.1_Missense_Mutation_p.D77N|ZBTB17_uc010obv.1_Missense_Mutation_p.D134N	NM_003443	NP_003434	Q13105	ZBT17_HUMAN	Homo sapiens zinc finger and BTB domain containing 17 (ZBTB17), transcript variant 2, mRNA.	134					negative regulation of cell cycle	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)	15		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|Colorectal(212;4.12e-07)|COAD - Colon adenocarcinoma(227;2.43e-05)|BRCA - Breast invasive adenocarcinoma(304;9.97e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		GCTCTCTTGTCCCCTCCTGGA	0.622000														71			39		0	0	1	0	0
TAF4B	6875	broad.mit.edu	37	18	23866114	23866114	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:23866114C>T	uc002kvt.4	+	6	1730	c.1241C>T	c.(1240-1242)tCt>tTt	p.S414F	TAF4B_uc002kvu.4_Missense_Mutation_p.S414F|TAF4B_uc002kvs.4_Non-coding_Transcript	NM_005640	NP_005631	Q92750	TAF4B_HUMAN	Homo sapiens TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa (TAF4B), mRNA.	414					transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleolus|transcription factor TFIID complex	DNA binding|NF-kappaB binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|prostate(1)|skin(1)	29	all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124)		Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267)			ACACTTCATTCTGTGGGCCCA	0.498000														28			19		0	0	1	0	0
CCDC129	223075	broad.mit.edu	37	7	31682426	31682426	+	Missense_Mutation	SNP	C	T	T	rs138066602	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:31682426C>T	uc011kae.2	+	10	1532	c.1520C>T	c.(1519-1521)gCg>gTg	p.A507V	CCDC129_uc011kad.1_Missense_Mutation_p.A491V|CCDC129_uc003tcj.1_Missense_Mutation_p.A481V|CCDC129_uc003tci.1_Missense_Mutation_p.A332V|CCDC129_uc003tck.1_Missense_Mutation_p.A389V	NM_194300	NP_919276	Q6ZRS4	CC129_HUMAN	Homo sapiens coiled-coil domain containing 129 (CCDC129), mRNA.	481								p.L507L(1)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						AAAAGTAGGGCGAGCATGTCT	0.512000														99			36		0	0	1	0	0
SCN3A	6328	broad.mit.edu	37	2	165947770	165947770	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:165947770G>A	uc002ucx.3	-	27	5385	c.4893C>T	c.(4891-4893)atC>atT	p.I1631I	SCN3A_uc010zcy.2_Silent_p.I114I|SCN3A_uc002ucy.3_Silent_p.I1582I|SCN3A_uc002ucz.3_Silent_p.I1582I	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	Homo sapiens sodium channel, voltage-gated, type III, alpha subunit (SCN3A), transcript variant 1, mRNA.	1631						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	TCAGACGTAGGATTCGGCCAA	0.488000														61			48		0	0	1	0	0
DCUN1D5	84259	broad.mit.edu	37	11	102937048	102937048	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:102937048G>T	uc001phm.3	-	5	848	c.505C>A	c.(505-507)Ctg>Atg	p.L169M	DCUN1D5_uc010ruw.2_Missense_Mutation_p.L100M	NM_032299	NP_115675	Q9BTE7	DCNL5_HUMAN	Homo sapiens DCN1, defective in cullin neddylation 1, domain containing 5 (S. cerevisiae) (DCUN1D5), mRNA.	169	DCUN1.									NS(1)|central_nervous_system(1)|endometrium(2)	4		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.00032)|Epithelial(105;0.0689)|all cancers(92;0.186)		CTCCCAAGCAGAAGAGCTAAC	0.333000														50			4		0.00024832	0.000267289	1	1	0
RNF38	152006	broad.mit.edu	37	9	36357831	36357831	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:36357831G>T	uc003zzh.3	-	4	870	c.679C>A	c.(679-681)Cca>Aca	p.P227T	RNF38_uc003zzi.3_Missense_Mutation_p.P177T|RNF38_uc003zzj.3_Missense_Mutation_p.P144T|RNF38_uc003zzk.3_Missense_Mutation_p.P144T|RNF38_uc003zzl.3_Missense_Mutation_p.P151T|RNF38_uc003zzm.3_Missense_Mutation_p.P144T	NM_022781	NP_919313	Q9H0F5	RNF38_HUMAN	Homo sapiens ring finger protein 38 (RNF38), transcript variant 1, mRNA.	227							zinc ion binding			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(1)|lung(3)|stomach(1)	11			STAD - Stomach adenocarcinoma(86;0.228)			GAGCATCCTGGGACCTGCTGT	0.483000														33			29		1.77063e-15	2.23094e-15	1	1	0
NPAT	4863	broad.mit.edu	37	11	108059858	108059858	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:108059858G>A	uc001pjz.4	-	5	633	c.531C>T	c.(529-531)caC>caT	p.H177H	NPAT_uc001pka.3_5'UTR	NM_002519	NP_002510	Q14207	NPAT_HUMAN	Homo sapiens nuclear protein, ataxia-telangiectasia locus (NPAT), mRNA.	177	Interaction with MIZF.				positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		GTGACTGTGAGTGGTTGACCA	0.368000														41			25		0	0	1	0	0
USP8	9101	broad.mit.edu	37	15	50769490	50769490	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:50769490T>C	uc001zym.4	+	10	1512	c.1012T>C	c.(1012-1014)Tca>Cca	p.S338P	USP8_uc001zyk.1_Missense_Mutation_p.S39P|USP8_uc001zyl.4_Missense_Mutation_p.S338P|USP8_uc001zyn.4_Missense_Mutation_p.S338P|USP8_uc010ufh.2_Missense_Mutation_p.S261P|USP8_uc010bev.1_5'UTR	NM_001128611	NP_005145	P40818	UBP8_HUMAN	Homo sapiens ubiquitin specific peptidase 8 (USP8), transcript variant 3, mRNA.	338					cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	SH3 domain binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		TACTTATCCCTCATTGGAAGA	0.348000														27			10		0	0	1	0	0
RABGAP1L	9910	broad.mit.edu	37	1	174671315	174671315	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:174671315C>A	uc001gjx.3	+	16	2367	c.2090C>A	c.(2089-2091)tCc>tAc	p.S697Y	RABGAP1L_uc001gkb.4_5'UTR|RABGAP1L_uc001gkc.4_Missense_Mutation_p.S4Y|RABGAP1L_uc001gkd.4_Missense_Mutation_p.S23Y	NM_014857	NP_055672	Q5R372	RBG1L_HUMAN	Homo sapiens RAB GTPase activating protein 1-like (RABGAP1L), transcript variant 1, mRNA.	697	Rab-GAP TBC.				regulation of protein localization	Golgi apparatus|early endosome|nucleus	Rab GTPase activator activity			NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2)	45						ATGTATGCATCCCAGTGGTTT	0.438000														53			40		6.1244e-12	7.52355e-12	1	1	0
PCDHGC5	56097	broad.mit.edu	37	5	140764376	140764376	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140764376C>T	uc003lka.2	+	0	1910	c.1910C>T	c.(1909-1911)gCc>gTc	p.A637V	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003ljz.1_Missense_Mutation_p.A637V	NM_018920	NP_061743	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 7 (PCDHGA7), transcript variant 1, mRNA.	639	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)			GACAGAGATGCCCTCAAGCAG	0.647000														22			6		0	0	1	0	0
CDC23	8697	broad.mit.edu	37	5	137527974	137527974	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:137527974G>A	uc003lcl.3	-	10	1301	c.1270C>T	c.(1270-1272)Cgg>Tgg	p.R424W		NM_004661	NP_004652	Q9UJX2	CDC23_HUMAN	Homo sapiens cell division cycle 23 homolog (S. cerevisiae) (CDC23), mRNA.	424					G1 phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase plate congression|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of exit from mitosis	anaphase-promoting complex|cytosol|nucleoplasm	binding|ubiquitin-protein ligase activity	p.R423*(1)		autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(6)|prostate(2)|skin(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TGGTGGGCCCGTCTATAATAA	0.438000														37			26		0	0	1	0	0
PADI3	51702	broad.mit.edu	37	1	17575639	17575639	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:17575639C>A	uc001bai.3	+	0	47	c.7C>A	c.(7-9)Ctg>Atg	p.L3M		NM_016233	NP_057317	Q9ULW8	PADI3_HUMAN	Homo sapiens peptidyl arginine deiminase, type III (PADI3), mRNA.	3					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	CAGCATGTCGCTGCAGAGAAT	0.612000														57			10		0.0581538	0.0591027	1	1	0
LRIG3	121227	broad.mit.edu	37	12	59276728	59276728	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:59276728A>G	uc001sqr.3	-	11	1649	c.1403T>C	c.(1402-1404)gTa>gCa	p.V468A	LRIG3_uc009zqh.3_Missense_Mutation_p.V408A|LRIG3_uc010ssh.2_Non-coding_Transcript	NM_153377	NP_700356	Q6UXM1	LRIG3_HUMAN	Homo sapiens leucine-rich repeats and immunoglobulin-like domains 3 (LRIG3), transcript variant 2, mRNA.	468	LRRCT.					integral to membrane			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			ACTGGCATTTACAAAGCTCTG	0.453000			T	ROS1	NSCLC									66			6		0	0	1	0	0
SHANK2	22941	broad.mit.edu	37	11	70331536	70331536	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:70331536G>A	uc001oqc.3	-	20	4776	c.4664C>T	c.(4663-4665)gCa>gTa	p.A1555V	SHANK2_uc010rqn.2_Missense_Mutation_p.A1031V|SHANK2_uc001opz.3_Missense_Mutation_p.A1026V|BC127192_uc009ysn.1_Intron|SHANK2_uc001opy.3_Intron	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 2 (SHANK2), transcript variant 1, mRNA.	1242					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|SH3 domain binding|ionotropic glutamate receptor binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			AATAACGTTTGCCTTTGGGCC	0.527000														49			30		0	0	1	0	0
ITSN2	50618	broad.mit.edu	37	2	24494740	24494740	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:24494740G>A	uc002rfe.2	-	18	2410	c.2152C>T	c.(2152-2154)Cga>Tga	p.R718*	ITSN2_uc002rff.2_Nonsense_Mutation_p.R691*|ITSN2_uc002rfg.3_Nonsense_Mutation_p.R718*	NM_006277	NP_006268	Q9NZM3	ITSN2_HUMAN	Homo sapiens intersectin 2 (ITSN2), transcript variant 1, mRNA.	718					endocytosis|regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity|calcium ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					tcctggagtcgcttttgtttt	0.338000														47			33		0	0	1	0	0
ITGA7	3679	broad.mit.edu	37	12	56091753	56091753	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56091753C>A	uc001shh.3	-	7	1482	c.1262G>T	c.(1261-1263)aGc>aTc	p.S421I	ITGA7_uc001shg.3_Missense_Mutation_p.S417I|ITGA7_uc010sps.2_Missense_Mutation_p.S324I|ITGA7_uc009znw.3_5'Flank|ITGA7_uc009znx.3_Missense_Mutation_p.S304I	NM_001144996	NP_001138468	Q13683	ITA7_HUMAN	Homo sapiens integrin, alpha 7 (ITGA7), transcript variant 1, mRNA.	461					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						CCCCAGGCTGCTCCCATGGTA	0.597000														113			68		7.59065e-32	1.00277e-31	1	1	0
MBTPS1	8720	broad.mit.edu	37	16	84126863	84126863	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:84126863C>A	uc002fhi.3	-	5	1278	c.776G>T	c.(775-777)aGc>aTc	p.S259I		NM_003791	NP_003782	Q14703	MBTP1_HUMAN	Homo sapiens membrane-bound transcription factor peptidase, site 1 (MBTPS1), mRNA.	259	Serine protease.				cholesterol metabolic process|proteolysis	Golgi membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						CTCCCTCATGCTGGCTATCAC	0.468000														43			16		8.00594e-06	8.94864e-06	1	1	0
LRP5	4041	broad.mit.edu	37	11	68133048	68133048	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:68133048G>A	uc001ont.3	+	4	968	c.893G>A	c.(892-894)cGc>cAc	p.R298H	LRP5_uc009ysg.3_5'UTR	NM_002335	NP_002326	O75197	LRP5_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 5 (LRP5), mRNA.	298	EGF-like 1.				Wnt receptor signaling pathway involved in dorsal/ventral axis specification|adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GTCCACACTCGCTGTGAGGAG	0.592000														96			69		0	0	1	0	0
OR5L2	26338	broad.mit.edu	37	11	55595089	55595089	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:55595089A>G	uc001nhy.1	+	0	395	c.395A>G	c.(394-396)tAc>tGc	p.Y132C		NM_001004739	NP_001004739	Q8NGL0	OR5L2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily L, member 2 (OR5L2), mRNA.	132					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L131P(1)		breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				CCCCTGCTGTACATGGTGACC	0.527000										HNSCC(27;0.073)				146			56		0	0	1	0	0
ZNF439	90594	broad.mit.edu	37	19	11979032	11979032	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:11979032A>G	uc002mss.3	+	2	1276	c.1148A>G	c.(1147-1149)aAa>aGa	p.K383R	ZNF439_uc002msr.3_Missense_Mutation_p.K247R	NM_152262	NP_689475	Q8NDP4	ZN439_HUMAN	Homo sapiens zinc finger protein 439 (ZNF439), mRNA.	383					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(7)|pancreas(1)|skin(2)	27						AAACCGTATAAATGCAAGCAA	0.418000														50			5		0	0	1	0	0
SEMA3A	10371	broad.mit.edu	37	7	83592532	83592532	+	Nonsense_Mutation	SNP	G	A	A	rs144701441		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:83592532G>A	uc003uhz.3	-	15	2164	c.1849C>T	c.(1849-1851)Cga>Tga	p.R617*		NM_006080	NP_006071	Q14563	SEM3A_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A (SEMA3A), mRNA.	617	Ig-like C2-type.				axon guidance	extracellular region|membrane	receptor activity			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						TCTTCTTTTCGCTCTTCATTT	0.388000														133			47		0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64453335	64453335	+	Splice_Site	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:64453335G>T	uc001xgl.3	+	19	2543	c.2313_splice	c.e19+1	p.K771_splice	SYNE2_uc001xgm.3_Splice_Site_p.K771_splice|SYNE2_uc021ruh.1_Splice_Site_p.K771_splice	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	771					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AATCTTTGAAGGTATGTGTGT	0.343000														61			35		2.42023e-17	3.08103e-17	1	1	0
PCNT	5116	broad.mit.edu	37	21	47836174	47836174	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:47836174C>T	uc002zji.4	+	29	6449	c.6342C>T	c.(6340-6342)tcC>tcT	p.S2114S	PCNT_uc002zjj.3_Silent_p.S1996S	NM_006031	NP_006022	O95613	PCNT_HUMAN	Homo sapiens pericentrin (PCNT), mRNA.	2114					G2/M transition of mitotic cell cycle|cilium assembly	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					GTGATGATTCCTGTGACGGAG	0.507000														15			16		0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48314705	48314705	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:48314705G>T	uc003toq.2	+	16	5466	c.5442G>T	c.(5440-5442)gaG>gaT	p.E1814D	ABCA13_uc010kyr.2_Missense_Mutation_p.E1317D|ABCA13_uc022acp.1_Missense_Mutation_p.E313D	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	1814					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TTATTTCAGAGGCTTTAGCTT	0.373000														28			4		0.00909568	0.00940365	1	1	0
UACA	55075	broad.mit.edu	37	15	70969450	70969450	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:70969450G>A	uc002asr.3	-	11	1133	c.1029C>T	c.(1027-1029)agC>agT	p.S343S	UACA_uc010uke.2_Silent_p.S234S|UACA_uc002asq.3_Silent_p.S330S|UACA_uc010bin.1_Intron	NM_018003	NP_060473	Q9BZF9	UACA_HUMAN	Homo sapiens uveal autoantigen with coiled-coil domains and ankyrin repeats (UACA), transcript variant 1, mRNA.	343						cytoskeleton|extracellular region				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						ACCCTACCTCGCTTTCCAGAT	0.303000														43			33		0	0	1	0	0
FGA	2243	broad.mit.edu	37	4	155507082	155507082	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:155507082A>G	uc003iod.1	-	4	1557	c.1499T>C	c.(1498-1500)tTg>tCg	p.L500S	FGA_uc003ioe.1_Missense_Mutation_p.L500S|FGA_uc003iof.1_Intron	NM_000508	NP_000499	P02671	FIBA_HUMAN	Homo sapiens fibrinogen alpha chain (FGA), transcript variant alpha-E, mRNA.	500					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	TATGCCAGACAATGTGCCTAA	0.488000														88			8		0	0	1	0	0
CNN3	1266	broad.mit.edu	37	1	95367782	95367782	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:95367782A>G	uc001dqz.4	-	3	564	c.279T>C	c.(277-279)atT>atC	p.I93I	CNN3_uc010otv.2_Silent_p.I52I|CNN3_uc010otx.2_Intron	NM_001839	NP_001830	Q15417	CNN3_HUMAN	Homo sapiens calponin 3, acidic (CNN3), mRNA.	93	CH.				actomyosin structure organization|smooth muscle contraction		actin binding|calmodulin binding|tropomyosin binding|troponin C binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|stomach(1)|urinary_tract(2)	18		all_lung(203;0.00206)|Lung NSC(277;0.00948)		all cancers(265;0.0325)|Epithelial(280;0.0861)		CATAAGCCTGAATAGCTTTAA	0.348000														42			19		0	0	1	0	0
TMEM182	130827	broad.mit.edu	37	2	103378809	103378809	+	Splice_Site	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:103378809G>A	uc010fjb.3	+	1	319	c.132_splice	c.e1+1	p.N44_splice	TMEM182_uc002tcc.4_Intron|TMEM182_uc002tcd.4_Intron	NM_144632	NP_653233	Q6ZP80	TM182_HUMAN	Homo sapiens transmembrane protein 182 (TMEM182), mRNA.	44						integral to membrane				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)	11						TGAAAAGAATGTGAGTCTCTT	0.403000														115			13		0	0	1	0	0
SMS	6611	broad.mit.edu	37	X	21985378	21985378	+	Silent	SNP	G	A	A	rs138924455	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:21985378G>A	uc004dag.3	+	1	342	c.114G>A	c.(112-114)tcG>tcA	p.S38S	SMS_uc011mjq.2_5'UTR	NM_004595	NP_004586	P52788	SPSY_HUMAN	Homo sapiens spermine synthase (SMS), mRNA.	38					methionine metabolic process|spermine biosynthetic process	cytosol	spermidine synthase activity|spermine synthase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(2)	14					Spermine(DB00127)	TGGCGGAGTCGGTGCACACCT	0.517000														31			11		0	0	1	0	0
DCHS1	8642	broad.mit.edu	37	11	6662069	6662069	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6662069C>T	uc001mem.1	-	1	1177	c.776G>A	c.(775-777)cGc>cAc	p.R259H		NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	Homo sapiens dachsous 1 (Drosophila) (DCHS1), mRNA.	259	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGCATGGTAGCGGCTCTGATT	0.607000														55			39		0	0	1	0	0
CEP290	80184	broad.mit.edu	37	12	88514815	88514815	+	Nonsense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:88514815C>A	uc001tar.3	-	13	1662	c.1318G>T	c.(1318-1320)Gaa>Taa	p.E440*	CEP290_uc001tat.3_Nonsense_Mutation_p.E202*|CEP290_uc009zsl.1_Non-coding_Transcript	NM_025114	NP_079390	O15078	CE290_HUMAN	Homo sapiens centrosomal protein 290kDa (CEP290), mRNA.	440					G2/M transition of mitotic cell cycle|cilium assembly|eye photoreceptor cell development|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding			breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						TCAACTAATTCTTTATCCTTT	0.358000														25			13		9.31168e-06	1.03939e-05	1	1	0
TBC1D17	79735	broad.mit.edu	37	19	50387952	50387952	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:50387952C>T	uc002pqo.3	+	12	1680	c.1381C>T	c.(1381-1383)Cgg>Tgg	p.R461W	TBC1D17_uc010ybg.2_Missense_Mutation_p.R428W|TBC1D17_uc002pqp.3_Missense_Mutation_p.R112W|TBC1D17_uc002pqr.3_Missense_Mutation_p.R112W	NM_024682	NP_078958	Q9HA65	TBC17_HUMAN	Homo sapiens TBC1 domain family, member 17 (TBC1D17), transcript variant 1, mRNA.	461	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			NS(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15		all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017)		GACCATGAAGCGGCAACTCGG	0.627000														31			17		0	0	1	0	0
RNF146	81847	broad.mit.edu	37	6	127608039	127608039	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:127608039T>C	uc021zes.1	+	2	417	c.281T>C	c.(280-282)cTc>cCc	p.L94P	RNF146_uc021zet.1_Missense_Mutation_p.L93P|RNF146_uc021zeu.1_Missense_Mutation_p.L93P|RNF146_uc021zev.1_Missense_Mutation_p.L93P|RNF146_uc021zew.1_Missense_Mutation_p.L94P|RNF146_uc003qat.3_Missense_Mutation_p.L93P|RNF146_uc021zex.1_Missense_Mutation_p.L93P|RNF146_uc003qaw.3_Missense_Mutation_p.L93P|RNF146_uc003qau.3_Missense_Mutation_p.L93P|RNF146_uc003qav.3_Missense_Mutation_p.L94P|RNF146_uc021zey.1_Missense_Mutation_p.L93P	NM_001242851	NP_001229780	Q9NTX7	RN146_HUMAN	Homo sapiens ring finger protein 146 (RNF146), transcript variant 10, mRNA.	94	WWE.				Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked ubiquitination|protein autoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytosol	poly-ADP-D-ribose binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(226;0.0407)|all cancers(137;0.2)		CCAGAAGAACTCAAGGCAGCA	0.463000														38			14		0	0	1	0	0
DDX46	9879	broad.mit.edu	37	5	134152280	134152280	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:134152280G>A	uc003kzw.3	+	18	2765	c.2597G>A	c.(2596-2598)gGc>gAc	p.G866D	DDX46_uc003kzv.1_Non-coding_Transcript	NM_014829	NP_055644	Q7L014	DDX46_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 46 (DDX46), mRNA.	866					RNA splicing|mRNA processing	Cajal body|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding			NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AAGAATTTGGGCATCGAGTCT	0.368000														23			11		0	0	1	0	0
ASB9	140462	broad.mit.edu	37	X	15266936	15266936	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:15266936A>G	uc004cwl.3	-	5	987	c.690T>C	c.(688-690)gcT>gcC	p.A230A	ASB9_uc004cwm.3_Silent_p.A220A|ASB9_uc004cwk.3_Silent_p.A230A|ASB9_uc010ner.3_Silent_p.A230A|ASB9_uc004cwn.2_Silent_p.A201A	NM_001031739	NP_001026909	Q96DX5	ASB9_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 9 (ASB9), transcript variant 1, mRNA.	230					intracellular signal transduction					breast(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(10)	15	Hepatocellular(33;0.183)					GTTTGCCTTCAGCATTCTTGG	0.562000														47			22		0	0	1	0	0
B4GALNT3	283358	broad.mit.edu	37	12	668483	668483	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:668483C>T	uc001qii.1	+	18	2784	c.2784C>T	c.(2782-2784)ttC>ttT	p.F928F	B4GALNT3_uc001qik.1_Silent_p.F477F	NM_173593	NP_775864	Q6L9W6	B4GN3_HUMAN	Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 3 (B4GALNT3), mRNA.	928						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			TGAATGGGTTCGGGCTGCTTG	0.612000														52			28		0	0	1	0	0
NDUFAF4	29078	broad.mit.edu	37	6	97339264	97339264	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:97339264T>C	uc003pow.3	-	2	334	c.244A>G	c.(244-246)Aaa>Gaa	p.K82E	NDUFAF4_uc003pov.3_Non-coding_Transcript	NM_014165	NP_054884	Q9P032	NDUF4_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 4 (NDUFAF4), nuclear gene encoding mitochondrial protein, mRNA.	82					mitochondrial respiratory chain complex I assembly	mitochondrial membrane	calmodulin binding			large_intestine(5)|lung(3)|ovary(1)|skin(1)	10						TCAGCAGCTTTTACCTAGTAT	0.328000														63			12		0	0	1	0	0
OR5D13	390142	broad.mit.edu	37	11	55541339	55541339	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:55541339C>A	uc010ril.2	+	0	426	c.426C>A	c.(424-426)ctC>ctA	p.L142L		NM_001001967	NP_001001967	Q8NGL4	OR5DD_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 13 (OR5D13), mRNA.	142					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L142P(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				CTCAGAAGCTCTGTGCTCTTC	0.433000														206			14		3.41278e-10	4.10877e-10	1	1	0
CHD6	84181	broad.mit.edu	37	20	40141613	40141613	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:40141613C>A	uc002xka.1	-	4	902	c.724G>T	c.(724-726)Gta>Tta	p.V242L	CHD6_uc002xkd.2_Missense_Mutation_p.V220L|CHD6_uc002xkc.3_Missense_Mutation_p.V277L	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 6 (CHD6), mRNA.	242					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|chromatin binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				CTGCGCTTTACTTGCCTTCCC	0.478000														289			28		4.34311e-12	5.33645e-12	1	1	0
SPTBN5	51332	broad.mit.edu	37	15	42170634	42170634	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:42170634G>A	uc001zos.3	-	16	3604	c.3271C>T	c.(3271-3273)Cgc>Tgc	p.R1091C		NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 5 (SPTBN5), mRNA.	1126					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		TCCTTGCTGCGCAGCTGAGCC	0.652000														13			3		0	0	1	0	0
BMP10	27302	broad.mit.edu	37	2	69093325	69093325	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:69093325C>T	uc002sez.1	-	1	872	c.713G>A	c.(712-714)cGg>cAg	p.R238Q		NM_014482	NP_055297	O95393	BMP10_HUMAN	Homo sapiens bone morphogenetic protein 10 (BMP10), mRNA.	238					BMP signaling pathway|Notch signaling pathway|activin receptor signaling pathway|adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle cell proliferation|heart trabecula formation|negative regulation of cardiac muscle hypertrophy|negative regulation of cell growth|negative regulation of endothelial cell migration|pathway-restricted SMAD protein phosphorylation|positive regulation of cardiac muscle cell proliferation|positive regulation of cardiac muscle hypertrophy|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent|sarcomere organization|ventricular cardiac muscle cell development|ventricular cardiac muscle tissue morphogenesis	Z disc|cell surface|extracellular space	cytokine activity|growth factor activity|receptor serine/threonine kinase binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2)	27						TATTTCTAGCCGTCCACTGCT	0.498000														32			15		0	0	1	0	0
ZCCHC18	644353	broad.mit.edu	37	X	103359095	103359095	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:103359095T>C	uc011msh.2	+	2	1609	c.293T>C	c.(292-294)aTg>aCg	p.M98T	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.	98							nucleic acid binding|zinc ion binding										CGGGAGGTCATGCGTTTGCTT	0.517000														59			26		0	0	1	0	0
DDB2	1643	broad.mit.edu	37	11	47256422	47256422	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:47256422C>T	uc001neb.2	+	5	1012	c.817C>T	c.(817-819)Cgc>Tgc	p.R273C	DDB2_uc001nec.2_Intron|DDB2_uc009yli.1_Missense_Mutation_p.R209C|DDB2_uc001ned.2_Intron|DDB2_uc001nee.2_Intron|DDB2_uc001nef.2_Intron	NM_000107	NP_000098	Q92466	DDB2_HUMAN	Homo sapiens damage-specific DNA binding protein 2, 48kDa (DDB2), mRNA.	273			R -> H (in XP-E; impairs interaction with DDB1 and CUL4A).		nucleotide-excision repair, DNA damage removal|protein autoubiquitination|protein polyubiquitination|response to UV	nucleoplasm|protein complex	damaged DNA binding|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(1)	17						TTGGGACCTGCGCCAGGTTAG	0.537000			"""Mis, N"""			"""skin basal cell, skin squamous cell, melanoma"""		Direct reversal of damage;Nucleotide excision repair (NER)	Xeroderma Pigmentosum					24			14		0	0	1	0	0
MGLL	11343	broad.mit.edu	37	3	127413948	127413948	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:127413948C>T	uc003ejx.3	-	6	801	c.656G>A	c.(655-657)cGg>cAg	p.R219Q	MGLL_uc003ejw.3_Missense_Mutation_p.R229Q|MGLL_uc011bko.2_Missense_Mutation_p.R199Q|MGLL_uc003ejv.3_Missense_Mutation_p.R193Q	NM_001003794	NP_001003794	Q99685	MGLL_HUMAN	Homo sapiens monoglyceride lipase (MGLL), transcript variant 2, mRNA.	219					arachidonic acid metabolic process|fatty acid biosynthetic process|inflammatory response|platelet activation|regulation of endocannabinoid signaling pathway|regulation of inflammatory response|regulation of sensory perception of pain|triglyceride catabolic process	plasma membrane	acylglycerol lipase activity|carboxylesterase activity|lysophospholipase activity|protein homodimerization activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	6						GCGCTCCACCCGTGAGACGGC	0.607000														51			7		0	0	1	0	0
METTL21B	25895	broad.mit.edu	37	12	58174193	58174193	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:58174193G>A	uc001sqg.3	+	2	570	c.445G>A	c.(445-447)Ggg>Agg	p.G149R	TSFM_uc021qzq.1_5'Flank|METTL21B_uc001sqf.3_3'UTR|METTL21B_uc009zqd.3_Non-coding_Transcript|TSFM_uc001sqh.3_5'Flank|TSFM_uc001sqi.3_5'Flank|TSFM_uc010ssf.2_5'Flank|TSFM_uc010sse.2_5'Flank	NM_015433	NP_056248	Q96AZ1	MT21B_HUMAN	Homo sapiens methyltransferase like 21B (METTL21B), transcript variant 1, mRNA.	149						integral to membrane|intracellular	methyltransferase activity			endometrium(1)|lung(1)	2						CCTGGTGCTGGGGGCTGATAT	0.607000														32			25		0	0	1	0	0
KNG1	3827	broad.mit.edu	37	3	186459812	186459812	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:186459812G>A	uc011bsa.2	+	9	1861	c.1627G>A	c.(1627-1629)Gaa>Aaa	p.E543K	KNG1_uc003fqr.3_Intron|KNG1_uc021xil.1_Intron	NM_001102416	NP_001095886	P01042	KNG1_HUMAN	Homo sapiens kininogen 1 (KNG1), transcript variant 1, mRNA.	543					blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation	extracellular space|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding			endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2)	21	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)	Ouabain(DB01092)	AGAGAAGACAGAAGGGCCAAC	0.458000														34			18		0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168106741	168106741	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:168106741T>G	uc002udx.3	+	8	8928	c.8839T>G	c.(8839-8841)Ttc>Gtc	p.F2947V	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.F2772V|XIRP2_uc010fpq.3_Missense_Mutation_p.F2725V|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	2772					actin cytoskeleton organization	cell junction	actin binding	p.F2947L(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TATAGTGGAATTCTTGAGAAA	0.368000														102			14		0	0	1	0	0
LOC407835	407835	broad.mit.edu	37	7	128766727	128766727	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:128766727G>A	uc003voo.3	+	0	403	c.156G>A	c.(154-156)cgG>cgA	p.R52R						Homo sapiens mitogen-activated protein kinase kinase 2 pseudogene (LOC407835), non-coding RNA.																		AGCAGAAGCGGCTGGAAGCCT	0.627000														68			6		0	0	1	0	0
SLC4A5	57835	broad.mit.edu	37	2	74466478	74466478	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:74466478C>T	uc002sko.1	-	15	2305	c.2303G>A	c.(2302-2304)cGc>cAc	p.R768H	SLC4A5_uc002skl.3_Non-coding_Transcript|SLC4A5_uc002skn.3_Missense_Mutation_p.R768H|SLC4A5_uc010ffc.1_Missense_Mutation_p.R768H|SLC4A5_uc002skp.1_Missense_Mutation_p.R704H|SLC4A5_uc002sks.1_Missense_Mutation_p.R768H	NM_021196	NP_067019	Q9BY07	S4A5_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 5 (SLC4A5), transcript variant a, mRNA.	768						apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						AGGAAAATAGCGGCTGAATTT	0.522000														23			15		0	0	1	0	0
CASP1	834	broad.mit.edu	37	11	104897026	104897026	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:104897026C>T	uc001pim.4	-	8	1174	c.1174G>A	c.(1174-1176)Gtg>Atg	p.V392M	CASP1_uc001pig.3_Missense_Mutation_p.V299M|CASP1_uc021qpq.1_Missense_Mutation_p.V371M|CASP1_uc021qpr.1_Missense_Mutation_p.V251M|CASP1_uc021qps.1_Missense_Mutation_p.V76M|CASP1_uc021qpp.1_Missense_Mutation_p.V392M|CASP1_uc021qpt.1_Missense_Mutation_p.V299M|CASP1_uc010rve.2_Missense_Mutation_p.V392M|CASP1_uc010rvf.2_Missense_Mutation_p.V299M|CASP1_uc010rvg.2_Missense_Mutation_p.V371M|CASP1_uc010rvh.2_Missense_Mutation_p.V251M|CASP1_uc010rvi.2_Missense_Mutation_p.V76M|CASP1_uc009yxi.3_Missense_Mutation_p.V371M|CASP1_uc021qpu.1_Missense_Mutation_p.V299M|CASP1_uc021qpv.1_Missense_Mutation_p.V371M|CASP1_uc021qpw.1_Missense_Mutation_p.V251M|CASP1_uc021qpx.1_Missense_Mutation_p.V76M|CASP1_uc010rvj.2_Missense_Mutation_p.V392M	NM_033292	NP_150634	P29466	CASP1_HUMAN	Homo sapiens caspase 1, apoptosis-related cysteine peptidase (interleukin 1, beta, convertase) (CASP1), transcript variant alpha, mRNA.	392					cellular response to mechanical stimulus|cellular response to organic substance|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis|signal transduction	cytosol	caspase activator activity|cysteine-type endopeptidase activity|protein binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	Minocycline(DB01017)|Penicillamine(DB00859)	GTCAAAGTCACTCTTTCAGTG	0.443000														49			36		0	0	1	0	0
PCSK1	5122	broad.mit.edu	37	5	95730650	95730650	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:95730650A>G	uc003kls.2	-	12	2041	c.1802T>C	c.(1801-1803)aTg>aCg	p.M601T	PCSK1_uc010jbi.2_Missense_Mutation_p.M291T|PCSK1_uc021ybq.1_Missense_Mutation_p.M554T	NM_000439	NP_000430	P29120	NEC1_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 1 (PCSK1), transcript variant 1, mRNA.	601					cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AGGCTGCTTCATATGCTCTGG	0.473000														69			13		0	0	1	0	0
RBP3	5949	broad.mit.edu	37	10	48390151	48390151	+	Missense_Mutation	SNP	C	T	T	rs149256669	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:48390151C>T	uc001jez.3	-	0	841	c.727G>A	c.(727-729)Gcg>Acg	p.A243T		NM_002900	NP_002891	P10745	RET3_HUMAN	Homo sapiens retinol binding protein 3, interstitial (RBP3), mRNA.	243	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity	p.A243T(2)		central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	AGGATGTGCGCGATGTCCTCG	0.647000														24			14		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179419595	179419595	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179419595G>T	uc021vsy.1	-	279	81112	c.80887C>A	c.(80887-80889)Ctt>Att	p.L26963I	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.L20658I|TTN_uc021vta.1_Missense_Mutation_p.L20591I|TTN_uc021vtb.1_Missense_Mutation_p.L20466I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	27890	Fibronectin type-III 96.						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)			CACCTACCAAGGATCTGTACT	0.398000														33			13		2.27111e-07	2.61452e-07	1	1	0
INPP4B	8821	broad.mit.edu	37	4	143044465	143044465	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:143044465T>C	uc003iix.4	-	20	2592	c.1997A>G	c.(1996-1998)gAa>gGa	p.E666G	INPP4B_uc003iiw.4_Missense_Mutation_p.E666G|INPP4B_uc011chm.2_Non-coding_Transcript|INPP4B_uc011chn.1_Missense_Mutation_p.E481G|INPP4B_uc011cho.1_Non-coding_Transcript|INPP4B_uc011chp.1_Missense_Mutation_p.E537G	NM_003866	NP_003857	O15327	INP4B_HUMAN	Homo sapiens inositol polyphosphate-4-phosphatase, type II, 105kDa (INPP4B), transcript variant 1, mRNA.	666					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					TAGCAGTCCTTCATATTGTAC	0.363000														79			5		0	0	1	0	0
MSTN	2660	broad.mit.edu	37	2	190926970	190926970	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:190926970A>C	uc002urp.3	-	0	486	c.353T>G	c.(352-354)aTc>aGc	p.I118S		NM_005259	NP_005250	O14793	GDF8_HUMAN	Homo sapiens myostatin (MSTN), mRNA.	118					muscle organ development|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)	12			OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395)			CATGGTAATGATTGTTTCCGT	0.428000														77			12		0	0	1	0	0
KCNA1	3736	broad.mit.edu	37	12	5021550	5021550	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:5021550G>A	uc001qnh.3	+	1	2111	c.1006G>A	c.(1006-1008)Ggg>Agg	p.G336R	KCNA1_uc021qts.1_Missense_Mutation_p.G336R	NM_000217	NP_000208	Q09470	KCNA1_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia) (KCNA1), mRNA.	336					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity	p.I335I(1)|p.G336V(1)		NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CCTCTTCATCGGGGTCATCCT	0.552000														61			39		0	0	1	0	0
XIRP1	165904	broad.mit.edu	37	3	39227239	39227239	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:39227239C>T	uc003cjk.2	-	1	3927	c.3698G>A	c.(3697-3699)cGc>cAc	p.R1233H	XIRP1_uc003cji.3_Intron|XIRP1_uc003cjj.3_Intron|XIRP1_uc021wvz.1_Missense_Mutation_p.R1233H	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	Homo sapiens xin actin-binding repeat containing 1 (XIRP1), transcript variant 1, mRNA.	1233							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		CAGAATGTGGCGGCCTAGAGG	0.642000														22			11		0	0	1	0	0
KLF6	1316	broad.mit.edu	37	10	3821778	3821778	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:3821778A>C	uc001iha.3	-	3	1072	c.805T>G	c.(805-807)Ttt>Gtt	p.F269V	KLF6_uc010qaj.2_Silent_p.V227V|KLF6_uc010qak.2_Non-coding_Transcript|KLF6_uc010qal.2_Missense_Mutation_p.F227V	NM_001300	NP_001291	Q99612	KLF6_HUMAN	Homo sapiens Kruppel-like factor 6 (KLF6), transcript variant A, mRNA.	269					B cell differentiation	nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				Colorectal(1;0.238)		GACCTGGAAAAACACCTGCAA	0.582000														13			8		0	0	1	0	0
RNF144B	255488	broad.mit.edu	37	6	18427916	18427916	+	Splice_Site	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:18427916G>A	uc003ncs.3	+	3	587	c.270_splice	c.e3+1	p.E90_splice		NM_182757	NP_877434	Q7Z419	R144B_HUMAN	Homo sapiens ring finger protein 144B (RNF144B), mRNA.	90					apoptosis|positive regulation of anti-apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	integral to membrane|mitochondrial membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(7)	11	Ovarian(93;0.00365)|Breast(50;0.0145)	all_hematologic(90;0.0536)	OV - Ovarian serous cystadenocarcinoma(7;0.00165)|all cancers(50;0.0102)|Epithelial(50;0.0105)			AGGAAGCTGAGGTATGAATGA	0.458000														24			3		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2967741	2967741	+	Nonsense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:2967741C>A	uc022aqr.1	-	42	6937	c.6547G>T	c.(6547-6549)Gga>Tga	p.G2183*	CSMD1_uc011kwj.2_Nonsense_Mutation_p.G1576*|CSMD1_uc010lrg.3_Nonsense_Mutation_p.G252*	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	2184	CUB 13.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ATGTAAACTCCGTGCCCTGGA	0.473000														10			5		0.014758	0.0151755	1	1	0
KIAA1217	56243	broad.mit.edu	37	10	24790356	24790356	+	Missense_Mutation	SNP	C	T	T	rs141937477		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:24790356C>T	uc001iru.4	+	8	2286	c.1883C>T	c.(1882-1884)aCg>aTg	p.T628M	KIAA1217_uc001irs.3_Missense_Mutation_p.T548M|KIAA1217_uc001irt.4_Missense_Mutation_p.T593M|KIAA1217_uc010qcy.2_Missense_Mutation_p.T593M|KIAA1217_uc010qcz.2_Missense_Mutation_p.T593M|KIAA1217_uc001irv.1_Missense_Mutation_p.T443M|KIAA1217_uc010qda.1_Non-coding_Transcript|KIAA1217_uc001irw.3_Missense_Mutation_p.T311M|KIAA1217_uc001irz.3_Missense_Mutation_p.T311M|KIAA1217_uc001irx.3_Missense_Mutation_p.T311M|KIAA1217_uc001iry.3_Missense_Mutation_p.T311M	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	628					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						CTGGAGTCCACGGTGCCTCCC	0.582000														33			23		0	0	1	0	0
SCML4	256380	broad.mit.edu	37	6	108070930	108070930	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:108070930C>T	uc010kdf.3	-	2	495	c.244G>A	c.(244-246)Gca>Aca	p.A82T	SCML4_uc003prz.4_Missense_Mutation_p.A24T|SCML4_uc011eam.1_Missense_Mutation_p.A82T|SCML4_uc003psa.3_Missense_Mutation_p.A53T	NM_198081	NP_932347	Q8N228	SCML4_HUMAN	Homo sapiens sex comb on midleg-like 4 (Drosophila) (SCML4), mRNA.	82					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(1)	25		all_cancers(87;3.26e-06)|Acute lymphoblastic leukemia(125;3.08e-08)|all_hematologic(75;1.15e-06)|all_epithelial(87;0.00142)|Colorectal(196;0.0316)		BRCA - Breast invasive adenocarcinoma(108;0.01)|Epithelial(106;0.0509)|all cancers(137;0.0586)|OV - Ovarian serous cystadenocarcinoma(136;0.0758)		ACCGTGGCTGCGTCCTGAGGG	0.602000														78			8		0	0	1	0	0
C11orf35	256329	broad.mit.edu	37	11	558622	558622	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:558622C>T	uc001lpx.3	-	2	366	c.303G>A	c.(301-303)ccG>ccA	p.P101P	AX748330_uc001lpy.3_Non-coding_Transcript|BC031953_uc001lpz.3_5'Flank|RASSF7_uc001lqb.3_5'Flank|RASSF7_uc001lqc.3_5'Flank|RASSF7_uc001lqd.3_5'Flank	NM_173573	NP_775844	Q8IXW0	CK035_HUMAN	Homo sapiens chromosome 11 open reading frame 35 (C11orf35), mRNA.	101										NS(1)|breast(1)|central_nervous_system(1)|lung(4)|pancreas(1)	8		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ACCTCTTGGGCGGAAGCCCCG	0.667000														6			5		0	0	1	0	0
ADORA3	140	broad.mit.edu	37	1	112045664	112045664	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:112045664C>T	uc001ebh.4	-	0	1080	c.313G>A	c.(313-315)Gct>Act	p.A105T	ADORA3_uc001ebg.4_Intron|ADORA3_uc001ebf.3_Missense_Mutation_p.A105T	NM_000677	NP_000668	P33765	AA3R_HUMAN	Homo sapiens adenosine A3 receptor (ADORA3), transcript variant 2, mRNA.	105			A -> T (in a colorectal cancer sample; somatic mutation).		activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction	integral to plasma membrane	adenosine receptor activity, G-protein coupled	p.A105T(2)		NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	Adenosine(DB00640)|Aminophylline(DB01223)	CGGTCCACAGCGATGGCCAGC	0.552000														26			10		0	0	1	0	0
DNAJC11	55735	broad.mit.edu	37	1	6700036	6700036	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:6700036G>A	uc001aof.2	-	10	1285	c.1179C>T	c.(1177-1179)acC>acT	p.T393T	DNAJC11_uc001aog.2_Intron|DNAJC11_uc010nzu.1_Silent_p.T303T	NM_018198	NP_060668	Q9NVH1	DJC11_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 11 (DNAJC11), mRNA.	393					protein folding		heat shock protein binding|unfolded protein binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		GAGGCCCCACGGTGGCATAGA	0.512000														23			3		0	0	1	0	0
PITX2	5308	broad.mit.edu	37	4	111539657	111539657	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:111539657C>T	uc003iaf.3	-	6	2401	c.578G>A	c.(577-579)aGc>aAc	p.S193N	PITX2_uc003iac.3_Missense_Mutation_p.S200N|PITX2_uc003iad.3_Missense_Mutation_p.S193N|PITX2_uc021xqr.1_Missense_Mutation_p.S193N|PITX2_uc003iae.3_Missense_Mutation_p.S147N|PITX2_uc021xqs.1_Missense_Mutation_p.S147N	NM_001204397	NP_001191326	Q99697	PITX2_HUMAN	Homo sapiens paired-like homeodomain 2 (PITX2), transcript variant 4, mRNA.	193					determination of left/right symmetry|organ morphogenesis	transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			breast(1)|endometrium(3)|large_intestine(1)|lung(5)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00222)		GAAGGGGAAGCTCTTGGTGGA	0.537000														26			10		0	0	1	0	0
SNRNP200	23020	broad.mit.edu	37	2	96956538	96956538	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:96956538C>A	uc002svu.3	-	18	2569	c.2437G>T	c.(2437-2439)Gca>Tca	p.A813S		NM_014014	NP_054733	O75643	U520_HUMAN	Homo sapiens small nuclear ribonucleoprotein 200kDa (U5) (SNRNP200), mRNA.	813	Helicase C-terminal 1.					U5 snRNP|catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						GCTAGAGTTGCTGTGGAAACT	0.507000														63			9		0.00621372	0.00645399	1	1	0
ZNF761	388561	broad.mit.edu	37	19	53959491	53959491	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:53959491C>A	uc010eqp.3	+	6	2188	c.1730C>A	c.(1729-1731)cCt>cAt	p.P577H	ZNF761_uc010ydy.2_Missense_Mutation_p.P523H|ZNF761_uc002qbt.2_Missense_Mutation_p.P523H	NM_001008401	NP_001008401	Q86XN6	ZN761_HUMAN	Homo sapiens zinc finger protein 761 (ZNF761), mRNA.	577					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		GGAGAGAACCCTTACAAATGT	0.383000														50			38		6.05902e-23	7.8814e-23	1	1	0
PTPN9	5780	broad.mit.edu	37	15	75798101	75798101	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:75798101C>T	uc002bal.3	-	6	1391	c.883G>A	c.(883-885)Gtt>Att	p.V295I		NM_002833	NP_002824	P43378	PTN9_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 9 (PTPN9), mRNA.	295						cytoplasmic part	non-membrane spanning protein tyrosine phosphatase activity|protein binding			central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CTGGCATTAACATAGTCCACC	0.468000														52			22		0	0	1	0	0
PODNL1	79883	broad.mit.edu	37	19	14047218	14047218	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:14047218C>T	uc002mxr.3	-	2	576	c.302G>A	c.(301-303)cGa>cAa	p.R101Q	PODNL1_uc010xni.2_Missense_Mutation_p.E41K|PODNL1_uc010xnj.2_Missense_Mutation_p.R99Q|PODNL1_uc002mxs.3_Missense_Mutation_p.R99Q	NM_024825	NP_079101	Q6PEZ8	PONL1_HUMAN	Homo sapiens podocan-like 1 (PODNL1), transcript variant 1, mRNA.	101	Leu-rich.					proteinaceous extracellular matrix				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(19;5.26e-23)			GTTGAGGGTTCGCAGGCCACT	0.627000														50			30		0	0	1	0	0
FAM24B	196792	broad.mit.edu	37	10	124608857	124608857	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:124608857G>T	uc001lgt.3	-	3	525	c.191C>A	c.(190-192)tCt>tAt	p.S64Y	CUZD1_uc001lgs.3_5'UTR|CUZD1_uc010qtz.2_Intron|FAM24B_uc021qai.1_Missense_Mutation_p.S64Y	NM_152644	NP_689857	Q8N5W8	FA24B_HUMAN	Homo sapiens family with sequence similarity 24, member B (FAM24B), transcript variant 1, mRNA.	64						extracellular region				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4		all_neural(114;0.0765)|Lung NSC(174;0.163)|all_lung(145;0.205)		Colorectal(40;0.136)|COAD - Colon adenocarcinoma(40;0.141)		GGCAGGACAAGACTCCGTGGC	0.512000														28			29		1.04121e-07	1.20885e-07	1	1	0
ZFHX3	463	broad.mit.edu	37	16	72992774	72992774	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:72992774G>T	uc002fck.3	-	1	1944	c.1271C>A	c.(1270-1272)gCt>gAt	p.A424D	ZFHX3_uc002fcl.3_Intron	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	424					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				AGGACTGGAAGCCAGAGGCCC	0.607000														104			64		1.02487e-32	1.35506e-32	1	1	0
USP22	23326	broad.mit.edu	37	17	20922431	20922431	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:20922431C>T	uc002gym.4	-	3	690	c.486G>A	c.(484-486)ccG>ccA	p.P162P	USP22_uc002gyn.4_Silent_p.P150P|USP22_uc002gyl.4_Silent_p.P57P	NM_015276	NP_056091	Q9UPT9	UBP22_HUMAN	Homo sapiens ubiquitin specific peptidase 22 (USP22), mRNA.	162					cell cycle|embryo development|histone H4 acetylation|histone deubiquitination|histone ubiquitination|positive regulation of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	15						TTCTCCTTTTCGGGTTGTGCT	0.473000														67			42		0	0	1	0	0
CTTN	2017	broad.mit.edu	37	11	70275272	70275272	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:70275272G>A	uc001opv.4	+	13	1349	c.1143G>A	c.(1141-1143)cgG>cgA	p.R381R	CTTN_uc001opu.3_Silent_p.R344R|CTTN_uc001opw.4_Silent_p.R344R|CTTN_uc010rqm.2_Silent_p.R65R|CTTN_uc001opx.3_Silent_p.R65R	NM_005231	NP_005222	Q14247	SRC8_HUMAN	Homo sapiens cortactin (CTTN), transcript variant 1, mRNA.	381						cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction	protein binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)		CCAAGGAGCGGCAGGAGCAGG	0.627000														28			5		0	0	1	0	0
BEX1	55859	broad.mit.edu	37	X	102318100	102318100	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:102318100C>T	uc022cbj.1	-	0	103	c.103G>A	c.(103-105)Gcc>Acc	p.A35T	BEX1_uc004ejt.1_Missense_Mutation_p.A35T	NM_018476	NP_060946	Q9HBH7	BEX1_HUMAN	Homo sapiens brain expressed, X-linked 1 (BEX1), mRNA.	35					cell differentiation|nervous system development	cytoplasm|nucleus		p.A35T(2)		endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	12						AAAGGGAGGGCCAAGGGCTCC	0.488000														240			20		0	0	1	0	0
USP25	29761	broad.mit.edu	37	21	17246839	17246839	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:17246839T>C	uc011aby.1	+	23	3220	c.3003T>C	c.(3001-3003)tgT>tgC	p.C1001C	USP25_uc002yjz.1_Silent_p.C963C|USP25_uc010gla.1_Silent_p.C326C|USP25_uc002yjy.1_Silent_p.C931C	NM_013396	NP_037528	Q9UHP3	UBP25_HUMAN	Homo sapiens ubiquitin specific peptidase 25 (USP25), mRNA.	931					protein modification process|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		GAAGAGAATGTTTGCTAGTAA	0.333000														111			10		0	0	1	0	0
RAPGEF2	9693	broad.mit.edu	37	4	160251596	160251596	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:160251596G>A	uc003iqg.4	+	6	1240	c.930G>A	c.(928-930)atG>atA	p.M310I		NM_014247	NP_055062	Q9Y4G8	RPGF2_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 2 (RAPGEF2), mRNA.	310	N-terminal Ras-GEF.				MAPKKK cascade|cAMP-mediated signaling|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|calcium ion binding|diacylglycerol binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		CTAGCCCAATGGAAGTGGGCA	0.368000														61			33		0	0	1	0	0
PLSCR1	5359	broad.mit.edu	37	3	146239443	146239443	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:146239443G>T	uc003evx.4	-	6	1014	c.626C>A	c.(625-627)aCt>aAt	p.T209N	PLSCR1_uc011bnn.2_Missense_Mutation_p.T128N|PLSCR1_uc003evz.4_Intron	NM_021105	NP_066928	O15162	PLS1_HUMAN	Homo sapiens phospholipid scramblase 1 (PLSCR1), mRNA.	209					phospholipid scrambling|platelet activation|response to virus	integral to membrane|plasma membrane	SH3 domain binding|calcium ion binding|phospholipid scramblase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15						TGGGTGCCAAGTCTGAATAAC	0.358000														32			32		4.31634e-10	5.19187e-10	1	1	0
LGR4	55366	broad.mit.edu	37	11	27390580	27390580	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:27390580A>C	uc001mrj.4	-	17	2175	c.1690T>G	c.(1690-1692)Ttt>Gtt	p.F564V	LGR4_uc001mrk.4_Missense_Mutation_p.F540V	NM_018490	NP_060960	Q9BXB1	LGR4_HUMAN	Homo sapiens leucine-rich repeat containing G protein-coupled receptor 4 (LGR4), mRNA.	564						integral to membrane|plasma membrane	protein-hormone receptor activity			NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						CAAGATGCAAATGTTGTTAAA	0.368000														46			33		0	0	1	0	0
CELA2B	51032	broad.mit.edu	37	1	15802639	15802639	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:15802639C>T	uc001awl.3	+	0	44	c.19C>T	c.(19-21)Ctg>Ttg	p.L7L		NM_015849	NP_056933	P08218	CEL2B_HUMAN	Homo sapiens chymotrypsin-like elastase family, member 2B (CELA2B), mRNA.	7					proteolysis	extracellular region	serine-type endopeptidase activity	p.L6L(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)	8						GACCCTGCTGCTGTCCACTTT	0.547000														30			20		0	0	1	0	0
TTC16	158248	broad.mit.edu	37	9	130493461	130493461	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:130493461G>A	uc004brq.1	+	13	2466	c.2399G>A	c.(2398-2400)cGa>cAa	p.R800Q	TTC16_uc011mai.1_Missense_Mutation_p.R787Q|TTC16_uc004brr.1_3'UTR|TTC16_uc010mxn.1_Missense_Mutation_p.R396Q	NM_144965	NP_659402	Q8NEE8	TTC16_HUMAN	Homo sapiens tetratricopeptide repeat domain 16 (TTC16), mRNA.	800							binding			central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						GGACTGCTCCGAAGTTCCACC	0.602000														25			4		0	0	1	0	0
HAUS1	115106	broad.mit.edu	37	18	43698240	43698240	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:43698240A>G	uc002lbu.3	+	2	379	c.299A>G	c.(298-300)gAc>gGc	p.D100G	HAUS1_uc002lbv.3_Missense_Mutation_p.D24G	NM_138443	NP_612452	Q96CS2	HAUS1_HUMAN	Homo sapiens HAUS augmin-like complex, subunit 1 (HAUS1), transcript variant 1, mRNA.	100					cell division|centrosome organization|mitosis|spindle assembly	HAUS complex|centrosome|microtubule|spindle pole				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	7						GCTTTGGTTGACAGTGCGGTG	0.423000														60			49		0	0	1	0	0
HFE	3077	broad.mit.edu	37	6	26091280	26091280	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:26091280C>T	uc003nfx.1	+	1	448	c.288C>T	c.(286-288)caC>caT	p.H96H	HFE_uc003nfy.1_Silent_p.H73H|HFE_uc010jqe.1_Silent_p.H96H|HFE_uc003nfz.1_Intron|HFE_uc003ngd.1_Intron|HFE_uc003nga.1_Silent_p.H96H|HFE_uc003ngb.1_Silent_p.H96H|HFE_uc003ngc.1_Silent_p.H96H|HFE_uc003nge.1_Intron|HFE_uc003ngf.1_Intron|HFE_uc021yms.1_5'Flank	NM_000410	NP_000401	Q30201	HFE_HUMAN	Homo sapiens hemochromatosis (HFE), transcript variant 1, mRNA.	96	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I|cellular iron ion homeostasis|immune response|iron ion transport|protein complex assembly|receptor-mediated endocytosis	MHC class I protein complex|apical part of cell|basal part of cell|cytoplasmic vesicle|early endosome|integral to plasma membrane|perinuclear region of cytoplasm|recycling endosome	protein binding			endometrium(3)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GGTGGGATCACATGTTCACTG	0.507000									Hemochromatosis					60			7		0	0	1	0	0
LMO7	4008	broad.mit.edu	37	13	76416016	76416016	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:76416016C>T	uc021rkq.1	+	23	4263	c.3928C>T	c.(3928-3930)Cgg>Tgg	p.R1310W	LMO7_uc010thv.2_Missense_Mutation_p.R1028W|LMO7_uc001vjt.1_Missense_Mutation_p.R976W|LMO7_uc001vjv.3_Missense_Mutation_p.R1077W|LMO7_uc010thw.2_Missense_Mutation_p.R954W|LMO7_uc001vjw.1_Missense_Mutation_p.R983W	NM_005358	NP_005349	Q8WWI1	LMO7_HUMAN	Homo sapiens LIM domain 7 (LMO7), transcript variant 1, mRNA.	1362						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		AGAGCAAAAGCGGCTTCAGGC	0.522000														34			20		0	0	1	0	0
AKR1C2	1646	broad.mit.edu	37	10	5043827	5043827	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:5043827G>A	uc001ihs.3	-	3	544	c.131C>T	c.(130-132)gCc>gTc	p.A44V	AKR1C3_uc001ihr.3_Intron|AKR1C2_uc009xhy.3_Missense_Mutation_p.A44V|AKR1C2_uc001iht.3_Missense_Mutation_p.A44V|AKR1C2_uc010qao.2_Missense_Mutation_p.A44V	NM_001354	NP_001345	P52895	AK1C2_HUMAN	Homo sapiens aldo-keto reductase family 1, member C2 (dihydrodiol dehydrogenase 2; bile acid binding protein; 3-alpha hydroxysteroid dehydrogenase, type III) (AKR1C2), transcript variant 1, mRNA.	44					digestion|prostaglandin metabolic process|steroid metabolic process	cytoplasm	androsterone dehydrogenase (A-specific) activity|bile acid binding|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity	p.E43*(1)		breast(1)|large_intestine(5)|lung(3)|skin(1)	10					NADH(DB00157)|Ursodeoxycholic acid(DB01586)	GTGGAACCCGGCTTCTATTGC	0.448000														58			36		0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	17151674	17151674	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:17151674C>T	uc001ioo.3	-	9	1128	c.1076G>A	c.(1075-1077)gGc>gAc	p.G359D		NM_001081	NP_001072	O60494	CUBN_HUMAN	Homo sapiens cubilin (intrinsic factor-cobalamin receptor) (CUBN), mRNA.	359	EGF-like 5.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TGGGTGGCAGCCTCCATTACT	0.458000														27			10		0	0	1	0	0
FSTL1	11167	broad.mit.edu	37	3	120121677	120121677	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:120121677G>A	uc003eds.3	-	8	958	c.783C>T	c.(781-783)gtC>gtT	p.V261V	FSTL1_uc011bjh.2_Silent_p.V226V	NM_007085	NP_009016	Q12841	FSTL1_HUMAN	Homo sapiens follistatin-like 1 (FSTL1), mRNA.	261	VWFC.				BMP signaling pathway	extracellular space	calcium ion binding|heparin binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(1)	20				GBM - Glioblastoma multiforme(114;0.189)		TGGCTGTACAGACCCAATTTC	0.522000														60			24		0	0	1	0	0
VHLL	391104	broad.mit.edu	37	1	156268735	156268735	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:156268735C>T	uc001fok.3	-	0	694	c.246G>A	c.(244-246)acG>acA	p.T82T		NM_001004319	NP_001004319	Q6RSH7	VHLL_HUMAN	Homo sapiens von Hippel-Lindau tumor suppressor-like (VHLL), mRNA.	82	Beta-domain.				protein ubiquitination	nucleus				endometrium(1)|lung(2)|ovary(1)	4	Hepatocellular(266;0.158)					CGGGCAGCAGCGTCAGGTAGG	0.557000														28			38		0	0	1	0	0
ASAP2	8853	broad.mit.edu	37	2	9475264	9475264	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:9475264C>T	uc002qzh.2	+	8	1145	c.805C>T	c.(805-807)Ctt>Ttt	p.L269F	ASAP2_uc002qzi.2_Missense_Mutation_p.L269F	NM_003887	NP_003878	O43150	ASAP2_HUMAN	Homo sapiens ArfGAP with SH3 domain, ankyrin repeat and PH domain 2 (ASAP2), transcript variant 1, mRNA.	269					regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						GTTGATACAGCTTCGAGATAT	0.403000														37			22		0	0	1	0	0
FITM1	161247	broad.mit.edu	37	14	24600812	24600812	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:24600812G>A	uc001wmf.2	+	0	138	c.40G>A	c.(40-42)Ggg>Agg	p.G14R		NM_203402	NP_981947	A5D6W6	FITM1_HUMAN	Homo sapiens fat storage-inducing transmembrane protein 1 (FITM1), mRNA.	14					lipid particle organization|positive regulation of sequestering of triglyceride	endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	11						actgggggccggggcCCGAAT	0.677000														5			3		0	0	1	0	0
ATP1B2	482	broad.mit.edu	37	17	7558002	7558002	+	Splice_Site	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7558002G>T	uc002gif.1	+	5	1192	c.609_splice	c.e5+1	p.K203_splice		NM_001678	NP_001669	P14415	AT1B2_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, beta 2 polypeptide (ATP1B2), mRNA.	203					ATP biosynthetic process|blood coagulation|leukocyte migration	integral to membrane|plasma membrane	protein binding|sodium:potassium-exchanging ATPase activity	p.0?(2)|p.?(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|pancreas(1)	10		all_cancers(10;0.000178)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;2.55e-06)|READ - Rectum adenocarcinoma(115;0.168)		GTGCTGGGAAGGTGAGTTCGT	0.502000														75			28		1.13719e-10	1.37759e-10	1	1	0
DENND5A	23258	broad.mit.edu	37	11	9225588	9225588	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:9225588G>A	uc001mhl.3	-	3	825	c.568C>T	c.(568-570)Cgc>Tgc	p.R190C	DENND5A_uc010rbw.2_Missense_Mutation_p.R190C|DENND5A_uc010rbx.2_Non-coding_Transcript	NM_015213	NP_056028	Q6IQ26	DEN5A_HUMAN	Homo sapiens DENN/MADD domain containing 5A (DENND5A), transcript variant 1, mRNA.	190										breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GAGTTGAAGCGCTGCAGTTTG	0.522000														35			18		0	0	1	0	0
NRP2	8828	broad.mit.edu	37	2	206614470	206614470	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:206614470C>T	uc002vaw.3	+	10	2599	c.1808C>T	c.(1807-1809)aCg>aTg	p.T603M	NRP2_uc002vau.3_Missense_Mutation_p.T603M|NRP2_uc002vav.3_Missense_Mutation_p.T603M|NRP2_uc002vax.3_Missense_Mutation_p.T603M|NRP2_uc002vay.3_Missense_Mutation_p.T603M	NM_201266	NP_957718	O60462	NRP2_HUMAN	Homo sapiens neuropilin 2 (NRP2), transcript variant 1, mRNA.	603					angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity	p.T603M(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						ACGGTAGAGACGCTGGGACCC	0.552000														21			18		0	0	1	0	0
RAPGEF6	51735	broad.mit.edu	37	5	130815437	130815437	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:130815437T>C	uc003kvn.2	-	15	2056	c.1850A>G	c.(1849-1851)gAg>gGg	p.E617G	RAPGEF6_uc003kvp.2_Missense_Mutation_p.E667G|RAPGEF6_uc003kvo.2_Missense_Mutation_p.E617G|RAPGEF6_uc010jdi.2_Missense_Mutation_p.E617G|RAPGEF6_uc010jdj.2_Missense_Mutation_p.E617G|RAPGEF6_uc003kvq.3_Missense_Mutation_p.E334G|RAPGEF6_uc011cxe.2_Non-coding_Transcript|RAPGEF6_uc003kvr.3_Missense_Mutation_p.E617G|RAPGEF6_uc010jdk.3_Missense_Mutation_p.E617G	NM_016340	NP_057424	Q8TEU7	RPGF6_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 6 (RAPGEF6), transcript variant 2, mRNA.	617					Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|Ras GTPase binding|guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		AAAAAGTAACTCTTTGAACAC	0.328000														69			8		0	0	1	0	0
AVPR2	554	broad.mit.edu	37	X	153171772	153171772	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153171772G>T	uc004fjh.4	+	1	984	c.812G>T	c.(811-813)aGg>aTg	p.R271M	AVPR2_uc004fjg.4_Missense_Mutation_p.R60M|AVPR2_uc004fji.3_Missense_Mutation_p.R271M	NM_000054	NP_000045	P30518	V2R_HUMAN	Homo sapiens arginine vasopressin receptor 2 (AVPR2), transcript variant 1, mRNA.	271					G-protein signaling, coupled to cAMP nucleotide second messenger|activation of adenylate cyclase activity|excretion|hemostasis|positive regulation of gene expression|transmembrane transport|water transport	Golgi apparatus|endoplasmic reticulum|endosome|integral to plasma membrane	vasopressin receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	26	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Conivaptan(DB00872)|Terlipressin(DB02638)|Vasopressin(DB00067)	AAGACTGTGAGGATGACGCTA	0.672000														46			36		4.92203e-23	6.40486e-23	1	1	0
SENP2	59343	broad.mit.edu	37	3	185304249	185304249	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:185304249C>T	uc003fpn.3	+	0	219	c.48C>T	c.(46-48)tgC>tgT	p.C16C	SENP2_uc011brv.2_Intron|SENP2_uc011brw.2_5'UTR	NM_021627	NP_067640	Q9HC62	SENP2_HUMAN	Homo sapiens SUMO1/sentrin/SMT3 specific peptidase 2 (SENP2), mRNA.	16					Wnt receptor signaling pathway|mRNA transport|protein desumoylation|protein transport|proteolysis|regulation of Wnt receptor signaling pathway|transmembrane transport	cytoplasm|nuclear membrane|nuclear pore	SUMO-specific protease activity|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(3)	12	all_cancers(143;1.28e-10)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			TCCGTTTCTGCGACCGGTCGG	0.667000														129			15		0	0	1	0	0
PIGN	23556	broad.mit.edu	37	18	59777194	59777194	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:59777194G>T	uc021ulb.1	-	13	1479	c.1447C>A	c.(1447-1449)Ctc>Atc	p.L483I	PIGN_uc021ulc.1_Missense_Mutation_p.L109I|PIGN_uc021uld.1_Missense_Mutation_p.L109I	NM_176787	NP_789744	O95427	PIGN_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class N (PIGN), transcript variant 1, mRNA.	483					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphotransferase activity, for other substituted phosphate groups			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(73;0.187)				CAAGGCAGGAGATGGCTTGGT	0.338000														56			5		5.9392e-07	6.7814e-07	1	1	0
HPCAL1	3241	broad.mit.edu	37	2	10566879	10566879	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:10566879G>T	uc002raj.3	+	4	888	c.514G>T	c.(514-516)Ggt>Tgt	p.G172C	HPCAL1_uc002ral.3_Missense_Mutation_p.G172C|HPCAL1_uc010exe.3_Non-coding_Transcript|HPCAL1_uc010exf.3_Missense_Mutation_p.G172C	NM_002149	NP_602293	P37235	HPCL1_HUMAN	Homo sapiens hippocalcin-like 1 (HPCAL1), transcript variant 1, mRNA.	172	EF-hand 4.						calcium ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	9	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.214)		ATTCATCAGAGGTGCCAAGAG	0.572000														69			47		1.54043e-34	2.04066e-34	1	1	0
ZNF560	147741	broad.mit.edu	37	19	9578110	9578110	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9578110C>T	uc002mlp.1	-	9	1723	c.1513G>A	c.(1513-1515)Gct>Act	p.A505T	ZNF560_uc010dwr.1_Missense_Mutation_p.A399T	NM_152476	NP_689689	Q96MR9	ZN560_HUMAN	Homo sapiens zinc finger protein 560 (ZNF560), mRNA.	505					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						CTCAAATGAGCAAAAAGAGAT	0.408000														78			51		0	0	1	0	0
HPS5	11234	broad.mit.edu	37	11	18313021	18313021	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:18313021G>T	uc001mod.1	-	15	2686	c.2408C>A	c.(2407-2409)tCt>tAt	p.S803Y	HPS5_uc001moe.1_Missense_Mutation_p.S689Y|HPS5_uc001mof.1_Missense_Mutation_p.S689Y	NM_181507	NP_852609	Q9UPZ3	HPS5_HUMAN	Homo sapiens Hermansky-Pudlak syndrome 5 (HPS5), transcript variant 1, mRNA.	803						cytosol				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						ATCCCAAACAGAAGGGCTATT	0.348000									Hermansky-Pudlak syndrome					29			15		3.45872e-05	3.81293e-05	1	1	0
MKI67	4288	broad.mit.edu	37	10	129904331	129904331	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:129904331C>T	uc001lke.3	-	12	5968	c.5773G>A	c.(5773-5775)Gtg>Atg	p.V1925M	MKI67_uc001lkf.3_Missense_Mutation_p.V1565M|MKI67_uc009yav.1_Missense_Mutation_p.V1500M|MKI67_uc009yaw.1_Missense_Mutation_p.V1075M	NM_002417	NP_002408	P46013	KI67_HUMAN	Homo sapiens antigen identified by monoclonal antibody Ki-67 (MKI67), transcript variant 1, mRNA.	1925	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				AGTTTCTCCACTGGAGTCCCC	0.488000														138			77		0	0	1	0	0
ZC3H12D	340152	broad.mit.edu	37	6	149772540	149772540	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:149772540G>A	uc010kid.3	-	5	1133	c.863C>T	c.(862-864)gCc>gTc	p.A288V		NM_207360	NP_997243	A2A288	ZC12D_HUMAN	Homo sapiens zinc finger CCCH-type containing 12D (ZC3H12D), mRNA.	288						cytoplasm|nucleus	endonuclease activity|nucleic acid binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)	6		Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;1.23e-11)|GBM - Glioblastoma multiforme(68;0.0921)		GAGCTCGTCGGCCACCGCCAG	0.731000														11			7		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141264418	141264418	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:141264418A>G	uc002tvj.1	-	52	9440	c.8468T>C	c.(8467-8469)gTt>gCt	p.V2823A		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	2823	LDL-receptor class A 18.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATGGTCACAAACAAATTGCTT	0.393000										TSP Lung(27;0.18)				148			8		0	0	1	0	0
ARGFX	503582	broad.mit.edu	37	3	121304887	121304887	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:121304887C>T	uc003eef.3	+	4	483	c.388C>T	c.(388-390)Cga>Tga	p.R130*		NM_001012659	NP_001012677	A6NJG6	ARGFX_HUMAN	Homo sapiens arginine-fifty homeobox (ARGFX), mRNA.	130						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(114;0.152)		CAGGAACCGGCGATTCAAATT	0.522000														22			13		0	0	1	0	0
ATG16L2	89849	broad.mit.edu	37	11	72537750	72537750	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:72537750G>T	uc001otd.3	+	12	1288	c.1248G>T	c.(1246-1248)gaG>gaT	p.E416D	ATG16L2_uc001ote.3_Missense_Mutation_p.E310D|ATG16L2_uc009ytj.2_Intron	NM_033388	NP_203746	Q8NAA4	A16L2_HUMAN	Homo sapiens ATG16 autophagy related 16-like 2 (S. cerevisiae) (ATG16L2), mRNA.	416					autophagy|protein transport	cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)	14			BRCA - Breast invasive adenocarcinoma(5;2.73e-06)			GGGTACAGGAGACACTGTCTG	0.592000														74			41		3.61848e-18	4.63112e-18	1	1	0
IQGAP3	128239	broad.mit.edu	37	1	156536333	156536333	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:156536333A>G	uc001fpf.3	-	2	206	c.131T>C	c.(130-132)aTg>aCg	p.M44T	IQGAP3_uc009wsb.1_Missense_Mutation_p.M1T	NM_178229	NP_839943	Q86VI3	IQGA3_HUMAN	Homo sapiens IQ motif containing GTPase activating protein 3 (IQGAP3), mRNA.	44	CH.				small GTPase mediated signal transduction	intracellular	Ras GTPase activator activity|calmodulin binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GCAGGCCTCCATCCAGCTATG	0.547000														25			3		0	0	1	0	0
OR1D5	8386	broad.mit.edu	37	17	2966243	2966243	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:2966243C>T	uc021tns.1	-	0	659	c.659G>A	c.(658-660)cGt>cAt	p.R220H		NM_014566	NP_055381	P58170	OR1D5_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily D, member 5 (OR1D5), mRNA.	220					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|lung(10)	11						TCTGACAATACGTACATAGGA	0.493000														27			6		0	0	1	0	0
KIF3B	9371	broad.mit.edu	37	20	30904663	30904663	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:30904663G>A	uc002wxq.3	+	4	1914	c.1734G>A	c.(1732-1734)agG>agA	p.R578R	KIF3B_uc010ztw.2_Silent_p.R516R	NM_004798	NP_004789	O15066	KIF3B_HUMAN	Homo sapiens kinesin family member 3B (KIF3B), mRNA.	578					anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis	centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule	ATP binding|Rho GTPase binding|plus-end-directed microtubule motor activity			NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			AGCTCACCAGGGAGCTGAAAC	0.517000														24			10		0	0	1	0	0
ATP6AP2	10159	broad.mit.edu	37	X	40458973	40458973	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:40458973C>T	uc004det.3	+	6	820	c.718C>T	c.(718-720)Ctt>Ttt	p.L240F	ATP6AP2_uc010nhc.3_Non-coding_Transcript|ATP6AP2_uc011mkl.2_Missense_Mutation_p.L164F|ATP6AP2_uc011mkm.2_Missense_Mutation_p.L208F|ATP6AP2_uc011mkn.2_Missense_Mutation_p.L162F|ATP6AP2_uc004deu.1_Missense_Mutation_p.L105F	NM_005765	NP_005756	O75787	RENR_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal accessory protein 2 (ATP6AP2), mRNA.	240					angiotensin maturation|positive regulation of transforming growth factor-beta1 production|regulation of MAPKKK cascade	external side of plasma membrane|integral to membrane	protein binding|receptor activity			endometrium(1)|large_intestine(1)|lung(2)	4						TTCTAAGATCCTTGTTGACGC	0.398000														55			31		0	0	1	0	0
DUSP7	1849	broad.mit.edu	37	3	52088116	52088116	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52088116G>A	uc003dct.3	-	1	871	c.792C>T	c.(790-792)gaC>gaT	p.D264D	DUSP7_uc010hma.2_Silent_p.D264D	NM_001947	NP_001938	Q16829	DUS7_HUMAN	Homo sapiens dual specificity phosphatase 7 (DUSP7), mRNA.	264					MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|inactivation of MAPK activity|innate immune response|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein binding|protein tyrosine phosphatase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(193;5.14e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		TGCCGAGCACGTCCAGGTTGG	0.592000														65			47		0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57602907	57602907	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57602907G>T	uc001snd.3	+	78	12653	c.12187G>T	c.(12187-12189)Gac>Tac	p.D4063Y		NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	4063					aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GTACTGGGCAGACGCCAAGCT	0.607000														28			6		0.0293803	0.0299714	1	1	0
LPCAT2	54947	broad.mit.edu	37	16	55566747	55566747	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:55566747C>T	uc002eie.4	+	5	896	c.715C>T	c.(715-717)Cca>Tca	p.P239S	LPCAT2_uc002eic.3_5'UTR	NM_017839	NP_060309	Q7L5N7	PCAT2_HUMAN	Homo sapiens lysophosphatidylcholine acyltransferase 2 (LPCAT2), mRNA.	239					cellular membrane organization|platelet activating factor biosynthetic process	Golgi membrane|Golgi stack|endoplasmic reticulum membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	12						AGCCTTCATTCCAGGAGTTCC	0.353000														27			10		0	0	1	0	0
CACNA1S	779	broad.mit.edu	37	1	201018173	201018173	+	Silent	SNP	A	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:201018173A>T	uc001gvv.3	-	34	4523	c.4296T>A	c.(4294-4296)ccT>ccA	p.P1432P		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA.	1432					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	p.P1432P(2)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	CAAAGCCCAGAGGGGGCTGAA	0.597000														12			8		0	0	1	0	0
TMEM38B	55151	broad.mit.edu	37	9	108483913	108483913	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:108483913G>A	uc004bcu.1	+	2	482	c.365G>A	c.(364-366)aGa>aAa	p.R122K	TMEM38B_uc010mtn.1_Intron	NM_018112	NP_060582	Q9NVV0	TM38B_HUMAN	Homo sapiens transmembrane protein 38B (TMEM38B), mRNA.	122						integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity			kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	13						GAAGTGACCAGAACTTGGAAA	0.418000														43			20		0	0	1	0	0
PLCH1	23007	broad.mit.edu	37	3	155199620	155199620	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:155199620C>T	uc021xge.1	-	22	4496	c.4219G>A	c.(4219-4221)Ggc>Agc	p.G1407S	PLCH1_uc021xgd.1_3'UTR|PLCH1_uc021xgf.1_Missense_Mutation_p.G1369S	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Homo sapiens phospholipase C, eta 1 (PLCH1), transcript variant 1, mRNA.	1407					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TTACAGTAGCCGTTTCTCAAA	0.413000														98			9		0	0	1	0	0
C1orf129	80133	broad.mit.edu	37	1	170964535	170964535	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:170964535C>T	uc010plz.2	+	12	1354	c.1200C>T	c.(1198-1200)tgC>tgT	p.C400C	C1orf129_uc001ghg.3_Silent_p.C400C|C1orf129_uc009wvy.3_Silent_p.C207C	NM_001163629	NP_001157101	Q5TGP6	CA129_HUMAN	Homo sapiens chromosome 1 open reading frame 129 (C1orf129), transcript variant 1, mRNA.	400							binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(16)|pancreas(1)|prostate(1)|skin(3)	45	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TATAGGCATGCCAGGCCCTGT	0.493000														99			9		0	0	1	0	0
SLC2A1	6513	broad.mit.edu	37	1	43396878	43396878	+	Splice_Site	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:43396878C>A	uc001cik.2	-	3	640	c.115_splice	c.e3-1	p.V39_splice		NM_006516	NP_006507	P11166	GTR1_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 1 (SLC2A1), mRNA.	39					carbohydrate metabolic process|energy reserve metabolic process|regulation of insulin secretion|water-soluble vitamin metabolic process	integral to membrane|melanosome|membrane fraction|midbody	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|pancreas(2)	13	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)			Etomidate(DB00292)	CCTCGATCACCTGCAGGGGGA	0.622000											OREG0013425	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		23			4		0.150653	0.152248	1	1	0
IRF7	3665	broad.mit.edu	37	11	612999	612999	+	Splice_Site	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:612999C>A	uc001lqg.3	-	8	1805	c.1395_splice	c.e8+1	p.K465_splice	IRF7_uc009ycb.3_Splice_Site_p.K346_splice|IRF7_uc010qwf.2_Splice_Site_p.K451_splice|IRF7_uc001lqf.3_Splice_Site_p.K159_splice|IRF7_uc010qwg.2_Splice_Site_p.K159_splice|IRF7_uc001lqh.3_Splice_Site_p.K452_splice|IRF7_uc001lqi.3_Splice_Site_p.K423_splice|IRF7_uc010qwh.2_Splice_Site_p.K159_splice	NM_004031	NP_004022	Q92985	IRF7_HUMAN	Homo sapiens interferon regulatory factor 7 (IRF7), transcript variant d, mRNA.	452					MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of interferon-alpha production|positive regulation of transcription from RNA polymerase II promoter|response to virus|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|endosome membrane|nucleoplasm|plasma membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;7.68e-28)|Epithelial(43;7.44e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;6.96e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CTGGTCTCACCTTCACCAGGA	0.652000														80			11		0.000673444	0.000715966	1	1	0
DDX43	55510	broad.mit.edu	37	6	74104764	74104764	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:74104764G>A	uc003pgw.3	+	0	480	c.136G>A	c.(136-138)Ggc>Agc	p.G46S	OOEP_uc003pgv.4_5'UTR|DDX43_uc011dyn.1_Non-coding_Transcript	NM_018665	NP_061135	Q9NXZ2	DDX43_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 43 (DDX43), mRNA.	46						intracellular	ATP binding|ATP-dependent RNA helicase activity|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						ATATAGTGTCGGCAGAGGTGG	0.622000											OREG0003900	type=REGULATORY REGION|Gene=BC024931|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		45			26		0	0	1	0	0
EYA2	2139	broad.mit.edu	37	20	45809567	45809567	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:45809567A>G	uc002xsm.3	+	13	1792	c.1418A>G	c.(1417-1419)tAc>tGc	p.Y473C	EYA2_uc010ghp.3_Intron|EYA2_uc002xsq.3_Missense_Mutation_p.Y443C	NM_005244	NP_005235	O00167	EYA2_HUMAN	Homo sapiens eyes absent homolog 2 (Drosophila) (EYA2), transcript variant 1, mRNA.	473					DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				GAGAACATCTACAGTGCAACC	0.527000														11			20		0	0	1	0	0
CNTN1	1272	broad.mit.edu	37	12	41419010	41419010	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:41419010G>A	uc001rmm.1	+	20	2695	c.2582G>A	c.(2581-2583)aGc>aAc	p.S861N	CNTN1_uc001rmn.1_Missense_Mutation_p.S850N	NM_001843	NP_001834	Q12860	CNTN1_HUMAN	Homo sapiens contactin 1 (CNTN1), transcript variant 1, mRNA.	861	Fibronectin type-III 3.				Notch signaling pathway|axon guidance|cell adhesion	anchored to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				CAAGTCACCAGCCAAGAGTAC	0.483000														179			49		0	0	1	0	0
LANCL2	55915	broad.mit.edu	37	7	55466181	55466181	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:55466181C>A	uc003tqp.3	+	2	966	c.388C>A	c.(388-390)Ctg>Atg	p.L130M		NM_018697	NP_061167	Q9NS86	LANC2_HUMAN	Homo sapiens LanC lantibiotic synthetase component C-like 2 (bacterial) (LANCL2), mRNA.	130					negative regulation of transcription, DNA-dependent|positive regulation of abscisic acid mediated signaling pathway	cortical actin cytoskeleton|cytosol|nucleus|plasma membrane	ATP binding|GTP binding|catalytic activity|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	25	Breast(14;0.0379)		Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00128)|Epithelial(13;0.0706)			GCTCCGATCCCTGGATTACGT	0.502000														64			6		8.12818e-05	8.84769e-05	1	1	0
NUBP2	10101	broad.mit.edu	37	16	1837967	1837967	+	Missense_Mutation	SNP	G	A	A	rs143322275	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:1837967G>A	uc002cmw.4	+	4	604	c.515G>A	c.(514-516)cGc>cAc	p.R172H	NUBP2_uc002cmx.4_Missense_Mutation_p.R31H	NM_012225	NP_036357	Q9Y5Y2	NUBP2_HUMAN	Homo sapiens nucleotide binding protein 2 (NUBP2), mRNA.	172						microtubule organizing center|nucleus	4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6						GACGTGAGGCGCGAGCTGACC	0.682000														39			30		0	0	1	0	0
SLCO2B1	11309	broad.mit.edu	37	11	74904424	74904424	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:74904424A>G	uc001owb.3	+	8	1632	c.1237A>G	c.(1237-1239)Atc>Gtc	p.I413V	SLCO2B1_uc010rrq.2_Missense_Mutation_p.I158V|SLCO2B1_uc010rrr.2_Missense_Mutation_p.I269V|SLCO2B1_uc010rrs.2_Missense_Mutation_p.I297V|SLCO2B1_uc001owc.3_Missense_Mutation_p.I186V|SLCO2B1_uc001owd.3_Missense_Mutation_p.I391V	NM_007256	NP_001138683	O94956	SO2B1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 2B1 (SLCO2B1), transcript variant 1, mRNA.	413					sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Ergoloid mesylate(DB01049)	CAACCTGCTCATCGGCTGCCT	0.627000														37			9		0	0	1	0	0
SHROOM2	357	broad.mit.edu	37	X	9912767	9912767	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:9912767C>T	uc004csu.1	+	8	4488	c.4398C>T	c.(4396-4398)acC>acT	p.T1466T	SHROOM2_uc004csv.2_Silent_p.T300T|SHROOM2_uc011mic.1_Silent_p.T301T|SHROOM2_uc004csw.1_Silent_p.T301T	NM_001649	NP_001640	Q13796	SHRM2_HUMAN	Homo sapiens shroom family member 2 (SHROOM2), mRNA.	1466	ASD2.				apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				AGGCCAACACCGTGCTGGGGG	0.632000														29			3		0	0	1	0	0
TRDN	10345	broad.mit.edu	37	6	123673693	123673693	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:123673693C>T	uc003pzj.2	-	20	1678	c.1360G>A	c.(1360-1362)Gtg>Atg	p.V454M	TRDN_uc003pzk.2_Missense_Mutation_p.V455M|TRDN_uc010kem.2_5'UTR	NM_006073	NP_006064	Q13061	TRDN_HUMAN	Homo sapiens triadin (TRDN), transcript variant 1, mRNA.	454					muscle contraction	integral to membrane|plasma membrane|sarcoplasmic reticulum membrane	receptor binding	p.V454E(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41				GBM - Glioblastoma multiforme(226;0.184)		CCTTGCTCCACTGTCTTGGTT	0.398000														36			4		0	0	1	0	0
UBD	10537	broad.mit.edu	37	6	29523970	29523970	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:29523970C>T	uc003nmo.3	-	1	409	c.185G>A	c.(184-186)aGc>aAc	p.S62N	GABBR1_uc003nmp.4_3'UTR	NM_006398	NP_006389	O15205	UBD_HUMAN	Homo sapiens ubiquitin D (UBD), mRNA.	62	Ubiquitin 1.				aggresome assembly|myeloid dendritic cell differentiation|negative regulation of mitotic prometaphase|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of apoptosis|protein ubiquitination|response to interferon-gamma|response to tumor necrosis factor|ubiquitin-dependent protein catabolic process	aggresome|cytoplasm|nucleus	proteasome binding			kidney(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6						AGATGAGAGGCTTCTCCGTGG	0.483000														23			18		0	0	1	0	0
NF1	4763	broad.mit.edu	37	17	29508800	29508800	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:29508800G>A	uc002hgg.3	+	6	1110	c.727G>A	c.(727-729)Gct>Act	p.A243T	NF1_uc002hge.2_Missense_Mutation_p.A243T|NF1_uc002hgf.2_Missense_Mutation_p.A243T|NF1_uc002hgh.3_Missense_Mutation_p.A243T|NF1_uc010csn.2_Missense_Mutation_p.A103T	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	243					MAPKKK cascade|Ras protein signal transduction|actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	Ras GTPase activator activity|protein binding	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GACTGATATGGCTGGTAAGGA	0.308000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				48			18		0	0	1	0	0
ARHGAP35	2909	broad.mit.edu	37	19	47423806	47423806	+	Missense_Mutation	SNP	A	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:47423806A>T	uc010ekv.3	+	0	1874	c.1874A>T	c.(1873-1875)aAg>aTg	p.K625M		NM_004491	NP_004482	Q9NRY4	RHG35_HUMAN	Homo sapiens Rho GTPase activating protein 35 (ARHGAP35), mRNA.	625					axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity										AATGATGACAAGTATGTGATA	0.453000														140			8		0	0	1	0	0
C2orf44	80304	broad.mit.edu	37	2	24262192	24262192	+	Missense_Mutation	SNP	T	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:24262192T>A	uc002rep.2	-	1	304	c.173A>T	c.(172-174)gAa>gTa	p.E58V	C2orf44_uc010eya.2_Missense_Mutation_p.E58V	NM_025203	NP_079479	Q9H6R7	CB044_HUMAN	Homo sapiens chromosome 2 open reading frame 44 (C2orf44), transcript variant 1, mRNA.	58							protein binding		C2orf44/ALK(2)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACAGACACATTCAAACTGTCC	0.522000			T	ALK	NSCLC									43			17		0	0	1	0	0
GRIP1	23426	broad.mit.edu	37	12	66859167	66859167	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:66859167C>T	uc001stk.3	-	7	1001	c.760G>A	c.(760-762)Gaa>Aaa	p.E254K	GRIP1_uc010sta.1_Missense_Mutation_p.E198K|GRIP1_uc001stj.3_5'UTR|GRIP1_uc001stm.3_Missense_Mutation_p.E254K|GRIP1_uc001stl.1_Missense_Mutation_p.E198K	NM_021150	NP_066973	Q9Y3R0	GRIP1_HUMAN	Homo sapiens glutamate receptor interacting protein 1 (GRIP1), transcript variant 1, mRNA.	254	PDZ 3.				androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		TTGGCAACTTCGACTAGTAGT	0.408000														45			24		0	0	1	0	0
MLL	4297	broad.mit.edu	37	11	118352537	118352537	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:118352537G>A	uc001pta.3	+	6	3765	c.3742G>A	c.(3742-3744)Gca>Aca	p.A1248T	MLL_uc001ptb.3_Missense_Mutation_p.A1248T|MLL_uc001pte.1_Non-coding_Transcript|MLL_uc009zab.1_5'UTR	NM_005933	NP_005924	Q03164	MLL1_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) (MLL), transcript variant 2, mRNA.	1248					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			breast(5)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(29)|lung(34)|ovary(6)|pancreas(3)|prostate(8)|skin(6)|urinary_tract(19)	131	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		TACCCCATCAGCAAGAGAGGA	0.498000			"""T, O"""	"""MLL, MLLT1, MLLT2, MLLT3, MLLT4, MLLT7, MLLT10, MLLT6, ELL, EPS15, AF1Q, CREBBP, SH3GL1, FNBP1, PNUTL1, MSF, GPHN, GMPS, SSH3BP1, ARHGEF12, GAS7, FOXO3A, LAF4, LCX, SEPT6, LPP, CBFA2T1, GRAF, EP300, PICALM, HEAB"""	"""AML, ALL"""									59			5		0	0	1	0	0
ATE1	11101	broad.mit.edu	37	10	123658451	123658451	+	Nonsense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:123658451C>A	uc001lfp.3	-	6	929	c.847G>T	c.(847-849)Gag>Tag	p.E283*	ATE1_uc001lfq.3_Intron|ATE1_uc010qtr.2_Intron|ATE1_uc010qts.2_Nonsense_Mutation_p.E187*|ATE1_uc010qtt.2_Nonsense_Mutation_p.E276*|ATE1_uc001lfr.3_Intron|ATE1_uc009xzu.3_Intron	NM_007041	NP_008972	O95260	ATE1_HUMAN	Homo sapiens arginyltransferase 1 (ATE1), transcript variant 2, mRNA.	283					protein arginylation	cytoplasm|nucleus	acyltransferase activity|arginyltransferase activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212)				GACTTGAACTCTGGGTCCTCA	0.438000														50			9		7.48243e-07	8.52591e-07	1	1	0
ALG8	79053	broad.mit.edu	37	11	77825382	77825382	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:77825382G>T	uc001oza.1	-	5	668	c.603C>A	c.(601-603)atC>atA	p.I201I	ALG8_uc001oyz.1_Silent_p.I201I|ALG8_uc009yuy.1_Non-coding_Transcript	NM_024079	NP_076984	Q9BVK2	ALG8_HUMAN	Homo sapiens asparagine-linked glycosylation 8, alpha-1,3-glucosyltransferase homolog (S. cerevisiae) (ALG8), transcript variant 1, mRNA.	201					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	alpha-1,3-mannosyltransferase activity|dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			NS(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	30	all_cancers(14;3.62e-19)|all_epithelial(13;1.27e-21)|Breast(9;8.51e-17)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;9.66e-25)			CATAGAGGTAGATATGCTTGA	0.363000														41			14		6.31663e-08	7.34157e-08	1	1	0
ARF1	375	broad.mit.edu	37	1	228285651	228285651	+	Silent	SNP	C	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:228285651C>G	uc001hrs.3	+	4	626	c.483C>G	c.(481-483)acC>acG	p.T161T	ARF1_uc001hrr.3_Silent_p.T161T|ARF1_uc001hru.3_Silent_p.T161T|ARF1_uc001hrv.3_Silent_p.T161T	NM_001658	NP_001649	P84077	ARF1_HUMAN	Homo sapiens ADP-ribosylation factor 1 (ARF1), transcript variant 4, mRNA.	161					COPI coating of Golgi vesicle|cellular copper ion homeostasis|post-Golgi vesicle-mediated transport|protein transport|regulation of defense response to virus by virus|retrograde vesicle-mediated transport, Golgi to ER|small GTPase mediated signal transduction|viral reproduction	Golgi membrane|cytosol|perinuclear region of cytoplasm|plasma membrane	GTP binding|GTPase activity|protein binding|receptor signaling protein activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)	10		Prostate(94;0.0405)				CCTGCGCCACCAGCGGCGACG	0.617000														22			13		0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240370352	240370352	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:240370352C>A	uc010pye.2	+	5	2477	c.2252C>A	c.(2251-2253)tCc>tAc	p.S751Y	FMN2_uc010pyd.2_Missense_Mutation_p.S747Y	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	747					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			ATACAGACTTCCCCCACGGAA	0.572000														21			6		0.00116845	0.00123466	1	1	0
LRSAM1	90678	broad.mit.edu	37	9	130259537	130259537	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:130259537C>T	uc004brb.2	+	23	2208	c.1836C>T	c.(1834-1836)ggC>ggT	p.G612G	LRSAM1_uc010mxk.2_Silent_p.G585G|LRSAM1_uc004brc.2_Silent_p.G612G|LRSAM1_uc004brd.2_Silent_p.G612G|LRSAM1_uc004bre.2_Silent_p.G192G|AX747547_uc004brf.1_5'Flank|LRSAM1_uc004brg.2_Silent_p.G43G	NM_001005373	NP_612370	Q6UWE0	LRSM1_HUMAN	Homo sapiens leucine rich repeat and sterile alpha motif containing 1 (LRSAM1), transcript variant 2, mRNA.	612	SAM.				negative regulation of endocytosis|non-lytic virus budding|protein autoubiquitination|protein catabolic process|protein polyubiquitination|protein transport|ubiquitin-dependent endocytosis	cytoplasm|extracellular region|membrane part	hormone activity|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(2)	16						CACAGGTGGGCGTCTCAGAAG	0.622000														28			14		0	0	1	0	0
RAB25	57111	broad.mit.edu	37	1	156038068	156038068	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:156038068C>T	uc001fnc.3	+	2	473	c.247C>T	c.(247-249)Cgt>Tgt	p.R83C		NM_020387	NP_065120	P57735	RAB25_HUMAN	Homo sapiens RAB25, member RAS oncogene family (RAB25), mRNA.	83					positive regulation of cell proliferation|protein transport|pseudopodium organization|small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle|pseudopodium membrane	GTP binding|identical protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5	Hepatocellular(266;0.158)|all_neural(408;0.195)					CAGGTACTATCGTGGTGCAGT	0.562000														100			51		0	0	1	0	0
OR11H4	390442	broad.mit.edu	37	14	20711921	20711921	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:20711921C>T	uc010tld.2	+	0	971	c.971C>T	c.(970-972)tCg>tTg	p.S324L		NM_001004479	NP_001004479	Q8NGC9	O11H4_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily H, member 4 (OR11H4), mRNA.	324					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	29	all_cancers(95;0.000888)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0146)		CGTCAAAATTCGTGAGCCAAA	0.398000														45			27		0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10934119	10934119	+	Splice_Site	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:10934119A>G	uc002yip.1	-	16	1225	c.857_splice	c.e16-1	p.S286_splice	TPTE_uc002yis.1_Splice_Site|TPTE_uc002yiq.1_Splice_Site_p.S268_splice|TPTE_uc002yir.1_Splice_Site_p.S248_splice|TPTE_uc010gkv.1_Splice_Site_p.S148_splice	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	286	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AAGCTCTTTCACCTAAAATAA	0.303000														180			9		0	0	1	0	0
C3orf15	89876	broad.mit.edu	37	3	119462955	119462955	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:119462955G>A	uc003ede.4	+	13	1891	c.1814G>A	c.(1813-1815)cGc>cAc	p.R605H	C3orf15_uc010hqz.3_Missense_Mutation_p.R543H|C3orf15_uc011bjd.2_Missense_Mutation_p.R479H|C3orf15_uc011bje.2_Missense_Mutation_p.R585H	NM_033364	NP_203528	Q7Z4T9	AAT1_HUMAN	Homo sapiens chromosome 3 open reading frame 15 (C3orf15), mRNA.	441						mitochondrion	protein binding	p.R605C(1)		NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.186)		CTGGCTGAGCGCCAGCGGCGG	0.582000														35			27		0	0	1	0	0
SH3PXD2A	9644	broad.mit.edu	37	10	105361942	105361942	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:105361942G>A	uc010qqu.1	-	11	2845	c.2778C>T	c.(2776-2778)ggC>ggT	p.G926G	SH3PXD2A_uc010qqr.2_Intron|SH3PXD2A_uc010qqs.1_Silent_p.G818G|SH3PXD2A_uc010qqt.1_Silent_p.G860G|SH3PXD2A_uc009xxn.1_Silent_p.G818G|SH3PXD2A_uc001kxj.1_Silent_p.G983G	NM_014631	NP_055446	Q5TCZ1	SPD2A_HUMAN	Homo sapiens SH3 and PX domains 2A (SH3PXD2A), mRNA.	1011					cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		TCCGTCGGACGCCTCGGAGGC	0.677000														38			19		0	0	1	0	0
ANKMY2	57037	broad.mit.edu	37	7	16650315	16650315	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:16650315T>C	uc003sti.3	-	5	849	c.605A>G	c.(604-606)gAt>gGt	p.D202G	ANKMY2_uc010ktz.3_Non-coding_Transcript	NM_020319	NP_064715	Q8IV38	ANKY2_HUMAN	Homo sapiens ankyrin repeat and MYND domain containing 2 (ANKMY2), mRNA.	202						cilium	zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	23	Lung NSC(10;0.103)|all_lung(11;0.204)			UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		ACAAATCAAATCCATCACTCT	0.383000														118			10		0	0	1	0	0
SCNN1B	6338	broad.mit.edu	37	16	23379247	23379247	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:23379247G>A	uc002dln.3	+	4	1023	c.847G>A	c.(847-849)Gca>Aca	p.A283T		NM_000336	NP_000327	P51168	SCNNB_HUMAN	Homo sapiens sodium channel, nonvoltage-gated 1, beta (SCNN1B), mRNA.	283					excretion|sensory perception of taste	apical plasma membrane	WW domain binding|ligand-gated sodium channel activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	GACAGAGAAGGCACTTCCTTC	0.507000														84			46		0	0	1	0	0
U2AF1	7307	broad.mit.edu	37	21	44524474	44524474	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:44524474C>T	uc002zdb.1	-	1	167	c.83G>A	c.(82-84)cGt>cAt	p.R28H	U2AF1_uc002zcy.1_5'UTR|U2AF1_uc002zcz.1_5'UTR|U2AF1_uc002zda.1_Missense_Mutation_p.R28H|U2AF1_uc010gpi.1_Missense_Mutation_p.R28H|U2AF1_uc002zdc.1_Missense_Mutation_p.R28H	NM_006758	NP_001020375	Q01081	U2AF1_HUMAN	Homo sapiens U2 small nuclear RNA auxiliary factor 1 (U2AF1), transcript variant a, mRNA.	28					mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	Cajal body|catalytic step 2 spliceosome|nuclear speck	RNA binding|nucleotide binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(111)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	126						GTCTCCATGACGACATGCTCC	0.363000			Mis		"""CLL, MDS"""									23			19		0	0	1	0	0
AARSD1	80755	broad.mit.edu	37	17	41131221	41131221	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:41131221A>C	uc010whg.2	-	3	729	c.383T>G	c.(382-384)gTg>gGg	p.V128G	AARSD1_uc002icd.3_Missense_Mutation_p.V67G|AARSD1_uc002ich.3_Missense_Mutation_p.V90G|AARSD1_uc010whh.2_Intron|RUNDC1_uc021txw.1_5'Flank|RUNDC1_uc002ici.1_5'Flank	NM_001136042	NP_079543	Q9BTE6	AASD1_HUMAN	Homo sapiens alanyl-tRNA synthetase domain containing 1 (AARSD1), transcript variant 1, mRNA.	0					alanyl-tRNA aminoacylation	cytoplasm	ATP binding|alanine-tRNA ligase activity|metal ion binding|nucleic acid binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|skin(1)	17		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.161)		CGGCCAGGCCACCTTTTCCTT	0.522000														198			18		0	0	1	0	0
EXTL3	2137	broad.mit.edu	37	8	28573827	28573827	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:28573827G>A	uc003xgz.1	+	2	844	c.251G>A	c.(250-252)cGc>cAc	p.R84H		NM_001440	NP_001431	O43909	EXTL3_HUMAN	Homo sapiens exostoses (multiple)-like 3 (EXTL3), mRNA.	84						integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding	p.R84H(2)		biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		GATCTGTGCCGCATCCGGGAG	0.597000														24			12		0	0	1	0	0
TRPM6	140803	broad.mit.edu	37	9	77400893	77400893	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:77400893C>A	uc004ajl.1	-	20	3054	c.2816G>T	c.(2815-2817)aGa>aTa	p.R939I	TRPM6_uc004ajk.1_Missense_Mutation_p.R934I|TRPM6_uc022bib.1_Missense_Mutation_p.R934I|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 6 (TRPM6), transcript variant a, mRNA.	939					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						GTAGATCAGTCTTCCCGCTGT	0.468000														142			23		1.50039e-11	1.83529e-11	1	1	0
FGFR4	2264	broad.mit.edu	37	5	176517466	176517466	+	Missense_Mutation	SNP	G	A	A	rs150191035		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:176517466G>A	uc003mfl.3	+	2	334	c.167G>A	c.(166-168)tGc>tAc	p.C56Y	FGFR4_uc003mfm.3_Missense_Mutation_p.C56Y|FGFR4_uc011dfu.2_Missense_Mutation_p.C56Y|FGFR4_uc011dfv.1_Non-coding_Transcript|FGFR4_uc003mfn.1_Missense_Mutation_p.C56Y|FGFR4_uc011dfw.1_Missense_Mutation_p.C56Y|FGFR4_uc003mfo.3_Missense_Mutation_p.C56Y	NM_002011	NP_998812	P22455	FGFR4_HUMAN	Homo sapiens fibroblast growth factor receptor 4 (FGFR4), transcript variant 1, mRNA.	56	Ig-like C2-type 1.				insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Palifermin(DB00039)	GTGCGTCTGTGCTGTGGGCGG	0.682000										TSP Lung(9;0.080)				41			20		0	0	1	0	0
TRIM63	84676	broad.mit.edu	37	1	26383727	26383727	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:26383727C>A	uc001bli.1	-	6	1082	c.946G>T	c.(946-948)Gca>Tca	p.A316S		NM_032588	NP_115977	Q969Q1	TRI63_HUMAN	Homo sapiens tripartite motif containing 63 (TRIM63), mRNA.	316	COS.					cytoplasm|microtubule|nucleus	ligase activity|signal transducer activity|titin binding|zinc ion binding			kidney(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5		Colorectal(325;3.46e-05)|Lung NSC(340;0.000154)|all_lung(284;0.00021)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;9.15e-26)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000767)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		AGGGCGTCTGCTATGTGCTCT	0.532000														39			34		8.4185e-14	1.05054e-13	1	1	0
LAMP1	3916	broad.mit.edu	37	13	113960824	113960824	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:113960824C>T	uc001vtm.1	+	1	367	c.86C>T	c.(85-87)gCa>gTa	p.A29V	LAMP1_uc010tka.1_Missense_Mutation_p.A29V	NM_005561	NP_005552	P11279	LAMP1_HUMAN	Homo sapiens lysosomal-associated membrane protein 1 (LAMP1), mRNA.	29	First lumenal domain.					endosome membrane|integral to plasma membrane|lysosomal membrane|membrane fraction				NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|skin(1)|stomach(2)	16	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246)			GCGTCAGCAGCAATGTTTATG	0.488000														61			45		0	0	1	0	0
ITPR2	3709	broad.mit.edu	37	12	26648141	26648141	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:26648141C>T	uc001rhg.3	-	37	5543	c.5126G>A	c.(5125-5127)aGt>aAt	p.S1709N	ITPR2_uc009zjg.1_5'Flank	NM_002223	NP_002214	Q14571	ITPR2_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 2 (ITPR2), mRNA.	1709					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					CACACCAATACTATAATCACC	0.358000														42			28		0	0	1	0	0
SLC12A5	57468	broad.mit.edu	37	20	44683580	44683580	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:44683580C>T	uc010zxl.1	+	20	2850	c.2774C>T	c.(2773-2775)aCc>aTc	p.T925I	SLC12A5_uc002xrb.2_Missense_Mutation_p.T902I	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporter), member 5 (SLC12A5), transcript variant 1, mRNA.	925					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	TCAGCTTACACCTATGAGAAG	0.567000														14			7		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140165879	140165879	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140165879G>A	uc003lhb.2	+	0	4	c.4G>A	c.(4-6)Gtg>Atg	p.V2M	PCDHAC2_uc003lha.2_Missense_Mutation_p.V2M|PCDHAC2_uc003lgz.3_Missense_Mutation_p.V2M	NM_018900	NP_061723	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 1 (PCDHA1), transcript variant 1, mRNA.	0					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)			TTTTGCAATGGTGTTTTCTAG	0.483000														87			48		0	0	1	0	0
FLCN	201163	broad.mit.edu	37	17	17120461	17120461	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:17120461C>T	uc002gra.4	-	9	1602	c.1098G>A	c.(1096-1098)tgG>tgA	p.W366*	PLD6_uc010cpn.3_Non-coding_Transcript	NM_144997	NP_659434	Q8NFG4	FLCN_HUMAN	Homo sapiens folliculin (FLCN), transcript variant 1, mRNA.	366					regulation of protein phosphorylation	cytoplasm|nucleus|plasma membrane	protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|stomach(1)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						TGAGAACGTGCCAGGCCAGCA	0.512000									Familial Non-VHL Clear Cell Renal Cancer;Birt-Hogg-Dub syndrome					32			3		0	0	1	0	0
TTLL4	9654	broad.mit.edu	37	2	219602861	219602861	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:219602861T>C	uc002viy.3	+	2	832	c.462T>C	c.(460-462)ccT>ccC	p.P154P	TTLL4_uc010zkl.1_5'UTR|TTLL4_uc010fvx.3_Silent_p.P154P	NM_014640	NP_055455	Q14679	TTLL4_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 4 (TTLL4), mRNA.	154					protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		AGAGCCTCCCTGTCAGTCTCA	0.542000														111			12		0	0	1	0	0
IQGAP1	8826	broad.mit.edu	37	15	90934099	90934099	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:90934099C>T	uc002bpl.1	+	1	250	c.149C>T	c.(148-150)gCg>gTg	p.A50V		NM_003870	NP_003861	P46940	IQGA1_HUMAN	Homo sapiens IQ motif containing GTPase activating protein 1 (IQGAP1), mRNA.	50	CH.				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	GTPase inhibitor activity|Ras GTPase activator activity|calmodulin binding|protein phosphatase binding			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			TTGGAAGAAGCGAAGAGGTAA	0.423000														45			26		0	0	1	0	0
C6orf222	389384	broad.mit.edu	37	6	36298234	36298234	+	Silent	SNP	G	A	A	rs138487840	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:36298234G>A	uc003oly.3	-	1	412	c.234C>T	c.(232-234)ccC>ccT	p.P78P		NM_001010903	NP_001010903	P0C671	CF222_HUMAN	Homo sapiens chromosome 6 open reading frame 222 (C6orf222), mRNA.	78										breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						CGGTCTCCTCGGGAGTGGGGG	0.612000														54			31		0	0	1	0	0
ATAD3B	83858	broad.mit.edu	37	1	1421506	1421506	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:1421506G>A	uc001afv.3	+	9	1081	c.980G>A	c.(979-981)cGg>cAg	p.R327Q	ATAD3B_uc021oeq.1_5'UTR|ATAD3B_uc001afx.3_Missense_Mutation_p.R281Q	NM_031921	NP_114127	Q5T9A4	ATD3B_HUMAN	Homo sapiens ATPase family, AAA domain containing 3B (ATAD3B), nuclear gene encoding mitochondrial protein, mRNA.	327							ATP binding|nucleoside-triphosphatase activity			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)|urinary_tract(1)	10	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CTGGAAGCACGGGTGCGCGAC	0.662000														46			13		0	0	1	0	0
ATP9B	374868	broad.mit.edu	37	18	77105535	77105535	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:77105535G>A	uc002lmx.3	+	21	2594	c.2580G>A	c.(2578-2580)ctG>ctA	p.L860L	ATP9B_uc002lmw.1_Silent_p.L860L|ATP9B_uc002lmz.1_Silent_p.L554L|ATP9B_uc002lna.3_5'UTR|ATP9B_uc002lnb.1_5'UTR|ATP9B_uc010drb.3_5'Flank	NM_198531	NP_940933	O43861	ATP9B_HUMAN	Homo sapiens ATPase, class II, type 9B (ATP9B), mRNA.	860					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|aminophospholipid transporter activity|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1)	38		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)		TTGTGACACTGCTGCAGCAGC	0.607000														32			25		0	0	1	0	0
SHKBP1	92799	broad.mit.edu	37	19	41095083	41095083	+	Splice_Site	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:41095083C>T	uc002oob.3	+	15	1638	c.1589_splice	c.e15+1	p.R530_splice	SHKBP1_uc002ooc.3_Splice_Site_p.R505_splice|SHKBP1_uc010xvl.1_Splice_Site_p.R453_splice|SHKBP1_uc002ooe.3_Splice_Site_p.R367_splice|SHKBP1_uc010xvm.2_Splice_Site_p.R310_splice|SHKBP1_uc010xvn.2_Splice_Site_p.R408_splice	NM_138392	NP_612401	Q8TBC3	SHKB1_HUMAN	Homo sapiens SH3KBP1 binding protein 1 (SHKBP1), mRNA.	530						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TACTGGGCAGCGGTGAGGACA	0.617000														11			8		0	0	1	0	0
SND1	27044	broad.mit.edu	37	7	127342560	127342560	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:127342560G>T	uc003vmi.3	+	5	887	c.661G>T	c.(661-663)Gtc>Ttc	p.V221F		NM_014390	NP_055205	Q7KZF4	SND1_HUMAN	Homo sapiens staphylococcal nuclease and tudor domain containing 1 (SND1), mRNA.	221	TNase-like 2.				gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	RNA-induced silencing complex|melanosome|nucleus	nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity			central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						CCTGGTTACAGTCATGCTGTC	0.512000														109			11		3.86212e-05	4.23294e-05	1	1	0
NPHP4	261734	broad.mit.edu	37	1	5965469	5965469	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:5965469T>G	uc001alq.2	-	14	2106	c.1838A>C	c.(1837-1839)aAt>aCt	p.N613T	NPHP4_uc001als.2_Non-coding_Transcript|NPHP4_uc009vlt.2_Non-coding_Transcript|NPHP4_uc001alt.2_Non-coding_Transcript|NPHP4_uc009vlu.2_Non-coding_Transcript	NM_015102	NP_055917	O75161	NPHP4_HUMAN	Homo sapiens nephronophthisis 4 (NPHP4), mRNA.	613					actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		TGGCTGTTTATTGGCATCCAG	0.547000														59			7		0	0	1	0	0
C1orf43	25912	broad.mit.edu	37	1	154184972	154184972	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:154184972G>T	uc001fei.2	-	4	859	c.469C>A	c.(469-471)Ctt>Att	p.L157I	C1orf43_uc001feg.2_Missense_Mutation_p.L123I|C1orf43_uc001feh.2_Missense_Mutation_p.L105I|C1orf43_uc009wos.1_Missense_Mutation_p.L139I|C1orf43_uc001fek.3_Missense_Mutation_p.L157I	NM_001098616	NP_001092086	Q9BWL3	CA043_HUMAN	Homo sapiens chromosome 1 open reading frame 43 (C1orf43), transcript variant 3, mRNA.	157						integral to membrane	coenzyme binding|oxidoreductase activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	10	all_lung(78;1.98e-30)|Lung NSC(65;2.87e-28)|Hepatocellular(266;0.0877)					CCATCCAAAAGGGTATCAATG	0.498000														65			7		1.26484e-09	1.50989e-09	1	1	0
TCP11L1	55346	broad.mit.edu	37	11	33080616	33080616	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:33080616T>G	uc001mud.3	+	5	1150	c.750T>G	c.(748-750)ttT>ttG	p.F250L	TCP11L1_uc009yju.3_Missense_Mutation_p.F65L|TCP11L1_uc010rei.2_Missense_Mutation_p.F250L|TCP11L1_uc001mue.3_Missense_Mutation_p.F250L|TCP11L1_uc001muf.1_Non-coding_Transcript	NM_018393	NP_060863	Q9NUJ3	T11L1_HUMAN	Homo sapiens t-complex 11 (mouse)-like 1 (TCP11L1), transcript variant 1, mRNA.	250										kidney(1)|liver(2)|lung(2)|skin(1)	6						GGAAGAAGTTTCAAGAGATTT	0.398000														157			10		0	0	1	0	0
LAMB4	22798	broad.mit.edu	37	7	107763606	107763606	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:107763606G>A	uc010ljo.1	-	1	88	c.4C>T	c.(4-6)Caa>Taa	p.Q2*	LAMB4_uc003vey.2_Nonsense_Mutation_p.Q2*	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	Homo sapiens laminin, beta 4 (LAMB4), mRNA.	2					cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						AGTTGAAATTGCATTCTTTTG	0.308000														8			53		0	0	1	0	0
FER1L6	654463	broad.mit.edu	37	8	124987529	124987529	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:124987529C>T	uc003yqw.3	+	7	872	c.666C>T	c.(664-666)acC>acT	p.T222T		NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.	222						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			CTTCTGACACCGAGGAGCCAA	0.453000														52			39		0	0	1	0	0
SLITRK5	26050	broad.mit.edu	37	13	88327968	88327968	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:88327968A>C	uc001vln.3	+	1	544	c.325A>C	c.(325-327)Att>Ctt	p.I109L	SLITRK5_uc010tic.1_Intron|SLITRK5_uc021rlc.1_Missense_Mutation_p.I109L	NM_015567	NP_056382	O94991	SLIK5_HUMAN	Homo sapiens SLIT and NTRK-like family, member 5 (SLITRK5), mRNA.	109						integral to membrane		p.S108*(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					TGGGGCTTCAATTTTGCATCT	0.453000														91			58		0	0	1	0	0
ZFYVE1	53349	broad.mit.edu	37	14	73441590	73441590	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:73441590A>G	uc001xnm.3	-	9	2605	c.1884T>C	c.(1882-1884)tgT>tgC	p.C628C	ZFYVE1_uc001xnl.3_Silent_p.C213C|ZFYVE1_uc010arj.3_Silent_p.C614C	NM_021260	NP_067083	Q9HBF4	ZFYV1_HUMAN	Homo sapiens zinc finger, FYVE domain containing 1 (ZFYVE1), transcript variant 1, mRNA.	628						Golgi stack|endoplasmic reticulum|perinuclear region of cytoplasm	1-phosphatidylinositol binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1)	35		all_lung(585;1.33e-09)		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)		AACAGCTGTCACAGAAGCCCT	0.567000														35			17		0	0	1	0	0
DRD5	1816	broad.mit.edu	37	4	9784208	9784208	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:9784208G>A	uc003gmb.4	+	0	951	c.555G>A	c.(553-555)gcG>gcA	p.A185A		NM_000798	NP_000789	P21918	DRD5_HUMAN	Homo sapiens dopamine receptor D5 (DRD5), mRNA.	185					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				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)	GGGACCAGGCGGCCTCTTGGG	0.612000														38			15		0	0	1	0	0
KEAP1	9817	broad.mit.edu	37	19	10600040	10600040	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10600040G>A	uc002moq.1	-	4	1692	c.1536C>T	c.(1534-1536)gtC>gtT	p.V512V	KEAP1_uc002mop.1_Intron|KEAP1_uc002mor.1_Silent_p.V512V	NM_012289	NP_987096	Q14145	KEAP1_HUMAN	Homo sapiens kelch-like ECH-associated protein 1 (KEAP1), transcript variant 2, mRNA.	512					regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			GCAGGACGCAGACGCCTAAAG	0.572000														22			14		0	0	1	0	0
ASNSD1	54529	broad.mit.edu	37	2	190530910	190530910	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:190530910G>A	uc002uqt.3	+	3	486	c.52G>A	c.(52-54)Gat>Aat	p.D18N		NM_019048	NP_061921	Q9NWL6	ASND1_HUMAN	Homo sapiens asparagine synthetase domain containing 1 (ASNSD1), mRNA.	18	Glutamine amidotransferase type-2.				asparagine biosynthetic process|glutamine metabolic process		asparagine synthase (glutamine-hydrolyzing) activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(3)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118)			TTTCAGTCAAGATTTAAAAGA	0.338000														58			31		0	0	1	0	0
PER1	5187	broad.mit.edu	37	17	8053349	8053349	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:8053349C>T	uc002gkd.3	-	3	707	c.469G>A	c.(469-471)Ggc>Agc	p.G157S	PER1_uc010vuq.2_Non-coding_Transcript|PER1_uc010vur.1_Missense_Mutation_p.G141S|PER1_uc010vus.1_Missense_Mutation_p.G157S	NM_002616	NP_002607	O15534	PER1_HUMAN	Homo sapiens period homolog 1 (Drosophila) (PER1), mRNA.	157					circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CCAGAGCGGCCCTTGCCCCGG	0.642000			T	ETV6	"""AML, CMML"""			Other conserved DNA damage response genes						102			52		0	0	1	0	0
KCNH3	23416	broad.mit.edu	37	12	49950198	49950198	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:49950198G>A	uc001ruh.1	+	12	2774	c.2514G>A	c.(2512-2514)aaG>aaA	p.K838K	KCNH3_uc010smj.1_Silent_p.K778K	NM_012284	NP_036416	Q9ULD8	KCNH3_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 3 (KCNH3), mRNA.	838					regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						ACCAGCCCAAGTTCTCTTTCC	0.617000														59			32		0	0	1	0	0
PAPD5	64282	broad.mit.edu	37	16	50257163	50257163	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:50257163C>T	uc010vgo.2	+	7	1236	c.1201C>T	c.(1201-1203)Cga>Tga	p.R401*	PAPD5_uc002efz.3_Nonsense_Mutation_p.R401*|PAPD5_uc010cbi.2_Non-coding_Transcript	NM_001040284	NP_001035374	Q8NDF8	PAPD5_HUMAN	Homo sapiens PAP associated domain containing 5 (PAPD5), transcript variant 1, mRNA.	322					DNA replication|cell division|histone mRNA catabolic process|mitosis	cytoplasm|nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding			endometrium(1)|kidney(1)|lung(2)	4		all_cancers(37;0.0452)		BRCA - Breast invasive adenocarcinoma(181;0.0843)|GBM - Glioblastoma multiforme(240;0.231)		ATTATATGGACGACACTTCAA	0.373000														29			18		0	0	1	0	0
OAF	220323	broad.mit.edu	37	11	120099605	120099605	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:120099605G>A	uc001pxb.3	+	3	817	c.576G>A	c.(574-576)ctG>ctA	p.L192L		NM_178507	NP_848602	Q86UD1	OAF_HUMAN	Homo sapiens OAF homolog (Drosophila) (OAF), mRNA.	192										kidney(1)|lung(5)	6		Breast(109;0.00663)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)		TCGAGGCTCTGCCCAAGGCCT	0.677000														20			11		0	0	1	0	0
GALNT12	79695	broad.mit.edu	37	9	101599426	101599426	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:101599426G>A	uc004ayz.3	+	5	1208	c.1208G>A	c.(1207-1209)cGc>cAc	p.R403H		NM_024642	NP_078918	Q8IXK2	GLT12_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12) (GALNT12), mRNA.	403						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(1)|endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(62;0.0559)				CCCCGTGCCCGCTTGGTGAGT	0.532000														60			48		0	0	1	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85546114	85546114	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:85546114A>G	uc001tac.3	+	19	4497	c.4386A>G	c.(4384-4386)acA>acG	p.T1462T		NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 1 (LRRIQ1), mRNA.	1462										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		CTTCACAAACACTGCTTCTTT	0.393000														58			27		0	0	1	0	0
TALDO1	6888	broad.mit.edu	37	11	755902	755902	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:755902G>A	uc001lqz.3	+	1	171	c.121G>A	c.(121-123)Gat>Aat	p.D41N	TALDO1_uc010qwl.2_Missense_Mutation_p.D41N|TALDO1_uc001lra.3_Missense_Mutation_p.D41N	NM_006755	NP_006746	P37837	TALDO_HUMAN	Homo sapiens transaldolase 1 (TALDO1), mRNA.	41					energy reserve metabolic process|xylulose biosynthetic process	cytosol	protein binding|sedoheptulose-7-phosphate:D-glyceraldehyde-3-phosphate glyceronetransferase activity			breast(1)|kidney(2)|large_intestine(5)|lung(4)|prostate(2)	14		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;4.66e-26)|Epithelial(43;2.97e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.48e-19)|BRCA - Breast invasive adenocarcinoma(625;4.41e-05)|Lung(200;0.0595)|LUSC - Lung squamous cell carcinoma(625;0.0712)		CAAGCCCCAGGATGCTACCAC	0.552000														39			7		0	0	1	0	0
GK	2710	broad.mit.edu	37	4	166199166	166199166	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:166199166G>A	uc003ird.3	-	0	2010	c.1632C>T	c.(1630-1632)atC>atT	p.I544I	KLHL2_uc003irb.3_Intron|KLHL2_uc011cjm.2_Intron|KLHL2_uc003irc.3_Intron|KLHL2_uc010ira.3_Intron	NM_000167	NP_000158	P32189	GLPK_HUMAN	Homo sapiens glycerol kinase (GK), transcript variant 2, mRNA.	550					glycerol-3-phosphate metabolic process|triglyceride biosynthetic process	cytosol|mitochondrial outer membrane	ATP binding|glycerol kinase activity			central_nervous_system(1)|large_intestine(3)	4						ACCTTGCTCCGATTAACATTG	0.433000														60			33		0	0	1	0	0
OSBPL7	114881	broad.mit.edu	37	17	45885670	45885670	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:45885670G>A	uc002ilx.1	-	22	2719	c.2516C>T	c.(2515-2517)gCc>gTc	p.A839V	OSBPL7_uc002ilw.1_Missense_Mutation_p.A401V	NM_145798	NP_665741	Q9BZF2	OSBL7_HUMAN	Homo sapiens oxysterol binding protein-like 7 (OSBPL7), transcript variant 1, mRNA.	839					lipid transport		lipid binding			autonomic_ganglia(1)|endometrium(6)|kidney(2)|large_intestine(5)|liver(2)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						CCAGAGCACGGCCCCATCCAT	0.662000														7			7		0	0	1	0	0
DNAH1	25981	broad.mit.edu	37	3	52398868	52398868	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52398868C>T	uc011bef.2	+	33	5612	c.5351C>T	c.(5350-5352)gCc>gTc	p.A1784V		NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA.	1784					ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TGCCTCCGGGCCATCCGTGAT	0.632000														24			11		0	0	1	0	0
OR1D5	8386	broad.mit.edu	37	17	2966434	2966434	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:2966434G>A	uc021tns.1	-	0	468	c.468C>T	c.(466-468)ggC>ggT	p.G156G		NM_014566	NP_055381	P58170	OR1D5_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily D, member 5 (OR1D5), mRNA.	156					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|lung(10)	11						TGAGGAGGAGGCCATAGAGAA	0.577000														9			13		0	0	1	0	0
TLE2	7089	broad.mit.edu	37	19	3013775	3013775	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:3013775G>A	uc010dth.3	-	10	1031	c.768C>T	c.(766-768)tgC>tgT	p.C256C	TLE2_uc010xhb.2_5'UTR|TLE2_uc002lww.3_Silent_p.C255C|TLE2_uc010xhc.2_Silent_p.C133C|TLE2_uc010dti.3_Silent_p.C269C|TLE2_uc010xhd.1_Silent_p.C163C	NM_003260	NP_003251	Q04725	TLE2_HUMAN	Homo sapiens transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila) (TLE2), transcript variant 1, mRNA.	255	CCN domain.				Wnt receptor signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent	nucleus	protein binding|transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTACCTTTCCGCAGGGGGTGG	0.612000														52			25		0	0	1	0	0
ALOX12	239	broad.mit.edu	37	17	6913121	6913121	+	Silent	SNP	C	T	T	rs151263719		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:6913121C>T	uc002gdx.4	+	11	1649	c.1596C>T	c.(1594-1596)tgC>tgT	p.C532C	LOC100506713_uc021tou.1_Non-coding_Transcript|LOC100506713_uc002gdy.2_Non-coding_Transcript|ALOX12_uc002gdz.4_Silent_p.C2C|RNASEK_uc021tow.1_5'Flank|RNASEK_uc002gea.3_5'Flank|C17orf49_uc002gec.3_5'Flank	NM_000697	NP_000688	P18054	LOX12_HUMAN	Homo sapiens arachidonate 12-lipoxygenase (ALOX12), mRNA.	532	Lipoxygenase.				anti-apoptosis|cellular component movement|fatty acid oxidation|leukotriene biosynthetic process|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of cell proliferation|superoxide anion generation	cytosol|sarcolemma	arachidonate 12-lipoxygenase activity|hepoxilin-epoxide hydrolase activity|iron ion binding|lipoxygenase activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)|urinary_tract(1)	19						TCACCATGTGCGTCTTCACGT	0.552000														54			32		0	0	1	0	0
PER3	8863	broad.mit.edu	37	1	7902734	7902734	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:7902734C>A	uc001aop.3	+	20	3776	c.3552C>A	c.(3550-3552)gcC>gcA	p.A1184A	PER3_uc001aoo.3_Silent_p.A1175A|PER3_uc010nzw.2_Silent_p.A864A	NM_016831	NP_058515	P56645	PER3_HUMAN	Homo sapiens period homolog 3 (Drosophila) (PER3), mRNA.	1175	CRY binding domain (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		TTTTGGAGGCCTGTGTCACTT	0.443000														45			5		0.000602214	0.000641151	1	1	0
PFKL	5211	broad.mit.edu	37	21	45745112	45745112	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:45745112G>A	uc002zek.3	+	21	2496	c.2095G>A	c.(2095-2097)Gac>Aac	p.D699N	PFKL_uc002zel.3_Missense_Mutation_p.D652N|PFKL_uc002zem.3_Missense_Mutation_p.D239N|PFKL_uc002zen.3_Missense_Mutation_p.D239N			P17858	K6PL_HUMAN	Homo sapiens phosphofructokinase, liver (PFKL), transcript variant 1, non-coding RNA.	652					fructose 6-phosphate metabolic process|glycolysis|protein oligomerization	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23				Colorectal(79;0.0811)		GGGCGTCTTCGACTGCAGGAC	0.622000														12			17		0	0	1	0	0
POLB	5423	broad.mit.edu	37	8	42196180	42196180	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:42196180G>T	uc003xoz.2	+	0	208	c.38G>T	c.(37-39)gGg>gTg	p.G13V	POLB_uc011lcs.2_5'UTR	NM_002690	NP_002681	P06746	DPOLB_HUMAN	Homo sapiens polymerase (DNA directed), beta (POLB), mRNA.	13					DNA-dependent DNA replication	cytoplasm|nucleoplasm|spindle microtubule	DNA-(apurinic or apyrimidinic site) lyase activity|DNA-directed DNA polymerase activity|enzyme binding|metal ion binding|microtubule binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(5)|ovary(1)	16	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;2.58e-12)|Lung NSC(13;4.24e-11)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.1)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;3.18e-11)|Lung(22;0.00467)|OV - Ovarian serous cystadenocarcinoma(14;0.00523)|LUSC - Lung squamous cell carcinoma(45;0.024)		Cytarabine(DB00987)	ACTCTCAACGGGGGAATCACC	0.622000								DNA polymerases (catalytic subunits)						93			11		3.07112e-06	3.45634e-06	1	1	0
ENPEP	2028	broad.mit.edu	37	4	111464190	111464190	+	Missense_Mutation	SNP	G	A	A	rs142728357	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:111464190G>A	uc003iab.4	+	12	2306	c.1964G>A	c.(1963-1965)cGt>cAt	p.R655H		NM_001977	NP_001968	Q07075	AMPE_HUMAN	Homo sapiens glutamyl aminopeptidase (aminopeptidase A) (ENPEP), mRNA.	655					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	TCAGCAGATCGTGCAAGTCTT	0.328000														56			47		0	0	1	0	0
NENF	29937	broad.mit.edu	37	1	212619202	212619202	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:212619202C>A	uc001hjd.3	+	3	430	c.373C>A	c.(373-375)Ctg>Atg	p.L125M	NENF_uc010ptf.2_Non-coding_Transcript	NM_013349	NP_037481	Q9UMX5	NENF_HUMAN	Homo sapiens neudesin neurotrophic factor (NENF), transcript variant 1, mRNA.	125	Cytochrome b5 heme-binding.					extracellular space	heme binding			endometrium(1)|kidney(1)|large_intestine(2)	4				all cancers(67;0.00967)|OV - Ovarian serous cystadenocarcinoma(81;0.0108)|GBM - Glioblastoma multiforme(131;0.0325)|Epithelial(68;0.132)		ACTGGAGGCCCTGGATGAGGT	0.532000														105			18		3.32936e-07	3.81974e-07	1	1	0
RADIL	55698	broad.mit.edu	37	7	4855923	4855923	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:4855923C>T	uc003snj.1	-	7	2075	c.1902G>A	c.(1900-1902)tcG>tcA	p.S634S	RADIL_uc003sng.1_Non-coding_Transcript|RADIL_uc003sni.1_Silent_p.S139S|RADIL_uc011jwc.1_Silent_p.S394S|RADIL_uc011jwd.1_Non-coding_Transcript	NM_018059	NP_060529	Q96JH8	RADIL_HUMAN	Homo sapiens Ras association and DIL domains (RADIL), mRNA.	634	Dilute.				cell adhesion|multicellular organismal development|signal transduction		protein binding			NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		CGAGCATCTGCGAGGCCACCT	0.682000														3			10		0	0	1	0	0
C12orf40	283461	broad.mit.edu	37	12	40078672	40078672	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:40078672A>G	uc001rmc.3	+	9	1457	c.1290A>G	c.(1288-1290)ggA>ggG	p.G430G	C12orf40_uc009zjv.1_Non-coding_Transcript	NM_001031748	NP_001026918	Q86WS4	CL040_HUMAN	Homo sapiens chromosome 12 open reading frame 40 (C12orf40), mRNA.	430										breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						TCCTTAGGGGAAATATACCTT	0.373000														65			8		0	0	1	0	0
GRAMD1C	54762	broad.mit.edu	37	3	113652376	113652376	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:113652376C>T	uc003eaq.4	+	11	1304	c.1228C>T	c.(1228-1230)Cgg>Tgg	p.R410W	GRAMD1C_uc011bil.2_Non-coding_Transcript|GRAMD1C_uc011bim.1_Non-coding_Transcript|GRAMD1C_uc003ear.3_Missense_Mutation_p.R243W|GRAMD1C_uc003eas.3_Missense_Mutation_p.R205W|GRAMD1C_uc003eat.3_Missense_Mutation_p.R69W	NM_017577	NP_001165576	Q8IYS0	GRM1C_HUMAN	Homo sapiens GRAM domain containing 1C (GRAMD1C), transcript variant 1, mRNA.	410						integral to membrane				NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	26						TAAAGAAAGTCGGGAAGCACG	0.338000														106			7		0	0	1	0	0
IFIT5	24138	broad.mit.edu	37	10	91177747	91177747	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:91177747C>A	uc010qnh.2	+	1	1022	c.791C>A	c.(790-792)tCc>tAc	p.S264Y	IFIT5_uc010qng.1_Missense_Mutation_p.S216Y	NM_012420	NP_036552	Q13325	IFIT5_HUMAN	Homo sapiens interferon-induced protein with tetratricopeptide repeats 5 (IFIT5), mRNA.	264							binding			endometrium(1)|large_intestine(4)|lung(4)	9						AGAAAAAATTCCTGGAACAAA	0.433000														63			8		3.09899e-07	3.55757e-07	1	1	0
ABCC1	4363	broad.mit.edu	37	16	16101790	16101790	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:16101790T>C	uc010bvi.3	+	1	341	c.166T>C	c.(166-168)Tat>Cat	p.Y56H	ABCC1_uc010bvj.3_Missense_Mutation_p.Y56H|ABCC1_uc010bvk.3_Missense_Mutation_p.Y56H|ABCC1_uc010bvl.3_Missense_Mutation_p.Y56H|ABCC1_uc010bvm.3_Missense_Mutation_p.Y56H|ABCC1_uc002del.4_5'Flank	NM_004996	NP_004987	P33527	MRP1_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 1 (ABCC1), transcript variant 1, mRNA.	56					hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	CTACTTCCTCTATCTCTCCCG	0.522000														50			30		0	0	1	0	0
IPO13	9670	broad.mit.edu	37	1	44423124	44423124	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:44423124C>T	uc001ckx.3	+	6	2238	c.1443C>T	c.(1441-1443)gaC>gaT	p.D481D		NM_014652	NP_055467	O94829	IPO13_HUMAN	Homo sapiens importin 13 (IPO13), mRNA.	481					protein import into nucleus	cytoplasm|nucleus	protein binding|protein transporter activity	p.I480I(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				AGACCATTGACGTCAACTATT	0.567000														55			18		0	0	1	0	0
SORBS2	8470	broad.mit.edu	37	4	186536109	186536109	+	Missense_Mutation	SNP	A	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:186536109A>T	uc003iyg.3	-	16	3133	c.3101T>A	c.(3100-3102)cTc>cAc	p.L1034H	SORBS2_uc003iyh.3_Missense_Mutation_p.L644H|SORBS2_uc011ckw.2_Missense_Mutation_p.L481H|SORBS2_uc003iyi.3_Missense_Mutation_p.L551H|SORBS2_uc011ckx.2_Missense_Mutation_p.L486H|SORBS2_uc003iyk.3_Missense_Mutation_p.L464H|SORBS2_uc003iym.3_Missense_Mutation_p.L1020H|SORBS2_uc003iyl.3_Missense_Mutation_p.L920H|SORBS2_uc003iyn.1_Missense_Mutation_p.L511H|SORBS2_uc011cku.2_Missense_Mutation_p.L312H|SORBS2_uc011ckv.2_Missense_Mutation_p.L824H|SORBS2_uc003iyd.3_Missense_Mutation_p.L619H|SORBS2_uc003iye.3_Missense_Mutation_p.L493H|SORBS2_uc003iya.3_Missense_Mutation_p.L440H|SORBS2_uc003iyb.3_Missense_Mutation_p.L393H|SORBS2_uc003iyc.3_Missense_Mutation_p.L373H|SORBS2_uc003iyf.3_Missense_Mutation_p.L456H|SORBS2_uc003iyo.1_Missense_Mutation_p.L369H	NM_021069	NP_066547	O94875	SRBS2_HUMAN	Homo sapiens sorbin and SH3 domain containing 2 (SORBS2), transcript variant 2, mRNA.	920						Z disc|actin cytoskeleton|nucleus|perinuclear region of cytoplasm	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		AGGAGGTGTGAGTTTCTATGA	0.493000														99			7		0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20975574	20975574	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:20975574G>A	uc010vbe.2	-	52	9632	c.9632C>T	c.(9631-9633)gCg>gTg	p.A3211V	DNAH3_uc010vbd.2_Missense_Mutation_p.A646V	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	3211	AAA 5 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CTTCTCCTTCGCAGCCACGAT	0.473000														75			26		0	0	1	0	0
TRAIP	10293	broad.mit.edu	37	3	49869458	49869458	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49869458A>G	uc003cxs.1	-	10	1034	c.928T>C	c.(928-930)Ttc>Ctc	p.F310L	TRAIP_uc010hla.1_Missense_Mutation_p.F211L	NM_005879	NP_005870	Q9BWF2	TRAIP_HUMAN	Homo sapiens TRAF interacting protein (TRAIP), mRNA.	310	Interaction with CYLD.				cell proliferation|induction of apoptosis	perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TCATCACGGAAGGATGGCCGG	0.552000														63			7		0	0	1	0	0
CFH	3075	broad.mit.edu	37	1	196659244	196659244	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:196659244G>T	uc001gtj.4	+	8	1451	c.1211G>T	c.(1210-1212)aGa>aTa	p.R404I	CFH_uc021pgt.1_5'UTR|CFH_uc001gti.4_Missense_Mutation_p.R404I|CFH_uc009wyw.3_Missense_Mutation_p.R379I|CFH_uc009wyx.3_Missense_Mutation_p.R340I	NM_000186	NP_000177	P08603	CFAH_HUMAN	Homo sapiens complement factor H (CFH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	404	Sushi 7.				complement activation, alternative pathway	extracellular space		p.R404I(2)		NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						AATCATGGAAGAAAGTTTGTA	0.353000														28			6		5.9392e-07	6.7814e-07	1	1	0
ZNF574	64763	broad.mit.edu	37	19	42585217	42585217	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:42585217G>A	uc002osk.4	+	1	2964	c.2729G>A	c.(2728-2730)cGa>cAa	p.R910Q	ZNF574_uc002osm.4_Missense_Mutation_p.R820Q|ZNF574_uc021uva.1_Missense_Mutation_p.R820Q	NM_022752	NP_073589	Q6ZN55	ZN574_HUMAN	Homo sapiens zinc finger protein 574 (ZNF574), mRNA.	820					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20		Prostate(69;0.059)				ACAGGCGAACGACCCTACTCC	0.612000														30			16		0	0	1	0	0
DMTF1	9988	broad.mit.edu	37	7	86823402	86823402	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:86823402G>T	uc003uih.3	+	15	2338	c.2012G>T	c.(2011-2013)aGt>aTt	p.S671I	DMTF1_uc003uii.3_Missense_Mutation_p.S405I|DMTF1_uc003uij.3_Missense_Mutation_p.S405I|DMTF1_uc011khb.2_Missense_Mutation_p.S583I|DMTF1_uc003uik.3_Non-coding_Transcript|DMTF1_uc003uil.3_Missense_Mutation_p.S671I|DMTF1_uc003uin.3_Missense_Mutation_p.S405I	NM_001142327	NP_001135798	Q9Y222	DMTF1_HUMAN	Homo sapiens cyclin D binding myb-like transcription factor 1 (DMTF1), transcript variant 2, mRNA.	671	Interaction with CCND1, CCND2 and CCND3 (By similarity).|Required for transcriptional activation (By similarity).				cell cycle	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)	16	Esophageal squamous(14;0.0058)					GATTTAGCCAGTGCTTATGTT	0.398000														108			27		7.38237e-10	8.84762e-10	1	1	0
SIK2	23235	broad.mit.edu	37	11	111591742	111591742	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:111591742C>T	uc001plt.3	+	11	2018	c.1900C>T	c.(1900-1902)Ccg>Tcg	p.P634S		NM_015191	NP_056006	Q9H0K1	SIK2_HUMAN	Homo sapiens salt-inducible kinase 2 (SIK2), mRNA.	634					intracellular protein kinase cascade|regulation of insulin receptor signaling pathway	Golgi apparatus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						TAACCTGGCGCCGGCGGCTCC	0.532000														54			23		0	0	1	0	0
LRFN5	145581	broad.mit.edu	37	14	42356327	42356327	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:42356327G>T	uc001wvm.3	+	2	1697	c.499G>T	c.(499-501)Gtt>Ttt	p.V167F	LRFN5_uc010ana.3_Missense_Mutation_p.V167F	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 5 (LRFN5), mRNA.	167						integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		TTGGGATGCTGTTGAGAAGAT	0.423000										HNSCC(30;0.082)				25			21		4.35082e-09	5.154e-09	1	1	0
BAIAP2	10458	broad.mit.edu	37	17	79077707	79077707	+	Splice_Site	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:79077707C>T	uc002jzg.2	+	9	973	c.865_splice	c.e9-1	p.R289_splice	BAIAP2_uc002jyz.4_Splice_Site_p.R289_splice|BAIAP2_uc002jza.2_Splice_Site_p.R289_splice|BAIAP2_uc002jzc.2_Splice_Site_p.R289_splice|BAIAP2_uc002jzb.2_Splice_Site_p.R46_splice|BAIAP2_uc010wuh.1_Splice_Site_p.R211_splice|BAIAP2_uc002jzd.2_Splice_Site_p.R289_splice|BAIAP2_uc002jzf.2_Splice_Site_p.R289_splice|BAIAP2_uc002jze.2_Splice_Site_p.R322_splice|BAIAP2_uc002jzh.2_Splice_Site_p.R290_splice|BAIAP2_uc010wui.2_Splice_Site_p.R152_splice	NM_017451	NP_059345	Q9UQB8	BAIP2_HUMAN	Homo sapiens BAI1-associated protein 2 (BAIAP2), transcript variant 2, mRNA.	289					axonogenesis|filopodium assembly|insulin receptor signaling pathway|regulation of actin cytoskeleton organization|response to bacterium	cell junction|cytoskeleton|cytosol|filopodium|nucleus|ruffle	SH3 domain binding|cytoskeletal adaptor activity|proline-rich region binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)	18	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			TTCCCTGCAGCGGATGTCTGC	0.677000														42			23		0	0	1	0	0
PREX1	57580	broad.mit.edu	37	20	47242458	47242458	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:47242458G>A	uc002xtw.1	-	39	4968	c.4945C>T	c.(4945-4947)Cgc>Tgc	p.R1649C	PREX1_uc021wer.1_Non-coding_Transcript|PREX1_uc002xtv.1_Missense_Mutation_p.R946C	NM_020820	NP_065871	Q8TCU6	PREX1_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1 (PREX1), mRNA.	1649					actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|enzyme binding|phospholipid binding	p.R1649H(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			TGGCAGAGGCGGTAGAGGCTG	0.587000														6			4		0	0	1	0	0
C1R	715	broad.mit.edu	37	12	7188444	7188444	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:7188444G>T	uc010sfy.2	-	8	1335	c.1276C>A	c.(1276-1278)Ctg>Atg	p.L426M		NM_001733	NP_001724	P00736	C1R_HUMAN	Homo sapiens complement component 1, r subcomponent (C1R), mRNA.	504	Sushi 2.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|pancreas(1)	16					Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TTGGGATACAGGGTGTGGGCA	0.597000														22			5		0.0215528	0.0220531	1	1	0
C14orf101	54916	broad.mit.edu	37	14	57082683	57082683	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:57082683G>A	uc001xcm.3	+	7	1001	c.879G>A	c.(877-879)agG>agA	p.R293R	C14orf101_uc001xcj.3_Non-coding_Transcript|C14orf101_uc010aot.1_Silent_p.R293R|C14orf101_uc001xcl.1_Non-coding_Transcript|C14orf101_uc001xcn.3_Non-coding_Transcript|C14orf101_uc010trf.2_5'UTR|C14orf101_uc001xco.3_5'UTR	NM_017799	NP_060269	Q9NX78	CN101_HUMAN	Homo sapiens chromosome 14 open reading frame 101 (C14orf101), mRNA.	293						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29				OV - Ovarian serous cystadenocarcinoma(311;0.226)		CAAATATGAGGACCGAACTCT	0.318000														60			38		0	0	1	0	0
RASAL2	9462	broad.mit.edu	37	1	178421775	178421775	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:178421775C>T	uc001glq.3	+	10	2761	c.1997C>T	c.(1996-1998)gCc>gTc	p.A666V	RASAL2_uc001glr.3_Missense_Mutation_p.A518V|RASAL2_uc009wxc.3_Missense_Mutation_p.A32V	NM_170692	NP_733793	Q9UJF2	NGAP_HUMAN	Homo sapiens RAS protein activator like 2 (RASAL2), transcript variant 2, mRNA.	518					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						CAGAACCTGGCCAACTTTGCC	0.428000														95			6		0	0	1	0	0
DOLK	22845	broad.mit.edu	37	9	131708454	131708454	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:131708454G>A	uc004bwr.3	-	0	1559	c.1129C>T	c.(1129-1131)Cgc>Tgc	p.R377C	NUP188_uc004bws.1_5'Flank|NUP188_uc004bwq.1_Intron	NM_014908	NP_055723	Q9UPQ8	DOLK_HUMAN	Homo sapiens dolichol kinase (DOLK), mRNA.	377					dolichyl diphosphate biosynthetic process|dolichyl monophosphate biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to endoplasmic reticulum membrane|membrane fraction	dolichol kinase activity			breast(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	11						CGGAAGTAGCGCACATACTCC	0.522000														62			37		0	0	1	0	0
CCDC132	55610	broad.mit.edu	37	7	92887538	92887538	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:92887538C>T	uc003umo.3	+	6	618	c.490C>T	c.(490-492)Cgt>Tgt	p.R164C	CCDC132_uc003ump.3_Missense_Mutation_p.R134C|CCDC132_uc003umr.3_Non-coding_Transcript|CCDC132_uc011khz.2_Intron|CCDC132_uc003umn.3_Missense_Mutation_p.R164C	NM_017667	NP_060137	Q96JG6	CC132_HUMAN	Homo sapiens coiled-coil domain containing 132 (CCDC132), transcript variant 1, mRNA.	164										endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			TCAAAGGAAACGTCAGTTGCT	0.313000														48			10		0	0	1	0	0
AIFM1	9131	broad.mit.edu	37	X	129265659	129265659	+	Nonsense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:129265659C>A	uc004evg.3	-	13	1795	c.1564G>T	c.(1564-1566)Gag>Tag	p.E522*	AIFM1_uc011mur.2_Nonsense_Mutation_p.E170*|AIFM1_uc011mus.2_3'UTR|AIFM1_uc004evh.3_Nonsense_Mutation_p.E518*|AIFM1_uc004evi.3_Nonsense_Mutation_p.E235*|AIFM1_uc004evk.3_Nonsense_Mutation_p.E170*	NM_004208	NP_004199	O95831	AIFM1_HUMAN	Homo sapiens apoptosis-inducing factor, mitochondrion-associated, 1 (AIFM1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	522					DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change|activation of caspase activity|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis	cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|nucleus|perinuclear region of cytoplasm	DNA binding|electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity|protein binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(4)|prostate(2)|urinary_tract(1)	30						CCTGACTGCTCTGTGGCAGAT	0.488000														257			14		3.27435e-08	3.82583e-08	1	1	0
TMEM63C	57156	broad.mit.edu	37	14	77719720	77719720	+	Splice_Site	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:77719720G>A	uc001xtf.2	+	23	2432	c.2220_splice	c.e23+1	p.L740_splice	TMEM63C_uc010asq.1_Splice_Site_p.L740_splice	NM_020431	NP_065164	Q9P1W3	TM63C_HUMAN	Homo sapiens transmembrane protein 63C (TMEM63C), mRNA.	740						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1)	23			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)		CACCTCCCTCGTGAGTCCTGA	0.612000														11			4		0	0	1	0	0
DECR1	1666	broad.mit.edu	37	8	91033202	91033202	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:91033202G>A	uc003yek.1	+	4	624	c.483G>A	c.(481-483)tgG>tgA	p.W161*	DECR1_uc011lgc.1_Nonsense_Mutation_p.W152*|DECR1_uc011lgd.1_Non-coding_Transcript	NM_001359	NP_001350	Q16698	DECR_HUMAN	Homo sapiens 2,4-dienoyl CoA reductase 1, mitochondrial (DECR1), nuclear gene encoding mitochondrial protein, mRNA.	161					fatty acid beta-oxidation|protein homotetramerization	mitochondrial matrix|nucleus|plasma membrane	2,4-dienoyl-CoA reductase (NADPH) activity|NADPH binding|oxidoreductase activity, acting on NADH or NADPH			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	15			BRCA - Breast invasive adenocarcinoma(11;0.00953)			CTAATGCTTGGAAAACCATAA	0.333000														37			30		0	0	1	0	0
P2RY4	5030	broad.mit.edu	37	X	69479340	69479340	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:69479340G>T	uc004dxz.1	-	0	315	c.135C>A	c.(133-135)gtC>gtA	p.V45V		NM_002565	NP_002556	P51582	P2RY4_HUMAN	Homo sapiens pyrimidinergic receptor P2Y, G-protein coupled, 4 (P2RY4), mRNA.	45					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			cervix(2)|endometrium(2)|large_intestine(8)|lung(6)	18						CCAGCACAAAGACAACTGCAT	0.567000														9			5		0.014758	0.0151755	1	1	0
COL7A1	1294	broad.mit.edu	37	3	48627942	48627942	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:48627942C>T	uc003ctz.2	-	13	1857	c.1856G>A	c.(1855-1857)gGa>gAa	p.G619E		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA.	619	Fibronectin type-III 5.|Nonhelical region (NC1).				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		AGGGACGGGTCCCCAGGCCAC	0.592000														24			14		0	0	1	0	0
ZNF182	7569	broad.mit.edu	37	X	47835672	47835672	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:47835672T>G	uc004dir.3	-	6	2160	c.1814A>C	c.(1813-1815)aAa>aCa	p.K605T	ZNF182_uc004dis.3_Missense_Mutation_p.K586T|ZNF182_uc004dit.3_Missense_Mutation_p.K605T	NM_006962	NP_008893	P17025	ZN182_HUMAN	Homo sapiens zinc finger protein 182 (ZNF182), transcript variant 1, mRNA.	605					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)	22						GGTAAAGGCTTTCCCACATTC	0.438000														148			14		0	0	1	0	0
LOC440040	440040	broad.mit.edu	37	11	49598030	49598030	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:49598030G>T	uc010rhy.2	+	1	621	c.143G>T	c.(142-144)aGg>aTg	p.R48M	LOC440040_uc009ymb.3_Missense_Mutation_p.R48M					Homo sapiens glutamate receptor, metabotropic 5 pseudogene (LOC440040), non-coding RNA.																		ACCCTGGAAAGGATCAATTCA	0.542000														23			5		0.014758	0.0151755	1	1	0
ZBED4	9889	broad.mit.edu	37	22	50278552	50278552	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:50278552C>A	uc003bix.2	+	1	1712	c.1242C>A	c.(1240-1242)ttC>ttA	p.F414L	ZBED4_uc021wrx.1_Missense_Mutation_p.F414L	NM_014838	NP_055653	O75132	ZBED4_HUMAN	Homo sapiens zinc finger, BED-type containing 4 (ZBED4), mRNA.	414						cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		TGGCGGCCTTCTCATCTTCCG	0.587000														62			5		0.0215528	0.0220531	1	1	0
IQCH	64799	broad.mit.edu	37	15	67664560	67664560	+	Nonsense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:67664560G>T	uc002aqo.2	+	8	962	c.865G>T	c.(865-867)Gaa>Taa	p.E289*	IQCH_uc010ujv.2_Nonsense_Mutation_p.E108*|IQCH_uc002aqn.2_Nonsense_Mutation_p.E116*|IQCH_uc002aqp.2_Nonsense_Mutation_p.E41*|IQCH_uc002aqq.2_Nonsense_Mutation_p.E37*	NM_001031715	NP_001026885	Q86VS3	IQCH_HUMAN	Homo sapiens IQ motif containing H (IQCH), transcript variant 1, mRNA.	289										NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		AGCATTCAAGGAACATTTTAG	0.388000														89			8		0.00307968	0.00322291	1	1	0
RHO	6010	broad.mit.edu	37	3	129252543	129252543	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:129252543C>T	uc003emt.3	+	4	1124	c.1029C>T	c.(1027-1029)agC>agT	p.S343S		NM_000539	NP_000530	P08100	OPSD_HUMAN	Homo sapiens rhodopsin (RHO), mRNA.	343					protein-chromophore linkage|rhodopsin mediated signaling pathway	Golgi apparatus|integral to plasma membrane|photoreceptor inner segment membrane|photoreceptor outer segment membrane	G-protein coupled receptor activity|metal ion binding|photoreceptor activity|protein binding			breast(1)|endometrium(1)|large_intestine(10)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	22		all_neural(597;0.0227)|Myeloproliferative disorder(1037;0.0255)|Prostate(884;0.183)		GBM - Glioblastoma multiforme(114;2.58e-05)|Lung(219;0.0234)	Halothane(DB01159)	CGGAGACGAGCCAGGTGGCCC	0.627000														32			33		0	0	1	0	0
FGD6	55785	broad.mit.edu	37	12	95605029	95605029	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:95605029G>A	uc001tdp.4	-	1	255	c.31C>T	c.(31-33)Cca>Tca	p.P11S	FGD6_uc009zsx.3_Intron	NM_018351	NP_060821	Q6ZV73	FGD6_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 6 (FGD6), mRNA.	11					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	Golgi apparatus|cytoskeleton|lamellipodium|ruffle	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						GGGGCCACTGGTGGCTTCTTT	0.378000														59			24		0	0	1	0	0
KIAA0100	9703	broad.mit.edu	37	17	26962484	26962484	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:26962484C>T	uc002hbu.3	-	15	2224	c.2121G>A	c.(2119-2121)gaG>gaA	p.E707E		NM_014680	NP_055495	Q14667	K0100_HUMAN	Homo sapiens KIAA0100 (KIAA0100), mRNA.	707						extracellular region				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					TTCCTGAAGTCTCTAGTGCAA	0.537000														42			25		0	0	1	0	0
PLXNB3	5365	broad.mit.edu	37	X	153040344	153040344	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153040344C>T	uc010nuk.2	+	24	4281	c.4010C>T	c.(4009-4011)aCg>aTg	p.T1337M	PLXNB3_uc004fii.2_Missense_Mutation_p.T1314M|PLXNB3_uc011mzd.1_Missense_Mutation_p.T953M|PLXNB3_uc004fij.1_Non-coding_Transcript|SRPK3_uc004fik.3_5'Flank	NM_001163257	NP_001156729	Q9ULL4	PLXB3_HUMAN	Homo sapiens plexin B3 (PLXNB3), transcript variant 2, mRNA.	1314					axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					GACCTCATGACGGAGATGACC	0.687000														46			32		0	0	1	0	0
EFCAB7	84455	broad.mit.edu	37	1	64011660	64011660	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:64011660G>T	uc001dbf.3	+	6	1172	c.878G>T	c.(877-879)aGg>aTg	p.R293M	DLEU2L_uc001dbg.1_5'Flank	NM_032437	NP_115813	A8K855	EFCB7_HUMAN	Homo sapiens EF-hand calcium binding domain 7 (EFCAB7), mRNA.	293							calcium ion binding			breast(1)|endometrium(4)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19						CATCAGTACAGGATGCAAATA	0.328000														36			35		3.67414e-24	4.79446e-24	1	1	0
C19orf46	163183	broad.mit.edu	37	19	36499482	36499482	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:36499482G>A	uc002ocq.1	-	0	191	c.102C>T	c.(100-102)tgC>tgT	p.C34C	C19orf46_uc021utd.1_Silent_p.C34C|C19orf46_uc002ocr.1_Silent_p.C34C|C19orf46_uc002ocs.1_Silent_p.C34C|C19orf46_uc010een.1_Missense_Mutation_p.P5S	NM_001039876	NP_001034965	Q8N205	SYNE4_HUMAN	Homo sapiens chromosome 19 open reading frame 46 (C19orf46), mRNA.	34					establishment of epithelial cell apical/basal polarity	integral to nuclear outer membrane	actin binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	8	all_lung(56;1.35e-06)|Lung NSC(56;2.15e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CGGACGCGGGGCAGACGGTGC	0.657000														39			36		0	0	1	0	0
DDX18	8886	broad.mit.edu	37	2	118577331	118577331	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:118577331T>C	uc002tlh.1	+	2	576	c.477T>C	c.(475-477)gaT>gaC	p.D159D		NM_006773	NP_006764	Q9NVP1	DDX18_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 18 (DDX18), mRNA.	159							ATP binding|ATP-dependent RNA helicase activity|RNA binding			breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						ATGATGAAGATGAGAGTGAGG	0.403000											OREG0003814	type=REGULATORY REGION|Gene=DDX18|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		21			15		0	0	1	0	0
SRP68	6730	broad.mit.edu	37	17	74060232	74060232	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:74060232A>C	uc002jqk.1	-	3	421	c.386T>G	c.(385-387)aTg>aGg	p.M129R	SRP68_uc010wsu.1_Missense_Mutation_p.M28R|SRP68_uc002jql.1_Missense_Mutation_p.M91R	NM_014230	NP_055045	Q9UHB9	SRP68_HUMAN	Homo sapiens signal recognition particle 68kDa (SRP68), mRNA.	129					response to drug	cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting	RNA binding|signal recognition particle binding			NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3)	23						TTCAGCATCCATCAGAACCAG	0.493000														55			40		0	0	1	0	0
WDR81	124997	broad.mit.edu	37	17	1631740	1631740	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:1631740G>A	uc002ftj.2	+	0	3616	c.3487G>A	c.(3487-3489)Gtg>Atg	p.V1163M	WDR81_uc002fth.2_Missense_Mutation_p.V112M|WDR81_uc010vqp.1_Intron|WDR81_uc002fti.2_Intron|WDR81_uc010vqq.1_5'Flank	NM_001163809	NP_001157281	B3KXU1	B3KXU1_HUMAN	Homo sapiens WD repeat domain 81 (WDR81), transcript variant 1, mRNA.	0										cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		ggaCAGCTGCGTGGTGCTAga	0.632000														10			9		0	0	1	0	0
STK31	56164	broad.mit.edu	37	7	23809314	23809314	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:23809314T>C	uc003sws.4	+	12	1719	c.1652T>C	c.(1651-1653)aTt>aCt	p.I551T	STK31_uc003swt.4_Missense_Mutation_p.I528T|STK31_uc011jze.2_Missense_Mutation_p.I551T|STK31_uc010kuq.3_Missense_Mutation_p.I528T	NM_031414	NP_116562	Q9BXU1	STK31_HUMAN	Homo sapiens serine/threonine kinase 31 (STK31), transcript variant 1, mRNA.	551							ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						ATGGATAATATTGATGAAATC	0.358000														219			13		0	0	1	0	0
CTDSP1	58190	broad.mit.edu	37	2	219268072	219268072	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:219268072C>T	uc002vhy.3	+	5	925	c.589C>T	c.(589-591)Cga>Tga	p.R197*	CTDSP1_uc021vwv.1_Nonsense_Mutation_p.R196*|CTDSP1_uc002vhx.3_Nonsense_Mutation_p.R196*|CTDSP1_uc002vhz.3_Nonsense_Mutation_p.R56*	NM_021198	NP_067021	Q9GZU7	CTDS1_HUMAN	Homo sapiens CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 1 (CTDSP1), transcript variant 1, mRNA.	197	FCP1 homology.				protein dephosphorylation|regulation of transcription from RNA polymerase II promoter	nucleus	CTD phosphatase activity|metal ion binding|protein binding			NS(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	8		Renal(207;0.0915)		Epithelial(149;9.96e-07)|all cancers(144;0.00017)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCGGTTGGGTCGAGACCTGCG	0.622000														20			10		0	0	1	0	0
ST14	6768	broad.mit.edu	37	11	130068297	130068297	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:130068297C>T	uc001qfw.3	+	12	1747	c.1554C>T	c.(1552-1554)agC>agT	p.S518S		NM_021978	NP_068813	Q9Y5Y6	ST14_HUMAN	Homo sapiens suppression of tumorigenicity 14 (colon carcinoma) (ST14), mRNA.	518	LDL-receptor class A 2.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	GAGACAACAGCGACGAGCAGG	0.662000														48			12		0	0	1	0	0
ZEB1	6935	broad.mit.edu	37	10	31791292	31791292	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:31791292C>T	uc001ivs.4	+	3	399	c.336C>T	c.(334-336)tgC>tgT	p.C112C	ZEB1_uc001ivr.4_5'UTR|ZEB1_uc010qef.2_5'UTR|ZEB1_uc009xlh.1_Non-coding_Transcript|ZEB1_uc009xli.1_Non-coding_Transcript|ZEB1_uc009xlj.1_Intron|ZEB1_uc010qeg.1_Intron|ZEB1_uc009xlk.1_5'UTR|ZEB1_uc001ivu.4_Silent_p.C113C|ZEB1_uc010qeh.2_Silent_p.C45C|ZEB1_uc001ivv.4_Silent_p.C92C|ZEB1_uc001ivt.4_5'UTR|ZEB1_uc009xll.2_Non-coding_Transcript|ZEB1_uc009xlm.1_Non-coding_Transcript|ZEB1_uc009xln.1_Non-coding_Transcript|ZEB1_uc009xlo.2_Silent_p.C95C|ZEB1_uc009xlp.3_Silent_p.C96C	NM_030751	NP_110378	P37275	ZEB1_HUMAN	Homo sapiens zinc finger E-box binding homeobox 1 (ZEB1), transcript variant 2, mRNA.	112					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	p.C112C(2)		NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				ATGATGAATGCGAGTCAGATG	0.338000														37			17		0	0	1	0	0
CCR6	1235	broad.mit.edu	37	6	167549745	167549745	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:167549745C>T	uc003qvl.3	+	12	2503	c.27C>T	c.(25-27)agC>agT	p.S9S	CCR6_uc010kkm.3_Silent_p.S9S|CCR6_uc003qvn.4_Silent_p.S9S|CCR6_uc003qvm.4_Silent_p.S9S	NM_031409	NP_113597	P51684	CCR6_HUMAN	Homo sapiens chemokine (C-C motif) receptor 6 (CCR6), transcript variant 2, mRNA.	9					cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|humoral immune response	integral to plasma membrane	C-C chemokine receptor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	14		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;8.21e-20)|BRCA - Breast invasive adenocarcinoma(81;4.55e-06)|GBM - Glioblastoma multiforme(31;0.00507)		TGAATTTCAGCGATGTTTTCG	0.408000														103			63		0	0	1	0	0
ZNF707	286075	broad.mit.edu	37	8	144776283	144776283	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:144776283C>T	uc003yze.4	+	6	1014	c.699C>T	c.(697-699)tgC>tgT	p.C233C	ZNF707_uc010mfh.3_Silent_p.C233C|ZNF707_uc010mfi.3_Silent_p.C233C|ZNF707_uc003yzf.4_Silent_p.C233C|ZNF707_uc003yzh.4_Silent_p.C160C|ZNF707_uc011lkq.1_Non-coding_Transcript	NM_173831	NP_776192	Q96C28	ZN707_HUMAN	Homo sapiens zinc finger protein 707 (ZNF707), transcript variant 1, mRNA.	233					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(1)	1	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;5.6e-41)|Epithelial(56;1.02e-39)|all cancers(56;9.65e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			AGCCCTTCTGCTGCGAGGCCT	0.662000														11			5		0	0	1	0	0
TBCD	6904	broad.mit.edu	37	17	80885151	80885151	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:80885151G>A	uc002kfy.1	+	28	2691	c.2561G>A	c.(2560-2562)gGc>gAc	p.G854D	TBCD_uc002kfz.3_Missense_Mutation_p.G854D|TBCD_uc002kgb.1_Missense_Mutation_p.G179D|TBCD_uc002kgd.3_5'Flank	NM_005993	NP_005984	Q9BTW9	TBCD_HUMAN	Homo sapiens tubulin folding cofactor D (TBCD), mRNA.	854					'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	GTPase activator activity|beta-tubulin binding|chaperone binding					Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			GCGCTGCTGGGCTGCATGGAC	0.547000														21			13		0	0	1	0	0
DENND1C	79958	broad.mit.edu	37	19	6467603	6467603	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:6467603G>A	uc002mfe.3	-	22	2410	c.2318C>T	c.(2317-2319)tCc>tTc	p.S773F	DENND1C_uc002mfb.3_Missense_Mutation_p.S323F|DENND1C_uc002mfc.3_Missense_Mutation_p.S323F|DENND1C_uc002mfd.3_Missense_Mutation_p.S323F|DENND1C_uc010xje.2_Missense_Mutation_p.S729F	NM_024898	NP_079174	Q8IV53	DEN1C_HUMAN	Homo sapiens DENN/MADD domain containing 1C (DENND1C), mRNA.	773						clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity			endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						TGTAGCAGGGGAATTCAGGGC	0.617000														20			16		0	0	1	0	0
TLR10	81793	broad.mit.edu	37	4	38776140	38776140	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:38776140T>C	uc003gtj.3	-	3	1710	c.1072A>G	c.(1072-1074)Aat>Gat	p.N358D	TLR10_uc021xnk.1_Missense_Mutation_p.N344D|TLR10_uc003gti.3_Missense_Mutation_p.N358D|TLR10_uc021xnl.1_Missense_Mutation_p.N358D|TLR10_uc003gtk.3_Missense_Mutation_p.N358D|TLR10_uc021xnm.1_Missense_Mutation_p.N358D	NM_030956	NP_001182037	Q9BXR5	TLR10_HUMAN	Homo sapiens toll-like receptor 10 (TLR10), transcript variant 1, mRNA.	358					MyD88-dependent toll-like receptor signaling pathway|inflammatory response|innate immune response	integral to membrane|plasma membrane	transmembrane receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						GTTAAGATATTATTGGCAAAA	0.333000														72			10		0	0	1	0	0
SLC39A14	23516	broad.mit.edu	37	8	22273680	22273680	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:22273680G>A	uc003xbq.4	+	6	1209	c.1034G>A	c.(1033-1035)gGc>gAc	p.G345D	SLC39A14_uc011kzg.2_Missense_Mutation_p.G345D|SLC39A14_uc003xbp.4_Missense_Mutation_p.G345D|SLC39A14_uc011kzh.2_Missense_Mutation_p.G345D	NM_001128431	NP_001128625	Q15043	S39AE_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 14 (SLC39A14), transcript variant 1, mRNA.	345						Golgi apparatus|endoplasmic reticulum|integral to membrane|lamellipodium|plasma membrane	zinc ion transmembrane transporter activity	p.G345G(1)		NS(1)|endometrium(4)|large_intestine(2)|lung(4)|prostate(1)	12				Colorectal(74;0.019)|COAD - Colon adenocarcinoma(73;0.0731)		CTGAGCGACGGCCTCCATAAT	0.557000														52			29		0	0	1	0	0
ZUFSP	221302	broad.mit.edu	37	6	116973311	116973311	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:116973311C>T	uc003pxf.2	-	5	1266	c.1006G>A	c.(1006-1008)Gat>Aat	p.D336N	ZUFSP_uc010kef.2_Missense_Mutation_p.D140N	NM_145062	NP_659499	Q96AP4	ZUFSP_HUMAN	Homo sapiens zinc finger with UFM1-specific peptidase domain (ZUFSP), mRNA.	336						intracellular	zinc ion binding			NS(1)|endometrium(2)|kidney(6)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21				GBM - Glioblastoma multiforme(226;0.0258)|all cancers(137;0.0368)|OV - Ovarian serous cystadenocarcinoma(136;0.0464)|Epithelial(106;0.186)		CGTCTCACATCTGTGGCAGCA	0.393000														49			32		0	0	1	0	0
SLC12A4	6560	broad.mit.edu	37	16	67980444	67980444	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:67980444G>T	uc010vkj.1	-	16	2380	c.2340C>A	c.(2338-2340)atC>atA	p.I780I	LCAT_uc002euy.1_5'Flank|SLC12A4_uc010ceu.2_Silent_p.I772I|SLC12A4_uc010vkh.1_Silent_p.I747I|SLC12A4_uc002euz.2_Silent_p.I778I|SLC12A4_uc010vki.1_Silent_p.I778I|SLC12A4_uc002eva.2_Silent_p.I778I|SLC12A4_uc010cev.1_Intron	NM_001145962	NP_001139434	Q9UP95	S12A4_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 4 (SLC12A4), transcript variant 3, mRNA.	778					cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	CACAGGACTGGATGAGGTGGG	0.632000														69			16		9.16793e-09	1.08001e-08	1	1	0
SLC19A2	10560	broad.mit.edu	37	1	169439274	169439274	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:169439274A>G	uc001gge.4	-	2	1162	c.958T>C	c.(958-960)Tgg>Cgg	p.W320R	SLC19A2_uc001ggf.4_Missense_Mutation_p.W119R	NM_006996	NP_008927	O60779	S19A2_HUMAN	Homo sapiens solute carrier family 19 (thiamine transporter), member 2 (SLC19A2), mRNA.	320					thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|folic acid transporter activity|reduced folate carrier activity|thiamine uptake transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	11	all_hematologic(923;0.208)					ACTTTCTCCCACAGGCCCTGT	0.522000														48			28		0	0	1	0	0
ERGIC3	51614	broad.mit.edu	37	20	34144848	34144848	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:34144848G>A	uc002xcs.3	+	11	1068	c.999G>A	c.(997-999)tcG>tcA	p.S333S	ERGIC3_uc002xct.3_Silent_p.S328S	NM_198398	NP_938408	Q9Y282	ERGI3_HUMAN	Homo sapiens ERGIC and golgi 3 (ERGIC3), transcript variant 1, mRNA.	328					vesicle-mediated transport	ER-Golgi intermediate compartment membrane|Golgi apparatus|endoplasmic reticulum membrane|integral to membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)	16	Lung NSC(9;0.00489)|all_lung(11;0.00729)		BRCA - Breast invasive adenocarcinoma(18;0.0127)			ATGAGCTCTCGCCCATGATGG	0.602000														20			19		0	0	1	0	0
FAT2	2196	broad.mit.edu	37	5	150947377	150947377	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:150947377A>G	uc003lue.4	-	0	1129	c.1116T>C	c.(1114-1116)agT>agC	p.S372S	FAT2_uc010jhx.1_Silent_p.S372S	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	372	Cadherin 3.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGGAAAACTCACTAAGCTGCA	0.507000														52			5		0	0	1	0	0
UROS	7390	broad.mit.edu	37	10	127477544	127477544	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:127477544C>T	uc001liw.4	-	8	824	c.691G>A	c.(691-693)Gcg>Acg	p.A231T	UROS_uc001lix.4_Missense_Mutation_p.A231T|UROS_uc021qao.1_Non-coding_Transcript	NM_000375	NP_000366	P10746	HEM4_HUMAN	Homo sapiens uroporphyrinogen III synthase (UROS), mRNA.	231					heme biosynthetic process|uroporphyrinogen III biosynthetic process	cytosol|mitochondrion	uroporphyrinogen-III synthase activity			endometrium(2)|large_intestine(2)|lung(2)|skin(1)	7		all_lung(145;0.00756)|Lung NSC(174;0.0116)|Colorectal(57;0.0855)|all_neural(114;0.0937)|Breast(234;0.203)				GCGGCCAGCGCGCGAGCCGTA	0.637000														9			7		0	0	1	0	0
PNISR	25957	broad.mit.edu	37	6	99860437	99860437	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:99860437C>T	uc003ppo.4	-	3	495	c.267G>A	c.(265-267)atG>atA	p.M89I	PNISR_uc003ppp.4_Missense_Mutation_p.M89I|PNISR_uc011eag.2_Missense_Mutation_p.M89I|PNISR_uc003ppr.2_Missense_Mutation_p.M89I|PNISR_uc003ppt.2_Missense_Mutation_p.M89I|PNISR_uc003pps.2_Missense_Mutation_p.M89I	NM_032870	NP_116259	Q8TF01	PNISR_HUMAN	Homo sapiens PNN-interacting serine/arginine-rich protein (PNISR), transcript variant 1, mRNA.	89						nuclear speck				breast(2)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						CTGGTTGCCACATTCTGTTGA	0.323000														39			25		0	0	1	0	0
ANKRD44	91526	broad.mit.edu	37	2	197990716	197990716	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:197990716T>C	uc021vuj.1	-	4	500	c.307A>G	c.(307-309)Agg>Ggg	p.R103G	ANKRD44_uc021vuk.1_Missense_Mutation_p.R78G|ANKRD44_uc002uub.3_Missense_Mutation_p.R103G|ANKRD44_uc010zgw.2_Missense_Mutation_p.R31G|ANKRD44_uc002uuc.3_Missense_Mutation_p.R103G	NM_001195144	NP_001182073	Q8N8A2	ANR44_HUMAN	Homo sapiens ankyrin repeat domain 44 (ANKRD44), transcript variant A, mRNA.	103							protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			TTCTTGTCCCTTGCATTGACA	0.468000														102			11		0	0	1	0	0
APLP1	333	broad.mit.edu	37	19	36362885	36362885	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:36362885A>G	uc002oce.3	+	5	935	c.797A>G	c.(796-798)gAa>gGa	p.E266G	APLP1_uc010xsz.2_Missense_Mutation_p.E227G|APLP1_uc002ocf.3_Missense_Mutation_p.E266G|APLP1_uc002ocg.3_Missense_Mutation_p.E169G|APLP1_uc010xta.2_Missense_Mutation_p.E260G	NM_005166	NP_005157	P51693	APLP1_HUMAN	Homo sapiens amyloid beta (A4) precursor-like protein 1 (APLP1), transcript variant 2, mRNA.	266	Poly-Glu.				apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis	basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane	alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GCTGAAGAGGAAGAGGAAACG	0.597000														144			10		0	0	1	0	0
MATN4	8785	broad.mit.edu	37	20	43933260	43933260	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:43933260C>A	uc002xnn.2	-	2	438	c.251G>T	c.(250-252)aGc>aTc	p.S84I	MATN4_uc002xnp.2_Missense_Mutation_p.S84I|MATN4_uc002xno.2_Missense_Mutation_p.S84I|MATN4_uc010zwr.1_Missense_Mutation_p.S32I|MATN4_uc002xnr.1_Missense_Mutation_p.S84I|RBPJL_uc002xns.3_5'Flank|RBPJL_uc002xnt.3_5'Flank	NM_003833	NP_003824	O95460	MATN4_HUMAN	Homo sapiens matrilin 4 (MATN4), transcript variant 1, mRNA.	84	VWFA 1.					extracellular region	protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				AGGGAAGACGCTCTGCACTTG	0.652000														26			8		1.12685e-05	1.25391e-05	1	1	0
CHST3	9469	broad.mit.edu	37	10	73767214	73767214	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:73767214G>A	uc001jsn.3	+	2	865	c.425G>A	c.(424-426)cGc>cAc	p.R142H	ANAPC16_uc021psn.1_Intron	NM_004273	NP_004264	Q7LGC8	CHST3_HUMAN	Homo sapiens carbohydrate (chondroitin 6) sulfotransferase 3 (CHST3), mRNA.	142					chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 6-sulfotransferase activity			endometrium(1)|lung(5)	6						GCCACCACGCGCACCGGCTCC	0.667000														10			6		0	0	1	0	0
PLAA	9373	broad.mit.edu	37	9	26919311	26919311	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:26919311T>C	uc003zqd.3	-	8	1839	c.1414A>G	c.(1414-1416)Aca>Gca	p.T472A	PLAA_uc003zqe.2_Missense_Mutation_p.T472A	NM_001031689	NP_001026859	Q9Y263	PLAP_HUMAN	Homo sapiens phospholipase A2-activating protein (PLAA), mRNA.	472					phospholipid metabolic process|signal transduction		phospholipase A2 activator activity	p.S471P(1)		breast(1)|endometrium(7)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	17		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)		Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011)		AACTTACCTGTAAATGGATCT	0.303000														36			25		0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8501014	8501014	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:8501014G>A	uc003zkk.3	-	23	2611	c.1868C>T	c.(1867-1869)tCc>tTc	p.S623F	PTPRD_uc003zkp.3_Intron|PTPRD_uc003zkq.3_Intron|PTPRD_uc003zkr.3_Intron|PTPRD_uc003zks.3_Intron|PTPRD_uc022bdj.1_Intron	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	623	Fibronectin type-III 4.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.S623F(2)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		AATACTAGTGGAACTTGGGCT	0.443000										TSP Lung(15;0.13)				21			24		0	0	1	0	0
SENP2	59343	broad.mit.edu	37	3	185318632	185318632	+	Silent	SNP	G	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:185318632G>C	uc003fpn.3	+	4	609	c.438G>C	c.(436-438)ctG>ctC	p.L146L	SENP2_uc011brv.2_Silent_p.L136L|SENP2_uc011brw.2_5'UTR	NM_021627	NP_067640	Q9HC62	SENP2_HUMAN	Homo sapiens SUMO1/sentrin/SMT3 specific peptidase 2 (SENP2), mRNA.	146					Wnt receptor signaling pathway|mRNA transport|protein desumoylation|protein transport|proteolysis|regulation of Wnt receptor signaling pathway|transmembrane transport	cytoplasm|nuclear membrane|nuclear pore	SUMO-specific protease activity|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(3)	12	all_cancers(143;1.28e-10)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			GCAGAGTCCTGCCTTCCTTTG	0.373000														194			14		0	0	1	0	0
RASAL1	8437	broad.mit.edu	37	12	113553534	113553534	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:113553534C>A	uc001tun.2	-	10	1210	c.909G>T	c.(907-909)caG>caT	p.Q303H	RASAL1_uc010syp.2_Missense_Mutation_p.Q303H|RASAL1_uc001tul.3_Missense_Mutation_p.Q303H|RASAL1_uc001tum.2_Missense_Mutation_p.Q303H|RASAL1_uc010syq.2_Missense_Mutation_p.Q303H|RASAL1_uc001tuo.4_Missense_Mutation_p.Q303H|RASAL1_uc010syr.2_Missense_Mutation_p.Q303H	NM_001193520	NP_001180449	O95294	RASL1_HUMAN	Homo sapiens RAS protein activator like 1 (GAP1 like) (RASAL1), transcript variant 1, mRNA.	303	Ras-GAP.				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|metal ion binding|phospholipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						TGGCAAGGTCCTGGCGGCAGT	0.637000														43			11		4.3838e-07	5.01911e-07	1	1	0
ZNF83	55769	broad.mit.edu	37	19	53117236	53117236	+	Missense_Mutation	SNP	T	G	G	rs144975187		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:53117236T>G	uc002pzu.4	-	1	1826	c.582A>C	c.(580-582)caA>caC	p.Q194H	ZNF83_uc002pzv.4_Missense_Mutation_p.Q194H|ZNF83_uc010eps.3_Missense_Mutation_p.Q194H|ZNF83_uc010ept.3_Missense_Mutation_p.Q194H|ZNF83_uc010epu.3_Missense_Mutation_p.Q194H|ZNF83_uc010epw.3_Missense_Mutation_p.Q194H|ZNF83_uc010epv.3_Missense_Mutation_p.Q194H|ZNF83_uc010epx.3_Missense_Mutation_p.Q194H|ZNF83_uc010epy.3_Missense_Mutation_p.Q194H|ZNF83_uc010epz.3_Missense_Mutation_p.Q194H|ZNF83_uc010eqb.2_Missense_Mutation_p.Q194H|ZNF83_uc021uyx.1_Missense_Mutation_p.Q194H	NM_018300	NP_060770	P51522	ZNF83_HUMAN	Homo sapiens zinc finger protein 83 (ZNF83), transcript variant 5, mRNA.	194						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)		TTCTTTGATGTTGTGCAAGGT	0.378000														34			19		0	0	1	0	0
CNPY2	10330	broad.mit.edu	37	12	56708994	56708994	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56708994C>T	uc001sku.2	-	1	557	c.8G>A	c.(7-9)gGc>gAc	p.G3D	CNPY2_uc001skv.3_Missense_Mutation_p.G3D	NM_014255	NP_055070	Q9Y2B0	CNPY2_HUMAN	Homo sapiens canopy 2 homolog (zebrafish) (CNPY2), transcript variant 1, mRNA.	3						endoplasmic reticulum|integral to plasma membrane	protein binding			large_intestine(2)|lung(2)	4						CCAACCCCAGCCTTTCATCTT	0.577000														38			4		0	0	1	0	0
SERINC2	347735	broad.mit.edu	37	1	31899543	31899543	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:31899543C>T	uc021okm.1	+	6	953	c.680C>T	c.(679-681)gCg>gTg	p.A227V	SERINC2_uc010ogg.2_Missense_Mutation_p.A222V|SERINC2_uc001bst.3_Missense_Mutation_p.A218V|SERINC2_uc001bsu.3_Missense_Mutation_p.A163V|SERINC2_uc010ogh.2_Missense_Mutation_p.A222V	NM_001199038	NP_001185967	Q96SA4	SERC2_HUMAN	Homo sapiens serine incorporator 2 (SERINC2), transcript variant 4, mRNA.	218						integral to membrane				cervix(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	12		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0629)|Breast(348;0.0707)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0541)|READ - Rectum adenocarcinoma(331;0.151)		CTGTCGATCGCGGCCGTGGCG	0.597000														67			44		0	0	1	0	0
DEPDC1	55635	broad.mit.edu	37	1	68948463	68948463	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:68948463T>C	uc001dem.4	-	7	1145	c.1028A>G	c.(1027-1029)gAg>gGg	p.E343G	DEPDC1_uc001dej.4_5'Flank|DEPDC1_uc001dek.4_Non-coding_Transcript|DEPDC1_uc001del.4_Intron	NM_001114120	NP_001107592	Q5TB30	DEP1A_HUMAN	Homo sapiens DEP domain containing 1 (DEPDC1), transcript variant 1, mRNA.	343					intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	GTPase activator activity|protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)		AAGAAGGCACTCAGTTGATTT	0.348000														74			11		0	0	1	0	0
PPIEL	728448	broad.mit.edu	37	1	40011472	40011472	+	RNA	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:40011472C>A	uc001cdk.3	-	5		c.2112G>T								Homo sapiens peptidylprolyl isomerase E-like pseudogene (PPIEL), non-coding RNA.																		TGTTCCCAATCTTGATGTCCA	0.562000														12			9		2.17888e-05	2.40634e-05	1	1	0
H6PD	9563	broad.mit.edu	37	1	9305383	9305383	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:9305383C>T	uc001apt.3	+	1	663	c.390C>T	c.(388-390)caC>caT	p.H130H		NM_004285	NP_004276	O95479	G6PE_HUMAN	Homo sapiens hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase) (H6PD), mRNA.	130	Glucose 1-dehydrogenase.					endoplasmic reticulum lumen	6-phosphogluconolactonase activity|NADP binding|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)	NADH(DB00157)	AGCTCCAGCACGCAGGCCTCC	0.597000														70			13		0	0	1	0	0
ZDHHC17	23390	broad.mit.edu	37	12	77220687	77220687	+	Splice_Site	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:77220687G>T	uc001syk.1	+	9	1061	c.898_splice	c.e9-1	p.E300_splice	ZDHHC17_uc001syj.2_Splice_Site	NM_015336	NP_056151	Q8IUH5	ZDH17_HUMAN	Homo sapiens zinc finger, DHHC-type containing 17 (ZDHHC17), mRNA.	300					lipoprotein transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi-associated vesicle membrane|integral to membrane	magnesium ion transmembrane transporter activity|protein binding|protein-cysteine S-palmitoleyltransferase activity|signal transducer activity|zinc ion binding			breast(2)|endometrium(2)|large_intestine(3)|liver(2)|lung(14)	23						TTTCTATACAGGAATTTCGGC	0.358000														55			20		1.64293e-13	2.04531e-13	1	1	0
SNX14	57231	broad.mit.edu	37	6	86227481	86227481	+	Missense_Mutation	SNP	T	C	C	rs138417324		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:86227481T>C	uc003pkr.3	-	22	2454	c.2261A>G	c.(2260-2262)aAc>aGc	p.N754S	SNX14_uc003pkp.3_Missense_Mutation_p.N617S|SNX14_uc003pkq.3_Missense_Mutation_p.N360S|SNX14_uc011dzg.2_Missense_Mutation_p.N702S|SNX14_uc003pks.3_Missense_Mutation_p.N701S|SNX14_uc003pkt.3_Missense_Mutation_p.N745S	NM_153816	NP_722523	Q9Y5W7	SNX14_HUMAN	Homo sapiens sorting nexin 14 (SNX14), transcript variant 1, mRNA.	754					cell communication|protein transport	integral to membrane	phosphatidylinositol binding|signal transducer activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1)	22		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)		BRCA - Breast invasive adenocarcinoma(108;0.0423)		TACCTTCTTGTTGTTTTCTGA	0.348000														51			40		0	0	1	0	0
ZFX	7543	broad.mit.edu	37	X	24228932	24228932	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:24228932G>T	uc011mjv.2	+	9	2223	c.1974G>T	c.(1972-1974)gaG>gaT	p.E658D	ZFX_uc004dbd.2_Missense_Mutation_p.E619D|ZFX_uc004dbf.3_Missense_Mutation_p.E619D|ZFX_uc004dbe.3_3'UTR|ZFX_uc022bua.1_Missense_Mutation_p.E619D|ZFX_uc010nfx.2_Missense_Mutation_p.E390D|ZFX_uc010nfz.3_Missense_Mutation_p.E275D	NM_001178086	NP_001171557	P17010	ZFX_HUMAN	Homo sapiens zinc finger protein, X-linked (ZFX), transcript variant 4, mRNA.	619					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						ATACCAAAGAGGTGCAGCAAC	0.408000														68			40		2.2871e-25	2.99356e-25	1	1	0
SFMBT2	57713	broad.mit.edu	37	10	7409762	7409762	+	Silent	SNP	C	T	T	rs34359069		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:7409762C>T	uc009xio.2	-	3	376	c.285G>A	c.(283-285)acG>acA	p.T95T	SFMBT2_uc001ijn.2_Silent_p.T95T|SFMBT2_uc010qay.2_Silent_p.T95T|SFMBT2_uc001ijo.2_Silent_p.T95T	NM_001018039	NP_001018049	Q5VUG0	SMBT2_HUMAN	Homo sapiens Scm-like with four mbt domains 2 (SFMBT2), transcript variant 2, mRNA.	95					regulation of transcription, DNA-dependent	nucleus				NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						TGGTAATGATCGTGGCCACCC	0.542000														22			18		0	0	1	0	0
FBXW10	10517	broad.mit.edu	37	17	18681866	18681866	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:18681866C>A	uc002gul.3	+	11	2673	c.2441C>A	c.(2440-2442)tCt>tAt	p.S814Y	FBXW10_uc002guj.3_Missense_Mutation_p.S804Y|FBXW10_uc002guk.3_Missense_Mutation_p.S805Y|FBXW10_uc010cqh.2_Missense_Mutation_p.S752Y|FAM18B1_uc002gum.2_5'Flank	NM_031456	NP_113644	Q5XX13	FBW10_HUMAN	Homo sapiens F-box and WD repeat domain containing 10 (FBXW10), mRNA.	805										NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						AAGAAAAAGTCTTGGAAAATC	0.448000														15			12		0.00244969	0.00257145	1	1	0
FURIN	5045	broad.mit.edu	37	15	91424521	91424521	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:91424521G>A	uc002bpu.1	+	15	2014	c.1798G>A	c.(1798-1800)Gag>Aag	p.E600K		NM_002569	NP_002560	P09958	FURIN_HUMAN	Homo sapiens furin (paired basic amino acid cleaving enzyme) (FURIN), mRNA.	600	Cys-rich.				Notch signaling pathway|cell proliferation|negative regulation of low-density lipoprotein particle receptor catabolic process|negative regulation of transforming growth factor-beta1 production|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|peptide biosynthetic process|peptidyl-glutamic acid carboxylation|post-translational protein modification|secretion by cell|signal peptide processing|transforming growth factor beta receptor signaling pathway|viral assembly, maturation, egress, and release	Golgi lumen|Golgi membrane|cell surface|integral to membrane|membrane raft|plasma membrane|trans-Golgi network|trans-Golgi network transport vesicle	metal ion binding|nerve growth factor binding|peptide binding|protease binding|serine-type endopeptidase activity|serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(4)|endometrium(4)|large_intestine(3)|liver(2)|lung(13)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	36	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			GGCAGTGTGCGAGGAAGGCTT	0.607000														49			8		0	0	1	0	0
AMIGO2	347902	broad.mit.edu	37	12	47472640	47472640	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:47472640G>A	uc001rpm.3	-	2	801	c.146C>T	c.(145-147)aCt>aTt	p.T49I	FAM113B_uc001rpn.3_5'Flank|AMIGO2_uc001rpk.3_Missense_Mutation_p.T49I|AMIGO2_uc001rpl.3_Missense_Mutation_p.T49I|AMIGO2_uc021qxg.1_Missense_Mutation_p.T49I	NM_001143668	NP_862830	Q86SJ2	AMGO2_HUMAN	Homo sapiens adhesion molecule with Ig-like domain 2 (AMIGO2), transcript variant 1, mRNA.	49	LRRNT.				heterophilic cell-cell adhesion|homophilic cell adhesion	integral to membrane|nucleus|plasma membrane		p.A48T(1)		endometrium(2)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Renal(347;0.138)|Lung SC(27;0.192)					GACGATGTCAGTGGCACAGAT	0.547000														71			14		0	0	1	0	0
ANPEP	290	broad.mit.edu	37	15	90349357	90349357	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:90349357G>A	uc002bop.4	-	1	750	c.458C>T	c.(457-459)aCt>aTt	p.T153I		NM_001150	NP_001141	P15144	AMPN_HUMAN	Homo sapiens alanyl (membrane) aminopeptidase (ANPEP), mRNA.	153	Metalloprotease.				angiogenesis|cell differentiation|interspecies interaction between organisms	ER-Golgi intermediate compartment|cytosol|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)	CACCAGCTCAGTCTTGTCAAT	0.607000														39			16		0	0	1	0	0
C1S	716	broad.mit.edu	37	12	7177630	7177630	+	Missense_Mutation	SNP	G	A	A	rs150394565		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:7177630G>A	uc001qsj.3	+	14	2461	c.1742G>A	c.(1741-1743)cGc>cAc	p.R581H	C1S_uc001qsk.3_Missense_Mutation_p.R581H|C1S_uc001qsl.3_Missense_Mutation_p.R581H|C1S_uc009zfr.3_Missense_Mutation_p.R414H|C1S_uc009zfs.3_Non-coding_Transcript	NM_201442	NP_958850	P09871	C1S_HUMAN	Homo sapiens complement component 1, s subcomponent (C1S), transcript variant 1, mRNA.	581	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	CGTGCTGTTCGCCTCAAGGCG	0.522000														24			19		0	0	1	0	0
GRM3	2913	broad.mit.edu	37	7	86468230	86468230	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:86468230A>G	uc003uid.3	+	3	2499	c.1400A>G	c.(1399-1401)aAc>aGc	p.N467S	GRM3_uc010lef.3_Intron|GRM3_uc010leg.3_Missense_Mutation_p.N339S|GRM3_uc010leh.3_Missense_Mutation_p.N59S	NM_000840	NP_000831	Q14832	GRM3_HUMAN	Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.	467					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	GGGCGATACAACGTGTTCAAT	0.403000														19			23		0	0	1	0	0
RAD52	5893	broad.mit.edu	37	12	1023699	1023699	+	Splice_Site	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:1023699C>T	uc001qis.1	-	10	980	c.866_splice	c.e10-1	p.A289_splice	RAD52_uc001qit.1_Splice_Site|RAD52_uc010sdt.1_Splice_Site_p.A212_splice|RAD52_uc001qiu.1_Splice_Site_p.A289_splice|RAD52_uc001qiv.1_Splice_Site|RAD52_uc001qiw.1_Splice_Site	NM_134424	NP_602296	P43351	RAD52_HUMAN	Homo sapiens RAD52 homolog (S. cerevisiae) (RAD52), mRNA.	289					DNA recombinase assembly|mitotic recombination|reciprocal meiotic recombination	nucleoplasm	DNA binding|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	all_cancers(10;0.0119)|all_epithelial(11;0.0171)|all_lung(10;0.0521)|Ovarian(42;0.0816)|Lung NSC(10;0.0987)		OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.0323)			GGAGGCGCTGCTACGGTTCAC	0.527000								Homologous recombination						33			12		0	0	1	0	0
OTUD6A	139562	broad.mit.edu	37	X	69282892	69282892	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:69282892G>A	uc004dxu.1	+	0	552	c.518G>A	c.(517-519)cGc>cAc	p.R173H		NM_207320	NP_997203	Q7L8S5	OTU6A_HUMAN	Homo sapiens OTU domain containing 6A (OTUD6A), mRNA.	173	OTU.									autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(3)|urinary_tract(1)	23						CTGCGCTGCCGCACCGCCAGC	0.602000														13			4		0	0	1	0	0
MRPL51	51258	broad.mit.edu	37	12	6601555	6601555	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:6601555C>T	uc001qom.2	-	2	438	c.269G>A	c.(268-270)cGt>cAt	p.R90H	NCAPD2_uc009zen.1_5'Flank|NCAPD2_uc001qoo.2_5'Flank|NCAPD2_uc010sfd.1_5'Flank	NM_016497	NP_057581	Q4U2R6	RM51_HUMAN	Homo sapiens mitochondrial ribosomal protein L51 (MRPL51), nuclear gene encoding mitochondrial protein, mRNA.	90					translation	mitochondrial large ribosomal subunit	protein binding|structural constituent of ribosome			kidney(2)|large_intestine(1)|lung(3)	6						TCGGATACAACGTTGCAATTC	0.438000														173			128		0	0	1	0	0
UNC13B	10497	broad.mit.edu	37	9	35403967	35403967	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:35403967C>T	uc003zwr.3	+	39	5062	c.4770C>T	c.(4768-4770)gaC>gaT	p.D1590D	UNC13B_uc003zwq.3_Silent_p.D1571D|ATP8B5P_uc010mko.3_5'Flank|ATP8B5P_uc010mkp.3_5'Flank|ATP8B5P_uc010mkn.2_5'Flank|ATP8B5P_uc003zwu.2_5'Flank	NM_006377	NP_006368	O14795	UN13B_HUMAN	Homo sapiens unc-13 homolog B (C. elegans) (UNC13B), mRNA.	1571					excretion|induction of apoptosis|intracellular signal transduction	Golgi apparatus|cell junction|synapse	metal ion binding|receptor activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			GGAGCAATGACGAGGTGGCCC	0.552000														51			5		0	0	1	0	0
INTS3	65123	broad.mit.edu	37	1	153733342	153733342	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:153733342C>T	uc009wom.3	+	13	1578	c.1357C>T	c.(1357-1359)Cgg>Tgg	p.R453W	INTS3_uc001fct.3_Missense_Mutation_p.R453W|INTS3_uc001fcu.3_Missense_Mutation_p.R145W|INTS3_uc001fcv.3_Missense_Mutation_p.R247W|INTS3_uc010peb.2_Missense_Mutation_p.R247W|INTS3_uc001fcw.3_5'UTR|INTS3_uc010pec.2_Intron	NM_023015	NP_075391	Q68E01	INT3_HUMAN	Homo sapiens integrator complex subunit 3 (INTS3), mRNA.	454					DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing	SOSS complex|integrator complex	protein binding			breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GGGCCACGTGCGGCAGGGTGT	0.512000														93			14		0	0	1	0	0
WDR65	149465	broad.mit.edu	37	1	43675487	43675487	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:43675487T>C	uc021omk.1	+	10	1975	c.1829T>C	c.(1828-1830)tTt>tCt	p.F610S	EBNA1BP2_uc001cio.3_Intron|WDR65_uc010ojz.2_Missense_Mutation_p.F599S|WDR65_uc001ciq.2_Missense_Mutation_p.F610S|WDR65_uc001cip.2_Missense_Mutation_p.F610S	NM_001195831	NP_001182760	Q96MR6	WDR65_HUMAN	Homo sapiens WD repeat domain 65 (WDR65), transcript variant 5, mRNA.	610										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CGCATGATGTTTGTGGGCACC	0.537000														60			4		0	0	1	0	0
MFHAS1	9258	broad.mit.edu	37	8	8747988	8747988	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:8747988C>T	uc003wsj.1	-	0	3144	c.2581G>A	c.(2581-2583)Gca>Aca	p.A861T		NM_004225	NP_004216	Q9Y4C4	MFHA1_HUMAN	Homo sapiens malignant fibrous histiocytoma amplified sequence 1 (MFHAS1), mRNA.	861										endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1)	21		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.124)		CAGGCTTCTGCATGGGGCACC	0.488000														72			8		0	0	1	0	0
H6PD	9563	broad.mit.edu	37	1	9324806	9324806	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:9324806C>T	uc001apt.3	+	4	2527	c.2254C>T	c.(2254-2256)Cgt>Tgt	p.R752C		NM_004285	NP_004276	O95479	G6PE_HUMAN	Homo sapiens hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase) (H6PD), mRNA.	752	6-phosphogluconolactonase.					endoplasmic reticulum lumen	6-phosphogluconolactonase activity|NADP binding|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)	NADH(DB00157)	CAGGATGAAGCGTGAGATCAC	0.647000														18			7		0	0	1	0	0
WASF3	10810	broad.mit.edu	37	13	27250735	27250735	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:27250735A>C	uc001uqv.3	+	6	815	c.590A>C	c.(589-591)aAa>aCa	p.K197T	WASF3_uc001uqw.3_Intron	NM_006646	NP_006637	Q9UPY6	WASF3_HUMAN	Homo sapiens WAS protein family, member 3 (WASF3), mRNA.	197					actin filament polymerization	cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		AAGGTTAGAAAAGCCAGAAAC	0.488000														25			11		0	0	1	0	0
CHD7	55636	broad.mit.edu	37	8	61750301	61750301	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:61750301T>C	uc003xue.3	+	17	4752	c.4260T>C	c.(4258-4260)taT>taC	p.Y1420Y	CHD7_uc022aux.1_Intron	NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 7 (CHD7), mRNA.	1420	Helicase C-terminal.				T cell differentiation|central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|chromatin binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			GAAATTCCTATGAAAGGGAAA	0.393000														7			6		0	0	1	0	0
SPN	6693	broad.mit.edu	37	16	29676225	29676225	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:29676225C>T	uc021tgd.1	+	0	1176	c.1176C>T	c.(1174-1176)ccC>ccT	p.P392P	BOLA2_uc010bzb.1_Intron|SPN_uc002dtm.3_Silent_p.P392P|SPN_uc002dtn.3_Silent_p.P392P	NM_003123	NP_003114	P16150	LEUK_HUMAN	Homo sapiens sialophorin (SPN), transcript variant 2, mRNA.	392					blood coagulation|cellular defense response|chemotaxis|defense response to bacterium|establishment or maintenance of cell polarity|immune response|leukocyte migration|negative regulation of cell adhesion|positive regulation of tumor necrosis factor biosynthetic process	extracellular space|integral to plasma membrane	bacterial cell surface binding|transmembrane receptor activity			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|stomach(1)	15						CTGATGAGCCCGAAGGGGGAG	0.642000														20			5		0	0	1	0	0
THTPA	79178	broad.mit.edu	37	14	24026216	24026216	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:24026216G>A	uc001wkh.4	+	1	620	c.250G>A	c.(250-252)Gcg>Acg	p.A84T	THTPA_uc001wkb.4_Intron|THTPA_uc001wkg.4_Missense_Mutation_p.A84T|THTPA_uc010akr.3_Intron	NM_001126339	NP_077304	Q9BU02	THTPA_HUMAN	Homo sapiens thiamine triphosphatase (THTPA), transcript variant 2, mRNA.	84					dephosphorylation|generation of precursor metabolites and energy|thiamine metabolic process	cytosol|nucleolus|soluble fraction	thiamin-triphosphatase activity			large_intestine(1)|prostate(2)	3	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00643)	Thiamine(DB00152)	GGAACTCACAGCGGAACCTAC	0.602000														37			19		0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170013930	170013930	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:170013930G>T	uc002ues.3	-	63	12183	c.11970C>A	c.(11968-11970)tcC>tcA	p.S3990S		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	3990	EGF-like 14.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CAGCTGTACAGGAGCAGATAA	0.358000														26			14		4.36969e-10	5.24943e-10	1	1	0
FBXO30	84085	broad.mit.edu	37	6	146127055	146127055	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:146127055G>T	uc003qla.3	-	1	686	c.487C>A	c.(487-489)Cca>Aca	p.P163T	LOC100507557_uc003qky.2_Intron	NM_032145	NP_115521	Q8TB52	FBX30_HUMAN	Homo sapiens F-box protein 30 (FBXO30), mRNA.	163							ubiquitin-protein ligase activity|zinc ion binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26		Ovarian(120;0.0776)		OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149)		GGTATTTCTGGGACACTTGAT	0.393000														158			17		1.02788e-11	1.25893e-11	1	1	0
PRKCI	5584	broad.mit.edu	37	3	170002337	170002337	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:170002337C>A	uc003fgs.2	+	11	1394	c.1156C>A	c.(1156-1158)Ctg>Atg	p.L386M		NM_002740	NP_002731	P41743	KPCI_HUMAN	Homo sapiens protein kinase C, iota (PRKCI), mRNA.	386	Protein kinase.				anti-apoptosis|cellular membrane organization|cellular response to insulin stimulus|establishment or maintenance of epithelial cell apical/basal polarity|intracellular signal transduction|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|protein targeting to membrane|secretion|tight junction assembly|vesicle-mediated transport	cytosol|endosome|nucleus|polarisome	ATP binding|phospholipid binding|protein binding|protein kinase C activity|zinc ion binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	36	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			CAATGTATTACTGGACTCTGA	0.338000														63			6		0.00116845	0.00123466	1	1	0
CAMTA2	23125	broad.mit.edu	37	17	4883291	4883291	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:4883291G>T	uc010cku.2	-	8	1807	c.1395C>A	c.(1393-1395)ttC>ttA	p.F465L	CAMTA2_uc002gag.2_Missense_Mutation_p.F441L|CAMTA2_uc002gah.2_Missense_Mutation_p.F442L|CAMTA2_uc002gai.2_Missense_Mutation_p.F444L|CAMTA2_uc010ckv.1_Missense_Mutation_p.F89L|CAMTA2_uc010vsu.2_Missense_Mutation_p.F255L	NM_001171167	NP_001164638	O94983	CMTA2_HUMAN	Homo sapiens calmodulin binding transcription activator 2 (CAMTA2), transcript variant 4, mRNA.	442					cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						CTTGGATGAAGAAGCAGTTTC	0.642000														70			30		3.03874e-20	3.92096e-20	1	1	0
ZDHHC12	84885	broad.mit.edu	37	9	131484064	131484064	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:131484064G>A	uc004bvz.3	-	3	549	c.513C>T	c.(511-513)tgC>tgT	p.C171C	ZDHHC12_uc004bvy.3_Silent_p.C116C	NM_032799	NP_116188	Q96GR4	ZDH12_HUMAN	Homo sapiens zinc finger, DHHC-type containing 12 (ZDHHC12), mRNA.	116						integral to membrane	acyltransferase activity|zinc ion binding			central_nervous_system(1)|ovary(2)|upper_aerodigestive_tract(1)	4						CGCAACGGCGGCACTCACGGC	0.662000														54			38		0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57767778	57767778	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:57767778G>T	uc002yan.3	+	0	1704	c.1704G>T	c.(1702-1704)gaG>gaT	p.E568D		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	568						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CCGCGGTGGAGGACCTGCCAG	0.711000														8			11		0.000978159	0.00103832	1	1	0
GRK5	2869	broad.mit.edu	37	10	121184565	121184565	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:121184565T>C	uc001led.3	+	5	734	c.501T>C	c.(499-501)ttT>ttC	p.F167F	GRK5_uc009xzh.3_Silent_p.F62F|GRK5_uc010qta.1_Silent_p.F62F	NM_005308	NP_005299	P34947	GRK5_HUMAN	Homo sapiens G protein-coupled receptor kinase 5 (GRK5), mRNA.	167	N-terminal.|RGS.				G-protein signaling, coupled to cAMP nucleotide second messenger|regulation of G-protein coupled receptor protein signaling pathway|tachykinin receptor signaling pathway	cytoplasm|plasma membrane|soluble fraction	ATP binding|G-protein coupled receptor kinase activity|phospholipid binding|protein kinase C binding|signal transducer activity			endometrium(2)|large_intestine(5)|lung(15)|skin(3)|stomach(1)|urinary_tract(1)	27		Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249)		all cancers(201;0.0227)		GCATGTTTTTTGACCGCTTTC	0.463000														58			6		0	0	1	0	0
KIAA1432	57589	broad.mit.edu	37	9	5765701	5765701	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:5765701C>T	uc003zjl.4	+	19	3120	c.2929C>T	c.(2929-2931)Cga>Tga	p.R977*	KIAA1432_uc003zjh.3_Nonsense_Mutation_p.R935*|KIAA1432_uc003zji.3_Nonsense_Mutation_p.R935*|KIAA1432_uc003zjj.1_Nonsense_Mutation_p.R477*	NM_001206557	NP_001193486	Q4ADV7	RIC1_HUMAN	Homo sapiens KIAA1432 (KIAA1432), transcript variant 3, mRNA.	1014						integral to membrane				breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		CTTCAGGAATCGAAGCATCAG	0.428000														190			15		0	0	1	0	0
UBA7	7318	broad.mit.edu	37	3	49848098	49848098	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49848098G>A	uc003cxr.3	-	11	1490	c.1319C>T	c.(1318-1320)gCt>gTt	p.A440V		NM_003335	NP_003326	P41226	UBA7_HUMAN	Homo sapiens ubiquitin-like modifier activating enzyme 7 (UBA7), mRNA.	440	2 approximate repeats.				ISG15-protein conjugation|negative regulation of type I interferon production	cytosol	ATP binding|ISG15 activating enzyme activity|ligase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		AATGGCACCAGCGCCCACCTG	0.612000														105			51		0	0	1	0	0
FBN3	84467	broad.mit.edu	37	19	8161815	8161815	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:8161815C>T	uc002mjf.3	-	41	5380	c.5363G>A	c.(5362-5364)cGc>cAc	p.R1788H		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	1788	EGF-like 27; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	p.R1788L(2)		NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GCACTTGCAGCGGTAGCTACC	0.597000														58			5		0	0	1	0	0
AP2A2	161	broad.mit.edu	37	11	1006602	1006602	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:1006602G>A	uc001lst.2	+	16	2497	c.2284G>A	c.(2284-2286)Gac>Aac	p.D762N	AP2A2_uc009yco.2_Non-coding_Transcript|AP2A2_uc001lss.3_Missense_Mutation_p.D761N	NM_001242837	NP_001229766	O94973	AP2A2_HUMAN	Homo sapiens adaptor-related protein complex 2, alpha 2 subunit (AP2A2), transcript variant 1, mRNA.	761					axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|cytosol	lipid binding|protein transporter activity			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)	21		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)		AATCTGTTCAGACGACCTTCA	0.423000														42			47		0	0	1	0	0
PAPOLA	10914	broad.mit.edu	37	14	96998682	96998682	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:96998682G>A	uc001yfq.3	+	7	839	c.622G>A	c.(622-624)Gat>Aat	p.D208N	PAPOLA_uc001yfp.3_Missense_Mutation_p.D208N|PAPOLA_uc001yfo.3_3'UTR|PAPOLA_uc001yfr.3_Missense_Mutation_p.D208N|PAPOLA_uc010twv.2_Missense_Mutation_p.D208N|PAPOLA_uc010avp.3_5'UTR	NM_032632	NP_116021	P51003	PAPOA_HUMAN	Homo sapiens poly(A) polymerase alpha (PAPOLA), transcript variant 1, mRNA.	208				CRVTDEILHLVPNIDNFRLTLRAIKLWAKRHNIYS -> MR KPTSFCVLQFLSDISCFYTSFVLKLFIAILLTQ (in Ref. 2; CAD61935).	mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cytoplasm|nucleoplasm	ATP binding|RNA binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity			breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.213)		CAGGGTAACCGATGAAATTTT	0.348000														25			12		0	0	1	0	0
SLC9A7	84679	broad.mit.edu	37	X	46472781	46472781	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:46472781C>T	uc004dgu.1	-	15	1877	c.1869G>A	c.(1867-1869)acG>acA	p.T623T		NM_032591	NP_115980	Q96T83	SL9A7_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 7 (SLC9A7), mRNA.	623					regulation of pH	Golgi membrane|integral to membrane|recycling endosome membrane|trans-Golgi network	potassium:hydrogen antiporter activity|protein homodimerization activity|sodium:hydrogen antiporter activity	p.T622I(1)		breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|skin(1)	21						AGGCGGGGAGCGTGGTGGTTA	0.498000														74			6		0	0	1	0	0
TACC3	10460	broad.mit.edu	37	4	1746548	1746548	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:1746548G>A	uc003gdo.3	+	14	2595	c.2440G>A	c.(2440-2442)Gtg>Atg	p.V814M	TACC3_uc003gdp.3_Missense_Mutation_p.V454M	NM_006342	NP_006333	Q9Y6A5	TACC3_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 3 (TACC3), mRNA.	814						centrosome				central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			GGAGAAGACAGTGGAGCAGAA	0.657000														31			4		0	0	1	0	0
IKBKAP	8518	broad.mit.edu	37	9	111674654	111674654	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:111674654T>C	uc004bdm.4	-	10	1599	c.1079A>G	c.(1078-1080)cAt>cGt	p.H360R	IKBKAP_uc004bdl.3_Missense_Mutation_p.H11R|IKBKAP_uc011lwc.2_Missense_Mutation_p.H246R|IKBKAP_uc010mtq.3_Missense_Mutation_p.H11R	NM_003640	NP_003631	O95163	ELP1_HUMAN	Homo sapiens inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein (IKBKAP), mRNA.	360					immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	DNA-directed RNA polymerase II, holoenzyme|cytoplasm|nucleolus|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding|signal transducer activity			NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						ACAGAGAACATGCAGCCGGTA	0.512000														35			6		0	0	1	0	0
MED12	9968	broad.mit.edu	37	X	70349570	70349570	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:70349570A>G	uc004dyy.3	+	26	3931	c.3732A>G	c.(3730-3732)ggA>ggG	p.G1244G	MED12_uc011mpq.1_Silent_p.G1244G|MED12_uc004dyz.3_Silent_p.G1244G|MED12_uc004dza.3_Silent_p.G1091G|MED12_uc010nla.3_5'UTR	NM_005120	NP_005111	Q93074	MED12_HUMAN	Homo sapiens mediator complex subunit 12 (MED12), mRNA.	1244					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					CTGTGACAGGAGGAACAGAAG	0.582000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome				OREG0019857	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		3			5		0	0	1	0	0
THAP9	79725	broad.mit.edu	37	4	83838258	83838258	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:83838258G>T	uc003hnt.2	+	4	1012	c.893G>T	c.(892-894)aGt>aTt	p.S298I	THAP9_uc003hns.1_Missense_Mutation_p.S154I|THAP9_uc003hnu.1_Non-coding_Transcript|THAP9_uc003hnv.2_Missense_Mutation_p.S15I	NM_024672	NP_078948	Q9H5L6	THAP9_HUMAN	Homo sapiens THAP domain containing 9 (THAP9), mRNA.	298							DNA binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3)	33		Hepatocellular(203;0.114)				AGCAGTCACAGTTTGCAGGGG	0.418000														87			42		2.58029e-29	3.40062e-29	1	1	0
ODZ2	57451	broad.mit.edu	37	5	167675250	167675250	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:167675250C>T	uc010jjd.3	+	26	7279	c.7279C>T	c.(7279-7281)Cga>Tga	p.R2427*	ODZ2_uc003lzr.4_Nonsense_Mutation_p.R2197*|ODZ2_uc003lzt.4_Nonsense_Mutation_p.R1800*|ODZ2_uc010jje.3_Nonsense_Mutation_p.R1691*	NM_001122679	NP_001116151			Homo sapiens odz, odd Oz/ten-m homolog 2 (Drosophila) (ODZ2), mRNA.											NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|lung(45)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(2)	122	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		GCTGGCAGGACGATGGACCTC	0.537000														35			13		0	0	1	0	0
CYP4F11	57834	broad.mit.edu	37	19	16035646	16035646	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:16035646A>G	uc002nbu.2	-	5	608	c.572T>C	c.(571-573)aTg>aCg	p.M191T	CYP4F11_uc010eab.1_Missense_Mutation_p.M191T|CYP4F11_uc002nbt.2_Missense_Mutation_p.M191T	NM_001128932	NP_067010	Q9HBI6	CP4FB_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 11 (CYP4F11), transcript variant 2, mRNA.	191					inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						GTGTTCAAACATGTCCAGTCT	0.532000														20			12		0	0	1	0	0
CEP192	55125	broad.mit.edu	37	18	13052933	13052933	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:13052933C>A	uc010xac.2	+	17	3113	c.3033C>A	c.(3031-3033)tcC>tcA	p.S1011S	CEP192_uc010dlf.1_Non-coding_Transcript|CEP192_uc010xad.2_Silent_p.S536S|CEP192_uc002kru.3_Non-coding_Transcript|CEP192_uc002krv.3_5'Flank|CEP192_uc002krs.1_Silent_p.S752S	NM_032142	NP_115518	B7ZMF0	B7ZMF0_HUMAN	Homo sapiens centrosomal protein 192kDa (CEP192), mRNA.	606										NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						CGTTAGAGTCCTTTGGTTCAG	0.527000														162			19		2.70639e-06	3.05106e-06	1	1	0
TLR1	7096	broad.mit.edu	37	4	38799508	38799508	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:38799508C>T	uc003gtl.3	-	3	1219	c.945G>A	c.(943-945)ccG>ccA	p.P315P	TLR1_uc021xnn.1_Silent_p.P315P	NM_003263	NP_003254	Q15399	TLR1_HUMAN	Homo sapiens toll-like receptor 1 (TLR1), mRNA.	315	Interaction with bacterial lipopeptide.		P -> L (in dbSNP:rs5743613).		cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	Toll-like receptor 1-Toll-like receptor 2 protein complex|integral to plasma membrane|phagocytic vesicle membrane	protein heterodimerization activity|transmembrane receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						TATAACTTTGCGGAAAACCGA	0.418000														27			21		0	0	1	0	0
DOCK9	23348	broad.mit.edu	37	13	99532922	99532922	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:99532922G>A	uc001vnt.2	-	25	2808	c.2753C>T	c.(2752-2754)gCg>gTg	p.A918V	DOCK9_uc001vnw.2_Missense_Mutation_p.A917V|DOCK9_uc021rlw.1_Missense_Mutation_p.A917V|DOCK9_uc001vnv.1_Non-coding_Transcript|DOCK9_uc010tir.1_Missense_Mutation_p.A918V|DOCK9_uc010tis.1_Missense_Mutation_p.A917V|DOCK9_uc010tit.1_Missense_Mutation_p.A918V|DOCK9_uc010afu.1_Missense_Mutation_p.A764V	NM_015296	NP_056111	Q9BZ29	DOCK9_HUMAN	Homo sapiens dedicator of cytokinesis 9 (DOCK9), transcript variant 1, mRNA.	918					blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					AGCCTTATACGCGTACTTTGA	0.463000														12			3		0	0	1	0	0
URB2	9816	broad.mit.edu	37	1	229763385	229763385	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:229763385C>T	uc001hts.1	+	1	141	c.5C>T	c.(4-6)gCt>gTt	p.A2V	URB2_uc009xfd.1_Missense_Mutation_p.A2V|TAF5L_uc001htq.3_5'Flank|TAF5L_uc001htr.3_5'Flank	NM_014777	NP_055592	Q14146	URB2_HUMAN	Homo sapiens URB2 ribosome biogenesis 2 homolog (S. cerevisiae) (URB2), mRNA.	2						nucleolus				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						CTAGCCATGGCTGCTGTTTAT	0.378000														65			8		0	0	1	0	0
ZMYM4	9202	broad.mit.edu	37	1	35847203	35847203	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:35847203C>T	uc001byt.3	+	8	1493	c.1413C>T	c.(1411-1413)tgC>tgT	p.C471C	ZMYM4_uc009vuu.3_Silent_p.C439C|ZMYM4_uc001byu.3_Silent_p.C147C|ZMYM4_uc009vuv.3_Silent_p.C210C	NM_005095	NP_005086	Q5VZL5	ZMYM4_HUMAN	Homo sapiens zinc finger, MYM-type 4 (ZMYM4), mRNA.	471					multicellular organismal development		DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GTGATGCCTGCTTCTCTAAGT	0.428000														64			56		0	0	1	0	0
CDH11	1009	broad.mit.edu	37	16	65026832	65026832	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:65026832A>G	uc002eoi.3	-	4	1063	c.629T>C	c.(628-630)gTg>gCg	p.V210A	CDH11_uc010cdn.3_Non-coding_Transcript|CDH11_uc002eoj.3_Missense_Mutation_p.V210A|CDH11_uc010vin.2_Missense_Mutation_p.V84A	NM_001797	NP_001788	P55287	CAD11_HUMAN	Homo sapiens cadherin 11, type 2, OB-cadherin (osteoblast) (CDH11), mRNA.	210	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		CTGTGCTTCCACCGAAAAATA	0.443000			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)				58			6		0	0	1	0	0
GRIA4	2893	broad.mit.edu	37	11	105845055	105845055	+	Missense_Mutation	SNP	A	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:105845055A>T	uc001pix.2	+	15	2874	c.2428A>T	c.(2428-2430)Agc>Tgc	p.S810C	GRIA4_uc001piw.2_Missense_Mutation_p.S810C|GRIA4_uc010rvm.1_Non-coding_Transcript|GRIA4_uc009yxl.1_Non-coding_Transcript	NM_000829	NP_000820	P48058	GRIA4_HUMAN	Homo sapiens glutamate receptor, ionotrophic, AMPA 4 (GRIA4), transcript variant 1, mRNA.	810					glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	GAGTGCCTTGAGCCTGAGCAA	0.473000														109			11		0	0	1	0	0
RBL1	5933	broad.mit.edu	37	20	35627269	35627269	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:35627269C>A	uc002xgi.3	-	21	3179	c.3100G>T	c.(3100-3102)Gcc>Tcc	p.A1034S		NM_002895	NP_002886	P28749	RBL1_HUMAN	Homo sapiens retinoblastoma-like 1 (p107) (RBL1), transcript variant 1, mRNA.	1034					cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding			NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				CTATCGATGGCTATTACTCGC	0.423000														74			22		7.87624e-14	9.83087e-14	1	1	0
MGAT2	4247	broad.mit.edu	37	14	50088095	50088095	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:50088095C>A	uc001wwr.3	+	0	607	c.109C>A	c.(109-111)Ctc>Atc	p.L37I	NEMF_uc010anj.1_Intron|RPL36AL_uc001wwq.1_5'Flank|RPL36AL_uc021rsq.1_5'Flank	NM_002408	NP_002399	Q10469	MGAT2_HUMAN	Homo sapiens mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase (MGAT2), mRNA.	37					oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)	11	all_epithelial(31;0.0021)|Breast(41;0.0124)					GAACGAGGCCCTCGCCCCACC	0.682000														10			8		5.18039e-06	5.80246e-06	1	1	0
HTATSF1	27336	broad.mit.edu	37	X	135581814	135581814	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:135581814G>A	uc004ezw.3	+	2	666	c.244G>A	c.(244-246)Gca>Aca	p.A82T	HTATSF1_uc004ezx.3_Missense_Mutation_p.A82T	NM_001163280	NP_055315	O43719	HTSF1_HUMAN	Homo sapiens HIV-1 Tat specific factor 1 (HTATSF1), transcript variant 1, mRNA.	82					regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication	nucleus	RNA binding|nucleotide binding|protein binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30	Acute lymphoblastic leukemia(192;0.000127)					TAACGATGGCGCATCTAGTTC	0.448000														93			48		0	0	1	0	0
HIST1H2BJ	8970	broad.mit.edu	37	6	27100169	27100169	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:27100169T>C	uc003niv.3	-	0	407	c.361A>G	c.(361-363)Aag>Gag	p.K121E	HIST1H2BJ_uc003niu.1_Intron|HIST1H2AG_uc003niw.3_5'Flank	NM_021058	NP_066402	P06899	H2B1J_HUMAN	Homo sapiens histone cluster 1, H2bj (HIST1H2BJ), mRNA.	121					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|kidney(2)|lung(5)|ovary(1)|prostate(1)	10						CTGGTGTACTTGGTGACGGCC	0.562000														36			19		0	0	1	0	0
NPC1L1	29881	broad.mit.edu	37	7	44579468	44579468	+	Silent	SNP	G	A	A	rs114482489	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:44579468G>A	uc003tlb.3	-	1	584	c.528C>T	c.(526-528)cgC>cgT	p.R176R	NPC1L1_uc011kbw.2_Silent_p.R176R|NPC1L1_uc003tlc.3_Silent_p.R176R|NPC1L1_uc003tld.3_Silent_p.R176R	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN	Homo sapiens NPC1 (Niemann-Pick disease, type C1, gene)-like 1 (NPC1L1), transcript variant 1, mRNA.	176					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding	p.R176L(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	CTGCAGGGACGCGCACACGGC	0.622000														45			18		0	0	1	0	0
EMP1	2012	broad.mit.edu	37	12	13366719	13366719	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:13366719C>T	uc001rbr.3	+	3	527	c.280C>T	c.(280-282)Cgg>Tgg	p.R94W	EMP1_uc009zhy.3_Missense_Mutation_p.R27W|EMP1_uc010shr.1_Missense_Mutation_p.R94W	NM_001423	NP_001414	P54849	EMP1_HUMAN	Homo sapiens epithelial membrane protein 1 (EMP1), mRNA.	94					cell growth|cell proliferation|epidermis development	integral to membrane|membrane fraction							Prostate(47;0.194)		BRCA - Breast invasive adenocarcinoma(232;0.153)		GAAGGGAAACCGGTTCTTCCT	0.498000														59			37		0	0	1	0	0
NBPF1	55672	broad.mit.edu	37	1	16901153	16901153	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:16901153C>T	uc009vos.1	-	20	3115	c.2227G>A	c.(2227-2229)Gag>Aag	p.E743K	NBPF1_uc009vot.1_Missense_Mutation_p.E201K|NBPF1_uc001ayz.1_Missense_Mutation_p.E201K|NBPF1_uc010oce.1_Missense_Mutation_p.E472K	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 1 (NBPF1), mRNA.	743	NBPF 3.					cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		AGTGAGTCCTCAGGGACTTCC	0.493000														376			54		0	0	1	0	0
ATRNL1	26033	broad.mit.edu	37	10	117040979	117040979	+	Nonsense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:117040979G>T	uc001lcg.3	+	13	2601	c.2215G>T	c.(2215-2217)Gaa>Taa	p.E739*		NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN	Homo sapiens attractin-like 1 (ATRNL1), mRNA.	739	PSI 3.					integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		GAGACAGCAAGAATGCCAGGC	0.358000														44			30		8.4185e-14	1.05054e-13	1	1	0
SEMA3E	9723	broad.mit.edu	37	7	83119465	83119465	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:83119465G>T	uc003uhy.2	-	1	862	c.241C>A	c.(241-243)Ctc>Atc	p.L81I	SEMA3E_uc022agy.1_Missense_Mutation_p.L21I	NM_012431	NP_001171600	O15041	SEM3E_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E (SEMA3E), transcript variant 1, mRNA.	81	Sema.				axon guidance	extracellular space|membrane	receptor activity			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				TCCAAGCTGAGGGAATATACA	0.403000														70			5		2.0095e-06	2.27092e-06	1	1	0
LECT1	11061	broad.mit.edu	37	13	53282703	53282703	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:53282703A>C	uc001vhf.2	-	5	868	c.757T>G	c.(757-759)Tca>Gca	p.S253A	LECT1_uc001vhg.2_Missense_Mutation_p.S253A|LECT1_uc001vhh.2_Missense_Mutation_p.S242A	NM_007015	NP_008946	O75829	LECT1_HUMAN	Homo sapiens leukocyte cell derived chemotaxin 1 (LECT1), transcript variant 1, mRNA.	253					cartilage development|proteoglycan metabolic process	endomembrane system|extracellular region|integral to membrane		p.D252N(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	15		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.38e-08)		AAGGCTTGTGAGTCCTCTTGA	0.468000														42			18		0	0	1	0	0
SOS1	6654	broad.mit.edu	37	2	39224152	39224152	+	Nonsense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:39224152C>A	uc002rrk.4	-	18	3033	c.2992G>T	c.(2992-2994)Gga>Tga	p.G998*	SOS1_uc002rrj.4_Nonsense_Mutation_p.G612*	NM_005633	NP_005624	Q07889	SOS1_HUMAN	Homo sapiens son of sevenless homolog 1 (Drosophila) (SOS1), mRNA.	998	Ras-GEF.				Ras protein signal transduction|apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	cytosol	DNA binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				ATGCTATTTCCCATCGGATTC	0.299000									Noonan syndrome					28			14		0.000219431	0.000236831	1	1	0
ZNF48	197407	broad.mit.edu	37	16	30409126	30409126	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:30409126C>A	uc002dya.2	+	1	931	c.555C>A	c.(553-555)atC>atA	p.I185I	ZNF48_uc021tgi.1_Silent_p.I185I|ZNF48_uc021tgj.1_Silent_p.I62I|ZNF48_uc021tgk.1_Silent_p.I185I	NM_152652	NP_001201836	Q96MX3	ZNF48_HUMAN	Homo sapiens zinc finger protein 48 (ZNF48), transcript variant 1, mRNA.	185					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)|pancreas(1)|skin(1)	21						GGTCCCGGATCCCTGCTGGTG	0.607000														48			14		6.31663e-08	7.34157e-08	1	1	0
CDHR2	54825	broad.mit.edu	37	5	176017138	176017138	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:176017138C>A	uc021yie.1	+	24	3540	c.3266C>A	c.(3265-3267)tCt>tAt	p.S1089Y	CDHR2_uc003mem.2_Missense_Mutation_p.S1089Y|CDHR2_uc003men.1_Missense_Mutation_p.S1089Y	NM_001171976	NP_060145	Q9BYE9	CDHR2_HUMAN	Homo sapiens cadherin-related family member 2 (CDHR2), transcript variant 1, mRNA.	1089					homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						GACATAGATTCTGCAGCTCGG	0.582000														160			122		6.25825e-54	8.34515e-54	1	1	0
PCDHGC5	56097	broad.mit.edu	37	5	140740498	140740498	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140740498G>A	uc003ljs.2	+	0	796	c.796G>A	c.(796-798)Gcc>Acc	p.A266T	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc011dar.2_Missense_Mutation_p.A266T	NM_018923	NP_061746	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 2 (PCDHGB2), transcript variant 1, mRNA.	266	Cadherin 3.				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)			TCAAGTGACAGCCACCGACCG	0.507000														18			22		0	0	1	0	0
SBDS	51119	broad.mit.edu	37	7	66459326	66459326	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:66459326T>C	uc003tvm.1	-	1	315	c.131A>G	c.(130-132)gAa>gGa	p.E44G	TYW1_uc003tvn.3_5'Flank|TYW1_uc010lai.3_5'Flank	NM_016038	NP_057122	Q9Y3A5	SBDS_HUMAN	Homo sapiens Shwachman-Bodian-Diamond syndrome (SBDS), mRNA.	44			E -> G (in SDS).		bone marrow development|bone mineralization|leukocyte chemotaxis|mature ribosome assembly|mitotic spindle stabilization|positive regulation of translation|rRNA processing|ribosomal large subunit biogenesis	cytoplasm|nucleolus|nucleoplasm|spindle pole	microtubule binding|rRNA binding|ribosome binding			cervix(1)|endometrium(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	7						GAGGTCTTTTTCCCTTGTGAG	0.413000			Gene Conversion			"""AML, MDS"""			Shwachman-Diamond syndrome					93			10		0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196728882	196728882	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:196728882G>A	uc002utj.4	-	40	7598	c.7497C>T	c.(7495-7497)gaC>gaT	p.D2499D		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	2499	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CCTGAAACCAGTCAATGGTAC	0.398000														23			22		0	0	1	0	0
PPIP5K2	23262	broad.mit.edu	37	5	102474096	102474096	+	Missense_Mutation	SNP	T	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:102474096T>A	uc003kod.4	+	4	929	c.410T>A	c.(409-411)gTa>gAa	p.V137E	PPIP5K2_uc011cva.2_Non-coding_Transcript|PPIP5K2_uc003koe.3_Missense_Mutation_p.V137E|PPIP5K2_uc010jbo.2_Missense_Mutation_p.V59E	NM_015216	NP_056031	O43314	VIP2_HUMAN	Homo sapiens diphosphoinositol pentakisphosphate kinase 2 (PPIP5K2), mRNA.	137					inositol metabolic process	cytosol	ATP binding|acid phosphatase activity|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						AGGAGAGAAGTATATAGTATT	0.308000														53			5		0	0	1	0	0
ANAPC10	10393	broad.mit.edu	37	4	145916607	145916607	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:145916607T>C	uc003iju.4	-	5	631	c.476A>G	c.(475-477)tAc>tGc	p.Y159C	ANAPC10_uc003ijv.4_Missense_Mutation_p.Y159C|ANAPC10_uc003ijw.4_Missense_Mutation_p.Y159C	NM_014885	NP_055700	Q9UM13	APC10_HUMAN	Homo sapiens anaphase promoting complex subunit 10 (ANAPC10), mRNA.	159	DOC.				G2/M transition of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	ubiquitin-protein ligase activity			endometrium(1)|large_intestine(3)|lung(1)|skin(1)	6	all_hematologic(180;0.151)					TACTGGTGTGTATATTTTAAT	0.358000														84			41		0	0	1	0	0
NEXN	91624	broad.mit.edu	37	1	78392297	78392297	+	Splice_Site	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:78392297G>A	uc001dic.4	+	7	984	c.687_splice	c.e7+1	p.M229_splice	NEXN_uc001dia.3_Splice_Site_p.M215_splice|NEXN_uc009wcb.1_Splice_Site_p.M151_splice|NEXN_uc001dib.4_Splice_Site_p.M165_splice|NEXN_uc001did.1_Splice_Site_p.M139_splice|NEXN_uc001dif.1_Splice_Site_p.M121_splice	NM_144573	NP_653174	Q0ZGT2	NEXN_HUMAN	Homo sapiens nexilin (F actin binding protein) (NEXN), transcript variant 1, mRNA.	229	Glu-rich.				regulation of cell migration|regulation of cytoskeleton organization	Z disc|cytoskeleton	actin filament binding|structural constituent of muscle			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				Colorectal(170;0.114)		ATTAGTTATGGTAAATTTTTG	0.323000														59			84		0	0	1	0	0
MBD5	55777	broad.mit.edu	37	2	149240918	149240918	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:149240918A>G	uc002twm.4	+	9	3755	c.2758A>G	c.(2758-2760)Agt>Ggt	p.S920G	MBD5_uc010zbs.2_Non-coding_Transcript|MBD5_uc002two.3_5'Flank|MBD5_uc002twp.3_5'Flank	NM_018328	NP_060798	Q9P267	MBD5_HUMAN	Homo sapiens methyl-CpG binding domain protein 5 (MBD5), mRNA.	920						chromosome|nucleus	DNA binding|chromatin binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		CAGCCTCCTCAGTTCTCTACC	0.463000														151			13		0	0	1	0	0
LRP2BP	55805	broad.mit.edu	37	4	186288381	186288381	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:186288381C>T	uc003ixj.2	-	7	1809	c.997G>A	c.(997-999)Gca>Aca	p.A333T	SNX25_uc003ixi.3_Intron|LRP2BP_uc003ixk.2_Missense_Mutation_p.A307T	NM_018409	NP_060879	Q9P2M1	LR2BP_HUMAN	Homo sapiens LRP2 binding protein (LRP2BP), mRNA.	333						cytoplasm	protein binding	p.P332P(1)		breast(1)|endometrium(2)|large_intestine(6)|lung(3)|prostate(1)|skin(2)	15		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;2.14e-25)|Epithelial(43;1.55e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-11)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000766)|Colorectal(24;0.00116)|LUSC - Lung squamous cell carcinoma(40;0.00904)|COAD - Colon adenocarcinoma(29;0.0101)|READ - Rectum adenocarcinoma(43;0.161)		TCTGCCAATGCGGGATTCAGA	0.323000														71			49		0	0	1	0	0
RRM1	6240	broad.mit.edu	37	11	4148393	4148393	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:4148393A>C	uc001lyw.4	+	13	1918	c.1599A>C	c.(1597-1599)gaA>gaC	p.E533D	RRM1_uc009yej.2_Non-coding_Transcript|RRM1_uc009yei.3_Missense_Mutation_p.E493D|RRM1_uc010qyc.2_Missense_Mutation_p.E436D|RRM1_uc010qyd.2_Missense_Mutation_p.E195D	NM_001033	NP_001024	P23921	RIR1_HUMAN	Homo sapiens ribonucleotide reductase M1 (RRM1), mRNA.	533					DNA replication|deoxyribonucleotide biosynthetic process|nucleobase, nucleoside and nucleotide interconversion	cytosol|nucleoplasm|ribonucleoside-diphosphate reductase complex	ATP binding|ribonucleoside-diphosphate reductase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)	14		Medulloblastoma(188;0.0025)|Breast(177;0.00502)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0848)|LUSC - Lung squamous cell carcinoma(625;0.205)	Clofarabine(DB00631)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Hydroxyurea(DB01005)	AGATCTTTGAAACTATTTATT	0.463000														46			38		0	0	1	0	0
CLIP2	7461	broad.mit.edu	37	7	73770800	73770800	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:73770800C>T	uc003uam.3	+	4	1191	c.864C>T	c.(862-864)atC>atT	p.I288I	CLIP2_uc003uan.3_Silent_p.I288I	NM_003388	NP_003379	Q9UDT6	CLIP2_HUMAN	Homo sapiens CAP-GLY domain containing linker protein 2 (CLIP2), transcript variant 1, mRNA.	288						microtubule associated complex				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						TGATCCGTATCGGCTTCCCAT	0.587000														86			8		0	0	1	0	0
IPMK	253430	broad.mit.edu	37	10	59986875	59986875	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:59986875C>T	uc001jkb.3	-	2	625	c.302G>A	c.(301-303)gGt>gAt	p.G101D		NM_152230	NP_689416	Q8NFU5	IPMK_HUMAN	Homo sapiens inositol polyphosphate multikinase (IPMK), mRNA.	101						nucleus	ATP binding|inositol trisphosphate 6-kinase activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)	22						TAGAAGAACACCATCAAAACA	0.358000														42			17		0	0	1	0	0
CCDC82	79780	broad.mit.edu	37	11	96117716	96117716	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:96117716C>T	uc001pfx.4	-	3	410	c.196G>A	c.(196-198)Gag>Aag	p.E66K	CCDC82_uc009ywp.3_Missense_Mutation_p.E66K|CCDC82_uc009ywr.3_Missense_Mutation_p.E66K|CCDC82_uc009yws.3_Missense_Mutation_p.E66K	NM_024725	NP_079001	Q8N4S0	CCD82_HUMAN	Homo sapiens coiled-coil domain containing 82 (CCDC82), mRNA.	66							protein binding	p.E65E(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.154)		CTATCAAGCTCTTCATCATTT	0.338000														50			50		0	0	1	0	0
TCHH	7062	broad.mit.edu	37	1	152082939	152082939	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:152082939G>A	uc009wne.1	-	2	3026	c.2754C>T	c.(2752-2754)cgC>cgT	p.R918R	TCHH_uc001ezp.2_Silent_p.R918R	NM_007113	NP_009044	Q07283	TRHY_HUMAN	Homo sapiens trichohyalin (TCHH), mRNA.	918	10 X 30 AA tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTCTCTTCTCGCGCTCCTCTC	0.592000														83			88		0	0	1	0	0
CDC42BPA	8476	broad.mit.edu	37	1	227223260	227223260	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:227223260G>T	uc001hqr.3	-	23	4086	c.3143C>A	c.(3142-3144)aCt>aAt	p.T1048N	CDC42BPA_uc001hqq.3_Missense_Mutation_p.T347N|CDC42BPA_uc001hqs.3_Missense_Mutation_p.T967N|CDC42BPA_uc009xes.3_Missense_Mutation_p.T1020N|CDC42BPA_uc010pvs.2_Missense_Mutation_p.T1028N|CDC42BPA_uc001hqp.3_Missense_Mutation_p.T204N|CDC42BPA_uc001hqt.2_5'Flank|CDC42BPA_uc001hqu.1_Missense_Mutation_p.T255N	NM_003607	NP_003598	Q5VT25	MRCKA_HUMAN	Homo sapiens CDC42 binding protein kinase alpha (DMPK-like) (CDC42BPA), transcript variant B, mRNA.	1061					actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				AACTGGACAAGTGGTTGGAGC	0.378000														83			7		5.18039e-06	5.80246e-06	1	1	0
SLC45A1	50651	broad.mit.edu	37	1	8386014	8386014	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:8386014G>A	uc001apb.3	+	2	627	c.627G>A	c.(625-627)tcG>tcA	p.S209S		NM_001080397	NP_001073866	Q9Y2W3	S45A1_HUMAN	Homo sapiens solute carrier family 45, member 1 (SLC45A1), mRNA.	209					carbohydrate transport	integral to membrane	symporter activity	p.S209S(2)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		GCGCCGACTCGGCGGACAACC	0.657000														82			12		0	0	1	0	0
DGCR8	54487	broad.mit.edu	37	22	20073770	20073770	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:20073770G>T	uc002zri.3	+	1	713	c.284G>T	c.(283-285)aGc>aTc	p.S95I	DGCR8_uc010grz.3_Missense_Mutation_p.S95I|DGCR8_uc002zrj.3_5'Flank	NM_022720	NP_073557	Q8WYQ5	DGCR8_HUMAN	Homo sapiens DiGeorge syndrome critical region gene 8 (DGCR8), transcript variant 1, mRNA.	95	Necessary for interaction with NCL.|Necessary for nuclear localization and retention.				primary miRNA processing	cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding			NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					AGTGGCCACAGCCCGCGCACC	0.572000														37			11		0.00010058	0.000109296	1	1	0
ZNF516	9658	broad.mit.edu	37	18	74091873	74091873	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:74091873G>A	uc021ulp.1	-	3	2515	c.2197C>T	c.(2197-2199)Cta>Tta	p.L733L	ZNF516_uc002lmd.3_Non-coding_Transcript	NM_014643	NP_055458	Q92618	ZN516_HUMAN	Homo sapiens zinc finger protein 516 (ZNF516), mRNA.	733					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		CTTAAATCTAGCGGCATGAGG	0.612000														31			5		0	0	1	0	0
APLP2	334	broad.mit.edu	37	11	129996708	129996708	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:129996708C>T	uc010sby.2	+	7	1361	c.1204C>T	c.(1204-1206)Cgc>Tgc	p.R402C	APLP2_uc001qfp.3_Missense_Mutation_p.R402C|APLP2_uc001qfq.3_Missense_Mutation_p.R346C|APLP2_uc010sbz.2_Missense_Mutation_p.R190C|APLP2_uc001qfr.3_Missense_Mutation_p.R168C|APLP2_uc001qfs.3_Missense_Mutation_p.R173C|APLP2_uc021qsg.1_Missense_Mutation_p.R412C|APLP2_uc001qfv.3_Missense_Mutation_p.R293C	NM_001642	NP_001633	Q06481	APLP2_HUMAN	Homo sapiens amyloid beta (A4) precursor-like protein 2 (APLP2), transcript variant 1, mRNA.	402					G-protein coupled receptor protein signaling pathway	integral to membrane|nucleus|plasma membrane	DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)		GATTCGGCACCGCAACCGAAT	0.458000														73			37		0	0	1	0	0
P4HTM	54681	broad.mit.edu	37	3	49043537	49043537	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49043537G>A	uc003cvh.3	+	7	1737	c.1388G>A	c.(1387-1389)aGg>aAg	p.R463K	P4HTM_uc003cvg.3_Missense_Mutation_p.R402K|WDR6_uc011bbx.1_5'Flank|WDR6_uc003cvj.2_5'Flank|WDR6_uc011bby.1_5'Flank|WDR6_uc010hkn.2_5'Flank|WDR6_uc011bbz.1_5'Flank	NM_177938	NP_808807	Q9NXG6	P4HTM_HUMAN	Homo sapiens prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum) (P4HTM), transcript variant 3, mRNA.	402						endoplasmic reticulum membrane|integral to membrane	L-ascorbic acid binding|calcium ion binding|iron ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.P462>?(1)		NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21					Vitamin C(DB00126)	GACACACGGAGGCACTGTGAC	0.597000														65			42		0	0	1	0	0
NEBL	10529	broad.mit.edu	37	10	21101818	21101818	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:21101818C>T	uc001iqi.3	-	23	2795	c.2398G>A	c.(2398-2400)Gtc>Atc	p.V800I	NEBL_uc001iqj.3_Non-coding_Transcript|NEBL_uc001iqk.3_Missense_Mutation_p.V137I|NEBL_uc021pnu.1_Missense_Mutation_p.V137I	NM_006393	NP_006384	O76041	NEBL_HUMAN	Homo sapiens nebulette (NEBL), transcript variant 1, mRNA.	800					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TCGTCCACGACGGGAGTAAAG	0.458000														46			7		0	0	1	0	0
DFFA	1676	broad.mit.edu	37	1	10521672	10521672	+	Missense_Mutation	SNP	G	A	A	rs17856222		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:10521672G>A	uc001arj.3	-	5	969	c.871C>T	c.(871-873)Cgg>Tgg	p.R291W	DFFA_uc001ark.3_3'UTR	NM_004401	NP_004392	O00273	DFFA_HUMAN	Homo sapiens DNA fragmentation factor, 45kDa, alpha polypeptide (DFFA), transcript variant 1, mRNA.	291				R -> W (in Ref. 7; AAH07721).	DNA fragmentation involved in apoptotic nuclear change|intracellular signal transduction|negative regulation of apoptosis	cytosol|mitochondrion|nucleoplasm|plasma membrane	deoxyribonuclease activity|identical protein binding			large_intestine(3)|lung(2)	5	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.25e-07)|COAD - Colon adenocarcinoma(227;7.25e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000296)|Kidney(185;0.00074)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0487)		GCGAGCTCCCGCTCACAGGCC	0.562000														49			7		0	0	1	0	0
FBXO39	162517	broad.mit.edu	37	17	6683425	6683425	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:6683425T>C	uc010vtg.2	+	1	358	c.238T>C	c.(238-240)Tgg>Cgg	p.W80R		NM_153230	NP_694962	Q8N4B4	FBX39_HUMAN	Homo sapiens F-box protein 39 (FBXO39), mRNA.	80										NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	26						GTCAGCTGTTTGGTATGTTAA	0.478000														131			7		0	0	1	0	0
COBL	23242	broad.mit.edu	37	7	51095935	51095935	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:51095935T>C	uc003tps.3	-	10	3214	c.3029A>G	c.(3028-3030)gAg>gGg	p.E1010G	COBL_uc003tpr.4_Missense_Mutation_p.E953G|COBL_uc011kcl.2_Missense_Mutation_p.E953G|COBL_uc003tpp.4_Missense_Mutation_p.E739G|COBL_uc003tpq.4_Missense_Mutation_p.E894G|COBL_uc003tpo.4_Missense_Mutation_p.E495G	NM_015198	NP_056013	O75128	COBL_HUMAN	Homo sapiens cordon-bleu homolog (mouse) (COBL), mRNA.	953										NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					GCCAATGACCTCCCCCCTAGG	0.567000														50			11		0	0	1	0	0
SEC24C	9632	broad.mit.edu	37	10	75525908	75525908	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:75525908G>T	uc001juw.3	+	11	1727	c.1547G>T	c.(1546-1548)aGg>aTg	p.R516M	SEC24C_uc010qkn.2_Intron|SEC24C_uc009xrj.2_Missense_Mutation_p.R374M|SEC24C_uc001jux.3_Missense_Mutation_p.R516M|SEC24C_uc010qko.2_Missense_Mutation_p.R397M|SEC24C_uc010qkp.2_Intron|SEC24C_uc010qkq.2_Intron	NM_004922	NP_940999	P53992	SC24C_HUMAN	Homo sapiens SEC24 family, member C (S. cerevisiae) (SEC24C), transcript variant 1, mRNA.	516					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|Golgi membrane|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					AATGCCATCAGGACTGGTCTT	0.473000														90			16		3.52763e-06	3.96648e-06	1	1	0
GPN1	11321	broad.mit.edu	37	2	27861864	27861864	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:27861864G>A	uc010ymc.2	+	8	746	c.725G>A	c.(724-726)aGc>aAc	p.S242N	GPN1_uc010ezf.3_Missense_Mutation_p.S216N|GPN1_uc010yma.2_Missense_Mutation_p.S149N|GPN1_uc010ymb.2_Missense_Mutation_p.S133N|GPN1_uc010ymd.2_Missense_Mutation_p.S123N|GPN1_uc010ezg.1_Missense_Mutation_p.S123N	NM_007266	NP_001138520	Q9HCN4	GPN1_HUMAN	Homo sapiens GPN-loop GTPase 1 (GPN1), transcript variant 1, mRNA.	228						cytoplasm	GTP binding|nucleoside-triphosphatase activity|protein binding			endometrium(1)|large_intestine(1)|lung(12)	14						CGTTCAATGAGCCTGGTGTTA	0.453000														51			27		0	0	1	0	0
SOCS4	122809	broad.mit.edu	37	14	55511019	55511019	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:55511019G>T	uc021rti.1	+	0	1260	c.1260G>T	c.(1258-1260)aaG>aaT	p.K420N	SOCS4_uc001xbo.3_Missense_Mutation_p.K420N|SOCS4_uc001xbp.3_Missense_Mutation_p.K420N	NM_199421	NP_955453	Q8WXH5	SOCS4_HUMAN	Homo sapiens suppressor of cytokine signaling 4 (SOCS4), transcript variant 1, mRNA.	420	SOCS box.				intracellular signal transduction|negative regulation of signal transduction|regulation of growth					central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	14						TATATCTGAAGGAATATCATT	0.348000														39			8		1.06961e-07	1.2399e-07	1	1	0
ARRDC4	91947	broad.mit.edu	37	15	98514380	98514380	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:98514380A>G	uc010bom.3	+	7	1379	c.1220A>G	c.(1219-1221)gAc>gGc	p.D407G	ARRDC4_uc002bui.4_Missense_Mutation_p.D320G	NM_183376	NP_899232	Q8NCT1	ARRD4_HUMAN	Homo sapiens arrestin domain containing 4 (ARRDC4), mRNA.	407					signal transduction					breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|skin(3)	16	Melanoma(26;0.00539)|Lung NSC(78;0.0125)|all_lung(78;0.0222)		OV - Ovarian serous cystadenocarcinoma(32;0.0417)			CATCCTAGCGACGTAGAAGAG	0.383000														96			45		0	0	1	0	0
KDM1B	221656	broad.mit.edu	37	6	18215283	18215283	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:18215283G>A	uc003nco.1	+	12	1621	c.1546G>A	c.(1546-1548)Gca>Aca	p.A516T	KDM1B_uc003ncn.1_Missense_Mutation_p.A487T|KDM1B_uc003ncp.1_Missense_Mutation_p.A72T|KDM1B_uc003ncq.1_Missense_Mutation_p.A72T	NM_153042	NP_694587	Q8NB78	KDM1B_HUMAN	Homo sapiens lysine (K)-specific demethylase 1B (KDM1B), mRNA.	719					multicellular organismal development|regulation of DNA methylation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-monomethyl-K4 specific)|oxidoreductase activity|zinc ion binding			breast(2)|endometrium(5)|large_intestine(6)|lung(8)|skin(3)|upper_aerodigestive_tract(1)	25						GGAGGCTGTCGCATCCGTGAG	0.572000														30			15		0	0	1	0	0
DOCK8	81704	broad.mit.edu	37	9	439372	439372	+	Missense_Mutation	SNP	C	T	T	rs139990627	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:439372C>T	uc003zgf.2	+	39	5319	c.5207C>T	c.(5206-5208)gCg>gTg	p.A1736V	DOCK8_uc022bcu.1_Missense_Mutation_p.A1668V|DOCK8_uc010mgv.3_Missense_Mutation_p.A1636V|DOCK8_uc010mgu.3_Missense_Mutation_p.A1038V|DOCK8_uc003zgk.2_Missense_Mutation_p.A1194V	NM_203447	NP_001180465	Q8NF50	DOCK8_HUMAN	Homo sapiens dedicator of cytokinesis 8 (DOCK8), transcript variant 1, mRNA.	1736	DHR-2.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		GAGCAGGCCGCGGAGCTCTTC	0.642000														22			22		0	0	1	0	0
COL19A1	1310	broad.mit.edu	37	6	70840080	70840080	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:70840080G>T	uc003pfc.1	+	17	1465	c.1348G>T	c.(1348-1350)Gat>Tat	p.D450Y	COL19A1_uc010kam.2_Missense_Mutation_p.D346Y	NM_001858	NP_001849	Q14993	COJA1_HUMAN	Homo sapiens collagen, type XIX, alpha 1 (COL19A1), mRNA.	450	Triple-helical region 3 (COL3).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						CTAGGGAAATGATGAACATGA	0.378000														19			9		0.00136819	0.00144449	1	1	0
EHMT1	79813	broad.mit.edu	37	9	140669648	140669648	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:140669648C>T	uc011mfc.2	+	10	1772	c.1735C>T	c.(1735-1737)Cgg>Tgg	p.R579W	EHMT1_uc004coa.3_Missense_Mutation_p.R579W|EHMT1_uc004cob.1_Missense_Mutation_p.R548W	NM_024757	NP_079033	Q9H9B1	EHMT1_HUMAN	Homo sapiens euchromatic histone-lysine N-methyltransferase 1 (EHMT1), transcript variant 1, mRNA.	579					DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		TGAAGACCACCGGGGCCGCAT	0.617000														23			9		0	0	1	0	0
IFFO2	126917	broad.mit.edu	37	1	19236951	19236951	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:19236951C>A	uc001bbd.2	-	7	1333	c.1333G>T	c.(1333-1335)Gcc>Tcc	p.A445S		NM_001136265	NP_001129737	Q5TF58	IFFO2_HUMAN	Homo sapiens intermediate filament family orphan 2 (IFFO2), mRNA.	445										endometrium(1)|kidney(1)	2						TCACTTTTGGCTGTGGCCAGC	0.572000														19			4		0.00909568	0.00940365	1	1	0
ASB5	140458	broad.mit.edu	37	4	177142710	177142710	+	Silent	SNP	G	A	A	rs147166381		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:177142710G>A	uc003iuq.2	-	3	540	c.426C>T	c.(424-426)aaC>aaT	p.N142N	ASB5_uc003iup.2_Silent_p.N89N	NM_080874	NP_543150	Q8WWX0	ASB5_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 5 (ASB5), mRNA.	142					intracellular signal transduction					endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2)	34		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)		GGGAGCATGCGTTGAATAACG	0.478000														52			9		0	0	1	0	0
SHBG	6462	broad.mit.edu	37	17	7533526	7533526	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7533526G>A	uc002gie.2	+	0	74	c.36G>A	c.(34-36)ctG>ctA	p.L12L	SHBG_uc010cmu.2_Intron|SHBG_uc010cmo.2_Intron|SHBG_uc010cmp.2_Intron|SHBG_uc010cmq.2_Intron|SHBG_uc010cmr.2_Intron|SHBG_uc010cms.2_Intron|SHBG_uc010cmt.2_Intron|SAT2_uc002gib.1_5'Flank|SAT2_uc002gic.2_5'Flank|SHBG_uc010cmz.2_Intron|SHBG_uc010cmv.2_Intron|SHBG_uc010cmw.2_Intron|SHBG_uc010cmx.2_Intron|SHBG_uc010cmy.2_Intron|SHBG_uc002gid.3_Intron|SHBG_uc010cnd.2_Silent_p.L12L|SHBG_uc010cna.2_Silent_p.L12L|SHBG_uc010vue.1_Silent_p.L12L|SHBG_uc010vuf.1_Silent_p.L12L|SHBG_uc010cnb.2_Silent_p.L12L|SHBG_uc010cnc.2_Silent_p.L12L	NM_001040	NP_001031	P04278	SHBG_HUMAN	Homo sapiens sex hormone-binding globulin (SHBG), transcript variant 1, mRNA.	12					hormone transport	extracellular region	androgen binding|protein homodimerization activity	p.?(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1)	10		all_cancers(10;0.0867)		READ - Rectum adenocarcinoma(115;0.168)	Danazol(DB01406)|Dromostanolone(DB00858)|Estradiol(DB00783)|Estrone(DB00655)|Fluoxymesterone(DB01185)|Hydrocortisone(DB00741)|Mitotane(DB00648)|Norethindrone(DB00717)|Testosterone(DB00624)	CCTCGCGCctgctgctgttgc	0.622000														11			4		0	0	1	0	0
ATM	472	broad.mit.edu	37	11	108216544	108216544	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:108216544C>A	uc001pkb.1	+	57	8878	c.8493C>A	c.(8491-8493)ttC>ttA	p.F2831L	ATM_uc009yxr.1_Missense_Mutation_p.F2831L|C11orf65_uc010rvx.1_Intron|C11orf65_uc009yxu.2_Intron|ATM_uc001pke.2_Missense_Mutation_p.F1483L	NM_000051	NP_000042	Q13315	ATM_HUMAN	Homo sapiens ataxia telangiectasia mutated (ATM), mRNA.	2831	PI3K/PI4K.				DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2/M transition DNA damage checkpoint|cell cycle arrest|cellular response to gamma radiation|double-strand break repair via homologous recombination|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein N-terminus binding|protein complex binding|protein dimerization activity			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		AACCAGTTTTCCGTTACTTCT	0.343000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)				177			10		0.00829132	0.00860413	1	1	0
SPSB3	90864	broad.mit.edu	37	16	1827157	1827157	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:1827157C>T	uc002cmu.3	-	6	1100	c.1009G>A	c.(1009-1011)Gcc>Acc	p.A337T	SPSB3_uc002cmt.3_Missense_Mutation_p.A209T	NM_080861	NP_543137	Q6PJ21	SPSB3_HUMAN	Homo sapiens splA/ryanodine receptor domain and SOCS box containing 3 (SPSB3), mRNA.	337					intracellular signal transduction					endometrium(1)|kidney(4)|lung(3)|prostate(2)	10						CTGGGGTGGGCGGAGGTCGCT	0.672000														28			30		0	0	1	0	0
PDCD11	22984	broad.mit.edu	37	10	105160228	105160228	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:105160228C>T	uc001kwy.1	+	2	264	c.177C>T	c.(175-177)atC>atT	p.I59I		NM_014976	NP_055791	Q14690	RRP5_HUMAN	Homo sapiens programmed cell death 11 (PDCD11), mRNA.	59					mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		AGTTGAAAATCGAAAAGAGAG	0.418000														59			28		0	0	1	0	0
MUC2	4583	broad.mit.edu	37	11	1082672	1082672	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:1082672G>A	uc001lsx.1	+	14	1948	c.1921G>A	c.(1921-1923)Gcc>Acc	p.A641T		NM_002457	NP_002448	Q02817	MUC2_HUMAN	Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA.	641						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)	CGCCTGCACCGCCAAGGGCGT	0.642000														17			7		0	0	1	0	0
PCYT1B	9468	broad.mit.edu	37	X	24690692	24690692	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:24690692G>A	uc004dbj.3	-	0	288	c.58C>T	c.(58-60)Cgc>Tgc	p.R20C		NM_001163264	NP_001156736	Q9Y5K3	PCY1B_HUMAN	Homo sapiens phosphate cytidylyltransferase 1, choline, beta (PCYT1B), transcript variant 2, mRNA.	38						endoplasmic reticulum	choline-phosphate cytidylyltransferase activity	p.S19F(1)		breast(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	17					Choline(DB00122)	ATTACCTTGCGCCACAATTGG	0.413000														63			34		0	0	1	0	0
SCMH1	22955	broad.mit.edu	37	1	41579057	41579057	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:41579057G>A	uc001cgo.3	-	7	982	c.613C>T	c.(613-615)Cga>Tga	p.R205*	SCMH1_uc010ojr.2_Intron|SCMH1_uc001cgp.3_Nonsense_Mutation_p.R144*|SCMH1_uc001cgr.3_Nonsense_Mutation_p.R144*|SCMH1_uc001cgq.3_Nonsense_Mutation_p.R158*|SCMH1_uc001cgs.3_Nonsense_Mutation_p.R215*|SCMH1_uc001cgt.3_Nonsense_Mutation_p.R144*|SCMH1_uc010ojs.1_Non-coding_Transcript	NM_001031694	NP_001165692	Q96GD3	SCMH1_HUMAN	Homo sapiens sex comb on midleg homolog 1 (Drosophila) (SCMH1), transcript variant 1, mRNA.	205					anatomical structure morphogenesis|gene silencing|multicellular organismal development|negative regulation of transcription, DNA-dependent		DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(2)|pancreas(2)|upper_aerodigestive_tract(1)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162)	Myeloproliferative disorder(586;0.0393)				AAGGCCCCTCGCCACCCATCA	0.567000														46			45		0	0	1	0	0
TRBV4-1	28617	broad.mit.edu	37	7	142013476	142013476	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:142013476G>A	uc003vxg.3	+	1	360	c.331G>A	c.(331-333)Gcc>Acc	p.A111T	TRBV2_uc011kro.1_Intron|TRBV4-1_uc022ana.1_Non-coding_Transcript					SubName: Full=V_segment translation product; Flags: Fragment;																		GTATCTCTGCGCCAGCAGCCA	0.597000														56			60		0	0	1	0	0
F8	2157	broad.mit.edu	37	X	154159626	154159626	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:154159626C>T	uc004fmt.3	-	13	2610	c.2439G>A	c.(2437-2439)ttG>ttA	p.L813L		NM_000132	NP_000123	P00451	FA8_HUMAN	Homo sapiens coagulation factor VIII, procoagulant component (F8), transcript variant 1, mRNA.	813	B.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	GACTCTGTCGCAAGAGCATCA	0.418000														95			52		0	0	1	0	0
GARNL3	84253	broad.mit.edu	37	9	130027191	130027191	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:130027191G>T	uc011mae.2	+	0	436	c.35G>T	c.(34-36)aGa>aTa	p.R12I	GARNL3_uc011mad.2_Intron	NM_032293	NP_115669	Q5VVW2	GARL3_HUMAN	Homo sapiens GTPase activating Rap/RanGAP domain-like 3 (GARNL3), mRNA.	12					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity|small GTPase regulator activity			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2)	41						TTTGTGGCCAGATCGCTATGT	0.478000														82			8		0.000157383	0.000170012	1	1	0
EMX2	2018	broad.mit.edu	37	10	119307642	119307642	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:119307642G>T	uc001ldh.4	+	2	1481	c.658G>T	c.(658-660)Gat>Tat	p.D220Y	EMX2_uc001ldi.4_Missense_Mutation_p.R158I	NM_004098	NP_004089	Q04743	EMX2_HUMAN	Homo sapiens empty spiracles homeobox 2 (EMX2), transcript variant 1, mRNA.	220						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(2)	12		Colorectal(252;0.109)|Lung NSC(174;0.179)|all_lung(145;0.22)		all cancers(201;0.0133)		AGAAGGCTCAGATTCGCAACA	0.488000														12			9		2.80697e-09	3.3309e-09	1	1	0
C1orf94	84970	broad.mit.edu	37	1	34684349	34684349	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:34684349G>A	uc001bxt.3	+	6	2622	c.1784G>A	c.(1783-1785)gGc>gAc	p.G595D	C1orf94_uc001bxs.4_Missense_Mutation_p.G405D	NM_001134734	NP_116273	Q6P1W5	CA094_HUMAN	Homo sapiens chromosome 1 open reading frame 94 (C1orf94), transcript variant 1, mRNA.	405							protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				AGTGGGAATGGCATAAACTTT	0.507000														39			27		0	0	1	0	0
TSC22D4	81628	broad.mit.edu	37	7	100071955	100071955	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100071955A>C	uc003uva.3	-	2	1626	c.871T>G	c.(871-873)Ttc>Gtc	p.F291V	TSC22D4_uc011kjv.2_Missense_Mutation_p.F52V|TSC22D4_uc010lgx.3_Missense_Mutation_p.F291V|TSC22D4_uc003uvc.4_Missense_Mutation_p.F291V	NM_030935	NP_112197	Q9Y3Q8	T22D4_HUMAN	Homo sapiens TSC22 domain family, member 4 (TSC22D4), mRNA.	291					negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(1)	8	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GCCAGGCTGAACTTCTGAGCT	0.597000														39			52		0	0	1	0	0
ADCY5	111	broad.mit.edu	37	3	123038541	123038541	+	Nonsense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:123038541C>A	uc003egh.2	-	9	2236	c.2236G>T	c.(2236-2238)Gag>Tag	p.E746*	ADCY5_uc021xdd.1_Nonsense_Mutation_p.E396*|ADCY5_uc003egg.2_Nonsense_Mutation_p.E379*|ADCY5_uc003egi.1_Nonsense_Mutation_p.E305*	NM_183357	NP_899200	O95622	ADCY5_HUMAN	Homo sapiens adenylate cyclase 5 (ADCY5), transcript variant 1, mRNA.	746					activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|adenylate cyclase activity|metal ion binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		AAGTCAGGCTCCCTGAAGGTC	0.582000														29			5		5.9392e-07	6.7814e-07	1	1	0
VSIG1	340547	broad.mit.edu	37	X	107288394	107288394	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:107288394C>T	uc011msk.2	+	0	195	c.34C>T	c.(34-36)Cta>Tta	p.L12L	VSIG1_uc004eno.3_Silent_p.L12L	NM_001170553	NP_001164024	Q86XK7	VSIG1_HUMAN	Homo sapiens V-set and immunoglobulin domain containing 1 (VSIG1), transcript variant 1, mRNA.	12						integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17						CTTTCTGATCCTAAGCTGCCT	0.408000														15			8		0	0	1	0	0
MRPL19	9801	broad.mit.edu	37	2	75879388	75879388	+	Splice_Site	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:75879388T>C	uc002snl.3	+	3	365	c.340_splice	c.e3+2	p.G114_splice		NM_014763	NP_055578	P49406	RM19_HUMAN	Homo sapiens mitochondrial ribosomal protein L19 (MRPL19), nuclear gene encoding mitochondrial protein, mRNA.	114					translation	mitochondrion|nuclear membrane|ribosome	structural constituent of ribosome			kidney(1)|large_intestine(1)|lung(6)	8						TCTATGTTGGTCAGTAAGAGC	0.323000														72			25		0	0	1	0	0
VPS45	11311	broad.mit.edu	37	1	150048339	150048339	+	Silent	SNP	C	T	T	rs150076399	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:150048339C>T	uc001etp.3	+	3	891	c.318C>T	c.(316-318)gaC>gaT	p.D106D	VPS45_uc010pbp.1_Non-coding_Transcript|VPS45_uc010pbq.2_Silent_p.D70D|VPS45_uc010pbs.2_Silent_p.D70D|VPS45_uc001etq.3_5'Flank|VPS45_uc009wlm.1_Silent_p.D106D|VPS45_uc010pbr.1_Silent_p.D70D	NM_007259	NP_009190	Q9NRW7	VPS45_HUMAN	Homo sapiens vacuolar protein sorting 45 homolog (S. cerevisiae) (VPS45), mRNA.	106					blood coagulation|intracellular protein transport|vesicle docking involved in exocytosis	Golgi membrane|endosome membrane|integral to membrane of membrane fraction				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21	Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCAAGAGTGACGTGAAGTCAT	0.413000														52			29		0	0	1	0	0
EIF4G2	1982	broad.mit.edu	37	11	10824816	10824816	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:10824816C>T	uc001mjb.3	-	9	1373	c.221G>A	c.(220-222)cGa>cAa	p.R74Q	EIF4G2_uc009ygf.3_Missense_Mutation_p.R280Q|EIF4G2_uc001mjc.3_Missense_Mutation_p.R74Q|EIF4G2_uc001mjd.3_Missense_Mutation_p.R280Q|EIF4G2_uc001mjf.1_Missense_Mutation_p.R74Q|SNORD97_uc009yge.3_5'Flank	NM_001418	NP_001409	P78344	IF4G2_HUMAN	Homo sapiens eukaryotic translation initiation factor 4 gamma, 2 (EIF4G2), transcript variant 1, mRNA.	280					RNA metabolic process|cell cycle arrest|cell death|regulation of translational initiation	eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		GGAGCACATTCGGGCAAAGTA	0.363000														32			10		0	0	1	0	0
TRIM29	23650	broad.mit.edu	37	11	119999157	119999157	+	Missense_Mutation	SNP	T	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:119999157T>A	uc001pwz.3	-	1	975	c.851A>T	c.(850-852)gAg>gTg	p.E284V	TRIM29_uc010rzi.2_Missense_Mutation_p.E23V|TRIM29_uc010rzj.2_Missense_Mutation_p.E17V|TRIM29_uc001pxa.3_Non-coding_Transcript	NM_012101	NP_036233	Q14134	TRI29_HUMAN	Homo sapiens tripartite motif containing 29 (TRIM29), mRNA.	284					transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		ATCCTCAATCTCAATGATCTT	0.552000														46			4		0	0	1	0	0
SF3B1	23451	broad.mit.edu	37	2	198266178	198266178	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:198266178A>C	uc002uue.3	-	16	2490	c.2442T>G	c.(2440-2442)ttT>ttG	p.F814L	SNORD2_uc021vul.1_5'Flank	NM_012433	NP_036565	O75533	SF3B1_HUMAN	Homo sapiens splicing factor 3b, subunit 1, 155kDa (SF3B1), transcript variant 1, mRNA.	814					nuclear mRNA splicing, via spliceosome	U12-type spliceosomal complex|catalytic step 2 spliceosome|nuclear speck	protein binding			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			AGTGTTTAAAAAAGGGAGGAA	0.348000			Mis		myelodysplastic syndrome									66			6		0	0	1	0	0
NOA1	84273	broad.mit.edu	37	4	57832852	57832852	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:57832852C>T	uc003hck.3	-	4	1773	c.1698G>A	c.(1696-1698)gtG>gtA	p.V566V		NM_032313	NP_115689	Q8NC60	CD014_HUMAN	Homo sapiens nitric oxide associated 1 (NOA1), mRNA.	566							GTP binding										AGGTGATATGCACAGGGAGGA	0.468000														38			27		0	0	1	0	0
ABHD10	55347	broad.mit.edu	37	3	111697940	111697940	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:111697940C>T	uc003dyk.4	+	0	113	c.32C>T	c.(31-33)gCc>gTc	p.A11V	ABHD10_uc011bhq.2_5'UTR	NM_018394	NP_060864	Q9NUJ1	ABHDA_HUMAN	Homo sapiens abhydrolase domain containing 10 (ABHD10), mRNA.	11						mitochondrion	serine-type peptidase activity			large_intestine(2)|lung(7)|skin(1)	10						GCTGTGGCGGCCTGGGTACCT	0.687000														14			6		0	0	1	0	0
DIP2B	57609	broad.mit.edu	37	12	51097980	51097980	+	Nonsense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:51097980G>T	uc001rwv.3	+	19	2539	c.2383G>T	c.(2383-2385)Gga>Tga	p.G795*	DIP2B_uc009zlt.3_Nonsense_Mutation_p.G225*	NM_173602	NP_775873	Q9P265	DIP2B_HUMAN	Homo sapiens DIP2 disco-interacting protein 2 homolog B (Drosophila) (DIP2B), mRNA.	795						nucleus	catalytic activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						CATCCGATCAGGATTGCTGGG	0.383000														87			13		1.5739e-10	1.90488e-10	1	1	0
CH25H	9023	broad.mit.edu	37	10	90966941	90966941	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:90966941G>A	uc001kfz.3	-	0	131	c.109C>T	c.(109-111)Ccc>Tcc	p.P37S		NM_003956	NP_003947	O95992	CH25H_HUMAN	Homo sapiens cholesterol 25-hydroxylase (CH25H), mRNA.	37					bile acid biosynthetic process|fatty acid biosynthetic process|sterol biosynthetic process	cytosol|endoplasmic reticulum membrane|integral to membrane	cholesterol 25-hydroxylase activity|iron ion binding			kidney(1)|large_intestine(2)|lung(3)|stomach(1)	7		Colorectal(252;0.0161)		GBM - Glioblastoma multiforme(2;0.000133)		GGGAAGAAGGGCGACTGTAGG	0.647000														6			4		0	0	1	0	0
SLC10A7	84068	broad.mit.edu	37	4	147215246	147215246	+	Splice_Site	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:147215246A>G	uc010ioz.2	-	8	810	c.556_splice	c.e8-1	p.I186_splice	SLC10A7_uc003ikr.2_Splice_Site_p.I186_splice|SLC10A7_uc010ipa.2_Splice_Site_p.I173_splice|SLC10A7_uc003iks.2_Intron	NM_001029998	NP_001025169	Q0GE19	NTCP7_HUMAN	Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 7 (SLC10A7), transcript variant 2, mRNA.	186						integral to membrane	bile acid:sodium symporter activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(8)|skin(1)	16	all_hematologic(180;0.151)					TCTTCGGACAATCTGAAATAC	0.423000														36			5		0	0	1	0	0
SNX33	257364	broad.mit.edu	37	15	75942222	75942222	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:75942222C>T	uc002bau.3	+	0	875	c.779C>T	c.(778-780)gCc>gTc	p.A260V	IMP3_uc002bat.2_5'Flank|SNX33_uc002bav.3_5'UTR	NM_153271	NP_695003	Q8WV41	SNX33_HUMAN	Homo sapiens sorting nexin 33 (SNX33), mRNA.	260	PX.				cell communication		phosphatidylinositol binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	19						ACCCATGCTGCCTCACCCGTC	0.547000														126			12		0	0	1	0	0
UBXN7	26043	broad.mit.edu	37	3	196089299	196089299	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:196089299G>A	uc003fwm.4	-	8	1169	c.1094C>T	c.(1093-1095)cCg>cTg	p.P365L	UBXN7_uc003fwn.4_Missense_Mutation_p.P217L|UBXN7_uc010iae.3_Missense_Mutation_p.P203L	NM_015562	NP_056377	O94888	UBXN7_HUMAN	Homo sapiens UBX domain protein 7 (UBXN7), mRNA.	365							protein binding			NS(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						CTCAGTCAGCGGCCTTCTATT	0.483000														59			36		0	0	1	0	0
BMP5	653	broad.mit.edu	37	6	55739531	55739531	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:55739531T>C	uc003pcq.3	-	0	845	c.133A>G	c.(133-135)Aac>Gac	p.N45D	BMP5_uc011dxf.2_Missense_Mutation_p.N45D	NM_021073	NP_066551	P22003	BMP5_HUMAN	Homo sapiens bone morphogenetic protein 5 (BMP5), mRNA.	45					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity	p.R44L(1)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			CTTTCGTGGTTCCGTAGTCTT	0.463000														81			54		0	0	1	0	0
C6orf203	51250	broad.mit.edu	37	6	107372330	107372330	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:107372330C>T	uc011eaj.2	+	4	1303	c.628C>T	c.(628-630)Cgg>Tgg	p.R210W	C6orf203_uc003prq.3_Missense_Mutation_p.R205W|C6orf203_uc010kde.3_Missense_Mutation_p.R205W	NM_001142470	NP_057571	Q9P0P8	CF203_HUMAN	Homo sapiens chromosome 6 open reading frame 203 (C6orf203), transcript variant 3, mRNA.	205										large_intestine(4)|lung(2)|prostate(1)|urinary_tract(1)	8	Breast(9;0.00124)|all_epithelial(6;0.0729)	all_cancers(87;0.00461)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|Colorectal(196;0.171)|all_epithelial(87;0.23)	BRCA - Breast invasive adenocarcinoma(8;0.000395)|all cancers(7;0.00065)|Epithelial(6;0.000834)|OV - Ovarian serous cystadenocarcinoma(5;0.244)	BRCA - Breast invasive adenocarcinoma(108;0.117)		GACAGTTATGCGGATTCTCTT	0.383000														53			42		0	0	1	0	0
SPATA20	64847	broad.mit.edu	37	17	48632596	48632596	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:48632596G>A	uc002ird.3	+	15	2302	c.2161G>A	c.(2161-2163)Gtg>Atg	p.V721M	SPATA20_uc002irc.3_Missense_Mutation_p.V372M|SPATA20_uc002ire.3_Missense_Mutation_p.V661M|SPATA20_uc002irf.3_Missense_Mutation_p.V705M|SPATA20_uc002irg.3_Non-coding_Transcript	NM_022827	NP_073738	Q8TB22	SPT20_HUMAN	Homo sapiens spermatogenesis associated 20 (SPATA20), mRNA.	705					cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis	extracellular region	mannose-6-phosphate isomerase activity|protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)			CGGTCAGATCGTGATCTGTGG	0.592000														12			13		0	0	1	0	0
MSH6	2956	broad.mit.edu	37	2	48027090	48027090	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:48027090C>A	uc002rwd.4	+	3	2120	c.1968C>A	c.(1966-1968)ccC>ccA	p.P656P	MSH6_uc002rwc.2_Silent_p.P656P|MSH6_uc010fbj.3_Silent_p.P354P|MSH6_uc010yoj.2_Silent_p.P354P	NM_000179	NP_000170	P52701	MSH6_HUMAN	Homo sapiens mutS homolog 6 (E. coli) (MSH6), mRNA.	656					DNA damage response, signal transduction resulting in induction of apoptosis|determination of adult lifespan|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding	p.0?(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TGATGTTACCCCAGGTGCTTA	0.463000			"""Mis, N, F, S"""		colorectal	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome					175			13		4.3838e-07	5.01911e-07	1	1	0
KCNH7	90134	broad.mit.edu	37	2	163291760	163291760	+	Silent	SNP	A	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:163291760A>T	uc002uch.2	-	7	2131	c.1902T>A	c.(1900-1902)tcT>tcA	p.S634S	KCNH7_uc002uci.3_Silent_p.S627S	NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 7 (KCNH7), transcript variant 1, mRNA.	634					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	TCGTGTTAGGAGACACATTCC	0.378000														45			41		0	0	1	0	0
CELF1	10658	broad.mit.edu	37	11	47493832	47493832	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:47493832G>A	uc001nfp.3	-	14	1897	c.1495C>T	c.(1495-1497)Cgg>Tgg	p.R499W	CELF1_uc001nfl.3_Missense_Mutation_p.R471W|CELF1_uc010rhm.2_Missense_Mutation_p.R470W|CELF1_uc001nfm.3_Missense_Mutation_p.R468W|CELF1_uc001nfk.2_Missense_Mutation_p.R497W|CELF1_uc001nfn.3_Missense_Mutation_p.R467W|CELF1_uc001nfr.1_Missense_Mutation_p.R471W	NM_001025596	NP_001020767	Q92879	CELF1_HUMAN	Homo sapiens CUGBP, Elav-like family member 1 (CELF1), transcript variant 3, mRNA.	471					RNA interference|embryo development|mRNA splice site selection|regulation of RNA splicing	cytoplasm|nucleus|ribonucleoprotein complex	BRE binding|mRNA binding|nucleotide binding|translation repressor activity, nucleic acid binding			central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2)	18						ACTTTAAGCCGCTTCATGCCA	0.517000														112			122		0	0	1	0	0
ZNF510	22869	broad.mit.edu	37	9	99521449	99521449	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:99521449G>A	uc004awn.1	-	5	1852	c.1663C>T	c.(1663-1665)Cga>Tga	p.R555*	ZNF510_uc004awo.1_Nonsense_Mutation_p.R555*	NM_014930	NP_055745	Q9Y2H8	ZN510_HUMAN	Homo sapiens zinc finger protein 510 (ZNF510), mRNA.	555					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1)	21		Acute lymphoblastic leukemia(62;0.0527)				TGATCTTTTCGCCAGAAGGAT	0.413000														88			51		0	0	1	0	0
USP9X	8239	broad.mit.edu	37	X	41073892	41073892	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:41073892T>C	uc004dfb.3	+	33	5894	c.5261T>C	c.(5260-5262)tTg>tCg	p.L1754S	USP9X_uc004dfc.3_Missense_Mutation_p.L1754S	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN	Homo sapiens ubiquitin specific peptidase 9, X-linked (USP9X), transcript variant 3, mRNA.	1754					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity	p.D1754Y(1)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						CTTGATTCTTTGGAACAGTAT	0.323000														79			8		0	0	1	0	0
SNHG5	387066	broad.mit.edu	37	6	86386881	86386881	+	RNA	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:86386881A>C	uc003plb.4	-	4		c.843T>G			SNHG5_uc003pld.4_Non-coding_Transcript					Homo sapiens small nucleolar RNA host gene 5 (non-protein coding) (SNHG5), non-coding RNA.																		TTTTCACACAACAGTCAAGTA	0.313000														1			6		0	0	1	0	0
NOX5	79400	broad.mit.edu	37	15	69329520	69329520	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:69329520C>T	uc002ars.2	+	7	1382	c.1341C>T	c.(1339-1341)tgC>tgT	p.C447C	MIR548H4_uc021spl.1_Intron|NOX5_uc002arq.2_Silent_p.C401C|NOX5_uc002arp.2_Silent_p.C429C|NOX5_uc010bid.2_Silent_p.C412C|NOX5_uc010bie.2_Silent_p.C247C|NOX5_uc002arr.2_Silent_p.C419C|NOX5_uc010bif.2_Non-coding_Transcript	NM_024505	NP_078781	Q96PH1	NOX5_HUMAN	Homo sapiens NADPH oxidase, EF-hand calcium binding domain 5 (NOX5), transcript variant 1, mRNA.	447	FAD-binding FR-type.				angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	NADP binding|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|superoxide-generating NADPH oxidase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						CAGCCGTGTGCATCATGGAAG	0.577000														37			9		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141072507	141072507	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:141072507G>A	uc002tvj.1	-	82	13774	c.12802C>T	c.(12802-12804)Cta>Tta	p.L4268L		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	4268	EGF-like 11.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.L4268I(2)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TATTTACCTAGAACTGATGGT	0.353000										TSP Lung(27;0.18)				29			13		0	0	1	0	0
TTF1	7270	broad.mit.edu	37	9	135277278	135277278	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:135277278G>A	uc004cbl.3	-	1	1000	c.931C>T	c.(931-933)Cgg>Tgg	p.R311W	TTF1_uc004cbm.3_Intron|TTF1_uc011mcp.2_Non-coding_Transcript	NM_007344	NP_031370	Q15361	TTF1_HUMAN	Homo sapiens transcription termination factor, RNA polymerase I (TTF1), transcript variant 1, mRNA.	311					negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		ACAGCAGGCCGGGATTCCTGC	0.453000														92			62		0	0	1	0	0
LGI2	55203	broad.mit.edu	37	4	25005708	25005708	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:25005708C>T	uc003grf.2	-	7	1102	c.1003G>A	c.(1003-1005)Gac>Aac	p.D335N		NM_018176	NP_060646	Q8N0V4	LGI2_HUMAN	Homo sapiens leucine-rich repeat LGI family, member 2 (LGI2), mRNA.	335						extracellular region		p.I334I(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				GTCTCGTCGTCGATCTGAAAC	0.438000														64			37		0	0	1	0	0
PSMA7	5688	broad.mit.edu	37	20	60718345	60718345	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:60718345G>A	uc002ybx.1	-	0	130	c.15C>T	c.(13-15)cgC>cgT	p.R5R	SS18L1_uc011aaa.1_5'Flank|SS18L1_uc002ybz.1_5'Flank|SS18L1_uc002yca.1_5'Flank|SS18L1_uc002ycb.3_5'Flank	NM_002792	NP_002783	O14818	PSA7_HUMAN	Homo sapiens proteasome (prosome, macropain) subunit, alpha type, 7 (PSMA7), mRNA.	5					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|interspecies interaction between organisms|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	identical protein binding|threonine-type endopeptidase activity			large_intestine(1)|lung(2)	3	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.28e-07)			CGGTGATGGCGCGGTCGTAGC	0.736000														2			4		0	0	1	0	0
CSPG5	10675	broad.mit.edu	37	3	47618449	47618449	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:47618449C>T	uc003crp.4	-	1	1243	c.1067G>A	c.(1066-1068)gGc>gAc	p.G356D	CSPG5_uc003crn.3_Missense_Mutation_p.G218D|CSPG5_uc003cro.4_Missense_Mutation_p.G356D|CSPG5_uc021wxh.1_Missense_Mutation_p.G356D|CSPG5_uc021wxi.1_Missense_Mutation_p.G218D|CSPG5_uc011bbb.2_Missense_Mutation_p.G218D	NM_001206943	NP_001193872	O95196	CSPG5_HUMAN	Homo sapiens chondroitin sulfate proteoglycan 5 (neuroglycan C) (CSPG5), transcript variant 3, mRNA.	356					cell differentiation|intracellular transport|nervous system development|regulation of growth	Golgi-associated vesicle membrane|endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	growth factor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	22				BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		GCACTCAGTGCCATTTTCACT	0.642000														95			9		0	0	1	0	0
MAN2B2	23324	broad.mit.edu	37	4	6596380	6596380	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:6596380C>T	uc003gjf.1	+	6	1014	c.978C>T	c.(976-978)ggC>ggT	p.G326G	MAN2B2_uc003gje.1_Silent_p.G326G|MAN2B2_uc011bwf.1_Silent_p.G275G	NM_015274	NP_056089	Q9Y2E5	MA2B2_HUMAN	Homo sapiens mannosidase, alpha, class 2B, member 2 (MAN2B2), mRNA.	326					mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding			breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						CCACGCTGGGCGACTACTTCC	0.617000														19			7		0	0	1	0	0
MAPKAPK3	7867	broad.mit.edu	37	3	50677823	50677823	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:50677823G>A	uc003day.2	+	4	888	c.246G>A	c.(244-246)cgG>cgA	p.R82R	MAPKAPK3_uc003daz.2_Silent_p.R82R|MAPKAPK3_uc003dba.2_Silent_p.R82R|MAPKAPK3_uc010hlr.2_Silent_p.R82R	NM_001243926	NP_001230855	Q16644	MAPK3_HUMAN	Homo sapiens mitogen-activated protein kinase-activated protein kinase 3 (MAPKAPK3), transcript variant 1, mRNA.	82	Protein kinase.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Ras protein signal transduction|Toll signaling pathway|activation of MAPK activity|innate immune response|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity			central_nervous_system(1)|ovary(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.0188)|Kidney(197;0.0223)		CCAAGGCCCGGCAGGAGGTAG	0.532000														124			14		0	0	1	0	0
TPH1	7166	broad.mit.edu	37	11	18042548	18042548	+	Missense_Mutation	SNP	G	A	A	rs147642427		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:18042548G>A	uc001mnp.2	-	9	1351	c.1325C>T	c.(1324-1326)cCg>cTg	p.P442L	TPH1_uc009yhe.2_Non-coding_Transcript	NM_004179	NP_004170	P17752	TPH1_HUMAN	Homo sapiens tryptophan hydroxylase 1 (TPH1), mRNA.	442					aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(14)|prostate(1)|stomach(1)	25					L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)	TTAGATACTCGGCTTCCTGCT	0.498000														103			84		0	0	1	0	0
C4B	721	broad.mit.edu	37	6	31996282	31996282	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31996282C>T	uc011dpd.2	+	24	3254	c.3203C>T	c.(3202-3204)gCt>gTt	p.A1068V	C4B_uc011dpe.2_Missense_Mutation_p.A1068V	NM_001242823	NP_001229752	P0C0L5	CO4B_HUMAN	Homo sapiens complement C4-B-like (LOC100293534), mRNA.	1068					complement activation, classical pathway|inflammatory response|innate immune response	extracellular space	endopeptidase inhibitor activity										TCCTATGCGGCTTGGTTGTCA	0.612000														41			17		0	0	1	0	0
KRT33A	3883	broad.mit.edu	37	17	39502798	39502798	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:39502798C>A	uc002hwk.1	-	5	1036	c.999G>T	c.(997-999)gaG>gaT	p.E333D		NM_004138	NP_004129	O76009	KT33A_HUMAN	Homo sapiens keratin 33A (KRT33A), mRNA.	333	Coil 2.|Rod.					intermediate filament	protein binding|structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	21		Breast(137;0.000496)				GGTTCTGCCGCTCCAGGTCAC	0.632000														35			21		4.26978e-12	5.24748e-12	1	1	0
IRF4	3662	broad.mit.edu	37	6	401645	401645	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:401645G>A	uc003msz.4	+	6	1093	c.967G>A	c.(967-969)Ggg>Agg	p.G323R	IRF4_uc010jne.2_Missense_Mutation_p.G323R|IRF4_uc003mtb.4_Missense_Mutation_p.G322R|IRF4_uc021ykl.1_Missense_Mutation_p.G169R|IRF4_uc003mta.4_Non-coding_Transcript|IRF4_uc003mtc.1_Missense_Mutation_p.G153R	NM_002460	NP_002451	Q15306	IRF4_HUMAN	Homo sapiens interferon regulatory factor 4 (IRF4), transcript variant 1, mRNA.	323					T cell activation|interferon-gamma-mediated signaling pathway|positive regulation of interleukin-10 biosynthetic process|positive regulation of interleukin-13 biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of transcription, DNA-dependent|regulation of T-helper cell differentiation|type I interferon-mediated signaling pathway	cytoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	p.G323R(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)		GGCCCCCGACGGGCTCTATGC	0.612000			T	IGH@	MM									29			19		0	0	1	0	0
TMC7	79905	broad.mit.edu	37	16	19049260	19049260	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:19049260G>A	uc002dfp.2	+	7	1200	c.1070G>A	c.(1069-1071)cGc>cAc	p.R357H	TMC7_uc010vao.1_Silent_p.T351T|TMC7_uc002dfq.3_Missense_Mutation_p.R357H|TMC7_uc010vap.2_Missense_Mutation_p.R247H	NM_024847	NP_079123	Q7Z402	TMC7_HUMAN	Homo sapiens transmembrane channel-like 7 (TMC7), transcript variant 1, mRNA.	357						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						GAAACAATACGCATTTACTCT	0.413000														57			55		0	0	1	0	0
TNFRSF8	943	broad.mit.edu	37	1	12170199	12170199	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:12170199C>T	uc001atq.3	+	5	836	c.614C>T	c.(613-615)gCt>gTt	p.A205V	TNFRSF8_uc010obc.2_Missense_Mutation_p.A94V	NM_001243	NP_001234	P28908	TNR8_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 8 (TNFRSF8), transcript variant 1, mRNA.	205					cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of TRAIL biosynthetic process|positive regulation of apoptosis|positive regulation of tumor necrosis factor biosynthetic process	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)		CAGGAAGCTGCTTCTAAACTG	0.637000														28			11		0	0	1	0	0
GDPD2	54857	broad.mit.edu	37	X	69652787	69652787	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:69652787A>G	uc011mpk.2	+	15	2078	c.1717A>G	c.(1717-1719)Act>Gct	p.T573A	GDPD2_uc004dyh.3_Missense_Mutation_p.T522A|GDPD2_uc011mpl.2_Missense_Mutation_p.T443A|GDPD2_uc011mpm.2_Missense_Mutation_p.T443A	NM_001171192	NP_001164663	Q9HCC8	GDPD2_HUMAN	Homo sapiens glycerophosphodiester phosphodiesterase domain containing 2 (GDPD2), transcript variant 1, mRNA.	522					glycerol metabolic process|lipid metabolic process	cytoplasm|cytoskeleton|integral to membrane|plasma membrane	glycerophosphodiester phosphodiesterase activity|glycerophosphoinositol inositolphosphodiesterase activity|metal ion binding			NS(1)|breast(1)|cervix(1)|endometrium(6)|large_intestine(8)|lung(3)|ovary(2)	22	Renal(35;0.156)					GAGAGGGAAAACTGGTAAGAA	0.527000														22			10		0	0	1	0	0
WDR35	57539	broad.mit.edu	37	2	20137546	20137546	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:20137546C>A	uc002rdi.3	-	19	2366	c.2258G>T	c.(2257-2259)aGg>aTg	p.R753M	WDR35_uc002rdj.3_Missense_Mutation_p.R742M|WDR35_uc010ext.3_Non-coding_Transcript|WDR35_uc002rdh.3_Missense_Mutation_p.R318M|WDR35_uc002rdk.4_Missense_Mutation_p.R318M	NM_001006657	NP_001006658	Q9P2L0	WDR35_HUMAN	Homo sapiens WD repeat domain 35 (WDR35), transcript variant 1, mRNA.	753										breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTCTTCAAACCTGCCGAAGTA	0.448000														99			29		1.7881e-09	2.13289e-09	1	1	0
CPA6	57094	broad.mit.edu	37	8	68334878	68334878	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:68334878G>T	uc003xxq.4	-	10	1431	c.1175C>A	c.(1174-1176)cCt>cAt	p.P392H	CPA6_uc003xxr.4_Missense_Mutation_p.P148H	NM_020361	NP_065094	Q8N4T0	CBPA6_HUMAN	Homo sapiens carboxypeptidase A6 (CPA6), mRNA.	392					proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5)	26			Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)			AAATGCATAAGGTATTCCATT	0.388000														66			8		1.12685e-05	1.25391e-05	1	1	0
HOMER3	9454	broad.mit.edu	37	19	19049214	19049214	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:19049214C>T	uc002nku.2	-	2	904	c.251G>A	c.(250-252)cGc>cAc	p.R84H	HOMER3_uc010eby.2_Missense_Mutation_p.R84H|HOMER3_uc010ebz.2_Missense_Mutation_p.R84H|HOMER3_uc002nkw.2_Missense_Mutation_p.R84H|HOMER3_uc002nkv.2_Missense_Mutation_p.R84H	NM_004838	NP_004829	Q9NSC5	HOME3_HUMAN	Homo sapiens homer homolog 3 (Drosophila) (HOMER3), transcript variant 2, mRNA.	84	WH1.				metabotropic glutamate receptor signaling pathway|protein targeting	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	protein binding			endometrium(3)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	10			Epithelial(12;0.0107)			TGTGTTGGCGCGACTGTCGGC	0.592000														40			21		0	0	1	0	0
PRR14	78994	broad.mit.edu	37	16	30665636	30665636	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:30665636G>T	uc002dyy.3	+	6	892	c.634G>T	c.(634-636)Gac>Tac	p.D212Y	PRR14_uc002dyz.3_Missense_Mutation_p.D57Y|PRR14_uc002dza.3_Missense_Mutation_p.D212Y|PRR14_uc002dzb.1_Missense_Mutation_p.D26Y	NM_024031	NP_076936	Q9BWN1	PRR14_HUMAN	Homo sapiens proline rich 14 (PRR14), mRNA.	212	Pro-rich.									breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	18			Colorectal(24;0.103)			TCTGCCTGCAGACCCTCTGGA	0.577000														116			64		1.20869e-33	1.59983e-33	1	1	0
MIR509-1	574514	broad.mit.edu	37	X	146341179	146341179	+	RNA	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:146341179T>C	uc022cfy.1	-	0		c.66A>G								Homo sapiens microRNA HSA-MIR-RG-55, complete sequence.																		CATGCAGTACTCTACCCACAG	0.453000														92			39		0	0	1	0	0
KIFC3	3801	broad.mit.edu	37	16	57832019	57832019	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:57832019G>T	uc002emq.3	-	1	334	c.137C>A	c.(136-138)cCt>cAt	p.P46H	KIFC3_uc010cdf.3_5'Flank|KIFC3_uc002emo.4_5'Flank|KIFC3_uc010vhy.2_5'Flank|KIFC3_uc002emp.3_Missense_Mutation_p.P46H|KIFC3_uc010vhz.2_Missense_Mutation_p.P68H|KIFC3_uc002emr.1_Missense_Mutation_p.P92H|KIFC3_uc010cdg.1_Non-coding_Transcript	NM_001130100	NP_001123571	Q9BVG8	KIFC3_HUMAN	Homo sapiens kinesin family member C3 (KIFC3), transcript variant 2, mRNA.	46					epithelial cell-cell adhesion|microtubule-based movement|visual perception|zonula adherens maintenance	centrosome|cytoplasmic vesicle membrane|kinesin complex|microtubule|zonula adherens	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(3)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(199;0.224)				GTGTGGGAAAGGGCGGGCGGC	0.672000														1			3		0.115264	0.116841	1	1	0
GPR98	84059	broad.mit.edu	37	5	89988577	89988577	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:89988577C>T	uc003kju.3	+	31	7203	c.7107C>T	c.(7105-7107)tcC>tcT	p.S2369S	GPR98_uc003kjt.3_Silent_p.S75S|GPR98_uc003kjv.3_5'Flank	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	2369					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding	p.S2368G(1)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AAAGAAGTTCCTGTGCTAATA	0.443000														11			3		0	0	1	0	0
CCDC120	90060	broad.mit.edu	37	X	48921961	48921961	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:48921961G>A	uc011mmr.2	+	5	677	c.385G>A	c.(385-387)Gcc>Acc	p.A129T	CCDC120_uc010nik.3_Missense_Mutation_p.A129T|CCDC120_uc011mmq.2_Missense_Mutation_p.A117T|CCDC120_uc004dmf.3_Missense_Mutation_p.A129T|CCDC120_uc010nil.3_Missense_Mutation_p.A129T|CCDC120_uc011mms.2_Missense_Mutation_p.A117T|CCDC120_uc022bvz.1_5'Flank	NM_001163321	NP_001156793	Q96HB5	CC120_HUMAN	Homo sapiens coiled-coil domain containing 120 (CCDC120), transcript variant 1, mRNA.	129							protein binding			breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14						CGCGGCGGCCGCCCGCCGCCT	0.667000														2			5		0	0	1	0	0
DHRS7	51635	broad.mit.edu	37	14	60619860	60619860	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:60619860G>A	uc001xes.3	-	3	614	c.430C>T	c.(430-432)Cgt>Tgt	p.R144C	C14orf135_uc001xeq.2_Intron|DHRS7_uc001xet.3_Missense_Mutation_p.R94C	NM_016029	NP_057113	Q9Y394	DHRS7_HUMAN	Homo sapiens dehydrogenase/reductase (SDR family) member 7 (DHRS7), mRNA.	144							binding|oxidoreductase activity			endometrium(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	5				OV - Ovarian serous cystadenocarcinoma(108;0.121)		CACAGAGAACGCTGGGACATT	0.428000														42			29		0	0	1	0	0
PLXNA2	5362	broad.mit.edu	37	1	208206762	208206762	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:208206762G>A	uc001hgz.3	-	27	5715	c.4957C>T	c.(4957-4959)Cat>Tat	p.H1653Y		NM_025179	NP_079455	O75051	PLXA2_HUMAN	Homo sapiens plexin A2 (PLXNA2), mRNA.	1653					axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		TTCACCAGATGCCACACCTTG	0.622000														36			27		0	0	1	0	0
MXRA8	54587	broad.mit.edu	37	1	1289437	1289437	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:1289437G>A	uc001aex.4	-	7	1226	c.1195C>T	c.(1195-1197)Ctt>Ttt	p.L399F	MXRA8_uc001aew.3_Missense_Mutation_p.L399F|MXRA8_uc001aey.4_Missense_Mutation_p.L399F|MXRA8_uc001aez.3_Missense_Mutation_p.L298F|MXRA8_uc001afa.3_Missense_Mutation_p.L390F	NM_032348	NP_115724	Q9BRK3	MXRA8_HUMAN	Homo sapiens matrix-remodelling associated 8 (MXRA8), mRNA.	399						integral to membrane				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(3)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CTCCTGTAAAGCATCTGGTCC	0.642000														48			6		0	0	1	0	0
NFX1	4799	broad.mit.edu	37	9	33295380	33295380	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:33295380C>T	uc003zsr.3	+	1	1141	c.988C>T	c.(988-990)Cga>Tga	p.R330*	NFX1_uc011lnw.2_Nonsense_Mutation_p.R330*|NFX1_uc003zso.3_Nonsense_Mutation_p.R330*|NFX1_uc003zsp.2_Nonsense_Mutation_p.R330*|NFX1_uc010mjr.2_Nonsense_Mutation_p.R330*|NFX1_uc003zsq.3_Nonsense_Mutation_p.R330*	NM_002504	NP_002495	Q12986	NFX1_HUMAN	Homo sapiens nuclear transcription factor, X-box binding 1 (NFX1), transcript variant 1, mRNA.	330					inflammatory response|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|ligase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25			LUSC - Lung squamous cell carcinoma(29;0.00506)	GBM - Glioblastoma multiforme(74;0.224)		TCCTTTCTCCCGAGGCAAACA	0.408000														33			13		0	0	1	0	0
POLR2C	5432	broad.mit.edu	37	16	57503104	57503104	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:57503104G>A	uc002elt.1	+	4	372	c.286G>A	c.(286-288)Gag>Aag	p.E96K	POLR2C_uc010vhq.2_Missense_Mutation_p.E96K	NM_032940	NP_116558	P19387	RPB3_HUMAN	Homo sapiens polymerase (RNA) II (DNA directed) polypeptide C, 33kDa (POLR2C), mRNA.	96	Cys-rich.				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|protein dimerization activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	10						GTTCTGCCCCGAGTGCTCGGT	0.572000														48			38		0	0	1	0	0
USH1G	124590	broad.mit.edu	37	17	72916250	72916250	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:72916250G>A	uc002jme.1	-	1	864	c.681C>T	c.(679-681)ggC>ggT	p.G227G	USH1G_uc010wro.1_Silent_p.G124G	NM_173477	NP_775748	Q495M9	USH1G_HUMAN	Homo sapiens Usher syndrome 1G (autosomal recessive) (USH1G), mRNA.	227					equilibrioception|photoreceptor cell maintenance|sensory perception of sound	actin cytoskeleton			HN1/USH1G(2)	endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3)	14	all_lung(278;0.172)|Lung NSC(278;0.207)					AGGTGCCTTCGCCGCCCTGCT	0.687000														38			20		0	0	1	0	0
RHBDF1	64285	broad.mit.edu	37	16	111407	111407	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:111407C>A	uc002cfl.4	-	9	1514	c.1371G>T	c.(1369-1371)gaG>gaT	p.E457D	RHBDF1_uc010uty.2_Missense_Mutation_p.E480D|RHBDF1_uc010utz.2_Missense_Mutation_p.E457D	NM_022450	NP_071895	Q96CC6	RHDF1_HUMAN	Homo sapiens rhomboid 5 homolog 1 (Drosophila) (RHBDF1), mRNA.	457					cell migration|cell proliferation|negative regulation of protein secretion|protein transport|proteolysis|regulation of epidermal growth factor receptor signaling pathway|regulation of proteasomal protein catabolic process	Golgi membrane|endoplasmic reticulum membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	18		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)				TCCAGAAGTTCTCCTGCTGCA	0.731000														18			6		0.0215528	0.0220531	1	1	0
TRRAP	8295	broad.mit.edu	37	7	98564774	98564774	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:98564774C>T	uc003upp.3	+	48	7475	c.7266C>T	c.(7264-7266)aaC>aaT	p.N2422N	TRRAP_uc011kis.2_Silent_p.N2404N|TRRAP_uc003upr.3_Silent_p.N2121N	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.	2422					histone H2A acetylation|histone H4 acetylation|histone deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			ATCTTGTTAACTATGTCTACA	0.393000														110			14		0	0	1	0	0
ATF4	468	broad.mit.edu	37	22	39917987	39917987	+	Nonsense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:39917987G>T	uc003axz.3	+	2	716	c.436G>T	c.(436-438)Gaa>Taa	p.E146*	ATF4_uc011aol.1_Nonsense_Mutation_p.E58*|ATF4_uc003aya.3_Nonsense_Mutation_p.E146*|ATF4_uc021wpz.1_5'Flank	NM_182810	NP_877962	P18848	ATF4_HUMAN	Homo sapiens activating transcription factor 4 (tax-responsive enhancer element B67) (ATF4), transcript variant 2, mRNA.	146					cellular amino acid metabolic process|gluconeogenesis|positive regulation of transcription from RNA polymerase II promoter|response to endoplasmic reticulum stress|transcription from RNA polymerase II promoter	cytoplasm|plasma membrane	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11	Melanoma(58;0.04)					CCATCTCCCAGAAAGTTTAAC	0.532000														148			8		0.00448238	0.0046769	1	1	0
AKR1D1	6718	broad.mit.edu	37	7	137776629	137776629	+	Splice_Site	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:137776629A>C	uc003vtz.3	+	3	465	c.378_splice	c.e3+1	p.K126_splice	AKR1D1_uc011kqd.1_Intron|AKR1D1_uc011kqb.1_Splice_Site_p.K126_splice|AKR1D1_uc011kqc.1_Splice_Site|AKR1D1_uc011kqf.2_Splice_Site_p.K126_splice|AKR1D1_uc011kqe.1_Splice_Site_p.K126_splice|AKR1D1_uc010lmy.1_Splice_Site	NM_005989	NP_005980	P51857	AK1D1_HUMAN	Homo sapiens aldo-keto reductase family 1, member D1 (delta 4-3-ketosteroid-5-beta-reductase) (AKR1D1), transcript variant 1, mRNA.	126					C21-steroid hormone metabolic process|androgen metabolic process|bile acid biosynthetic process|bile acid catabolic process|cholesterol catabolic process|digestion	cytosol	aldo-keto reductase (NADP) activity|delta4-3-oxosteroid 5beta-reductase activity|steroid binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	23						ATGGCCTTTAAGGTGAGTTCA	0.512000														88			8		0	0	1	0	0
TPO	7173	broad.mit.edu	37	2	1418251	1418251	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:1418251C>T	uc002qwr.3	+	1	157	c.71C>T	c.(70-72)tCg>tTg	p.S24L	TPO_uc010ewj.3_Intron|TPO_uc010yin.1_Missense_Mutation_p.S24L|TPO_uc002qww.3_Missense_Mutation_p.S24L|TPO_uc002qwx.3_Missense_Mutation_p.S24L|TPO_uc002qwu.3_Missense_Mutation_p.S24L|TPO_uc010yio.2_Missense_Mutation_p.S24L|TPO_uc010yip.2_Missense_Mutation_p.S24L	NM_001206744	NP_001193673	P07202	PERT_HUMAN	Homo sapiens thyroid peroxidase (TPO), transcript variant 6, mRNA.	24					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CCCTTCATCTCGAGAGGGAAA	0.453000														11			13		0	0	1	0	0
ODZ4	26011	broad.mit.edu	37	11	78423726	78423726	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:78423726T>C	uc001ozl.4	-	25	4318	c.3855A>G	c.(3853-3855)acA>acG	p.T1285T		NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA.	1285					signal transduction	integral to membrane				breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						TCATGGGGTCTGTGGCCAGGT	0.493000														39			4		0	0	1	0	0
IPO5	3843	broad.mit.edu	37	13	98654812	98654812	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:98654812C>T	uc001vne.3	+	13	1434	c.1254C>T	c.(1252-1254)atC>atT	p.I418I	IPO5_uc001vnf.1_Silent_p.I400I|IPO5_uc010tik.1_Silent_p.I275I|IPO5_uc010til.1_Silent_p.I340I|IPO5_uc001vng.1_Silent_p.I21I	NM_002271	NP_002262	O00410	IPO5_HUMAN	Homo sapiens importin 5 (IPO5), mRNA.	400					NLS-bearing substrate import into nucleus|interspecies interaction between organisms|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|Ran GTPase binding|protein transporter activity			breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						TAAATGAGATCGTAAATTTTG	0.393000														46			19		0	0	1	0	0
ABCA5	23461	broad.mit.edu	37	17	67273863	67273863	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:67273863C>T	uc002jif.2	-	17	3731	c.2513G>A	c.(2512-2514)aGc>aAc	p.S838N	ABCA5_uc002jic.2_Missense_Mutation_p.S61N|ABCA5_uc002jid.2_5'UTR|ABCA5_uc002jie.2_Non-coding_Transcript|ABCA5_uc002jig.2_Missense_Mutation_p.S838N|ABCA5_uc002jih.2_Missense_Mutation_p.S838N|ABCA5_uc010dfe.2_Missense_Mutation_p.S838N	NM_018672	NP_758424	Q8WWZ7	ABCA5_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 5 (ABCA5), transcript variant 1, mRNA.	838					cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)					TTTCCAAAGGCTCATGGTGCT	0.373000														38			23		0	0	1	0	0
HLTF	6596	broad.mit.edu	37	3	148789435	148789435	+	Nonsense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:148789435C>A	uc003ewq.1	-	5	855	c.637G>T	c.(637-639)Gaa>Taa	p.E213*	HLTF_uc003ewr.1_Nonsense_Mutation_p.E213*|HLTF_uc003ews.1_Nonsense_Mutation_p.E213*|HLTF_uc010hve.1_Nonsense_Mutation_p.E213*	NM_139048	NP_620636	Q14527	HLTF_HUMAN	Homo sapiens helicase-like transcription factor (HLTF), transcript variant 2, mRNA.	213				KTE -> PEF (in Ref. 6; AAB27691).	chromatin modification|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding	p.E213K(2)		breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			TTGTCAAATTCTGTTTTAAGC	0.259000														6			8		2.17888e-05	2.40634e-05	1	1	0
ZNF385B	151126	broad.mit.edu	37	2	180383346	180383346	+	Missense_Mutation	SNP	G	A	A	rs139953454		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:180383346G>A	uc002unn.4	-	4	1020	c.416C>T	c.(415-417)gCg>gTg	p.A139V	ZNF385B_uc002unj.3_Missense_Mutation_p.A37V|ZNF385B_uc002unl.3_Missense_Mutation_p.A36V|ZNF385B_uc002unk.3_Non-coding_Transcript|ZNF385B_uc002unm.3_Missense_Mutation_p.A63V	NM_152520	NP_001106869	Q569K4	Z385B_HUMAN	Homo sapiens zinc finger protein 385B (ZNF385B), transcript variant 1, mRNA.	139						nucleus	nucleic acid binding|zinc ion binding	p.K138N(1)		breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	26			Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)			GTTAATAACCGCTTTTTGCAC	0.343000														61			51		0	0	1	0	0
CCDC158	339965	broad.mit.edu	37	4	77305273	77305273	+	Nonsense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:77305273C>A	uc003hkb.4	-	4	847	c.694G>T	c.(694-696)Gag>Tag	p.E232*	CCDC158_uc003hkd.3_Nonsense_Mutation_p.E232*	NM_001042784	NP_001036249	Q5M9N0	CD158_HUMAN	Homo sapiens coiled-coil domain containing 158 (CCDC158), mRNA.	232			E -> D (in dbSNP:rs17001889).							breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						TAAGAAATCTCTGTGTCTAAT	0.343000														27			16		2.48551e-13	3.09088e-13	1	1	0
C3orf17	25871	broad.mit.edu	37	3	112732162	112732162	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:112732162T>C	uc003dzr.3	-	3	491	c.430A>G	c.(430-432)Aag>Gag	p.K144E	C3orf17_uc011bia.2_Missense_Mutation_p.Q21R|C3orf17_uc003dzu.3_Intron|C3orf17_uc011bib.2_Missense_Mutation_p.K33E|C3orf17_uc011bic.2_Intron|C3orf17_uc011bid.2_Intron|C3orf17_uc011bhz.2_Intron|C3orf17_uc003dzt.3_Missense_Mutation_p.K47E|C3orf17_uc003dzs.3_Missense_Mutation_p.K8E|C3orf17_uc010hqg.3_5'UTR	NM_015412	NP_056227	Q6NW34	CC017_HUMAN	Homo sapiens chromosome 3 open reading frame 17 (C3orf17), transcript variant 1, mRNA.	144						integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(2)|lung(6)|prostate(2)|skin(1)	13						AGCAACAACTTGCAGGCTCCC	0.398000														63			18		0	0	1	0	0
COL5A3	50509	broad.mit.edu	37	19	10085059	10085059	+	Missense_Mutation	SNP	C	T	T	rs140683403		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10085059C>T	uc002mmq.1	-	45	3454	c.3368G>A	c.(3367-3369)cGg>cAg	p.R1123Q		NM_015719	NP_056534	P25940	CO5A3_HUMAN	Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA.	1123	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			TGGGGGTCCCCGGCGCCCCTG	0.602000														22			10		0	0	1	0	0
NUAK1	9891	broad.mit.edu	37	12	106460608	106460608	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:106460608G>A	uc001tlj.1	-	6	3338	c.1958C>T	c.(1957-1959)gCg>gTg	p.A653V		NM_014840	NP_055655	O60285	NUAK1_HUMAN	Homo sapiens NUAK family, SNF1-like kinase, 1 (NUAK1), mRNA.	653							ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						GATCTCCAGCGCTTGCTTGTA	0.632000														84			52		0	0	1	0	0
BRCA1	672	broad.mit.edu	37	17	41244758	41244758	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:41244758A>G	uc002icq.3	-	9	3022	c.2790T>C	c.(2788-2790)ccT>ccC	p.P930P	BRCA1_uc010whp.2_Intron|BRCA1_uc010whl.2_Intron|BRCA1_uc010whm.2_Intron|BRCA1_uc002icp.4_Silent_p.P859P|BRCA1_uc002icu.3_Intron|BRCA1_uc010cyx.3_Silent_p.P883P|BRCA1_uc002ict.3_Silent_p.P930P|BRCA1_uc010whn.2_Intron|BRCA1_uc010who.2_Intron|BRCA1_uc010whq.1_Intron|BRCA1_uc002idc.1_Intron|BRCA1_uc010whr.1_Intron|BRCA1_uc002idd.3_Silent_p.P930P|BRCA1_uc002ide.1_Silent_p.P761P|BRCA1_uc010cyy.1_Silent_p.P930P|BRCA1_uc010whs.1_Silent_p.P930P|BRCA1_uc010cyz.2_Silent_p.P883P|BRCA1_uc010cza.2_Silent_p.P904P|BRCA1_uc010wht.1_Silent_p.P634P	NM_007294	NP_009228	P38398	BRCA1_HUMAN	Homo sapiens breast cancer 1, early onset (BRCA1), transcript variant 1, mRNA.	930					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|G2/M transition DNA damage checkpoint|androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|double-strand break repair via homologous recombination|fatty acid biosynthetic process|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of DNA repair|positive regulation of cell cycle arrest|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of histone acetylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein K6-linked ubiquitination|protein autoubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	RNA binding|androgen receptor binding|identical protein binding|protein binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GACCAACCACAGGAAAGCCTG	0.388000			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)				125			14		0	0	1	0	0
SMC1B	27127	broad.mit.edu	37	22	45785689	45785689	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:45785689A>G	uc003bgc.3	-	9	1686	c.1634T>C	c.(1633-1635)aTt>aCt	p.I545T	SMC1B_uc003bgd.3_Missense_Mutation_p.I545T|SMC1B_uc003bge.1_Missense_Mutation_p.I328T	NM_148674	NP_683515	Q8NDV3	SMC1B_HUMAN	Homo sapiens structural maintenance of chromosomes 1B (SMC1B), mRNA.	545	Flexible hinge.				chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		GGCTACAACAATGGCAGTGAT	0.413000														107			12		0	0	1	0	0
SIRT4	23409	broad.mit.edu	37	12	120750805	120750805	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:120750805G>A	uc001tyc.3	+	3	970	c.911G>A	c.(910-912)tGt>tAt	p.C304Y		NM_012240	NP_036372	Q9Y6E7	SIRT4_HUMAN	Homo sapiens sirtuin 4 (SIRT4), mRNA.	304	Deacetylase sirtuin-type.				chromatin silencing|negative regulation of insulin secretion|protein ADP-ribosylation|protein deacetylation	mitochondrial matrix	NAD+ ADP-ribosyltransferase activity|NAD+ binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|protein binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)	9	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AATTCTCGTTGTGGAGAGTTG	0.478000														101			9		0	0	1	0	0
MUC7	4589	broad.mit.edu	37	4	71339760	71339760	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:71339760G>A	uc011cat.2	+	2	310	c.22G>A	c.(22-24)Gtg>Atg	p.V8M	MUC7_uc011cau.2_Missense_Mutation_p.V8M|MUC7_uc003hfj.3_Missense_Mutation_p.V8M	NM_001145006	NP_689504	Q8TAX7	MUC7_HUMAN	Homo sapiens mucin 7, secreted (MUC7), transcript variant 1, mRNA.	8						extracellular region	protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			GCCGCTGTTTGTGTGCATCTG	0.398000														81			21		0	0	1	0	0
C18orf8	29919	broad.mit.edu	37	18	21083594	21083594	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:21083594G>T	uc021uie.1	+	0	133	c.12G>T	c.(10-12)gaG>gaT	p.E4D	C18orf8_uc010xau.1_5'UTR|C18orf8_uc010xav.1_Missense_Mutation_p.E4D|C18orf8_uc010xaw.1_5'UTR	NM_013326	NP_037458	Q96DM3	MIC1_HUMAN	Homo sapiens chromosome 18 open reading frame 8 (C18orf8), mRNA.	4										endometrium(9)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	21	all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127)					TGGGCGAGGAGGACTACTATC	0.716000														25			5		0.000274275	0.000294507	1	1	0
CDH20	28316	broad.mit.edu	37	18	59166563	59166563	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:59166563A>G	uc010dps.1	+	1	543	c.391A>G	c.(391-393)Act>Gct	p.T131A	CDH20_uc002lif.2_Missense_Mutation_p.T125A	NM_031891	NP_114097	Q9HBT6	CAD20_HUMAN	Homo sapiens cadherin 20, type 2 (CDH20), mRNA.	131	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				AGCCCAGTATACTCTAAGGGC	0.542000														13			8		0	0	1	0	0
KCNN1	3780	broad.mit.edu	37	19	18092792	18092792	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:18092792G>A	uc002nht.3	+	4	1083	c.773G>A	c.(772-774)cGc>cAc	p.R258H	KCNN1_uc010xqa.1_Missense_Mutation_p.R258H	NM_002248	NP_002239	Q92952	KCNN1_HUMAN	Homo sapiens potassium intermediate/small conductance calcium-activated channel, subfamily N, member 1 (KCNN1), mRNA.	258					synaptic transmission	voltage-gated potassium channel complex	calmodulin binding|small conductance calcium-activated potassium channel activity			endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	8						GCCTCGAGCCGCAGCATCGGG	0.602000														5			5		0	0	1	0	0
MAP4K4	9448	broad.mit.edu	37	2	102456416	102456416	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:102456416G>T	uc002tbc.3	+	9	1287	c.909G>T	c.(907-909)aaG>aaT	p.K303N	MAP4K4_uc002tbf.3_Missense_Mutation_p.K303N|MAP4K4_uc002tbd.3_Missense_Mutation_p.K303N|MAP4K4_uc010yvy.2_Missense_Mutation_p.K303N|MAP4K4_uc002tbh.3_Missense_Mutation_p.K303N|MAP4K4_uc002tbg.3_Missense_Mutation_p.K303N|MAP4K4_uc002tbi.3_Intron|MAP4K4_uc010yvz.2_Missense_Mutation_p.K283N|MAP4K4_uc010fiw.1_Missense_Mutation_p.K145N|MAP4K4_uc002tbj.1_Missense_Mutation_p.K199N	NM_145687	NP_001229488	O95819	M4K4_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase kinase 4 (MAP4K4), transcript variant 3, mRNA.	303					intracellular protein kinase cascade|regulation of JNK cascade|response to stress	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TCCAGCTTAAGGATCATATAG	0.388000														43			27		1.7367e-05	1.92331e-05	1	1	0
CROCC	9696	broad.mit.edu	37	1	17292335	17292335	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:17292335G>A	uc001azt.2	+	27	4592	c.4523G>A	c.(4522-4524)cGc>cAc	p.R1508H	CROCC_uc001azu.2_Missense_Mutation_p.R811H|CROCC_uc001azv.2_5'Flank	NM_014675	NP_055490	Q5TZA2	CROCC_HUMAN	Homo sapiens ciliary rootlet coiled-coil, rootletin (CROCC), mRNA.	1508					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		GAGGCAGTGCGCGGGGCCCTC	0.667000														42			5		0	0	1	0	0
SACS	26278	broad.mit.edu	37	13	23915088	23915088	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:23915088C>T	uc001uon.2	-	9	3516	c.2927G>A	c.(2926-2928)cGt>cAt	p.R976H	SACS_uc001uoo.2_Missense_Mutation_p.R829H|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA.	976					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|Hsp70 protein binding|chaperone binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		GTTTGCCAGACGAATAGTAGC	0.348000														40			37		0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92534102	92534102	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:92534102C>T	uc001pdj.4	+	8	7940	c.7923C>T	c.(7921-7923)agC>agT	p.S2641S		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	2641	Cadherin 24.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.S2641S(2)		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)				CCCTCTATAGCGAGGCCTCTG	0.473000										TCGA Ovarian(4;0.039)				15			4		0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21487720	21487720	+	Splice_Site	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:21487720G>A	uc002kuq.3	+	54	6922	c.6836_splice	c.e54-1	p.G2279_splice	LAMA3_uc002kur.3_Splice_Site_p.G2223_splice|LAMA3_uc002kus.4_Splice_Site_p.G670_splice|LAMA3_uc002kut.4_Splice_Site_p.G614_splice	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA.	2279	Domain II and I.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGTGCATTAGGTGATATTGAT	0.443000														75			48		0	0	1	0	0
MCTP2	55784	broad.mit.edu	37	15	94942270	94942270	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:94942270G>A	uc002btj.3	+	13	1934	c.1869G>A	c.(1867-1869)gaG>gaA	p.E623E	MCTP2_uc010boj.3_Silent_p.E352E|MCTP2_uc010bok.3_Silent_p.E623E|MCTP2_uc002btk.4_Silent_p.E211E|MCTP2_uc002btl.3_Silent_p.E211E	NM_018349	NP_060819	Q6DN12	MCTP2_HUMAN	Homo sapiens multiple C2 domains, transmembrane 2 (MCTP2), transcript variant 1, mRNA.	623					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			TTTACTTAGAGATGGACCTTA	0.373000														25			17		0	0	1	0	0
ASXL1	171023	broad.mit.edu	37	20	30954259	30954259	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:30954259A>C	uc021wbw.1	+	1	562	c.130A>C	c.(130-132)Aag>Cag	p.K44Q	ASXL1_uc002wxt.3_Missense_Mutation_p.K44Q|ASXL1_uc002wxr.2_Non-coding_Transcript|ASXL1_uc002wxs.3_Missense_Mutation_p.K44Q|ASXL1_uc010geb.3_5'Flank	NM_015338	NP_056153	Q8IXJ9	ASXL1_HUMAN	Homo sapiens additional sex combs like 1 (Drosophila) (ASXL1), transcript variant 1, mRNA.	44					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						AGAAGGACTAAAGGAAATGAG	0.373000			"""F, N, Mis"""		"""MDS, CMML"""									62			38		0	0	1	0	0
MAP4K3	8491	broad.mit.edu	37	2	39477781	39477781	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:39477781G>A	uc002rro.3	-	33	2754	c.2663C>T	c.(2662-2664)gCg>gTg	p.A888V	MAP4K3_uc002rrp.3_Missense_Mutation_p.A867V|MAP4K3_uc010yns.2_Missense_Mutation_p.A441V	NM_003618	NP_003609	Q8IVH8	M4K3_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase kinase 3 (MAP4K3), mRNA.	888					JNK cascade		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				TTCATGACCCGCCAGGATGTA	0.378000														32			21		0	0	1	0	0
NR1H2	7376	broad.mit.edu	37	19	50881013	50881013	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:50881013G>A	uc010enw.3	+	3	536	c.67G>A	c.(67-69)Gcc>Acc	p.A23T	NR1H2_uc002prv.4_Non-coding_Transcript|NR1H2_uc002psa.4_Missense_Mutation_p.A23T	NM_007121	NP_009052	P55055	NR1H2_HUMAN	Homo sapiens nuclear receptor subfamily 1, group H, member 2 (NR1H2), mRNA.	23					negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of pinocytosis|negative regulation of transcription, DNA-dependent|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding	p.G22G(1)		endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	8		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		TCAGCCTGGCGCCCCTTCTTC	0.632000														20			12		0	0	1	0	0
NCAN	1463	broad.mit.edu	37	19	19329930	19329930	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:19329930C>A	uc002nlz.3	+	2	379	c.280C>A	c.(280-282)Ctg>Atg	p.L94M		NM_004386	NP_004377	O14594	NCAN_HUMAN	Homo sapiens neurocan (NCAN), mRNA.	94	Ig-like V-type.				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			CTTGCCCATCCTGGTGGCCAA	0.642000														16			9		0.00829132	0.00860413	1	1	0
CUL9	23113	broad.mit.edu	37	6	43168246	43168246	+	Missense_Mutation	SNP	C	T	T	rs148664624	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:43168246C>T	uc003ouk.3	+	14	3532	c.3457C>T	c.(3457-3459)Ctc>Ttc	p.L1153F	CUL9_uc003oul.3_Missense_Mutation_p.L1153F|CUL9_uc010jyk.3_Missense_Mutation_p.L305F	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN	Homo sapiens cullin 9 (CUL9), mRNA.	1153	DOC.				ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						TGATGTGTTCCTCAGGCATCT	0.542000														23			18		0	0	1	0	0
ATAD5	79915	broad.mit.edu	37	17	29185179	29185179	+	Splice_Site	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:29185179T>C	uc002hfs.1	+	9	3137	c.2794_splice	c.e9-1	p.F932_splice	ATAD5_uc002hft.1_Splice_Site_p.F829_splice	NM_024857	NP_079133	Q96QE3	ATAD5_HUMAN	Homo sapiens ATPase family, AAA domain containing 5 (ATAD5), mRNA.	932					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				TTTATTGCAGTTCATGAGGAC	0.313000														37			24		0	0	1	0	0
MCM4	4173	broad.mit.edu	37	8	48883349	48883349	+	Nonsense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:48883349C>A	uc003xqk.2	+	11	2539	c.1713C>A	c.(1711-1713)tgC>tgA	p.C571*	MCM4_uc003xql.2_Nonsense_Mutation_p.C571*|MCM4_uc011ldi.2_Nonsense_Mutation_p.C558*	NM_182746	NP_877423	P33991	MCM4_HUMAN	Homo sapiens minichromosome maintenance complex component 4 (MCM4), transcript variant 2, mRNA.	571	MCM.				DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				ACGGCATCTGCTGTATCGATG	0.502000														24			15		0.000422831	0.000453626	1	1	0
MORN5	254956	broad.mit.edu	37	9	124936902	124936902	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:124936902C>T	uc011lyn.2	+	3	497	c.435C>T	c.(433-435)aaC>aaT	p.N145N	MORN5_uc011lyo.1_3'UTR|MORN5_uc004blw.2_Silent_p.N145N	NM_198469	NP_940871	Q5VZ52	MORN5_HUMAN	Homo sapiens MORN repeat containing 5 (MORN5), mRNA.	145								p.N145N(2)		endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	9						TTCTAAGAAACGCAGGTAGGT	0.448000														38			32		0	0	1	0	0
GPR84	53831	broad.mit.edu	37	12	54756608	54756608	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:54756608G>A	uc021qyp.1	-	0	1028	c.1028C>T	c.(1027-1029)gCc>gTc	p.A343V	GPR84_uc001sfu.3_Missense_Mutation_p.A343V	NM_020370	NP_065103	Q9NQS5	GPR84_HUMAN	Homo sapiens G protein-coupled receptor 84 (GPR84), mRNA.	343						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(2)|kidney(2)|large_intestine(6)|lung(5)|skin(1)|urinary_tract(1)	18						CTGGACTCTGGCATCCAGAAT	0.537000														104			9		0	0	1	0	0
CDK13	8621	broad.mit.edu	37	7	40133841	40133841	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:40133841A>G	uc003thh.4	+	13	4083	c.3801A>G	c.(3799-3801)ccA>ccG	p.P1267P	CDK13_uc003thi.4_Silent_p.P1207P|CDK13_uc003thj.3_Silent_p.P318P|CDK13_uc003thk.3_Silent_p.P200P	NM_003718	NP_003709	Q14004	CDK13_HUMAN	Homo sapiens cyclin-dependent kinase 13 (CDK13), transcript variant 1, mRNA.	1267					alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|RNA polymerase II carboxy-terminal domain kinase activity|cyclin-dependent protein kinase activity|protein binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						CTCCTGAACCACCACCAGTCA	0.527000														129			8		0	0	1	0	0
NEDD4	4734	broad.mit.edu	37	15	56130001	56130001	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:56130001C>T	uc002adj.3	-	19	3805	c.3505G>A	c.(3505-3507)Gct>Act	p.A1169T	NEDD4_uc002adl.3_Missense_Mutation_p.A750T|NEDD4_uc002adi.3_Missense_Mutation_p.A1097T|NEDD4_uc010ugj.2_Missense_Mutation_p.A1153T|NEDD4_uc010bfm.3_Missense_Mutation_p.A1152T|NEDD4_uc002adk.3_Intron	NM_198400	NP_006145	P46934	NEDD4_HUMAN	Homo sapiens neural precursor cell expressed, developmentally down-regulated 4 (NEDD4), transcript variant 2, mRNA.	1169	HECT.				development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	RNA polymerase binding|beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		TTAAAAGCAGCCATTTGCTTC	0.328000														21			13		0	0	1	0	0
TTC21B	79809	broad.mit.edu	37	2	166737287	166737287	+	Missense_Mutation	SNP	T	C	C	rs144130537	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:166737287T>C	uc002udk.3	-	26	3840	c.3707A>G	c.(3706-3708)tAt>tGt	p.Y1236C	TTC21B_uc002udj.2_Non-coding_Transcript	NM_024753	NP_079029	Q7Z4L5	TT21B_HUMAN	Homo sapiens tetratricopeptide repeat domain 21B (TTC21B), mRNA.	1236						cilium axoneme|cytoplasm|cytoskeleton	binding			breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						GTATCCCATATATTCATAAGC	0.368000														31			13		0	0	1	0	0
PSIP1	11168	broad.mit.edu	37	9	15479598	15479598	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:15479598G>A	uc003zlv.4	-	6	874	c.544C>T	c.(544-546)Cga>Tga	p.R182*	PSIP1_uc003zlw.4_Nonsense_Mutation_p.R182*|PSIP1_uc003zlz.4_Nonsense_Mutation_p.R182*|PSIP1_uc003zma.4_Nonsense_Mutation_p.R173*|PSIP1_uc003zly.3_Nonsense_Mutation_p.R182*	NM_033222	NP_150091	O75475	PSIP1_HUMAN	Homo sapiens PC4 and SFRS1 interacting protein 1 (PSIP1), transcript variant 2, mRNA.	182					initiation of viral infection|interspecies interaction between organisms|nuclear mRNA 5'-splice site recognition|provirus integration|regulation of transcription, DNA-dependent|response to heat|response to oxidative stress|transcription, DNA-dependent	cytosol|nuclear heterochromatin|nuclear periphery|nucleoplasm|transcriptionally active chromatin	DNA secondary structure binding|RNA polymerase II transcription coactivator activity|activating transcription factor binding|chromatin binding			breast(2)|endometrium(2)|kidney(1)|lung(3)|prostate(1)	9				GBM - Glioblastoma multiforme(50;2.38e-06)		CCTGCAGGTCGTCCTCTTTTA	0.373000														43			25		0	0	1	0	0
SPEF2	79925	broad.mit.edu	37	5	35691272	35691272	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:35691272C>A	uc003jjo.3	+	10	1769	c.1658C>A	c.(1657-1659)cCt>cAt	p.P553H	SPEF2_uc003jjq.4_Missense_Mutation_p.P553H|SPEF2_uc003jjp.1_Missense_Mutation_p.P44H	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA.	553					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TCAACAACACCTGAATTACCT	0.388000														117			9		0.00448238	0.0046769	1	1	0
HCN2	610	broad.mit.edu	37	19	605215	605215	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:605215G>A	uc002lpe.3	+	2	1264	c.1211G>A	c.(1210-1212)gGc>gAc	p.G404D		NM_001194	NP_001185	Q9UL51	HCN2_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 2 (HCN2), mRNA.	404					cell-cell signaling|muscle contraction	voltage-gated potassium channel complex	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			endometrium(5)|lung(4)	9		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCATCAATGGCATGGTGGTG	0.642000														31			15		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141641410	141641410	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:141641410G>A	uc002tvj.1	-	24	5117	c.4145C>T	c.(4144-4146)gCc>gTc	p.A1382V	LRP1B_uc010fnl.1_Missense_Mutation_p.A564V	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	1382					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CAAAGCAATGGCCCTGGGGTG	0.383000										TSP Lung(27;0.18)				73			40		0	0	1	0	0
BRPF3	27154	broad.mit.edu	37	6	36178155	36178155	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:36178155C>T	uc003olv.4	+	5	2253	c.2029C>T	c.(2029-2031)Cga>Tga	p.R677*	BRPF3_uc010jwb.3_Nonsense_Mutation_p.R677*|BRPF3_uc011dtj.2_Non-coding_Transcript|BRPF3_uc010jwc.3_Non-coding_Transcript|BRPF3_uc011dtk.2_Nonsense_Mutation_p.R677*	NM_015695	NP_056510	Q9ULD4	BRPF3_HUMAN	Homo sapiens bromodomain and PHD finger containing, 3 (BRPF3), mRNA.	677					histone H3 acetylation|platelet activation|platelet degranulation	MOZ/MORF histone acetyltransferase complex|cytosol|extracellular region	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						AATTTTCCACCGAGCAGCTGT	0.572000														34			17		0	0	1	0	0
RANBP10	57610	broad.mit.edu	37	16	67805960	67805960	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:67805960C>T	uc002eud.3	-	2	493	c.377G>A	c.(376-378)gGc>gAc	p.G126D	RANBP10_uc010ceo.3_5'UTR|RANBP10_uc010vju.2_Missense_Mutation_p.G126D|RANBP10_uc010vjv.2_Missense_Mutation_p.G9D|RANBP10_uc010vjx.1_Missense_Mutation_p.G126D|RANBP10_uc010vjy.1_Intron	NM_020850	NP_065901	Q6VN20	RBP10_HUMAN	Homo sapiens RAN binding protein 10 (RANBP10), mRNA.	126	B30.2/SPRY.									endometrium(5)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23		Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157)		CATGTTGACGCCTTGAGCCGA	0.408000														116			13		0	0	1	0	0
ASPM	259266	broad.mit.edu	37	1	197112714	197112714	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:197112714G>T	uc001gtu.3	-	2	925	c.668C>A	c.(667-669)cCt>cAt	p.P223H	ASPM_uc001gtv.3_Missense_Mutation_p.P223H|ASPM_uc001gtw.4_Intron	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	Homo sapiens asp (abnormal spindle) homolog, microcephaly associated (Drosophila) (ASPM), transcript variant 1, mRNA.	223					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						AGGGCTAATAGGTGATATGGG	0.413000														102			5		8.12818e-05	8.84769e-05	1	1	0
ASXL2	55252	broad.mit.edu	37	2	25967097	25967097	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:25967097C>A	uc002rgs.2	-	11	2330	c.2109G>T	c.(2107-2109)gaG>gaT	p.E703D	ASXL2_uc002rgt.1_Missense_Mutation_p.E443D	NM_018263	NP_060733	Q76L83	ASXL2_HUMAN	Homo sapiens additional sex combs like 2 (Drosophila) (ASXL2), mRNA.	703	Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTTCACCACCCTCTCCTGGAC	0.637000														98			26		1.77063e-15	2.23094e-15	1	1	0
ZNF567	163081	broad.mit.edu	37	19	37210117	37210117	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:37210117G>A	uc010xtl.2	+	5	713	c.491G>A	c.(490-492)gGa>gAa	p.G164E	ZNF567_uc002oeo.1_Missense_Mutation_p.G164E|ZNF567_uc010xtk.1_Missense_Mutation_p.G164E|ZNF567_uc002oep.4_Missense_Mutation_p.G133E|ZNF567_uc002oeq.1_Missense_Mutation_p.G133E	NM_152603	NP_689816	Q8N184	ZN567_HUMAN	Homo sapiens zinc finger protein 567 (ZNF567), mRNA.	164					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			GAGTATAATGGATATGGGAAA	0.353000														31			23		0	0	1	0	0
NDST4	64579	broad.mit.edu	37	4	115997817	115997817	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:115997817C>A	uc003ibu.3	-	1	1055	c.376G>T	c.(376-378)Ggg>Tgg	p.G126W	NDST4_uc010imw.3_Intron	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 (NDST4), mRNA.	126	Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	p.K125E(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		GTATATTTCCCTTTGCCATTA	0.373000														55			7		2.0095e-06	2.27092e-06	1	1	0
CD300C	10871	broad.mit.edu	37	17	72540830	72540830	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:72540830G>A	uc002jky.1	-	1	679	c.318C>T	c.(316-318)ggC>ggT	p.G106G		NM_006678	NP_006669	Q08708	CLM6_HUMAN	Homo sapiens CD300c molecule (CD300C), mRNA.	106	Ig-like V-type.				cellular defense response	integral to plasma membrane	transmembrane receptor activity	p.A105E(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|skin(2)|upper_aerodigestive_tract(1)	21						ACCAGTAGGTGCCTGCGTCCT	0.572000														39			23		0	0	1	0	0
DST	667	broad.mit.edu	37	6	56391170	56391170	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:56391170G>A	uc003pcy.4	-	49	10357	c.10249C>T	c.(10249-10251)Cga>Tga	p.R3417*		NM_015548	NP_056363	Q03001	DYST_HUMAN	Homo sapiens dystonin (DST), transcript variant 1eA, mRNA.	5829					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	Z disc|actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein C-terminus binding|protein binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TGCTGTGATCGCAGAATGGCT	0.443000														43			21		0	0	1	0	0
CDX4	1046	broad.mit.edu	37	X	72667186	72667186	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:72667186G>A	uc011mqk.2	+	0	97	c.97G>A	c.(97-99)Ggg>Agg	p.G33R		NM_005193	NP_005184	O14627	CDX4_HUMAN	Homo sapiens caudal type homeobox 4 (CDX4), mRNA.	33						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|skin(1)	18	Renal(35;0.156)					AGGCGGCACAGGGGGCGGTGG	0.607000														23			7		0	0	1	0	0
NOB1	28987	broad.mit.edu	37	16	69786169	69786169	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:69786169G>T	uc002exs.3	-	2	318	c.302C>A	c.(301-303)tCt>tAt	p.S101Y		NM_014062	NP_054781	Q9ULX3	NOB1_HUMAN	Homo sapiens NIN1/RPN12 binding protein 1 homolog (S. cerevisiae) (NOB1), mRNA.	101	PINc.					nucleus	metal ion binding|protein binding			breast(2)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						TTTTAGGTGAGACACCCCAAC	0.433000														121			34		2.20474e-14	2.7607e-14	1	1	0
SLC5A8	160728	broad.mit.edu	37	12	101598314	101598314	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:101598314A>G	uc001thz.4	-	1	771	c.381T>C	c.(379-381)gtT>gtC	p.V127V		NM_145913	NP_666018	Q8N695	SC5A8_HUMAN	Homo sapiens solute carrier family 5 (iodide transporter), member 8 (SLC5A8), mRNA.	127					apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CACAGAGACGAACACATTTGT	0.333000														50			6		0	0	1	0	0
PDHA2	5161	broad.mit.edu	37	4	96761711	96761711	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:96761711C>T	uc003htr.4	+	0	473	c.410C>T	c.(409-411)aCg>aTg	p.T137M		NM_005390	NP_005381	P29803	ODPAT_HUMAN	Homo sapiens pyruvate dehydrogenase (lipoamide) alpha 2 (PDHA2), mRNA.	137					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity	p.T137M(2)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	GCAGAGCTGACGGGAAGAAGA	0.527000														47			23		0	0	1	0	0
ZCCHC5	203430	broad.mit.edu	37	X	77913581	77913581	+	Nonsense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:77913581C>A	uc022bzi.1	-	0	337	c.337G>T	c.(337-339)Gag>Tag	p.E113*	ZCCHC5_uc004edc.1_Nonsense_Mutation_p.E113*	NM_152694	NP_689907	Q8N8U3	ZCHC5_HUMAN	Homo sapiens zinc finger, CCHC domain containing 5 (ZCCHC5), mRNA.	113	Pro-rich.						nucleic acid binding|zinc ion binding	p.P112P(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						GCCAGGGACTCTGGGGCTGCT	0.637000														20			4		0.00024832	0.000267289	1	1	0
MYLK	4638	broad.mit.edu	37	3	123451899	123451899	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:123451899C>T	uc003ego.3	-	10	1642	c.1360G>A	c.(1360-1362)Gtg>Atg	p.V454M	MYLK_uc011bjw.2_Missense_Mutation_p.V454M|MYLK_uc003egp.3_Intron|MYLK_uc003egq.3_Missense_Mutation_p.V454M|MYLK_uc003egr.3_Intron|MYLK_uc003egs.3_Missense_Mutation_p.V278M	NM_053025	NP_444253	Q15746	MYLK_HUMAN	Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA.	454	Ig-like C2-type 3.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	ATP binding|actin binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	p.P453A(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		TGTCTCCTCACGGGGGTGCCT	0.577000														14			11		0	0	1	0	0
RBM19	9904	broad.mit.edu	37	12	114352798	114352798	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:114352798C>T	uc009zwi.2	-	20	2678	c.2534G>A	c.(2533-2535)aGc>aAc	p.S845N	RBM19_uc001tvn.4_Missense_Mutation_p.S845N|RBM19_uc001tvm.3_Missense_Mutation_p.S845N	NM_001146699	NP_057280	Q9Y4C8	RBM19_HUMAN	Homo sapiens RNA binding motif protein 19 (RBM19), transcript variant 1, mRNA.	845	RRM 6.				multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	RNA binding|nucleotide binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					GATCTCCCGGCTGTGGGCCTG	0.602000														91			40		0	0	1	0	0
SKAP1	8631	broad.mit.edu	37	17	46423329	46423329	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:46423329C>T	uc002ini.1	-	3	330	c.218G>A	c.(217-219)aGc>aAc	p.S73N	SKAP1_uc002inj.1_Missense_Mutation_p.S73N|SKAP1_uc010dbd.1_5'UTR|SKAP1_uc010dbe.1_Missense_Mutation_p.S73N	NM_003726	NP_003717	Q86WV1	SKAP1_HUMAN	Homo sapiens src kinase associated phosphoprotein 1 (SKAP1), transcript variant 1, mRNA.	73					T cell receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus|plasma membrane	SH2 domain binding|antigen binding|protein kinase binding			large_intestine(1)|lung(10)|prostate(2)|skin(4)|urinary_tract(1)	18						AAGAGTCCCGCTGTGATTATC	0.448000														11			13		0	0	1	0	0
TYRP1	7306	broad.mit.edu	37	9	12695729	12695729	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:12695729C>T	uc003zkv.4	+	2	778	c.600C>T	c.(598-600)ttC>ttT	p.F200F		NM_000550	NP_000541	P17643	TYRP1_HUMAN	Homo sapiens tyrosinase-related protein 1 (TYRP1), mRNA.	200					melanin biosynthetic process	clathrin-coated endocytic vesicle membrane|endosome membrane|integral to membrane|melanosome membrane	copper ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen|protein heterodimerization activity|protein homodimerization activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1)	22		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)		GBM - Glioblastoma multiforme(50;9.85e-06)		AAAAGACTTTCCTTGGGGTAG	0.448000									Oculocutaneous Albinism					57			28		0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100680859	100680859	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100680859G>A	uc003uxp.1	+	2	6215	c.6162G>A	c.(6160-6162)acG>acA	p.T2054T	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	2054	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)					TCAGCACTACGCTTGTGGTCA	0.493000														59			94		0	0	1	0	0
CSF1R	1436	broad.mit.edu	37	5	149435686	149435686	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:149435686C>T	uc003lrl.3	-	17	2652	c.2457G>A	c.(2455-2457)gtG>gtA	p.V819V	CSF1R_uc011dcd.2_Intron|CSF1R_uc010jhc.3_Non-coding_Transcript|CSF1R_uc003lrm.3_Silent_p.V819V	NM_005211	NP_005202	P07333	CSF1R_HUMAN	Homo sapiens colony stimulating factor 1 receptor (CSF1R), mRNA.	819	Protein kinase.				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	CCATCCACTTCACAGGCAGGC	0.592000														12			13		0	0	1	0	0
ELN	2006	broad.mit.edu	37	7	73475434	73475434	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:73475434C>A	uc003tzw.3	+	25	1860	c.1769C>A	c.(1768-1770)cCt>cAt	p.P590H	ELN_uc003tzn.3_Missense_Mutation_p.P584H|ELN_uc003tzy.3_Missense_Mutation_p.P560H|ELN_uc003tzz.3_Missense_Mutation_p.P503H|ELN_uc003tzo.3_Missense_Mutation_p.P536H|ELN_uc003tzp.3_Missense_Mutation_p.P495H|ELN_uc003tzq.3_Missense_Mutation_p.P448H|ELN_uc003tzr.3_Non-coding_Transcript|ELN_uc003tzs.3_Missense_Mutation_p.P565H|ELN_uc003tzt.3_Missense_Mutation_p.P589H|ELN_uc003tzu.3_Missense_Mutation_p.P570H|ELN_uc003tzv.3_Missense_Mutation_p.P555H|ELN_uc011kfe.2_Non-coding_Transcript|ELN_uc003tzx.3_Missense_Mutation_p.P574H|ELN_uc011kff.2_Missense_Mutation_p.P584H	NM_000501	NP_001075224	P15502	ELN_HUMAN	Homo sapiens elastin (ELN), transcript variant 1, mRNA.	646	Ala-rich.				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)			Rofecoxib(DB00533)	TCCCCAGTACCTGGAGCCCTG	0.597000			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""							67			17		4.75885e-15	5.98547e-15	1	1	0
NBR1	4077	broad.mit.edu	37	17	41347051	41347051	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:41347051C>A	uc010whv.2	+	13	1828	c.1745C>A	c.(1744-1746)cCt>cAt	p.P582H	NBR1_uc010czd.3_Missense_Mutation_p.P582H|NBR1_uc010diz.3_Missense_Mutation_p.P582H|NBR1_uc010whu.2_Missense_Mutation_p.P582H|NBR1_uc010whw.2_Missense_Mutation_p.P561H|NBR1_uc010whx.1_3'UTR	NM_005899	NP_114068	Q14596	NBR1_HUMAN	Homo sapiens neighbor of BRCA1 gene 1 (NBR1), transcript variant 1, mRNA.	582	ATG8 family protein-binding.				macroautophagy|protein oligomerization	autophagic vacuole|cytoplasmic vesicle|cytosol|late endosome|lysosome|sarcomere	ubiquitin binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	24		Breast(137;0.00086)		BRCA - Breast invasive adenocarcinoma(366;0.0934)		CACAACACCCCTGTGGGTAAG	0.418000														12			8		5.50884e-06	6.15991e-06	1	1	0
IGF2R	3482	broad.mit.edu	37	6	160485509	160485509	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:160485509G>T	uc003qta.3	+	27	4111	c.3963G>T	c.(3961-3963)aaG>aaT	p.K1321N		NM_000876	NP_000867	P11717	MPRI_HUMAN	Homo sapiens insulin-like growth factor 2 receptor (IGF2R), mRNA.	1321					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		CTTGCCATAAGGTTTATCAGC	0.522000														113			15		2.32078e-09	2.76369e-09	1	1	0
COPB1	1315	broad.mit.edu	37	11	14490987	14490987	+	Missense_Mutation	SNP	C	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:14490987C>G	uc001mlh.2	-	14	2106	c.1860G>C	c.(1858-1860)ttG>ttC	p.L620F	COPB1_uc001mli.2_Missense_Mutation_p.L620F|COPB1_uc001mlg.2_Missense_Mutation_p.L620F	NM_001144061	NP_057535	P53618	COPB_HUMAN	Homo sapiens coatomer protein complex, subunit beta 1 (COPB1), transcript variant 2, mRNA.	620					COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|ER-Golgi intermediate compartment|cytosol|plasma membrane	protein binding|structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						AACATTCAGACAAGACCTTGA	0.398000														122			19		0	0	1	0	0
FREM1	158326	broad.mit.edu	37	9	14819255	14819255	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:14819255G>A	uc003zlm.3	-	14	3339	c.2523C>T	c.(2521-2523)ggC>ggT	p.G841G	FREM1_uc010mic.3_Non-coding_Transcript	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.	841					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	p.S840fs*8(1)		breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TATGGAGATCGCCCCAAGAAA	0.423000														28			6		0	0	1	0	0
PKP3	11187	broad.mit.edu	37	11	396684	396684	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:396684C>A	uc021qbk.1	+	2	383	c.354C>A	c.(352-354)acC>acA	p.T118T	PKP3_uc001lpc.3_Silent_p.T103T	NM_007183	NP_009114	Q9Y446	PKP3_HUMAN	Homo sapiens plakophilin 3 (PKP3), mRNA.	103					cell adhesion	desmosome|nucleus	binding			breast(1)|central_nervous_system(1)|endometrium(3)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGGACAAGACCTCGGTGAGCG	0.672000														12			9		0.000442599	0.000473562	1	1	0
HEATR7B2	133558	broad.mit.edu	37	5	41000856	41000856	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:41000856A>C	uc003jmj.4	-	37	4764	c.4274T>G	c.(4273-4275)tTt>tGt	p.F1425C	HEATR7B2_uc003jmi.4_Missense_Mutation_p.F980C	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	1425							binding			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						TTCAGCAAAAAAAATCTTCCA	0.458000														7			11		0	0	1	0	0
SOX7	83595	broad.mit.edu	37	8	10583614	10583614	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:10583614G>A	uc011kwz.2	-	5	990	c.957C>T	c.(955-957)ggC>ggT	p.G319G	SOX7_uc003wtf.3_Silent_p.G267G	NM_031439	NP_113627	Q9BT81	SOX7_HUMAN	Homo sapiens SRY (sex determining region Y)-box 7 (SOX7), mRNA.	267	Sox C-terminal.				endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway	cytoplasm|nucleus	transcription regulatory region DNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				COAD - Colon adenocarcinoma(149;0.0732)		TCATGGAGACGCCGGGGGACT	0.677000														19			19		0	0	1	0	0
RAB3GAP2	25782	broad.mit.edu	37	1	220356155	220356155	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:220356155C>A	uc010puk.1	-	19	2281	c.2117G>T	c.(2116-2118)gGt>gTt	p.G706V	RAB3GAP2_uc021pjf.1_Missense_Mutation_p.G706V|RAB3GAP2_uc001hmf.2_Non-coding_Transcript|RAB3GAP2_uc001hmg.2_Missense_Mutation_p.G286V	NM_012414	NP_036546	Q9H2M9	RBGPR_HUMAN	Homo sapiens RAB3 GTPase activating protein subunit 2 (non-catalytic) (RAB3GAP2), mRNA.	706					intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		AGGCAACACACCATCTTTATC	0.353000														77			6		0.0293803	0.0299714	1	1	0
CDAN1	146059	broad.mit.edu	37	15	43023931	43023931	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:43023931C>T	uc001zql.3	-	10	1743	c.1626G>A	c.(1624-1626)ttG>ttA	p.L542L	CDAN1_uc001zqj.3_5'Flank|CDAN1_uc001zqk.3_5'UTR	NM_138477	NP_612486	Q8IWY9	CDAN1_HUMAN	Homo sapiens congenital dyserythropoietic anemia, type I (CDAN1), mRNA.	542						integral to membrane	protein binding	p.R541Q(1)		endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		GTAGGCGCCACAACCGCCCCA	0.632000														64			8		0	0	1	0	0
MRVI1	10335	broad.mit.edu	37	11	10673640	10673640	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:10673640T>C	uc010rcc.1	-	1	543	c.157A>G	c.(157-159)Atg>Gtg	p.M53V	MRVI1_uc010rcb.1_Missense_Mutation_p.M44V|MRVI1_uc001miw.2_Missense_Mutation_p.M44V|MRVI1_uc001mix.3_5'UTR|MRVI1_uc001miz.2_Intron|MRVI1_uc010rcd.1_Missense_Mutation_p.M53V|MRVI1_uc009ygd.1_Intron	NM_130385	NP_569056	Q9Y6F6	MRVI1_HUMAN	Homo sapiens murine retrovirus integration site 1 homolog (MRVI1), transcript variant 2, mRNA.	44					platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		ATGTGGGGCATGGCAGCCTCC	0.687000														10			8		0	0	1	0	0
OR6M1	390261	broad.mit.edu	37	11	123676598	123676598	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:123676598C>T	uc010rzz.2	-	0	460	c.460G>A	c.(460-462)Gtg>Atg	p.V154M		NM_001005325	NP_001005325	Q8NGM8	OR6M1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily M, member 1 (OR6M1), mRNA.	154					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1)	29		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)		GGAAACAACACAGACAGGAAG	0.498000														43			4		0	0	1	0	0
ZNF521	25925	broad.mit.edu	37	18	22805397	22805397	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:22805397G>A	uc002kvk.2	-	3	2732	c.2485C>T	c.(2485-2487)Cga>Tga	p.R829*	ZNF521_uc010xbe.1_Non-coding_Transcript|ZNF521_uc010dly.2_Nonsense_Mutation_p.R829*|ZNF521_uc002kvl.2_Nonsense_Mutation_p.R609*	NM_015461	NP_056276	Q96K83	ZN521_HUMAN	Homo sapiens zinc finger protein 521 (ZNF521), mRNA.	829					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding	p.R829L(1)		NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					TGTTTTTCTCGCAAGTGTTTT	0.458000			T	PAX5	ALL									88			53		0	0	1	0	0
GCN1L1	10985	broad.mit.edu	37	12	120613992	120613992	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:120613992C>T	uc001txo.3	-	9	880	c.867G>A	c.(865-867)acG>acA	p.T289T		NM_006836	NP_006827	Q92616	GCN1L_HUMAN	Homo sapiens GCN1 general control of amino-acid synthesis 1-like 1 (yeast) (GCN1L1), mRNA.	289					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TGAGGTCAAGCGTCACTGATG	0.483000														44			30		0	0	1	0	0
DAXX	1616	broad.mit.edu	37	6	33288606	33288606	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:33288606C>T	uc003oec.3	-	2	1150	c.946G>A	c.(946-948)Gcc>Acc	p.A316T	ZBTB22_uc010juu.3_5'Flank|DAXX_uc021ywn.1_Missense_Mutation_p.A316T|DAXX_uc021ywo.1_Missense_Mutation_p.A316T|DAXX_uc011dre.2_Missense_Mutation_p.A328T|DAXX_uc003oed.3_Missense_Mutation_p.A316T|DAXX_uc011drd.2_Missense_Mutation_p.A241T|DAXX_uc010juw.2_Missense_Mutation_p.A241T	NM_001350	NP_001241646	Q9UER7	DAXX_HUMAN	Homo sapiens death-domain associated protein (DAXX), transcript variant 2, mRNA.	316					activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	PML body|chromosome, centromeric region|cytosol|nucleolus	androgen receptor binding|heat shock protein binding|p53 binding|protein N-terminus binding|protein homodimerization activity|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding	p.D315V(1)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						TCTCGGAAGGCATCCTGAGCC	0.587000			"""Mis, F, N"""		Pancreatic neuroendocrine tumors. Paediatric GBM									68			43		0	0	1	0	0
MAN2B2	23324	broad.mit.edu	37	4	6595014	6595014	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:6595014C>A	uc003gjf.1	+	5	831	c.795C>A	c.(793-795)gcC>gcA	p.A265A	MAN2B2_uc003gje.1_Silent_p.A265A|MAN2B2_uc011bwf.1_Intron	NM_015274	NP_056089	Q9Y2E5	MA2B2_HUMAN	Homo sapiens mannosidase, alpha, class 2B, member 2 (MAN2B2), mRNA.	265					mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding			breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						ATGCCGAGGCCCTGGTGGCCA	0.632000														25			17		1.01871e-10	1.23424e-10	1	1	0
OR8B2	26595	broad.mit.edu	37	11	124252823	124252823	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:124252823C>A	uc010sai.2	-	0	417	c.417G>T	c.(415-417)caG>caT	p.Q139H		NM_001005468	NP_001005468	Q96RD0	OR8B2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily B, member 2 (OR8B2), mRNA.	139					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1)	23		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		TAGAACAGACCTGATGGGACA	0.463000														13			8		5.4927e-09	6.49148e-09	1	1	0
TRIM28	10155	broad.mit.edu	37	19	59061781	59061781	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:59061781G>A	uc002qtg.1	+	16	2658	c.2369G>A	c.(2368-2370)cGc>cAc	p.R790H	TRIM28_uc010eut.1_Missense_Mutation_p.R708H|TRIM28_uc002qth.1_Missense_Mutation_p.R405H	NM_005762	NP_005753	Q13263	TIF1B_HUMAN	Homo sapiens tripartite motif containing 28 (TRIM28), mRNA.	790	Bromo.				epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent	nucleoplasm	chromo shadow domain binding|ligase activity|transcription corepressor activity|zinc ion binding			biliary_tract(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		GGCCTGCAGCGCTTCTTCGAG	0.602000														38			22		0	0	1	0	0
CEP250	11190	broad.mit.edu	37	20	34099322	34099322	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:34099322C>T	uc021wco.1	+	34	7843	c.7196C>T	c.(7195-7197)gCc>gTc	p.A2399V	CEP250_uc010zve.2_Missense_Mutation_p.A1767V	NM_007186	NP_009117	Q9BV73	CP250_HUMAN	Homo sapiens centrosomal protein 250kDa (CEP250), mRNA.	2399					G2/M transition of mitotic cell cycle|centriole-centriole cohesion|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			CTTGCCGTGGCCCAGGCCCCT	0.632000														39			18		0	0	1	0	0
SLC7A14	57709	broad.mit.edu	37	3	170204111	170204111	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:170204111T>C	uc003fgz.2	-	4	1122	c.806A>G	c.(805-807)gAc>gGc	p.D269G	CLDN11_uc011bpt.1_Intron|CLDN11_uc003fha.1_Intron	NM_020949	NP_066000	Q8TBB6	S7A14_HUMAN	Homo sapiens solute carrier family 7 (orphan transporter), member 14 (SLC7A14), mRNA.	269						integral to membrane	amino acid transmembrane transporter activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			GGCGATGATGTCAAAGCCAAT	0.527000														32			17		0	0	1	0	0
MYO5A	4644	broad.mit.edu	37	15	52613635	52613635	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:52613635C>T	uc002aby.2	-	36	5041	c.4797G>A	c.(4795-4797)cgG>cgA	p.R1599R	MYO5A_uc002abx.3_Silent_p.R1572R|MYO5A_uc010ugd.1_Silent_p.R321R	NM_000259	NP_000250	Q9Y4I1	MYO5A_HUMAN	Homo sapiens myosin VA (heavy chain 12, myoxin) (MYO5A), transcript variant 1, mRNA.	1599	Dilute.				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		TCAGCACCTGCCGATACTCAG	0.502000														51			45		0	0	1	0	0
RIMS2	9699	broad.mit.edu	37	8	104897549	104897549	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:104897549G>T	uc003yls.3	+	1	297	c.56G>T	c.(55-57)aGa>aTa	p.R19I	RIMS2_uc003ylp.3_Missense_Mutation_p.R241I|RIMS2_uc003ylw.2_Missense_Mutation_p.R49I|RIMS2_uc003ylq.3_Missense_Mutation_p.R49I|RIMS2_uc003ylr.3_Missense_Mutation_p.R49I	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA.	272					intracellular protein transport	cell junction|presynaptic membrane	Rab GTPase binding|metal ion binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TCTGTGTCCAGAGATCAGAAT	0.388000										HNSCC(12;0.0054)				23			11		2.68362e-12	3.30521e-12	1	1	0
TBC1D8B	54885	broad.mit.edu	37	X	106108807	106108807	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:106108807G>T	uc004emo.3	+	14	2536	c.2371G>T	c.(2371-2373)Gat>Tat	p.D791Y	MORC4_uc004emp.4_Intron	NM_017752	NP_060222	Q0IIM8	TBC8B_HUMAN	Homo sapiens TBC1 domain family, member 8B (with GRAM domain) (TBC1D8B), transcript variant 1, mRNA.	791						intracellular	Rab GTPase activator activity|calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TGTATCACAAGATGTGAAATT	0.289000														46			25		5.09552e-08	5.93115e-08	1	1	0
URB2	9816	broad.mit.edu	37	1	229773414	229773414	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:229773414C>A	uc001hts.1	+	3	3190	c.3054C>A	c.(3052-3054)agC>agA	p.S1018R	URB2_uc009xfd.1_Missense_Mutation_p.S1018R	NM_014777	NP_055592	Q14146	URB2_HUMAN	Homo sapiens URB2 ribosome biogenesis 2 homolog (S. cerevisiae) (URB2), mRNA.	1018						nucleolus				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						TGAAGCTGAGCTTGGTGCTCA	0.453000														45			20		0.000132079	0.000143489	1	1	0
MDGA2	161357	broad.mit.edu	37	14	47530712	47530712	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:47530712C>T	uc001wwj.4	-	6	1423	c.1265G>A	c.(1264-1266)cGt>cAt	p.R422H	MDGA2_uc001wwi.4_Missense_Mutation_p.R124H|MDGA2_uc010ani.3_5'UTR	NM_001113498	NP_878250	Q7Z553	MDGA2_HUMAN	Homo sapiens MAM domain containing glycosylphosphatidylinositol anchor 2 (MDGA2), transcript variant 1, mRNA.	353	Ig-like 4.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						TTTCACCTCACGGCCAATCTG	0.383000														53			19		0	0	1	0	0
VDR	7421	broad.mit.edu	37	12	48251023	48251023	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:48251023G>A	uc001rql.3	-	5	1023	c.622C>T	c.(622-624)Cgt>Tgt	p.R208C	VDR_uc001rqm.3_Missense_Mutation_p.R158C|VDR_uc001rqn.3_Missense_Mutation_p.R158C|VDR_uc010slq.2_Missense_Mutation_p.R126C	NM_001017536	NP_001017536	P11473	VDR_HUMAN	Homo sapiens vitamin D (1,25- dihydroxyvitamin D3) receptor (VDR), transcript variant 3, mRNA.	158	Ligand-binding.				decidualization|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of vitamin D 24-hydroxylase activity|regulation of calcidiol 1-monooxygenase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid X receptor binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|vitamin D3 receptor activity|zinc ion binding	p.S208I(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(3)|skin(2)	22		Acute lymphoblastic leukemia(13;0.109)|all_hematologic(14;0.214)		GBM - Glioblastoma multiforme(48;0.17)	Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Dihydrotachysterol(DB01070)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	TCATTCACACGAACTGGAGGC	0.552000														24			11		0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	17089500	17089500	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:17089500C>T	uc001ioo.3	-	22	3294	c.3242G>A	c.(3241-3243)aGa>aAa	p.R1081K		NM_001081	NP_001072	O60494	CUBN_HUMAN	Homo sapiens cubilin (intrinsic factor-cobalamin receptor) (CUBN), mRNA.	1081	CUB 6.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TTGGCCAGTTCTCACTGTGAT	0.413000														31			25		0	0	1	0	0
MECP2	4204	broad.mit.edu	37	X	153296283	153296283	+	Silent	SNP	G	A	A	rs61751369		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153296283G>A	uc004fjv.2	-	3	1222	c.996C>T	c.(994-996)agC>agT	p.S332S	MECP2_uc004fjw.2_Silent_p.S344S	NM_004992	NP_004983	P51608	MECP2_HUMAN	Homo sapiens methyl CpG binding protein 2 (Rett syndrome) (MECP2), transcript variant 1, mRNA.	332					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	heterochromatin|nucleus	double-stranded methylated DNA binding|protein N-terminus binding|protein domain specific binding|transcription corepressor activity			breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1)	23	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GTCCTTTCCCGCTCTTCTCAC	0.627000														52			36		0	0	1	0	0
MAN1A1	4121	broad.mit.edu	37	6	119669662	119669662	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:119669662G>A	uc003pym.1	-	1	1011	c.569C>T	c.(568-570)gCc>gTc	p.A190V	MAN1A1_uc010kei.2_Missense_Mutation_p.A190V	NM_005907	NP_005898	P33908	MA1A1_HUMAN	Homo sapiens mannosidase, alpha, class 1A, member 1 (MAN1A1), mRNA.	190					post-translational protein modification|protein N-linked glycosylation via asparagine	ER-Golgi intermediate compartment|Golgi membrane|endoplasmic reticulum|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3)	24		all_epithelial(87;0.173)		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)		GCGGATGGCGGCGTCGGCGGG	0.662000														16			13		0	0	1	0	0
SULT1B1	27284	broad.mit.edu	37	4	70596338	70596338	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:70596338A>C	uc003hen.3	-	6	957	c.659T>G	c.(658-660)aTc>aGc	p.I220S		NM_014465	NP_055280	O43704	ST1B1_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 1B, member 1 (SULT1B1), mRNA.	220					3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process	cytosol				breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1)	24						CCTATCCAAGATCTCATCATT	0.358000														30			5		0	0	1	0	0
MUT	4594	broad.mit.edu	37	6	49412430	49412430	+	Missense_Mutation	SNP	C	T	T	rs139765234		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:49412430C>T	uc003ozg.4	-	8	1863	c.1598G>A	c.(1597-1599)tGt>tAt	p.C533Y		NM_000255	NP_000246	P22033	MUTA_HUMAN	Homo sapiens methylmalonyl CoA mutase (MUT), nuclear gene encoding mitochondrial protein, mRNA.	533					fatty acid beta-oxidation	mitochondrial matrix	cobalamin binding|metal ion binding|methylmalonyl-CoA mutase activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	30	Lung NSC(77;0.0376)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TGCAGCAAGACAACGTTCAGC	0.438000														87			64		0	0	1	0	0
ZNF330	27309	broad.mit.edu	37	4	142151400	142151400	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:142151400G>A	uc003iiq.4	+	6	719	c.499G>A	c.(499-501)Gtt>Att	p.V167I	ZNF330_uc011chl.2_Missense_Mutation_p.V107I	NM_014487	NP_055302	Q9Y3S2	ZN330_HUMAN	Homo sapiens zinc finger protein 330 (ZNF330), mRNA.	167						chromosome, centromeric region|midbody|nucleolus	protein binding|zinc ion binding			kidney(1)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	14	all_hematologic(180;0.162)					CAGCTGCCAGGTTTTAGAGGC	0.308000														44			30		0	0	1	0	0
ZNF746	155061	broad.mit.edu	37	7	149174013	149174013	+	Splice_Site	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:149174013C>A	uc010lpi.2	-	6	1109	c.838_splice	c.e6+1	p.A280_splice	ZNF746_uc003wfw.2_Splice_Site_p.D280_splice	NM_001163474	NP_001156946	Q6NUN9	ZN746_HUMAN	Homo sapiens zinc finger protein 746 (ZNF746), transcript variant 1, mRNA.	279					negative regulation of transcription, DNA-dependent|neuron death|regulation of cell death|transcription, DNA-dependent	cytoplasm|nucleus	transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			CCACCTGTACCTTCCGTGGAG	0.612000														227			11		0.000219431	0.000236831	1	1	0
GPR32	2854	broad.mit.edu	37	19	51274326	51274326	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:51274326C>T	uc010ycf.2	+	0	469	c.469C>T	c.(469-471)Cgg>Tgg	p.R157W		NM_001506	NP_001497	O75388	GPR32_HUMAN	Homo sapiens G protein-coupled receptor 32 (GPR32), mRNA.	157						integral to plasma membrane	N-formyl peptide receptor activity			breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		CACTGTGCAGCGGGCGAGCTG	0.597000														63			7		0	0	1	0	0
ERMP1	79956	broad.mit.edu	37	9	5812918	5812918	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:5812918C>T	uc003zjm.1	-	4	1046	c.992G>A	c.(991-993)cGt>cAt	p.R331H	ERMP1_uc022bdc.1_Non-coding_Transcript|ERMP1_uc022bdd.1_Non-coding_Transcript|ERMP1_uc010mhs.1_5'UTR|ERMP1_uc003zjn.1_Missense_Mutation_p.R331H	NM_024896	NP_079172	Q7Z2K6	ERMP1_HUMAN	Homo sapiens endoplasmic reticulum metallopeptidase 1 (ERMP1), mRNA.	331					proteolysis	endoplasmic reticulum membrane|integral to membrane	metal ion binding|metallopeptidase activity			endometrium(2)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|skin(1)	20		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00115)|Lung(218;0.111)		CCTGTAGATACGAAAGTCAGT	0.388000														83			6		0	0	1	0	0
ZNF266	10781	broad.mit.edu	37	19	9524262	9524262	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9524262G>A	uc010dwq.3	-	8	2547	c.1339C>T	c.(1339-1341)Cat>Tat	p.H447Y	ZNF266_uc002mll.3_Missense_Mutation_p.H447Y|ZNF266_uc002mlm.3_Missense_Mutation_p.H447Y|ZNF266_uc002mln.3_Missense_Mutation_p.H447Y|ZNF266_uc002mlo.3_Missense_Mutation_p.H447Y	NM_198058	NP_932175	Q14584	ZN266_HUMAN	Homo sapiens zinc finger protein 266 (ZNF266), mRNA.	447					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(2)|large_intestine(11)|lung(8)|ovary(1)|skin(2)|stomach(1)	28						CTGGAGGAATGCGTAAATGCT	0.428000														31			14		0	0	1	0	0
C9orf11	54586	broad.mit.edu	37	9	27284734	27284734	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:27284734G>A	uc003zql.3	-	7	956	c.872C>T	c.(871-873)tCg>tTg	p.S291L	LINC00032_uc010mjd.2_5'Flank|C9orf11_uc011lnq.2_Missense_Mutation_p.S262L	NM_020641	NP_065692	Q9NQ60	AFAF_HUMAN	Homo sapiens chromosome 9 open reading frame 11 (C9orf11), transcript variant 1, mRNA.	291						acrosomal membrane|integral to membrane		p.S291S(1)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	17				OV - Ovarian serous cystadenocarcinoma(39;7.39e-08)|Lung(218;1.26e-05)|LUSC - Lung squamous cell carcinoma(38;0.000106)		CCGGGTAACCGACTCATCGTT	0.348000														62			7		0	0	1	0	0
IBTK	25998	broad.mit.edu	37	6	82883097	82883097	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:82883097G>T	uc003pjl.1	-	26	4311	c.3784C>A	c.(3784-3786)Cta>Ata	p.L1262I	IBTK_uc011dyu.1_Missense_Mutation_p.L213I|IBTK_uc011dyv.1_Missense_Mutation_p.L1247I|IBTK_uc011dyw.1_Missense_Mutation_p.L1061I|IBTK_uc010kbi.1_Missense_Mutation_p.L956I	NM_015525	NP_056340	Q9P2D0	IBTK_HUMAN	Homo sapiens inhibitor of Bruton agammaglobulinemia tyrosine kinase (IBTK), mRNA.	1262					negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity			central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		GGACTGTCTAGAAGTGGTAAA	0.413000														53			19		4.54149e-19	5.83852e-19	1	1	0
DUOX1	53905	broad.mit.edu	37	15	45454097	45454097	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:45454097G>T	uc001zus.1	+	30	4364	c.4018G>T	c.(4018-4020)Ggg>Tgg	p.G1340W	DUOX1_uc001zut.1_Missense_Mutation_p.G1340W|DUOX1_uc010bee.1_Missense_Mutation_p.G720W	NM_017434	NP_787954	Q9NRD9	DUOX1_HUMAN	Homo sapiens dual oxidase 1 (DUOX1), transcript variant 1, mRNA.	1340	FAD-binding FR-type.				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	NAD(P)H oxidase activity|NADP binding|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|peroxidase activity	p.G1340V(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		CCGGGCAGCAGGGCCCTGGAC	0.632000														18			6		0.0215528	0.0220531	1	1	0
ZNF681	148213	broad.mit.edu	37	19	23926698	23926698	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:23926698G>A	uc002nrk.4	-	3	1796	c.1654C>T	c.(1654-1656)Cat>Tat	p.H552Y	ZNF681_uc002nrl.4_Missense_Mutation_p.H483Y|ZNF681_uc002nrj.4_Missense_Mutation_p.H483Y	NM_138286	NP_612143	Q96N22	ZN681_HUMAN	Homo sapiens zinc finger protein 681 (ZNF681), mRNA.	552					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				ATTACCTTATGTGTAGCAAGA	0.383000														23			11		0	0	1	0	0
HRC	3270	broad.mit.edu	37	19	49658016	49658016	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:49658016T>C	uc002pmv.3	-	0	666	c.479A>G	c.(478-480)cAt>cGt	p.H160R	TRPM4_uc002pmw.3_5'Flank|TRPM4_uc010emu.3_5'Flank|TRPM4_uc010yak.2_5'Flank|TRPM4_uc002pmx.3_5'Flank|TRPM4_uc010emv.3_5'Flank|TRPM4_uc010yal.2_5'Flank	NM_002152	NP_002143	P23327	SRCH_HUMAN	Homo sapiens histidine rich calcium binding protein (HRC), mRNA.	160	4 X tandem repeats, acidic.|6 X approximate tandem repeats.				muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		CTCGTCTTGATGGCTGTGGCT	0.582000														41			13		0	0	1	0	0
CAPN7	23473	broad.mit.edu	37	3	15292681	15292681	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:15292681C>T	uc003bzn.3	+	20	2626	c.2356C>T	c.(2356-2358)Cct>Tct	p.P786S		NM_014296	NP_055111	Q9Y6W3	CAN7_HUMAN	Homo sapiens calpain 7 (CAPN7), mRNA.	786	Domain N.				proteolysis	nucleus	calcium-dependent cysteine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|skin(2)	22						CAATATCATTCCTAGTACCTT	0.338000														77			51		0	0	1	0	0
NOL11	25926	broad.mit.edu	37	17	65732040	65732040	+	Missense_Mutation	SNP	T	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:65732040T>A	uc002jgd.1	+	8	958	c.955T>A	c.(955-957)Ttt>Att	p.F319I	NOL11_uc010wql.1_Missense_Mutation_p.F137I|NOL11_uc010deu.1_5'UTR	NM_015462	NP_056277	Q9H8H0	NOL11_HUMAN	Homo sapiens nucleolar protein 11 (NOL11), mRNA.	319						nucleolus				haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	11	all_cancers(12;1.54e-10)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0518)|COAD - Colon adenocarcinoma(4;0.0977)|LUSC - Lung squamous cell carcinoma(166;0.24)			AGAACATTTGTTTATGCTACA	0.348000														29			24		0	0	1	0	0
KIAA1755	85449	broad.mit.edu	37	20	36846682	36846682	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:36846682G>T	uc002xhy.1	-	11	2915	c.2643C>A	c.(2641-2643)gcC>gcA	p.A881A	KIAA1755_uc002xhv.1_5'Flank|KIAA1755_uc002xhw.1_5'Flank|KIAA1755_uc002xhx.1_Silent_p.A159A	NM_001029864	NP_001025035	Q5JYT7	K1755_HUMAN	Homo sapiens KIAA1755 (KIAA1755), mRNA.	881										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				ATTCTGCGTGGGCTTTCTCCA	0.582000														37			7		0.248553	0.249802	1	1	0
NCAPG2	54892	broad.mit.edu	37	7	158455046	158455046	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:158455046G>A	uc011kwe.1	-	15	1974	c.1829C>T	c.(1828-1830)aCa>aTa	p.T610I	NCAPG2_uc010lqu.1_Missense_Mutation_p.T402I|NCAPG2_uc003wnx.1_Missense_Mutation_p.T610I|NCAPG2_uc003wnv.1_Missense_Mutation_p.T610I|NCAPG2_uc003wnw.1_Non-coding_Transcript|NCAPG2_uc011kwc.1_Missense_Mutation_p.T111I|NCAPG2_uc011kwd.1_Intron	NM_017760	NP_060230	Q86XI2	CNDG2_HUMAN	Homo sapiens non-SMC condensin II complex, subunit G2 (NCAPG2), mRNA.	610					cell division|chromosome condensation|mitosis	nucleus	methylated histone residue binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		TACTGACAGTGTTTTGTCCAG	0.343000														89			9		0	0	1	0	0
MYO10	4651	broad.mit.edu	37	5	16689991	16689991	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:16689991C>T	uc003jft.4	-	27	4306	c.3838G>A	c.(3838-3840)Gac>Aac	p.D1280N	MYO10_uc011cnc.2_Missense_Mutation_p.D159N|MYO10_uc011cnd.2_Missense_Mutation_p.D637N|MYO10_uc011cne.2_Missense_Mutation_p.D637N|MYO10_uc010itx.3_Missense_Mutation_p.D903N	NM_012334	NP_036466	Q9HD67	MYO10_HUMAN	Homo sapiens myosin X (MYO10), mRNA.	1280	PH 1.				axon guidance|signal transduction	myosin complex	ATP binding|actin binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						ATAATGATGTCGATCCCATTC	0.463000														32			26		0	0	1	0	0
BTN3A3	10384	broad.mit.edu	37	6	26451903	26451903	+	Splice_Site	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:26451903C>T	uc003nhz.3	+	11	1262	c.1019_splice	c.e11-1	p.A340_splice	BTN3A3_uc011dkn.2_Splice_Site_p.A291_splice|BTN3A3_uc021ynh.1_Splice_Site_p.A130_splice	NM_006994	NP_008925	O00478	BT3A3_HUMAN	Homo sapiens butyrophilin, subfamily 3, member A3 (BTN3A3), transcript variant 1, mRNA.	340	B30.2/SPRY.					integral to membrane				cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						CTCTCTGCAGCGGATGTGATT	0.562000														13			10		0	0	1	0	0
CLLU1	574028	broad.mit.edu	37	12	92818761	92818761	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:92818761T>G	uc001tcf.2	+	0	1027	c.305T>G	c.(304-306)aTt>aGt	p.I102S	CLLU1OS_uc001tcb.1_Intron|CLLU1_uc001tcc.2_Intron|CLLU1_uc001tcd.2_Intron|CLLU1_uc001tce.1_Intron	NM_001025233	NP_001020404			Homo sapiens chronic lymphocytic leukemia up-regulated 1 (CLLU1), mRNA.											NS(1)|breast(1)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1)	7						AAAAAACATATTATTTATTCT	0.313000														40			5		0	0	1	0	0
SLC25A14	9016	broad.mit.edu	37	X	129499620	129499620	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:129499620C>A	uc004evr.1	+	8	1081	c.909C>A	c.(907-909)ctC>ctA	p.L303L	SLC25A14_uc010nrg.3_3'UTR|SLC25A14_uc011mut.2_3'UTR|SLC25A14_uc011muu.2_3'UTR|SLC25A14_uc004evp.1_Silent_p.L275L|SLC25A14_uc004evq.1_Silent_p.L272L	NM_022810	NP_073721	O95258	UCP5_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier, brain), member 14 (SLC25A14), nuclear gene encoding mitochondrial protein, transcript variant short, mRNA.	275					aerobic respiration|mitochondrial transport	integral to plasma membrane|mitochondrial inner membrane	binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)	22						ATGTGGATCTCTATAAGGGCA	0.453000														139			76		5.78891e-16	7.31636e-16	1	1	0
MAPKAP1	79109	broad.mit.edu	37	9	128305420	128305420	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:128305420A>G	uc004bpv.3	-	6	1209	c.876T>C	c.(874-876)atT>atC	p.I292I	MAPKAP1_uc011lzt.2_Silent_p.I95I|MAPKAP1_uc010mwz.3_Non-coding_Transcript|MAPKAP1_uc011lzu.2_Silent_p.I100I|MAPKAP1_uc011lzv.2_Silent_p.I36I|MAPKAP1_uc004bpw.3_Silent_p.I100I|MAPKAP1_uc004bpx.3_Silent_p.I100I|MAPKAP1_uc004bpy.3_Silent_p.I292I|MAPKAP1_uc004bpz.3_Silent_p.I292I|MAPKAP1_uc010mxa.3_Non-coding_Transcript|MAPKAP1_uc010mxb.1_Silent_p.I95I|MAPKAP1_uc004bqa.3_Silent_p.I292I	NM_001006617	NP_001006622	Q9BPZ7	SIN1_HUMAN	Homo sapiens mitogen-activated protein kinase associated protein 1 (MAPKAP1), transcript variant 1, mRNA.	292					T cell costimulation|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|response to stress	cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	Ras GTPase binding	p.L291I(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(3)	23						TGTCCACCTGAATAAGGGAGA	0.393000														92			16		0	0	1	0	0
FBXO44	93611	broad.mit.edu	37	1	11715984	11715984	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:11715984G>A	uc010oar.2	+	1	218	c.92G>A	c.(91-93)cGc>cAc	p.R31H	FBXO2_uc001asj.3_5'Flank|FBXO2_uc009vna.3_5'Flank|FBXO2_uc009vnb.1_5'Flank|FBXO44_uc001ask.3_Missense_Mutation_p.R31H|FBXO44_uc010oaq.1_Missense_Mutation_p.R31H|FBXO44_uc010oas.2_Intron|FBXO44_uc001asm.3_Missense_Mutation_p.R31H|FBXO44_uc001asl.3_Missense_Mutation_p.R31H|FBXO44_uc001asn.3_Missense_Mutation_p.R31H	NM_183413	NP_904320	Q9H4M3	FBX44_HUMAN	Homo sapiens F-box protein 44 (FBXO44), transcript variant 3, mRNA.	31	F-box.				protein catabolic process	SCF ubiquitin ligase complex	protein binding			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	8	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.41e-06)|COAD - Colon adenocarcinoma(227;0.000255)|BRCA - Breast invasive adenocarcinoma(304;0.0003)|Kidney(185;0.000758)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		CTGAACTGCCGCCTGGTCTGC	0.642000														42			8		0	0	1	0	0
LIX1	167410	broad.mit.edu	37	5	96443187	96443187	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:96443187G>A	uc003kmy.4	-	2	504	c.264C>T	c.(262-264)gcC>gcT	p.A88A		NM_153234	NP_694966	Q8N485	LIX1_HUMAN	Homo sapiens Lix1 homolog (chicken) (LIX1), mRNA.	88										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)	10		all_cancers(142;4.28e-07)|all_epithelial(76;1.06e-09)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0318)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.0733)		GCCTGGCCTCGGCTCTACTTA	0.493000														38			29		0	0	1	0	0
PRRC2B	84726	broad.mit.edu	37	9	134371213	134371213	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:134371213C>T	uc004can.4	+	30	6697	c.6642C>T	c.(6640-6642)acC>acT	p.T2214T	PRRC2B_uc004cao.4_3'UTR|PRRC2B_uc004cap.4_Silent_p.T360T|PRRC2B_uc011mch.2_Silent_p.T137T	NM_013318	NP_037450	Q5JSZ5	PRC2B_HUMAN	Homo sapiens proline-rich coiled-coil 2B (PRRC2B), mRNA.	2214							protein binding			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						TGAAGCGAACCGGAGCGATCA	0.617000														31			4		0	0	1	0	0
SALL4	57167	broad.mit.edu	37	20	50406792	50406792	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:50406792G>A	uc002xwh.4	-	1	2331	c.2230C>T	c.(2230-2232)Cag>Tag	p.Q744*	SALL4_uc010gii.3_Intron|SALL4_uc002xwi.4_Intron	NM_020436	NP_065169	Q9UJQ4	SALL4_HUMAN	Homo sapiens sal-like 4 (Drosophila) (SALL4), mRNA.	744					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CCCTGGCGCTGCAGGTTAAAA	0.592000														12			7		0	0	1	0	0
PIP4K2A	5305	broad.mit.edu	37	10	22839649	22839649	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:22839649T>G	uc001irl.4	-	6	979	c.731A>C	c.(730-732)aAg>aCg	p.K244T	PIP4K2A_uc010qcu.2_Missense_Mutation_p.K104T	NM_005028	NP_005019	P48426	PI42A_HUMAN	Homo sapiens phosphatidylinositol-5-phosphate 4-kinase, type II, alpha (PIP4K2A), mRNA.	244	PIPK.						1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding			endometrium(4)|kidney(13)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	29						AATATAAATCTTTTGGCCCTC	0.363000											OREG0020068	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		126			17		0	0	1	0	0
GPC5	2262	broad.mit.edu	37	13	92345665	92345665	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:92345665A>G	uc010tif.2	+	2	916	c.550A>G	c.(550-552)Act>Gct	p.T184A		NM_004466	NP_004457	P78333	GPC5_HUMAN	Homo sapiens glypican 5 (GPC5), mRNA.	184						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				CCCTGGTGTGACTGACAGTTC	0.443000														65			34		0	0	1	0	0
ARV1	64801	broad.mit.edu	37	1	231125862	231125862	+	Nonsense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:231125862G>T	uc009xfl.1	+	2	330	c.301G>T	c.(301-303)Gga>Tga	p.G101*	ARV1_uc001huh.3_Nonsense_Mutation_p.G101*	NM_022786	NP_073623	Q9H2C2	ARV1_HUMAN	Homo sapiens ARV1 homolog (S. cerevisiae) (ARV1), mRNA.	101			G -> E (in dbSNP:rs35764859).		sphingolipid metabolic process	integral to membrane				breast(3)|large_intestine(2)|lung(2)	7	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)		COAD - Colon adenocarcinoma(196;0.211)|Colorectal(1306;0.233)		TCAGATCCATGGAAAACTCTG	0.428000														129			7		3.09899e-07	3.55757e-07	1	1	0
WTAP	9589	broad.mit.edu	37	6	160176228	160176228	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:160176228C>A	uc003qsl.3	+	7	998	c.776C>A	c.(775-777)cCt>cAt	p.P259H	WTAP_uc003qso.3_Missense_Mutation_p.P140H	NM_004906	NP_004897	Q15007	FL2D_HUMAN	Homo sapiens Wilms tumor 1 associated protein (WTAP), transcript variant 1, mRNA.	259					RNA splicing|cell cycle|mRNA processing	nuclear membrane|nucleolus				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	18		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06)		GCTTCTGAACCTGTAGAACAG	0.557000														10			15		0.000219431	0.000236831	1	1	0
HRNR	388697	broad.mit.edu	37	1	152191231	152191231	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:152191231T>C	uc001ezt.1	-	2	2950	c.2874A>G	c.(2872-2874)gaA>gaG	p.E958E		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	958					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGCCGTGTTGTTCGTAGCTGG	0.552000														206			18		0	0	1	0	0
RGS7	6000	broad.mit.edu	37	1	241262035	241262035	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:241262035C>A	uc001hyv.2	-	2	436	c.106G>T	c.(106-108)Gat>Tat	p.D36Y	RGS7_uc010pyh.2_Missense_Mutation_p.D10Y|RGS7_uc010pyj.1_5'UTR|RGS7_uc001hyu.2_Missense_Mutation_p.D36Y|RGS7_uc009xgn.1_Missense_Mutation_p.D36Y|RGS7_uc001hyw.2_Missense_Mutation_p.D36Y	NM_002924	NP_002915	P49802	RGS7_HUMAN	Homo sapiens regulator of G-protein signaling 7 (RGS7), mRNA.	36					G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity	p.Q35R(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			TTTTTTTCATCTTGCATCCGT	0.343000														57			11		0.00136819	0.00144449	1	1	0
NLRP7	199713	broad.mit.edu	37	19	55445085	55445085	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:55445085C>T	uc002qih.4	-	7	2570	c.2494G>A	c.(2494-2496)Gaa>Aaa	p.E832K	NLRP7_uc010esk.3_Missense_Mutation_p.E832K|NLRP7_uc002qig.4_Missense_Mutation_p.E804K|NLRP7_uc002qii.4_Missense_Mutation_p.E832K|NLRP7_uc010esl.3_Missense_Mutation_p.E860K	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN	Homo sapiens NLR family, pyrin domain containing 7 (NLRP7), transcript variant 2, mRNA.	832							ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		CAACTGGCTTCTGTAAGACGA	0.473000														43			22		0	0	1	0	0
LRRC31	79782	broad.mit.edu	37	3	169574164	169574164	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:169574164T>C	uc003fgc.1	-	4	848	c.783A>G	c.(781-783)ttA>ttG	p.L261L	LRRC31_uc010hwp.1_Silent_p.L205L	NM_024727	NP_079003	Q6UY01	LRC31_HUMAN	Homo sapiens leucine rich repeat containing 31 (LRRC31), mRNA.	261										cervix(3)|endometrium(3)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	31	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)			CACATGAATGTAACTTCAGTA	0.323000														80			10		0	0	1	0	0
METTL21A	151194	broad.mit.edu	37	2	208477941	208477941	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:208477941G>T	uc002vcf.2	-	3	646	c.486C>A	c.(484-486)ctC>ctA	p.L162L	METTL21A_uc002vce.3_Intron|METTL21A_uc010fuk.1_Silent_p.L162L|METTL21A_uc002vcg.3_Silent_p.L162L	NM_145280	NP_660323	Q8WXB1	MT21A_HUMAN	Homo sapiens methyltransferase like 21A (METTL21A), transcript variant 1, mRNA.	162						integral to membrane	methyltransferase activity			endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|stomach(1)	10						GATTGCTACAGAGATGTTCCA	0.403000														114			9		3.86212e-05	4.23294e-05	1	1	0
SLC20A2	6575	broad.mit.edu	37	8	42320605	42320605	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:42320605G>A	uc003xpe.3	-	3	803	c.434C>T	c.(433-435)gCt>gTt	p.A145V	SLC20A2_uc010lxl.3_Missense_Mutation_p.A145V|SLC20A2_uc010lxm.3_Missense_Mutation_p.A145V	NM_006749	NP_006740	Q08357	S20A2_HUMAN	Homo sapiens solute carrier family 20 (phosphate transporter), member 2 (SLC20A2), mRNA.	145					interspecies interaction between organisms	integral to plasma membrane|membrane fraction	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity			breast(1)|endometrium(6)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|stomach(1)	26	all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;5.73e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00419)|Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869)			AAACCAAGAAGCAACTGAATA	0.308000														18			10		0	0	1	0	0
PAPPA	5069	broad.mit.edu	37	9	119065179	119065179	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:119065179G>A	uc004bjn.3	+	9	3478	c.3097G>A	c.(3097-3099)Gac>Aac	p.D1033N	PAPPA_uc011lxp.1_Missense_Mutation_p.D728N|PAPPA_uc011lxq.2_Missense_Mutation_p.D408N	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA.	1033					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						ATCTCATCAAGACCAGCAATG	0.507000														37			24		0	0	1	0	0
MTMR14	64419	broad.mit.edu	37	3	9719032	9719032	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:9719032G>T	uc003brz.3	+	7	934	c.783G>T	c.(781-783)cgG>cgT	p.R261R	MTMR14_uc003bsa.3_Silent_p.R261R|MTMR14_uc003bsb.3_Silent_p.R261R|MTMR14_uc011ath.2_Intron|MTMR14_uc010hcl.3_Intron|MTMR14_uc003bsc.3_Non-coding_Transcript	NM_001077525	NP_001070993	Q8NCE2	MTMRE_HUMAN	Homo sapiens myotubularin related protein 14 (MTMR14), transcript variant 2, mRNA.	261						perinuclear region of cytoplasm|ruffle	phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(2)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	21	Medulloblastoma(99;0.227)					ATAAAGATCGGGATTACATGG	0.443000														67			37		4.92203e-23	6.40486e-23	1	1	0
SNX6	58533	broad.mit.edu	37	14	35078876	35078876	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:35078876G>A	uc001wsf.1	-	2	171	c.163C>T	c.(163-165)Cgg>Tgg	p.R55W	SNX6_uc001wse.1_5'UTR|SNX6_uc010tpm.1_5'UTR|SNX6_uc010amm.1_5'UTR	NM_152233	NP_067072	Q9UNH7	SNX6_HUMAN	Homo sapiens sorting nexin 6 (SNX6), transcript variant 2, mRNA.	43	PX.				cell communication|intracellular protein transport|negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent|negative regulation of transforming growth factor beta receptor signaling pathway|retrograde transport, endosome to Golgi	cytoplasmic vesicle membrane|early endosome membrane|nucleus	phosphatidylinositol binding|protein homodimerization activity			endometrium(4)|lung(1)|ovary(1)	6	Breast(36;0.0473)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00199)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.0245)		ACTTTATCCCGCTCACTAAGA	0.333000														47			31		0	0	1	0	0
ATP8B1	5205	broad.mit.edu	37	18	55351303	55351303	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:55351303G>A	uc002lgw.3	-	14	1715	c.1595C>T	c.(1594-1596)gCa>gTa	p.A532V	LOC100505549_uc002lgv.1_Intron	NM_005603	NP_005594	O43520	AT8B1_HUMAN	Homo sapiens ATPase, aminophospholipid transporter, class I, type 8B, member 1 (ATP8B1), mRNA.	532					ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				GTGGCAAACTGCGAGCAAGAA	0.453000														28			30		0	0	1	0	0
EIF2AK4	440275	broad.mit.edu	37	15	40265883	40265883	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:40265883C>T	uc001zkm.1	+	10	1801	c.1751C>T	c.(1750-1752)tCc>tTc	p.S584F	EIF2AK4_uc001zkl.3_Missense_Mutation_p.S584F|EIF2AK4_uc010bbj.1_Missense_Mutation_p.S313F	NM_001013703	NP_001013725	Q9P2K8	E2AK4_HUMAN	Homo sapiens eukaryotic translation initiation factor 2 alpha kinase 4 (EIF2AK4), mRNA.	584					translation	cytosolic ribosome	ATP binding|aminoacyl-tRNA ligase activity|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		AGACAGTTTTCCCGATACTTC	0.428000														81			58		0	0	1	0	0
MYEF2	50804	broad.mit.edu	37	15	48443753	48443753	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:48443753G>A	uc001zwi.4	-	12	1347	c.1223C>T	c.(1222-1224)gCg>gTg	p.A408V	MYEF2_uc001zwg.4_5'Flank|MYEF2_uc001zwh.4_Missense_Mutation_p.A20V|MYEF2_uc001zwj.4_Missense_Mutation_p.A408V	NM_016132	NP_057216	Q9P2K5	MYEF2_HUMAN	Homo sapiens myelin expression factor 2 (MYEF2), mRNA.	408	Gly-rich.				transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding|RNA binding|nucleotide binding			endometrium(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		all_lung(180;0.00217)		all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07)		ACTAGTCATCGCACCACGGTA	0.373000														155			93		0	0	1	0	0
SUSD1	64420	broad.mit.edu	37	9	114886614	114886614	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:114886614A>C	uc010mui.3	-	5	850	c.809T>G	c.(808-810)tTt>tGt	p.F270C	MIR3134_uc022bma.1_Intron|SUSD1_uc004bfu.3_Missense_Mutation_p.F270C|SUSD1_uc010muj.3_Missense_Mutation_p.F270C			Q6UWL2	SUSD1_HUMAN	Homo sapiens sushi domain containing 1 (SUSD1), mRNA.	270	Sushi 2.					integral to membrane	calcium ion binding		SUSD1/ROD1(2)	central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						AGGGCTCTCAAAGCCCTCTTG	0.522000														63			37		0	0	1	0	0
CCDC147	159686	broad.mit.edu	37	10	106118367	106118367	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:106118367C>T	uc001kyh.3	+	1	412	c.278C>T	c.(277-279)gCa>gTa	p.A93V		NM_001008723	NP_001008723	Q5T655	CC147_HUMAN	Homo sapiens coiled-coil domain containing 147 (CCDC147), mRNA.	93										NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		ACCACCATTGCATCCCTAAAG	0.428000														36			22		0	0	1	0	0
MGMT	4255	broad.mit.edu	37	10	131506229	131506229	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:131506229C>T	uc001lkh.2	+	2	315	c.289C>T	c.(289-291)Ctg>Ttg	p.L97L		NM_002412	NP_002403	B4DEE8	B4DEE8_HUMAN	Homo sapiens O-6-methylguanine-DNA methyltransferase (MGMT), mRNA.	97										breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	10		all_cancers(35;9.44e-09)|all_epithelial(44;6.98e-08)|Lung NSC(174;0.0157)|all_lung(145;0.0201)|all_neural(114;0.0732)|Colorectal(57;0.0792)|Breast(234;0.167)		OV - Ovarian serous cystadenocarcinoma(35;0.00291)		CACAGCCTGGCTGAATGCCTA	0.597000								Direct reversal of damage						44			35		0	0	1	0	0
ZBTB3	79842	broad.mit.edu	37	11	62519916	62519916	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:62519916G>A	uc001nuz.3	-	1	1493	c.1371C>T	c.(1369-1371)taC>taT	p.Y457Y		NM_024784	NP_079060	Q9H5J0	ZBTB3_HUMAN	Homo sapiens zinc finger and BTB domain containing 3 (ZBTB3), mRNA.	457					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|ovary(2)|prostate(2)	24						GAGCTGCTTCGTACTCAGAAG	0.542000														42			18		0	0	1	0	0
FTSJ3	117246	broad.mit.edu	37	17	61902614	61902614	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:61902614C>T	uc002jbz.3	-	5	661	c.583G>A	c.(583-585)Gta>Ata	p.V195I	FTSJ3_uc002jca.3_Missense_Mutation_p.V195I|PSMC5_uc002jcb.3_5'Flank|PSMC5_uc010ddy.3_5'Flank|PSMC5_uc002jcd.3_5'Flank	NM_017647	NP_060117	Q8IY81	RRMJ3_HUMAN	Homo sapiens FtsJ homolog 3 (E. coli) (FTSJ3), mRNA.	195					RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						TGGCAGACTACAAAGATCTCT	0.498000														31			21		0	0	1	0	0
SLC6A9	6536	broad.mit.edu	37	1	44476507	44476507	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:44476507T>C	uc001cll.3	-	2	489	c.297A>G	c.(295-297)aaA>aaG	p.K99K	SLC6A9_uc009vxe.2_5'UTR|SLC6A9_uc010okm.1_Silent_p.K26K|SLC6A9_uc001clm.3_Silent_p.K45K|SLC6A9_uc009vxd.3_Non-coding_Transcript|SLC6A9_uc010okn.2_Silent_p.K45K|SLC6A9_uc010oko.2_Intron|SLC6A9_uc001cln.3_Silent_p.K26K|SLC6A9_uc010okp.1_Intron	NM_201649	NP_964012	P48067	SC6A9_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, glycine), member 9 (SLC6A9), transcript variant 2, mRNA.	99						integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	AGTTGCCCCGTTTGAGGTTCT	0.587000														37			19		0	0	1	0	0
GBA2	57704	broad.mit.edu	37	9	35738597	35738597	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:35738597C>A	uc011lpd.2	-	13	2497	c.1998G>T	c.(1996-1998)aaG>aaT	p.K666N	GBA2_uc003zxw.3_Missense_Mutation_p.K660N|GBA2_uc003zxx.1_5'UTR|GBA2_uc011lpb.1_Missense_Mutation_p.K660N|GBA2_uc011lpc.1_Missense_Mutation_p.K660N	NM_020944	NP_065995	Q9HCG7	GBA2_HUMAN	Homo sapiens glucosidase, beta (bile acid) 2 (GBA2), mRNA.	660					O-glycoside catabolic process|bile acid metabolic process|glucosylceramide catabolic process	integral to membrane|microsome|plasma membrane|smooth endoplasmic reticulum	beta-glucosidase activity|glucosylceramidase activity			NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CATCATGGTCCTTGTCAAACT	0.517000														66			9		0.38729	0.388488	1	1	0
LMO7	4008	broad.mit.edu	37	13	76395515	76395515	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:76395515C>T	uc021rkq.1	+	13	2745	c.2410C>T	c.(2410-2412)Cgt>Tgt	p.R804C	LMO7_uc010thv.2_Missense_Mutation_p.R522C|LMO7_uc001vjt.1_Missense_Mutation_p.R470C|LMO7_uc001vjv.3_Missense_Mutation_p.R571C|LMO7_uc010thw.2_Missense_Mutation_p.R421C|LMO7_uc001vjw.1_Missense_Mutation_p.R477C	NM_005358	NP_005349	Q8WWI1	LMO7_HUMAN	Homo sapiens LIM domain 7 (LMO7), transcript variant 1, mRNA.	856						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding	p.A803E(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		AAGAGAGGACCGTGTAACAAC	0.438000														61			17		0	0	1	0	0
MOGAT3	346606	broad.mit.edu	37	7	100839654	100839654	+	Missense_Mutation	SNP	C	T	T	rs151326500		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100839654C>T	uc003uyc.3	-	5	852	c.685G>A	c.(685-687)Gtg>Atg	p.V229M	MOGAT3_uc010lhr.3_Intron	NM_178176	NP_835470	Q86VF5	MOGT3_HUMAN	Homo sapiens monoacylglycerol O-acyltransferase 3 (MOGAT3), mRNA.	229					glycerol metabolic process|lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity|diacylglycerol O-acyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(3)	22	Lung NSC(181;0.168)|all_lung(186;0.215)					AAGGAGTACACGGGCACCAGG	0.587000														11			17		0	0	1	0	0
ZNF799	90576	broad.mit.edu	37	19	12501583	12501583	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:12501583C>T	uc010dyt.3	-	3	1833	c.1629G>A	c.(1627-1629)tgG>tgA	p.W543*	ZNF799_uc002mts.4_Intron	NM_001080821	NP_001074290	Q96GE5	ZN799_HUMAN	Homo sapiens zinc finger protein 799 (ZNF799), mRNA.	543					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						AGCAAGTGAGCCAAGAGAATG	0.398000														39			26		0	0	1	0	0
COQ6	51004	broad.mit.edu	37	14	74428545	74428545	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:74428545C>T	uc001xph.3	+	10	1397	c.1316C>T	c.(1315-1317)tCc>tTc	p.S439F	ENTPD5_uc001xpi.3_Intron|COQ6_uc001xpe.3_Missense_Mutation_p.S364F|COQ6_uc010tuk.2_Missense_Mutation_p.S414F|COQ6_uc021rwk.1_Missense_Mutation_p.S364F	NM_182476	NP_872282	Q9Y2Z9	COQ6_HUMAN	Homo sapiens coenzyme Q6 homolog, monooxygenase (S. cerevisiae) (COQ6), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	439					ubiquinone biosynthetic process	mitochondrion	flavin adenine dinucleotide binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(234;0.00337)		ACCAGTGCCTCCCCGCTTGTG	0.502000														177			12		0	0	1	0	0
SIK1	150094	broad.mit.edu	37	21	44839825	44839825	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:44839825G>A	uc002zdf.2	-	8	1160	c.1033C>T	c.(1033-1035)Ctc>Ttc	p.L345F		NM_173354	NP_775490	P57059	SIK1_HUMAN	Homo sapiens salt-inducible kinase 1 (SIK1), mRNA.	345					anoikis|cell cycle|cell differentiation|intracellular protein kinase cascade|multicellular organismal development|regulation of cell differentiation|regulation of mitotic cell cycle	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|testis(2)|urinary_tract(1)	21						TACTCCTTGAGCCGCTCAAGG	0.612000														4			4		0	0	1	0	0
ARHGEF17	9828	broad.mit.edu	37	11	73020858	73020858	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:73020858G>A	uc001otu.3	+	0	1196	c.1175G>A	c.(1174-1176)cGt>cAt	p.R392H	ARHGEF17_uc021qnc.1_Missense_Mutation_p.R392H	NM_014786	NP_055601	Q96PE2	ARHGH_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 17 (ARHGEF17), mRNA.	392					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						GGTAGCAGCCGTTATTCCAGC	0.627000														52			6		0	0	1	0	0
ZBTB33	10009	broad.mit.edu	37	X	119387918	119387918	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:119387918G>T	uc022cdm.1	+	0	648	c.648G>T	c.(646-648)caG>caT	p.Q216H	ZBTB33_uc010nqm.1_Missense_Mutation_p.Q216H|ZBTB33_uc004esn.1_Missense_Mutation_p.Q216H	NM_006777	NP_006768	Q86T24	KAISO_HUMAN	Homo sapiens zinc finger and BTB domain containing 33 (ZBTB33), transcript variant 2, mRNA.	216					Wnt receptor signaling pathway|intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	26						CAGTGGCACAGGTCCAATCTA	0.438000														53			27		2.49675e-24	3.25954e-24	1	1	0
CADPS2	93664	broad.mit.edu	37	7	122526096	122526096	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:122526096A>G	uc022akp.1	-	0	718	c.296T>C	c.(295-297)tTc>tCc	p.F99S	CADPS2_uc022akq.1_Missense_Mutation_p.F99S|CADPS2_uc010lkq.3_Missense_Mutation_p.F99S|CADPS2_uc022akr.1_Missense_Mutation_p.F99S	NM_001167940	NP_001161412	Q86UW7	CAPS2_HUMAN	Homo sapiens Ca++-dependent secretion activator 2 (CADPS2), transcript variant 3, mRNA.	99					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						CTTGGCGTTGAAGGGGTACGC	0.662000														21			6		0	0	1	0	0
WHSC1L1	54904	broad.mit.edu	37	8	38162272	38162272	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:38162272C>T	uc003xli.3	-	13	2962	c.2444G>A	c.(2443-2445)cGc>cAc	p.R815H	WHSC1L1_uc011lbm.2_Missense_Mutation_p.R815H|WHSC1L1_uc010lwe.3_Missense_Mutation_p.R815H	NM_023034	NP_075447	Q9BZ95	NSD3_HUMAN	Homo sapiens Wolf-Hirschhorn syndrome candidate 1-like 1 (WHSC1L1), transcript variant long, mRNA.	815					cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			TCTCATCATGCGGCCTGTTTA	0.438000			T	NUP98	AML									38			19		0	0	1	0	0
C7orf63	79846	broad.mit.edu	37	7	89909125	89909125	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:89909125G>T	uc010lep.3	+	11	1541	c.1290G>T	c.(1288-1290)gtG>gtT	p.V430V	C7orf63_uc003ukf.2_Non-coding_Transcript|C7orf63_uc003ukg.2_Silent_p.V105V|C7orf63_uc011khj.2_Silent_p.V412V|C7orf63_uc011khk.2_5'UTR	NM_001039706	NP_001034795	A5D8W1	CG063_HUMAN	Homo sapiens chromosome 7 open reading frame 63 (C7orf63), transcript variant 1, mRNA.	430							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						TGTCATCAGTGGCTCCTTTAT	0.418000											OREG0003793	type=REGULATORY REGION|Gene=AK024715|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		140			10		0.000442599	0.000473562	1	1	0
CEP97	79598	broad.mit.edu	37	3	101445527	101445527	+	Missense_Mutation	SNP	A	G	G	rs145823858		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:101445527A>G	uc003dvk.1	+	1	160	c.133A>G	c.(133-135)Aaa>Gaa	p.K45E	CEP97_uc010hpm.1_Missense_Mutation_p.K45E|CEP97_uc011bhf.1_Missense_Mutation_p.K45E|CEP97_uc003dvl.1_5'Flank	NM_024548	NP_078824	Q8IW35	CEP97_HUMAN	Homo sapiens centrosomal protein 97kDa (CEP97), mRNA.	45						centrosome|nucleus	protein binding			cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						GATTCTGGATAAAAATCAGAT	0.343000														54			4		0	0	1	0	0
GPR83	10888	broad.mit.edu	37	11	94126758	94126758	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:94126758C>T	uc001pet.2	-	2	712	c.540G>A	c.(538-540)cgG>cgA	p.R180R		NM_016540	NP_057624	Q9NYM4	GPR83_HUMAN	Homo sapiens G protein-coupled receptor 83 (GPR83), mRNA.	180						integral to membrane|plasma membrane	neuropeptide Y receptor activity			NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TGATTGAGATCCGGGGTTTCA	0.463000														30			18		0	0	1	0	0
FBN2	2201	broad.mit.edu	37	5	127744372	127744372	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:127744372C>T	uc003kuu.3	-	7	1512	c.1073G>A	c.(1072-1074)tGc>tAc	p.C358Y	FBN2_uc003kuv.2_Missense_Mutation_p.C325Y	NM_001999	NP_001990	P35556	FBN2_HUMAN	Homo sapiens fibrillin 2 (FBN2), mRNA.	358	EGF-like 5; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CTTACCGATGCATCGAGAGCC	0.418000														32			24		0	0	1	0	0
PDZD4	57595	broad.mit.edu	37	X	153069756	153069756	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153069756G>A	uc004fja.1	-	7	1630	c.1380C>T	c.(1378-1380)tcC>tcT	p.S460S	PDZD4_uc004fiy.1_Silent_p.S379S|PDZD4_uc004fiz.1_Silent_p.S454S|PDZD4_uc004fix.2_Silent_p.S358S|PDZD4_uc011mze.1_Silent_p.S345S|PDZD4_uc022chy.1_5'Flank	NM_032512	NP_115901	Q76G19	PDZD4_HUMAN	Homo sapiens PDZ domain containing 4 (PDZD4), mRNA.	454						cell cortex				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CGGAGATGTCGGACAGCTCGT	0.657000														48			4		0	0	1	0	0
KIAA0240	23506	broad.mit.edu	37	6	42821421	42821421	+	Missense_Mutation	SNP	C	T	T	rs138499464		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:42821421C>T	uc003osn.1	+	7	2142	c.1991C>T	c.(1990-1992)gCa>gTa	p.A664V	KIAA0240_uc011duw.1_Missense_Mutation_p.A664V|KIAA0240_uc003osp.1_Missense_Mutation_p.A664V	NM_015349	NP_056164	Q6AI39	K0240_HUMAN	Homo sapiens KIAA0240 (KIAA0240), mRNA.	664										NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(3)|skin(3)	44	Colorectal(47;0.196)		Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00524)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.104)			TTAGGAACCGCACAACCACAG	0.423000														38			28		0	0	1	0	0
ENPEP	2028	broad.mit.edu	37	4	111434572	111434572	+	Splice_Site	SNP	G	A	A	rs34949711	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:111434572G>A	uc003iab.4	+	7	1651	c.1309_splice	c.e7-1	p.R437_splice		NM_001977	NP_001968	Q07075	AMPE_HUMAN	Homo sapiens glutamyl aminopeptidase (aminopeptidase A) (ENPEP), mRNA.	437			R -> H (in dbSNP:rs34949711).		cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	TCATTTCAGCGTGACCAAATG	0.308000														68			8		0	0	1	0	0
ERCC6L2	375748	broad.mit.edu	37	9	98775028	98775028	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:98775028C>A	uc010msa.2	+	3	2015	c.1139C>A	c.(1138-1140)aCc>aAc	p.T380N	ERCC6L2_uc011lun.1_Intron			Q5T890	RAD26_HUMAN	RecName: Full=Uncharacterized protein C9orf102;	0					DNA repair	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding										TTAGAAAATACCATGAAAGAC	0.423000														21			16		6.72482e-11	8.1643e-11	1	1	0
PSG3	5671	broad.mit.edu	37	19	43233277	43233277	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:43233277G>A	uc002oue.3	-	4	1373	c.1241C>T	c.(1240-1242)tCt>tTt	p.S414F	PSG3_uc002ouf.3_Non-coding_Transcript|PSG3_uc002oug.1_Missense_Mutation_p.S414F	NM_021016	NP_066296	Q16557	PSG3_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 3 (PSG3), mRNA.	414					defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				CCACTTACCAGAGACTTTGAC	0.468000														108			58		0	0	1	0	0
FAM193B	54540	broad.mit.edu	37	5	176965998	176965998	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:176965998G>A	uc003mhu.3	-	1	450	c.361C>T	c.(361-363)Ctc>Ttc	p.L121F	FAM193B_uc003mht.3_5'Flank|FAM193B_uc003mhv.3_5'UTR|FAM193B_uc003mhw.3_Non-coding_Transcript	NM_001190946	NP_001177875	Q6IPW0	Q6IPW0_HUMAN	Homo sapiens family with sequence similarity 193, member B (FAM193B), transcript variant 3, mRNA.	0										kidney(1)|large_intestine(3)	4						TCGCCTAGGAGATTCTTGACG	0.552000														42			20		0	0	1	0	0
EPB41L3	23136	broad.mit.edu	37	18	5397138	5397138	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:5397138G>A	uc002kmt.1	-	17	2846	c.2760C>T	c.(2758-2760)gcC>gcT	p.A920A	EPB41L3_uc010wzh.1_Silent_p.A751A|EPB41L3_uc002kmu.1_Silent_p.A698A|EPB41L3_uc010dkq.1_Silent_p.A589A|EPB41L3_uc002kms.1_Silent_p.A155A|EPB41L3_uc010wze.1_Silent_p.A225A|EPB41L3_uc010wzf.1_Silent_p.A217A|EPB41L3_uc010wzg.1_Silent_p.A192A|EPB41L3_uc010dkr.2_Silent_p.A312A	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1-like 3 (EPB41L3), mRNA.	920	Carboxyl-terminal (CTD).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	p.A920V(1)|p.T919A(1)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						GGGAAGCAGCGGCTGTCTCTT	0.507000														64			6		0	0	1	0	0
ZNF266	10781	broad.mit.edu	37	19	9525241	9525241	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9525241C>A	uc010dwq.3	-	8	1568	c.360G>T	c.(358-360)aaG>aaT	p.K120N	ZNF266_uc002mll.3_Missense_Mutation_p.K120N|ZNF266_uc002mlm.3_Missense_Mutation_p.K120N|ZNF266_uc002mln.3_Missense_Mutation_p.K120N|ZNF266_uc002mlo.3_Missense_Mutation_p.K120N	NM_198058	NP_932175	Q14584	ZN266_HUMAN	Homo sapiens zinc finger protein 266 (ZNF266), mRNA.	120					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(2)|large_intestine(11)|lung(8)|ovary(1)|skin(2)|stomach(1)	28						TAGAGGTTTTCTTGTGCAGAG	0.438000														115			15		2.32078e-09	2.76369e-09	1	1	0
UNC5D	137970	broad.mit.edu	37	8	35541169	35541169	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:35541169C>T	uc003xjr.2	+	4	1003	c.675C>T	c.(673-675)gaC>gaT	p.D225D	UNC5D_uc003xjs.2_Silent_p.D220D|UNC5D_uc003xjt.1_5'UTR	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN	Homo sapiens unc-5 homolog D (C. elegans) (UNC5D), mRNA.	225	Ig-like C2-type.				apoptosis|axon guidance	integral to membrane	receptor activity	p.T225T(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		GGCTCTCGGACTCAGGAAATT	0.517000														27			14		0	0	1	0	0
SEMA6D	80031	broad.mit.edu	37	15	48063276	48063276	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:48063276C>T	uc010bek.3	+	18	2876	c.2516C>T	c.(2515-2517)aCg>aTg	p.T839M	SEMA6D_uc001zvw.3_Missense_Mutation_p.T777M|SEMA6D_uc001zvy.3_Missense_Mutation_p.T839M|SEMA6D_uc001zvz.3_Missense_Mutation_p.T783M|SEMA6D_uc001zwa.3_3'UTR|SEMA6D_uc001zwb.3_Missense_Mutation_p.T777M|SEMA6D_uc001zwc.3_Missense_Mutation_p.T764M	NM_153618	NP_705871	Q8NFY4	SEM6D_HUMAN	Homo sapiens sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D (SEMA6D), transcript variant 4, mRNA.	839					axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity	p.N838S(1)		biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		GACTACAACACGTCTTTCTCA	0.458000														69			7		0	0	1	0	0
LTBP2	4053	broad.mit.edu	37	14	75078499	75078499	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:75078499G>A	uc001xqa.3	-	0	536	c.149C>T	c.(148-150)gCg>gTg	p.A50V		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 2 (LTBP2), mRNA.	50					protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		CAGTCGATTCGCGTCTCCACC	0.692000														8			4		0	0	1	0	0
LARP6	55323	broad.mit.edu	37	15	71125303	71125303	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:71125303G>T	uc002ass.3	-	2	635	c.564C>A	c.(562-564)gtC>gtA	p.V188V		NM_018357	NP_060827	Q9BRS8	LARP6_HUMAN	Homo sapiens La ribonucleoprotein domain family, member 6 (LARP6), transcript variant 1, mRNA.	188					RNA processing	Golgi apparatus|nucleus|ribonucleoprotein complex	RNA binding|nucleotide binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	19						AGAGATCATAGACCAGGAGCA	0.557000														44			8		1.12685e-05	1.25391e-05	1	1	0
GOLPH3	64083	broad.mit.edu	37	5	32126330	32126330	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:32126330C>T	uc003jhp.1	-	3	1170	c.885G>A	c.(883-885)gcG>gcA	p.A295A		NM_022130	NP_071413	Q9H4A6	GOLP3_HUMAN	Homo sapiens golgi phosphoprotein 3 (coat-protein) (GOLPH3), mRNA.	295					cell proliferation|positive regulation of TOR signaling cascade|regulation of mitochondrion organization	Golgi cisterna membrane|cytosol|endosome|mitochondrial intermembrane space|plasma membrane|trans-Golgi network	protein binding	p.A295A(2)		kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11						ACTTGGTGAACGCCGCCACCA	0.478000														67			52		0	0	1	0	0
IL18RAP	8807	broad.mit.edu	37	2	103068357	103068357	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:103068357A>G	uc002tbx.3	+	11	2000	c.1516A>G	c.(1516-1518)Aca>Gca	p.T506A	IL18RAP_uc010fiz.3_Missense_Mutation_p.T364A	NM_003853	NP_003844	O95256	I18RA_HUMAN	Homo sapiens interleukin 18 receptor accessory protein (IL18RAP), mRNA.	506	TIR.				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						GGATGATCAAACACTGAAACT	0.413000														53			43		0	0	1	0	0
GREB1	9687	broad.mit.edu	37	2	11716623	11716623	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:11716623C>A	uc002rbk.1	+	4	899	c.599C>A	c.(598-600)aCt>aAt	p.T200N	GREB1_uc002rbl.3_Missense_Mutation_p.T200N|GREB1_uc002rbm.3_Missense_Mutation_p.T90N|GREB1_uc002rbn.1_Missense_Mutation_p.T200N	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN	Homo sapiens growth regulation by estrogen in breast cancer 1 (GREB1), transcript variant a, mRNA.	200						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		GCACAAGGGACTCTAACCAAA	0.498000														78			26		9.39395e-14	1.17142e-13	1	1	0
SAMD9L	219285	broad.mit.edu	37	7	92763849	92763849	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:92763849T>C	uc003umh.1	-	4	2652	c.1436A>G	c.(1435-1437)aAc>aGc	p.N479S	SAMD9L_uc003umj.1_Missense_Mutation_p.N479S|SAMD9L_uc003umi.1_Missense_Mutation_p.N479S|SAMD9L_uc010lfb.1_Missense_Mutation_p.N479S|SAMD9L_uc003umk.1_Missense_Mutation_p.N479S|SAMD9L_uc010lfc.1_Missense_Mutation_p.N479S|SAMD9L_uc010lfd.1_Missense_Mutation_p.N479S|SAMD9L_uc022ahh.1_Missense_Mutation_p.N479S	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA.	479										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			CTCCCACATGTTAGTTGTCTT	0.403000														137			41		0	0	1	0	0
OSBPL6	114880	broad.mit.edu	37	2	179247887	179247887	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179247887C>A	uc002uly.3	+	17	2377	c.1833C>A	c.(1831-1833)gtC>gtA	p.V611V	MIR548N_uc021vsx.1_Intron|OSBPL6_uc002ulx.3_Silent_p.V586V|OSBPL6_uc010zfe.2_Silent_p.V555V|OSBPL6_uc002ulz.3_Silent_p.V550V|OSBPL6_uc002uma.3_Silent_p.V590V	NM_001201480	NP_001188409	Q9BZF3	OSBL6_HUMAN	Homo sapiens oxysterol binding protein-like 6 (OSBPL6), transcript variant 3, mRNA.	586					lipid transport		lipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			TGTCTAAAGTCTCTATGCCTG	0.507000														30			4		0.00909568	0.00940365	1	1	0
SPAG17	200162	broad.mit.edu	37	1	118514577	118514577	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:118514577G>T	uc001ehk.2	-	44	6303	c.6235C>A	c.(6235-6237)Ctc>Atc	p.L2079I	SPAG17_uc021osr.1_Missense_Mutation_p.L589I	NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	Homo sapiens sperm associated antigen 17 (SPAG17), mRNA.	2079						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		GATGATGGGAGAAGATGGAAC	0.448000														31			27		2.44723e-14	3.06345e-14	1	1	0
ITK	3702	broad.mit.edu	37	5	156641241	156641241	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:156641241C>A	uc003lwo.1	+	3	447	c.365C>A	c.(364-366)cCt>cAt	p.P122H		NM_005546	NP_005537	Q08881	ITK_HUMAN	Homo sapiens IL2-inducible T-cell kinase (ITK), mRNA.	122					T cell receptor signaling pathway|cellular defense response|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	p.P122A(1)		breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AAATATCATCCTAATTTCTGG	0.448000			T	SYK	peripheral T-cell lymphoma									87			10		2.17888e-05	2.40634e-05	1	1	0
C7orf62	219557	broad.mit.edu	37	7	88424200	88424200	+	Silent	SNP	A	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:88424200A>T	uc003ujv.3	-	1	239	c.57T>A	c.(55-57)ccT>ccA	p.P19P	ZNF804B_uc011khi.2_Intron|C7orf62_uc022ahc.1_Silent_p.P19P	NM_152706	NP_689919	Q8TBZ9	CG062_HUMAN	Homo sapiens chromosome 7 open reading frame 62 (C7orf62), mRNA.	19										NS(1)|breast(1)|endometrium(3)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	30						GAAAAAGAAGAGGTTCCAGTG	0.413000														131			8		0	0	1	0	0
ZNF566	84924	broad.mit.edu	37	19	36940119	36940119	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:36940119G>A	uc010xtf.2	-	4	1155	c.1020C>T	c.(1018-1020)taC>taT	p.Y340Y	ZNF566_uc002oea.4_Silent_p.Y339Y|ZNF566_uc010xte.2_Silent_p.Y339Y|ZNF566_uc002oeb.4_Silent_p.Y339Y|ZNF566_uc002oec.4_Silent_p.Y235Y|ZNF566_uc010xtg.2_Silent_p.Y235Y	NM_001145343	NP_001138815	Q969W8	ZN566_HUMAN	Homo sapiens zinc finger protein 566 (ZNF566), transcript variant 4, mRNA.	339					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E340K(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24	Esophageal squamous(110;0.162)					CCTTACATTCGTAAGGTTTCT	0.398000														27			16		0	0	1	0	0
ZNF496	84838	broad.mit.edu	37	1	247492096	247492096	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:247492096G>T	uc009xgv.3	-	1	500	c.463C>A	c.(463-465)Ccg>Acg	p.P155T	ZNF496_uc001ico.3_Missense_Mutation_p.P155T|ZNF496_uc010pyv.1_Missense_Mutation_p.P155T	NM_032752	NP_116141	Q96IT1	ZN496_HUMAN	Homo sapiens zinc finger protein 496 (ZNF496), mRNA.	155					positive regulation of transcription, DNA-dependent|viral reproduction		DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			GGCTCTACCGGCAGCTGCTCC	0.602000														167			11		7.03913e-09	8.30711e-09	1	1	0
APBB1	322	broad.mit.edu	37	11	6423400	6423400	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6423400T>C	uc001mdb.1	-	7	1394	c.1294A>G	c.(1294-1296)Aag>Gag	p.K432E	APBB1_uc001mdd.3_Missense_Mutation_p.K212E|APBB1_uc001mdc.1_Missense_Mutation_p.K432E|APBB1_uc010rab.2_5'Flank|APBB1_uc010rad.2_Missense_Mutation_p.K53E|APBB1_uc010rae.1_Missense_Mutation_p.K197E|APBB1_uc009yey.2_Missense_Mutation_p.K173E|APBB1_uc009yfa.2_Missense_Mutation_p.K173E|APBB1_uc010rag.1_Missense_Mutation_p.K173E|APBB1_uc009yfb.2_Missense_Mutation_p.K173E|APBB1_uc001mde.2_Missense_Mutation_p.K173E|APBB1_uc010rah.1_Missense_Mutation_p.K173E	NM_001164	NP_001155	O00213	APBB1_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65) (APBB1), transcript variant 1, mRNA.	432	PID 1.				apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		TCCACTAGCTTTAGTGTCTCA	0.607000														16			12		0	0	1	0	0
AP2A1	160	broad.mit.edu	37	19	50285229	50285229	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:50285229T>C	uc002ppn.3	+	2	373	c.162T>C	c.(160-162)agT>agC	p.S54S	AP2A1_uc010enj.1_Splice_Site|AP2A1_uc002ppo.3_Silent_p.S54S	NM_014203	NP_055018	O95782	AP2A1_HUMAN	Homo sapiens adaptor-related protein complex 2, alpha 1 subunit (AP2A1), transcript variant 1, mRNA.	54					Golgi to endosome transport|axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|clathrin coat of trans-Golgi network vesicle|cytosol	protein binding|protein transporter activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)	19		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)		ATGGCTACAGTAAGAAAAAAT	0.473000														5			6		0	0	1	0	0
CCDC83	220047	broad.mit.edu	37	11	85622381	85622381	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:85622381G>T	uc001pbg.1	+	7	1242	c.730G>T	c.(730-732)Gca>Tca	p.A244S	CCDC83_uc001pbh.1_Missense_Mutation_p.A244S|CCDC83_uc001pbj.1_Missense_Mutation_p.A145S|CCDC83_uc001pbi.1_Non-coding_Transcript	NM_173556	NP_775827	Q8IWF9	CCD83_HUMAN	Homo sapiens coiled-coil domain containing 83 (CCDC83), mRNA.	244										breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|skin(3)|upper_aerodigestive_tract(2)	29		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				TGAACTGGAAGCAGAAAATTT	0.333000														72			26		7.01153e-11	8.50817e-11	1	1	0
FBXO25	26260	broad.mit.edu	37	8	381365	381365	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:381365A>G	uc003wox.3	+	2	425	c.159A>G	c.(157-159)gaA>gaG	p.E53E	FBXO25_uc003woy.3_Silent_p.E53E|FBXO25_uc003woz.3_Missense_Mutation_p.K3R	NM_183421	NP_904357	Q8TCJ0	FBX25_HUMAN	Homo sapiens F-box protein 25 (FBXO25), transcript variant 1, mRNA.	53	Interaction with beta-actin.					SCF ubiquitin ligase complex|nucleus	actin binding|ubiquitin-protein ligase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	10		Ovarian(12;0.00965)|Colorectal(14;0.0815)|Myeloproliferative disorder(644;0.116)|all_neural(12;0.122)		Epithelial(5;3.14e-14)|OV - Ovarian serous cystadenocarcinoma(5;1.56e-07)|BRCA - Breast invasive adenocarcinoma(11;1.88e-06)		AAGATGGAGAAATATTCAATA	0.269000														39			6		0	0	1	0	0
COL11A2	1302	broad.mit.edu	37	6	33157138	33157138	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:33157138C>T	uc003ocx.1	-	1	419	c.191G>A	c.(190-192)cGa>cAa	p.R64Q	COL11A2_uc003ocy.1_Missense_Mutation_p.R64Q|COL11A2_uc003ocz.1_Missense_Mutation_p.R64Q|COL11A2_uc003oda.3_Missense_Mutation_p.R64Q	NM_080680	NP_542411	P13942	COBA2_HUMAN	Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA.	64	TSP N-terminal.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						CTGGGCAGGTCGTGCCACTCG	0.632000														32			17		0	0	1	0	0
OLFM2	93145	broad.mit.edu	37	19	9964942	9964942	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9964942G>T	uc002mmp.3	-	5	1313	c.1285C>A	c.(1285-1287)Ctc>Atc	p.L429I		NM_058164	NP_477512	O95897	NOE2_HUMAN	Homo sapiens olfactomedin 2 (OLFM2), mRNA.	429	Olfactomedin-like.					extracellular region				breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						CAGGTATAGAGGGCGCGCTCC	0.567000														58			6		2.0095e-06	2.27092e-06	1	1	0
MORN1	79906	broad.mit.edu	37	1	2288928	2288928	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:2288928G>T	uc001ajb.1	-	9	1000	c.979C>A	c.(979-981)Ctg>Atg	p.L327M	MORN1_uc009vld.3_Missense_Mutation_p.L303M|MORN1_uc001ajd.1_Missense_Mutation_p.L327M	NM_024848	NP_079124	Q5T089	MORN1_HUMAN	Homo sapiens MORN repeat containing 1 (MORN1), mRNA.	327										breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(1)|ovary(2)	9	all_cancers(77;0.000194)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.3e-15)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;2.21e-37)|OV - Ovarian serous cystadenocarcinoma(86;5.01e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00137)|BRCA - Breast invasive adenocarcinoma(365;0.00488)|STAD - Stomach adenocarcinoma(132;0.00665)|KIRC - Kidney renal clear cell carcinoma(229;0.0203)|Lung(427;0.212)		TGCAGCTCCAGGTCTCCCCTG	0.672000														58			23		3.7963e-18	4.85618e-18	1	1	0
ADIPOR1	51094	broad.mit.edu	37	1	202917539	202917539	+	Nonsense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:202917539C>A	uc001gyq.4	-	2	418	c.151G>T	c.(151-153)Gag>Tag	p.E51*	ADIPOR1_uc010pqd.2_5'UTR|ADIPOR1_uc001gyr.4_5'UTR|ADIPOR1_uc001gys.4_Nonsense_Mutation_p.E51*	NM_015999	NP_057083	Q96A54	ADR1_HUMAN	Homo sapiens adiponectin receptor 1 (ADIPOR1), transcript variant 1, mRNA.	51					fatty acid oxidation|hormone-mediated signaling pathway	integral to membrane|plasma membrane	hormone binding|protein kinase binding|receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(75;0.141)			CATGTTTGCTCTTCTTCAGCC	0.502000														26			24		5.45024e-15	6.85306e-15	1	1	0
SYNRG	11276	broad.mit.edu	37	17	35896177	35896177	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:35896177G>T	uc002hoa.3	-	18	3653	c.3570C>A	c.(3568-3570)gcC>gcA	p.A1190A	SYNRG_uc010wde.2_Silent_p.A1112A|SYNRG_uc010wdf.2_Silent_p.A1112A|SYNRG_uc002hoc.3_Silent_p.A1111A|SYNRG_uc002hoe.3_Silent_p.A1112A|SYNRG_uc002hod.3_Silent_p.A1067A|SYNRG_uc010wdg.2_Silent_p.A984A|SYNRG_uc002hob.3_Silent_p.A1190A	NM_007247	NP_009178	Q9UMZ2	SYNRG_HUMAN	Homo sapiens synergin, gamma (SYNRG), transcript variant 1, mRNA.	1190					endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						ACACTGCAGTGGCTTTTATCC	0.498000														30			4		0.150653	0.152248	1	1	0
ZNF528	84436	broad.mit.edu	37	19	52909181	52909181	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:52909181G>A	uc002pzh.3	+	4	463	c.37G>A	c.(37-39)Gtg>Atg	p.V13M	ZNF528_uc002pzi.3_5'UTR	NM_032423	NP_115799	Q3MIS6	ZN528_HUMAN	Homo sapiens zinc finger protein 528 (ZNF528), mRNA.	13	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		ATTCATGGATGTGGCCATAGA	0.458000														107			67		0	0	1	0	0
LTBP3	4054	broad.mit.edu	37	11	65325242	65325242	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:65325242C>A	uc001oej.3	-	0	458	c.189G>T	c.(187-189)aaG>aaT	p.K63N	LTBP3_uc010roi.2_5'UTR|LTBP3_uc001oei.3_Missense_Mutation_p.K63N|LTBP3_uc010roj.2_Missense_Mutation_p.K49N|LTBP3_uc010rok.1_Intron	NM_001130144	NP_001123616	Q9NS15	LTBP3_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 3 (LTBP3), transcript variant 1, mRNA.	63	Gly-rich.					extracellular region	calcium ion binding|growth factor binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						CAAAGACCACCTTGAAGCGCT	0.711000														14			6		0.00198382	0.00208369	1	1	0
SGK1	6446	broad.mit.edu	37	6	134583151	134583151	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:134583151G>T	uc003qeo.4	-	1	803	c.205C>A	c.(205-207)Ctg>Atg	p.L69M	SGK1_uc003qep.3_Missense_Mutation_p.L69M	NM_001143676	NP_001137148	O00141	SGK1_HUMAN	Homo sapiens serum/glucocorticoid regulated kinase 1 (SGK1), transcript variant 2, mRNA.	0					apoptosis|response to stress|sodium ion transport	endoplasmic reticulum|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)		TGTTCACCCAGGCATGTTTGA	0.527000														119			10		0.0581538	0.0591027	1	1	0
PANK4	55229	broad.mit.edu	37	1	2452612	2452612	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:2452612G>T	uc001ajm.1	-	2	359	c.350C>A	c.(349-351)aCc>aAc	p.T117N	PANK4_uc010nza.1_Missense_Mutation_p.T117N	NM_018216	NP_060686	Q9NVE7	PANK4_HUMAN	Homo sapiens pantothenate kinase 4 (PANK4), mRNA.	117					coenzyme A biosynthetic process	cytoplasm	ATP binding|pantothenate kinase activity			breast(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	23	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		GATGACCTTGGTCTCTGTGTT	0.522000														103			10		2.32078e-09	2.76369e-09	1	1	0
C8B	732	broad.mit.edu	37	1	57425741	57425741	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:57425741C>T	uc001cyp.3	-	1	268	c.201G>A	c.(199-201)ctG>ctA	p.L67L	C8B_uc010oon.2_5'UTR|C8B_uc010ooo.2_Silent_p.L15L	NM_000066	NP_000057	P07358	CO8B_HUMAN	Homo sapiens complement component 8, beta polypeptide (C8B), mRNA.	67	TSP type-1 1.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex		p.L67M(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						ACCAACTAGACAGCTCACAAT	0.517000														57			8		0	0	1	0	0
DST	667	broad.mit.edu	37	6	56400023	56400023	+	Missense_Mutation	SNP	T	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:56400023T>A	uc003pcy.4	-	43	9077	c.8969A>T	c.(8968-8970)gAg>gTg	p.E2990V		NM_015548	NP_056363	Q03001	DYST_HUMAN	Homo sapiens dystonin (DST), transcript variant 1eA, mRNA.	5402					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	Z disc|actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein C-terminus binding|protein binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GAGCAGGGACTCCAGGGCATC	0.552000														78			6		0	0	1	0	0
MARCH4	57574	broad.mit.edu	37	2	217124103	217124103	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:217124103T>C	uc002vgb.3	-	3	2932	c.1165A>G	c.(1165-1167)Aga>Gga	p.R389G		NM_020814	NP_065865	Q9P2E8	MARH4_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 4 (MARCH4), mRNA.	389						Golgi membrane|Golgi stack|integral to membrane|trans-Golgi network	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1)	20		Renal(323;0.0854)		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)		TCATGAGGTCTCAAGTGACTC	0.622000														40			30		0	0	1	0	0
SELP	6403	broad.mit.edu	37	1	169565263	169565263	+	Silent	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:169565263A>C	uc001ggi.4	-	11	2066	c.2001T>G	c.(1999-2001)acT>acG	p.T667T	SELP_uc001ggh.3_Silent_p.T502T|SELP_uc009wvr.3_Silent_p.T667T	NM_003005	NP_002996	P16109	LYAM3_HUMAN	Homo sapiens selectin P (granule membrane protein 140kDa, antigen CD62) (SELP), mRNA.	667	Sushi 8.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	CAAAGTAACAAGTGGTATTAA	0.522000														427			36		0	0	1	0	0
P2RY6	5031	broad.mit.edu	37	11	73007689	73007689	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:73007689G>A	uc021qnb.1	+	0	126	c.126G>A	c.(124-126)ccG>ccA	p.P42P	P2RY6_uc001otm.3_Silent_p.P42P|P2RY6_uc001otn.3_Silent_p.P42P|P2RY6_uc001otq.3_Silent_p.P42P|P2RY6_uc001otr.3_Silent_p.P42P|P2RY6_uc001ots.3_Silent_p.P42P	NM_176798	NP_789768	Q15077	P2RY6_HUMAN	Homo sapiens pyrimidinergic receptor P2Y, G-protein coupled, 6 (P2RY6), transcript variant 2, mRNA.	42					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)	14						CTGGCCTGCCGCTGAACATCT	0.617000														79			68		0	0	1	0	0
PLXNA1	5361	broad.mit.edu	37	3	126734114	126734114	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:126734114G>T	uc003ejg.3	+	13	2965	c.2965G>T	c.(2965-2967)Ggc>Tgc	p.G989C		NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	Homo sapiens plexin A1 (PLXNA1), mRNA.	989	IPT/TIG 2.				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		CCTGAACGCAGGCAGTGATGT	0.662000														30			21		1.22574e-08	1.44238e-08	1	1	0
ANXA10	11199	broad.mit.edu	37	4	169105788	169105788	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:169105788C>T	uc003irm.3	+	10	1026	c.862C>T	c.(862-864)Cga>Tga	p.R288*	ANXA10_uc003irn.3_Nonsense_Mutation_p.R160*	NM_007193	NP_009124	Q9UJ72	ANX10_HUMAN	Homo sapiens annexin A10 (ANXA10), mRNA.	288							calcium ion binding|calcium-dependent phospholipid binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(2)	16		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0325)		CATAAGGAAACGATACAAAGA	0.363000														89			45		0	0	1	0	0
PLD1	5337	broad.mit.edu	37	3	171392294	171392294	+	Missense_Mutation	SNP	A	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:171392294A>T	uc003fhs.3	-	18	2572	c.2225T>A	c.(2224-2226)gTa>gAa	p.V742E	PLD1_uc003fht.3_Missense_Mutation_p.V704E|PLD1_uc003fhu.4_Missense_Mutation_p.V36E|PLD1_uc003fhv.1_Missense_Mutation_p.V67E	NM_002662	NP_002653	Q13393	PLD1_HUMAN	Homo sapiens phospholipase D1, phosphatidylcholine-specific (PLD1), transcript variant 1, mRNA.	742	Catalytic.				Ras protein signal transduction|cell communication|chemotaxis	Golgi membrane|endoplasmic reticulum membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	ACTTACCTGTACGTTAGCATG	0.393000														34			28		0	0	1	0	0
ADSL	158	broad.mit.edu	37	22	40745935	40745935	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:40745935C>T	uc003ayp.4	+	1	312	c.253C>T	c.(253-255)Cga>Tga	p.R85*	ADSL_uc003ays.4_Nonsense_Mutation_p.R85*	NM_000026	NP_000017	P30566	PUR8_HUMAN	Homo sapiens adenylosuccinate lyase (ADSL), transcript variant 1, mRNA.	85					AMP biosynthetic process|protein tetramerization|purine base metabolic process	cytosol	(S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity|N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(2)|ovary(1)|prostate(1)	19						GAAACGTTTACGACATGATGT	0.458000														36			26		0	0	1	0	0
CEP350	9857	broad.mit.edu	37	1	180012259	180012259	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:180012259G>A	uc001gnt.3	+	19	4814	c.4431G>A	c.(4429-4431)ctG>ctA	p.L1477L	CEP350_uc009wxl.2_Silent_p.L1476L	NM_014810	NP_055625	Q5VT06	CE350_HUMAN	Homo sapiens centrosomal protein 350kDa (CEP350), mRNA.	1477						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						TTGCAATACTGTATGACCACC	0.428000														106			9		0	0	1	0	0
SZT2	23334	broad.mit.edu	37	1	43895487	43895487	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:43895487C>T	uc001cjk.2	+	27	4193	c.1583C>T	c.(1582-1584)gCc>gTc	p.A528V		NM_015284	NP_056099	Q5T011	SZT2_HUMAN	Homo sapiens seizure threshold 2 homolog (mouse) (SZT2), mRNA.	1427						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						AGAGGAGAGGCCCATGGTGCC	0.582000														31			23		0	0	1	0	0
ABCA1	19	broad.mit.edu	37	9	107555451	107555451	+	Splice_Site	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:107555451C>A	uc004bcl.3	-	41	6040	c.5636_splice	c.e41+1	p.R1879_splice		NM_005502	NP_005493	O95477	ABCA1_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 1 (ABCA1), mRNA.	1879					Cdc42 protein signal transduction|G-protein coupled receptor protein signaling pathway|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	ATP binding|ATPase activity|anion transmembrane transporter activity|apolipoprotein A-I receptor activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	AAAAAGCTCACCTGGGCCTGA	0.532000														79			41		6.57855e-14	8.21589e-14	1	1	0
MPP2	4355	broad.mit.edu	37	17	41955231	41955231	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:41955231C>A	uc010win.1	-	11	1789	c.1186G>T	c.(1186-1188)Gcc>Tcc	p.A396S	MPP2_uc002ien.1_Missense_Mutation_p.A552S|MPP2_uc010wim.1_Missense_Mutation_p.A524S|MPP2_uc002ieo.1_Missense_Mutation_p.A535S|MPP2_uc010wio.1_Missense_Mutation_p.A524S|MPP2_uc010wip.1_Missense_Mutation_p.A580S			Q14168	MPP2_HUMAN	Homo sapiens membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2) (MPP2), mRNA.	559	Guanylate kinase-like.				signal transduction	cell surface|integral to plasma membrane|membrane fraction	guanylate kinase activity			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.00314)		BRCA - Breast invasive adenocarcinoma(366;0.12)		TTCTCCATGGCTGTCTGGAGC	0.592000														52			33		2.42023e-17	3.08103e-17	1	1	0
KCNJ6	3763	broad.mit.edu	37	21	39087049	39087049	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:39087049G>A	uc011aej.1	-	2	464	c.411C>T	c.(409-411)aaC>aaT	p.N137N	KCNJ6_uc002ywo.2_Silent_p.N137N	NM_002240	NP_002231	P48051	IRK6_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 6 (KCNJ6), mRNA.	137					synaptic transmission	Golgi apparatus|voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22					Halothane(DB01159)	AGACGAACCCGTTGAGGTTGG	0.468000														58			33		0	0	1	0	0
PITX1	5307	broad.mit.edu	37	5	134367153	134367153	+	Missense_Mutation	SNP	G	A	A	rs139844695		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:134367153G>A	uc010jea.3	-	1	608	c.215C>T	c.(214-216)gCg>gTg	p.A72V	AK026965_uc003laj.1_5'Flank	NM_002653	NP_002644	P78337	PITX1_HUMAN	Homo sapiens paired-like homeodomain 1 (PITX1), mRNA.	72						nucleolus	sequence-specific DNA binding			central_nervous_system(1)|cervix(3)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	READ - Rectum adenocarcinoma(2;0.0607)		CGTGCCTCCCGCACCACTGTC	0.677000														14			9		0	0	1	0	0
MARS	4141	broad.mit.edu	37	12	57891945	57891945	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57891945C>A	uc001sog.3	+	7	930	c.776C>A	c.(775-777)cCt>cAt	p.P259H	MARS_uc001sof.1_Non-coding_Transcript|MARS_uc010srp.1_Missense_Mutation_p.P132H|MARS_uc010srq.1_Missense_Mutation_p.P25H	NM_004990	NP_004981	P56192	SYMC_HUMAN	Homo sapiens methionyl-tRNA synthetase (MARS), mRNA.	259					methionyl-tRNA aminoacylation	cytosol	ATP binding|methionine-tRNA ligase activity|protein binding|tRNA binding			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	33			GBM - Glioblastoma multiforme(3;4.27e-41)		L-Methionine(DB00134)	ACTAGGTTGCCTGTGGCTGGA	0.517000														37			27		1.16021e-09	1.38643e-09	1	1	0
KIAA1199	57214	broad.mit.edu	37	15	81234667	81234667	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:81234667G>A	uc002bfw.1	+	25	3948	c.3688G>A	c.(3688-3690)Gct>Act	p.A1230T	KIAA1199_uc010unn.1_Missense_Mutation_p.A1230T	NM_018689	NP_061159	Q8WUJ3	K1199_HUMAN	Homo sapiens KIAA1199 (KIAA1199), mRNA.	1230										breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						GAACGACTTCGCTTACATTGA	0.483000														49			30		0	0	1	0	0
TNFRSF21	27242	broad.mit.edu	37	6	47221096	47221096	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:47221096G>A	uc003oyv.3	-	3	1838	c.1405C>T	c.(1405-1407)Cgg>Tgg	p.R469W		NM_014452	NP_055267	O75509	TNR21_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 21 (TNFRSF21), mRNA.	469	Death.				cellular lipid metabolic process	cytoplasm|integral to membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21			Lung(136;0.189)			TCGGGGCCCCGGATGGTCCAG	0.607000														14			4		0	0	1	0	0
FAM171A1	221061	broad.mit.edu	37	10	15256494	15256494	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:15256494G>T	uc001iob.3	-	7	1100	c.1093C>A	c.(1093-1095)Ctg>Atg	p.L365M		NM_001010924	NP_001010924	Q5VUB5	F1711_HUMAN	Homo sapiens family with sequence similarity 171, member A1 (FAM171A1), mRNA.	365						integral to membrane				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						CGTGAAAACAGCAAGTTAATG	0.587000														25			15		6.72482e-11	8.1643e-11	1	1	0
SLC39A5	283375	broad.mit.edu	37	12	56629383	56629383	+	Nonsense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56629383G>T	uc010sqj.2	+	7	1101	c.844G>T	c.(844-846)Gag>Tag	p.E282*	SLC39A5_uc010sqi.2_Nonsense_Mutation_p.E173*|SLC39A5_uc010sqk.2_Nonsense_Mutation_p.E282*	NM_173596	NP_775867	Q6ZMH5	S39A5_HUMAN	Homo sapiens solute carrier family 39 (metal ion transporter), member 5 (SLC39A5), transcript variant 1, mRNA.	282					zinc ion transport	basolateral plasma membrane|integral to membrane	metal ion transmembrane transporter activity			NS(1)|cervix(6)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CGGACTACCAGAGAAGGACCT	0.627000														219			18		3.99206e-14	4.99145e-14	1	1	0
KIAA0913	23053	broad.mit.edu	37	10	75550024	75550024	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:75550024C>T	uc001jvj.3	+	6	1170	c.915C>T	c.(913-915)ttC>ttT	p.F305F	KIAA0913_uc001jve.3_Silent_p.F305F|KIAA0913_uc009xrl.3_Silent_p.F305F|KIAA0913_uc001jvf.3_Silent_p.F305F|KIAA0913_uc001jvh.3_5'Flank|KIAA0913_uc001jvi.3_5'Flank|KIAA0913_uc010qkr.2_5'Flank	NM_001242488	NP_001229417	A7E2V4	K0913_HUMAN	Homo sapiens KIAA0913 (KIAA0913), transcript variant 3, mRNA.	305							zinc ion binding	p.F305L(2)		breast(3)|cervix(1)|endometrium(6)|kidney(3)|lung(6)	19	Prostate(51;0.0112)					TGCACAAGTTCTGTGGCCCCT	0.542000														74			41		0	0	1	0	0
PROX2	283571	broad.mit.edu	37	14	75330051	75330051	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:75330051G>A	uc021rwo.1	-	0	487	c.487C>T	c.(487-489)Cca>Tca	p.P163S	PROX2_uc001xqp.2_Missense_Mutation_p.P163S|PROX2_uc001xqq.2_Missense_Mutation_p.P163S	NM_001080408	NP_001229936	Q3B8N5	PROX2_HUMAN	Homo sapiens prospero homeobox 2 (PROX2), transcript variant 2, mRNA.	163					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			kidney(1)|large_intestine(2)|lung(3)	6			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00652)		CAGCCTCCTGGCCCCTGAGCT	0.602000														16			16		0	0	1	0	0
MYH10	4628	broad.mit.edu	37	17	8508150	8508150	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:8508150G>T	uc002glm.3	-	2	592	c.496C>A	c.(496-498)Ctt>Att	p.L166I	MYH10_uc002gll.3_Missense_Mutation_p.L166I|MYH10_uc010cnx.3_Missense_Mutation_p.L166I	NM_005964	NP_005955	P35580	MYH10_HUMAN	Homo sapiens myosin, heavy chain 10, non-muscle (MYH10), transcript variant 2, mRNA.	166	Myosin head-like.				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	ADP binding|ATP binding|actin filament binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						TTACCTTGAAGCATGCATCTG	0.303000														71			20		2.21704e-12	2.7329e-12	1	1	0
FOXN2	3344	broad.mit.edu	37	2	48602548	48602548	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:48602548C>A	uc002rwh.1	+	6	1577	c.1262C>A	c.(1261-1263)gCa>gAa	p.A421E		NM_002158	NP_002149	P32314	FOXN2_HUMAN	Homo sapiens forkhead box N2 (FOXN2), mRNA.	421					embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA 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			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.0272)|LUSC - Lung squamous cell carcinoma(58;0.036)			ATAAGTACTGCAAAGACACAA	0.383000														14			9		0.000274275	0.000294507	1	1	0
PMFBP1	83449	broad.mit.edu	37	16	72164161	72164161	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:72164161G>A	uc002fcc.4	-	11	1920	c.1748C>T	c.(1747-1749)gCt>gTt	p.A583V	PMFBP1_uc002fcd.3_Missense_Mutation_p.A578V|PMFBP1_uc002fce.3_Intron|PMFBP1_uc002fcf.3_Missense_Mutation_p.A433V|PMFBP1_uc010cgo.1_5'Flank	NM_031293	NP_112583	Q8TBY8	PMFBP_HUMAN	Homo sapiens polyamine modulated factor 1 binding protein 1 (PMFBP1), transcript variant 1, mRNA.	583										NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				ATCCTGCTCAGCCACTGTCTT	0.463000														52			18		0	0	1	0	0
TCF20	6942	broad.mit.edu	37	22	42610433	42610433	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:42610433C>T	uc003bcj.1	-	0	1013	c.879G>A	c.(877-879)caG>caA	p.Q293Q	TCF20_uc003bck.1_Silent_p.Q293Q	NM_005650	NP_005641	Q9UGU0	TCF20_HUMAN	Homo sapiens transcription factor 20 (AR1) (TCF20), transcript variant 1, mRNA.	293					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	p.Q293E(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						TAGATTGAGGCTGATAGCTGT	0.463000														82			39		0	0	1	0	0
TREX1	11277	broad.mit.edu	37	3	48508920	48508920	+	Missense_Mutation	SNP	C	T	T	rs79318303		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:48508920C>T	uc003ctj.3	+	1	2288	c.1031C>T	c.(1030-1032)gCc>gTc	p.A344V	TREX1_uc010hjy.3_Missense_Mutation_p.A289V|TREX1_uc010hjz.3_Missense_Mutation_p.A289V|TREX1_uc003ctk.3_Missense_Mutation_p.A150V|TREX1_uc010hka.3_Missense_Mutation_p.A344V	NM_033629	NP_338599	Q9NSU2	TREX1_HUMAN	Homo sapiens three prime repair exonuclease 1 (TREX1), transcript variant 4, mRNA.	344					DNA recombination|DNA replication|cell death|mismatch repair	nuclear envelope	3'-5'-exodeoxyribonuclease activity|MutLalpha complex binding|MutSalpha complex binding|exodeoxyribonuclease III activity|metal ion binding|protein homodimerization activity|single-stranded DNA binding			breast(1)|kidney(1)|large_intestine(1)|lung(3)|skin(3)	9				BRCA - Breast invasive adenocarcinoma(193;0.000286)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		GGGCTGCTGGCCCCACTGGGT	0.592000														33			30		0	0	1	0	0
PKD1	5310	broad.mit.edu	37	16	2140444	2140444	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:2140444A>G	uc002cos.1	-	44	12495	c.12286T>C	c.(12286-12288)Tgg>Cgg	p.W4096R	TCRBV20S1_uc021tak.1_Intron|PKD1_uc002cot.1_Missense_Mutation_p.W4095R|MIR1225_uc021tap.1_5'Flank	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	Homo sapiens polycystic kidney disease 1 (autosomal dominant) (PKD1), transcript variant 1, mRNA.	4096					calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						AGGGCGCCCCACAGCCGCAGT	0.677000														9			4		0	0	1	0	0
FHOD3	80206	broad.mit.edu	37	18	34326954	34326954	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:34326954G>T	uc021uiv.1	+	23	4185	c.4088G>T	c.(4087-4089)aGa>aTa	p.R1363I	FHOD3_uc002kzs.1_Missense_Mutation_p.R1188I|FHOD3_uc002kzt.1_Missense_Mutation_p.R1171I|FHOD3_uc010dmz.1_Missense_Mutation_p.R903I|FHOD3_uc010dnb.1_Missense_Mutation_p.R167I	NM_025135	NP_079411	Q2V2M9	FHOD3_HUMAN	Homo sapiens formin homology 2 domain containing 3 (FHOD3), mRNA.	1171	DAD.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				ATGGAGAGAAGATGCAAAGCT	0.433000														32			21		3.62473e-10	4.36059e-10	1	1	0
TBL3	10607	broad.mit.edu	37	16	2027420	2027420	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:2027420C>A	uc002cnu.1	+	15	1837	c.1735C>A	c.(1735-1737)Ctg>Atg	p.L579M	TCRBV20S1_uc021tak.1_Intron|TBL3_uc002cnv.1_Missense_Mutation_p.L465M|TBL3_uc010bsc.1_Missense_Mutation_p.L446M|TBL3_uc010uvt.1_Missense_Mutation_p.L48M|TBL3_uc002cnw.1_5'Flank	NM_006453	NP_006444	Q12788	TBL3_HUMAN	Homo sapiens transducin (beta)-like 3 (TBL3), mRNA.	579					G-protein signaling, coupled to cGMP nucleotide second messenger|rRNA processing	nucleolus|small-subunit processome	receptor signaling protein activity			breast(1)|endometrium(2)|kidney(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	18						CACGCAGCTGCTGTCCAGGTG	0.657000														26			16		7.07596e-05	7.73367e-05	1	1	0
CXCR7	57007	broad.mit.edu	37	2	237490082	237490082	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:237490082A>G	uc021vys.1	+	0	974	c.974A>G	c.(973-975)gAg>gGg	p.E325G	CXCR7_uc010fyq.3_Missense_Mutation_p.E325G|CXCR7_uc002vwd.3_Missense_Mutation_p.E325G	NM_020311	NP_064707	P25106	CXCR7_HUMAN	Homo sapiens chemokine (C-X-C motif) receptor 7 (CXCR7), mRNA.	325					interspecies interaction between organisms	integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			central_nervous_system(1)|large_intestine(2)|skin(1)	4		Breast(86;0.000182)|Renal(207;0.00339)|all_hematologic(139;0.0048)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|all_lung(227;0.147)|all_neural(83;0.223)		Epithelial(121;8.35e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.09e-11)|Kidney(56;1.11e-07)|KIRC - Kidney renal clear cell carcinoma(57;3.03e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000176)|Lung(119;0.00468)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.118)		TACAGGTACGAGCTGATGAAG	0.557000														37			6		0	0	1	0	0
ZWINT	11130	broad.mit.edu	37	10	58118442	58118442	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:58118442G>A	uc001jjx.1	-	6	704	c.667C>T	c.(667-669)Ctg>Ttg	p.L223L	ZWINT_uc001jjy.1_Silent_p.L176L|ZWINT_uc001jka.1_Silent_p.L223L|ZWINT_uc009xoy.1_Non-coding_Transcript	NM_007057	NP_127490	O95229	ZWINT_HUMAN	Homo sapiens ZW10 interactor (ZWINT), transcript variant 1, mRNA.	223					cell division|establishment of localization in cell|mitotic cell cycle checkpoint|mitotic prometaphase|mitotic sister chromatid segregation|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytosol|nucleus	protein N-terminus binding			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)	20						GGGAACAACAGCTTACCCTGC	0.517000														26			15		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140237081	140237081	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140237081C>T	uc003lhx.2	+	0	1448	c.1448C>T	c.(1447-1449)gCg>gTg	p.A483V	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Missense_Mutation_p.A483V|PCDHAC2_uc011dad.2_Missense_Mutation_p.A483V	NM_018901	NP_061724	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 10 (PCDHA10), transcript variant 1, mRNA.	498	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)			GACGCGGACGCGCAGGAGAAC	0.662000														68			24		0	0	1	0	0
LOC341056	341056	broad.mit.edu	37	11	122889415	122889415	+	RNA	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:122889415C>A	uc010rzt.2	+	0		c.1142C>A								Homo sapiens SUMO1 activating enzyme subunit 1 pseudogene (LOC341056), non-coding RNA.																		TGCAACATGCCTGCCTGTATT	0.532000														8			3		0.115264	0.116841	1	1	0
PIK3CD	5293	broad.mit.edu	37	1	9776516	9776516	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:9776516G>T	uc001aqe.4	+	4	827	c.619G>T	c.(619-621)Gtg>Ttg	p.V207L	PIK3CD_uc001aqb.4_Missense_Mutation_p.V207L|PIK3CD_uc010oaf.2_Missense_Mutation_p.V207L|PIK3CD_uc021ogb.1_5'UTR	NM_005026	NP_005017	O00329	PK3CD_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, delta polypeptide (PIK3CD), mRNA.	207					phosphatidylinositol-mediated signaling|protein phosphorylation	phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)		CACCTTCCAGGTGTCCACCAA	0.667000														18			13		9.31168e-06	1.03939e-05	1	1	0
FAM65A	79567	broad.mit.edu	37	16	67578270	67578270	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:67578270C>T	uc010vjp.2	+	14	2915	c.2729C>T	c.(2728-2730)aCg>aTg	p.T910M	FAM65A_uc002eth.3_Missense_Mutation_p.T890M|FAM65A_uc010cej.3_Missense_Mutation_p.T894M|FAM65A_uc010vjq.2_Missense_Mutation_p.T904M|FAM65A_uc002etk.3_Missense_Mutation_p.T888M	NM_001193523	NP_078795	Q6ZS17	FA65A_HUMAN	Homo sapiens family with sequence similarity 65, member A (FAM65A), transcript variant 3, mRNA.	894						cytoplasm	binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		CCCCTCAGCACGGGGTGTCCA	0.642000														90			31		0	0	1	0	0
FAM173B	134145	broad.mit.edu	37	5	10227731	10227731	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:10227731C>T	uc003jeo.2	-	4	553	c.524G>A	c.(523-525)cGt>cAt	p.R175H	FAM173B_uc003jep.2_Non-coding_Transcript|FAM173B_uc010itr.2_Missense_Mutation_p.R158H	NM_199133	NP_954584	Q6P4H8	F173B_HUMAN	Homo sapiens family with sequence similarity 173, member B (FAM173B), mRNA.	175						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	16						CTCAAGTTCACGTTCAAGTTT	0.473000														23			12		0	0	1	0	0
SRGAP2	23380	broad.mit.edu	37	1	206632041	206632041	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:206632041C>T	uc001hdy.3	+	18	2320	c.2319C>T	c.(2317-2319)tcC>tcT	p.S773S	SRGAP2_uc010pru.2_Silent_p.S772S	NM_015326	NP_056141	O75044	FNBP2_HUMAN	Homo sapiens SLIT-ROBO Rho GTPase activating protein 2 (SRGAP2), transcript variant 1, mRNA.	860	SH3.				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			NS(1)|breast(1)|kidney(1)|lung(1)	4	Breast(84;0.137)					TGAGCAGTTCCCTGACTGACT	0.572000														10			4		0	0	1	0	0
HGSNAT	138050	broad.mit.edu	37	8	43014188	43014188	+	Splice_Site	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:43014188G>A	uc003xpx.4	+	4	541	c.493_splice	c.e4+1	p.P165_splice		NM_152419	NP_689632	Q68CP4	HGNAT_HUMAN	Homo sapiens heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT), mRNA.	193			L -> P (in MPS3C; results in a negligible amount of protein synthesis and very low enzyme activity; retained in the endoplasmic reticulum).		lysosomal transport|protein oligomerization	integral to membrane|lysosomal membrane	heparan-alpha-glucosaminide N-acetyltransferase activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(6)	13	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			AGTAACCTTCGTACGTATATG	0.393000														23			8		0	0	1	0	0
RTL1	388015	broad.mit.edu	37	14	101350844	101350844	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:101350844G>A	uc010txj.1	-	0	341	c.282C>T	c.(280-282)gaC>gaT	p.D94D	MIR432_uc021sce.1_Non-coding_Transcript|MIR136_uc010txk.1_5'Flank	NM_001134888	NP_001128360	E9PKS8	E9PKS8_HUMAN	Homo sapiens retrotransposon-like 1 (RTL1), mRNA.	94										breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						CTTGGAGTAGGTCATTGGGTG	0.537000														33			14		0	0	1	0	0
FER1L6	654463	broad.mit.edu	37	8	124992896	124992896	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:124992896C>A	uc003yqw.3	+	10	1461	c.1255C>A	c.(1255-1257)Ctg>Atg	p.L419M		NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.	419						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			TTCCAAGGCCCTGAAGGAGCT	0.468000											OREG0018964	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		74			6		0.00116845	0.00123466	1	1	0
MIS18BP1	55320	broad.mit.edu	37	14	45700410	45700410	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:45700410G>A	uc001wwf.3	-	7	1987	c.1528C>T	c.(1528-1530)Cga>Tga	p.R510*	MIS18BP1_uc010anh.2_Non-coding_Transcript	NM_018353	NP_060823	Q6P0N0	M18BP_HUMAN	Homo sapiens MIS18 binding protein 1 (MIS18BP1), mRNA.	510				R -> Q (in Ref. 1; BAB67796).	CenH3-containing nucleosome assembly at centromere|cell division|mitosis	chromosome, centromeric region|nucleoplasm	DNA binding	p.R510Q(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						TGGTTTTCTCGTGCATCATTT	0.373000														38			22		0	0	1	0	0
WDR4	10785	broad.mit.edu	37	21	44283614	44283614	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:44283614G>A	uc002zci.3	-	3	462	c.389C>T	c.(388-390)tCg>tTg	p.S130L	WDR4_uc002zck.1_Missense_Mutation_p.S130L|WDR4_uc002zcl.1_5'UTR|WDR4_uc010gpg.1_Missense_Mutation_p.S130L|WDR4_uc011aew.1_5'UTR|WDR4_uc010gph.1_5'UTR	NM_033661	NP_387510	P57081	WDR4_HUMAN	Homo sapiens WD repeat domain 4 (WDR4), transcript variant 2, mRNA.	130					tRNA modification	cytoplasm|nucleoplasm	protein binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|ovary(2)	11				Colorectal(79;0.0165)|Lung(125;0.0484)|STAD - Stomach adenocarcinoma(101;0.0624)|COAD - Colon adenocarcinoma(84;0.128)|LUSC - Lung squamous cell carcinoma(216;0.244)		CTCCAGCACCGAAAAGGAGTA	0.592000														24			14		0	0	1	0	0
F8	2157	broad.mit.edu	37	X	154133299	154133299	+	Splice_Site	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:154133299C>A	uc004fmt.3	-	16	5545	c.5374_splice	c.e16-1	p.V1792_splice	F8_uc010nvi.1_Intron	NM_000132	NP_000123	P00451	FA8_HUMAN	Homo sapiens coagulation factor VIII, procoagulant component (F8), transcript variant 1, mRNA.	1792	F5/8 type A 3.|Plastocyanin-like 5.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TGAAAGTTACCTGTAGAACAA	0.368000														36			21		4.96729e-08	5.78267e-08	1	1	0
TMCO3	55002	broad.mit.edu	37	13	114149983	114149983	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:114149983G>A	uc001vtu.4	+	1	448	c.87G>A	c.(85-87)gcG>gcA	p.A29A	TMCO3_uc001vtt.4_Silent_p.A29A	NM_017905	NP_060375	Q6UWJ1	TMCO3_HUMAN	Homo sapiens transmembrane and coiled-coil domains 3 (TMCO3), mRNA.	29						integral to membrane	solute:hydrogen antiporter activity			NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1)	25	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	all cancers(43;0.0317)			AGGAGGTGGCGCAGCGTGTGA	0.647000														22			12		0	0	1	0	0
TRAPPC12	51112	broad.mit.edu	37	2	3428406	3428406	+	Nonsense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:3428406C>A	uc002qxm.1	+	4	1595	c.1389C>A	c.(1387-1389)taC>taA	p.Y463*	TRAPPC12_uc002qxn.1_Nonsense_Mutation_p.Y463*|TRAPPC12_uc010ewm.1_Nonsense_Mutation_p.Y463*	NM_016030	NP_057114	Q8WVT3	TTC15_HUMAN	Homo sapiens trafficking protein particle complex 12 (TRAPPC12), mRNA.	463							binding										ATTACGAGTACTACCCGCACG	0.443000														198			16		1.01871e-10	1.23424e-10	1	1	0
PITPNM1	9600	broad.mit.edu	37	11	67261829	67261829	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:67261829G>A	uc001olx.3	-	17	2934	c.2745C>T	c.(2743-2745)aaC>aaT	p.N915N	PITPNM1_uc001olw.3_Silent_p.N197N|PITPNM1_uc001oly.3_Silent_p.N915N|PITPNM1_uc001olz.3_Silent_p.N914N	NM_004910	NP_004901	O00562	PITM1_HUMAN	Homo sapiens phosphatidylinositol transfer protein, membrane-associated 1 (PITPNM1), transcript variant 1, mRNA.	915					brain development|lipid metabolic process|phototransduction|protein transport	Golgi cisterna membrane|cleavage furrow|endoplasmic reticulum membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						TGGAAGTGACGTTCTAGAGGG	0.682000														7			10		0	0	1	0	0
TAS2R13	50838	broad.mit.edu	37	12	11061323	11061323	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:11061323G>T	uc001qzg.1	-	0	839	c.575C>A	c.(574-576)aCt>aAt	p.T192N	PRH1_uc001qzb.4_Intron|TAS2R14_uc021qve.1_Intron|PRH1_uc021qvg.1_Intron|PRB4_uc001qzf.1_Intron	NM_023920	NP_076409	Q9NYV9	T2R13_HUMAN	Homo sapiens taste receptor, type 2, member 13 (TAS2R13), mRNA.	192					sensory perception of taste	integral to membrane	taste receptor activity			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						GAAGGCCACAGTAAATGGTGT	0.388000														81			14		0.000151284	0.000164177	1	1	0
FST	10468	broad.mit.edu	37	5	52779374	52779374	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:52779374C>T	uc003jpd.3	+	2	676	c.318C>T	c.(316-318)tgC>tgT	p.C106C	FST_uc003jpc.3_Silent_p.C106C	NM_013409	NP_037541	P19883	FST_HUMAN	Homo sapiens follistatin (FST), transcript variant FST344, mRNA.	106	Follistatin-like 1.				hemopoietic progenitor cell differentiation|negative regulation of activin receptor signaling pathway|negative regulation of follicle-stimulating hormone secretion|negative regulation of transcription from RNA polymerase II promoter|positive regulation of hair follicle development	extracellular region	activin binding|protein binding|signal transducer activity			breast(1)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|urinary_tract(1)	15		Ovarian(174;1.78e-06)|Lung NSC(810;3.55e-06)|Breast(144;4.08e-05)				GGAAAAAATGCCGAATGAACA	0.537000														22			5		0	0	1	0	0
HK1	3098	broad.mit.edu	37	10	71129352	71129352	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:71129352C>T	uc001jpl.4	+	6	948	c.847C>T	c.(847-849)Cgg>Tgg	p.R283W	HK1_uc001jpg.4_Missense_Mutation_p.R271W|HK1_uc001jph.4_Missense_Mutation_p.R287W|HK1_uc001jpi.4_Missense_Mutation_p.R287W|HK1_uc001jpj.4_Missense_Mutation_p.R318W|HK1_uc001jpk.4_Missense_Mutation_p.R282W|HK1_uc009xqd.3_Missense_Mutation_p.R161W	NM_000188	NP_000179	P19367	HXK1_HUMAN	Homo sapiens hexokinase 1 (HK1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	283	Regulatory.				glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity	p.R283R(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						GGAGATAGACCGGGGATCCCT	0.478000														23			8		0	0	1	0	0
PEX7	5191	broad.mit.edu	37	6	137193348	137193348	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:137193348C>A	uc003qhd.3	+	7	862	c.760C>A	c.(760-762)Cat>Aat	p.H254N	PEX7_uc010kgx.3_Non-coding_Transcript	NM_000288	NP_000279	O00628	PEX7_HUMAN	Homo sapiens peroxisomal biogenesis factor 7 (PEX7), mRNA.	254					ether lipid biosynthetic process|protein import into peroxisome matrix	peroxisome	peroxisome matrix targeting signal-2 binding			lung(7)|prostate(1)	8	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000257)|OV - Ovarian serous cystadenocarcinoma(155;0.00492)		TTCACCATTTCATGCTTCTGT	0.318000														60			36		1.36161e-19	1.75324e-19	1	1	0
TMC2	117532	broad.mit.edu	37	20	2592911	2592911	+	Silent	SNP	C	T	T	rs144876435	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:2592911C>T	uc002wgf.1	+	12	1683	c.1668C>T	c.(1666-1668)aaC>aaT	p.N556N	TMC2_uc002wgg.1_Silent_p.N540N|TMC2_uc010zpw.1_Silent_p.N388N|TMC2_uc010zpx.1_Silent_p.N387N	NM_080751	NP_542789	Q8TDI7	TMC2_HUMAN	Homo sapiens transmembrane channel-like 2 (TMC2), mRNA.	556						integral to membrane				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						CTGGTTGGAACGAGAGTGTCC	0.498000														98			10		0	0	1	0	0
H6PD	9563	broad.mit.edu	37	1	9322333	9322333	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:9322333C>T	uc001apt.3	+	3	1234	c.961C>T	c.(961-963)Cgc>Tgc	p.R321C		NM_004285	NP_004276	O95479	G6PE_HUMAN	Homo sapiens hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase) (H6PD), mRNA.	321	Glucose 1-dehydrogenase.					endoplasmic reticulum lumen	6-phosphogluconolactonase activity|NADP binding|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)	NADH(DB00157)	TGAGCAGGTGCGCAGAGAGCT	0.677000														3			5		0	0	1	0	0
PCDHB10	56126	broad.mit.edu	37	5	140574228	140574228	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140574228G>A	uc003lix.3	+	0	2277	c.2103G>A	c.(2101-2103)tcG>tcA	p.S701S		NM_018930	NP_061753	Q9UN67	PCDBA_HUMAN	Homo sapiens protocadherin beta 10 (PCDHB10), mRNA.	701					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGGTGTCTTCGCTCTTCCTCC	0.706000														67			45		0	0	1	0	0
IMPDH1	3614	broad.mit.edu	37	7	128049358	128049358	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:128049358C>T	uc003vmu.2	-	2	320	c.239G>A	c.(238-240)cGc>cAc	p.R80H	IMPDH1_uc003vmx.2_Missense_Mutation_p.R3H|IMPDH1_uc003vmy.2_Intron|IMPDH1_uc003vmw.2_Missense_Mutation_p.R70H|IMPDH1_uc011kon.1_Missense_Mutation_p.R80H|IMPDH1_uc003vmv.2_Intron	NM_000883	NP_000874	P20839	IMDH1_HUMAN	Homo sapiens IMP (inosine 5'-monophosphate) dehydrogenase 1 (IMPDH1), transcript variant 1, mRNA.	0					GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	DNA binding|IMP dehydrogenase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)	22					Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)|Ribavirin(DB00811)|Thioguanine(DB00352)	CCTGCGAAGGCGATCCATCTG	0.562000														23			11		0	0	1	0	0
TRPM6	140803	broad.mit.edu	37	9	77457137	77457137	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:77457137G>A	uc004ajl.1	-	3	513	c.275C>T	c.(274-276)aCa>aTa	p.T92I	TRPM6_uc004ajk.1_Missense_Mutation_p.T87I|TRPM6_uc022bib.1_Missense_Mutation_p.T87I|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Missense_Mutation_p.T92I|TRPM6_uc010mpd.1_Missense_Mutation_p.T92I|TRPM6_uc010mpe.1_Missense_Mutation_p.T92I|TRPM6_uc004ajn.1_Missense_Mutation_p.T92I	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 6 (TRPM6), transcript variant a, mRNA.	92					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						AAAAGTATCTGTTGGGCTTTT	0.418000														101			10		0	0	1	0	0
TAF7L	54457	broad.mit.edu	37	X	100537368	100537368	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:100537368A>G	uc004ehb.3	-	4	637	c.611T>C	c.(610-612)aTa>aCa	p.I204T	TAF7L_uc004eha.3_Missense_Mutation_p.I118T|TAF7L_uc004ehc.2_Missense_Mutation_p.I118T	NM_024885	NP_001161946	Q5H9L4	TAF7L_HUMAN	Homo sapiens TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa (TAF7L), transcript variant 1, mRNA.	204					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter	cytoplasm|transcription factor TFIID complex	binding			NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						TTTCCTGACTATATTAGGATC	0.423000														77			6		0	0	1	0	0
OCLN	100506658	broad.mit.edu	37	5	68805040	68805040	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:68805040G>A	uc003jwu.3	+	2	559	c.123G>A	c.(121-123)caG>caA	p.Q41Q	OCLN_uc003jwv.4_Silent_p.Q41Q|OCLN_uc021xzq.1_Intron|OCLN_uc021xzr.1_Non-coding_Transcript|OCLN_uc021xzs.1_5'UTR|OCLN_uc021xzt.1_Intron	NM_002538	NP_001192184	Q16625	OCLN_HUMAN	Homo sapiens occludin (OCLN), transcript variant 1, mRNA.	41					cellular component disassembly involved in apoptosis|protein complex assembly	integral to membrane|tight junction	protein binding|structural molecule activity			endometrium(2)|large_intestine(1)|liver(1)|prostate(1)|skin(1)	6		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		TGCTCTCTCAGCCAGCCTACT	0.408000														72			37		0	0	1	0	0
BBS7	55212	broad.mit.edu	37	4	122754537	122754537	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:122754537G>T	uc003ied.3	-	14	1709	c.1525C>A	c.(1525-1527)Ctg>Atg	p.L509M	BBS7_uc003iee.2_Missense_Mutation_p.L509M	NM_176824	NP_789794	Q8IWZ6	BBS7_HUMAN	Homo sapiens Bardet-Biedl syndrome 7 (BBS7), transcript variant 1, mRNA.	509					cilium morphogenesis|digestive tract morphogenesis|fat cell differentiation|heart looping|melanosome transport|pigment granule aggregation in cell center|response to stimulus|visual perception	BBSome|centrosome|cilium membrane	protein binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						GTTAGGGTCAGTGTATTCATG	0.398000									Bardet-Biedl syndrome					58			8		0.00448238	0.0046769	1	1	0
BSN	8927	broad.mit.edu	37	3	49689793	49689793	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49689793A>C	uc003cxe.4	+	4	2918	c.2804A>C	c.(2803-2805)gAg>gCg	p.E935A		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.	935					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		AAGACCATTGAGCTCAACAGC	0.622000														35			16		0	0	1	0	0
LAMA2	3908	broad.mit.edu	37	6	129724975	129724975	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:129724975T>C	uc021zfb.1	+	39	5841	c.5736T>C	c.(5734-5736)gaT>gaC	p.D1912D	LAMA2_uc003qbn.3_Silent_p.D1912D|LAMA2_uc003qbo.3_Silent_p.D1912D	NM_000426	NP_000417	P24043	LAMA2_HUMAN	Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA.	1912	Domain II and I.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GAATCCTTGATGAGGCTAAAA	0.398000														50			24		0	0	1	0	0
CACNG1	786	broad.mit.edu	37	17	65050168	65050168	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:65050168G>A	uc002jfu.3	+	1	411	c.286G>A	c.(286-288)Gaa>Aaa	p.E96K		NM_000727	NP_000718	Q06432	CCG1_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 1 (CACNG1), mRNA.	96					muscle contraction	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(1)|large_intestine(2)|lung(2)|prostate(1)|skin(2)	8	all_cancers(12;1.04e-10)|Breast(2;1.45e-16)|all_epithelial(3;4.81e-12)				Amlodipine(DB00381)|Diltiazem(DB00343)|Ibutilide(DB00308)|Lercanidipine(DB00528)|Magnesium Sulfate(DB00653)|Nimodipine(DB00393)|Nitrendipine(DB01054)|Verapamil(DB00661)	GGAGATCTTCGAATTCACCAC	0.542000														48			32		0	0	1	0	0
CHD4	1108	broad.mit.edu	37	12	6711198	6711198	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:6711198A>G	uc001qpo.3	-	3	530	c.366T>C	c.(364-366)ccT>ccC	p.P122P	CHD4_uc001qpn.3_Silent_p.P115P|CHD4_uc001qpp.3_Silent_p.P119P	NM_001273	NP_001264	Q14839	CHD4_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 4 (CHD4), mRNA.	122					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	NuRD complex|microtubule organizing center	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						TCTCTTTCTTAGGTCCAAGCT	0.517000														34			5		0	0	1	0	0
ELK1	2002	broad.mit.edu	37	X	47497220	47497220	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:47497220G>A	uc004dik.4	-	4	1338	c.1016C>T	c.(1015-1017)tCg>tTg	p.S339L	ELK1_uc010nhv.3_Missense_Mutation_p.S339L|ELK1_uc010nhw.3_Missense_Mutation_p.S229L|ELK1_uc004dil.4_Intron	NM_001114123	NP_005220	P19419	ELK1_HUMAN	Homo sapiens ELK1, member of ETS oncogene family (ELK1), transcript variant 1, mRNA.	339					MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|skin(2)	10						GCCACTTCCCGATCCTGGGGT	0.692000														4			4		0	0	1	0	0
MSANTD2	79684	broad.mit.edu	37	11	124637845	124637845	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:124637845C>A	uc001qba.1	-	3	930	c.907G>T	c.(907-909)Gac>Tac	p.D303Y	MSANTD2_uc001qaz.1_Missense_Mutation_p.D251Y|MSANTD2_uc010sap.1_Missense_Mutation_p.D23Y|MSANTD2_uc001qay.1_Missense_Mutation_p.D73Y	NM_024631	NP_078907	Q6P1R3	CK061_HUMAN	Homo sapiens chromosome 11 open reading frame 61 (C11orf61), mRNA.	303																	CTTGAAAAGTCTGTCCAGCTC	0.388000														97			11		1.08611e-07	1.25606e-07	1	1	0
PIK3R4	30849	broad.mit.edu	37	3	130405075	130405075	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:130405075T>C	uc003enj.3	-	14	4036	c.3455A>G	c.(3454-3456)cAc>cGc	p.H1152R		NM_014602	NP_055417	Q99570	PI3R4_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 4 (PIK3R4), mRNA.	1152					fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						CCAGCATTGGTGGATGTCCAC	0.458000														28			20		0	0	1	0	0
MMRN1	22915	broad.mit.edu	37	4	90833185	90833185	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:90833185G>A	uc003hst.3	+	2	905	c.834G>A	c.(832-834)ccG>ccA	p.P278P	MMRN1_uc010iku.3_Silent_p.P244P|MMRN1_uc011cds.2_Silent_p.P20P	NM_007351	NP_031377	Q13201	MMRN1_HUMAN	Homo sapiens multimerin 1 (MMRN1), mRNA.	278	EMI.				cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		ACAGTGGGCCGAAATGTCAAC	0.363000														27			14		0	0	1	0	0
CRNKL1	51340	broad.mit.edu	37	20	20023022	20023022	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:20023022G>A	uc002wrs.3	-	8	1626	c.1594C>T	c.(1594-1596)Cgc>Tgc	p.R532C		NM_016652	NP_057736	Q9BZJ0	CRNL1_HUMAN	Homo sapiens crooked neck pre-mRNA splicing factor-like 1 (Drosophila) (CRNKL1), mRNA.	532					spliceosome assembly	catalytic step 2 spliceosome|cytoplasm|nuclear speck	RNA binding			breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						TAAATGTAGCGCTTCCAGTGC	0.453000														65			44		0	0	1	0	0
AVIL	10677	broad.mit.edu	37	12	58201119	58201119	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:58201119A>G	uc001sqj.2	-	11	1515	c.1486T>C	c.(1486-1488)Ttt>Ctt	p.F496L	AVIL_uc009zqe.2_Missense_Mutation_p.F489L|AVIL_uc001sqk.1_Missense_Mutation_p.F74L|AVIL_uc001sql.4_Missense_Mutation_p.F473L	NM_006576	NP_006567	O75366	AVIL_HUMAN	Homo sapiens advillin (AVIL), mRNA.	496	Core (By similarity).				actin filament capping|cilium morphogenesis|cytoskeleton organization|positive regulation of neuron projection development	actin cytoskeleton|axon|cytoplasm	actin binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					CTCACCTCAAAGATAACTAGC	0.517000														101			13		0	0	1	0	0
BRWD1	54014	broad.mit.edu	37	21	40568686	40568686	+	Silent	SNP	G	T	T	rs143446666		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:40568686G>T	uc002yxk.2	-	40	6604	c.6309C>A	c.(6307-6309)acC>acA	p.T2103T	BRWD1_uc010goc.1_Silent_p.T746T|BRWD1_uc021wjf.1_Silent_p.T2103T	NM_018963	NP_061836	Q9NSI6	BRWD1_HUMAN	Homo sapiens bromodomain and WD repeat domain containing 1 (BRWD1), transcript variant 1, mRNA.	2103					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				CCTTTCCATAGGTCCTGAGTC	0.423000														205			14		1.05317e-09	1.25904e-09	1	1	0
PCDHB7	56129	broad.mit.edu	37	5	140552833	140552833	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140552833C>A	uc003lit.3	+	0	591	c.417C>A	c.(415-417)tcC>tcA	p.S139S		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	Homo sapiens protocadherin beta 7 (PCDHB7), mRNA.	139	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAGAGATTTCCTTGAAAATAT	0.428000														44			32		6.97489e-18	8.91555e-18	1	1	0
PHACTR3	116154	broad.mit.edu	37	20	58342331	58342331	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:58342331C>T	uc002yau.3	+	4	1099	c.632C>T	c.(631-633)gCt>gTt	p.A211V	PHACTR3_uc002yat.3_Missense_Mutation_p.A208V|PHACTR3_uc010zzw.2_Missense_Mutation_p.A170V|PHACTR3_uc002yav.3_Missense_Mutation_p.A170V|PHACTR3_uc002yaw.3_Missense_Mutation_p.A170V|PHACTR3_uc002yax.3_Intron	NM_080672	NP_899067	Q96KR7	PHAR3_HUMAN	Homo sapiens phosphatase and actin regulator 3 (PHACTR3), transcript variant 1, mRNA.	211						nuclear matrix	actin binding|protein phosphatase inhibitor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			TTAGCTGGGGCTGACTCCCTG	0.622000														42			7		0	0	1	0	0
NFE2L3	9603	broad.mit.edu	37	7	26224454	26224454	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:26224454A>G	uc003sxq.3	+	3	1408	c.1136A>G	c.(1135-1137)gAc>gGc	p.D379G		NM_004289	NP_004280	Q9Y4A8	NF2L3_HUMAN	Homo sapiens nuclear factor (erythroid-derived 2)-like 3 (NFE2L3), mRNA.	379					transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						ACAAGCCAAGACCTACTGTAT	0.373000														161			13		0	0	1	0	0
ZNF44	51710	broad.mit.edu	37	19	12383465	12383465	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:12383465C>T	uc010xmj.2	-	4	1954	c.1749G>A	c.(1747-1749)aaG>aaA	p.K583K	ZNF44_uc002mtl.3_Intron|ZNF44_uc010xmi.2_Non-coding_Transcript|ZNF44_uc002mtn.4_Non-coding_Transcript|ZNF44_uc010dys.3_Silent_p.K535K	NM_001164276	NP_001157748	P15621	ZNF44_HUMAN	Homo sapiens zinc finger protein 44 (ZNF44), transcript variant 1, mRNA.	583					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)	1		Renal(1328;0.157)		GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179)		TCCTGCATTGCTTACATTCAT	0.408000														7			6		0	0	1	0	0
DCTN3	11258	broad.mit.edu	37	9	34617963	34617963	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:34617963C>A	uc003zux.1	-	2	222	c.187G>T	c.(187-189)Gat>Tat	p.D63Y	DCTN3_uc003zuw.1_Missense_Mutation_p.D63Y	NM_007234	NP_009165	O75935	DCTN3_HUMAN	Homo sapiens dynactin 3 (p22) (DCTN3), transcript variant 1, mRNA.	63					G2/M transition of mitotic cell cycle|cytokinesis|mitosis	centrosome|cleavage furrow|condensed chromosome kinetochore|cytosol|dynactin complex|midbody|perinuclear region of cytoplasm|spindle	protein binding|structural molecule activity			large_intestine(1)|skin(1)	2	all_epithelial(49;0.0863)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.0388)		TTGATCAGATCTTCAACTAGA	0.463000														22			11		1.08611e-07	1.25606e-07	1	1	0
MOCS1	4337	broad.mit.edu	37	6	39895295	39895295	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:39895295C>T	uc003opb.3	-	0	161	c.23G>A	c.(22-24)cGc>cAc	p.R8H	MOCS1_uc003opa.3_Missense_Mutation_p.R8H|MOCS1_uc003opd.3_Intron|MOCS1_uc003ope.3_Intron	NM_005943	NP_005934	Q9NZB8	MOCS1_HUMAN	Homo sapiens molybdenum cofactor synthesis 1 (MOCS1), transcript variant 1, mRNA.	0	Molybdenum cofactor biosynthesis protein A.				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex|nucleus	4 iron, 4 sulfur cluster binding|GTP binding|catalytic activity|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	21	Ovarian(28;0.0355)|Colorectal(47;0.196)					GACATCTGTGCGGAGCTTCCA	0.592000														9			4		0	0	1	0	0
ATP2A2	488	broad.mit.edu	37	12	110783173	110783173	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:110783173T>C	uc001tqk.4	+	17	3290	c.2727T>C	c.(2725-2727)tgT>tgC	p.C909C	ATP2A2_uc001tql.4_Silent_p.C909C|ATP2A2_uc021rdt.1_Silent_p.C757C|ATP2A2_uc001tqn.4_5'Flank|ATP2A2_uc009zvn.3_5'Flank	NM_170665	NP_733765	P16615	AT2A2_HUMAN	Homo sapiens ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 (ATP2A2), transcript variant b, mRNA.	909					ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|S100 alpha binding|calcium-transporting ATPase activity|protein C-terminus binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						TAGAAATGTGTAACGCCCTCA	0.517000														92			9		0	0	1	0	0
KDM3B	51780	broad.mit.edu	37	5	137721960	137721960	+	Missense_Mutation	SNP	T	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:137721960T>A	uc003lcy.1	+	6	1230	c.1030T>A	c.(1030-1032)Tct>Act	p.S344T	KDM3B_uc010jew.1_Intron|KDM3B_uc011cys.1_5'Flank	NM_016604	NP_057688	Q7LBC6	KDM3B_HUMAN	Homo sapiens lysine (K)-specific demethylase 3B (KDM3B), mRNA.	344					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						GCAGCCACCGTCTACATTTGT	0.572000														160			19		0	0	1	0	0
DMXL1	1657	broad.mit.edu	37	5	118503347	118503347	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:118503347G>A	uc010jcl.1	+	22	5367	c.5186G>A	c.(5185-5187)aGa>aAa	p.R1729K	DMXL1_uc003ksd.2_Missense_Mutation_p.R1729K|DMXL1_uc021ycw.1_Missense_Mutation_p.R1556K	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN	Homo sapiens Dmx-like 1 (DMXL1), mRNA.	1729										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		GTAATAGCAAGACTCTATGAG	0.318000														21			9		0	0	1	0	0
RIPK4	54101	broad.mit.edu	37	21	43161219	43161219	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:43161219C>T	uc002yzn.1	-	7	2182	c.2134G>A	c.(2134-2136)Gcc>Acc	p.A712T		NM_020639	NP_065690	Q96T11	Q96T11_HUMAN	Homo sapiens receptor-interacting serine-threonine kinase 4 (RIPK4), mRNA.	712						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TGCCCGTGGGCGGCAGCCAGG	0.687000														77			41		0	0	1	0	0
CHSY3	337876	broad.mit.edu	37	5	129241270	129241270	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:129241270T>C	uc003kvd.3	+	0	748	c.748T>C	c.(748-750)Tac>Cac	p.Y250H		NM_175856	NP_787052	Q70JA7	CHSS3_HUMAN	Homo sapiens chondroitin sulfate synthase 3 (CHSY3), mRNA.	250						Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		GCACGACCACTACCTGGACAA	0.592000														106			8		0	0	1	0	0
CCDC132	55610	broad.mit.edu	37	7	92938235	92938235	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:92938235G>A	uc003umo.3	+	18	1857	c.1729G>A	c.(1729-1731)Gga>Aga	p.G577R	CCDC132_uc003ump.3_Missense_Mutation_p.G547R|CCDC132_uc003umr.3_Non-coding_Transcript|CCDC132_uc011khz.2_Missense_Mutation_p.G297R	NM_017667	NP_060137	Q96JG6	CC132_HUMAN	Homo sapiens coiled-coil domain containing 132 (CCDC132), transcript variant 1, mRNA.	577										endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			TGAGCAGACAGGAGATGGTCC	0.378000														39			53		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179587193	179587193	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179587193G>A	uc021vsy.1	-	73	18814	c.18589C>T	c.(18589-18591)Cga>Tga	p.R6197*	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Nonsense_Mutation_p.R2858*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	7124	Ig-like 43.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R6197*(1)		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)			CCATTTAATCGACAAGTGAGT	0.418000														59			25		0	0	1	0	0
PASK	23178	broad.mit.edu	37	2	242046007	242046007	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:242046007C>T	uc002wao.2	-	17	4079	c.3946G>A	c.(3946-3948)Ggg>Agg	p.G1316R	PASK_uc010zol.2_Missense_Mutation_p.G1130R|PASK_uc010zom.2_Missense_Mutation_p.G1281R|PASK_uc010fzl.2_Missense_Mutation_p.G1323R|PASK_uc010zon.2_Missense_Mutation_p.G1097R|PASK_uc021vzf.1_Missense_Mutation_p.G1316R	NM_015148	NP_055963	Q96RG2	PASK_HUMAN	Homo sapiens PAS domain containing serine/threonine kinase (PASK), transcript variant 2, mRNA.	1316					regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		CGGGGATCCCCGGGATGCAAA	0.552000														98			52		0	0	1	0	0
EFEMP1	2202	broad.mit.edu	37	2	56144875	56144875	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:56144875G>A	uc002rzi.3	-	4	943	c.442C>T	c.(442-444)Cgc>Tgc	p.R148C	EFEMP1_uc002rzj.3_Missense_Mutation_p.R148C|EFEMP1_uc010ypc.2_Missense_Mutation_p.R90C	NM_001039348	NP_001034438	Q12805	FBLN3_HUMAN	Homo sapiens EGF containing fibulin-like extracellular matrix protein 1 (EFEMP1), transcript variant 2, mRNA.	148					negative regulation of chondrocyte differentiation|peptidyl-tyrosine phosphorylation|regulation of transcription, DNA-dependent|visual perception	extracellular space|proteinaceous extracellular matrix	calcium ion binding|epidermal growth factor receptor activity|epidermal growth factor receptor binding|growth factor activity			NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			GAGGGAATGCGCTGAGGGTCA	0.552000														54			38		0	0	1	0	0
PIP5K1A	8394	broad.mit.edu	37	1	151196880	151196880	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:151196880T>C	uc001exj.3	+	2	606	c.154T>C	c.(154-156)Ttg>Ctg	p.L52L	PIP5K1A_uc021oyo.1_Intron|PIP5K1A_uc001exi.3_Intron|PIP5K1A_uc010pcu.2_Intron|PIP5K1A_uc001exk.3_Intron	NM_001135638	NP_001129110	Q99755	PI51A_HUMAN	Homo sapiens phosphatidylinositol-4-phosphate 5-kinase, type I, alpha (PIP5K1A), transcript variant 1, mRNA.	52					phospholipid biosynthetic process|signal transduction	Golgi stack|endomembrane system|lamellipodium|nuclear speck	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|kinase binding			breast(1)|central_nervous_system(1)|ovary(1)|skin(1)|stomach(1)	5	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.181)			TTACATCTCATTGGTAGGCTA	0.289000														168			22		0	0	1	0	0
WDR81	124997	broad.mit.edu	37	17	1640869	1640869	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:1640869A>G	uc002ftj.2	+	9	5845	c.5716A>G	c.(5716-5718)Aag>Gag	p.K1906E	WDR81_uc002fth.2_Missense_Mutation_p.K855E|WDR81_uc010vqp.1_Missense_Mutation_p.K703E|WDR81_uc002fti.2_Missense_Mutation_p.K679E|WDR81_uc010vqq.1_Missense_Mutation_p.K537E	NM_001163809	NP_001157281	B3KXU1	B3KXU1_HUMAN	Homo sapiens WD repeat domain 81 (WDR81), transcript variant 1, mRNA.	679										cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GGCCACCACGAAGCTCAGCTC	0.627000														29			3		0	0	1	0	0
MAPK8IP3	23162	broad.mit.edu	37	16	1812999	1812999	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:1812999C>A	uc010uvl.2	+	15	2010	c.1890C>A	c.(1888-1890)ttC>ttA	p.F630L	MAPK8IP3_uc002cmk.3_Missense_Mutation_p.F629L|MAPK8IP3_uc002cml.3_Missense_Mutation_p.F619L|MAPK8IP3_uc021tah.1_Missense_Mutation_p.F623L	NM_015133	NP_055948	Q9UPT6	JIP3_HUMAN	Homo sapiens mitogen-activated protein kinase 8 interacting protein 3 (MAPK8IP3), transcript variant 1, mRNA.	629					vesicle-mediated transport	Golgi membrane	MAP-kinase scaffold activity|kinesin binding|protein kinase binding			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						TGGAATTCTTCCCTGACGAGT	0.652000														45			5		1	1	1	1	0
FAM63B	54629	broad.mit.edu	37	15	59102556	59102556	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:59102556C>A	uc002afj.3	+	3	1293	c.1091C>A	c.(1090-1092)cCt>cAt	p.P364H	FAM63B_uc002afi.3_Missense_Mutation_p.P364H|FAM63B_uc002afk.3_Intron|FAM63B_uc002afl.3_Non-coding_Transcript	NM_001040450	NP_001035540	Q8NBR6	FA63B_HUMAN	Homo sapiens family with sequence similarity 63, member B (FAM63B), transcript variant 1, mRNA.	364										central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						CTTGATATTCCTTTGTACCAT	0.343000														47			6		0.0215528	0.0220531	1	1	0
C14orf159	80017	broad.mit.edu	37	14	91655379	91655379	+	Nonsense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:91655379G>T	uc001xyw.2	+	8	1412	c.1060G>T	c.(1060-1062)Gaa>Taa	p.E354*	C14orf159_uc010atv.1_Non-coding_Transcript|C14orf159_uc001xyy.2_Nonsense_Mutation_p.E354*|C14orf159_uc001xyz.2_Nonsense_Mutation_p.E225*|C14orf159_uc001xzb.2_Nonsense_Mutation_p.E349*|C14orf159_uc001xyx.2_Nonsense_Mutation_p.E337*|C14orf159_uc001xzc.2_Nonsense_Mutation_p.E349*|C14orf159_uc001xza.2_Nonsense_Mutation_p.E354*|C14orf159_uc001xyv.2_Nonsense_Mutation_p.E354*|C14orf159_uc001xze.2_Nonsense_Mutation_p.E349*	NM_001102368	NP_001095838	Q7Z3D6	CN159_HUMAN	Homo sapiens chromosome 14 open reading frame 159 (C14orf159), transcript variant 4, mRNA.	349						mitochondrion				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0191)|all_epithelial(191;0.241)		Epithelial(152;0.141)|OV - Ovarian serous cystadenocarcinoma(161;0.207)		TGAGCCTCCAGAAGAGACAGA	0.557000														39			6		3.59834e-05	3.95114e-05	1	1	0
MUC1	4582	broad.mit.edu	37	1	155161934	155161934	+	Missense_Mutation	SNP	C	T	T	rs149173724	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155161934C>T	uc021pap.1	-	1	298	c.226G>A	c.(226-228)Ggt>Agt	p.G76S	MUC1_uc001fhz.3_5'Flank|MUC1_uc001fhy.3_5'Flank|MUC1_uc010pfb.2_Intron|MUC1_uc010pfh.2_Intron|MUC1_uc010pff.2_Intron|MUC1_uc010pfi.2_Intron|MUC1_uc010pfj.2_Intron|MUC1_uc010pfk.2_Intron|MUC1_uc010pfl.2_Intron|MUC1_uc010pfc.2_Intron|MUC1_uc009wph.3_Intron|MUC1_uc010pfe.2_Intron|MUC1_uc009wpi.3_Intron|MUC1_uc010pfg.2_Intron|MUC1_uc010pfd.2_Intron|MUC1_uc009wpy.3_Intron|MUC1_uc009wpu.3_Intron|MUC1_uc010pfm.2_Intron|MUC1_uc001fiq.3_Intron|MUC1_uc009wqa.3_Intron|MUC1_uc010pfn.2_Intron|MUC1_uc009wpn.3_Intron|MUC1_uc010pfo.2_Intron|MUC1_uc009wpw.3_Intron|MUC1_uc001fim.3_Intron|MUC1_uc001fil.3_Intron|MUC1_uc010pfp.2_Intron|MUC1_uc001fij.3_Intron|MUC1_uc009wqc.3_Intron|MUC1_uc009wqd.3_Intron|MUC1_uc001fia.3_Intron|MUC1_uc009wqb.3_Intron|MUC1_uc009wpx.3_Intron|MUC1_uc010pfq.2_Intron|MUC1_uc001fid.3_Intron|MUC1_uc001fit.3_Intron|MUC1_uc009wpz.3_Intron|MUC1_uc001fii.3_Intron|MUC1_uc001fik.3_Intron|MUC1_uc009wpo.3_Intron|MUC1_uc010pfr.2_Intron|MUC1_uc001fih.3_Intron|MUC1_uc001fio.3_Intron|MUC1_uc009wqe.3_Intron|MUC1_uc009wpl.3_Intron|MUC1_uc009wpp.3_Intron|MUC1_uc009wpm.3_Intron|MUC1_uc009wpk.3_Intron|MUC1_uc010pfs.2_Intron|MUC1_uc001fip.3_Intron|MUC1_uc021paq.1_Missense_Mutation_p.G67S|MUC1_uc009wqg.3_Intron|MUC1_uc009wqf.3_Intron|MUC1_uc001fic.3_Intron|MUC1_uc009wps.3_Intron|MUC1_uc001fie.3_Intron|MUC1_uc009wpt.3_Intron|MUC1_uc009wpq.3_Intron|MUC1_uc009wpr.3_Intron|MUC1_uc001fig.3_Intron|MUC1_uc001fif.3_Intron|MUC1_uc001fin.3_Intron|MUC1_uc009wpj.3_Intron|MUC1_uc009wpv.3_Intron|MUC1_uc001fib.3_Intron|MUC1_uc001fis.2_Intron|MUC1_uc001fiv.2_Missense_Mutation_p.G76S|MUC1_uc001fiw.2_Missense_Mutation_p.G67S|DM075093_uc021par.1_5'Flank	NM_001204286	NP_001191215	P15941	MUC1_HUMAN	Homo sapiens mucin 1, cell surface associated (MUC1), transcript variant 10, mRNA.	849						apical plasma membrane|cell surface|cytoplasm|extracellular region|integral to plasma membrane|nucleus	protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|skin(2)	10	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;5.31e-10)|all cancers(21;2.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GAGCCTGAACCGGGGCTGTGG	0.587000			T	IGH@	B-NHL									73			54		0	0	1	0	0
AMPD1	270	broad.mit.edu	37	1	115222982	115222982	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:115222982G>A	uc001efe.2	-	5	812	c.764C>T	c.(763-765)gCa>gTa	p.A255V	AMPD1_uc001eff.2_Missense_Mutation_p.A251V	NM_000036	NP_000027	P23109	AMPD1_HUMAN	Homo sapiens adenosine monophosphate deaminase 1 (AMPD1), transcript variant 1, mRNA.	222					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding	p.P255S(1)		NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	GCTGACTGCTGCTTCATTAGG	0.443000														159			18		0	0	1	0	0
FOXP2	93986	broad.mit.edu	37	7	114304486	114304486	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:114304486G>A	uc003vhb.3	+	15	2372	c.1998G>A	c.(1996-1998)ccG>ccA	p.P666P	FOXP2_uc003vgu.3_Non-coding_Transcript|FOXP2_uc003vgz.3_Silent_p.P691P|FOXP2_uc003vha.3_Silent_p.P574P|FOXP2_uc011kmv.2_Silent_p.P665P|FOXP2_uc011kmu.2_Silent_p.P683P|FOXP2_uc010ljz.2_Silent_p.P481P	NM_014491	NP_055306	O15409	FOXP2_HUMAN	Homo sapiens forkhead box P2 (FOXP2), transcript variant 1, mRNA.	666					camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	DNA bending activity|chromatin binding|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA 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|zinc ion binding			breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						CACCTCAGCCGCACATGTAAG	0.428000														43			14		0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62299568	62299568	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:62299568G>A	uc001ntl.3	-	4	2621	c.2321C>T	c.(2320-2322)cCc>cTc	p.P774L	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	774					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				ATCAGCCTTGGGCAGGTTCAC	0.507000														128			59		0	0	1	0	0
SZT2	23334	broad.mit.edu	37	1	43906238	43906238	+	Missense_Mutation	SNP	G	A	A	rs146294336		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:43906238G>A	uc001cjk.2	+	50	7238	c.4628G>A	c.(4627-4629)cGt>cAt	p.R1543H		NM_015284	NP_056099	Q5T011	SZT2_HUMAN	Homo sapiens seizure threshold 2 homolog (mouse) (SZT2), mRNA.	2442						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						GCGGGCCGGCGTAGCTTCTGG	0.597000														39			26		0	0	1	0	0
STC2	8614	broad.mit.edu	37	5	172752930	172752930	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:172752930G>T	uc003mco.1	-	1	1545	c.235C>A	c.(235-237)Cgg>Agg	p.R79R	STC2_uc003mcn.1_5'UTR	NM_003714	NP_003705	O76061	STC2_HUMAN	Homo sapiens stanniocalcin 2 (STC2), mRNA.	79					cell surface receptor linked signaling pathway|cell-cell signaling	extracellular region	hormone activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(3)	25	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.223)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			TGTAAGCCCCGAATCTCACAA	0.468000														182			116		7.80449e-65	1.04126e-64	1	1	0
FES	2242	broad.mit.edu	37	15	91436526	91436526	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:91436526G>A	uc002bpv.3	+	15	2046	c.1927G>A	c.(1927-1929)Gac>Aac	p.D643N	FES_uc010uqj.2_Missense_Mutation_p.D515N|FES_uc010uqk.2_Missense_Mutation_p.D625N|FES_uc002bpx.3_Missense_Mutation_p.D573N|FES_uc002bpy.3_Missense_Mutation_p.D585N|FES_uc010bny.3_Missense_Mutation_p.D502N	NM_002005	NP_001996	P07332	FES_HUMAN	Homo sapiens feline sarcoma oncogene (FES), transcript variant 1, mRNA.	643	Protein kinase.				axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(2)|ovary(1)	3	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			TGCAGGGGGCGACTTCCTGAC	0.687000														8			6		0	0	1	0	0
LPAR3	23566	broad.mit.edu	37	1	85331180	85331180	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:85331180C>T	uc001dkl.2	-	0	663	c.624G>A	c.(622-624)cgG>cgA	p.R208R	LPAR3_uc009wcj.1_Silent_p.R208R	NM_012152	NP_036284	Q9UBY5	LPAR3_HUMAN	Homo sapiens lysophosphatidic acid receptor 3 (LPAR3), mRNA.	208					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane|intracellular membrane-bounded organelle				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1)	24						ACACGTAGATCCGCAGGTACA	0.532000														49			18		0	0	1	0	0
PMS2	5395	broad.mit.edu	37	7	6043351	6043351	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:6043351C>T	uc003spl.3	-	3	410	c.323G>A	c.(322-324)gGg>gAg	p.G108E	PMS2_uc003spj.3_Intron|PMS2_uc003spk.3_5'UTR|PMS2_uc011jwl.2_5'UTR|PMS2_uc010ktg.3_5'UTR|PMS2_uc010kte.3_Missense_Mutation_p.G108E|PMS2_uc010ktf.2_Missense_Mutation_p.G108E	NM_000535	NP_000526	P54278	PMS2_HUMAN	Homo sapiens PMS2 postmeiotic segregation increased 2 (S. cerevisiae) (PMS2), transcript variant 1, mRNA.	108					mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		CAGAGCTTCCCCCCGAAAGCC	0.403000			"""Mis, N, F"""			"""colorectal, endometrial, ovarian, medulloblastoma, glioma"""		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome					44			17		0	0	1	0	0
TCF25	22980	broad.mit.edu	37	16	89960234	89960234	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:89960234G>A	uc002fpb.2	+	6	878	c.796G>A	c.(796-798)Gcc>Acc	p.A266T	TCF25_uc002fpc.2_Missense_Mutation_p.A31T	NM_014972	NP_055787	Q9BQ70	TCF25_HUMAN	Homo sapiens transcription factor 25 (basic helix-loop-helix) (TCF25), mRNA.	266					heart development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|ovary(3)|skin(1)|urinary_tract(2)	18		all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027)		BRCA - Breast invasive adenocarcinoma(80;0.0288)		GTTCCTGGTGGCCGTGGAGTC	0.602000														9			7		0	0	1	0	0
SPIRE2	84501	broad.mit.edu	37	16	89936622	89936622	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:89936622G>A	uc002foz.1	+	14	2139	c.2087G>A	c.(2086-2088)cGc>cAc	p.R696H	SPIRE2_uc010ciw.1_Missense_Mutation_p.R648H|SPIRE2_uc002fpa.1_Missense_Mutation_p.R648H|SPIRE2_uc010cix.1_Missense_Mutation_p.R563H	NM_032451	NP_115827	Q8WWL2	SPIR2_HUMAN	Homo sapiens spire homolog 2 (Drosophila) (SPIRE2), mRNA.	696					transport	cytoplasm|cytoskeleton	actin binding	p.R696C(1)|p.R695Q(1)		central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0286)		ACGCCACGACGCAGTCGCCAG	0.607000														7			4		0	0	1	0	0
ABCB1	5243	broad.mit.edu	37	7	87180053	87180053	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:87180053C>A	uc003uiz.2	-	10	1594	c.1101G>T	c.(1099-1101)aaG>aaT	p.K367N	ABCB1_uc011khc.2_Missense_Mutation_p.K303N	NM_000927	NP_000918	P08183	MDR1_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 1 (ABCB1), mRNA.	367					G2/M transition of mitotic cell cycle|stem cell proliferation	Golgi membrane|apical plasma membrane|cell surface|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	TATCAATTATCTTGAAGATTT	0.368000														36			35		3.86903e-22	5.0217e-22	1	1	0
PALM2-AKAP2	445815	broad.mit.edu	37	9	112899576	112899576	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:112899576G>A	uc004bei.2	+	8	2640	c.2448G>A	c.(2446-2448)aaG>aaA	p.K816K	PALM2-AKAP2_uc004bej.4_Silent_p.K584K|PALM2-AKAP2_uc004bek.4_Silent_p.K584K|PALM2-AKAP2_uc004bel.1_Silent_p.K394K|PALM2-AKAP2_uc011lwi.2_Silent_p.K442K|PALM2-AKAP2_uc004bem.3_Silent_p.K442K|PALM2-AKAP2_uc010mtw.1_Silent_p.K402K|PALM2-AKAP2_uc011lwj.2_Silent_p.K353K|PALM2-AKAP2_uc004ben.3_Silent_p.K353K	NM_001136562	NP_001130034	Q9Y2D5	AKAP2_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 2 (AKAP2), transcript variant 2, mRNA.	353							enzyme binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						TCTCCATCAAGCCTTTCTACA	0.542000														31			16		0	0	1	0	0
ZNF833P	401898	broad.mit.edu	37	19	11762659	11762659	+	RNA	SNP	A	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:11762659A>T	uc002msl.4	+	5		c.671A>T								Homo sapiens zinc finger protein 833, pseudogene (ZNF833P), non-coding RNA.											endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	5						ACTGGACACAAACCGTATGAG	0.458000														23			8		0	0	1	0	0
LRCH1	23143	broad.mit.edu	37	13	47262041	47262041	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:47262041C>T	uc001vbk.3	+	5	1113	c.877C>T	c.(877-879)Cag>Tag	p.Q293*	LRCH1_uc010acp.2_Nonsense_Mutation_p.Q293*|LRCH1_uc001vbj.3_Nonsense_Mutation_p.Q293*|LRCH1_uc001vbl.4_Nonsense_Mutation_p.Q293*	NM_001164211	NP_001157683	Q9Y2L9	LRCH1_HUMAN	Homo sapiens leucine-rich repeats and calponin homology (CH) domain containing 1 (LRCH1), transcript variant 1, mRNA.	293										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)		ACAAGCATGCCAGATTAAGAC	0.408000														40			12		0	0	1	0	0
SATB1	6304	broad.mit.edu	37	3	18457582	18457582	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:18457582G>A	uc003cbh.3	-	3	2167	c.432C>T	c.(430-432)taC>taT	p.Y144Y	SATB1_uc003cbi.3_Silent_p.Y144Y|SATB1_uc003cbj.3_Silent_p.Y144Y	NM_002971	NP_002962	Q01826	SATB1_HUMAN	Homo sapiens SATB homeobox 1 (SATB1), transcript variant 1, mRNA.	144	PDZ-like dimerization domain.				cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	PML body|nuclear matrix	double-stranded DNA binding|sequence-specific DNA binding			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						CATCTGTCACGTAAGACAGTG	0.388000														61			32		0	0	1	0	0
ZFP64	55734	broad.mit.edu	37	20	50769213	50769213	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:50769213G>A	uc002xwl.3	-	5	1867	c.1518C>T	c.(1516-1518)ccC>ccT	p.P506P	ZFP64_uc002xwk.3_Intron|ZFP64_uc002xwm.3_Silent_p.P504P|ZFP64_uc002xwn.3_Silent_p.P452P	NM_018197	NP_060667	Q9NPA5	ZF64A_HUMAN	Homo sapiens zinc finger protein 64 homolog (mouse) (ZFP64), transcript variant 1, mRNA.	506					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						TGTTCGCCTGGGGCACCTGAT	0.652000														17			14		0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181705510	181705510	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:181705510G>A	uc009wxt.3	+	21	3557	c.3362G>A	c.(3361-3363)cGt>cAt	p.R1121H	CACNA1E_uc001gow.3_Missense_Mutation_p.R1121H|CACNA1E_uc009wxs.3_Missense_Mutation_p.R1102H|CACNA1E_uc001gox.1_Missense_Mutation_p.R347H	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	1121					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						aaggagaagCGTGAGACAGGC	0.547000														13			3		0	0	1	0	0
OR4M1	441670	broad.mit.edu	37	14	20249132	20249132	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:20249132C>A	uc010tku.2	+	0	651	c.651C>A	c.(649-651)tcC>tcA	p.S217S		NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily M, member 1 (OR4M1), mRNA.	217					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TGTTAATGTCCTATGCCTTCC	0.488000														246			14		1.5842e-08	1.86177e-08	1	1	0
STK31	56164	broad.mit.edu	37	7	23810623	23810623	+	Splice_Site	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:23810623G>T	uc003sws.4	+	14	1781	c.1714_splice	c.e14-1	p.D572_splice	STK31_uc003swt.4_Splice_Site_p.D549_splice|STK31_uc011jze.2_Splice_Site_p.D572_splice|STK31_uc010kuq.3_Splice_Site_p.D549_splice	NM_031414	NP_116562	Q9BXU1	STK31_HUMAN	Homo sapiens serine/threonine kinase 31 (STK31), transcript variant 1, mRNA.	572							ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						ATTTCATTTAGGATCAAGGTG	0.343000														131			15		3.52763e-06	3.96648e-06	1	1	0
HTR1A	3350	broad.mit.edu	37	5	63256975	63256975	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:63256975T>G	uc011cqt.2	-	0	572	c.572A>C	c.(571-573)aAg>aCg	p.K191T		NM_000524	NP_000515	P08908	5HT1A_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1A (HTR1A), mRNA.	191					behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	GCCATGATCCTTGCTAATGGT	0.572000														196			14		0	0	1	0	0
ACACB	32	broad.mit.edu	37	12	109577714	109577714	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:109577714C>A	uc001tob.3	+	1	623	c.504C>A	c.(502-504)ggC>ggA	p.G168G	ACACB_uc001toc.3_Silent_p.G168G	NM_001093	NP_001084	O00763	ACACB_HUMAN	Homo sapiens acetyl-CoA carboxylase beta (ACACB), mRNA.	168					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	Golgi apparatus|cytosol|endomembrane system|membrane	ATP binding|acetyl-CoA carboxylase activity|biotin carboxylase activity|metal ion binding|protein binding	p.L167>?(1)		NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	TCATCCTGGGCTCTTTTGATG	0.607000														61			29		1.80694e-10	2.18278e-10	1	1	0
OR4D11	219986	broad.mit.edu	37	11	59271671	59271671	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:59271671C>T	uc001noa.1	+	0	623	c.623C>T	c.(622-624)aCc>aTc	p.T208I		NM_001004706	NP_001004706	Q8NGI4	OR4DB_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 11 (OR4D11), mRNA.	208					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						CTGGTCACTACCCTGTGGTTT	0.512000														86			45		0	0	1	0	0
RBBP7	5931	broad.mit.edu	37	X	16863952	16863952	+	Splice_Site	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:16863952A>G	uc004cxt.3	-	11	1567	c.1209_splice	c.e11+1	p.M403_splice	RBBP7_uc004cxs.2_Splice_Site_p.M447_splice	NM_002893	NP_002884	Q16576	RBBP7_HUMAN	Homo sapiens retinoblastoma binding protein 7 (RBBP7), transcript variant 2, mRNA.	403					CenH3-containing nucleosome assembly at centromere|DNA replication|cell proliferation|cellular heat acclimation|multicellular organismal development|negative regulation of cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex|NuRD complex	protein binding			biliary_tract(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	25	Hepatocellular(33;0.0997)					TTAACTCACCATTTGCCATAT	0.363000														51			5		0	0	1	0	0
TIPARP	25976	broad.mit.edu	37	3	156422529	156422529	+	Missense_Mutation	SNP	G	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:156422529G>C	uc003fav.3	+	5	2005	c.1583G>C	c.(1582-1584)aGa>aCa	p.R528T	TIPARP_uc003faw.3_Missense_Mutation_p.R528T|TIPARP_uc021xgg.1_Missense_Mutation_p.R528T	NM_015508	NP_056323	Q7Z3E1	PARPT_HUMAN	Homo sapiens TCDD-inducible poly(ADP-ribose) polymerase (TIPARP), transcript variant 2, mRNA.	528	PARP catalytic.						NAD+ ADP-ribosyltransferase activity|nucleic acid binding|protein binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			ATAAATGAGAGACATTTATTT	0.388000														123			12		0	0	1	0	0
ACACA	31	broad.mit.edu	37	17	35512704	35512704	+	Splice_Site	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:35512704T>C	uc002hnm.3	-	43	5430	c.5239_splice	c.e43-1	p.G1747_splice	ACACA_uc002hnk.3_Splice_Site_p.G1669_splice|ACACA_uc002hnl.3_Splice_Site_p.G1689_splice|ACACA_uc002hnn.3_Splice_Site_p.G1747_splice|ACACA_uc002hno.3_Splice_Site_p.G1784_splice|ACACA_uc010cuy.3_Splice_Site_p.G392_splice|ACACA_uc010wdc.2_Splice_Site	NM_198836	NP_942135	Q13085	ACACA_HUMAN	Homo sapiens acetyl-CoA carboxylase alpha (ACACA), transcript variant 3, mRNA.	1747	Carboxyltransferase.				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	ATP binding|acetyl-CoA carboxylase activity|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	CCTGTATCCCTGTGAAGCACA	0.378000														89			7		0	0	1	0	0
MSANTD1	345222	broad.mit.edu	37	4	3255043	3255043	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:3255043C>T	uc003ggs.3	+	1	613	c.430C>T	c.(430-432)Ccg>Tcg	p.P144S		NM_001042690	NP_001036155	Q6ZTZ1	CD044_HUMAN	Homo sapiens chromosome 4 open reading frame 44 (C4orf44), mRNA.	144								p.P144Q(1)		endometrium(1)|lung(2)	3						TGGCAAACTGCCGGACAGCCA	0.637000														61			29		0	0	1	0	0
CDH3	1001	broad.mit.edu	37	16	68725634	68725634	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:68725634G>A	uc002ewf.2	+	12	2939	c.1807G>A	c.(1807-1809)Gtc>Atc	p.V603I	CDH3_uc010vli.1_Missense_Mutation_p.V548I	NM_001793	NP_001784	P22223	CADH3_HUMAN	Homo sapiens cadherin 3, type 1, P-cadherin (placental) (CDH3), mRNA.	603	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception	integral to membrane	calcium ion binding	p.?(2)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		TGACACAGTGGTCTTGTCCCT	0.498000														37			30		0	0	1	0	0
TM2D3	80213	broad.mit.edu	37	15	102186949	102186949	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:102186949G>A	uc002bxi.3	-	3	511	c.481C>T	c.(481-483)Cgg>Tgg	p.R161W	TM2D3_uc010usg.1_Missense_Mutation_p.R135W|TM2D3_uc002bxh.3_Missense_Mutation_p.R96W|TM2D3_uc002bxj.3_Missense_Mutation_p.R135W|TM2D3_uc010ush.1_Missense_Mutation_p.R161W	NM_078474	NP_510883	Q9BRN9	TM2D3_HUMAN	Homo sapiens TM2 domain containing 3 (TM2D3), transcript variant 1, mRNA.	161						integral to membrane		p.R161Q(1)		central_nervous_system(1)|endometrium(2)|lung(6)|ovary(1)	10	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			ACGTGGTCCCGCACCGTGCAG	0.502000														37			21		0	0	1	0	0
SNUPN	10073	broad.mit.edu	37	15	75890978	75890978	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:75890978G>A	uc002ban.3	-	8	894	c.804C>T	c.(802-804)ccC>ccT	p.P268P	SNUPN_uc002bap.3_Silent_p.P310P|SNUPN_uc002baq.3_Silent_p.P268P|SNUPN_uc002bar.3_Silent_p.P268P|SNUPN_uc002bas.3_Silent_p.P268P	NM_005701	NP_005692	O95149	SPN1_HUMAN	Homo sapiens snurportin 1 (SNUPN), transcript variant 1, mRNA.	268	Necessary for binding to the m3G-cap structure.				ncRNA metabolic process|protein import into nucleus|spliceosomal snRNP assembly	cytosol|nuclear pore	RNA cap binding|protein transporter activity			endometrium(2)|large_intestine(3)|lung(2)|pancreas(1)	8						GAGTGCTTCCGGGGCTGTAGT	0.552000														132			76		0	0	1	0	0
PPP1R14B	26472	broad.mit.edu	37	11	64012292	64012292	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:64012292G>T	uc001nza.3	-	3	646	c.378C>A	c.(376-378)gcC>gcA	p.A126A		NM_138689	NP_619634	Q96C90	PP14B_HUMAN	Homo sapiens protein phosphatase 1, regulatory (inhibitor) subunit 14B (PPP1R14B), mRNA.	126					regulation of phosphorylation	cytoplasm	protein phosphatase inhibitor activity			kidney(1)|lung(1)|pancreas(1)	3						CAGAAATGAAGGCCTGGATGG	0.632000														47			27		1.39806e-14	1.75303e-14	1	1	0
GRHL3	57822	broad.mit.edu	37	1	24664190	24664190	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:24664190G>T	uc021oiw.1	+	5	981	c.751G>T	c.(751-753)Gcc>Tcc	p.A251S	GRHL3_uc001bix.3_Missense_Mutation_p.A251S|GRHL3_uc021oix.1_Missense_Mutation_p.A205S|GRHL3_uc001biy.3_Missense_Mutation_p.A256S|GRHL3_uc001biz.3_Missense_Mutation_p.A158S	NM_198174	NP_937817	Q8TE85	GRHL3_HUMAN	Homo sapiens grainyhead-like 3 (Drosophila) (GRHL3), transcript variant 3, mRNA.	251					regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		GTCACCCATGGCCTACCTCAA	0.597000														25			3		0.004672	0.00486265	1	1	0
LUZP1	7798	broad.mit.edu	37	1	23418567	23418567	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:23418567G>A	uc001bgk.2	-	3	2738	c.2188C>T	c.(2188-2190)Ctc>Ttc	p.L730F	LUZP1_uc010odv.1_Missense_Mutation_p.L730F|LUZP1_uc001bgl.3_Missense_Mutation_p.L730F|LUZP1_uc001bgm.1_Missense_Mutation_p.L730F	NM_033631	NP_361013	Q86V48	LUZP1_HUMAN	Homo sapiens leucine zipper protein 1 (LUZP1), transcript variant 1, mRNA.	730						nucleus				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		GTATCTGGGAGCTCCATGGTA	0.483000														168			105		0	0	1	0	0
FOXC2	2303	broad.mit.edu	37	16	86600952	86600952	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:86600952G>A	uc002fjq.3	+	0	96	c.11G>A	c.(10-12)cGc>cAc	p.R4H		NM_005251	NP_005242	Q99958	FOXC2_HUMAN	Homo sapiens forkhead box C2 (MFH-1, mesenchyme forkhead 1) (FOXC2), mRNA.	4					Notch signaling pathway|anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|embryonic viscerocranium morphogenesis|insulin receptor signaling pathway|lymphangiogenesis|metanephros development|negative regulation of transcription from RNA polymerase II promoter|neural crest cell fate commitment|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of cell adhesion mediated by integrin|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vascular wound healing|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	DNA bending activity|chromatin DNA binding|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	15						ATGCAGGCGCGCTACTCCGTG	0.721000									Late-onset Hereditary Lymphedema					17			14		0	0	1	0	0
ARHGEF2	9181	broad.mit.edu	37	1	155932767	155932767	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155932767C>T	uc001fmu.2	-	11	1319	c.1064G>A	c.(1063-1065)cGg>cAg	p.R355Q	ARHGEF2_uc001fmr.2_Missense_Mutation_p.R283Q|ARHGEF2_uc001fms.2_Missense_Mutation_p.R310Q|ARHGEF2_uc001fmt.2_Missense_Mutation_p.R311Q|ARHGEF2_uc010pgt.1_Missense_Mutation_p.R284Q|ARHGEF2_uc010pgu.1_Missense_Mutation_p.R356Q	NM_004723	NP_004714	Q92974	ARHG2_HUMAN	Homo sapiens Rho/Rac guanine nucleotide exchange factor (GEF) 2 (ARHGEF2), transcript variant 3, mRNA.	311	DH.				actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of Rho protein signal transduction|regulation of cell proliferation|small GTPase mediated signal transduction	Golgi apparatus|cytosol|microtubule|ruffle membrane|spindle|tight junction	Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|microtubule binding|zinc ion binding			breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					GACAAAGTTCCGGGTGCTGCC	0.597000														40			18		0	0	1	0	0
NBEAL2	23218	broad.mit.edu	37	3	47044503	47044503	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:47044503G>A	uc003cqp.3	+	33	5695	c.5516G>A	c.(5515-5517)cGt>cAt	p.R1839H	NBEAL2_uc010hjm.2_Missense_Mutation_p.R1216H|NBEAL2_uc010hjn.2_Missense_Mutation_p.R235H	NM_015175	NP_055990	Q6ZNJ1	NBEL2_HUMAN	Homo sapiens neurobeachin-like 2 (NBEAL2), mRNA.	1839							binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		TCACGCATGCGTCTGAAGCTG	0.592000														19			12		0	0	1	0	0
ATP6V1B2	526	broad.mit.edu	37	8	20070400	20070400	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:20070400C>T	uc003wzp.3	+	8	1125	c.911C>T	c.(910-912)gCt>gTt	p.A304V		NM_001693	NP_001684	P21281	VATB2_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2 (ATP6V1B2), mRNA.	304					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	Golgi apparatus|cytosol|endomembrane system|melanosome|plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			endometrium(1)|kidney(2)|lung(5)|prostate(1)	9				Colorectal(74;0.0535)|COAD - Colon adenocarcinoma(73;0.211)		AGTTCTTATGCTGAAGCACTT	0.383000														75			52		0	0	1	0	0
FOCAD	54914	broad.mit.edu	37	9	20862604	20862604	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:20862604G>A	uc003zog.1	+	17	2311	c.1948G>A	c.(1948-1950)Gct>Act	p.A650T	FOCAD_uc003zoh.1_Missense_Mutation_p.A86T	NM_017794	NP_060264	Q5VW36	K1797_HUMAN	Homo sapiens KIAA1797 (KIAA1797), mRNA.	650						integral to membrane	binding										CACTTGGAATGCTCTCTCTCC	0.403000														118			10		0	0	1	0	0
CAPNS2	84290	broad.mit.edu	37	16	55601375	55601375	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:55601375T>C	uc002eid.1	+	0	792	c.707T>C	c.(706-708)gTg>gCg	p.V236A	LPCAT2_uc002eie.4_Intron|LPCAT2_uc002eic.3_Intron	NM_032330	NP_115706	Q96L46	CPNS2_HUMAN	Homo sapiens calpain, small subunit 2 (CAPNS2), mRNA.	236	EF-hand 4.					cytoplasm|plasma membrane	calcium ion binding			central_nervous_system(1)|large_intestine(1)|lung(3)|prostate(2)	7						CTGATTCAAGTGTCTATCAAA	0.463000														141			12		0	0	1	0	0
MYO3B	140469	broad.mit.edu	37	2	171256710	171256710	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:171256710G>T	uc002ufy.3	+	16	1947	c.1804G>T	c.(1804-1806)Gtg>Ttg	p.V602L	MYO3B_uc002ufv.3_Missense_Mutation_p.V589L|MYO3B_uc010fqb.1_Missense_Mutation_p.V602L|MYO3B_uc002ufz.3_Missense_Mutation_p.V602L|MYO3B_uc002ufw.3_Non-coding_Transcript|MYO3B_uc002ufx.3_Non-coding_Transcript|MYO3B_uc002ugb.3_Non-coding_Transcript	NM_138995	NP_620482	Q8WXR4	MYO3B_HUMAN	Homo sapiens myosin IIIB (MYO3B), transcript variant 2, mRNA.	602	Myosin head-like.				response to stimulus|visual perception	cytoplasm|myosin complex	ATP binding|actin 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						GGTGCACTCAGTGTACAGAAT	0.413000														146			60		3.8688e-20	4.98827e-20	1	1	0
FAM58A	92002	broad.mit.edu	37	X	152861628	152861628	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:152861628G>A	uc011myr.2	-	2	229	c.118C>T	c.(118-120)Cgg>Tgg	p.R40W	FAM58A_uc011mys.2_Missense_Mutation_p.R40W	NM_152274	NP_689487	Q8N1B3	FA58A_HUMAN	Homo sapiens family with sequence similarity 58, member A (FAM58A), transcript variant 1, mRNA.	44					regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent		protein kinase binding			endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGAATGGACCGCATCCCTAGC	0.537000														42			40		0	0	1	0	0
CELSR2	1952	broad.mit.edu	37	1	109795318	109795318	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:109795318G>A	uc001dxa.4	+	0	2678	c.2617G>A	c.(2617-2619)Gtg>Atg	p.V873M		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 2 (flamingo homolog, Drosophila) (CELSR2), mRNA.	873	Cadherin 7.				Wnt receptor signaling pathway|dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent	cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		GTCAGGCATCGTGCGAACGCT	0.562000														37			48		0	0	1	0	0
ZNF74	7625	broad.mit.edu	37	22	20760798	20760798	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:20760798G>A	uc010gsm.3	+	5	1687	c.1475G>A	c.(1474-1476)cGc>cAc	p.R492H	ZNF74_uc002zsg.3_Missense_Mutation_p.R421H|ZNF74_uc002zsh.3_Missense_Mutation_p.R492H|ZNF74_uc002zsi.3_Missense_Mutation_p.R421H|ZNF74_uc010gsn.3_Missense_Mutation_p.R421H	NM_003426	NP_003417	Q16587	ZNF74_HUMAN	Homo sapiens zinc finger protein 74 (ZNF74), transcript variant 1, mRNA.	492					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|nucleus	DNA binding|RNA binding|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19	Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)|all_lung(157;0.248)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			GTGCACCGGCGCATCCACACA	0.637000														36			24		0	0	1	0	0
ZNF518B	85460	broad.mit.edu	37	4	10446802	10446802	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:10446802C>T	uc003gmn.3	-	2	1638	c.1151G>A	c.(1150-1152)cGt>cAt	p.R384H	ZNF518B_uc021xme.1_Missense_Mutation_p.R384H	NM_053042	NP_444270	Q9C0D4	Z518B_HUMAN	Homo sapiens zinc finger protein 518B (ZNF518B), mRNA.	384					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						TTTCACCATACGTTCAGAATT	0.413000														167			81		0	0	1	0	0
PCM1	5108	broad.mit.edu	37	8	17810546	17810546	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:17810546G>A	uc022asj.1	+	7	1278	c.1256G>A	c.(1255-1257)aGc>aAc	p.S419N	PCM1_uc003wyi.4_Missense_Mutation_p.S380N|PCM1_uc011kyh.2_Missense_Mutation_p.S380N|PCM1_uc003wyj.4_Missense_Mutation_p.S380N|PCM1_uc003wyg.2_Missense_Mutation_p.S380N|PCM1_uc003wyh.3_Missense_Mutation_p.S419N|PCM1_uc010lta.1_Missense_Mutation_p.S419N	NM_006197	NP_006188	Q15154	PCM1_HUMAN	Homo sapiens pericentriolar material 1 (PCM1), mRNA.	380					G2/M transition of mitotic cell cycle|centrosome organization|cilium assembly|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding		PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		GTTTCCCAGAGCAGGAAACCA	0.368000			T	"""RET, JAK2"""	"""papillary thyroid, CML, MPD"""									12			5		0	0	1	0	0
CELA1	1990	broad.mit.edu	37	12	51736384	51736384	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:51736384A>G	uc001ryi.1	-	3	342	c.301T>C	c.(301-303)Tgg>Cgg	p.W101R		NM_001971	NP_001962	Q9UNI1	CELA1_HUMAN	Homo sapiens chymotrypsin-like elastase family, member 1 (CELA1), mRNA.	101	Peptidase S1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	15						TCGCTGTTCCAGTATGGATGC	0.582000														85			11		0	0	1	0	0
PCDHB7	56129	broad.mit.edu	37	5	140554318	140554318	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140554318C>T	uc003lit.3	+	0	2076	c.1902C>T	c.(1900-1902)gaC>gaT	p.D634D		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	Homo sapiens protocadherin beta 7 (PCDHB7), mRNA.	634	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCGAGCGCGACGCAGCCAAGC	0.692000														87			23		0	0	1	0	0
HOMER1	9456	broad.mit.edu	37	5	78693448	78693448	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:78693448C>T	uc003kfy.3	-	6	1800	c.697G>A	c.(697-699)Gaa>Aaa	p.E233K	HOMER1_uc010jab.3_Intron|HOMER1_uc010jac.3_Missense_Mutation_p.E103K|HOMER1_uc010jad.3_Missense_Mutation_p.E59K	NM_004272	NP_004263	Q86YM7	HOME1_HUMAN	Homo sapiens homer homolog 1 (Drosophila) (HOMER1), mRNA.	233					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic density|postsynaptic membrane				endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|skin(1)	14		Lung NSC(167;0.00131)|all_lung(232;0.00151)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.87e-44)|Epithelial(54;7.07e-41)|all cancers(79;5.5e-36)		CTAACACATTCAAGTTCAGTC	0.328000														90			6		0	0	1	0	0
PAQR6	79957	broad.mit.edu	37	1	156214110	156214110	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:156214110C>T	uc001fnz.1	-	6	1214	c.598G>A	c.(598-600)Gca>Aca	p.A200T	PAQR6_uc001fnv.1_Missense_Mutation_p.R258H|PAQR6_uc010phg.1_Missense_Mutation_p.R279H|PAQR6_uc001fnx.1_Missense_Mutation_p.R176H|PAQR6_uc001fnu.1_Missense_Mutation_p.R282H|PAQR6_uc010phf.1_Missense_Mutation_p.A132T|PAQR6_uc001fny.1_Missense_Mutation_p.A60T|PAQR6_uc010phh.1_Missense_Mutation_p.R282H|PAQR6_uc001foa.1_Missense_Mutation_p.R176H|PAQR6_uc001fob.1_Non-coding_Transcript	NM_024897	NP_079173	Q6TCH4	PAQR6_HUMAN	Homo sapiens progestin and adipoQ receptor family member VI (PAQR6), transcript variant 1, mRNA.	56						integral to membrane	receptor activity			lung(4)|ovary(1)	5	Hepatocellular(266;0.158)					CCAGGCTCTGCGTGATCCCAT	0.607000														7			8		0	0	1	0	0
NFATC3	4775	broad.mit.edu	37	16	68156145	68156145	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:68156145G>A	uc002evo.2	+	1	675	c.359G>A	c.(358-360)tGt>tAt	p.C120Y	NFATC3_uc010vkl.2_5'UTR|NFATC3_uc010vkm.2_5'UTR|NFATC3_uc010vkn.2_5'UTR|NFATC3_uc010vko.2_5'UTR|NFATC3_uc010vkp.2_5'UTR|NFATC3_uc010vkq.2_5'UTR|NFATC3_uc002evl.3_Intron|NFATC3_uc002evk.3_Missense_Mutation_p.C120Y|NFATC3_uc002evm.2_Missense_Mutation_p.C120Y|NFATC3_uc002evn.2_Missense_Mutation_p.C120Y|NFATC3_uc010vkr.2_5'UTR|NFATC3_uc010vks.2_5'UTR|NFATC3_uc010vkt.2_5'UTR|NFATC3_uc010vku.2_5'UTR|NFATC3_uc010vkv.2_5'UTR|NFATC3_uc010vkw.2_5'UTR|NFATC3_uc010vkx.2_5'UTR|NFATC3_uc010vky.2_5'UTR|NFATC3_uc010vkz.2_5'UTR|NFATC3_uc010vla.2_5'UTR|NFATC3_uc010vlb.2_5'UTR|NFATC3_uc010vlc.2_5'UTR	NM_173165	NP_775188	Q12968	NFAC3_HUMAN	Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3 (NFATC3), transcript variant 1, mRNA.	120					inflammatory response|transcription from RNA polymerase II promoter	nucleolus|plasma membrane	DNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		TCTCCTAACTGTCATCAAGAA	0.398000														67			35		0	0	1	0	0
OR2A2	442361	broad.mit.edu	37	7	143807592	143807592	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:143807592G>A	uc011ktz.2	+	0	917	c.917G>A	c.(916-918)aGg>aAg	p.R306K		NM_001005480	NP_001005480	Q6IF42	OR2A2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 2 (OR2A2), mRNA.	306					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					GCACTCCAGAGGAAGAGGTCC	0.438000														76			92		0	0	1	0	0
PFAS	5198	broad.mit.edu	37	17	8159164	8159164	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:8159164C>T	uc002gkr.3	+	5	757	c.616C>T	c.(616-618)Cgc>Tgc	p.R206C	PFAS_uc010vuv.2_5'UTR	NM_012393	NP_036525	O15067	PUR4_HUMAN	Homo sapiens phosphoribosylformylglycinamidine synthase (PFAS), mRNA.	206					'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CTACACCAAGCGCTTCCAGGA	0.537000														54			20		0	0	1	0	0
ARID3B	10620	broad.mit.edu	37	15	74884148	74884148	+	Silent	SNP	C	T	T	rs149040930	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:74884148C>T	uc002aye.3	+	6	1614	c.1413C>T	c.(1411-1413)aaC>aaT	p.N471N	ARID3B_uc002ayd.3_Silent_p.N471N|ARID3B_uc010bjs.1_Silent_p.N176N	NM_006465	NP_006456	Q8IVW6	ARI3B_HUMAN	Homo sapiens AT rich interactive domain 3B (BRIGHT-like) (ARID3B), mRNA.	471	REKLES.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.N471S(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2)	14						TCAGGATCAACGGCAGGGGTG	0.642000														31			10		0	0	1	0	0
FLAD1	80308	broad.mit.edu	37	1	154962879	154962879	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:154962879C>T	uc001fgf.2	+	4	1830	c.1429C>T	c.(1429-1431)Cgg>Tgg	p.R477W	FLAD1_uc001fgd.2_3'UTR|FLAD1_uc001fge.2_Missense_Mutation_p.R380W|FLAD1_uc001fgg.2_Missense_Mutation_p.R380W|FLAD1_uc001fgh.1_Intron	NM_025207	NP_958800	Q8NFF5	FAD1_HUMAN	Homo sapiens FAD1 flavin adenine dinucleotide synthetase homolog (S. cerevisiae) (FLAD1), transcript variant 1, mRNA.	477	FAD synthase.				FAD biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|FMN adenylyltransferase activity			endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|ovary(3)|skin(3)	22	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			ACTGCAGGCACGGCACCCCCA	0.627000														29			13		0	0	1	0	0
ZFP112	7771	broad.mit.edu	37	19	44891353	44891353	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:44891353C>A	uc010xxa.2	-	3	1118	c.1075G>T	c.(1075-1077)Ggg>Tgg	p.G359W	ZFP112_uc010xwz.2_Intron|ZFP112_uc002ozd.4_Missense_Mutation_p.G352W	NM_152354	NP_689567	Q9UJU3	ZF112_HUMAN	Homo sapiens zinc finger protein 285 (ZNF285), mRNA.	645					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(1)|lung(8)|ovary(3)|prostate(4)|skin(3)	41						AATCCAAACCCTTTCCCACAT	0.478000														30			22		0.000295444	0.000317218	1	1	0
CHRDL2	25884	broad.mit.edu	37	11	74413958	74413958	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:74413958G>A	uc001ovh.3	-	8	1254	c.1001C>T	c.(1000-1002)gCa>gTa	p.A334V	CHRDL2_uc001ovg.3_Missense_Mutation_p.A218V|CHRDL2_uc001ovi.3_Missense_Mutation_p.A334V|CHRDL2_uc001ovj.1_Non-coding_Transcript|CHRDL2_uc001ovk.1_Missense_Mutation_p.A269V	NM_015424	NP_056239	Q6WN34	CRDL2_HUMAN	Homo sapiens chordin-like 2 (CHRDL2), mRNA.	334					cartilage development|cell differentiation|ossification	extracellular region|mitochondrion				endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)|skin(2)	15	Hepatocellular(1;0.098)					CCGGCCCGGTGCCTTGGGACA	0.567000											OREG0021223	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		46			28		0	0	1	0	0
ZNF193	7746	broad.mit.edu	37	6	28195029	28195029	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:28195029G>A	uc010jqz.2	+	1	356	c.167G>A	c.(166-168)cGa>cAa	p.R56Q	ZNF193_uc003nkr.2_Missense_Mutation_p.R56Q|ZNF193_uc003nkq.2_Missense_Mutation_p.R56Q	NM_001199479	NP_001186408	O15535	ZN193_HUMAN	Homo sapiens zinc finger protein 193 (ZNF193), transcript variant 1, mRNA.	56	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(1)|lung(5)|prostate(1)	8						AGGCACTTTCGACAGCTGTGC	0.507000														31			19		0	0	1	0	0
BPTF	2186	broad.mit.edu	37	17	65908009	65908009	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:65908009G>T	uc002jgf.3	+	10	4070	c.4009G>T	c.(4009-4011)Gtt>Ttt	p.V1337F	BPTF_uc002jge.3_Missense_Mutation_p.V1463F	NM_182641	NP_872579	Q12830	BPTF_HUMAN	Homo sapiens bromodomain PHD finger transcription factor (BPTF), transcript variant 1, mRNA.	1463					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex|cytoplasm	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			GTGTGAGTTGGTTTCTGGTGA	0.433000														11			18		2.37509e-13	2.95421e-13	1	1	0
TNR	7143	broad.mit.edu	37	1	175324739	175324739	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:175324739C>T	uc001gkp.1	-	14	3230	c.3149G>A	c.(3148-3150)aGt>aAt	p.S1050N	TNR_uc009wwu.1_Missense_Mutation_p.S1050N	NM_003285	NP_003276	Q92752	TENR_HUMAN	Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA.	1050	Fibronectin type-III 9.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		p.S1050I(2)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					GGTGACTTCACTGGCTGTCAG	0.552000														50			21		0	0	1	0	0
SLC26A3	1811	broad.mit.edu	37	7	107415298	107415298	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:107415298C>T	uc003ver.2	-	15	1908	c.1697G>A	c.(1696-1698)cGa>cAa	p.R566Q	SLC26A3_uc003ves.2_Missense_Mutation_p.R531Q	NM_000111	NP_000102	P40879	S26A3_HUMAN	Homo sapiens solute carrier family 26, member 3 (SLC26A3), mRNA.	566	STAS.				excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						GCGTAGAATTCGAAGTGGACT	0.398000														55			24		0	0	1	0	0
PABPC3	5042	broad.mit.edu	37	13	25671892	25671892	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:25671892G>A	uc001upy.3	+	0	1617	c.1556G>A	c.(1555-1557)cGt>cAt	p.R519H		NM_030979	NP_112241	Q9H361	PABP3_HUMAN	Homo sapiens poly(A) binding protein, cytoplasmic 3 (PABPC3), mRNA.	519					mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		CAGCAACATCGTAATGCACAG	0.537000														46			18		0	0	1	0	0
C11orf63	79864	broad.mit.edu	37	11	122774696	122774696	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:122774696G>T	uc001pym.3	+	2	705	c.408G>T	c.(406-408)aaG>aaT	p.K136N	C11orf63_uc001pyl.1_Missense_Mutation_p.K136N	NM_024806	NP_079082	Q6NUN7	CK063_HUMAN	Homo sapiens chromosome 11 open reading frame 63 (C11orf63), transcript variant 1, mRNA.	136										breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		AGAGTAAGAAGGAGGAAGGGC	0.512000														162			70		2.18329e-32	2.88559e-32	1	1	0
VAV3	10451	broad.mit.edu	37	1	108319905	108319905	+	Nonsense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:108319905C>A	uc001dvk.1	-	3	448	c.394G>T	c.(394-396)Gaa>Taa	p.E132*	VAV3_uc010ouw.1_Nonsense_Mutation_p.E132*|VAV3_uc001dvl.1_5'UTR|VAV3_uc010oux.1_Nonsense_Mutation_p.E132*	NM_006113	NP_006104	Q9UKW4	VAV3_HUMAN	Homo sapiens vav 3 guanine nucleotide exchange factor (VAV3), transcript variant 1, mRNA.	132					B cell receptor signaling pathway|angiogenesis|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|SH3/SH2 adaptor activity|metal ion binding			NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		ATGCTTTCTTCTGTTGGGAAG	0.378000														46			17		2.37509e-13	2.95421e-13	1	1	0
NR2E3	10002	broad.mit.edu	37	15	72105820	72105820	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:72105820C>T	uc002ati.3	+	5	1029	c.839C>T	c.(838-840)cCg>cTg	p.P280L	NR2E3_uc002ath.1_Missense_Mutation_p.P280L	NM_014249	NP_055064	Q9Y5X4	NR2E3_HUMAN	Homo sapiens nuclear receptor subfamily 2, group E, member 3 (NR2E3), transcript variant 2, mRNA.	280					phototransduction|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			breast(1)|endometrium(1)|lung(1)	3						CTGCTGGCACCGCCCGAGGCC	0.642000														10			6		0	0	1	0	0
MLL2	8085	broad.mit.edu	37	19	36221323	36221323	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:36221323C>A	uc021usv.1	+	23	5157	c.5157C>A	c.(5155-5157)ttC>ttA	p.F1719L	MLL2_uc021usu.1_Missense_Mutation_p.F533L	NM_014727	NP_055542	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 4 (MLL4), mRNA.	5168					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						AGCGGAAGTTCTTGACGGGGC	0.562000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				223			26		3.73148e-12	4.59117e-12	1	1	0
SREK1	140890	broad.mit.edu	37	5	65473450	65473450	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:65473450G>A	uc003jun.3	+	10	1809	c.1689G>A	c.(1687-1689)ggG>ggA	p.G563G	SREK1_uc010iwy.3_Silent_p.G446G|SREK1_uc003juo.3_Silent_p.G447G	NM_001077199	NP_631907	Q8WXA9	SREK1_HUMAN	Homo sapiens splicing regulatory glutamine/lysine-rich protein 1 (SREK1), transcript variant 1, mRNA.	447					RNA splicing|mRNA processing	spliceosomal complex	nucleic acid binding|nucleotide binding|protein binding			breast(1)|kidney(3)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)	9						ATAGAGATGGGAAGGAGAAGT	0.383000														76			46		0	0	1	0	0
ANKFY1	51479	broad.mit.edu	37	17	4076668	4076668	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:4076668C>T	uc002fxn.3	-	20	3238	c.3121G>A	c.(3121-3123)Gcc>Acc	p.A1041T	ANKFY1_uc002fxo.3_Missense_Mutation_p.A1000T|ANKFY1_uc002fxp.3_Missense_Mutation_p.A998T|ANKFY1_uc010ckp.3_Missense_Mutation_p.A941T|ANKFY1_uc002fxq.1_Missense_Mutation_p.A999T	NM_016376	NP_057460	Q9P2R3	ANFY1_HUMAN	Homo sapiens ankyrin repeat and FYVE domain containing 1 (ANKFY1), transcript variant 1, mRNA.	999						endosome membrane	metal ion binding|protein binding	p.P1041S(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						AAGGCTTCGGCGTCCACTGTG	0.597000														24			16		0	0	1	0	0
MED7	9443	broad.mit.edu	37	5	156565837	156565837	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:156565837T>C	uc010jik.3	-	1	998	c.606A>G	c.(604-606)gaA>gaG	p.E202E	MED7_uc003lwm.4_Silent_p.E202E|MED7_uc021ygl.1_Silent_p.E202E	NM_001100816	NP_004261	O43513	MED7_HUMAN	Homo sapiens mediator complex subunit 7 (MED7), transcript variant 1, mRNA.	202					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex|transcription factor complex	protein binding|transcription coactivator activity			kidney(1)|large_intestine(1)|lung(3)|urinary_tract(2)	7	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CTCTTTGATGTTCATTCTGTC	0.383000														140			21		0	0	1	0	0
PARD3	56288	broad.mit.edu	37	10	34688290	34688290	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:34688290G>A	uc010qej.2	-	6	1188	c.858C>T	c.(856-858)atC>atT	p.I286I	PARD3_uc010qep.2_Silent_p.I242I|PARD3_uc010qeq.2_Silent_p.I242I|PARD3_uc010qek.2_Silent_p.I286I|PARD3_uc010qel.2_Silent_p.I286I|PARD3_uc010qem.2_Silent_p.I286I|PARD3_uc010qen.2_Silent_p.I286I|PARD3_uc010qeo.2_Silent_p.I286I|PARD3_uc001ixo.2_Silent_p.I16I|PARD3_uc001ixr.2_Silent_p.I286I|PARD3_uc001ixq.2_Silent_p.I286I|PARD3_uc001ixp.2_Silent_p.I286I|PARD3_uc001ixt.1_Silent_p.I107I|PARD3_uc001ixu.2_Silent_p.I242I	NM_019619	NP_062565	Q8TEW0	PARD3_HUMAN	Homo sapiens par-3 partitioning defective 3 homolog (C. elegans) (PARD3), transcript variant 1, mRNA.	286	PDZ 1.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				GCACTACGTGGATTCCCAGAG	0.433000														92			8		0	0	1	0	0
TKT	7086	broad.mit.edu	37	3	53274267	53274267	+	Splice_Site	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:53274267C>A	uc003dgo.3	-	4	609	c.437_splice	c.e4+1	p.S146_splice	TKT_uc011beo.1_Splice_Site_p.S99_splice|TKT_uc003dgq.3_Splice_Site_p.S146_splice|TKT_uc011beq.2_Splice_Site_p.S146_splice|TKT_uc011ber.2_Splice_Site	NM_001135055	NP_001128527	P29401	TKT_HUMAN	Homo sapiens transketolase (TKT), transcript variant 2, mRNA.	146					energy reserve metabolic process|xylulose biosynthetic process	cytosol	protein binding|transketolase activity			endometrium(5)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17		Prostate(884;0.0959)		BRCA - Breast invasive adenocarcinoma(193;0.000159)|OV - Ovarian serous cystadenocarcinoma(275;0.000314)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)	Thiamine(DB00152)	GGTGTGTTACCTGGCCTTGTC	0.612000														37			20		0.000958276	0.00101866	1	1	0
ZSWIM2	151112	broad.mit.edu	37	2	187693297	187693297	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:187693297C>T	uc002upu.1	-	8	1356	c.1316G>A	c.(1315-1317)gGa>gAa	p.G439E		NM_182521	NP_872327	Q8NEG5	ZSWM2_HUMAN	Homo sapiens zinc finger, SWIM-type containing 2 (ZSWIM2), mRNA.	439					apoptosis		zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			AGGTAAAATTCCAAGTCTATT	0.333000														44			28		0	0	1	0	0
ATAD3C	219293	broad.mit.edu	37	1	1387813	1387813	+	Splice_Site	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:1387813C>T	uc001aft.2	+	3	1217	c.222_splice	c.e3+1	p.T74_splice		NM_001039211	NP_001034300	Q5T2N8	ATD3C_HUMAN	Homo sapiens ATPase family, AAA domain containing 3C (ATAD3C), mRNA.	74							ATP binding|nucleoside-triphosphatase activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|lung(4)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GTGACAGCCACGGTAAACATA	0.602000														41			26		0	0	1	0	0
ATXN7	6314	broad.mit.edu	37	3	63973906	63973906	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:63973906C>T	uc003dlv.3	+	8	1820	c.1267C>T	c.(1267-1269)Cag>Tag	p.Q423*	ATXN7_uc003dlw.4_Nonsense_Mutation_p.Q423*|ATXN7_uc021wzy.1_Nonsense_Mutation_p.Q423*|ATXN7_uc011bfn.2_Nonsense_Mutation_p.Q278*	NM_000333	NP_000324	O15265	ATX7_HUMAN	Homo sapiens ataxin 7 (ATXN7), transcript variant SCA7a, mRNA.	423	Pro-rich.				cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nuclear matrix|nucleolus	protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		TAGAACGTCACAGGAGCCGCA	0.532000														119			14		0	0	1	0	0
MED12L	116931	broad.mit.edu	37	3	150883718	150883718	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:150883718G>T	uc003eyp.3	+	9	1572	c.1443G>T	c.(1441-1443)gaG>gaT	p.E481D	MED12L_uc011bnz.2_Missense_Mutation_p.E341D|MED12L_uc003eyn.3_Missense_Mutation_p.E481D|MED12L_uc003eyo.3_Missense_Mutation_p.E481D	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	Homo sapiens mediator complex subunit 12-like (MED12L), mRNA.	481					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ATTCCATGGAGACACTTTATC	0.353000														108			10		9.70103e-10	1.16071e-09	1	1	0
HLF	3131	broad.mit.edu	37	17	53345266	53345266	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:53345266G>A	uc002iug.1	+	1	795	c.270G>A	c.(268-270)gaG>gaA	p.E90E	HLF_uc010dce.1_Silent_p.E5E|HLF_uc002iuh.2_Silent_p.E5E|HLF_uc010wni.1_Missense_Mutation_p.S39N	NM_002126	NP_002117	Q16534	HLF_HUMAN	Homo sapiens hepatic leukemia factor (HLF), mRNA.	90					multicellular organismal development|rhythmic process|transcription from RNA polymerase II promoter	nucleus	double-stranded DNA binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|ovary(2)	3						ACCTGGAGGAGTTTTTGTCAG	0.582000			T	TCF3	ALL									74			45		0	0	1	0	0
LCTL	197021	broad.mit.edu	37	15	66845562	66845562	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:66845562C>T	uc002aqc.3	-	8	1089	c.957G>A	c.(955-957)tcG>tcA	p.S319S	LCTL_uc002aqd.4_Silent_p.S146S|LCTL_uc010bhw.3_Silent_p.S17S	NM_207338	NP_997221	Q6UWM7	LCTL_HUMAN	Homo sapiens lactase-like (LCTL), mRNA.	319					carbohydrate metabolic process	endoplasmic reticulum membrane|integral to membrane	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	p.S319L(1)		NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CCGGTAACCTCGACATCTCCA	0.423000														154			15		0	0	1	0	0
TRIM41	90933	broad.mit.edu	37	5	180660724	180660724	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:180660724G>A	uc003mne.2	+	4	1989	c.1252G>A	c.(1252-1254)Gtg>Atg	p.V418M	TRIM41_uc003mnc.2_3'UTR|TRIM41_uc003mnd.2_Missense_Mutation_p.V418M|TRIM41_uc003mnf.2_Non-coding_Transcript|TRIM41_uc003mng.1_5'UTR	NM_033549	NP_291027	Q8WV44	TRI41_HUMAN	Homo sapiens tripartite motif containing 41 (TRIM41), transcript variant 1, mRNA.	418	B30.2/SPRY.					cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|prostate(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;9.17e-06)|all_epithelial(37;1.19e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGATGCCATCGTGAGGAAAAT	0.587000														36			27		0	0	1	0	0
HSPG2	3339	broad.mit.edu	37	1	22181199	22181199	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:22181199C>A	uc009vqd.3	-	48	6236	c.6196G>T	c.(6196-6198)Ggg>Tgg	p.G2066W	HSPG2_uc001bfj.3_Missense_Mutation_p.G2065W	NM_005529	NP_005520	P98160	PGBM_HUMAN	Homo sapiens heparan sulfate proteoglycan 2 (HSPG2), mRNA.	2065	Ig-like C2-type 6.				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)	AGTGTTTGCCCTTCTGTCACA	0.642000														10			6		2.0095e-06	2.27092e-06	1	1	0
ELF5	2001	broad.mit.edu	37	11	34515065	34515065	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:34515065C>T	uc001mvo.1	-	2	576	c.346G>A	c.(346-348)Gag>Aag	p.E116K	ELF5_uc021qft.1_Intron|ELF5_uc001mvp.2_Missense_Mutation_p.E106K|ELF5_uc009ykd.2_Intron|ELF5_uc001mvq.2_Missense_Mutation_p.E106K	NM_198381	NP_001413	Q9UKW6	ELF5_HUMAN	Homo sapiens E74-like factor 5 (ets domain transcription factor) (ELF5), transcript variant 1, mRNA.	116	PNT.				cell proliferation|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.G115S(1)		large_intestine(4)|skin(1)	5		Acute lymphoblastic leukemia(5;0.0087)|all_hematologic(20;0.0384)				TACAGGTACTCGCCGCAGAGG	0.557000											OREG0020879	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		15			12		0	0	1	0	0
PEX13	5194	broad.mit.edu	37	2	61258831	61258831	+	Nonsense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:61258831G>T	uc002sau.4	+	1	453	c.370G>T	c.(370-372)Gaa>Taa	p.E124*		NM_002618	NP_002609	Q92968	PEX13_HUMAN	Homo sapiens peroxisomal biogenesis factor 13 (PEX13), mRNA.	124					cerebral cortex cell migration|fatty acid alpha-oxidation|locomotory behavior|microtubule-based peroxisome localization|neuron migration|protein import into peroxisome matrix, docking|suckling behavior	integral to peroxisomal membrane|membrane fraction	protein binding			endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10			LUSC - Lung squamous cell carcinoma(5;2.05e-06)|Lung(5;3.13e-05)|Epithelial(17;0.114)			GCAAGCTGAAGAAAGCAGCAG	0.448000														99			8		1.12685e-05	1.25391e-05	1	1	0
KRTAP9-4	85280	broad.mit.edu	37	17	39406254	39406254	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:39406254C>T	uc002hwi.3	+	0	316	c.282C>T	c.(280-282)agC>agT	p.S94S		NM_033191	NP_149461	Q9BYQ2	KRA94_HUMAN	Homo sapiens keratin associated protein 9-4 (KRTAP9-4), mRNA.	94	15 X 5 AA repeats of C-C-[RQVGE]-[SPTN]- [TASPF].					keratin filament				breast(1)|large_intestine(1)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			ACCAGAGCAGCTCCTGTGCAC	0.622000														65			38		0	0	1	0	0
C6	729	broad.mit.edu	37	5	41176734	41176734	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:41176734G>T	uc003jmk.2	-	7	1221	c.1011C>A	c.(1009-1011)gtC>gtA	p.V337V	C6_uc003jml.1_Silent_p.V337V|RN7SK_uc021xxu.1_5'Flank	NM_000065	NP_001108603	P13671	CO6_HUMAN	Homo sapiens complement component 6 (C6), transcript variant 1, mRNA.	337	MACPF.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CTTTCAAAAAGACATCAGAAA	0.383000														81			8		0.00448238	0.0046769	1	1	0
TEX10	54881	broad.mit.edu	37	9	103109555	103109555	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:103109555G>A	uc004bas.3	-	2	529	c.314C>T	c.(313-315)gCt>gTt	p.A105V	TEX10_uc011lvf.2_Missense_Mutation_p.A40V|TEX10_uc011lvg.2_Missense_Mutation_p.A108V|TEX10_uc011lvh.1_Missense_Mutation_p.A40V	NM_017746	NP_060216	Q9NXF1	TEX10_HUMAN	Homo sapiens testis expressed 10 (TEX10), transcript variant 1, mRNA.	105						MLL1 complex|integral to membrane|nuclear membrane|nucleolus	binding			NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	38		Acute lymphoblastic leukemia(62;0.0527)		OV - Ovarian serous cystadenocarcinoma(323;0.157)		TGTAAACACAGCAGTCACTTC	0.368000														191			19		0	0	1	0	0
KCNC1	3746	broad.mit.edu	37	11	17793591	17793591	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:17793591G>A	uc009yhc.1	+	1	1005	c.950G>A	c.(949-951)cGc>cAc	p.R317H	KCNC1_uc001mnk.4_Missense_Mutation_p.R317H	NM_001112741	NP_001106212	P48547	KCNC1_HUMAN	Homo sapiens potassium voltage-gated channel, Shaw-related subfamily, member 1 (KCNC1), transcript variant A, mRNA.	317						voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.R317H(3)		breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						CGCTTCGTGCGCATCTTGCGC	0.647000														8			7		0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7583670	7583670	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:7583670A>C	uc003mxp.1	+	23	6454	c.6175A>C	c.(6175-6177)Att>Ctt	p.I2059L	DSP_uc003mxq.1_Missense_Mutation_p.I1460L|DSP_uc021yle.1_Missense_Mutation_p.I1616L	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	2059	Globular 2.				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)		AGGTGGTATAATTGATCCCCA	0.473000														81			9		0	0	1	0	0
MFSD2B	388931	broad.mit.edu	37	2	24239760	24239760	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:24239760G>A	uc002reo.2	+	3	407	c.393G>A	c.(391-393)ctG>ctA	p.L131L	MFSD2B_uc010exz.2_Non-coding_Transcript	NM_001080473	NP_001073942	A6NFX1	MFS2B_HUMAN	Homo sapiens major facilitator superfamily domain containing 2B (MFSD2B), mRNA.	131					transport	integral to membrane				cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10						ACTTCTTCCTGTGGTTCCTGC	0.662000														37			4		0	0	1	0	0
SGSM2	9905	broad.mit.edu	37	17	2265508	2265508	+	Silent	SNP	G	T	T	rs148544625		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:2265508G>T	uc002fum.4	+	3	579	c.402G>T	c.(400-402)acG>acT	p.T134T	SGSM2_uc002fun.4_Silent_p.T134T|SGSM2_uc010vqw.2_Silent_p.T134T|SGSM2_uc021tnp.1_5'Flank	NM_014853	NP_055668	O43147	SGSM2_HUMAN	Homo sapiens small G protein signaling modulator 2 (SGSM2), transcript variant 1, mRNA.	134	RUN.					intracellular	Rab GTPase activator activity			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)		GGGTACGCACGGCGCTCATCG	0.637000														52			24		2.00529e-23	2.61377e-23	1	1	0
OPN3	23596	broad.mit.edu	37	1	241757990	241757990	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:241757990G>A	uc001hza.3	-	3	1094	c.949C>T	c.(949-951)Cga>Tga	p.R317*	KMO_uc009xgp.3_3'UTR|OPN3_uc001hzb.3_Non-coding_Transcript|OPN3_uc001hzc.3_Non-coding_Transcript	NM_014322	NP_055137	Q9H1Y3	OPN3_HUMAN	Homo sapiens opsin 3 (OPN3), mRNA.	317					phototransduction|protein-chromophore linkage|regulation of circadian rhythm|visual perception	integral to plasma membrane	G-protein coupled photoreceptor activity			endometrium(1)|large_intestine(5)|lung(5)	11	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			AGGGATCTTCGAAACTGGGCA	0.438000														63			4		0	0	1	0	0
PHYHIP	9796	broad.mit.edu	37	8	22085844	22085844	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:22085844G>A	uc003xbk.4	-	2	721	c.27C>T	c.(25-27)agC>agT	p.S9S	PHYHIP_uc003xbj.4_Silent_p.S9S	NM_001099335	NP_055574	Q92561	PHYIP_HUMAN	Homo sapiens phytanoyl-CoA 2-hydroxylase interacting protein (PHYHIP), transcript variant 1, mRNA.	9	Fibronectin type-III.									endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	10				Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0629)		TGATCTCAATGCTGTGGGGCG	0.577000														7			3		0	0	1	0	0
TRIM28	10155	broad.mit.edu	37	19	59057241	59057241	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:59057241G>A	uc002qtg.1	+	2	853	c.564G>A	c.(562-564)aaG>aaA	p.K188K	TRIM28_uc010eut.1_Intron|TRIM28_uc002qth.1_5'Flank	NM_005762	NP_005753	Q13263	TIF1B_HUMAN	Homo sapiens tripartite motif containing 28 (TRIM28), mRNA.	188	RBCC domain.				epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent	nucleoplasm	chromo shadow domain binding|ligase activity|transcription corepressor activity|zinc ion binding			biliary_tract(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		AGTACACCAAGGACCATACTG	0.557000														46			15		0	0	1	0	0
PDXDC1	23042	broad.mit.edu	37	16	15100279	15100279	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:15100279G>A	uc002dda.4	+	5	642	c.418G>A	c.(418-420)Gaa>Aaa	p.E140K	PDXDC1_uc010uzl.2_Missense_Mutation_p.E125K|PDXDC1_uc010uzm.2_Missense_Mutation_p.E49K|PDXDC1_uc010bvc.1_Missense_Mutation_p.E81K|PDXDC1_uc002dcz.3_Missense_Mutation_p.E140K|PDXDC1_uc002ddb.4_Missense_Mutation_p.E113K|PDXDC1_uc010uzn.2_Missense_Mutation_p.E112K|PDXDC1_uc002ddc.3_Missense_Mutation_p.E140K	NM_015027	NP_055842	Q6P996	PDXD1_HUMAN	Homo sapiens pyridoxal-dependent decarboxylase domain containing 1 (PDXDC1), mRNA.	140					carboxylic acid metabolic process		carboxy-lyase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(10)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	TTATTTCCACGAAGAGGAAAG	0.343000														162			28		0	0	1	0	0
MAN2A1	4124	broad.mit.edu	37	5	109117137	109117137	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:109117137A>G	uc003kou.1	+	8	2378	c.1415A>G	c.(1414-1416)gAt>gGt	p.D472G		NM_002372	NP_002363	Q16706	MA2A1_HUMAN	Homo sapiens mannosidase, alpha, class 2A, member 1 (MAN2A1), mRNA.	472					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding	p.L471L(1)		breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		GATGCGCTGGATAAAGCAGAT	0.333000														49			5		0	0	1	0	0
CRTAC1	55118	broad.mit.edu	37	10	99655064	99655064	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:99655064C>A	uc001kou.2	-	10	1780	c.1424G>T	c.(1423-1425)aGg>aTg	p.R475M	CRTAC1_uc001kov.3_Missense_Mutation_p.R475M|CRTAC1_uc001kot.2_Missense_Mutation_p.R265M	NM_018058	NP_060528	Q9NQ79	CRAC1_HUMAN	Homo sapiens cartilage acidic protein 1 (CRTAC1), transcript variant 1, mRNA.	475						proteinaceous extracellular matrix	calcium ion binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		GTCGATGATCCTCAGGTGGGC	0.622000														20			18		6.49762e-13	8.04122e-13	1	1	0
NCOA5	57727	broad.mit.edu	37	20	44692146	44692146	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:44692146G>A	uc002xrd.3	-	5	1531	c.1003C>T	c.(1003-1005)Cgt>Tgt	p.R335C	NCOA5_uc002xrc.3_Missense_Mutation_p.R223C|NCOA5_uc002xre.3_Missense_Mutation_p.R335C	NM_020967	NP_066018	Q9HCD5	NCOA5_HUMAN	Homo sapiens nuclear receptor coactivator 5 (NCOA5), mRNA.	335					regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation	nucleus	ATP binding|aminoacyl-tRNA ligase activity	p.R335H(2)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				TGGCCCCCACGCACTCCCTCC	0.587000														25			17		0	0	1	0	0
ACTL10	170487	broad.mit.edu	37	20	32255536	32255536	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:32255536C>T	uc002wzt.3	+	0	1233	c.233C>T	c.(232-234)aCa>aTa	p.T78I	NECAB3_uc002wzm.4_Intron|NECAB3_uc002wzn.4_Intron|NECAB3_uc002wzo.4_Intron	NM_001024675	NP_001019846	Q5JWF8	CT134_HUMAN	Homo sapiens actin-like 10 (ACTL10), mRNA.	78																	AAGGCCATCACACATCTCAAG	0.672000														15			12		0	0	1	0	0
AMELX	265	broad.mit.edu	37	X	11316260	11316260	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:11316260C>T	uc004cus.3	+	3	208	c.140C>T	c.(139-141)gCa>gTa	p.A47V	ARHGAP6_uc004cup.1_Intron|ARHGAP6_uc004cuo.1_Intron|ARHGAP6_uc004cur.1_Intron|ARHGAP6_uc004cun.1_Intron|ARHGAP6_uc011mif.1_Intron|AMELX_uc004cut.3_Intron|AMELX_uc004cuu.3_Intron	NM_182680	NP_872621	Q99217	AMELX_HUMAN	Homo sapiens amelogenin, X-linked (AMELX), transcript variant 3, mRNA.	34					cell adhesion|cell proliferation|chondrocyte differentiation|enamel mineralization|epithelial to mesenchymal transition|ion homeostasis|odontogenesis of dentine-containing tooth|osteoblast differentiation|positive regulation of collagen biosynthetic process|positive regulation of tooth mineralization|signal transduction	proteinaceous extracellular matrix	cell surface binding|growth factor activity|hydroxyapatite binding|identical protein binding|structural constituent of tooth enamel			endometrium(3)|kidney(2)|large_intestine(1)|lung(9)	15						GACAGGACTGCATTAGTGAGT	0.358000														323			30		0	0	1	0	0
GPR133	283383	broad.mit.edu	37	12	131593422	131593422	+	Splice_Site	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:131593422G>T	uc010tbm.2	+	19	2696	c.2137_splice	c.e19+1	p.G713_splice	GPR133_uc001uit.4_Splice_Site_p.G681_splice|GPR133_uc009zyo.3_Intron|GPR133_uc001uiv.1_Splice_Site_p.G200_splice|GPR133_uc009zyp.3_Splice_Site	NM_198827	NP_942122	Q6QNK2	GP133_HUMAN	Homo sapiens G protein-coupled receptor 133 (GPR133), mRNA.	681					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		gatgggatggggtaggtgggg	0.622000														30			25		2.98393e-07	3.43467e-07	1	1	0
INO80B	83444	broad.mit.edu	37	2	74683276	74683276	+	Silent	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:74683276A>C	uc010yrs.2	+	2	672	c.471A>C	c.(469-471)ggA>ggC	p.G157G	INO80B_uc002slg.3_Silent_p.G139G|INO80B_uc010yrr.2_Splice_Site_p.G111_splice|INO80B_uc002sli.2_Non-coding_Transcript|WBP1_uc002slj.2_5'Flank|WBP1_uc002sll.2_5'Flank	NM_031288	NP_112578	Q9C086	IN80B_HUMAN	Homo sapiens INO80 complex subunit B (INO80B), mRNA.	139					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex|nucleolus	metal ion binding|protein binding			endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	13						ACCTATCAGGAGGGTTAGGGG	0.517000														27			16		0	0	1	0	0
CUL4B	8450	broad.mit.edu	37	X	119674287	119674287	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:119674287G>T	uc004esw.3	-	12	2065	c.1628C>A	c.(1627-1629)gCc>gAc	p.A543D	CUL4B_uc010nqq.3_Missense_Mutation_p.A242D|CUL4B_uc004esv.3_Missense_Mutation_p.A525D	NM_003588	NP_003579	Q13620	CUL4B_HUMAN	Homo sapiens cullin 4B (CUL4B), transcript variant 1, mRNA.	543					DNA repair|cell cycle|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TTCTTTCATGGCATTGATAAA	0.313000														45			26		1.5548e-18	1.99422e-18	1	1	0
BRPF1	7862	broad.mit.edu	37	3	9785586	9785586	+	Splice_Site	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:9785586G>A	uc003bse.3	+	8	3016	c.2617_splice	c.e8+1	p.G873_splice	BRPF1_uc003bsf.3_Splice_Site_p.G879_splice|BRPF1_uc003bsg.3_Splice_Site_p.G872_splice|BRPF1_uc011ati.2_Splice_Site_p.D873_splice	NM_004634	NP_004625	P55201	BRPF1_HUMAN	Homo sapiens bromodomain and PHD finger containing, 1 (BRPF1), transcript variant 2, mRNA.	873	Required for RUNX1 and RUNX2 transcriptional activation.				histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|cytoplasm|plasma membrane	DNA binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					ACAAGCAAAGGTCTGAATCCC	0.597000														19			3		0	0	1	0	0
FUT2	2524	broad.mit.edu	37	19	49206500	49206500	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:49206500C>T	uc002pke.4	+	1	398	c.287C>T	c.(286-288)cCg>cTg	p.P96L	FUT2_uc010emc.3_Missense_Mutation_p.P96L|FUT2_uc021uwx.1_Missense_Mutation_p.P96L	NM_001097638	NP_001091107	Q10981	FUT2_HUMAN	Homo sapiens fucosyltransferase 2 (secretor status included) (FUT2), transcript variant 2, mRNA.	96					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	galactoside 2-alpha-L-fucosyltransferase activity			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)	7		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.00011)|all cancers(93;0.000238)|GBM - Glioblastoma multiforme(486;0.0164)|Epithelial(262;0.017)		GCCTTCATCCCGGCCCAGATG	0.642000														15			12		0	0	1	0	0
GANC	2595	broad.mit.edu	37	15	42640395	42640395	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:42640395G>A	uc001zpi.3	+	20	2713	c.2399G>A	c.(2398-2400)cGg>cAg	p.R800Q	CAPN3_uc001zpk.1_5'UTR|CAPN3_uc001zpl.1_5'UTR	NM_198141	NP_937784	Q8TET4	GANC_HUMAN	Homo sapiens glucosidase, alpha; neutral C (GANC), mRNA.	800					carbohydrate metabolic process		carbohydrate binding|maltose alpha-glucosidase activity			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)		GBM - Glioblastoma multiforme(94;1.06e-06)		TATGGACTCCGGGTTGCTCTA	0.408000														17			12		0	0	1	0	0
ZNF276	92822	broad.mit.edu	37	16	89800422	89800422	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:89800422C>T	uc002fos.4	+	8	1547	c.1450C>T	c.(1450-1452)Cgc>Tgc	p.R484C	ZNF276_uc010ciq.3_Missense_Mutation_p.R270C|ZNF276_uc002foq.4_Missense_Mutation_p.R409C|ZNF276_uc010cir.3_Non-coding_Transcript|ZNF276_uc002for.4_Missense_Mutation_p.R270C|ZNF276_uc010cis.3_Missense_Mutation_p.R243C|ZNF276_uc002fot.4_Non-coding_Transcript|ZNF276_uc010vpm.2_Missense_Mutation_p.R322C|ZNF276_uc010cit.2_Missense_Mutation_p.R243C	NM_001113525	NP_001106997	Q8N554	ZN276_HUMAN	Homo sapiens zinc finger protein 276 (ZNF276), transcript variant a, mRNA.	484					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)	14		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		CTACCTGCAGCGCCACGTGAA	0.622000														31			25		0	0	1	0	0
ACSS2	55902	broad.mit.edu	37	20	33511157	33511157	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:33511157G>A	uc010gey.2	+	14	1740	c.1619G>A	c.(1618-1620)cGc>cAc	p.R540H	ACSS2_uc002xbc.2_Missense_Mutation_p.R432H|ACSS2_uc010zum.1_Non-coding_Transcript|ACSS2_uc002xbd.2_Missense_Mutation_p.R527H|ACSS2_uc002xbe.2_Missense_Mutation_p.R235H	NM_001076552	NP_001070020	Q9NR19	ACSA_HUMAN	Homo sapiens acyl-CoA synthetase short-chain family member 2 (ACSS2), transcript variant 2, mRNA.	527					ethanol oxidation|lipid biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	ATP binding|acetate-CoA ligase activity|protein binding			cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(9)	21					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	GGGATCATGCGCACAGTCTAT	0.483000														20			9		0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7583868	7583868	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:7583868C>T	uc003mxp.1	+	23	6652	c.6373C>T	c.(6373-6375)Ctg>Ttg	p.L2125L	DSP_uc003mxq.1_Silent_p.L1526L|DSP_uc021yle.1_Silent_p.L1682L	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	2125	Globular 2.				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)		AATGCGCCTGCTGGAAGCCCA	0.458000														43			36		0	0	1	0	0
TXNRD2	10587	broad.mit.edu	37	22	19882975	19882975	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:19882975C>T	uc021wlj.1	-	10	937	c.904G>A	c.(904-906)Ggc>Agc	p.G302S	TXNRD2_uc002zqo.1_Non-coding_Transcript|TXNRD2_uc002zqr.1_Missense_Mutation_p.G301S|TXNRD2_uc010grv.1_Missense_Mutation_p.G302S|TXNRD2_uc002zqj.1_Non-coding_Transcript|TXNRD2_uc002zqs.2_Missense_Mutation_p.G270S	NM_006440		Q9NNW7	TRXR2_HUMAN	Homo sapiens thioredoxin reductase 2 (TXNRD2), nuclear gene encoding mitochondrial protein, mRNA.	302					cell redox homeostasis|response to oxygen radical	mitochondrion	NADP binding|flavin adenine dinucleotide binding|thioredoxin-disulfide reductase activity			breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|urinary_tract(2)	30	Colorectal(54;0.0993)					TCCTCCTTGCCGGTGGTGCTG	0.662000														93			44		0	0	1	0	0
ZNF137P	7696	broad.mit.edu	37	19	53100172	53100172	+	RNA	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:53100172T>C	uc002pzt.3	+	0		c.236T>C								Homo sapiens zinc finger protein 137, pseudogene (ZNF137P), non-coding RNA.																		AGAGAAACCTTACAAGTGTAA	0.393000														10			13		0	0	1	0	0
NID2	22795	broad.mit.edu	37	14	52535644	52535644	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:52535644C>T	uc001wzo.3	-	0	303	c.69G>A	c.(67-69)ttG>ttA	p.L23L	NID2_uc010tqs.2_Silent_p.L23L|NID2_uc010tqt.1_Silent_p.L23L|NID2_uc001wzp.3_Silent_p.L23L	NM_007361	NP_031387	Q14112	NID2_HUMAN	Homo sapiens nidogen 2 (osteonidogen) (NID2), mRNA.	23						basement membrane	calcium ion binding|collagen binding			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					GCAACATTAGCAACGGCAGCA	0.687000														35			5		0	0	1	0	0
PLD2	5338	broad.mit.edu	37	17	4725991	4725991	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:4725991C>T	uc002fzc.3	+	24	2760	c.2634C>T	c.(2632-2634)taC>taT	p.Y878Y	PLD2_uc002fzd.3_Silent_p.Y867Y	NM_002663	NP_002654	O14939	PLD2_HUMAN	Homo sapiens phospholipase D2 (PLD2), transcript variant 1, mRNA.	878					cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	TCCGGGAGTACGTGGCCGTGG	0.657000														41			38		0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41452189	41452189	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:41452189C>T	uc002yyq.1	-	24	4762	c.4310G>A	c.(4309-4311)cGc>cAc	p.R1437H	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	1437	Fibronectin type-III 5.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	p.Y1436D(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				ATTTTCCAAGCGATAGGAACG	0.478000														64			32		0	0	1	0	0
INTU	27152	broad.mit.edu	37	4	128632127	128632127	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:128632127G>A	uc003ifk.2	+	13	2532	c.2429G>A	c.(2428-2430)gGa>gAa	p.G810E	INTU_uc011cgq.2_Non-coding_Transcript	NM_015693	NP_056508	Q9ULD6	PDZD6_HUMAN	Homo sapiens inturned planar cell polarity effector homolog (Drosophila) (INTU), mRNA.	810								p.Q809K(1)		breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						ACAGTGCAAGGAATCTTTATT	0.383000														37			21		0	0	1	0	0
OR5W2	390148	broad.mit.edu	37	11	55681569	55681569	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:55681569A>C	uc010rir.2	-	0	490	c.490T>G	c.(490-492)Ttc>Gtc	p.F164V		NM_001001960	NP_001001960	Q8NH69	OR5W2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily W, member 2 (OR5W2), mRNA.	164					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CATAGGCGGAAGGCCAGTGTC	0.433000														89			12		0	0	1	0	0
PLXNA2	5362	broad.mit.edu	37	1	208315692	208315692	+	Silent	SNP	G	A	A	rs149871348	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:208315692G>A	uc001hgz.3	-	3	2246	c.1488C>T	c.(1486-1488)taC>taT	p.Y496Y		NM_025179	NP_079455	O75051	PLXA2_HUMAN	Homo sapiens plexin A2 (PLXNA2), mRNA.	496	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		CAGACATGACGTACAGGTAGC	0.512000														36			34		0	0	1	0	0
ZFYVE27	118813	broad.mit.edu	37	10	99509276	99509276	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:99509276G>A	uc001kol.2	+	5	803	c.597G>A	c.(595-597)ctG>ctA	p.L199L	ZFYVE27_uc001kok.2_Non-coding_Transcript|ZFYVE27_uc010qpc.2_Non-coding_Transcript|ZFYVE27_uc001kom.2_Silent_p.L199L|ZFYVE27_uc010qpb.2_Silent_p.L101L|ZFYVE27_uc010qpd.2_Silent_p.L167L|ZFYVE27_uc001koq.3_Silent_p.L113L|ZFYVE27_uc010qpa.2_Silent_p.L81L|ZFYVE27_uc021pwq.1_Silent_p.L199L	NM_144588	NP_653189	Q5T4F4	ZFY27_HUMAN	Homo sapiens zinc finger, FYVE domain containing 27 (ZFYVE27), transcript variant 2, mRNA.	199					cell death|nerve growth factor receptor signaling pathway|neuron projection development|protein localization in plasma membrane	axon|dendrite|endoplasmic reticulum membrane|growth cone membrane|integral to membrane|recycling endosome membrane	metal ion binding|protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	8		Colorectal(252;0.0846)		Epithelial(162;7.08e-10)|all cancers(201;5.18e-08)		TGTATTTGCTGCCACTCTGCT	0.522000														76			12		0	0	1	0	0
OR4K2	390431	broad.mit.edu	37	14	20344654	20344654	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:20344654C>T	uc001vwh.1	+	0	228	c.228C>T	c.(226-228)ttC>ttT	p.F76F		NM_001005501	NP_001005501	Q8NGD2	OR4K2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 2 (OR4K2), mRNA.	76					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTGCTTCTTTCGCCACCCCAA	0.418000														178			97		0	0	1	0	0
TMEM168	64418	broad.mit.edu	37	7	112424426	112424426	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:112424426G>A	uc003vgn.3	-	1	847	c.455C>T	c.(454-456)aCt>aTt	p.T152I	TMEM168_uc010lju.3_Missense_Mutation_p.T152I|TMEM168_uc011kmr.2_Intron	NM_022484	NP_071929	Q9H0V1	TM168_HUMAN	Homo sapiens transmembrane protein 168 (TMEM168), mRNA.	152						integral to membrane|transport vesicle				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1)	32						GGTTAGTAAAGTGGGCCGATG	0.408000														82			8		0	0	1	0	0
PRRC2C	23215	broad.mit.edu	37	1	171482312	171482312	+	Splice_Site	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:171482312G>A	uc010pmg.2	+	3	550	c.284_splice	c.e3+1	p.K95_splice	PRRC2C_uc001ghq.1_Splice_Site_p.K97_splice|PRRC2C_uc001ghr.1_Splice_Site_p.K97_splice	NM_015172	NP_055987	Q9Y520	PRC2C_HUMAN	Homo sapiens proline-rich coiled-coil 2C (PRRC2C), mRNA.	95							protein C-terminus binding										AAGAAGAAAAGTGAGTCAAAG	0.383000														8			7		0	0	1	0	0
HSF5	124535	broad.mit.edu	37	17	56557567	56557567	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:56557567G>T	uc002iwi.1	-	1	736	c.612C>A	c.(610-612)tcC>tcA	p.S204S		NM_001080439	NP_001073908	Q4G112	HSF5_HUMAN	Homo sapiens heat shock transcription factor family member 5 (HSF5), mRNA.	204						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	16	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TTGATACACAGGAGTAAGGAG	0.448000														63			8		7.48243e-07	8.52591e-07	1	1	0
RMND1	55005	broad.mit.edu	37	6	151766610	151766610	+	Silent	SNP	G	A	A	rs150212790		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:151766610G>A	uc003qoi.2	-	1	517	c.337C>T	c.(337-339)Ctg>Ttg	p.L113L	RMND1_uc011eeq.1_5'Flank|RMND1_uc003qoj.3_Silent_p.L113L|RMND1_uc011eer.1_Silent_p.L113L	NM_017909	NP_060379	Q9NWS8	RMND1_HUMAN	Homo sapiens required for meiotic nuclear division 1 homolog (S. cerevisiae) (RMND1), mRNA.	113										central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.146)	OV - Ovarian serous cystadenocarcinoma(155;6.8e-11)		GAACCCAACAGATTTGGTTTG	0.408000														113			62		0	0	1	0	0
PCDHB5	26167	broad.mit.edu	37	5	140516912	140516912	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140516912C>T	uc003liq.3	+	0	2113	c.1896C>T	c.(1894-1896)cgC>cgT	p.R632R		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	Homo sapiens protocadherin beta 5 (PCDHB5), mRNA.	632	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGAGCGAGCGCGACGCGGCCA	0.692000														24			32		0	0	1	0	0
HIVEP2	3097	broad.mit.edu	37	6	143091681	143091681	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:143091681C>T	uc003qjd.3	-	4	4938	c.4195G>A	c.(4195-4197)Gcg>Acg	p.A1399T		NM_006734	NP_006725	P31629	ZEP2_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 2 (HIVEP2), mRNA.	1399					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		TCCAAGCCCGCATGCTGCCCC	0.527000														28			14		0	0	1	0	0
CUX1	1523	broad.mit.edu	37	7	101845057	101845057	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:101845057C>T	uc003uys.4	+	17	2640	c.2513C>T	c.(2512-2514)gCg>gTg	p.A838V	CUX1_uc003uyw.3_Intron|CUX1_uc003uyv.3_Intron|CUX1_uc003uyt.3_Intron|CUX1_uc003uyu.3_Intron|CUX1_uc011kkn.2_Intron|CUX1_uc003uyx.4_Missense_Mutation_p.A827V	NM_001202543	NP_001189472	P39880	CUX1_HUMAN	Homo sapiens cut-like homeobox 1 (CUX1), transcript variant 4, mRNA.	827					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						TGGTGGAGCGCGGTGCAGCCG	0.662000														18			18		0	0	1	0	0
SLC36A4	120103	broad.mit.edu	37	11	92881927	92881927	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:92881927G>T	uc001pdn.3	-	10	1388	c.1291C>A	c.(1291-1293)Ctg>Atg	p.L431M	AK093898_uc001pdl.1_5'Flank|SLC36A4_uc001pdm.3_Missense_Mutation_p.L296M	NM_152313	NP_689526	Q6YBV0	S36A4_HUMAN	Homo sapiens solute carrier family 36 (proton/amino acid symporter), member 4 (SLC36A4), mRNA.	431					L-alanine transport|proline transport|tryptophan transport	integral to membrane	symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	25		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				AAAGGTGGCAGGATTAGGGCC	0.393000														52			7		0.0477658	0.0485825	1	1	0
AHDC1	27245	broad.mit.edu	37	1	27875328	27875328	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:27875328C>T	uc021ojw.1	-	0	3299	c.3299G>A	c.(3298-3300)cGg>cAg	p.R1100Q	AHDC1_uc009vsy.3_Missense_Mutation_p.R1100Q|AHDC1_uc009vsz.1_Missense_Mutation_p.R1100Q	NM_001029882	NP_001025053	Q5TGY3	AHDC1_HUMAN	Homo sapiens AT hook, DNA binding motif, containing 1 (AHDC1), mRNA.	1100							DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		CGCAAACTGCCGACAGTTCTC	0.627000														25			16		0	0	1	0	0
ZNF845	91664	broad.mit.edu	37	19	53856014	53856014	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:53856014T>G	uc010ydv.1	+	3	2203	c.2086T>G	c.(2086-2088)Tgt>Ggt	p.C696G	ZNF845_uc010ydw.1_Missense_Mutation_p.C696G	NM_138374	NP_612383	Q96IR2	ZN845_HUMAN	Homo sapiens zinc finger protein 845 (ZNF845), mRNA.	696				Missing (in Ref. 1; BAG58121).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						GTGTAATGAGTGTGGCAAGAC	0.428000														97			9		0	0	1	0	0
FRMD6	122786	broad.mit.edu	37	14	52188733	52188733	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:52188733G>A	uc001wzd.3	+	11	1712	c.1427G>A	c.(1426-1428)aGc>aAc	p.S476N	FRMD6_uc001wzb.3_Missense_Mutation_p.S468N|FRMD6_uc001wzc.3_Missense_Mutation_p.S468N|FRMD6_uc001wze.3_Missense_Mutation_p.S399N|FRMD6_uc001wzf.3_Missense_Mutation_p.S169N|FRMD6_uc001wzg.3_Missense_Mutation_p.S118N|U6_uc021rtd.1_5'Flank	NM_152330	NP_689543	Q96NE9	FRMD6_HUMAN	Homo sapiens FERM domain containing 6 (FRMD6), transcript variant 2, mRNA.	476						cytoskeleton|mitochondrion|plasma membrane	binding			breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_epithelial(31;0.0163)|Breast(41;0.089)					CTGGAAGTCAGCCCAGACATG	0.468000														71			18		0	0	1	0	0
ST3GAL3	6487	broad.mit.edu	37	1	44290430	44290430	+	Silent	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:44290430T>G	uc001ckb.3	+	4	459	c.282T>G	c.(280-282)gtT>gtG	p.V94V	ST3GAL3_uc009vwu.1_Intron|ST3GAL3_uc010okj.1_Intron|ST3GAL3_uc001cjz.3_Intron|ST3GAL3_uc001cka.3_Intron|ST3GAL3_uc001ckc.3_Intron|ST3GAL3_uc001ckd.3_Silent_p.V79V|ST3GAL3_uc001cke.3_Intron|ST3GAL3_uc001ckf.3_Silent_p.V63V|ST3GAL3_uc001ckg.3_Intron|ST3GAL3_uc001ckh.3_Intron|ST3GAL3_uc001cki.3_Intron|ST3GAL3_uc009vwx.3_Intron|ST3GAL3_uc009vwz.3_Intron|ST3GAL3_uc001ckm.3_Intron|ST3GAL3_uc001ckn.3_Intron|ST3GAL3_uc001cko.3_Intron|ST3GAL3_uc001ckp.3_Intron|ST3GAL3_uc009vxa.3_Intron|ST3GAL3_uc001ckq.3_Intron|ST3GAL3_uc001ckr.3_Intron|ST3GAL3_uc009vxb.3_Intron|ST3GAL3_uc009vwv.3_Intron|ST3GAL3_uc001ckj.3_Intron|ST3GAL3_uc009vww.3_Intron|ST3GAL3_uc001ckk.3_Intron|ST3GAL3_uc009vwy.3_Intron|ST3GAL3_uc001ckl.3_Intron	NM_174963	NP_777623	Q11203	SIAT6_HUMAN	Homo sapiens ST3 beta-galactoside alpha-2,3-sialyltransferase 3 (ST3GAL3), transcript variant 1, mRNA.	76				L -> S (in Ref. 3; AAO38810).	protein glycosylation	Golgi cisterna membrane|extracellular region|integral to Golgi membrane	N-acetyllactosaminide alpha-2,3-sialyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(3)|skin(1)	19	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0518)				GCAcggtggtttttggccttg	0.458000														48			25		0	0	1	0	0
MYO7A	4647	broad.mit.edu	37	11	76868017	76868017	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:76868017G>T	uc001oyb.2	+	6	974	c.702G>T	c.(700-702)caG>caT	p.Q234H	MYO7A_uc010rsl.2_Missense_Mutation_p.Q234H|MYO7A_uc010rsm.1_Missense_Mutation_p.Q223H|MYO7A_uc001oyc.2_Missense_Mutation_p.Q234H	NM_000260	NP_000251	Q13402	MYO7A_HUMAN	Homo sapiens myosin VIIA (MYO7A), transcript variant 1, mRNA.	234	Myosin head-like.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	ATP binding|actin binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						AGATTGAGCAGTACCTGCTGG	0.597000														58			25		7.92952e-12	9.72855e-12	1	1	0
ADAMTSL3	57188	broad.mit.edu	37	15	84657498	84657498	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:84657498C>T	uc002bjz.4	+	21	3996	c.3772C>T	c.(3772-3774)Caa>Taa	p.Q1258*	ADAMTSL3_uc010bmt.1_Nonsense_Mutation_p.Q1258*	NM_207517	NP_997400	P82987	ATL3_HUMAN	Homo sapiens ADAMTS-like 3 (ADAMTSL3), mRNA.	1258	Ig-like C2-type 2.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			AAGGAAAGAACAAGGCATATA	0.363000														58			7		0	0	1	0	0
PLEKHG5	57449	broad.mit.edu	37	1	6532586	6532586	+	Splice_Site	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:6532586C>T	uc001anp.1	-	11	1809	c.1311_splice	c.e11+1	p.N437_splice	PLEKHG5_uc001ann.1_Splice_Site_p.N397_splice|PLEKHG5_uc001ano.1_Splice_Site_p.N416_splice|PLEKHG5_uc001anq.1_Splice_Site_p.N437_splice|PLEKHG5_uc001anj.1_5'Flank|PLEKHG5_uc009vma.1_Splice_Site_p.N200_splice|PLEKHG5_uc010nzr.1_Splice_Site_p.N429_splice|PLEKHG5_uc001ank.1_Splice_Site_p.N360_splice|PLEKHG5_uc009vmb.1_Splice_Site_p.N360_splice|PLEKHG5_uc001anl.1_Splice_Site_p.N360_splice|PLEKHG5_uc001anm.1_Splice_Site_p.N360_splice	NM_198681	NP_065682	O94827	PKHG5_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 5 (PLEKHG5), transcript variant 2, mRNA.	416	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		CCCCTACTCACGTTGATGATC	0.642000														17			3		0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139158255	139158255	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:139158255C>T	uc003yuy.3	-	14	3658	c.3487G>A	c.(3487-3489)Gaa>Aaa	p.E1163K	FAM135B_uc003yux.3_Missense_Mutation_p.E1064K|FAM135B_uc003yuz.3_Non-coding_Transcript|FAM135B_uc003yva.3_Missense_Mutation_p.E725K|FAM135B_uc003yvb.3_Missense_Mutation_p.R690K	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	1163								p.E1163*(6)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			AGCCCCAGTTCTATGAAAGTC	0.448000										HNSCC(54;0.14)				49			28		0	0	1	0	0
HEATR5B	54497	broad.mit.edu	37	2	37297471	37297471	+	Nonsense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:37297471C>A	uc002rpp.1	-	6	925	c.829G>T	c.(829-831)Gga>Tga	p.G277*		NM_019024	NP_061897	Q9P2D3	HTR5B_HUMAN	Homo sapiens HEAT repeat containing 5B (HEATR5B), mRNA.	277							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				CGCAGAAATCCTGTGGCCATG	0.403000														112			14		1.49906e-05	1.66078e-05	1	1	0
DDX19B	11269	broad.mit.edu	37	16	70349948	70349948	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:70349948C>T	uc002eyo.3	+	3	366	c.237C>T	c.(235-237)gtC>gtT	p.V79V	DDX19B_uc002eys.3_Silent_p.V79V|DDX19B_uc010vlv.2_Silent_p.V84V|DDX19B_uc010vlw.2_5'UTR|DDX19B_uc002eyp.3_Silent_p.V79V|DDX19B_uc002eyq.3_5'UTR|DDX19B_uc010vlx.2_5'UTR|LOC100506083_uc002eyt.3_Non-coding_Transcript	NM_007242	NP_001014449	Q9UMR2	DD19B_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-As) box polypeptide 19B (DDX19B), transcript variant 1, mRNA.	79					mRNA export from nucleus|protein transport|transmembrane transport	cytoplasm|nuclear membrane|nuclear pore	ATP binding|ATP-dependent helicase activity|RNA binding|protein binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)	9		Ovarian(137;0.0694)				AAGTGGAAGTCCTGCAGCGGG	0.473000														188			83		0	0	1	0	0
MED13L	23389	broad.mit.edu	37	12	116421083	116421083	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:116421083C>A	uc001tvw.3	-	20	4849	c.4794G>T	c.(4792-4794)caG>caT	p.Q1598H		NM_015335	NP_056150	Q71F56	MD13L_HUMAN	Homo sapiens mediator complex subunit 13-like (MED13L), mRNA.	1598	Ser-rich.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		TAGTGCTTATCTGGCTAATAC	0.517000														36			5		0.184627	0.186034	1	1	0
SUMF2	25870	broad.mit.edu	37	7	56145875	56145875	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:56145875C>T	uc011kcw.2	+	6	760	c.729C>T	c.(727-729)aaC>aaT	p.N243N	PSPH_uc003trj.3_Intron|SUMF2_uc011kcv.2_Non-coding_Transcript|SUMF2_uc003trt.3_Silent_p.N136N|SUMF2_uc003trv.3_Silent_p.N243N|SUMF2_uc011kcy.2_Silent_p.N228N|SUMF2_uc011kcz.2_Silent_p.N159N|SUMF2_uc003trx.3_Non-coding_Transcript|SUMF2_uc011kda.2_Missense_Mutation_p.T8I|SUMF2_uc011kcx.2_Silent_p.N174N	NM_015411	NP_001139805	Q8NBJ7	SUMF2_HUMAN	Homo sapiens sulfatase modifying factor 2 (SUMF2), transcript variant 2, mRNA.	224						endoplasmic reticulum lumen	metal ion binding			breast(2)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	14	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CCCAGAACAACTACGGTAAGA	0.567000														55			38		0	0	1	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72128039	72128039	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:72128039C>T	uc001xms.3	+	6	2471	c.2110C>T	c.(2110-2112)Cgg>Tgg	p.R704W	SIPA1L1_uc001xmt.3_Missense_Mutation_p.R704W|SIPA1L1_uc001xmu.3_Missense_Mutation_p.R704W|SIPA1L1_uc001xmv.3_Missense_Mutation_p.R704W|SIPA1L1_uc010ttm.2_Missense_Mutation_p.R179W	NM_015556	NP_056371	O43166	SI1L1_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 1 (SIPA1L1), mRNA.	704	Rap-GAP.				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		CCTGAGGAAGCGGCACATTGG	0.423000														29			14		0	0	1	0	0
NR5A1	2516	broad.mit.edu	37	9	127245118	127245118	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:127245118C>A	uc004boo.1	-	6	1492	c.1305G>T	c.(1303-1305)gaG>gaT	p.E435D	NR5A1_uc022bnh.1_Missense_Mutation_p.E395D	NM_004959	NP_004950	Q13285	STF1_HUMAN	Homo sapiens nuclear receptor subfamily 5, group A, member 1 (NR5A1), mRNA.	435	Important for dimerization.				cell-cell signaling|male gonad development|positive regulation of transcription from RNA polymerase II promoter|primary sex determination|regulation of steroid biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|phospholipid binding|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			lung(1)|upper_aerodigestive_tract(1)	2						GGTACAGGTACTCCTTGGCCT	0.627000														9			5		0.0215528	0.0220531	1	1	0
CPSF4	10898	broad.mit.edu	37	7	99042455	99042455	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:99042455C>T	uc003uqj.3	+	1	290	c.147C>T	c.(145-147)tgC>tgT	p.C49C	ATP5J2-PTCD1_uc011kiw.2_Intron|CPSF4_uc003uqi.3_Silent_p.C49C|CPSF4_uc003uqk.3_Silent_p.C49C|CPSF4_uc011kix.2_5'UTR	NM_006693	NP_006684	O95639	CPSF4_HUMAN	Homo sapiens cleavage and polyadenylation specific factor 4, 30kDa (CPSF4), transcript variant 1, mRNA.	49					mRNA processing|modification by virus of host mRNA processing|viral infectious cycle	mRNA cleavage and polyadenylation specificity factor complex	RNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(5)	14	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					AAGCTGCCTGCGGCAAAGGTA	0.547000														239			61		0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124268500	124268500	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:124268500G>T	uc001uft.4	+	7	848	c.823G>T	c.(823-825)Ggc>Tgc	p.G275C		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	275	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.R275R(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TCAGGGTAAAGGCCCTCTGGC	0.438000														21			11		1.11149e-13	1.38511e-13	1	1	0
TMEM194A	23306	broad.mit.edu	37	12	57457058	57457058	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57457058C>T	uc001smy.3	-	6	870	c.824G>A	c.(823-825)cGa>cAa	p.R275Q	TMEM194A_uc001smx.3_Missense_Mutation_p.R202Q|TMEM194A_uc010sra.2_Missense_Mutation_p.R16Q	NM_001130963	NP_001124435	O14524	T194A_HUMAN	Homo sapiens transmembrane protein 194A (TMEM194A), transcript variant 1, mRNA.	275						integral to membrane				endometrium(3)|large_intestine(3)|lung(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						GTTGATACTTCGTTCATTCTC	0.428000														51			34		0	0	1	0	0
MAST2	23139	broad.mit.edu	37	1	46295224	46295224	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:46295224C>T	uc001cov.3	+	2	722	c.439C>T	c.(439-441)Cag>Tag	p.Q147*	MAST2_uc001cow.3_Nonsense_Mutation_p.Q147*	NM_015112	NP_055927	Q6P0Q8	MAST2_HUMAN	Homo sapiens microtubule associated serine/threonine kinase 2 (MAST2), mRNA.	147					regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity			breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					GTCCCTTGGACAGTCTGCACC	0.458000														56			6		0	0	1	0	0
SLC35G5	83650	broad.mit.edu	37	8	11189077	11189077	+	Silent	SNP	C	T	T	rs143735406	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:11189077C>T	uc003wtp.1	+	0	583	c.462C>T	c.(460-462)ctC>ctT	p.L154L		NM_054028	NP_473369	Q96KT7	AMCL2_HUMAN	Homo sapiens solute carrier family 35, member G5 (SLC35G5), mRNA.	154	DUF6 1.					integral to membrane											GCCAGGGTCTCGGTGGCTACG	0.587000														105			73		0	0	1	0	0
PWP1	11137	broad.mit.edu	37	12	108102955	108102955	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:108102955C>A	uc001tmo.1	+	12	1323	c.1236C>A	c.(1234-1236)atC>atA	p.I412I		NM_007062	NP_008993	Q13610	PWP1_HUMAN	Homo sapiens PWP1 homolog (S. cerevisiae) (PWP1), mRNA.	412					transcription, DNA-dependent	nucleus				breast(3)|endometrium(4)|kidney(1)|large_intestine(8)|lung(6)|urinary_tract(1)	23						ACGTGAAGATCTGGGACATCT	0.398000														125			7		0.00198382	0.00208369	1	1	0
ARHGAP31	57514	broad.mit.edu	37	3	119134498	119134498	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:119134498G>A	uc003ecj.4	+	11	4254	c.3722G>A	c.(3721-3723)gGg>gAg	p.G1241E		NM_020754	NP_065805	Q2M1Z3	RHG31_HUMAN	Homo sapiens Rho GTPase activating protein 31 (ARHGAP31), mRNA.	1241					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						TCAACCAGTGGGACCACTCAG	0.562000														18			11		0	0	1	0	0
LOC283922	283922	broad.mit.edu	37	16	74372701	74372701	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:74372701C>A	uc002fcr.2	-	8	1604	c.258G>T	c.(256-258)caG>caT	p.Q86H	LOC283922_uc010vms.1_Non-coding_Transcript					Homo sapiens pyruvate dehydrogenase phosphatase regulatory subunit pseudogene (LOC283922), non-coding RNA.																		ACCTGGCTCCCTGTGCATCCA	0.488000														25			18		2.94398e-08	3.4452e-08	1	1	0
KIF27	55582	broad.mit.edu	37	9	86518586	86518586	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:86518586C>T	uc004ana.3	-	3	991	c.847G>A	c.(847-849)Gac>Aac	p.D283N	KIF27_uc010mpw.3_Missense_Mutation_p.D283N|KIF27_uc010mpx.3_Missense_Mutation_p.D283N	NM_017576	NP_060046	Q86VH2	KIF27_HUMAN	Homo sapiens kinesin family member 27 (KIF27), mRNA.	283					cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						CTGCGTGGGTCCCCAAGAGCG	0.438000														34			25		0	0	1	0	0
COL4A2	1284	broad.mit.edu	37	13	111134925	111134925	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:111134925G>A	uc001vqx.3	+	31	3110	c.2821G>A	c.(2821-2823)Ggg>Agg	p.G941R		NM_001846	NP_001837	P08572	CO4A2_HUMAN	Homo sapiens collagen, type IV, alpha 2 (COL4A2), mRNA.	941	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			AGGGAGACCCGGGTTTCCAGG	0.517000														68			39		0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228509366	228509366	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:228509366C>T	uc009xez.1	+	54	14868	c.14824C>T	c.(14824-14826)Cgg>Tgg	p.R4942W	OBSCN_uc001hsn.3_Missense_Mutation_p.R4942W	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	4942	Ig-like 48.				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	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase 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)				GACCGATGGGCGGCACCATCA	0.637000														35			28		0	0	1	0	0
HIVEP3	59269	broad.mit.edu	37	1	42047197	42047197	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:42047197G>A	uc001cgz.4	-	3	4485	c.3272C>T	c.(3271-3273)gCg>gTg	p.A1091V	HIVEP3_uc001cha.4_Missense_Mutation_p.A1091V|HIVEP3_uc001cgy.3_Non-coding_Transcript	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 3 (HIVEP3), transcript variant 1, mRNA.	1091					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				TGAGGTGGCCGCAGAGGAAAT	0.607000														33			29		0	0	1	0	0
RAP1GAP	5909	broad.mit.edu	37	1	21937987	21937987	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:21937987G>A	uc001bev.3	-	9	819	c.801C>T	c.(799-801)caC>caT	p.H267H	RAP1GAP_uc001bew.3_Silent_p.H331H|RAP1GAP_uc001bey.3_Silent_p.H267H|RAP1GAP_uc001bex.3_Silent_p.H267H	NM_001145657	NP_001139129	P47736	RPGP1_HUMAN	Homo sapiens RAP1 GTPase activating protein (RAP1GAP), transcript variant 2, mRNA.	267	Rap-GAP.				regulation of Ras GTPase activity|signal transduction	Golgi membrane|cytosol|membrane fraction	GTPase activator activity|GTPase activity|Ras GTPase binding|protein homodimerization activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)		TGGTGGACACGTGAAACATGA	0.642000														20			19		0	0	1	0	0
THOC2	57187	broad.mit.edu	37	X	122765688	122765688	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:122765688C>T	uc004etu.3	-	21	2364	c.2332G>A	c.(2332-2334)Gtg>Atg	p.V778M	THOC2_uc011muh.1_Missense_Mutation_p.V703M	NM_001081550	NP_001075019	Q8NI27	THOC2_HUMAN	Homo sapiens THO complex 2 (THOC2), mRNA.	778					RNA splicing|intronless viral mRNA export from host nucleus|mRNA processing	THO complex part of transcription export complex	RNA binding|protein binding			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						CCAAACTGCACCAGGGTATCA	0.313000														113			60		0	0	1	0	0
DLG4	1742	broad.mit.edu	37	17	7099810	7099810	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7099810C>T	uc010vtn.2	-	8	1248	c.988G>A	c.(988-990)Gct>Act	p.A330T	DLG4_uc010vtm.2_Non-coding_Transcript|DLG4_uc010cly.3_Missense_Mutation_p.A387T|DLG4_uc002get.4_Missense_Mutation_p.A433T|DLG4_uc010vto.2_Missense_Mutation_p.A430T	NM_001128827	NP_001122299	P78352	DLG4_HUMAN	Homo sapiens discs, large homolog 4 (Drosophila) (DLG4), transcript variant 2, mRNA.	390	PDZ 3.				axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission	cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome	protein C-terminus binding|protein binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18						TTATACTGAGCGATGATCGTG	0.547000														26			15		0	0	1	0	0
GALNT12	79695	broad.mit.edu	37	9	101611353	101611353	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:101611353C>A	uc004ayz.3	+	9	1725	c.1725C>A	c.(1723-1725)ttC>ttA	p.F575L		NM_024642	NP_078918	Q8IXK2	GLT12_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12) (GALNT12), mRNA.	575	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(1)|endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(62;0.0559)				AGAAATGGTTCTTCAAAGAGC	0.498000											OREG0019361	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		29			19		8.00594e-06	8.94864e-06	1	1	0
TTC17	55761	broad.mit.edu	37	11	43465045	43465045	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:43465045C>T	uc001mxi.3	+	16	2492	c.2422C>T	c.(2422-2424)Cgg>Tgg	p.R808W	TTC17_uc001mxh.3_Missense_Mutation_p.R865W|TTC17_uc010rfj.2_Missense_Mutation_p.R808W|TTC17_uc001mxj.3_Missense_Mutation_p.R635W	NM_018259	NP_060729	Q96AE7	TTC17_HUMAN	Homo sapiens tetratricopeptide repeat domain 17 (TTC17), mRNA.	808							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						ACAAGGAATACGGGTGCTGAA	0.498000														40			25		0	0	1	0	0
ITFG1	81533	broad.mit.edu	37	16	47271908	47271908	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:47271908G>T	uc002eet.3	-	12	1401	c.1342C>A	c.(1342-1344)Ctg>Atg	p.L448M	ITFG1_uc010vgg.2_Missense_Mutation_p.L193M|ITFG1_uc010vgh.2_Missense_Mutation_p.L335M	NM_030790	NP_110417	Q8TB96	TIP_HUMAN	Homo sapiens integrin alpha FG-GAP repeat containing 1 (ITFG1), mRNA.	448						extracellular region|integral to membrane				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	19		all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227)				TTAGAACACAGACCACTAAGA	0.274000														7			4		0.000602214	0.000641151	1	1	0
LILRB3	11025	broad.mit.edu	37	19	54723078	54723078	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:54723078G>A	uc010erh.1	-	8	1521	c.1397C>T	c.(1396-1398)tCg>tTg	p.S466L	LILRB3_uc002qee.1_Missense_Mutation_p.S449L|LILRB3_uc002qef.1_Missense_Mutation_p.S449L|LILRB3_uc002qer.1_Non-coding_Transcript|LILRB3_uc002qes.1_Missense_Mutation_p.S449L|LILRB3_uc002qeh.1_Missense_Mutation_p.S449L|LILRB3_uc002qeg.1_Non-coding_Transcript|LILRB3_uc002qei.1_Missense_Mutation_p.S449L|LILRB3_uc002qek.1_Missense_Mutation_p.S449L|LILRB3_uc002qej.1_Non-coding_Transcript|LILRB3_uc002qel.1_Missense_Mutation_p.S449L|LILRB3_uc002qem.1_Non-coding_Transcript|LILRB3_uc002qen.1_Non-coding_Transcript|LILRB3_uc002qeo.1_Missense_Mutation_p.S449L|LILRB3_uc002qep.1_Missense_Mutation_p.S449L|LILRB3_uc002qeq.1_Missense_Mutation_p.S449L	NM_006864	NP_006855	O75022	LIRB3_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3 (LILRB3), transcript variant 2, mRNA.	449					cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity			endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GAAGGCCACCGAGACCCCAAT	0.562000														9			5		0	0	1	0	0
NAV2	89797	broad.mit.edu	37	11	20122653	20122653	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:20122653C>T	uc010rdm.2	+	33	6881	c.6520C>T	c.(6520-6522)Cga>Tga	p.R2174*	NAV2_uc001mpp.3_Nonsense_Mutation_p.R2054*|NAV2_uc001mpr.4_Nonsense_Mutation_p.R2118*|NAV2_uc021qew.1_Nonsense_Mutation_p.R2121*|NAV2_uc009yhx.3_Nonsense_Mutation_p.R1182*|NAV2_uc009yhz.3_Nonsense_Mutation_p.R763*|NAV2_uc001mpu.3_Nonsense_Mutation_p.R556*	NM_001244963	NP_001231892	Q8IVL1	NAV2_HUMAN	Homo sapiens neuron navigator 2 (NAV2), transcript variant 5, mRNA.	2177						nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						TATAGTGCTTCGAGAGGGACG	0.542000														50			36		0	0	1	0	0
C14orf49	161176	broad.mit.edu	37	14	95912288	95912288	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:95912288G>A	uc001yei.4	-	7	1605	c.1590C>T	c.(1588-1590)gaC>gaT	p.D530D	C14orf49_uc010avi.3_Silent_p.D530D|C14orf49_uc001yej.1_Silent_p.D530D	NM_152592	NP_689805	Q6ZMZ3	SYNE3_HUMAN	Homo sapiens chromosome 14 open reading frame 49 (C14orf49), mRNA.	530					cytoskeletal anchoring at nuclear membrane	SUN-KASH complex|integral to membrane|nuclear outer membrane	actin binding			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(27)|prostate(5)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	50		all_cancers(154;0.0937)		COAD - Colon adenocarcinoma(157;0.245)		TATGCAGCAGGTCTCTGTCCC	0.597000														52			54		0	0	1	0	0
CDON	50937	broad.mit.edu	37	11	125889636	125889636	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:125889636G>A	uc009zbw.3	-	3	502	c.374C>T	c.(373-375)aCa>aTa	p.T125I	CDON_uc001qdc.4_Missense_Mutation_p.T125I|CDON_uc001qdd.4_Non-coding_Transcript|CDON_uc009zbx.3_Missense_Mutation_p.T125I	NM_001243597	NP_001230526	Q4KMG0	CDON_HUMAN	Homo sapiens Cdon homolog (mouse) (CDON), transcript variant 1, mRNA.	125	Ig-like C2-type 2.				cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		AACATGCTTTGTGGATGAACC	0.368000														50			22		0	0	1	0	0
PRKCQ	5588	broad.mit.edu	37	10	6520955	6520955	+	Splice_Site	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:6520955T>G	uc001iji.1	-	11	1536	c.1452_splice	c.e11+1	p.K484_splice	PRKCQ_uc001ijj.2_Splice_Site_p.K451_splice|PRKCQ_uc009xim.2_Splice_Site_p.K451_splice|PRKCQ_uc009xin.2_Splice_Site_p.K415_splice|PRKCQ_uc010qax.2_Splice_Site_p.K326_splice	NM_006257	NP_006248	Q04759	KPCT_HUMAN	Homo sapiens protein kinase C, theta (PRKCQ), transcript variant 1, mRNA.	451	Protein kinase.				T cell receptor signaling pathway|axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						AAGCCATACCTTGGTCTGGAA	0.507000														31			18		0	0	1	0	0
IGFL3	388555	broad.mit.edu	37	19	46627142	46627142	+	Splice_Site	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:46627142C>T	uc002pea.1	-	3	375	c.350_splice	c.e3+1	p.R117_splice		NM_207393	NP_997276	Q6UXB1	IGFL3_HUMAN	Homo sapiens IGF-like family member 3 (IGFL3), mRNA.	117						extracellular region	protein binding			endometrium(1)|large_intestine(1)|lung(5)	7		Ovarian(192;0.0175)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00473)|GBM - Glioblastoma multiforme(486;0.0149)|Epithelial(262;0.239)		GGGACCTTTACCTGGTACAGC	0.498000														296			18		0	0	1	0	0
HDAC4	9759	broad.mit.edu	37	2	240061441	240061441	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:240061441C>T	uc002vyk.4	-	8	1709	c.917G>A	c.(916-918)aGc>aAc	p.S306N	HDAC4_uc010fyz.1_Missense_Mutation_p.S301N|HDAC4_uc010zoa.1_Missense_Mutation_p.S301N|HDAC4_uc010fza.2_Missense_Mutation_p.S306N|HDAC4_uc010fyy.3_Missense_Mutation_p.S258N|HDAC4_uc010znz.1_Missense_Mutation_p.S189N|HDAC4_uc010fzb.1_Non-coding_Transcript	NM_006037	NP_006028	P56524	HDAC4_HUMAN	Homo sapiens histone deacetylase 4 (HDAC4), mRNA.	306	Interaction with MEF2A.				B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|potassium ion binding|repressing transcription factor binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		GCTCCCGGAGCTGTTGTTGGG	0.662000														60			33		0	0	1	0	0
B3GNT5	84002	broad.mit.edu	37	3	182987848	182987848	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:182987848G>A	uc003flm.3	+	1	785	c.262G>A	c.(262-264)Gtc>Atc	p.V88I	MCF2L2_uc003fli.1_Intron|MCF2L2_uc003flj.1_Intron|MCF2L2_uc011bqr.1_Intron|B3GNT5_uc003flk.3_Missense_Mutation_p.V88I|B3GNT5_uc003fll.3_Missense_Mutation_p.V88I|B3GNT5_uc021xic.1_Missense_Mutation_p.V88I	NM_032047	NP_114436	Q9BYG0	B3GN5_HUMAN	Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5 (B3GNT5), mRNA.	88					central nervous system development|glycolipid biosynthetic process|protein glycosylation	Golgi membrane|integral to membrane	beta-galactosyl-N-acetylglucosaminylgalactosylglucosyl-ceramide beta-1,3-acetylglucosaminyltransferase activity|galactosyltransferase activity			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8	all_cancers(143;8.52e-13)|Ovarian(172;0.0355)		all cancers(12;4.52e-44)|Epithelial(37;8.82e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			AGCTCAAGACGTCCTCCTTTT	0.443000														58			32		0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152589210	152589210	+	Nonsense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:152589210C>A	uc021zhb.1	-	97	19019	c.18796G>T	c.(18796-18798)Gag>Tag	p.E6266*	SYNE1_uc003qos.4_Nonsense_Mutation_p.E790*|SYNE1_uc003qot.4_Nonsense_Mutation_p.E6195*|SYNE1_uc003qou.4_Nonsense_Mutation_p.E6266*	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	6266					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	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)		CCAGAGGTCTCTGCCGCCGAA	0.438000										HNSCC(10;0.0054)				23			23		1.96895e-08	2.30809e-08	1	1	0
AGAP2	116986	broad.mit.edu	37	12	58128172	58128172	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:58128172T>G	uc001spq.3	-	3	1331	c.1331A>C	c.(1330-1332)aAa>aCa	p.K444T	AGAP2_uc001spp.3_Missense_Mutation_p.K444T|AGAP2_uc001spr.3_Missense_Mutation_p.K108T	NM_001122772	NP_001116244	Q99490	AGAP2_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 2 (AGAP2), transcript variant 1, mRNA.	444	G domain.				axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	mitochondrion|nucleolus	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						CAACATTTCTTTCTTGTACTG	0.542000														43			4		0	0	1	0	0
VPS13D	55187	broad.mit.edu	37	1	12368699	12368699	+	Splice_Site	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:12368699G>A	uc001atv.3	+	27	6791	c.6650_splice	c.e27+1	p.K2217_splice	VPS13D_uc001atw.3_Splice_Site_p.K2217_splice|VPS13D_uc001atx.3_Splice_Site_p.K1405_splice|VPS13D_uc001aty.1_5'Flank	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA.	2217					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		ATTTGGACAAGTGAGTGtttt	0.488000														49			5		0	0	1	0	0
SNAP25	6616	broad.mit.edu	37	20	10273855	10273855	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:10273855C>T	uc002wnq.2	+	4	422	c.210C>T	c.(208-210)gaC>gaT	p.D70D	SNAP25_uc002wnr.2_Intron|SNAP25_uc002wns.2_Silent_p.D7D|SNAP25_uc010gca.2_Intron	NM_130811	NP_570824	P60880	SNP25_HUMAN	Homo sapiens synaptosomal-associated protein, 25kDa (SNAP25), transcript variant 2, mRNA.	70	Interaction with CENPF (By similarity).|t-SNARE coiled-coil homology 1.				energy reserve metabolic process|glutamate secretion|neurotransmitter uptake|synaptic vesicle docking involved in exocytosis	cell junction|growth cone|perinuclear region of cytoplasm|synapse|synaptosome				endometrium(1)|large_intestine(2)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	18					Botulinum Toxin Type A(DB00083)	TCAATAAGGACATGAAAGAAG	0.438000														95			9		0	0	1	0	0
PTBP1	5725	broad.mit.edu	37	19	808591	808591	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:808591G>A	uc002lpr.2	+	11	1320	c.1214G>A	c.(1213-1215)cGc>cAc	p.R405H	PTBP1_uc002lps.2_Missense_Mutation_p.R71H|PTBP1_uc002lpp.2_Missense_Mutation_p.R431H|PTBP1_uc002lpq.2_Missense_Mutation_p.R424H	NM_031991	NP_114368	P26599	PTBP1_HUMAN	Homo sapiens polypyrimidine tract binding protein 1 (PTBP1), transcript variant 3, mRNA.	405	RRM 3.				negative regulation of muscle cell differentiation|nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	mRNA binding|nucleotide binding|poly-pyrimidine tract binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)	19		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AAGCCCATCCGCATCACGCTC	0.692000														3			6		0	0	1	0	0
PDE5A	8654	broad.mit.edu	37	4	120528342	120528342	+	Missense_Mutation	SNP	C	T	T	rs150282561	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:120528342C>T	uc003idh.3	-	1	418	c.263G>A	c.(262-264)cGt>cAt	p.R88H	PDE5A_uc003idf.3_Missense_Mutation_p.R46H|PDE5A_uc003idg.3_Missense_Mutation_p.R36H	NM_001083	NP_246273	O76074	PDE5A_HUMAN	Homo sapiens phosphodiesterase 5A, cGMP-specific (PDE5A), transcript variant 1, mRNA.	88					platelet activation|signal transduction	cytosol	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding			breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	27					Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862)	GTTATCTGCACGAGGACTCTG	0.507000														26			22		0	0	1	0	0
C15orf27	123591	broad.mit.edu	37	15	76430170	76430170	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:76430170C>T	uc002bbq.3	+	2	316	c.161C>T	c.(160-162)gCt>gTt	p.A54V	C15orf27_uc010bkp.3_5'UTR|C15orf27_uc002bbr.3_5'UTR	NM_152335	NP_689548	Q2M3C6	CO027_HUMAN	Homo sapiens chromosome 15 open reading frame 27 (C15orf27), mRNA.	54						integral to membrane				endometrium(1)|large_intestine(1)|lung(10)|pancreas(1)	13						CCCCTGGCTGCTGTCGATCTC	0.522000														79			7		0	0	1	0	0
FADS3	3995	broad.mit.edu	37	11	61646218	61646218	+	Splice_Site	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:61646218C>A	uc001nsm.3	-	4	777	c.624_splice	c.e4+1	p.K208_splice		NM_021727	NP_068373	Q9Y5Q0	FADS3_HUMAN	Homo sapiens fatty acid desaturase 3 (FADS3), mRNA.	208					electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|membrane fraction	heme binding|oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CCACCCTCACCTTTAGCTGCC	0.642000														15			12		3.27435e-08	3.82583e-08	1	1	0
WDSUB1	151525	broad.mit.edu	37	2	160092648	160092648	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:160092648G>A	uc002uaj.4	-	10	1476	c.1327C>T	c.(1327-1329)Cgt>Tgt	p.R443C	WDSUB1_uc002uak.4_Missense_Mutation_p.R443C|WDSUB1_uc002ual.4_Missense_Mutation_p.R443C|WDSUB1_uc010foo.3_Missense_Mutation_p.R351C	NM_152528	NP_689741	Q8N9V3	WSDU1_HUMAN	Homo sapiens WD repeat, sterile alpha motif and U-box domain containing 1 (WDSUB1), transcript variant 3, mRNA.	443	U-box.					ubiquitin ligase complex	ubiquitin-protein ligase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|prostate(1)|stomach(3)	16						GGACTTGTACGTTTCTTTTTG	0.363000														24			15		0	0	1	0	0
DYNC2H1	79659	broad.mit.edu	37	11	103018615	103018615	+	Splice_Site	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:103018615G>T	uc001phn.1	+	19	2962	c.2818_splice	c.e19+1	p.A940_splice	DYNC2H1_uc009yxe.1_Intron|DYNC2H1_uc001pho.2_Splice_Site_p.A940_splice	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	Homo sapiens dynein, cytoplasmic 2, heavy chain 1 (DYNC2H1), transcript variant 2, mRNA.	940	Stem (By similarity).				Golgi organization|cell projection organization|microtubule-based movement|multicellular organismal development	Golgi apparatus|cilium axoneme|dynein complex|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		AGTCCATACAGGGTAAATACA	0.274000														37			5		1.23904e-05	1.3743e-05	1	1	0
ADAMDEC1	27299	broad.mit.edu	37	8	24250788	24250788	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:24250788C>T	uc003xdz.2	+	2	441	c.221C>T	c.(220-222)cCt>cTt	p.P74L	ADAMDEC1_uc010lub.2_5'UTR|ADAMDEC1_uc011lab.1_5'UTR	NM_014479	NP_001138744	O15204	ADEC1_HUMAN	Homo sapiens ADAM-like, decysin 1 (ADAMDEC1), transcript variant 1, mRNA.	74					integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		AGGTATGAACCTGAAGTTCAA	0.284000														36			12		0	0	1	0	0
MPZL3	196264	broad.mit.edu	37	11	118111057	118111057	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:118111057C>A	uc001psm.3	-	1	111	c.109G>T	c.(109-111)Gat>Tat	p.D37Y	MPZL3_uc010rxy.2_Splice_Site_p.D25_splice|MPZL3_uc010rxz.2_Non-coding_Transcript|MPZL3_uc009yzy.3_Intron	NM_198275	NP_938016	Q6UWV2	MPZL3_HUMAN	Homo sapiens myelin protein zero-like 3 (MPZL3), mRNA.	37	Ig-like V-type.				cell adhesion	integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|lung(2)|stomach(2)|upper_aerodigestive_tract(1)	8	all_hematologic(175;0.046)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		ACATGGGCATCTGCACGAATC	0.388000														49			36		2.38352e-08	2.79388e-08	1	1	0
ECT2	1894	broad.mit.edu	37	3	172482124	172482124	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:172482124C>T	uc003fii.2	+	10	1170	c.1032C>T	c.(1030-1032)aaC>aaT	p.N344N	ECT2_uc010hwv.1_Silent_p.N375N|ECT2_uc003fih.2_Silent_p.N343N|ECT2_uc003fij.1_Silent_p.N344N|ECT2_uc003fik.1_Silent_p.N344N|ECT2_uc003fil.1_Silent_p.N375N	NM_018098	NP_060568	Q9H8V3	ECT2_HUMAN	Homo sapiens epithelial cell transforming sequence 2 oncogene (ECT2), mRNA.	344					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			ATACCCCTAACAGCAATCGCA	0.443000														30			23		0	0	1	0	0
ABCC11	85320	broad.mit.edu	37	16	48258282	48258282	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:48258282G>A	uc002eff.1	-	3	804	c.454C>T	c.(454-456)Ctt>Ttt	p.L152F	ABCC11_uc002efg.1_Missense_Mutation_p.L152F|ABCC11_uc002efh.1_Missense_Mutation_p.L152F|ABCC11_uc010vgl.1_Missense_Mutation_p.L152F	NM_033151	NP_149163	Q96J66	ABCCB_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 11 (ABCC11), transcript variant 2, mRNA.	152						integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				ATCACCAGAAGCACTGAAGCT	0.488000														51			16		0	0	1	0	0
UGT2A1	10941	broad.mit.edu	37	4	70460361	70460361	+	Missense_Mutation	SNP	C	T	T	rs148464836	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:70460361C>T	uc011caq.2	-	5	1752	c.1636G>A	c.(1636-1638)Gaa>Aaa	p.E546K	UGT2A1_uc010ihu.3_Missense_Mutation_p.E380K|UGT2A1_uc003hem.4_Missense_Mutation_p.E380K|UGT2A1_uc010ihs.3_Missense_Mutation_p.E389K|UGT2A1_uc021xox.1_Missense_Mutation_p.E345K|UGT2A1_uc010iht.3_Missense_Mutation_p.E336K	NM_001252274	NP_001239203	Q9Y4X1	UD2A1_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus (UGT2A1), transcript variant 2, mRNA.	380					detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						TAAATAGCTTCGTAGATCCCA	0.443000														22			16		0	0	1	0	0
ZC3H13	23091	broad.mit.edu	37	13	46549874	46549874	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:46549874C>A	uc010tfw.1	-	10	2018	c.2012G>T	c.(2011-2013)aGg>aTg	p.R671M	ZC3H13_uc001vas.1_Missense_Mutation_p.R671M|ZC3H13_uc001vat.1_Missense_Mutation_p.R671M	NM_015070	NP_055885	Q5T200	ZC3HD_HUMAN	Homo sapiens zinc finger CCCH-type containing 13 (ZC3H13), mRNA.	671	Arg/Glu-rich.						nucleic acid binding|zinc ion binding			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		TTCATCTCTCCTATCATCCAC	0.502000														39			6		8.12818e-05	8.84769e-05	1	1	0
MINK1	50488	broad.mit.edu	37	17	4799865	4799865	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:4799865G>A	uc010vsl.2	+	29	4001	c.3757G>A	c.(3757-3759)Gag>Aag	p.E1253K	MINK1_uc010vsk.2_Missense_Mutation_p.E1224K|MINK1_uc010vsm.2_Missense_Mutation_p.E1233K|MINK1_uc010vsn.2_Missense_Mutation_p.E1216K|MINK1_uc010vso.2_Missense_Mutation_p.E1161K|MINK1_uc010vsp.2_Missense_Mutation_p.E714K	NM_153827	NP_722549	Q8N4C8	MINK1_HUMAN	Homo sapiens misshapen-like kinase 1 (MINK1), transcript variant 3, mRNA.	1253	CNH.|Mediates interaction with RAP2A.				JNK cascade	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						GCAGTGGGGGGAGATGCCTAC	0.637000														32			17		0	0	1	0	0
CAPSL	133690	broad.mit.edu	37	5	35921206	35921206	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:35921206C>T	uc003jjt.1	-	1	112	c.17G>A	c.(16-18)cGc>cAc	p.R6H	CAPSL_uc003jju.1_Missense_Mutation_p.R6H	NM_001042625	NP_653248	Q8WWF8	CAPSL_HUMAN	Homo sapiens calcyphosine-like (CAPSL), transcript variant 2, mRNA.	6						cytoplasm	calcium ion binding			central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(10)|skin(1)|urinary_tract(1)	19	all_lung(31;0.000268)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202)			TCGGTCATGGCGCGCTGTCCC	0.612000														18			10		0	0	1	0	0
WFIKKN2	124857	broad.mit.edu	37	17	48918032	48918032	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:48918032C>T	uc002isv.4	+	1	2077	c.1383C>T	c.(1381-1383)agC>agT	p.S461S	WFIKKN2_uc010dbu.3_Silent_p.S368S	NM_175575	NP_783165	Q8TEU8	WFKN2_HUMAN	Homo sapiens WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2 (WFIKKN2), mRNA.	461	NTR.					extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			TCTGTCGCAGCGACTTTGTCA	0.632000														39			5		0	0	1	0	0
CACNA2D1	781	broad.mit.edu	37	7	81746384	81746384	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:81746384T>C	uc003uhr.1	-	5	758	c.502A>G	c.(502-504)Att>Gtt	p.I168V		NM_000722	NP_000713	P54289	CA2D1_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 1 (CACNA2D1), mRNA.	168						voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	TCAGTAGGAATATGGACTGCT	0.418000														76			90		0	0	1	0	0
PPAP2C	8612	broad.mit.edu	37	19	287504	287504	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:287504C>A	uc002loh.3	-	2	618	c.515G>T	c.(514-516)aGg>aTg	p.R172M	PPAP2C_uc002loi.3_Missense_Mutation_p.R151M|PPAP2C_uc002loj.3_Missense_Mutation_p.R95M	NM_177543	NP_803545	O43688	LPP2_HUMAN	Homo sapiens phosphatidic acid phosphatase type 2C (PPAP2C), transcript variant 3, mRNA.	151					sphingolipid metabolic process	integral to membrane|plasma membrane	phosphatidate phosphatase activity|phosphoprotein phosphatase activity|sphingosine-1-phosphate phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(1)|lung(1)|skin(1)	5		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGGTTTCCCCTGCACACCTT	0.597000														94			7		0.00307968	0.00322291	1	1	0
MTMR3	8897	broad.mit.edu	37	22	30416742	30416742	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:30416742C>T	uc003agv.4	+	16	3422	c.3094C>T	c.(3094-3096)Cgt>Tgt	p.R1032C	MTMR3_uc003agu.4_Missense_Mutation_p.R1032C|MTMR3_uc003agw.4_Missense_Mutation_p.R1032C	NM_021090	NP_066576	Q13615	MTMR3_HUMAN	Homo sapiens myotubularin related protein 3 (MTMR3), transcript variant 3, mRNA.	1032					phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			ACAGCGCCTGCGTCAGATTGA	0.572000														18			13		0	0	1	0	0
SNORD113	0	broad.mit.edu	37	14	101396321	101396321	+	RNA	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:101396321G>T	uc021sci.1	+	0		c.66G>T								Rfam model RF00181 hit found at contig region AL132709.5/191680-191609																		gtaactctgaggtccaTTATA	0.338000														100			8		0.000442599	0.000473562	1	1	0
GGT7	2686	broad.mit.edu	37	20	33449298	33449298	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:33449298C>T	uc002xay.3	-	3	668	c.625G>A	c.(625-627)Gca>Aca	p.A209T	GGT7_uc002xaz.1_Missense_Mutation_p.A226T|GGT7_uc002xba.1_Missense_Mutation_p.A209T	NM_178026	NP_821158	Q9UJ14	GGT7_HUMAN	Homo sapiens gamma-glutamyltransferase 7 (GGT7), mRNA.	209					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity			NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	20						GCCCCTGGTGCGGACTCCCGG	0.562000														27			17		0	0	1	0	0
MAPKBP1	23005	broad.mit.edu	37	15	42109134	42109134	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:42109134C>T	uc001zok.4	+	14	1916	c.1630C>T	c.(1630-1632)Cgg>Tgg	p.R544W	MAPKBP1_uc010bci.3_Missense_Mutation_p.R538W|MAPKBP1_uc010udb.2_Missense_Mutation_p.R377W|MAPKBP1_uc001zoj.4_Missense_Mutation_p.R538W|MAPKBP1_uc010bcj.3_Missense_Mutation_p.R45W|MAPKBP1_uc010bck.3_5'UTR|MAPKBP1_uc010bcl.3_Missense_Mutation_p.R45W	NM_001128608	NP_001122080	O60336	MABP1_HUMAN	Homo sapiens mitogen-activated protein kinase binding protein 1 (MAPKBP1), transcript variant 2, mRNA.	544										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		ATCGGCGAGCCGGGACCGGCT	0.582000														64			40		0	0	1	0	0
MS4A6A	64231	broad.mit.edu	37	11	59940569	59940569	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:59940569G>A	uc010rla.2	-	6	1140	c.667C>T	c.(667-669)Ctg>Ttg	p.L223L	MS4A6A_uc001noq.3_Missense_Mutation_p.A160V|MS4A6A_uc009ymv.3_Silent_p.L195L|MS4A6A_uc001not.3_Silent_p.L195L|MS4A6A_uc010rlb.2_Silent_p.L150L	NM_001247999	NP_001234928	Q9H2W1	M4A6A_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 6A (MS4A6A), transcript variant 4, mRNA.	195						integral to membrane	receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CAGAATTCCAGCAGAGTGCAA	0.498000														64			62		0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123846534	123846534	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:123846534C>T	uc001lfv.3	+	3	4879	c.4519C>T	c.(4519-4521)Cgg>Tgg	p.R1507W	TACC2_uc001lfw.3_Intron|TACC2_uc009xzx.3_Missense_Mutation_p.R1507W|TACC2_uc010qtv.2_Missense_Mutation_p.R1507W	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	1507						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				GACCTGGGAGCGGAACTTGCC	0.622000														37			9		0	0	1	0	0
SERPINI1	5274	broad.mit.edu	37	3	167510432	167510432	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:167510432C>T	uc003ffa.4	+	3	734	c.536C>T	c.(535-537)gCc>gTc	p.A179V	SERPINI1_uc003ffb.4_Missense_Mutation_p.A179V	NM_001122752	NP_005016	Q99574	NEUS_HUMAN	Homo sapiens serpin peptidase inhibitor, clade I (neuroserpin), member 1 (SERPINI1), transcript variant 2, mRNA.	179					central nervous system development|peripheral nervous system development|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(7)|skin(2)	20						ACTTATCTGGCCCTCATTAAT	0.368000														52			36		0	0	1	0	0
FAM117A	81558	broad.mit.edu	37	17	47799936	47799936	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:47799936C>T	uc002ipk.3	-	2	456	c.387G>A	c.(385-387)gaG>gaA	p.E129E	FAM117A_uc010wlz.2_5'UTR	NM_030802	NP_110429	Q9C073	F117A_HUMAN	Homo sapiens family with sequence similarity 117, member A (FAM117A), mRNA.	129										haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	17						CACCTTCTAGCTCTTGCCAGG	0.572000														9			11		0	0	1	0	0
TOMM20L	387990	broad.mit.edu	37	14	58869412	58869412	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:58869412G>A	uc001xdr.1	+	2	227	c.195G>A	c.(193-195)acG>acA	p.T65T	TOMM20L_uc010trq.1_Intron	NM_207377	NP_997260	Q6UXN7	TO20L_HUMAN	Homo sapiens translocase of outer mitochondrial membrane 20 homolog (yeast)-like (TOMM20L), nuclear gene encoding mitochondrial protein, mRNA.	65					protein targeting	integral to membrane|mitochondrial outer membrane translocase complex				large_intestine(2)|lung(2)	4						GGGATCCAACGAAGAATAAAA	0.308000														77			38		0	0	1	0	0
PTPN3	5774	broad.mit.edu	37	9	112170621	112170621	+	Silent	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:112170621T>G	uc004bed.2	-	16	1727	c.1615A>C	c.(1615-1617)Agg>Cgg	p.R539R	PTPN3_uc004beb.2_Silent_p.R408R|PTPN3_uc004bec.2_Silent_p.R363R|PTPN3_uc010mtu.2_Non-coding_Transcript|PTPN3_uc011lwg.1_Silent_p.R494R|PTPN3_uc011lwh.1_Silent_p.R385R|PTPN3_uc011lwd.1_Silent_p.R7R|PTPN3_uc011lwe.1_Silent_p.R252R|PTPN3_uc011lwf.1_Silent_p.R207R	NM_002829	NP_001138843	P26045	PTN3_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 3 (PTPN3), transcript variant 1, mRNA.	539	PDZ.				negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						GGGTTTATCCTTGATACCACA	0.338000														65			5		0	0	1	0	0
PPP1R13B	23368	broad.mit.edu	37	14	104205229	104205229	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:104205229G>T	uc001yof.1	-	12	3007	c.2724C>A	c.(2722-2724)atC>atA	p.I908I	PPP1R13B_uc010awv.1_Non-coding_Transcript	NM_015316	NP_056131	Q96KQ4	ASPP1_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 13B (PPP1R13B), mRNA.	908					apoptosis|induction of apoptosis|negative regulation of cell cycle	cytoplasm|nucleus|plasma membrane	protein binding			endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)				TCACCTCATAGATGATCCTCT	0.647000														84			51		1.38658e-30	1.83021e-30	1	1	0
TUBG2	27175	broad.mit.edu	37	17	40811931	40811931	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:40811931G>T	uc010wgr.2	+	1	385	c.129G>T	c.(127-129)gaG>gaT	p.E43D	TUBG2_uc002iap.3_5'UTR	NM_016437	NP_057521	Q9NRH3	TBG2_HUMAN	Homo sapiens tubulin, gamma 2 (TUBG2), mRNA.	43					G2/M transition of mitotic cell cycle|microtubule-based process|protein polymerization	cytosol	GTP binding|GTPase activity|structural molecule activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.141)		TCGCCACCGAGGGCACTGACC	0.662000														46			7		0.000157383	0.000170012	1	1	0
CCNB1IP1	57820	broad.mit.edu	37	14	20784616	20784616	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:20784616C>A	uc021rnp.1	-	4	678	c.67G>T	c.(67-69)Gca>Tca	p.A23S	CCNB1IP1_uc001vwv.3_Missense_Mutation_p.A23S|CCNB1IP1_uc001vwx.3_Missense_Mutation_p.A23S|CCNB1IP1_uc001vwy.3_Missense_Mutation_p.A23S|CCNB1IP1_uc001vwz.3_Missense_Mutation_p.A23S|CCNB1IP1_uc010ahh.1_Non-coding_Transcript	NM_182852	NP_878272	Q9NPC3	CIP1_HUMAN	Homo sapiens cyclin B1 interacting protein 1, E3 ubiquitin protein ligase (CCNB1IP1), transcript variant 4, mRNA.	23						chromosome|nucleus	ligase activity|metal ion binding|protein binding		HMGA2/CCNB1IP1(2)	breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	9	all_cancers(95;0.00092)	all_lung(585;0.235)	Epithelial(56;8.86e-07)|all cancers(55;4.98e-06)	GBM - Glioblastoma multiforme(265;0.0164)		GTGACCCATGCATAGCCAGAG	0.473000			T	HMGA2	leiomyoma									66			5		0.0215528	0.0220531	1	1	0
AKAP8	10270	broad.mit.edu	37	19	15484809	15484809	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:15484809G>A	uc002nav.3	-	3	229	c.159C>T	c.(157-159)taC>taT	p.Y53Y	AKAP8_uc010dzy.3_5'Flank|AKAP8_uc010dzz.1_Non-coding_Transcript|AKAP8_uc010xog.2_Intron	NM_005858	NP_005849	O43823	AKAP8_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 8 (AKAP8), mRNA.	53					signal transduction	nuclear matrix				breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)	26						AGGCTGGGCCGTAGCTGTAGG	0.622000														35			15		0	0	1	0	0
GPNMB	10457	broad.mit.edu	37	7	23309606	23309606	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:23309606C>T	uc003swc.3	+	8	1438	c.1277C>T	c.(1276-1278)aCc>aTc	p.T426I	GPNMB_uc003swb.3_Missense_Mutation_p.T414I|GPNMB_uc011jyy.2_Missense_Mutation_p.T368I|GPNMB_uc011jyz.2_Missense_Mutation_p.T315I	NM_001005340	NP_001005340	Q14956	GPNMB_HUMAN	Homo sapiens glycoprotein (transmembrane) nmb (GPNMB), transcript variant 1, mRNA.	426					negative regulation of cell proliferation	melanosome				breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2)	41			GBM - Glioblastoma multiforme(13;0.154)			GAGGTCTGTACCATCATTTCT	0.557000														135			8		0	0	1	0	0
CRISPLD1	83690	broad.mit.edu	37	8	75929589	75929589	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:75929589G>T	uc003yan.3	+	9	1541	c.1031G>T	c.(1030-1032)gGt>gTt	p.G344V	CRISPLD1_uc011lfk.2_Missense_Mutation_p.G156V|CRISPLD1_uc011lfl.2_Missense_Mutation_p.G156V	NM_031461	NP_113649	Q9H336	CRLD1_HUMAN	Homo sapiens cysteine-rich secretory protein LCCL domain containing 1 (CRISPLD1), mRNA.	344	LCCL 1.					extracellular region		p.G344S(1)		biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(64;0.0799)		Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161)			ATTCATTATGGTATAATAGAC	0.343000														76			43		1.02591e-13	1.27874e-13	1	1	0
ST18	9705	broad.mit.edu	37	8	53084774	53084774	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:53084774G>T	uc003xqz.2	-	4	803	c.647C>A	c.(646-648)cCt>cAt	p.P216H	ST18_uc011ldq.1_5'UTR|ST18_uc011ldr.1_Missense_Mutation_p.P181H|ST18_uc011lds.1_Missense_Mutation_p.P121H|ST18_uc003xra.2_Missense_Mutation_p.P216H|ST18_uc003xrb.2_Missense_Mutation_p.P216H	NM_014682	NP_055497	O60284	ST18_HUMAN	Homo sapiens suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) (ST18), mRNA.	216						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TGGGACTCTAGGTGGTTTGGT	0.413000														47			19		7.07596e-05	7.73367e-05	1	1	0
PRPF8	10594	broad.mit.edu	37	17	1558720	1558720	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:1558720G>T	uc002fte.3	-	36	6025	c.5911C>A	c.(5911-5913)Ctg>Atg	p.L1971M		NM_006445	NP_006436	Q6P2Q9	PRP8_HUMAN	Homo sapiens PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae) (PRPF8), mRNA.	1971	Involved in interaction with pre-mRNA 5' splice site.					U5 snRNP|catalytic step 2 spliceosome|nuclear speck	RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		TCGTCAGTCAGAGTGGGCCAG	0.507000														40			21		2.4624e-09	2.92908e-09	1	1	0
SLC4A11	83959	broad.mit.edu	37	20	3209230	3209230	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:3209230G>A	uc010zqe.2	-	17	2570	c.2445C>T	c.(2443-2445)ttC>ttT	p.F815F	SLC4A11_uc002wig.3_Silent_p.F788F|SLC4A11_uc002wih.3_Non-coding_Transcript|SLC4A11_uc010zqf.2_Silent_p.F772F	NM_001174090	NP_001167561	Q8NBS3	S4A11_HUMAN	Homo sapiens solute carrier family 4, sodium borate transporter, member 11 (SLC4A11), transcript variant 1, mRNA.	788	Membrane (bicarbonate transporter).				cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						CGATGTAGAGGAAGAGGCCAT	0.677000														38			18		0	0	1	0	0
PDZD2	23037	broad.mit.edu	37	5	32091031	32091031	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:32091031C>A	uc003jhl.3	+	19	7865	c.7477C>A	c.(7477-7479)Ctt>Att	p.L2493I	PDZD2_uc003jhm.3_Missense_Mutation_p.L2493I	NM_178140	NP_835260	O15018	PDZD2_HUMAN	Homo sapiens PDZ domain containing 2 (PDZD2), mRNA.	2493		Cleavage; by caspases (By similarity).			cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CATGCCTGACCTTGACAAGCT	0.612000														56			15		0.00244969	0.00257145	1	1	0
SLC12A2	6558	broad.mit.edu	37	5	127466839	127466839	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:127466839G>A	uc003kus.3	+	4	1293	c.1129G>A	c.(1129-1131)Gct>Act	p.A377T	SLC12A2_uc010jdf.3_Non-coding_Transcript|SLC12A2_uc010jdg.3_Missense_Mutation_p.A377T	NM_001046	NP_001037	P55011	S12A2_HUMAN	Homo sapiens solute carrier family 12 (sodium/potassium/chloride transporters), member 2 (SLC12A2), transcript variant 1, mRNA.	377					potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity			breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	CTTTGCCAACGCTGTTGCAGT	0.398000														147			11		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90052921	90052921	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:90052921T>G	uc003kju.3	+	56	11979	c.11883T>G	c.(11881-11883)agT>agG	p.S3961R	GPR98_uc003kjt.3_Missense_Mutation_p.S1667R|GPR98_uc003kjv.3_Missense_Mutation_p.S1561R	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	3961					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CACCAGACAGTGCTGGCCTGG	0.448000														42			14		0	0	1	0	0
ANKRD12	23253	broad.mit.edu	37	18	9263874	9263874	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:9263874C>T	uc002knv.3	+	9	6015	c.5751C>T	c.(5749-5751)caC>caT	p.H1917H	ANKRD12_uc002knw.3_Silent_p.H1894H|ANKRD12_uc002knx.3_Silent_p.H1894H	NM_015208	NP_056023	Q6UB98	ANR12_HUMAN	Homo sapiens ankyrin repeat domain 12 (ANKRD12), transcript variant 1, mRNA.	1917						nucleus				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						GTTTGCAACACAGTATTGAAA	0.308000														19			13		0	0	1	0	0
UBE3A	7337	broad.mit.edu	37	15	25601967	25601967	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:25601967A>G	uc001zaq.3	-	8	2599	c.1839T>C	c.(1837-1839)acT>acC	p.T613T	SNRPN_uc001zae.3_Intron|UBE3A_uc001zar.3_Silent_p.T590T|UBE3A_uc001zas.3_Silent_p.T610T|UBE3A_uc001zat.3_Silent_p.T590T	NM_000462	NP_570853	Q05086	UBE3A_HUMAN	Homo sapiens ubiquitin protein ligase E3A (UBE3A), transcript variant 2, mRNA.	613					brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	38		all_cancers(20;3.47e-21)|Breast(32;0.00123)		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)		TGCCAATCAGAGTAAACTGAC	0.338000														187			128		0	0	1	0	0
GJA8	2703	broad.mit.edu	37	1	147380559	147380559	+	Silent	SNP	C	T	T	rs144568061		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:147380559C>T	uc021ovm.1	+	0	477	c.477C>T	c.(475-477)acC>acT	p.T159T	GJA8_uc001epu.2_Silent_p.T159T	NM_005267	NP_005258	P48165	CXA8_HUMAN	Homo sapiens gap junction protein, alpha 8, 50kDa (GJA8), mRNA.	159					cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity	p.T159I(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					TCTTCAAGACCCTCTTTGAAG	0.597000														77			62		0	0	1	0	0
CNTNAP1	8506	broad.mit.edu	37	17	40840894	40840894	+	Splice_Site	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:40840894G>A	uc002iay.3	+	10	1673	c.1457_splice	c.e10-1	p.G486_splice	CNTNAP1_uc010wgs.2_Splice_Site	NM_003632	NP_003623	P78357	CNTP1_HUMAN	Homo sapiens contactin associated protein 1 (CNTNAP1), mRNA.	486	Laminin G-like 2.				axon guidance|cell adhesion	paranode region of axon	SH3 domain binding|SH3/SH2 adaptor activity|receptor activity|receptor binding			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		GTTGCTCCAGGTTGTCCCAAG	0.602000														50			20		0	0	1	0	0
C21orf91	54149	broad.mit.edu	37	21	19169018	19169018	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:19169018A>G	uc002yko.4	-	2	636	c.545T>C	c.(544-546)tTa>tCa	p.L182S	C21orf91_uc002ykq.4_Missense_Mutation_p.L182S|C21orf91_uc002ykp.4_Missense_Mutation_p.L182S	NM_001100420	NP_001093890	Q9NYK6	EURL_HUMAN	Homo sapiens chromosome 21 open reading frame 91 (C21orf91), transcript variant 1, mRNA.	182										endometrium(2)|large_intestine(2)|lung(4)|ovary(1)	9				Epithelial(23;8.76e-05)|all cancers(11;0.000422)|OV - Ovarian serous cystadenocarcinoma(11;0.0107)|Lung(58;0.0129)|COAD - Colon adenocarcinoma(22;0.0303)|LUSC - Lung squamous cell carcinoma(23;0.0381)|Colorectal(24;0.0929)		GTTACGACATAAAGTGGCACC	0.438000														186			8		0	0	1	0	0
CLTCL1	8218	broad.mit.edu	37	22	19207451	19207451	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:19207451C>T	uc021wle.1	-	17	2937	c.2862G>A	c.(2860-2862)gaG>gaA	p.E954E	CLTCL1_uc021wld.1_Silent_p.E954E|CLTCL1_uc021wlc.1_Silent_p.E954E|CLTCL1_uc021wlf.1_Silent_p.E954E|CLTCL1_uc011agw.1_Silent_p.E954E	NM_007098	NP_009029	P53675	CLH2_HUMAN	Homo sapiens clathrin, heavy chain-like 1 (CLTCL1), transcript variant 1, mRNA.	954	Heavy chain arm.|Proximal segment.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					GAGCCCAGAGCTCCGGATCCT	0.527000			T	?	ALCL									70			39		0	0	1	0	0
GPR116	221395	broad.mit.edu	37	6	46826266	46826266	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:46826266G>A	uc003oyo.3	-	16	3663	c.3374C>T	c.(3373-3375)tCc>tTc	p.S1125F	GPR116_uc011dwj.1_Missense_Mutation_p.S680F|GPR116_uc011dwk.1_Missense_Mutation_p.S554F|GPR116_uc003oyp.3_Missense_Mutation_p.S983F|GPR116_uc003oyq.3_Missense_Mutation_p.S1125F|GPR116_uc010jzi.1_Missense_Mutation_p.S797F	NM_001098518	NP_056049	Q8IZF2	GP116_HUMAN	Homo sapiens G protein-coupled receptor 116 (GPR116), transcript variant 2, mRNA.	1125					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			TTTCTGAGTGGACCTGCTTGT	0.537000														20			11		0	0	1	0	0
MED4	29079	broad.mit.edu	37	13	48664488	48664488	+	Splice_Site	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:48664488C>A	uc001vby.1	-	2	218	c.192_splice	c.e2+1	p.Q64_splice	MED4_uc010tgf.1_Splice_Site_p.Q18_splice	NM_014166	NP_054885	Q9NPJ6	MED4_HUMAN	Homo sapiens mediator complex subunit 4 (MED4), mRNA.	64					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)	8		all_cancers(8;2.93e-25)|all_epithelial(8;4.38e-13)|all_lung(13;7.37e-06)|all_hematologic(8;8.61e-05)|Breast(56;0.000141)|Lung NSC(96;0.000518)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.00559)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;5.18e-07)		AGCCACTTACCTGGTTTTCCT	0.294000														181			11		0.000673444	0.000715966	1	1	0
ZNF238	10472	broad.mit.edu	37	1	244218516	244218516	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:244218516C>T	uc001iad.4	+	1	1613	c.1440C>T	c.(1438-1440)tgC>tgT	p.C480C	ZNF238_uc001iae.3_Silent_p.C471C|ZNF238_uc001iaf.1_3'UTR	NM_205768	NP_006343	Q99592	ZN238_HUMAN	Homo sapiens zinc finger protein 238 (ZNF238), transcript variant 1, mRNA.	471					negative regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.C471C(1)		NS(1)|breast(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(5)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38	all_cancers(71;6.42e-05)|all_epithelial(71;7e-05)|Breast(184;0.0333)|Ovarian(71;0.0619)|all_lung(81;0.089)|all_neural(11;0.101)|Lung NSC(105;0.123)		all cancers(7;1.35e-08)|GBM - Glioblastoma multiforme(7;1e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00223)			GCAAGTGGTGCGAGCGCAGGT	0.597000														44			23		0	0	1	0	0
RECQL5	9400	broad.mit.edu	37	17	73658586	73658586	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:73658586C>A	uc010dgl.3	-	3	953	c.744G>T	c.(742-744)aaG>aaT	p.K248N	RECQL5_uc010dgk.3_Missense_Mutation_p.K221N|RECQL5_uc002joz.4_Missense_Mutation_p.K248N|RECQL5_uc002jpa.4_Missense_Mutation_p.K248N|RECQL5_uc002jpb.2_Missense_Mutation_p.K248N	NM_004259	NP_004250	O94762	RECQ5_HUMAN	Homo sapiens RecQ protein-like 5 (RECQL5), transcript variant 1, mRNA.	248	Helicase C-terminal.				DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding			breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			GTCCAAGAGCCTTAAGGCAGA	0.512000								Other identified genes with known or suspected DNA repair function						308			24		9.90768e-06	1.10578e-05	1	1	0
MDN1	23195	broad.mit.edu	37	6	90460196	90460196	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:90460196G>T	uc003pnn.1	-	23	3399	c.3283C>A	c.(3283-3285)Cag>Aag	p.Q1095K		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	Homo sapiens MDN1, midasin homolog (yeast) (MDN1), mRNA.	1095					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GCCAGCCACTGGATCAGGCTT	0.423000														260			32		2.87052e-16	3.63568e-16	1	1	0
RELN	5649	broad.mit.edu	37	7	103159852	103159852	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:103159852C>T	uc022ajr.1	-	48	7940	c.7780G>A	c.(7780-7782)Gtt>Att	p.V2594I	RELN_uc022ajq.1_Missense_Mutation_p.V2594I|RELN_uc010liz.3_Missense_Mutation_p.V2594I	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	2594					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TCCAAGAGAACACCTTGGTTA	0.408000														64			21		0	0	1	0	0
DNM1L	10059	broad.mit.edu	37	12	32854484	32854484	+	Nonsense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:32854484G>T	uc010skh.1	+	1	399	c.397G>T	c.(397-399)Gga>Tga	p.G133*	DNM1L_uc010skf.1_Non-coding_Transcript|DNM1L_uc010skg.1_Non-coding_Transcript|DNM1L_uc001rld.2_Nonsense_Mutation_p.G80*|DNM1L_uc001rle.2_Nonsense_Mutation_p.G80*|DNM1L_uc001rlf.2_Nonsense_Mutation_p.G80*|DNM1L_uc001rlg.2_Nonsense_Mutation_p.G133*|DNM1L_uc001rlh.2_Nonsense_Mutation_p.G133*|DNM1L_uc010ski.1_Missense_Mutation_p.Q11H	NM_012062	NP_036192	O00429	DNM1L_HUMAN	Homo sapiens dynamin 1-like (DNM1L), transcript variant 1, mRNA.	80	GTPase domain.				cellular component disassembly involved in apoptosis|mitochondrial fragmentation involved in apoptosis|mitochondrial membrane organization|positive regulation of mitochondrial fission	cis-Golgi network|cytosol|endomembrane system|endoplasmic reticulum|mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	23	Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					GAAAACAACAGGAGAAGAAAA	0.363000														45			15		3.32936e-07	3.81974e-07	1	1	0
FAT4	79633	broad.mit.edu	37	4	126328128	126328128	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:126328128C>T	uc003ifj.4	+	2	5401	c.5401C>T	c.(5401-5403)Cgg>Tgg	p.R1801W	FAT4_uc011cgp.2_Missense_Mutation_p.R99W	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	1801	Cadherin 17.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R1801Q(1)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AGCAACCAGGCGGTTGGACAG	0.458000														73			41		0	0	1	0	0
MAP1B	4131	broad.mit.edu	37	5	71491726	71491726	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:71491726C>T	uc003kbw.4	+	4	2785	c.2544C>T	c.(2542-2544)gtC>gtT	p.V848V	MAP1B_uc010iyw.1_Silent_p.V865V|MAP1B_uc010iyx.1_Silent_p.V722V|MAP1B_uc010iyy.1_Silent_p.V722V	NM_005909	NP_005900	P46821	MAP1B_HUMAN	Homo sapiens microtubule-associated protein 1B (MAP1B), mRNA.	848						microtubule|microtubule associated complex	structural molecule activity	p.E847*(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		CTGAAGAGGTCGATGTAACAA	0.488000														78			49		0	0	1	0	0
HDAC9	9734	broad.mit.edu	37	7	18625144	18625144	+	Splice_Site	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:18625144A>C	uc003sui.3	+	2	305	c.264_splice	c.e2+1	p.K88_splice	HDAC9_uc003sue.3_Splice_Site_p.K88_splice|HDAC9_uc011jyd.2_Splice_Site_p.K88_splice|HDAC9_uc003suh.3_Splice_Site_p.K88_splice|HDAC9_uc003suj.3_Splice_Site_p.K88_splice|HDAC9_uc011jya.2_Splice_Site_p.K130_splice|HDAC9_uc003sua.1_Splice_Site_p.K107_splice|HDAC9_uc003sud.2_Splice_Site_p.K88_splice|HDAC9_uc011jyc.2_Splice_Site_p.K88_splice|HDAC9_uc011jyb.2_Splice_Site_p.K88_splice|HDAC9_uc003suf.2_Splice_Site_p.K116_splice|HDAC9_uc010kud.2_Splice_Site_p.K88_splice|HDAC9_uc011jye.2_Splice_Site_p.K57_splice|HDAC9_uc011jyf.2_Splice_Site_p.K57_splice	NM_178425	NP_848512	Q9UKV0	HDAC9_HUMAN	Homo sapiens histone deacetylase 9 (HDAC9), transcript variant 5, mRNA.	88					B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	GAGCATATCAAGGTAGCAAAT	0.502000														27			4		0	0	1	0	0
TRPM1	4308	broad.mit.edu	37	15	31323354	31323354	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:31323354C>T	uc021sia.1	-	21	3324	c.3010G>A	c.(3010-3012)Gac>Aac	p.D1004N	TRPM1_uc010azy.3_Missense_Mutation_p.D872N|TRPM1_uc001zfl.3_Intron|TRPM1_uc021shz.1_Missense_Mutation_p.D987N|TRPM1_uc001zfm.3_Missense_Mutation_p.D965N	NM_001252020	NP_001238949	Q7Z4N2	TRPM1_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 1 (TRPM1), transcript variant 1, mRNA.	965					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		TACAGCATGTCGATCATCTGA	0.483000														28			20		0	0	1	0	0
EGLN2	112398	broad.mit.edu	37	19	41307129	41307129	+	Missense_Mutation	SNP	C	T	T	rs140368149		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:41307129C>T	uc010ehd.3	+	7	1700	c.652C>T	c.(652-654)Cgc>Tgc	p.R218C	EGLN2_uc002opg.4_Missense_Mutation_p.R218C|EGLN2_uc002oph.3_Missense_Mutation_p.R218C|EGLN2_uc002opi.3_Missense_Mutation_p.R218C	NM_080732	NP_542770	Q96KS0	EGLN2_HUMAN	Homo sapiens egl nine homolog 2 (C. elegans) (EGLN2), transcript variant 3, mRNA.	218					cell redox homeostasis|estrogen receptor signaling pathway|positive regulation of protein catabolic process|regulation of cell growth|response to hypoxia	cytoplasm|nucleus	L-ascorbic acid binding|ferrous iron binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|oxygen sensor activity			breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Vitamin C(DB00126)	ACGGGGTGGGCGCCTGCGAGA	0.682000														47			25		0	0	1	0	0
ZNF512	84450	broad.mit.edu	37	2	27844111	27844111	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:27844111A>G	uc002rla.3	+	13	1574	c.1487A>G	c.(1486-1488)cAg>cGg	p.Q496R	ZNF512_uc010ylw.2_Missense_Mutation_p.Q467R|ZNF512_uc002rlb.3_Missense_Mutation_p.Q417R|ZNF512_uc010ylx.2_Missense_Mutation_p.Q417R|ZNF512_uc002rlc.3_Missense_Mutation_p.Q417R|ZNF512_uc010ylv.2_Missense_Mutation_p.Q417R|ZNF512_uc010yly.1_Non-coding_Transcript|ZNF512_uc010ylz.2_Missense_Mutation_p.Q389R	NM_032434	NP_115810	Q96ME7	ZN512_HUMAN	Homo sapiens zinc finger protein 512 (ZNF512), mRNA.	496					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)					AAGCGGAGGCAGCAGCACAGG	0.512000														60			16		0	0	1	0	0
KDM1A	23028	broad.mit.edu	37	1	23381585	23381585	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:23381585G>T	uc001bgi.2	+	4	903	c.754G>T	c.(754-756)Gtt>Ttt	p.V252F	KDM1A_uc001bgj.2_Missense_Mutation_p.V272F	NM_015013	NP_055828	O60341	KDM1A_HUMAN	Homo sapiens lysine (K)-specific demethylase 1A (KDM1A), transcript variant 2, mRNA.	252	SWIRM.				blood coagulation|muscle cell development|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of apoptosis|negative regulation of protein binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin	MyoD binding|androgen receptor binding|chromatin binding|enzyme binding|flavin adenine dinucleotide binding|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H3-dimethyl-K4 specific)|ligand-dependent nuclear receptor transcription coactivator activity|oxidoreductase activity|p53 binding|transcription regulatory region DNA binding			breast(2)|central_nervous_system(2)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						TGTCCACCGAGTTCACAGTTA	0.378000														124			73		9.0989e-53	1.21321e-52	1	1	0
VRK2	7444	broad.mit.edu	37	2	58386604	58386604	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:58386604G>T	uc002rzo.2	+	15	2048	c.1303G>T	c.(1303-1305)Gat>Tat	p.D435Y	VRK2_uc010fcb.2_3'UTR|VRK2_uc002rzt.3_Missense_Mutation_p.D317Y|VRK2_uc002rzs.3_3'UTR|VRK2_uc002rzv.3_Missense_Mutation_p.D435Y|VRK2_uc010fcd.3_Missense_Mutation_p.D412Y|VRK2_uc002rzu.3_3'UTR|VRK2_uc010fcc.3_Missense_Mutation_p.D317Y|VRK2_uc002rzp.3_Missense_Mutation_p.D435Y|VRK2_uc010ypg.2_Missense_Mutation_p.D435Y|FANCL_uc002rzw.4_3'UTR|FANCL_uc002rzx.4_3'UTR|FANCL_uc010fce.3_3'UTR	NM_001130482	NP_001123954	Q86Y07	VRK2_HUMAN	Homo sapiens vaccinia related kinase 2 (VRK2), transcript variant 4, mRNA.	435						integral to membrane	ATP binding|protein binding|protein serine/threonine kinase activity			endometrium(4)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	24						GCCTCATCAAGATTTTACCAG	0.368000														55			8		0.00448238	0.0046769	1	1	0
SMC6	79677	broad.mit.edu	37	2	17902486	17902486	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:17902486G>A	uc002rco.3	-	9	1065	c.769C>T	c.(769-771)Cgt>Tgt	p.R257C	SMC6_uc010exo.3_Missense_Mutation_p.R257C|SMC6_uc002rcn.3_Missense_Mutation_p.R257C|SMC6_uc002rcp.1_Missense_Mutation_p.R283C|SMC6_uc002rcq.2_Missense_Mutation_p.R283C|SMC6_uc002rcr.1_Missense_Mutation_p.R257C	NM_001142286	NP_078900	Q96SB8	SMC6_HUMAN	Homo sapiens structural maintenance of chromosomes 6 (SMC6), transcript variant 1, mRNA.	257					DNA recombination|DNA repair	chromosome|nucleus	ATP binding			NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CTTTGAAAACGTTCCTCTTTC	0.333000														30			27		0	0	1	0	0
ETV7	51513	broad.mit.edu	37	6	36343712	36343712	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:36343712C>A	uc003omb.3	-	2	502	c.243G>T	c.(241-243)gaG>gaT	p.E81D	ETV7_uc003olz.2_Missense_Mutation_p.E81D|ETV7_uc003oma.2_Intron|ETV7_uc003omc.3_Intron|ETV7_uc010jwj.3_Missense_Mutation_p.D9Y|ETV7_uc010jwi.3_Missense_Mutation_p.E81D|ETV7_uc010jwh.3_5'UTR|ETV7_uc011dtl.2_Intron	NM_016135	NP_001193970	Q9Y603	ETV7_HUMAN	Homo sapiens ets variant 7 (ETV7), transcript variant 1, mRNA.	81	PNT.				organ morphogenesis|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(4)	10						GTCCGTTCATCTCGAACCCGT	0.647000														72			12		3.07112e-06	3.45634e-06	1	1	0
PCDHGC5	56097	broad.mit.edu	37	5	140723715	140723715	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140723715C>A	uc003ljm.2	+	0	115	c.115C>A	c.(115-117)Cta>Ata	p.L39I	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc011dap.2_Missense_Mutation_p.L39I	NM_018916	NP_061739	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 3 (PCDHGA3), transcript variant 1, mRNA.	39	Cadherin 1.				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)			GTCTGAGGAGCTAGATAAAGG	0.622000											OREG0016855	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		107			74		2.94884e-30	3.89142e-30	1	1	0
XPNPEP1	7511	broad.mit.edu	37	10	111642355	111642355	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:111642355C>T	uc001kyp.2	-	9	996	c.876G>A	c.(874-876)gaG>gaA	p.E292E	XPNPEP1_uc009xxt.2_Silent_p.E292E|XPNPEP1_uc001kyq.2_Silent_p.E178E|XPNPEP1_uc010qrb.2_Silent_p.E292E|XPNPEP1_uc010qra.1_Silent_p.E16E	NM_020383	NP_065116	Q9NQW7	XPP1_HUMAN	Homo sapiens X-prolyl aminopeptidase (aminopeptidase P) 1, soluble (XPNPEP1), transcript variant 1, mRNA.	249					bradykinin catabolic process|proteolysis		manganese ion binding|metalloaminopeptidase activity|protein homodimerization activity			endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1)	31		Breast(234;0.174)		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)		GAAGCAGGTGCTCCTTCACAC	0.557000														48			29		0	0	1	0	0
PSMA1	5682	broad.mit.edu	37	11	14529285	14529285	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:14529285C>A	uc001mll.3	-	9	1015	c.670G>T	c.(670-672)Gac>Tac	p.D224Y	PSMA1_uc010rcp.1_Non-coding_Transcript|PSMA1_uc001mlk.3_Missense_Mutation_p.D218Y	NM_148976	NP_683877	P25786	PSA1_HUMAN	Homo sapiens proteasome (prosome, macropain) subunit, alpha type, 1 (PSMA1), transcript variant 1, mRNA.	218					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction	cytoplasm|nucleus|polysome|proteasome core complex, alpha-subunit complex	RNA binding|protein binding|threonine-type endopeptidase activity			large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	3						AACTCCAAGTCTTTACCAACA	0.333000														55			30		1.08312e-15	1.366e-15	1	1	0
BDH2	56898	broad.mit.edu	37	4	104017402	104017402	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:104017402G>A	uc003hwz.3	-	1	115	c.10C>T	c.(10-12)Ctt>Ttt	p.L4F		NM_020139	NP_064524	Q9BUT1	BDH2_HUMAN	Homo sapiens 3-hydroxybutyrate dehydrogenase, type 2 (BDH2), mRNA.	4					fatty acid beta-oxidation|heme metabolic process|iron ion homeostasis|siderophore biosynthetic process	cytoplasm	3-hydroxybutyrate dehydrogenase activity|NAD binding|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|urinary_tract(1)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.02e-08)		TTCCCATCAAGTCGACCCATA	0.423000														9			4		0	0	1	0	0
KLHL9	55958	broad.mit.edu	37	9	21334319	21334319	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:21334319G>A	uc003zoy.3	-	0	1111	c.540C>T	c.(538-540)aaC>aaT	p.N180N	KLHL9_uc003zow.3_Intron|KLHL9_uc003zox.3_Non-coding_Transcript	NM_018847	NP_061335	Q9P2J3	KLHL9_HUMAN	Homo sapiens kelch-like 9 (Drosophila) (KLHL9), mRNA.	180	BACK.				cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex|midbody				endometrium(9)|large_intestine(7)|lung(10)|ovary(4)|skin(2)	32				Lung(24;8.52e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.118)		AAGCAGGAAAGTTCTTCAGGA	0.378000														33			21		0	0	1	0	0
CTPS2	56474	broad.mit.edu	37	X	16688716	16688716	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:16688716C>A	uc004cxk.3	-	10	1920	c.1176G>T	c.(1174-1176)aaG>aaT	p.K392N	CTPS2_uc004cxl.3_Missense_Mutation_p.K392N|CTPS2_uc004cxm.3_Missense_Mutation_p.K392N	NM_001144002	NP_787055	Q9NRF8	PYRG2_HUMAN	Homo sapiens CTP synthase II (CTPS2), transcript variant 3, mRNA.	392	Glutamine amidotransferase type-1.				glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine nucleotide biosynthetic process	cytosol	ATP binding|CTP synthase activity			breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Hepatocellular(33;0.0997)					GAAAAGGAATCTTCTTTGTCC	0.388000														218			10		0.000978159	0.00103832	1	1	0
CAT	847	broad.mit.edu	37	11	34489941	34489941	+	Splice_Site	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:34489941C>T	uc001mvm.3	+	11	1523	c.1434_splice	c.e11+1	p.A478_splice		NM_001752	NP_001743	P04040	CATA_HUMAN	Homo sapiens catalase (CAT), mRNA.	478					UV protection|hydrogen peroxide catabolic process|negative regulation of apoptosis|positive regulation of cell division|protein tetramerization|purine base metabolic process|purine nucleotide catabolic process	peroxisomal matrix|peroxisomal membrane	NADP binding|catalase activity|heme binding|protein homodimerization activity			breast(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(3)	26		Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027)		BRCA - Breast invasive adenocarcinoma(625;0.000995)	Fomepizole(DB01213)	CAGAAGAAAGCGGTGAGTCTT	0.468000														49			37		0	0	1	0	0
LRRCC1	85444	broad.mit.edu	37	8	86035730	86035730	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:86035730G>A	uc003ycw.3	+	6	1221	c.1013G>A	c.(1012-1014)gGa>gAa	p.G338E	LRRCC1_uc010lzz.2_Intron|LRRCC1_uc022awx.1_Missense_Mutation_p.G245E|LRRCC1_uc010maa.2_Missense_Mutation_p.G39E|LRRCC1_uc003ycy.3_Missense_Mutation_p.G318E	NM_033402	NP_208325	Q9C099	LRCC1_HUMAN	Homo sapiens leucine rich repeat and coiled-coil domain containing 1 (LRRCC1), mRNA.	338					cell division|mitosis	centriole|nucleus				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						AGTGACTATGGAAACAGAAAA	0.328000														45			38		0	0	1	0	0
NLRC3	197358	broad.mit.edu	37	16	3614600	3614600	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:3614600C>T	uc010btn.3	-	4	749	c.338G>A	c.(337-339)cGc>cAc	p.R113H		NM_178844	NP_849172	Q7RTR2	NLRC3_HUMAN	Homo sapiens NLR family, CARD domain containing 3 (NLRC3), mRNA.	113					I-kappaB kinase/NF-kappaB cascade|T cell activation|negative regulation of NF-kappaB transcription factor activity	cytoplasm	ATP binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CCCGCCCCCGCGGGTGGCCTC	0.711000														24			16		0	0	1	0	0
MYH10	4628	broad.mit.edu	37	17	8393675	8393675	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:8393675G>A	uc002glm.3	-	34	4963	c.4867C>T	c.(4867-4869)Cgg>Tgg	p.R1623W	MYH10_uc002gll.3_Missense_Mutation_p.R1592W|MYH10_uc010cnx.3_Missense_Mutation_p.R1601W	NM_005964	NP_005955	P35580	MYH10_HUMAN	Homo sapiens myosin, heavy chain 10, non-muscle (MYH10), transcript variant 2, mRNA.	1592					actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	ADP binding|ATP binding|actin filament binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						ATCAGCAGCCGCTTCTTCTCT	0.557000														83			6		0	0	1	0	0
HIPK1	204851	broad.mit.edu	37	1	114483046	114483046	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:114483046C>T	uc001eem.3	+	1	202	c.41C>T	c.(40-42)tCg>tTg	p.S14L	HIPK1_uc001eel.3_Missense_Mutation_p.S14L|HIPK1_uc001een.3_Missense_Mutation_p.S14L	NM_198268	NP_938010	Q86Z02	HIPK1_HUMAN	Homo sapiens homeodomain interacting protein kinase 1 (HIPK1), transcript variant 1, mRNA.	14					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCATCAGTGTCGTCGAGTGCC	0.443000														141			105		0	0	1	0	0
ARRDC5	645432	broad.mit.edu	37	19	4891208	4891208	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:4891208G>A	uc002mbm.3	-	2	879	c.879C>T	c.(877-879)taC>taT	p.Y293Y		NM_001080523	NP_001073992	A6NEK1	ARRD5_HUMAN	Homo sapiens arrestin domain containing 5 (ARRDC5), mRNA.	293					signal transduction					endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0257)		TGACCAGCTCGTAGCGAGTGT	0.607000														91			65		0	0	1	0	0
ZNF646	9726	broad.mit.edu	37	16	31089168	31089168	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:31089168G>A	uc002eap.3	+	1	1812	c.1523G>A	c.(1522-1524)cGc>cAc	p.R508H	ZNF646_uc021tgu.1_Missense_Mutation_p.R508H	NM_014699	NP_055514	O15015	ZN646_HUMAN	Homo sapiens zinc finger protein 646 (ZNF646), mRNA.	508					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						ATGGCCCTGCGCAACCACGTG	0.642000														13			5		0	0	1	0	0
ZDHHC23	254887	broad.mit.edu	37	3	113673059	113673059	+	Missense_Mutation	SNP	C	A	A	rs147787442		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:113673059C>A	uc003eau.3	+	2	973	c.674C>A	c.(673-675)cCt>cAt	p.P225H	ZDHHC23_uc003eav.3_Missense_Mutation_p.P219H	NM_173570	NP_775841	Q8IYP9	ZDH23_HUMAN	Homo sapiens zinc finger, DHHC-type containing 23 (ZDHHC23), mRNA.	225						integral to membrane	acyltransferase activity|zinc ion binding	p.P225L(2)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|urinary_tract(2)	16						AAAGGGTTCCCTGGGGCAGAC	0.572000														118			14		2.32078e-09	2.76369e-09	1	1	0
KCNK16	83795	broad.mit.edu	37	6	39285629	39285629	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:39285629A>G	uc003oor.4	-	2	442	c.428T>C	c.(427-429)cTg>cCg	p.L143P	KCNK16_uc003ooq.3_Missense_Mutation_p.L143P|KCNK16_uc010jwy.3_Missense_Mutation_p.L143P|KCNK16_uc011dtz.1_Missense_Mutation_p.L143P	NM_001135105	NP_001128577	Q96T55	KCNKG_HUMAN	Homo sapiens potassium channel, subfamily K, member 16 (KCNK16), transcript variant 1, mRNA.	143						integral to membrane	potassium channel activity|voltage-gated ion channel activity			large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)	13						CCCTGTGCCCAGGTGGTTGAG	0.602000														9			3		0	0	1	0	0
MYCBP2	23077	broad.mit.edu	37	13	77661658	77661658	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:77661658C>A	uc021rks.1	-	61	11103	c.10836G>T	c.(10834-10836)gaG>gaT	p.E3612D	MYCBP2_uc010aev.3_Missense_Mutation_p.E2978D|MYCBP2_uc001vke.3_Missense_Mutation_p.E194D	NM_015057	NP_055872	O75592	MYCB2_HUMAN	Homo sapiens MYC binding protein 2 (MYCBP2), mRNA.	3574					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TTTCTTCATCCTCTTCTTCCT	0.363000														21			14		0.000219431	0.000236831	1	1	0
LRP2	4036	broad.mit.edu	37	2	170175364	170175364	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:170175364T>G	uc002ues.3	-	2	431	c.218A>C	c.(217-219)aAg>aCg	p.K73T	LRP2_uc010zdf.1_Missense_Mutation_p.K73T	NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	73	LDL-receptor class A 2.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	ACTCTGGCACTTGAAATAGCC	0.463000														32			10		0	0	1	0	0
TMPRSS9	360200	broad.mit.edu	37	19	2405420	2405420	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:2405420G>A	uc010xgx.2	+	5	617	c.617G>A	c.(616-618)gGc>gAc	p.G206D	TMPRSS9_uc002lvv.1_Missense_Mutation_p.G240D	NM_182973	NP_892018	Q7Z410	TMPS9_HUMAN	Homo sapiens transmembrane protease, serine 9 (TMPRSS9), mRNA.	206	Peptidase S1 1.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ATCGTGGGCGGCATGGAAGCA	0.642000														44			18		0	0	1	0	0
EPHA7	2045	broad.mit.edu	37	6	93982040	93982040	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:93982040T>G	uc003poe.3	-	5	1666	c.1425A>C	c.(1423-1425)gaA>gaC	p.E475D	EPHA7_uc003pof.3_Missense_Mutation_p.E475D|EPHA7_uc011eac.2_Missense_Mutation_p.E475D	NM_004440	NP_004431	Q15375	EPHA7_HUMAN	Homo sapiens EPH receptor A7 (EPHA7), mRNA.	475	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		TGATTTCATATTCTGTGATGA	0.443000														118			13		0	0	1	0	0
PIGO	84720	broad.mit.edu	37	9	35093169	35093169	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:35093169G>A	uc003zwd.3	-	5	1373	c.977C>T	c.(976-978)aCg>aTg	p.T326M	PIGO_uc003zwe.3_Missense_Mutation_p.T326M|PIGO_uc003zwf.3_Missense_Mutation_p.T326M|PIGO_uc003zwc.1_3'UTR|PIGO_uc003zwg.2_5'UTR	NM_032634	NP_116023	Q8TEQ8	PIGO_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class O (PIGO), transcript variant 1, mRNA.	326					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity			endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			CAGGGCCAGCGTGGGCACAAG	0.542000														21			13		0	0	1	0	0
PLCXD3	345557	broad.mit.edu	37	5	41382049	41382049	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:41382049C>A	uc003jmm.1	-	1	793	c.691G>T	c.(691-693)Gca>Tca	p.A231S		NM_001005473	NP_001005473	Q63HM9	PLCX3_HUMAN	Homo sapiens phosphatidylinositol-specific phospholipase C, X domain containing 3 (PLCXD3), mRNA.	231					intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						GTGATGGATGCTTGAAGAAAC	0.537000														31			27		2.44723e-14	3.06345e-14	1	1	0
C2orf51	200523	broad.mit.edu	37	2	88828648	88828648	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:88828648G>T	uc002stb.2	+	3	341	c.199G>T	c.(199-201)Ggg>Tgg	p.G67W		NM_152670	NP_689883	Q96LM6	TSC21_HUMAN	Homo sapiens chromosome 2 open reading frame 51 (C2orf51), mRNA.	67						nucleus		p.G67E(1)		large_intestine(2)|lung(11)|prostate(1)|skin(1)	15						GCTAACAGATGGGTACCCTGC	0.547000														37			19		1.67942e-08	1.97205e-08	1	1	0
C12orf51	283450	broad.mit.edu	37	12	112667602	112667602	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:112667602C>A	uc021reb.1	-	40	6413	c.6017G>T	c.(6016-6018)aGg>aTg	p.R2006M	C12orf51_uc001ttr.1_5'Flank	NM_001109662	NP_001103132			Homo sapiens chromosome 12 open reading frame 51 (C12orf51), mRNA.											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(6)|large_intestine(16)|lung(49)|ovary(4)|prostate(1)|urinary_tract(6)	100						GGCAAGTTTCCTGCCACTGCT	0.483000														58			6		0.00116845	0.00123466	1	1	0
MLLT4	4301	broad.mit.edu	37	6	168314887	168314887	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:168314887G>T	uc021zik.1	+	15	2273	c.1954G>T	c.(1954-1956)Gca>Tca	p.A652S	MLLT4_uc003qwb.1_Missense_Mutation_p.A677S|MLLT4_uc003qwc.2_Missense_Mutation_p.A693S|MLLT4_uc021zij.1_Missense_Mutation_p.A677S|MLLT4_uc021zim.1_Missense_Mutation_p.A239S|MLLT4_uc003qwg.1_Missense_Mutation_p.A2S	NM_001040000	NP_001035089	P55196	AFAD_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (MLLT4), transcript variant 2, mRNA.	693					adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		CTTCTGGATGGCAAATGCATC	0.388000			T	MLL	AL									60			5		0.014758	0.0151755	1	1	0
FFAR2	2867	broad.mit.edu	37	19	35940854	35940854	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:35940854G>A	uc002nzg.2	+	1	318	c.238G>A	c.(238-240)Gtc>Atc	p.V80I	FFAR2_uc010eea.3_Missense_Mutation_p.V80I	NM_005306	NP_005297	O15552	FFAR2_HUMAN	Homo sapiens free fatty acid receptor 2 (FFAR2), mRNA.	80						integral to plasma membrane	G-protein coupled receptor activity|lipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1)	22	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CCTGCCCAAGGTCGTCTGCGC	0.622000														16			10		0	0	1	0	0
SLC9A6	10479	broad.mit.edu	37	X	135067917	135067917	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:135067917C>A	uc004ezk.3	+	0	332	c.256C>A	c.(256-258)Ctc>Atc	p.L86I	SLC9A6_uc011mvx.2_Missense_Mutation_p.L34I|SLC9A6_uc004ezj.3_Missense_Mutation_p.L86I	NM_001042537	NP_001036002	Q92581	SL9A6_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 6 (SLC9A6), transcript variant 1, mRNA.	86					regulation of pH	early endosome membrane|endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane|recycling endosome membrane	sodium:hydrogen antiporter activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(18)|ovary(2)|upper_aerodigestive_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					CCTCACCATTCTCACAATCTG	0.592000														162			12		3.27435e-08	3.82583e-08	1	1	0
KCNA10	3744	broad.mit.edu	37	1	111060704	111060704	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:111060704C>T	uc001dzt.1	-	0	1094	c.706G>A	c.(706-708)Gag>Aag	p.E236K		NM_005549	NP_005540	Q16322	KCA10_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 10 (KCNA10), mRNA.	236						voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity	p.E236D(1)|p.L235L(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)		GGCAGTGTCTCCAGGCAGAAG	0.562000														76			8		0	0	1	0	0
MAGI3	260425	broad.mit.edu	37	1	114226160	114226160	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:114226160G>A	uc001edk.3	+	20	4151	c.3970G>A	c.(3970-3972)Gct>Act	p.A1324T	MAGI3_uc001edi.4_3'UTR|MAGI3_uc010owm.2_3'UTR|MAGI3_uc001edj.3_3'UTR|MAGI3_uc009wgo.3_Non-coding_Transcript	NM_001142782	NP_001136254	Q5TCQ9	MAGI3_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 3 (MAGI3), transcript variant 1, mRNA.	1349					apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGGCAGTAATGCTGAGCAGAT	0.423000														45			26		0	0	1	0	0
PDGFRL	5157	broad.mit.edu	37	8	17500218	17500218	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:17500218G>T	uc003wxr.3	+	6	1481	c.1036G>T	c.(1036-1038)Gac>Tac	p.D346Y		NM_006207	NP_006198	Q15198	PGFRL_HUMAN	Homo sapiens platelet-derived growth factor receptor-like (PDGFRL), mRNA.	346	Ig-like C2-type 2.					extracellular region	platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)	9				Colorectal(111;0.0752)		TACAGTGGAAGACTTTGAGAC	0.468000														47			27		2.65835e-16	3.3677e-16	1	1	0
EFCAB5	374786	broad.mit.edu	37	17	28380515	28380515	+	Nonsense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:28380515G>T	uc002het.3	+	9	1735	c.1543G>T	c.(1543-1545)Gaa>Taa	p.E515*	EFCAB5_uc010wbi.1_Nonsense_Mutation_p.E258*|EFCAB5_uc010wbj.2_Nonsense_Mutation_p.E459*|EFCAB5_uc010wbk.2_Nonsense_Mutation_p.E172*|EFCAB5_uc010csd.3_Non-coding_Transcript|EFCAB5_uc010cse.3_Nonsense_Mutation_p.E394*|EFCAB5_uc010csf.3_Nonsense_Mutation_p.E394*	NM_198529	NP_940931	A4FU69	EFCB5_HUMAN	Homo sapiens EF-hand calcium binding domain 5 (EFCAB5), transcript variant 1, mRNA.	515							calcium ion binding			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						AGTAACTGCAGAACAAGGACC	0.398000														25			17		1.33834e-09	1.59673e-09	1	1	0
URGCP	55665	broad.mit.edu	37	7	43916585	43916585	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:43916585G>T	uc003tiw.3	-	5	2534	c.2477C>A	c.(2476-2478)tCt>tAt	p.S826Y	URGCP_uc022acg.1_Intron|URGCP_uc003tiu.3_Missense_Mutation_p.S783Y|URGCP_uc003tiv.3_Missense_Mutation_p.S751Y|URGCP_uc003tix.3_Missense_Mutation_p.S817Y|URGCP_uc003tiy.3_Missense_Mutation_p.S783Y|URGCP_uc003tiz.3_Missense_Mutation_p.S783Y|URGCP_uc011kbj.2_Missense_Mutation_p.S783Y	NM_001077663	NP_001071131	Q8TCY9	URGCP_HUMAN	Homo sapiens upregulator of cell proliferation (URGCP), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	826					cell cycle	centrosome|nucleus	GTP binding			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GCCGGGAACAGATACATCATG	0.532000														30			42		3.61848e-18	4.63112e-18	1	1	0
SLC6A3	6531	broad.mit.edu	37	5	1403055	1403055	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:1403055C>T	uc003jck.3	-	12	1875	c.1749G>A	c.(1747-1749)ctG>ctA	p.L583L		NM_001044	NP_001035	Q01959	SC6A3_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, dopamine), member 3 (SLC6A3), mRNA.	583	Interaction with TGFB1I1.				cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	AGGACCCAGGCAGGCTGCAGA	0.632000														20			7		0	0	1	0	0
ZNF32	7580	broad.mit.edu	37	10	44139911	44139911	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:44139911C>T	uc001jbb.3	-	2	598	c.409G>A	c.(409-411)Gag>Aag	p.E137K	ZNF32-AS3_uc001jba.2_Intron|ZNF32_uc001jbc.3_Missense_Mutation_p.E137K	NM_001005368	NP_008904	P17041	ZNF32_HUMAN	Homo sapiens zinc finger protein 32 (ZNF32), transcript variant 2, mRNA.	137					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	14		all_neural(218;0.0182)|Ovarian(717;0.0443)|Renal(717;0.157)		Lung(62;0.179)		TTCCCACACTCCTTGCACTGA	0.498000														32			18		0	0	1	0	0
KCNC3	3748	broad.mit.edu	37	19	50826570	50826570	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:50826570G>A	uc002pru.1	-	1	1935	c.1640C>T	c.(1639-1641)tCg>tTg	p.S547L	KCNC3_uc002prt.1_Missense_Mutation_p.S183L	NM_004977	NP_004968	Q14003	KCNC3_HUMAN	Homo sapiens potassium voltage-gated channel, Shaw-related subfamily, member 3 (KCNC3), mRNA.	547					cell death	voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(2)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)	13		all_neural(266;0.057)|Ovarian(192;0.208)		OV - Ovarian serous cystadenocarcinoma(262;0.00283)|GBM - Glioblastoma multiforme(134;0.0181)		CATGGCCAGCGAATAGTACAT	0.627000														14			8		0	0	1	0	0
CCDC107	203260	broad.mit.edu	37	9	35660849	35660849	+	Nonsense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:35660849G>T	uc011lox.2	+	4	607	c.517G>T	c.(517-519)Gaa>Taa	p.E173*	RMRP_uc003zxh.2_5'Flank|CCDC107_uc022bgm.1_3'UTR|CCDC107_uc011loy.2_Nonsense_Mutation_p.E173*|CCDC107_uc003zxj.3_3'UTR|C9orf100_uc003zxl.3_Non-coding_Transcript|C9orf100_uc003zxm.1_3'UTR	NM_174923	NP_777583	Q8WV48	CC107_HUMAN	Homo sapiens coiled-coil domain containing 107 (CCDC107), transcript variant A, mRNA.	173						integral to membrane				endometrium(1)|lung(3)|skin(1)	5	all_epithelial(49;0.217)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GGAGGCTTCAGAACCAGGTGA	0.557000														205			14		1.15088e-07	1.32926e-07	1	1	0
ARSE	415	broad.mit.edu	37	X	2867535	2867535	+	Missense_Mutation	SNP	C	T	T	rs150444751		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:2867535C>T	uc011mhh.2	-	6	1200	c.739G>A	c.(739-741)Gtc>Atc	p.V247I	ARSE_uc011mhi.2_Missense_Mutation_p.V168I|ARSE_uc004crc.4_Missense_Mutation_p.V222I			P51690	ARSE_HUMAN	Homo sapiens arylsulfatase E (chondrodysplasia punctata 1) (ARSE), mRNA.	222					skeletal system development	Golgi stack	arylsulfatase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				ATCCACGAGACGGGTATCAGG	0.547000														18			17		0	0	1	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107450509	107450509	+	Missense_Mutation	SNP	G	A	A	rs138821621		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:107450509G>A	uc002tdq.3	-	2	1156	c.1037C>T	c.(1036-1038)tCg>tTg	p.S346L	ST6GAL2_uc002tdr.3_Missense_Mutation_p.S346L|ST6GAL2_uc002tds.3_Missense_Mutation_p.S346L	NM_001142351	NP_115917	Q96JF0	SIAT2_HUMAN	Homo sapiens ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 (ST6GAL2), transcript variant 2, mRNA.	346					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	p.S346L(4)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						TCTTACCTGCGAATTAATGAT	0.393000														81			33		0	0	1	0	0
PIGO	84720	broad.mit.edu	37	9	35091816	35091816	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:35091816G>A	uc003zwd.3	-	6	2464	c.2068C>T	c.(2068-2070)Cgc>Tgc	p.R690C	PIGO_uc003zwe.3_Intron|PIGO_uc003zwf.3_Intron|PIGO_uc003zwc.1_3'UTR|PIGO_uc003zwg.2_Missense_Mutation_p.R253C	NM_032634	NP_116023	Q8TEQ8	PIGO_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class O (PIGO), transcript variant 1, mRNA.	690					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity	p.R690H(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			TTACCATAGCGGCGAAGCCAC	0.602000														15			13		0	0	1	0	0
VSIG1	340547	broad.mit.edu	37	X	107301375	107301375	+	Nonsense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:107301375G>T	uc011msk.2	+	1	318	c.157G>T	c.(157-159)Gaa>Taa	p.E53*	VSIG1_uc004eno.3_Nonsense_Mutation_p.E53*	NM_001170553	NP_001164024	Q86XK7	VSIG1_HUMAN	Homo sapiens V-set and immunoglobulin domain containing 1 (VSIG1), transcript variant 1, mRNA.	53	Ig-like V-type 1.					integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17						GGCCTCCCGAGAACAGCTTTC	0.468000														47			27		3.73148e-12	4.59117e-12	1	1	0
DKK4	27121	broad.mit.edu	37	8	42234556	42234556	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:42234556G>A	uc003xpb.3	-	0	119	c.8C>T	c.(7-9)gCg>gTg	p.A3V		NM_014420	NP_055235	Q9UBT3	DKK4_HUMAN	Homo sapiens dickkopf homolog 4 (Xenopus laevis) (DKK4), mRNA.	3					Wnt receptor signaling pathway|multicellular organismal development|negative regulation of Wnt receptor signaling pathway	extracellular region				NS(1)|endometrium(1)|large_intestine(7)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	14	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;2.58e-12)|Lung NSC(13;4.24e-11)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.1)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;3.48e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00523)|Lung(22;0.00597)|LUSC - Lung squamous cell carcinoma(45;0.024)			CAGGACGGCCGCCACCATCCT	0.647000														19			8		0	0	1	0	0
SLC25A29	123096	broad.mit.edu	37	14	100759259	100759259	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:100759259C>T	uc010twx.2	-	2	520	c.206G>A	c.(205-207)cGc>cAc	p.R69H	SLC25A29_uc010avv.3_Silent_p.S25S|SLC25A29_uc001yha.3_Silent_p.S91S			Q8N8R3	MCATL_HUMAN	Homo sapiens solute carrier family 25, member 29 (SLC25A29), nuclear gene encoding mitochondrial protein, mRNA.	299						integral to membrane|mitochondrial inner membrane	binding			NS(1)|endometrium(1)|ovary(1)	3		Melanoma(154;0.152)			L-Carnitine(DB00583)	GGTTGAGGGGCGAGTCGTGGC	0.692000														4			4		0	0	1	0	0
RAB34	83871	broad.mit.edu	37	17	27043037	27043037	+	Silent	SNP	C	T	T	rs142412914	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:27043037C>T	uc010was.1	-	3	358	c.357G>A	c.(355-357)tcG>tcA	p.S119S	RAB34_uc002hce.2_Silent_p.S62S|RAB34_uc002hcg.2_Silent_p.S62S|RAB34_uc010wat.1_Silent_p.S119S|RAB34_uc002hch.2_Silent_p.S62S|RAB34_uc010wau.1_Intron|RAB34_uc010wav.1_Silent_p.S120S	NM_001144943	NP_114140	Q9BZG1	RAB34_HUMAN	Homo sapiens RAB34, member RAS oncogene family (RAB34), transcript variant 8, mRNA.	62					protein transport|small GTPase mediated signal transduction	Golgi apparatus	GTP binding			endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|skin(2)	14	Lung NSC(42;0.00431)					TCTTCCCCACCGACAGGTCCC	0.592000														32			10		0	0	1	0	0
CLEC16A	23274	broad.mit.edu	37	16	11219841	11219841	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:11219841C>A	uc021tcy.1	+	21	2709	c.2479C>A	c.(2479-2481)Ctg>Atg	p.L827M	CLEC16A_uc002dan.4_Missense_Mutation_p.L809M|CLEC16A_uc002dao.3_Missense_Mutation_p.L825M|CLEC16A_uc002dap.3_5'UTR	NM_015226	NP_056041	Q2KHT3	CL16A_HUMAN	Homo sapiens C-type lectin domain family 16, member A (CLEC16A), transcript variant 1, mRNA.	827								p.0?(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						CGTAGCCCTCCTGGACCTCCC	0.607000														231			24		2.79863e-10	3.37315e-10	1	1	0
MYL12B	103910	broad.mit.edu	37	18	3277898	3277898	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:3277898G>A	uc002klt.4	+	3	622	c.482G>A	c.(481-483)cGc>cAc	p.R161H	MYL12B_uc010dkl.3_Missense_Mutation_p.R161H|MYL12B_uc010wyv.2_Missense_Mutation_p.R161H	NM_033546	NP_291024	O14950	ML12B_HUMAN	Homo sapiens myosin, light chain 12B, regulatory (MYL12B), transcript variant 2, mRNA.	161	EF-hand 3.				axon guidance|muscle contraction	cytosol|myosin complex	calcium ion binding			breast(1)|large_intestine(1)|lung(2)	4						GAGTTCACACGCATCCTGAAA	0.408000														22			10		0	0	1	0	0
KRT75	9119	broad.mit.edu	37	12	52818536	52818536	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:52818536A>G	uc001saj.2	-	8	1443	c.1421T>C	c.(1420-1422)gTg>gCg	p.V474A		NM_004693	NP_004684	O95678	K2C75_HUMAN	Homo sapiens keratin 75 (KRT75), mRNA.	474	Tail.					keratin filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		AGAGGTGACCACAGCTGCCGG	0.617000														30			20		0	0	1	0	0
CERCAM	51148	broad.mit.edu	37	9	131185490	131185490	+	Missense_Mutation	SNP	T	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:131185490T>A	uc004buz.4	+	2	772	c.374T>A	c.(373-375)cTg>cAg	p.L125Q	CERCAM_uc004buy.1_Missense_Mutation_p.L47Q|CERCAM_uc010mxz.3_Missense_Mutation_p.L47Q|CERCAM_uc010mya.1_5'Flank	NM_016174	NP_057258	Q5T4B2	GT253_HUMAN	Homo sapiens cerebral endothelial cell adhesion molecule (CERCAM), mRNA.	125					cellular component movement|leukocyte cell-cell adhesion|lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen|plasma membrane				endometrium(2)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|pancreas(2)	20						CTGATGGAGCTGAAGCAGGAA	0.547000														99			47		0	0	1	0	0
PARP4	143	broad.mit.edu	37	13	25051995	25051995	+	Splice_Site	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:25051995C>T	uc001upl.3	-	14	1739	c.1633_splice	c.e14-1	p.D545_splice	PARP4_uc010tdc.2_Splice_Site_p.D545_splice	NM_006437	NP_006428	Q9UKK3	PARP4_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 4 (PARP4), mRNA.	545	PARP catalytic.				DNA repair|cell death|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|NAD+ ADP-ribosyltransferase activity|enzyme binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		AATTCATCATCCTAGAGCAAA	0.308000														21			16		0	0	1	0	0
ZBED4	9889	broad.mit.edu	37	22	50277948	50277948	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:50277948C>T	uc003bix.2	+	1	1108	c.638C>T	c.(637-639)gCg>gTg	p.A213V	ZBED4_uc021wrx.1_Missense_Mutation_p.A213V	NM_014838	NP_055653	O75132	ZBED4_HUMAN	Homo sapiens zinc finger, BED-type containing 4 (ZBED4), mRNA.	213						cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		CAGAAAGTGGCGTCTAAGATC	0.552000														21			17		0	0	1	0	0
OGDH	4967	broad.mit.edu	37	7	44737282	44737282	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:44737282G>A	uc003tln.3	+	16	2418	c.2259G>A	c.(2257-2259)acG>acA	p.T753T	OGDH_uc011kbx.2_Silent_p.T749T|OGDH_uc011kby.2_Silent_p.T603T|OGDH_uc003tlp.3_Silent_p.T764T|OGDH_uc011kbz.2_Silent_p.T548T	NM_002541	NP_002532	Q02218	ODO1_HUMAN	Homo sapiens oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide) (OGDH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	753					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					NADH(DB00157)	TCCACAACACGGCCCAGTGTA	0.582000														94			8		0	0	1	0	0
HIVEP2	3097	broad.mit.edu	37	6	143081036	143081036	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:143081036G>A	uc003qjd.3	-	8	7132	c.6389C>T	c.(6388-6390)tCt>tTt	p.S2130F		NM_006734	NP_006725	P31629	ZEP2_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 2 (HIVEP2), mRNA.	2130	10 X 4 AA tandem repeats of S-P-[RGMKC]- [RK].|Arg-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		TCTTCTAGGAGAGAGGTCTCT	0.463000														37			22		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140793483	140793483	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140793483C>A	uc003lkl.2	+	0	741	c.741C>A	c.(739-741)acC>acA	p.T247T	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc011day.2_Silent_p.T247T	NM_018913	NP_061736	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 10 (PCDHGA10), transcript variant 1, mRNA.	243	Cadherin 3.				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)			CGGTCTTCACCTTGCCAGAAT	0.577000														26			5		0.184627	0.186034	1	1	0
OCA2	4948	broad.mit.edu	37	15	28202803	28202803	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:28202803C>T	uc001zbh.4	-	15	1825	c.1715G>A	c.(1714-1716)cGc>cAc	p.R572H	OCA2_uc010ayv.3_Missense_Mutation_p.R548H	NM_000275	NP_000266	Q04671	P_HUMAN	Homo sapiens oculocutaneous albinism II (OCA2), mRNA.	572					eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	L-tyrosine transmembrane transporter activity|arsenite transmembrane transporter activity|citrate transmembrane transporter activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		CAGCAGGCGGCGCACAGCTGT	0.657000									Oculocutaneous Albinism					23			22		0	0	1	0	0
KIAA1429	25962	broad.mit.edu	37	8	95531688	95531688	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:95531688G>A	uc003ygo.2	-	8	2109	c.2038C>T	c.(2038-2040)Cac>Tac	p.H680Y	KIAA1429_uc003ygp.3_Missense_Mutation_p.H680Y|KIAA1429_uc010maz.2_Non-coding_Transcript	NM_015496	NP_056311	Q69YN4	VIR_HUMAN	Homo sapiens KIAA1429 (KIAA1429), transcript variant 1, mRNA.	680					RNA splicing|mRNA processing	nucleus				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			TCCAAGAAGTGATGACTGTGA	0.388000														92			16		0	0	1	0	0
ZBTB44	29068	broad.mit.edu	37	11	130131194	130131194	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:130131194G>T	uc001qga.3	-	1	969	c.575C>A	c.(574-576)cCt>cAt	p.P192H	ZBTB44_uc001qgb.4_Missense_Mutation_p.P192H|ZBTB44_uc001qfx.3_Non-coding_Transcript|ZBTB44_uc001qgc.1_Missense_Mutation_p.P192H|ZBTB44_uc001qfz.3_Missense_Mutation_p.P192H	NM_014155	NP_054874	Q8NCP5	ZBT44_HUMAN	Homo sapiens zinc finger and BTB domain containing 44 (ZBTB44), mRNA.	192					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0192)|Lung(977;0.235)		AGGACTTTCAGGAGACATAAC	0.463000														52			6		0.00198382	0.00208369	1	1	0
WHSC1L1	54904	broad.mit.edu	37	8	38187117	38187117	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:38187117G>A	uc003xli.3	-	5	1878	c.1360C>T	c.(1360-1362)Cgg>Tgg	p.R454W	WHSC1L1_uc011lbm.2_Missense_Mutation_p.R454W|WHSC1L1_uc010lwe.3_Missense_Mutation_p.R454W|WHSC1L1_uc003xlj.3_Missense_Mutation_p.R454W	NM_023034	NP_075447	Q9BZ95	NSD3_HUMAN	Homo sapiens Wolf-Hirschhorn syndrome candidate 1-like 1 (WHSC1L1), transcript variant long, mRNA.	454					cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			CTTGTGTGCCGCCTCTGGCTA	0.517000			T	NUP98	AML									45			34		0	0	1	0	0
SLAIN1	122060	broad.mit.edu	37	13	78327371	78327371	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:78327371G>A	uc010thy.1	+	4	843	c.800G>A	c.(799-801)cGg>cAg	p.R267Q	SLAIN1_uc001vkk.2_Missense_Mutation_p.R190Q|SLAIN1_uc010thz.1_Missense_Mutation_p.R145Q|SLAIN1_uc001vkl.1_Missense_Mutation_p.R146Q|SLAIN1_uc010aex.1_Missense_Mutation_p.R32Q|SLAIN1_uc010aey.1_Missense_Mutation_p.R32Q|SLAIN1_uc001vkm.2_Missense_Mutation_p.R146Q	NM_001040153	NP_653196	Q8ND83	SLAI1_HUMAN	Homo sapiens SLAIN motif family, member 1 (SLAIN1), transcript variant 1, mRNA.	409										breast(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0853)		AACCTAGCCCGGATGCCAAGT	0.413000														33			15		0	0	1	0	0
LGR5	8549	broad.mit.edu	37	12	71978482	71978482	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:71978482C>A	uc001swl.3	+	17	2740	c.2692C>A	c.(2692-2694)Ctt>Att	p.L898I	LGR5_uc001swm.3_Missense_Mutation_p.L874I|LGR5_uc021rar.1_Missense_Mutation_p.L826I|LGR5_uc001swn.1_Non-coding_Transcript	NM_003667	NP_003658	O75473	LGR5_HUMAN	Homo sapiens leucine-rich repeat containing G protein-coupled receptor 5 (LGR5), mRNA.	898						integral to plasma membrane	protein-hormone receptor activity		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						GAGCTGCCATCTTTCCTCTGT	0.443000														91			33		1.47197e-15	1.85559e-15	1	1	0
ACSM1	116285	broad.mit.edu	37	16	20681161	20681161	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:20681161C>A	uc002dhm.1	-	4	968	c.900G>T	c.(898-900)aaG>aaT	p.K300N	ACSM1_uc002dhn.1_Non-coding_Transcript|ACSM1_uc010bwg.1_Missense_Mutation_p.K300N	NM_052956	NP_443188	Q08AH1	ACSM1_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 1 (ACSM1), mRNA.	300					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	ATP binding|GTP binding|acyl-CoA ligase activity|butyrate-CoA ligase activity|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						GTATGATGACCTTGGTGTCAA	0.433000														74			7		0.00198382	0.00208369	1	1	0
B3GALT2	8707	broad.mit.edu	37	1	193149591	193149591	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:193149591G>A	uc021pgr.1	-	0	1102	c.1102C>T	c.(1102-1104)Cga>Tga	p.R368*	CDC73_uc001gtb.3_Intron|B3GALT2_uc001gtc.4_Nonsense_Mutation_p.R368*	NM_003783	NP_003774	O43825	B3GT2_HUMAN	Homo sapiens UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 2 (B3GALT2), mRNA.	368					protein glycosylation	Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)	16						TAAGAGACTCGCCAGTGATTG	0.423000														69			20		0	0	1	0	0
SMC4	10051	broad.mit.edu	37	3	160149499	160149499	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:160149499G>T	uc003fdh.3	+	20	3296	c.3183G>T	c.(3181-3183)gaG>gaT	p.E1061D	IFT80_uc003fda.3_Intron|SMC4_uc003fdi.3_Missense_Mutation_p.E1036D|SMC4_uc003fdj.3_Missense_Mutation_p.E1061D|SMC4_uc010hwd.3_Missense_Mutation_p.E1003D|SMC4_uc003fdl.3_Missense_Mutation_p.E764D	NM_001002800	NP_005487	Q9NTJ3	SMC4_HUMAN	Homo sapiens structural maintenance of chromosomes 4 (SMC4), transcript variant 2, mRNA.	1061					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TAAGCCCAGAGGATCTTGAAG	0.388000														65			5		0.000602214	0.000641151	1	1	0
GABRP	2568	broad.mit.edu	37	5	170239075	170239075	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:170239075A>C	uc003mau.3	+	9	1334	c.1136A>C	c.(1135-1137)gAc>gCc	p.D379A	GABRP_uc011dev.2_3'UTR	NM_014211	NP_055026	O00591	GBRP_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, pi (GABRP), mRNA.	379						cell junction|chloride channel complex|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	29	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GACAACGTTGACTACAGTGAC	0.403000														65			33		0	0	1	0	0
C9orf172	389813	broad.mit.edu	37	9	139741209	139741209	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:139741209G>A	uc011meh.2	+	0	2343	c.2343G>A	c.(2341-2343)tcG>tcA	p.S781S	PHPT1_uc011mei.2_5'Flank|PHPT1_uc004cjq.4_5'Flank	NM_001080482	NP_001073951	C9J069	CI172_HUMAN	Homo sapiens chromosome 9 open reading frame 172 (C9orf172), mRNA.	781										endometrium(2)|large_intestine(1)|lung(6)	9						CCTACCTATCGCTGCGTGAGC	0.697000														6			5		0	0	1	0	0
C18orf56	494514	broad.mit.edu	37	18	658106	658106	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:658106A>G	uc002kkr.3	-	0	235	c.142T>C	c.(142-144)Ttc>Ctc	p.F48L	TYMS_uc010dka.1_Intron|TYMS_uc010dkb.1_Intron|TYMS_uc010dkc.1_Intron|C18orf56_uc021ugj.1_Missense_Mutation_p.F48L	NM_001012716	NP_001012734	Q8TAI1	CR056_HUMAN	Homo sapiens chromosome 18 open reading frame 56 (C18orf56), mRNA.	48							protein binding										CAGACGCCGAAACGGAGGGTC	0.692000														5			2		0	0	1	0	0
SMC3	9126	broad.mit.edu	37	10	112359426	112359426	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:112359426G>T	uc001kze.3	+	20	2409	c.2283G>T	c.(2281-2283)caG>caT	p.Q761H		NM_005445	NP_005436	Q9UQE7	SMC3_HUMAN	Homo sapiens structural maintenance of chromosomes 3 (SMC3), mRNA.	761					DNA mediated transformation|DNA repair|cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		GTAGCTTACAGAGTTTGGAGG	0.353000														51			21		0.00278032	0.00291833	1	1	0
PAPLN	89932	broad.mit.edu	37	14	73721704	73721704	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:73721704G>A	uc010ttx.2	+	12	1768	c.1605G>A	c.(1603-1605)acG>acA	p.T535T	PAPLN_uc001xnw.4_Silent_p.T508T|PAPLN_uc010arl.3_Non-coding_Transcript|PAPLN_uc010ttw.2_Non-coding_Transcript|PAPLN_uc010tty.2_Silent_p.T535T	NM_173462	NP_775733	O95428	PPN_HUMAN	Homo sapiens papilin, proteoglycan-like sulfated glycoprotein (PAPLN), mRNA.	535	TSP type-1 5.					proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		CTTGTAACACGCAGCCCTGTC	0.642000														12			7		0	0	1	0	0
MRPS28	28957	broad.mit.edu	37	8	80831363	80831363	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:80831363C>A	uc003ybp.3	-	2	439	c.416G>T	c.(415-417)aGg>aTg	p.R139M	TPD52_uc010lzr.3_Non-coding_Transcript	NM_014018	NP_054737	Q9Y2Q9	RT28_HUMAN	Homo sapiens mitochondrial ribosomal protein S28 (MRPS28), nuclear gene encoding mitochondrial protein, mRNA.	139						mitochondrial small ribosomal subunit				endometrium(1)|large_intestine(1)|lung(2)|skin(1)	5	Lung NSC(7;1.86e-06)|all_lung(9;6.91e-06)		BRCA - Breast invasive adenocarcinoma(6;0.00769)|Epithelial(68;0.0208)|all cancers(69;0.0805)			CAACCGGACCCTGGTTCCTTT	0.358000														72			10		0.000442599	0.000473562	1	1	0
TYW1	55253	broad.mit.edu	37	7	66463908	66463908	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:66463908G>T	uc003tvn.3	+	2	389	c.240G>T	c.(238-240)aaG>aaT	p.K80N	TYW1_uc010lai.3_Non-coding_Transcript	NM_018264	NP_060734	Q9NV66	TYW1_HUMAN	Homo sapiens tRNA-yW synthesizing protein 1 homolog (S. cerevisiae) (TYW1), mRNA.	80	Flavodoxin-like.				tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity			breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				CTGGAGTGAAGATTTTTTATG	0.368000														100			28		1.68575e-08	1.97895e-08	1	1	0
TTLL1	25809	broad.mit.edu	37	22	43471560	43471560	+	Silent	SNP	G	A	A	rs148475049	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:43471560G>A	uc003bdi.3	-	2	274	c.33C>T	c.(31-33)atC>atT	p.I11I	TTLL1_uc010gzh.3_Silent_p.I11I|TTLL1_uc021wqt.1_5'UTR|TTLL1_uc003bdj.3_5'UTR	NM_012263	NP_036395	O95922	TTLL1_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 1 (TTLL1), transcript variant 1, mRNA.	11	TTL.				protein polyglutamylation	cytoplasm|microtubule	ATP binding|tubulin-glutamic acid ligase activity|tubulin-tyrosine ligase activity	p.I11I(2)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(1)	23		Ovarian(80;0.0694)		BRCA - Breast invasive adenocarcinoma(115;0.00461)		CTGACTTCTCGATATCAGTGA	0.413000														120			74		0	0	1	0	0
BANP	54971	broad.mit.edu	37	16	88066718	88066718	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:88066718C>T	uc002fkr.3	+	8	1264	c.1043C>T	c.(1042-1044)cCg>cTg	p.P348L	BANP_uc010vov.2_Missense_Mutation_p.P323L|BANP_uc002fkq.3_Missense_Mutation_p.P317L|BANP_uc002fks.4_Missense_Mutation_p.P317L|BANP_uc002fkp.3_Missense_Mutation_p.P317L|BANP_uc010vow.2_Missense_Mutation_p.P356L|BANP_uc021tml.1_Missense_Mutation_p.P356L|BANP_uc002fko.1_Missense_Mutation_p.P253L	NM_001173543	NP_001167014	Q8N9N5	BANP_HUMAN	Homo sapiens BTG3 associated nuclear protein (BANP), transcript variant 7, mRNA.	348	DNA-binding (By similarity).|Necessary and sufficient for TP53 activation (By similarity).				cell cycle|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.P317L(1)		NS(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)	12				BRCA - Breast invasive adenocarcinoma(80;0.00551)		CCCACAGAGCCGATGATGAGC	0.652000														14			3		0	0	1	0	0
IQGAP1	8826	broad.mit.edu	37	15	91027504	91027504	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:91027504G>A	uc002bpl.1	+	29	3942	c.3841G>A	c.(3841-3843)Gtg>Atg	p.V1281M		NM_003870	NP_003861	P46940	IQGA1_HUMAN	Homo sapiens IQ motif containing GTPase activating protein 1 (IQGAP1), mRNA.	1281	C2.				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	GTPase inhibitor activity|Ras GTPase activator activity|calmodulin binding|protein phosphatase binding			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			TAAATTTAATGTGGATGAGTA	0.398000														74			23		0	0	1	0	0
MAU2	23383	broad.mit.edu	37	19	19446943	19446943	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:19446943G>A	uc002nmk.4	+	2	346	c.307G>A	c.(307-309)Gaa>Aaa	p.E103K		NM_015329	NP_056144	Q9Y6X3	SCC4_HUMAN	Homo sapiens MAU2 chromatid cohesion factor homolog (C. elegans) (MAU2), mRNA.	103	Sufficient for interaction with NIPBL.				cell division|maintenance of mitotic sister chromatid cohesion	SMC loading complex|chromatin|nucleoplasm	protein N-terminus binding			NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	18						CCCGCAGTTCGAAGATGTTAA	0.463000														58			30		0	0	1	0	0
KIAA0947	23379	broad.mit.edu	37	5	5462688	5462688	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:5462688G>A	uc003jdm.4	+	12	3463	c.3241G>A	c.(3241-3243)Gag>Aag	p.E1081K		NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN	Homo sapiens KIAA0947 (KIAA0947), mRNA.	1081										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						AAAACATGGAGAGACACAGGA	0.473000														80			47		0	0	1	0	0
EZR	7430	broad.mit.edu	37	6	159190393	159190393	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:159190393G>A	uc003qrt.4	-	10	1524	c.1309C>T	c.(1309-1311)Cgc>Tgc	p.R437C	EZR_uc011efr.2_Missense_Mutation_p.R44C|EZR_uc011efs.2_Missense_Mutation_p.R405C|EZR_uc003qru.4_Missense_Mutation_p.R437C	NM_003379	NP_003370	P15311	EZRI_HUMAN	Homo sapiens ezrin (EZR), transcript variant 1, mRNA.	437	Interaction with SCYL3.				actin filament bundle assembly|axon guidance|cytoskeletal anchoring at plasma membrane|leukocyte cell-cell adhesion|membrane to membrane docking|regulation of cell shape	actin filament|apical plasma membrane|basolateral plasma membrane|cortical cytoskeleton|cytosol|extrinsic to membrane|filopodium|microvillus membrane|nucleolus|ruffle membrane	actin filament binding|cell adhesion molecule binding		EZR/ROS1(4)	breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	15		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06)		TCCTCCTTGCGCCTCCGCGCC	0.597000			T	ROS1	NSCLC									30			6		0	0	1	0	0
RALGAPA1	253959	broad.mit.edu	37	14	36096635	36096635	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:36096635G>T	uc001wtj.3	-	32	5391	c.5000C>A	c.(4999-5001)aCt>aAt	p.T1667N	RALGAPA1_uc010amp.3_Non-coding_Transcript|RALGAPA1_uc001wti.3_Missense_Mutation_p.T1667N|RALGAPA1_uc010tpv.2_Missense_Mutation_p.T1680N|RALGAPA1_uc010tpw.1_Missense_Mutation_p.T1714N	NM_194301	NP_919277	Q6GYQ0	RGPA1_HUMAN	Homo sapiens Ral GTPase activating protein, alpha subunit 1 (catalytic) (RALGAPA1), transcript variant 2, mRNA.	1667	Minimal domain that binds to TCF3/E12 (By similarity).				activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	Ral GTPase activator activity|protein heterodimerization activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						AGTTGGTACAGTTTCTCTAAA	0.393000														84			58		7.41606e-26	9.72014e-26	1	1	0
STK25	10494	broad.mit.edu	37	2	242439588	242439588	+	Splice_Site	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:242439588C>A	uc002wbm.3	-	4	698	c.427_splice	c.e4+1	p.A143_splice	STK25_uc002wbl.3_5'Flank|STK25_uc002wbn.3_Splice_Site_p.A143_splice|STK25_uc002wbo.3_Splice_Site_p.A66_splice|STK25_uc010zos.2_Splice_Site_p.A49_splice|STK25_uc010zot.2_Splice_Site_p.A69_splice|STK25_uc002wbp.3_Splice_Site_p.A143_splice|STK25_uc010fzo.3_Splice_Site_p.A66_splice|STK25_uc010zou.2_Splice_Site_p.A49_splice|STK25_uc010zov.2_Splice_Site_p.A49_splice|STK25_uc010zow.2_Missense_Mutation_p.G143C	NM_006374	NP_006365	O00506	STK25_HUMAN	Homo sapiens serine/threonine kinase 25 (STK25), mRNA.	143	Protein kinase.				response to oxidative stress|signal transduction	Golgi apparatus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			breast(1)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	10		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;8.24e-34)|all cancers(36;3.46e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.1e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)		CCAGCAGGACCTTTGATGTCT	0.597000														37			6		0.0215528	0.0220531	1	1	0
ADAMTS9	56999	broad.mit.edu	37	3	64601050	64601050	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:64601050G>A	uc003dmg.3	-	20	3168	c.3136C>T	c.(3136-3138)Cag>Tag	p.Q1046*	ADAMTS9_uc011bfo.2_Nonsense_Mutation_p.Q1018*|ADAMTS9_uc003dmh.1_Nonsense_Mutation_p.Q875*|ADAMTS9_uc003dmk.1_Nonsense_Mutation_p.Q1046*|ADAMTS9_uc011bfp.1_5'UTR	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 9 (ADAMTS9), mRNA.	1046	TSP type-1 4.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		CTGCACCTCTGAATGGTAACT	0.478000														78			12		0	0	1	0	0
CADM1	23705	broad.mit.edu	37	11	115111118	115111118	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:115111118C>T	uc001ppi.4	-	1	276	c.147G>A	c.(145-147)acG>acA	p.T49T	CADM1_uc001ppf.4_Silent_p.T49T|CADM1_uc001ppk.4_Silent_p.T49T|CADM1_uc001ppj.4_Silent_p.T49T|CADM1_uc001ppl.3_Silent_p.T49T	NM_014333	NP_055148	Q9BY67	CADM1_HUMAN	Homo sapiens cell adhesion molecule 1 (CADM1), transcript variant 1, mRNA.	49	Ig-like V-type.				adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding			cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		TCACGTCTTTCGTAAACAGAT	0.428000														23			17		0	0	1	0	0
NBPF3	84224	broad.mit.edu	37	1	21800061	21800061	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:21800061C>T	uc001ber.3	+	6	1273	c.923C>T	c.(922-924)gCt>gTt	p.A308V	NBPF3_uc001bes.3_Missense_Mutation_p.A252V|NBPF3_uc009vqb.3_Missense_Mutation_p.A308V|NBPF3_uc010odm.2_Missense_Mutation_p.A238V	NM_032264	NP_115640	Q9H094	NBPF3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 3 (NBPF3), transcript variant 1, mRNA.	308	NBPF 1.					cytoplasm				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TGGTTGGATGCTGTATGCATT	0.443000														98			65		0	0	1	0	0
C4orf17	84103	broad.mit.edu	37	4	100445677	100445677	+	Splice_Site	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:100445677G>T	uc003huw.3	+	4	700	c.338_splice	c.e4-1	p.E113_splice	C4orf17_uc003hux.3_Splice_Site	NM_032149	NP_115525	Q53FE4	CD017_HUMAN	Homo sapiens chromosome 4 open reading frame 17 (C4orf17), mRNA.	113										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|urinary_tract(3)	18				OV - Ovarian serous cystadenocarcinoma(123;2.08e-08)		TTTTATTTCAGAGCCCAGTAG	0.289000														29			13		0.000151284	0.000164177	1	1	0
PHF14	9678	broad.mit.edu	37	7	11075411	11075411	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:11075411C>T	uc003sry.2	+	7	2052	c.1600C>T	c.(1600-1602)Cag>Tag	p.Q534*	PHF14_uc011jxi.2_Nonsense_Mutation_p.Q249*|PHF14_uc011jxj.2_Nonsense_Mutation_p.Q249*	NM_014660	NP_055475	O94880	PHF14_HUMAN	Homo sapiens PHD finger protein 14 (PHF14), transcript variant 2, mRNA.	534							zinc ion binding			NS(2)|breast(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	35				UCEC - Uterine corpus endometrioid carcinoma (126;0.205)		ACCAGAAGCACAGGTATGGGA	0.393000														181			66		0	0	1	0	0
CDRT1	374286	broad.mit.edu	37	17	15554452	15554452	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:15554452T>C	uc002gor.1	-	0	809	c.472A>G	c.(472-474)Agt>Ggt	p.S158G	CDRT1_uc002gox.3_Missense_Mutation_p.S158G|CDRT1_uc002goy.3_Intron			O95170	CDRT1_HUMAN	Homo sapiens tripartite motif containing 16 (TRIM16), mRNA.	0								p.D158N(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(2;1.36e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0541)		GTGTGGCCACTGTGCTCCTGG	0.617000														45			5		0	0	1	0	0
EXT1	2131	broad.mit.edu	37	8	118834803	118834803	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:118834803G>A	uc003yok.1	-	4	2091	c.1318C>T	c.(1318-1320)Cgt>Tgt	p.R440C		NM_000127	NP_000118	Q16394	EXT1_HUMAN	Homo sapiens exostosin 1 (EXT1), mRNA.	440					glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development	Golgi membrane|integral to endoplasmic reticulum membrane	N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			AAACTGTTACGTGATATGTGC	0.358000			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Langer-Giedion syndrome;Hereditary Multiple Exostoses					49			22		0	0	1	0	0
WWP1	11059	broad.mit.edu	37	8	87479030	87479030	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:87479030C>T	uc003ydt.3	+	24	2957	c.2677C>T	c.(2677-2679)Cgc>Tgc	p.R893C		NM_007013	NP_008944	Q9H0M0	WWP1_HUMAN	Homo sapiens WW domain containing E3 ubiquitin protein ligase 1 (WWP1), mRNA.	893	HECT.				central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction	cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						CAGTTTTAATCGCTTGGATCT	0.308000														75			32		0	0	1	0	0
MAST1	22983	broad.mit.edu	37	19	12962830	12962830	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:12962830C>T	uc002mvm.3	+	7	985	c.857C>T	c.(856-858)gCg>gTg	p.A286V	MAST1_uc021upp.1_Missense_Mutation_p.A110V	NM_014975	NP_055790	Q9Y2H9	MAST1_HUMAN	Homo sapiens microtubule associated serine/threonine kinase 1 (MAST1), mRNA.	286					cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						TCACGCCCTGCGAGGCTGCTG	0.612000														27			28		0	0	1	0	0
STOX1	219736	broad.mit.edu	37	10	70645583	70645583	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:70645583C>T	uc001jos.2	+	2	2118	c.2031C>T	c.(2029-2031)ggC>ggT	p.G677G	STOX1_uc001joq.3_Silent_p.G567G|STOX1_uc001jor.3_Intron|STOX1_uc009xpy.3_Intron|STOX1_uc021prw.1_Silent_p.G567G	NM_001130161	NP_689922	Q6ZVD7	STOX1_HUMAN	Homo sapiens storkhead box 1 (STOX1), transcript variant 2, mRNA.	677						cytoplasm|nucleolus	DNA binding			breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						ACCCAGTTGGCGTGAACCCTT	0.428000														70			51		0	0	1	0	0
ARHGEF25	115557	broad.mit.edu	37	12	58009709	58009709	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:58009709C>T	uc001spb.3	+	12	1789	c.1329C>T	c.(1327-1329)cgC>cgT	p.R443R	ARHGEF25_uc009zpy.3_Silent_p.R482R|ARHGEF25_uc001spa.3_Silent_p.R337R|BC073932_uc001spc.3_Intron	NM_182947	NP_891992	Q86VW2	ARHGP_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 25 (ARHGEF25), transcript variant 1, mRNA.	443	PH.				regulation of Rho protein signal transduction	cytosol|plasma membrane|sarcomere	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	28						GGATCCAGCGCTATGTCCTGC	0.597000														46			43		0	0	1	0	0
MYO1F	4542	broad.mit.edu	37	19	8601203	8601203	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:8601203G>A	uc002mkg.3	-	18	2114	c.1976C>T	c.(1975-1977)gCg>gTg	p.A659V		NM_012335	NP_036467	O00160	MYO1F_HUMAN	Homo sapiens myosin IF (MYO1F), mRNA.	659	Myosin head-like.					unconventional myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						CATGTTGACCGCCCGAAGCAG	0.637000														34			19		0	0	1	0	0
IST1	9798	broad.mit.edu	37	16	71949616	71949616	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:71949616T>C	uc002fbj.1	+	3	395	c.112T>C	c.(112-114)Ttg>Ctg	p.L38L	IST1_uc010cgh.1_Silent_p.L38L|IST1_uc002fbk.1_Silent_p.L25L|IST1_uc002fbm.1_Silent_p.L25L|IST1_uc002fbl.1_Silent_p.L25L|IST1_uc010vmk.1_Intron			P53990	IST1_HUMAN	Homo sapiens increased sodium tolerance 1 homolog (yeast) (IST1), mRNA.	25	Interaction with CHMP1A and CHMP1B.				cell cycle|cell division	ER-Golgi intermediate compartment|cytoplasmic membrane-bounded vesicle	protein binding										CCTTAAACTATTGGAGAAAAA	0.403000														48			27		0	0	1	0	0
CD163	9332	broad.mit.edu	37	12	7653811	7653811	+	Silent	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:7653811A>C	uc001qsz.3	-	2	509	c.381T>G	c.(379-381)ctT>ctG	p.L127L	CD163_uc001qta.3_Silent_p.L127L|CD163_uc009zfw.2_Silent_p.L127L	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.	127	SRCR 1.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						TGCAATCCCAAAGAGCTGACT	0.478000														162			26		0	0	1	0	0
KCNK18	338567	broad.mit.edu	37	10	118960677	118960677	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:118960677A>G	uc010qsr.2	+	1	231	c.231A>G	c.(229-231)gaA>gaG	p.E77E		NM_181840	NP_862823	Q7Z418	KCNKI_HUMAN	Homo sapiens potassium channel, subfamily K, member 18 (KCNK18), mRNA.	77						integral to membrane|plasma membrane		p.V76V(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41		Colorectal(252;0.19)		all cancers(201;0.0211)		CAGTGGTGGAAGACAGAAAAC	0.517000														99			64		0	0	1	0	0
LAG3	3902	broad.mit.edu	37	12	6886956	6886956	+	Splice_Site	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:6886956G>T	uc001qqt.4	+	7	1650	c.1301_splice	c.e7-1	p.G434_splice	LAG3_uc001qqu.3_Splice_Site_p.G264_splice	NM_002286	NP_002277	P18627	LAG3_HUMAN	Homo sapiens lymphocyte-activation gene 3 (LAG3), mRNA.	434						integral to membrane	MHC class II protein binding|antigen binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						TTTCTCCATAGGTGCCCAACG	0.517000														75			6		3.59834e-05	3.95114e-05	1	1	0
TNXB	7148	broad.mit.edu	37	6	32035474	32035474	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:32035474G>A	uc003nzl.2	-	17	6710	c.6508C>T	c.(6508-6510)Cgg>Tgg	p.R2170W		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	2242	Fibronectin type-III 14.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	p.R2170R(1)|p.R2257R(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CCCACGCGCCGCCCCTCGTGG	0.652000														17			13		0	0	1	0	0
NRXN3	9369	broad.mit.edu	37	14	79175605	79175605	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:79175605G>T	uc001xun.3	+	3	639	c.148G>T	c.(148-150)Gcc>Tcc	p.A50S	NRXN3_uc001xum.1_Non-coding_Transcript|NRXN3_uc010asv.1_Missense_Mutation_p.A184S	NM_004796	NP_004787	Q9HDB5	NRX3B_HUMAN	Homo sapiens neurexin 3 (NRXN3), transcript variant 1, mRNA.	0					angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		GTCTCGCCTGGCCCGGATTGC	0.463000														55			4		0.00024832	0.000267289	1	1	0
PLK1	5347	broad.mit.edu	37	16	23690654	23690654	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:23690654G>A	uc002dlz.1	+	0	454	c.401G>A	c.(400-402)cGc>cAc	p.R134H		NM_005030	NP_005021	P53350	PLK1_HUMAN	Homo sapiens polo-like kinase 1 (PLK1), mRNA.	134	Protein kinase.				G2/M transition DNA damage checkpoint|G2/M transition of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic prophase|negative regulation of cyclin-dependent protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|protein localization to chromatin|protein ubiquitination|regulation of mitotic anaphase|regulation of protein binding	centrosome|condensed nuclear chromosome outer kinetochore|cytosol|nucleoplasm|spindle microtubule|spindle midzone|spindle pole	ATP binding|anaphase-promoting complex binding|polo kinase kinase activity|protein kinase binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(48;0.0156)		GAGCTCTGCCGCCGGAGGGTG	0.607000														23			10		0	0	1	0	0
WHSC1	7468	broad.mit.edu	37	4	1932478	1932478	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:1932478C>T	uc003gdz.4	+	5	1712	c.1536C>T	c.(1534-1536)gtC>gtT	p.V512V	WHSC1_uc003geb.4_Silent_p.V512V|WHSC1_uc003gec.4_Silent_p.V512V|WHSC1_uc003ged.4_Silent_p.V512V|WHSC1_uc003gee.4_Non-coding_Transcript|WHSC1_uc003gef.4_Non-coding_Transcript|WHSC1_uc003gdy.1_Silent_p.V512V|WHSC1_uc010icd.1_Silent_p.V512V|WHSC1_uc003gea.1_Silent_p.V512V|WHSC1_uc010ice.1_Silent_p.V512V|WHSC1_uc003geh.1_Silent_p.V512V	NM_001042424	NP_579890	O96028	NSD2_HUMAN	Homo sapiens Wolf-Hirschhorn syndrome candidate 1 (WHSC1), transcript variant 10, mRNA.	512					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		TGGCCCCTGTCCAGGCTGAAG	0.517000			T	IGH@	MM									31			15		0	0	1	0	0
MRPS7	51081	broad.mit.edu	37	17	73258623	73258623	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:73258623T>G	uc002jnm.4	+	1	362	c.129T>G	c.(127-129)gaT>gaG	p.D43E	GGA3_uc002jnk.2_5'Flank|GGA3_uc002jni.2_5'Flank|GGA3_uc002jnj.2_5'Flank|GGA3_uc010wry.2_5'Flank|GGA3_uc010wrw.2_5'Flank|GGA3_uc010wrx.2_5'Flank|GGA3_uc010wrz.2_5'Flank	NM_015971	NP_057055	Q9Y2R9	RT07_HUMAN	Homo sapiens mitochondrial ribosomal protein S7 (MRPS7), nuclear gene encoding mitochondrial protein, mRNA.	43					translation	cytosolic small ribosomal subunit|mitochondrion	RNA binding|protein binding|structural constituent of ribosome			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)	6	all_cancers(13;1.25e-07)|all_epithelial(9;2.63e-08)|Breast(9;1.06e-07)		all cancers(21;3.02e-07)|Epithelial(20;2.92e-06)			AATTCAAGGATCCCTTGATTG	0.512000														140			72		0	0	1	0	0
KIAA0317	9870	broad.mit.edu	37	14	75140811	75140811	+	Missense_Mutation	SNP	A	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:75140811A>T	uc001xqb.3	-	8	1589	c.1084T>A	c.(1084-1086)Ttc>Atc	p.F362I	KIAA0317_uc010tut.1_Missense_Mutation_p.F201I	NM_001039479	NP_001034568	O15033	K0317_HUMAN	Homo sapiens KIAA0317 (KIAA0317), mRNA.	362					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	integral to membrane|intracellular	ubiquitin-protein ligase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25				BRCA - Breast invasive adenocarcinoma(234;0.00404)		TTCACTGAGAATTGCTGGAGG	0.403000														13			6		0	0	1	0	0
PIH1D1	55011	broad.mit.edu	37	19	49951093	49951093	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:49951093G>A	uc002pns.2	-	4	756	c.472C>T	c.(472-474)Ctg>Ttg	p.L158L	PIH1D1_uc010yap.2_3'UTR	NM_017916	NP_060386	Q9NWS0	PIHD1_HUMAN	Homo sapiens PIH1 domain containing 1 (PIH1D1), mRNA.	158					box C/D snoRNP assembly	pre-snoRNP complex				NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|urinary_tract(1)	11		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00152)|GBM - Glioblastoma multiforme(486;0.0244)		CCCGGATTCAGCTGCAAGTTG	0.612000														78			38		0	0	1	0	0
PDE11A	50940	broad.mit.edu	37	2	178969154	178969154	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:178969154C>T	uc002ulr.3	-	1	136	c.37G>A	c.(37-39)Gtg>Atg	p.V13M	PDE11A_uc002ult.1_Missense_Mutation_p.V13M	NM_001077197	NP_001070664	Q9HCR9	PDE11_HUMAN	Homo sapiens phosphodiesterase 11A (PDE11A), transcript variant 3, mRNA.	0					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			GCACTGAGCACATTTCTGAAT	0.398000									Primary Pigmented Nodular Adrenocortical Disease, Familial					100			10		0	0	1	0	0
CDKL3	51265	broad.mit.edu	37	5	133536734	133536734	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:133536734G>T	uc003kze.3	-	3	916	c.518C>A	c.(517-519)tCt>tAt	p.S173Y		NM_002715	NP_002706	Q8IVW4	CDKL3_HUMAN	Homo sapiens protein phosphatase 2, catalytic subunit, alpha isozyme (PPP2CA), mRNA.	0	Protein kinase.					cytoplasm	ATP binding|cyclin-dependent protein kinase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(3)	11			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TGTATCTATAGATGGCGAGAG	0.373000														48			29		3.11337e-16	3.94066e-16	1	1	0
CNTNAP4	85445	broad.mit.edu	37	16	76350360	76350360	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:76350360A>C	uc002fex.1	+	0	284	c.145A>C	c.(145-147)Agt>Cgt	p.S49R	CNTNAP4_uc002feu.1_Missense_Mutation_p.S45R|CNTNAP4_uc002fev.1_5'UTR|CNTNAP4_uc010chb.1_Missense_Mutation_p.S21R|CNTNAP4_uc002few.2_Missense_Mutation_p.S21R	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN	Homo sapiens contactin associated protein-like 4 (CNTNAP4), transcript variant 1, mRNA.	46	F5/8 type C.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						ATCCTTCAGCAGTTCTTCCGA	0.498000														28			9		0	0	1	0	0
DCDC5	100506627	broad.mit.edu	37	11	30915926	30915926	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:30915926G>A	uc009yjk.1	-	22	3175	c.3106C>T	c.(3106-3108)Cga>Tga	p.R1036*	DCDC5_uc001mss.1_Non-coding_Transcript|DCDC5_uc021qfk.1_Nonsense_Mutation_p.R695*|DCDC5_uc009yjj.2_Non-coding_Transcript	NM_020869	NP_065920	Q6ZRR9	DCDC5_HUMAN	Homo sapiens doublecortin domain containing 5 (DCDC5), mRNA.	0					intracellular signal transduction					NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(17)|prostate(1)|stomach(1)	31						GCCGCTACTCGCCGCCCTGAG	0.478000														50			8		0	0	1	0	0
PHLPP2	23035	broad.mit.edu	37	16	71689282	71689282	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:71689282A>G	uc002fax.3	-	15	2452	c.2446T>C	c.(2446-2448)Tat>Cat	p.Y816H	PHLPP2_uc002fav.3_Non-coding_Transcript|PHLPP2_uc010cgf.3_Missense_Mutation_p.Y749H	NM_015020	NP_055835	Q6ZVD8	PHLP2_HUMAN	Homo sapiens PH domain and leucine rich repeat protein phosphatase 2 (PHLPP2), mRNA.	816	PP2C-like.					cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						AACATGCCATACACAGCTCCC	0.463000														121			8		0	0	1	0	0
BTNL8	79908	broad.mit.edu	37	5	180335749	180335749	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:180335749G>T	uc003mmp.3	+	1	447	c.213G>T	c.(211-213)aaG>aaT	p.K71N	BTNL8_uc003mmq.3_Missense_Mutation_p.K71N|BTNL8_uc010jll.3_Missense_Mutation_p.K71N|BTNL8_uc011dhg.2_Intron|BTNL8_uc010jlm.3_Intron|BTNL8_uc011dhh.2_5'Flank	NM_001040462	NP_001153182	Q6UX41	BTNL8_HUMAN	Homo sapiens butyrophilin-like 8 (BTNL8), transcript variant 2, mRNA.	71	Ig-like V-type 1.					integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGGACGGGAAGGACCAGCCAT	0.527000														80			34		3.03874e-20	3.92096e-20	1	1	0
SPG7	6687	broad.mit.edu	37	16	89619481	89619481	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:89619481G>A	uc002fnj.3	+	13	1895	c.1874G>A	c.(1873-1875)cGg>cAg	p.R625Q	SPG7_uc002fnk.1_Non-coding_Transcript|SPG7_uc002fnl.3_Missense_Mutation_p.R34Q	NM_003119	NP_003110	Q9UQ90	SPG7_HUMAN	Homo sapiens spastic paraplegia 7 (pure and complicated autosomal recessive) (SPG7), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	625					cell death|nervous system development|protein catabolic process|proteolysis	integral to membrane|mitochondrial membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		CTGTTTGAGCGGATGTGCATG	0.627000														14			6		0	0	1	0	0
GPR75	10936	broad.mit.edu	37	2	54081849	54081849	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:54081849C>T	uc021vhn.1	-	0	45	c.45G>A	c.(43-45)tcG>tcA	p.S15S	GPR75-ASB3_uc002rxi.4_Intron|GPR75_uc002rxo.3_Silent_p.S15S	NM_006794	NP_006785	O95800	GPR75_HUMAN	Homo sapiens G protein-coupled receptor 75 (GPR75), mRNA.	15						integral to plasma membrane	G-protein coupled receptor activity	p.S15*(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			GCACATGGAGCGAGGTGGCAT	0.522000														81			35		0	0	1	0	0
SOS2	6655	broad.mit.edu	37	14	50623748	50623748	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:50623748G>A	uc001wxs.4	-	11	2124	c.2026C>T	c.(2026-2028)Cgc>Tgc	p.R676C	SOS2_uc010tql.2_Missense_Mutation_p.R643C|SOS2_uc010tqm.1_Non-coding_Transcript|SOS2_uc001wxt.2_Missense_Mutation_p.R364C	NM_006939	NP_008870	Q07890	SOS2_HUMAN	Homo sapiens son of sevenless homolog 2 (Drosophila) (SOS2), mRNA.	676	N-terminal Ras-GEF.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|Rho guanyl-nucleotide exchange factor activity|protein binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					TATTCCTTGCGAAATCTTTTA	0.358000														7			7		0	0	1	0	0
MUC2	4583	broad.mit.edu	37	11	1083767	1083767	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:1083767G>A	uc001lsx.1	+	17	2326	c.2299G>A	c.(2299-2301)Gac>Aac	p.D767N		NM_002457	NP_002448	Q02817	MUC2_HUMAN	Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA.	767						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)	GATCCACATGGACTGCAGCAA	0.701000														22			5		0	0	1	0	0
MRVI1	10335	broad.mit.edu	37	11	10597987	10597987	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:10597987A>G	uc010rcc.1	-	20	3017	c.2631T>C	c.(2629-2631)tcT>tcC	p.S877S	MRVI1-AS1_uc001miu.3_Intron|MRVI1-AS1_uc021qds.1_Intron|MRVI1_uc010rcb.1_Silent_p.S869S|MRVI1_uc001miw.2_Silent_p.S868S|MRVI1_uc001mix.3_Silent_p.S562S|MRVI1_uc001miz.2_Silent_p.S786S|MRVI1_uc010rcd.1_Silent_p.S671S|MRVI1_uc009ygd.1_Silent_p.S562S	NM_130385	NP_569056	Q9Y6F6	MRVI1_HUMAN	Homo sapiens murine retrovirus integration site 1 homolog (MRVI1), transcript variant 2, mRNA.	850					platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		GCTCTGCACAAGAGTTATAGG	0.552000														40			34		0	0	1	0	0
LTBP1	4052	broad.mit.edu	37	2	33568012	33568012	+	Missense_Mutation	SNP	G	A	A	rs140281612	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:33568012G>A	uc021vft.1	+	24	3861	c.3838G>A	c.(3838-3840)Gat>Aat	p.D1280N	LTBP1_uc002rou.3_Missense_Mutation_p.D954N|LTBP1_uc002rov.3_Missense_Mutation_p.D901N|LTBP1_uc010ymz.2_Intron|LTBP1_uc010yna.2_Intron|LTBP1_uc010ynb.2_Intron	NM_206943	NP_996826	Q14766	LTBP1_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 1 (LTBP1), transcript variant 1, mRNA.	1280	EGF-like 13; calcium-binding (Potential).				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				AGCCCCACAGGATGGGCAAGG	0.463000														30			15		0	0	1	0	0
SMG8	55181	broad.mit.edu	37	17	57289832	57289832	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:57289832T>C	uc002ixi.3	+	1	1932	c.1890T>C	c.(1888-1890)aaT>aaC	p.N630N		NM_018149	NP_060619	Q8ND04	SMG8_HUMAN	Homo sapiens smg-8 homolog, nonsense mediated mRNA decay factor (C. elegans) (SMG8), mRNA.	630					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity		protein binding			NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						AAGCAGCCAATTATGACTTCT	0.378000														79			9		0	0	1	0	0
SULT6B1	391365	broad.mit.edu	37	2	37414560	37414560	+	Nonsense_Mutation	SNP	T	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:37414560T>A	uc002rpu.3	-	1	157	c.136A>T	c.(136-138)Aaa>Taa	p.K46*	SULT6B1_uc010yni.2_Non-coding_Transcript	NM_001032377	NP_001027549	Q6IMI4	ST6B1_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 6B, member 1 (SULT6B1), mRNA.	84						cytoplasm	sulfotransferase activity			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(1)	12		all_hematologic(82;0.248)				TACTTTTTTTTAGAAACAGCA	0.323000														50			6		0	0	1	0	0
LMBRD2	92255	broad.mit.edu	37	5	36136434	36136434	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:36136434C>T	uc003jkb.1	-	5	1139	c.724G>A	c.(724-726)Gag>Aag	p.E242K		NM_001007527	NP_001007528	Q68DH5	LMBD2_HUMAN	Homo sapiens LMBR1 domain containing 2 (LMBRD2), mRNA.	242						integral to membrane				breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(31;0.000146)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TCCAAATTCTCTTCTGCATCT	0.373000														128			65		0	0	1	0	0
COL12A1	1303	broad.mit.edu	37	6	75875447	75875447	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:75875447G>A	uc021zbv.1	-	12	2794	c.2759C>T	c.(2758-2760)tCa>tTa	p.S920L	COL12A1_uc021zbw.1_Intron|COL12A1_uc003phs.3_Missense_Mutation_p.S920L|COL12A1_uc003pht.3_Intron	NM_004370	NP_004361	Q99715	COCA1_HUMAN	Homo sapiens collagen, type XII, alpha 1 (COL12A1), transcript variant long, mRNA.	920	Fibronectin type-III 6.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	p.S920L(2)		breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						AGCCCCAATTGATGTGTCAGT	0.378000														73			15		0	0	1	0	0
ARID4A	5926	broad.mit.edu	37	14	58831193	58831193	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:58831193C>T	uc001xdp.3	+	19	2640	c.2386C>T	c.(2386-2388)Cga>Tga	p.R796*	ARID4A_uc001xdo.3_Nonsense_Mutation_p.R796*|ARID4A_uc001xdq.3_Nonsense_Mutation_p.R796*|ARID4A_uc010apg.1_Nonsense_Mutation_p.R474*	NM_002892	NP_002883	P29374	ARI4A_HUMAN	Homo sapiens AT rich interactive domain 4A (RBP1-like) (ARID4A), transcript variant 1, mRNA.	796					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity	p.R795K(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						AAAGGGAAGACGAAGCAAGAC	0.343000														34			9		0	0	1	0	0
EARS2	124454	broad.mit.edu	37	16	23556017	23556017	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:23556017C>T	uc002dlu.3	-	2	335	c.303G>A	c.(301-303)ccG>ccA	p.P101P	EARS2_uc002dlr.4_Intron|EARS2_uc002dls.4_Non-coding_Transcript|EARS2_uc002dlt.4_Silent_p.P101P	NM_001083614	NP_001077083	Q5JPH6	SYEM_HUMAN	Homo sapiens glutamyl-tRNA synthetase 2, mitochondrial (putative) (EARS2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	101					glutamyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|RNA binding|glutamate-tRNA ligase activity			central_nervous_system(1)|endometrium(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	8				GBM - Glioblastoma multiforme(48;0.0353)	L-Glutamic Acid(DB00142)	TCTCATCAGGCGGGATGCCTG	0.562000														6			5		0	0	1	0	0
ELN	2006	broad.mit.edu	37	7	73477524	73477524	+	Missense_Mutation	SNP	G	A	A	rs140425210	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:73477524G>A	uc003tzw.3	+	26	1937	c.1846G>A	c.(1846-1848)Ggt>Agt	p.G616S	ELN_uc003tzn.3_Missense_Mutation_p.G610S|ELN_uc003tzy.3_Missense_Mutation_p.G586S|ELN_uc003tzz.3_Missense_Mutation_p.G529S|ELN_uc003tzo.3_Missense_Mutation_p.G562S|ELN_uc003tzp.3_Missense_Mutation_p.G521S|ELN_uc003tzq.3_Missense_Mutation_p.G474S|ELN_uc003tzr.3_Non-coding_Transcript|ELN_uc003tzs.3_Missense_Mutation_p.G591S|ELN_uc003tzt.3_Missense_Mutation_p.G615S|ELN_uc003tzu.3_Missense_Mutation_p.G596S|ELN_uc003tzv.3_Missense_Mutation_p.G581S|ELN_uc011kfe.2_Non-coding_Transcript|ELN_uc003tzx.3_Missense_Mutation_p.G600S|ELN_uc011kff.2_Missense_Mutation_p.G610S	NM_000501	NP_001075224	P15502	ELN_HUMAN	Homo sapiens elastin (ELN), transcript variant 1, mRNA.	672	Ala-rich.				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)			Rofecoxib(DB00533)	CGGGGCTCTCGGTGGAGTAGG	0.622000			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""							11			12		0	0	1	0	0
PLOD1	5351	broad.mit.edu	37	1	12034842	12034842	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:12034842G>A	uc010obb.2	+	19	2415	c.2302G>A	c.(2302-2304)Gca>Aca	p.A768T	PLOD1_uc001atm.3_Missense_Mutation_p.A721T	NM_000302	NP_000293	Q02809	PLOD1_HUMAN	Homo sapiens procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 (PLOD1), mRNA.	721					epidermis development|hydroxylysine biosynthetic process|protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein homodimerization activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	Minoxidil(DB00350)|Succinic acid(DB00139)|Vitamin C(DB00126)	CCGCTACATCGCAGTCTCCTT	0.622000														39			29		0	0	1	0	0
TRAF3IP2	10758	broad.mit.edu	37	6	111887723	111887723	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:111887723T>C	uc011ebc.2	-	7	2015	c.1400A>G	c.(1399-1401)aAa>aGa	p.K467R	TRAF3IP2-AS1_uc021zdu.1_Intron|TRAF3IP2-AS1_uc021zdv.1_Intron|TRAF3IP2_uc011ebb.2_Missense_Mutation_p.K11R|TRAF3IP2_uc003pvd.3_Missense_Mutation_p.K59R|TRAF3IP2_uc003pvg.3_Missense_Mutation_p.K466R|TRAF3IP2_uc003pvf.3_Missense_Mutation_p.K467R	NM_147686	NP_679211	O43734	CIKS_HUMAN	Homo sapiens TRAF3 interacting protein 2 (TRAF3IP2), transcript variant 2, mRNA.	476	SEFIR.				intracellular signal transduction|positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	18		all_cancers(87;7.87e-06)|Acute lymphoblastic leukemia(125;3.61e-09)|all_hematologic(75;2.63e-07)|all_epithelial(87;0.0024)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.033)|all cancers(137;0.0412)|Epithelial(106;0.0732)		CACGTCCTGTTTGTATTTGGG	0.488000														68			43		0	0	1	0	0
PIK3C3	5289	broad.mit.edu	37	18	39618800	39618800	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:39618800C>T	uc002lap.3	+	17	2082	c.2024C>T	c.(2023-2025)aCc>aTc	p.T675I	PIK3C3_uc010xcl.2_Missense_Mutation_p.T612I|PIK3C3_uc002laq.3_Missense_Mutation_p.T160I|PIK3C3_uc002lar.1_Missense_Mutation_p.T59I	NM_002647	NP_002638	Q8NEB9	PK3C3_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 3 (PIK3C3), mRNA.	675	PI3K/PI4K.				cell cycle|cytokinesis|fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	midbody|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|protein binding			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1)	49						GTGTTAGCCACCAGTACAAAA	0.279000										TSP Lung(28;0.18)				35			28		0	0	1	0	0
PCDHB12	56124	broad.mit.edu	37	5	140590516	140590516	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140590516C>T	uc003liz.3	+	0	2226	c.2037C>T	c.(2035-2037)gcC>gcT	p.A679A	PCDHB12_uc011dak.2_Silent_p.A342A|PCDHB13_uc003lja.1_5'Flank	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	Homo sapiens protocadherin beta 12 (PCDHB12), mRNA.	679					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGGCCCCGGCCCAGGCCCAGG	0.701000														45			38		0	0	1	0	0
BRWD1	54014	broad.mit.edu	37	21	40587227	40587227	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:40587227C>T	uc002yxk.2	-	31	4016	c.3721G>A	c.(3721-3723)Gaa>Aaa	p.E1241K	BRWD1_uc010goc.1_5'UTR|BRWD1_uc021wjf.1_Missense_Mutation_p.E1241K|BRWD1_uc010god.1_Missense_Mutation_p.E207K	NM_018963	NP_061836	Q9NSI6	BRWD1_HUMAN	Homo sapiens bromodomain and WD repeat domain containing 1 (BRWD1), transcript variant 1, mRNA.	1241	Bromo 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				CTCTCAGGTTCGTTAAATGTT	0.328000														29			30		0	0	1	0	0
BACE2	25825	broad.mit.edu	37	21	42609525	42609525	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:42609525G>A	uc002yyw.3	+	2	950	c.487G>A	c.(487-489)Gtc>Atc	p.V163I	BACE2_uc002yyx.3_Missense_Mutation_p.V163I|BACE2_uc002yyy.3_Missense_Mutation_p.V163I	NM_012105	NP_036237	Q9Y5Z0	BACE2_HUMAN	Homo sapiens beta-site APP-cleaving enzyme 2 (BACE2), transcript variant a, mRNA.	163					membrane protein ectodomain proteolysis|negative regulation of amyloid precursor protein biosynthetic process|peptide hormone processing	Golgi apparatus|cell surface|endoplasmic reticulum|endosome|integral to membrane	aspartic-type endopeptidase activity			endometrium(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14		Prostate(19;1.57e-07)|all_epithelial(19;0.0251)				GGAAGACCTCGTCACCATCCC	0.448000														33			14		0	0	1	0	0
DENND1B	163486	broad.mit.edu	37	1	197479833	197479833	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:197479833C>A	uc021pgu.1	-	22	2423	c.2085G>T	c.(2083-2085)caG>caT	p.Q695H	DENND1B_uc010ppf.2_Non-coding_Transcript	NM_001195215	NP_001182144	Q6P3S1	DEN1B_HUMAN	Homo sapiens DENN/MADD domain containing 1B (DENND1B), transcript variant 3, mRNA.	0						clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity			NS(2)|breast(2)|kidney(2)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	22						CTTTATCAGTCTGGGAAACTT	0.453000														46			27		7.41945e-09	8.75113e-09	1	1	0
GAB4	128954	broad.mit.edu	37	22	17488898	17488898	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:17488898C>A	uc002zlw.3	-	0	215	c.107G>T	c.(106-108)aGa>aTa	p.R36I	GAB4_uc010gqs.1_Missense_Mutation_p.R36I	NM_001037814	NP_001032903	Q2WGN9	GAB4_HUMAN	Homo sapiens GRB2-associated binding protein family, member 4 (GAB4), mRNA.	36										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				GTGGCCACTTCTCGTGCTTCC	0.682000														5			3		0.184627	0.186034	1	1	0
ANO2	57101	broad.mit.edu	37	12	5744492	5744492	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:5744492C>T	uc001qnm.2	-	16	1714	c.1642G>A	c.(1642-1644)Gtc>Atc	p.V548I		NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN	Homo sapiens anoctamin 2 (ANO2), mRNA.	553						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						ACCCCAAAGACGATTGAGAAT	0.483000														17			6		0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57599408	57599408	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57599408C>A	uc001snd.3	+	74	12004	c.11538C>A	c.(11536-11538)ctC>ctA	p.L3846L		NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	3846	EGF-like 15.				aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GCGGCCACCTCTGCAGCTGCG	0.627000														40			19		0.000175454	0.00018951	1	1	0
SIGLEC11	114132	broad.mit.edu	37	19	50463908	50463908	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:50463908C>T	uc010ybh.2	-	1	452	c.361G>A	c.(361-363)Gcg>Acg	p.A121T	SIGLEC11_uc010ybi.2_Missense_Mutation_p.A121T	NM_052884	NP_443116	Q96RL6	SIG11_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 11 (SIGLEC11), transcript variant 1, mRNA.	121	Ig-like V-type.				cell adhesion	integral to membrane	sugar binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		TCCCTCTGCGCGTCTCTGATC	0.542000														24			13		0	0	1	0	0
EXPH5	23086	broad.mit.edu	37	11	108381194	108381194	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:108381194G>A	uc001pkk.3	-	5	5151	c.5040C>T	c.(5038-5040)aaC>aaT	p.N1680N	EXPH5_uc010rvz.2_Silent_p.N1524N|EXPH5_uc010rvy.2_Silent_p.N1492N	NM_015065	NP_055880	Q149M6	Q149M6_HUMAN	Homo sapiens exophilin 5 (EXPH5), mRNA.	1680					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		AAGGTTCTCTGTTGGGTAGTA	0.443000														180			19		0	0	1	0	0
MDN1	23195	broad.mit.edu	37	6	90513145	90513145	+	Silent	SNP	G	A	A	rs147300618	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:90513145G>A	uc003pnn.1	-	1	347	c.231C>T	c.(229-231)gcC>gcT	p.A77A	MDN1_uc003pnp.1_Silent_p.A77A	NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	Homo sapiens MDN1, midasin homolog (yeast) (MDN1), mRNA.	77					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TAATGGCTTCGGCATTCCTTT	0.493000														73			50		0	0	1	0	0
UNC5D	137970	broad.mit.edu	37	8	35579906	35579906	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:35579906C>T	uc003xjr.2	+	8	1624	c.1296C>T	c.(1294-1296)gtC>gtT	p.V432V	UNC5D_uc003xjs.2_Silent_p.V427V|UNC5D_uc003xju.2_5'Flank|UNC5D_uc003xjt.1_Silent_p.V190V	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN	Homo sapiens unc-5 homolog D (C. elegans) (UNC5D), mRNA.	432					apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		TCAAAACAGTCCGTCAAGGTC	0.552000														83			46		0	0	1	0	0
GTF3C1	2975	broad.mit.edu	37	16	27510034	27510034	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:27510034C>T	uc002dov.2	-	12	2122	c.2082G>A	c.(2080-2082)ccG>ccA	p.P694P	GTF3C1_uc002dou.3_Silent_p.P694P	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 1, alpha 220kDa (GTF3C1), mRNA.	694						transcription factor TFIIIC complex	DNA binding|protein binding	p.P694A(1)		breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						GGTCCATGGACGGGTGCACCA	0.582000														57			36		0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105416412	105416412	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:105416412G>A	uc010axc.1	-	6	5496	c.5376C>T	c.(5374-5376)gaC>gaT	p.D1792D	AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Silent_p.D1692D	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	1792						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GAGCCTCGACGTCCACCTCCA	0.632000														113			85		0	0	1	0	0
ITGB1	3688	broad.mit.edu	37	10	33199304	33199304	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:33199304T>C	uc001iws.4	-	13	2147	c.2011A>G	c.(2011-2013)Acc>Gcc	p.T671A	ITGB1_uc001iwr.4_Missense_Mutation_p.T671A|ITGB1_uc001iwt.4_Missense_Mutation_p.T671A	NM_133376	NP_596867	P05556	ITB1_HUMAN	Homo sapiens integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12) (ITGB1), transcript variant 1E, mRNA.	671					axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response	cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma	identical protein binding|protein heterodimerization activity|receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Ovarian(717;1.34e-05)|Breast(68;0.0634)				TCTACCTTGGTAATGTTAAAA	0.408000														29			26		0	0	1	0	0
MYCBP2	23077	broad.mit.edu	37	13	77670496	77670496	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:77670496C>T	uc021rks.1	-	56	10172	c.9905G>A	c.(9904-9906)cGc>cAc	p.R3302H	MYCBP2_uc010aev.3_Missense_Mutation_p.R2668H	NM_015057	NP_055872	O75592	MYCB2_HUMAN	Homo sapiens MYC binding protein 2 (MYCBP2), mRNA.	3264					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TTCTCTACAGCGATCACATAC	0.433000														83			32		0	0	1	0	0
ATG2A	23130	broad.mit.edu	37	11	64664287	64664287	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:64664287G>A	uc001obx.3	-	37	5320	c.5205C>T	c.(5203-5205)gaC>gaT	p.D1735D	ATG2A_uc001obw.3_Silent_p.D500D	NM_015104	NP_055919	Q2TAZ0	ATG2A_HUMAN	Homo sapiens ATG2 autophagy related 2 homolog A (S. cerevisiae) (ATG2A), mRNA.	1735							protein binding	p.D1735N(1)		breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						TCTTGCGGATGTCCTGCAGCC	0.637000											OREG0004026	type=REGULATORY REGION|Gene=BC027481|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		30			17		0	0	1	0	0
KCTD21	283219	broad.mit.edu	37	11	77885172	77885172	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:77885172G>A	uc001ozb.3	-	1	504	c.429C>T	c.(427-429)gtC>gtT	p.V143V	KCTD21_uc021qnx.1_Silent_p.V143V	NM_001029859	NP_001025030	Q4G0X4	KCD21_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 21 (KCTD21), mRNA.	143						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(2)	11	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.46e-24)			TGGCGTTGAAGACCTCCATGC	0.557000														36			21		0	0	1	0	0
GLI3	2737	broad.mit.edu	37	7	42004302	42004302	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:42004302C>A	uc011kbh.2	-	14	4460	c.4369G>T	c.(4369-4371)Gct>Tct	p.A1457S	GLI3_uc011kbg.2_Missense_Mutation_p.A1398S	NM_000168	NP_000159	P10071	GLI3_HUMAN	Homo sapiens GLI family zinc finger 3 (GLI3), mRNA.	1457					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						AATGAACCAGCTTTCGTGTCT	0.517000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly					48			17		3.41278e-10	4.10877e-10	1	1	0
abParts	0	broad.mit.edu	37	2	89340006	89340006	+	Splice_Site	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:89340006G>A	uc021vkt.1	-	81		c.6137_splice	c.e81-1		abParts_uc021vku.1_Intron					Parts of antibodies, mostly variable regions.																		TCTGGATGTCGCATCTGGAAC	0.458000														159			63		0	0	1	0	0
PTPRG	5793	broad.mit.edu	37	3	62254828	62254828	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:62254828A>G	uc003dlb.3	+	19	3712	c.2993A>G	c.(2992-2994)aAt>aGt	p.N998S	PTPRG_uc003dlc.3_Missense_Mutation_p.N969S|PTPRG_uc011bfi.2_Missense_Mutation_p.N244S|LOC100506994_uc003dld.4_Intron|LOC100506994_uc010hnp.3_Intron|LOC100506994_uc003dle.4_Intron|LOC100506994_uc010hno.3_Intron	NM_002841	NP_002832	P23470	PTPRG_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, G (PTPRG), mRNA.	998	Tyrosine-protein phosphatase 1.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		TCAATCAGAAATACAAAAGTG	0.403000														64			25		0	0	1	0	0
GRID2	2895	broad.mit.edu	37	4	94693399	94693399	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:94693399C>T	uc011cdt.2	+	15	3032	c.2774C>T	c.(2773-2775)aCt>aTt	p.T925I	GRID2_uc011cdu.2_Missense_Mutation_p.T830I	NM_001510	NP_001501	O43424	GRID2_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 2 (GRID2), mRNA.	925	Interaction with AP4M1 (By similarity).				glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	TTCAGGAACACTCATATTACC	0.458000														52			28		0	0	1	0	0
ATMIN	23300	broad.mit.edu	37	16	81069745	81069745	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:81069745C>T	uc002ffz.1	+	0	288	c.270C>T	c.(268-270)ggC>ggT	p.G90G	ATMIN_uc002fga.2_5'Flank|ATMIN_uc010vnn.1_5'Flank	NM_015251	NP_056066	O43313	ATMIN_HUMAN	Homo sapiens ATM interactor (ATMIN), mRNA.	90					response to DNA damage stimulus	nucleus	zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	20						CCGTGCGCGGCTGCGGCAAGA	0.746000														8			9		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140725817	140725817	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140725817C>T	uc003ljm.2	+	0	2217	c.2217C>T	c.(2215-2217)caC>caT	p.H739H	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc011dap.2_Silent_p.H739H	NM_018916	NP_061739	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 3 (PCDHGA3), transcript variant 1, mRNA.	740					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)			CCGGCTCGCACTTTGTGGGCG	0.667000														36			26		0	0	1	0	0
HIRIP3	8479	broad.mit.edu	37	16	30005816	30005816	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:30005816G>T	uc002dve.3	-	3	1141	c.650C>A	c.(649-651)aCt>aAt	p.T217N	BOLA2_uc010bzb.1_Intron|INO80E_uc002dvg.1_5'Flank|INO80E_uc002dvh.1_5'Flank|HIRIP3_uc002dvf.3_Intron	NM_003609	NP_003600	Q9BW71	HIRP3_HUMAN	Homo sapiens HIRA interacting protein 3 (HIRIP3), transcript variant 1, mRNA.	217	Glu-rich.				chromatin assembly or disassembly	nucleus	protein binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(9)	17						CAGGCTTTTAGTTCCTTTATT	0.507000														125			87		2.36867e-37	3.14365e-37	1	1	0
KNTC1	9735	broad.mit.edu	37	12	123047224	123047224	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:123047224G>A	uc001ucv.3	+	19	1745	c.1582G>A	c.(1582-1584)Gca>Aca	p.A528T	KNTC1_uc010taf.2_Missense_Mutation_p.A491T	NM_014708	NP_055523	P50748	KNTC1_HUMAN	Homo sapiens kinetochore associated 1 (KNTC1), mRNA.	528					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		TTTTTATGGAGCATTTGGACC	0.343000														11			9		0	0	1	0	0
SH3BP5	9467	broad.mit.edu	37	3	15298412	15298412	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:15298412G>A	uc003bzp.1	-	7	1287	c.1098C>T	c.(1096-1098)ggC>ggT	p.G366G	SH3BP5_uc003bzq.1_Silent_p.G209G|SH3BP5_uc003bzr.1_Silent_p.G209G|AL133111_uc003bzo.1_Non-coding_Transcript	NM_004844	NP_001018009	O60239	3BP5_HUMAN	Homo sapiens SH3-domain binding protein 5 (BTK-associated) (SH3BP5), transcript variant 1, mRNA.	366	Ser-rich.				intracellular signal transduction	mitochondrion	SH3 domain binding|protein kinase inhibitor activity			NS(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	12						CACTTCGAGGGCCCAACACTG	0.597000														17			11		0	0	1	0	0
IFNK	56832	broad.mit.edu	37	9	27524785	27524785	+	Nonsense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:27524785G>T	uc022bez.1	+	0	451	c.451G>T	c.(451-453)Gaa>Taa	p.E151*	MOB3B_uc003zqn.3_Intron|IFNK_uc003zqp.3_Nonsense_Mutation_p.E151*	NM_020124	NP_064509	Q9P0W0	IFNK_HUMAN	Homo sapiens interferon, kappa (IFNK), mRNA.	151					cytokine-mediated signaling pathway|defense response|natural killer cell activation|negative regulation of cell proliferation|positive regulation of innate immune response|regulation of transcription, DNA-dependent|response to virus	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			large_intestine(1)	1		all_neural(11;7.9e-11)		LUSC - Lung squamous cell carcinoma(38;0.0001)|Lung(218;0.000158)		GAAACCCTCAGAAGCCAGGGT	0.443000														36			25		1.85244e-09	2.20857e-09	1	1	0
CYP2U1	113612	broad.mit.edu	37	4	108871448	108871448	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:108871448C>A	uc003hyp.3	+	4	1587	c.1504C>A	c.(1504-1506)Cta>Ata	p.L502I	CYP2U1_uc011cfi.2_Missense_Mutation_p.L293I	NM_183075	NP_898898	Q7Z449	CP2U1_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily U, polypeptide 1 (CYP2U1), mRNA.	502					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			breast(1)|large_intestine(2)|lung(4)|skin(2)|urinary_tract(1)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000128)		GGAATTATTCCTAATGTTTGT	0.413000														127			9		0.000442599	0.000473562	1	1	0
CDC42BPA	8476	broad.mit.edu	37	1	227335230	227335230	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:227335230C>A	uc001hqr.3	-	6	1667	c.724G>T	c.(724-726)Gat>Tat	p.D242Y	CDC42BPA_uc001hqs.3_Missense_Mutation_p.D242Y|CDC42BPA_uc009xes.3_Missense_Mutation_p.D242Y|CDC42BPA_uc010pvs.2_Missense_Mutation_p.D242Y	NM_003607	NP_003598	Q5VT25	MRCKA_HUMAN	Homo sapiens CDC42 binding protein kinase alpha (DMPK-like) (CDC42BPA), transcript variant B, mRNA.	242	Protein kinase.				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				GAGATATAATCTGGAGTTCCT	0.348000														51			30		9.78485e-24	1.27607e-23	1	1	0
GGH	8836	broad.mit.edu	37	8	63948219	63948219	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:63948219C>T	uc003xuw.3	-	1	503	c.220G>A	c.(220-222)Gta>Ata	p.V74I		NM_003878	NP_003869	Q92820	GGH_HUMAN	Homo sapiens gamma-glutamyl hydrolase (conjugase, folylpolygammaglutamyl hydrolase) (GGH), mRNA.	74	Gamma-glutamyl hydrolase.				glutamine metabolic process	extracellular space|lysosome|melanosome	gamma-glutamyl-peptidase activity			breast(1)|kidney(1)|large_intestine(1)|liver(1)|lung(6)|stomach(1)	11	Breast(64;0.0716)	all_cancers(86;0.189)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.131)			Folic Acid(DB00158)|L-Glutamic Acid(DB00142)	TCATACCTTACTGGTACAACT	0.393000														54			13		0	0	1	0	0
EPHA7	2045	broad.mit.edu	37	6	94120851	94120851	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:94120851G>A	uc003poe.3	-	2	441	c.200C>T	c.(199-201)cCg>cTg	p.P67L	EPHA7_uc003pof.3_Missense_Mutation_p.P67L|EPHA7_uc011eac.2_Missense_Mutation_p.P67L|EPHA7_uc003pog.4_Missense_Mutation_p.P67L	NM_004440	NP_004431	Q15375	EPHA7_HUMAN	Homo sapiens EPH receptor A7 (EPHA7), mRNA.	67						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		TGTTCGTATCGGGGTATAGTT	0.393000														120			7		0	0	1	0	0
LTBP1	4052	broad.mit.edu	37	2	33623537	33623537	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:33623537G>A	uc021vft.1	+	33	5114	c.5091G>A	c.(5089-5091)gtG>gtA	p.V1697V	LTBP1_uc002rou.3_Silent_p.V1371V|LTBP1_uc002rov.3_Silent_p.V1318V|LTBP1_uc010ymz.2_Silent_p.V1329V|LTBP1_uc010yna.2_Silent_p.V1276V|LTBP1_uc010ynb.2_Silent_p.V595V	NM_206943	NP_996826	Q14766	LTBP1_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 1 (LTBP1), transcript variant 1, mRNA.	1697	EGF-like 18; calcium-binding (Potential).				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				CAGGCTACGTGCCTTCTGACA	0.463000														33			20		0	0	1	0	0
GSTCD	79807	broad.mit.edu	37	4	106640343	106640343	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:106640343G>A	uc003hxz.4	+	2	625	c.553G>A	c.(553-555)Gag>Aag	p.E185K	GSTCD_uc003hxx.2_Missense_Mutation_p.E185K|GSTCD_uc003hxy.4_Missense_Mutation_p.E98K|GSTCD_uc011cfb.2_Intron|GSTCD_uc010ils.2_Missense_Mutation_p.E185K	NM_001031720	NP_001026890	Q8NEC7	GSTCD_HUMAN	Homo sapiens glutathione S-transferase, C-terminal domain containing (GSTCD), transcript variant 1, mRNA.	185	GST C-terminal.					cytoplasm	rRNA methyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	14		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.15e-07)|READ - Rectum adenocarcinoma(30;0.139)		AAAGCTTAGTGAGCCTGTTAG	0.453000														81			50		0	0	1	0	0
DDX11	1663	broad.mit.edu	37	12	31236770	31236770	+	Silent	SNP	T	C	C	rs143234228		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:31236770T>C	uc001rjt.1	+	2	419	c.168T>C	c.(166-168)tgT>tgC	p.C56C	DDX11_uc010sjw.1_Silent_p.C56C|DDX11_uc010sjx.1_Non-coding_Transcript|DDX11_uc001rjr.1_Silent_p.C56C|DDX11_uc001rjs.1_Silent_p.C56C|DDX11_uc001rju.1_5'UTR|DDX11_uc001rjv.1_Silent_p.C56C|DDX11_uc001rjw.1_Silent_p.C30C	NM_152438	NP_689651	Q96FC9	DDX11_HUMAN	Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (DDX11), transcript variant 3, mRNA.	56	Helicase ATP-binding.				G2/M transition of mitotic cell cycle|S phase of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|RNA binding|protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					GTCTTATTTGTGGGGCCCTCT	0.438000										Multiple Myeloma(12;0.14)				58			6		0	0	1	0	0
CREBBP	1387	broad.mit.edu	37	16	3786041	3786041	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:3786041G>T	uc002cvv.3	-	27	4928	c.4724C>A	c.(4723-4725)aCt>aAt	p.T1575N	CREBBP_uc002cvw.3_Missense_Mutation_p.T1537N	NM_004380	NP_004371	Q92793	CBP_HUMAN	Homo sapiens CREB binding protein (CREBBP), transcript variant 1, mRNA.	1575	Interaction with TRERF1.				N-terminal peptidyl-lysine acetylation|cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	MyoD binding|histone acetyltransferase activity|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)		CTGTACCTCAGTGGTTTCACT	0.542000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome							71			11		1.58986e-06	1.80238e-06	1	1	0
FGF16	8823	broad.mit.edu	37	X	76711988	76711988	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:76711988C>T	uc011mqp.2	+	1	326	c.326C>T	c.(325-327)tCc>tTc	p.S109F		NM_003868	NP_003859	O43320	FGF16_HUMAN	Homo sapiens fibroblast growth factor 16 (FGF16), mRNA.	200					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|metabolic process|organ morphogenesis|response to temperature stimulus	extracellular space	growth factor activity			NS(1)|breast(1)|lung(2)	4						CCCTCCATGTCCAGAGACCTC	0.502000														86			42		0	0	1	0	0
PRKCQ	5588	broad.mit.edu	37	10	6557047	6557047	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:6557047G>A	uc001iji.1	-	0	234	c.150C>T	c.(148-150)tgC>tgT	p.C50C	PRKCQ_uc001ijj.2_Silent_p.C17C|PRKCQ_uc009xim.2_Silent_p.C17C|PRKCQ_uc009xin.2_5'UTR|PRKCQ_uc010qax.2_5'UTR	NM_006257	NP_006248	Q04759	KPCT_HUMAN	Homo sapiens protein kinase C, theta (PRKCQ), transcript variant 1, mRNA.	17	C2.				T cell receptor signaling pathway|axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						GACAAGACTGGCAGGACCCGC	0.512000														33			8		0	0	1	0	0
C9orf86	55684	broad.mit.edu	37	9	139722960	139722960	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:139722960C>T	uc004cjj.1	+	3	785	c.328C>T	c.(328-330)Cga>Tga	p.R110*	C9orf86_uc004cjm.2_Nonsense_Mutation_p.R110*|C9orf86_uc004cjh.3_Nonsense_Mutation_p.R110*|C9orf86_uc004cji.1_Nonsense_Mutation_p.R110*|C9orf86_uc004cjk.1_Non-coding_Transcript|C9orf86_uc004cjl.1_Non-coding_Transcript|C9orf86_uc010nbs.1_5'UTR|MIR4292_uc022bpu.1_5'Flank	NM_001173988	NP_001167459	Q3YEC7	PARF_HUMAN	Homo sapiens chromosome 9 open reading frame 86 (C9orf86), transcript variant 3, mRNA.	110	Small GTPase-like.				small GTPase mediated signal transduction	cytoplasm|nucleus	GTP binding|protein binding			endometrium(4)|kidney(1)|lung(4)	9	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.61e-05)|Epithelial(140;0.000183)		ATGCAAAAAGCGAGGCGACGG	0.572000														20			16		0	0	1	0	0
SERPINB13	5275	broad.mit.edu	37	18	61264593	61264593	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:61264593C>A	uc010xep.2	+	7	1367	c.1199C>A	c.(1198-1200)cCt>cAt	p.P400H	SERPINB13_uc002ljc.3_Missense_Mutation_p.P391H|SERPINB13_uc002ljd.3_Missense_Mutation_p.P255H|SERPINB13_uc010xeq.2_Missense_Mutation_p.P212H|SERPINB13_uc010xer.2_Missense_Mutation_p.P212H	NM_012397	NP_036529	Q9UIV8	SPB13_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 13 (SERPINB13), mRNA.	391					regulation of proteolysis|response to UV	cytoplasm|extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						TTTTCTTCTCCTTAAGATGAT	0.403000														46			36		6.70999e-13	8.30224e-13	1	1	0
MET	4233	broad.mit.edu	37	7	116399498	116399498	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:116399498C>T	uc003vij.3	+	9	2505	c.2318C>T	c.(2317-2319)cCg>cTg	p.P773L	MET_uc022akk.1_Missense_Mutation_p.P773L|MET_uc010lkh.3_Missense_Mutation_p.P791L|MET_uc011kng.1_Missense_Mutation_p.P773L|MET_uc011knh.1_Intron|MET_uc011kni.2_Missense_Mutation_p.P773L|MET_uc011knj.2_Missense_Mutation_p.P343L	NM_000245	NP_000236	P08581	MET_HUMAN	Homo sapiens met proto-oncogene (hepatocyte growth factor receptor) (MET), transcript variant 2, mRNA.	773	IPT/TIG 3.		P -> L (in gastric cancer).		axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			GTTAGTGTCCCGAGAATGGTC	0.433000			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)					16			7		0	0	1	0	0
SLC13A2	9058	broad.mit.edu	37	17	26817589	26817589	+	Missense_Mutation	SNP	G	A	A	rs11568463		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:26817589G>A	uc010wan.2	+	2	563	c.496G>A	c.(496-498)Gtt>Att	p.V166I	SLC13A2_uc010wal.1_Missense_Mutation_p.V74I|SLC13A2_uc010wam.2_Missense_Mutation_p.V73I|SLC13A2_uc002hbh.3_Missense_Mutation_p.V117I|SLC13A2_uc010wao.2_Missense_Mutation_p.V74I|SLC13A2_uc002hbi.3_Missense_Mutation_p.V46I	NM_001145975	NP_001139447	Q13183	S13A2_HUMAN	Homo sapiens solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2 (SLC13A2), transcript variant 1, mRNA.	117						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)	CCTCCTCATCGTTGGGGTGCG	0.607000														33			21		0	0	1	0	0
BEND5	79656	broad.mit.edu	37	1	49224836	49224836	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:49224836C>T	uc001crx.4	-	2	525	c.481G>A	c.(481-483)Gtg>Atg	p.V161M	AGBL4_uc001cru.2_Intron|AGBL4_uc010omw.1_Intron|AGBL4_uc010omx.1_Intron|AGBL4_uc010omy.1_Intron|AGBL4_uc001crv.1_Intron|BEND5_uc001crw.4_5'UTR	NM_024603	NP_078879	Q7L4P6	BEND5_HUMAN	Homo sapiens BEN domain containing 5 (BEND5), mRNA.	161										large_intestine(5)|lung(2)|skin(1)	8						GAGGCCTCCACGAAGACCTCT	0.612000														13			7		0	0	1	0	0
HIVEP1	3096	broad.mit.edu	37	6	12120776	12120776	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:12120776G>A	uc003nac.3	+	3	927	c.748G>A	c.(748-750)Gaa>Aaa	p.E250K	HIVEP1_uc011diq.2_Non-coding_Transcript	NM_002114	NP_002105	P15822	ZEP1_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 1 (HIVEP1), mRNA.	250					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				GACTTCACAGGAATTGGTTGC	0.423000														94			52		0	0	1	0	0
ACSL3	2181	broad.mit.edu	37	2	223787865	223787865	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:223787865C>T	uc002vni.3	+	9	1601	c.1150C>T	c.(1150-1152)Ccg>Tcg	p.P384S	ACSL3_uc002vnj.3_Missense_Mutation_p.P384S	NM_004457	NP_976251	O95573	ACSL3_HUMAN	Homo sapiens acyl-CoA synthetase long-chain family member 3 (ACSL3), transcript variant 1, mRNA.	384					long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|fatty-acyl-CoA synthase activity|long-chain fatty acid-CoA ligase activity|protein binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)|skin(2)	22		Renal(207;0.0183)		Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864)	Icosapent(DB00159)	GGCAGCAGTTCCGGTAAGAAG	0.333000			T	ETV1	prostate									19			15		0	0	1	0	0
RAPGEF6	51735	broad.mit.edu	37	5	130815253	130815253	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:130815253C>T	uc003kvn.2	-	15	2240	c.2034G>A	c.(2032-2034)aaG>aaA	p.K678K	RAPGEF6_uc003kvp.2_Silent_p.K728K|RAPGEF6_uc003kvo.2_Silent_p.K678K|RAPGEF6_uc010jdi.2_Silent_p.K678K|RAPGEF6_uc010jdj.2_Silent_p.K678K|RAPGEF6_uc003kvq.3_Silent_p.K395K|RAPGEF6_uc011cxe.2_Non-coding_Transcript|RAPGEF6_uc003kvr.3_Silent_p.K678K|RAPGEF6_uc010jdk.3_Silent_p.K678K	NM_016340	NP_057424	Q8TEU7	RPGF6_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 6 (RAPGEF6), transcript variant 2, mRNA.	678					Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|Ras GTPase binding|guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		TATCCAAAATCTTCCTGATTT	0.373000														51			32		0	0	1	0	0
SOX5	6660	broad.mit.edu	37	12	23908572	23908572	+	Splice_Site	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:23908572C>A	uc001rfw.3	-	4	670	c.568_splice	c.e4+1	p.G190_splice	SOX5_uc001rfx.3_Splice_Site_p.G177_splice|SOX5_uc001rfy.3_Splice_Site_p.G177_splice|SOX5_uc010siv.2_Splice_Site_p.G177_splice|SOX5_uc010siw.1_Splice_Site|SOX5_uc001rfz.1_Splice_Site_p.G142_splice	NM_006940	NP_694534	P35711	SOX5_HUMAN	Homo sapiens SRY (sex determining region Y)-box 5 (SOX5), transcript variant 1, mRNA.	190					transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						ACCATATTACCTTTTATTTCG	0.363000														55			9		0.00448238	0.0046769	1	1	0
THSD1P1	374500	broad.mit.edu	37	13	52742420	52742420	+	RNA	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:52742420C>T	uc001vgm.1	-	21		c.3208G>A			THSD1P1_uc001vgk.2_Non-coding_Transcript|THSD1P1_uc010adx.1_Non-coding_Transcript|THSD1P1_uc010ady.1_Non-coding_Transcript|THSD1P1_uc001vgl.1_Non-coding_Transcript					Homo sapiens thrombospondin, type I, domain containing 1 pseudogene 1 (THSD1P1), non-coding RNA.																		TCCTGCCTGGCGATCCCCAAG	0.473000														21			9		0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76447622	76447622	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:76447622T>C	uc010dhp.2	-	65	10788	c.10663A>G	c.(10663-10665)Agg>Ggg	p.R3555G	DNAH17_uc002jvq.3_5'Flank|DNAH17_uc002jvs.3_Non-coding_Transcript	NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			AGTCCATCCCTGGTGACCAGG	0.562000														124			13		0	0	1	0	0
GABRG1	2565	broad.mit.edu	37	4	46060347	46060347	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:46060347C>A	uc003gxb.3	-	6	955	c.803G>T	c.(802-804)aGa>aTa	p.R268I		NM_173536	NP_775807	Q8N1C3	GBRG1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 1 (GABRG1), mRNA.	268					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	p.S267S(1)		breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		TCCCATTCTTCTGCTCAGGTC	0.318000														39			20		6.44725e-10	7.73661e-10	1	1	0
DEPDC5	9681	broad.mit.edu	37	22	32242867	32242867	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:32242867G>A	uc011alu.2	+	30	3271	c.3069G>A	c.(3067-3069)acG>acA	p.T1023T	DEPDC5_uc011als.2_Silent_p.T945T|DEPDC5_uc003als.3_Silent_p.T1014T|DEPDC5_uc011alv.2_Non-coding_Transcript|DEPDC5_uc003alt.3_Silent_p.T1014T|DEPDC5_uc003alv.3_Non-coding_Transcript|DEPDC5_uc003alu.3_Silent_p.T463T|DEPDC5_uc011alw.1_Silent_p.T344T|DEPDC5_uc003alw.3_Silent_p.T312T|DEPDC5_uc011alx.2_Intron|DEPDC5_uc010gwk.3_Silent_p.T18T	NM_001242896	NP_001229825	O75140	DEPD5_HUMAN	Homo sapiens DEP domain containing 5 (DEPDC5), transcript variant 4, mRNA.	1014					intracellular signal transduction					breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						CCATTTCCACGCATTCTCTGG	0.552000														61			7		0	0	1	0	0
ADAMTS14	140766	broad.mit.edu	37	10	72468457	72468457	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:72468457C>T	uc001jrg.3	+	3	793	c.793C>T	c.(793-795)Ctg>Ttg	p.L265L	ADAMTS14_uc001jrh.3_Silent_p.L265L	NM_139155	NP_631894	Q8WXS8	ATS14_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 14 (ADAMTS14), transcript variant 1, mRNA.	265	Peptidase M12B.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						CGAGGTGCTGCTGGTGGTGGA	0.602000														47			24		0	0	1	0	0
DDX46	9879	broad.mit.edu	37	5	134109457	134109457	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:134109457G>A	uc003kzw.3	+	4	687	c.519G>A	c.(517-519)gaG>gaA	p.E173E	DDX46_uc003kzv.1_Non-coding_Transcript	NM_014829	NP_055644	Q7L014	DDX46_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 46 (DDX46), mRNA.	173					RNA splicing|mRNA processing	Cajal body|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding			NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GGCGAGAAGAGCAACGTAAAA	0.373000														17			14		0	0	1	0	0
INO80D	54891	broad.mit.edu	37	2	206872026	206872026	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:206872026C>A	uc002vaz.4	-	9	2305	c.1900G>T	c.(1900-1902)Gat>Tat	p.D634Y		NM_017759	NP_060229	Q53TQ3	IN80D_HUMAN	Homo sapiens INO80 complex subunit D (INO80D), mRNA.	634					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	26						AAATCAAAATCTTGTAAGTCA	0.353000														32			18		5.3912e-06	6.03622e-06	1	1	0
NARG2	79664	broad.mit.edu	37	15	60760498	60760498	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:60760498G>T	uc002agp.3	-	3	405	c.170C>A	c.(169-171)gCc>gAc	p.A57D	NARG2_uc002ago.3_Intron|NARG2_uc010bgk.3_Missense_Mutation_p.A57D|NARG2_uc002agr.1_Missense_Mutation_p.A57D	NM_024611	NP_001018099	Q659A1	NARG2_HUMAN	Homo sapiens NMDA receptor regulated 2 (NARG2), transcript variant 1, mRNA.	57						nucleus				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	32						ACTTGCTGAGGCATTCAAATT	0.343000														42			28		1.39806e-14	1.75303e-14	1	1	0
HMG20A	10363	broad.mit.edu	37	15	77750753	77750753	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:77750753G>A	uc002bcr.3	+	2	205	c.4G>A	c.(4-6)Gaa>Aaa	p.E2K	HMG20A_uc002bcq.1_Missense_Mutation_p.E2K|HMG20A_uc002bcs.3_Missense_Mutation_p.E2K	NM_018200	NP_060670	Q9NP66	HM20A_HUMAN	Homo sapiens high mobility group 20A (HMG20A), mRNA.	2					chromatin modification	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						CAGAGAGATGGAAAACTTGAT	0.403000														43			7		0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103412484	103412484	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:103412484C>T	uc001dum.3	-	41	3551	c.3233G>A	c.(3232-3234)gGt>gAt	p.G1078D	COL11A1_uc001duk.3_Missense_Mutation_p.G262D|COL11A1_uc001dul.3_Missense_Mutation_p.G1066D|COL11A1_uc001dun.3_Missense_Mutation_p.G1027D|COL11A1_uc009weh.3_Missense_Mutation_p.G950D	NM_080629	NP_542196	P12107	COBA1_HUMAN	Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA.	1066	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	p.A1077T(1)|p.G1078S(1)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GCCAGCTGTACCTGCTGACCC	0.463000														25			10		0	0	1	0	0
TIFAB	497189	broad.mit.edu	37	5	134785473	134785473	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:134785473G>A	uc003law.4	-	1	358	c.157C>T	c.(157-159)Ctc>Ttc	p.L53F	C5orf20_uc003lav.3_5'Flank|TIFAB_uc021ydu.1_Missense_Mutation_p.L53F	NM_001099221	NP_001092691	Q6ZNK6	TIFAB_HUMAN	Homo sapiens TRAF-interacting protein with forkhead-associated domain, family member B (TIFAB), mRNA.	53	FHA.									breast(1)|endometrium(1)|liver(1)|lung(5)	8			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CGGCGGGAGAGGCGAGGGAGC	0.657000														23			30		0	0	1	0	0
SMCHD1	23347	broad.mit.edu	37	18	2666211	2666211	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:2666211A>G	uc002klm.4	+	1	431	c.242A>G	c.(241-243)gAa>gGa	p.E81G		NM_015295	NP_056110	A6NHR9	SMHD1_HUMAN	Homo sapiens structural maintenance of chromosomes flexible hinge domain containing 1 (SMCHD1), mRNA.	81					chromosome organization		ATP binding			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						AGTAGGAAAGAAATTACCTGT	0.259000														8			5		0	0	1	0	0
CDKL3	51265	broad.mit.edu	37	5	133534873	133534873	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:133534873C>T	uc003kze.3	-	5	1159	c.761G>A	c.(760-762)cGg>cAg	p.R254Q		NM_002715	NP_002706	Q8IVW4	CDKL3_HUMAN	Homo sapiens protein phosphatase 2, catalytic subunit, alpha isozyme (PPP2CA), mRNA.	0	Protein kinase.					cytoplasm	ATP binding|cyclin-dependent protein kinase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(3)	11			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TACTACATTCCGGTCATGGCA	0.368000														48			19		0	0	1	0	0
ACSBG1	23205	broad.mit.edu	37	15	78473133	78473133	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:78473133G>A	uc002bdh.3	-	8	1423	c.1217C>T	c.(1216-1218)tCg>tTg	p.S406L	ACSBG1_uc010umx.2_Missense_Mutation_p.S164L|ACSBG1_uc010umw.2_Missense_Mutation_p.S402L|ACSBG1_uc010umy.2_Missense_Mutation_p.S299L	NM_015162	NP_055977	Q96GR2	ACBG1_HUMAN	Homo sapiens acyl-CoA synthetase bubblegum family member 1 (ACSBG1), transcript variant 1, mRNA.	406					long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process	cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome	ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity			endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						CAAGGTCACCGACATGGCCCA	0.637000														44			20		0	0	1	0	0
RIF1	55183	broad.mit.edu	37	2	152292042	152292042	+	Silent	SNP	G	A	A	rs149346205		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:152292042G>A	uc002txm.3	+	10	1304	c.1143G>A	c.(1141-1143)tcG>tcA	p.S381S	RIF1_uc010fnv.2_Silent_p.S345S|RIF1_uc002txn.3_Silent_p.S381S|RIF1_uc002txl.3_Silent_p.S381S|RIF1_uc002txo.3_Silent_p.S381S|RIF1_uc010zby.1_Intron	NM_018151	NP_060621	Q5UIP0	RIF1_HUMAN	Homo sapiens RAP1 interacting factor homolog (yeast) (RIF1), transcript variant 1, mRNA.	381					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		AGGGCAATTCGTGTCATGTAG	0.368000														94			79		0	0	1	0	0
CAB39	51719	broad.mit.edu	37	2	231683256	231683256	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:231683256C>T	uc002vqx.3	+	8	1295	c.863C>T	c.(862-864)aCg>aTg	p.T288M	CAB39_uc010fxr.3_Missense_Mutation_p.T288M|CAB39_uc010fxq.3_Missense_Mutation_p.T288M|CAB39_uc002vqy.3_Missense_Mutation_p.T43M	NM_016289	NP_057373	Q9Y376	CAB39_HUMAN	Homo sapiens calcium binding protein 39 (CAB39), transcript variant 1, mRNA.	288					cell cycle arrest|insulin receptor signaling pathway|regulation of fatty acid oxidation	cytosol	kinase binding			central_nervous_system(1)|large_intestine(1)|skin(1)	3		all_lung(227;4.63e-07)|all_hematologic(139;1.83e-06)|Lung NSC(271;2.11e-05)|Acute lymphoblastic leukemia(138;5.51e-05)|Hepatocellular(293;0.0207)|Lung SC(224;0.187)		all cancers(144;1.64e-12)|Epithelial(121;5.29e-11)|LUSC - Lung squamous cell carcinoma(224;0.0154)|Lung(119;0.0177)|COAD - Colon adenocarcinoma(134;0.226)		CCTAACAAGACGCAGCCCATC	0.527000														30			12		0	0	1	0	0
GPR15	2838	broad.mit.edu	37	3	98251792	98251792	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:98251792C>T	uc011bgy.2	+	0	915	c.915C>T	c.(913-915)ttC>ttT	p.F305F		NM_005290	NP_005281	P49685	GPR15_HUMAN	Homo sapiens G protein-coupled receptor 15 (GPR15), mRNA.	305						integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255)		Lung(72;0.246)		ACTATATCTTCGACAGCTACA	0.473000														46			25		0	0	1	0	0
PANK2	80025	broad.mit.edu	37	20	3888790	3888790	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:3888790G>A	uc002wkc.3	+	1	852	c.846G>A	c.(844-846)ctG>ctA	p.L282L	PANK2_uc002wkb.3_5'UTR|PANK2_uc010gbd.1_Non-coding_Transcript|PANK2_uc002wkd.3_Intron|PANK2_uc002wke.3_5'UTR|PANK2_uc002wkf.3_Intron	NM_153638	NP_705902	Q9BZ23	PANK2_HUMAN	Homo sapiens pantothenate kinase 2 (PANK2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	282			L -> V (in NBIA1).		cell death|coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial intermembrane space|nucleus	ATP binding|pantothenate kinase activity|protein binding	p.L282L(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						AAGGCAATCTGCACTTTATAC	0.498000														89			6		0	0	1	0	0
CHRNB3	1142	broad.mit.edu	37	8	42552708	42552708	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:42552708C>T	uc003xpi.1	+	0	147	c.19C>T	c.(19-21)Ctg>Ttg	p.L7L		NM_000749	NP_000740	Q05901	ACHB3_HUMAN	Homo sapiens cholinergic receptor, nicotinic, beta 3 (CHRNB3), mRNA.	7					synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)			AGATTTTATGCTGGTTCTCAT	0.398000														52			38		0	0	1	0	0
RBFOX1	54715	broad.mit.edu	37	16	7568364	7568364	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:7568364C>T	uc002cys.2	+	4	1231	c.243C>T	c.(241-243)agC>agT	p.S81S	RBFOX1_uc010buf.1_Silent_p.S81S|RBFOX1_uc002cyr.1_Silent_p.S81S|RBFOX1_uc002cyt.2_Silent_p.S81S|RBFOX1_uc010uxz.1_Silent_p.S124S|RBFOX1_uc010uya.1_Silent_p.S117S|RBFOX1_uc002cyv.1_Silent_p.S81S|RBFOX1_uc010uyb.1_Silent_p.S81S|RBFOX1_uc002cyw.2_Silent_p.S101S|RBFOX1_uc002cyy.2_Silent_p.S101S|RBFOX1_uc002cyx.2_Silent_p.S101S|RBFOX1_uc010uyc.1_Silent_p.S101S	NM_018723	NP_061193	Q9NWB1	RFOX1_HUMAN	Homo sapiens RNA binding protein, fox-1 homolog (C. elegans) 1 (RBFOX1), transcript variant 4, mRNA.	81					RNA splicing|RNA transport|mRNA processing	nucleus|trans-Golgi network	RNA binding|nucleotide binding|protein C-terminus binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						CGGACACGAGCGCTCAGACCG	0.657000														63			36		0	0	1	0	0
CRAMP1L	57585	broad.mit.edu	37	16	1710039	1710039	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:1710039G>A	uc010uvh.2	+	9	2388	c.2388G>A	c.(2386-2388)ccG>ccA	p.P796P	CRAMP1L_uc002cmf.3_Non-coding_Transcript	NM_020825	NP_065876	Q96RY5	CRML_HUMAN	Homo sapiens Crm, cramped-like (Drosophila) (CRAMP1L), mRNA.	796						nucleus	DNA binding	p.P796L(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						AGACCTTCCCGCCCAGCTCTG	0.682000														5			7		0	0	1	0	0
ATP5J2-PTCD1	100526740	broad.mit.edu	37	7	99022750	99022750	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:99022750C>A	uc011kiw.2	-	6	1612	c.1552G>T	c.(1552-1554)Ggg>Tgg	p.G518W	ATP5J2-PTCD1_uc003uqh.3_Missense_Mutation_p.G469W	NM_001198879	NP_001185808	B4DJ38	B4DJ38_HUMAN	Homo sapiens ATP5J2-PTCD1 readthrough (ATP5J2-PTCD1), mRNA.	518																	TCCAGGCCCCCTATCAAGGCC	0.657000														75			9		0.000274275	0.000294507	1	1	0
USH2A	7399	broad.mit.edu	37	1	216061838	216061838	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:216061838G>A	uc001hku.1	-	40	8540	c.8153C>T	c.(8152-8154)aCc>aTc	p.T2718I		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	2718	Fibronectin type-III 13.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GGGTCTTGTGGTAACTTCTAC	0.507000										HNSCC(13;0.011)				23			17		0	0	1	0	0
HHIP	64399	broad.mit.edu	37	4	145635498	145635498	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:145635498T>C	uc003ijs.2	+	8	2225	c.1545T>C	c.(1543-1545)aaT>aaC	p.N515N		NM_022475	NP_071920	Q96QV1	HHIP_HUMAN	Homo sapiens hedgehog interacting protein (HHIP), mRNA.	515						cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		GAGATCGTAATGGGTAGGTTT	0.388000														28			15		0	0	1	0	0
ATRIP	84126	broad.mit.edu	37	3	48498762	48498762	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:48498762C>A	uc003ctf.1	+	4	807	c.775C>A	c.(775-777)Ctt>Att	p.L259I	ATRIP_uc011bbj.1_Missense_Mutation_p.L132I|ATRIP_uc003ctg.1_Missense_Mutation_p.L259I|TREX1_uc010hjy.3_5'Flank	NM_130384	NP_569055	Q8WXE1	ATRIP_HUMAN	Homo sapiens ATR interacting protein (ATRIP), transcript variant 1, mRNA.	259					DNA damage checkpoint|DNA repair|DNA replication	nucleoplasm	protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)	22				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TAACATGTCCCTTCCCCACCC	0.438000								Other conserved DNA damage response genes						28			4		0.00909568	0.00940365	1	1	0
NCSTN	23385	broad.mit.edu	37	1	160318821	160318821	+	Missense_Mutation	SNP	G	A	A	rs12045198	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:160318821G>A	uc001fvx.3	+	2	347	c.223G>A	c.(223-225)Gta>Ata	p.V75I	NCSTN_uc009wtk.1_Non-coding_Transcript|NCSTN_uc001fvy.3_Missense_Mutation_p.V55I|NCSTN_uc010pjf.2_Missense_Mutation_p.V75I|NCSTN_uc010pjg.2_5'Flank	NM_015331	NP_056146	Q92542	NICA_HUMAN	Homo sapiens nicastrin (NCSTN), mRNA.	75			V -> I (in dbSNP:rs12045198).		Notch receptor processing|Notch signaling pathway|amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|positive regulation of catalytic activity|protein processing	Golgi apparatus|endoplasmic reticulum|integral to plasma membrane|melanosome	protein binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(2)	34	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GGTTATCCACGTAGTAGAGAA	0.463000														44			14		0	0	1	0	0
N4BP1	9683	broad.mit.edu	37	16	48596356	48596356	+	Splice_Site	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:48596356C>A	uc002efp.3	-	2	436	c.199_splice	c.e2-1	p.E67_splice		NM_153029	NP_694574	O75113	N4BP1_HUMAN	Homo sapiens NEDD4 binding protein 1 (N4BP1), mRNA.	67					negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination	PML body|nucleolus				breast(3)|kidney(2)|lung(11)|urinary_tract(1)	17		all_cancers(37;0.179)|all_lung(18;0.11)				TAATATATTCCTGTAAAGAGA	0.338000														15			5		1.23904e-05	1.3743e-05	1	1	0
KRT86	3892	broad.mit.edu	37	12	52699090	52699090	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:52699090G>A	uc010snq.2	+	5	935	c.802G>A	c.(802-804)Gac>Aac	p.D268N	KRT86_uc009zmg.3_Missense_Mutation_p.D268N|KRT81_uc001sac.3_Intron|KRT86_uc001sad.3_Missense_Mutation_p.D268N	NM_002284	NP_002275	O43790	KRT86_HUMAN	Homo sapiens keratin 86 (KRT86), mRNA.	268	Linker 12.|Rod.				cytoskeleton organization	keratin filament	structural molecule activity	p.R267L(1)		breast(1)|cervix(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(357;0.189)		CAACAGCCGGGACCTGAACAT	0.572000														34			23		0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155219800	155219800	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:155219800C>T	uc003inw.2	-	17	4301	c.4301G>A	c.(4300-4302)cGt>cAt	p.R1434H		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.	1434	Cadherin 12.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R1434S(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GTCCAAAGCACGAGTGGTTGA	0.393000														61			5		0	0	1	0	0
DNAJA3	9093	broad.mit.edu	37	16	4498835	4498835	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:4498835G>T	uc002cwk.3	+	8	1304	c.1227G>T	c.(1225-1227)aaG>aaT	p.K409N	DNAJA3_uc002cwl.3_Missense_Mutation_p.K409N|DNAJA3_uc010uxk.2_Missense_Mutation_p.K256N	NM_005147	NP_005138	Q96EY1	DNJA3_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily A, member 3 (DNAJA3), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	409					activation of caspase activity|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of cell proliferation|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of protein kinase activity|neuromuscular junction development|positive regulation of apoptosis|positive regulation of protein ubiquitination|protein folding|protein stabilization|response to heat|response to interferon-gamma	cytosol|mitochondrial matrix|mitochondrial nucleoid|nucleus	ATP binding|NF-kappaB binding|heat shock protein binding|interferon-gamma receptor binding|metal ion binding|protein kinase binding			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|upper_aerodigestive_tract(2)	15						TCCACATCAAGATACGAGTTC	0.592000														12			3		6.4e-05	6.99953e-05	1	1	0
PLIN4	729359	broad.mit.edu	37	19	4510998	4510998	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:4510998C>T	uc002mar.1	-	2	2932	c.2932G>A	c.(2932-2934)Ggt>Agt	p.G978S	PLIN4_uc010dub.1_Missense_Mutation_p.G2S	NM_001080400	NP_001073869	Q96Q06	PLIN4_HUMAN	Homo sapiens perilipin 4 (PLIN4), mRNA.	978	27 X 33 AA approximate tandem repeat.					lipid particle|plasma membrane				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						TCCTTGGTACCCATAAGCACA	0.617000														19			10		0	0	1	0	0
TRIM21	6737	broad.mit.edu	37	11	4411432	4411432	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:4411432C>T	uc001lyy.1	-	1	321	c.208G>A	c.(208-210)Gcc>Acc	p.A70T		NM_003141	NP_003132	P19474	RO52_HUMAN	Homo sapiens tripartite motif containing 21 (TRIM21), mRNA.	70					cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein deubiquitination|positive regulation of cell cycle|protein autoubiquitination|protein destabilization|protein monoubiquitination|protein polyubiquitination|protein trimerization	cytoplasmic mRNA processing body|nucleus	DNA binding|RNA binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)	16		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194)		ACCATGTTGGCTAGCTGTCGA	0.567000														41			34		0	0	1	0	0
TUBB3	10381	broad.mit.edu	37	16	89986192	89986192	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:89986192A>G	uc002fpf.2	+	0	934	c.526A>G	c.(526-528)Agc>Ggc	p.S176G	TUBB3_uc002fpe.4_Missense_Mutation_p.S176G|TUBB3_uc010ciz.1_5'Flank	NM_006086	NP_006077	Q13509	TBB3_HUMAN	Homo sapiens tubulin, beta 3 class III (TUBB3), transcript variant 1, mRNA.	0					'de novo' posttranslational protein folding|axon guidance|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		TGTCGTCTTCAGCACGCTCTT	0.627000														47			9		0	0	1	0	0
TIAM2	26230	broad.mit.edu	37	6	155451107	155451107	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:155451107C>T	uc003qqb.3	+	5	2023	c.750C>T	c.(748-750)taC>taT	p.Y250Y	TIAM2_uc003qqe.3_Silent_p.Y250Y	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN	Homo sapiens T-cell lymphoma invasion and metastasis 2 (TIAM2), transcript variant 1, mRNA.	250					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	Rho guanyl-nucleotide exchange factor activity|receptor signaling protein activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		CATCCTGGTACGACTCCCCTT	0.662000														48			19		0	0	1	0	0
PYCRL	65263	broad.mit.edu	37	8	144689168	144689168	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:144689168G>T	uc003yyy.3	-	2	357	c.327C>A	c.(325-327)atC>atA	p.I109I	PYCRL_uc011lkm.2_Silent_p.I109I|PYCRL_uc011lkn.2_Non-coding_Transcript	NM_023078	NP_075566	Q53H96	P5CR3_HUMAN	Homo sapiens pyrroline-5-carboxylate reductase-like (PYCRL), mRNA.	97					proline biosynthetic process		pyrroline-5-carboxylate reductase activity			central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)	5	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			CGGACACCAAGATGTGTTCAG	0.612000														45			8		0.000274275	0.000294507	1	1	0
AHNAK2	113146	broad.mit.edu	37	14	105409831	105409831	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:105409831G>A	uc010axc.1	-	6	12077	c.11957C>T	c.(11956-11958)tCc>tTc	p.S3986F	AHNAK2_uc021sen.1_5'Flank|AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.S3886F	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	3986						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TGCCTCCATGGACTTGCCTGG	0.602000														160			103		0	0	1	0	0
OR52D1	390066	broad.mit.edu	37	11	5510000	5510000	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:5510000G>T	uc010qzg.2	+	0	86	c.64G>T	c.(64-66)Ggg>Tgg	p.G22W	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001005163	NP_001005163	Q9H346	O52D1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily D, member 1 (OR52D1), mRNA.	22					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P21S(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGGGATCCCAGGGCTGGAGGC	0.488000														91			6		3.59834e-05	3.95114e-05	1	1	0
SSR3	6747	broad.mit.edu	37	3	156266708	156266708	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:156266708C>T	uc011bop.2	-	2	440	c.345G>A	c.(343-345)aaG>aaA	p.K115K	SSR3_uc003fau.3_Silent_p.K115K	NM_007107	NP_009038	Q9UNL2	SSRG_HUMAN	Homo sapiens signal sequence receptor, gamma (translocon-associated protein gamma) (SSR3), mRNA.	115					cotranslational protein targeting to membrane	Sec61 translocon complex|integral to endoplasmic reticulum membrane|microsome	protein binding|signal sequence binding	p.R114W(1)		endometrium(1)|prostate(2)	3			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			CATCTTTCTCCTTCCGAGACA	0.363000														40			4		0	0	1	0	0
CRIM1	51232	broad.mit.edu	37	2	36749446	36749446	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:36749446C>A	uc002rpd.3	+	12	2484	c.2418C>A	c.(2416-2418)ccC>ccA	p.P806P		NM_016441	NP_057525	Q9NZV1	CRIM1_HUMAN	Homo sapiens cysteine rich transmembrane BMP regulator 1 (chordin-like) (CRIM1), mRNA.	806	VWFC 5.				nervous system development|regulation of cell growth	extracellular region|integral to membrane|plasma membrane	insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				AGTGTTGTCCCTACTGCATAG	0.413000														71			8		0.000157383	0.000170012	1	1	0
FAM8A1	51439	broad.mit.edu	37	6	17601185	17601185	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:17601185C>T	uc003ncc.3	+	0	668	c.545C>T	c.(544-546)gCc>gTc	p.A182V		NM_016255	NP_057339	Q9UBU6	FA8A1_HUMAN	Homo sapiens family with sequence similarity 8, member A1 (FAM8A1), mRNA.	182						integral to membrane				endometrium(1)|large_intestine(2)|lung(3)	6	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.143)	all cancers(50;0.176)|Epithelial(50;0.204)			AGCCCCGGGGCCGCGGGGCCT	0.756000														7			8		0	0	1	0	0
SAMD7	344658	broad.mit.edu	37	3	169644693	169644693	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:169644693G>A	uc003fgd.3	+	5	910	c.643G>A	c.(643-645)Gca>Aca	p.A215T	SAMD7_uc003fge.3_Missense_Mutation_p.A215T|SAMD7_uc011bpo.2_Missense_Mutation_p.A116T	NM_182610	NP_872416	Q7Z3H4	SAMD7_HUMAN	Homo sapiens sterile alpha motif domain containing 7 (SAMD7), mRNA.	215										NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			TCAGACTCATGCAGTTCCCTA	0.433000														58			9		0	0	1	0	0
ENGASE	64772	broad.mit.edu	37	17	77082252	77082252	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:77082252A>G	uc002jwv.3	+	13	2061	c.2053A>G	c.(2053-2055)Atg>Gtg	p.M685V	ENGASE_uc002jww.3_Missense_Mutation_p.M390V	NM_001042573	NP_001036038	Q8NFI3	ENASE_HUMAN	Homo sapiens endo-beta-N-acetylglucosaminidase (ENGASE), mRNA.	685						cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity			breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						AGAGATGCCCATGTTCCTGGG	0.617000														35			22		0	0	1	0	0
TOR1AIP2	163590	broad.mit.edu	37	1	179815811	179815811	+	Missense_Mutation	SNP	T	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:179815811T>A	uc001gnl.3	-	6	1622	c.808A>T	c.(808-810)Agt>Tgt	p.S270C	TOR1AIP2_uc001gnk.3_Missense_Mutation_p.S270C	NM_001199260	NP_001186189	Q8NFQ8	TOIP2_HUMAN	Homo sapiens torsin A interacting protein 2 (TOR1AIP2), transcript variant 3, mRNA.	270						endoplasmic reticulum membrane|integral to membrane	protein binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(10)|ovary(1)|skin(2)	18						AGGAAGGAACTCTGGCCTGGA	0.507000														63			40		0	0	1	0	0
SEC24C	9632	broad.mit.edu	37	10	75528876	75528876	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:75528876A>C	uc001juw.3	+	17	2570	c.2390A>C	c.(2389-2391)gAt>gCt	p.D797A	SEC24C_uc009xrj.2_Missense_Mutation_p.D655A|SEC24C_uc001jux.3_Missense_Mutation_p.D797A|SEC24C_uc010qko.2_Missense_Mutation_p.D678A|SEC24C_uc010qkp.2_Missense_Mutation_p.D45A|SEC24C_uc010qkq.2_Missense_Mutation_p.D45A	NM_004922	NP_940999	P53992	SC24C_HUMAN	Homo sapiens SEC24 family, member C (S. cerevisiae) (SEC24C), transcript variant 1, mRNA.	797					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|Golgi membrane|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					AAGCATGACGATCGGCTCAAT	0.542000														22			5		0	0	1	0	0
ADAMTS10	81794	broad.mit.edu	37	19	8666003	8666003	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:8666003A>G	uc002mkj.1	-	5	893	c.619T>C	c.(619-621)Tgg>Cgg	p.W207R	ADAMTS10_uc002mkk.1_5'UTR	NM_030957	NP_112219	Q9H324	ATS10_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 10 (ADAMTS10), mRNA.	207					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						CGCAGCCACCATGGCCGCCCT	0.627000														29			12		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140221960	140221960	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140221960C>T	uc003lhs.2	+	0	1054	c.1054C>T	c.(1054-1056)Ctg>Ttg	p.L352L	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_Silent_p.L352L	NM_018911	NP_061734	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 8 (PCDHA8), transcript variant 1, mRNA.	367	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)			TGAGATAGCACTGACTTCCTT	0.498000														77			7		0	0	1	0	0
ABI2	10152	broad.mit.edu	37	2	204245034	204245034	+	Missense_Mutation	SNP	T	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:204245034T>A	uc002vaa.3	+	2	624	c.389T>A	c.(388-390)cTt>cAt	p.L130H	ABI2_uc010zig.1_Non-coding_Transcript|ABI2_uc010zij.2_Missense_Mutation_p.L74H|ABI2_uc002uzz.3_Missense_Mutation_p.L130H|ABI2_uc010zih.2_Intron|ABI2_uc010zii.2_Missense_Mutation_p.L130H|ABI2_uc002vab.3_Missense_Mutation_p.L85H|ABI2_uc010zik.2_5'UTR|ABI2_uc010zil.2_5'UTR|ABI2_uc010zim.2_5'UTR|ABI2_uc002vac.3_5'Flank	NM_005759	NP_005750	Q9NYB9	ABI2_HUMAN	Homo sapiens abl-interactor 2 (ABI2), mRNA.	130					actin polymerization or depolymerization|cell migration|peptidyl-tyrosine phosphorylation	cytoskeleton|cytosol|filopodium|lamellipodium	DNA binding|SH3 domain binding|cytoskeletal adaptor activity|kinase binding|proline-rich region binding|ubiquitin protein ligase binding			breast(1)|kidney(3)|large_intestine(1)|liver(2)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	15						CCAGCCAACCTTGAACGACCA	0.318000														102			6		0	0	1	0	0
CCP110	9738	broad.mit.edu	37	16	19548728	19548728	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:19548728C>T	uc002dgl.4	+	3	1984	c.1737C>T	c.(1735-1737)aaC>aaT	p.N579N	CCP110_uc002dgk.4_Silent_p.N579N	NM_001199022	NP_001185951	O43303	CP110_HUMAN	Homo sapiens centriolar coiled coil protein 110kDa (CCP110), transcript variant 1, mRNA.	579					G2/M transition of mitotic cell cycle|centriole replication|regulation of cytokinesis	centriole|cytosol	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|stomach(3)|urinary_tract(1)	21						TTTTGGATAACAGTTTTGAGA	0.353000														134			11		0	0	1	0	0
RNF111	54778	broad.mit.edu	37	15	59373204	59373204	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:59373204C>A	uc002afv.3	+	7	2297	c.2018C>A	c.(2017-2019)cCt>cAt	p.P673H	RNF111_uc002afs.3_Missense_Mutation_p.P673H|RNF111_uc002aft.3_Missense_Mutation_p.P673H|RNF111_uc002afu.3_Missense_Mutation_p.P672H|RNF111_uc002afw.3_Missense_Mutation_p.P673H|RNF111_uc002afx.3_Missense_Mutation_p.P199H	NM_017610	NP_060080	Q6ZNA4	RN111_HUMAN	Homo sapiens ring finger protein 111 (RNF111), mRNA.	673	Pro-rich.				multicellular organismal development|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		AACCCCCCTCCTCAGACTCAG	0.448000														126			7		3.09899e-07	3.55757e-07	1	1	0
KDM5C	8242	broad.mit.edu	37	X	53241017	53241017	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:53241017G>A	uc004drz.3	-	8	1727	c.1194C>T	c.(1192-1194)ggC>ggT	p.G398G	KDM5C_uc022bxe.1_Silent_p.G331G|KDM5C_uc004dsa.3_Silent_p.G397G	NM_004187	NP_004178	P41229	KDM5C_HUMAN	Homo sapiens lysine (K)-specific demethylase 5C (KDM5C), transcript variant 1, mRNA.	398					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						CGGCCATCTCGCCAAAGCTCT	0.522000			"""N, F, S"""		clear cell renal carcinoma									10			11		0	0	1	0	0
ATP7A	538	broad.mit.edu	37	X	77254148	77254148	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:77254148G>T	uc004ecx.4	+	4	1670	c.1510G>T	c.(1510-1512)Gca>Tca	p.A504S	ATP7A_uc004ecw.2_Missense_Mutation_p.A504S	NM_000052	NP_000043	Q04656	ATP7A_HUMAN	Homo sapiens ATPase, Cu++ transporting, alpha polypeptide (ATP7A), mRNA.	504	HMA 5.				ATP biosynthetic process|T-helper cell differentiation|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						TTCCTGTGTAGCAAACATTGA	0.408000														84			43		1.3203e-36	1.75107e-36	1	1	0
DOCK2	1794	broad.mit.edu	37	5	169141091	169141091	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:169141091C>T	uc003maf.3	+	17	1799	c.1719C>T	c.(1717-1719)caC>caT	p.H573H	DOCK2_uc011der.2_Non-coding_Transcript|DOCK2_uc010jjm.3_Silent_p.H65H|DOCK2_uc010jjl.1_Silent_p.H91H	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Homo sapiens dedicator of cytokinesis 2 (DOCK2), mRNA.	573	DHR-1.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	GTP binding|GTPase binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding|electron carrier activity|heme binding	p.R572Q(1)		NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTTATCGACACCATGTGGAAA	0.567000														35			12		0	0	1	0	0
ZZZ3	26009	broad.mit.edu	37	1	78046696	78046696	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:78046696G>A	uc001dhq.3	-	8	2443	c.1967C>T	c.(1966-1968)aCt>aTt	p.T656I	ZZZ3_uc001dhr.3_Missense_Mutation_p.T162I|ZZZ3_uc001dhp.3_Missense_Mutation_p.T655I	NM_015534	NP_056349	Q8IYH5	ZZZ3_HUMAN	Homo sapiens zinc finger, ZZ-type containing 3 (ZZZ3), mRNA.	656	HTH myb-type.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						TTCTTCAACAGTCCACAACTG	0.373000														130			45		0	0	1	0	0
USP19	10869	broad.mit.edu	37	3	49153548	49153548	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49153548C>T	uc003cwd.2	-	8	1419	c.1100G>A	c.(1099-1101)cGc>cAc	p.R367H	USP19_uc003cwa.3_Missense_Mutation_p.R173H|USP19_uc003cwb.3_Missense_Mutation_p.R453H|USP19_uc003cvz.4_Missense_Mutation_p.R468H|USP19_uc011bcg.2_Missense_Mutation_p.R458H|USP19_uc003cwc.2_Missense_Mutation_p.R123H|USP19_uc011bch.2_Missense_Mutation_p.R468H|USP19_uc011bci.2_Missense_Mutation_p.R453H	NM_006677	NP_006668	O94966	UBP19_HUMAN	Homo sapiens ubiquitin specific peptidase 19 (USP19), transcript variant 4, mRNA.	367	CS 2.				ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GATGTCGATGCGAGAAGCCGT	0.572000														18			18		0	0	1	0	0
CHAF1A	10036	broad.mit.edu	37	19	4430615	4430615	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:4430615T>C	uc002mal.3	+	10	2024	c.1924T>C	c.(1924-1926)Tct>Cct	p.S642P		NM_005483	NP_005474	Q13111	CAF1A_HUMAN	Homo sapiens chromatin assembly factor 1, subunit A (p150) (CHAF1A), mRNA.	642	Necessary for homodimerization and competence for chromatin assembly.				DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|cell cycle|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGGTACCTGTCTGAGGACGA	0.507000								Chromatin Structure						59			4		0	0	1	0	0
SUGT1P1	441394	broad.mit.edu	37	9	33509198	33509198	+	RNA	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:33509198C>T	uc022bfm.1	-	2		c.577G>A								Homo sapiens suppressor of G2 allele of SKP1 (S. cerevisiae) pseudogene 1 (SUGT1P1), non-coding RNA.																		GCAACAGCAACTATGTAGAAA	0.478000														21			5		0	0	1	0	0
CIRH1A	84916	broad.mit.edu	37	16	69184788	69184788	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:69184788G>A	uc002ews.4	+	7	1079	c.983G>A	c.(982-984)cGa>cAa	p.R328Q	CIRH1A_uc002ewr.2_Missense_Mutation_p.R328Q|CIRH1A_uc002ewt.4_Missense_Mutation_p.R245Q|CIRH1A_uc010cfi.3_Missense_Mutation_p.R245Q|CIRH1A_uc010cfj.1_Missense_Mutation_p.R147Q	NM_032830	NP_116219	Q969X6	CIR1A_HUMAN	Homo sapiens cirrhosis, autosomal recessive 1A (cirhin) (CIRH1A), mRNA.	328						nucleolus	protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(108;0.125)		GCCGCTCTCCGAAAAATCACC	0.537000														69			49		0	0	1	0	0
MEGF10	84466	broad.mit.edu	37	5	126676323	126676323	+	Splice_Site	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:126676323G>A	uc003kuh.4	+	5	681	c.319_splice	c.e5+1	p.P107_splice	MEGF10_uc010jdc.1_Splice_Site_p.P107_splice|MEGF10_uc010jdd.1_Splice_Site_p.P107_splice|MEGF10_uc003kui.4_Splice_Site_p.P107_splice	NM_032446	NP_115822	Q96KG7	MEG10_HUMAN	Homo sapiens multiple EGF-like-domains 10 (MEGF10), mRNA.	107	EGF-like 1.|EMI.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		ATGTGTGTCCGTAAGTAAGAC	0.488000														36			22		0	0	1	0	0
RHOA	387	broad.mit.edu	37	3	49399938	49399938	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49399938C>T	uc003cwu.3	-	3	675	c.399G>A	c.(397-399)aaG>aaA	p.K133K	RHOA_uc010hku.3_Silent_p.K52K	NM_001664	NP_001655	P61586	RHOA_HUMAN	Homo sapiens ras homolog gene family, member A (RHOA), mRNA.	133					Rho protein signal transduction|axon guidance|interspecies interaction between organisms|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB import into nucleus|positive regulation of axonogenesis|positive regulation of neuron differentiation|positive regulation of stress fiber assembly|regulation of cell migration|regulation of small GTPase mediated signal transduction|spindle assembly involved in mitosis	cytoskeleton|cytosol|plasma membrane	GTP binding|GTPase activity|myosin binding			cervix(1)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	Atorvastatin(DB01076)|Simvastatin(DB00641)	CCTGCTTCATCTTGGCTAGCT	0.532000														60			31		0	0	1	0	0
TAF3	83860	broad.mit.edu	37	10	8005992	8005992	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:8005992G>T	uc010qbd.2	+	2	519	c.519G>T	c.(517-519)gaG>gaT	p.E173D		NM_031923	NP_114129	Q5VWG9	TAF3_HUMAN	Homo sapiens TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa (TAF3), mRNA.	173					maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding			NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						TTAATGATGAGAATTTCCTGG	0.493000														49			5		0.184627	0.186034	1	1	0
PCNT	5116	broad.mit.edu	37	21	47851604	47851604	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:47851604G>A	uc002zji.4	+	37	8333	c.8226G>A	c.(8224-8226)gaG>gaA	p.E2742E	PCNT_uc002zjj.3_Silent_p.E2624E	NM_006031	NP_006022	O95613	PCNT_HUMAN	Homo sapiens pericentrin (PCNT), mRNA.	2742					G2/M transition of mitotic cell cycle|cilium assembly	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					AGCTCTCTGAGCTCCAGAAGG	0.642000														19			5		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179581942	179581942	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179581942C>T	uc021vsy.1	-	84	22012	c.21787G>A	c.(21787-21789)Gta>Ata	p.V7263I	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.V3924I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	8190	Ig-like 54.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.G7262D(1)		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)			GTATTTTCTACCAAAGTCATC	0.458000														30			13		0	0	1	0	0
OR2G6	391211	broad.mit.edu	37	1	248685655	248685655	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:248685655G>T	uc001ien.1	+	0	708	c.708G>T	c.(706-708)aaG>aaT	p.K236N		NM_001013355	NP_001013373	Q5TZ20	OR2G6_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 6 (OR2G6), mRNA.	236					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.K236N(2)		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)			GCCGCCAAAAGGCCTTTGGGA	0.458000														83			14		6.31663e-08	7.34157e-08	1	1	0
ADAMTS7	11173	broad.mit.edu	37	15	79059357	79059357	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:79059357T>G	uc002bej.4	-	18	3107	c.2896A>C	c.(2896-2898)Aat>Cat	p.N966H	ADAMTS7_uc010und.1_3'UTR	NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 7 (ADAMTS7), mRNA.	966	TSP type-1 4.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						CAGAGGACATTTCGGCGCTGA	0.667000														32			9		0	0	1	0	0
MPI	4351	broad.mit.edu	37	15	75190063	75190063	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:75190063C>T	uc002azc.1	+	7	1269	c.1264C>T	c.(1264-1266)Ctg>Ttg	p.L422L	MPI_uc002azd.1_3'UTR|MPI_uc010ulx.1_Silent_p.L372L|MPI_uc002aze.1_Silent_p.L361L	NM_002435	NP_002426	P34949	MPI_HUMAN	Homo sapiens mannose phosphate isomerase (MPI), mRNA.	422					GDP-mannose biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	mannose-6-phosphate isomerase activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	9						TGCCTGCTGTCTGCTGTAAAG	0.592000														27			6		0	0	1	0	0
ITSN1	6453	broad.mit.edu	37	21	35186340	35186340	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:35186340G>A	uc002yta.1	+	21	2959	c.2691G>A	c.(2689-2691)acG>acA	p.T897T	DONSON_uc002ysn.1_Intron|ITSN1_uc010gmj.3_Silent_p.T776T|ITSN1_uc002ysy.3_Silent_p.T892T|ITSN1_uc002ysx.3_Silent_p.T855T|ITSN1_uc002yth.4_Non-coding_Transcript|ITSN1_uc002ysz.3_Silent_p.T892T|ITSN1_uc010gmg.3_Silent_p.T855T|ITSN1_uc010gmh.3_Non-coding_Transcript|ITSN1_uc002ysw.3_Silent_p.T897T|ITSN1_uc010gmi.3_Silent_p.T860T|ITSN1_uc002ytb.1_Silent_p.T892T|ITSN1_uc002ytc.1_Silent_p.T892T|ITSN1_uc010gmk.3_Silent_p.T860T|ITSN1_uc010gml.3_Non-coding_Transcript|ITSN1_uc002ytd.3_Non-coding_Transcript|ITSN1_uc002ytj.2_Silent_p.T892T|ITSN1_uc010gmm.1_Non-coding_Transcript|ITSN1_uc002yte.3_Silent_p.T831T|ITSN1_uc021wip.1_Silent_p.T786T|ITSN1_uc002ytf.1_Non-coding_Transcript	NM_003024	NP_003015	Q15811	ITSN1_HUMAN	Homo sapiens intersectin 1 (SH3 domain protein) (ITSN1), transcript variant 1, mRNA.	897					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	Rho guanyl-nucleotide exchange factor activity|calcium ion binding|proline-rich region binding|protein complex scaffold	p.T897M(1)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						CTCCAGCCACGGCCACTGGCT	0.562000														23			17		0	0	1	0	0
SEC16A	9919	broad.mit.edu	37	9	139371902	139371902	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:139371902C>T	uc004chx.3	-	2	475	c.166G>A	c.(166-168)Gct>Act	p.A56T	SEC16A_uc004chv.4_5'Flank|SEC16A_uc004chw.3_Missense_Mutation_p.A56T|SEC16A_uc010nbn.3_Missense_Mutation_p.A56T|SEC16A_uc010nbo.1_Missense_Mutation_p.A56T	NM_014866	NP_055681	O15027	SC16A_HUMAN	Homo sapiens SEC16 homolog A (S. cerevisiae) (SEC16A), mRNA.	2023					protein transport|vesicle-mediated transport	Golgi membrane|endoplasmic reticulum membrane				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		CTACTAAAAGCAAATGGATCC	0.562000														24			16		0	0	1	0	0
GRIP2	80852	broad.mit.edu	37	3	14555201	14555201	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:14555201G>A	uc021wtn.1	-	14	1899	c.1899C>T	c.(1897-1899)gtC>gtT	p.V633V	GRIP2_uc010heh.3_Non-coding_Transcript	NM_001080423	NP_001073892	Q9C0E4	GRIP2_HUMAN	Homo sapiens glutamate receptor interacting protein 2 (GRIP2), mRNA.	537	PDZ 5.				synaptic transmission	cytosol|plasma membrane	protein binding			endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						CCTCCAGCACGACCTTGTGGG	0.622000														12			6		0	0	1	0	0
FRYL	285527	broad.mit.edu	37	4	48563643	48563643	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:48563643G>A	uc003gyh.1	-	32	4312	c.3707C>T	c.(3706-3708)cCg>cTg	p.P1236L	FRYL_uc003gyk.3_Missense_Mutation_p.P1236L|FRYL_uc003gyi.1_Missense_Mutation_p.P125L	NM_015030	NP_055845	O94915	FRYL_HUMAN	Homo sapiens FRY-like (FRYL), mRNA.	1236					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						AAACATCTTCGGTTCCAGAAT	0.338000														37			28		0	0	1	0	0
GSTA4	2941	broad.mit.edu	37	6	52849275	52849275	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:52849275G>A	uc003pbf.3	-	4	551	c.401C>T	c.(400-402)cCt>cTt	p.P134L	GSTA4_uc003pbd.3_Missense_Mutation_p.P41L	NM_001512	NP_001503	O15217	GSTA4_HUMAN	Homo sapiens glutathione S-transferase alpha 4 (GSTA4), mRNA.	134	GST C-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity|protein homodimerization activity			endometrium(1)|lung(3)|skin(2)|urinary_tract(1)	7	Lung NSC(77;0.103)				Glutathione(DB00143)	TTCAAACACAGGAAAGTATCT	0.433000														58			29		0	0	1	0	0
ZBTB16	7704	broad.mit.edu	37	11	114121089	114121089	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:114121089C>T	uc001pop.3	+	6	2098	c.1834C>T	c.(1834-1836)Cgg>Tgg	p.R612W	ZBTB16_uc001poq.3_Missense_Mutation_p.R612W	NM_006006	NP_005997	Q05516	ZBT16_HUMAN	Homo sapiens zinc finger and BTB domain containing 16 (ZBTB16), transcript variant 1, mRNA.	612					apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	PML body|nuclear speck|transcriptional repressor complex	protein homodimerization activity|zinc ion binding			central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		CCAGCGCTCCCGGGACTACTC	0.617000														75			10		0	0	1	0	0
GPHN	10243	broad.mit.edu	37	14	67579789	67579789	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:67579789C>T	uc001xiy.3	+	14	2549	c.1428C>T	c.(1426-1428)caC>caT	p.H476H	GPHN_uc001xix.3_Silent_p.H509H|GPHN_uc010tss.2_Silent_p.H522H|GPHN_uc010tst.2_Silent_p.H445H|GPHN_uc010tsu.2_Silent_p.H399H	NM_001024218	NP_001019389	Q9NQX3	GEPH_HUMAN	Homo sapiens gephyrin (GPHN), transcript variant 2, mRNA.	476	MPT adenylyltransferase.				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cell junction|cytoplasm|cytoskeleton|postsynaptic membrane	ATP binding|metal ion binding|nucleotidyltransferase activity			large_intestine(8)|liver(1)|ovary(2)|stomach(1)	12		all_cancers(7;0.0476)|all_hematologic(31;0.0116)		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)		AAGGAACCCACATGGGCCCCT	0.463000			T	MLL	AL									31			37		0	0	1	0	0
WDFY2	115825	broad.mit.edu	37	13	52293442	52293442	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:52293442G>A	uc001vfp.3	+	4	783	c.443G>A	c.(442-444)cGc>cAc	p.R148H	WDFY2_uc010ads.1_Missense_Mutation_p.R148H|WDFY2_uc010adt.1_Intron	NM_052950	NP_443182	Q96P53	WDFY2_HUMAN	Homo sapiens WD repeat and FYVE domain containing 2 (WDFY2), mRNA.	148							metal ion binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	16		Breast(56;0.000208)|Lung NSC(96;0.000517)|Prostate(109;0.0041)|Hepatocellular(98;0.0652)|Myeloproliferative disorder(33;0.164)|all_neural(104;0.191)		GBM - Glioblastoma multiforme(99;9e-08)		AGTGGGCAGCGCCTGGGAGGT	0.527000														44			19		0	0	1	0	0
DGKK	139189	broad.mit.edu	37	X	50119030	50119030	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:50119030G>T	uc010njr.2	-	24	3430	c.3386C>A	c.(3385-3387)cCc>cAc	p.P1129H		NM_001013742	NP_001013764	Q5KSL6	DGKK_HUMAN	Homo sapiens diacylglycerol kinase, kappa (DGKK), mRNA.	1136					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					TACTTCAATGGGAATACAGGA	0.463000														29			15		7.81268e-19	1.00364e-18	1	1	0
SEL1L3	23231	broad.mit.edu	37	4	25792085	25792085	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:25792085C>T	uc003gru.4	-	11	2220	c.2068G>A	c.(2068-2070)Gca>Aca	p.A690T	SEL1L3_uc003grv.3_Missense_Mutation_p.A97T	NM_015187	NP_056002	Q68CR1	SE1L3_HUMAN	Homo sapiens sel-1 suppressor of lin-12-like 3 (C. elegans) (SEL1L3), mRNA.	690						integral to membrane	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						ACCTGAGCTGCTGCATTGCCT	0.428000														25			23		0	0	1	0	0
WNT3	7473	broad.mit.edu	37	17	44845839	44845839	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:44845839G>A	uc002ikv.2	-	3	1034	c.915C>T	c.(913-915)caC>caT	p.H305H		NM_030753	NP_110380	P56703	WNT3_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 3 (WNT3), mRNA.	305					Spemann organizer formation at the anterior end of the primitive streak|Wnt receptor signaling pathway, calcium modulating pathway|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|cellular response to retinoic acid|dorsal/ventral axis specification|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic pattern specification|head morphogenesis|hemopoietic stem cell proliferation|inner ear morphogenesis|limb bud formation|mammary gland epithelium development|mesoderm formation|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|positive regulation of cell proliferation	early endosome|extracellular space|late endosome|membrane fraction|membrane raft|plasma membrane|proteinaceous extracellular matrix	frizzled binding|frizzled-2 binding|signal transducer activity			endometrium(2)|large_intestine(6)|lung(4)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(9;0.0257)			CATCGATGCCGTGGGAGGTGA	0.587000														115			14		0	0	1	0	0
FLT3	2322	broad.mit.edu	37	13	28608053	28608053	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:28608053G>A	uc001urw.3	-	14	1995	c.1913C>T	c.(1912-1914)tCa>tTa	p.S638L	FLT3_uc010aao.3_Non-coding_Transcript|FLT3_uc010tdn.2_Missense_Mutation_p.S638L	NM_004119	NP_004110	P36888	FLT3_HUMAN	Homo sapiens fms-related tyrosine kinase 3 (FLT3), mRNA.	638	Protein kinase.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	AACCTGGATTGAGACTCCTGT	0.453000			"""Mis, O"""		"""AML, ALL"""									136			59		0	0	1	0	0
FAM22G	441457	broad.mit.edu	37	9	99694208	99694208	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:99694208G>T	uc022bkp.1	+	1	242	c.221G>T	c.(220-222)aGt>aTt	p.S74I	FAM22G_uc004awq.2_Missense_Mutation_p.S74I	NM_001170741	NP_001164212	Q5VZR2	FA22G_HUMAN	Homo sapiens family with sequence similarity 22, member G (FAM22G), transcript variant 2, mRNA.	74										central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(5)|skin(2)|stomach(1)	17		Acute lymphoblastic leukemia(62;0.0527)				CGCGGCCCAAGTGGGGCTGGG	0.652000														15			9		5.68852e-11	6.91301e-11	1	1	0
IGDCC3	9543	broad.mit.edu	37	15	65621802	65621802	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:65621802G>A	uc002aos.2	-	12	2383	c.2131C>T	c.(2131-2133)Cgt>Tgt	p.R711C	IGDCC3_uc002aor.1_5'UTR	NM_004884	NP_004875	Q8IVU1	IGDC3_HUMAN	Homo sapiens immunoglobulin superfamily, DCC subclass, member 3 (IGDCC3), mRNA.	711								p.R711C(2)		breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						ATATCCACACGTTTCTCGTCT	0.652000														90			62		0	0	1	0	0
ZNF613	79898	broad.mit.edu	37	19	52448941	52448941	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:52448941C>A	uc002pxz.2	+	5	2269	c.1805C>A	c.(1804-1806)cCt>cAt	p.P602H	ZNF613_uc002pya.2_Missense_Mutation_p.P566H	NM_001031721	NP_079116	Q6PF04	ZN613_HUMAN	Homo sapiens zinc finger protein 613 (ZNF613), transcript variant 1, mRNA.	602					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)		GTGAGCCAGCCTGTTGCCAGA	0.438000														16			10		7.03913e-09	8.30711e-09	1	1	0
SLC25A46	91137	broad.mit.edu	37	5	110092436	110092436	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:110092436G>A	uc003koz.3	+	6	722	c.655G>A	c.(655-657)Gca>Aca	p.A219T	SLC25A46_uc011cvi.2_Missense_Mutation_p.A128T	NM_138773	NP_620128	Q96AG3	S2546_HUMAN	Homo sapiens solute carrier family 25, member 46 (SLC25A46), mRNA.	219					transport	integral to membrane|mitochondrial inner membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	10		all_cancers(142;0.00203)|all_epithelial(76;4.52e-05)|Prostate(80;0.0115)|Colorectal(57;0.0676)|Ovarian(225;0.156)		OV - Ovarian serous cystadenocarcinoma(64;2.58e-09)|Epithelial(69;7.29e-08)|all cancers(49;9.35e-06)|COAD - Colon adenocarcinoma(37;0.211)		TTTTTATTCAGCAAGTCTGAT	0.264000														44			21		0	0	1	0	0
SEMA4D	10507	broad.mit.edu	37	9	91978850	91978850	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:91978850C>T	uc011ltm.1	-	18	2470	c.1898G>A	c.(1897-1899)cGc>cAc	p.R633H	SEMA4D_uc011ltn.1_Non-coding_Transcript|SEMA4D_uc011lto.1_Non-coding_Transcript|SEMA4D_uc004aql.2_Non-coding_Transcript|SEMA4D_uc004aqm.2_Non-coding_Transcript	NM_001142287	NP_001135759	Q92854	SEM4D_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D (SEMA4D), transcript variant 2, mRNA.	0	Ig-like C2-type.				anti-apoptosis|axon guidance|cell adhesion|immune response	integral to membrane|plasma membrane	receptor activity|receptor binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						CCAGACAAAGCGAATGTCTGC	0.597000														30			19		0	0	1	0	0
SPATA21	374955	broad.mit.edu	37	1	16731549	16731549	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:16731549G>A	uc001ayn.3	-	7	1207	c.724C>T	c.(724-726)Cag>Tag	p.Q242*	SPATA21_uc001ayl.1_Non-coding_Transcript|SPATA21_uc010occ.2_Nonsense_Mutation_p.Q219*	NM_198546	NP_940948	Q7Z572	SPT21_HUMAN	Homo sapiens spermatogenesis associated 21 (SPATA21), mRNA.	242							calcium ion binding			breast(1)|endometrium(2)|lung(8)|ovary(2)|pancreas(3)|stomach(1)|urinary_tract(2)	19		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;4.2e-05)|Kidney(64;0.000183)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.0122)|READ - Rectum adenocarcinoma(331;0.0651)		TTCAGGCTCTGTGCATCCACC	0.552000														44			5		0	0	1	0	0
TTC30B	150737	broad.mit.edu	37	2	178415540	178415540	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:178415540C>A	uc002uln.3	-	0	1985	c.1952G>T	c.(1951-1953)aGg>aTg	p.R651M	TTC30B_uc010zfc.1_Missense_Mutation_p.R423M	NM_152517	NP_689730	Q8N4P2	TT30B_HUMAN	Homo sapiens tetratricopeptide repeat domain 30B (TTC30B), mRNA.	651					cell projection organization	cilium	binding			cervix(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362)			TTTTAACTGCCTAGACTCATA	0.358000														82			29		5.6714e-07	6.48683e-07	1	1	0
SP6	80320	broad.mit.edu	37	17	45924776	45924776	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:45924776C>A	uc002imh.1	-	1	1298	c.1020G>T	c.(1018-1020)aaG>aaT	p.K340N	SP6_uc002img.1_Missense_Mutation_p.K340N|SP6_uc021tzc.1_Missense_Mutation_p.K340N	NM_199262	NP_954871	Q3SY56	SP6_HUMAN	Homo sapiens Sp6 transcription factor (SP6), mRNA.	340					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|lung(5)|prostate(1)|skin(1)	8						CCGCCTCCTCCTTGGCGCCCT	0.706000														11			9		0.00448238	0.0046769	1	1	0
PPYR1	5540	broad.mit.edu	37	10	47086853	47086853	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:47086853C>A	uc001jee.3	+	2	489	c.70C>A	c.(70-72)Ctg>Atg	p.L24M	ANXA8L1_uc001jed.4_Intron|PPYR1_uc009xna.3_Missense_Mutation_p.L24M|PPYR1_uc021ppu.1_Missense_Mutation_p.L24M	NM_005972	NP_005963	P50391	NPY4R_HUMAN	Homo sapiens pancreatic polypeptide receptor 1 (PPYR1), mRNA.	24					blood circulation|digestion|feeding behavior	integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						AAGCAAACCCCTGGGCACCCC	0.507000														90			13		6.72482e-11	8.1643e-11	1	1	0
KDM4A	9682	broad.mit.edu	37	1	44149371	44149371	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:44149371T>C	uc001cjx.3	+	11	1917	c.1751T>C	c.(1750-1752)aTg>aCg	p.M584T	KDM4A_uc010oki.2_Intron	NM_014663	NP_055478	O75164	KDM4A_HUMAN	Homo sapiens lysine (K)-specific demethylase 4A (KDM4A), mRNA.	584					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleolus	histone demethylase activity (H3-K36 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						GATGAATACATGTTTTCCCTA	0.468000														65			5		0	0	1	0	0
DNTTIP1	116092	broad.mit.edu	37	20	44430695	44430695	+	Splice_Site	SNP	G	A	A	rs147664923		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:44430695G>A	uc002xpk.3	+	7	625	c.557_splice	c.e7+1	p.V186_splice		NM_052951	NP_443183	Q9H147	TDIF1_HUMAN	Homo sapiens deoxynucleotidyltransferase, terminal, interacting protein 1 (DNTTIP1), mRNA.	186						nucleus				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)	9		Myeloproliferative disorder(115;0.0122)				CGCCGGCATGGTGTGAGTAGG	0.577000														37			20		0	0	1	0	0
SCAI	286205	broad.mit.edu	37	9	127765751	127765751	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:127765751C>T	uc004bpd.3	-	10	1151	c.1029G>A	c.(1027-1029)atG>atA	p.M343I	SCAI_uc004bpe.3_Missense_Mutation_p.M320I|SCAI_uc010mwu.3_Non-coding_Transcript	NM_173690	NP_775961	Q8N9R8	SCAI_HUMAN	Homo sapiens suppressor of cancer cell invasion (SCAI), transcript variant 1, mRNA.	320					negative regulation of Rho protein signal transduction|negative regulation of cell migration|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|integral to membrane|nucleus	protein binding|transcription corepressor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(5)|stomach(1)|urinary_tract(1)	35						AGATTACCTGCATTCCTGGTT	0.423000														46			4		0	0	1	0	0
HECTD1	25831	broad.mit.edu	37	14	31641315	31641315	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:31641315A>G	uc001wrc.1	-	6	1659	c.1170T>C	c.(1168-1170)aaT>aaC	p.N390N		NM_015382	NP_056197	Q9ULT8	HECD1_HUMAN	Homo sapiens HECT domain containing 1 (HECTD1), mRNA.	390					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		CATCCATAAAATTTACTTCAA	0.299000														25			12		0	0	1	0	0
TCRA	0	broad.mit.edu	37	14	22465958	22465958	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:22465958C>A	uc001wcp.2	+	0	63	c.34C>A	c.(34-36)Cta>Ata	p.L12I	TCRA_uc001wbw.2_Intron|TCRA_uc021rpe.1_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|TCRA_uc021rpj.1_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Intron|TCRA_uc001wco.3_Intron|TCRA_uc010aje.1_Missense_Mutation_p.L12I|TCRA_uc001wcr.1_5'Flank|TCRA_uc001wcs.1_5'Flank|TCRA_uc010ajf.1_5'Flank|TCRA_uc010tmm.2_Intron|TCRA_uc001wcq.3_Missense_Mutation_p.L12I|TCRA_uc010ajd.1_Missense_Mutation_p.L12I					Homo sapiens TRA mRNA for T cell receptor alpha chain, partial cds, allele:TRAV19*01+TRAJ53*01.																		TTTGGTGATTCTATGGCTTCA	0.458000														52			5		0.00116845	0.00123466	1	1	0
SNX19	399979	broad.mit.edu	37	11	130785000	130785000	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:130785000C>T	uc001qgk.4	-	0	1383	c.835G>A	c.(835-837)Gcc>Acc	p.A279T	SNX19_uc010sce.2_Intron|SNX19_uc010scf.2_Intron|SNX19_uc010scg.2_Intron|SNX19_uc001qgl.3_Missense_Mutation_p.A279T|SNX19_uc009zcx.1_Intron	NM_014758	NP_055573	Q92543	SNX19_HUMAN	Homo sapiens sorting nexin 19 (SNX19), mRNA.	279					cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		GGGGCACTGGCTGGGCAGGGT	0.562000														76			61		0	0	1	0	0
CLCNKA	1187	broad.mit.edu	37	1	16353844	16353844	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:16353844C>A	uc001axu.3	+	7	775	c.695C>A	c.(694-696)tCt>tAt	p.S232Y	CLCNKA_uc001axt.3_Non-coding_Transcript|CLCNKA_uc010obw.2_Missense_Mutation_p.S189Y|CLCNKA_uc001axv.3_Missense_Mutation_p.S232Y|CLCNKA_uc010obx.1_5'Flank|CLCNKA_uc010oby.1_5'Flank|CLCNKA_uc021ogl.1_5'Flank	NM_004070	NP_004061	P51800	CLCKA_HUMAN	Homo sapiens chloride channel Ka (CLCNKA), transcript variant 1, mRNA.	232					excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	TCCCACTTCTCTGTCCGGGAT	0.647000														114			31		1.45844e-13	1.81628e-13	1	1	0
NUP210	23225	broad.mit.edu	37	3	13378358	13378358	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:13378358C>T	uc003bxv.1	-	26	3696	c.3613G>A	c.(3613-3615)Gtg>Atg	p.V1205M		NM_024923	NP_079199	Q8TEM1	PO210_HUMAN	Homo sapiens nucleoporin 210kDa (NUP210), mRNA.	1205					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					AGGCCTGGCACGGCATTGCCA	0.617000														48			27		0	0	1	0	0
ABCC12	94160	broad.mit.edu	37	16	48120675	48120675	+	Nonsense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:48120675C>A	uc002efc.1	-	25	4037	c.3691G>T	c.(3691-3693)Gag>Tag	p.E1231*	ABCC12_uc002eey.1_Non-coding_Transcript|ABCC12_uc002eez.1_Intron|ABCC12_uc002efa.1_Intron|ABCC12_uc002efb.1_Non-coding_Transcript|ABCC12_uc002efd.1_Intron	NM_033226	NP_150229	Q96J65	MRP9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 12 (ABCC12), mRNA.	1231	ABC transporter 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				AATGTTCTCTCCAGAACCTGC	0.498000														99			46		1.30916e-28	1.72327e-28	1	1	0
RAB3A	5864	broad.mit.edu	37	19	18313466	18313466	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:18313466C>T	uc002nie.2	-	1	254	c.85G>A	c.(85-87)Ggc>Agc	p.G29S		NM_002866	NP_002857	P20336	RAB3A_HUMAN	Homo sapiens RAB3A, member RAS oncogene family (RAB3A), mRNA.	29					glutamate secretion|protein transport|small GTPase mediated signal transduction	clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|plasma membrane|synaptic vesicle	GTP binding|GTPase activity	p.I28I(1)		NS(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	8						CTGCTGTTGCCGATGATGAGA	0.567000											OREG0025360	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		103			67		0	0	1	0	0
HUS1B	135458	broad.mit.edu	37	6	656869	656869	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:656869G>A	uc003mtg.3	-	0	96	c.76C>T	c.(76-78)Cta>Tta	p.L26L	EXOC2_uc003mtd.3_Intron|EXOC2_uc003mte.3_Intron|EXOC2_uc011dho.2_Intron	NM_148959	NP_683762	Q8NHY5	HUS1B_HUMAN	Homo sapiens HUS1 checkpoint homolog b (S. pombe) (HUS1B), mRNA.	26										endometrium(3)|large_intestine(1)|lung(7)	11	Ovarian(93;0.0733)	Breast(5;0.00139)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.041)|BRCA - Breast invasive adenocarcinoma(62;0.0965)		ACCTTCGCTAGCCTCGCGACG	0.667000														20			13		0	0	1	0	0
LY6E	4061	broad.mit.edu	37	8	144102376	144102376	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:144102376T>G	uc003yxn.2	+	1	174	c.20T>G	c.(19-21)gTg>gGg	p.V7G	LOC100133669_uc011ljz.1_5'Flank|LOC100133669_uc003yxl.4_5'Flank|LY6E_uc003yxm.2_Missense_Mutation_p.V7G|LY6E_uc003yxo.2_Non-coding_Transcript	NM_001127213	NP_002337	Q16553	LY6E_HUMAN	Homo sapiens lymphocyte antigen 6 complex, locus E (LY6E), transcript variant 2, mRNA.	7					cell surface receptor linked signaling pathway	anchored to membrane|integral to plasma membrane				endometrium(1)|kidney(3)|large_intestine(2)|lung(1)	7	all_cancers(97;1.94e-10)|all_epithelial(106;1.22e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					TTCTTGCCAGTGCTGCTGGCT	0.612000														30			19		0	0	1	0	0
CTNND2	1501	broad.mit.edu	37	5	11364911	11364911	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:11364911G>T	uc003jfa.1	-	7	1414	c.1269C>A	c.(1267-1269)atC>atA	p.I423I	CTNND2_uc010itt.2_Silent_p.I332I|CTNND2_uc011cmy.1_Silent_p.I86I|CTNND2_uc011cmz.1_5'UTR|CTNND2_uc010itu.1_Non-coding_Transcript|CTNND2_uc011cmx.1_5'UTR	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	Homo sapiens catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) (CTNND2), mRNA.	423					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	p.P422P(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GGTCTTCATAGATGGGATCTA	0.612000														43			7		8.12818e-05	8.84769e-05	1	1	0
CELF2	10659	broad.mit.edu	37	10	11363273	11363273	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:11363273C>T	uc001ikk.2	+	11	1414	c.1254C>T	c.(1252-1254)taC>taT	p.Y418Y	CELF2_uc010qbj.1_Silent_p.Y399Y|CELF2_uc001iki.4_Silent_p.Y393Y|CELF2_uc001ikl.4_Silent_p.Y406Y|CELF2_uc010qbl.1_Silent_p.Y369Y|CELF2_uc010qbm.1_Silent_p.Y165Y|CELF2_uc001iko.4_Silent_p.Y373Y|CELF2_uc001ikp.4_Silent_p.Y375Y|CELF2_uc010qbo.1_Silent_p.Y288Y|CELF2_uc010qbp.1_Silent_p.Y165Y	NM_001083591	NP_001077060	O95319	CELF2_HUMAN	Homo sapiens CUGBP, Elav-like family member 2 (CELF2), transcript variant 4, mRNA.	393	Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.				mRNA processing|regulation of heart contraction	cytoplasm|nucleus	RNA binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	16						TTCAACAGTACGCAGCCGCCG	0.652000														39			5		0	0	1	0	0
ZNF709	163051	broad.mit.edu	37	19	12638021	12638021	+	Missense_Mutation	SNP	T	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:12638021T>A	uc002mty.3	-	3	1111	c.901A>T	c.(901-903)Att>Ttt	p.I301F	ZNF709_uc002mtx.4_Intron	NM_144976	NP_659413	Q8N972	ZN709_HUMAN	Homo sapiens zinc finger protein 564 (ZNF564), mRNA.	356					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(3)|upper_aerodigestive_tract(3)	6						GTGTGCCTAATCATATGACTT	0.383000														39			16		0	0	1	0	0
NELL2	4753	broad.mit.edu	37	12	45108472	45108472	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:45108472G>T	uc010skz.1	-	10	1322	c.1197C>A	c.(1195-1197)gtC>gtA	p.V399V	NELL2_uc001rof.3_Silent_p.V348V|NELL2_uc001rog.2_Silent_p.V349V|NELL2_uc001roh.2_Silent_p.V349V|NELL2_uc009zkd.2_Silent_p.V348V|NELL2_uc010sla.1_Silent_p.V372V|NELL2_uc001roi.1_Silent_p.V349V|NELL2_uc010slb.1_Silent_p.V348V|NELL2_uc001roj.2_Silent_p.V349V	NM_001145107	NP_006150	Q99435	NELL2_HUMAN	Homo sapiens NEL-like 2 (chicken) (NELL2), transcript variant 1, mRNA.	349	EGF-like 1.				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		AAGAGGAATAGACTGTATTTC	0.313000														49			21		3.28513e-13	4.08142e-13	1	1	0
GAA	2548	broad.mit.edu	37	17	78085806	78085806	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:78085806C>T	uc002jxp.3	+	11	2028	c.1661C>T	c.(1660-1662)gCg>gTg	p.A554V	GAA_uc002jxo.3_Missense_Mutation_p.A554V|GAA_uc002jxq.3_Missense_Mutation_p.A554V	NM_000152	NP_001073272	P10253	LYAG_HUMAN	Homo sapiens glucosidase, alpha; acid (GAA), transcript variant 1, mRNA.	554					cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)	ACCCTCCAGGCGGCCACCATC	0.667000														20			10		0	0	1	0	0
ATP13A3	79572	broad.mit.edu	37	3	194154501	194154501	+	Splice_Site	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:194154501C>A	uc003fty.4	-	20	2647	c.2245_splice	c.e20+1	p.G749_splice	ATP13A3_uc003ftz.1_Splice_Site_p.G455_splice	NM_024524	NP_078800	Q9H7F0	AT133_HUMAN	Homo sapiens ATPase type 13A3 (ATP13A3), mRNA.	749					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		AAAGTCTAACCTGTGACCATG	0.333000														86			6		2.0095e-06	2.27092e-06	1	1	0
MAP1A	4130	broad.mit.edu	37	15	43819268	43819268	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:43819268C>A	uc001zrt.3	+	3	6064	c.5597C>A	c.(5596-5598)cCt>cAt	p.P1866H		NM_002373	NP_002364	P78559	MAP1A_HUMAN	Homo sapiens microtubule-associated protein 1A (MAP1A), mRNA.	1866						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	CCCCCCACACCTGCCCCGGAA	0.652000														12			8		0.27861	0.27975	1	1	0
WWC1	23286	broad.mit.edu	37	5	167891939	167891939	+	Missense_Mutation	SNP	G	A	A	rs145892564		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:167891939G>A	uc003lzu.3	+	20	3215	c.3122G>A	c.(3121-3123)cGc>cAc	p.R1041H	WWC1_uc003lzv.3_Missense_Mutation_p.R1047H|WWC1_uc011den.2_Missense_Mutation_p.R1047H|WWC1_uc003lzw.3_Missense_Mutation_p.R840H|WWC1_uc010jjf.1_Missense_Mutation_p.R313H	NM_015238	NP_056053	Q8IX03	KIBRA_HUMAN	Homo sapiens WW and C2 domain containing 1 (WWC1), transcript variant 3, mRNA.	1041	Interaction with histone H3.				cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		GAGCGTTTCCGCCTGCTGCTG	0.647000														23			16		0	0	1	0	0
CACNA1D	776	broad.mit.edu	37	3	53839116	53839116	+	Missense_Mutation	SNP	G	A	A	rs142184099	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:53839116G>A	uc003dgv.4	+	44	5855	c.5692G>A	c.(5692-5694)Gtt>Att	p.V1898I	CACNA1D_uc003dgu.4_Missense_Mutation_p.V1918I|CACNA1D_uc003dgy.4_Missense_Mutation_p.V1874I|CACNA1D_uc003dgw.4_Missense_Mutation_p.V1565I|CACNA1D_uc011bes.2_Non-coding_Transcript	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1D subunit (CACNA1D), transcript variant 2, mRNA.	1898					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	TGACTCGCCCGTTTGCTATGA	0.547000														50			35		0	0	1	0	0
PGBD1	84547	broad.mit.edu	37	6	28269043	28269043	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:28269043G>T	uc003nky.3	+	6	1832	c.1412G>T	c.(1411-1413)aGg>aTg	p.R471M	PGBD1_uc003nkz.3_Missense_Mutation_p.R471M	NM_032507	NP_115896	Q96JS3	PGBD1_HUMAN	Homo sapiens piggyBac transposable element derived 1 (PGBD1), transcript variant 2, mRNA.	471					viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						GGATTTATGAGGCATCCTAGA	0.398000														143			12		4.3838e-07	5.01911e-07	1	1	0
GABRG1	2565	broad.mit.edu	37	4	46043152	46043152	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:46043152A>G	uc003gxb.3	-	8	1403	c.1251T>C	c.(1249-1251)tgT>tgC	p.C417C		NM_173536	NP_775807	Q8N1C3	GBRG1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 1 (GABRG1), mRNA.	417					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		CTTCAAAGCAACAGAAGAAGC	0.418000														81			8		0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34052140	34052140	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:34052140A>G	uc001bxm.1	-	45	7192	c.7015T>C	c.(7015-7017)Tac>Cac	p.Y2339H	CSMD2_uc001bxn.1_Missense_Mutation_p.Y2341H	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	2341	Sushi 13.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				AACTGCAGGTAGGTTCCAAGT	0.478000														33			24		0	0	1	0	0
ZNF583	147949	broad.mit.edu	37	19	56925731	56925731	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:56925731C>A	uc010ygl.1	+	3	319	c.154C>A	c.(154-156)Cca>Aca	p.P52T	ZNF583_uc002qnc.2_Missense_Mutation_p.P52T|ZNF583_uc010ygm.1_Missense_Mutation_p.P52T	NM_001159860	NP_689691	Q96ND8	ZN583_HUMAN	Homo sapiens zinc finger protein 583 (ZNF583), transcript variant 2, mRNA.	52	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0564)		TGTTTCTAAGCCAGATGTGAT	0.433000														72			26		1.06801e-11	1.3078e-11	1	1	0
PAM	5066	broad.mit.edu	37	5	102296885	102296885	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:102296885C>T	uc003knt.3	+	12	1487	c.1114C>T	c.(1114-1116)Cct>Tct	p.P372S	PAM_uc003knw.3_Missense_Mutation_p.P372S|PAM_uc003kns.3_Missense_Mutation_p.P372S|PAM_uc003knu.3_Missense_Mutation_p.P372S|PAM_uc011cuz.2_Missense_Mutation_p.P275S|PAM_uc003knv.3_Missense_Mutation_p.P372S|PAM_uc003knx.1_Missense_Mutation_p.P64S	NM_000919	NP_000910	P19021	AMD_HUMAN	Homo sapiens peptidylglycine alpha-amidating monooxygenase (PAM), transcript variant 1, mRNA.	372	Peptidylglycine alpha-hydroxylating monooxygenase (By similarity).				peptide metabolic process|protein modification process	extracellular region|integral to membrane|stored secretory granule	L-ascorbic acid binding|peptidylamidoglycolate lyase activity|peptidylglycine monooxygenase activity|protein binding			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	25		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	Vitamin C(DB00126)	AGATAAGATTCCTTTACTACA	0.313000														43			13		0	0	1	0	0
MAGED1	9500	broad.mit.edu	37	X	51640976	51640976	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:51640976T>C	uc004dpn.3	+	7	2010	c.1820T>C	c.(1819-1821)cTg>cCg	p.L607P	MAGED1_uc004dpm.3_Missense_Mutation_p.L551P|MAGED1_uc004dpo.3_Missense_Mutation_p.L551P	NM_001005333	NP_001005333	Q9Y5V3	MAGD1_HUMAN	Homo sapiens melanoma antigen family D, 1 (MAGED1), transcript variant 1, mRNA.	551	MAGE.				apoptosis|induction of apoptosis by extracellular signals|negative regulation of epithelial cell proliferation|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|plasma membrane|protein complex	protein binding			breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32	Ovarian(276;0.236)					GCTGGCATACTGGGAACGTAA	0.463000										Multiple Myeloma(10;0.10)				11			8		0	0	1	0	0
PCDHB7	56129	broad.mit.edu	37	5	140553826	140553826	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140553826C>T	uc003lit.3	+	0	1584	c.1410C>T	c.(1408-1410)atC>atT	p.I470I		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	Homo sapiens protocadherin beta 7 (PCDHB7), mRNA.	470	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.P469S(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCTGCCCATCGGCAGTGTCA	0.642000														55			25		0	0	1	0	0
SSTR4	6754	broad.mit.edu	37	20	23016403	23016403	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:23016403C>A	uc002wsr.2	+	0	347	c.283C>A	c.(283-285)Ctc>Atc	p.L95I		NM_001052	NP_001043	P31391	SSR4_HUMAN	Homo sapiens somatostatin receptor 4 (SSTR4), mRNA.	95					G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					AGCCGACGAGCTCTTCATGCT	0.657000														104			8		0.00307968	0.00322291	1	1	0
STAC	6769	broad.mit.edu	37	3	36570431	36570431	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:36570431T>G	uc003cgh.1	+	9	1103	c.1064T>G	c.(1063-1065)tTc>tGc	p.F355C	STAC_uc011aya.1_Missense_Mutation_p.F294C	NM_003149	NP_003140	Q99469	STAC_HUMAN	Homo sapiens SH3 and cysteine rich domain (STAC), mRNA.	355					intracellular signal transduction	cytoplasm|soluble fraction	metal ion binding			endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5)	32						GTTAGAACCTTCATTGGGTGT	0.393000														32			23		0	0	1	0	0
KBTBD5	131377	broad.mit.edu	37	3	42727515	42727515	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:42727515C>T	uc003clv.1	+	0	505	c.405C>T	c.(403-405)gcC>gcT	p.A135A		NM_152393	NP_689606	Q2TBA0	KBTB5_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 5 (KBTBD5), mRNA.	135	BACK.									breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28				KIRC - Kidney renal clear cell carcinoma(284;0.214)		ACTGCTTGGCCGTCTTCCGTC	0.642000														55			41		0	0	1	0	0
FLNC	2318	broad.mit.edu	37	7	128470777	128470777	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:128470777C>T	uc003vnz.4	+	0	295	c.86C>T	c.(85-87)gCg>gTg	p.A29V	FLNC_uc003voa.4_Missense_Mutation_p.A29V	NM_001458	NP_001449	Q14315	FLNC_HUMAN	Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.	29	Actin-binding.				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						AAGGACCTGGCGGAGGACGCG	0.647000														33			5		0	0	1	0	0
CHCHD5	84269	broad.mit.edu	37	2	113343902	113343902	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:113343902C>T	uc002tia.2	+	2	458	c.269C>T	c.(268-270)gCt>gTt	p.A90V	CHCHD5_uc002thz.1_Missense_Mutation_p.A90V			Q9BSY4	CHCH5_HUMAN	Homo sapiens coiled-coil-helix-coiled-coil-helix domain containing 5 (CHCHD5), mRNA.	90	CHCH.									NS(1)|endometrium(1)|large_intestine(4)|urinary_tract(1)	7						CTGCAGTGCGCTGAGCAGGTG	0.577000														26			12		0	0	1	0	0
CYFIP2	26999	broad.mit.edu	37	5	156746812	156746812	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:156746812A>G	uc021ygm.1	+	13	1534	c.1396A>G	c.(1396-1398)Atg>Gtg	p.M466V	CYFIP2_uc011ddn.2_Missense_Mutation_p.M441V|CYFIP2_uc011ddo.2_Missense_Mutation_p.M271V|CYFIP2_uc021ygn.1_Missense_Mutation_p.M466V|CYFIP2_uc021ygo.1_Missense_Mutation_p.M466V|CYFIP2_uc003lwt.3_Missense_Mutation_p.M345V|CYFIP2_uc011ddp.2_Missense_Mutation_p.M201V	NM_001037333	NP_001032410	Q96F07	CYFP2_HUMAN	Homo sapiens cytoplasmic FMR1 interacting protein 2 (CYFIP2), transcript variant 1, mRNA.	467					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding			breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CATGGGCAGGATGGAGAGCGT	0.607000														58			4		0	0	1	0	0
PACRGL	133015	broad.mit.edu	37	4	20711343	20711343	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:20711343G>A	uc010iei.1	+	6	703	c.457G>A	c.(457-459)Gaa>Aaa	p.E153K	PACRGL_uc003gpu.3_Non-coding_Transcript|PACRGL_uc003gpz.3_Missense_Mutation_p.E105K|PACRGL_uc011bxm.2_Intron|PACRGL_uc003gqa.3_Intron|PACRGL_uc010iek.3_Missense_Mutation_p.E105K|PACRGL_uc010iej.1_Non-coding_Transcript|PACRGL_uc011bxn.2_Intron	NM_145048	NP_659485	Q8N7B6	PACRL_HUMAN	Homo sapiens PARK2 co-regulated-like (PACRGL), transcript variant 1, mRNA.	105							binding			endometrium(2)|lung(7)|prostate(1)	10						ATTACAGTGGGAATGTCCTCC	0.289000														58			30		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140308746	140308746	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140308746C>T	uc003lih.2	+	0	2445	c.2269C>T	c.(2269-2271)Cgg>Tgg	p.R757W	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lif.2_Intron|PCDHAC2_uc003lie.1_Intron|PCDHAC2_uc003lig.1_Missense_Mutation_p.R757W	NM_018898	NP_061721	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha subfamily C, 1 (PCDHAC1), transcript variant 1, mRNA.	794					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)			TTATCTCTATCGGGCCTCTCT	0.473000														57			34		0	0	1	0	0
PRELID2	153768	broad.mit.edu	37	5	145176105	145176105	+	Missense_Mutation	SNP	T	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:145176105T>A	uc003lnp.1	-	5	495	c.410A>T	c.(409-411)gAg>gTg	p.E137V	PRELID2_uc003lno.1_Missense_Mutation_p.E96V|PRELID2_uc003lnq.1_Missense_Mutation_p.E125V|PRELID2_uc003lnr.1_Missense_Mutation_p.E125V	NM_182960	NP_892005	Q8N945	PRLD2_HUMAN	Homo sapiens PRELI domain containing 2 (PRELID2), transcript variant 1, mRNA.	137	PRELI/MSF1.									endometrium(2)|large_intestine(1)|lung(2)|prostate(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTGAATGAACTCTGTCCTGCA	0.383000														76			11		0	0	1	0	0
ARHGAP12	94134	broad.mit.edu	37	10	32197261	32197261	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:32197261G>A	uc001ivz.1	-	2	793	c.523C>T	c.(523-525)Cgc>Tgc	p.R175C	ARHGAP12_uc001ivy.1_Missense_Mutation_p.R173C|ARHGAP12_uc009xls.2_Missense_Mutation_p.R173C|ARHGAP12_uc001iwb.1_Missense_Mutation_p.R173C|ARHGAP12_uc001iwc.1_Missense_Mutation_p.R173C|ARHGAP12_uc009xlq.1_Missense_Mutation_p.R173C|ARHGAP12_uc009xlr.1_Missense_Mutation_p.R173C	NM_018287	NP_060757	Q8IWW6	RHG12_HUMAN	Homo sapiens Rho GTPase activating protein 12 (ARHGAP12), mRNA.	175					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.R175C(2)		NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2)	31		Prostate(175;0.0199)				CCAAATGAGCGTGTCCTATTC	0.453000														57			37		0	0	1	0	0
STK31	56164	broad.mit.edu	37	7	23768859	23768859	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:23768859G>T	uc003sws.4	+	5	541	c.474G>T	c.(472-474)caG>caT	p.Q158H	STK31_uc003swt.4_Missense_Mutation_p.Q135H|STK31_uc011jze.2_Missense_Mutation_p.Q158H|STK31_uc010kuq.3_Missense_Mutation_p.Q135H	NM_031414	NP_116562	Q9BXU1	STK31_HUMAN	Homo sapiens serine/threonine kinase 31 (STK31), transcript variant 1, mRNA.	158							ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						AAGTTACCCAGTTTGATCAGG	0.318000														68			5		5.9392e-07	6.7814e-07	1	1	0
AZI1	22994	broad.mit.edu	37	17	79170554	79170554	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:79170554G>A	uc002jzp.1	-	14	2055	c.1855C>T	c.(1855-1857)Cag>Tag	p.Q619*	AZI1_uc002jzm.1_Nonsense_Mutation_p.Q46*|AZI1_uc002jzn.1_Nonsense_Mutation_p.Q616*|AZI1_uc002jzo.1_Nonsense_Mutation_p.Q616*|AZI1_uc010wum.1_Nonsense_Mutation_p.Q619*|AZI1_uc002jzq.3_5'Flank	NM_014984	NP_055799	Q9UPN4	AZI1_HUMAN	Homo sapiens 5-azacytidine induced 1 (AZI1), transcript variant 1, mRNA.	619					G2/M transition of mitotic cell cycle|cell differentiation|multicellular organismal development|spermatogenesis	centrosome|cytosol|intracellular membrane-bounded organelle				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			TGCTCCCTCTGCCGCTGCAGC	0.701000														4			3		0	0	1	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121651950	121651950	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:121651950G>A	uc003vjy.3	+	11	3245	c.2850G>A	c.(2848-2850)gtG>gtA	p.V950V	PTPRZ1_uc011knt.2_Intron|PTPRZ1_uc003vjz.3_Intron	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor-type, Z polypeptide 1 (PTPRZ1), transcript variant 1, mRNA.	950					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						CAATACCTGTGCATGATTCTG	0.443000														99			33		0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197325986	197325986	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:197325986C>T	uc001gtz.3	+	4	1223	c.1014C>T	c.(1012-1014)atC>atT	p.I338I	CRB1_uc010poz.2_Silent_p.I269I|CRB1_uc001gty.2_Silent_p.I338I|CRB1_uc009wza.3_Silent_p.I226I|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Silent_p.I338I|CRB1_uc010ppc.1_Non-coding_Transcript	NM_201253	NP_957705	P82279	CRUM1_HUMAN	Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA.	338					cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						AGTGTGAGATCGACCTCAATG	0.458000														35			5		0	0	1	0	0
ZNF124	7678	broad.mit.edu	37	1	247320254	247320254	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:247320254G>A	uc001ick.3	-	3	809	c.670C>T	c.(670-672)Cat>Tat	p.H224Y	ZNF124_uc001ici.3_Intron|ZNF124_uc001icj.1_Missense_Mutation_p.H162Y	NM_003431	NP_003422	Q15973	ZN124_HUMAN	Homo sapiens zinc finger protein 124 (ZNF124), transcript variant 1, mRNA.	224					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			biliary_tract(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(2)	14	all_cancers(71;5.07e-05)|all_epithelial(71;8.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0488)|Lung NSC(105;0.053)		OV - Ovarian serous cystadenocarcinoma(106;0.00739)			GTTCTTTCATGGTAATGAAGG	0.443000														100			6		0	0	1	0	0
PHF12	57649	broad.mit.edu	37	17	27251052	27251052	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:27251052G>A	uc002hdg.1	-	3	1120	c.590C>T	c.(589-591)gCg>gTg	p.A197V	PHF12_uc010wbb.1_Missense_Mutation_p.A179V|PHF12_uc002hdi.1_Missense_Mutation_p.A193V|PHF12_uc002hdj.1_Missense_Mutation_p.A197V|PHF12_uc010crw.1_Intron|BC033997_uc002hdl.3_5'Flank|PHF12_uc002hdh.1_5'UTR	NM_001033561	NP_001028733	Q96QT6	PHF12_HUMAN	Homo sapiens PHD finger protein 12 (PHF12), transcript variant 1, mRNA.	197	Interaction with SIN3A.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			GTCTGGCTCCGCTGCTACTGG	0.582000														14			16		0	0	1	0	0
DGKH	160851	broad.mit.edu	37	13	42773749	42773749	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:42773749G>A	uc001uyl.2	+	18	2400	c.2333G>A	c.(2332-2334)gGa>gAa	p.G778E	DGKH_uc010tfh.2_Missense_Mutation_p.G778E|DGKH_uc001uym.2_Missense_Mutation_p.G778E|DGKH_uc001uyn.2_Non-coding_Transcript|DGKH_uc010tfi.2_Missense_Mutation_p.G533E|DGKH_uc001uyo.2_Missense_Mutation_p.G642E|DGKH_uc010tfj.2_Missense_Mutation_p.G642E|DGKH_uc001uyp.3_Non-coding_Transcript	NM_178009	NP_821077	Q86XP1	DGKH_HUMAN	Homo sapiens diacylglycerol kinase, eta (DGKH), transcript variant 2, mRNA.	778					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization	endosome|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		TTTGGGATTGGATTAGATGCA	0.284000														15			7		0	0	1	0	0
CLIP3	25999	broad.mit.edu	37	19	36509857	36509857	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:36509857G>A	uc010eeq.2	-	7	1440	c.1126C>T	c.(1126-1128)Cgg>Tgg	p.R376W	BC071809_uc002ocy.3_Intron|CLIP3_uc002ocz.2_Missense_Mutation_p.R376W	NM_001199570	NP_001186499	Q96DZ5	CLIP3_HUMAN	Homo sapiens CAP-GLY domain containing linker protein 3 (CLIP3), transcript variant 1, mRNA.	376					chaperone-mediated protein transport|fat cell differentiation|membrane biogenesis|negative regulation of microtubule polymerization|peptidyl-L-cysteine S-palmitoylation|positive regulation of apoptosis|positive regulation of endocytosis|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose transport|positive regulation of protein phosphorylation	Golgi stack|early endosome membrane|membrane raft|microsome|plasma membrane|recycling endosome membrane|trans-Golgi network membrane	ganglioside binding|microtubule binding			cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	23	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CGGGGGGTCCGGGGTGTGGAG	0.617000														40			30		0	0	1	0	0
RIOK2	55781	broad.mit.edu	37	5	96514768	96514768	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:96514768G>T	uc003kmz.3	-	1	306	c.196C>A	c.(196-198)Cgt>Agt	p.R66S	RIOK2_uc003kna.3_Missense_Mutation_p.R66S	NM_018343	NP_060813	Q9BVS4	RIOK2_HUMAN	Homo sapiens RIO kinase 2 (yeast) (RIOK2), transcript variant 1, mRNA.	66							ATP binding|protein serine/threonine kinase activity	p.R66R(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|urinary_tract(2)	23		all_cancers(142;0.000125)|all_epithelial(76;8.48e-07)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0676)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0657)		CTTTTGGTACGCTCCCAAGCT	0.393000														33			9		1.76689e-08	2.07166e-08	1	1	0
MDC1	9656	broad.mit.edu	37	6	30679881	30679881	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:30679881G>A	uc003nrg.4	-	4	2278	c.1838C>T	c.(1837-1839)gCt>gTt	p.A613V	MDC1_uc003nrf.4_Missense_Mutation_p.A267V|MDC1_uc011dmp.1_Missense_Mutation_p.A485V|MDC1_uc003nrh.1_Missense_Mutation_p.A485V|MDC1_uc003nri.2_Missense_Mutation_p.A613V	NM_014641	NP_055456	Q14676	MDC1_HUMAN	Homo sapiens mediator of DNA-damage checkpoint 1 (MDC1), mRNA.	613					cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						CTTAAGAACAGCTGCAGCCCA	0.582000								Other conserved DNA damage response genes						29			6		0	0	1	0	0
C12orf12	196477	broad.mit.edu	37	12	91347739	91347739	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:91347739A>G	uc001tbj.3	-	0	1215	c.781T>C	c.(781-783)Ttc>Ctc	p.F261L		NM_152638	NP_689851	Q8TC90	CL012_HUMAN	Homo sapiens chromosome 12 open reading frame 12 (C12orf12), mRNA.	261										NS(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	27						TTGGGACTGAATGCTAGAGAG	0.552000														384			56		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140794055	140794055	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140794055C>T	uc003lkl.2	+	0	1313	c.1313C>T	c.(1312-1314)aCg>aTg	p.T438M	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc011day.2_Missense_Mutation_p.T438M	NM_018913	NP_061736	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 10 (PCDHGA10), transcript variant 1, mRNA.	436	Cadherin 4.				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)			CCTCTATCAACGGAAGCTCAC	0.463000														111			70		0	0	1	0	0
TUB	7275	broad.mit.edu	37	11	8117155	8117155	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:8117155G>A	uc001mga.3	+	4	657	c.508G>A	c.(508-510)Gct>Act	p.A170T	TUB_uc010rbk.2_Missense_Mutation_p.A176T|TUB_uc001mfy.3_Missense_Mutation_p.A225T	NM_177972	NP_813977	P50607	TUB_HUMAN	Homo sapiens tubby homolog (mouse) (TUB), transcript variant 2, mRNA.	170					phagocytosis|positive regulation of phagocytosis|response to stimulus	cytoplasm|extracellular region|nucleus|plasma membrane				breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)		GGAGACGGCAGCTGGTGGGGG	0.652000														5			8		0	0	1	0	0
NIPA2	81614	broad.mit.edu	37	15	23006491	23006491	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:23006491C>T	uc001yvb.3	-	9	1670	c.813G>A	c.(811-813)tgG>tgA	p.W271*	NIPA2_uc001yux.3_Nonsense_Mutation_p.W271*|NIPA2_uc001yuy.3_Nonsense_Mutation_p.W271*|NIPA2_uc001yuz.3_Nonsense_Mutation_p.W271*|NIPA2_uc010ayb.3_Nonsense_Mutation_p.W252*|NIPA2_uc001yva.3_Nonsense_Mutation_p.W252*	NM_001184889	NP_112184	Q8N8Q9	NIPA2_HUMAN	Homo sapiens non imprinted in Prader-Willi/Angelman syndrome 2 (NIPA2), transcript variant 5, mRNA.	271						early endosome|integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(4)|skin(1)	15		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;1.48e-06)|Epithelial(43;1.44e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000353)		GCATATCTTGCCACTCCTTAA	0.373000														69			39		0	0	1	0	0
CEP135	9662	broad.mit.edu	37	4	56877605	56877605	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:56877605G>T	uc003hbi.3	+	19	2767	c.2533G>T	c.(2533-2535)Gtg>Ttg	p.V845L	CEP135_uc003hbj.3_Missense_Mutation_p.V551L	NM_025009	NP_079285	Q66GS9	CP135_HUMAN	Homo sapiens centrosomal protein 135kDa (CEP135), mRNA.	845					G2/M transition of mitotic cell cycle|centriole replication|centriole-centriole cohesion	centriole|cytosol	protein C-terminus binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					GGAAGCAGCAGTGCAAGAAAA	0.308000														33			13		0.0202918	0.0208584	1	1	0
PFDN6	10471	broad.mit.edu	37	6	33257675	33257675	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:33257675G>T	uc003odt.1	+	1	157	c.42G>T	c.(40-42)gaG>gaT	p.E14D	WDR46_uc011dra.2_5'Flank|WDR46_uc003ods.3_5'Flank|WDR46_uc010juo.1_5'Flank|PFDN6_uc010jup.1_Missense_Mutation_p.E14D|PFDN6_uc021ywk.1_Missense_Mutation_p.E14D	NM_014260	NP_055075	O15212	PFD6_HUMAN	Homo sapiens prefoldin subunit 6 (PFDN6), transcript variant 2, mRNA.	14					'de novo' posttranslational protein folding|chaperone-mediated protein complex assembly	prefoldin complex	chaperone binding|unfolded protein binding			kidney(1)|large_intestine(1)	2						GAGAAGTGGAGAAATATCAAC	0.537000														30			22		3.7963e-18	4.85618e-18	1	1	0
ZNF324	25799	broad.mit.edu	37	19	58982620	58982620	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58982620A>G	uc002qsw.2	+	3	906	c.761A>G	c.(760-762)gAg>gGg	p.E254G		NM_014347	NP_055162	O75467	Z324A_HUMAN	Homo sapiens zinc finger protein 324 (ZNF324), mRNA.	254					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(2)|prostate(2)|urinary_tract(2)	16		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		CACGCTGGGGAGAAGTCCTTC	0.632000														22			3		0	0	1	0	0
DNM2	1785	broad.mit.edu	37	19	10906768	10906768	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10906768G>A	uc002mpt.2	+	9	1418	c.1228G>A	c.(1228-1230)Gag>Aag	p.E410K	DNM2_uc010dxk.2_Intron|DNM2_uc002mps.2_Intron|DNM2_uc010dxl.2_Missense_Mutation_p.E410K|DNM2_uc002mpu.2_Missense_Mutation_p.E410K|DNM2_uc002mpv.2_Intron|DNM2_uc002mpw.3_Intron	NM_001005360	NP_001005360	P50570	DYN2_HUMAN	Homo sapiens dynamin 2 (DNM2), transcript variant 1, mRNA.	410					G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	Golgi membrane|cell junction|cytosol|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding	p.E410K(2)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			CTTGGCATTCGAGGCCATTGT	0.512000			"""F, N, Splice, Mis, O"""		ETP ALL									140			14		0	0	1	0	0
COL4A6	1288	broad.mit.edu	37	X	107436903	107436903	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:107436903G>A	uc004enw.4	-	16	1133	c.1030C>T	c.(1030-1032)Cca>Tca	p.P344S	COL4A6_uc004env.4_Missense_Mutation_p.P343S|COL4A6_uc011msn.2_Missense_Mutation_p.P343S|COL4A6_uc010npk.3_Missense_Mutation_p.P343S	NM_001847	NP_001838	Q14031	CO4A6_HUMAN	Homo sapiens collagen, type IV, alpha 6 (COL4A6), transcript variant A, mRNA.	344	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding	p.G344V(1)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						TCTGGGCCTGGCAGGCCAATG	0.383000									Alport syndrome with Diffuse Leiomyomatosis					89			51		0	0	1	0	0
RNF44	22838	broad.mit.edu	37	5	175959071	175959071	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:175959071G>A	uc003mek.1	-	2	756	c.231C>T	c.(229-231)ggC>ggT	p.G77G	RNF44_uc011dfo.1_5'UTR|RNF44_uc003mel.1_5'Flank	NM_014901	NP_055716	Q7L0R7	RNF44_HUMAN	Homo sapiens ring finger protein 44 (RNF44), mRNA.	77	Pro-rich.						zinc ion binding	p.A76A(1)		endometrium(2)|lung(3)|prostate(1)|skin(1)|stomach(1)	8	all_cancers(89;0.0029)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGGGGCTCCCGCCGGCAGGAG	0.711000														12			9		0	0	1	0	0
PKD2	5311	broad.mit.edu	37	4	88957479	88957479	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:88957479C>A	uc003hre.3	+	2	904	c.817C>A	c.(817-819)Ctg>Atg	p.L273M		NM_000297	NP_000288	Q13563	PKD2_HUMAN	Homo sapiens polycystic kidney disease 2 (autosomal dominant) (PKD2), mRNA.	273						basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body	calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		CTTTAAAACTCTGTCTTCCAT	0.413000														49			19		5.35267e-07	6.12308e-07	1	1	0
SOCS4	122809	broad.mit.edu	37	14	55510641	55510641	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:55510641C>T	uc021rti.1	+	0	882	c.882C>T	c.(880-882)taC>taT	p.Y294Y	SOCS4_uc001xbo.3_Silent_p.Y294Y|SOCS4_uc001xbp.3_Silent_p.Y294Y	NM_199421	NP_955453	Q8WXH5	SOCS4_HUMAN	Homo sapiens suppressor of cytokine signaling 4 (SOCS4), transcript variant 1, mRNA.	294	SH2.				intracellular signal transduction|negative regulation of signal transduction|regulation of growth					central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	14						TGGATAAATACGCAGCCGAAG	0.428000														61			32		0	0	1	0	0
RNF43	54894	broad.mit.edu	37	17	56438188	56438188	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:56438188C>A	uc002iwf.3	-	5	2761	c.805G>T	c.(805-807)Gcc>Tcc	p.A269S	RNF43_uc010wnv.2_Missense_Mutation_p.A228S|RNF43_uc002iwh.4_Missense_Mutation_p.A269S|RNF43_uc002iwg.4_Missense_Mutation_p.A269S|RNF43_uc010dcw.3_Missense_Mutation_p.A142S	NM_017763	NP_060233	Q68DV7	RNF43_HUMAN	Homo sapiens ring finger protein 43 (RNF43), mRNA.	269						endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CACACAGGGGCTGAGCTGCAG	0.632000														17			14		1.49906e-05	1.66078e-05	1	1	0
ASAP1	50807	broad.mit.edu	37	8	131124478	131124478	+	Nonsense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:131124478C>A	uc003yta.2	-	23	2491	c.2263G>T	c.(2263-2265)Gga>Tga	p.G755*	ASAP1_uc003ysz.2_Nonsense_Mutation_p.G566*|ASAP1_uc011liw.2_Nonsense_Mutation_p.G748*	NM_018482	NP_060952	Q9ULH1	ASAP1_HUMAN	Homo sapiens ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 (ASAP1), transcript variant 1, mRNA.	755					cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|SH3 domain binding|cytoskeletal adaptor activity|zinc ion binding			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						GTGCTGAATCCTGGCAGTGCC	0.572000														73			7		0.00198382	0.00208369	1	1	0
P2RY1	5028	broad.mit.edu	37	3	152553954	152553954	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:152553954G>T	uc003ezq.3	+	0	1219	c.383G>T	c.(382-384)aGg>aTg	p.R128M		NM_002563	NP_002554	P47900	P2RY1_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 1 (P2RY1), mRNA.	128					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			breast(1)|endometrium(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			AAACTGCAGAGGTTCATCTTT	0.517000														45			37		7.63091e-17	9.69285e-17	1	1	0
HUNK	30811	broad.mit.edu	37	21	33371473	33371473	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:33371473C>T	uc002yph.3	+	10	2481	c.2121C>T	c.(2119-2121)gcC>gcT	p.A707A		NM_014586	NP_055401	P57058	HUNK_HUMAN	Homo sapiens hormonally up-regulated Neu-associated kinase (HUNK), mRNA.	707					multicellular organismal development|signal transduction		ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1)	30						TTGACATGGCCGATGGGGTCA	0.592000														52			20		0	0	1	0	0
ARID1B	57492	broad.mit.edu	37	6	157528784	157528784	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:157528784C>T	uc003qqp.3	+	18	6470	c.6470C>T	c.(6469-6471)gCc>gTc	p.A2157V	ARID1B_uc003qqo.3_Missense_Mutation_p.A2170V|ARID1B_uc003qqn.3_Missense_Mutation_p.A2210V	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN	Homo sapiens AT rich interactive domain 1B (SWI1-like) (ARID1B), transcript variant 1, mRNA.	2157					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		GTCACGATGGCCCAGTACCAG	0.572000														39			34		0	0	1	0	0
CCDC40	55036	broad.mit.edu	37	17	78011930	78011930	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:78011930C>A	uc010dht.3	+	1	69	c.38C>A	c.(37-39)cCg>cAg	p.P13Q	TBC1D16_uc002jxj.3_5'Flank|CCDC40_uc010wub.2_Missense_Mutation_p.P13Q|CCDC40_uc021uem.1_Missense_Mutation_p.P13Q	NM_017950	NP_060420	Q4G0X9	CCD40_HUMAN	Homo sapiens coiled-coil domain containing 40 (CCDC40), transcript variant 1, mRNA.	13					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			AGGTCCCATCCGGAAGATGGA	0.423000														15			4		0.00909568	0.00940365	1	1	0
EDNRB	1910	broad.mit.edu	37	13	78492476	78492476	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:78492476G>A	uc001vkp.1	-	1	656	c.503C>T	c.(502-504)gCa>gTa	p.A168V	BX647243_uc001vks.3_5'Flank|EDNRB_uc001vkq.1_Missense_Mutation_p.A78V|EDNRB_uc001vko.2_Missense_Mutation_p.A78V|EDNRB_uc010aez.1_Missense_Mutation_p.A78V	NM_001201397	NP_001188326	P24530	EDNRB_HUMAN	Homo sapiens endothelin receptor type B (EDNRB), transcript variant 4, mRNA.	78					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction	integral to plasma membrane	endothelin-B receptor activity|peptide hormone binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3)	42		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)	CGGAGATCCTGCCGTCCTGTC	0.582000														21			23		0	0	1	0	0
CCDC54	84692	broad.mit.edu	37	3	107096457	107096457	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:107096457G>T	uc003dwi.1	+	0	270	c.23G>T	c.(22-24)aGg>aTg	p.R8M		NM_032600	NP_115989	Q8NEL0	CCD54_HUMAN	Homo sapiens coiled-coil domain containing 54 (CCDC54), mRNA.	8										NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	19						CACACCAAAAGGGTAAAAGCT	0.398000														68			15		1.62849e-17	2.07712e-17	1	1	0
PHACTR2	9749	broad.mit.edu	37	6	144093464	144093464	+	Silent	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:144093464T>G	uc010khi.3	+	6	1501	c.1302T>G	c.(1300-1302)tcT>tcG	p.S434S	PHACTR2_uc003qjq.4_Silent_p.S423S|PHACTR2_uc010khh.3_Silent_p.S343S|PHACTR2_uc003qjr.4_Silent_p.S354S	NM_001100164	NP_001093634	O75167	PHAR2_HUMAN	Homo sapiens phosphatase and actin regulator 2 (PHACTR2), transcript variant 1, mRNA.	423							actin binding|protein phosphatase inhibitor activity			NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30				OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)		TGGGCGAATCTTCAGAATCCT	0.512000														46			5		0	0	1	0	0
TXNDC11	51061	broad.mit.edu	37	16	11785171	11785171	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:11785171C>T	uc010buu.1	-	8	2018	c.1956G>A	c.(1954-1956)aaG>aaA	p.K652K	TXNDC11_uc002dbg.1_Silent_p.K625K	NM_015914	NP_056998	Q6PKC3	TXD11_HUMAN	Homo sapiens thioredoxin domain containing 11 (TXNDC11), mRNA.	652	Thioredoxin 2.				cell redox homeostasis	endoplasmic reticulum membrane|integral to membrane				endometrium(3)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						TCAGTGCTTGCTTTGGATCCA	0.428000														46			32		0	0	1	0	0
EFTUD2	9343	broad.mit.edu	37	17	42942371	42942371	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:42942371C>T	uc002ihn.2	-	13	1473	c.1212G>A	c.(1210-1212)acG>acA	p.T404T	EFTUD2_uc010wje.1_Silent_p.T369T|EFTUD2_uc010wjf.1_Silent_p.T394T	NM_004247	NP_001136077	Q15029	U5S1_HUMAN	Homo sapiens elongation factor Tu GTP binding domain containing 2 (EFTUD2), transcript variant 1, mRNA.	404						Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				GCTCCTCCTTCGTCAGGTGGA	0.547000											OREG0024466	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		47			23		0	0	1	0	0
TTLL12	23170	broad.mit.edu	37	22	43568470	43568470	+	Missense_Mutation	SNP	G	A	A	rs11554504		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:43568470G>A	uc003bdq.3	-	9	1494	c.1432C>T	c.(1432-1434)Cgg>Tgg	p.R478W	TTLL12_uc003bdp.3_5'Flank|TTLL12_uc021wqu.1_5'Flank	NM_015140	NP_055955	Q14166	TTL12_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 12 (TTLL12), mRNA.	478	TTL.				protein modification process		tubulin-tyrosine ligase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	13		Ovarian(80;0.221)|Glioma(61;0.222)				CTCACTGACCGCAGCAGCACG	0.577000														40			5		0	0	1	0	0
SAMHD1	25939	broad.mit.edu	37	20	35559184	35559184	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:35559184C>T	uc002xgh.2	-	4	804	c.604G>A	c.(604-606)Gct>Act	p.A202T		NM_015474	NP_056289	Q9Y3Z3	SAMH1_HUMAN	Homo sapiens SAM domain and HD domain 1 (SAMHD1), mRNA.	202	HD.				defense response to virus|innate immune response|regulation of innate immune response	nucleus	metal ion binding|phosphoric diester hydrolase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20		Myeloproliferative disorder(115;0.00878)				CAAAGTCCAGCAATCTGAACA	0.413000														115			12		0	0	1	0	0
LY75-CD302	100526664	broad.mit.edu	37	2	160750522	160750522	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:160750522A>C	uc002ubb.4	-	2	614	c.540T>G	c.(538-540)caT>caG	p.H180Q	LY75-CD302_uc010fos.3_Missense_Mutation_p.H180Q|LY75-CD302_uc002ubc.4_Missense_Mutation_p.H180Q|LY75-CD302_uc010fot.2_Missense_Mutation_p.H180Q	NM_001198759	NP_001185688	O60449	LY75_HUMAN	Homo sapiens LY75-CD302 readthrough (LY75-CD302), transcript variant 1, mRNA.	180	Fibronectin type-II.				endocytosis|immune response|inflammatory response	integral to plasma membrane	receptor activity|sugar binding										TGCAATCATGATGCCAGGTCC	0.443000														89			7		0	0	1	0	0
MYOZ2	51778	broad.mit.edu	37	4	120072113	120072113	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:120072113G>A	uc003icp.4	+	2	376	c.163G>A	c.(163-165)Gcc>Acc	p.A55T		NM_016599	NP_057683	Q9NPC6	MYOZ2_HUMAN	Homo sapiens myozenin 2 (MYOZ2), mRNA.	55							protein phosphatase 2B binding			endometrium(1)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						TAACCGTGGTGCCAGGCTATT	0.388000														61			44		0	0	1	0	0
FBN2	2201	broad.mit.edu	37	5	127641519	127641519	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:127641519A>G	uc003kuu.3	-	42	5983	c.5544T>C	c.(5542-5544)tgT>tgC	p.C1848C		NM_001999	NP_001990	P35556	FBN2_HUMAN	Homo sapiens fibrillin 2 (FBN2), mRNA.	1848	EGF-like 29; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GATTACCTTCACAAACCAACA	0.358000														93			9		0	0	1	0	0
CDRT1	374286	broad.mit.edu	37	17	15518967	15518967	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:15518967G>T	uc002gor.1	-	7	1929	c.1592C>A	c.(1591-1593)tCt>tAt	p.S531Y	CDRT1_uc002gov.4_Missense_Mutation_p.S221Y			O95170	CDRT1_HUMAN	Homo sapiens tripartite motif containing 16 (TRIM16), mRNA.	221										endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(2;1.36e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0541)		ACCAGGGTTAGATGCTGCCCC	0.517000														24			14		0.000308642	0.000331285	1	1	0
PUS1	80324	broad.mit.edu	37	12	132426280	132426280	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:132426280G>A	uc001ujf.3	+	4	1443	c.988G>A	c.(988-990)Gga>Aga	p.G330R	PUS1_uc001ujg.3_Missense_Mutation_p.G302R|PUS1_uc001ujh.3_Missense_Mutation_p.G302R|PUS1_uc001uji.3_Missense_Mutation_p.G277R	NM_025215	NP_001002020	Q9Y606	TRUA_HUMAN	Homo sapiens pseudouridylate synthase 1 (PUS1), transcript variant 1, mRNA.	330						mitochondrion	RNA binding|pseudouridine synthase activity|pseudouridylate synthase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	11	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.05e-08)|Epithelial(86;2.51e-07)|all cancers(50;2.94e-07)		CAAGGCGCCCGGACTCGGCCT	0.647000														40			37		0	0	1	0	0
IFT43	112752	broad.mit.edu	37	14	76548704	76548704	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:76548704C>A	uc001xsg.2	+	4	411	c.377C>A	c.(376-378)cCt>cAt	p.P126H	IFT43_uc001xsf.2_Non-coding_Transcript|IFT43_uc010asl.1_Missense_Mutation_p.P121H|IFT43_uc010asm.1_Missense_Mutation_p.P121H|IFT43_uc010tve.2_Non-coding_Transcript	NM_052873	NP_443105	Q96FT9	IFT43_HUMAN	Homo sapiens intraflagellar transport 43 homolog (Chlamydomonas) (IFT43), transcript variant 1, mRNA.	121					cilium morphogenesis|intraflagellar retrograde transport					endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						GTGGCAGCCCCTCCCAGGTAG	0.458000														205			16		0.00400662	0.00419118	1	1	0
EFCAB6	64800	broad.mit.edu	37	22	44079661	44079661	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:44079661G>A	uc003bdy.2	-	11	1531	c.1217C>T	c.(1216-1218)gCg>gTg	p.A406V	EFCAB6_uc003bdz.2_Missense_Mutation_p.A254V|EFCAB6_uc010gzi.2_Missense_Mutation_p.A254V|EFCAB6_uc010gzk.1_Intron|EFCAB6_uc011aqa.2_Intron|EFCAB6_uc003bea.2_Missense_Mutation_p.A403V	NM_022785	NP_942153	Q5THR3	EFCB6_HUMAN	Homo sapiens EF-hand calcium binding domain 6 (EFCAB6), transcript variant 1, mRNA.	406	EF-hand 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding	p.A406A(1)		breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				CTTCAGTGACGCAGAGTGATC	0.363000														91			47		0	0	1	0	0
USP10	9100	broad.mit.edu	37	16	84779110	84779110	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:84779110C>A	uc010voe.2	+	4	1286	c.1035C>A	c.(1033-1035)tcC>tcA	p.S345S	USP10_uc002fii.3_Silent_p.S341S|USP10_uc010vof.2_Intron|USP10_uc002fij.3_5'UTR	NM_005153	NP_005144	Q14694	UBP10_HUMAN	Homo sapiens ubiquitin specific peptidase 10 (USP10), mRNA.	341					DNA damage response, signal transduction by p53 class mediator|DNA repair|protein deubiquitination|ubiquitin-dependent protein catabolic process	early endosome|intermediate filament cytoskeleton|nucleus	cystic fibrosis transmembrane conductance regulator binding|p53 binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1)	17						AGCCCAAGTCCTGGGCCAGCC	0.572000														12			3		0.004672	0.00486265	1	1	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19411990	19411990	+	RNA	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:19411990C>T	uc010tcj.1	-	0		c.34120G>A								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		TTGTTGTTAACGGCATACACT	0.398000														49			39		0	0	1	0	0
ANKS6	203286	broad.mit.edu	37	9	101530377	101530377	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:101530377C>T	uc004ayu.3	-	10	2149	c.2128G>A	c.(2128-2130)Gct>Act	p.A710T	ANKS6_uc004ayv.2_Missense_Mutation_p.A172T|ANKS6_uc004ayx.2_Non-coding_Transcript|ANKS6_uc004ayy.2_Non-coding_Transcript|ANKS6_uc004ayt.3_Missense_Mutation_p.A409T	NM_173551	NP_775822	Q68DC2	ANKS6_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 6 (ANKS6), mRNA.	710	Ser-rich.									endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21		Acute lymphoblastic leukemia(62;0.0527)				CCAACAGGAGCGCTGCCACCT	0.602000														4			4		0	0	1	0	0
CTNS	1497	broad.mit.edu	37	17	3559990	3559990	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:3559990C>T	uc002fwa.3	+	8	1052	c.582C>T	c.(580-582)taC>taT	p.Y194Y	CTNS_uc002fwb.3_Silent_p.Y194Y|CTNS_uc010ckj.3_Silent_p.Y194Y|CTNS_uc010vrv.2_Silent_p.Y47Y|CTNS_uc010vrw.2_Silent_p.Y86Y	NM_001031681	NP_001026851	O60931	CTNS_HUMAN	Homo sapiens cystinosin, lysosomal cystine transporter (CTNS), transcript variant 1, mRNA.	194					ATP metabolic process|brain development|cognition|glutathione metabolic process	integral to membrane|late endosome|lysosomal membrane	L-cystine transmembrane transporter activity			NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)	10				COAD - Colon adenocarcinoma(5;0.0829)	L-Cystine(DB00138)	TCCTCAAATACCCCAACGGAG	0.597000														37			24		0	0	1	0	0
RIOK1	83732	broad.mit.edu	37	6	7401281	7401281	+	Nonsense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:7401281G>T	uc003mxn.3	+	5	745	c.571G>T	c.(571-573)Gaa>Taa	p.E191*	RIOK1_uc003mxm.1_Nonsense_Mutation_p.E87*|RIOK1_uc003mxo.3_5'Flank	NM_031480	NP_694550	Q9BRS2	RIOK1_HUMAN	Homo sapiens RIO kinase 1 (yeast) (RIOK1), transcript variant 1, mRNA.	191	Protein kinase.						ATP binding|protein serine/threonine kinase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					CACAGGAAAAGAAGTGAGCTC	0.338000														30			13		1.52009e-12	1.87729e-12	1	1	0
ZNF486	90649	broad.mit.edu	37	19	20295172	20295172	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:20295172T>C	uc002nou.2	+	1	95	c.38T>C	c.(37-39)tTg>tCg	p.L13S		NM_052852	NP_443084	Q96H40	ZN486_HUMAN	Homo sapiens zinc finger protein 486 (ZNF486), mRNA.	13	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11						CAGGAATCATTGCAATTTAGA	0.403000														165			12		0	0	1	0	0
HSPH1	10808	broad.mit.edu	37	13	31725128	31725128	+	Silent	SNP	G	A	A	rs144091980		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:31725128G>A	uc001utl.3	-	6	1141	c.870C>T	c.(868-870)atC>atT	p.I290I	HSPH1_uc001utj.3_Silent_p.I288I|HSPH1_uc001utk.3_Silent_p.I288I|HSPH1_uc010aaw.3_Silent_p.I247I|HSPH1_uc010tds.2_Silent_p.I212I|HSPH1_uc010tdt.1_Non-coding_Transcript	NM_006644	NP_006635	Q92598	HS105_HUMAN	Homo sapiens heat shock 105kDa/110kDa protein 1 (HSPH1), mRNA.	288					positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein	cytoplasm|extracellular region	ATP binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27		Lung SC(185;0.0257)		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)		TAAAGCATTCGATATTCAGTG	0.373000														34			12		0	0	1	0	0
ACTR3	10096	broad.mit.edu	37	2	114691959	114691959	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:114691959C>A	uc002tkx.1	+	5	856	c.536C>A	c.(535-537)cCt>cAt	p.P179H	ACTR3_uc010yyc.1_Missense_Mutation_p.P117H|ACTR3_uc010yyd.1_Missense_Mutation_p.P128H	NM_005721	NP_005712	P61158	ARP3_HUMAN	Homo sapiens ARP3 actin-related protein 3 homolog (yeast) (ACTR3), mRNA.	179					cellular component movement|cilium morphogenesis	Arp2/3 protein complex	ATP binding|actin binding			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(2)	15						CATGTCATTCCTGTGGTAAGG	0.378000														140			8		1.26484e-09	1.50989e-09	1	1	0
PSME4	23198	broad.mit.edu	37	2	54163276	54163276	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:54163276C>T	uc002rxp.2	-	6	838	c.782G>A	c.(781-783)cGa>cAa	p.R261Q	PSME4_uc010yop.1_Missense_Mutation_p.R147Q|PSME4_uc010yoq.1_Non-coding_Transcript|PSME4_uc010fbu.1_5'UTR|PSME4_uc010fbv.1_Intron|PSME4_uc021vho.1_Missense_Mutation_p.R246Q	NM_014614	NP_055429	Q14997	PSME4_HUMAN	Homo sapiens proteasome (prosome, macropain) activator subunit 4 (PSME4), mRNA.	261					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding	p.K260R(1)		breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			TGTAGCCAATCGAGCAAAGAG	0.358000														69			36		0	0	1	0	0
ZNF772	400720	broad.mit.edu	37	19	57987134	57987134	+	Silent	SNP	G	A	A	rs140078393		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:57987134G>A	uc002qot.3	-	2	354	c.93C>T	c.(91-93)gaC>gaT	p.D31D	ZNF772_uc010ygy.2_Silent_p.D31D|ZNF772_uc010ygz.2_Intron|ZNF772_uc010yha.2_Silent_p.D18D|ZNF772_uc002qou.3_Intron	NM_001024596	NP_001019767	Q68DY9	ZN772_HUMAN	Homo sapiens zinc finger protein 772 (ZNF772), transcript variant 1, mRNA.	31	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.D31D(2)		breast(1)|endometrium(1)|large_intestine(4)|lung(3)	9		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)|Lung(386;0.174)		ACACGAACACGTCCTCAAAGT	0.567000														34			22		0	0	1	0	0
DDHD2	23259	broad.mit.edu	37	8	38090666	38090666	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:38090666T>G	uc003xlc.3	+	1	354	c.154T>G	c.(154-156)Tct>Gct	p.S52A	DDHD2_uc003xla.2_Missense_Mutation_p.S52A|DDHD2_uc003xlb.3_Missense_Mutation_p.S52A|DDHD2_uc011lbl.1_5'UTR	NM_001164232	NP_056029	O94830	DDHD2_HUMAN	Homo sapiens DDHD domain containing 2 (DDHD2), transcript variant 2, mRNA.	52	WWE.				lipid catabolic process	centrosome	hydrolase activity|metal ion binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)|urinary_tract(2)	28	Colorectal(12;0.000442)	all_lung(54;0.0657)|Lung NSC(58;0.175)	BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977)			GATAATAGATTCTAAGGAGAC	0.403000														42			25		0	0	1	0	0
FICD	11153	broad.mit.edu	37	12	108910886	108910886	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:108910886C>T	uc001tmx.1	+	1	283	c.137C>T	c.(136-138)gCt>gTt	p.A46V		NM_007076	NP_009007	Q9BVA6	FICD_HUMAN	Homo sapiens FIC domain containing (FICD), mRNA.	46					negative regulation of Rho GTPase activity	integral to membrane	binding|protein adenylyltransferase activity			NS(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|upper_aerodigestive_tract(2)	15						CCGCTGGGGGCTGTGGAGGAG	0.657000														17			13		0	0	1	0	0
DPYSL4	10570	broad.mit.edu	37	10	134012358	134012358	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:134012358G>A	uc009ybb.3	+	7	848	c.694G>A	c.(694-696)Gag>Aag	p.E232K		NM_006426	NP_006417	O14531	DPYL4_HUMAN	Homo sapiens dihydropyrimidinase-like 4 (DPYSL4), mRNA.	232					axon guidance|pyrimidine base catabolic process	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)		TCCCCAGGTGGAGGCTGAGGC	0.657000														18			8		0	0	1	0	0
FSD1	79187	broad.mit.edu	37	19	4323207	4323207	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:4323207C>A	uc002lzy.2	+	10	1417	c.1264C>A	c.(1264-1266)Ctg>Atg	p.L422M	FSD1_uc002maa.2_Missense_Mutation_p.L235M	NM_024333	NP_077309	Q9BTV5	FSD1_HUMAN	Homo sapiens fibronectin type III and SPRY domain containing 1 (FSD1), mRNA.	422	B30.2/SPRY.				cell division|mitosis	cleavage furrow|microtubule|microtubule organizing center|nucleus				breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.034)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCCGACTGCCTGGGTGTGCA	0.657000														45			30		3.57733e-08	4.17926e-08	1	1	0
FAM216A	29902	broad.mit.edu	37	12	110922992	110922992	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:110922992G>A	uc001tqu.4	+	2	743	c.294G>A	c.(292-294)gcG>gcA	p.A98A	FAM216A_uc010sxz.1_Silent_p.A3A|FAM216A_uc009zvo.2_Silent_p.A98A	NM_013300	NP_037432	Q8WUB2	CL024_HUMAN	Homo sapiens chromosome 12 open reading frame 24 (C12orf24), mRNA.	98																	TGATGGAGGCGTCCTTTTTCA	0.393000														88			11		0	0	1	0	0
FAM175A	84142	broad.mit.edu	37	4	84383731	84383731	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:84383731G>T	uc003hou.2	-	8	1186	c.1121C>A	c.(1120-1122)aCt>aAt	p.T374N	FAM175A_uc003hot.2_Missense_Mutation_p.T202N|FAM175A_uc003hov.2_Missense_Mutation_p.T265N	NM_139076	NP_620775	Q6UWZ7	F175A_HUMAN	Homo sapiens family with sequence similarity 175, member A (FAM175A), mRNA.	374					G2/M transition DNA damage checkpoint|chromatin modification|double-strand break repair|positive regulation of DNA repair|response to ionizing radiation	BRCA1-A complex	polyubiquitin binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	13						ACTACTACCAGTATCTGCTTT	0.383000														116			69		5.98616e-33	7.91783e-33	1	1	0
JAG1	182	broad.mit.edu	37	20	10625533	10625533	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:10625533C>T	uc002wnw.2	-	17	2838	c.2322G>A	c.(2320-2322)tgG>tgA	p.W774*	JAG1_uc010gcd.1_Nonsense_Mutation_p.W332*	NM_000214	NP_000205	P78504	JAG1_HUMAN	Homo sapiens jagged 1 (JAG1), mRNA.	774	EGF-like 14.				Notch receptor processing|Notch signaling pathway|angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	Notch binding|calcium ion binding|growth factor activity|structural molecule activity			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						TGGGCCCCTCCCAGCCTTCCT	0.587000									Alagille Syndrome					140			10		0	0	1	0	0
DNAI1	27019	broad.mit.edu	37	9	34514424	34514424	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:34514424C>T	uc003zum.3	+	16	1795	c.1602C>T	c.(1600-1602)gaC>gaT	p.D534D		NM_012144	NP_036276	Q9UI46	DNAI1_HUMAN	Homo sapiens dynein, axonemal, intermediate chain 1 (DNAI1), mRNA.	534					cell projection organization	cilium axoneme|cytoplasm|dynein complex|microtubule	motor activity			autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1)	34	all_epithelial(49;0.244)		LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)		AATTCCTCGACACCTATGACG	0.557000									Kartagener syndrome					111			8		0	0	1	0	0
C19orf26	255057	broad.mit.edu	37	19	1231117	1231117	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:1231117C>T	uc002lrm.2	-	8	1394	c.1119G>A	c.(1117-1119)ccG>ccA	p.P373P		NM_152769	NP_689982	Q8N350	DOS_HUMAN	Homo sapiens chromosome 19 open reading frame 26 (C19orf26), mRNA.	399						integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GAGCAGGGGGCGGGCTGGCCA	0.701000										HNSCC(14;0.022)				15			9		0	0	1	0	0
HSPA12A	259217	broad.mit.edu	37	10	118464710	118464710	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:118464710C>T	uc001lct.3	-	2	311	c.206G>A	c.(205-207)gGc>gAc	p.G69D	HSPA12A_uc001lcu.3_5'UTR	NM_025015	NP_079291	O43301	HS12A_HUMAN	Homo sapiens heat shock 70kDa protein 12A (HSPA12A), mRNA.	69							ATP binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32				all cancers(201;0.0158)		GTAGGCATAGCCACTGGATGT	0.567000														35			27		0	0	1	0	0
PTPRH	5794	broad.mit.edu	37	19	55710122	55710122	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:55710122C>A	uc002qjq.3	-	7	1652	c.1579G>T	c.(1579-1581)Ggt>Tgt	p.G527C	PTPRH_uc010esv.3_Missense_Mutation_p.G349C|PTPRH_uc002qjs.2_Missense_Mutation_p.G534C	NM_002842	NP_002833	Q9HD43	PTPRH_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, H (PTPRH), transcript variant 1, mRNA.	527	Fibronectin type-III 6.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.G527S(2)		breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		ATGTCAGTACCTGAGGTGCTT	0.597000														48			4		0.00024832	0.000267289	1	1	0
CAPN13	92291	broad.mit.edu	37	2	30980986	30980986	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:30980986G>A	uc021vfn.1	-	6	824	c.792C>T	c.(790-792)ggC>ggT	p.G264G	CAPN13_uc021vfm.1_Silent_p.G264G|CAPN13_uc002rnp.1_Silent_p.G264G	NM_144575	NP_653176	Q6MZZ7	CAN13_HUMAN	Homo sapiens calpain 13 (CAPN13), mRNA.	264	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)					TTTCTTCCCAGCCCCTTCGGT	0.512000														10			4		0	0	1	0	0
SLC8A2	6543	broad.mit.edu	37	19	47960708	47960708	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:47960708C>T	uc010ele.3	-	1	835	c.819G>A	c.(817-819)gaG>gaA	p.E273E	SLC8A2_uc002pgx.3_Silent_p.E273E|SLC8A2_uc010xyq.2_Silent_p.E29E|SLC8A2_uc010xyr.2_Intron			Q9UPR5	NAC2_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 2 (SLC8A2), mRNA.	273					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		GGGGGTCGCCCTCGGCGCCTA	0.701000														3			6		0	0	1	0	0
SACS	26278	broad.mit.edu	37	13	23911012	23911012	+	Missense_Mutation	SNP	T	C	C	rs143414642	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:23911012T>C	uc001uon.2	-	9	7592	c.7003A>G	c.(7003-7005)Atg>Gtg	p.M2335V	SACS_uc001uoo.2_Missense_Mutation_p.M2188V|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA.	2335					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|Hsp70 protein binding|chaperone binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		ATAATTGACATCTTAGTGATT	0.338000														82			8		0	0	1	0	0
GALNT4	8693	broad.mit.edu	37	12	89917296	89917296	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:89917296C>A	uc001tbd.3	-	0	1288	c.1031G>T	c.(1030-1032)aGg>aTg	p.R344M	GALNT4_uc001tba.3_Intron|GALNT4_uc001tbb.3_Intron|GALNT4_uc010sun.2_Intron|GALNT4_uc001tbc.3_Intron|GALNT4_uc001tbe.3_Missense_Mutation_p.R341M|GALNT4_uc010suo.2_Missense_Mutation_p.R172M	NM_003774	NP_003765	Q8N4A0	GALT4_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 4 (GalNAc-T4) (GALNT4), mRNA.	344	Catalytic subdomain B.				carbohydrate metabolic process	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			endometrium(4)|kidney(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)	14						CTGCCACACCCTAAAAGACAG	0.517000														102			42		1.7489e-18	2.24252e-18	1	1	0
EIF2C2	27161	broad.mit.edu	37	8	141551349	141551349	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:141551349G>T	uc003yvn.3	-	14	1989	c.1948C>A	c.(1948-1950)Ctc>Atc	p.L650I	EIF2C2_uc010meo.3_Missense_Mutation_p.L650I|EIF2C2_uc010men.3_Missense_Mutation_p.L573I	NM_012154	NP_036286	Q9UKV8	AGO2_HUMAN	Homo sapiens eukaryotic translation initiation factor 2C, 2 (EIF2C2), transcript variant 1, mRNA.	650	Piwi.				mRNA cleavage involved in gene silencing by miRNA|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|pre-miRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	RNA-induced silencing complex|cytoplasmic mRNA processing body|cytosol|mRNA cap binding complex|micro-ribonucleoprotein complex|nucleus|polysome	RNA 7-methylguanosine cap binding|endoribonuclease activity, cleaving siRNA-paired mRNA|metal ion binding|protein binding|siRNA binding|translation initiation factor activity			NS(1)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	33	all_cancers(97;2.54e-14)|all_epithelial(106;5.99e-13)|Lung NSC(106;1.45e-05)|all_lung(105;2.07e-05)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.158)			AACTGGATGAGGAGCTCGCGG	0.632000														9			4		0.00024832	0.000267289	1	1	0
ABCA4	24	broad.mit.edu	37	1	94467503	94467503	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:94467503C>T	uc001dqh.3	-	44	6297	c.6193G>A	c.(6193-6195)Gac>Aac	p.D2065N	ABCA4_uc001dqi.1_Missense_Mutation_p.D184N	NM_000350	NP_000341	P78363	ABCA4_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4), mRNA.	2065	ABC transporter 2.				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		GCCAGGCAGTCGGCGTAGACA	0.562000														28			37		0	0	1	0	0
CACNG1	786	broad.mit.edu	37	17	65052275	65052275	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:65052275G>A	uc002jfu.3	+	3	682	c.557G>A	c.(556-558)tGt>tAt	p.C186Y		NM_000727	NP_000718	Q06432	CCG1_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 1 (CACNG1), mRNA.	186					muscle contraction	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(1)|large_intestine(2)|lung(2)|prostate(1)|skin(2)	8	all_cancers(12;1.04e-10)|Breast(2;1.45e-16)|all_epithelial(3;4.81e-12)				Amlodipine(DB00381)|Diltiazem(DB00343)|Ibutilide(DB00308)|Lercanidipine(DB00528)|Magnesium Sulfate(DB00653)|Nimodipine(DB00393)|Nitrendipine(DB01054)|Verapamil(DB00661)	GCCTGCGCCTGTGCCGCCTTC	0.602000														41			18		0	0	1	0	0
BNIPL	149428	broad.mit.edu	37	1	151011359	151011359	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:151011359C>T	uc001ewl.2	+	3	463	c.290C>T	c.(289-291)aCt>aTt	p.T97I	BNIPL_uc009wmi.2_Missense_Mutation_p.T15I|BNIPL_uc009wmj.2_Non-coding_Transcript	NM_138278	NP_001153114	Q7Z465	BNIPL_HUMAN	Homo sapiens BCL2/adenovirus E1B 19kD interacting protein like (BNIPL), transcript variant 1, mRNA.	97					apoptosis|induction of apoptosis|negative regulation of cell proliferation|regulation of growth rate	cytosol|nucleus	identical protein binding			autonomic_ganglia(1)|endometrium(3)|large_intestine(1)|lung(4)|skin(1)	10	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CTGAGTCTGACTAAGGGGCCT	0.582000														48			5		0	0	1	0	0
NUPR1	26471	broad.mit.edu	37	16	28549344	28549344	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:28549344C>T	uc002dqd.1	-	1	566	c.299G>A	c.(298-300)cGc>cAc	p.R100H	NPIPL1_uc010vct.2_Intron|NUPR1_uc002dqe.1_Missense_Mutation_p.R82H	NM_001042483	NP_001035948	O60356	NUPR1_HUMAN	Homo sapiens nuclear protein, transcriptional regulator, 1 (NUPR1), transcript variant 1, mRNA.	82					cell growth|induction of apoptosis	nucleus				breast(1)|large_intestine(1)|lung(1)	3						TCTGTCTCAGCGCCGTGCCCC	0.622000														196			10		0	0	1	0	0
BCL11A	53335	broad.mit.edu	37	2	60689104	60689104	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:60689104A>C	uc002sae.1	-	3	1171	c.943T>G	c.(943-945)Ttc>Gtc	p.F315V	BCL11A_uc002sab.3_Missense_Mutation_p.F315V|BCL11A_uc002sac.3_Intron|BCL11A_uc010ypi.2_Intron|BCL11A_uc010ypj.2_Missense_Mutation_p.F281V|BCL11A_uc002sad.1_Missense_Mutation_p.F163V|BCL11A_uc002saf.1_Missense_Mutation_p.F281V	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	Homo sapiens B-cell CLL/lymphoma 11A (zinc finger protein) (BCL11A), transcript variant 1, mRNA.	315	Pro-rich.				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			CTCCTAGAGAAATCCATGGCG	0.612000			T	IGH@	B-CLL									104			11		0	0	1	0	0
EPC2	26122	broad.mit.edu	37	2	149543884	149543884	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:149543884G>A	uc010zbt.2	+	13	2389	c.2362G>A	c.(2362-2364)Gaa>Aaa	p.E788K		NM_015630	NP_056445	Q52LR7	EPC2_HUMAN	Homo sapiens enhancer of polycomb homolog 2 (Drosophila) (EPC2), mRNA.	788					DNA repair|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.0516)		AGAGAACCACGAACCAGAAAG	0.373000														9			5		0	0	1	0	0
HTR5A	3361	broad.mit.edu	37	7	154863181	154863181	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:154863181A>G	uc003wlu.1	+	0	636	c.572A>G	c.(571-573)gAg>gGg	p.E191G	LOC100128264_uc003wlt.2_5'UTR|LOC100128264_uc011kvt.1_5'UTR	NM_024012	NP_076917	P47898	5HT5A_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 5A (HTR5A), mRNA.	191						integral to plasma membrane	serotonin receptor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		GGCAGCGAGGAGTGCCAGGTA	0.607000														31			7		0	0	1	0	0
P2RY8	286530	broad.mit.edu	37	X	1585028	1585028	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:1585028C>T	uc022brv.1	-	0	424	c.424G>A	c.(424-426)Gcc>Acc	p.A142T	CRLF2_uc022brt.1_Intron|P2RY8_uc004cpz.2_Missense_Mutation_p.A142T	NM_178129	NP_835230	Q86VZ1	P2RY8_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 8 (P2RY8), mRNA.	142						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.A142S(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GCACACGCGGCCACCGCGTAA	0.682000			T	CRLF2	"""B-ALL, Downs associated ALL"""									8			8		0	0	1	0	0
MUC2	4583	broad.mit.edu	37	11	1090362	1090362	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:1090362G>A	uc001lsx.1	+	26	3685	c.3658G>A	c.(3658-3660)Gtc>Atc	p.V1220I		NM_002457	NP_002448	Q02817	MUC2_HUMAN	Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA.	1220						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)	CTCCCAAGTCGTCTGCAGGCC	0.657000														8			5		0	0	1	0	0
ARHGEF18	23370	broad.mit.edu	37	19	7509119	7509119	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:7509119C>T	uc002mgi.3	+	3	1079	c.826C>T	c.(826-828)Cgg>Tgg	p.R276W	ARHGEF18_uc010xjm.1_Missense_Mutation_p.R118W|ARHGEF18_uc002mgh.3_Missense_Mutation_p.R118W|ARHGEF18_uc002mgj.1_5'Flank	NM_001130955	NP_056133	Q6ZSZ5	ARHGI_HUMAN	Homo sapiens Rho/Rac guanine nucleotide exchange factor (GEF) 18 (ARHGEF18), transcript variant 2, mRNA.	276	DH.				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|regulation of cell shape|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	23		Renal(5;0.0902)				GCACCACGTGCGGACGCTCAA	0.637000														28			22		0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	30934888	30934888	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:30934888G>A	uc002nsu.1	+	1	557	c.419G>A	c.(418-420)cGc>cAc	p.R140H	ZNF536_uc010edd.1_Missense_Mutation_p.R140H	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	140					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.F139F(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					AAGCGCTTCCGCTTCAACAGC	0.637000														20			16		0	0	1	0	0
SNX21	90203	broad.mit.edu	37	20	44463100	44463100	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:44463100A>G	uc002xpv.1	+	1	371	c.282A>G	c.(280-282)gaA>gaG	p.E94E	SNX21_uc002xpt.1_Silent_p.E94E|SNX21_uc002xps.1_Silent_p.E94E|SNX21_uc002xpu.1_Silent_p.E94E|SNX21_uc002xpw.1_5'UTR|SNX21_uc010zxd.1_Silent_p.E85E|SNX21_uc002xpy.1_5'Flank	NM_033421	NP_219489	Q969T3	SNX21_HUMAN	Homo sapiens sorting nexin family member 21 (SNX21), transcript variant 1, mRNA.	94					cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|pancreas(1)	7		Myeloproliferative disorder(115;0.0122)				CGTCAGGAGAAGACGCAGGCG	0.667000														11			5		0	0	1	0	0
DPP8	54878	broad.mit.edu	37	15	65759506	65759506	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:65759506G>T	uc002aov.3	-	12	3218	c.1640C>A	c.(1639-1641)cCt>cAt	p.P547H	DPP8_uc002aow.3_Missense_Mutation_p.P547H|DPP8_uc010uiv.2_Non-coding_Transcript|DPP8_uc021soz.1_Missense_Mutation_p.P531H|DPP8_uc002aox.3_Missense_Mutation_p.P531H|DPP8_uc002aoy.3_Missense_Mutation_p.P547H|DPP8_uc002aoz.3_Missense_Mutation_p.P531H|DPP8_uc010bhj.3_Missense_Mutation_p.P547H|DPP8_uc010bhi.3_5'UTR|DPP8_uc010bhk.1_Missense_Mutation_p.P116H	NM_130434	NP_569118	Q6V1X1	DPP8_HUMAN	Homo sapiens dipeptidyl-peptidase 8 (DPP8), transcript variant 1, mRNA.	547					immune response|proteolysis	cytoplasm|membrane|nucleus	aminopeptidase activity|dipeptidyl-peptidase activity|serine-type peptidase activity			NS(1)|breast(2)|endometrium(3)|large_intestine(11)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						ATGCTCTAAAGGGGAGTCTTT	0.443000														46			7		8.12818e-05	8.84769e-05	1	1	0
KCNH3	23416	broad.mit.edu	37	12	49950231	49950231	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:49950231A>G	uc001ruh.1	+	12	2807	c.2547A>G	c.(2545-2547)gaA>gaG	p.E849E	KCNH3_uc010smj.1_Silent_p.E789E	NM_012284	NP_036416	Q9ULD8	KCNH3_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 3 (KCNH3), mRNA.	849					regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity	p.P848P(1)		NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						CTGGCCCGGAATGTAGCAGCA	0.617000														51			9		0	0	1	0	0
MCPH1	79648	broad.mit.edu	37	8	6312716	6312716	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:6312716C>A	uc003wqi.3	+	8	1954	c.1878C>A	c.(1876-1878)ggC>ggA	p.G626G		NM_024596	NP_078872	Q8NEM0	MCPH1_HUMAN	Homo sapiens microcephalin 1 (MCPH1), transcript variant 1, mRNA.	626						microtubule organizing center			AGPAT5/MCPH1(2)	central_nervous_system(1)|large_intestine(4)|skin(1)	6		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		CATGTGACGGCTTTAAGGACC	0.348000														97			13		0.0242445	0.0248014	1	1	0
VRTN	55237	broad.mit.edu	37	14	74823874	74823874	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:74823874C>T	uc021rwl.1	+	0	388	c.388C>T	c.(388-390)Ctg>Ttg	p.L130L	VRTN_uc001xpw.4_Silent_p.L130L	NM_018228	NP_060698	Q9H8Y1	VRTN_HUMAN	Homo sapiens vertebrae development homolog (pig) (VRTN), mRNA.	130					transposition, DNA-mediated		DNA binding|transposase activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						CAAAGTGATGCTGCAGGCCGT	0.632000														19			10		0	0	1	0	0
RNF165	494470	broad.mit.edu	37	18	44027530	44027530	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:44027530C>A	uc002lcb.1	+	3	541	c.490C>A	c.(490-492)Ctc>Atc	p.L164I	RNF165_uc002lby.1_Missense_Mutation_p.L97I|RNF165_uc010dnn.1_5'UTR	NM_152470	NP_689683	Q6ZSG1	RN165_HUMAN	Homo sapiens ring finger protein 165 (RNF165), mRNA.	164							zinc ion binding	p.D163N(1)		NS(1)|large_intestine(4)|lung(6)	11				READ - Rectum adenocarcinoma(1;0.0873)		CTGCAGGGATCTCAGTGTGGA	0.532000														65			33		6.97489e-18	8.91555e-18	1	1	0
SDK2	54549	broad.mit.edu	37	17	71384091	71384091	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:71384091G>A	uc010dfm.3	-	29	4278	c.4278C>T	c.(4276-4278)agC>agT	p.S1426S	SDK2_uc002jjt.4_Silent_p.S585S|SDK2_uc010dfn.2_Silent_p.S1105S	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN	Homo sapiens sidekick cell adhesion molecule 2 (SDK2), mRNA.	1426	Fibronectin type-III 9.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						AGAGCCCGTCGCTCCCTGGCT	0.687000														5			4		0	0	1	0	0
FLII	2314	broad.mit.edu	37	17	18156617	18156617	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:18156617G>A	uc002gsr.1	-	8	1062	c.1011C>T	c.(1009-1011)tgC>tgT	p.C337C	FLII_uc002gsq.1_Silent_p.C209C|FLII_uc010vxn.1_Silent_p.C306C|FLII_uc010vxo.1_Silent_p.C283C|FLII_uc002gss.1_Silent_p.C337C	NM_002018	NP_002009	Q13045	FLII_HUMAN	Homo sapiens flightless I homolog (Drosophila) (FLII), transcript variant 1, mRNA.	337	Interaction with LRRFIP1 and LRRFIP2.				multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	actin binding			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32	all_neural(463;0.228)					CCCAGCACCTGCAGAGACTTT	0.582000														17			7		0	0	1	0	0
GDPD5	81544	broad.mit.edu	37	11	75168791	75168791	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:75168791C>T	uc001owo.4	-	5	799	c.262G>A	c.(262-264)Gta>Ata	p.V88I	GDPD5_uc001owp.4_Missense_Mutation_p.V88I|GDPD5_uc009yuc.3_5'UTR|GDPD5_uc009yud.3_Intron|GDPD5_uc009yue.1_Missense_Mutation_p.V9I	NM_030792	NP_110419	Q8WTR4	GDPD5_HUMAN	Homo sapiens glycerophosphodiester phosphodiesterase domain containing 5 (GDPD5), mRNA.	88					glycerol metabolic process|lipid metabolic process|nervous system development	endomembrane system|growth cone|integral to membrane|perinuclear region of cytoplasm	glycerophosphodiester phosphodiesterase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|skin(2)	20						AGGATGGGTACGGGCCAGTCG	0.637000														34			17		0	0	1	0	0
MC2R	4158	broad.mit.edu	37	18	13884765	13884765	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:13884765G>A	uc002ksp.1	-	1	930	c.753C>T	c.(751-753)tgC>tgT	p.C251C	MC2R_uc021uhs.1_Silent_p.C251C	NM_000529	NP_000520	Q01718	ACTHR_HUMAN	Homo sapiens melanocortin 2 receptor (adrenocorticotropic hormone) (MC2R), mRNA.	251			C -> F (in GCCD1).		G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	corticotropin receptor activity|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	TGTAGCAGGCGCAGTAGGGGT	0.542000														40			18		0	0	1	0	0
TIE1	7075	broad.mit.edu	37	1	43770818	43770818	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:43770818G>A	uc001ciu.3	+	1	532	c.355G>A	c.(355-357)Gtg>Atg	p.V119M	TIE1_uc010okd.2_Missense_Mutation_p.V119M|TIE1_uc010oke.2_Missense_Mutation_p.V74M|TIE1_uc009vwq.3_Missense_Mutation_p.V119M|TIE1_uc010okf.1_5'UTR|TIE1_uc010okg.2_5'Flank|TIE1_uc010oka.2_Missense_Mutation_p.V119M|TIE1_uc010okb.2_Missense_Mutation_p.V119M|TIE1_uc010okc.2_Missense_Mutation_p.V119M	NM_005424	NP_005415	P35590	TIE1_HUMAN	Homo sapiens tyrosine kinase with immunoglobulin-like and EGF-like domains 1 (TIE1), transcript variant 1, mRNA.	119					mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CGTCATCTACGTGCACAACAG	0.697000														12			3		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21238060	21238060	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:21238060G>T	uc002red.3	-	22	3709	c.3581C>A	c.(3580-3582)cCt>cAt	p.P1194H		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	1194					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GAGATCCACAGGGAAATTGGA	0.408000														64			33		1.62565e-12	2.00707e-12	1	1	0
CRTAC1	55118	broad.mit.edu	37	10	99677334	99677334	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:99677334G>T	uc001kou.2	-	4	994	c.638C>A	c.(637-639)cCt>cAt	p.P213H	CRTAC1_uc001kov.3_Missense_Mutation_p.P213H|CRTAC1_uc001kot.2_Missense_Mutation_p.P3H	NM_018058	NP_060528	Q9NQ79	CRAC1_HUMAN	Homo sapiens cartilage acidic protein 1 (CRTAC1), transcript variant 1, mRNA.	213						proteinaceous extracellular matrix	calcium ion binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		ACTGGCCTCAGGGTCCATTTC	0.557000														30			4		0.00909568	0.00940365	1	1	0
EXOC8	149371	broad.mit.edu	37	1	231472057	231472057	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:231472057C>T	uc001huq.3	-	0	1522	c.1435G>A	c.(1435-1437)Gca>Aca	p.A479T		NM_175876	NP_787072	Q8IYI6	EXOC8_HUMAN	Homo sapiens exocyst complex component 8 (EXOC8), mRNA.	479					exocytosis|protein transport	growth cone|nucleus	protein binding			cervix(2)|endometrium(1)|large_intestine(2)|liver(1)|lung(5)|prostate(1)|skin(1)|stomach(1)	14	Breast(184;0.0871)	all_cancers(173;0.151)|Prostate(94;0.183)				TCAGTGCCTGCAAAATCGATC	0.478000														28			6		0	0	1	0	0
TTC7B	145567	broad.mit.edu	37	14	91155895	91155895	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:91155895G>A	uc001xyp.3	-	6	1061	c.939C>T	c.(937-939)taC>taT	p.Y313Y	TTC7B_uc010ats.3_Non-coding_Transcript	NM_001010854	NP_001010854	Q86TV6	TTC7B_HUMAN	Homo sapiens tetratricopeptide repeat domain 7B (TTC7B), mRNA.	313							binding			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	36		Melanoma(154;0.222)				TCTCTCCTGAGTAGACACGGG	0.483000														12			7		0	0	1	0	0
SLTM	79811	broad.mit.edu	37	15	59185096	59185096	+	Splice_Site	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:59185096C>A	uc002afp.3	-	14	1986	c.1898_splice	c.e14+1	p.R633_splice	SLTM_uc002afn.3_Splice_Site_p.R175_splice|SLTM_uc002afo.3_Splice_Site_p.R615_splice|SLTM_uc002afq.3_Splice_Site_p.R202_splice|SLTM_uc010bgd.3_Splice_Site_p.R202_splice	NM_024755	NP_079031	Q9NWH9	SLTM_HUMAN	Homo sapiens SAFB-like, transcription modulator (SLTM), transcript variant 1, mRNA.	633	Arg/Glu-rich.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CTCTTCCTACCTTCGAAGTTC	0.358000														84			9		0.00621372	0.00645399	1	1	0
SLC17A4	10050	broad.mit.edu	37	6	25777163	25777163	+	Missense_Mutation	SNP	T	C	C	rs150527531		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:25777163T>C	uc003nfe.3	+	9	1363	c.1244T>C	c.(1243-1245)gTt>gCt	p.V415A	SLC17A4_uc011djx.2_Missense_Mutation_p.V185A|SLC17A4_uc003nff.1_Missense_Mutation_p.V204A|SLC17A4_uc003nfg.3_Missense_Mutation_p.V352A|SLC17A4_uc010jqa.3_Intron	NM_005495	NP_005486	Q9Y2C5	S17A4_HUMAN	Homo sapiens solute carrier family 17 (sodium phosphate), member 4 (SLC17A4), mRNA.	415					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GGAGCCCTTGTTAACTTCTTG	0.498000														39			33		0	0	1	0	0
CYFIP1	23191	broad.mit.edu	37	15	22940758	22940758	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:22940758T>C	uc001yus.3	+	10	1127	c.1023T>C	c.(1021-1023)ccT>ccC	p.P341P	CYFIP1_uc001yut.3_Silent_p.P341P|CYFIP1_uc010aya.1_Silent_p.P369P	NM_014608	NP_055423	Q7L576	CYFP1_HUMAN	Homo sapiens cytoplasmic FMR1 interacting protein 1 (CYFIP1), transcript variant 1, mRNA.	341					axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	Rac GTPase binding|actin filament binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		GCAGCAGCCCTCAGTACAACA	0.642000														10			6		0	0	1	0	0
CHRM5	1133	broad.mit.edu	37	15	34355192	34355192	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:34355192C>T	uc001zhk.1	+	2	944	c.274C>T	c.(274-276)Ctc>Ttc	p.L92F	CHRM5_uc001zhl.1_Missense_Mutation_p.L92F|CHRM5_uc021sir.1_Missense_Mutation_p.L92F	NM_012125	NP_036257	P08912	ACM5_HUMAN	Homo sapiens cholinergic receptor, muscarinic 5 (CHRM5), mRNA.	92					cell proliferation|inhibition of adenylate cyclase activity by muscarinic acetylcholine receptor signaling pathway	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	20		all_lung(180;1.76e-08)		all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)	CACCTACATCCTCATGGGACG	0.517000														20			10		0	0	1	0	0
EML5	161436	broad.mit.edu	37	14	89083115	89083115	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:89083115G>T	uc021ryf.1	-	40	6000	c.5751C>A	c.(5749-5751)gaC>gaA	p.D1917E	EML5_uc001xxf.3_Missense_Mutation_p.D704E|EML5_uc021ryg.1_Missense_Mutation_p.D1917E|EML5_uc001xxd.3_Missense_Mutation_p.D82E|EML5_uc001xxe.3_Missense_Mutation_p.D266E	NM_183387	NP_899243	Q05BV3	EMAL5_HUMAN	Homo sapiens echinoderm microtubule associated protein like 5 (EML5), mRNA.	1909						cytoplasm|microtubule				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						CCATGCCAAAGTCATCTCCTG	0.373000														25			10		4.68919e-08	5.46558e-08	1	1	0
ABLIM3	22885	broad.mit.edu	37	5	148627447	148627447	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:148627447C>T	uc003lpy.2	+	17	1905	c.1654C>T	c.(1654-1656)Cgg>Tgg	p.R552W	ABLIM3_uc003lpz.1_Missense_Mutation_p.R552W|ABLIM3_uc003lqa.1_Missense_Mutation_p.R449W|ABLIM3_uc003lqb.3_Missense_Mutation_p.R441W|ABLIM3_uc003lqc.1_Missense_Mutation_p.R519W|ABLIM3_uc003lqd.1_Missense_Mutation_p.R457W|ABLIM3_uc003lqe.1_Missense_Mutation_p.R441W|ABLIM3_uc003lqf.3_Missense_Mutation_p.R441W	NM_014945	NP_055760	O94929	ABLM3_HUMAN	Homo sapiens actin binding LIM protein family, member 3 (ABLIM3), mRNA.	552					axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACCAGCAGCCGGGAAGCCCT	0.597000														20			12		0	0	1	0	0
ZNF217	7764	broad.mit.edu	37	20	52198934	52198934	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:52198934C>A	uc002xwq.4	-	0	774	c.432G>T	c.(430-432)gaG>gaT	p.E144D	ZNF217_uc010gij.1_Missense_Mutation_p.E136D	NM_006526	NP_006517	O75362	ZN217_HUMAN	Homo sapiens zinc finger protein 217 (ZNF217), mRNA.	144					negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			TCATGTGGATCTCAACATCAA	0.423000														186			20		3.5997e-14	4.50316e-14	1	1	0
UBFD1	56061	broad.mit.edu	37	16	23570943	23570943	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:23570943G>A	uc002dlv.3	+	2	712	c.510G>A	c.(508-510)gcG>gcA	p.A170A	EARS2_uc002dls.4_5'Flank|EARS2_uc002dlt.4_5'Flank|EARS2_uc002dlu.3_5'Flank	NM_019116	NP_061989	O14562	UBFD1_HUMAN	Homo sapiens ubiquitin family domain containing 1 (UBFD1), mRNA.	170										endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7				GBM - Glioblastoma multiforme(48;0.0331)		AAGATGCTGCGCAGCAGGATG	0.468000														31			4		0	0	1	0	0
ENDOU	8909	broad.mit.edu	37	12	48110685	48110685	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:48110685C>T	uc001rpu.2	-	4	698	c.539G>A	c.(538-540)cGc>cAc	p.R180H	ENDOU_uc010sll.2_5'UTR|ENDOU_uc001rpt.2_Missense_Mutation_p.R139H|ENDOU_uc010slm.2_Missense_Mutation_p.R117H|AL831948_uc001rpv.3_5'Flank	NM_001172439	NP_001165910	P21128	ENDOU_HUMAN	Homo sapiens endonuclease, polyU-specific (ENDOU), transcript variant 1, mRNA.	180					female pregnancy|immune response|proteolysis	cytoplasm|extracellular space|plasma membrane	RNA binding|endoribonuclease activity|growth factor activity|manganese ion binding|polysaccharide binding|scavenger receptor activity|serine-type peptidase activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(4)|lung(2)|ovary(3)|pancreas(1)|stomach(1)	14						CTTTGGGCAGCGATCCACTTG	0.483000											OREG0021752	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		25			88		0	0	1	0	0
FAM154B	283726	broad.mit.edu	37	15	82563946	82563946	+	Missense_Mutation	SNP	C	T	T	rs145916991		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:82563946C>T	uc002bgv.3	+	1	125	c.56C>T	c.(55-57)tCg>tTg	p.S19L	FAM154B_uc010unr.2_Missense_Mutation_p.S4L|FAM154B_uc010uns.2_Non-coding_Transcript	NM_001008226	NP_001008227	Q658L1	F154B_HUMAN	Homo sapiens family with sequence similarity 154, member B (FAM154B), mRNA.	19								p.S19L(2)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)	19						TATTTCAGGTCGGATTATTGT	0.323000														16			15		0	0	1	0	0
GRIK4	2900	broad.mit.edu	37	11	120776053	120776053	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:120776053C>T	uc001pxn.2	+	12	1614	c.1327C>T	c.(1327-1329)Cgc>Tgc	p.R443C	GRIK4_uc009zav.1_Missense_Mutation_p.R443C|GRIK4_uc009zaw.1_Missense_Mutation_p.R443C|GRIK4_uc009zax.1_Missense_Mutation_p.R443C	NM_014619	NP_055434	Q16099	GRIK4_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 4 (GRIK4), mRNA.	443					glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	p.R443H(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)	AGGCAATGACCGCTACGAGGG	0.542000														131			82		0	0	1	0	0
HIVEP3	59269	broad.mit.edu	37	1	41976860	41976860	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:41976860G>T	uc001cgz.4	-	8	7696	c.6483C>A	c.(6481-6483)ctC>ctA	p.L2161L	HIVEP3_uc001cha.4_Silent_p.L2160L|HIVEP3_uc001cgy.3_Non-coding_Transcript	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 3 (HIVEP3), transcript variant 1, mRNA.	2161					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GGAAGTCATGGAGGGCGGAGA	0.622000														42			5		0.0215528	0.0220531	1	1	0
CKAP2L	150468	broad.mit.edu	37	2	113514748	113514748	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:113514748G>T	uc002tie.2	-	3	279	c.200C>A	c.(199-201)cCt>cAt	p.P67H	CKAP2L_uc002tif.2_5'UTR|CKAP2L_uc010yxp.1_Intron|CKAP2L_uc010yxq.1_5'UTR	NM_152515	NP_689728	Q8IYA6	CKP2L_HUMAN	Homo sapiens cytoskeleton associated protein 2-like (CKAP2L), mRNA.	67						centrosome				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						AGGTTTGACAGGCAAAACAAC	0.383000														171			12		9.05144e-12	1.10939e-11	1	1	0
CIT	11113	broad.mit.edu	37	12	120173114	120173114	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:120173114C>T	uc001txj.2	-	24	3063	c.3007G>A	c.(3007-3009)Gct>Act	p.A1003T	CIT_uc001txh.2_Missense_Mutation_p.A495T|CIT_uc001txi.2_Missense_Mutation_p.A961T	NM_001206999	NP_001193928	O14578	CTRO_HUMAN	Homo sapiens citron (rho-interacting, serine/threonine kinase 21) (CIT), transcript variant 1, mRNA.	961					intracellular signal transduction		ATP binding|SH3 domain binding|metal ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	p.N1003K(1)		breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		TTGAGTTCAGCGTTGTCCTCG	0.463000														60			29		0	0	1	0	0
CDC25A	993	broad.mit.edu	37	3	48215880	48215880	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:48215880C>T	uc003csh.1	-	8	1188	c.824G>A	c.(823-825)aGa>aAa	p.R275K	CDC25A_uc003csi.1_Missense_Mutation_p.R235K|CDC25A_uc021wxk.1_Missense_Mutation_p.R234K	NM_001789	NP_001780	P30304	MPIP1_HUMAN	Homo sapiens cell division cycle 25 homolog A (S. pombe) (CDC25A), transcript variant 1, mRNA.	275					DNA replication|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint|cell division|cell proliferation|cellular response to UV|mitosis|regulation of cyclin-dependent protein kinase activity	cytosol|nucleoplasm	protein binding|protein tyrosine phosphatase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.000685)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		TCGTTCTGGTCTCTTCAACAC	0.507000														54			5		0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100676655	100676655	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100676655C>A	uc003uxp.1	+	2	2011	c.1958C>A	c.(1957-1959)cCt>cAt	p.P653H	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	653	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)					TCAACAACTCCTGTTGACTCC	0.478000														377			29		3.73148e-12	4.59117e-12	1	1	0
NF1	4763	broad.mit.edu	37	17	29554597	29554597	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:29554597T>C	uc002hgg.3	+	19	2765	c.2382T>C	c.(2380-2382)taT>taC	p.Y794Y	NF1_uc002hgh.3_Silent_p.Y794Y|NF1_uc010csn.2_Silent_p.Y654Y|NF1_uc002hgi.1_5'UTR	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	794					MAPKKK cascade|Ras protein signal transduction|actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	Ras GTPase activator activity|protein binding	p.0?(8)|p.?(4)|p.Y794*(2)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TCCTTAACTATCCAAAAGCCA	0.358000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				61			5		0	0	1	0	0
PLOD1	5351	broad.mit.edu	37	1	12017043	12017043	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:12017043T>C	uc010obb.2	+	7	967	c.854T>C	c.(853-855)gTc>gCc	p.V285A	PLOD1_uc001atm.3_Missense_Mutation_p.V238A	NM_000302	NP_000293	Q02809	PLOD1_HUMAN	Homo sapiens procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 (PLOD1), mRNA.	238					epidermis development|hydroxylysine biosynthetic process|protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein homodimerization activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	Minoxidil(DB00350)|Succinic acid(DB00139)|Vitamin C(DB00126)	ACCCTCCCGGTCCTGATCCAT	0.607000														67			7		0	0	1	0	0
ENPP2	5168	broad.mit.edu	37	8	120612990	120612990	+	Splice_Site	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:120612990C>T	uc003yos.2	-	11	986	c.900_splice	c.e11-1	p.R300_splice	ENPP2_uc010mdd.2_Splice_Site_p.R300_splice|ENPP2_uc003yot.2_Splice_Site_p.R300_splice	NM_006209	NP_006200	Q13822	ENPP2_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 2 (ENPP2), transcript variant 1, mRNA.	300					G-protein coupled receptor protein signaling pathway|cellular component movement|chemotaxis|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			AGACCGAAGGCCTATAAGAAA	0.378000														35			13		0	0	1	0	0
PTPRC	5788	broad.mit.edu	37	1	198676000	198676000	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:198676000G>A	uc001gur.1	+	8	997	c.817G>A	c.(817-819)Gaa>Aaa	p.E273K	PTPRC_uc001gut.1_Missense_Mutation_p.E112K|PTPRC_uc009wzf.1_Missense_Mutation_p.E161K|PTPRC_uc021pgy.1_Missense_Mutation_p.E227K|PTPRC_uc010ppg.1_Missense_Mutation_p.E209K	NM_002838	NP_002829	P08575	PTPRC_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, C (PTPRC), transcript variant 1, mRNA.	273					B cell proliferation|B cell receptor signaling pathway|T cell differentiation|T cell receptor signaling pathway|axon guidance|defense response to virus|immunoglobulin biosynthetic process|negative regulation of T cell mediated cytotoxicity|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|positive regulation of B cell proliferation|positive regulation of T cell proliferation|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of protein kinase activity|regulation of S phase|release of sequestered calcium ion into cytosol	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	p.E273*(2)		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						TAACCTTACAGAATGTAAAAA	0.318000														60			51		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13759067	13759067	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:13759067C>T	uc003jfd.2	-	60	10349	c.10307G>A	c.(10306-10308)cGc>cAc	p.R3436H	DNAH5_uc003jfc.2_5'UTR	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3436	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CAGGAGATGGCGATTCTCTTG	0.547000									Kartagener syndrome					69			41		0	0	1	0	0
TTLL5	23093	broad.mit.edu	37	14	76147930	76147930	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:76147930G>A	uc010ask.2	+	3	499	c.224G>A	c.(223-225)cGc>cAc	p.R75H	TTLL5_uc001xrw.2_Missense_Mutation_p.R75H|TTLL5_uc001xrx.3_Missense_Mutation_p.R75H|TTLL5_uc001xrv.3_Missense_Mutation_p.R75H	NM_015072	NP_055887	Q6EMB2	TTLL5_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 5 (TTLL5), mRNA.	75	TTL.				protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity			NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		ACGGACAGTCGCCTAGTACGC	0.358000														68			41		0	0	1	0	0
TMEM56	148534	broad.mit.edu	37	1	95609489	95609489	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:95609489T>C	uc021oqe.1	+	1	408	c.32T>C	c.(31-33)gTt>gCt	p.V11A	TMEM56_uc001drd.4_Missense_Mutation_p.V11A|TMEM56_uc001drb.3_Missense_Mutation_p.V11A	NM_001199679	NP_001186608	Q96MV1	TMM56_HUMAN	Homo sapiens transmembrane protein 56 (TMEM56), transcript variant 1, mRNA.	11						integral to membrane		p.S10R(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)|skin(1)|urinary_tract(1)	12		all_lung(203;0.0232)|Lung NSC(277;0.0739)		all cancers(265;0.133)		CTCATCAGTGTTACCTGTATC	0.333000														85			54		0	0	1	0	0
NBEAL2	23218	broad.mit.edu	37	3	47037063	47037063	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:47037063C>T	uc003cqp.3	+	12	2017	c.1838C>T	c.(1837-1839)cCt>cTt	p.P613L	NBEAL2_uc003cqq.1_Missense_Mutation_p.P579L|NBEAL2_uc010hjm.2_Missense_Mutation_p.P174L	NM_015175	NP_055990	Q6ZNJ1	NBEL2_HUMAN	Homo sapiens neurobeachin-like 2 (NBEAL2), mRNA.	613							binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		TGTCTGCACCCTATGGATACA	0.632000														29			20		0	0	1	0	0
COL9A1	1297	broad.mit.edu	37	6	71003927	71003927	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:71003927G>A	uc003pfg.4	-	4	798	c.639C>T	c.(637-639)gaC>gaT	p.D213D		NM_001851	NP_001842	P20849	CO9A1_HUMAN	Homo sapiens collagen, type IX, alpha 1 (COL9A1), transcript variant 1, mRNA.	213	Nonhelical region (NC4).|TSP N-terminal.				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding	p.I212T(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						AGCCATCAATGTCAATTGGGC	0.408000														109			55		0	0	1	0	0
GIT2	9815	broad.mit.edu	37	12	110429453	110429453	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:110429453C>T	uc001tps.2	-	1	330	c.165G>A	c.(163-165)ccG>ccA	p.P55P	GIT2_uc001tpq.2_Silent_p.P55P|GIT2_uc001tpv.2_Silent_p.P55P|GIT2_uc001tpu.2_Silent_p.P55P|GIT2_uc001tpt.2_Silent_p.P55P|GIT2_uc010sxu.1_Intron|GIT2_uc001tpw.3_Silent_p.P55P|GIT2_uc010sxv.1_Silent_p.P55P	NM_057169	NP_476510	Q14161	GIT2_HUMAN	Homo sapiens G protein-coupled receptor kinase interacting ArfGAP 2 (GIT2), transcript variant 1, mRNA.	55	Arf-GAP.				regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	nucleoplasm	ARF GTPase activator activity|protein binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|skin(4)	27						TTGGAGGCCACGGTGTGTGTT	0.438000														55			8		0	0	1	0	0
FAM71B	153745	broad.mit.edu	37	5	156589936	156589936	+	Missense_Mutation	SNP	C	T	T	rs144873852	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:156589936C>T	uc003lwn.3	-	1	1440	c.1340G>A	c.(1339-1341)cGc>cAc	p.R447H		NM_130899	NP_570969	Q8TC56	FA71B_HUMAN	Homo sapiens family with sequence similarity 71, member B (FAM71B), mRNA.	447						nucleus		p.R447G(1)		NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ACCTGCCTTGCGGTGATGAGA	0.498000														80			67		0	0	1	0	0
CUL9	23113	broad.mit.edu	37	6	43172550	43172550	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:43172550C>T	uc003ouk.3	+	21	4479	c.4404C>T	c.(4402-4404)agC>agT	p.S1468S	CUL9_uc003oul.3_Silent_p.S1468S|CUL9_uc010jyk.3_Silent_p.S620S	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN	Homo sapiens cullin 9 (CUL9), mRNA.	1468					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						CAAGCAGCAGCCTGAGGAACA	0.592000														85			45		0	0	1	0	0
BNC2	54796	broad.mit.edu	37	9	16727882	16727882	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:16727882G>A	uc003zml.3	-	2	383	c.243C>T	c.(241-243)ttC>ttT	p.F81F	BNC2_uc011lmw.2_Intron|BNC2_uc003zmm.3_Silent_p.F39F|BNC2_uc003zmq.1_Silent_p.F95F|BNC2_uc003zmr.1_Silent_p.F81F|BNC2_uc003zmp.1_Silent_p.F81F|BNC2_uc010mij.1_Silent_p.F3F|BNC2_uc003zmu.1_Non-coding_Transcript|BNC2_uc010mim.1_Non-coding_Transcript|BNC2_uc010min.1_Intron|BNC2_uc003zmo.1_Silent_p.F3F	NM_017637	NP_060107	Q6ZN30	BNC2_HUMAN	Homo sapiens basonuclin 2 (BNC2), mRNA.	81					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		TTCTGGTTCCGAACTGCATGG	0.468000														87			54		0	0	1	0	0
MYOF	26509	broad.mit.edu	37	10	95169331	95169331	+	Splice_Site	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:95169331T>C	uc001kin.3	-	6	723	c.600_splice	c.e6+1	p.Q200_splice	MYOF_uc001kio.3_Splice_Site_p.Q200_splice|MYOF_uc001kip.4_Splice_Site_p.Q200_splice|MYOF_uc009xuf.2_Splice_Site_p.Q182_splice	NM_013451	NP_038479	Q9NZM1	MYOF_HUMAN	Homo sapiens myoferlin (MYOF), transcript variant 1, mRNA.	200	C2 2.|Necessary for interaction with EHD2.				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						CGTTGCTACCTGGAAGTCCTG	0.502000														228			15		0	0	1	0	0
DUOXA2	405753	broad.mit.edu	37	15	45408871	45408871	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:45408871T>C	uc001zuo.3	+	3	779	c.498T>C	c.(496-498)ccT>ccC	p.P166P	DUOX2_uc001zun.3_5'Flank|DUOX2_uc010bea.3_5'Flank|DUOXA2_uc010beb.3_Non-coding_Transcript	NM_207581	NP_997464	Q1HG44	DOXA2_HUMAN	Homo sapiens dual oxidase maturation factor 2 (DUOXA2), mRNA.	166					protein transport	endoplasmic reticulum membrane|integral to membrane							all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;2.88e-18)|GBM - Glioblastoma multiforme(94;3.95e-07)|COAD - Colon adenocarcinoma(120;0.0652)|Colorectal(133;0.0659)		CGAGTAGCCCTTGCGGCCTGT	0.617000														40			6		0	0	1	0	0
NGFR	4804	broad.mit.edu	37	17	47583691	47583691	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:47583691C>T	uc002ioz.4	+	2	364	c.239C>T	c.(238-240)aCc>aTc	p.T80I		NM_002507	NP_002498	P08138	TNR16_HUMAN	Homo sapiens nerve growth factor receptor (NGFR), mRNA.	80					anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|membrane protein intracellular domain proteolysis|negative regulation of axonogenesis|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis	cell surface|cytosol|endosome|extracellular region|integral to plasma membrane|nucleoplasm				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)	17	all_cancers(4;1.45e-13)|Breast(4;6.34e-28)|all_epithelial(4;4.95e-17)					GTGAGCGCGACCGAGCCGTGC	0.682000														11			5		0	0	1	0	0
DALRD3	55152	broad.mit.edu	37	3	49054273	49054273	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49054273A>G	uc003cvk.1	-	5	955	c.935T>C	c.(934-936)cTc>cCc	p.L312P	DALRD3_uc003cvl.1_Missense_Mutation_p.L312P|DALRD3_uc003cvm.1_Missense_Mutation_p.L145P|DALRD3_uc010hko.1_Missense_Mutation_p.L145P|DALRD3_uc011bca.1_Missense_Mutation_p.L312P	NM_001009996	NP_060584	Q5D0E6	DALD3_HUMAN	Homo sapiens DALR anticodon binding domain containing 3 (DALRD3), transcript variant 1, mRNA.	312					arginyl-tRNA aminoacylation	cytoplasm	ATP binding|arginine-tRNA ligase activity			breast(2)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GCCACAGATGAGGTGCTTCTG	0.567000														51			5		0	0	1	0	0
FAM98A	25940	broad.mit.edu	37	2	33810031	33810031	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:33810031G>A	uc002rpa.1	-	7	1443	c.1369C>T	c.(1369-1371)Cgt>Tgt	p.R457C	FAM98A_uc010yne.1_Missense_Mutation_p.R262C|FAM98A_uc010ynd.1_Missense_Mutation_p.R288C|FAM98A_uc002roz.1_Missense_Mutation_p.R295C	NM_015475	NP_056290	Q8NCA5	FA98A_HUMAN	Homo sapiens family with sequence similarity 98, member A (FAM98A), mRNA.	458	Gly-rich.									NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(1)	24	all_hematologic(175;0.115)					ccaccaccacgatcaccaTGG	0.582000														48			27		0	0	1	0	0
CEP63	80254	broad.mit.edu	37	3	134278117	134278117	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:134278117G>A	uc003eqo.1	+	14	2248	c.1799G>A	c.(1798-1800)aGt>aAt	p.S600N	CEP63_uc003eql.1_Intron|CEP63_uc003eqm.3_Intron|CEP63_uc003eqn.1_Intron	NM_025180	NP_079456	Q96MT8	CEP63_HUMAN	Homo sapiens centrosomal protein 63kDa (CEP63), transcript variant 1, mRNA.	600					DNA damage checkpoint|G2/M transition of mitotic cell cycle|cell division|mitosis|signal transduction in response to DNA damage|spindle assembly	centrosome|cytosol|spindle pole	protein binding			kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						AGCCCCCTGAGTCCTCAAATC	0.453000														102			79		0	0	1	0	0
SCO1	6341	broad.mit.edu	37	17	10590075	10590075	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:10590075G>T	uc002gmr.4	-	4	801	c.740C>A	c.(739-741)cCt>cAt	p.P247H		NM_004589	NP_004580	O75880	SCO1_HUMAN	Homo sapiens SCO cytochrome oxidase deficient homolog 1 (yeast) (SCO1), nuclear gene encoding mitochondrial protein, mRNA.	247					cellular copper ion homeostasis|copper ion transport|generation of precursor metabolites and energy|respiratory chain complex IV assembly	mitochondrial inner membrane	copper ion binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|urinary_tract(1)	10						CTTGGGGCCAGGGCTGTAATA	0.443000														108			11		5.50884e-06	6.15991e-06	1	1	0
SLMO1	10650	broad.mit.edu	37	18	12429359	12429359	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:12429359C>A	uc002kra.3	+	5	556	c.476C>A	c.(475-477)gCt>gAt	p.A159D	SLMO1_uc010wzu.2_Missense_Mutation_p.A159D|SLMO1_uc010wzv.2_Missense_Mutation_p.A138D	NM_001142405	NP_006544	Q96N28	SLMO1_HUMAN	Homo sapiens slowmo homolog 1 (Drosophila) (SLMO1), transcript variant 1, mRNA.	159	PRELI/MSF1.									endometrium(1)	1						GGGTGGGCTGCTATCGAGTGG	0.527000														17			16		1.15919e-05	1.28923e-05	1	1	0
DOCK6	57572	broad.mit.edu	37	19	11338101	11338101	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:11338101C>T	uc002mqs.4	-	23	2908	c.2867G>A	c.(2866-2868)cGc>cAc	p.R956H	DOCK6_uc010xlq.2_Missense_Mutation_p.R295H	NM_020812	NP_065863	Q96HP0	DOCK6_HUMAN	Homo sapiens dedicator of cytokinesis 6 (DOCK6), mRNA.	956					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	p.R956H(2)		breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						GCGCAGCTTGCGGGGTGTGTC	0.632000														7			5		0	0	1	0	0
DIP2B	57609	broad.mit.edu	37	12	51126253	51126253	+	Silent	SNP	C	T	T	rs143164072		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:51126253C>T	uc001rwv.3	+	31	4071	c.3915C>T	c.(3913-3915)atC>atT	p.I1305I	DIP2B_uc009zlt.3_Silent_p.I735I	NM_173602	NP_775873	Q9P265	DIP2B_HUMAN	Homo sapiens DIP2 disco-interacting protein 2 homolog B (Drosophila) (DIP2B), mRNA.	1305						nucleus	catalytic activity|transcription factor binding	p.I1305I(2)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						TCAAAGACATCGGGCTGTCCC	0.542000														50			38		0	0	1	0	0
MRPS22	56945	broad.mit.edu	37	3	139069024	139069024	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:139069024C>T	uc003etb.3	+	3	579	c.508C>T	c.(508-510)Cgt>Tgt	p.R170C	MRPS22_uc003etc.3_Non-coding_Transcript	NM_020191	NP_064576	P82650	RT22_HUMAN	Homo sapiens mitochondrial ribosomal protein S22 (MRPS22), nuclear gene encoding mitochondrial protein, mRNA.	170			R -> H (in COXPD5).			mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	12						ATTTTAGGAGCGTTTTATTGT	0.398000														28			18		0	0	1	0	0
C1R	715	broad.mit.edu	37	12	7188195	7188195	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:7188195G>T	uc010sfy.2	-	8	1584	c.1525C>A	c.(1525-1527)Ctg>Atg	p.L509M		NM_001733	NP_001724	P00736	C1R_HUMAN	Homo sapiens complement component 1, r subcomponent (C1R), mRNA.	587	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity	p.Y509*(1)		endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|pancreas(1)	16					Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	ATCAAGCCCAGGTCGTAGAAG	0.567000														17			9		7.48243e-07	8.52591e-07	1	1	0
PDCD2	5134	broad.mit.edu	37	6	170889156	170889156	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:170889156T>C	uc003qxw.3	-	3	807	c.696A>G	c.(694-696)aaA>aaG	p.K232K	PDCD2_uc003qxv.3_Silent_p.K199K|PDCD2_uc003qxx.2_Silent_p.K232K	NM_002598	NP_002589	Q16342	PDCD2_HUMAN	Homo sapiens programmed cell death 2 (PDCD2), transcript variant 1, mRNA.	232					apoptosis	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(1)|lung(5)	9		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|BRCA - Breast invasive adenocarcinoma(81;4.82e-06)|GBM - Glioblastoma multiforme(31;0.142)		TGGATTCATGTTTTGCCATGG	0.393000														44			5		0	0	1	0	0
SATB1	6304	broad.mit.edu	37	3	18419766	18419766	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:18419766T>C	uc003cbh.3	-	8	3206	c.1471A>G	c.(1471-1473)Acc>Gcc	p.T491A	SATB1_uc003cbi.3_Missense_Mutation_p.T491A|SATB1_uc003cbj.3_Missense_Mutation_p.T491A	NM_002971	NP_002962	Q01826	SATB1_HUMAN	Homo sapiens SATB homeobox 1 (SATB1), transcript variant 1, mRNA.	491					cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	PML body|nuclear matrix	double-stranded DNA binding|sequence-specific DNA binding			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						ATGTTCATGGTATTGTTCTCT	0.388000														212			15		0	0	1	0	0
DDX42	11325	broad.mit.edu	37	17	61886959	61886959	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:61886959C>A	uc002jbu.3	+	11	1449	c.1192C>A	c.(1192-1194)Ctt>Att	p.L398I	DDX42_uc002jbv.3_Missense_Mutation_p.L398I|DDX42_uc002jbw.1_Missense_Mutation_p.L134I|DDX42_uc002jbx.3_Missense_Mutation_p.L134I|DDX42_uc002jby.3_5'Flank	NM_007372	NP_987095	Q86XP3	DDX42_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 42 (DDX42), transcript variant 1, mRNA.	398	Helicase ATP-binding.				protein localization|regulation of anti-apoptosis	Cajal body|cytoplasm|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding|protein binding	p.L398L(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						AGCTACCAATCTTCAAAGAGT	0.378000														90			7		0.00307968	0.00322291	1	1	0
MCM3AP	8888	broad.mit.edu	37	21	47663565	47663565	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:47663565G>A	uc002zir.1	-	23	5146	c.5110C>T	c.(5110-5112)Cct>Tct	p.P1704S	MCM3AP-AS1_uc002zim.2_Intron|MCM3AP-AS1_uc002zin.2_Intron|MCM3AP_uc002zio.1_Missense_Mutation_p.P199S|MCM3AP_uc002zip.1_Missense_Mutation_p.P445S|MCM3AP_uc002ziq.1_Missense_Mutation_p.P631S|MCM3AP-AS1_uc002zis.1_Intron	NM_003906	NP_003897	O60318	MCM3A_HUMAN	Homo sapiens minichromosome maintenance complex component 3 associated protein (MCM3AP), mRNA.	1704					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					TGGAGGACAGGCTGTGTCTGG	0.612000														26			22		0	0	1	0	0
TENC1	23371	broad.mit.edu	37	12	53457553	53457553	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:53457553C>T	uc001sbp.3	+	28	4252	c.4117C>T	c.(4117-4119)Ccg>Tcg	p.P1373S	TENC1_uc001sbl.3_Missense_Mutation_p.P1249S|TENC1_uc001sbn.3_Missense_Mutation_p.P1383S|TENC1_uc001sbq.3_Missense_Mutation_p.P771S|TENC1_uc001sbr.3_Non-coding_Transcript|TENC1_uc009zmr.3_Missense_Mutation_p.P866S	NM_170754	NP_938072	Q63HR2	TENC1_HUMAN	Homo sapiens tensin like C1 domain containing phosphatase (tensin 2) (TENC1), transcript variant 2, mRNA.	1373					intracellular signal transduction|negative regulation of cell proliferation	focal adhesion	metal ion binding|phosphoprotein phosphatase activity|protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						GGCCAAGAAGCCGGGAAGCCC	0.537000														102			76		0	0	1	0	0
HEPH	9843	broad.mit.edu	37	X	65428014	65428014	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:65428014C>T	uc011moz.2	+	14	2788	c.2651C>T	c.(2650-2652)gCc>gTc	p.A884V	HEPH_uc004dwn.3_Missense_Mutation_p.A833V|HEPH_uc004dwo.3_Missense_Mutation_p.A563V|HEPH_uc010nkr.3_Missense_Mutation_p.A641V|HEPH_uc011mpa.2_Missense_Mutation_p.A833V|HEPH_uc010nks.3_Missense_Mutation_p.A122V	NM_138737	NP_055614	Q9BQS7	HEPH_HUMAN	Homo sapiens hephaestin (HEPH), transcript variant 1, mRNA.	830	Plastocyanin-like 5.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity	p.A830V(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						AAGAATAATGCCAGCCGCCCC	0.413000														16			8		0	0	1	0	0
DICER1	23405	broad.mit.edu	37	14	95560464	95560464	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:95560464C>T	uc001ydw.2	-	24	5337	c.5125G>A	c.(5125-5127)Gat>Aat	p.D1709N	DICER1_uc010avh.1_Missense_Mutation_p.D607N|DICER1_uc021sbc.1_Missense_Mutation_p.D1709N|DICER1_uc001ydv.2_Missense_Mutation_p.D1699N|DICER1_uc001ydx.2_Missense_Mutation_p.D1709N	NM_030621	NP_803187	Q9UPY3	DICER_HUMAN	Homo sapiens dicer 1, ribonuclease type III (DICER1), transcript variant 2, mRNA.	1709	RNase III 2.				negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of Schwann cell differentiation|positive regulation of myelination|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	RNA-induced silencing complex|cytosol	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	p.D1709N(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		AAAATCGCATCTCCCAGGAAT	0.527000			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome					34			20		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82545693	82545693	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:82545693G>T	uc003uhx.2	-	6	11898	c.11609C>A	c.(11608-11610)cCa>cAa	p.P3870Q	PCLO_uc003uhv.2_Missense_Mutation_p.P3870Q|PCLO_uc010lec.3_Missense_Mutation_p.P835Q	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	3801	Gln-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTGGGTTTGTGGTGGTATAAA	0.478000														499			24		1.5548e-18	1.99422e-18	1	1	0
DMD	1756	broad.mit.edu	37	X	32382809	32382809	+	Nonsense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:32382809C>A	uc004dda.1	-	35	5288	c.5044G>T	c.(5044-5046)Gaa>Taa	p.E1682*	DMD_uc004dcw.2_Nonsense_Mutation_p.E338*|DMD_uc004dcx.2_Nonsense_Mutation_p.E341*|DMD_uc004dcz.2_Nonsense_Mutation_p.E1559*|DMD_uc004dcy.1_Nonsense_Mutation_p.E1678*|DMD_uc004ddb.1_Nonsense_Mutation_p.E1674*|DMD_uc010ngo.1_Intron|DMD_uc022buq.1_Non-coding_Transcript	NM_004006	NP_004001	P11532	DMD_HUMAN	Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA.	1682	Interaction with SYNM (By similarity).				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TCAAAAGTTTCCATGTGTTTC	0.348000														61			35		3.11337e-16	3.94066e-16	1	1	0
FAM171B	165215	broad.mit.edu	37	2	187626631	187626631	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:187626631C>T	uc002ups.3	+	7	1674	c.1562C>T	c.(1561-1563)gCg>gTg	p.A521V	FAM171B_uc002upr.1_Missense_Mutation_p.A488V|FAM171B_uc002upt.3_5'UTR	NM_177454	NP_803237	Q6P995	F171B_HUMAN	Homo sapiens family with sequence similarity 171, member B (FAM171B), mRNA.	521						integral to membrane	DNA binding			NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						AATGAGGAGGCGTATGGGCGT	0.413000														19			7		0	0	1	0	0
PHTF2	57157	broad.mit.edu	37	7	77569596	77569596	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:77569596G>A	uc003ugs.4	+	12	1843	c.1717G>A	c.(1717-1719)Gta>Ata	p.V573I	PHTF2_uc003ugp.3_Missense_Mutation_p.V535I|PHTF2_uc010ldv.3_Missense_Mutation_p.V535I|PHTF2_uc003ugq.4_Missense_Mutation_p.V535I|PHTF2_uc003ugt.4_Missense_Mutation_p.V539I|PHTF2_uc003ugu.4_Missense_Mutation_p.V535I|PHTF2_uc022agp.1_Missense_Mutation_p.V573I|PHTF2_uc010ldw.2_Missense_Mutation_p.V355I	NM_001127357	NP_001120829	Q8N3S3	PHTF2_HUMAN	Homo sapiens putative homeodomain transcription factor 2 (PHTF2), transcript variant 1, mRNA.	573					regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum|nucleus	DNA binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	19						TTTGCTCTGTGTAGCAGAAAG	0.308000														119			40		0	0	1	0	0
AKR1B10	57016	broad.mit.edu	37	7	134217814	134217814	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:134217814C>T	uc003vrr.3	+	3	730	c.410C>T	c.(409-411)aCg>aTg	p.T137M		NM_020299	NP_064695	O60218	AK1BA_HUMAN	Homo sapiens aldo-keto reductase family 1, member B10 (aldose reductase) (AKR1B10), mRNA.	137					cellular aldehyde metabolic process|digestion|steroid metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|protein binding			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(9)|skin(5)	20						GGAAAAGCAACGTTCTTGGAT	0.463000														135			45		0	0	1	0	0
BRCA2	675	broad.mit.edu	37	13	32912948	32912948	+	Missense_Mutation	SNP	G	A	A	rs80359450		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:32912948G>A	uc001uub.1	+	10	4683	c.4456G>A	c.(4456-4458)Gtt>Att	p.V1486I		NM_000059	NP_000050	P51587	BRCA2_HUMAN	Homo sapiens breast cancer 2, early onset (BRCA2), mRNA.	1486					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|gamma-tubulin binding|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		AACAGACATAGTTAAACACAA	0.358000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)				37			18		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	107083310	107083310	+	RNA	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:107083310G>A	uc021ser.1	-	130		c.5860C>T								Parts of antibodies, mostly variable regions.																		TCAGCTTCAGGGAGAACTGGT	0.532000														74			42		0	0	1	0	0
SYT5	6861	broad.mit.edu	37	19	55686268	55686268	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:55686268C>T	uc002qjm.1	-	5	1868	c.808G>A	c.(808-810)Gac>Aac	p.D270N	SYT5_uc002qjp.2_Missense_Mutation_p.D266N|SYT5_uc002qjn.1_Missense_Mutation_p.D270N|SYT5_uc002qjo.1_Missense_Mutation_p.D269N	NM_003180	NP_003171	O00445	SYT5_HUMAN	Homo sapiens synaptotagmin V (SYT5), mRNA.	270	C2 2.				energy reserve metabolic process|regulation of insulin secretion|synaptic transmission	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane	metal ion binding|transporter activity			kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		CCTCCTACGTCCATCTTCTTC	0.592000														41			6		0	0	1	0	0
TRIM32	22954	broad.mit.edu	37	9	119461189	119461189	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:119461189C>T	uc022bmo.1	+	0	1168	c.1168C>T	c.(1168-1170)Cgt>Tgt	p.R390C	ASTN2_uc022bml.1_Intron|ASTN2_uc022bmm.1_Intron|ASTN2_uc004bjt.2_Intron|TRIM32_uc004bjw.2_Missense_Mutation_p.R390C|TRIM32_uc004bjx.2_Missense_Mutation_p.R390C	NM_012210	NP_036342	Q13049	TRI32_HUMAN	Homo sapiens tripartite motif containing 32 (TRIM32), transcript variant 1, mRNA.	390					fat cell differentiation|innate immune response|negative regulation of apoptosis|negative regulation of fibroblast proliferation|positive regulation of NF-kappaB transcription factor activity|positive regulation of cell cycle|positive regulation of cell growth|positive regulation of cell migration|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of protein catabolic process|positive regulation of proteolysis|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV|response to tumor necrosis factor	nucleus	RNA binding|Tat protein binding|myosin binding|protein self-association|transcription coactivator activity|translation initiation factor binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	26						AGTCGCTGACCGTGGTAACTA	0.493000														90			5		0	0	1	0	0
PHRF1	57661	broad.mit.edu	37	11	592614	592614	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:592614A>G	uc001lqe.3	+	5	691	c.560A>G	c.(559-561)gAg>gGg	p.E187G	PHRF1_uc010qwc.2_Missense_Mutation_p.E187G|PHRF1_uc010qwd.2_Missense_Mutation_p.E186G|PHRF1_uc010qwe.2_Missense_Mutation_p.E183G|PHRF1_uc009ybz.1_5'UTR	NM_020901	NP_065952	Q9P1Y6	PHRF1_HUMAN	Homo sapiens PHD and ring finger domains 1 (PHRF1), mRNA.	187							RNA polymerase binding|zinc ion binding			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						ACCTTCTGTGAGGTGTGCGGC	0.627000														135			7		0	0	1	0	0
MATK	4145	broad.mit.edu	37	19	3779617	3779617	+	Splice_Site	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:3779617T>C	uc002lyt.3	-	10	1243	c.843_splice	c.e10-1	p.T281_splice	MATK_uc002lyv.3_Splice_Site_p.T282_splice|MATK_uc002lyu.3_Splice_Site_p.T240_splice|MATK_uc010dtq.3_Splice_Site_p.T281_splice|JA611290_uc021umx.1_5'Flank	NM_139355	NP_647611	P42679	MATK_HUMAN	Homo sapiens megakaryocyte-associated tyrosine kinase (MATK), transcript variant 1, mRNA.	281	Protein kinase.				cell proliferation|mesoderm development|positive regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	26		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		TGCATCTTCCTGGGGGCGGTG	0.692000														8			5		0	0	1	0	0
RALGDS	5900	broad.mit.edu	37	9	135974142	135974142	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:135974142C>T	uc004cco.3	-	17	2597	c.2577G>A	c.(2575-2577)aaG>aaA	p.K859K	RALGDS_uc004ccn.3_Silent_p.K47K|RALGDS_uc004ccp.3_Non-coding_Transcript|RALGDS_uc004ccq.3_Silent_p.K847K|RALGDS_uc004ccr.3_Silent_p.K858K|RALGDS_uc011mcv.2_Silent_p.K830K|RALGDS_uc004ccs.3_Silent_p.K804K|RALGDS_uc011mcw.2_Silent_p.K930K|RALGDS_uc004cct.1_Non-coding_Transcript	NM_006266	NP_006257	Q12967	GNDS_HUMAN	Homo sapiens ral guanine nucleotide dissociation stimulator (RALGDS), transcript variant 1, mRNA.	859	Ras-associating.				Ras protein signal transduction|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		TTTCAGGGATCTTCAGCTCTG	0.562000			T	CIITA	"""PMBL, Hodgkin Lymphona, """									36			12		0	0	1	0	0
GPR139	124274	broad.mit.edu	37	16	20043467	20043467	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:20043467G>T	uc002dgu.1	-	1	814	c.652C>A	c.(652-654)Ctc>Atc	p.L218I	GPR139_uc010vaw.1_Missense_Mutation_p.L125I	NM_001002911	NP_001002911	Q6DWJ6	GP139_HUMAN	Homo sapiens G protein-coupled receptor 139 (GPR139), mRNA.	218						integral to membrane|plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						TAGCCACGGAGACGAAAATTG	0.512000														40			23		6.32553e-13	7.83728e-13	1	1	0
WNK2	65268	broad.mit.edu	37	9	96051595	96051595	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:96051595G>A	uc004ati.1	+	19	4670	c.4670G>A	c.(4669-4671)gGg>gAg	p.G1557E	WNK2_uc011lud.1_Missense_Mutation_p.G1520E|WNK2_uc004atj.3_Missense_Mutation_p.G1520E|WNK2_uc004atk.3_Missense_Mutation_p.G1157E|WNK2_uc004atl.1_Missense_Mutation_p.G115E	NM_006648	NP_006639	Q9Y3S1	WNK2_HUMAN	Homo sapiens WNK lysine deficient protein kinase 2 (WNK2), mRNA.	1557					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						CCACCCCTGGGGCCCACCGTC	0.721000														3			4		0	0	1	0	0
DPM1	8813	broad.mit.edu	37	20	49551717	49551717	+	Missense_Mutation	SNP	T	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:49551717T>A	uc002xvw.1	-	8	735	c.735A>T	c.(733-735)gaA>gaT	p.E245D	DPM1_uc002xvx.1_Non-coding_Transcript	NM_003859	NP_003850	O60762	DPM1_HUMAN	Homo sapiens dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit (DPM1), mRNA.	245					C-terminal protein lipidation|GPI anchor biosynthetic process|dolichol metabolic process|dolichol-linked oligosaccharide biosynthetic process|protein N-linked glycosylation via asparagine|protein O-linked mannosylation	dolichol-phosphate-mannose synthase complex|endoplasmic reticulum membrane|membrane fraction	dolichyl-phosphate beta-D-mannosyltransferase activity|dolichyl-phosphate-mannose-protein mannosyltransferase activity|protein binding			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	7						AAGATACTATTTCATTTCCTC	0.284000														85			6		0	0	1	0	0
CCT5	22948	broad.mit.edu	37	5	10262654	10262654	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:10262654G>A	uc003jeq.3	+	8	1412	c.1241G>A	c.(1240-1242)cGc>cAc	p.R414H	CCT5_uc011cmr.2_Missense_Mutation_p.R359H|CCT5_uc011cms.2_Missense_Mutation_p.R376H|CCT5_uc011cmt.2_Missense_Mutation_p.R321H	NM_012073	NP_036205	P48643	TCPE_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 5 (epsilon) (CCT5), mRNA.	414					'de novo' posttranslational protein folding|response to virus	microtubule organizing center|nucleolus	ATP binding|unfolded protein binding	p.I413I(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(2)	26						AACCTCATCCGCGATAATCGT	0.493000														45			27		0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21508203	21508203	+	Splice_Site	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:21508203A>G	uc002kuq.3	+	63	8381	c.8295_splice	c.e63+1	p.K2765_splice	LAMA3_uc002kur.3_Splice_Site_p.K2709_splice|LAMA3_uc002kus.4_Splice_Site_p.K1156_splice|LAMA3_uc002kut.4_Splice_Site_p.K1100_splice	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA.	2765					cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GAAGACTGGAAGGTAAGTGAA	0.453000														24			3		0	0	1	0	0
TFAP2B	7021	broad.mit.edu	37	6	50810927	50810927	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:50810927C>T	uc003pag.3	+	6	1371	c.1205C>T	c.(1204-1206)aCg>aTg	p.T402M		NM_003221	NP_003212	Q92481	AP2B_HUMAN	Homo sapiens transcription factor AP-2 beta (activating enhancer binding protein 2 beta) (TFAP2B), mRNA.	402				QLCKEFTDLLAQDRTPIGNSRPSPILEPGIQSCLTHFSLIT HGFGAPAICAALTALQNYLTEALKGMDKMFLNNTTTNRHTS GEGPGSKTGDKEEKHRK -> GNFVKNLRIYWRRTGHR (in Ref. 1; CAA71047).	nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					AGCCTCATCACGCACGGCTTC	0.632000														56			35		0	0	1	0	0
SLC29A4	222962	broad.mit.edu	37	7	5327557	5327557	+	Missense_Mutation	SNP	C	T	T	rs137876561	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:5327557C>T	uc003sod.3	+	1	271	c.110C>T	c.(109-111)gCg>gTg	p.A37V	SLC29A4_uc011jwg.1_Non-coding_Transcript|SLC29A4_uc003soc.3_Missense_Mutation_p.A37V|SLC29A4_uc003soe.3_Missense_Mutation_p.A37V	NM_153247	NP_694979	Q7RTT9	S29A4_HUMAN	Homo sapiens solute carrier family 29 (nucleoside transporters), member 4 (SLC29A4), transcript variant 2, mRNA.	37					nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|integral to membrane	nucleoside transmembrane transporter activity			breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)		GAGGAGGCGGCGGAGGCGGCT	0.667000														27			5		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140864800	140864800	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140864800C>T	uc003lky.2	+	0	60	c.60C>T	c.(58-60)ctC>ctT	p.L20L	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lkq.2_Intron|PCDHGC5_uc003lkp.2_Intron|PCDHGC5_uc003lkt.2_Intron|PCDHGC5_uc003lkv.2_Intron|PCDHGC5_uc003lkw.2_Intron|PCDHGC5_uc011dbb.2_Silent_p.L20L	NM_018928	NP_061751	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily C, 4 (PCDHGC4), transcript variant 1, mRNA.	0					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)			TTTTGTTCCTCTTTTACCACC	0.552000														34			18		0	0	1	0	0
SNX19	399979	broad.mit.edu	37	11	130784436	130784436	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:130784436C>A	uc001qgk.4	-	0	1947	c.1399G>T	c.(1399-1401)Gct>Tct	p.A467S	SNX19_uc010sce.2_Intron|SNX19_uc010scf.2_Intron|SNX19_uc010scg.2_Intron|SNX19_uc001qgl.3_Missense_Mutation_p.A467S|SNX19_uc009zcx.1_Intron	NM_014758	NP_055573	Q92543	SNX19_HUMAN	Homo sapiens sorting nexin 19 (SNX19), mRNA.	467					cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		TCCAGCAAAGCTGTAACAGAG	0.537000														53			26		1.55811e-20	2.01228e-20	1	1	0
CENPJ	55835	broad.mit.edu	37	13	25480611	25480611	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:25480611C>A	uc001upt.4	-	6	1818	c.1565G>T	c.(1564-1566)gGt>gTt	p.G522V	CENPJ_uc010tdf.2_Non-coding_Transcript|CENPJ_uc010aaf.3_Non-coding_Transcript|CENPJ_uc001upu.3_5'Flank	NM_018451	NP_060921	Q9HC77	CENPJ_HUMAN	Homo sapiens centromere protein J (CENPJ), mRNA.	522					G2/M transition of mitotic cell cycle|cell division|centriole replication|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		TCTGTCTTTACCTTGTGTCTT	0.443000														50			37		3.33393e-15	4.19542e-15	1	1	0
ATP8B4	79895	broad.mit.edu	37	15	50215583	50215583	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:50215583T>G	uc001zxu.3	-	16	1893	c.1751A>C	c.(1750-1752)cAc>cCc	p.H584P	ATP8B4_uc010ber.3_Missense_Mutation_p.H457P|ATP8B4_uc010ufd.2_Missense_Mutation_p.H394P|ATP8B4_uc010ufe.2_Non-coding_Transcript	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN	Homo sapiens ATPase, class I, type 8B, member 4 (ATP8B4), mRNA.	584					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		TACACTGAGGTGGTCTGACGT	0.403000														32			16		0	0	1	0	0
AGBL5	60509	broad.mit.edu	37	2	27293046	27293046	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:27293046A>C	uc002rie.3	+	14	2793	c.2576A>C	c.(2575-2577)aAt>aCt	p.N859T	AGBL5_uc002rif.3_Non-coding_Transcript	NM_021831	NP_068603	Q8NDL9	CBPC5_HUMAN	Homo sapiens ATP/GTP binding protein-like 5 (AGBL5), transcript variant 1, mRNA.	859					protein branching point deglutamylation|proteolysis	cytosol|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCATCCTGGAATTGTTACAGC	0.547000														38			30		0	0	1	0	0
SCN8A	6334	broad.mit.edu	37	12	52100384	52100384	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:52100384A>G	uc001ryw.3	+	10	1698	c.1520A>G	c.(1519-1521)gAg>gGg	p.E507G	SCN8A_uc010snl.2_Missense_Mutation_p.E507G|SCN8A_uc001ryx.1_Missense_Mutation_p.E372G|SCN8A_uc001ryz.1_Missense_Mutation_p.E372G|SCN8A_uc001ryy.2_Missense_Mutation_p.E372G	NM_014191	NP_055006	Q9UQD0	SCN8A_HUMAN	Homo sapiens sodium channel, voltage gated, type VIII, alpha subunit (SCN8A), transcript variant 1, mRNA.	507					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	TCTGAAGGAGAGGAGAAAGGG	0.468000														7			4		0	0	1	0	0
CBFA2T3	863	broad.mit.edu	37	16	88967912	88967912	+	Splice_Site	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:88967912G>A	uc002fmm.2	-	2	593	c.304_splice	c.e2+1	p.H102_splice	CBFA2T3_uc002fml.2_Splice_Site_p.L41_splice|CBFA2T3_uc010cif.1_Splice_Site_p.H41_splice|CBFA2T3_uc002fmn.2_Splice_Site_p.L102_splice	NM_005187	NP_005178	O75081	MTG16_HUMAN	Homo sapiens core-binding factor, runt domain, alpha subunit 2; translocated to, 3 (CBFA2T3), transcript variant 1, mRNA.	102	Mediates interaction with PDE7A (in isoform 2).|Mediates localization to the nucleus (By similarity).|Required for nucleolar targeting (in isoform 1).				cell proliferation|granulocyte differentiation	Golgi membrane|nucleolus|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0275)		GGCTACTTACGTGTGTGTGGC	0.682000			T	RUNX1	AML									17			17		0	0	1	0	0
RASGRF2	5924	broad.mit.edu	37	5	80382721	80382721	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:80382721G>A	uc003kha.2	+	8	1389	c.1339G>A	c.(1339-1341)Gtg>Atg	p.V447M	RASGRF2_uc011ctn.2_Non-coding_Transcript|RASGRF2_uc003khb.1_Missense_Mutation_p.V275M	NM_006909	NP_008840	O14827	RGRF2_HUMAN	Homo sapiens Ras protein-specific guanine nucleotide-releasing factor 2 (RASGRF2), mRNA.	447					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	Rho guanyl-nucleotide exchange factor activity|protein binding			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		AAGAATGATCGTGGAGGGCTG	0.507000														43			5		0	0	1	0	0
FOCAD	54914	broad.mit.edu	37	9	20990276	20990276	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:20990276C>A	uc003zog.1	+	43	5522	c.5159C>A	c.(5158-5160)cCa>cAa	p.P1720Q	FOCAD_uc003zoh.1_Missense_Mutation_p.P1156Q	NM_017794	NP_060264	Q5VW36	K1797_HUMAN	Homo sapiens KIAA1797 (KIAA1797), mRNA.	1720						integral to membrane	binding										GGCAGGAGTCCAATGCACAGG	0.587000														25			4		0.00909568	0.00940365	1	1	0
DMD	1756	broad.mit.edu	37	X	32429869	32429869	+	Splice_Site	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:32429869C>A	uc004dda.1	-	30	4477	c.4233_splice	c.e30+1	p.Q1411_splice	DMD_uc004dcw.2_Splice_Site_p.Q67_splice|DMD_uc004dcx.2_Splice_Site_p.Q70_splice|DMD_uc004dcz.2_Splice_Site_p.Q1288_splice|DMD_uc004dcy.1_Splice_Site_p.Q1407_splice|DMD_uc004ddb.1_Splice_Site_p.Q1403_splice|DMD_uc010ngo.1_Intron	NM_004006	NP_004001	P11532	DMD_HUMAN	Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA.	1411					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				ATGTACTTGCCTGGGCTTCCT	0.398000														59			4		0.000602214	0.000641151	1	1	0
MICAL2	9645	broad.mit.edu	37	11	12278494	12278494	+	Missense_Mutation	SNP	G	A	A	rs61729668	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:12278494G>A	uc001mjz.3	+	23	3406	c.3118G>A	c.(3118-3120)Gcc>Acc	p.A1040T	MICAL2_uc010rch.1_Missense_Mutation_p.A850T|MICAL2_uc001mka.3_Missense_Mutation_p.A1040T|MICAL2_uc010rci.2_Missense_Mutation_p.A1019T|MICAL2_uc001mkb.3_Missense_Mutation_p.A814T|MICAL2_uc001mkc.3_Missense_Mutation_p.A793T|MICAL2_uc001mkd.3_Missense_Mutation_p.A622T|MICAL2_uc010rcj.2_Missense_Mutation_p.A252T|MICAL2_uc001mkf.3_Non-coding_Transcript	NM_014632	NP_055447	O94851	MICA2_HUMAN	Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 2 (MICAL2), mRNA.	1040	LIM zinc-binding.					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		GCGCCTGGCCGCCTACACCTT	0.632000														29			18		0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238289974	238289974	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:238289974C>T	uc002vwl.2	-	4	1766	c.1481G>A	c.(1480-1482)aGg>aAg	p.R494K	COL6A3_uc002vwo.2_Missense_Mutation_p.R288K|COL6A3_uc010znj.1_Missense_Mutation_p.R87K|COL6A3_uc002vwq.3_Missense_Mutation_p.R288K|COL6A3_uc002vwr.3_Missense_Mutation_p.R87K|COL6A3_uc010znk.1_Missense_Mutation_p.R494K	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	494	Nonhelical region.|VWFA 3.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		AAATTCAGGCCTCACAGTGTC	0.507000														92			55		0	0	1	0	0
SLC39A3	29985	broad.mit.edu	37	19	2732805	2732805	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:2732805G>T	uc010xgy.1	-	2	1143	c.889C>A	c.(889-891)Ctc>Atc	p.L297I	SLC39A3_uc002lwg.3_Missense_Mutation_p.L297I	NM_144564	NP_653165	Q9BRY0	S39A3_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 3 (SLC39A3), transcript variant 1, mRNA.	297						integral to membrane|plasma membrane	zinc ion transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	10		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACCAGGAAGAGGACCTTGAGC	0.667000														37			22		2.39556e-15	3.01546e-15	1	1	0
GPRASP1	9737	broad.mit.edu	37	X	101911928	101911928	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:101911928G>A	uc010nod.3	+	2	3729	c.3087G>A	c.(3085-3087)acG>acA	p.T1029T	ARMCX5-GPRASP2_uc022cay.1_Intron|GPRASP1_uc022cbc.1_Silent_p.T1029T|GPRASP1_uc004ejj.4_Silent_p.T1029T|GPRASP1_uc004eji.4_Silent_p.T1029T|GPRASP1_uc022cbd.1_Silent_p.T1029T	NM_001099411	NP_055525	Q5JY77	GASP1_HUMAN	Homo sapiens G protein-coupled receptor associated sorting protein 1 (GPRASP1), transcript variant 3, mRNA.	1029	OPRD1-binding.					cytoplasm	protein binding	p.S1028P(1)		NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						GCAGGTCCACGTGTTCAGTTG	0.557000														105			57		0	0	1	0	0
IL12RB2	3595	broad.mit.edu	37	1	67786068	67786068	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:67786068G>A	uc001ddu.3	+	1	657	c.17G>A	c.(16-18)aGa>aAa	p.R6K	IL12RB2_uc010oqi.2_Missense_Mutation_p.R6K|IL12RB2_uc010oqj.2_Missense_Mutation_p.R6K|IL12RB2_uc010oqk.2_Non-coding_Transcript|IL12RB2_uc010oql.2_Missense_Mutation_p.R6K|IL12RB2_uc010oqm.2_Missense_Mutation_p.R6K|IL12RB2_uc010oqn.2_Non-coding_Transcript	NM_001559	NP_001550	Q99665	I12R2_HUMAN	Homo sapiens interleukin 12 receptor, beta 2 (IL12RB2), mRNA.	6					positive regulation of cell proliferation|positive regulation of interferon-gamma production	integral to plasma membrane	cytokine receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						CATACTTTTAGAGGATGCTCA	0.328000														67			45		0	0	1	0	0
CD5	921	broad.mit.edu	37	11	60889372	60889372	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:60889372C>T	uc009ynk.3	+	5	1198	c.1095C>T	c.(1093-1095)gtC>gtT	p.V365V		NM_014207	NP_055022	P06127	CD5_HUMAN	Homo sapiens CD5 molecule (CD5), mRNA.	365	SRCR 3.				cell proliferation|cell recognition	integral to plasma membrane	scavenger receptor activity			central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05)		BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528)		AGGTGTTTGTCACATGTGAGT	0.552000														21			13		0	0	1	0	0
SLC38A3	10991	broad.mit.edu	37	3	50253068	50253068	+	Splice_Site	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:50253068G>T	uc003cyn.4	+	6	604	c.463_splice	c.e6+1	p.A155_splice	SLC38A3_uc011bdl.2_Splice_Site_p.A131_splice|SLC38A3_uc011bdm.2_Splice_Site_p.A87_splice	NM_006841	NP_006832	Q99624	S38A3_HUMAN	Homo sapiens solute carrier family 38, member 3 (SLC38A3), mRNA.	156					cellular nitrogen compound metabolic process|sodium ion transport	integral to plasma membrane	L-alanine transmembrane transporter activity|L-asparagine transmembrane transporter activity|L-glutamine transmembrane transporter activity|L-histidine transmembrane transporter activity|antiporter activity|symporter activity			breast(1)|cervix(1)|endometrium(1)|lung(3)	6				BRCA - Breast invasive adenocarcinoma(193;0.000275)|KIRC - Kidney renal clear cell carcinoma(197;0.00548)|Kidney(197;0.00615)	L-Asparagine(DB00174)|L-Glutamine(DB00130)|L-Histidine(DB00117)	GAACATCGGAGGTAAGAGCAG	0.657000														24			10		1.58986e-06	1.80238e-06	1	1	0
ABHD2	11057	broad.mit.edu	37	15	89659564	89659564	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:89659564T>C	uc002bnj.2	+	6	924	c.6T>C	c.(4-6)aaT>aaC	p.N2N	ABHD2_uc010ups.1_Non-coding_Transcript|ABHD2_uc002bnk.2_Silent_p.N2N	NM_007011	NP_690888	P08910	ABHD2_HUMAN	Homo sapiens abhydrolase domain containing 2 (ABHD2), transcript variant 1, mRNA.	2						integral to membrane	carboxylesterase activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|soft_tissue(1)	23	Lung NSC(78;0.0472)|all_lung(78;0.089)					TCAAGATGAATGCCATGCTGG	0.562000														41			16		0	0	1	0	0
FAM60A	58516	broad.mit.edu	37	12	31446798	31446798	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:31446798G>T	uc001rkc.3	-	2	613	c.371C>A	c.(370-372)tCt>tAt	p.S124Y	FAM60A_uc010sjz.2_Missense_Mutation_p.S99Y|FAM60A_uc001rkd.3_Missense_Mutation_p.S99Y|FAM60A_uc010ska.2_Missense_Mutation_p.S99Y|FAM60A_uc001rke.3_Missense_Mutation_p.S99Y|FAM60A_uc010skb.2_Intron	NM_021238	NP_067061	Q9NP50	FA60A_HUMAN	Homo sapiens family with sequence similarity 60, member A (FAM60A), transcript variant 2, mRNA.	99										large_intestine(1)|lung(2)	3	all_cancers(9;5.22e-13)|all_epithelial(9;4e-13)|all_lung(12;1.2e-11)|Lung NSC(12;2.17e-09)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0207)|Lung SC(12;0.0592)|Esophageal squamous(101;0.162)					CCTGTTCCCAGATAGAGTTTT	0.323000														39			11		1.58986e-06	1.80238e-06	1	1	0
SLC9A4	389015	broad.mit.edu	37	2	103119909	103119909	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:103119909C>T	uc002tbz.4	+	2	1180	c.723C>T	c.(721-723)gtC>gtT	p.V241V		NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 4 (SLC9A4), mRNA.	241					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						TTGCCTAGGTCTTATACAATA	0.358000														4			5		0	0	1	0	0
GOLGB1	2804	broad.mit.edu	37	3	121410038	121410038	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:121410038G>T	uc010hrc.3	-	13	8299	c.8173C>A	c.(8173-8175)Ctc>Atc	p.L2725I	GOLGB1_uc003eei.4_Missense_Mutation_p.L2720I|GOLGB1_uc003eej.4_Missense_Mutation_p.L2686I|GOLGB1_uc021xcy.1_Missense_Mutation_p.L2645I	NM_004487	NP_004478	Q14789	GOGB1_HUMAN	Homo sapiens golgin B1 (GOLGB1), mRNA.	2720					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		GTGACCATGAGTAATTTCTGT	0.403000														285			24		2.27525e-19	2.92791e-19	1	1	0
GAB3	139716	broad.mit.edu	37	X	153940612	153940612	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153940612G>A	uc004fmk.1	-	3	1009	c.961C>T	c.(961-963)Cgg>Tgg	p.R321W	GAB3_uc004fmj.1_Missense_Mutation_p.R320W|GAB3_uc010nve.1_Missense_Mutation_p.R321W|GAB3_uc004fml.1_Intron	NM_001081573	NP_001075042	Q8WWW8	GAB3_HUMAN	Homo sapiens GRB2-associated binding protein 3 (GAB3), transcript variant 1, mRNA.	320										NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)	25	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TCTTGGCGCCGTTCAGACAGA	0.493000														85			53		0	0	1	0	0
AARS	16	broad.mit.edu	37	16	70292106	70292106	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:70292106C>A	uc002eyn.1	-	14	2117	c.2007G>T	c.(2005-2007)caG>caT	p.Q669H	AARS_uc010vlu.1_Missense_Mutation_p.Q499H	NM_001605	NP_001596	P49588	SYAC_HUMAN	Homo sapiens alanyl-tRNA synthetase (AARS), mRNA.	669					alanyl-tRNA aminoacylation|tRNA processing	cytosol|soluble fraction	ATP binding|alanine-tRNA ligase activity|metal ion binding|tRNA binding			breast(3)|cervix(2)|endometrium(5)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0365)		BRCA - Breast invasive adenocarcinoma(221;0.161)	L-Alanine(DB00160)	GGGGGCAATCCTGGGTATAGA	0.597000														2			6		0.217242	0.21859	1	1	0
ACAN	176	broad.mit.edu	37	15	89402488	89402488	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:89402488G>T	uc010upo.1	+	11	7046	c.6672G>T	c.(6670-6672)caG>caT	p.Q2224H	ACAN_uc010upp.1_Missense_Mutation_p.Q2224H|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	2224					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			AGTGGACCCAGCAGACCCAGC	0.567000														25			4		0.014758	0.0151755	1	1	0
MMP9	4318	broad.mit.edu	37	20	44640806	44640806	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:44640806C>T	uc002xqz.3	+	6	1047	c.1028C>T	c.(1027-1029)gCg>gTg	p.A343V		NM_004994	NP_004985	P14780	MMP9_HUMAN	Homo sapiens matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase) (MMP9), mRNA.	343	Fibronectin type-II 3.				collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46		Myeloproliferative disorder(115;0.0122)			Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)	GGCAACTCGGCGGGGGAGCTG	0.632000														69			32		0	0	1	0	0
SYS1	90196	broad.mit.edu	37	20	43995598	43995598	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:43995598G>A	uc021weh.1	+	4	557	c.314G>A	c.(313-315)gGc>gAc	p.G105D	SYS1_uc002xnv.3_Missense_Mutation_p.G105D|SYS1_uc002xnw.2_Intron|SYS1_uc010gha.3_Non-coding_Transcript|DBNDD2_uc002xnx.3_Intron	NM_001197129	NP_001184058	Q8N2H4	SYS1_HUMAN	Homo sapiens SYS1 Golgi-localized integral membrane protein homolog (S. cerevisiae) (SYS1), transcript variant 3, mRNA.	105					protein transport	Golgi membrane|integral to membrane				cervix(1)|endometrium(2)|large_intestine(2)|prostate(1)|skin(1)	7		Myeloproliferative disorder(115;0.0122)				CACCTCCTGGGCTGCTGGTTC	0.587000														48			36		0	0	1	0	0
NUP93	9688	broad.mit.edu	37	16	56868649	56868649	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:56868649G>A	uc002eka.3	+	15	1862	c.1741G>A	c.(1741-1743)Gat>Aat	p.D581N	NUP93_uc002ekb.3_Missense_Mutation_p.D458N|NUP93_uc010vhi.2_Missense_Mutation_p.D458N	NM_014669	NP_001229725	Q8N1F7	NUP93_HUMAN	Homo sapiens nucleoporin 93kDa (NUP93), transcript variant 1, mRNA.	581					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						TCCACAGTTCGATATGATTCT	0.338000														42			6		0	0	1	0	0
LOC81691	81691	broad.mit.edu	37	16	20838466	20838466	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:20838466C>A	uc002dhy.4	+	8	1283	c.908C>A	c.(907-909)cCt>cAt	p.P303H	ERI2_uc002dht.3_Intron|LOC81691_uc002dhv.3_Missense_Mutation_p.P303H|LOC81691_uc002dhx.3_Missense_Mutation_p.P303H	NM_001199053	NP_001185982	Q96IC2	REXON_HUMAN	Homo sapiens exonuclease NEF-sp (LOC81691), transcript variant 3, mRNA.	303	Exonuclease.					nucleolus	RNA binding|exonuclease activity|nucleotide binding			endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|skin(1)	18						CTGCTTCCTCCTGATGCTGTG	0.408000														131			10		0.000442599	0.000473562	1	1	0
EFCAB6	64800	broad.mit.edu	37	22	44022455	44022455	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:44022455G>A	uc003bdy.2	-	19	2651	c.2337C>T	c.(2335-2337)gaC>gaT	p.D779D	EFCAB6_uc003bdz.2_Silent_p.D627D|EFCAB6_uc010gzi.2_Silent_p.D627D|EFCAB6_uc010gzj.1_Silent_p.D77D|EFCAB6_uc010gzk.1_Non-coding_Transcript	NM_022785	NP_942153	Q5THR3	EFCB6_HUMAN	Homo sapiens EF-hand calcium binding domain 6 (EFCAB6), transcript variant 1, mRNA.	779					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				CAAACTCGTCGTCTTTGAGAT	0.433000														40			38		0	0	1	0	0
OR10A5	144124	broad.mit.edu	37	11	6867382	6867382	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6867382G>T	uc001met.1	+	0	469	c.469G>T	c.(469-471)Gct>Tct	p.A157S		NM_178168	NP_835462	Q9H207	O10A5_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 5 (OR10A5), mRNA.	157					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A157D(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	21		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CTTTCCTGTAGCTACTGTGCA	0.542000														56			44		2.68985e-26	3.52744e-26	1	1	0
ABCB5	340273	broad.mit.edu	37	7	20682994	20682994	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:20682994A>C	uc010kuh.3	+	5	739	c.502A>C	c.(502-504)Aca>Cca	p.T168P		NM_001163941	NP_848654	Q2M3G0	ABCB5_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 5 (ABCB5), transcript variant 1, mRNA.	354	ABC transporter 1.				regulation of membrane potential	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						CACTCGCATGACAGAGTAAGA	0.383000														57			8		0	0	1	0	0
MCM10	55388	broad.mit.edu	37	10	13231056	13231056	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:13231056C>A	uc001ima.3	+	9	1522	c.1394C>A	c.(1393-1395)tCt>tAt	p.S465Y	MCM10_uc001imb.3_Missense_Mutation_p.S464Y|MCM10_uc001imc.3_Missense_Mutation_p.S464Y	NM_182751	NP_877428	Q7L590	MCM10_HUMAN	Homo sapiens minichromosome maintenance complex component 10 (MCM10), transcript variant 1, mRNA.	465					DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|cell cycle checkpoint	nucleoplasm	metal ion binding|protein binding			central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						GGAGGGGTTTCTTCTGCCTCG	0.493000														84			6		0.0293803	0.0299714	1	1	0
ITGA7	3679	broad.mit.edu	37	12	56092276	56092276	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56092276C>A	uc001shh.3	-	6	1315	c.1095G>T	c.(1093-1095)caG>caT	p.Q365H	ITGA7_uc001shg.3_Missense_Mutation_p.Q361H|ITGA7_uc010sps.2_Missense_Mutation_p.Q268H|ITGA7_uc009znw.3_5'Flank|ITGA7_uc009znx.3_Missense_Mutation_p.Q248H	NM_001144996	NP_001138468	Q13683	ITA7_HUMAN	Homo sapiens integrin, alpha 7 (ITGA7), transcript variant 1, mRNA.	405					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						AGTGACCCCCCTGGTTCAAGT	0.607000														31			22		0.00229938	0.00241499	1	1	0
ZNF496	84838	broad.mit.edu	37	1	247463865	247463865	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:247463865G>T	uc009xgv.3	-	7	1865	c.1828C>A	c.(1828-1830)Ctg>Atg	p.L610M	ZNF496_uc001ico.3_Missense_Mutation_p.L574M	NM_032752	NP_116141	Q96IT1	ZN496_HUMAN	Homo sapiens zinc finger protein 496 (ZNF496), mRNA.	574					positive regulation of transcription, DNA-dependent|viral reproduction		DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			TTCATGTGCAGGCGCTCGTGG	0.637000														35			23		4.26978e-12	5.24748e-12	1	1	0
UGT3A1	133688	broad.mit.edu	37	5	35965820	35965820	+	Missense_Mutation	SNP	C	T	T	rs141076093		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:35965820C>T	uc003jjv.2	-	3	704	c.511G>A	c.(511-513)Ggc>Agc	p.G171S	UGT3A1_uc003jjw.2_Non-coding_Transcript|UGT3A1_uc011coq.2_Missense_Mutation_p.G171S|UGT3A1_uc011cor.2_Missense_Mutation_p.G137S|UGT3A1_uc003jjy.2_Missense_Mutation_p.G117S	NM_152404	NP_689617	Q6NUS8	UD3A1_HUMAN	Homo sapiens UDP glycosyltransferase 3 family, polypeptide A1 (UGT3A1), transcript variant 1, mRNA.	171						integral to membrane	glucuronosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TCCAAAGAGCCGAATGTGGTG	0.443000														31			25		0	0	1	0	0
CUL2	8453	broad.mit.edu	37	10	35324208	35324208	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:35324208G>A	uc010qer.2	-	9	1055	c.951C>T	c.(949-951)taC>taT	p.Y317Y	CUL2_uc021ppa.1_Silent_p.Y311Y|CUL2_uc009xma.3_Silent_p.Y167Y|CUL2_uc001ixv.3_Silent_p.Y298Y|CUL2_uc001ixw.3_Silent_p.Y298Y|CUL2_uc010qes.2_Silent_p.Y235Y	NM_001198778	NP_001185707	Q13617	CUL2_HUMAN	Homo sapiens cullin 2 (CUL2), transcript variant 1, mRNA.	298					G1/S transition of mitotic cell cycle|cell cycle arrest|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex	ubiquitin protein ligase binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2)	31						GGAGTAAGACGTACATATTTG	0.428000														59			6		0	0	1	0	0
NAP1L3	4675	broad.mit.edu	37	X	92927767	92927767	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:92927767A>G	uc004efq.3	-	0	916	c.537T>C	c.(535-537)gaT>gaC	p.D179D	FAM133A_uc022bzw.1_5'Flank|FAM133A_uc022bzu.1_5'Flank|FAM133A_uc004efr.2_5'Flank|FAM133A_uc022bzv.1_5'Flank	NM_004538	NP_004529	Q99457	NP1L3_HUMAN	Homo sapiens nucleosome assembly protein 1-like 3 (NAP1L3), mRNA.	179	Glu-rich.				nucleosome assembly	chromatin assembly complex				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						TAGGGGTGTTATCCTGCACCT	0.448000														115			11		0	0	1	0	0
CENPL	91687	broad.mit.edu	37	1	173780371	173780371	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:173780371C>T	uc001gjg.4	-	2	670	c.67G>A	c.(67-69)Ggt>Agt	p.G23S	CENPL_uc001gje.4_Missense_Mutation_p.G23S|CENPL_uc001gjf.4_Missense_Mutation_p.G23S	NM_001127181	NP_001120653	Q8N0S6	CENPL_HUMAN	Homo sapiens centromere protein L (CENPL), transcript variant 1, mRNA.	23					mitotic prometaphase	chromosome, centromeric region|cytosol|nucleus				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(3)	11						GGAGTGGCACCTATAAAGTAA	0.448000														71			60		0	0	1	0	0
C17orf28	283987	broad.mit.edu	37	17	72954809	72954809	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:72954809A>G	uc002jmj.4	-	9	1348	c.1199T>C	c.(1198-1200)gTc>gCc	p.V400A	C17orf28_uc010wrs.2_Missense_Mutation_p.V199A	NM_030630	NP_085133	Q8IV36	CQ028_HUMAN	Homo sapiens chromosome 17 open reading frame 28 (C17orf28), mRNA.	400						integral to membrane|plasma membrane	protein binding			endometrium(5)|large_intestine(5)|lung(2)|prostate(1)|skin(3)|urinary_tract(1)	17	all_lung(278;0.151)|Lung NSC(278;0.185)					GAGGATGGGGACAAGGATGTC	0.622000											OREG0024721	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		26			16		0	0	1	0	0
TAF6	6878	broad.mit.edu	37	7	99710503	99710503	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:99710503G>A	uc003uth.3	-	4	800	c.663C>T	c.(661-663)ccC>ccT	p.P221P	TAF6_uc003utg.3_Silent_p.P86P|TAF6_uc003utm.3_Silent_p.P164P|TAF6_uc003uti.3_Silent_p.P164P|TAF6_uc003utk.3_Silent_p.P164P|TAF6_uc011kji.2_Silent_p.P201P	NM_139315	NP_647476	P49848	TAF6_HUMAN	Homo sapiens TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa (TAF6), transcript variant 2, mRNA.	164					negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	MLL1 complex|cytoplasm|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CTGACTTCAGGGGTTCTGTGG	0.582000														320			29		0	0	1	0	0
RERE	473	broad.mit.edu	37	1	8617539	8617539	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:8617539C>T	uc001ape.3	-	5	1376	c.566G>A	c.(565-567)cGt>cAt	p.R189H	RERE_uc001apf.3_Missense_Mutation_p.R189H|RERE_uc001aph.1_Missense_Mutation_p.R189H	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN	Homo sapiens arginine-glutamic acid dipeptide (RE) repeats (RERE), transcript variant 1, mRNA.	189	BAH.				NLS-bearing substrate import into nucleus|multicellular organismal development	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		CTCAGATTGACGGTAGTACCA	0.403000														37			22		0	0	1	0	0
S1PR3	1903	broad.mit.edu	37	9	91616912	91616912	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:91616912A>G	uc022bjm.1	+	0	797	c.797A>G	c.(796-798)gAt>gGt	p.D266G	S1PR3_uc004aqe.3_Missense_Mutation_p.D266G	NM_005226	NP_005217	Q99500	S1PR3_HUMAN	Homo sapiens sphingosine-1-phosphate receptor 3 (S1PR3), mRNA.	266					anatomical structure morphogenesis|elevation of cytosolic calcium ion concentration|inflammatory response|positive regulation of cell proliferation	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity	p.I265T(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(1)	34						TTCCTCATTGATGTGGCCTGC	0.587000														39			7		0	0	1	0	0
GRID2	2895	broad.mit.edu	37	4	94693538	94693538	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:94693538T>C	uc011cdt.2	+	15	3171	c.2913T>C	c.(2911-2913)aaT>aaC	p.N971N	GRID2_uc011cdu.2_Silent_p.N876N	NM_001510	NP_001501	O43424	GRID2_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 2 (GRID2), mRNA.	971	Interaction with AP4M1 (By similarity).				glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	GGGCACCTAATGGGGGCTTTT	0.498000														43			5		0	0	1	0	0
MCF2L2	23101	broad.mit.edu	37	3	182910809	182910809	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:182910809G>T	uc003fli.1	-	26	3084	c.2994C>A	c.(2992-2994)gcC>gcA	p.A998A		NM_015078	NP_055893	Q86YR7	MF2L2_HUMAN	Homo sapiens MCF.2 cell line derived transforming sequence-like 2 (MCF2L2), mRNA.	998					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			CTGTGCTGGAGGCCGGGTCTT	0.493000														89			10		0.00010058	0.000109296	1	1	0
DNMT1	1786	broad.mit.edu	37	19	10251517	10251517	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10251517G>T	uc002mng.3	-	30	3595	c.3415C>A	c.(3415-3417)Ctg>Atg	p.L1139M	DNMT1_uc002mnf.3_Missense_Mutation_p.L63M|DNMT1_uc010xlc.2_Missense_Mutation_p.L1155M|DNMT1_uc002mnh.3_Missense_Mutation_p.L1034M|DNMT1_uc010xld.2_Missense_Mutation_p.L1139M	NM_001379	NP_001370	P26358	DNMT1_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 1 (DNMT1), transcript variant 2, mRNA.	1139	Catalytic.|Interaction with the PRC2/EED-EZH2 complex (By similarity).				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	AGGGTCCGCAGCTTGGGCAGC	0.612000														60			33		2.19358e-23	2.85789e-23	1	1	0
FNBP1	23048	broad.mit.edu	37	9	132662789	132662789	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:132662789C>T	uc004byw.1	-	13	1685	c.1466G>A	c.(1465-1467)cGc>cAc	p.R489H	FNBP1_uc011mbv.1_Missense_Mutation_p.R479H|FNBP1_uc011mbw.1_Missense_Mutation_p.R484H|FNBP1_uc004bza.2_Missense_Mutation_p.R423H|FNBP1_uc004byz.1_Missense_Mutation_p.R460H|FNBP1_uc011mbu.1_Missense_Mutation_p.R117H|FNBP1_uc004byx.1_Missense_Mutation_p.R405H|FNBP1_uc004byy.1_Missense_Mutation_p.R395H	NM_015033	NP_055848	Q96RU3	FNBP1_HUMAN	Homo sapiens formin binding protein 1 (FNBP1), mRNA.	489	Interaction with RND2 (By similarity).|Required for self-association and induction of membrane tubulation.				endocytosis	cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|lysosome|plasma membrane	identical protein binding|lipid binding						Ovarian(14;0.000536)		GBM - Glioblastoma multiforme(294;0.0378)		CTGCTCGCTGCGTGCTGGGAG	0.617000			T	MLL	AML									7			9		0	0	1	0	0
TRAF5	7188	broad.mit.edu	37	1	211533282	211533282	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:211533282C>T	uc010psx.2	+	4	525	c.440C>T	c.(439-441)cCt>cTt	p.P147L	TRAF5_uc001hih.3_Missense_Mutation_p.P136L|TRAF5_uc001hii.3_Missense_Mutation_p.P136L|TRAF5_uc010psy.2_Intron|TRAF5_uc001hij.3_Missense_Mutation_p.P136L	NM_001033910	NP_665702	O00463	TRAF5_HUMAN	Homo sapiens TNF receptor-associated factor 5 (TRAF5), transcript variant 3, mRNA.	136					apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis	CD40 receptor complex|centrosome|internal side of plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				OV - Ovarian serous cystadenocarcinoma(81;0.00946)|all cancers(67;0.0808)|Epithelial(68;0.144)		TTATTTCAACCTGTGCAGTGT	0.498000														55			24		0	0	1	0	0
SLC28A3	64078	broad.mit.edu	37	9	86917129	86917129	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:86917129C>A	uc010mpz.3	-	4	656	c.510G>T	c.(508-510)tgG>tgT	p.W170C	SLC28A3_uc011lsy.2_Missense_Mutation_p.W101C|SLC28A3_uc004anu.2_Missense_Mutation_p.W170C|SLC28A3_uc010mqb.3_Missense_Mutation_p.W101C	NM_001199633	NP_001186562	Q9HAS3	S28A3_HUMAN	Homo sapiens solute carrier family 28 (sodium-coupled nucleoside transporter), member 3 (SLC28A3), transcript variant 1, mRNA.	170					nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|plasma membrane	nucleoside binding			endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						TCAGCCAGAACCAATGGCTGT	0.413000														65			11		4.3838e-07	5.01911e-07	1	1	0
DOCK3	1795	broad.mit.edu	37	3	51127792	51127792	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:51127792C>T	uc011bds.2	+	8	746	c.723C>T	c.(721-723)gaC>gaT	p.D241D		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	Homo sapiens dedicator of cytokinesis 3 (DOCK3), mRNA.	241						cytoplasm	GTP binding|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		CCTTATATGACATGAGGGAAG	0.458000														14			7		0	0	1	0	0
SCN4A	6329	broad.mit.edu	37	17	62038714	62038714	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:62038714C>T	uc002jds.1	-	10	1761	c.1684G>A	c.(1684-1686)Gcc>Acc	p.A562T		NM_000334	NP_000325	P35499	SCN4A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IV, alpha subunit (SCN4A), mRNA.	562					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	AGCCACGGGGCGCAGCAGTTC	0.562000														107			73		0	0	1	0	0
CDC45	8318	broad.mit.edu	37	22	19484966	19484966	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:19484966C>A	uc011aha.2	+	8	823	c.745C>A	c.(745-747)Ctg>Atg	p.L249M	CDC45_uc021wlg.1_Non-coding_Transcript|CDC45_uc011agz.1_Missense_Mutation_p.L212M|CDC45_uc002zpr.3_Missense_Mutation_p.L217M|CDC45_uc002zpt.3_Missense_Mutation_p.L171M	NM_001178010	NP_001171481	O75419	CDC45_HUMAN	Homo sapiens cell division cycle 45 homolog (S. cerevisiae) (CDC45), transcript variant 1, mRNA.	217					DNA replication checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle	centrosome|nucleoplasm	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	19						GAATGACATGCTGTGGTACGT	0.547000														51			40		3.78316e-11	4.61119e-11	1	1	0
GLS	2744	broad.mit.edu	37	2	191818290	191818290	+	Splice_Site	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:191818290G>T	uc002usf.2	+	15	1915	c.1651_splice	c.e15-1	p.V551_splice	GLS_uc002ush.2_Splice_Site_p.V212_splice|GLS_uc010zgi.1_Splice_Site_p.V122_splice|GLS_uc010zgj.1_Splice_Site_p.V56_splice	NM_014905	NP_055720	O94925	GLSK_HUMAN	Homo sapiens glutaminase (GLS), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	551					cellular amino acid biosynthetic process|glutamate secretion|glutamine catabolic process|neurotransmitter secretion	mitochondrial matrix	glutaminase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(117;0.00625)|Epithelial(96;0.0744)|all cancers(119;0.181)		L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	TTTCTTCACAGGTAAAGTCAG	0.403000														166			11		1.08611e-07	1.25606e-07	1	1	0
ZFYVE26	23503	broad.mit.edu	37	14	68252589	68252589	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:68252589G>A	uc001xka.2	-	17	3429	c.3290C>T	c.(3289-3291)gCa>gTa	p.A1097V	ZFYVE26_uc010tsz.1_Non-coding_Transcript|ZFYVE26_uc001xkc.4_Missense_Mutation_p.A1097V	NM_015346	NP_056161	Q68DK2	ZFY26_HUMAN	Homo sapiens zinc finger, FYVE domain containing 26 (ZFYVE26), mRNA.	1097					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		CAGCTCTAGTGCCTCTCTCAG	0.542000														257			152		0	0	1	0	0
SYNM	23336	broad.mit.edu	37	15	99672813	99672813	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:99672813C>T	uc002bup.3	+	4	4365	c.4245C>T	c.(4243-4245)caC>caT	p.H1415H	SYNM_uc002buo.3_Intron|SYNM_uc002buq.3_Intron	NM_145728	NP_663780	O15061	SYNEM_HUMAN	Homo sapiens synemin, intermediate filament protein (SYNM), transcript variant A, mRNA.	1416	Interaction with DMD and UTRN.|Interaction with TLN1 and VCL.|Tail.				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						CCTCTGAACACATTGCCATCC	0.522000														127			86		0	0	1	0	0
ATRNL1	26033	broad.mit.edu	37	10	117226752	117226752	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:117226752C>T	uc001lcg.3	+	22	3872	c.3486C>T	c.(3484-3486)gtC>gtT	p.V1162V	ATRNL1_uc010qsm.2_Silent_p.V291V|ATRNL1_uc010qsn.2_Intron	NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN	Homo sapiens attractin-like 1 (ATRNL1), mRNA.	1162						integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		CGTGGTCTGTCGGTTCAACAG	0.294000														28			17		0	0	1	0	0
C2orf71	388939	broad.mit.edu	37	2	29287763	29287763	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:29287763G>A	uc002rmt.2	-	1	3839	c.3839C>T	c.(3838-3840)gCg>gTg	p.A1280V		NM_001029883	NP_001025054	A6NGG8	CB071_HUMAN	Homo sapiens chromosome 2 open reading frame 71 (C2orf71), mRNA.	1280					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						CTGGGGCTGCGCCTCTGGCTG	0.657000														17			10		0	0	1	0	0
SMCHD1	23347	broad.mit.edu	37	18	2762115	2762115	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:2762115G>A	uc002klm.4	+	35	4636	c.4447G>A	c.(4447-4449)Gtc>Atc	p.V1483I	SMCHD1_uc002klk.4_Non-coding_Transcript|SMCHD1_uc002kll.4_Non-coding_Transcript	NM_015295	NP_056110	A6NHR9	SMHD1_HUMAN	Homo sapiens structural maintenance of chromosomes flexible hinge domain containing 1 (SMCHD1), mRNA.	1483					chromosome organization		ATP binding			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						TATAGTTGAAGTCCTGCCTAA	0.378000														51			17		0	0	1	0	0
OR7E24	26648	broad.mit.edu	37	19	9362594	9362594	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9362594C>A	uc002mlb.1	+	0	875	c.875C>A	c.(874-876)gCt>gAt	p.A292D		NM_001079935	NP_001073404	Q6IFN5	O7E24_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily E, member 24 (OR7E24), mRNA.	292					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						AGTATGGTGGCTTCAGTGATG	0.517000														18			22		2.39556e-15	3.01546e-15	1	1	0
PLCB3	5331	broad.mit.edu	37	11	64027527	64027527	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:64027527G>T	uc009ypi.3	+	13	1679	c.1552G>T	c.(1552-1554)Ggc>Tgc	p.G518C	PLCB3_uc009ypg.2_Missense_Mutation_p.G518C|PLCB3_uc009yph.2_Missense_Mutation_p.G451C	NM_000932	NP_000923	Q01970	PLCB3_HUMAN	Homo sapiens phospholipase C, beta 3 (phosphatidylinositol-specific) (PLCB3), transcript variant 1, mRNA.	518					intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity	p.G518V(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						CAGCTGCCCAGGCCTGAGCAA	0.622000														18			6		5.9392e-07	6.7814e-07	1	1	0
CDC37	11140	broad.mit.edu	37	19	10502251	10502251	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10502251G>A	uc002mof.1	-	7	1229	c.1113C>T	c.(1111-1113)ggC>ggT	p.G371G		NM_007065	NP_008996	Q16543	CDC37_HUMAN	Homo sapiens cell division cycle 37 homolog (S. cerevisiae) (CDC37), mRNA.	371					protein targeting|regulation of cyclin-dependent protein kinase activity|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway		unfolded protein binding	p.G371G(2)		breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	16			OV - Ovarian serous cystadenocarcinoma(20;4.65e-10)|Epithelial(33;6.48e-07)|all cancers(31;2.31e-06)	GBM - Glioblastoma multiforme(1328;0.0318)		CCTTCTCATCGCCCGTCTTGG	0.592000											OREG0025234	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		52			42		0	0	1	0	0
EPHA4	2043	broad.mit.edu	37	2	222294740	222294740	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:222294740G>A	uc002vmq.3	-	14	2670	c.2628C>T	c.(2626-2628)aaC>aaT	p.N876N	EPHA4_uc002vmr.2_Silent_p.N876N|EPHA4_uc010zlm.1_Silent_p.N817N	NM_004438	NP_004429	P54764	EPHA4_HUMAN	Homo sapiens EPH receptor A4 (EPHA4), mRNA.	876	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		TGTCCAACATGTTGACAATCT	0.522000														111			9		0	0	1	0	0
DDX52	11056	broad.mit.edu	37	17	35992283	35992283	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:35992283C>T	uc002hoi.2	-	3	507	c.463G>A	c.(463-465)Gat>Aat	p.D155N	DDX52_uc002hoh.2_Missense_Mutation_p.D47N|DDX52_uc002hoj.1_Missense_Mutation_p.D63N	NM_007010	NP_008941	Q9Y2R4	DDX52_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 52 (DDX52), mRNA.	155						nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			biliary_tract(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|ovary(1)|skin(3)	17		Breast(25;0.00637)|Ovarian(249;0.15)				TCAGGAAGATCGGTTCCTTGG	0.388000														74			28		0	0	1	0	0
CRB2	286204	broad.mit.edu	37	9	126125293	126125293	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:126125293T>C	uc004bnx.1	+	1	336	c.244T>C	c.(244-246)Tgt>Cgt	p.C82R	CRB2_uc004bnw.1_Missense_Mutation_p.C82R	NM_173689	NP_775960	Q5IJ48	CRUM2_HUMAN	Homo sapiens crumbs homolog 2 (Drosophila) (CRB2), mRNA.	82	EGF-like 1.					extracellular region|integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						CGGCGCTCTGTGTGTGCCCCA	0.677000														31			12		0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152325257	152325257	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:152325257G>A	uc001ezw.4	-	2	5078	c.5005C>T	c.(5005-5007)Cat>Tat	p.H1669Y	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	1669							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTCCTGTATGTGTGTGTGAG	0.502000														213			127		0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237955587	237955587	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:237955587T>G	uc001hyl.1	+	93	13866	c.13746T>G	c.(13744-13746)atT>atG	p.I4582M	RYR2_uc010pyb.1_Missense_Mutation_p.I15M	NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	4582					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ACACGGTCATTTCTTTCTTCT	0.478000														51			4		0	0	1	0	0
VCAM1	7412	broad.mit.edu	37	1	101186146	101186146	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:101186146G>A	uc001dti.3	+	1	400	c.179G>A	c.(178-180)aGa>aAa	p.R60K	VCAM1_uc010ouj.2_Intron|VCAM1_uc001dtj.3_Missense_Mutation_p.R60K	NM_001078	NP_001069	P19320	VCAM1_HUMAN	Homo sapiens vascular cell adhesion molecule 1 (VCAM1), transcript variant 1, mRNA.	60	Ig-like C2-type 1.				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding	p.R60K(2)		central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	TTCTCTTGGAGAACCCAGATA	0.478000														69			28		0	0	1	0	0
KRTCAP3	200634	broad.mit.edu	37	2	27666108	27666108	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:27666108G>A	uc002rks.3	+	3	488	c.441G>A	c.(439-441)ccG>ccA	p.P147P	KRTCAP3_uc010ylr.2_Silent_p.P147P|KRTCAP3_uc021vfd.1_Silent_p.P147P|KRTCAP3_uc002rkt.3_Silent_p.P129P	NM_173853	NP_776252	Q53RY4	KCP3_HUMAN	Homo sapiens keratinocyte associated protein 3 (KRTCAP3), transcript variant 2, mRNA.	147						integral to membrane				large_intestine(1)|lung(2)	3	Acute lymphoblastic leukemia(172;0.155)					ATGAGGGGCCGGGACATACTG	0.542000														33			27		0	0	1	0	0
HSPA4	3308	broad.mit.edu	37	5	132424247	132424247	+	Splice_Site	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:132424247G>T	uc003kyj.3	+	9	1418	c.1137_splice	c.e9+1	p.Q379_splice		NM_002154	NP_002145	P34932	HSP74_HUMAN	Homo sapiens heat shock 70kDa protein 4 (HSPA4), mRNA.	379					cellular chaperone-mediated protein complex assembly|protein import into mitochondrial outer membrane|response to unfolded protein	cytoplasm|nucleus	ATP binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|stomach(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GTGCATTGCAGGTGAATATTC	0.373000														61			23		6.44725e-10	7.73661e-10	1	1	0
ANKRD50	57182	broad.mit.edu	37	4	125593066	125593066	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:125593066C>T	uc010inw.3	-	3	2404	c.1366G>A	c.(1366-1368)Gca>Aca	p.A456T	ANKRD50_uc011cgo.2_Missense_Mutation_p.A277T	NM_020337	NP_001161354	Q9ULJ7	ANR50_HUMAN	Homo sapiens ankyrin repeat domain 50 (ANKRD50), transcript variant 1, mRNA.	456										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						AAGTGCAATGCAAATTCTTGT	0.383000														89			42		0	0	1	0	0
PRB1	5542	broad.mit.edu	37	12	11506656	11506656	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:11506656G>A	uc001qzw.1	-	2	418	c.381C>T	c.(379-381)aaC>aaT	p.N127N	PRB1_uc001qzu.1_Intron|PRB1_uc001qzv.1_Intron	NM_005039	NP_005030	P04280	PRP1_HUMAN	Homo sapiens proline-rich protein BstNI subfamily 1 (PRB1), transcript variant 1, mRNA.	127	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].		Missing (in allele M).|Missing (in clone CP-4).|Missing (in clone CP-5).			extracellular region				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			CTTGAGGTCTGTTGCCTCCTT	0.602000														445			27		0	0	1	0	0
CTBP1	1487	broad.mit.edu	37	4	1206156	1206156	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:1206156C>A	uc003gcw.3	-	8	1363	c.1198G>T	c.(1198-1200)Ggt>Tgt	p.G400C	AX747592_uc003gcs.1_Non-coding_Transcript|CTBP1_uc003gcu.1_Missense_Mutation_p.G388C|CTBP1_uc003gcv.1_Missense_Mutation_p.G399C	NM_001328	NP_001319	Q13363	CTBP1_HUMAN	Homo sapiens C-terminal binding protein 1 (CTBP1), transcript variant 1, mRNA.	399					interspecies interaction between organisms|negative regulation of cell proliferation|negative regulation of histone H4 acetylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone deacetylation|protein phosphorylation|regulation of cell cycle|regulation of transcription by chromatin organization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|viral genome replication|white fat cell differentiation	cytoplasm|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein C-terminus binding|protein domain specific binding|transcription factor binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	8			OV - Ovarian serous cystadenocarcinoma(23;0.00818)	Colorectal(103;0.2)		GGGACGATACCTTCCACAGCA	0.711000														1			3		0.150653	0.152248	1	1	0
CCNT2	905	broad.mit.edu	37	2	135696617	135696617	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:135696617A>C	uc002tuc.2	+	3	448	c.415A>C	c.(415-417)Atg>Ctg	p.M139L	CCNT2_uc010zbf.2_5'UTR|CCNT2_uc002tub.2_Missense_Mutation_p.M139L|CCNT2_uc002tud.2_5'UTR	NM_058241	NP_490595	O60583	CCNT2_HUMAN	Homo sapiens cyclin T2 (CCNT2), transcript variant b, mRNA.	139					cell cycle|cell division|interspecies interaction between organisms|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein kinase binding			endometrium(2)|kidney(3)|large_intestine(10)|lung(6)|ovary(2)|prostate(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.107)		TGAAACCATAATGCTACAAAC	0.284000														60			9		0	0	1	0	0
CDCP2	200008	broad.mit.edu	37	1	54605592	54605592	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:54605592G>A	uc001cwv.1	-	3	1799	c.951C>T	c.(949-951)gaC>gaT	p.D317D		NM_201546	NP_963840	Q5VXM1	CDCP2_HUMAN	Homo sapiens CUB domain containing protein 2 (CDCP2), mRNA.	317	CUB 3.					extracellular region				kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|stomach(1)	24						CCGCCAGATGGTCAAAGTCAC	0.637000														19			11		0	0	1	0	0
CTTNBP2NL	55917	broad.mit.edu	37	1	112999761	112999761	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:112999761A>G	uc001ebx.3	+	5	1875	c.1647A>G	c.(1645-1647)tcA>tcG	p.S549S	CTTNBP2NL_uc001ebz.3_Non-coding_Transcript	NM_018704	NP_061174	Q9P2B4	CT2NL_HUMAN	Homo sapiens CTTNBP2 N-terminal like (CTTNBP2NL), mRNA.	549						actin cytoskeleton	protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	29		all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CAAGCCATTCACCTACTCCAG	0.552000														51			45		0	0	1	0	0
HOXC13	3229	broad.mit.edu	37	12	54338866	54338866	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:54338866G>T	uc001sei.3	+	1	934	c.819G>T	c.(817-819)aaG>aaT	p.K273N		NM_017410	NP_059106	P31276	HXC13_HUMAN	Homo sapiens homeobox C13 (HOXC13), mRNA.	273						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(1)|skin(1)	3						TGCAGCTGAAGGAGCTAGAGA	0.607000			T	NUP98	AML									96			9		4.68919e-08	5.46558e-08	1	1	0
DGKD	8527	broad.mit.edu	37	2	234368407	234368407	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:234368407G>A	uc002vui.1	+	22	2711	c.2699G>A	c.(2698-2700)cGc>cAc	p.R900H	DGKD_uc002vuj.1_Missense_Mutation_p.R856H|DGKD_uc010fyi.1_Non-coding_Transcript	NM_152879	NP_690618	Q16760	DGKD_HUMAN	Homo sapiens diacylglycerol kinase, delta 130kDa (DGKD), transcript variant 2, mRNA.	900					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity	p.R900C(1)		central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	GCTCAGTGTCGCACGGTGAAG	0.567000														24			15		0	0	1	0	0
ZNF318	24149	broad.mit.edu	37	6	43310568	43310568	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:43310568G>A	uc003oux.3	-	6	3200	c.3122C>T	c.(3121-3123)gCc>gTc	p.A1041V	ZNF318_uc003ouw.3_Non-coding_Transcript	NM_014345	NP_055160	Q5VUA4	ZN318_HUMAN	Homo sapiens zinc finger protein 318 (ZNF318), mRNA.	1041					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			GGGGCTTTCGGCAGGCTTGGG	0.458000														43			29		0	0	1	0	0
GABRA4	2557	broad.mit.edu	37	4	46994913	46994913	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:46994913T>C	uc003gxg.3	-	1	1120	c.137A>G	c.(136-138)gAa>gGa	p.E46G	GABRA4_uc021xnz.1_Missense_Mutation_p.E27G|GABRA4_uc021xoa.1_Missense_Mutation_p.E27G	NM_000809	NP_000800	P48169	GBRA4_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 4 (GABRA4), transcript variant 1, mRNA.	46					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GGTGAAATTTTCTGTGCACAA	0.458000														57			5		0	0	1	0	0
KIAA0195	9772	broad.mit.edu	37	17	73492414	73492414	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:73492414C>T	uc010wsa.2	+	22	3327	c.3135C>T	c.(3133-3135)ggC>ggT	p.G1045G	KIAA0195_uc002jnz.4_Silent_p.G1035G|KIAA0195_uc010wsb.2_Silent_p.G675G|KIAA0195_uc002job.4_Silent_p.G43G	NM_014738	NP_055553	Q12767	K0195_HUMAN	Homo sapiens KIAA0195 (KIAA0195), mRNA.	1035					ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism			breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			AGACCTTTGGCTACGCCACCA	0.622000														27			16		0	0	1	0	0
OSTN	344901	broad.mit.edu	37	3	190967869	190967869	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:190967869G>A	uc011bsn.2	+	2	361	c.361G>A	c.(361-363)Gat>Aat	p.D121N		NM_198184	NP_937827	P61366	OSTN_HUMAN	Homo sapiens osteocrin (OSTN), mRNA.	121					cell differentiation|multicellular organismal development|ossification		hormone activity			kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|skin(2)	13	all_cancers(143;6.79e-09)|Ovarian(172;0.103)		LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000254)		TATCCCCATGGATCGGATTGG	0.353000														58			37		0	0	1	0	0
TDGF1P3	6998	broad.mit.edu	37	X	109764812	109764812	+	RNA	SNP	T	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:109764812T>A	uc004eos.1	+	0		c.1273T>A								Homo sapiens teratocarcinoma-derived growth factor 1 pseudogene 3 (TDGF1P3), non-coding RNA.																		TGTGATGGCCTTGTGATGGAT	0.542000														54			7		0	0	1	0	0
GOLGA3	2802	broad.mit.edu	37	12	133381515	133381515	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:133381515G>A	uc001ukz.1	-	6	1943	c.1384C>T	c.(1384-1386)Cgg>Tgg	p.R462W	GOLGA3_uc021rgt.1_Non-coding_Transcript|GOLGA3_uc001ula.1_Missense_Mutation_p.R462W|GOLGA3_uc001ulb.3_Missense_Mutation_p.R462W	NM_005895	NP_005886	Q08378	GOGA3_HUMAN	Homo sapiens golgin A3 (GOLGA3), transcript variant 1, mRNA.	462					intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		GAATCCTGCCGCTGCTGGCTG	0.612000														26			26		0	0	1	0	0
C2orf77	129881	broad.mit.edu	37	2	170537695	170537695	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:170537695G>T	uc002ufe.2	-	1	210	c.116C>A	c.(115-117)cCt>cAt	p.P39H		NM_001085447	NP_001078916	Q0VFZ6	CB077_HUMAN	Homo sapiens chromosome 2 open reading frame 77 (C2orf77), mRNA.	39										endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|urinary_tract(2)	23						TACTTTGCTAGGTAGAAGAGG	0.383000														40			5		3.59834e-05	3.95114e-05	1	1	0
TRAPPC10	7109	broad.mit.edu	37	21	45479009	45479009	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:45479009T>C	uc002zea.3	+	5	873	c.704T>C	c.(703-705)aTg>aCg	p.M235T	TRAPPC10_uc010gpo.3_5'UTR|TRAPPC10_uc002zdz.3_Missense_Mutation_p.M235T	NM_003274	NP_003265	P48553	TPC10_HUMAN	Homo sapiens trafficking protein particle complex 10 (TRAPPC10), mRNA.	235					vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						GTTTTCGAGATGCTGCAGCAG	0.473000														44			30		0	0	1	0	0
TAF4	6874	broad.mit.edu	37	20	60575608	60575608	+	Splice_Site	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:60575608C>A	uc002ybs.3	-	10	2656	c.2656_splice	c.e10+1	p.G886_splice		NM_003185	NP_003176	O00268	TAF4_HUMAN	Homo sapiens TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa (TAF4), mRNA.	886					interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	MLL1 complex|cytoplasm|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			ACCAACGTACCTATTTCTAAT	0.478000														73			7		0.000274275	0.000294507	1	1	0
ZNF417	147687	broad.mit.edu	37	19	58420585	58420585	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58420585C>T	uc002qqq.3	-	2	1260	c.1061G>A	c.(1060-1062)tGt>tAt	p.C354Y	ZNF417_uc010yhm.2_Missense_Mutation_p.C311Y|ZNF417_uc002qqr.3_Missense_Mutation_p.C353Y	NM_152475	NP_689688	Q8TAU3	ZN417_HUMAN	Homo sapiens zinc finger protein 417 (ZNF417), mRNA.	354					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|stomach(3)|upper_aerodigestive_tract(1)	18		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0151)		ACATTCCCCACAGTGATAAGC	0.428000														148			13		0	0	1	0	0
FAM83A	84985	broad.mit.edu	37	8	124219712	124219712	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:124219712G>A	uc003ypv.3	+	4	3103	c.1089G>A	c.(1087-1089)ccG>ccA	p.P363P	FAM83A_uc003ypw.3_Intron|FAM83A_uc003ypx.3_Silent_p.P363P|FAM83A_uc003ypy.3_Intron|FAM83A_uc003ypz.3_Intron	NM_032899	NP_116288	Q86UY5	FA83A_HUMAN	Homo sapiens family with sequence similarity 83, member A (FAM83A), transcript variant 1, mRNA.	363	Pro-rich.									breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(2)|skin(1)	17	Lung NSC(37;1.55e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			CCCCACACCCGCCTCCACCGC	0.766000														3			4		0	0	1	0	0
KCNQ3	3786	broad.mit.edu	37	8	133153429	133153429	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:133153429C>T	uc003ytj.3	-	9	1637	c.1412G>A	c.(1411-1413)cGt>cAt	p.R471H	KCNQ3_uc003yti.3_Missense_Mutation_p.R351H|KCNQ3_uc010mdt.3_Missense_Mutation_p.R471H	NM_004519	NP_004510	O43525	KCNQ3_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 3 (KCNQ3), transcript variant 1, mRNA.	471					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			CGTGCGGAAACGCTCTTTATT	0.453000														80			6		0	0	1	0	0
ATG9B	285973	broad.mit.edu	37	7	150713794	150713794	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:150713794C>T	uc011kvc.2	-	10	2478	c.2402G>A	c.(2401-2403)cGa>cAa	p.R801Q	ATG9B_uc003wig.4_Non-coding_Transcript	NM_173681	NP_775952	Q674R7	ATG9B_HUMAN	Homo sapiens ATG9 autophagy related 9 homolog B (S. cerevisiae) (ATG9B), mRNA.	802					autophagic vacuole assembly	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane				cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1)	14	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CTGGGCAATTCGGGAAATGGA	0.662000														6			8		0	0	1	0	0
MED13	9969	broad.mit.edu	37	17	60060019	60060019	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:60060019C>T	uc002izo.3	-	15	3422	c.3345G>A	c.(3343-3345)acG>acA	p.T1115T		NM_005121	NP_005112	Q9UHV7	MED13_HUMAN	Homo sapiens mediator complex subunit 13 (MED13), mRNA.	1115					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						GTGCTTCCTGCGTTGGATCTG	0.378000														129			10		0	0	1	0	0
SLC26A3	1811	broad.mit.edu	37	7	107427951	107427951	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:107427951G>A	uc003ver.2	-	6	950	c.739C>T	c.(739-741)Cta>Tta	p.L247L	SLC26A3_uc003ves.2_Silent_p.L212L	NM_000111	NP_000102	P40879	S26A3_HUMAN	Homo sapiens solute carrier family 26, member 3 (SLC26A3), mRNA.	247					excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						ACAGAGTATAGTACCTACAAT	0.323000														41			73		0	0	1	0	0
PTGER4	5734	broad.mit.edu	37	5	40681276	40681276	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:40681276C>T	uc003jlz.3	+	1	773	c.181C>T	c.(181-183)Ctg>Ttg	p.L61L		NM_000958	NP_000949	P35408	PE2R4_HUMAN	Homo sapiens prostaglandin E receptor 4 (subtype EP4) (PTGER4), mRNA.	61					G-protein signaling, coupled to cAMP nucleotide second messenger|immune response	integral to membrane|plasma membrane	prostaglandin E receptor activity			breast(1)|endometrium(3)|liver(1)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						GGTATGTGGGCTGGCTGTCAC	0.622000											OREG0016588	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		63			4		0	0	1	0	0
C14orf177	283598	broad.mit.edu	37	14	99182651	99182651	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:99182651C>T	uc001yfz.2	+	2	542	c.123C>T	c.(121-123)tgC>tgT	p.C41C		NM_182560	NP_872366	Q52M58	CN177_HUMAN	Homo sapiens chromosome 14 open reading frame 177 (C14orf177), mRNA.	41										endometrium(1)|kidney(1)|large_intestine(1)|lung(10)	13		Melanoma(154;0.128)				AAGGGAAATGCCCAAGTTCTC	0.542000														27			9		0	0	1	0	0
FMR1	2332	broad.mit.edu	37	X	147026457	147026457	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:147026457T>C	uc010nst.3	+	14	1769	c.1540T>C	c.(1540-1542)Tca>Cca	p.S514P	FMR1_uc004fcj.3_Missense_Mutation_p.S491P|FMR1_uc022cgc.1_Intron|FMR1_uc022cgd.1_Non-coding_Transcript|FMR1_uc004fck.4_Intron|FMR1_uc022cge.1_Missense_Mutation_p.S493P|FMR1_uc022cgf.1_Intron|FMR1_uc022cgg.1_Non-coding_Transcript|FMR1_uc004fcl.4_Missense_Mutation_p.S354P|FMR1_uc011mxa.2_Missense_Mutation_p.S161P	NM_002024	NP_002015	Q06787	FMR1_HUMAN	Homo sapiens fragile X mental retardation 1 (FMR1), transcript variant ISO1, mRNA.	514	Interaction with RANBP9.				mRNA transport|negative regulation of translational initiation	cytoplasm|mRNA cap binding complex|nucleolus|nucleoplasm|soluble fraction	mRNA binding|protein binding			NS(1)|breast(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	35	Acute lymphoblastic leukemia(192;6.56e-05)					CAGTGATTGGTCATTAGCTCC	0.498000									Fragile X syndrome					12			16		0	0	1	0	0
EXOC3	11336	broad.mit.edu	37	5	457018	457018	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:457018G>A	uc003jba.3	+	4	1189	c.1061G>A	c.(1060-1062)aGg>aAg	p.R354K		NM_007277	NP_009208	O60645	EXOC3_HUMAN	Homo sapiens exocyst complex component 3 (EXOC3), mRNA.	365					exocytosis|protein transport					breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(13)|ovary(1)|urinary_tract(1)	23		Ovarian(839;0.0563)	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			GAGATGATGAGGAACGTGGAG	0.547000														16			11		0	0	1	0	0
ANO9	338440	broad.mit.edu	37	11	428179	428179	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:428179C>T	uc001lpi.2	-	14	1328	c.1243G>A	c.(1243-1245)Gag>Aag	p.E415K	ANO9_uc001lph.2_Missense_Mutation_p.E108K|ANO9_uc010qvv.1_Missense_Mutation_p.E271K	NM_001012302	NP_001012302	A1A5B4	ANO9_HUMAN	Homo sapiens anoctamin 9 (ANO9), mRNA.	415						chloride channel complex	chloride channel activity			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						CTCTCTCGCTCCGAGAAGGTC	0.607000														24			14		0	0	1	0	0
MYO1F	4542	broad.mit.edu	37	19	8619587	8619587	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:8619587T>C	uc002mkg.3	-	2	320	c.182A>G	c.(181-183)aAg>aGg	p.K61R	MYO1F_uc010xkf.2_Missense_Mutation_p.K61R	NM_012335	NP_036467	O00160	MYO1F_HUMAN	Homo sapiens myosin IF (MYO1F), mRNA.	61	Myosin head-like.					unconventional myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						GGGCATCTGCTTGAAGGGGTT	0.607000														73			6		0	0	1	0	0
IFNGR2	3460	broad.mit.edu	37	21	34804627	34804627	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:34804627C>T	uc002yrp.4	+	4	1353	c.705C>T	c.(703-705)taC>taT	p.Y235Y		NM_005534	NP_005525	P38484	INGR2_HUMAN	Homo sapiens interferon gamma receptor 2 (interferon gamma transducer 1) (IFNGR2), mRNA.	235					regulation of interferon-gamma-mediated signaling pathway|response to virus	endoplasmic reticulum|integral to plasma membrane	interferon-gamma receptor activity			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	13					Interferon gamma-1b(DB00033)	TATCTTGCTACGAAACAATGG	0.398000														81			59		0	0	1	0	0
TMEM246	84302	broad.mit.edu	37	9	104239238	104239238	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:104239238A>G	uc004bbm.3	-	1	459	c.137T>C	c.(136-138)cTt>cCt	p.L46P	AK094413_uc004bbl.1_5'Flank|TMEM246_uc022blf.1_Missense_Mutation_p.L46P	NM_032342	NP_115718	Q9BRR3	CI125_HUMAN	Homo sapiens chromosome 9 open reading frame 125 (C9orf125), mRNA.	46						integral to membrane											AGAGTGTAGAAGTCGGTGACA	0.572000														50			7		0	0	1	0	0
NHS	4810	broad.mit.edu	37	X	17710490	17710490	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:17710490G>T	uc011mix.2	+	2	1092	c.754G>T	c.(754-756)Gca>Tca	p.A252S	NHS_uc004cxx.3_Missense_Mutation_p.A252S|NHS_uc004cxy.3_Missense_Mutation_p.A75S|NHS_uc004cxz.3_Missense_Mutation_p.A75S|NHS_uc004cya.3_5'UTR	NM_001136024	NP_001129496	Q6T4R5	NHS_HUMAN	Homo sapiens Nance-Horan syndrome (congenital cataracts and dental anomalies) (NHS), transcript variant 2, mRNA.	252						nucleus				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					AGAGCAAAGAGCAGCTGCCCC	0.517000														53			43		1.5731e-28	2.07053e-28	1	1	0
C11orf70	85016	broad.mit.edu	37	11	101929663	101929663	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:101929663C>T	uc001pgp.3	+	2	278	c.245C>T	c.(244-246)tCt>tTt	p.S82F	C11orf70_uc001pgo.3_Missense_Mutation_p.S82F|C11orf70_uc001pgq.3_Missense_Mutation_p.S44F	NM_032930	NP_116319	Q9BRQ4	CK070_HUMAN	Homo sapiens chromosome 11 open reading frame 70 (C11orf70), transcript variant 1, mRNA.	82										breast(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|skin(2)	12	all_epithelial(12;0.0137)	Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.0137)	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0335)		CTTTCAGATTCTTCTGGACAA	0.249000														26			15		0	0	1	0	0
C19orf44	84167	broad.mit.edu	37	19	16612323	16612323	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:16612323C>T	uc002neh.1	+	1	793	c.720C>T	c.(718-720)agC>agT	p.S240S	MED26_uc002nee.2_Intron|C19orf44_uc002nef.1_Silent_p.S240S|C19orf44_uc002neg.3_Silent_p.S240S|C19orf44_uc010eai.1_Non-coding_Transcript	NM_032207	NP_115583	Q9H6X5	CS044_HUMAN	Homo sapiens chromosome 19 open reading frame 44 (C19orf44), mRNA.	240										endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						GCTTCAGCAGCGCTAACGTCA	0.318000														49			17		0	0	1	0	0
GRK5	2869	broad.mit.edu	37	10	121212232	121212232	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:121212232C>T	uc001led.3	+	13	1687	c.1454C>T	c.(1453-1455)aCt>aTt	p.T485I	GRK5_uc009xzh.3_Missense_Mutation_p.T350I	NM_005308	NP_005299	P34947	GRK5_HUMAN	Homo sapiens G protein-coupled receptor kinase 5 (GRK5), mRNA.	485	AGC-kinase C-terminal.				G-protein signaling, coupled to cAMP nucleotide second messenger|regulation of G-protein coupled receptor protein signaling pathway|tachykinin receptor signaling pathway	cytoplasm|plasma membrane|soluble fraction	ATP binding|G-protein coupled receptor kinase activity|phospholipid binding|protein kinase C binding|signal transducer activity			endometrium(2)|large_intestine(5)|lung(15)|skin(3)|stomach(1)|urinary_tract(1)	27		Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249)		all cancers(201;0.0227)		CAGTTCTCCACTGTGAAGGGC	0.602000														30			11		0	0	1	0	0
ZNF674	641339	broad.mit.edu	37	X	46360572	46360572	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:46360572C>A	uc004dgr.3	-	5	679	c.452G>T	c.(451-453)aGg>aTg	p.R151M	ZNF674_uc011mlg.2_Missense_Mutation_p.R145M|ZNF674_uc022bvl.1_Missense_Mutation_p.R146M	NM_001039891	NP_001034980	Q2M3X9	ZN674_HUMAN	Homo sapiens zinc finger protein 674 (ZNF674), transcript variant 1, mRNA.	151					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)	2						TTTTGAACACCTTTCCCATGA	0.308000														31			3		0.115264	0.116841	1	1	0
TXNL4B	54957	broad.mit.edu	37	16	72122928	72122928	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:72122928G>A	uc002fca.3	-	2	553	c.242C>T	c.(241-243)aCt>aTt	p.T81I	TXNL4B_uc010cgl.2_Non-coding_Transcript|TXNL4B_uc010vmn.2_Missense_Mutation_p.T81I|TXNL4B_uc010vmo.2_Missense_Mutation_p.T81I	NM_017853	NP_060323	Q9NX01	TXN4B_HUMAN	Homo sapiens thioredoxin-like 4B (TXNL4B), transcript variant 1, mRNA.	81					RNA splicing|mRNA processing|mitosis	spliceosomal complex				cervix(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(2)	8						GAAAAAGACAGTAGATGGAAT	0.368000														86			53		0	0	1	0	0
EIF3A	8661	broad.mit.edu	37	10	120830555	120830555	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:120830555C>T	uc001ldu.3	-	4	730	c.584G>A	c.(583-585)cGt>cAt	p.R195H	EIF3A_uc010qsu.2_Missense_Mutation_p.R161H	NM_003750	NP_003741	Q14152	EIF3A_HUMAN	Homo sapiens eukaryotic translation initiation factor 3, subunit A (EIF3A), mRNA.	195					formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity			endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		ACACAGTTTACGGAATTCAGC	0.378000														45			33		0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149481158	149481158	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:149481158C>T	uc010lpk.3	+	17	2640	c.2640C>T	c.(2638-2640)tgC>tgT	p.C880C	SSPO_uc010lpl.1_Silent_p.C215C	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	880	VWFC 1.				cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCAGCTTGTGCCCCTGCCAGC	0.642000														10			3		0	0	1	0	0
MPPED2	744	broad.mit.edu	37	11	30557550	30557550	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:30557550C>A	uc001msr.3	-	1	422	c.301G>T	c.(301-303)Gac>Tac	p.D101Y	MPPED2_uc001msq.3_Missense_Mutation_p.D101Y|MPPED2_uc009yji.3_5'UTR	NM_001584	NP_001575	Q15777	MPPD2_HUMAN	Homo sapiens metallophosphoesterase domain containing 2 (MPPED2), transcript variant 1, mRNA.	101					nervous system development		hydrolase activity|metal ion binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(15)|skin(2)|upper_aerodigestive_tract(2)	33						CCTAACCAGTCATTAAACTTC	0.498000														27			7		0.000157383	0.000170012	1	1	0
ST14	6768	broad.mit.edu	37	11	130078384	130078384	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:130078384C>T	uc001qfw.3	+	16	2267	c.2074C>T	c.(2074-2076)Cgc>Tgc	p.R692C		NM_021978	NP_068813	Q9Y5Y6	ST14_HUMAN	Homo sapiens suppression of tumorigenicity 14 (colon carcinoma) (ST14), mRNA.	692	Peptidase S1.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	GGTGCAGGAGCGCAGGCTCAA	0.622000														21			3		0	0	1	0	0
XIST	7503	broad.mit.edu	37	X	73064087	73064087	+	RNA	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:73064087A>C	uc004ebm.1	-	0		c.8502T>G								Homo sapiens X (inactive)-specific transcript (non-protein coding) (XIST), non-coding RNA.																		AATTAGGATGAACCATGTGGT	0.393000														200			14		0	0	1	0	0
ZNF121	7675	broad.mit.edu	37	19	9677208	9677208	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9677208T>C	uc010xkp.1	-	3	813	c.581A>G	c.(580-582)cAt>cGt	p.H194R	ZNF121_uc010dwt.2_Missense_Mutation_p.H194R|ZNF121_uc010xkq.1_Missense_Mutation_p.H194R	NM_001008727	NP_001008727	P58317	ZN121_HUMAN	Homo sapiens zinc finger protein 121 (ZNF121), mRNA.	194					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.H194L(2)		breast(3)|kidney(4)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	24						CTCTCCAGTATGAATTCTTAC	0.448000														62			5		0	0	1	0	0
GTPBP2	54676	broad.mit.edu	37	6	43589883	43589883	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:43589883C>T	uc003ovs.3	-	10	1526	c.1489G>A	c.(1489-1491)Gag>Aag	p.E497K	GTPBP2_uc010jyv.3_Missense_Mutation_p.E409K	NM_019096	NP_061969	Q9BX10	GTPB2_HUMAN	Homo sapiens GTP binding protein 2 (GTPBP2), mRNA.	497							GTP binding|GTPase activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(18;9.36e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000501)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			GGATTCATCTCCGGGCTCACC	0.582000														21			17		0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62292663	62292663	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:62292663C>A	uc001ntl.3	-	4	9526	c.9226G>T	c.(9226-9228)Ggt>Tgt	p.G3076C	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	3076					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				AATTTGGGACCTTTCAACTTT	0.478000														219			13		4.3838e-07	5.01911e-07	1	1	0
MKNK1	8569	broad.mit.edu	37	1	47030791	47030791	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:47030791G>T	uc001cqb.3	-	9	934	c.690C>A	c.(688-690)atC>atA	p.I230I	MKNK1_uc010omd.2_Silent_p.I94I|MKNK1_uc001cqc.3_Silent_p.I189I|MKNK1_uc009vyi.3_Silent_p.I189I|MKNK1_uc010ome.2_Silent_p.I94I|MKNK1_uc009vyj.3_Silent_p.I134I|LOC100507423_uc021onb.1_Intron	NM_003684	NP_003675	Q9BUB5	MKNK1_HUMAN	Homo sapiens MAP kinase interacting serine/threonine kinase 1 (MKNK1), transcript variant 1, mRNA.	230	Protein kinase.				intracellular protein kinase cascade|peptidyl-serine phosphorylation|regulation of translation	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	13	Acute lymphoblastic leukemia(166;0.155)					CAAAGTCACAGATTTTCACTG	0.512000														139			26		7.76418e-22	1.00674e-21	1	1	0
DNAH1	25981	broad.mit.edu	37	3	52434366	52434366	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52434366T>C	uc011bef.2	+	77	12963	c.12702T>C	c.(12700-12702)tcT>tcC	p.S4234S	DNAH1_uc003ddv.3_3'UTR	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA.	4299					ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CAGGACACTCTACCAACTATG	0.557000														90			64		0	0	1	0	0
CUL2	8453	broad.mit.edu	37	10	35327937	35327937	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:35327937A>C	uc010qer.2	-	8	949	c.845T>G	c.(844-846)aTt>aGt	p.I282S	CUL2_uc021ppa.1_Missense_Mutation_p.I276S|CUL2_uc009xma.3_Missense_Mutation_p.I132S|CUL2_uc001ixv.3_Missense_Mutation_p.I263S|CUL2_uc001ixw.3_Missense_Mutation_p.I263S|CUL2_uc010qes.2_Missense_Mutation_p.I200S	NM_001198778	NP_001185707	Q13617	CUL2_HUMAN	Homo sapiens cullin 2 (CUL2), transcript variant 1, mRNA.	263					G1/S transition of mitotic cell cycle|cell cycle arrest|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex	ubiquitin protein ligase binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2)	31						ACATTCATGAATCACCTTAGT	0.318000														27			12		0	0	1	0	0
NEK8	284086	broad.mit.edu	37	17	27068168	27068168	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:27068168G>A	uc002hcp.3	+	12	1805	c.1805G>A	c.(1804-1806)cGg>cAg	p.R602Q	TRAF4_uc002hcq.1_5'Flank|TRAF4_uc002hcs.3_5'Flank	NM_178170	NP_835464	Q86SG6	NEK8_HUMAN	Homo sapiens NIMA (never in mitosis gene a)- related kinase 8 (NEK8), mRNA.	602						cytoplasm|primary cilium	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Lung NSC(42;0.0158)					CGAGGCAGTCGGGCACCCTGT	0.577000														42			16		0	0	1	0	0
GRB7	2886	broad.mit.edu	37	17	37901696	37901696	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:37901696C>A	uc002hsr.3	+	10	1389	c.1114C>A	c.(1114-1116)Ctg>Atg	p.L372M	GRB7_uc002hss.3_Missense_Mutation_p.L372M|GRB7_uc021twu.1_Missense_Mutation_p.L395M|GRB7_uc010cwc.3_Missense_Mutation_p.L372M|GRB7_uc002hst.3_Missense_Mutation_p.L372M	NM_005310	NP_005301	Q14451	GRB7_HUMAN	Homo sapiens growth factor receptor-bound protein 7 (GRB7), transcript variant 1, mRNA.	372					blood coagulation|epidermal growth factor receptor signaling pathway|leukocyte migration|negative regulation of translation|positive regulation of cell migration|stress granule assembly	cytosol|focal adhesion|stress granule	SH3/SH2 adaptor activity|phosphatidylinositol binding|protein kinase binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			AGATAATACCCTGGTGGCCAT	0.617000														54			6		3.59834e-05	3.95114e-05	1	1	0
MCF2	4168	broad.mit.edu	37	X	138670585	138670585	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:138670585C>A	uc011mwn.1	-	23	2824	c.2818G>T	c.(2818-2820)Gat>Tat	p.D940Y	MCF2_uc004fav.3_Missense_Mutation_p.D811Y|MCF2_uc004fau.3_Missense_Mutation_p.D795Y|MCF2_uc010nsh.2_Missense_Mutation_p.D795Y|MCF2_uc011mwm.2_Missense_Mutation_p.D756Y|MCF2_uc011mwl.2_Missense_Mutation_p.D772Y|MCF2_uc011mwo.1_Missense_Mutation_p.D871Y|MCF2_uc004faw.2_Missense_Mutation_p.D855Y	NM_001171878	NP_001165349	P10911	MCF2_HUMAN	Homo sapiens MCF.2 cell line derived transforming sequence (MCF2), transcript variant 5, mRNA.	795					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	Rho guanyl-nucleotide exchange factor activity|protein binding	p.D795H(2)|p.D871H(1)		NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					ATCTTCACATCTACATTAGAA	0.338000														63			5		1	1	1	1	0
TRPV6	55503	broad.mit.edu	37	7	142574279	142574279	+	Missense_Mutation	SNP	A	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:142574279A>T	uc003wbx.2	-	5	873	c.644T>A	c.(643-645)aTg>aAg	p.M215K	TRPV6_uc003wbw.1_Missense_Mutation_p.M1K|TRPV6_uc010lou.1_Missense_Mutation_p.M86K	NM_018646	NP_061116	Q9H1D0	TRPV6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 6 (TRPV6), mRNA.	215					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					CAGGTTGTACATCTGGCAGGC	0.562000														96			5		0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	71061529	71061529	+	Silent	SNP	G	A	A	rs141223232		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:71061529G>A	uc002ezr.3	-	19	3169	c.3018C>T	c.(3016-3018)ctC>ctT	p.L1006L	HYDIN_uc010cfz.2_Silent_p.L751L|HYDIN_uc021tkq.1_Silent_p.L1006L	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	1006										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				AATAGCCTTCGAGTATCACAT	0.493000														16			8		0	0	1	0	0
NODAL	4838	broad.mit.edu	37	10	72195499	72195499	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:72195499G>T	uc001jrc.2	-	1	476	c.434C>A	c.(433-435)aCc>aAc	p.T145N		NM_018055	NP_060525	Q96S42	NODAL_HUMAN	Homo sapiens nodal homolog (mouse) (NODAL), mRNA.	145					growth	extracellular space	cytokine activity|growth factor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(2)	15						CAAGGAAAAGGTGACCTGGGA	0.557000														29			12		2.31682e-05	2.55671e-05	1	1	0
C2orf16	84226	broad.mit.edu	37	2	27799956	27799956	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:27799956G>A	uc002rkz.4	+	0	568	c.517G>A	c.(517-519)Gat>Aat	p.D173N		NM_032266	NP_115642	Q68DN1	CB016_HUMAN	Homo sapiens chromosome 2 open reading frame 16 (C2orf16), mRNA.	173										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					TAAAGGCATAGATACTGTAGA	0.403000														56			28		0	0	1	0	0
DDX26B	203522	broad.mit.edu	37	X	134681061	134681061	+	Splice_Site	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:134681061G>A	uc004eyw.4	+	6	977	c.614_splice	c.e6-1	p.G205_splice		NM_182540	NP_872346	Q5JSJ4	DX26B_HUMAN	Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B (DDX26B), mRNA.	205	VWFA.									large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					TTCTGGGATAGGTCGCTCCTA	0.274000														116			70		0	0	1	0	0
PRPF8	10594	broad.mit.edu	37	17	1578972	1578972	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:1578972G>T	uc002fte.3	-	18	2928	c.2814C>A	c.(2812-2814)ccC>ccA	p.P938P		NM_006445	NP_006436	Q6P2Q9	PRP8_HUMAN	Homo sapiens PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae) (PRPF8), mRNA.	938						U5 snRNP|catalytic step 2 spliceosome|nuclear speck	RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		GCTTAATCCAGGGTGGGAACA	0.527000														153			106		5.93467e-45	7.89835e-45	1	1	0
ADPRHL1	113622	broad.mit.edu	37	13	114078566	114078566	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:114078566C>T	uc001vtq.1	-	5	960	c.873G>A	c.(871-873)tgG>tgA	p.W291*	ADPRHL1_uc001vtp.1_Nonsense_Mutation_p.W209*	NM_138430	NP_954631	Q8NDY3	ARHL1_HUMAN	Homo sapiens ADP-ribosylhydrolase like 1 (ADPRHL1), transcript variant 1, mRNA.	291					protein de-ADP-ribosylation		ADP-ribosylarginine hydrolase activity|magnesium ion binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	11	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.0195)|GBM - Glioblastoma multiforme(44;0.116)			ACAGCTCAGTCCAGCTGTTTC	0.587000														20			9		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140783914	140783914	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140783914C>T	uc003lkh.2	+	0	1395	c.1395C>T	c.(1393-1395)aaC>aaT	p.N465N	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc011dax.2_Silent_p.N465N	NM_018921	NP_061744	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 9 (PCDHGA9), transcript variant 1, mRNA.	467	Cadherin 5.				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)			CGGAAAACAACGCCAGAGGTA	0.463000														34			28		0	0	1	0	0
UGT3A1	133688	broad.mit.edu	37	5	35954554	35954554	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:35954554C>A	uc003jjv.2	-	6	1515	c.1322G>T	c.(1321-1323)aGt>aTt	p.S441I	UGT3A1_uc003jjw.2_Non-coding_Transcript	NM_152404	NP_689617	Q6NUS8	UD3A1_HUMAN	Homo sapiens UDP glycosyltransferase 3 family, polypeptide A1 (UGT3A1), transcript variant 1, mRNA.	441						integral to membrane	glucuronosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CAGGATGACACTGGCTGCCAC	0.587000														29			6		0.0293803	0.0299714	1	1	0
VBP1	7411	broad.mit.edu	37	X	154456691	154456691	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:154456691G>A	uc004fnc.3	+	3	370	c.311G>A	c.(310-312)aGa>aAa	p.R104K	VBP1_uc004fnd.3_Missense_Mutation_p.R67K	NM_003372	NP_003363	P61758	PFD3_HUMAN	Homo sapiens von Hippel-Lindau binding protein 1 (VBP1), mRNA.	104					'de novo' posttranslational protein folding	nucleus|prefoldin complex	unfolded protein binding			NS(1)|endometrium(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					ATGGAGACCAGATTCTTGCTG	0.408000														139			92		0	0	1	0	0
ARG1	383	broad.mit.edu	37	6	131904949	131904949	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:131904949T>C	uc003qcp.2	+	7	949	c.870T>C	c.(868-870)acT>acC	p.T290T	ARG1_uc003qco.2_3'UTR|ARG1_uc010kfm.2_Silent_p.T298T|MED23_uc003qcq.3_Intron	NM_000045	NP_000036	P05089	ARGI1_HUMAN	Homo sapiens arginase, liver (ARG1), transcript variant 2, mRNA.	290			T -> S (could be a polymorphism).		arginine catabolic process|urea cycle	cytosol	arginase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|skin(3)	14	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0106)|OV - Ovarian serous cystadenocarcinoma(155;0.0713)	L-Ornithine(DB00129)	AAGAAGTAACTCGAACAGTGA	0.413000														50			6		0	0	1	0	0
ADCY2	108	broad.mit.edu	37	5	7706895	7706895	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:7706895G>A	uc003jdz.1	+	7	1215	c.1148G>A	c.(1147-1149)cGc>cAc	p.R383H	ADCY2_uc011cmo.1_Missense_Mutation_p.R203H	NM_020546	NP_065433	Q08462	ADCY2_HUMAN	Homo sapiens adenylate cyclase 2 (brain) (ADCY2), mRNA.	383					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						ATCAACATGCGCGTGGGCGTG	0.473000														76			51		0	0	1	0	0
OXR1	55074	broad.mit.edu	37	8	107722882	107722882	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:107722882C>T	uc011lht.2	+	8	1759	c.1660C>T	c.(1660-1662)Cga>Tga	p.R554*	OXR1_uc022azp.1_Nonsense_Mutation_p.R553*|OXR1_uc003ymf.3_Nonsense_Mutation_p.R553*|OXR1_uc011lhu.2_Nonsense_Mutation_p.R546*|OXR1_uc010mcg.3_Intron|OXR1_uc010mch.3_Nonsense_Mutation_p.R251*	NM_001198532	NP_001185461	Q8N573	OXR1_HUMAN	Homo sapiens oxidation resistance 1 (OXR1), transcript variant 3, mRNA.	554					cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion				NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			GCAAAGGCATCGATTACATAA	0.358000														49			6		0	0	1	0	0
CPT1C	126129	broad.mit.edu	37	19	50209622	50209622	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:50209622C>T	uc010eng.3	+	11	1611	c.1295C>T	c.(1294-1296)tCg>tTg	p.S432L	CPT1C_uc002ppl.4_Missense_Mutation_p.S398L|CPT1C_uc002ppi.3_Missense_Mutation_p.S349L|CPT1C_uc002ppk.3_Missense_Mutation_p.S421L|CPT1C_uc010enh.3_Missense_Mutation_p.S432L|CPT1C_uc002ppj.3_Missense_Mutation_p.S432L|CPT1C_uc010ybc.1_Missense_Mutation_p.S303L|CPT1C_uc010eni.1_Missense_Mutation_p.S89L	NM_001199753	NP_001186682	Q8TCG5	CPT1C_HUMAN	Homo sapiens carnitine palmitoyltransferase 1C (CPT1C), transcript variant 4, mRNA.	432					fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		CCGGCAGCGTCGTTGGATGCC	0.672000														5			6		0	0	1	0	0
ZBED1	9189	broad.mit.edu	37	X	2408758	2408758	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:2408758C>T	uc022brx.1	-	0	3	c.3G>A	c.(1-3)atG>atA	p.M1I	DHRSX_uc004cqf.4_Intron|ZBED1_uc004cqh.2_Missense_Mutation_p.M1I|ZBED1_uc004cqg.2_Missense_Mutation_p.M1I|ZBED1_uc022brw.1_Missense_Mutation_p.M1I	NM_004729	NP_004720	O96006	ZBED1_HUMAN	Homo sapiens zinc finger, BED-type containing 1 (ZBED1), transcript variant 2, mRNA.	1						nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity			endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TTTTATTCTCCATTGCTTCTC	0.597000														75			45		0	0	1	0	0
ARID2	196528	broad.mit.edu	37	12	46244955	46244955	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:46244955C>T	uc001ros.1	+	14	3049	c.3049C>T	c.(3049-3051)Cat>Tat	p.H1017Y	ARID2_uc001ror.3_Missense_Mutation_p.H1017Y|ARID2_uc009zkg.1_Missense_Mutation_p.H473Y|ARID2_uc009zkh.1_Missense_Mutation_p.H644Y|ARID2_uc001rou.1_Missense_Mutation_p.H351Y	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	Homo sapiens AT rich interactive domain 2 (ARID, RFX-like) (ARID2), mRNA.	1017	Gln-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		ACAGCAGCAACATTCACCAGC	0.512000			"""N, S, F"""		hepatocellular carcinoma									36			18		0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168107137	168107137	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:168107137A>G	uc002udx.3	+	8	9324	c.9235A>G	c.(9235-9237)Aca>Gca	p.T3079A	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.T2904A|XIRP2_uc010fpq.3_Missense_Mutation_p.T2857A|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	2904				E -> G (in Ref. 8; CAD91137).	actin cytoskeleton organization	cell junction	actin binding	p.T3079A(2)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CAAAGAGAAAACAGTACAGCA	0.368000														66			11		0	0	1	0	0
ADAMTS6	11174	broad.mit.edu	37	5	64748588	64748588	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:64748588C>A	uc003jtp.3	-	4	1603	c.789G>T	c.(787-789)gtG>gtT	p.V263V	ADAMTS6_uc003jto.3_Non-coding_Transcript|ADAMTS6_uc003jtq.3_Non-coding_Transcript|ADAMTS6_uc003jtr.1_5'UTR	NM_197941	NP_922932	Q9UKP5	ATS6_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 6 (ADAMTS6), mRNA.	263	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		CATGGTAGCCCACCATCATTT	0.383000														55			31		3.80469e-20	4.90598e-20	1	1	0
TNPO2	30000	broad.mit.edu	37	19	12812258	12812258	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:12812258C>T	uc002mup.3	-	22	3304	c.2842G>A	c.(2842-2844)Ggc>Agc	p.G948S	TNPO2_uc002muq.3_Missense_Mutation_p.G856S|TNPO2_uc002muo.3_Missense_Mutation_p.G866S|TNPO2_uc002mur.3_Missense_Mutation_p.G856S	NM_013433	NP_038461	O14787	TNPO2_HUMAN	Homo sapiens transportin 2 (TNPO2), transcript variant 2, mRNA.	866					intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TCTTTGAAGCCGTGGAGAATC	0.592000														22			27		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140773751	140773751	+	Nonsense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140773751C>A	uc003lkd.2	+	0	2269	c.1371C>A	c.(1369-1371)taC>taA	p.Y457*	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkb.4_Nonsense_Mutation_p.Y457*|PCDHGC5_uc003lkc.2_Intron	NM_032088	NP_114477	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 8 (PCDHGA8), transcript variant 1, mRNA.	459	Cadherin 5.				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)			ATGCCTCCTACTCAGCGTATA	0.522000														22			3		0.115264	0.116841	1	1	0
NUFIP1	26747	broad.mit.edu	37	13	45533618	45533618	+	Silent	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:45533618T>G	uc001uzp.2	-	6	961	c.919A>C	c.(919-921)Aga>Cga	p.R307R		NM_012345	NP_036477	Q9UHK0	NUFP1_HUMAN	Homo sapiens nuclear fragile X mental retardation protein interacting protein 1 (NUFIP1), mRNA.	307					RNA processing|box C/D snoRNP assembly|positive regulation of transcription from RNA polymerase II promoter	actin cytoskeleton|cytosolic ribosome|nuclear matrix|nucleolus|perichromatin fibrils|pre-snoRNP complex|presynaptic active zone|transcription elongation factor complex	DNA binding|RNA binding|identical protein binding|protein binding, bridging|zinc ion binding	p.Q306Q(1)		breast(2)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(4)|skin(3)	18		Lung NSC(96;8.23e-05)|Breast(139;0.00378)|Prostate(109;0.0107)|all_hematologic(4;0.014)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)|Acute lymphoblastic leukemia(4;0.143)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000306)|BRCA - Breast invasive adenocarcinoma(63;0.125)		GTGACTGCTCTCTGTCTAGAA	0.443000														104			47		0	0	1	0	0
AATK	9625	broad.mit.edu	37	17	79093232	79093232	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:79093232C>T	uc010dia.3	-	12	4112	c.4032G>A	c.(4030-4032)acG>acA	p.T1344T	AATK_uc010dhz.3_Non-coding_Transcript|AATK_uc021ueu.1_Silent_p.T1241T	NM_001080395	NP_001073864	Q6ZMQ8	LMTK1_HUMAN	Homo sapiens apoptosis-associated tyrosine kinase (AATK), transcript variant 1, mRNA.	1344						integral to membrane|mitochondrion|perinuclear region of cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(2)|kidney(2)|lung(8)|ovary(3)|prostate(1)|stomach(4)|upper_aerodigestive_tract(1)	21	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			AGAAGCGGGACGTGGGCGCGG	0.736000														13			6		0	0	1	0	0
CAPNS1	826	broad.mit.edu	37	19	36637211	36637211	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:36637211T>C	uc002odi.1	+	8	875	c.718T>C	c.(718-720)Ttc>Ctc	p.F240L	CAPNS1_uc002odk.3_Missense_Mutation_p.F240L|CAPNS1_uc002odj.3_Missense_Mutation_p.F240L|CAPNS1_uc002odl.3_Missense_Mutation_p.F240L	NM_001749	NP_001740	P04632	CPNS1_HUMAN	Homo sapiens calpain, small subunit 1 (CAPNS1), transcript variant 1, mRNA.	240	EF-hand 5.				positive regulation of cell proliferation	cytoplasm|plasma membrane	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GGACGCCATGTTCCGTGAGTG	0.507000														98			67		0	0	1	0	0
TRIM35	23087	broad.mit.edu	37	8	27151645	27151645	+	Silent	SNP	G	A	A	rs144594991	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:27151645G>A	uc003xfl.1	-	2	796	c.714C>T	c.(712-714)atC>atT	p.I238I	TRIM35_uc010lup.1_Silent_p.I206I|TRIM35_uc003xfm.1_Non-coding_Transcript	NM_171982	NP_741983	Q9UPQ4	TRI35_HUMAN	Homo sapiens tripartite motif containing 35 (TRIM35), transcript variant 2, mRNA.	238					apoptosis|induction of apoptosis|negative regulation of mitotic cell cycle	cytoplasm|nucleus	zinc ion binding			breast(1)|endometrium(6)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	14		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|Epithelial(17;9.34e-10)|Colorectal(74;0.141)		GCAGCCGCTCGATCTCATGTG	0.552000														30			25		0	0	1	0	0
NUMA1	4926	broad.mit.edu	37	11	71715338	71715338	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:71715338C>T	uc001orl.1	-	24	6228	c.6056G>A	c.(6055-6057)cGa>cAa	p.R2019Q	NUMA1_uc001orj.2_Missense_Mutation_p.R201Q|NUMA1_uc009ysw.1_Missense_Mutation_p.R1586Q|NUMA1_uc001ork.1_Missense_Mutation_p.R883Q|NUMA1_uc001orm.1_Missense_Mutation_p.R2005Q	NM_006185	NP_006176	Q14980	NUMA1_HUMAN	Homo sapiens nuclear mitotic apparatus protein 1 (NUMA1), mRNA.	2019					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						CCCTTCATGTCGGTCTCGGGG	0.557000			T	RARA	APL									51			30		0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	30935223	30935223	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:30935223G>A	uc002nsu.1	+	1	892	c.754G>A	c.(754-756)Gcc>Acc	p.A252T	ZNF536_uc010edd.1_Missense_Mutation_p.A252T	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	252					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					TCCCGACGTGGCCCACCCGGT	0.736000														6			6		0	0	1	0	0
TRIM10	10107	broad.mit.edu	37	6	30122144	30122144	+	Missense_Mutation	SNP	G	A	A	rs146058085	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:30122144G>A	uc003npo.3	-	6	1124	c.1048C>T	c.(1048-1050)Cgg>Tgg	p.R350W	TRIM10_uc003npn.2_Missense_Mutation_p.R350W	NM_006778	NP_006769	Q9UDY6	TRI10_HUMAN	Homo sapiens tripartite motif containing 10 (TRIM10), transcript variant 1, mRNA.	350	B30.2/SPRY.					cytoplasm	zinc ion binding			ovary(1)	1						CAGGTGGCCCGGTCAAAACGT	0.607000														23			8		0	0	1	0	0
IL26	55801	broad.mit.edu	37	12	68619372	68619372	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:68619372C>T	uc001stx.1	-	0	200	c.165G>A	c.(163-165)acG>acA	p.T55T		NM_018402	NP_060872	Q9NPH9	IL26_HUMAN	Homo sapiens interleukin 26 (IL26), mRNA.	55					cell-cell signaling|negative regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of JAK-STAT cascade|positive regulation of cytokine secretion|positive regulation of protein kinase B signaling cascade|positive regulation of stress-activated MAPK cascade|positive regulation of transcription from RNA polymerase II promoter	cytosol|extracellular space|soluble fraction	cytokine activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	12			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000515)		TTACTGGAATCGTTGCTTTGA	0.408000														119			68		0	0	1	0	0
CCDC13	152206	broad.mit.edu	37	3	42754752	42754752	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:42754752C>T	uc003cly.4	-	13	1859	c.1775G>A	c.(1774-1776)cGa>cAa	p.R592Q		NM_144719	NP_653320	Q8IYE1	CCD13_HUMAN	Homo sapiens coiled-coil domain containing 13 (CCDC13), mRNA.	592										endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						GGTGCGGTGTCGCTCCTCCTG	0.602000														109			12		0	0	1	0	0
RAI2	10742	broad.mit.edu	37	X	17818948	17818948	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:17818948G>T	uc022btm.1	-	0	1183	c.1183C>A	c.(1183-1185)Cca>Aca	p.P395T	RAI2_uc004cyf.3_Missense_Mutation_p.P395T|RAI2_uc004cyg.3_Missense_Mutation_p.P395T|RAI2_uc011miy.2_Missense_Mutation_p.P345T|RAI2_uc022btl.1_Missense_Mutation_p.P395T|RAI2_uc004cyh.4_Missense_Mutation_p.P395T|RAI2_uc010nfa.3_Missense_Mutation_p.P395T	NM_021785	NP_068557	Q9Y5P3	RAI2_HUMAN	Homo sapiens retinoic acid induced 2 (RAI2), transcript variant 2, mRNA.	395					embryo development					breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	22	Hepatocellular(33;0.183)					ATCATGGCTGGGGCCTCATGG	0.542000														79			6		0.000157383	0.000170012	1	1	0
TTI1	9675	broad.mit.edu	37	20	36640081	36640081	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:36640081G>T	uc002xhl.3	-	2	2347	c.2138C>A	c.(2137-2139)cCt>cAt	p.P713H	TTI1_uc002xhm.3_Missense_Mutation_p.P713H	NM_014657	NP_055472	O43156	TTI1_HUMAN	Homo sapiens TELO2 interacting protein 1 (TTI1), mRNA.	713							binding			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						TGGGGTATGAGGATGCAGAGC	0.498000														31			6		0.0215528	0.0220531	1	1	0
HLA-DRA	3122	broad.mit.edu	37	6	32410377	32410377	+	Missense_Mutation	SNP	T	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:32410377T>A	uc003obh.3	+	1	344	c.235T>A	c.(235-237)Ttt>Att	p.F79I	HLA-DRA_uc003obi.3_Missense_Mutation_p.F79I	NM_019111	NP_061984	P01903	DRA_HUMAN	Homo sapiens major histocompatibility complex, class II, DR alpha (HLA-DRA), mRNA.	79	Alpha-1.				T cell costimulation|T cell receptor signaling pathway|antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway	Golgi apparatus|MHC class II protein complex|endoplasmic reticulum membrane|integral to plasma membrane|late endosome membrane|lysosomal membrane	MHC class II receptor activity			NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19						ATTTGCCAGCTTTGAGGCTCA	0.468000									T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Kaposi Sarcoma, Familial Clustering of					67			34		0	0	1	0	0
GNB2	2783	broad.mit.edu	37	7	100276322	100276322	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100276322C>T	uc003uwb.3	+	9	1194	c.921C>T	c.(919-921)gtC>gtT	p.V307V	GNB2_uc003uwf.3_Silent_p.V207V	NM_005273	NP_005264	P62879	GBB2_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), beta polypeptide 2 (GNB2), mRNA.	307					G-protein coupled receptor protein signaling pathway|cellular response to glucagon stimulus|energy reserve metabolic process|synaptic transmission	perinuclear region of cytoplasm|plasma membrane	GTPase activity|GTPase binding|signal transducer activity			endometrium(1)|lung(3)|ovary(2)|prostate(1)	7	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)	Ovarian(593;0.238)				TCACAGGAGTCCTCGCTGGCC	0.647000														39			45		0	0	1	0	0
LRP5L	91355	broad.mit.edu	37	22	25750681	25750681	+	Silent	SNP	G	A	A	rs150219610		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:25750681G>A	uc003abs.3	-	2	3002	c.537C>T	c.(535-537)acC>acT	p.T179T	LRP5L_uc011ajz.2_Silent_p.T179T|LRP5L_uc010guw.1_Silent_p.T179T	NM_182492	NP_872298	A4QPB2	LRP5L_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 5-like (LRP5L), transcript variant 1, mRNA.	179										central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(2)	6						GCTGCCAGGCGGTCCAGTAGA	0.577000														56			6		0	0	1	0	0
STK40	83931	broad.mit.edu	37	1	36814358	36814358	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:36814358C>T	uc001cak.1	-	7	1089	c.682G>A	c.(682-684)Gac>Aac	p.D228N	STK40_uc001cal.1_Missense_Mutation_p.D233N|STK40_uc001cam.1_Missense_Mutation_p.D228N|STK40_uc001can.1_Missense_Mutation_p.D228N	NM_032017	NP_114406	Q8N2I9	STK40_HUMAN	Homo sapiens serine/threonine kinase 40 (STK40), mRNA.	228	Protein kinase.					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|stomach(1)	13		Myeloproliferative disorder(586;0.0393)				TTCAGCAGGTCCCCCTCGCTC	0.557000														11			3		0	0	1	0	0
CCDC88B	283234	broad.mit.edu	37	11	64120274	64120274	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:64120274G>A	uc001nzy.3	+	19	3464	c.3415G>A	c.(3415-3417)Gca>Aca	p.A1139T	CCDC88B_uc009ypo.2_Missense_Mutation_p.A1136T|CCDC88B_uc001oaa.3_Missense_Mutation_p.A291T|CCDC88B_uc001oab.1_5'Flank|CCDC88B_uc001oac.3_5'Flank	NM_032251	NP_115627	A6NC98	CC88B_HUMAN	Homo sapiens coiled-coil domain containing 88B (CCDC88B), mRNA.	1139					microtubule cytoskeleton organization	cytoplasm	microtubule binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GGCCCTGCTGGCAGAGCGTGA	0.677000														27			12		0	0	1	0	0
TM4SF20	79853	broad.mit.edu	37	2	228228534	228228534	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:228228534C>A	uc002vpb.2	-	3	634	c.596G>T	c.(595-597)gGa>gTa	p.G199V		NM_024795	NP_079071	Q53R12	T4S20_HUMAN	Homo sapiens transmembrane 4 L six family member 20 (TM4SF20), mRNA.	199						integral to membrane|plasma membrane				breast(1)|kidney(2)|large_intestine(1)|lung(4)|stomach(2)	10		Renal(207;0.025)|all_lung(227;0.123)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248)		Epithelial(121;3.8e-11)|all cancers(144;2.57e-08)|Lung(261;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0115)		CTCCAGAATTCCAACAAGCAA	0.428000														97			53		1.19403e-26	1.56656e-26	1	1	0
WDR78	79819	broad.mit.edu	37	1	67340464	67340464	+	Splice_Site	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:67340464G>A	uc001dcx.3	-	5	856	c.800_splice	c.e5+1	p.T267_splice	WDR78_uc001dcy.3_Splice_Site_p.T267_splice|WDR78_uc009waw.3_Splice_Site_p.T13_splice|WDR78_uc009wax.3_Intron	NM_024763	NP_079039	Q5VTH9	WDR78_HUMAN	Homo sapiens WD repeat domain 78 (WDR78), transcript variant 1, mRNA.	267										NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						CCATACATACGTTACTTTCTC	0.403000														71			32		0	0	1	0	0
HCAR2	338442	broad.mit.edu	37	12	123186810	123186810	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:123186810C>T	uc001ucx.1	-	0	1095	c.1021G>A	c.(1021-1023)Gct>Act	p.A341T	HCAR1_uc001ucw.1_Intron	NM_177551	NP_808219	Q8TDS4	HCAR2_HUMAN	Homo sapiens hydroxycarboxylic acid receptor 2 (HCAR2), mRNA.	341					negative regulation of lipid catabolic process|neutrophil apoptosis|positive regulation of adiponectin secretion|positive regulation of neutrophil apoptosis	integral to membrane|plasma membrane	nicotinic acid receptor activity|purinergic nucleotide receptor activity, G-protein coupled			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	15					Mepenzolate(DB04843)|Niacin(DB00627)	GCCTCTGGAGCGCCTCTGGTT	0.552000														96			49		0	0	1	0	0
C11orf30	56946	broad.mit.edu	37	11	76183810	76183810	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:76183810C>A	uc001oxl.3	+	7	1177	c.1034C>A	c.(1033-1035)cCt>cAt	p.P345H	C11orf30_uc009yuj.1_Missense_Mutation_p.P360H|C11orf30_uc010rsa.1_Missense_Mutation_p.P295H|C11orf30_uc001oxm.3_Missense_Mutation_p.P346H|C11orf30_uc010rsb.2_Missense_Mutation_p.P360H|C11orf30_uc010rsc.2_Missense_Mutation_p.P360H|C11orf30_uc001oxn.3_Missense_Mutation_p.P346H|C11orf30_uc010rsd.2_Missense_Mutation_p.P359H	NM_020193	NP_064578	Q7Z589	EMSY_HUMAN	Homo sapiens chromosome 11 open reading frame 30 (C11orf30), mRNA.	345	Interaction with BRCA2.|Ser-rich.				DNA repair|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						ACACCATCACCTATTCCTAAT	0.453000														60			5		3.59834e-05	3.95114e-05	1	1	0
PLXNB3	5365	broad.mit.edu	37	X	153037429	153037429	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153037429G>A	uc010nuk.2	+	15	2968	c.2697G>A	c.(2695-2697)cgG>cgA	p.R899R	PLXNB3_uc011mzb.1_3'UTR|PLXNB3_uc011mzc.2_Silent_p.R558R|PLXNB3_uc004fii.2_Silent_p.R876R|PLXNB3_uc011mzd.1_Silent_p.R515R|PLXNB3_uc004fij.1_5'Flank	NM_001163257	NP_001156729	Q9ULL4	PLXB3_HUMAN	Homo sapiens plexin B3 (PLXNB3), transcript variant 2, mRNA.	876	IPT/TIG 1.				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					TGGCCAGCCGGCCCTGCAACC	0.687000														20			20		0	0	1	0	0
RAB14	51552	broad.mit.edu	37	9	123943691	123943691	+	Nonsense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:123943691C>A	uc004blc.3	-	7	1087	c.631G>T	c.(631-633)Gaa>Taa	p.E211*		NM_016322	NP_057406	P61106	RAB14_HUMAN	Homo sapiens RAB14, member RAS oncogene family (RAB14), mRNA.	211					Golgi to endosome transport|embryo development|fibroblast growth factor receptor signaling pathway|neurotransmitter secretion|protein transport|small GTPase mediated signal transduction	Golgi membrane|Golgi stack|cytosol|early endosome membrane|late endosome|lysosome|membrane fraction|nuclear outer membrane-endoplasmic reticulum membrane network|perinuclear region of cytoplasm|rough endoplasmic reticulum|trans-Golgi network transport vesicle	GDP binding|GTP binding|GTPase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5						CCACAGCCTTCTCTCTGGGGT	0.532000														54			6		3.59834e-05	3.95114e-05	1	1	0
MAGI3	260425	broad.mit.edu	37	1	114133192	114133192	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:114133192A>G	uc001edk.3	+	4	1031	c.850A>G	c.(850-852)Aat>Gat	p.N284D	MAGI3_uc001edh.3_Missense_Mutation_p.N284D|MAGI3_uc001edi.4_Missense_Mutation_p.N284D|MAGI3_uc010owm.2_Missense_Mutation_p.N284D|MAGI3_uc001edj.3_Missense_Mutation_p.N5D	NM_001142782	NP_001136254	Q5TCQ9	MAGI3_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 3 (MAGI3), transcript variant 1, mRNA.	284	Guanylate kinase-like.				apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding	p.N284S(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGACTTTAGAAATTATATGAT	0.413000														70			13		0	0	1	0	0
MOCS1	4337	broad.mit.edu	37	6	39881125	39881125	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:39881125G>A	uc003opb.3	-	4	831	c.693C>T	c.(691-693)gaC>gaT	p.D231D	MOCS1_uc003opa.3_Silent_p.D231D|MOCS1_uc003opd.3_Silent_p.D231D|MOCS1_uc003ope.3_Silent_p.D144D	NM_005943	NP_005934	Q9NZB8	MOCS1_HUMAN	Homo sapiens molybdenum cofactor synthesis 1 (MOCS1), transcript variant 1, mRNA.	231	Molybdenum cofactor biosynthesis protein A.				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex|nucleus	4 iron, 4 sulfur cluster binding|GTP binding|catalytic activity|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	21	Ovarian(28;0.0355)|Colorectal(47;0.196)					AGGCCGCAAAGTCCAGGAGTT	0.567000														13			19		0	0	1	0	0
DSG2	1829	broad.mit.edu	37	18	29104816	29104816	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:29104816G>A	uc002kwu.4	+	7	1167	c.979G>A	c.(979-981)Gct>Act	p.A327T		NM_001943	NP_001934	Q14126	DSG2_HUMAN	Homo sapiens desmoglein 2 (DSG2), mRNA.	327	Cadherin 3.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			AGAAACAGATGCTCAAACTAA	0.368000														36			20		0	0	1	0	0
FHOD3	80206	broad.mit.edu	37	18	34322791	34322791	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:34322791C>T	uc021uiv.1	+	21	3948	c.3851C>T	c.(3850-3852)gCc>gTc	p.A1284V	FHOD3_uc002kzs.1_Missense_Mutation_p.A1109V|FHOD3_uc002kzt.1_Missense_Mutation_p.A1092V|FHOD3_uc010dmz.1_Missense_Mutation_p.A824V|FHOD3_uc010dnb.1_Missense_Mutation_p.A88V	NM_025135	NP_079411	Q2V2M9	FHOD3_HUMAN	Homo sapiens formin homology 2 domain containing 3 (FHOD3), mRNA.	1092					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	p.R1284R(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				ACTCTCTTAGCCATTGGGAAC	0.458000														111			61		0	0	1	0	0
FAF2	23197	broad.mit.edu	37	5	175913417	175913417	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:175913417C>A	uc003mej.4	+	2	247	c.194C>A	c.(193-195)cCa>cAa	p.P65Q		NM_014613	NP_055428	Q96CS3	FAF2_HUMAN	Homo sapiens Fas associated factor family member 2 (FAF2), mRNA.	65					response to unfolded protein	endoplasmic reticulum|lipid particle	protein binding			breast(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	10						AACCCACCTCCATCACGACCC	0.493000														48			26		1.66031e-10	2.00663e-10	1	1	0
TRPM3	80036	broad.mit.edu	37	9	73461449	73461449	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:73461449T>C	uc004aid.3	-	3	765	c.521A>G	c.(520-522)gAa>gGa	p.E174G	TRPM3_uc004ahu.3_Missense_Mutation_p.E4G|TRPM3_uc004ahv.3_Missense_Mutation_p.E4G|TRPM3_uc004ahw.3_Missense_Mutation_p.E21G|TRPM3_uc004ahx.3_Missense_Mutation_p.E21G|TRPM3_uc004ahy.3_Missense_Mutation_p.E21G|TRPM3_uc004ahz.3_Missense_Mutation_p.E21G|TRPM3_uc004aia.3_Missense_Mutation_p.E21G|TRPM3_uc004aib.3_Missense_Mutation_p.E21G|TRPM3_uc004aic.3_Missense_Mutation_p.E174G|TRPM3_uc010mor.3_Missense_Mutation_p.E174G|TRPM3_uc004aie.3_Missense_Mutation_p.E21G|TRPM3_uc004aif.3_Missense_Mutation_p.E21G|TRPM3_uc004aig.3_Missense_Mutation_p.E21G|TRPM3_uc004aii.3_Missense_Mutation_p.E176G	NM_001007471	NP_066003	Q9HCF6	TRPM3_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 3 (TRPM3), transcript variant 9, mRNA.	174						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						CAACTGCCATTCCTTGGTCAT	0.478000														79			9		0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36879871	36879871	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:36879871G>A	uc003cgj.3	-	18	5625	c.5377C>T	c.(5377-5379)Ctg>Ttg	p.L1793L		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	1793					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						ACCTTTCCCAGCCTCTCGCAC	0.537000														60			5		0	0	1	0	0
AGBL2	79841	broad.mit.edu	37	11	47707455	47707455	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:47707455G>A	uc001ngg.3	-	10	2080	c.1778C>T	c.(1777-1779)gCa>gTa	p.A593V	AGBL2_uc001ngf.3_Intron|AGBL2_uc010rhq.1_Missense_Mutation_p.A555V|AGBL2_uc001ngh.1_Missense_Mutation_p.A537V	NM_024783	NP_079059	Q5U5Z8	CBPC2_HUMAN	Homo sapiens ATP/GTP binding protein-like 2 (AGBL2), mRNA.	593					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						CTTATCTGGTGCATTTTTGCA	0.358000														99			59		0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77765105	77765105	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:77765105G>A	uc003yau.2	+	9	6335	c.5948G>A	c.(5947-5949)cGt>cAt	p.R1983H	ZFHX4_uc003yaw.1_Missense_Mutation_p.R1938H	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	1938	Pro-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R1983H(4)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AAATTTGCTCGTCAATACAGG	0.458000										HNSCC(33;0.089)				18			13		0	0	1	0	0
RASGRP3	25780	broad.mit.edu	37	2	33747045	33747045	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:33747045G>T	uc002rox.3	+	7	1019	c.392G>T	c.(391-393)aGa>aTa	p.R131I	RASGRP3_uc010ync.2_Missense_Mutation_p.R131I|RASGRP3_uc002roy.3_Missense_Mutation_p.R131I	NM_170672	NP_733772	Q8IV61	GRP3_HUMAN	Homo sapiens RAS guanyl releasing protein 3 (calcium and DAG-regulated) (RASGRP3), transcript variant 2, mRNA.	131					MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	Rap GTPase activator activity|calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|signal transducer activity	p.R131K(1)		large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11	all_hematologic(175;0.115)					TGGATGAGAAGAGTCACACAG	0.438000														86			9		2.17888e-05	2.40634e-05	1	1	0
SLC12A8	84561	broad.mit.edu	37	3	124906141	124906141	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:124906141G>T	uc003ehw.4	-	3	487	c.417C>A	c.(415-417)atC>atA	p.I139I	SLC12A8_uc003ehv.4_Silent_p.I110I|SLC12A8_uc010hrz.1_5'UTR	NM_024628	NP_078904	A0AV02	S12A8_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 8 (SLC12A8), transcript variant 1, mRNA.	110					potassium ion transport	integral to membrane	symporter activity			endometrium(2)|kidney(2)|lung(12)	16						GGACCGAGGAGATCATGGAGT	0.662000														23			16		1.52009e-12	1.87729e-12	1	1	0
ARHGEF19	128272	broad.mit.edu	37	1	16535421	16535421	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:16535421C>A	uc001ayc.1	-	1	266	c.129G>T	c.(127-129)ccG>ccT	p.P43P	ARHGEF19_uc009voo.1_5'Flank	NM_153213	NP_694945	Q8IW93	ARHGJ_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 19 (ARHGEF19), mRNA.	43					regulation of actin cytoskeleton organization	intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)		ACACTGGGCTCGGGGGCTTCA	0.672000														14			12		0.0135373	0.0139797	1	1	0
SETD7	80854	broad.mit.edu	37	4	140454392	140454392	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:140454392G>A	uc003ihw.3	-	2	585	c.299C>T	c.(298-300)aCa>aTa	p.T100I	SETD7_uc003ihx.3_Missense_Mutation_p.T100I	NM_030648	NP_085151	Q8WTS6	SETD7_HUMAN	Homo sapiens SET domain containing (lysine methyltransferase) 7 (SETD7), mRNA.	100					peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	histone-lysine N-methyltransferase activity|p53 binding			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	8	all_hematologic(180;0.156)					TCTCCCATCTGTGTCATATTC	0.507000														59			9		0	0	1	0	0
SLC22A25	387601	broad.mit.edu	37	11	62933548	62933548	+	Missense_Mutation	SNP	G	A	A	rs151029409		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:62933548G>A	uc001nwr.1	-	6	1253	c.1253C>T	c.(1252-1254)aCc>aTc	p.T418I	SLC22A10_uc010rmo.1_Intron|SLC22A25_uc009yoq.1_Non-coding_Transcript|SLC22A25_uc001nws.1_Non-coding_Transcript|SLC22A25_uc001nwt.1_3'UTR	NM_199352	NP_955384	Q6T423	S22AP_HUMAN	Homo sapiens solute carrier family 22, member 25 (SLC22A25), mRNA.	418					transmembrane transport	integral to membrane				NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						CAGAAGGCAGGTTGCCAGTAG	0.493000														33			11		0	0	1	0	0
MMP19	4327	broad.mit.edu	37	12	56236156	56236156	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56236156C>T	uc001sib.3	-	1	275	c.154G>A	c.(154-156)Gat>Aat	p.D52N	MMP19_uc001sia.3_5'Flank|MMP19_uc001sid.3_Non-coding_Transcript|MMP19_uc010spw.2_Missense_Mutation_p.D52N	NM_002429	NP_002420	Q99542	MMP19_HUMAN	Homo sapiens matrix metallopeptidase 19 (MMP19), transcript variant 1, mRNA.	52					angiogenesis|cell differentiation|collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.D52Y(2)		endometrium(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	26						TCGGTGATATCTTCTGGCTTG	0.488000														53			36		0	0	1	0	0
PDILT	204474	broad.mit.edu	37	16	20410477	20410477	+	Missense_Mutation	SNP	G	A	A	rs143235162		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:20410477G>A	uc002dhc.1	-	1	369	c.146C>T	c.(145-147)aCg>aTg	p.T49M		NM_174924	NP_777584	Q8N807	PDILT_HUMAN	Homo sapiens protein disulfide isomerase-like, testis expressed (PDILT), mRNA.	49					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						GCCAGCGGGCGTTAGCACTAG	0.572000														66			48		0	0	1	0	0
ECHS1	1892	broad.mit.edu	37	10	135176413	135176413	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:135176413C>T	uc001lmu.3	-	7	903	c.832G>A	c.(832-834)Gcg>Acg	p.A278T		NM_004092	NP_004083	P30084	ECHM_HUMAN	Homo sapiens enoyl CoA hydratase, short chain, 1, mitochondrial (ECHS1), nuclear gene encoding mitochondrial protein, mRNA.	278					fatty acid beta-oxidation	mitochondrial matrix	enoyl-CoA hydratase activity|protein binding			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|skin(1)	10		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;1.62e-06)|OV - Ovarian serous cystadenocarcinoma(35;5.75e-06)|Epithelial(32;7.58e-06)		TCCACAAACGCGGTCATCCCT	0.542000														43			22		0	0	1	0	0
GIGYF2	26058	broad.mit.edu	37	2	233681620	233681620	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:233681620C>T	uc002vtj.4	+	21	2578	c.2311C>T	c.(2311-2313)Cgg>Tgg	p.R771W	GIGYF2_uc010zmj.1_Missense_Mutation_p.R750W|GIGYF2_uc002vtg.2_Missense_Mutation_p.R744W|GIGYF2_uc002vti.4_Missense_Mutation_p.R750W|GIGYF2_uc002vtk.4_Missense_Mutation_p.R750W|GIGYF2_uc002vth.4_Missense_Mutation_p.R744W|GIGYF2_uc010zmk.2_Non-coding_Transcript|GIGYF2_uc010zml.1_Missense_Mutation_p.R581W|GIGYF2_uc002vtq.4_Missense_Mutation_p.R83W	NM_001103147	NP_001096617	Q6Y7W6	PERQ2_HUMAN	Homo sapiens GRB10 interacting GYF protein 2 (GIGYF2), transcript variant 1, mRNA.	750	Gln-rich.|Glu-rich.				cell death		protein binding	p.R771*(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		GAGGGCAAAACGGGAAGAGGA	0.478000														49			20		0	0	1	0	0
OTUD4	54726	broad.mit.edu	37	4	146067419	146067419	+	Splice_Site	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:146067419G>A	uc003ika.4	-	14	1365	c.1227_splice	c.e14+1	p.S409_splice		NM_001102653	NP_001096123	Q01804	OTUD4_HUMAN	Homo sapiens OTU domain containing 4 (OTUD4), transcript variant 3, mRNA.	473							protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					TCATACATACGGAAAGGGCTG	0.373000														43			16		0	0	1	0	0
CSDE1	7812	broad.mit.edu	37	1	115267955	115267955	+	Splice_Site	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:115267955C>T	uc001efi.3	-	16	2301	c.1779_splice	c.e16-1	p.S593_splice	CSDE1_uc001efj.3_Splice_Site|CSDE1_uc001efk.3_Splice_Site_p.S547_splice|CSDE1_uc001efm.3_Splice_Site_p.S562_splice|CSDE1_uc009wgv.3_Splice_Site_p.S547_splice|CSDE1_uc001efl.3_Splice_Site_p.S516_splice|CSDE1_uc001efn.3_Splice_Site_p.S516_splice	NM_001242891	NP_001229820	O75534	CSDE1_HUMAN	Homo sapiens cold shock domain containing E1, RNA-binding (CSDE1), transcript variant 4, mRNA.	547					male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|RNA binding|protein binding			NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGAGAACTCACTAAGGAGAAA	0.408000														96			8		0	0	1	0	0
RXFP1	59350	broad.mit.edu	37	4	159569700	159569700	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:159569700G>A	uc003ipz.3	+	16	2069	c.1806G>A	c.(1804-1806)atG>atA	p.M602I	RXFP1_uc010iqk.3_Missense_Mutation_p.M470I|RXFP1_uc011cja.2_Missense_Mutation_p.M497I|RXFP1_uc010iqo.3_Missense_Mutation_p.M554I|RXFP1_uc011cjb.2_Missense_Mutation_p.M500I|RXFP1_uc011cjc.2_Missense_Mutation_p.M521I|RXFP1_uc011cjd.2_Missense_Mutation_p.M521I|RXFP1_uc010iql.3_Missense_Mutation_p.M446I|RXFP1_uc011cje.2_Missense_Mutation_p.M629I|RXFP1_uc010iqm.3_Missense_Mutation_p.M569I|RXFP1_uc011cjf.2_Missense_Mutation_p.M471I|RXFP1_uc010iqn.3_Missense_Mutation_p.M547I	NM_021634	NP_067647	Q9HBX9	RXFP1_HUMAN	Homo sapiens relaxin/insulin-like family peptide receptor 1 (RXFP1), transcript variant 1, mRNA.	602						integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		ATGGAAGCATGTTTTATAGTG	0.289000														46			20		0	0	1	0	0
CAPN9	10753	broad.mit.edu	37	1	230895265	230895265	+	Nonsense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:230895265C>A	uc001htz.1	+	2	404	c.291C>A	c.(289-291)tgC>tgA	p.C97*	CAPN9_uc009xfg.1_Intron|CAPN9_uc001hua.1_Nonsense_Mutation_p.C97*	NM_006615	NP_006606	O14815	CAN9_HUMAN	Homo sapiens calpain 9 (CAPN9), transcript variant 1, mRNA.	97	Calpain catalytic.				digestion|proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)				CAGGAGACTGCTGGCTATTAG	0.478000														35			34		6.70999e-13	8.30224e-13	1	1	0
BFSP1	631	broad.mit.edu	37	20	17475209	17475209	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:17475209G>T	uc002wpo.3	-	7	1547	c.1508C>A	c.(1507-1509)tCt>tAt	p.S503Y	BFSP1_uc002wpp.3_Missense_Mutation_p.S378Y|BFSP1_uc010zrn.2_Missense_Mutation_p.S364Y|BFSP1_uc010zro.2_Missense_Mutation_p.S364Y	NM_001195	NP_001186	Q12934	BFSP1_HUMAN	Homo sapiens beaded filament structural protein 1, filensin (BFSP1), transcript variant 1, mRNA.	503	Tail.					cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)|stomach(1)	18						ATAAAGCACAGAGTCTTCCGC	0.547000														17			14		6.31663e-08	7.34157e-08	1	1	0
CACNA1F	778	broad.mit.edu	37	X	49062226	49062226	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:49062226C>T	uc004dnb.3	-	46	5615	c.5553G>A	c.(5551-5553)ccG>ccA	p.P1851P	CACNA1F_uc010nip.3_Silent_p.P1840P	NM_005183	NP_005174	O60840	CAC1F_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1F subunit (CACNA1F), mRNA.	1851					axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	CCAACAACAGCGGGGCATACA	0.627000														6			6		0	0	1	0	0
KIAA0913	23053	broad.mit.edu	37	10	75558185	75558185	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:75558185C>T	uc001jvj.3	+	19	4390	c.4135C>T	c.(4135-4137)Cgg>Tgg	p.R1379W	KIAA0913_uc001jve.3_Missense_Mutation_p.R1384W|KIAA0913_uc009xrl.3_Missense_Mutation_p.R1379W|KIAA0913_uc001jvf.3_Missense_Mutation_p.R1379W|KIAA0913_uc001jvh.3_Non-coding_Transcript|KIAA0913_uc001jvi.3_Missense_Mutation_p.R814W|KIAA0913_uc010qkr.2_Missense_Mutation_p.R802W|KIAA0913_uc009xrn.2_5'Flank	NM_001242488	NP_001229417	A7E2V4	K0913_HUMAN	Homo sapiens KIAA0913 (KIAA0913), transcript variant 3, mRNA.	1379							zinc ion binding	p.R1379W(1)|p.R1384W(1)|p.R764W(1)		breast(3)|cervix(1)|endometrium(6)|kidney(3)|lung(6)	19	Prostate(51;0.0112)					TGAGATCCAGCGGGCCCTGGT	0.597000														20			12		0	0	1	0	0
MYO9B	4650	broad.mit.edu	37	19	17322563	17322563	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:17322563C>T	uc010eak.3	+	38	6190	c.6038C>T	c.(6037-6039)gCc>gTc	p.A2013V	MYO9B_uc002nfi.3_Missense_Mutation_p.A2013V|MYO9B_uc002nfm.1_Missense_Mutation_p.A173V	NM_004145	NP_004136	Q13459	MYO9B_HUMAN	Homo sapiens myosin IXB (MYO9B), transcript variant 1, mRNA.	2013	Tail.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	ADP binding|ATP binding|ATPase activity|Rho GTPase activator activity|actin binding|calmodulin binding|metal ion binding|microfilament motor activity			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						GAGGAGCGGGCCGGGCGGGGG	0.687000														19			15		0	0	1	0	0
VPS13C	54832	broad.mit.edu	37	15	62199548	62199548	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:62199548C>T	uc002agz.3	-	65	9111	c.9020G>A	c.(9019-9021)cGa>cAa	p.R3007Q	VPS13C_uc002aha.3_Missense_Mutation_p.R2964Q|VPS13C_uc002ahb.2_Missense_Mutation_p.R3007Q|VPS13C_uc002ahc.2_Missense_Mutation_p.R2964Q|VPS13C_uc002ahd.1_Missense_Mutation_p.R384Q	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog C (S. cerevisiae) (VPS13C), transcript variant 2A, mRNA.	3007					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						GGCAAAAAGTCGAGCCTGTCT	0.418000														45			29		0	0	1	0	0
EFHA2	286097	broad.mit.edu	37	8	16956025	16956025	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:16956025G>A	uc003wxd.2	+	8	989	c.947G>A	c.(946-948)cGt>cAt	p.R316H		NM_181723	NP_859074	Q86XE3	EFHA2_HUMAN	Homo sapiens EF-hand domain family, member A2 (EFHA2), mRNA.	316						integral to membrane	calcium ion binding	p.R316H(2)|p.R316G(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(1)|skin(4)	23				Colorectal(111;0.0686)|COAD - Colon adenocarcinoma(73;0.239)		ACACTGAGACGTAACACAAGC	0.388000														121			73		0	0	1	0	0
DNAJC14	85406	broad.mit.edu	37	12	56222254	56222254	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56222254C>A	uc001shu.2	-	0	245	c.189G>T	c.(187-189)caG>caT	p.Q63H	DNAJC14_uc001shx.1_Missense_Mutation_p.Q63H|DNAJC14_uc009zob.1_Missense_Mutation_p.Q63H|DNAJC14_uc001shy.1_Missense_Mutation_p.Q63H	NM_032364	NP_115740	Q6Y2X3	DJC14_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 14 (DNAJC14), mRNA.	63					protein folding|protein transport	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|unfolded protein binding			breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1)	23						GGTTTGGGTGCTGTGTGTGCT	0.577000														122			13		0.411799	0.413048	1	1	0
AKT2	208	broad.mit.edu	37	19	40744860	40744860	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:40744860C>T	uc002onf.3	-	7	959	c.660G>A	c.(658-660)caG>caA	p.Q220Q	AKT2_uc010egs.3_Silent_p.Q220Q|AKT2_uc010xvj.2_Silent_p.Q158Q|AKT2_uc010egt.3_Silent_p.Q158Q|AKT2_uc010egu.2_Silent_p.Q158Q|AKT2_uc002one.3_Silent_p.Q116Q	NM_001626	NP_001229957	P31751	AKT2_HUMAN	Homo sapiens v-akt murine thymoma viral oncogene homolog 2 (AKT2), transcript variant 1, mRNA.	220	Protein kinase.				insulin receptor signaling pathway|negative regulation of plasma membrane long-chain fatty acid transport|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|cervix(1)|kidney(3)|large_intestine(9)|lung(10)|prostate(2)|skin(1)	27			Lung(22;0.000499)			GGTCGTGGGTCTGGAAGGCAT	0.652000			A		"""ovarian, pancreatic """									33			26		0	0	1	0	0
SLCO4A1	28231	broad.mit.edu	37	20	61292446	61292446	+	Missense_Mutation	SNP	C	T	T	rs142725476		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:61292446C>T	uc002ydb.1	+	4	1245	c.1040C>T	c.(1039-1041)gCg>gTg	p.A347V		NM_016354	NP_057438	Q96BD0	SO4A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 4A1 (SLCO4A1), mRNA.	347					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2)	21	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;2.33e-06)			ATGAGAGCGGCGGAAATGCAC	0.647000														43			24		0	0	1	0	0
THBS1	7057	broad.mit.edu	37	15	39883813	39883813	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:39883813A>G	uc001zkh.3	+	15	2700	c.2521A>G	c.(2521-2523)Aat>Gat	p.N841D	THBS1_uc010bbi.3_Missense_Mutation_p.N313D	NM_003246	NP_003237	P07996	TSP1_HUMAN	Homo sapiens thrombospondin 1 (THBS1), mRNA.	841					activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of cGMP-mediated signaling|negative regulation of caspase activity|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	CTTGGAACACAATCCGGATCA	0.453000														61			40		0	0	1	0	0
SLC22A3	6581	broad.mit.edu	37	6	160829798	160829798	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:160829798A>G	uc003qti.3	+	3	729	c.702A>G	c.(700-702)gtA>gtG	p.V234V	SLC22A3_uc011efx.2_Non-coding_Transcript	NM_021977	NP_068812	O75751	S22A3_HUMAN	Homo sapiens solute carrier family 22 (extraneuronal monoamine transporter), member 3 (SLC22A3), mRNA.	234						integral to plasma membrane|membrane fraction	protein binding|quaternary ammonium group transmembrane transporter activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218)		OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06)		CAGAAATAGTAGGTTCGAAAC	0.403000														53			4		0	0	1	0	0
POLD2	5425	broad.mit.edu	37	7	44156081	44156081	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:44156081G>A	uc010kxz.3	-	7	1459	c.809C>T	c.(808-810)gCa>gTa	p.A270V	POLD2_uc010kya.3_Missense_Mutation_p.A270V|POLD2_uc003tkf.4_Missense_Mutation_p.A270V	NM_006230	NP_006221	P49005	DPOD2_HUMAN	Homo sapiens polymerase (DNA directed), delta 2, regulatory subunit 50kDa (POLD2), transcript variant 2, mRNA.	270					DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle|base-excision repair|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	12						CACGCTGGCTGCCTGGGTTTT	0.592000														9			7		0	0	1	0	0
SMEK1	55671	broad.mit.edu	37	14	91948197	91948197	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:91948197G>A	uc001xzn.3	-	3	1460	c.638C>T	c.(637-639)tCt>tTt	p.S213F	SMEK1_uc001xzm.3_Missense_Mutation_p.S213F|SMEK1_uc001xzo.3_Missense_Mutation_p.S213F|SMEK1_uc010atz.3_Intron|SMEK1_uc001xzp.1_Non-coding_Transcript|SMEK1_uc001xzq.1_Missense_Mutation_p.S89F	NM_032560	NP_115949	Q6IN85	P4R3A_HUMAN	Homo sapiens SMEK homolog 1, suppressor of mek1 (Dictyostelium) (SMEK1), mRNA.	213						microtubule organizing center|nucleus	protein binding			NS(1)|endometrium(1)|kidney(1)|liver(1)|lung(1)|stomach(1)	6		all_cancers(154;0.0691)|all_epithelial(191;0.219)		COAD - Colon adenocarcinoma(157;0.221)		ACATTCTTCAGAGAACATAAC	0.348000														48			26		0	0	1	0	0
GYG2	8908	broad.mit.edu	37	X	2779761	2779761	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:2779761G>T	uc004cqs.1	+	8	1411	c.1129G>T	c.(1129-1131)Gat>Tat	p.D377Y	GYG2_uc004cqu.1_Missense_Mutation_p.D346Y|GYG2_uc004cqx.2_Missense_Mutation_p.D377Y|GYG2_uc004cqt.1_Missense_Mutation_p.D346Y|GYG2_uc004cqv.1_Missense_Mutation_p.D191Y|GYG2_uc004cqw.1_Missense_Mutation_p.D337Y|GYG2_uc010ndc.1_Missense_Mutation_p.D191Y	NM_003918	NP_003909	O15488	GLYG2_HUMAN	Homo sapiens glycogenin 2 (GYG2), transcript variant 2, mRNA.	377					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|soluble fraction	glycogenin glucosyltransferase activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CCGTTCAGAAGATGTAAGTAC	0.582000														6			6		0.248553	0.249802	1	1	0
MYH3	4621	broad.mit.edu	37	17	10543493	10543493	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:10543493G>T	uc002gmq.2	-	21	2590	c.2502C>A	c.(2500-2502)ttC>ttA	p.F834L		NM_002470	NP_002461	P11055	MYH3_HUMAN	Homo sapiens myosin, heavy chain 3, skeletal muscle, embryonic (MYH3), mRNA.	834					muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						TGATCTTGAAGAAGAGTTTCA	0.458000														60			48		2.77807e-22	3.60736e-22	1	1	0
FBXL20	84961	broad.mit.edu	37	17	37455300	37455300	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:37455300C>T	uc002hrt.3	-	4	526	c.272G>A	c.(271-273)gGc>gAc	p.G91D	FBXL20_uc010cvu.3_Missense_Mutation_p.G91D	NM_032875	NP_116264	Q96IG2	FXL20_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 20 (FBXL20), transcript variant 1, mRNA.	91						cytoplasm				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22			LUAD - Lung adenocarcinoma(14;0.146)			TCGTAAAAAGCCCCCACATCG	0.373000														63			29		0	0	1	0	0
KIAA1432	57589	broad.mit.edu	37	9	5747416	5747416	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:5747416A>G	uc003zjl.4	+	11	1554	c.1363A>G	c.(1363-1365)Agt>Ggt	p.S455G	KIAA1432_uc003zjh.3_Missense_Mutation_p.S376G|KIAA1432_uc003zji.3_Missense_Mutation_p.S376G|KIAA1432_uc003zjj.1_5'UTR	NM_001206557	NP_001193486	Q4ADV7	RIC1_HUMAN	Homo sapiens KIAA1432 (KIAA1432), transcript variant 3, mRNA.	455						integral to membrane				breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		GCATAAGCCCAGTCGAGAAAA	0.468000														54			18		0	0	1	0	0
MYO7B	4648	broad.mit.edu	37	2	128391772	128391772	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:128391772A>G	uc002top.3	+	39	5508	c.5455A>G	c.(5455-5457)Aca>Gca	p.T1819A	MYO7B_uc002tos.2_5'Flank	NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN	Homo sapiens myosin VIIB (MYO7B), mRNA.	1819	FERM 2.|MyTH4 3.					apical plasma membrane|myosin complex	ATP binding|actin binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		GGTTGCCAACACACGGGTGCG	0.637000														4			6		0	0	1	0	0
C11orf16	56673	broad.mit.edu	37	11	8948649	8948649	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:8948649G>A	uc001mhb.4	-	3	521	c.397C>T	c.(397-399)Cag>Tag	p.Q133*	C11orf16_uc001mhc.4_Nonsense_Mutation_p.Q133*	NM_020643	NP_065694	Q9NQ32	CK016_HUMAN	Homo sapiens chromosome 11 open reading frame 16 (C11orf16), mRNA.	133										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	22				Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234)		ACTCTCTGCTGCTGGGCTGGC	0.547000														32			17		0	0	1	0	0
C12orf56	115749	broad.mit.edu	37	12	64746765	64746765	+	Silent	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:64746765A>C	uc021qzu.1	-	1	324	c.324T>G	c.(322-324)tcT>tcG	p.S108S	BC042855_uc001srx.3_Intron|C12orf56_uc001ssa.4_Silent_p.S108S	NM_001170633	NP_001164104	Q8IXR9	CL056_HUMAN	Homo sapiens chromosome 12 open reading frame 56 (C12orf56), transcript variant 1, mRNA.	108										NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)	15			GBM - Glioblastoma multiforme(3;0.000582)	GBM - Glioblastoma multiforme(28;0.0259)		AAACGGTTGAAGAATAGATGA	0.338000														57			5		0	0	1	0	0
TRIM46	80128	broad.mit.edu	37	1	155152225	155152225	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155152225G>A	uc001fhs.1	+	7	1486	c.1403G>A	c.(1402-1404)cGc>cAc	p.R468H	TRIM46_uc009wpe.1_Non-coding_Transcript|TRIM46_uc001fhq.3_Non-coding_Transcript|TRIM46_uc001fhr.3_Missense_Mutation_p.R468H|TRIM46_uc001fht.1_Non-coding_Transcript|TRIM46_uc010pfa.1_Missense_Mutation_p.R342H|TRIM46_uc001fhu.1_Missense_Mutation_p.R445H|TRIM46_uc009wpg.1_Missense_Mutation_p.R455H|TRIM46_uc001fhw.1_Non-coding_Transcript	NM_025058	NP_079334	Q7Z4K8	TRI46_HUMAN	Homo sapiens tripartite motif containing 46 (TRIM46), mRNA.	468	Fibronectin type-III.					intracellular	zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GAGTTCCGGCGCACGGATGTG	0.652000														17			8		0	0	1	0	0
NANOS2	339345	broad.mit.edu	37	19	46417729	46417729	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:46417729C>T	uc002pdu.3	-	0	308	c.223G>A	c.(223-225)Gtc>Atc	p.V75I		NM_001029861	NP_001025032	P60321	NANO2_HUMAN	Homo sapiens nanos homolog 2 (Drosophila) (NANOS2), mRNA.	75					germ-line stem cell maintenance|mRNA catabolic process|multicellular organismal development|negative regulation of meiosis|regulation of translation|spermatogenesis	cytoplasmic mRNA processing body|perinuclear region of cytoplasm	RNA binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)	6		Ovarian(192;0.0308)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0668)|Epithelial(262;0.231)		GAGGAGTAGACGTGGCGGGAC	0.687000														19			7		0	0	1	0	0
ATP11C	286410	broad.mit.edu	37	X	138882243	138882243	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:138882243C>A	uc004faz.3	-	7	794	c.695G>T	c.(694-696)aGt>aTt	p.S232I	ATP11C_uc004fay.3_5'Flank|ATP11C_uc004fba.3_Missense_Mutation_p.S232I	NM_173694	NP_775965	Q8NB49	AT11C_HUMAN	Homo sapiens ATPase, class VI, type 11C (ATP11C), transcript variant 1, mRNA.	232					ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					AAGACTATTACTGTAGATATT	0.363000														61			4		0.00909568	0.00940365	1	1	0
TLL1	7092	broad.mit.edu	37	4	166964527	166964527	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:166964527G>T	uc003irh.2	+	11	2127	c.1480G>T	c.(1480-1482)Gtg>Ttg	p.V494L	TLL1_uc011cjn.2_Missense_Mutation_p.V494L|TLL1_uc011cjo.2_Missense_Mutation_p.V318L	NM_012464	NP_036596	O43897	TLL1_HUMAN	Homo sapiens tolloid-like 1 (TLL1), transcript variant 1, mRNA.	494	CUB 2.				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			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)		GAAAATAACAGTGTCTGAGAG	0.433000														133			10		9.70103e-10	1.16071e-09	1	1	0
IPO7	10527	broad.mit.edu	37	11	9451283	9451283	+	Nonsense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:9451283G>T	uc001mho.3	+	14	1796	c.1654G>T	c.(1654-1656)Gaa>Taa	p.E552*		NM_006391	NP_006382	O95373	IPO7_HUMAN	Homo sapiens importin 7 (IPO7), mRNA.	552					interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	Ran GTPase binding|protein transporter activity|small GTPase regulator activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		CATTATAAGAGAAACAGAAAA	0.343000														30			22		8.04996e-18	1.02859e-17	1	1	0
COL24A1	255631	broad.mit.edu	37	1	86200457	86200457	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:86200457G>T	uc001dlj.3	-	58	5048	c.4973C>A	c.(4972-4974)cCt>cAt	p.P1658H	COL24A1_uc001dli.3_Missense_Mutation_p.P773H|COL24A1_uc010osf.2_Non-coding_Transcript|COL24A1_uc010osd.2_Missense_Mutation_p.P958H|COL24A1_uc001dlk.3_Non-coding_Transcript|COL24A1_uc010ose.2_Non-coding_Transcript	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN	Homo sapiens collagen, type XXIV, alpha 1 (COL24A1), mRNA.	1658	Fibrillar collagen NC1.				cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		AAGCACTTTAGGTTCAAGTAG	0.363000														215			16		1.67942e-08	1.97205e-08	1	1	0
NFKB1	4790	broad.mit.edu	37	4	103537625	103537625	+	Silent	SNP	C	T	T	rs113109405		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:103537625C>T	uc011ceq.2	+	23	3248	c.2781C>T	c.(2779-2781)agC>agT	p.S927S	NFKB1_uc011cep.2_Silent_p.S928S|NFKB1_uc011cer.2_Silent_p.S747S	NM_001165412	NP_001158884	P19838	NFKB1_HUMAN	Homo sapiens nuclear factor of kappa light polypeptide gene enhancer in B-cells 1 (NFKB1), transcript variant 2, mRNA.	927	Interaction with CFLAR.			S -> T (in Ref. 1; AAA36361, 3; AAA36360 and 4; CAB94757).	MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T cell receptor signaling pathway|Toll signaling pathway|anti-apoptosis|apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|membrane protein intracellular domain proteolysis|negative regulation of calcidiol 1-monooxygenase activity|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of transcription, DNA-dependent|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter	I-kappaB/NF-kappaB complex|cytosol|mitochondrion|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	p.D927N(1)		biliary_tract(1)|breast(4)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	Dexamethasone(DB01234)|Pranlukast(DB01411)|Thalidomide(DB01041)	TCTGCGACAGCGGCGTGGAGA	0.532000														48			23		0	0	1	0	0
KRT17	3872	broad.mit.edu	37	17	39777845	39777845	+	Splice_Site	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:39777845C>A	uc002hxh.2	-	4	955	c.834_splice	c.e4+1	p.K278_splice	JUP_uc010wfs.2_Intron	NM_000422	NP_000413	Q04695	K1C17_HUMAN	Homo sapiens keratin 17 (KRT17), mRNA.	278	Coil 2.|Rod.				epidermis development	cytoplasm|intermediate filament	protein binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	12		Breast(137;0.000307)				CACCCCCCACCTTGCTGAAGA	0.607000														64			5		1	1	1	1	0
AR	367	broad.mit.edu	37	X	66766152	66766152	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:66766152G>A	uc004dwu.2	+	0	2279	c.1164G>A	c.(1162-1164)aaG>aaA	p.K388K	AR_uc011mpd.2_Silent_p.K388K|AR_uc011mpe.1_Non-coding_Transcript|AR_uc011mpf.1_Silent_p.K388K|AR_uc022byj.1_Non-coding_Transcript|AR_uc022byk.1_Silent_p.K388K	NM_000044	NP_000035	P10275	ANDR_HUMAN	Homo sapiens androgen receptor (AR), transcript variant 1, mRNA.	386	Modulating.				cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)	CTCGCATCAAGCTGGAGAACC	0.711000									Androgen Insensitivity Syndrome					2			3		0	0	1	0	0
NPAT	4863	broad.mit.edu	37	11	108068110	108068110	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:108068110C>T	uc001pjz.4	-	1	177	c.75G>A	c.(73-75)caG>caA	p.Q25Q		NM_002519	NP_002510	Q14207	NPAT_HUMAN	Homo sapiens nuclear protein, ataxia-telangiectasia locus (NPAT), mRNA.	25	Interaction with MIZF.|LisH.|Required for activation of histone gene transcription and interaction with MIZF.				positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		AAATAAAAGTCTGGCAGGTAG	0.313000														85			38		0	0	1	0	0
C22orf29	79680	broad.mit.edu	37	22	19839537	19839537	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:19839537G>T	uc002zqg.3	-	1	847	c.248C>A	c.(247-249)gCt>gAt	p.A83D	GNB1L_uc002zqf.1_Intron|C22orf29_uc002zqh.3_Missense_Mutation_p.A83D|C22orf29_uc002zqi.3_Missense_Mutation_p.A83D|C22orf29_uc021wli.1_Missense_Mutation_p.A83D	NM_024627	NP_078903	Q7L3V2	CV029_HUMAN	Homo sapiens chromosome 22 open reading frame 29 (C22orf29), mRNA.	83										NS(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	7	Colorectal(54;0.0993)					CATGTGCCCAGCTAGGGGACC	0.632000														60			6		2.7689e-08	3.24273e-08	1	1	0
ANKRD20A11P	391267	broad.mit.edu	37	21	15326399	15326399	+	RNA	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:15326399C>T	uc002yji.2	-	1		c.816G>A								Homo sapiens ankyrin repeat domain 20 family, member A11, pseudogene (ANKRD20A11P), non-coding RNA.																		TCTCCTTTTCCATTGACTATT	0.448000														50			30		0	0	1	0	0
CD93	22918	broad.mit.edu	37	20	23065073	23065073	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:23065073A>G	uc002wsv.3	-	0	1905	c.1757T>C	c.(1756-1758)aTc>aCc	p.I586T		NM_012072	NP_036204	Q9NPY3	C1QR1_HUMAN	Homo sapiens CD93 molecule (CD93), mRNA.	586					cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GGTGCCTAGGATGTAGAATAA	0.597000														103			29		0	0	1	0	0
C1orf9	51430	broad.mit.edu	37	1	172547524	172547524	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:172547524A>G	uc001giq.4	+	13	1743	c.1427A>G	c.(1426-1428)gAc>gGc	p.D476G	C1orf9_uc010pmm.1_Missense_Mutation_p.D476G|C1orf9_uc009wwd.3_Missense_Mutation_p.D432G|C1orf9_uc010pmn.2_Missense_Mutation_p.D439G|C1orf9_uc010pmo.2_Non-coding_Transcript	NM_014283	NP_055098	Q9UBS9	OSPT_HUMAN	Homo sapiens chromosome 1 open reading frame 9 (C1orf9), transcript variant 1, mRNA.	476					multicellular organismal development|ossification	integral to membrane|rough endoplasmic reticulum membrane				breast(1)|endometrium(5)|large_intestine(10)|lung(14)|ovary(2)|skin(2)|urinary_tract(1)	35		Breast(1374;0.212)		Colorectal(1306;3.98e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00544)		TTTGATGAGGACTATGGTAAG	0.343000														35			28		0	0	1	0	0
VEZF1	7716	broad.mit.edu	37	17	56060664	56060664	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:56060664G>T	uc002ivf.1	-	1	267	c.124C>A	c.(124-126)Cca>Aca	p.P42T	VEZF1_uc010dcn.1_5'UTR	NM_007146	NP_009077	Q14119	VEZF1_HUMAN	Homo sapiens vascular endothelial zinc finger 1 (VEZF1), mRNA.	42					cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						GGAAGCAATGGTTTCTGATCA	0.473000														153			9		3.09899e-07	3.55757e-07	1	1	0
PLCD3	113026	broad.mit.edu	37	17	43190527	43190527	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:43190527G>A	uc002iib.3	-	13	2205	c.2091C>T	c.(2089-2091)gaC>gaT	p.D697D		NM_133373	NP_588614	Q8N3E9	PLCD3_HUMAN	Homo sapiens phospholipase C, delta 3 (PLCD3), mRNA.	698	C2.				intracellular signal transduction|lipid catabolic process	cleavage furrow|cytoplasm|membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	p.P696P(1)		breast(2)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	17					Phosphatidylserine(DB00144)	GCCGGGCACAGTCTGCGGGCA	0.627000														5			5		0	0	1	0	0
HDAC5	10014	broad.mit.edu	37	17	42168789	42168789	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:42168789C>T	uc002iff.1	-	10	1571	c.1239G>A	c.(1237-1239)acG>acA	p.T413T	HDAC5_uc002ifd.1_Silent_p.T412T|HDAC5_uc002ife.1_Silent_p.T412T|HDAC5_uc010czp.1_Silent_p.T412T|HDAC5_uc002ifh.2_Silent_p.T412T	NM_001015053	NP_001015053	Q9UQL6	HDAC5_HUMAN	Homo sapiens histone deacetylase 5 (HDAC5), transcript variant 3, mRNA.	412					B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity (H3-K16 specific)|protein kinase C binding|repressing transcription factor binding			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.118)		TGCCGGTCAGCGTGCCACCCT	0.682000														21			7		0	0	1	0	0
EDEM2	55741	broad.mit.edu	37	20	33703440	33703440	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:33703440G>A	uc002xbo.2	-	10	1633	c.1533C>T	c.(1531-1533)agC>agT	p.S511S	EDEM2_uc010zus.1_Silent_p.S290S|EDEM2_uc002xbq.2_Silent_p.S474S|EDEM2_uc010zut.1_Silent_p.S470S|EDEM2_uc002xbn.2_Silent_p.S359S|EDEM2_uc010zuu.1_Silent_p.S235S	NM_018217	NP_060687	Q9BV94	EDEM2_HUMAN	Homo sapiens ER degradation enhancer, mannosidase alpha-like 2 (EDEM2), transcript variant 1, mRNA.	511				S -> C (in Ref. 1; BAA91806).	post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	22			BRCA - Breast invasive adenocarcinoma(18;0.00936)			ATTTCGACCTGCTCCGTTTGA	0.552000														176			16		0	0	1	0	0
NDUFS2	4720	broad.mit.edu	37	1	161179310	161179310	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:161179310C>T	uc001fyv.3	+	5	1000	c.552C>T	c.(550-552)atC>atT	p.I184I	NDUFS2_uc010pki.2_Silent_p.I86I|NDUFS2_uc001fyw.3_Silent_p.I184I|NDUFS2_uc010pkj.2_Silent_p.I133I	NM_004550	NP_004541	O75306	NDUS2_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase) (NDUFS2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	184					mitochondrial electron transport, NADH to ubiquinone|response to oxidative stress|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|NAD binding|NADH dehydrogenase (ubiquinone) activity|electron carrier activity|metal ion binding|protein binding|quinone binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)	18	all_cancers(52;1.16e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		NADH(DB00157)	TGAACCACATCATGGCTGTGA	0.512000											OREG0013941	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		29			14		0	0	1	0	0
NOP56	10528	broad.mit.edu	37	20	2634034	2634034	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:2634034C>A	uc002wgh.3	+	2	332	c.203C>A	c.(202-204)tCt>tAt	p.S68Y	NOP56_uc010zpy.2_Non-coding_Transcript|NOP56_uc002wgi.3_5'UTR|SNORD110_uc002wgj.3_5'Flank|SNORA51_uc002wgk.1_5'Flank	NM_006392	NP_006383	O00567	NOP56_HUMAN	Homo sapiens NOP56 ribonucleoprotein homolog (yeast) (NOP56), transcript variant 1, mRNA.	68					rRNA processing	box C/D snoRNP complex|pre-snoRNP complex	protein binding|snoRNA binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25						AACGCCGTGTCTGAAGGTAAG	0.542000														37			35		4.11147e-13	5.10659e-13	1	1	0
IGHG1	3500	broad.mit.edu	37	14	106208418	106208418	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:106208418T>C	uc001yse.3	-	3	526	c.80A>G	c.(79-81)tAc>tGc	p.Y27C	abParts_uc021ser.1_Non-coding_Transcript|DKFZp686O16217_uc001yrs.3_Intron|DKFZp686O16217_uc001yrt.3_Intron|IGHE_uc001yrw.1_Intron|IGHE_uc001yrx.2_Intron|IGHE_uc001yrz.2_Intron					RecName: Full=Ig gamma-1 chain C region;																		GCCGTCCACGTACCAGTTGAA	0.597000														104			66		0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132537755	132537755	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:132537755G>A	uc001ujn.3	+	41	7611	c.7459G>A	c.(7459-7461)Gca>Aca	p.A2487T	EP400_uc021rgq.1_Missense_Mutation_p.A2486T|EP400_uc001ujm.3_Missense_Mutation_p.A2406T	NM_015409	NP_056224	Q96L91	EP400_HUMAN	Homo sapiens E1A binding protein p400 (EP400), mRNA.	2523					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		AGAGCGAATCGCAAAAGAGAA	0.537000														46			28		0	0	1	0	0
NCL	4691	broad.mit.edu	37	2	232325433	232325433	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:232325433T>C	uc002vru.3	-	3	899	c.758A>G	c.(757-759)gAt>gGt	p.D253G	SNORD82_uc010fxw.1_5'Flank	NM_005381	NP_005372	P19338	NUCL_HUMAN	Homo sapiens nucleolin (NCL), mRNA.	253	Asp/Glu-rich (acidic).				angiogenesis	cell cortex|nucleolus|ribonucleoprotein complex	RNA binding|nucleotide binding|protein C-terminus binding|telomeric DNA binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3)	35		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)		atcatcttcatcatcttcgtc	0.428000														66			33		0	0	1	0	0
COG5	10466	broad.mit.edu	37	7	106871105	106871105	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:106871105C>T	uc003vec.2	-	18	2741	c.2216G>A	c.(2215-2217)cGa>cAa	p.R739Q	COG5_uc003ved.2_Missense_Mutation_p.R718Q|COG5_uc003vee.2_Missense_Mutation_p.R739Q	NM_006348	NP_006339	Q9UP83	COG5_HUMAN	Homo sapiens component of oligomeric golgi complex 5 (COG5), transcript variant 1, mRNA.	718					intra-Golgi vesicle-mediated transport|protein transport	Golgi membrane|Golgi transport complex|cytosol|nucleus	protein binding	p.R739L(2)		breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						ATCAGATACTCGTCTACAGAA	0.388000														214			18		0	0	1	0	0
NLRC4	58484	broad.mit.edu	37	2	32474692	32474692	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:32474692C>T	uc002roi.3	-	3	2502	c.2241G>A	c.(2239-2241)caG>caA	p.Q747Q	NLRC4_uc021vfq.1_Silent_p.Q747Q|NLRC4_uc002roj.2_Silent_p.Q747Q|NLRC4_uc010ezt.2_Intron	NM_001199138	NP_001186067	Q9NPP4	NLRC4_HUMAN	Homo sapiens NLR family, CARD domain containing 4 (NLRC4), transcript variant 2, mRNA.	747					activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					GCCGTTGATTCTGTAGGTCAT	0.393000														138			84		0	0	1	0	0
CSF1R	1436	broad.mit.edu	37	5	149439387	149439387	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:149439387C>T	uc003lrl.3	-	13	2203	c.2008G>A	c.(2008-2010)Gac>Aac	p.D670N	CSF1R_uc011dcd.2_Intron|CSF1R_uc010jhc.3_Intron|CSF1R_uc003lrm.3_Missense_Mutation_p.D670N	NM_005211	NP_005202	P07333	CSF1R_HUMAN	Homo sapiens colony stimulating factor 1 receptor (CSF1R), mRNA.	670	Protein kinase.				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	TTGAGCAGGTCGCCATAGCAA	0.612000														38			19		0	0	1	0	0
ZNF2	7549	broad.mit.edu	37	2	95843352	95843352	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:95843352T>C	uc002suf.3	+	2	620	c.158T>C	c.(157-159)tTg>tCg	p.L53S	ZNF2_uc002sug.3_Missense_Mutation_p.L11S|ZNF2_uc010yue.2_Missense_Mutation_p.L53S|ZNF2_uc010fhs.3_Missense_Mutation_p.L11S	NM_021088	NP_066574	Q9BSG1	ZNF2_HUMAN	Homo sapiens zinc finger protein 2 (ZNF2), transcript variant 1, mRNA.	53	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	12		Ovarian(717;0.00768)		READ - Rectum adenocarcinoma(193;0.0222)		ATTGTGTCATTGGGTAAGGGG	0.517000														43			36		0	0	1	0	0
LYST	1130	broad.mit.edu	37	1	235969487	235969487	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:235969487C>T	uc001hxj.2	-	5	3124	c.2949G>A	c.(2947-2949)agG>agA	p.R983R	LYST_uc009xgb.1_Non-coding_Transcript|LYST_uc010pxs.1_Non-coding_Transcript|LYST_uc001hxl.1_Silent_p.R983R	NM_000081	NP_000072	Q99698	LYST_HUMAN	Homo sapiens lysosomal trafficking regulator (LYST), mRNA.	983					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			AACCACCAAGCCTATAAAACT	0.398000														50			27		0	0	1	0	0
FRK	2444	broad.mit.edu	37	6	116263743	116263743	+	Missense_Mutation	SNP	C	A	A	rs12209851		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:116263743C>A	uc003pwi.1	-	7	1799	c.1352G>T	c.(1351-1353)aGa>aTa	p.R451I		NM_002031	NP_002022	P42685	FRK_HUMAN	Homo sapiens fyn-related kinase (FRK), mRNA.	451	Protein kinase.				negative regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|skin(1)|urinary_tract(1)	27		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)		all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625)		TTGCGGAAGTCTATAGTTTTG	0.423000														106			9		0.00448238	0.0046769	1	1	0
USP20	10868	broad.mit.edu	37	9	132630508	132630508	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:132630508G>A	uc004bys.2	+	10	1126	c.915G>A	c.(913-915)tcG>tcA	p.S305S	USP20_uc004byr.2_Silent_p.S305S|USP20_uc004byt.1_Silent_p.S305S	NM_001110303	NP_006667	Q9Y2K6	UBP20_HUMAN	Homo sapiens ubiquitin specific peptidase 20 (USP20), transcript variant 3, mRNA.	305					endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	G-protein-coupled receptor binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11		Ovarian(14;0.00556)				GGGGCAGCTCGCAGGCCGAGA	0.657000														27			15		0	0	1	0	0
CPS1	1373	broad.mit.edu	37	2	211469970	211469970	+	Splice_Site	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:211469970G>T	uc010fur.3	+	18	2081	c.1999_splice	c.e18+1	p.G667_splice	CPS1_uc002vee.4_Splice_Site_p.G661_splice|CPS1_uc010fus.3_Splice_Site_p.G210_splice	NM_001122633	NP_001116105	P31327	CPSM_HUMAN	Homo sapiens carbamoyl-phosphate synthase 1, mitochondrial (CPS1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	661	ATP-grasp 1.				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		TGTTCACACAGGTAGGCAAAG	0.373000														91			7		2.0095e-06	2.27092e-06	1	1	0
ATL3	25923	broad.mit.edu	37	11	63398565	63398565	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:63398565A>G	uc001nxk.1	-	11	1762	c.1486T>C	c.(1486-1488)Tat>Cat	p.Y496H	ATL3_uc010rms.1_Missense_Mutation_p.Y478H|ATL3_uc010rmr.1_Missense_Mutation_p.Y154H	NM_015459	NP_056274	Q6DD88	ATLA3_HUMAN	Homo sapiens atlastin GTPase 3 (ATL3), mRNA.	496					Golgi organization|endoplasmic reticulum organization|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	GTP binding|GTPase activity|identical protein binding			endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	11						AGCTCACGATATTGACCAGAA	0.483000														38			4		0	0	1	0	0
TACR2	6865	broad.mit.edu	37	10	71175705	71175705	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:71175705G>A	uc001jpn.2	-	0	970	c.375C>T	c.(373-375)acC>acT	p.T125T		NM_001057	NP_001048	P21452	NK2R_HUMAN	Homo sapiens tachykinin receptor 2 (TACR2), mRNA.	125					excretion|muscle contraction	integral to plasma membrane	tachykinin receptor activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	11					Clonidine(DB00575)|Octreotide(DB00104)	CAGCAATGGCGGTCATGGAGT	0.572000														24			14		0	0	1	0	0
TBC1D22A	25771	broad.mit.edu	37	22	47290733	47290733	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:47290733G>T	uc003bib.3	+	6	1057	c.891G>T	c.(889-891)aaG>aaT	p.K297N	TBC1D22A_uc010haf.3_Missense_Mutation_p.K267N|TBC1D22A_uc003bie.3_Missense_Mutation_p.K219N|TBC1D22A_uc010hag.3_Non-coding_Transcript|TBC1D22A_uc003bif.3_Missense_Mutation_p.K250N	NM_014346	NP_055161	Q8WUA7	TB22A_HUMAN	Homo sapiens TBC1 domain family, member 22A (TBC1D22A), mRNA.	297	Rab-GAP TBC.					intracellular	Rab GTPase activator activity|protein homodimerization activity			breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)		TGCAGCCCAAGGTGACGGAGG	0.557000														40			21		7.87624e-14	9.83087e-14	1	1	0
AKAP9	10142	broad.mit.edu	37	7	91708647	91708647	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:91708647G>A	uc003ulg.3	+	30	7425	c.7200G>A	c.(7198-7200)caG>caA	p.Q2400Q	AKAP9_uc003ulf.3_Silent_p.Q2392Q|AKAP9_uc003uli.3_Silent_p.Q2023Q|AKAP9_uc003ulj.3_Silent_p.Q170Q	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	Homo sapiens A kinase (PRKA) anchor protein (yotiao) 9 (AKAP9), transcript variant 2, mRNA.	2412	Glu-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	Golgi apparatus|centrosome|cytosol	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CCTTGGAACAGCAAGTAGAAA	0.358000			T	BRAF	papillary thyroid									35			52		0	0	1	0	0
CMTM5	116173	broad.mit.edu	37	14	23848328	23848328	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:23848328C>T	uc010akm.3	+	3	1013	c.569C>T	c.(568-570)gCt>gTt	p.A190V	CMTM5_uc010akn.3_Missense_Mutation_p.A85V|CMTM5_uc001wju.3_Missense_Mutation_p.A72V|CMTM5_uc010ako.3_Intron|CMTM5_uc001wjs.3_Missense_Mutation_p.A123V|CMTM5_uc001wjt.3_Intron	NM_138460	NP_612469	Q96DZ9	CKLF5_HUMAN	Homo sapiens CKLF-like MARVEL transmembrane domain containing 5 (CMTM5), transcript variant 1, mRNA.	190	MARVEL.				chemotaxis	extracellular space|integral to membrane	cytokine activity			endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1)	8	all_cancers(95;2e-05)			GBM - Glioblastoma multiforme(265;0.0064)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0382)		GCCATTGCTGCTTTTGTGAGT	0.582000														23			20		0	0	1	0	0
FRYL	285527	broad.mit.edu	37	4	48502119	48502119	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:48502119G>A	uc003gyh.1	-	62	9316	c.8711C>T	c.(8710-8712)gCc>gTc	p.A2904V	FRYL_uc003gye.1_Missense_Mutation_p.A86V|FRYL_uc003gyf.1_Missense_Mutation_p.A294V|FRYL_uc003gyg.1_Missense_Mutation_p.A1594V	NM_015030	NP_055845	O94915	FRYL_HUMAN	Homo sapiens FRY-like (FRYL), mRNA.	2904					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						AGAATGAATGGCAGTTTCTAT	0.368000														62			5		0	0	1	0	0
CLEC12A	160364	broad.mit.edu	37	12	10133229	10133229	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:10133229G>T	uc001qwq.3	+	4	489	c.458G>T	c.(457-459)aGc>aTc	p.S153I	CLEC12A_uc001qwr.4_Missense_Mutation_p.S143I|CLEC12A_uc001qws.4_Missense_Mutation_p.S110I|CLEC12A_uc001qwt.3_Missense_Mutation_p.S72I	NM_001207010	NP_001193939	Q5QGZ9	CL12A_HUMAN	Homo sapiens C-type lectin domain family 12, member A (CLEC12A), transcript variant 3, mRNA.	143	C-type lectin.					integral to membrane|plasma membrane	receptor activity|sugar binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	16						CATAAGGACAGCTGTTATTTC	0.393000														64			42		3.77016e-25	4.93135e-25	1	1	0
SUSD5	26032	broad.mit.edu	37	3	33195514	33195514	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:33195514C>T	uc003cfo.1	-	4	1028	c.610G>A	c.(610-612)Gca>Aca	p.A204T		NM_015551	NP_056366	O60279	SUSD5_HUMAN	Homo sapiens sushi domain containing 5 (SUSD5), mRNA.	204					cell adhesion	integral to membrane	hyaluronic acid binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						TCAATGTGTGCCTCAGCCTCA	0.448000														14			9		0	0	1	0	0
SPZ1	84654	broad.mit.edu	37	5	79616311	79616311	+	RNA	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:79616311G>T	uc011ctk.1	-	1		c.1204C>A			SPZ1_uc003kgn.3_Missense_Mutation_p.A93S			Q9BXG8	SPZ1_HUMAN	Homo sapiens cDNA FLJ25709 fis, clone TST04944.						regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2)	26		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)		GATCACAGAAGCAAAAGAACT	0.318000														41			20		3.8784e-16	4.905e-16	1	1	0
PCDH11X	27328	broad.mit.edu	37	X	91132650	91132650	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:91132650G>A	uc004efk.2	+	1	2256	c.1411G>A	c.(1411-1413)Gta>Ata	p.V471I	PCDH11X_uc004efl.2_Missense_Mutation_p.V471I|PCDH11X_uc010nmv.2_Missense_Mutation_p.V471I|PCDH11X_uc004efm.2_Missense_Mutation_p.V471I|PCDH11X_uc004efn.2_Missense_Mutation_p.V471I|PCDH11X_uc004efo.2_Missense_Mutation_p.V471I|PCDH11X_uc004efh.2_Missense_Mutation_p.V471I|PCDH11X_uc004efj.1_Missense_Mutation_p.V471I	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	Homo sapiens protocadherin 11 X-linked (PCDH11X), transcript variant c, mRNA.	471	Cadherin 5.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						CCAGTCTTTCGTAACTGTTTC	0.433000														54			35		0	0	1	0	0
MAN2B1	4125	broad.mit.edu	37	19	12776319	12776319	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:12776319C>T	uc002mub.2	-	2	359	c.283G>A	c.(283-285)Gcc>Acc	p.A95T	MAN2B1_uc010dyv.1_Missense_Mutation_p.A95T|WDR83_uc002muc.3_5'Flank|WDR83_uc002mue.4_5'Flank	NM_000528	NP_000519	O00754	MA2B1_HUMAN	Homo sapiens mannosidase, alpha, class 2B, member 1 (MAN2B1), transcript variant 1, mRNA.	95					protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TGCACACCGGCGTGCTGGATG	0.552000														64			29		0	0	1	0	0
HELB	92797	broad.mit.edu	37	12	66725397	66725397	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:66725397A>G	uc001sti.2	+	11	3162	c.3134A>G	c.(3133-3135)gAt>gGt	p.D1045G	HELB_uc010ssz.1_Non-coding_Transcript|HELB_uc009zqt.1_Non-coding_Transcript	NM_033647	NP_387467	Q8NG08	HELB_HUMAN	Homo sapiens helicase (DNA) B (HELB), mRNA.	1045					DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		GGTGTGAATGATGATGAAAGT	0.373000														87			9		0	0	1	0	0
CACNA1H	8912	broad.mit.edu	37	16	1250550	1250550	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:1250550C>T	uc002cks.3	+	6	1346	c.1098C>T	c.(1096-1098)taC>taT	p.Y366Y	CACNA1H_uc002ckt.3_Silent_p.Y366Y	NM_021098	NP_066921	O95180	CAC1H_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1H subunit (CACNA1H), transcript variant 1, mRNA.	366					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	ACATCGGCTACGCCTGGATTG	0.647000														11			19		0	0	1	0	0
KIF4B	285643	broad.mit.edu	37	5	154394629	154394629	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:154394629C>T	uc010jih.1	+	0	1370	c.1210C>T	c.(1210-1212)Cgt>Tgt	p.R404C		NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	Homo sapiens kinesin family member 4B (KIF4B), mRNA.	404					axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity	p.R404C(3)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			AAAATTAAGTCGTTGTCTGAG	0.453000														104			10		0	0	1	0	0
HSPA12A	259217	broad.mit.edu	37	10	118451868	118451868	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:118451868G>T	uc001lct.3	-	5	762	c.657C>A	c.(655-657)gcC>gcA	p.A219A	HSPA12A_uc001lcu.3_Silent_p.A136A	NM_025015	NP_079291	O43301	HS12A_HUMAN	Homo sapiens heat shock 70kDa protein 12A (HSPA12A), mRNA.	219							ATP binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32				all cancers(201;0.0158)		TCACCTGGTAGGCAGCTTGTC	0.597000														127			11		1.08611e-07	1.25606e-07	1	1	0
DDX19B	11269	broad.mit.edu	37	16	70390074	70390074	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:70390074A>G	uc002eyv.3	+	3	288	c.217A>G	c.(217-219)Aca>Gca	p.T73A	DDX19B_uc002eys.3_Intron|DDX19B_uc010cfq.1_5'UTR|DDX19B_uc010cfs.3_Intron|DDX19B_uc010vlz.2_Missense_Mutation_p.T73A|DDX19B_uc010cfr.3_5'UTR|DDX19B_uc010vma.2_5'Flank	NM_018332	NP_060802	Q9UMR2	DD19B_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-As) box polypeptide 19A (DDX19A), mRNA.	74					mRNA export from nucleus|protein transport|transmembrane transport	cytoplasm|nuclear membrane|nuclear pore	ATP binding|ATP-dependent helicase activity|RNA binding|protein binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)	9		Ovarian(137;0.0694)				TGTTGATAACACAAACCAAGT	0.483000														228			17		0	0	1	0	0
GOLGA3	2802	broad.mit.edu	37	12	133385045	133385045	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:133385045G>T	uc001ukz.1	-	4	1169	c.610C>A	c.(610-612)Ctg>Atg	p.L204M	GOLGA3_uc021rgt.1_Non-coding_Transcript|GOLGA3_uc001ula.1_Missense_Mutation_p.L204M|GOLGA3_uc001ulb.3_Missense_Mutation_p.L204M	NM_005895	NP_005886	Q08378	GOGA3_HUMAN	Homo sapiens golgin A3 (GOLGA3), transcript variant 1, mRNA.	204	Golgi-targeting domain.				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		GTCATAGCCAGGGTACTGGCC	0.512000														350			36		8.73648e-17	1.10906e-16	1	1	0
IL15RA	3601	broad.mit.edu	37	10	6001721	6001721	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:6001721G>T	uc021pmo.1	-	5	884	c.870C>A	c.(868-870)acC>acA	p.T290T	IL15RA_uc010qau.2_Silent_p.T171T|IL15RA_uc021pmp.1_Silent_p.T141T|IL15RA_uc001iiv.3_Silent_p.T204T|IL15RA_uc001iiw.3_Silent_p.T168T|IL15RA_uc001iiy.3_Silent_p.T52T	NM_001243539	NP_001230468	Q13261	I15RA_HUMAN	Homo sapiens interleukin 15 receptor, alpha (IL15RA), transcript variant 3, mRNA.	204					cell proliferation	Golgi membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|extracellular space|integral to membrane|nuclear membrane	cytokine receptor activity			cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5						ACTTACCAGTGGTGTCGCTGT	0.582000														10			6		0.00198382	0.00208369	1	1	0
WNK3	65267	broad.mit.edu	37	X	54359998	54359998	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:54359998C>T	uc004dtc.2	-	1	548	c.109G>A	c.(109-111)Gct>Act	p.A37T	WNK3_uc004dtd.2_Missense_Mutation_p.A37T	NM_020922	NP_065973	Q9BYP7	WNK3_HUMAN	Homo sapiens WNK lysine deficient protein kinase 3 (WNK3), transcript variant 1, mRNA.	37					intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						TTTAGTCTAGCTTCTACTGTC	0.428000														75			55		0	0	1	0	0
OXR1	55074	broad.mit.edu	37	8	107715311	107715311	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:107715311T>G	uc011lht.2	+	6	955	c.856T>G	c.(856-858)Tta>Gta	p.L286V	OXR1_uc022azp.1_Missense_Mutation_p.L285V|OXR1_uc003ymf.3_Missense_Mutation_p.L285V|OXR1_uc011lhu.2_Missense_Mutation_p.L278V|OXR1_uc010mcg.3_Intron|OXR1_uc003ymg.1_Missense_Mutation_p.L218V|OXR1_uc003ymi.1_Missense_Mutation_p.L197V	NM_001198532	NP_001185461	Q8N573	OXR1_HUMAN	Homo sapiens oxidation resistance 1 (OXR1), transcript variant 3, mRNA.	286					cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion				NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			AAAGGAATCTTTACCCATGTA	0.333000														33			33		0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38976717	38976717	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:38976717C>T	uc002oit.3	+	33	5552	c.5422C>T	c.(5422-5424)Cgg>Tgg	p.R1808W	RYR1_uc002oiu.3_Missense_Mutation_p.R1808W	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	1808	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GGAGGCCCTGCGGGACAAGGC	0.711000														26			22		0	0	1	0	0
ACOT11	26027	broad.mit.edu	37	1	55065012	55065012	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:55065012T>C	uc001cxm.2	+	7	984	c.808T>C	c.(808-810)Ttc>Ctc	p.F270L	ACOT11_uc001cxj.2_Missense_Mutation_p.F148L|ACOT11_uc001cxl.2_Missense_Mutation_p.F270L	NM_015547	NP_056362	Q8WXI4	ACO11_HUMAN	Homo sapiens acyl-CoA thioesterase 11 (ACOT11), transcript variant 1, mRNA.	270	Acyl coenzyme A hydrolase 2.				fatty acid metabolic process|intracellular signal transduction|response to cold		acyl-CoA thioesterase activity|carboxylesterase activity			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1)	17						CATTGAAATGTTCCACTTCCG	0.612000														142			9		0	0	1	0	0
LAMB4	22798	broad.mit.edu	37	7	107696370	107696370	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:107696370G>A	uc010ljo.1	-	24	3546	c.3462C>T	c.(3460-3462)agC>agT	p.S1154S	LAMB4_uc003vey.2_Silent_p.S1154S|LAMB4_uc010ljp.1_Silent_p.S123S	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	Homo sapiens laminin, beta 4 (LAMB4), mRNA.	1154	Laminin EGF-like 13.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						ATCTCTGGCCGCTGACACCCT	0.527000														25			43		0	0	1	0	0
CBLL1	79872	broad.mit.edu	37	7	107399325	107399325	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:107399325C>T	uc003veq.3	+	5	1508	c.1178C>T	c.(1177-1179)gCc>gTc	p.A393V	CBLL1_uc011kme.2_Missense_Mutation_p.A272V|CBLL1_uc011kmf.2_Missense_Mutation_p.A392V	NM_024814	NP_079090	Q75N03	HAKAI_HUMAN	Homo sapiens Cas-Br-M (murine) ecotropic retroviral transforming sequence-like 1 (CBLL1), transcript variant 1, mRNA.	393	Pro-rich.				cell-cell adhesion|negative regulation of cell adhesion|positive regulation of cell migration|positive regulation of endocytosis		protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(3)	21						CATATTATTGCCCAGATGCCA	0.532000														168			61		0	0	1	0	0
SLCO3A1	28232	broad.mit.edu	37	15	92647619	92647619	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:92647619C>T	uc002bqx.2	+	3	1057	c.856C>T	c.(856-858)Cca>Tca	p.P286S	SLCO3A1_uc002bqy.2_Missense_Mutation_p.P286S|SLCO3A1_uc010boc.1_Non-coding_Transcript|SLCO3A1_uc002bqz.1_Missense_Mutation_p.P228S	NM_013272	NP_037404	Q9UIG8	SO3A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 3A1 (SLCO3A1), transcript variant 1, mRNA.	286					sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)			GTTTGGGTTTCCACAGTCCCT	0.607000														53			27		0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124017690	124017690	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:124017690A>G	uc003ehg.3	+	5	1143	c.1016A>G	c.(1015-1017)gAg>gGg	p.E339G	KALRN_uc010hrv.1_Missense_Mutation_p.E339G|KALRN_uc003ehf.1_Missense_Mutation_p.E339G|KALRN_uc011bjy.1_Missense_Mutation_p.E339G	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA.	339					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						AGCCACACGGAGATCGGAGTC	0.522000														123			15		0	0	1	0	0
ALPK3	57538	broad.mit.edu	37	15	85382937	85382937	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:85382937C>T	uc002ble.3	+	4	1200	c.1033C>T	c.(1033-1035)Cga>Tga	p.R345*		NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	Homo sapiens alpha-kinase 3 (ALPK3), mRNA.	345	Ig-like 1.				heart development	nucleus	ATP binding|protein serine/threonine kinase activity	p.C344Y(1)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CTCTAGGTGTCGAGAAGAAGA	0.632000														43			27		0	0	1	0	0
SLC10A2	6555	broad.mit.edu	37	13	103710636	103710636	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:103710636G>A	uc001vpy.4	-	1	1071	c.474C>T	c.(472-474)atC>atT	p.I158I		NM_000452	NP_000443	Q12908	NTCP2_HUMAN	Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 2 (SLC10A2), mRNA.	158					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					AGGGAATTACGATGCTCCCAG	0.502000														43			18		0	0	1	0	0
KIF2B	84643	broad.mit.edu	37	17	51902154	51902154	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:51902154T>C	uc002iua.2	+	0	1916	c.1760T>C	c.(1759-1761)gTa>gCa	p.V587A	KIF2B_uc010wna.1_Non-coding_Transcript	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	Homo sapiens kinesin family member 2B (KIF2B), mRNA.	587					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						ATACCTTATGTACAGAGTGAG	0.418000														56			36		0	0	1	0	0
ADAM19	8728	broad.mit.edu	37	5	156915368	156915368	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:156915368G>T	uc003lwz.3	-	20	2534	c.2455C>A	c.(2455-2457)Cca>Aca	p.P819T	ADAM19_uc003lww.2_Missense_Mutation_p.P552T|ADAM19_uc003lwy.3_Missense_Mutation_p.P418T|ADAM19_uc011ddr.1_Missense_Mutation_p.P750T	NM_033274	NP_150377	Q9H013	ADA19_HUMAN	Homo sapiens ADAM metallopeptidase domain 19 (ADAM19), mRNA.	819					proteolysis	integral to membrane	SH3 domain binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CCGGGCCCTGGGGAGTTCCTA	0.647000														82			13		5.50884e-06	6.15991e-06	1	1	0
INPP5B	3633	broad.mit.edu	37	1	38355275	38355275	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:38355275G>A	uc001ccf.1	-	2	296	c.259C>T	c.(259-261)Cat>Tat	p.H87Y	INPP5B_uc009vvk.1_Missense_Mutation_p.H192Y|INPP5B_uc001ccg.1_Missense_Mutation_p.H251Y|INPP5B_uc010oij.1_Non-coding_Transcript	NM_005540	NP_005531	P32019	I5P2_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase, 75kDa (INPP5B), nuclear gene encoding mitochondrial protein, mRNA.	331					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to membrane|microtubule cytoskeleton	GTPase activator activity|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1)	15	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TGTAGTAGATGTGATTTCACA	0.413000														87			43		0	0	1	0	0
CLEC12A	160364	broad.mit.edu	37	12	10131982	10131982	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:10131982A>C	uc001qwq.3	+	3	299	c.268A>C	c.(268-270)Aac>Cac	p.N90H	CLEC12A_uc001qwr.4_Missense_Mutation_p.N80H|CLEC12A_uc001qws.4_Missense_Mutation_p.N47H|CLEC12A_uc001qwt.3_Missense_Mutation_p.N9H	NM_001207010	NP_001193939	Q5QGZ9	CL12A_HUMAN	Homo sapiens C-type lectin domain family 12, member A (CLEC12A), transcript variant 3, mRNA.	80						integral to membrane|plasma membrane	receptor activity|sugar binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	16						CAAACTACAAAACATCAGTGA	0.333000														11			7		0	0	1	0	0
FAM126B	285172	broad.mit.edu	37	2	201887581	201887581	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:201887581A>G	uc002uws.4	-	3	314	c.126T>C	c.(124-126)taT>taC	p.Y42Y	FAM126B_uc002uwu.3_5'UTR|FAM126B_uc002uwv.3_Silent_p.Y42Y|FAM126B_uc002uww.1_Silent_p.Y42Y	NM_173822	NP_776183	Q8IXS8	F126B_HUMAN	Homo sapiens family with sequence similarity 126, member B (FAM126B), mRNA.	42						intracellular				endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						GAATAACTTTATAGAGGGCTG	0.333000														50			19		0	0	1	0	0
ASAP2	8853	broad.mit.edu	37	2	9496443	9496443	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:9496443C>T	uc002qzh.2	+	13	1636	c.1296C>T	c.(1294-1296)ggC>ggT	p.G432G	ASAP2_uc002qzi.2_Silent_p.G432G	NM_003887	NP_003878	O43150	ASAP2_HUMAN	Homo sapiens ArfGAP with SH3 domain, ankyrin repeat and PH domain 2 (ASAP2), transcript variant 1, mRNA.	432	Arf-GAP.				regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						GGATGACGGGCAATGACGTCT	0.502000														38			11		0	0	1	0	0
PLXNA2	5362	broad.mit.edu	37	1	208215502	208215502	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:208215502G>T	uc001hgz.3	-	21	4985	c.4227C>A	c.(4225-4227)ctC>ctA	p.L1409L		NM_025179	NP_079455	O75051	PLXA2_HUMAN	Homo sapiens plexin A2 (PLXNA2), mRNA.	1409					axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		TGAGGTCAGAGAGCAGCTGCT	0.607000														43			23		8.04996e-18	1.02859e-17	1	1	0
TECPR2	9895	broad.mit.edu	37	14	102881081	102881081	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:102881081T>C	uc001ylw.2	+	4	815	c.589T>C	c.(589-591)Tac>Cac	p.Y197H	TECPR2_uc010txw.2_Missense_Mutation_p.Y197H|TECPR2_uc010awl.3_Missense_Mutation_p.Y197H|TECPR2_uc010txx.2_Intron	NM_014844	NP_055659	O15040	TCPR2_HUMAN	Homo sapiens tectonin beta-propeller repeat containing 2 (TECPR2), transcript variant 1, mRNA.	197							protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						TCTGCTCTTTTACACTGAAGA	0.453000														77			46		0	0	1	0	0
SLC4A4	8671	broad.mit.edu	37	4	72338462	72338462	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:72338462T>C	uc010iic.3	+	13	1795	c.1678T>C	c.(1678-1680)Tgg>Cgg	p.W560R	SLC4A4_uc003hfy.3_Missense_Mutation_p.W560R|SLC4A4_uc010iib.3_Missense_Mutation_p.W560R|SLC4A4_uc003hfz.3_Missense_Mutation_p.W560R|SLC4A4_uc003hgc.4_Missense_Mutation_p.W516R|SLC4A4_uc010iid.3_Intron|SLC4A4_uc003hga.2_Missense_Mutation_p.W438R|SLC4A4_uc003hgb.3_Missense_Mutation_p.W516R	NM_001134742	NP_001128214	Q9Y6R1	S4A4_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 4 (SLC4A4), transcript variant 3, mRNA.	560						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			GATTGGCCTGTGGTCCGCCTT	0.428000														123			90		0	0	1	0	0
IQGAP1	8826	broad.mit.edu	37	15	91025201	91025201	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:91025201C>A	uc002bpl.1	+	26	3440	c.3339C>A	c.(3337-3339)ccC>ccA	p.P1113P		NM_003870	NP_003861	P46940	IQGA1_HUMAN	Homo sapiens IQ motif containing GTPase activating protein 1 (IQGAP1), mRNA.	1113	C1.|Ras-GAP.				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	GTPase inhibitor activity|Ras GTPase activator activity|calmodulin binding|protein phosphatase binding	p.P1113S(1)		breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			GCAAACTGCCCTATGATGTGA	0.468000														30			5		0.0215528	0.0220531	1	1	0
TUFM	7284	broad.mit.edu	37	16	28855565	28855565	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:28855565C>T	uc002drh.2	-	6	1047	c.908G>A	c.(907-909)cGc>cAc	p.R303H	NPIPL1_uc010vct.2_Intron|TUFM_uc021tft.1_5'Flank|SH2B1_uc002dri.3_5'Flank	NM_003321	NP_003312	P49411	EFTU_HUMAN	Homo sapiens Tu translation elongation factor, mitochondrial (TUFM), nuclear gene encoding mitochondrial protein, mRNA.	300						mitochondrial nucleoid	GTP binding|GTPase activity|protein binding|translation elongation factor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	13						CACCACAGTGCGGATGTTCTT	0.582000														44			31		0	0	1	0	0
LRRC20	55222	broad.mit.edu	37	10	72136267	72136267	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:72136267G>A	uc001jqx.1	-	1	245	c.23C>T	c.(22-24)gCc>gTc	p.A8V	LRRC20_uc001jqy.1_Missense_Mutation_p.A8V|LRRC20_uc001jqz.1_Missense_Mutation_p.A8V	NM_207119	NP_997002	Q8TCA0	LRC20_HUMAN	Homo sapiens leucine rich repeat containing 20 (LRRC20), transcript variant 1, mRNA.	8										endometrium(2)|large_intestine(4)|lung(2)|urinary_tract(1)	9						TCTGGCCACGGCCTCACCCAT	0.612000														56			40		0	0	1	0	0
ENOX2	10495	broad.mit.edu	37	X	129765465	129765465	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:129765465G>T	uc004evw.3	-	13	2010	c.1592C>A	c.(1591-1593)tCt>tAt	p.S531Y	ENOX2_uc004evx.3_Missense_Mutation_p.S502Y|ENOX2_uc004evy.3_Missense_Mutation_p.S502Y|ENOX2_uc004evv.3_Missense_Mutation_p.S356Y	NM_182314	NP_006366	Q16206	ENOX2_HUMAN	Homo sapiens ecto-NOX disulfide-thiol exchanger 2 (ENOX2), transcript variant 2, mRNA.	531					cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm	cytosol|external side of plasma membrane|extracellular space	nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3)	33						TTCACGTTCAGATTTGATAGG	0.478000														91			43		5.44703e-19	7.00006e-19	1	1	0
GFRA2	2675	broad.mit.edu	37	8	21560348	21560348	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:21560348G>A	uc003wzu.1	-	6	1862	c.1187C>T	c.(1186-1188)aCc>aTc	p.T396I	GFRA2_uc003wzv.1_Missense_Mutation_p.T291I|GFRA2_uc003wzw.1_Missense_Mutation_p.T263I	NM_001495	NP_001486	O00451	GFRA2_HUMAN	Homo sapiens GDNF family receptor alpha 2 (GFRA2), transcript variant 1, mRNA.	396						anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|prostate(1)|skin(1)	7				Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727)		GATGACACTGGTCCCCAAGCT	0.622000														33			13		0	0	1	0	0
GBP7	388646	broad.mit.edu	37	1	89616141	89616141	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:89616141T>C	uc001dna.2	-	5	882	c.743A>G	c.(742-744)cAt>cGt	p.H248R	GBP2_uc001dmy.1_Non-coding_Transcript	NM_207398	NP_997281	Q8N8V2	GBP7_HUMAN	Homo sapiens guanylate binding protein 7 (GBP7), mRNA.	248						integral to membrane	GTP binding|GTPase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)		TTCTTCAACATGGAGTAAGAG	0.398000														79			29		0	0	1	0	0
KRT19P2	160313	broad.mit.edu	37	12	95228373	95228373	+	RNA	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:95228373G>T	uc001tdk.2	+	0		c.200G>T								Homo sapiens keratin 19 pseudogene 2 (KRT19P2), non-coding RNA.																		ACAGATCAAAGGCCTGAAGGA	0.537000														13			8		5.18039e-06	5.80246e-06	1	1	0
PACSIN3	29763	broad.mit.edu	37	11	47202229	47202229	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:47202229C>A	uc001ndw.3	-	4	567	c.224G>T	c.(223-225)gGc>gTc	p.G75V	PACSIN3_uc001ndy.3_Missense_Mutation_p.G75V|PACSIN3_uc001ndx.3_Missense_Mutation_p.G75V	NM_001184975	NP_057307	Q9UKS6	PACN3_HUMAN	Homo sapiens protein kinase C and casein kinase substrate in neurons 3 (PACSIN3), transcript variant 1, mRNA.	75					endocytosis|negative regulation of endocytosis|positive regulation of membrane protein ectodomain proteolysis	cytoplasm|plasma membrane	cytoskeletal protein binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)	11						CTCCAGTGTGCCATACTGGGG	0.642000														11			3		1	1	1	1	0
NLRP10	338322	broad.mit.edu	37	11	7982200	7982200	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:7982200C>A	uc001mfv.1	-	1	976	c.959G>T	c.(958-960)aGg>aTg	p.R320M		NM_176821	NP_789791	Q86W26	NAL10_HUMAN	Homo sapiens NLR family, pyrin domain containing 10 (NLRP10), mRNA.	320	NACHT.						ATP binding	p.R320M(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GTACCTCGCCCTCTCCTCCTC	0.512000														103			16		1.3612e-06	1.54683e-06	1	1	0
IL7R	3575	broad.mit.edu	37	5	35873728	35873728	+	Silent	SNP	T	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:35873728T>A	uc003jjs.3	+	4	773	c.684T>A	c.(682-684)acT>acA	p.T228T	IL7R_uc011coo.2_Silent_p.T228T|IL7R_uc011cop.2_Intron	NM_002185	NP_002176	P16871	IL7RA_HUMAN	Homo sapiens interleukin 7 receptor (IL7R), mRNA.	228					immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			ACTTCAGAACTCCAGAGATCA	0.423000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency							88			10		0	0	1	0	0
FAAH2	158584	broad.mit.edu	37	X	57337037	57337037	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:57337037C>T	uc004dvc.3	+	2	436	c.287C>T	c.(286-288)gCg>gTg	p.A96V		NM_174912	NP_777572	Q6GMR7	FAAH2_HUMAN	Homo sapiens fatty acid amide hydrolase 2 (FAAH2), mRNA.	96						integral to membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|hydrolase activity	p.A96S(1)		endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3)	22						TTTGAGGAAGCGATGAAGGAG	0.383000										HNSCC(52;0.14)				32			18		0	0	1	0	0
DNER	92737	broad.mit.edu	37	2	230377525	230377525	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:230377525C>T	uc002vpv.3	-	5	1268	c.1121G>A	c.(1120-1122)aGc>aAc	p.S374N	DNER_uc010zly.1_Missense_Mutation_p.S102N	NM_139072	NP_620711	Q8NFT8	DNER_HUMAN	Homo sapiens delta/notch-like EGF repeat containing (DNER), mRNA.	374	EGF-like 4.				Notch signaling pathway|central nervous system development|endocytosis|neuron migration|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		GGTGAAATTGCTCCCATCTTG	0.423000														78			53		0	0	1	0	0
TRMT2B	79979	broad.mit.edu	37	X	100274325	100274325	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:100274325C>A	uc004egt.3	-	11	1649	c.1236G>T	c.(1234-1236)aaG>aaT	p.K412N	TRMT2B_uc004egu.3_Missense_Mutation_p.K293N|TRMT2B_uc004egr.3_Missense_Mutation_p.K412N|TRMT2B_uc004egv.3_Missense_Mutation_p.K367N|TRMT2B_uc004egq.3_Missense_Mutation_p.K412N|TRMT2B_uc004egs.3_Missense_Mutation_p.K412N	NM_001167970	NP_079193	Q96GJ1	TRM2_HUMAN	Homo sapiens TRM2 tRNA methyltransferase 2 homolog B (S. cerevisiae) (TRMT2B), transcript variant 2, mRNA.	412							tRNA (uracil-5-)-methyltransferase activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	24						GTCCATCTTCCTTTGACTTTA	0.468000														34			25		5.45024e-15	6.85306e-15	1	1	0
SALL4	57167	broad.mit.edu	37	20	50401032	50401032	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:50401032G>A	uc002xwh.4	-	3	3035	c.2934C>T	c.(2932-2934)ggC>ggT	p.G978G	SALL4_uc010gii.3_Silent_p.G541G|SALL4_uc002xwi.4_Silent_p.G201G	NM_020436	NP_065169	Q9UJQ4	SALL4_HUMAN	Homo sapiens sal-like 4 (Drosophila) (SALL4), mRNA.	978					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CGGCCAGACCGCCATTGAGCA	0.542000														63			27		0	0	1	0	0
TFG	10342	broad.mit.edu	37	3	100447624	100447624	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:100447624C>T	uc003duf.3	+	3	522	c.337C>T	c.(337-339)Cga>Tga	p.R113*	TFG_uc003due.3_Nonsense_Mutation_p.R113*|TFG_uc003dug.3_Nonsense_Mutation_p.R113*|TFG_uc003dui.3_Nonsense_Mutation_p.R113*	NM_001007565	NP_006061	Q92734	TFG_HUMAN	Homo sapiens TRK-fused gene (TFG), transcript variant 2, mRNA.	113					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm	signal transducer activity		TFG/NR4A3(2)|TFG/NTRK1_ENST00000392302(5)|TFG/ALK(9)	large_intestine(4)|lung(2)|prostate(1)|stomach(1)	8						GATAGAACTTCGAAATAAAGT	0.378000			T	"""NTRK1, ALK"""	"""papillary thyroid, ALCL, NSCLC"""									54			45		0	0	1	0	0
TBC1D3F	84218	broad.mit.edu	37	17	36365177	36365177	+	Splice_Site	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:36365177C>T	uc010wdn.1	-	3		c.195_splice	c.e3-1		LOC440434_uc002hpx.2_Intron			A6NER0	TBC3F_HUMAN	Homo sapiens aminopeptidase puromycin sensitive pseudogene (LOC440434), non-coding RNA.							intracellular	Rab GTPase activator activity			liver(1)|pancreas(1)	2						GTTCCCGTACCTGTGATTGAA	0.343000														80			6		0	0	1	0	0
SLC9A3R1	9368	broad.mit.edu	37	17	72758167	72758167	+	Missense_Mutation	SNP	G	A	A	rs41282065	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:72758167G>A	uc002jlo.3	+	1	681	c.458G>A	c.(457-459)cGg>cAg	p.R153Q	SLC9A3R1_uc002jln.1_Non-coding_Transcript	NM_004252	NP_004243	O14745	NHRF1_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 3 regulator 1 (SLC9A3R1), mRNA.	153			R -> Q (in NPHLOP2; the mutant expressed in cultured renal cells increases the generation of cAMP by PTH and inhibits phosphate transport; dbSNP:rs41282065).		Wnt receptor signaling pathway|apoptosis|bile acid secretion|glutathione transport|microvillus assembly|negative regulation of ERK1 and ERK2 cascade|negative regulation of cell proliferation|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|protein complex assembly|regulation of protein kinase activity|regulation of sodium:hydrogen antiporter activity|renal absorption	actin cytoskeleton|apical plasma membrane|centrosome|endomembrane system|filopodium|intracellular membrane-bounded organelle|microvillus membrane|ruffle	PDZ domain binding|beta-2 adrenergic receptor binding|beta-catenin binding|chloride channel regulator activity|growth factor receptor binding|phosphatase binding|protein self-association			large_intestine(4)	4						CTTCGGCCTCGGCTCTGTACC	0.627000														29			19		0	0	1	0	0
CALD1	800	broad.mit.edu	37	7	134635185	134635185	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:134635185C>T	uc003vrz.3	+	8	2321	c.1855C>T	c.(1855-1857)Cgc>Tgc	p.R619C	CALD1_uc003vry.3_Missense_Mutation_p.R364C|CALD1_uc003vsb.3_Missense_Mutation_p.R364C|CALD1_uc011kpt.2_Missense_Mutation_p.R138C|CALD1_uc010lmm.3_Missense_Mutation_p.R390C|CALD1_uc003vsc.3_Missense_Mutation_p.R384C|CALD1_uc003vsd.3_Missense_Mutation_p.R358C|CALD1_uc011kpu.2_Missense_Mutation_p.R369C|CALD1_uc011kpv.2_Missense_Mutation_p.R228C|CALD1_uc003vse.3_Missense_Mutation_p.R483C	NM_033138	NP_149129	Q05682	CALD1_HUMAN	Homo sapiens caldesmon 1 (CALD1), transcript variant 1, mRNA.	619	Tropomyosin-binding (Potential).				cellular component movement|muscle contraction	cytosol|focal adhesion|myofibril	actin binding|calmodulin binding|myosin binding|tropomyosin binding			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						TGCTGAGAAACGCCAGAAGAT	0.433000														39			39		0	0	1	0	0
TBC1D26	353149	broad.mit.edu	37	17	15643436	15643436	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:15643436C>T	uc010cov.3	+	8	770	c.520C>T	c.(520-522)Ctc>Ttc	p.L174F	TBC1D26_uc010cou.1_Missense_Mutation_p.L174F|TBC1D26_uc002gpb.4_Non-coding_Transcript	NM_178571	NP_848666	Q86UD7	TBC26_HUMAN	Homo sapiens TBC1 domain family, member 26 (TBC1D26), mRNA.	174	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			endometrium(1)|large_intestine(1)|lung(4)|skin(1)	7				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.078)		ATGTGACATCCTCGTGGCCTA	0.468000														54			44		0	0	1	0	0
ZNF608	57507	broad.mit.edu	37	5	124080282	124080282	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:124080282C>T	uc003ktq.1	-	0	584	c.401G>A	c.(400-402)gGc>gAc	p.G134D	ZNF608_uc003ktr.1_Non-coding_Transcript|ZNF608_uc003kts.1_Missense_Mutation_p.G134D|ZNF608_uc003ktt.1_Missense_Mutation_p.G134D	NM_020747	NP_065798	Q9ULD9	ZN608_HUMAN	Homo sapiens zinc finger protein 608 (ZNF608), mRNA.	134						intracellular	zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		CTGCCTCTTGCCAGTGCTGCT	0.527000														31			24		0	0	1	0	0
KCNK5	8645	broad.mit.edu	37	6	39159385	39159385	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:39159385G>A	uc003oon.3	-	4	1145	c.781C>T	c.(781-783)Cgg>Tgg	p.R261W		NM_003740	NP_003731	O95279	KCNK5_HUMAN	Homo sapiens potassium channel, subfamily K, member 5 (KCNK5), mRNA.	261					excretion	integral to plasma membrane	potassium channel activity|voltage-gated ion channel activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3)	19						TTCCGTCGCCGCCGCCGCTTC	0.572000														105			9		0	0	1	0	0
GPR171	29909	broad.mit.edu	37	3	150916564	150916564	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:150916564G>A	uc003eyq.4	-	2	850	c.610C>T	c.(610-612)Cga>Tga	p.R204*	MED12L_uc003eyp.3_Intron|MED12L_uc011bnz.2_Intron|GPR171_uc021xfy.1_Nonsense_Mutation_p.R204*	NM_013308	NP_037440	O14626	GP171_HUMAN	Homo sapiens G protein-coupled receptor 171 (GPR171), mRNA.	204						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(1)|kidney(4)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	15			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TAGAGCTGTCGAATTACAAGG	0.333000														34			17		0	0	1	0	0
STAT3	6774	broad.mit.edu	37	17	40500461	40500461	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:40500461C>A	uc002hzl.1	-	1	314	c.74G>T	c.(73-75)aGc>aTc	p.S25I	STAT3_uc002hzk.1_Missense_Mutation_p.S25I|STAT3_uc002hzm.1_Missense_Mutation_p.S25I|STAT3_uc010wgh.1_Intron|STAT3_uc002hzn.1_Missense_Mutation_p.S25I	NM_139276	NP_644805	P40763	STAT3_HUMAN	Homo sapiens signal transducer and activator of transcription 3 (acute-phase response factor) (STAT3), transcript variant 1, mRNA.	25					JAK-STAT cascade involved in growth hormone signaling pathway|cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis	cytosol|nucleus|plasma membrane	calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding	p.S25N(2)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		CATTGGGAAGCTGTCACTGTA	0.498000									Hyperimmunoglobulin E Recurrent Infection Syndrome					77			6		0.0215528	0.0220531	1	1	0
SLC13A1	6561	broad.mit.edu	37	7	122811844	122811844	+	Missense_Mutation	SNP	T	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:122811844T>A	uc003vkm.3	-	2	368	c.343A>T	c.(343-345)Atg>Ttg	p.M115L	SLC13A1_uc010lks.3_5'UTR	NM_022444	NP_071889	Q9BZW2	S13A1_HUMAN	Homo sapiens solute carrier family 13 (sodium/sulfate symporters), member 1 (SLC13A1), mRNA.	115						integral to membrane|plasma membrane	sodium:sulfate symporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	ACACCAACCATCATCACCATT	0.358000														166			72		0	0	1	0	0
TMEM179B	374395	broad.mit.edu	37	11	62556618	62556618	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:62556618G>A	uc001nvd.4	+	1	250	c.220G>A	c.(220-222)Gcc>Acc	p.A74T		NM_199337	NP_955369	Q7Z7N9	T179B_HUMAN	Homo sapiens transmembrane protein 179B (TMEM179B), mRNA.	74						integral to membrane				kidney(1)|large_intestine(1)|liver(1)|lung(1)	4						TGGCCTCTTGGCCCTCTACTG	0.602000														39			38		0	0	1	0	0
KCNC2	3747	broad.mit.edu	37	12	75445001	75445001	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:75445001C>T	uc001sxg.1	-	2	1328	c.784G>A	c.(784-786)Gaa>Aaa	p.E262K	KCNC2_uc009zry.3_Missense_Mutation_p.E262K|KCNC2_uc001sxe.3_Missense_Mutation_p.E262K|KCNC2_uc001sxf.3_Missense_Mutation_p.E262K|KCNC2_uc010stw.1_Missense_Mutation_p.E262K	NM_139137	NP_631875	Q96PR1	KCNC2_HUMAN	Homo sapiens potassium voltage-gated channel, Shaw-related subfamily, member 2 (KCNC2), transcript variant 2, mRNA.	262					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						ATGACTGGTTCTGTCTTGTTT	0.368000														46			20		0	0	1	0	0
SUSD4	55061	broad.mit.edu	37	1	223402633	223402633	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:223402633G>A	uc001hnx.3	-	4	1456	c.822C>T	c.(820-822)tgC>tgT	p.C274C	SUSD4_uc001hny.4_Silent_p.C274C|SUSD4_uc010puw.2_Silent_p.C114C	NM_017982	NP_060452	Q5VX71	SUSD4_HUMAN	Homo sapiens sushi domain containing 4 (SUSD4), transcript variant 1, mRNA.	274	Sushi 4.					integral to membrane				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		AGCCAGGATCGCAGTAAAACT	0.512000														24			28		0	0	1	0	0
TRPM8	79054	broad.mit.edu	37	2	234862630	234862630	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:234862630G>A	uc002vvh.3	+	9	1250	c.1210G>A	c.(1210-1212)Gtg>Atg	p.V404M	TRPM8_uc010fyj.3_Missense_Mutation_p.V92M	NM_024080	NP_076985	Q7Z2W7	TRPM8_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 8 (TRPM8), mRNA.	404						integral to membrane				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	GGATGAAATTGTGAGCAATGC	0.393000														16			11		0	0	1	0	0
RALY	22913	broad.mit.edu	37	20	32664552	32664552	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:32664552A>G	uc002xab.3	+	6	1161	c.589A>G	c.(589-591)Atc>Gtc	p.I197V	RALY_uc002xac.3_Missense_Mutation_p.I181V	NM_016732	NP_057951	Q9UKM9	RALY_HUMAN	Homo sapiens RNA binding protein, autoantigenic (hnRNP-associated with lethal yellow homolog (mouse)) (RALY), transcript variant 1, mRNA.	197						catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex	RNA binding|nucleotide binding			kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12						GCTGACACAGATCAAGTCCAA	0.587000														44			4		0	0	1	0	0
CADM1	23705	broad.mit.edu	37	11	115111086	115111086	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:115111086G>A	uc001ppi.4	-	1	308	c.179C>T	c.(178-180)gCg>gTg	p.A60V	CADM1_uc001ppf.4_Missense_Mutation_p.A60V|CADM1_uc001ppk.4_Missense_Mutation_p.A60V|CADM1_uc001ppj.4_Missense_Mutation_p.A60V|CADM1_uc001ppl.3_Missense_Mutation_p.A60V	NM_014333	NP_055148	Q9BY67	CADM1_HUMAN	Homo sapiens cell adhesion molecule 1 (CADM1), transcript variant 1, mRNA.	60	Ig-like V-type.				adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding			cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		ACTGATGGTCGCAACCTCTCC	0.433000														25			19		0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152534196	152534196	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:152534196G>A	uc021vrb.1	-	31	3686	c.3657C>T	c.(3655-3657)gcC>gcT	p.A1219A	NEB_uc002txu.3_Silent_p.A1219A|NEB_uc021vrc.1_Silent_p.A1219A|NEB_uc010fnx.3_Silent_p.A1219A|NEB_uc021vrd.1_Silent_p.A1219A	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	1219					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GAGCATCACCGGCCTTTTTAA	0.453000														133			61		0	0	1	0	0
KIAA0922	23240	broad.mit.edu	37	4	154541987	154541987	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:154541987G>A	uc010ipp.3	+	26	3699	c.3647G>A	c.(3646-3648)cGa>cAa	p.R1216Q	KIAA0922_uc003inm.4_Missense_Mutation_p.R1215Q|KIAA0922_uc010ipq.3_Missense_Mutation_p.R984Q	NM_001131007	NP_001124479	A2VDJ0	T131L_HUMAN	Homo sapiens KIAA0922 (KIAA0922), transcript variant 1, mRNA.	1215						integral to membrane				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				AGTAAAAGTCGAACATGTAGA	0.308000														59			36		0	0	1	0	0
SPTBN4	57731	broad.mit.edu	37	19	41008321	41008321	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:41008321G>T	uc002ony.3	+	9	1196	c.1110G>T	c.(1108-1110)gaG>gaT	p.E370D	SPTBN4_uc002onx.3_Missense_Mutation_p.E370D|SPTBN4_uc002onz.3_Missense_Mutation_p.E370D	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 4 (SPTBN4), transcript variant sigma1, mRNA.	370					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	PML body|cytosol|nuclear matrix|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GGAACCTAGAGGTGCTGCTCT	0.617000														44			24		1.12875e-08	1.32934e-08	1	1	0
MGA	23269	broad.mit.edu	37	15	42058262	42058262	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:42058262G>A	uc010ucy.2	+	23	8163	c.7982G>A	c.(7981-7983)gGa>gAa	p.G2661E	MGA_uc010ucz.2_Missense_Mutation_p.G2452E	NM_001164273	NP_001157745	Q8IWI9	MGAP_HUMAN	Homo sapiens MAX gene associated (MGA), transcript variant 1, mRNA.	2622						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity	p.L2660L(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		GCCACAGAGGGAGGTTTGGTA	0.368000														53			30		0	0	1	0	0
GSG1	83445	broad.mit.edu	37	12	13238070	13238070	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:13238070T>G	uc001rbn.3	-	6	1038	c.854A>C	c.(853-855)aAg>aCg	p.K285T	GSG1_uc001rbl.3_Missense_Mutation_p.K221T|GSG1_uc001rbj.3_Missense_Mutation_p.K249T|GSG1_uc001rbk.3_3'UTR|GSG1_uc001rbm.3_Missense_Mutation_p.K198T|GSG1_uc001rbo.3_3'UTR|GSG1_uc001rbp.3_Missense_Mutation_p.K262T|GSG1_uc001rbq.2_Intron	NM_001080555	NP_001074024	Q2KHT4	GSG1_HUMAN	Homo sapiens germ cell associated 1 (GSG1), transcript variant 4, mRNA.	272						endoplasmic reticulum membrane|integral to membrane				endometrium(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(1)	10		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.15)		CGGGTTTTCCTTGAAGCTCTT	0.557000														21			19		0	0	1	0	0
TAF1	6872	broad.mit.edu	37	X	70627449	70627449	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:70627449G>A	uc004dzu.4	+	26	4181	c.4130G>A	c.(4129-4131)cGc>cAc	p.R1377H	BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.4_Missense_Mutation_p.R1398H|TAF1_uc004dzv.4_Missense_Mutation_p.R551H|TAF1_uc010nld.1_Non-coding_Transcript|TAF1_uc010nle.1_Non-coding_Transcript|TAF1_uc010nlf.1_5'UTR|TAF1_uc004dzx.2_Non-coding_Transcript|TAF1_uc004dzy.2_Non-coding_Transcript	NM_138923	NP_620278	P21675	TAF1_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa (TAF1), transcript variant 2, mRNA.	1377	Interaction with ASF1A and ASF1B.				G1 phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|TBP-class protein binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|transcription coactivator activity			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				ATCCACCGGCGCCGCACAGAC	0.448000														39			23		0	0	1	0	0
PIGS	94005	broad.mit.edu	37	17	26887149	26887149	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:26887149T>C	uc002hbo.2	-	6	1110	c.737A>G	c.(736-738)gAc>gGc	p.D246G	PIGS_uc002hbn.2_Missense_Mutation_p.D238G|PIGS_uc010wap.1_Missense_Mutation_p.D185G	NM_033198	NP_149975	Q96S52	PIGS_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class S (PIGS), mRNA.	246					C-terminal protein lipidation|attachment of GPI anchor to protein	GPI-anchor transamidase complex	protein binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(42;0.00431)					CCCCTCAATGTCCCAGTAGAC	0.552000														28			17		0	0	1	0	0
RHBDL1	9028	broad.mit.edu	37	16	727827	727827	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:727827G>A	uc002cis.1	+	6	1119	c.1092G>A	c.(1090-1092)ccG>ccA	p.P364P	RHBDL1_uc002cir.1_Silent_p.P299P|RHBDL1_uc010uun.1_3'UTR|STUB1_uc002cit.3_5'Flank|STUB1_uc002ciu.3_5'Flank	NM_003961	NP_003952	O75783	RHBL1_HUMAN	Homo sapiens rhomboid, veinlet-like 1 (Drosophila) (RHBDL1), mRNA.	364					proteolysis|signal transduction	integral to plasma membrane|membrane fraction	calcium ion binding|serine-type endopeptidase activity			endometrium(1)|kidney(1)|lung(4)|urinary_tract(3)	9		Hepatocellular(780;0.0218)				TCTCCCCGCCGCTGCCCGCCT	0.736000														6			3		0	0	1	0	0
C3orf45	132228	broad.mit.edu	37	3	50324117	50324117	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:50324117G>A	uc003cyz.3	+	2	212	c.185G>A	c.(184-186)cGc>cAc	p.R62H		NM_153215	NP_694947	Q8N112	CC045_HUMAN	Homo sapiens chromosome 3 open reading frame 45 (C3orf45), mRNA.	62						integral to membrane		p.R62R(1)|p.L61L(1)		endometrium(2)|kidney(3)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		GGCACACTGCGCCCCTATCTA	0.632000														15			11		0	0	1	0	0
RXFP3	51289	broad.mit.edu	37	5	33937928	33937928	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:33937928G>T	uc003jic.2	+	0	1438	c.1083G>T	c.(1081-1083)caG>caT	p.Q361H		NM_016568	NP_057652	Q9NSD7	RL3R1_HUMAN	Homo sapiens relaxin/insulin-like family peptide receptor 3 (RXFP3), mRNA.	361						integral to plasma membrane	N-formyl peptide receptor activity			endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						CCTTCAGCCAGGAGTATTTCC	0.602000														54			6		0.00116845	0.00123466	1	1	0
BPI	671	broad.mit.edu	37	20	36962871	36962871	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:36962871A>G	uc002xib.2	+	12	1386	c.1324A>G	c.(1324-1326)Att>Gtt	p.I442V		NM_001725	NP_001716	P17213	BPI_HUMAN	Homo sapiens bactericidal/permeability-increasing protein (BPI), mRNA.	442					defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production	extracellular region|integral to plasma membrane	lipid binding|lipopolysaccharide binding			kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)				CATTGTACCCATTCTTGTGCT	0.512000														128			81		0	0	1	0	0
UHRF1BP1	54887	broad.mit.edu	37	6	34802047	34802047	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:34802047C>A	uc003oju.4	+	4	626	c.392C>A	c.(391-393)tCt>tAt	p.S131Y	UHRF1BP1_uc010jvm.2_Non-coding_Transcript|UHRF1BP1_uc010jvn.3_Non-coding_Transcript	NM_017754	NP_060224	Q6BDS2	URFB1_HUMAN	Homo sapiens UHRF1 binding protein 1 (UHRF1BP1), mRNA.	131										breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						ATTGTCAATTCTATCACCATC	0.453000														30			8		0.000442599	0.000473562	1	1	0
CYBRD1	79901	broad.mit.edu	37	2	172379134	172379134	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:172379134G>A	uc002ugy.4	+	0	269	c.79G>A	c.(79-81)Gcc>Acc	p.A27T	CYBRD1_uc002ugz.4_Missense_Mutation_p.A27T	NM_024843	NP_079119	Q53TN4	CYBR1_HUMAN	Homo sapiens cytochrome b reductase 1 (CYBRD1), transcript variant 1, mRNA.	27	Cytochrome b561.				cellular iron ion homeostasis|electron transport chain|transmembrane transport	integral to membrane	ferric-chelate reductase activity|metal ion binding			endometrium(1)|kidney(1)|large_intestine(3)|liver(2)|lung(3)	10						GGTGATCTTCGCCCTCGTCTG	0.642000														11			4		0	0	1	0	0
GTPBP10	85865	broad.mit.edu	37	7	90012310	90012310	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:90012310C>T	uc003ukm.2	+	8	895	c.818C>T	c.(817-819)gCa>gTa	p.A273V	GTPBP10_uc003ukn.2_Missense_Mutation_p.A194V|GTPBP10_uc003uko.2_Missense_Mutation_p.A83V|CLDN12_uc003ukp.3_5'Flank|CLDN12_uc003ukq.3_5'Flank	NM_033107	NP_149098	A4D1E9	GTPBA_HUMAN	Homo sapiens GTP-binding protein 10 (putative) (GTPBP10), transcript variant 2, mRNA.	273					ribosome biogenesis	chromosome|nucleolus	GTP binding|GTPase activity|magnesium ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(4)	10						ACAAAACCTGCACTCTTGGCA	0.353000														131			13		0	0	1	0	0
CPAMD8	27151	broad.mit.edu	37	19	17122306	17122306	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:17122306C>T	uc002nfb.3	-	4	627	c.595G>A	c.(595-597)Gtc>Atc	p.V199I		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA.	152						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						TTTGGAGAGACGGTGAAGATG	0.587000														76			52		0	0	1	0	0
COL6A5	256076	broad.mit.edu	37	3	130159148	130159148	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:130159148T>C	uc010htj.1	+	34	6460	c.5966T>C	c.(5965-5967)gTg>gCg	p.V1989A	COL6A5_uc010hti.1_Non-coding_Transcript|COL6A5_uc021xdz.1_Missense_Mutation_p.V28A|COL6A5_uc010htk.1_Missense_Mutation_p.V28A	NM_153264	NP_694996	A8TX70	CO6A5_HUMAN	Homo sapiens collagen, type VI, alpha 5 (COL6A5), mRNA.	1989	Nonhelical region.|VWFA 9.				axon guidance|cell adhesion	collagen				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						GTGAGCTCAGTGATTGACAAC	0.413000														15			14		0	0	1	0	0
GDPD4	220032	broad.mit.edu	37	11	76980946	76980946	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:76980946C>T	uc001oyf.3	-	6	711	c.460G>A	c.(460-462)Gta>Ata	p.V154I		NM_182833	NP_878253	Q6W3E5	GDPD4_HUMAN	Homo sapiens glycerophosphodiester phosphodiesterase domain containing 4 (GDPD4), mRNA.	154					glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	20						CTTGTGATTACATTACATTGC	0.328000														18			13		0	0	1	0	0
NUP98	4928	broad.mit.edu	37	11	3697536	3697536	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:3697536G>A	uc001lyh.3	-	32	5677	c.5256C>T	c.(5254-5256)tcC>tcT	p.S1752S	NUP98_uc001lyi.3_Silent_p.S1678S|NUP98_uc001lyg.3_Silent_p.S717S	NM_016320	NP_057404	P52948	NUP98_HUMAN	Homo sapiens nucleoporin 98kDa (NUP98), transcript variant 1, mRNA.	1769					DNA replication|carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|mitotic prometaphase|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	Nup107-160 complex|cytosol|nuclear membrane|nucleoplasm	protein binding|structural constituent of nuclear pore|transporter activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		GTGTTGAGTCGGAGGTTCTAT	0.562000			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML									66			38		0	0	1	0	0
EIF2C1	26523	broad.mit.edu	37	1	36354031	36354031	+	Missense_Mutation	SNP	C	T	T	rs146814747		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:36354031C>T	uc001bzl.3	+	1	242	c.29C>T	c.(28-30)gCg>gTg	p.A10V	EIF2C1_uc001bzk.3_5'UTR	NM_012199	NP_036331	Q9UL18	AGO1_HUMAN	Homo sapiens eukaryotic translation initiation factor 2C, 1 (EIF2C1), mRNA.	10					negative regulation of translation involved in gene silencing by miRNA|nuclear-transcribed mRNA catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|polysome	RNA binding|protein binding			biliary_tract(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|prostate(1)|skin(6)|urinary_tract(1)	36		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CTTGTAGCTGCGGGCGCTTAC	0.562000														33			32		0	0	1	0	0
OTOA	146183	broad.mit.edu	37	16	21726405	21726405	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:21726405C>A	uc002djh.3	+	12	1421	c.1420C>A	c.(1420-1422)Ctg>Atg	p.L474M	LOC23117_uc021tel.1_Intron|OTOA_uc010vbj.2_Missense_Mutation_p.L395M|OTOA_uc002dji.3_Missense_Mutation_p.L150M|OTOA_uc010vbk.2_Missense_Mutation_p.L122M	NM_144672	NP_653273	Q7RTW8	OTOAN_HUMAN	Homo sapiens otoancorin (OTOA), transcript variant 1, mRNA.	488					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		CTCGCAGGTCCTGAGAAGTGC	0.567000														224			14		0.000151284	0.000164177	1	1	0
ZNF160	90338	broad.mit.edu	37	19	53572973	53572973	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:53572973G>T	uc010eqk.3	-	6	1230	c.814C>A	c.(814-816)Ctt>Att	p.L272I	ZNF160_uc002qaq.4_Missense_Mutation_p.L272I|ZNF160_uc002qar.4_Missense_Mutation_p.L272I	NM_001102603	NP_942596	Q9HCG1	ZN160_HUMAN	Homo sapiens zinc finger protein 160 (ZNF160), transcript variant 3, mRNA.	272					hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		TGACTTGTAAGGTTCGAATTC	0.378000														130			8		9.70103e-10	1.16071e-09	1	1	0
KRT8	3856	broad.mit.edu	37	12	53293758	53293758	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:53293758G>T	uc009zmk.1	-	5	886	c.866C>A	c.(865-867)gCt>gAt	p.A289D	KRT8_uc001sbd.2_Missense_Mutation_p.A261D|KRT8_uc009zml.1_Missense_Mutation_p.A261D|KRT8_uc009zmm.1_Missense_Mutation_p.A261D	NM_002273	NP_002264	P05787	K2C8_HUMAN	Homo sapiens keratin 8 (KRT8), transcript variant 2, mRNA.	261	Coil 2.|Necessary for interaction with PNN.|Rod.				cytoskeleton organization|interspecies interaction between organisms	cytoplasm|keratin filament|nuclear matrix|nucleoplasm	protein binding|structural molecule activity			endometrium(5)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(357;0.108)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTTGACCTCAGCAATGATGCT	0.592000														24			11		1.49906e-05	1.66078e-05	1	1	0
ETNK2	55224	broad.mit.edu	37	1	204103686	204103686	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:204103686G>T	uc001han.4	-	6	1478	c.1151C>A	c.(1150-1152)cCt>cAt	p.P384H	ETNK2_uc010pqr.2_Missense_Mutation_p.L171I|ETNK2_uc001hao.4_Missense_Mutation_p.L349I|ETNK2_uc010pqs.2_Missense_Mutation_p.L308I|ETNK2_uc010pqt.2_Missense_Mutation_p.L171I			Q9NVF9	EKI2_HUMAN	Homo sapiens ethanolamine kinase 2 (ETNK2), mRNA.	76							ATP binding|choline kinase activity|ethanolamine kinase activity			breast(1)|central_nervous_system(1)|large_intestine(4)|ovary(1)	7	all_cancers(21;0.032)|Breast(84;0.116)|all_epithelial(62;0.196)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			TTCTGGATGAGGGCCCAGAGA	0.567000														37			13		1.5842e-08	1.86177e-08	1	1	0
GAA	2548	broad.mit.edu	37	17	78090861	78090861	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:78090861G>A	uc002jxp.3	+	15	2651	c.2284G>A	c.(2284-2286)Gaa>Aaa	p.E762K	GAA_uc002jxo.3_Missense_Mutation_p.E762K|GAA_uc002jxq.3_Missense_Mutation_p.E762K	NM_000152	NP_001073272	P10253	LYAG_HUMAN	Homo sapiens glucosidase, alpha; acid (GAA), transcript variant 1, mRNA.	762					cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity	p.E762D(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)	CGGGAAGGCCGAAGTGACTGG	0.647000														18			6		0	0	1	0	0
FDXR	2232	broad.mit.edu	37	17	72861912	72861912	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:72861912C>T	uc010wrl.2	-	5	754	c.667G>A	c.(667-669)Gtg>Atg	p.V223M	FDXR_uc010wri.2_Missense_Mutation_p.V128M|FDXR_uc010wrj.2_Missense_Mutation_p.V178M|FDXR_uc002jlw.3_5'UTR|FDXR_uc002jlx.3_Missense_Mutation_p.V180M|FDXR_uc002jly.3_Missense_Mutation_p.V180M|FDXR_uc010wrk.2_Missense_Mutation_p.V211M|FDXR_uc010wrm.2_Missense_Mutation_p.V140M|FDXR_uc002jlz.3_Missense_Mutation_p.V172M|FDXR_uc002jmb.3_Non-coding_Transcript	NM_024417	NP_077728	P22570	ADRO_HUMAN	Homo sapiens ferredoxin reductase (FDXR), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	180					cholesterol metabolic process|electron transport chain|steroid biosynthetic process|transport	mitochondrial matrix	ferredoxin-NADP+ reductase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16	all_lung(278;0.172)|Lung NSC(278;0.207)					CCCAGAATCACGGCTGTGTCA	0.642000														24			9		0	0	1	0	0
UBE2O	63893	broad.mit.edu	37	17	74395629	74395629	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:74395629G>A	uc002jrm.4	-	8	1594	c.1529C>T	c.(1528-1530)aCg>aTg	p.T510M	UBE2O_uc002jrn.4_Missense_Mutation_p.T510M|UBE2O_uc002jrl.4_Missense_Mutation_p.T113M	NM_022066	NP_071349	Q9C0C9	UBE2O_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2O (UBE2O), mRNA.	510							ATP binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						TTTGCGACTCGTGCCGCTGCC	0.547000														86			9		0	0	1	0	0
APOBEC3F	200316	broad.mit.edu	37	22	39483117	39483117	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:39483117C>T	uc021wpr.1	+	6	1419	c.1126C>T	c.(1126-1128)Cgg>Tgg	p.R376W	APOBEC3F_uc003awx.3_Missense_Mutation_p.R376W|APOBEC3F_uc003awy.3_Missense_Mutation_p.R309W	NM_021822	NP_068594	Q9HC16	ABC3G_HUMAN	Homo sapiens apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3G (APOBEC3G), mRNA.	376					DNA cytosine deamination|base conversion or substitution editing|innate immune response|interspecies interaction between organisms|negative regulation of retroviral genome replication|negative regulation of transposition|positive regulation of defense response to virus by host|response to virus|viral reproduction	apolipoprotein B mRNA editing enzyme complex|cytosol|mitochondrion	RNA binding|cytidine deaminase activity|dCTP deaminase activity|protein homodimerization activity|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|skin(2)	16	Melanoma(58;0.04)					TGGGAGGCTGCGGGCCATTCT	0.632000														41			11		0	0	1	0	0
KIF15	56992	broad.mit.edu	37	3	44893799	44893799	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:44893799C>T	uc003cnx.4	+	33	4221	c.4072C>T	c.(4072-4074)Cga>Tga	p.R1358*	KIF15_uc010hiq.3_Nonsense_Mutation_p.R1261*|KIF15_uc010hir.3_Nonsense_Mutation_p.R406*	NM_020242	NP_064627	Q9NS87	KIF15_HUMAN	Homo sapiens kinesin family member 15 (KIF15), mRNA.	1358					blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		GTACGTAGTGCGACTAAAGAA	0.358000														37			15		0	0	1	0	0
ZXDC	79364	broad.mit.edu	37	3	126178503	126178503	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:126178503G>A	uc003eiv.3	-	6	2259	c.2205C>T	c.(2203-2205)agC>agT	p.S735S	ZXDC_uc010hsh.3_Intron|ZXDC_uc003eix.2_3'UTR	NM_025112	NP_079388	Q2QGD7	ZXDC_HUMAN	Homo sapiens ZXD family zinc finger C (ZXDC), transcript variant 1, mRNA.	735					positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|LRR domain binding|identical protein 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)		CACCTGCATTGCTCCCCGCTC	0.537000														375			36		0	0	1	0	0
ARMC4	55130	broad.mit.edu	37	10	28233780	28233780	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:28233780T>C	uc009xky.3	-	10	1596	c.1498A>G	c.(1498-1500)Ata>Gta	p.I500V	ARMC4_uc010qds.2_Missense_Mutation_p.I25V|ARMC4_uc010qdt.2_Missense_Mutation_p.I192V|ARMC4_uc001itz.3_Missense_Mutation_p.I500V|ARMC4_uc010qdu.1_Missense_Mutation_p.I192V	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN	Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA.	500							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						AGCAAATTTATCAGCACTTCC	0.478000														50			7		0	0	1	0	0
RANBP1	5902	broad.mit.edu	37	22	20109792	20109792	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:20109792C>T	uc002zro.1	+	2	307	c.158C>T	c.(157-159)gCa>gTa	p.A53V	RANBP1_uc011ahl.1_Missense_Mutation_p.A53V|RANBP1_uc002zrp.3_Missense_Mutation_p.A53V|RANBP1_uc021wlq.1_Non-coding_Transcript	NM_002882	NP_002873	P43487	RANG_HUMAN	Homo sapiens RAN binding protein 1 (RANBP1), mRNA.	53	RanBD1.				intracellular transport|signal transduction|viral reproduction	nuclear envelope	GDP-dissociation inhibitor activity|GTPase activator activity|Ran GTPase binding			breast(1)|large_intestine(1)|lung(1)|ovary(1)	4	Colorectal(54;0.0993)					TGCAGGCGGGCAAAACTGTTC	0.577000														22			10		0	0	1	0	0
CUL4B	8450	broad.mit.edu	37	X	119678008	119678008	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:119678008G>A	uc004esw.3	-	8	1625	c.1188C>T	c.(1186-1188)ctC>ctT	p.L396L	CUL4B_uc010nqq.3_Silent_p.L95L|CUL4B_uc004esv.3_Silent_p.L378L	NM_003588	NP_003579	Q13620	CUL4B_HUMAN	Homo sapiens cullin 4B (CUL4B), transcript variant 1, mRNA.	396					DNA repair|cell cycle|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CAGCTGCATAGAGCCGGTTAG	0.333000														40			20		0	0	1	0	0
GABRR1	2569	broad.mit.edu	37	6	89891699	89891699	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:89891699C>T	uc003pna.2	-	7	1329	c.874G>A	c.(874-876)Gct>Act	p.A292T	GABRR1_uc011dzv.1_Missense_Mutation_p.A269T	NM_002042	NP_002033	P24046	GBRR1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) receptor, rho 1 (GABRR1), mRNA.	292					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity	p.A286T(3)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	35		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Picrotoxin(DB00466)	ATCAGGGTAGCGGGGAAATAA	0.507000														49			31		0	0	1	0	0
TSSK2	23617	broad.mit.edu	37	22	19119390	19119390	+	Missense_Mutation	SNP	C	T	T	rs144966098	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:19119390C>T	uc002zow.2	+	0	1070	c.478C>T	c.(478-480)Cgc>Tgc	p.R160C	DGCR14_uc002zou.3_3'UTR	NM_053006	NP_443732	Q96PF2	TSSK2_HUMAN	Homo sapiens testis-specific serine kinase 2 (TSSK2), mRNA.	160	Protein kinase.				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(2)|lung(2)|prostate(4)|stomach(1)	11	Colorectal(54;0.0993)					CTTCTCCAAGCGCTGCCTGCG	0.597000														55			35		0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21492725	21492725	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:21492725G>A	uc002kuq.3	+	55	7295	c.7209G>A	c.(7207-7209)ctG>ctA	p.L2403L	LAMA3_uc002kur.3_Silent_p.L2347L|LAMA3_uc002kus.4_Silent_p.L794L|LAMA3_uc002kut.4_Silent_p.L738L	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA.	2403	Laminin G-like 1.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AAGTCCGACTGCCAAATGACC	0.438000														42			23		0	0	1	0	0
SPTB	6710	broad.mit.edu	37	14	65264467	65264467	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:65264467G>T	uc001xht.3	-	8	1213	c.1162C>A	c.(1162-1164)Cta>Ata	p.L388I	SPTB_uc001xhr.3_Missense_Mutation_p.L388I|SPTB_uc001xhs.3_Missense_Mutation_p.L388I|SPTB_uc001xhu.3_Missense_Mutation_p.L388I	NM_000347	NP_000338	P11277	SPTB1_HUMAN	Homo sapiens spectrin, beta, erythrocytic (SPTB), transcript variant 2, mRNA.	388					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		TCAGACACTAGTTTCCCATCG	0.453000														109			9		1.12685e-05	1.25391e-05	1	1	0
CSMD2	114784	broad.mit.edu	37	1	34042963	34042963	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:34042963G>A	uc001bxm.1	-	48	7686	c.7509C>T	c.(7507-7509)agC>agT	p.S2503S	CSMD2_uc001bxn.1_Silent_p.S2505S	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	2505	Sushi 14.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				AGATGGCCATGCTGTGTCCCA	0.637000														45			22		0	0	1	0	0
GRK1	6011	broad.mit.edu	37	13	114325951	114325951	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:114325951A>G	uc010tkf.2	+	2	1070	c.965A>G	c.(964-966)aAc>aGc	p.N322S		NM_002929	NP_002920	Q15835	RK_HUMAN	Homo sapiens G protein-coupled receptor kinase 1 (GRK1), mRNA.	322	Protein kinase.				regulation of G-protein coupled receptor protein signaling pathway|rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway	membrane	ATP binding|G-protein coupled receptor kinase activity|rhodopsin kinase activity|signal transducer activity			ovary(2)	2	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839)	all cancers(43;0.234)			AAGCCCGAGAACGTGCTGCTG	0.473000														4			4		0	0	1	0	0
KRT6C	286887	broad.mit.edu	37	12	52867487	52867487	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:52867487C>T	uc001sal.4	-	0	83	c.35G>A	c.(34-36)aGc>aAc	p.S12N		NM_173086	NP_775109	P48668	K2C6C_HUMAN	Homo sapiens keratin 6C (KRT6C), mRNA.	12	Head.				cytoskeleton organization	keratin filament	structural molecule activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23				BRCA - Breast invasive adenocarcinoma(357;0.0828)		GCGGCTGCTGCTGTGGCTCCT	0.657000														17			9		0	0	1	0	0
EPC2	26122	broad.mit.edu	37	2	149522544	149522544	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:149522544G>A	uc010zbt.2	+	6	996	c.969G>A	c.(967-969)ttG>ttA	p.L323L		NM_015630	NP_056445	Q52LR7	EPC2_HUMAN	Homo sapiens enhancer of polycomb homolog 2 (Drosophila) (EPC2), mRNA.	323					DNA repair|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.0516)		ATTTGTCTTTGAAAGAAGAGG	0.383000														17			9		0	0	1	0	0
CD93	22918	broad.mit.edu	37	20	23065850	23065850	+	Missense_Mutation	SNP	G	A	A	rs144280933		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:23065850G>A	uc002wsv.3	-	0	1128	c.980C>T	c.(979-981)aCg>aTg	p.T327M		NM_012072	NP_036204	Q9NPY3	C1QR1_HUMAN	Homo sapiens CD93 molecule (CD93), mRNA.	327	EGF-like 2.				cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GCAGCGGCACGTGTAGTTTTT	0.627000														33			4		0	0	1	0	0
CD163L1	283316	broad.mit.edu	37	12	7556246	7556246	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:7556246A>G	uc010sge.2	-	5	1349	c.1323T>C	c.(1321-1323)atT>atC	p.I441I	CD163L1_uc001qsy.3_Silent_p.I431I	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA.	431	SRCR 4.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						TGTTTATCCAAATGTCTCTAG	0.463000														107			9		0	0	1	0	0
ZNF480	147657	broad.mit.edu	37	19	52825153	52825153	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:52825153G>T	uc010ydl.2	+	4	720	c.650G>T	c.(649-651)aGc>aTc	p.S217I	ZNF480_uc002pyv.3_Missense_Mutation_p.S140I|ZNF480_uc010ydm.2_Missense_Mutation_p.S174I|ZNF480_uc010epn.3_Missense_Mutation_p.S48I|AK097759_uc002pyw.1_Intron	NM_144684	NP_653285	Q8WV37	ZN480_HUMAN	Homo sapiens zinc finger protein 480 (ZNF480), mRNA.	217					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)		GTATCTTCCAGCCTTACTAAA	0.363000														54			24		2.21704e-12	2.7329e-12	1	1	0
MLL3	58508	broad.mit.edu	37	7	152012407	152012407	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:152012407A>G	uc003wla.3	-	3	625	c.406T>C	c.(406-408)Ttt>Ctt	p.F136L		NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	136					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	p.A135T(1)		NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		CAGTAACAAAAAGCGCAGAGC	0.368000			N		medulloblastoma									102			33		0	0	1	0	0
SLCO2A1	6578	broad.mit.edu	37	3	133653645	133653645	+	Missense_Mutation	SNP	G	A	A	rs148426132		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:133653645G>A	uc003eqa.4	-	13	2118	c.1844C>T	c.(1843-1845)gCg>gTg	p.A615V		NM_005630	NP_005621	Q92959	SO2A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 2A1 (SLCO2A1), mRNA.	615					sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30						CATGCCCAGCGCCTTGTAGCC	0.632000														23			12		0	0	1	0	0
EP300	2033	broad.mit.edu	37	22	41574836	41574836	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:41574836C>A	uc003azl.4	+	30	7516	c.7121C>A	c.(7120-7122)tCt>tAt	p.S2374Y		NM_001429	NP_001420	Q09472	EP300_HUMAN	Homo sapiens E1A binding protein p300 (EP300), mRNA.	2374					DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|N-terminal peptidyl-lysine acetylation|apoptosis|cell cycle|histone H4 acetylation|interspecies interaction between organisms|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	DNA binding|RNA polymerase II activating transcription factor binding|androgen receptor binding|beta-catenin binding|histone acetyltransferase activity|transcription coactivator activity|zinc ion binding	p.S2374Y(2)		NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						TCAATGCTTTCTCAGCTTGCT	0.547000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome					17			19		2.35188e-11	2.87337e-11	1	1	0
MON2	23041	broad.mit.edu	37	12	62949858	62949858	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:62949858C>T	uc001sre.3	+	24	3686	c.3295C>T	c.(3295-3297)Ctc>Ttc	p.L1099F	MON2_uc010ssn.2_Missense_Mutation_p.L1099F|MON2_uc009zqj.3_Missense_Mutation_p.L1099F|MON2_uc010ssl.2_Missense_Mutation_p.L1027F|MON2_uc010ssm.2_Missense_Mutation_p.L1076F|MON2_uc001srf.3_Missense_Mutation_p.L862F	NM_015026	NP_055841	Q7Z3U7	MON2_HUMAN	Homo sapiens MON2 homolog (S. cerevisiae) (MON2), mRNA.	1100					Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		TGGCAATATTCTCATTCATCA	0.418000														22			14		0	0	1	0	0
BATF	10538	broad.mit.edu	37	14	75991505	75991505	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:75991505A>G	uc001xrr.3	+	1	384	c.142A>G	c.(142-144)Aca>Gca	p.T48A		NM_006399	NP_006390	Q16520	BATF_HUMAN	Homo sapiens basic leucine zipper transcription factor, ATF-like (BATF), mRNA.	48						nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|ovary(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(234;0.028)		ACAGAGGCAGACACAGAAGGC	0.547000														15			7		0	0	1	0	0
TCTN2	79867	broad.mit.edu	37	12	124179474	124179474	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:124179474T>C	uc001ufp.3	+	9	1313	c.1185T>C	c.(1183-1185)agT>agC	p.S395S	TCTN2_uc009zya.3_Silent_p.S394S	NM_024809	NP_079085	Q96GX1	TECT2_HUMAN	Homo sapiens tectonic family member 2 (TCTN2), transcript variant 1, mRNA.	395					cilium assembly|smoothened signaling pathway	integral to membrane				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)		ATACCATCAGTGAAATAAATG	0.318000														69			12		0	0	1	0	0
RAB11FIP1	80223	broad.mit.edu	37	8	37728878	37728878	+	Missense_Mutation	SNP	G	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:37728878G>C	uc003xkm.2	-	3	3498	c.3442C>G	c.(3442-3444)Ctc>Gtc	p.L1148V	RAB11FIP1_uc003xkn.2_Intron|RAB11FIP1_uc003xkl.2_Missense_Mutation_p.L477V|RAB11FIP1_uc003xko.1_Missense_Mutation_p.L477V|RAB11FIP1_uc003xkp.1_Intron	NM_001002814	NP_001002814	Q6WKZ4	RFIP1_HUMAN	Homo sapiens RAB11 family interacting protein 1 (class I) (RAB11FIP1), transcript variant 3, mRNA.	1148					protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			GCCTGGAGGAGTGGCTTCCTC	0.552000											OREG0018713	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		66			37		0	0	1	0	0
PEX10	5192	broad.mit.edu	37	1	2340118	2340118	+	Nonsense_Mutation	SNP	G	A	A	rs61750434		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:2340118G>A	uc001ajg.3	-	2	442	c.373C>T	c.(373-375)Cga>Tga	p.R125*	PEX10_uc001ajh.3_Nonsense_Mutation_p.R125*	NM_153818	NP_722540	O60683	PEX10_HUMAN	Homo sapiens peroxisomal biogenesis factor 10 (PEX10), transcript variant 1, mRNA.	125					protein import into peroxisome matrix	integral to peroxisomal membrane|peroxisomal membrane	protein C-terminus binding|protein binding|zinc ion binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(2)	7	all_cancers(77;0.000247)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;5.35e-20)|all_lung(118;2.78e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.1e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.02e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00102)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0169)|Lung(427;0.199)		TGCAAGGGTCGCCCACTGTCG	0.706000														13			4		0	0	1	0	0
ADRBK2	157	broad.mit.edu	37	22	26063737	26063737	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:26063737G>A	uc003abx.4	+	5	620	c.473G>A	c.(472-474)cGa>cAa	p.R158Q	ADRBK2_uc010gux.3_Missense_Mutation_p.R158Q|ADRBK2_uc003abw.2_Missense_Mutation_p.R45Q|ADRBK2_uc003aby.4_Non-coding_Transcript	NM_005160	NP_005151	P35626	ARBK2_HUMAN	Homo sapiens adrenergic, beta, receptor kinase 2 (ADRBK2), mRNA.	158	N-terminal.|RGS.						ATP binding|beta-adrenergic receptor kinase activity|signal transducer activity	p.L157I(1)		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)	GAAAGCCTTCGAGGTGACATT	0.323000														39			5		0	0	1	0	0
ARGFX	503582	broad.mit.edu	37	3	121305164	121305164	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:121305164C>A	uc003eef.3	+	4	760	c.665C>A	c.(664-666)tCt>tAt	p.S222Y		NM_001012659	NP_001012677	A6NJG6	ARGFX_HUMAN	Homo sapiens arginine-fifty homeobox (ARGFX), mRNA.	222						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(114;0.152)		GCTTTGTACTCTGATGCCTAT	0.448000														128			11		0.000978159	0.00103832	1	1	0
SMTN	6525	broad.mit.edu	37	22	31485987	31485987	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:31485987G>T	uc003ajl.2	+	6	1015	c.774G>T	c.(772-774)gaG>gaT	p.E258D	SMTN_uc003ajk.2_Missense_Mutation_p.E258D|SMTN_uc003ajm.2_Missense_Mutation_p.E258D|SMTN_uc011ale.2_Missense_Mutation_p.E312D|SMTN_uc011alf.2_Missense_Mutation_p.E314D|SMTN_uc003ajn.2_Missense_Mutation_p.E250D|SMTN_uc011alg.2_5'Flank	NM_006932	NP_008863	P53814	SMTN_HUMAN	Homo sapiens smoothelin (SMTN), transcript variant 3, mRNA.	258	Pro-rich.				muscle organ development|smooth muscle contraction	actin cytoskeleton|cytoplasm	actin binding|structural constituent of muscle			breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						CCAGCACTGAGGGCCAGGTGG	0.642000														11			3		0.115264	0.116841	1	1	0
ENPP1	5167	broad.mit.edu	37	6	132211485	132211485	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:132211485G>T	uc011ecf.2	+	24	2632	c.2612G>T	c.(2611-2613)gGg>gTg	p.G871V		NM_006208	NP_006199	P22413	ENPP1_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1), mRNA.	871	Nuclease.				3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	TCCTAGCATGGGAAGCATGAC	0.398000														76			9		3.86212e-05	4.23294e-05	1	1	0
SYNJ1	8867	broad.mit.edu	37	21	34074316	34074316	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:34074316C>T	uc002yqh.2	-	2	283	c.283G>A	c.(283-285)Gta>Ata	p.V95I	SYNJ1_uc011ads.1_Missense_Mutation_p.V56I|SYNJ1_uc002yqf.2_Missense_Mutation_p.V56I|SYNJ1_uc002yqg.2_Missense_Mutation_p.V56I|SYNJ1_uc002yqi.2_Missense_Mutation_p.V95I	NM_003895	NP_003886	O43426	SYNJ1_HUMAN	Homo sapiens synaptojanin 1 (SYNJ1), transcript variant 1, mRNA.	56							RNA binding|inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						GCATCCAGTACTTTGGAGTAT	0.323000														77			46		0	0	1	0	0
C9orf84	158401	broad.mit.edu	37	9	114518719	114518719	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:114518719G>T	uc004bfr.3	-	5	691	c.556C>A	c.(556-558)Cca>Aca	p.P186T	C9orf84_uc011lwt.2_Non-coding_Transcript|C9orf84_uc004bfs.1_Missense_Mutation_p.P250T|C9orf84_uc004bfq.3_Missense_Mutation_p.P147T|C9orf84_uc010mug.3_Missense_Mutation_p.P132T	NM_173521	NP_775792	Q5VXU9	CI084_HUMAN	Homo sapiens chromosome 9 open reading frame 84 (C9orf84), transcript variant 1, mRNA.	186										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						TTGAGGCTTGGAGGTATTAAG	0.308000														56			8		1.06961e-07	1.2399e-07	1	1	0
LIPH	200879	broad.mit.edu	37	3	185234927	185234927	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:185234927C>A	uc003fpm.3	-	6	1020	c.910G>T	c.(910-912)Gac>Tac	p.D304Y	LIPH_uc010hyh.3_Missense_Mutation_p.D270Y	NM_139248	NP_640341	Q8WWY8	LIPH_HUMAN	Homo sapiens lipase, member H (LIPH), mRNA.	304					lipid catabolic process	extracellular space|plasma membrane	heparin binding|phospholipase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(2)	20	all_cancers(143;8.87e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			CTTAGATGGTCTTTCCAATTA	0.378000														82			39		8.69298e-16	1.09754e-15	1	1	0
SOCS6	9306	broad.mit.edu	37	18	67992683	67992683	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:67992683G>A	uc002lkr.1	+	1	1095	c.779G>A	c.(778-780)cGc>cAc	p.R260H	SOCS6_uc010dqq.2_Missense_Mutation_p.R260H|SOCS6_uc021ulj.1_Missense_Mutation_p.R260H	NM_004232	NP_004223	O14544	SOCS6_HUMAN	Homo sapiens suppressor of cytokine signaling 6 (SOCS6), mRNA.	260					JAK-STAT cascade|defense response|negative regulation of signal transduction|regulation of growth	cytoplasm				NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	22		Esophageal squamous(42;0.129)|Colorectal(73;0.152)				GTGGGAGGGCGCGCTTTCCCC	0.547000														40			29		0	0	1	0	0
SPDYE6	729597	broad.mit.edu	37	7	101988938	101988938	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:101988938C>T	uc011kkp.2	-	5	1356	c.935G>A	c.(934-936)cGt>cAt	p.R312H	DQ601342_uc022aje.1_5'Flank	NM_001146210	NP_001139682	P0CI01	SPDE6_HUMAN	Homo sapiens speedy homolog E6 (Xenopus laevis) (SPDYE6), mRNA.	312	Arg-rich.																CTGGAACCGACGCTTACGGAG	0.567000														322			39		0	0	1	0	0
USO1	8615	broad.mit.edu	37	4	76708250	76708250	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:76708250T>C	uc003hiu.3	+	8	913	c.738T>C	c.(736-738)ccT>ccC	p.P246P	USO1_uc003hiv.3_Silent_p.P132P|USO1_uc003hiw.3_Silent_p.P132P	NM_003715	NP_003706	O60763	USO1_HUMAN	Homo sapiens USO1 vesicle docking protein homolog (yeast) (USO1), mRNA.	297	Globular head.				intracellular protein transport|vesicle fusion with Golgi apparatus	Golgi membrane|cytosol	protein binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			CCAACCCTCCTGGTGCTACCA	0.438000														81			6		0	0	1	0	0
UQCRC1	7384	broad.mit.edu	37	3	48638221	48638221	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:48638221C>A	uc003cub.1	-	8	1064	c.1019G>T	c.(1018-1020)aGt>aTt	p.S340I		NM_003365	NP_003356	P31930	QCR1_HUMAN	Homo sapiens ubiquinol-cytochrome c reductase core protein I (UQCRC1), mRNA.	340					aerobic respiration|proteolysis		metalloendopeptidase activity|ubiquinol-cytochrome-c reductase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	Atovaquone(DB01117)	GGTCTGGAAACTCTGGCATAG	0.547000														51			4		0.00024832	0.000267289	1	1	0
RAD17	5884	broad.mit.edu	37	5	68687668	68687668	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:68687668C>T	uc003jwo.3	+	9	1112	c.1050C>T	c.(1048-1050)aaC>aaT	p.N350N	RAD17_uc003jwg.3_Silent_p.N339N|RAD17_uc003jwi.3_Silent_p.N339N|RAD17_uc003jwh.3_Silent_p.N339N|RAD17_uc003jwj.3_Silent_p.N339N|RAD17_uc003jwk.3_Silent_p.N339N|RAD17_uc003jwl.3_Silent_p.N339N|RAD17_uc003jwm.3_Silent_p.N174N|RAD17_uc003jwn.3_Silent_p.N253N	NM_133339	NP_579917	O75943	RAD17_HUMAN	Homo sapiens RAD17 homolog (S. pombe) (RAD17), transcript variant 2, mRNA.	350					DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint|cell cycle|mitotic cell cycle checkpoint|negative regulation of DNA replication|regulation of phosphorylation	nucleoplasm	ATP binding|nucleoside-triphosphatase activity|protein binding						Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183)		GAGAAAACAACTTACGGCCAA	0.289000								Other conserved DNA damage response genes						71			10		0	0	1	0	0
TMX3	54495	broad.mit.edu	37	18	66381119	66381119	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:66381119A>G	uc002lkf.3	-	1	200	c.65T>C	c.(64-66)gTc>gCc	p.V22A	CCDC102B_uc002lkk.2_5'Flank|TMX3_uc010xez.2_5'UTR|TMX3_uc010xfa.1_Missense_Mutation_p.V22A|TMX3_uc002lkg.4_Missense_Mutation_p.V22A|CCDC102B_uc002lkh.2_5'Flank	NM_019022	NP_061895	Q96JJ7	TMX3_HUMAN	Homo sapiens thioredoxin-related transmembrane protein 3 (TMX3), mRNA.	22					cell redox homeostasis|glycerol ether metabolic process	endoplasmic reticulum membrane|integral to membrane	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	17						TTTACAGACGACCATATCAAG	0.284000														9			7		0	0	1	0	0
PKN2	5586	broad.mit.edu	37	1	89271345	89271345	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:89271345C>T	uc001dmn.3	+	10	2009	c.1667C>T	c.(1666-1668)cCt>cTt	p.P556L	PKN2_uc010osp.2_Missense_Mutation_p.P540L|PKN2_uc010osq.2_Missense_Mutation_p.P399L|PKN2_uc009wcv.3_Missense_Mutation_p.P508L|PKN2_uc010osr.2_Missense_Mutation_p.P221L	NM_006256	NP_006247	Q16513	PKN2_HUMAN	Homo sapiens protein kinase N2 (PKN2), mRNA.	556					signal transduction	cytoplasm	ATP binding|histone deacetylase binding|protein kinase C activity			breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1)	33		Lung NSC(277;0.123)		all cancers(265;0.0136)|Epithelial(280;0.0301)		CAACTAGCACCTCCAGCTAGG	0.438000														41			15		0	0	1	0	0
CACNA1D	776	broad.mit.edu	37	3	53835325	53835325	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:53835325G>A	uc003dgv.4	+	41	5444	c.5281G>A	c.(5281-5283)Gcc>Acc	p.A1761T	CACNA1D_uc003dgu.4_Missense_Mutation_p.A1781T|CACNA1D_uc003dgy.4_Missense_Mutation_p.A1746T|CACNA1D_uc003dgw.4_Missense_Mutation_p.A1428T|CACNA1D_uc011bes.2_Non-coding_Transcript	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1D subunit (CACNA1D), transcript variant 2, mRNA.	1761					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	TCTCAATAATGCCAATATGTC	0.468000														30			20		0	0	1	0	0
B4GALNT4	338707	broad.mit.edu	37	11	380183	380183	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:380183C>T	uc001lpb.3	+	16	2705	c.2696C>T	c.(2695-2697)gCg>gTg	p.A899V		NM_178537	NP_848632	Q76KP1	B4GN4_HUMAN	Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 4 (B4GALNT4), mRNA.	899						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGGCTGCAGGCGGGAGTGGAC	0.711000														21			4		0	0	1	0	0
C20orf195	79025	broad.mit.edu	37	20	62187216	62187216	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:62187216G>A	uc002yfj.3	+	1	292	c.200G>A	c.(199-201)cGc>cAc	p.R67H	C20orf195_uc021wgc.1_Missense_Mutation_p.R67H	NM_024059	NP_076964	Q9BVV2	CT195_HUMAN	Homo sapiens chromosome 20 open reading frame 195 (C20orf195), mRNA.	67										large_intestine(3)|lung(4)	7	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			CACCACGCCCGCATGCAGCTG	0.647000														16			14		0	0	1	0	0
BCL9	607	broad.mit.edu	37	1	147090775	147090775	+	Missense_Mutation	SNP	C	T	T	rs143556015	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:147090775C>T	uc001epq.3	+	7	1554	c.814C>T	c.(814-816)Cgt>Tgt	p.R272C	BCL9_uc010ozr.1_Missense_Mutation_p.R198C	NM_004326	NP_004317	O00512	BCL9_HUMAN	Homo sapiens B-cell CLL/lymphoma 9 (BCL9), mRNA.	272	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					CGCACCCCCACGTCCCCTGGA	0.612000			T	"""IGH@, IGL@"""	B-ALL									34			11		0	0	1	0	0
CACNA1I	8911	broad.mit.edu	37	22	40057154	40057154	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:40057154C>A	uc003ayc.3	+	15	2740	c.2740C>A	c.(2740-2742)Ctg>Atg	p.L914M	CACNA1I_uc003ayd.3_Missense_Mutation_p.L879M|CACNA1I_uc003aye.3_Missense_Mutation_p.L829M|CACNA1I_uc003ayf.3_Missense_Mutation_p.L794M	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1I subunit (CACNA1I), transcript variant 1, mRNA.	914					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	CAATGGGCACCTGGACCCCAG	0.647000														19			9		0.000442599	0.000473562	1	1	0
DBR1	51163	broad.mit.edu	37	3	137890476	137890476	+	Splice_Site	SNP	T	G	G	rs34737927		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:137890476T>G	uc003erv.3	-	3	557	c.403_splice	c.e3+1	p.G135_splice	DBR1_uc003eru.3_Splice_Site_p.G84_splice	NM_016216	NP_057300	Q9UK59	DBR1_HUMAN	Homo sapiens debranching enzyme homolog 1 (S. cerevisiae) (DBR1), mRNA.	135						nucleus	RNA lariat debranching enzyme activity|metal ion binding			NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						AAACAATACCTTTTCGATAGT	0.338000														59			7		0	0	1	0	0
TLR3	7098	broad.mit.edu	37	4	187005843	187005843	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:187005843T>C	uc003iyq.3	+	4	2632	c.2531T>C	c.(2530-2532)cTg>cCg	p.L844P	TLR3_uc011ckz.2_Missense_Mutation_p.L567P|TLR3_uc003iyr.3_Missense_Mutation_p.L567P	NM_003265	NP_003256	O15455	TLR3_HUMAN	Homo sapiens toll-like receptor 3 (TLR3), mRNA.	844	TIR.				I-kappaB phosphorylation|MyD88-independent toll-like receptor signaling pathway|activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|inflammatory response|innate immune response|negative regulation of osteoclast differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		GAACAAAATCTGGATTCCATT	0.338000														21			27		0	0	1	0	0
CAPN9	10753	broad.mit.edu	37	1	230891088	230891088	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:230891088C>T	uc001htz.1	+	1	332	c.219C>T	c.(217-219)atC>atT	p.I73I	CAPN9_uc009xfg.1_Intron|CAPN9_uc001hua.1_Silent_p.I73I	NM_006615	NP_006606	O14815	CAN9_HUMAN	Homo sapiens calpain 9 (CAPN9), transcript variant 1, mRNA.	73	Calpain catalytic.				digestion|proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)				TCCAGGAAATCGTGAAAAACC	0.537000														39			11		0	0	1	0	0
KLKB1	3818	broad.mit.edu	37	4	187153431	187153431	+	Missense_Mutation	SNP	A	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:187153431A>T	uc003iyy.3	+	2	280	c.209A>T	c.(208-210)gAc>gTc	p.D70V	KLKB1_uc011clc.2_5'UTR|KLKB1_uc011cld.2_Missense_Mutation_p.D32V	NM_000892	NP_000883	P03952	KLKB1_HUMAN	Homo sapiens kallikrein B, plasma (Fletcher factor) 1 (KLKB1), mRNA.	70	Apple 1.				Factor XII activation|blood coagulation, intrinsic pathway|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		TCAATCAATGACATGGAGAAA	0.398000														58			19		0	0	1	0	0
IQCD	115811	broad.mit.edu	37	12	113633583	113633583	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:113633583G>A	uc001tuu.3	-	2	1013	c.841C>T	c.(841-843)Cgg>Tgg	p.R281W		NM_138451	NP_612460	Q96DY2	IQCD_HUMAN	Homo sapiens IQ motif containing D (IQCD), mRNA.	274										endometrium(2)|large_intestine(4)|lung(1)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						TTGATCTCCCGCTCTTCCCGG	0.597000														51			36		0	0	1	0	0
TNPO2	30000	broad.mit.edu	37	19	12821552	12821552	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:12821552T>C	uc002mup.3	-	10	1891	c.1429A>G	c.(1429-1431)Aat>Gat	p.N477D	TNPO2_uc002muq.3_Missense_Mutation_p.N385D|TNPO2_uc002muo.3_Missense_Mutation_p.N385D|TNPO2_uc002mur.3_Missense_Mutation_p.N385D	NM_013433	NP_038461	O14787	TNPO2_HUMAN	Homo sapiens transportin 2 (TNPO2), transcript variant 2, mRNA.	385					intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CGGAAGACATTGGCGAGGACG	0.652000														4			8		0	0	1	0	0
AP3M1	26985	broad.mit.edu	37	10	75896419	75896419	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:75896419A>G	uc001jwf.3	-	2	846	c.416T>C	c.(415-417)aTt>aCt	p.I139T	AP3M1_uc001jwg.3_Missense_Mutation_p.I139T|AP3M1_uc001jwh.3_Missense_Mutation_p.I139T|AP3M1_uc010qla.2_Intron	NM_207012	NP_996895	Q9Y2T2	AP3M1_HUMAN	Homo sapiens adaptor-related protein complex 3, mu 1 subunit (AP3M1), transcript variant 1, mRNA.	139					protein targeting to lysosome|vesicle-mediated transport	Golgi apparatus|clathrin adaptor complex|lysosome	protein binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	13	Prostate(51;0.0112)					AGAGCGTAGAATTGTTGGTGG	0.338000														53			4		0	0	1	0	0
TRIP11	9321	broad.mit.edu	37	14	92471958	92471958	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:92471958C>T	uc001xzy.3	-	10	2736	c.2362G>A	c.(2362-2364)Gac>Aac	p.D788N	TRIP11_uc010auf.2_Missense_Mutation_p.D524N	NM_004239	NP_004230	Q15643	TRIPB_HUMAN	Homo sapiens thyroid hormone receptor interactor 11 (TRIP11), mRNA.	788					transcription from RNA polymerase II promoter	Golgi apparatus|cytoskeleton|membrane|nucleus	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		TCTTTATGGTCAGTATCCATT	0.318000			T	PDGFRB	AML									112			50		0	0	1	0	0
SPPL2C	162540	broad.mit.edu	37	17	43922633	43922633	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:43922633G>A	uc010wka.2	+	0	378	c.361G>A	c.(361-363)Gtg>Atg	p.V121M	MAPT-AS1_uc010wjz.2_Intron	NM_175882	NP_787078	Q8IUH8	IMP5_HUMAN	Homo sapiens intramembrane protease 5 (IMP5), mRNA.	121						integral to membrane	aspartic-type endopeptidase activity										GCTGCTCATCGTGAGCCGGGT	0.652000														19			13		0	0	1	0	0
LOC442132	442132	broad.mit.edu	37	5	7303912	7303912	+	RNA	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:7303912G>T	uc003jdy.2	-	4		c.442C>A								Homo sapiens golgin A6 family-like 1 pseudogene (LOC442132), non-coding RNA.																		TGACACTTAAGGATTCGTATG	0.483000														17			3		1	1	1	1	0
VARS	7407	broad.mit.edu	37	6	31750377	31750377	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31750377G>T	uc003nxe.3	-	15	2344	c.1921C>A	c.(1921-1923)Ctg>Atg	p.L641M	VARS_uc021yuy.1_5'Flank|VARS_uc011doi.1_Non-coding_Transcript	NM_006295	NP_006286	P26640	SYVC_HUMAN	Homo sapiens valyl-tRNA synthetase (VARS), nuclear gene encoding mitochondrial protein, mRNA.	641					translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	AGCGCCACCAGCACCGCTTTC	0.642000														24			3		0.004672	0.00486265	1	1	0
FAM20C	56975	broad.mit.edu	37	7	195656	195656	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:195656C>T	uc003sip.3	+	1	939	c.708C>T	c.(706-708)taC>taT	p.Y236Y		NM_020223	NP_064608	Q8IXL6	DMP4_HUMAN	Homo sapiens family with sequence similarity 20, member C (FAM20C), mRNA.	236						extracellular region				endometrium(1)|lung(2)|urinary_tract(1)	4		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.57e-17)|Epithelial(4;1.26e-16)|all cancers(6;4.79e-14)		TCAACCGGTACGAGCTGTACT	0.617000														24			51		0	0	1	0	0
MYH11	4629	broad.mit.edu	37	16	15814801	15814801	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:15814801T>G	uc002ddx.3	-	33	4814	c.4707A>C	c.(4705-4707)aaA>aaC	p.K1569N	MYH11_uc002ddv.3_Missense_Mutation_p.K1569N|MYH11_uc002ddw.3_Missense_Mutation_p.K1562N|MYH11_uc002ddy.3_Missense_Mutation_p.K1562N|MYH11_uc010bvg.3_Missense_Mutation_p.K1394N|NDE1_uc010uzy.2_Intron|NDE1_uc002dds.3_Intron|MYH11_uc010bvh.3_Missense_Mutation_p.K268N|NDE1_uc002ddz.1_5'Flank	NM_001040114	NP_001035203	P35749	MYH11_HUMAN	Homo sapiens myosin, heavy chain 11, smooth muscle (MYH11), transcript variant SM1B, mRNA.	1562					axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle	p.N1568K(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						CCAGCCGCAGTTTGGCGTCCT	0.602000			T	CBFB	AML									72			30		0	0	1	0	0
PLEKHG4B	153478	broad.mit.edu	37	5	169510	169510	+	Missense_Mutation	SNP	C	T	T	rs149174138	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:169510C>T	uc003jak.2	+	11	2514	c.2464C>T	c.(2464-2466)Cgg>Tgg	p.R822W		NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 4B (PLEKHG4B), mRNA.	822	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	p.R822R(1)|p.R13R(1)		endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		GGAGTACATTCGGTGCTTAGG	0.552000														79			43		0	0	1	0	0
GRIA2	2891	broad.mit.edu	37	4	158257812	158257812	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:158257812G>T	uc003ipm.4	+	10	2216	c.1757G>T	c.(1756-1758)aGt>aTt	p.S586I	GRIA2_uc011cit.2_Missense_Mutation_p.S539I|GRIA2_uc003ipl.4_Missense_Mutation_p.S586I|GRIA2_uc003ipk.4_Missense_Mutation_p.S539I|GRIA2_uc010iqh.1_Non-coding_Transcript	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 2 (GRIA2), transcript variant 2, mRNA.	586					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	ACACAAAGTAGTGAATCAACT	0.433000														107			12		3.07112e-06	3.45634e-06	1	1	0
ZSCAN10	84891	broad.mit.edu	37	16	3139434	3139434	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:3139434G>A	uc002ctv.1	-	4	1924	c.1836C>T	c.(1834-1836)tgC>tgT	p.C612C	ZSCAN10_uc002cty.1_Silent_p.C273C|ZSCAN10_uc002ctw.1_Silent_p.C530C|ZSCAN10_uc002ctx.1_Silent_p.C540C	NM_032805	NP_116194	Q96SZ4	ZSC10_HUMAN	Homo sapiens zinc finger and SCAN domain containing 10 (ZSCAN10), mRNA.	612					negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						AACGGTGGCCGCAGGTGTCGC	0.711000														17			17		0	0	1	0	0
MLL2	8085	broad.mit.edu	37	12	49442974	49442974	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:49442974G>A	uc001rta.4	-	11	3934	c.3934C>T	c.(3934-3936)Cgc>Tgc	p.R1312C		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	1312	Arg-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						CGAGGCCGGCGTCTTCCTGGG	0.547000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				9			5		0	0	1	0	0
CHERP	10523	broad.mit.edu	37	19	16631278	16631278	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:16631278G>A	uc002nei.1	-	13	2316	c.2242C>T	c.(2242-2244)Cgt>Tgt	p.R748C	MED26_uc002nee.2_Intron|C19orf44_uc002neh.1_3'UTR|C19orf44_uc010eai.1_Non-coding_Transcript|CHERP_uc010xpg.1_Missense_Mutation_p.R287C	NM_006387	NP_006378	Q8IWX8	CHERP_HUMAN	Homo sapiens calcium homeostasis endoplasmic reticulum protein (CHERP), mRNA.	748	Arg-rich.				RNA processing|cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding	p.R748C(2)|p.G747E(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						GAGGAAGAACGCCCTCGACTC	0.622000														141			20		0	0	1	0	0
PDE1C	5137	broad.mit.edu	37	7	32209518	32209518	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:32209518C>A	uc003tco.2	-	2	223	c.187G>T	c.(187-189)Ggg>Tgg	p.G63W		NM_001191058	NP_001177987	Q14123	PDE1C_HUMAN	Homo sapiens phosphodiesterase 1C, calmodulin-dependent 70kDa (PDE1C), transcript variant 3, mRNA.	0					activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			TTGACATTCCCTGTGAGCCCA	0.517000														154			9		0.000673444	0.000715966	1	1	0
KIAA1109	84162	broad.mit.edu	37	4	123109181	123109181	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:123109181G>A	uc003ieh.3	+	6	804	c.759G>A	c.(757-759)aaG>aaA	p.K253K	KIAA1109_uc003iei.1_Silent_p.K7K	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	Homo sapiens KIAA1109 (KIAA1109), mRNA.	253					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TGAAAGGAAAGCTTGAAAATG	0.323000														62			4		0	0	1	0	0
SFSWAP	6433	broad.mit.edu	37	12	132212924	132212924	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:132212924C>T	uc001uja.1	+	6	1172	c.1032C>T	c.(1030-1032)aaC>aaT	p.N344N	SFSWAP_uc010tbn.1_Silent_p.N344N|SFSWAP_uc001ujb.1_Silent_p.N137N|SFSWAP_uc001uiz.1_Silent_p.N218N	NM_004592	NP_004583	Q12872	SFSWA_HUMAN	Homo sapiens splicing factor, suppressor of white-apricot homolog (Drosophila) (SFSWAP), mRNA.	344					mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	RNA binding|protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						CCCCACACAACGCAGACGGTG	0.572000														46			25		0	0	1	0	0
ZAP70	7535	broad.mit.edu	37	2	98351726	98351726	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:98351726G>A	uc002syd.1	+	9	1303	c.1096G>A	c.(1096-1098)Gtg>Atg	p.V366M	ZAP70_uc010yvf.1_3'UTR|ZAP70_uc002sye.1_Missense_Mutation_p.V256M|ZAP70_uc002syf.1_Missense_Mutation_p.V59M	NM_001079	NP_997402	P43403	ZAP70_HUMAN	Homo sapiens zeta-chain (TCR) associated protein kinase 70kDa (ZAP70), transcript variant 1, mRNA.	366	Protein kinase.				T cell receptor signaling pathway|immune response|intracellular protein kinase cascade|positive thymic T cell selection	T cell receptor complex|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						GCAGATCGACGTGGCCATCAA	0.662000														41			29		0	0	1	0	0
SLC11A2	4891	broad.mit.edu	37	12	51390746	51390746	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:51390746C>T	uc001rxk.2	-	8	822	c.772G>A	c.(772-774)Gtg>Atg	p.V258M	SLC11A2_uc001rxd.4_Missense_Mutation_p.V78M|SLC11A2_uc001rxf.3_Non-coding_Transcript|SLC11A2_uc001rxe.4_Missense_Mutation_p.V229M|SLC11A2_uc001rxc.4_Missense_Mutation_p.V229M|SLC11A2_uc001rxg.2_5'Flank|SLC11A2_uc010smx.2_Missense_Mutation_p.V225M|SLC11A2_uc001rxh.2_Missense_Mutation_p.V229M|SLC11A2_uc010smy.2_Missense_Mutation_p.V192M|SLC11A2_uc001rxj.2_Missense_Mutation_p.V229M|SLC11A2_uc001rxi.3_Missense_Mutation_p.V229M	NM_001174125	NP_001167596	P49281	NRAM2_HUMAN	Homo sapiens solute carrier family 11 (proton-coupled divalent metal ion transporters), member 2 (SLC11A2), transcript variant 1, mRNA.	229					activation of caspase activity|cellular iron ion homeostasis|cellular response to oxidative stress|detection of oxygen|ferrous iron import|multicellular organismal iron ion homeostasis|response to hypoxia|response to iron ion	apical plasma membrane|basal part of cell|cell surface|cytoplasmic vesicle|early endosome|late endosome|late endosome membrane|lysosomal membrane|lysosome|nucleus|paraferritin complex|perinuclear region of cytoplasm|plasma membrane|recycling endosome|trans-Golgi network	cadmium ion transmembrane transporter activity|cobalt ion transmembrane transporter activity|copper ion transmembrane transporter activity|ferrous iron transmembrane transporter activity|lead ion transmembrane transporter activity|manganese ion transmembrane transporter activity|nickel ion transmembrane transporter activity|protein binding|solute:hydrogen symporter activity|vanadium ion transmembrane transporter activity|zinc ion transmembrane transporter activity			breast(2)|cervix(1)|endometrium(3)|kidney(16)|large_intestine(4)|lung(9)|upper_aerodigestive_tract(1)	36						CTGGGTTTCACTGTAACATAC	0.483000														38			4		0	0	1	0	0
TULP1	7287	broad.mit.edu	37	6	35477678	35477678	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:35477678G>T	uc003okv.4	-	5	539	c.527C>A	c.(526-528)cCg>cAg	p.P176Q	TULP1_uc003okw.4_Missense_Mutation_p.P123Q|TULP1_uc021yyx.1_Missense_Mutation_p.P176Q|TULP1_uc021yyy.1_Missense_Mutation_p.P176Q	NM_003322	NP_003313	O00294	TULP1_HUMAN	Homo sapiens tubby like protein 1 (TULP1), mRNA.	176					dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis	cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse	actin filament binding|phosphatidylinositol-4,5-bisphosphate binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	19						CAGAGGTTTCGGTGGGGGGTC	0.567000														110			8		0.000157383	0.000170012	1	1	0
PDCL3	79031	broad.mit.edu	37	2	101183071	101183071	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:101183071G>A	uc002tao.2	+	1	225	c.113G>A	c.(112-114)cGc>cAc	p.R38H		NM_024065	NP_076970	Q9H2J4	PDCL3_HUMAN	Homo sapiens phosducin-like 3 (PDCL3), mRNA.	38					apoptosis|interspecies interaction between organisms	cytoplasm	protein binding			endometrium(3)|large_intestine(2)|liver(1)|lung(6)	12						GAGGAGCAGCGCATCCTCCAG	0.527000														24			17		0	0	1	0	0
C5orf24	134553	broad.mit.edu	37	5	134190879	134190879	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:134190879A>G	uc003kzx.3	+	1	350	c.289A>G	c.(289-291)Acc>Gcc	p.T97A	C5orf24_uc003kzy.4_Missense_Mutation_p.T97A|C5orf24_uc003kzz.3_Missense_Mutation_p.T97A|C5orf24_uc021yds.1_Missense_Mutation_p.T97A	NM_152409	NP_689622	Q7Z6I8	CE024_HUMAN	Homo sapiens chromosome 5 open reading frame 24 (C5orf24), transcript variant 2, mRNA.	97										breast(2)|endometrium(2)|lung(2)	6			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TTCGGGAACCACCAAATCAGC	0.493000														53			18		0	0	1	0	0
VMA21	203547	broad.mit.edu	37	X	150572153	150572153	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:150572153C>A	uc004feu.3	+	1	228	c.104C>A	c.(103-105)gCt>gAt	p.A35D		NM_001017980	NP_001017980	Q3ZAQ7	VMA21_HUMAN	Homo sapiens VMA21 vacuolar H+-ATPase homolog (S. cerevisiae) (VMA21), mRNA.	35					vacuolar proton-transporting V-type ATPase complex assembly	COPII vesicle coat|ER-Golgi intermediate compartment membrane|endoplasmic reticulum membrane|integral to membrane|lysosome				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)	7						TTCTTCACAGCTTTAATGATC	0.348000														191			106		2.11273e-47	2.81441e-47	1	1	0
OVOS2	0	broad.mit.edu	37	12	31269385	31269385	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:31269385C>T	uc010sjy.1	-	28	3913	c.3913G>A	c.(3913-3915)Gtt>Att	p.V1305I	OVOS2_uc001rjy.3_Non-coding_Transcript|OVOS2_uc001rjz.3_Non-coding_Transcript					RecName: Full=Ovostatin homolog 2; Flags: Precursor;													all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					GGTAGGAGAACATTGTACTTA	0.358000														35			23		0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1155652	1155652	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:1155652G>A	uc021qbr.1	+	3	387	c.340G>A	c.(340-342)Gcc>Acc	p.A114T				Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	110	VWFD 1.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CTGCGGTGCCGCCTACGAGGA	0.627000														9			8		0	0	1	0	0
TNFRSF10B	8795	broad.mit.edu	37	8	22900721	22900721	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:22900721G>A	uc003xcu.2	-	1	473	c.180C>T	c.(178-180)gaC>gaT	p.D60D	TNFRSF10B_uc011kzq.1_Intron|TNFRSF10B_uc003xcv.2_5'UTR|TNFRSF10B_uc003xct.2_Silent_p.D60D	NM_003842	NP_003833	O14763	TR10B_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 10b (TNFRSF10B), transcript variant 1, mRNA.	60					activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cell surface receptor linked signaling pathway|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|positive regulation of I-kappaB kinase/NF-kappaB cascade	plasma membrane	TRAIL binding|caspase activator activity|receptor activity			NS(1)|endometrium(2)|large_intestine(7)|liver(1)|lung(3)|skin(1)	15		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0179)|COAD - Colon adenocarcinoma(73;0.0703)		GGGGAGCTAGGTCTTGTTGGG	0.572000														20			12		0	0	1	0	0
PPP2R5D	5528	broad.mit.edu	37	6	42975016	42975016	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:42975016C>T	uc003oth.3	+	4	691	c.605C>T	c.(604-606)aCc>aTc	p.T202I	MEA1_uc010jyc.1_Intron|PPP2R5D_uc010jyd.3_Missense_Mutation_p.T96I|PPP2R5D_uc011dva.2_Missense_Mutation_p.T51I|PPP2R5D_uc003oti.3_Missense_Mutation_p.T51I|PPP2R5D_uc021yzq.1_Missense_Mutation_p.T170I|PPP2R5D_uc003otj.3_Missense_Mutation_p.T51I	NM_006245	NP_006236	Q14738	2A5D_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B', delta (PPP2R5D), transcript variant 1, mRNA.	202					nervous system development|signal transduction	cytoplasm|nucleus|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	25			Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			GATGAGCCCACCCTGGAAGCT	0.612000														65			36		0	0	1	0	0
IGSF3	3321	broad.mit.edu	37	1	117156618	117156618	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:117156618C>A	uc001egq.1	-	3	1306	c.601G>T	c.(601-603)Gat>Tat	p.D201Y	IGSF3_uc001egr.1_Missense_Mutation_p.D201Y	NM_001542	NP_001533	O75054	IGSF3_HUMAN	Homo sapiens immunoglobulin superfamily, member 3 (IGSF3), transcript variant 1, mRNA.	201	Ig-like C2-type 2.					integral to membrane		p.R200R(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		AGCATGAAATCTCGGCTCAGG	0.612000														53			5		0.000602214	0.000641151	1	1	0
STXBP5L	9515	broad.mit.edu	37	3	121126116	121126116	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:121126116G>A	uc003eec.4	+	23	2826	c.2686G>A	c.(2686-2688)Gtg>Atg	p.V896M	STXBP5L_uc011bji.2_Missense_Mutation_p.V872M	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA.	896					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		GAAAGGAGCTGTGCTAACATT	0.363000														47			21		0	0	1	0	0
MAML3	55534	broad.mit.edu	37	4	140810709	140810709	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:140810709G>T	uc021xsg.1	-	1	2633	c.1881C>A	c.(1879-1881)ccC>ccA	p.P627P	MAML3_uc011chd.1_Intron	NM_018717	NP_061187	Q96JK9	MAML3_HUMAN	Homo sapiens mastermind-like 3 (Drosophila) (MAML3), mRNA.	623	Gln-rich.				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	p.N626T(1)		breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					ACGGCATCAAGGGGTTTTTGT	0.562000														120			7		0.00198382	0.00208369	1	1	0
GABPB1	2553	broad.mit.edu	37	15	50570879	50570879	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:50570879G>A	uc001zyb.3	-	8	1562	c.1138C>T	c.(1138-1140)Cag>Tag	p.Q380*	GABPB1_uc001zya.3_Nonsense_Mutation_p.Q368*|GABPB1_uc010ufg.2_Nonsense_Mutation_p.Q304*	NM_005254	NP_005245	Q06547	GABP1_HUMAN	Homo sapiens GA binding protein transcription factor, beta subunit 1 (GABPB1), transcript variant beta-1, mRNA.	380					positive regulation of transcription from RNA polymerase II promoter	nucleus	protein binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			cervix(1)|endometrium(1)|large_intestine(7)|lung(5)	14						TCCAACTTCTGTCTGTAGGCC	0.383000														86			10		0	0	1	0	0
KIF20B	9585	broad.mit.edu	37	10	91518496	91518496	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:91518496A>G	uc001kgs.1	+	26	4609	c.4537A>G	c.(4537-4539)Agt>Ggt	p.S1513G	KIF20B_uc001kgr.1_Missense_Mutation_p.S1473G|KIF20B_uc001kgt.1_Missense_Mutation_p.S724G|KIF20B_uc009xtw.1_Non-coding_Transcript	NM_016195	NP_057279	Q96Q89	KI20B_HUMAN	Homo sapiens kinesin family member 20B (KIF20B), mRNA.	1513					cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|WW domain binding|microtubule motor activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						AGAGAAAGATAGTGACCTTCA	0.338000														14			6		0	0	1	0	0
ZNF496	84838	broad.mit.edu	37	1	247492846	247492846	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:247492846G>A	uc009xgv.3	-	0	72	c.35C>T	c.(34-36)cCg>cTg	p.P12L	ZNF496_uc001ico.3_Missense_Mutation_p.P12L|ZNF496_uc010pyv.1_Missense_Mutation_p.P12L	NM_032752	NP_116141	Q96IT1	ZN496_HUMAN	Homo sapiens zinc finger protein 496 (ZNF496), mRNA.	12					positive regulation of transcription, DNA-dependent|viral reproduction		DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			ACTTTCCTTCGGAGCCAAGAC	0.592000														76			43		0	0	1	0	0
FCGR3B	2215	broad.mit.edu	37	1	161599807	161599807	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:161599807A>G	uc009wul.3	-	2	448	c.188T>C	c.(187-189)gTg>gCg	p.V63A	FCGR3B_uc021pdo.1_Missense_Mutation_p.V27A	NM_001244753	NP_001231682	O75015	FCG3B_HUMAN	Homo sapiens Fc fragment of IgG, low affinity IIIb, receptor (CD16b) (FCGR3B), transcript variant 1, mRNA.	27	Ig-like C2-type 1.				immune response	anchored to membrane|extracellular region|plasma membrane	IgG binding|receptor activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	18	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CAGGAACACCACAGCCTTTGG	0.562000														25			18		0	0	1	0	0
ASL	435	broad.mit.edu	37	7	65554633	65554633	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:65554633C>A	uc003tup.3	+	12	1248	c.1013C>A	c.(1012-1014)aCt>aAt	p.T338N	ASL_uc003tuo.3_Missense_Mutation_p.T338N|ASL_uc003tur.3_Missense_Mutation_p.T312N|ASL_uc003tuq.3_Missense_Mutation_p.T318N	NM_001024943	NP_001020114	P04424	ARLY_HUMAN	Homo sapiens argininosuccinate lyase (ASL), transcript variant 1, mRNA.	338					arginine biosynthetic process via ornithine|arginine catabolic process|urea cycle	cytosol	argininosuccinate lyase activity			breast(3)|endometrium(3)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	18					L-Arginine(DB00125)	GTGTCAGACACTATGAGTGCC	0.637000														28			15		0.146539	0.148518	1	1	0
MTM1	4534	broad.mit.edu	37	X	149809827	149809827	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:149809827C>T	uc004fef.4	+	7	690	c.614C>T	c.(613-615)cCg>cTg	p.P205L	MTM1_uc011mxx.2_Non-coding_Transcript|MTM1_uc011mxy.2_Missense_Mutation_p.P168L|MTM1_uc011mxz.2_Missense_Mutation_p.P90L|MTM1_uc010nte.3_Missense_Mutation_p.P73L	NM_000252	NP_000243	Q13496	MTM1_HUMAN	Homo sapiens myotubularin 1 (MTM1), mRNA.	205	Myotubularin phosphatase.		P -> L (in XCNM; severe; dramatic decrease in phosphatase activity; abolishes interaction with DES).		endosome to lysosome transport|intermediate filament organization|mitochondrion distribution|mitochondrion morphogenesis|phosphatidylinositol dephosphorylation|protein transport|regulation of vacuole organization	filopodium|late endosome|plasma membrane|ruffle	intermediate filament binding|phosphatidylinositol binding|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Acute lymphoblastic leukemia(192;6.56e-05)					TTGGTGGTTCCGTATCGTGCC	0.438000														80			46		0	0	1	0	0
SPG20	23111	broad.mit.edu	37	13	36909330	36909330	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:36909330G>A	uc001uvn.3	-	2	908	c.638C>T	c.(637-639)aCc>aTc	p.T213I	SPG20_uc010ten.2_Missense_Mutation_p.T213I|SPG20_uc001uvm.3_Missense_Mutation_p.T213I|SPG20_uc001uvo.3_Missense_Mutation_p.T213I|SPG20_uc001uvq.3_Missense_Mutation_p.T213I|SPG20_uc001uvp.2_Missense_Mutation_p.T213I	NM_001142296	NP_055902	Q8N0X7	SPG20_HUMAN	Homo sapiens spastic paraplegia 20 (Troyer syndrome) (SPG20), transcript variant 2, mRNA.	213					cell death	cytoplasm	ubiquitin protein ligase binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	27		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)		CAGCCCTAAGGTCTCAAGAGG	0.443000														38			27		0	0	1	0	0
DAAM1	23002	broad.mit.edu	37	14	59730237	59730237	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:59730237C>A	uc001xdz.1	+	1	167	c.42C>A	c.(40-42)atC>atA	p.I14I	DAAM1_uc001xea.1_Silent_p.I14I|DAAM1_uc001xeb.1_Silent_p.I14I|DAAM1_uc001xdy.3_Silent_p.I14I	NM_014992	NP_055807	Q9Y4D1	DAAM1_HUMAN	Homo sapiens dishevelled associated activator of morphogenesis 1 (DAAM1), mRNA.	14					actin cytoskeleton organization	cytoplasm|plasma membrane	Rho GTPase binding|actin binding			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		TTTCATTCATCTTTTGCTGTT	0.438000														86			10		0.00136819	0.00144449	1	1	0
GLS2	27165	broad.mit.edu	37	12	56867069	56867069	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56867069G>A	uc001slj.3	-	13	1671	c.1392C>T	c.(1390-1392)gaC>gaT	p.D464D	GLS2_uc021qzb.1_Silent_p.D427D|GLS2_uc021qzc.1_Non-coding_Transcript|GLS2_uc021qzd.1_Silent_p.D199D|GLS2_uc009zos.3_Non-coding_Transcript|GLS2_uc001slk.3_Silent_p.D199D|GLS2_uc009zot.3_Silent_p.D125D	NM_013267	NP_037399	Q9UI32	GLSL_HUMAN	Homo sapiens glutaminase 2 (liver, mitochondrial) (GLS2), nuclear gene encoding mitochondrial protein, mRNA.	464					cellular amino acid biosynthetic process|glutamate secretion|glutamine metabolic process|neurotransmitter secretion	mitochondrial matrix	glutaminase activity|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	GCCTCAGGTTGTCATAGTTGT	0.423000														30			22		0	0	1	0	0
PCDHB2	56133	broad.mit.edu	37	5	140474606	140474606	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140474606C>T	uc003lil.3	+	0	370	c.232C>T	c.(232-234)Cag>Tag	p.Q78*	PCDHB2_uc003lim.1_Intron	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	Homo sapiens protocadherin beta 2 (PCDHB2), mRNA.	78	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AATGCATTTGCAGTTCGATAG	0.512000														39			15		0	0	1	0	0
GTF3C1	2975	broad.mit.edu	37	16	27508992	27508992	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:27508992G>A	uc002dov.2	-	13	2356	c.2316C>T	c.(2314-2316)ggC>ggT	p.G772G	GTF3C1_uc002dou.3_Silent_p.G772G	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 1, alpha 220kDa (GTF3C1), mRNA.	772						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						GCGGGGTTATGCCCATTTTAT	0.418000														65			27		0	0	1	0	0
TNR	7143	broad.mit.edu	37	1	175360539	175360539	+	Silent	SNP	G	A	A	rs148973031		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:175360539G>A	uc001gkp.1	-	4	1473	c.1392C>T	c.(1390-1392)agC>agT	p.S464S	TNR_uc009wwu.1_Silent_p.S464S	NM_003285	NP_003276	Q92752	TENR_HUMAN	Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA.	464	Fibronectin type-III 2.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		p.S464S(6)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					ACGTAACATCGCTGGGGACCT	0.522000														21			17		0	0	1	0	0
KIAA1211	57482	broad.mit.edu	37	4	57181518	57181518	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:57181518C>T	uc003hbk.2	+	7	2241	c.1850C>T	c.(1849-1851)gCg>gTg	p.A617V	KIAA1211_uc010iha.2_Missense_Mutation_p.A610V|KIAA1211_uc011bzz.1_Missense_Mutation_p.A527V|KIAA1211_uc003hbm.1_Missense_Mutation_p.A503V	NM_020722	NP_065773	Q6ZU35	K1211_HUMAN	Homo sapiens KIAA1211 (KIAA1211), mRNA.	617										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					AAGGACACCGCGTGCAAGTCC	0.701000														13			10		0	0	1	0	0
FZD6	8323	broad.mit.edu	37	8	104342067	104342067	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:104342067A>G	uc003ylh.3	+	5	2016	c.1726A>G	c.(1726-1728)Act>Gct	p.T576A	FZD6_uc011lhn.2_Missense_Mutation_p.T544A|FZD6_uc003ylj.3_Missense_Mutation_p.T576A|FZD6_uc011lho.2_Missense_Mutation_p.T271A|FZD6_uc011lhp.2_Missense_Mutation_p.T521A	NM_001164615	NP_001158088	O60353	FZD6_HUMAN	Homo sapiens frizzled family receptor 6 (FZD6), transcript variant 2, mRNA.	576					G-protein signaling, coupled to cGMP nucleotide second messenger|angiogenesis|axonogenesis|cell proliferation in midbrain|establishment of planar polarity|gonad development|inner ear morphogenesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|neural tube closure|non-canonical Wnt receptor signaling pathway	apical part of cell|apicolateral plasma membrane|cytoplasm|integral to plasma membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)			AGTAGCAATTACTAGCCATGA	0.463000														31			4		0	0	1	0	0
SBSPON	157869	broad.mit.edu	37	8	73982067	73982067	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:73982067C>T	uc003xzf.3	-	3	855	c.650G>A	c.(649-651)tGt>tAt	p.C217Y		NM_153225	NP_694957	Q8IVN8	RPESP_HUMAN	Homo sapiens chromosome 8 open reading frame 84 (C8orf84), mRNA.	217					immune response	extracellular region	polysaccharide binding|scavenger receptor activity										ATCTCCAGAACAACGAAGGCT	0.478000														26			14		0	0	1	0	0
EPB41L5	57669	broad.mit.edu	37	2	120834640	120834640	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:120834640C>T	uc002tmg.3	+	7	790	c.599C>T	c.(598-600)gCt>gTt	p.A200V	EPB41L5_uc010flk.3_Missense_Mutation_p.A200V|EPB41L5_uc010fll.3_Missense_Mutation_p.A200V|EPB41L5_uc002tmh.4_Missense_Mutation_p.A200V|EPB41L5_uc010flm.3_Missense_Mutation_p.A4V	NM_020909	NP_065960	Q9HCM4	E41L5_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1 like 5 (EPB41L5), transcript variant 1, mRNA.	200	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1)	26						ATGGAACTGGCTATTTTTGAG	0.373000														155			16		0	0	1	0	0
KRTAP4-9	100132386	broad.mit.edu	37	17	39261783	39261783	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:39261783G>T	uc010wfp.2	+	0	143	c.143G>T	c.(142-144)aGc>aTc	p.S48I		NM_001146041	NP_001139513	Q9BYQ8	KRA49_HUMAN	Homo sapiens keratin associated protein 4-9 (KRTAP4-9), mRNA.	48	29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP].					keratin filament				central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						TGTGTATCCAGCTGCTGCAGG	0.652000														36			4		0.0477658	0.0485825	1	1	0
WDR63	126820	broad.mit.edu	37	1	85547045	85547045	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:85547045C>A	uc001dkt.3	+	3	423	c.232C>A	c.(232-234)Ctg>Atg	p.L78M	WDR63_uc009wcl.3_Missense_Mutation_p.L78M	NM_145172	NP_660155	Q8IWG1	WDR63_HUMAN	Homo sapiens WD repeat domain 63 (WDR63), mRNA.	78										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		TTTTGAGGACCTGCGCAACAG	0.383000														105			49		2.84144e-21	3.67631e-21	1	1	0
DYM	54808	broad.mit.edu	37	18	46570554	46570554	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:46570554G>A	uc002ldi.1	-	16	2246	c.1881C>T	c.(1879-1881)ttC>ttT	p.F627F	DYM_uc010xdf.1_Silent_p.F437F	NM_017653	NP_060123	Q7RTS9	DYM_HUMAN	Homo sapiens dymeclin (DYM), mRNA.	627						Golgi apparatus				NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	18						CCACATATTTGAATTTCAATT	0.433000														86			45		0	0	1	0	0
GSTA5	221357	broad.mit.edu	37	6	52699064	52699064	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:52699064C>T	uc003pba.1	-	4	359	c.289G>A	c.(289-291)Gaa>Aaa	p.E97K		NM_153699	NP_714543	Q7RTV2	GSTA5_HUMAN	Homo sapiens glutathione S-transferase alpha 5 (GSTA5), mRNA.	97	GST C-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Lung NSC(77;0.0912)				Glutathione(DB00143)	ACTATACCTTCTGTGTACATA	0.348000														68			49		0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	34078053	34078053	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:34078053G>A	uc001zhi.3	+	65	9529	c.9459G>A	c.(9457-9459)ctG>ctA	p.L3153L	RYR3_uc010bar.3_Silent_p.L3153L	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	3153					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CTGAGAACCTGCCCCCCAGCA	0.567000														180			11		0	0	1	0	0
TRPC4AP	26133	broad.mit.edu	37	20	33632378	33632378	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:33632378C>T	uc002xbk.3	-	6	829	c.795G>A	c.(793-795)acG>acA	p.T265T	TRPC4AP_uc010zur.2_Silent_p.T226T|TRPC4AP_uc002xbl.3_Silent_p.T265T|TRPC4AP_uc002xbm.1_Silent_p.T265T	NM_015638	NP_056453	Q8TEL6	TP4AP_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 4 associated protein (TRPC4AP), transcript variant 1, mRNA.	265	Interaction with TNFRSF1A (By similarity).				protein ubiquitination|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	protein binding			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|skin(1)|stomach(1)|urinary_tract(1)	32			BRCA - Breast invasive adenocarcinoma(18;0.00936)			TGGCAAGAAGCGTGTGCTTGT	0.448000														96			47		0	0	1	0	0
WDR77	79084	broad.mit.edu	37	1	111989719	111989719	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:111989719C>T	uc001ebb.3	-	3	530	c.491G>A	c.(490-492)cGa>cAa	p.R164Q	WDR77_uc010owe.2_Intron|WDR77_uc021orq.1_Missense_Mutation_p.R164Q|ATP5F1_uc009wgf.1_5'Flank|ATP5F1_uc001ebc.3_5'Flank	NM_024102	NP_077007	Q9BQA1	MEP50_HUMAN	Homo sapiens WD repeat domain 77 (WDR77), mRNA.	164					ncRNA metabolic process|spliceosomal snRNP assembly	cytosol|nucleus	ligand-dependent nuclear receptor transcription coactivator activity|protein binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		all_cancers(81;0.000902)|all_epithelial(167;0.00056)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0238)|Colorectal(144;0.0296)|all cancers(265;0.0488)|Epithelial(280;0.0732)|COAD - Colon adenocarcinoma(174;0.114)|LUSC - Lung squamous cell carcinoma(189;0.135)		ATACTCACCTCGGTATGAACT	0.398000														86			34		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140745793	140745793	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140745793G>A	uc003lju.2	+	0	1896	c.1896G>A	c.(1894-1896)ctG>ctA	p.L632L	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc011das.2_Silent_p.L632L	NM_018918	NP_061741	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 5 (PCDHGA5), transcript variant 1, mRNA.	634	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)			CGCGAGCCCTGCTGGACAGAG	0.677000														95			7		0	0	1	0	0
PDSS1	23590	broad.mit.edu	37	10	26998656	26998656	+	Silent	SNP	G	A	A	rs149274703	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:26998656G>A	uc001isv.3	+	4	472	c.426G>A	c.(424-426)gcG>gcA	p.A142A	PDSS1_uc001isw.3_Silent_p.A142A	NM_014317	NP_055132	Q5T2R2	DPS1_HUMAN	Homo sapiens prenyl (decaprenyl) diphosphate synthase, subunit 1 (PDSS1), mRNA.	142				A -> V (in Ref. 1; AAD28559).	isoprenoid biosynthetic process|ubiquinone biosynthetic process	mitochondrion	metal ion binding|protein heterodimerization activity			autonomic_ganglia(1)|endometrium(1)|kidney(7)|large_intestine(6)|lung(5)|prostate(1)	21						TTATTGTGGCGCTAATGGCCC	0.398000														77			58		0	0	1	0	0
ZNF335	63925	broad.mit.edu	37	20	44590717	44590717	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:44590717G>A	uc002xqw.3	-	9	1761	c.1638C>T	c.(1636-1638)agC>agT	p.S546S	ZNF335_uc010zxk.2_Silent_p.S391S	NM_022095	NP_071378	Q9H4Z2	ZN335_HUMAN	Homo sapiens zinc finger protein 335 (ZNF335), mRNA.	546					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				ACCGGTCCCGGCTGTGCACAG	0.622000														41			26		0	0	1	0	0
HPX	3263	broad.mit.edu	37	11	6459619	6459619	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6459619C>T	uc001mdg.2	-	4	518	c.457G>A	c.(457-459)Gaa>Aaa	p.E153K	HPX_uc009yfc.2_Non-coding_Transcript	NM_000613	NP_000604	P02790	HEMO_HUMAN	Homo sapiens hemopexin (HPX), mRNA.	153					cellular iron ion homeostasis|interspecies interaction between organisms	extracellular space	heme transporter activity|metal ion binding|protein binding			endometrium(1)|large_intestine(2)|lung(11)|prostate(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19)		GCTTGACATTCTCCACGGTGA	0.512000														157			7		0	0	1	0	0
ZNF860	344787	broad.mit.edu	37	3	32030954	32030954	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:32030954T>C	uc011axg.2	+	1	932	c.383T>C	c.(382-384)aTg>aCg	p.M128T	ZNF860_uc021wuv.1_Missense_Mutation_p.M128T	NM_001137674	NP_001131146	A6NHJ4	ZN860_HUMAN	Homo sapiens zinc finger protein 860 (ZNF860), mRNA.	128					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|lung(4)|ovary(1)	8						GAAGCAACTATGACACAAATC	0.383000														52			4		0	0	1	0	0
SMURF1	57154	broad.mit.edu	37	7	98645338	98645338	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:98645338C>T	uc003upu.2	-	10	1539	c.1199G>A	c.(1198-1200)cGc>cAc	p.R400H	SMURF1_uc003upv.2_Missense_Mutation_p.R374H|SMURF1_uc003upt.3_Missense_Mutation_p.R374H	NM_020429	NP_065162	Q9HCE7	SMUF1_HUMAN	Homo sapiens SMAD specific E3 ubiquitin protein ligase 1 (SMURF1), transcript variant 1, mRNA.	400					BMP signaling pathway|cell differentiation|ectoderm development|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein export from nucleus|protein localization at cell surface|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|plasma membrane	I-SMAD binding|R-SMAD binding|activin binding|ubiquitin-protein ligase activity			endometrium(3)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|urinary_tract(1)	25	all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224)			CACTTCGATGCGGCAATGACC	0.498000														62			64		0	0	1	0	0
IGSF22	283284	broad.mit.edu	37	11	18736140	18736140	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:18736140G>A	uc009yht.2	-	11	1753	c.1563C>T	c.(1561-1563)tcC>tcT	p.S521S	IGSF22_uc001mpa.2_Non-coding_Transcript	NM_173588	NP_775859	Q8N9C0	IGS22_HUMAN	Homo sapiens immunoglobulin superfamily, member 22 (IGSF22), mRNA.	521										NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						CGTGCACGTCGGACATCCCGC	0.602000														57			6		0	0	1	0	0
MYO5B	4645	broad.mit.edu	37	18	47480773	47480773	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:47480773C>A	uc002leb.2	-	12	1866	c.1578G>T	c.(1576-1578)caG>caT	p.Q526H	MYO5B_uc021ukb.1_Missense_Mutation_p.Q525H	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	Homo sapiens myosin VB (MYO5B), mRNA.	526	Myosin head-like.				protein transport	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		CATAGAGCTTCTGAGCCCAGT	0.567000														31			11		2.27111e-07	2.61452e-07	1	1	0
PRADC1	84279	broad.mit.edu	37	2	73455931	73455931	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:73455931G>A	uc002siy.3	-	3	506	c.438C>T	c.(436-438)ggC>ggT	p.G146G		NM_032319	NP_115695	Q9BSG0	PADC1_HUMAN	Homo sapiens protease-associated domain containing 1 (PRADC1), mRNA.	146	PA.					extracellular region				endometrium(1)|large_intestine(1)|lung(2)	4						ACCCGTCTCGGCCGAGCAGGA	0.587000														20			12		0	0	1	0	0
SLITRK3	22865	broad.mit.edu	37	3	164908014	164908014	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:164908014T>C	uc003fej.4	-	1	1049	c.605A>G	c.(604-606)gAc>gGc	p.D202G	SLITRK3_uc003fek.3_Missense_Mutation_p.D202G|SLITRK3_uc021xgy.1_Missense_Mutation_p.D202G	NM_014926	NP_055741	O94933	SLIK3_HUMAN	Homo sapiens SLIT and NTRK-like family, member 3 (SLITRK3), mRNA.	202						integral to membrane		p.D202G(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						TCCACGTAGGTCCAAATGGGT	0.408000										HNSCC(40;0.11)				51			4		0	0	1	0	0
NAP1L4	4676	broad.mit.edu	37	11	2981014	2981014	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:2981014A>C	uc010qxm.2	-	9	1016	c.732T>G	c.(730-732)atT>atG	p.I244M	NAP1L4_uc001lxc.3_Missense_Mutation_p.I244M|NAP1L4_uc010qxn.2_Missense_Mutation_p.I244M	NM_005969	NP_005960	Q99733	NP1L4_HUMAN	Homo sapiens nucleosome assembly protein 1-like 4 (NAP1L4), mRNA.	244					nucleosome assembly	chromatin assembly complex|cytoplasm	unfolded protein binding			endometrium(2)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)	13		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00301)|LUSC - Lung squamous cell carcinoma(625;0.211)		CACAGTCCACAATCTCAGGAC	0.373000														46			18		0	0	1	0	0
ALX3	257	broad.mit.edu	37	1	110607237	110607237	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:110607237C>T	uc001dzb.3	-	1	654	c.566G>A	c.(565-567)cGc>cAc	p.R189H		NM_006492	NP_006483	O95076	ALX3_HUMAN	Homo sapiens ALX homeobox 3 (ALX3), mRNA.	189						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6		all_cancers(81;2.35e-05)|all_epithelial(167;7.69e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.015)|all cancers(265;0.0706)|Epithelial(280;0.0758)|Colorectal(144;0.113)|LUSC - Lung squamous cell carcinoma(189;0.135)		CAGGTCTGTGCGCAGGGCCAG	0.592000														33			8		0	0	1	0	0
GBA	2629	broad.mit.edu	37	1	155188193	155188193	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155188193C>T	uc001fjd.3	-	1	249	c.105G>A	c.(103-105)tcG>tcA	p.S35S	GBA_uc001fjf.4_Intron|GBA_uc001fje.4_5'UTR|GBA_uc021pau.1_Intron			P04062	GLCM_HUMAN	Homo sapiens glucosidase, beta, acid pseudogene 1 (GBAP1), non-coding RNA.	35					carbohydrate metabolic process|cell death|cellular response to tumor necrosis factor|ceramide biosynthetic process|glucosylceramide catabolic process|lysosome organization|negative regulation of MAP kinase activity|negative regulation of interleukin-6 production|positive regulation of protein dephosphorylation|sphingosine biosynthetic process|termination of signal transduction	lysosomal lumen|lysosomal membrane	cation binding|glucosylceramidase activity|receptor binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	26	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		Alglucerase(DB00088)|Imiglucerase(DB00053)	CTGATGCCCACGACACTGCCT	0.542000									Gaucher disease type I					148			13		0	0	1	0	0
CEP85	64793	broad.mit.edu	37	1	26597551	26597551	+	Nonsense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:26597551G>T	uc001bls.1	+	9	1827	c.1696G>T	c.(1696-1698)Gaa>Taa	p.E566*	CEP85_uc001blr.3_Nonsense_Mutation_p.E566*|CEP85_uc010ofa.1_Nonsense_Mutation_p.E515*|CEP85_uc001blt.1_5'UTR	NM_022778	NP_073615	Q6P2H3	CEP85_HUMAN	Homo sapiens centrosomal protein 85kDa (CEP85), mRNA.	566						centrosome|nucleolus|spindle pole				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(11)|skin(2)	25						AGAAGGTCCAGAAGTGGAAAT	0.512000														22			17		6.49762e-13	8.04122e-13	1	1	0
LIMS1	3987	broad.mit.edu	37	2	109276098	109276098	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:109276098C>T	uc002teg.3	+	1	163	c.34C>T	c.(34-36)Cgc>Tgc	p.R12C	LIMS1_uc002tel.3_Missense_Mutation_p.R24C|LIMS1_uc002teh.3_Missense_Mutation_p.R12C|LIMS1_uc002tei.3_Missense_Mutation_p.R16C|LIMS1_uc002tej.3_Missense_Mutation_p.R49C|LIMS1_uc002tek.4_Missense_Mutation_p.R74C	NM_004987	NP_004978	P48059	LIMS1_HUMAN	Homo sapiens LIM and senescent cell antigen-like domains 1 (LIMS1), transcript variant 2, mRNA.	12	LIM zinc-binding 1.				cell aging|cell junction assembly|cellular response to transforming growth factor beta stimulus|negative regulation of transcription, DNA-dependent	cytosol|focal adhesion|perinuclear region of cytoplasm	protein binding|zinc ion binding	p.E11*(1)|p.E11G(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	10						CACTTGCGAGCGCTGCAAGGG	0.562000														58			20		0	0	1	0	0
COG1	9382	broad.mit.edu	37	17	71197678	71197678	+	Missense_Mutation	SNP	G	A	A	rs141750466	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:71197678G>A	uc002jjg.3	+	6	1748	c.1712G>A	c.(1711-1713)cGg>cAg	p.R571Q	COG1_uc002jjf.1_Missense_Mutation_p.R571Q|COG1_uc002jjh.3_Missense_Mutation_p.R571Q	NM_018714	NP_061184	Q8WTW3	COG1_HUMAN	Homo sapiens component of oligomeric golgi complex 1 (COG1), mRNA.	571					Golgi organization|intra-Golgi vesicle-mediated transport|protein transport	Golgi membrane|Golgi transport complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18			LUSC - Lung squamous cell carcinoma(166;0.197)			GAGATGCTGCGGACTCAGTCC	0.567000														45			30		0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123846833	123846833	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:123846833C>T	uc001lfv.3	+	3	5178	c.4818C>T	c.(4816-4818)tgC>tgT	p.C1606C	TACC2_uc001lfw.3_Intron|TACC2_uc009xzx.3_Silent_p.C1606C|TACC2_uc010qtv.2_Silent_p.C1606C	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	1606						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CATCTGCCTGCGACAGTCCAC	0.592000														33			18		0	0	1	0	0
S100PBP	64766	broad.mit.edu	37	1	33292324	33292324	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:33292324T>C	uc001bvz.3	+	2	901	c.624T>C	c.(622-624)aaT>aaC	p.N208N	S100PBP_uc001bwa.1_Silent_p.N208N|S100PBP_uc001bwb.1_Silent_p.N208N|S100PBP_uc001bwc.3_Silent_p.N208N|S100PBP_uc001bwd.3_Non-coding_Transcript	NM_022753	NP_073590	Q96BU1	S1PBP_HUMAN	Homo sapiens S100P binding protein (S100PBP), transcript variant 1, mRNA.	208						nucleus	calcium-dependent protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|stomach(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				CTGCCTGGAATGGGCCCCAGC	0.443000														84			8		0	0	1	0	0
TSHR	7253	broad.mit.edu	37	14	81422079	81422079	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:81422079C>A	uc001xvd.1	+	0	211	c.55C>A	c.(55-57)Ctg>Atg	p.L19M	CEP128_uc001xva.1_Intron|TSHR_uc001xvb.1_Missense_Mutation_p.L19M|TSHR_uc001xvc.3_Missense_Mutation_p.L19M|TSHR_uc010tvs.2_Missense_Mutation_p.L19M	NM_000369	NP_000360	P16473	TSHR_HUMAN	Homo sapiens thyroid stimulating hormone receptor (TSHR), transcript variant 1, mRNA.	19					cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	GCCCAGGGACCTGGGCGGAAT	0.612000			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism							80			8		5.18039e-06	5.80246e-06	1	1	0
XAB2	56949	broad.mit.edu	37	19	7685535	7685535	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:7685535C>T	uc002mgx.3	-	14	2018	c.1992G>A	c.(1990-1992)gcG>gcA	p.A664A		NM_020196	NP_064581	Q9HCS7	SYF1_HUMAN	Homo sapiens XPA binding protein 2 (XAB2), mRNA.	664					transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						ACATCTCACGCGCGTGCTCGT	0.667000								Direct reversal of damage;Nucleotide excision repair (NER)						21			9		0	0	1	0	0
ADAMTSL5	339366	broad.mit.edu	37	19	1507280	1507280	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:1507280C>T	uc010xgq.1	-	9	1162	c.843G>A	c.(841-843)ttG>ttA	p.L281L	ADAMTSL5_uc010dsl.2_Silent_p.L40L|ADAMTSL5_uc002ltd.2_Silent_p.L271L	NM_213604	NP_998769	Q6ZMM2	ATL5_HUMAN	Homo sapiens ADAMTS-like 5 (ADAMTSL5), mRNA.	271						proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	10		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGGCTGCTTGCAATGTCTCCT	0.667000														45			29		0	0	1	0	0
TCHHL1	126637	broad.mit.edu	37	1	152058011	152058011	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:152058011G>A	uc001ezo.1	-	2	2212	c.2147C>T	c.(2146-2148)gCc>gTc	p.A716V		NM_001008536	NP_001008536	Q5QJ38	TCHL1_HUMAN	Homo sapiens trichohyalin-like 1 (TCHHL1), mRNA.	716							calcium ion binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			AGTATTCTGGGCCTCTGTTGC	0.443000														88			77		0	0	1	0	0
U2AF1	7307	broad.mit.edu	37	21	44513269	44513269	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:44513269G>A	uc002zdb.1	-	7	750	c.666C>T	c.(664-666)ggC>ggT	p.G222G	U2AF1_uc002zcy.1_Silent_p.G149G|U2AF1_uc002zcz.1_Silent_p.G149G|U2AF1_uc002zda.1_Silent_p.G222G|U2AF1_uc010gpi.1_3'UTR	NM_006758	NP_001020375	Q01081	U2AF1_HUMAN	Homo sapiens U2 small nuclear RNA auxiliary factor 1 (U2AF1), transcript variant a, mRNA.	222	Arg/Gly/Ser-rich (RS domain).|Poly-Gly.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	Cajal body|catalytic step 2 spliceosome|nuclear speck	RNA binding|nucleotide binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(111)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	126						GCTCCCGTccgccgccacctc	0.582000			Mis		"""CLL, MDS"""									15			14		0	0	1	0	0
RPTN	126638	broad.mit.edu	37	1	152127497	152127497	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:152127497G>A	uc001ezs.1	-	2	2143	c.2078C>T	c.(2077-2079)aCc>aTc	p.T693I		NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN	Homo sapiens repetin (RPTN), mRNA.	693	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						ACTCTGCCTGGTCTGGGCCTG	0.532000														112			57		0	0	1	0	0
PRKDC	5591	broad.mit.edu	37	8	48771461	48771461	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:48771461C>T	uc003xqi.3	-	47	6348	c.6291G>A	c.(6289-6291)acG>acA	p.T2097T	PRKDC_uc003xqj.3_Silent_p.T2097T	NM_006904	NP_008835	P78527	PRKDC_HUMAN	Homo sapiens protein kinase, DNA-activated, catalytic polypeptide (PRKDC), transcript variant 1, mRNA.	2098					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				TGACCAGGGCCGTCAGGGGCG	0.567000								Non-homologous end-joining						35			35		0	0	1	0	0
CDC14B	8555	broad.mit.edu	37	9	99285544	99285544	+	Splice_Site	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:99285544G>A	uc004awj.3	-	11	1697	c.1245_splice	c.e11+1	p.P415_splice	CDC14B_uc004awk.3_Splice_Site_p.P415_splice|CDC14B_uc004awl.3_Splice_Site|CDC14B_uc004awi.3_Splice_Site_p.P378_splice	NM_033331	NP_201588	O60729	CC14B_HUMAN	Homo sapiens CDC14 cell division cycle 14 homolog B (S. cerevisiae) (CDC14B), transcript variant 2, mRNA.	415					DNA repair|G2/M transition DNA damage checkpoint|activation of anaphase-promoting complex activity	nucleolus|nucleoplasm	protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	15		Acute lymphoblastic leukemia(62;0.0559)				CTTGATTACCGGTTCGGGTTC	0.443000														71			10		0	0	1	0	0
DTX3L	151636	broad.mit.edu	37	3	122289445	122289445	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:122289445C>T	uc003efk.3	+	3	2168	c.2079C>T	c.(2077-2079)cgC>cgT	p.R693R	DTX3L_uc010hrj.3_Silent_p.R181R|DTX3L_uc021xdb.1_3'UTR	NM_138287	NP_612144	Q8TDB6	DTX3L_HUMAN	Homo sapiens deltex 3-like (Drosophila) (DTX3L), mRNA.	693					histone monoubiquitination|response to DNA damage stimulus	cytoplasm|nucleus	histone binding|ubiquitin-protein ligase activity|zinc ion binding	p.R693S(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0459)		GGTACTCTCGCGTATTAGGAG	0.428000														67			6		0	0	1	0	0
FAM48B2	170067	broad.mit.edu	37	X	24329780	24329780	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:24329780G>A	uc011mjw.2	-	0	1653	c.1653C>T	c.(1651-1653)gcC>gcT	p.A551A		NM_001136233	NP_001129705	P0C7V6	F48B2_HUMAN	Homo sapiens family with sequence similarity 48, member B2 (FAM48B2), mRNA.	551										breast(1)|endometrium(4)|large_intestine(1)|liver(1)|lung(12)|ovary(2)|prostate(1)|skin(1)	23						TGGGGCGCCCGGCAGCTGGAC	0.652000														10			7		0	0	1	0	0
ASPM	259266	broad.mit.edu	37	1	197074288	197074288	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:197074288G>A	uc001gtu.3	-	17	4350	c.4093C>T	c.(4093-4095)Caa>Taa	p.Q1365*	ASPM_uc001gtv.3_Intron|ASPM_uc001gtw.4_Intron	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	Homo sapiens asp (abnormal spindle) homolog, microcephaly associated (Drosophila) (ASPM), transcript variant 1, mRNA.	1365	IQ 1.				mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						AGAAATCTTTGTCTAGTGGAA	0.303000														40			39		0	0	1	0	0
SMS	6611	broad.mit.edu	37	X	21990049	21990049	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:21990049G>A	uc004dag.3	+	2	433	c.205G>A	c.(205-207)Gtg>Atg	p.V69M	SMS_uc011mjq.2_Intron	NM_004595	NP_004586	P52788	SPSY_HUMAN	Homo sapiens spermine synthase (SMS), mRNA.	69					methionine metabolic process|spermine biosynthetic process	cytosol	spermidine synthase activity|spermine synthase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(2)	14					Spermine(DB00127)	ACATGGATTGGTGTTGCTGGA	0.368000														36			31		0	0	1	0	0
PLCE1	51196	broad.mit.edu	37	10	96068407	96068407	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:96068407G>A	uc001kjk.3	+	26	6588	c.5954G>A	c.(5953-5955)aGc>aAc	p.S1985N	PLCE1_uc010qnx.2_Missense_Mutation_p.S1969N|PLCE1_uc001kjm.3_Missense_Mutation_p.S1677N|PLCE1_uc001kjp.3_Missense_Mutation_p.S343N	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	Homo sapiens phospholipase C, epsilon 1 (PLCE1), transcript variant 1, mRNA.	1985					Ras protein signal transduction|activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of cell growth|regulation of smooth muscle contraction	Golgi membrane|cytosol|membrane fraction|plasma membrane	Ras GTPase binding|calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				TTCATTAACAGCAGAAGGATG	0.393000														130			6		0	0	1	0	0
PODXL2	50512	broad.mit.edu	37	3	127390345	127390345	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:127390345C>T	uc003ejq.2	+	6	1518	c.1494C>T	c.(1492-1494)taC>taT	p.Y498Y	ABTB1_uc003ejr.3_5'Flank|ABTB1_uc003ejs.3_5'Flank|ABTB1_uc003ejt.3_5'Flank|ABTB1_uc003eju.3_5'Flank	NM_015720	NP_056535	Q9NZ53	PDXL2_HUMAN	Homo sapiens podocalyxin-like 2 (PODXL2), mRNA.	498					leukocyte tethering or rolling	integral to plasma membrane	glycosaminoglycan binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	26						GCAGCGACTACGGCACGCTCT	0.627000														43			27		0	0	1	0	0
ZNF768	79724	broad.mit.edu	37	16	30536215	30536215	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:30536215G>T	uc002dyk.4	-	1	1422	c.1246C>A	c.(1246-1248)Ctt>Att	p.L416I	ZNF768_uc010vex.2_Missense_Mutation_p.L385I|ZNF768_uc010vew.2_Missense_Mutation_p.L385I	NM_024671	NP_078947	Q9H5H4	ZN768_HUMAN	Homo sapiens zinc finger protein 768 (ZNF768), mRNA.	416					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						TGGGGGATAAGGGCCGACCGC	0.667000														36			5		0.184627	0.186034	1	1	0
IKBKB	3551	broad.mit.edu	37	8	42163935	42163935	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:42163935G>A	uc003xow.2	+	6	738	c.552G>A	c.(550-552)ggG>ggA	p.G184G	IKBKB_uc003xov.3_Silent_p.G184G|IKBKB_uc010lxh.2_Silent_p.G79G|IKBKB_uc011lco.2_Non-coding_Transcript|IKBKB_uc003xox.2_5'UTR|IKBKB_uc010lxj.2_Intron|IKBKB_uc011lcp.2_Non-coding_Transcript|IKBKB_uc011lcq.2_Silent_p.G182G|IKBKB_uc010lxi.2_Non-coding_Transcript|IKBKB_uc011lcr.2_Silent_p.G125G	NM_001556	NP_001547	O14920	IKKB_HUMAN	Homo sapiens inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta (IKBKB), transcript variant 1, mRNA.	184	Protein kinase.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T cell receptor signaling pathway|Toll signaling pathway|anti-apoptosis|innate immune response|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft	ATP binding|IkappaB kinase activity|identical protein binding			breast(4)|lung(1)|ovary(2)|skin(1)	8	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Arsenic trioxide(DB01169)|Auranofin(DB00995)	CATTCGTGGGGACCCTGCAGT	0.512000														21			11		0	0	1	0	0
MRPL11	65003	broad.mit.edu	37	11	66204828	66204828	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:66204828C>A	uc001ohz.4	-	2	391	c.306G>T	c.(304-306)cgG>cgT	p.R102R	MRPL11_uc001ohy.4_Silent_p.R102R|MRPL11_uc001oia.4_Silent_p.R76R	NM_016050	NP_057134	Q9Y3B7	RM11_HUMAN	Homo sapiens mitochondrial ribosomal protein L11 (MRPL11), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	102					translation		structural constituent of ribosome			endometrium(3)|lung(2)|ovary(1)|prostate(1)	7						CACCTGTTTGCCGGGCCCCCT	0.507000														39			8		0.0381472	0.0388409	1	1	0
EPHA4	2043	broad.mit.edu	37	2	222347170	222347170	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:222347170G>A	uc002vmq.3	-	4	1262	c.1220C>T	c.(1219-1221)aCc>aTc	p.T407I	EPHA4_uc002vmr.2_Missense_Mutation_p.T407I|EPHA4_uc010zlm.1_Missense_Mutation_p.T348I	NM_004438	NP_004429	P54764	EPHA4_HUMAN	Homo sapiens EPH receptor A4 (EPHA4), mRNA.	407	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		GGTGTAATTGGTATGAGCTAG	0.507000														196			108		0	0	1	0	0
KIAA1147	57189	broad.mit.edu	37	7	141385376	141385376	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:141385376G>A	uc003vwk.3	-	2	429	c.429C>T	c.(427-429)agC>agT	p.S143S		NM_001080392	NP_001073861	A4D1U4	LCHN_HUMAN	Homo sapiens KIAA1147 (KIAA1147), mRNA.	143										breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|ovary(1)|skin(1)	12	Melanoma(164;0.0171)					GTTCCAGCTCGCTCTCCACGG	0.557000														34			42		0	0	1	0	0
ATP2B2	491	broad.mit.edu	37	3	10452379	10452379	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:10452379G>A	uc003bvt.3	-	2	759	c.320C>T	c.(319-321)aCg>aTg	p.T107M	ATP2B2_uc003bvv.3_Missense_Mutation_p.T107M|ATP2B2_uc003bvw.3_Missense_Mutation_p.T107M|ATP2B2_uc010hdp.2_Missense_Mutation_p.T107M|ATP2B2_uc010hdo.3_5'UTR	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 2 (ATP2B2), transcript variant 1, mRNA.	107					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|PDZ domain binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						GATGATGAGCGTCACGTCCTG	0.557000														153			101		0	0	1	0	0
PRPF4	9128	broad.mit.edu	37	9	116050475	116050475	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:116050475T>C	uc004bgx.3	+	9	1066	c.956T>C	c.(955-957)aTt>aCt	p.I319T	PRPF4_uc004bgy.3_Missense_Mutation_p.I318T	NM_004697	NP_004688	O43172	PRP4_HUMAN	Homo sapiens PRP4 pre-mRNA processing factor 4 homolog (yeast) (PRPF4), transcript variant 1, mRNA.	319						Cajal body|U4/U6 snRNP|nuclear speck|spliceosomal complex	protein binding			NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	23						GTGGCAGATATTGAAGGCCAT	0.433000														24			11		0	0	1	0	0
C1orf101	257044	broad.mit.edu	37	1	244756882	244756882	+	Splice_Site	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:244756882T>C	uc001iam.3	+	17	2362	c.2303_splice	c.e17+2	p.L768_splice	C1orf101_uc001iak.1_Splice_Site_p.L322_splice|C1orf101_uc001ial.3_Splice_Site_p.L768_splice|C1orf101_uc010pym.2_Splice_Site_p.L617_splice|C1orf101_uc010pyn.2_Splice_Site_p.L701_splice	NM_001130957	NP_001124429	Q5SY80	CA101_HUMAN	Homo sapiens chromosome 1 open reading frame 101 (C1orf101), transcript variant 1, mRNA.	768						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	36	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)			GGTTCAACTGTAAGTATATTC	0.348000														30			33		0	0	1	0	0
SREBF2	6721	broad.mit.edu	37	22	42273399	42273399	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:42273399G>A	uc003bbi.3	+	7	1722	c.1553G>A	c.(1552-1554)gGc>gAc	p.G518D	bK250D10.C22.8_uc003bba.1_Intron|SREBF2_uc003bbj.3_Non-coding_Transcript	NM_004599	NP_004590	Q12772	SRBP2_HUMAN	Homo sapiens sterol regulatory element binding transcription factor 2 (SREBF2), mRNA.	518					cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|SREBP-SCAP-Insig complex|nucleus	protein C-terminus binding			NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						TCAGGCTCTGGCCGCAGTGTC	0.612000														15			19		0	0	1	0	0
ZNF791	163049	broad.mit.edu	37	19	12738655	12738655	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:12738655C>A	uc002mua.2	+	3	474	c.312C>A	c.(310-312)atC>atA	p.I104I	ZNF791_uc010xml.1_Silent_p.I72I|ZNF791_uc010dyu.1_5'UTR|ZNF791_uc010xmm.1_5'UTR	NM_153358	NP_699189	Q3KP31	ZN791_HUMAN	Homo sapiens zinc finger protein 791 (ZNF791), mRNA.	104					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						AGTGTACTATCTGTGGAAAAG	0.433000														111			16		0.000566183	0.000605641	1	1	0
KIAA0368	23392	broad.mit.edu	37	9	114190321	114190321	+	Splice_Site	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:114190321C>T	uc004bfe.1	-	11	1584	c.1584_splice	c.e11+1	p.Q528_splice	KIAA0368_uc010muc.1_Splice_Site_p.Q350_splice	NM_001080398	NP_001073867			Homo sapiens KIAA0368 (KIAA0368), mRNA.											NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						AAACAAATTACCTGAATGTTG	0.408000														13			15		0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152782732	152782732	+	Splice_Site	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:152782732C>A	uc021zhb.1	-	19	2617	c.2394_splice	c.e19+1	p.K798_splice	SYNE1_uc003qot.4_Splice_Site_p.K805_splice|SYNE1_uc003qou.4_Splice_Site_p.K798_splice|SYNE1_uc010kjb.1_Splice_Site_p.K781_splice|SYNE1_uc003qow.3_Splice_Site_p.K93_splice|SYNE1_uc003qox.1_Splice_Site_p.K314_splice|SYNE1_uc003qoz.2_Splice_Site_p.K230_splice|SYNE1_uc003qoy.2_Splice_Site_p.K365_splice	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	798					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	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)		ATTTTCGCACCTTGGTTAGCT	0.433000										HNSCC(10;0.0054)				96			12		0.00010058	0.000109296	1	1	0
KIF1A	547	broad.mit.edu	37	2	241722503	241722503	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:241722503C>T	uc010fzk.3	-	8	1069	c.822G>A	c.(820-822)tcG>tcA	p.S274S	KIF1A_uc002vzy.3_Silent_p.S274S|KIF1A_uc002vzz.2_Silent_p.S274S	NM_001244008	NP_001230937	Q12756	KIF1A_HUMAN	Homo sapiens kinesin family member 1A (KIF1A), transcript variant 1, mRNA.	274	Kinesin-motor.				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		GGGTGGTCAGCGACTTGTTGA	0.652000														38			22		0	0	1	0	0
KIAA1324	57535	broad.mit.edu	37	1	109740233	109740233	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:109740233C>A	uc021orb.1	+	15	2480	c.2259C>A	c.(2257-2259)gcC>gcA	p.A753A	KIAA1324_uc009wex.2_Silent_p.A703A|KIAA1324_uc010ovg.2_Silent_p.A651A|KIAA1324_uc009wey.3_Silent_p.A666A|KIAA1324_uc001dwr.3_Silent_p.A403A|KIAA1324_uc001dws.1_Non-coding_Transcript|KIAA1324_uc009wez.1_Non-coding_Transcript	NM_020775	NP_065826	Q6UXG2	K1324_HUMAN	Homo sapiens KIAA1324 (KIAA1324), mRNA.	753					macroautophagy|positive regulation of vacuole organization|regulation of apoptosis	integral to plasma membrane				NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		GCTACAAGGCCGGGGTTTCCT	0.552000														34			10		4.68919e-08	5.46558e-08	1	1	0
GHR	2690	broad.mit.edu	37	5	42695035	42695035	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:42695035A>G	uc021xxv.1	+	4	441	c.304A>G	c.(304-306)Act>Gct	p.T102A	GHR_uc003jmt.3_Missense_Mutation_p.T95A|GHR_uc003jmu.3_Missense_Mutation_p.T95A|GHR_uc003jmv.2_Missense_Mutation_p.T95A|GHR_uc021xxw.1_Missense_Mutation_p.T95A|GHR_uc021xxx.1_Missense_Mutation_p.T95A|GHR_uc021xxy.1_Missense_Mutation_p.T95A|GHR_uc021xxz.1_Missense_Mutation_p.T95A|GHR_uc021xya.1_Missense_Mutation_p.T95A|GHR_uc021xyb.1_Missense_Mutation_p.T95A|GHR_uc021xyc.1_Missense_Mutation_p.T95A|GHR_uc011cpq.2_5'UTR|GHR_uc021xyd.1_Missense_Mutation_p.T73A	NM_001242399	NP_001229328	P10912	GHR_HUMAN	Homo sapiens growth hormone receptor (GHR), transcript variant 2, mRNA.	95					2-oxoglutarate metabolic process|JAK-STAT cascade|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	tcaagaatggactcaagaatg	0.353000														17			9		0	0	1	0	0
MPND	84954	broad.mit.edu	37	19	4352926	4352926	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:4352926G>A	uc002mae.3	+	3	631	c.564G>A	c.(562-564)ttG>ttA	p.L188L	MPND_uc010dtx.2_Non-coding_Transcript|MPND_uc002mag.3_Silent_p.L188L	NM_032868	NP_116257	Q8N594	MPND_HUMAN	Homo sapiens MPN domain containing (MPND), transcript variant 1, mRNA.	188							peptidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)	8				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		aggaggagttgctgatggaag	0.652000														24			8		0	0	1	0	0
QDPR	5860	broad.mit.edu	37	4	17492298	17492298	+	Nonsense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:17492298C>A	uc003gpd.3	-	5	796	c.616G>T	c.(616-618)Gaa>Taa	p.E206*	QDPR_uc021xmo.1_Non-coding_Transcript|QDPR_uc003gpe.3_Nonsense_Mutation_p.E175*	NM_000320	NP_000311	P09417	DHPR_HUMAN	Homo sapiens quinoid dihydropteridine reductase (QDPR), mRNA.	206					L-phenylalanine catabolic process|dihydrobiopterin metabolic process|tetrahydrobiopterin biosynthetic process	cytosol	6,7-dihydropteridine reductase activity|binding|electron carrier activity			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	13					NADH(DB00157)	ACTAGGAATTCTAAGGGTGTC	0.507000														17			7		0.0381472	0.0388409	1	1	0
SBF1	6305	broad.mit.edu	37	22	50906115	50906115	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:50906115G>A	uc003blh.3	-	3	479	c.284C>T	c.(283-285)aCg>aTg	p.T95M	SBF1_uc011arx.2_5'Flank|SBF1_uc003bli.2_Missense_Mutation_p.T96M	NM_002972	NP_002963	O95248	MTMR5_HUMAN	Homo sapiens SET binding factor 1 (SBF1), mRNA.	95					protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		CACGCGCGTCGTTTCCTGCTG	0.652000														13			13		0	0	1	0	0
SHBG	6462	broad.mit.edu	37	17	7536191	7536191	+	Missense_Mutation	SNP	C	T	T	rs142032286		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7536191C>T	uc002gie.2	+	6	1012	c.974C>T	c.(973-975)gCc>gTc	p.A325V	SHBG_uc010cmu.2_Intron|SHBG_uc010cmo.2_Missense_Mutation_p.A213V|SHBG_uc010cmp.2_Intron|SHBG_uc010cmq.2_Intron|SHBG_uc010cmr.2_Intron|SHBG_uc010cms.2_Intron|SHBG_uc010cmt.2_Missense_Mutation_p.A267V|SHBG_uc010cmz.2_Intron|SHBG_uc010cmv.2_Intron|SHBG_uc010cmw.2_Intron|SHBG_uc010cmx.2_Intron|SHBG_uc010cmy.2_Missense_Mutation_p.A267V|SHBG_uc002gid.3_Intron|SHBG_uc010cnd.2_Intron|SHBG_uc010cna.2_Intron|SHBG_uc010vue.1_Missense_Mutation_p.A307V|SHBG_uc010vuf.1_Intron|SHBG_uc010cnb.2_Intron|SHBG_uc010cnc.2_Intron	NM_001040	NP_001031	P04278	SHBG_HUMAN	Homo sapiens sex hormone-binding globulin (SHBG), transcript variant 1, mRNA.	325	Laminin G-like 2.				hormone transport	extracellular region	androgen binding|protein homodimerization activity	p.0?(1)|p.?(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1)	10		all_cancers(10;0.0867)		READ - Rectum adenocarcinoma(115;0.168)	Danazol(DB01406)|Dromostanolone(DB00858)|Estradiol(DB00783)|Estrone(DB00655)|Fluoxymesterone(DB01185)|Hydrocortisone(DB00741)|Mitotane(DB00648)|Norethindrone(DB00717)|Testosterone(DB00624)	AAGATGAAGGCCCTTGCCCTG	0.602000											OREG0024140	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		22			15		0	0	1	0	0
PLXND1	23129	broad.mit.edu	37	3	129324846	129324846	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:129324846A>G	uc003emx.2	-	0	737	c.637T>C	c.(637-639)Tac>Cac	p.Y213H		NM_015103	NP_055918	Q9Y4D7	PLXD1_HUMAN	Homo sapiens plexin D1 (PLXND1), mRNA.	213	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane			PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						TAACCGGTGTACGTGGCGCCC	0.716000														5			2		0	0	1	0	0
FAM176A	84141	broad.mit.edu	37	2	75720698	75720698	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:75720698G>A	uc002sni.2	-	3	601	c.123C>T	c.(121-123)ggC>ggT	p.G41G	FAM176A_uc002snj.1_Silent_p.G28G|FAM176A_uc002snk.1_Silent_p.G41G	NM_001135032	NP_115557	Q9H8M9	F176A_HUMAN	Homo sapiens family with sequence similarity 176, member A (FAM176A), transcript variant 1, mRNA.	41	Necessary for the localization and biological activity.				apoptosis|autophagy	endoplasmic reticulum membrane|integral to membrane|lysosomal membrane|plasma membrane				endometrium(1)|large_intestine(4)|lung(1)|skin(2)	8						CGATGCACACGCCAGAAACAA	0.532000														13			11		0	0	1	0	0
MPP6	51678	broad.mit.edu	37	7	24727059	24727059	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:24727059C>T	uc003swx.3	+	12	1748	c.1449C>T	c.(1447-1449)gaC>gaT	p.D483D	MPP6_uc003swy.3_Silent_p.D483D	NM_016447	NP_057531	Q9NZW5	MPP6_HUMAN	Homo sapiens membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6) (MPP6), mRNA.	483	Guanylate kinase-like.				protein complex assembly		protein binding	p.T482T(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						TTCAACAGGACTCTGACTTGA	0.318000														53			80		0	0	1	0	0
P2RY2	5029	broad.mit.edu	37	11	72945750	72945750	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:72945750C>A	uc021qna.1	+	0	546	c.546C>A	c.(544-546)acC>acA	p.T182T	P2RY2_uc001otk.3_Silent_p.T182T|P2RY2_uc001otj.3_Silent_p.T182T|P2RY2_uc001otl.3_Silent_p.T182T	NM_176072	NP_788086	P41231	P2RY2_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 2 (P2RY2), transcript variant 1, mRNA.	182					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25					Suramin(DB04786)	GCCGCGTAACCTGCCACGACA	0.692000														15			14		1.49906e-05	1.66078e-05	1	1	0
RHBG	57127	broad.mit.edu	37	1	156347153	156347153	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:156347153G>T	uc010pho.2	+	1	287	c.249G>T	c.(247-249)caG>caT	p.Q83H	RHBG_uc010phm.1_Intron|RHBG_uc010phn.1_Non-coding_Transcript|RHBG_uc001fos.3_Missense_Mutation_p.Q14H|RHBG_uc009wrz.3_Missense_Mutation_p.Q14H|RHBG_uc001for.3_Missense_Mutation_p.Q53H	NM_020407	NP_065140	Q9H310	RHBG_HUMAN	Homo sapiens Rh family, B glycoprotein (gene/pseudogene) (RHBG), transcript variant 1, mRNA.	83					transepithelial ammonium transport	anchored to plasma membrane|basolateral plasma membrane|cytoplasmic vesicle membrane|integral to plasma membrane|spectrin-associated cytoskeleton	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					TCTTCCTGCAGCGTTACGGCT	0.642000														122			58		1.80625e-27	2.37377e-27	1	1	0
PTK7	5754	broad.mit.edu	37	6	43106885	43106885	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:43106885C>T	uc011dve.1	+	8	1440	c.1398C>T	c.(1396-1398)ttC>ttT	p.F466F	PTK7_uc003oub.1_Silent_p.F458F|PTK7_uc003ouc.1_Silent_p.F458F|PTK7_uc003oud.1_Silent_p.F458F|PTK7_uc003oue.1_Intron|PTK7_uc003ouf.1_Non-coding_Transcript|PTK7_uc003oug.1_Non-coding_Transcript|PTK7_uc010jyj.1_Silent_p.F134F	NM_002821	NP_002812	Q13308	PTK7_HUMAN	Homo sapiens PTK7 protein tyrosine kinase 7 (PTK7), transcript variant PTK7-1, mRNA.	458	Ig-like C2-type 5.				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			ACTCACGGTTCGAGGTCTTCA	0.592000														10			8		0	0	1	0	0
MARVELD3	91862	broad.mit.edu	37	16	71674836	71674836	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:71674836G>A	uc002fau.3	+	2	1202	c.1139G>A	c.(1138-1140)cGt>cAt	p.R380H	PHLPP2_uc002fav.3_Non-coding_Transcript|MARVELD3_uc010cge.3_3'UTR	NM_001017967	NP_001017967	Q96A59	MALD3_HUMAN	Homo sapiens MARVEL domain containing 3 (MARVELD3), transcript variant 1, mRNA.	383	MARVEL.					integral to membrane				NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2)	17		Ovarian(137;0.125)				CTGGCCCTGCGTAGCTACCGA	0.572000														30			11		0	0	1	0	0
METTL2B	55798	broad.mit.edu	37	7	128141876	128141876	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:128141876G>A	uc003vnf.3	+	8	1080	c.1043G>A	c.(1042-1044)cGc>cAc	p.R348H	METTL2B_uc003vng.3_Missense_Mutation_p.R283H|METTL2B_uc011kop.2_Missense_Mutation_p.R212H	NM_018396	NP_060866	Q6P1Q9	MTL2B_HUMAN	Homo sapiens methyltransferase like 2B (METTL2B), mRNA.	348							methyltransferase activity			breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						CTGGTGGACCGCCGACTGCAG	0.493000														59			92		0	0	1	0	0
TCL6	27004	broad.mit.edu	37	14	96128922	96128922	+	RNA	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:96128922G>T	uc001yep.1	+	4		c.1051G>T			TCL6_uc021sbf.1_Intron|TCL6_uc021sbg.1_Non-coding_Transcript|TCL6_uc021sbh.1_5'Flank|TCL6_uc001yet.1_5'Flank|TCL6_uc001yeu.2_5'Flank|TCL6_uc001yev.2_5'Flank|TCL1B_uc021sbi.1_5'Flank|TCL1B_uc001yew.3_5'Flank|TCL1B_uc001yex.3_5'Flank|TCL1B_uc010avj.3_5'Flank					Homo sapiens T-cell leukemia/lymphoma 6 (non-protein coding) (TCL6), non-coding RNA.											large_intestine(1)|lung(7)	8		all_cancers(154;0.103)		Epithelial(152;0.0655)|all cancers(159;0.149)|BRCA - Breast invasive adenocarcinoma(234;0.206)|COAD - Colon adenocarcinoma(157;0.207)		CAAAGAGGAAGAGGGAGAATA	0.388000			T	TRA@	T-ALL									191			15		3.41278e-10	4.10877e-10	1	1	0
EPHA4	2043	broad.mit.edu	37	2	222365844	222365844	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:222365844G>A	uc002vmq.3	-	3	914	c.872C>T	c.(871-873)gCc>gTc	p.A291V	EPHA4_uc002vmr.2_Missense_Mutation_p.A291V|EPHA4_uc010zlm.1_Missense_Mutation_p.A232V	NM_004438	NP_004429	P54764	EPHA4_HUMAN	Homo sapiens EPH receptor A4 (EPHA4), mRNA.	291	Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		TGGGCACTTGGCACAGGTGGC	0.507000														46			20		0	0	1	0	0
ABHD1	84696	broad.mit.edu	37	2	27351333	27351333	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:27351333C>T	uc002rit.3	+	1	299	c.139C>T	c.(139-141)Cag>Tag	p.Q47*	ABHD1_uc002riu.3_Non-coding_Transcript|ABHD1_uc002riv.3_Intron	NM_032604	NP_115993	Q96SE0	ABHD1_HUMAN	Homo sapiens abhydrolase domain containing 1 (ABHD1), mRNA.	47						integral to membrane	carboxylesterase activity			endometrium(1)|kidney(1)|lung(3)	5	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGCTGGGCCGCAGTTTCTGGC	0.567000														72			7		0	0	1	0	0
C3orf23	285343	broad.mit.edu	37	3	44442806	44442806	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:44442806G>T	uc003cnd.4	+	9	1657	c.1230G>T	c.(1228-1230)gaG>gaT	p.E410D	C3orf23_uc010him.3_Missense_Mutation_p.E410D|C3orf23_uc003cne.4_Missense_Mutation_p.E266D	NM_173826	NP_776187	Q8N3R3	CC023_HUMAN	Homo sapiens chromosome 3 open reading frame 23 (C3orf23), transcript variant 1, mRNA.	410						mitochondrion				breast(2)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16				KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585)		AGGCAAGAGAGAACATGAAAA	0.403000														46			35		2.47316e-13	3.07597e-13	1	1	0
SLC39A9	55334	broad.mit.edu	37	14	69908877	69908877	+	Silent	SNP	C	T	T	rs150425244		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:69908877C>T	uc001xle.3	+	2	999	c.297C>T	c.(295-297)caC>caT	p.H99H	SLC39A9_uc021rvg.1_5'UTR|SLC39A9_uc021rvh.1_5'UTR|SLC39A9_uc001xlf.4_Silent_p.H99H|SLC39A9_uc010aqx.3_Silent_p.H99H|SLC39A9_uc001xlg.4_Non-coding_Transcript	NM_018375	NP_060845	Q9NUM3	S39A9_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 9 (SLC39A9), transcript variant 1, mRNA.	99					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|skin(1)|stomach(1)	14				all cancers(60;0.00299)|BRCA - Breast invasive adenocarcinoma(234;0.0145)|OV - Ovarian serous cystadenocarcinoma(108;0.0373)		AGCACAGCCACGACCACACAC	0.463000														73			56		0	0	1	0	0
GOLGA2	2801	broad.mit.edu	37	9	131022831	131022831	+	Silent	SNP	G	A	A	rs144463156		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:131022831G>A	uc011maw.2	-	16	1603	c.1590C>T	c.(1588-1590)aaC>aaT	p.N530N	GOLGA2_uc010mxw.3_Intron|GOLGA2_uc004buh.3_Silent_p.N3N|JA429730_uc022bod.1_5'Flank|Metazoa_SRP_uc022bof.1_5'Flank|DQ594309_uc004bun.2_5'Flank	NM_004486	NP_004477	Q08379	GOGA2_HUMAN	Homo sapiens golgin A2 (GOLGA2), mRNA.	530						Golgi cisterna membrane	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						TAGTGCGGTCGTTCTGCATGG	0.667000														99			68		0	0	1	0	0
FOXS1	2307	broad.mit.edu	37	20	30433195	30433195	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:30433195G>A	uc002wwt.1	-	0	226	c.151C>T	c.(151-153)Cga>Tga	p.R51*		NM_004118	NP_004109	O43638	FOXS1_HUMAN	Homo sapiens forkhead box S1 (FOXS1), mRNA.	51					Notch signaling pathway|anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|insulin receptor signaling pathway|lymphangiogenesis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|neural crest cell fate commitment|neuromuscular process controlling balance|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of multicellular organism growth|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|somitogenesis|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	DNA bending activity|chromatin DNA binding|double-stranded DNA binding|promoter binding|sequence-specific DNA 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			kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	9						AAGGCGAATCGGCCCATGATG	0.617000														35			15		0	0	1	0	0
PPARGC1B	133522	broad.mit.edu	37	5	149212524	149212524	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:149212524C>A	uc003lrc.3	+	4	979	c.888C>A	c.(886-888)acC>acA	p.T296T	PPARGC1B_uc003lrb.2_Silent_p.T296T|PPARGC1B_uc003lrd.3_Silent_p.T257T|PPARGC1B_uc021yfr.1_Silent_p.T232T|PPARGC1B_uc003lre.1_Silent_p.T275T|PPARGC1B_uc003lrf.3_Silent_p.T275T	NM_133263	NP_573570	Q86YN6	PRGC2_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator 1 beta (PPARGC1B), transcript variant 1, mRNA.	296					estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|RNA binding|RNA polymerase II transcription cofactor activity|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			ACATGCACACCTACTGCCTCC	0.667000														40			21		1.96895e-08	2.30809e-08	1	1	0
FPR3	2359	broad.mit.edu	37	19	52327770	52327770	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:52327770T>C	uc002pxt.1	+	1	953	c.769T>C	c.(769-771)Tat>Cat	p.Y257H	FPR3_uc021uyq.1_Missense_Mutation_p.Y257H	NM_002030	NP_002021	P25089	FPR3_HUMAN	Homo sapiens formyl peptide receptor 3 (FPR3), mRNA.	257					cellular component movement|chemotaxis	integral to membrane|plasma membrane	N-formyl peptide receptor activity			NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)	35						TTGGTTCCCTTATGAACTAAT	0.423000														60			4		0	0	1	0	0
TSHR	7253	broad.mit.edu	37	14	81422108	81422108	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:81422108C>A	uc001xvd.1	+	0	240	c.84C>A	c.(82-84)ccC>ccA	p.P28P	CEP128_uc001xva.1_Intron|TSHR_uc001xvb.1_Silent_p.P28P|TSHR_uc001xvc.3_Silent_p.P28P|TSHR_uc010tvs.2_Silent_p.P28P	NM_000369	NP_000360	P16473	TSHR_HUMAN	Homo sapiens thyroid stimulating hormone receptor (TSHR), transcript variant 1, mRNA.	28					cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	CGTCTCCACCCTGCGAGTGCC	0.622000			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism							67			47		3.61183e-13	4.48699e-13	1	1	0
UBR4	23352	broad.mit.edu	37	1	19493516	19493516	+	Splice_Site	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:19493516C>A	uc001bbi.3	-	29	4113	c.4109_splice	c.e29+1	p.S1370_splice	UBR4_uc001bbm.1_Splice_Site_p.S581_splice	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 4 (UBR4), mRNA.	1370					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TCAGGCTCACCTGTTAGGATC	0.443000														61			10		0.00621372	0.00645399	1	1	0
RIMS1	22999	broad.mit.edu	37	6	73110297	73110297	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:73110297G>A	uc003pga.3	+	33	5037	c.4960G>A	c.(4960-4962)Gga>Aga	p.G1654R	RIMS1_uc011dyb.2_Missense_Mutation_p.G1051R|RIMS1_uc003pgc.3_Missense_Mutation_p.G1069R|RIMS1_uc010kaq.3_Missense_Mutation_p.G974R|RIMS1_uc011dyc.2_Missense_Mutation_p.G779R|RIMS1_uc010kar.3_Missense_Mutation_p.G722R|RIMS1_uc011dyd.2_Missense_Mutation_p.G788R|RIMS1_uc003pge.3_Missense_Mutation_p.G694R|RIMS1_uc003pgf.3_Missense_Mutation_p.G654R|RIMS1_uc003pgi.3_Missense_Mutation_p.G470R|RIMS1_uc003pgg.3_Missense_Mutation_p.G550R|RIMS1_uc003pgh.3_Missense_Mutation_p.G521R|RIMS1_uc003pgd.3_Missense_Mutation_p.G720R|RIMS1_uc011dye.2_Missense_Mutation_p.G460R|RIMS1_uc011dyf.2_Missense_Mutation_p.G278R|RIMS1_uc011dyg.2_Missense_Mutation_p.G181R	NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 1 (RIMS1), transcript variant 1, mRNA.	1654					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	Rab GTPase binding|metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				CATGGTGATCGGATGGTACAA	0.542000														34			31		0	0	1	0	0
CHURC1-FNTB	100529261	broad.mit.edu	37	14	65381186	65381186	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:65381186G>A	uc010tsl.2	+	0	108	c.54G>A	c.(52-54)tgG>tgA	p.W18*	CHURC1-FNTB_uc010tsk.2_Nonsense_Mutation_p.W18*|CHURC1-FNTB_uc010tsj.2_Nonsense_Mutation_p.W18*|CHURC1-FNTB_uc010tsm.2_5'UTR|CHURC1-FNTB_uc021rup.1_Nonsense_Mutation_p.W18*|CHURC1-FNTB_uc001xhv.2_5'UTR|CHURC1-FNTB_uc001xhw.2_Nonsense_Mutation_p.W18*	NM_001202559	NP_001189488	B4DL54	B4DL54_HUMAN	Homo sapiens CHURC1-FNTB readthrough (CHURC1-FNTB), transcript variant 1, mRNA.	0					multicellular organismal development|positive regulation of transcription, DNA-dependent		transferase activity|zinc ion binding										GGAAGCGTTGGAGGACATTCC	0.622000														65			31		0	0	1	0	0
KRT33A	3883	broad.mit.edu	37	17	39503321	39503321	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:39503321C>T	uc002hwk.1	-	3	779	c.742G>A	c.(742-744)Gcc>Acc	p.A248T		NM_004138	NP_004129	O76009	KT33A_HUMAN	Homo sapiens keratin 33A (KRT33A), mRNA.	248	Coil 2.|Rod.					intermediate filament	protein binding|structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	21		Breast(137;0.000496)				ACCTGCGTGGCGAACCATTGC	0.622000														20			16		0	0	1	0	0
PLD3	23646	broad.mit.edu	37	19	40876110	40876110	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:40876110G>A	uc002onm.4	+	7	1042	c.644G>A	c.(643-645)gGc>gAc	p.G215D	PLD3_uc002onj.4_Missense_Mutation_p.G215D|PLD3_uc002onn.3_Missense_Mutation_p.G215D	NM_001031696	NP_036400	Q8IV08	PLD3_HUMAN	Homo sapiens phospholipase D family, member 3 (PLD3), transcript variant 1, mRNA.	215	PLD phosphodiesterase 1.				lipid catabolic process	endoplasmic reticulum membrane|integral to membrane	NAPE-specific phospholipase D activity|phospholipase D activity|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20			Lung(22;0.000636)|LUSC - Lung squamous cell carcinoma(20;0.00248)			TTCTACCTGGGCAGTGCCAAC	0.622000														34			5		0	0	1	0	0
FAM22G	441457	broad.mit.edu	37	9	99694511	99694511	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:99694511C>T	uc022bkp.1	+	1	545	c.524C>T	c.(523-525)gCt>gTt	p.A175V	FAM22G_uc004awq.2_Missense_Mutation_p.A175V	NM_001170741	NP_001164212	Q5VZR2	FA22G_HUMAN	Homo sapiens family with sequence similarity 22, member G (FAM22G), transcript variant 2, mRNA.	175										central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(5)|skin(2)|stomach(1)	17		Acute lymphoblastic leukemia(62;0.0527)				CCAGGGAACGCTGGGCCATGG	0.682000														100			6		0	0	1	0	0
RABGAP1	23637	broad.mit.edu	37	9	125719414	125719414	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:125719414G>A	uc011lzh.2	+	1	210	c.76G>A	c.(76-78)Gtc>Atc	p.V26I	RABGAP1_uc004bnl.4_Non-coding_Transcript|RABGAP1_uc004bnm.1_Missense_Mutation_p.V26I	NM_012197	NP_036329	Q9Y3P9	RBGP1_HUMAN	Homo sapiens RAB GTPase activating protein 1 (RABGAP1), mRNA.	26					cell cycle	centrosome|cytosol|microtubule associated complex	Rab GTPase activator activity|tubulin binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						TGAAGATTTTGTCTTGGTTTC	0.383000														17			12		0	0	1	0	0
UPP2	151531	broad.mit.edu	37	2	158971709	158971709	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:158971709G>T	uc002tzo.3	+	4	468	c.448G>T	c.(448-450)Gac>Tac	p.D150Y	UPP2_uc002tzp.3_Missense_Mutation_p.D93Y	NM_001135098	NP_775491	O95045	UPP2_HUMAN	Homo sapiens uridine phosphorylase 2 (UPP2), transcript variant 2, mRNA.	93					nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|uridine metabolic process	cytosol|type III intermediate filament	uridine phosphorylase activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31						AGACATAAAAGACATCTGTGC	0.473000														34			31		1.08312e-15	1.366e-15	1	1	0
CD99L2	83692	broad.mit.edu	37	X	149963705	149963705	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:149963705C>T	uc004fek.3	-	5	644	c.416G>A	c.(415-417)cGc>cAc	p.R139H	CD99L2_uc011myb.2_Intron|CD99L2_uc004feo.3_Non-coding_Transcript|CD99L2_uc004fel.3_Missense_Mutation_p.R135H|CD99L2_uc004fem.3_Missense_Mutation_p.R86H|CD99L2_uc004fen.3_Missense_Mutation_p.R63H	NM_001242614	NP_001229543	Q8TCZ2	C99L2_HUMAN	Homo sapiens CD99 molecule-like 2 (CD99L2), transcript variant 5, mRNA.	135					cell adhesion	cell junction|integral to membrane				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					TGGTTTCCTGCGGCCATCATC	0.478000														135			61		0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7696355	7696355	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7696355G>T	uc002giu.1	+	46	7415	c.7401G>T	c.(7399-7401)aaG>aaT	p.K2467N		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	2467	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				AGCGAACCAAGGGTGTCTACG	0.517000														31			36		6.19805e-25	8.10333e-25	1	1	0
CYP7A1	1581	broad.mit.edu	37	8	59409377	59409377	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:59409377G>T	uc003xtm.4	-	2	757	c.694C>A	c.(694-696)Cac>Aac	p.H232N		NM_000780	NP_000771	P22680	CP7A1_HUMAN	Homo sapiens cytochrome P450, family 7, subfamily A, polypeptide 1 (CYP7A1), mRNA.	232					bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1)	34		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				CGGGCATTGTGCGCAGTCCTG	0.488000									Neonatal Giant Cell Hepatitis					118			10		0.00621372	0.00645399	1	1	0
CFLAR	8837	broad.mit.edu	37	2	202025238	202025238	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:202025238C>A	uc002uxb.4	+	8	1342	c.877C>A	c.(877-879)Ctt>Att	p.L293I	CFLAR_uc010zhk.2_Missense_Mutation_p.L197I|CFLAR_uc010zhl.2_Missense_Mutation_p.L197I|CFLAR_uc002uxc.4_Missense_Mutation_p.L258I|CFLAR_uc010fsw.2_Non-coding_Transcript|CFLAR_uc002uxd.4_Missense_Mutation_p.L293I|CFLAR_uc010fsx.3_Intron|CFLAR_uc010fsy.3_Intron|CFLAR_uc002uxf.3_Missense_Mutation_p.L293I|CFLAR_uc010zhm.2_Missense_Mutation_p.L197I|CFLAR_uc010fsz.3_Missense_Mutation_p.L48I|CFLAR_uc002uxg.3_Missense_Mutation_p.L48I|CFLAR-AS1_uc002uxh.1_5'Flank	NM_003879	NP_001189446	O15519	CFLAR_HUMAN	Homo sapiens CASP8 and FADD-like apoptosis regulator (CFLAR), transcript variant 1, mRNA.	293	Caspase.|Interaction with TRAF1 and TRAF2.|Interaction with caspase-3.|Interaction with caspase-8 propeptide.|Interaction with caspase-8 subunits p18 and p10.|Not proteolytically processed and involved in apoptosis inhibition.				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis		cysteine-type endopeptidase activity|protein binding	p.L293V(2)|p.L293I(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|stomach(1)	13						ATCCCAGATTCTTGGCCAATT	0.498000														112			56		6.56871e-35	8.70444e-35	1	1	0
KCNT2	343450	broad.mit.edu	37	1	196274387	196274387	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:196274387G>A	uc001gtd.1	-	21	2632	c.2572C>T	c.(2572-2574)Ctt>Ttt	p.L858F	KCNT2_uc009wyt.1_Non-coding_Transcript|KCNT2_uc001gte.1_Missense_Mutation_p.L784F|KCNT2_uc001gtf.1_Missense_Mutation_p.L834F|KCNT2_uc001gtg.1_Intron|KCNT2_uc009wyu.3_Missense_Mutation_p.L834F|KCNT2_uc001gth.1_Missense_Mutation_p.L355F	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	Homo sapiens potassium channel, subfamily T, member 2 (KCNT2), mRNA.	858						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						GAAAGAGCAAGAGAGTAACAG	0.338000														34			30		0	0	1	0	0
LGALS3BP	3959	broad.mit.edu	37	17	76968416	76968416	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:76968416C>T	uc002jwh.3	-	5	1179	c.1000G>A	c.(1000-1002)Gcc>Acc	p.A334T	LGALS3BP_uc002jwi.3_Missense_Mutation_p.A140T	NM_005567	NP_005558	Q08380	LG3BP_HUMAN	Homo sapiens lectin, galactoside-binding, soluble, 3 binding protein (LGALS3BP), mRNA.	334	BACK.				cell adhesion|cellular defense response	extracellular space|membrane|proteinaceous extracellular matrix	protein binding|scavenger receptor activity			NS(1)|breast(1)|central_nervous_system(5)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(99;0.0677)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			TCATGGGAGGCACGCTCCCCC	0.637000														54			5		0	0	1	0	0
KRT25	147183	broad.mit.edu	37	17	38906730	38906730	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:38906730G>A	uc002hve.3	-	5	1138	c.1077C>T	c.(1075-1077)acC>acT	p.T359T		NM_181534	NP_853512	Q7Z3Z0	K1C25_HUMAN	Homo sapiens keratin 25 (KRT25), mRNA.	359	Coil 2.|Rod.					cytoplasm|intermediate filament	structural molecule activity			endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				TCTGGCCCTCGGTCTCGGTTC	0.567000														247			16		0	0	1	0	0
SPTLC3	55304	broad.mit.edu	37	20	13098296	13098296	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:13098296C>T	uc002wod.1	+	7	1365	c.1076C>T	c.(1075-1077)cCt>cTt	p.P359L		NM_018327	NP_060797	Q9NUV7	SPTC3_HUMAN	Homo sapiens serine palmitoyltransferase, long chain base subunit 3 (SPTLC3), mRNA.	359					sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25					Pyridoxal Phosphate(DB00114)	GGACTAGACCCTCATGAAGTT	0.502000														59			33		0	0	1	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102478325	102478325	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:102478325C>T	uc001yks.2	+	32	6896	c.6732C>T	c.(6730-6732)ctC>ctT	p.L2244L		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	Homo sapiens dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1), mRNA.	2244	AAA 2 (By similarity).				G2/M transition of mitotic cell cycle|cytoplasmic mRNA processing body assembly|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	Golgi apparatus|centrosome|cytoplasmic dynein complex|cytosol|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						TGGAGAGACTCGAGGGTGTGG	0.577000														19			13		0	0	1	0	0
TRIM62	55223	broad.mit.edu	37	1	33646764	33646764	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:33646764C>T	uc001bxb.3	-	0	908	c.270G>A	c.(268-270)gcG>gcA	p.A90A		NM_018207	NP_060677	Q9BVG3	TRI62_HUMAN	Homo sapiens tripartite motif containing 62 (TRIM62), mRNA.	90						intracellular	zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)				GGCAGGGTCGCGCGGCGCGGC	0.687000														5			4		0	0	1	0	0
ARMC5	79798	broad.mit.edu	37	16	31473784	31473784	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:31473784G>A	uc010vfn.2	+	4	1325	c.1201G>A	c.(1201-1203)Gcc>Acc	p.A401T	ARMC5_uc010vfo.2_Missense_Mutation_p.A338T|ARMC5_uc002ecc.3_Missense_Mutation_p.A306T|ARMC5_uc002eca.4_Missense_Mutation_p.A306T|ARMC5_uc002ecb.2_Missense_Mutation_p.A306T|ARMC5_uc010vfp.2_Intron	NM_001105247	NP_001098717	Q96C12	ARMC5_HUMAN	Homo sapiens armadillo repeat containing 5 (ARMC5), transcript variant 1, mRNA.	306							binding			central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						TCTGATCCTCGCCAACCTGTG	0.642000														15			22		0	0	1	0	0
GABRB3	2562	broad.mit.edu	37	15	26866633	26866633	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:26866633G>A	uc001zbb.3	-	4	560	c.457C>T	c.(457-459)Ctc>Ttc	p.L153F	GABRB3_uc021sgg.1_Missense_Mutation_p.L26F|GABRB3_uc021sgh.1_Missense_Mutation_p.L12F|GABRB3_uc001zaz.3_Missense_Mutation_p.L97F|GABRB3_uc001zba.3_Missense_Mutation_p.L97F|GABRB3_uc001zbc.3_Non-coding_Transcript	NM_001191320	NP_001178249	P28472	GBRB3_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 3 (GABRB3), transcript variant 3, mRNA.	97					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity	p.G152G(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	GAATAGGCGAGCCTTTTATCT	0.423000														36			19		0	0	1	0	0
ODZ1	10178	broad.mit.edu	37	X	123517894	123517894	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:123517894G>A	uc010nqy.3	-	29	6951	c.6887C>T	c.(6886-6888)tCg>tTg	p.S2296L	ODZ1_uc011muj.2_Missense_Mutation_p.S2295L|ODZ1_uc004euj.3_Missense_Mutation_p.S2289L	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	2289					immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	212						TGTAATCTCCGAGCTTGTGTG	0.443000														93			66		0	0	1	0	0
KIF21A	55605	broad.mit.edu	37	12	39763653	39763653	+	Nonsense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:39763653C>A	uc001rly.3	-	2	748	c.328G>T	c.(328-330)Gaa>Taa	p.E110*	KIF21A_uc001rlx.3_Nonsense_Mutation_p.E110*|KIF21A_uc001rlz.3_Nonsense_Mutation_p.E110*|KIF21A_uc010skl.2_Nonsense_Mutation_p.E110*	NM_001173464	NP_001166935	Q7Z4S6	KI21A_HUMAN	Homo sapiens kinesin family member 21A (KIF21A), transcript variant 1, mRNA.	110	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				ATACCCAGTTCTTCCTCAACA	0.338000														48			5		0.00198382	0.00208369	1	1	0
CRY1	1407	broad.mit.edu	37	12	107395629	107395629	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:107395629T>C	uc001tmi.3	-	3	1367	c.508A>G	c.(508-510)Att>Gtt	p.I170V		NM_004075	NP_004066	Q16526	CRY1_HUMAN	Homo sapiens cryptochrome 1 (photolyase-like) (CRY1), mRNA.	170	DNA photolyase.				DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA photolyase activity|blue light photoreceptor activity|double-stranded DNA binding|nucleotide binding|protein binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|skin(1)	29						TCTGAAGTAATTGTCTCTACT	0.413000														139			16		0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145368641	145368641	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:145368641G>A	uc021oul.1	+	83	10654	c.10619G>A	c.(10618-10620)aGt>aAt	p.S3540N	NBPF10_uc010oye.2_Missense_Mutation_p.S899N|NBPF10_uc010oyi.2_Missense_Mutation_p.S468N|NBPF10_uc010oyj.2_Missense_Mutation_p.S256N|NBPF10_uc010oyl.2_Missense_Mutation_p.S256N	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA.	3540										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ACGGTGACAAGTCTCCACCTG	0.463000														381			23		0	0	1	0	0
XRCC2	7516	broad.mit.edu	37	7	152357857	152357857	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:152357857C>T	uc003wld.3	-	1	136	c.50G>A	c.(49-51)cGa>cAa	p.R17Q		NM_005431	NP_005422	O43543	XRCC2_HUMAN	Homo sapiens X-ray repair complementing defective repair in Chinese hamster cells 2 (XRCC2), mRNA.	17					meiosis	nucleus	ATP binding|DNA binding|DNA-dependent ATPase activity			NS(1)|breast(1)|large_intestine(5)|liver(1)|lung(1)|prostate(2)	11		all_hematologic(28;0.0592)|Prostate(32;0.081)	OV - Ovarian serous cystadenocarcinoma(82;0.0423)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0429)		ACCTTCAAGTCGGGCAAGGAG	0.308000								Homologous recombination						48			33		0	0	1	0	0
GPR89A	653519	broad.mit.edu	37	1	145765405	145765405	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:145765405G>T	uc001eot.2	-	12	1299	c.1125C>A	c.(1123-1125)tcC>tcA	p.S375S	GPR89A_uc001eop.2_Silent_p.S73S|GPR89A_uc001eoq.2_Non-coding_Transcript|GPR89A_uc010ozb.1_Silent_p.S350S|GPR89A_uc010ozc.1_Silent_p.S350S|GPR89A_uc001eos.2_Silent_p.S255S|GPR89A_uc010ozd.1_Silent_p.S322S|GPR89A_uc010oze.1_Silent_p.S375S	NM_001097612	NP_001091082	B7ZAQ6	GPHRA_HUMAN	Homo sapiens G protein-coupled receptor 89A (GPR89A), transcript variant 1, mRNA.	375					intracellular pH reduction|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein transport	Golgi cisterna membrane|Golgi-associated vesicle membrane|integral to membrane	signal transducer activity|voltage-gated anion channel activity			breast(1)|large_intestine(3)|lung(1)|skin(1)	6	all_hematologic(18;0.00473)|Acute lymphoblastic leukemia(18;0.0786)		KIRC - Kidney renal clear cell carcinoma(6;0.0764)|Kidney(552;0.118)|Colorectal(543;0.229)			TGACATTGGAGGACTTACTGC	0.348000														233			75		3.27475e-32	4.32782e-32	1	1	0
TNPO1	3842	broad.mit.edu	37	5	72199591	72199591	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:72199591T>C	uc003kck.4	+	22	2717	c.2570T>C	c.(2569-2571)cTc>cCc	p.L857P	TNPO1_uc011csj.1_Missense_Mutation_p.L807P|TNPO1_uc003kci.4_Missense_Mutation_p.L849P|TNPO1_uc003kcg.4_Missense_Mutation_p.L849P	NM_002270	NP_694858	Q92973	TNPO1_HUMAN	Homo sapiens transportin 1 (TNPO1), transcript variant 1, mRNA.	857					interspecies interaction between organisms|mRNA metabolic process|protein import into nucleus, translocation	cytosol|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(6)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	36		Lung NSC(167;0.0053)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)		AAAGATGATCTCAGAGACATG	0.299000														76			39		0	0	1	0	0
ODZ4	26011	broad.mit.edu	37	11	78383351	78383351	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:78383351A>G	uc001ozl.4	-	30	5983	c.5520T>C	c.(5518-5520)tcT>tcC	p.S1840S	ODZ4_uc001ozk.4_Silent_p.S65S	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA.	1840					signal transduction	integral to membrane				breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						CAAAGTCCAGAGATAGGAGAT	0.512000														51			15		0	0	1	0	0
SRRM2	23524	broad.mit.edu	37	16	2812622	2812622	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:2812622G>A	uc002crk.3	+	10	2642	c.2093G>A	c.(2092-2094)aGa>aAa	p.R698K	SRRM2_uc002crj.1_Missense_Mutation_p.R602K|SRRM2_uc002crl.1_Missense_Mutation_p.R698K|SRRM2_uc010bsu.1_Missense_Mutation_p.R602K	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	Homo sapiens serine/arginine repetitive matrix 2 (SRRM2), mRNA.	698	Arg-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|RNA binding|protein N-terminus binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						AGGACACCAAGACGAGGAAGA	0.552000														71			12		0	0	1	0	0
AKAP6	9472	broad.mit.edu	37	14	33291101	33291101	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:33291101G>A	uc001wrq.3	+	12	4252	c.4082G>A	c.(4081-4083)gGc>gAc	p.G1361D		NM_004274	NP_004265	Q13023	AKAP6_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 6 (AKAP6), mRNA.	1361					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)		CAGAATTCAGGCAGTGAGAGT	0.458000														50			27		0	0	1	0	0
SEC23A	10484	broad.mit.edu	37	14	39524384	39524384	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:39524384T>C	uc001wup.1	-	13	1845	c.1622A>G	c.(1621-1623)gAt>gGt	p.D541G	SEC23A_uc010tqa.1_Missense_Mutation_p.D403G|SEC23A_uc010tqb.1_Missense_Mutation_p.D512G	NM_006364	NP_006355	Q15436	SC23A_HUMAN	Homo sapiens Sec23 homolog A (S. cerevisiae) (SEC23A), mRNA.	541					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|Golgi membrane|cytosol|smooth endoplasmic reticulum membrane	protein binding|zinc ion binding			kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1)	23	Hepatocellular(127;0.213)		Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)		CCTAAGCACATCTGGACCTTC	0.418000														95			10		0	0	1	0	0
ACTN2	88	broad.mit.edu	37	1	236917269	236917269	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:236917269G>A	uc001hyf.2	+	15	2066	c.1862G>A	c.(1861-1863)cGc>cAc	p.R621H	ACTN2_uc001hyg.2_Missense_Mutation_p.R413H|ACTN2_uc009xgi.1_Missense_Mutation_p.R621H|ACTN2_uc010pxu.1_Missense_Mutation_p.R310H	NM_001103	NP_001094	P35609	ACTN2_HUMAN	Homo sapiens actinin, alpha 2 (ACTN2), mRNA.	621					focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	Z disc|actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium	FATZ 1 binding|ZASP binding|actin binding|calcium ion binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin Z domain binding|titin binding			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			GTGCCCATCCGCGATCAATCC	0.587000														90			36		0	0	1	0	0
ITPK1	3705	broad.mit.edu	37	14	93429188	93429188	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:93429188C>A	uc001ybg.3	-	5	660	c.371G>T	c.(370-372)aGg>aTg	p.R124M	ITPK1_uc001ybe.2_Missense_Mutation_p.R124M|ITPK1_uc001ybf.3_Missense_Mutation_p.R5M|ITPK1_uc001ybh.3_Missense_Mutation_p.R124M	NM_014216	NP_055031	Q13572	ITPK1_HUMAN	Homo sapiens inositol-tetrakisphosphate 1-kinase (ITPK1), transcript variant 1, mRNA.	124	ATP-grasp.				blood coagulation|inositol trisphosphate metabolic process|signal transduction	cytosol	ATP binding|hydrolase activity|inositol tetrakisphosphate 1-kinase activity|inositol-1,3,4-trisphosphate 5/6-kinase activity|isomerase activity|ligase activity|magnesium ion binding			endometrium(1)|large_intestine(3)|lung(6)|ovary(1)	11		all_cancers(154;0.077)|all_epithelial(191;0.247)		Epithelial(152;0.124)|all cancers(159;0.169)		CGAGCAGATCCTGTCGTCTAG	0.647000														29			14		9.31168e-06	1.03939e-05	1	1	0
ST13	6767	broad.mit.edu	37	22	41231579	41231579	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:41231579C>T	uc003aze.3	-	6	706	c.563G>A	c.(562-564)cGg>cAg	p.R188Q	ST13_uc011aow.2_Missense_Mutation_p.R178Q	NM_003932	NP_003923	P50502	F10A1_HUMAN	Homo sapiens suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) (ST13), mRNA.	188							protein binding, bridging			cervix(1)|large_intestine(1)|lung(3)|skin(1)	6						TGCTTTCCCCCGCCACTTGTA	0.358000														195			24		0	0	1	0	0
LRG1	116844	broad.mit.edu	37	19	4538043	4538043	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:4538043T>C	uc002mau.3	-	1	964	c.953A>G	c.(952-954)aAa>aGa	p.K318R	PLIN5_uc002mas.3_5'Flank|PLIN5_uc002mat.1_Intron	NM_052972	NP_443204	P02750	A2GL_HUMAN	Homo sapiens leucine-rich alpha-2-glycoprotein 1 (LRG1), mRNA.	318	LRRCT.					extracellular region|membrane				NS(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		CATCTTGTCTTTTTGGGCCTG	0.592000														53			4		0	0	1	0	0
IL3RA	3563	broad.mit.edu	37	X	1475123	1475123	+	Missense_Mutation	SNP	C	A	A	rs149064100		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:1475123C>A	uc004cps.3	+	6	975	c.626C>A	c.(625-627)aCt>aAt	p.T209N	CRLF2_uc022brt.1_Intron|IL3RA_uc011mhd.2_Missense_Mutation_p.T131N	NM_002183	NP_002174	P26951	IL3RA_HUMAN	Homo sapiens interleukin 3 receptor, alpha (low affinity) (IL3RA), mRNA.	209						integral to membrane|plasma membrane	interleukin-3 receptor activity			lung(1)|skin(2)	3		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	GAGATATTAACTCCACCCAAC	0.328000														101			7		0.27861	0.27975	1	1	0
USP15	9958	broad.mit.edu	37	12	62749132	62749132	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:62749132G>A	uc001src.2	+	7	866	c.791G>A	c.(790-792)tGt>tAt	p.C264Y	USP15_uc001srb.2_Missense_Mutation_p.C235Y	NM_001252078	NP_001239007	Q9Y4E8	UBP15_HUMAN	Homo sapiens ubiquitin specific peptidase 15 (USP15), transcript variant 1, mRNA.	264					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		TCAAATTACTGTCTTCCATCA	0.333000														27			9		0	0	1	0	0
NKX2-2	4821	broad.mit.edu	37	20	21494286	21494286	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:21494286T>C	uc002wsi.3	-	0	379	c.22A>G	c.(22-24)Acg>Gcg	p.T8A		NM_002509	NP_002500	O95096	NKX22_HUMAN	Homo sapiens NK2 homeobox 2 (NKX2-2), mRNA.	8					brain development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	chromatin binding|core promoter proximal region DNA binding|transcription coactivator activity	p.T8T(1)		endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						GAAAACCCCGTCTTTGTGTTG	0.587000														54			4		0	0	1	0	0
SLC25A3	5250	broad.mit.edu	37	12	98992475	98992475	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:98992475T>C	uc001tfo.3	+	4	758	c.638T>C	c.(637-639)cTa>cCa	p.L213P	SLC25A3_uc001tfm.3_Missense_Mutation_p.L212P|SLC25A3_uc001tfn.3_Missense_Mutation_p.L212P|SLC25A3_uc001tfp.3_Missense_Mutation_p.L212P|SLC25A3_uc001tfq.3_Missense_Mutation_p.L82P|SLC25A3_uc001tfr.3_Missense_Mutation_p.L213P|SLC25A3_uc001tfs.3_Missense_Mutation_p.L169P|SNORA53_uc001tfu.1_5'Flank	NM_005888	NP_005879	Q00325	MPCP_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3 (SLC25A3), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	213					generation of precursor metabolites and energy	integral to plasma membrane|mitochondrial inner membrane	phosphate carrier activity|symporter activity			breast(1)|endometrium(2)|large_intestine(4)|lung(8)|prostate(1)	16		Lung NSC(355;4.08e-05)|Breast(359;0.00191)|Colorectal(145;0.00205)|Myeloproliferative disorder(1001;0.0255)		GBM - Glioblastoma multiforme(134;1.36e-23)|BRCA - Breast invasive adenocarcinoma(302;0.000115)		GAAGAAGGCCTAAAAGCGTAA	0.338000														33			4		0	0	1	0	0
MAP3K3	4215	broad.mit.edu	37	17	61770979	61770979	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:61770979G>A	uc002jbg.3	+	15	2042	c.1723G>A	c.(1723-1725)Gcc>Acc	p.A575T	MAP3K3_uc002jbe.3_Missense_Mutation_p.A606T|MAP3K3_uc002jbf.3_Missense_Mutation_p.A606T|MAP3K3_uc002jbh.3_Missense_Mutation_p.A602T|MAP3K3_uc010wpo.2_Missense_Mutation_p.A490T|MAP3K3_uc010wpp.2_Missense_Mutation_p.A571T	NM_002401	NP_002392	Q99759	M3K3_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 3 (MAP3K3), transcript variant 2, mRNA.	575	Protein kinase.				MAPKKK cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autophosphorylation	cytosol	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding	p.A575T(2)		breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	28						AGCTATGGCCGCCATCTTCAA	0.587000														49			27		0	0	1	0	0
RNF130	55819	broad.mit.edu	37	5	179440075	179440075	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:179440075G>A	uc003mll.1	-	2	1086	c.679C>T	c.(679-681)Cgc>Tgc	p.R227C	RNF130_uc003mlm.1_Missense_Mutation_p.R227C	NM_018434	NP_060904	Q86XS8	GOLI_HUMAN	Homo sapiens ring finger protein 130 (RNF130), mRNA.	227					apoptosis	cytoplasm|integral to membrane|nucleus	ubiquitin-protein ligase activity|zinc ion binding			breast(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	17	all_cancers(89;5.49e-05)|all_epithelial(37;1.94e-05)|Renal(175;0.000159)|Lung NSC(126;0.00118)|all_lung(126;0.00212)	all_cancers(40;0.0294)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TTCCTGTCGCGTGCATTTGTG	0.413000														107			61		0	0	1	0	0
RIMBP2	23504	broad.mit.edu	37	12	130926933	130926933	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:130926933G>T	uc001uil.2	-	7	1129	c.913C>A	c.(913-915)Ctc>Atc	p.L305I	RIMBP2_uc001uim.3_Missense_Mutation_p.L213I	NM_015347	NP_056162	O15034	RIMB2_HUMAN	Homo sapiens RIMS binding protein 2 (RIMBP2), mRNA.	305	Fibronectin type-III 1.					cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		TGTTTGATGAGGGTGATTTTT	0.567000														74			41		6.68952e-21	8.64658e-21	1	1	0
PARP8	79668	broad.mit.edu	37	5	50125766	50125766	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:50125766C>T	uc003jon.4	+	22	2386	c.2204C>T	c.(2203-2205)cCa>cTa	p.P735L	PARP8_uc011cpz.2_Missense_Mutation_p.P627L|PARP8_uc003joo.3_Missense_Mutation_p.P735L|PARP8_uc003jop.3_Missense_Mutation_p.P693L	NM_001178055	NP_078891	Q8N3A8	PARP8_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 8 (PARP8), transcript variant 1, mRNA.	735	PARP catalytic.					intracellular	NAD+ ADP-ribosyltransferase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				TATCTTAGTCCAATGTCAAGC	0.333000														55			29		0	0	1	0	0
STK33	65975	broad.mit.edu	37	11	8457657	8457657	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:8457657C>A	uc001mgi.1	-	8	1896	c.977G>T	c.(976-978)aGc>aTc	p.S326I	STK33_uc001mgj.1_Missense_Mutation_p.S326I|STK33_uc001mgk.1_Missense_Mutation_p.S326I|STK33_uc010rbn.1_Missense_Mutation_p.S285I|STK33_uc001mgl.3_Missense_Mutation_p.S139I|STK33_uc009yfp.3_Missense_Mutation_p.S48I	NM_030906	NP_112168	Q9BYT3	STK33_HUMAN	Homo sapiens serine/threonine kinase 33 (STK33), mRNA.	326	Protein kinase.					Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3)	23				Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)		CTCTTCTGAGCTTGCCAAAAA	0.323000														31			10		3.86212e-05	4.23294e-05	1	1	0
C6orf1	221491	broad.mit.edu	37	6	34214829	34214829	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:34214829C>T	uc003ojf.3	-	3	709	c.117G>A	c.(115-117)gaG>gaA	p.E39E	BC015662_uc003oje.1_5'Flank|C6orf1_uc003ojg.3_Silent_p.E39E|C6orf1_uc003ojh.3_Silent_p.E39E|C6orf1_uc003oji.3_Non-coding_Transcript	NM_178508	NP_848603	Q86T20	CF001_HUMAN	Homo sapiens chromosome 6 open reading frame 1 (C6orf1), transcript variant 1, mRNA.	39						extracellular region				endometrium(1)|prostate(1)	2		Ovarian(999;0.0228)		BRCA - Breast invasive adenocarcinoma(397;1.11e-10)		ACCTTGGGGTCTCCCATGTCA	0.612000											OREG0017364	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		81			55		0	0	1	0	0
ADAM18	8749	broad.mit.edu	37	8	39550197	39550197	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:39550197G>T	uc003xni.3	+	16	1955	c.1900G>T	c.(1900-1902)Ggg>Tgg	p.G634W	ADAM18_uc010lww.3_Non-coding_Transcript|ADAM18_uc010lwx.3_Missense_Mutation_p.G610W	NM_014237	NP_055052	Q9Y3Q7	ADA18_HUMAN	Homo sapiens ADAM metallopeptidase domain 18 (ADAM18), transcript variant 1, mRNA.	634	EGF-like.				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			CAAAGGGAAAGGGGTAAGTCA	0.338000														48			5		3.59834e-05	3.95114e-05	1	1	0
ZNF445	353274	broad.mit.edu	37	3	44489264	44489264	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:44489264G>T	uc003cnf.2	-	7	2247	c.1899C>A	c.(1897-1899)acC>acA	p.T633T	ZNF445_uc011azv.1_Silent_p.T621T|ZNF445_uc011azw.1_Silent_p.T633T	NM_181489	NP_852466	P59923	ZN445_HUMAN	Homo sapiens zinc finger protein 445 (ZNF445), mRNA.	633					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		TCCATCTAAAGGTTTTCCTAC	0.413000														133			10		2.74318e-10	3.3084e-10	1	1	0
NOLC1	9221	broad.mit.edu	37	10	103916958	103916958	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:103916958C>T	uc001kup.2	+	2	424	c.189C>T	c.(187-189)gtC>gtT	p.V63V	NOLC1_uc001kuo.2_Silent_p.V63V|NOLC1_uc001kuq.2_Silent_p.V64V|NOLC1_uc009xxb.1_Intron|NOLC1_uc001kur.2_Intron	NM_004741	NP_004732	Q14978	NOLC1_HUMAN	Homo sapiens nucleolar and coiled-body phosphoprotein 1 (NOLC1), mRNA.	63					mitosis|rRNA processing	cytoplasm|nucleolus	ATP binding|GTP binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	31		Colorectal(252;0.122)		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)		CTGCCAAGGTCCCAGAGCGAA	0.512000														54			32		0	0	1	0	0
IRF9	10379	broad.mit.edu	37	14	24632221	24632221	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:24632221G>A	uc001wmq.3	+	2	1047	c.227G>A	c.(226-228)gGt>gAt	p.G76D	RNF31_uc001wmp.3_Non-coding_Transcript|IRF9_uc010alj.3_5'UTR	NM_006084	NP_006075	Q00978	IRF9_HUMAN	Homo sapiens interferon regulatory factor 9 (IRF9), mRNA.	76					interferon-gamma-mediated signaling pathway|response to virus|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|nucleoplasm	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(265;0.00853)		GACACAGGAGGTCCAGCTGTC	0.537000														20			16		0	0	1	0	0
EBAG9	9166	broad.mit.edu	37	8	110569236	110569236	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:110569236G>T	uc003ynf.3	+	4	629	c.394G>T	c.(394-396)Gca>Tca	p.A132S	EBAG9_uc010mcn.1_Non-coding_Transcript|EBAG9_uc003yng.3_Missense_Mutation_p.A132S	NM_198120	NP_936056	O00559	RCAS1_HUMAN	Homo sapiens estrogen receptor binding site associated, antigen, 9 (EBAG9), transcript variant 2, mRNA.	132					apoptosis|regulation of cell growth	Golgi membrane|focal adhesion|integral to membrane|soluble fraction	apoptotic protease activator activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)	10			OV - Ovarian serous cystadenocarcinoma(57;1.39e-14)			TAGTAGATTAGCAGCTACACA	0.343000														30			6		0.0293803	0.0299714	1	1	0
KAZN	23254	broad.mit.edu	37	1	15361333	15361333	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:15361333C>T	uc001avm.4	+	2	788	c.507C>T	c.(505-507)cgC>cgT	p.R169R	KAZN_uc009vog.1_Silent_p.R169R|KAZN_uc001avo.2_Silent_p.R163R|KAZN_uc001avp.2_Silent_p.R75R|KAZN_uc001avq.2_Silent_p.R75R|KAZN_uc001avr.2_Silent_p.R72R	NM_201628	NP_963922	Q674X7	KAZRN_HUMAN	Homo sapiens kazrin, periplakin interacting protein (KAZN), transcript variant E, mRNA.	169					keratinization	cornified envelope|cytoplasm|desmosome|nucleus				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(1)|prostate(2)	25						TGGAGAGCCGCGAGGAGCAGC	0.617000														53			18		0	0	1	0	0
KAT6B	23522	broad.mit.edu	37	10	76729777	76729777	+	Splice_Site	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:76729777G>T	uc001jwn.1	+	6	1340	c.847_splice	c.e6-1	p.D283_splice	KAT6B_uc001jwm.1_Splice_Site_p.D283_splice|KAT6B_uc001jwo.1_Splice_Site_p.D283_splice|KAT6B_uc001jwp.1_Splice_Site_p.D283_splice	NM_012330	NP_036462	Q8WYB5	MYST4_HUMAN	Homo sapiens K(lysine) acetyltransferase 6B (KAT6B), mRNA.	283					histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding										TTATATTACAGGATAATATGC	0.328000														20			11		3.07112e-06	3.45634e-06	1	1	0
SUGP2	10147	broad.mit.edu	37	19	19121087	19121087	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:19121087G>A	uc002nkz.1	-	4	1977	c.1957C>T	c.(1957-1959)Cgg>Tgg	p.R653W	SUGP2_uc002nkx.2_Missense_Mutation_p.R639W|SUGP2_uc002nla.1_Missense_Mutation_p.R639W|SUGP2_uc002nlb.2_Missense_Mutation_p.R639W|SUGP2_uc010xqk.1_Missense_Mutation_p.R408W	NM_014884	NP_055699	Q8IX01	SUGP2_HUMAN	Homo sapiens SURP and G patch domain containing 2 (SUGP2), transcript variant 2, mRNA.	639					RNA splicing|mRNA processing	nucleus	RNA binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						TCGCTCATCCGCTGCATTTCT	0.478000														216			15		0	0	1	0	0
TUBD1	51174	broad.mit.edu	37	17	57943976	57943976	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:57943976C>A	uc002ixw.2	-	6	1357	c.1069G>T	c.(1069-1071)Gat>Tat	p.D357Y	TUBD1_uc010wok.2_Missense_Mutation_p.D357Y|TUBD1_uc010ddf.2_Intron|TUBD1_uc010wol.2_Missense_Mutation_p.D141Y|TUBD1_uc010ddg.2_Missense_Mutation_p.D322Y|TUBD1_uc010ddi.2_Missense_Mutation_p.D103Y|TUBD1_uc010ddh.2_Missense_Mutation_p.D183Y|TUBD1_uc002ixx.2_Missense_Mutation_p.D302Y	NM_016261	NP_001180542	Q9UJT1	TBD_HUMAN	Homo sapiens tubulin, delta 1 (TUBD1), transcript variant 1, mRNA.	357					cell differentiation|microtubule-based movement|multicellular organismal development|protein polymerization|spermatogenesis	centriole|microtubule|nucleus	GTP binding|GTPase activity|structural molecule activity			NS(2)|breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(2)	21	all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;9.34e-13)|all cancers(12;1.91e-11)			TTACCCACATCTGCACTTTGC	0.373000														48			29		1.80694e-10	2.18278e-10	1	1	0
CBLN3	643866	broad.mit.edu	37	14	24897069	24897069	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:24897069G>A	uc001wpg.4	-	2	1015	c.544C>T	c.(544-546)Cgc>Tgc	p.R182C	KHNYN_uc010tpc.2_5'Flank|KHNYN_uc001wph.4_5'Flank|KHNYN_uc010alw.3_5'Flank	NM_001039771	NP_001034860	Q6UW01	CBLN3_HUMAN	Homo sapiens cerebellin 3 precursor (CBLN3), mRNA.	182	C1q.|Necessary for interaction with CBLN3, and homotrimerization (By similarity).					cell junction|extracellular region|synapse				central_nervous_system(1)|lung(3)	4				GBM - Glioblastoma multiforme(265;0.00159)		CGACGCAGGCGCAGAGACACT	0.567000														86			57		0	0	1	0	0
SLC12A7	10723	broad.mit.edu	37	5	1093734	1093734	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:1093734G>A	uc003jbu.3	-	2	322	c.256C>T	c.(256-258)Ctc>Ttc	p.L86F		NM_006598	NP_006589	Q9Y666	S12A7_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 7 (SLC12A7), mRNA.	86					potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	AGCTTGTTGAGCAGCGAGGAC	0.687000														17			7		0	0	1	0	0
EIF5B	9669	broad.mit.edu	37	2	100013244	100013244	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:100013244C>T	uc002tab.3	+	21	3460	c.3276C>T	c.(3274-3276)tgC>tgT	p.C1092C	EIF5B_uc010yvq.2_Silent_p.C74C	NM_015904	NP_056988	O60841	IF2P_HUMAN	Homo sapiens eukaryotic translation initiation factor 5B (EIF5B), mRNA.	1092					regulation of translational initiation	cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TATTTCCCTGCAAGATAAAAA	0.408000														126			8		0	0	1	0	0
C2orf42	54980	broad.mit.edu	37	2	70408996	70408996	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:70408996C>T	uc002sgh.3	-	2	450	c.122G>A	c.(121-123)aGc>aAc	p.S41N		NM_017880	NP_060350	Q9NWW7	CB042_HUMAN	Homo sapiens chromosome 2 open reading frame 42 (C2orf42), mRNA.	41										endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	12						GTTCTTACAGCTCAGTCCCCG	0.488000														64			8		0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76548828	76548828	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:76548828A>G	uc010dhp.2	-	14	2363	c.2238T>C	c.(2236-2238)atT>atC	p.I746I	DNAH17_uc002jvv.2_Silent_p.I448I	NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			ACTTGACATCAATTGCTTCCA	0.423000														183			16		0	0	1	0	0
SH3GLB1	51100	broad.mit.edu	37	1	87207962	87207962	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:87207962C>T	uc001dly.3	+	8	1250	c.920C>T	c.(919-921)gCg>gTg	p.A307V	SH3GLB1_uc001dlw.3_Missense_Mutation_p.A278V|SH3GLB1_uc001dlz.3_Missense_Mutation_p.A178V|SH3GLB1_uc001dlx.3_Missense_Mutation_p.A299V	NM_001206651	NP_001193580	Q9Y371	SHLB1_HUMAN	Homo sapiens SH3-domain GRB2-like endophilin B1 (SH3GLB1), transcript variant 2, mRNA.	278	SH3.				anti-apoptosis|filopodium assembly|signal transduction	Golgi membrane|mitochondrial outer membrane	SH3 domain binding|cytoskeletal adaptor activity|protein homodimerization activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|stomach(1)	11		Lung NSC(277;0.209)		all cancers(265;0.0136)|Epithelial(280;0.0414)		TTACCAAATGCGATTGGTTCT	0.428000														83			29		0	0	1	0	0
HIBADH	11112	broad.mit.edu	37	7	27565877	27565877	+	Missense_Mutation	SNP	A	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:27565877A>T	uc003szf.3	-	7	1180	c.967T>A	c.(967-969)Ttc>Atc	p.F323I	HIBADH_uc003szg.3_Missense_Mutation_p.F274I	NM_152740	NP_689953	P31937	3HIDH_HUMAN	Homo sapiens 3-hydroxyisobutyrate dehydrogenase (HIBADH), mRNA.	323					branched chain family amino acid catabolic process|pentose-phosphate shunt|valine metabolic process	mitochondrial matrix	3-hydroxyisobutyrate dehydrogenase activity|NAD binding|phosphogluconate dehydrogenase (decarboxylating) activity			endometrium(4)|kidney(2)|lung(3)|ovary(2)|prostate(1)	12			GBM - Glioblastoma multiforme(3;0.0368)		NADH(DB00157)	ACGGATGAGAAGTCTTTCTTT	0.517000														38			4		0	0	1	0	0
CDH23	64072	broad.mit.edu	37	10	73563013	73563013	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:73563013C>A	uc001jrx.4	+	52	8089	c.7699C>A	c.(7699-7701)Cca>Aca	p.P2567T	CDH23_uc001jsg.4_Missense_Mutation_p.P330T|CDH23_uc001jsh.4_Missense_Mutation_p.P330T|CDH23_uc001jsi.4_Missense_Mutation_p.P330T	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA.	2570	Cadherin 24.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CACACAGCGGCCACTGCAGTC	0.607000														8			7		0.00307968	0.00322291	1	1	0
GUSB	2990	broad.mit.edu	37	7	65432799	65432799	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:65432799C>A	uc003tun.3	-	9	1703	c.1572G>T	c.(1570-1572)caG>caT	p.Q524H	GUSB_uc011kdt.2_Missense_Mutation_p.Q378H	NM_000181	NP_000172	P08236	BGLR_HUMAN	Homo sapiens glucuronidase, beta (GUSB), mRNA.	524					glycosaminoglycan catabolic process	lysosome	beta-glucuronidase activity|cation binding	p.Q524L(1)		breast(1)|cervix(2)|kidney(2)|large_intestine(4)|lung(10)|skin(1)	20						AGTTCTCAAACTGGGTGGCCA	0.483000														76			22		1.9806e-07	2.28575e-07	1	1	0
POLE	5426	broad.mit.edu	37	12	133253151	133253151	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:133253151G>T	uc001uks.1	-	8	934	c.890C>A	c.(889-891)tCc>tAc	p.S297Y	POLE_uc010tbq.1_Non-coding_Transcript|POLE_uc009zyu.1_Missense_Mutation_p.S270Y	NM_006231	NP_006222	Q07864	DPOE1_HUMAN	Homo sapiens polymerase (DNA directed), epsilon (POLE), mRNA.	297					DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity|chromatin binding|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		GATCATGTAGGAAATCATCAT	0.527000								DNA polymerases (catalytic subunits)						20			6		0.27861	0.27975	1	1	0
PSKH1	5681	broad.mit.edu	37	16	67943504	67943504	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:67943504C>T	uc002euv.3	+	1	1022	c.852C>T	c.(850-852)ggC>ggT	p.G284G	PSKH1_uc010cet.2_Silent_p.G284G	NM_006742	NP_006733	P11801	KPSH1_HUMAN	Homo sapiens protein serine kinase H1 (PSKH1), mRNA.	284	Protein kinase.					Golgi apparatus|endoplasmic reticulum membrane|microtubule organizing center|nuclear speck|plasma membrane	ATP binding|protein serine/threonine kinase activity	p.L283R(1)		breast(1)|endometrium(2)|large_intestine(1)|lung(7)|pancreas(1)	12		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0044)|Epithelial(162;0.0197)|all cancers(182;0.128)		GGGCGCTGGGCGTCATTGCCT	0.567000														24			26		0	0	1	0	0
WDFY1	57590	broad.mit.edu	37	2	224743434	224743434	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:224743434G>A	uc002vnq.3	-	11	1238	c.1187C>T	c.(1186-1188)aCa>aTa	p.T396I		NM_020830	NP_065881	Q8IWB7	WDFY1_HUMAN	Homo sapiens WD repeat and FYVE domain containing 1 (WDFY1), mRNA.	396						cytosol|early endosome|nucleus	1-phosphatidylinositol binding|zinc ion binding			NS(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)	18		all_lung(227;0.00682)|Lung NSC(271;0.00859)|Renal(207;0.0112)|all_hematologic(139;0.189)		Epithelial(121;5.34e-10)|all cancers(144;1.67e-07)|Lung(261;0.00807)|LUSC - Lung squamous cell carcinoma(224;0.00843)		CACCACAGGTGTCATGTCCCA	0.517000														13			8		0	0	1	0	0
RNF185	91445	broad.mit.edu	37	22	31583084	31583084	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:31583084G>A	uc003akb.3	+	1	204	c.4G>A	c.(4-6)Gca>Aca	p.A2T	RNF185_uc010gwh.3_Non-coding_Transcript|RNF185_uc011alm.2_5'UTR|RNF185_uc003akc.3_5'UTR|RNF185_uc003ake.3_Missense_Mutation_p.A2T	NM_152267	NP_689480	Q96GF1	RN185_HUMAN	Homo sapiens ring finger protein 185 (RNF185), transcript variant 1, mRNA.	2						integral to membrane	zinc ion binding			NS(1)|large_intestine(1)|lung(3)|skin(1)	6						GCCAAGGATGGCAAGCAAGGG	0.607000														67			38		0	0	1	0	0
PLA2G6	8398	broad.mit.edu	37	22	38539144	38539144	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:38539144C>T	uc003auy.1	-	3	713	c.577G>A	c.(577-579)Gct>Act	p.A193T	PLA2G6_uc003auz.1_Missense_Mutation_p.A193T|PLA2G6_uc003ava.1_Missense_Mutation_p.A193T|PLA2G6_uc003avb.2_Missense_Mutation_p.A193T|PLA2G6_uc010gxk.1_Non-coding_Transcript|PLA2G6_uc011ano.1_Missense_Mutation_p.M220I	NM_003560	NP_003551	O60733	PA2G6_HUMAN	Homo sapiens phospholipase A2, group VI (cytosolic, calcium-independent) (PLA2G6), transcript variant 1, mRNA.	193					cardiolipin biosynthetic process|cell death|lipid catabolic process	centrosome|membrane				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24	Melanoma(58;0.045)				Quinacrine(DB01103)	CCCTGGACAGCATAATGGAAG	0.597000														192			117		0	0	1	0	0
ZNF331	55422	broad.mit.edu	37	19	54081145	54081145	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:54081145G>A	uc002qbx.1	+	6	2765	c.1331G>A	c.(1330-1332)tGc>tAc	p.C444Y	ZNF331_uc002qby.1_Missense_Mutation_p.C444Y|ZNF331_uc002qbz.1_Missense_Mutation_p.C444Y|ZNF331_uc010eqr.1_Missense_Mutation_p.C444Y|ZNF331_uc002qca.1_Missense_Mutation_p.C444Y|ZNF331_uc021uzg.1_Missense_Mutation_p.C444Y|ZNF331_uc021uzh.1_Missense_Mutation_p.C444Y|ZNF331_uc002qcb.1_Missense_Mutation_p.C444Y|ZNF331_uc002qcc.1_Missense_Mutation_p.C444Y|ZNF331_uc002qcd.1_Missense_Mutation_p.C444Y	NM_018555	NP_061025	Q9NQX6	ZN331_HUMAN	Homo sapiens zinc finger protein 331 (ZNF331), transcript variant 1, mRNA.	444					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10				GBM - Glioblastoma multiforme(134;0.00555)		TGTAAGGAGTGCGGGAAGGCA	0.488000			T	?	follicular thyroid adenoma									15			13		0	0	1	0	0
KDM3B	51780	broad.mit.edu	37	5	137717216	137717216	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:137717216C>T	uc003lcy.1	+	5	917	c.717C>T	c.(715-717)atC>atT	p.I239I	KDM3B_uc010jew.1_5'UTR	NM_016604	NP_057688	Q7LBC6	KDM3B_HUMAN	Homo sapiens lysine (K)-specific demethylase 3B (KDM3B), mRNA.	239					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.E238E(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						GTGGTGAGATCAAGTCGGTAG	0.383000														52			20		0	0	1	0	0
CRKL	1399	broad.mit.edu	37	22	21304088	21304088	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:21304088G>A	uc002ztf.2	+	2	1376	c.867G>A	c.(865-867)acG>acA	p.T289T	CRKL_uc021wly.1_5'Flank	NM_005207	NP_005198	P46109	CRKL_HUMAN	Homo sapiens v-crk sarcoma virus CT10 oncogene homolog (avian)-like (CRKL), mRNA.	289	SH3 2.				JNK cascade|Ras protein signal transduction	cytosol	SH3/SH2 adaptor activity|protein tyrosine kinase activity|signal transducer activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)	14	all_cancers(11;1.16e-25)|all_epithelial(7;3.37e-24)|Lung NSC(8;7.25e-16)|all_lung(8;1.37e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.176)			TCCCCTTTACGCACGTCAAAA	0.478000														224			11		0	0	1	0	0
CES1	1066	broad.mit.edu	37	16	55860116	55860116	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:55860116G>A	uc002eim.3	-	2	457	c.349C>T	c.(349-351)Ctt>Ttt	p.L117F	CES1_uc002eil.3_Missense_Mutation_p.L118F|CES1_uc002ein.3_Missense_Mutation_p.L117F	NM_001025194	NP_001020365	P23141	EST1_HUMAN	Homo sapiens carboxylesterase 1 (CES1), transcript variant 2, mRNA.	117					response to toxin	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity								all cancers(182;0.13)|Epithelial(162;0.137)	Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691)	TTGAGGTAAAGACAGTCTTCA	0.517000														165			84		0	0	1	0	0
KDR	3791	broad.mit.edu	37	4	55976632	55976632	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:55976632A>G	uc003has.3	-	8	1495	c.1193T>C	c.(1192-1194)gTc>gCc	p.V398A	KDR_uc003hat.1_Missense_Mutation_p.V398A|KDR_uc011bzx.2_Missense_Mutation_p.V398A	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Homo sapiens kinase insert domain receptor (a type III receptor tyrosine kinase) (KDR), mRNA.	398	Ig-like C2-type 4.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|Hsp90 protein binding|growth factor binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	p.V398A(2)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	GGTAAGGATGACAGTGTAATT	0.418000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)				53			30		0	0	1	0	0
RIOK3	8780	broad.mit.edu	37	18	21054957	21054957	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:21054957G>A	uc002kui.4	+	8	1676	c.1059G>A	c.(1057-1059)aaG>aaA	p.K353K	RIOK3_uc010dls.3_Silent_p.K353K|RIOK3_uc010xas.2_Silent_p.K337K|RIOK3_uc010xat.2_Silent_p.K97K	NM_003831	NP_003822	O14730	RIOK3_HUMAN	Homo sapiens RIO kinase 3 (yeast) (RIOK3), mRNA.	353	Protein kinase.				chromosome segregation		ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(2)	10	all_cancers(21;0.000106)|all_epithelial(16;6.74e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0202)|Ovarian(20;0.127)					TACTACTGAAGAAACACATTT	0.343000														65			4		0	0	1	0	0
NMUR1	10316	broad.mit.edu	37	2	232393708	232393708	+	Nonsense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:232393708G>T	uc002vry.4	-	1	134	c.24C>A	c.(22-24)tgC>tgA	p.C8*		NM_006056	NP_006047	Q9HB89	NMUR1_HUMAN	Homo sapiens neuromedin U receptor 1 (NMUR1), mRNA.	8					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|calcium ion transport|calcium-mediated signaling|chloride transport|smooth muscle contraction	integral to plasma membrane|membrane fraction	neuromedin U receptor activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(12)|pancreas(1)|skin(1)	24		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;8.37e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		GGAGGACAGAGCAATTGAGGC	0.572000														13			4		0.000602214	0.000641151	1	1	0
OBSCN	84033	broad.mit.edu	37	1	228506846	228506846	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:228506846C>T	uc009xez.1	+	53	14437	c.14393C>T	c.(14392-14394)gCt>gTt	p.A4798V	OBSCN_uc001hsn.3_Missense_Mutation_p.A4798V	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	4798					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	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase 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)				ACTGGAGATGCTGACCTCTCA	0.647000														15			11		0	0	1	0	0
STARD13	90627	broad.mit.edu	37	13	33703428	33703428	+	Silent	SNP	G	A	A	rs35350154		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:33703428G>A	uc001uuw.3	-	4	1512	c.1386C>T	c.(1384-1386)gtC>gtT	p.V462V	STARD13_uc001uuu.3_Silent_p.V454V|STARD13_uc001uuv.3_Silent_p.V344V|STARD13_uc001uux.3_Silent_p.V427V|STARD13_uc010abh.1_Silent_p.V447V|STARD13_uc021rhz.1_Silent_p.V454V|STARD13_uc021ria.1_Silent_p.V344V	NM_178006	NP_443083	Q9Y3M8	STA13_HUMAN	Homo sapiens StAR-related lipid transfer (START) domain containing 13 (STARD13), transcript variant 1, mRNA.	462					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		GGGAGCCAGGGACATTGTCAT	0.562000														41			20		0	0	1	0	0
KIAA1199	57214	broad.mit.edu	37	15	81234672	81234672	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:81234672C>T	uc002bfw.1	+	25	3953	c.3693C>T	c.(3691-3693)taC>taT	p.Y1231Y	KIAA1199_uc010unn.1_Silent_p.Y1231Y	NM_018689	NP_061159	Q8WUJ3	K1199_HUMAN	Homo sapiens KIAA1199 (KIAA1199), mRNA.	1231										breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						ACTTCGCTTACATTGAAGTAA	0.493000														50			26		0	0	1	0	0
HIF1AN	55662	broad.mit.edu	37	10	102306288	102306288	+	Nonsense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:102306288G>T	uc001krj.4	+	5	919	c.844G>T	c.(844-846)Gag>Tag	p.E282*		NM_017902	NP_060372	Q9NWT6	HIF1N_HUMAN	Homo sapiens hypoxia inducible factor 1, alpha subunit inhibitor (HIF1AN), mRNA.	282	Interaction with HIF1A.|Interaction with VHL.|JmjC.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|protein binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(1)|prostate(2)|urinary_tract(1)	10		Colorectal(252;0.234)		Epithelial(162;6.75e-10)|all cancers(201;4.88e-08)		GCATCACATAGAGTCATTACT	0.488000														123			9		0.000442599	0.000473562	1	1	0
MUC5B	727897	broad.mit.edu	37	11	1275507	1275507	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:1275507G>A	uc001lta.3	+	33	15462	c.15403G>A	c.(15403-15405)Gcc>Acc	p.A5135T		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	5135	VWFD 4.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CTGCCCCCGCGCCCTCAGCAT	0.622000														21			23		0	0	1	0	0
CD28	940	broad.mit.edu	37	2	204599533	204599533	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:204599533G>A	uc002vah.4	+	3	783	c.561G>A	c.(559-561)ctG>ctA	p.L187L	CD28_uc010zio.2_Silent_p.L90L|CD28_uc010ftx.3_Silent_p.L68L|CD28_uc002vaj.4_Non-coding_Transcript	NM_006139	NP_006130	P10747	CD28_HUMAN	Homo sapiens CD28 molecule (CD28), transcript variant 1, mRNA.	187					T cell costimulation|cell surface receptor linked signaling pathway|cytokine biosynthetic process|humoral immune response|positive regulation of anti-apoptosis|positive regulation of interleukin-2 biosynthetic process|positive regulation of mitosis|positive regulation of translation|positive regulation of viral genome replication|regulation of defense response to virus by virus|regulatory T cell differentiation|viral reproduction	cytosol|external side of plasma membrane|integral to plasma membrane	SH3/SH2 adaptor activity|coreceptor activity|protease binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13						GCAGGCTCCTGCACAGTGACT	0.567000														54			28		0	0	1	0	0
FBXO5	26271	broad.mit.edu	37	6	153292398	153292398	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:153292398G>T	uc003qpg.3	-	4	1353	c.1244C>A	c.(1243-1245)aCt>aAt	p.T415N	FBXO5_uc003qph.3_Missense_Mutation_p.T369N	NM_012177	NP_001135994	Q9UKT4	FBX5_HUMAN	Homo sapiens F-box protein 5 (FBXO5), transcript variant 1, mRNA.	415					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol|nucleoplasm|spindle	metal ion binding|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)	15		Ovarian(120;0.125)		OV - Ovarian serous cystadenocarcinoma(155;4.38e-10)|BRCA - Breast invasive adenocarcinoma(81;0.0893)		GTCTTTAGTAGTATGATAATT	0.388000														40			21		7.87624e-14	9.83087e-14	1	1	0
ARPP21	10777	broad.mit.edu	37	3	35770971	35770971	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:35770971C>T	uc011axy.2	+	12	1512	c.1300C>T	c.(1300-1302)Cca>Tca	p.P434S	ARPP21_uc003cga.3_Missense_Mutation_p.P414S|ARPP21_uc003cgb.3_Missense_Mutation_p.P468S|ARPP21_uc003cgf.3_Missense_Mutation_p.P269S|ARPP21_uc003cgg.3_5'UTR	NM_016300	NP_057384	Q9UBL0	ARP21_HUMAN	Homo sapiens cAMP-regulated phosphoprotein, 21kDa (ARPP21), transcript variant 1, mRNA.	468						cytoplasm	nucleic acid binding	p.P433P(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						CATCCTCCTTCCACTTGAAGC	0.537000														43			6		0	0	1	0	0
MED4	29079	broad.mit.edu	37	13	48653989	48653989	+	Silent	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:48653989T>G	uc001vby.1	-	5	657	c.631A>C	c.(631-633)Aga>Cga	p.R211R	MED4_uc010tgf.1_Silent_p.R165R	NM_014166	NP_054885	Q9NPJ6	MED4_HUMAN	Homo sapiens mediator complex subunit 4 (MED4), mRNA.	211					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)	8		all_cancers(8;2.93e-25)|all_epithelial(8;4.38e-13)|all_lung(13;7.37e-06)|all_hematologic(8;8.61e-05)|Breast(56;0.000141)|Lung NSC(96;0.000518)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.00559)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;5.18e-07)		CCTGGCAATCTTCCTGCTGCA	0.438000														67			4		0	0	1	0	0
NLRP1	22861	broad.mit.edu	37	17	5487182	5487182	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:5487182C>T	uc002gci.3	-	0	651	c.96G>A	c.(94-96)gcG>gcA	p.A32A	NLRP1_uc002gcg.1_Silent_p.A32A|NLRP1_uc002gch.4_Silent_p.A32A|NLRP1_uc002gck.3_Silent_p.A32A|NLRP1_uc002gcj.3_Silent_p.A32A|NLRP1_uc002gcl.3_Silent_p.A32A|NLRP1_uc010clh.3_Silent_p.A32A	NM_033004	NP_127497	Q9C000	NALP1_HUMAN	Homo sapiens NLR family, pyrin domain containing 1 (NLRP1), transcript variant 1, mRNA.	32	DAPIN.				defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	NALP1 inflammasome complex|cytoplasm|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				TCCTGGAGTGCGCTTTATTGG	0.617000														7			9		0	0	1	0	0
NOC2L	26155	broad.mit.edu	37	1	892506	892506	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:892506C>T	uc009vjq.3	-	2	386	c.327G>A	c.(325-327)ccG>ccA	p.P109P	NOC2L_uc001aby.4_5'UTR|NOC2L_uc001abz.4_Silent_p.P109P	NM_015658	NP_056473	Q9Y3T9	NOC2L_HUMAN	Homo sapiens nucleolar complex associated 2 homolog (S. cerevisiae) (NOC2L), mRNA.	109						nucleolus	protein binding	p.G108R(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	16	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		GGGAGTGGAACGGCCCCTCTT	0.577000														81			58		0	0	1	0	0
SPTBN1	6711	broad.mit.edu	37	2	54849603	54849603	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:54849603G>A	uc002rxu.3	+	8	1292	c.1043G>A	c.(1042-1044)cGc>cAc	p.R348H	SPTBN1_uc002rxv.1_Missense_Mutation_p.R348H|SPTBN1_uc002rxx.3_Missense_Mutation_p.R335H	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 1 (SPTBN1), transcript variant 1, mRNA.	348					actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton	p.R348R(1)		NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			AACACTTACCGCACTGTGGAG	0.423000														59			29		0	0	1	0	0
LRP4	4038	broad.mit.edu	37	11	46921489	46921489	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:46921489T>G	uc001ndn.4	-	3	598	c.355A>C	c.(355-357)Aat>Cat	p.N119H	LRP4_uc009ylh.2_Missense_Mutation_p.N70H	NM_002334	NP_002325	O75096	LRP4_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 4 (LRP4), mRNA.	119	LDL-receptor class A 3.				Wnt receptor signaling pathway|endocytosis|negative regulation of canonical Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		CAGTAGCCATTCTGGCAGGGA	0.632000														39			6		0	0	1	0	0
ITGA8	8516	broad.mit.edu	37	10	15726009	15726009	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:15726009G>A	uc001ioc.1	-	3	562	c.562C>T	c.(562-564)Cgg>Tgg	p.R188W	ITGA8_uc010qcb.1_Missense_Mutation_p.R188W	NM_003638	NP_003629	P53708	ITA8_HUMAN	Homo sapiens integrin, alpha 8 (ITGA8), mRNA.	188				R -> G (in Ref. 5; AAA93514).	cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						TTACTGTTCCGGCAAGGAGAG	0.453000														47			27		0	0	1	0	0
CHML	1122	broad.mit.edu	37	1	241797251	241797251	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:241797251G>T	uc001hzd.3	-	0	1982	c.1818C>A	c.(1816-1818)ttC>ttA	p.F606L	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.	606					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)			GTGGAGGGCAGAATTCTTCAG	0.453000														104			20		1.50039e-11	1.83529e-11	1	1	0
OR5K1	26339	broad.mit.edu	37	3	98188949	98188949	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:98188949T>G	uc003dsm.3	+	0	529	c.529T>G	c.(529-531)Ttt>Gtt	p.F177V		NM_001004736	NP_001004736	Q8NHB7	OR5K1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily K, member 1 (OR5K1), mRNA.	177					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CATCAACCACTTTTACTGTGA	0.398000														208			16		0	0	1	0	0
ANKRD5	63926	broad.mit.edu	37	20	10030593	10030593	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:10030593A>G	uc002wno.3	+	6	1769	c.1376A>G	c.(1375-1377)tAc>tGc	p.Y459C	LOC100131208_uc002wnn.2_Intron|ANKRD5_uc002wnp.3_Missense_Mutation_p.Y459C|ANKRD5_uc010gbz.3_Missense_Mutation_p.Y270C	NM_022096	NP_942093	Q9NU02	ANKR5_HUMAN	Homo sapiens ankyrin repeat domain 5 (ANKRD5), transcript variant 1, mRNA.	459							calcium ion binding	p.Y459C(4)		breast(2)|endometrium(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	37						ATTGAGACCTACAAGAATGTC	0.463000														55			29		0	0	1	0	0
HGS	9146	broad.mit.edu	37	17	79667739	79667739	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:79667739G>T	uc002kbg.3	+	19	2166	c.2031G>T	c.(2029-2031)caG>caT	p.Q677H	SLC25A10_uc002kbh.2_5'Flank|SLC25A10_uc010wut.2_5'Flank	NM_004712	NP_004703	O14964	HGS_HUMAN	Homo sapiens hepatocyte growth factor-regulated tyrosine kinase substrate (HGS), mRNA.	677	Gln-rich.|Interaction with NF2.				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of JAK-STAT cascade|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|regulation of protein catabolic process	cytosol|early endosome membrane|multivesicular body membrane	metal ion binding|protein domain specific binding			endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)			TGGCCTCCCAGGCCCCACAGA	0.667000														36			4		0.150653	0.152248	1	1	0
PRRC2A	7916	broad.mit.edu	37	6	31605083	31605083	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31605083C>T	uc003nvb.4	+	29	6564	c.6315C>T	c.(6313-6315)cgC>cgT	p.R2105R	PRRC2A_uc003nvc.4_Silent_p.R2105R	NM_080686	NP_542417	P48634	PRC2A_HUMAN	Homo sapiens proline-rich coiled-coil 2A (PRRC2A), transcript variant 1, mRNA.	2105	3 X 50 AA type C repeats.					cytoplasm|nucleus	protein binding			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						GCACCCAGCGCGTCGACCTTT	0.562000														46			8		0	0	1	0	0
PTK2	5747	broad.mit.edu	37	8	141889570	141889570	+	Splice_Site	SNP	T	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:141889570T>A	uc003yvu.3	-	4	672	c.362_splice	c.e4+1	p.K121_splice	PTK2_uc003yvr.3_Splice_Site_p.K20_splice|PTK2_uc003yvs.3_Splice_Site_p.K121_splice|PTK2_uc011ljr.2_Splice_Site_p.K121_splice|PTK2_uc003yvt.3_Splice_Site_p.K143_splice|PTK2_uc003yvv.3_Intron	NM_153831	NP_722560	Q05397	FAK1_HUMAN	Homo sapiens PTK2 protein tyrosine kinase 2 (PTK2), transcript variant 1, mRNA.	121	FERM.				axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|SH2 domain binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			TGTATCTTACTTCCACTCCTC	0.438000														96			62		0	0	1	0	0
WNK4	65266	broad.mit.edu	37	17	40947503	40947503	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:40947503C>A	uc002ibj.3	+	14	3054	c.2986C>A	c.(2986-2988)Ctc>Atc	p.L996I	WNK4_uc010wgx.2_Missense_Mutation_p.L660I|CCDC56_uc010wgz.1_3'UTR	NM_032387	NP_115763	Q96J92	WNK4_HUMAN	Homo sapiens WNK lysine deficient protein kinase 4 (WNK4), mRNA.	996					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		TGCTCGGCCCCTCCCAGGGGA	0.582000														100			8		5.18039e-06	5.80246e-06	1	1	0
MLL	4297	broad.mit.edu	37	11	118376263	118376263	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:118376263C>A	uc001pta.3	+	26	9670	c.9647C>A	c.(9646-9648)tCt>tAt	p.S3216Y	MLL_uc001ptb.3_Missense_Mutation_p.S3219Y	NM_005933	NP_005924	Q03164	MLL1_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) (MLL), transcript variant 2, mRNA.	3216					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			breast(5)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(29)|lung(34)|ovary(6)|pancreas(3)|prostate(8)|skin(6)|urinary_tract(19)	131	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		ACTCCATCCTCTGGACTCAAG	0.498000			"""T, O"""	"""MLL, MLLT1, MLLT2, MLLT3, MLLT4, MLLT7, MLLT10, MLLT6, ELL, EPS15, AF1Q, CREBBP, SH3GL1, FNBP1, PNUTL1, MSF, GPHN, GMPS, SSH3BP1, ARHGEF12, GAS7, FOXO3A, LAF4, LCX, SEPT6, LPP, CBFA2T1, GRAF, EP300, PICALM, HEAB"""	"""AML, ALL"""									35			37		9.58827e-17	1.2171e-16	1	1	0
LRRC46	90506	broad.mit.edu	37	17	45914418	45914418	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:45914418G>A	uc002ima.3	+	7	1261	c.898G>A	c.(898-900)Gcc>Acc	p.A300T	LRRC46_uc002imb.3_Missense_Mutation_p.A253T	NM_033413	NP_219481	Q96FV0	LRC46_HUMAN	Homo sapiens leucine rich repeat containing 46 (LRRC46), mRNA.	300										endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)	9						AGCAGCCACAGCCCCCAAGGC	0.572000														63			42		0	0	1	0	0
MTOR	2475	broad.mit.edu	37	1	11205086	11205086	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:11205086C>A	uc001asd.3	-	32	4824	c.4703G>T	c.(4702-4704)aGg>aTg	p.R1568M		NM_004958	NP_004949	P42345	MTOR_HUMAN	Homo sapiens mechanistic target of rapamycin (serine/threonine kinase) (MTOR), mRNA.	1568	FAT.				T cell costimulation|TOR signaling cascade|cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient	Golgi membrane|PML body|TORC1 complex|TORC2 complex|endoplasmic reticulum membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						CAGCAGGTCCCTGGCCTTGTC	0.488000														58			28		6.38683e-12	7.84313e-12	1	1	0
PSAPL1	768239	broad.mit.edu	37	4	7436108	7436108	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:7436108C>T	uc011bwj.2	-	0	593	c.499G>A	c.(499-501)Gcc>Acc	p.A167T	SORCS2_uc003gkb.4_Intron|SORCS2_uc011bwi.2_Intron	NM_001085382	NP_001078851	Q6NUJ1	SAPL1_HUMAN	Homo sapiens prosaposin-like 1 (gene/pseudogene) (PSAPL1), mRNA.	167					sphingolipid metabolic process	extracellular region|lysosome				lung(4)	4						GGCCCATTGGCCATGAACGGA	0.647000														6			5		0	0	1	0	0
PSPC1	55269	broad.mit.edu	37	13	20315777	20315777	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:20315777C>T	uc021rgx.1	-	5	1117	c.980G>A	c.(979-981)cGt>cAt	p.R327H		NM_001042414	NP_001035879	Q8WXF1	PSPC1_HUMAN	Homo sapiens paraspeckle component 1 (PSPC1), transcript variant 1, mRNA.	327	Sufficient for paraspeckles localization.|Sufficient for perinucleolar caps localization and interaction with NONO.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear matrix|nucleolus	RNA binding|nucleotide binding|protein binding			breast(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23		all_cancers(29;1.25e-22)|all_lung(29;1.97e-20)|all_epithelial(30;2.29e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;4.63e-06)|Epithelial(112;2.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00256)|Lung(94;0.00975)|LUSC - Lung squamous cell carcinoma(192;0.0483)		TTCTTCTTGACGCCTCATTAG	0.333000														44			40		0	0	1	0	0
NFATC4	4776	broad.mit.edu	37	14	24842950	24842950	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:24842950C>T	uc001wpc.3	+	4	1930	c.1609C>T	c.(1609-1611)Cgg>Tgg	p.R537W	NFATC4_uc010alr.3_Missense_Mutation_p.R600W|NFATC4_uc010tok.2_Missense_Mutation_p.R600W|NFATC4_uc010tol.2_Missense_Mutation_p.R600W|NFATC4_uc010als.2_Missense_Mutation_p.R550W|NFATC4_uc010too.2_Missense_Mutation_p.R550W|NFATC4_uc010tom.2_Missense_Mutation_p.R550W|NFATC4_uc010ton.2_Missense_Mutation_p.R550W|NFATC4_uc010toq.2_Missense_Mutation_p.R569W|NFATC4_uc010alt.3_Missense_Mutation_p.R569W|NFATC4_uc010top.2_Missense_Mutation_p.R569W|NFATC4_uc010alu.3_Missense_Mutation_p.R229W|NFATC4_uc010tor.2_Missense_Mutation_p.R537W|NFATC4_uc010tos.2_Missense_Mutation_p.R467W|NFATC4_uc010tot.2_Missense_Mutation_p.R525W|NFATC4_uc010tou.2_Missense_Mutation_p.R467W|NFATC4_uc010tov.2_Missense_Mutation_p.R525W|NFATC4_uc010tow.2_Missense_Mutation_p.R467W|NFATC4_uc010alv.3_Missense_Mutation_p.R525W|NFATC4_uc010tox.2_Missense_Mutation_p.R467W|NFATC4_uc001wpd.3_Missense_Mutation_p.R72W|NFATC4_uc010toy.2_Missense_Mutation_p.R72W|NFATC4_uc010toz.2_Missense_Mutation_p.R72W|NFATC4_uc010tpa.2_5'UTR|NFATC4_uc010tpb.2_5'UTR	NM_004554	NP_001185895	Q14934	NFAC4_HUMAN	Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4 (NFATC4), transcript variant 2, mRNA.	537	RHD.				cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	p.R537R(2)|p.R537Q(1)|p.R600R(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		CATTGAGCTTCGGAAGGGTGA	0.582000														55			39		0	0	1	0	0
FAM123B	139285	broad.mit.edu	37	X	63412964	63412964	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:63412964G>T	uc022byb.1	-	0	203	c.203C>A	c.(202-204)aCt>aAt	p.T68N	FAM123B_uc004dvo.3_Missense_Mutation_p.T68N	NM_152424	NP_689637	Q5JTC6	F123B_HUMAN	Homo sapiens family with sequence similarity 123B (FAM123B), mRNA.	68					Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane		p.0?(67)		NS(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(132)|large_intestine(35)|liver(1)|lung(33)|ovary(5)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	225						ACTAGGCAGAGTACAGATACC	0.537000														54			5		0.00307968	0.00322291	1	1	0
MCM10	55388	broad.mit.edu	37	10	13228229	13228229	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:13228229C>A	uc001ima.3	+	8	1295	c.1167C>A	c.(1165-1167)acC>acA	p.T389T	MCM10_uc001imb.3_Silent_p.T388T|MCM10_uc001imc.3_Silent_p.T388T	NM_182751	NP_877428	Q7L590	MCM10_HUMAN	Homo sapiens minichromosome maintenance complex component 10 (MCM10), transcript variant 1, mRNA.	389					DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|cell cycle checkpoint	nucleoplasm	metal ion binding|protein binding			central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						ACCTGGGAACCTGTAAAGCCA	0.448000														126			11		1.08611e-07	1.25606e-07	1	1	0
EPG5	57724	broad.mit.edu	37	18	43481006	43481006	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:43481006G>A	uc002lbm.3	-	25	4701	c.4601C>T	c.(4600-4602)aCc>aTc	p.T1534I	EPG5_uc010xcr.1_Non-coding_Transcript|EPG5_uc010xcs.1_Non-coding_Transcript|EPG5_uc010xcq.1_Missense_Mutation_p.T88I|EPG5_uc002lbn.2_Missense_Mutation_p.T409I	NM_020964	NP_066015	Q9HCE0	EPG5_HUMAN	Homo sapiens ectopic P-granules autophagy protein 5 homolog (C. elegans) (EPG5), mRNA.	1534					autophagy					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						CACCAGCTGGGTGGCGTCCTT	0.572000														33			28		0	0	1	0	0
NDRG3	57446	broad.mit.edu	37	20	35335406	35335406	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:35335406C>T	uc002xfw.3	-	2	204	c.62G>A	c.(61-63)gGt>gAt	p.G21D	NDRG3_uc002xfx.3_Intron|NDRG3_uc010zvq.2_Missense_Mutation_p.V2I|NDRG3_uc010zvr.2_Intron	NM_032013	NP_114402	Q9UGV2	NDRG3_HUMAN	Homo sapiens NDRG family member 3 (NDRG3), transcript variant 1, mRNA.	21					cell differentiation|negative regulation of cell growth|spermatogenesis	cytoplasm				endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12		Myeloproliferative disorder(115;0.00878)				GTTTCTTGTACCATTCTGTCA	0.478000														57			6		0	0	1	0	0
C1orf112	55732	broad.mit.edu	37	1	169806110	169806110	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:169806110C>A	uc001ggq.3	+	16	2282	c.1582C>A	c.(1582-1584)Ctg>Atg	p.L528M	C1orf112_uc001ggj.3_Non-coding_Transcript|C1orf112_uc001ggp.3_Missense_Mutation_p.L528M|C1orf112_uc009wvt.3_Missense_Mutation_p.L205M|C1orf112_uc009wvu.1_Missense_Mutation_p.L404M|C1orf112_uc001ggr.3_Missense_Mutation_p.L393M|C1orf112_uc010plv.2_Missense_Mutation_p.L470M	NM_018186	NP_060656	Q9NSG2	CA112_HUMAN	Homo sapiens chromosome 1 open reading frame 112 (C1orf112), mRNA.	528										breast(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|stomach(1)	34	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AGCAGAAAATCTGCCTCTGTG	0.428000														63			14		0.00185496	0.0019572	1	1	0
ASNSD1	54529	broad.mit.edu	37	2	190531984	190531984	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:190531984A>G	uc002uqt.3	+	3	1560	c.1126A>G	c.(1126-1128)Aat>Gat	p.N376D		NM_019048	NP_061921	Q9NWL6	ASND1_HUMAN	Homo sapiens asparagine synthetase domain containing 1 (ASNSD1), mRNA.	376	Asparagine synthetase.				asparagine biosynthetic process|glutamine metabolic process		asparagine synthase (glutamine-hydrolyzing) activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(3)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118)			TAAACAGAAAAATAAATGTGA	0.368000														35			18		0	0	1	0	0
GNPTAB	79158	broad.mit.edu	37	12	102158832	102158832	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:102158832G>A	uc001tit.3	-	12	2055	c.1863C>T	c.(1861-1863)aaC>aaT	p.N621N		NM_024312	NP_077288	Q3T906	GNPTA_HUMAN	Homo sapiens N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits (GNPTAB), mRNA.	621					cell differentiation	Golgi membrane|integral to membrane|nucleus	UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity|metal ion binding|transcription factor binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						ACTCTTCATCGTTTGTATTTT	0.403000														68			50		0	0	1	0	0
PSMA4	5685	broad.mit.edu	37	15	78834894	78834894	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:78834894C>T	uc002bdu.4	+	3	274	c.116C>T	c.(115-117)gCa>gTa	p.A39V	PSMA4_uc010blf.3_Missense_Mutation_p.A39V|PSMA4_uc002bdv.4_Intron|PSMA4_uc002bdw.4_Missense_Mutation_p.A15V|PSMA4_uc002bdx.4_Intron	NM_002789	NP_001096138	P25789	PSA4_HUMAN	Homo sapiens proteasome (prosome, macropain) subunit, alpha type, 4 (PSMA4), transcript variant 1, mRNA.	39					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|interspecies interaction between organisms|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	identical protein binding|threonine-type endopeptidase activity			kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9						GGAATTTTAGCAAATGATGGT	0.393000														124			69		0	0	1	0	0
UBE3A	7337	broad.mit.edu	37	15	25616697	25616697	+	Silent	SNP	G	T	T	rs112484472		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:25616697G>T	uc001zaq.3	-	6	1393	c.633C>A	c.(631-633)tcC>tcA	p.S211S	SNRPN_uc001zae.3_Intron|UBE3A_uc001zar.3_Silent_p.S188S|UBE3A_uc001zas.3_Silent_p.S208S|UBE3A_uc001zat.3_Silent_p.S188S	NM_000462	NP_570853	Q05086	UBE3A_HUMAN	Homo sapiens ubiquitin protein ligase E3A (UBE3A), transcript variant 2, mRNA.	211					brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	38		all_cancers(20;3.47e-21)|Breast(32;0.00123)		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)		CTATCCTTGAGGAAGATGCTT	0.413000														212			23		6.44725e-10	7.73661e-10	1	1	0
SKIV2L	6499	broad.mit.edu	37	6	31937356	31937356	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31937356G>A	uc003nyn.1	+	27	3994	c.3605G>A	c.(3604-3606)cGc>cAc	p.R1202H	SKIV2L_uc011dou.1_Missense_Mutation_p.R1044H|SKIV2L_uc011dov.1_Missense_Mutation_p.R1009H|STK19_uc003nyt.3_5'Flank|STK19_uc011dow.2_5'Flank|STK19_uc011dox.1_5'Flank|STK19_uc003nyv.3_5'Flank|STK19_uc003nyw.3_5'Flank|STK19_uc010jtn.1_5'Flank	NM_006929	NP_008860	Q15477	SKIV2_HUMAN	Homo sapiens superkiller viralicidic activity 2-like (S. cerevisiae) (SKIV2L), mRNA.	1202						nucleus	ATP binding|ATP-dependent RNA helicase activity|RNA binding|protein binding			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						TGCATTCAGCGCCTGGCTGAG	0.652000														66			31		0	0	1	0	0
PAK3	5063	broad.mit.edu	37	X	110366334	110366334	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:110366334G>A	uc010npv.1	+	0	30	c.3G>A	c.(1-3)atG>atA	p.M1I	PAK3_uc010npt.1_Missense_Mutation_p.M1I|PAK3_uc010npu.1_Missense_Mutation_p.M1I|PAK3_uc004eoy.1_5'UTR|PAK3_uc004eoz.2_Missense_Mutation_p.M1I|PAK3_uc011mst.1_Non-coding_Transcript|PAK3_uc010npw.1_Missense_Mutation_p.M1I|PAK3_uc004epa.2_Missense_Mutation_p.M1I|AF070581_uc004epb.3_5'Flank	NM_001128168	NP_001121640	O75914	PAK3_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 3 (PAK3), transcript variant 4, mRNA.	1					multicellular organismal development		ATP binding|SH3 domain binding|metal ion binding|protein serine/threonine kinase activity			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						AACTGAAAATGTCTGACGGTC	0.428000										TSP Lung(19;0.15)				166			13		0	0	1	0	0
MEGF10	84466	broad.mit.edu	37	5	126674846	126674846	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:126674846C>A	uc003kuh.4	+	3	513	c.151C>A	c.(151-153)Ccc>Acc	p.P51T	MEGF10_uc010jdc.1_Missense_Mutation_p.P51T|MEGF10_uc010jdd.1_Missense_Mutation_p.P51T|MEGF10_uc003kui.4_Missense_Mutation_p.P51T	NM_032446	NP_115822	Q96KG7	MEG10_HUMAN	Homo sapiens multiple EGF-like-domains 10 (MEGF10), mRNA.	51	EMI.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		ATACCCACATCCCTTTGATCA	0.358000														93			11		2.68362e-12	3.30521e-12	1	1	0
SGK1	6446	broad.mit.edu	37	6	134493435	134493435	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:134493435T>C	uc003qen.4	-	7	771	c.682A>G	c.(682-684)Att>Gtt	p.I228V	SGK1_uc003qeo.4_Missense_Mutation_p.I323V|SGK1_uc011ect.2_Missense_Mutation_p.I218V|SGK1_uc011ecu.2_Missense_Mutation_p.I184V|SGK1_uc011ecv.2_Missense_Mutation_p.I242V|SGK1_uc011ecw.2_Missense_Mutation_p.I256V	NM_005627	NP_005618	O00141	SGK1_HUMAN	Homo sapiens serum/glucocorticoid regulated kinase 1 (SGK1), transcript variant 1, mRNA.	228	Protein kinase.			I -> V (in Ref. 6; BAH12848).	apoptosis|response to stress|sodium ion transport	endoplasmic reticulum|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)		TCTAGCAAAATATTCTCTGGT	0.383000														87			44		0	0	1	0	0
TTC14	151613	broad.mit.edu	37	3	180328127	180328127	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:180328127C>T	uc003fkk.3	+	11	2242	c.2110C>T	c.(2110-2112)Cgt>Tgt	p.R704C	TTC14_uc003fkl.3_3'UTR|TTC14_uc003fkm.2_Intron	NM_133462	NP_597719	Q96N46	TTC14_HUMAN	Homo sapiens tetratricopeptide repeat domain 14 (TTC14), transcript variant 1, mRNA.	704							RNA binding			endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			GCAAAGATACCGTTTAAATAC	0.388000														71			5		0	0	1	0	0
UQCRC1	7384	broad.mit.edu	37	3	48642153	48642153	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:48642153G>T	uc003cub.1	-	3	403	c.358C>A	c.(358-360)Ctt>Att	p.L120I		NM_003365	NP_003356	P31930	QCR1_HUMAN	Homo sapiens ubiquinol-cytochrome c reductase core protein I (UQCRC1), mRNA.	120					aerobic respiration|proteolysis		metalloendopeptidase activity|ubiquinol-cytochrome-c reductase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	Atovaquone(DB01117)	TAGGCATTAAGATGGGCCCCC	0.557000														16			14		2.23348e-06	2.52156e-06	1	1	0
DROSHA	29102	broad.mit.edu	37	5	31511180	31511180	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:31511180G>A	uc003jhg.2	-	7	1753	c.1394C>T	c.(1393-1395)cCg>cTg	p.P465L	DROSHA_uc003jhh.2_Missense_Mutation_p.P428L|DROSHA_uc003jhi.2_Missense_Mutation_p.P428L|DROSHA_uc010iui.1_Missense_Mutation_p.P388L	NM_013235	NP_037367	Q9NRR4	RNC_HUMAN	Homo sapiens drosha, ribonuclease type III (DROSHA), transcript variant 1, mRNA.	465					RNA processing|gene silencing by RNA|ribosome biogenesis	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						AGGTTCCCACGGAGGCCGAGC	0.473000														43			28		0	0	1	0	0
LPHN3	23284	broad.mit.edu	37	4	62845404	62845404	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:62845404C>T	uc010ihh.3	+	14	2898	c.2725C>T	c.(2725-2727)Cgt>Tgt	p.R909C	LPHN3_uc003hcq.4_Missense_Mutation_p.R909C|LPHN3_uc003hct.3_Missense_Mutation_p.R302C	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN	Homo sapiens latrophilin 3 (LPHN3), mRNA.	896					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						CCAGAGTGACCGTAACACCAT	0.483000														125			66		0	0	1	0	0
FAM98A	25940	broad.mit.edu	37	2	33813498	33813498	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:33813498G>A	uc002rpa.1	-	3	500	c.426C>T	c.(424-426)gtC>gtT	p.V142V	FAM98A_uc010yne.1_Intron|FAM98A_uc010ynd.1_5'Flank|FAM98A_uc002roz.1_Silent_p.V19V	NM_015475	NP_056290	Q8NCA5	FA98A_HUMAN	Homo sapiens family with sequence similarity 98, member A (FAM98A), mRNA.	142										NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(1)	24	all_hematologic(175;0.115)					ACTCTTGAAAGACCTCACTAC	0.413000														78			62		0	0	1	0	0
SNRNP70	6625	broad.mit.edu	37	19	49593597	49593597	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:49593597G>A	uc002pmk.3	+	2	636	c.197G>A	c.(196-198)cGc>cAc	p.R66H	SNRNP70_uc002pmh.2_Non-coding_Transcript|SNRNP70_uc002pmm.3_Non-coding_Transcript	NM_003089	NP_003080	P08621	RU17_HUMAN	Homo sapiens small nuclear ribonucleoprotein 70kDa (U1) (SNRNP70), mRNA.	66					nuclear mRNA splicing, via spliceosome|regulation of RNA splicing	nucleoplasm|spliceosomal complex	RNA binding|nucleotide binding|protein binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|skin(2)	12						CGAGAGGAGCGCATGGAGAGG	0.527000														35			10		0	0	1	0	0
TEKT5	146279	broad.mit.edu	37	16	10775890	10775890	+	Missense_Mutation	SNP	A	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:10775890A>T	uc002czz.1	-	3	895	c.823T>A	c.(823-825)Tgc>Agc	p.C275S		NM_144674	NP_653275	Q96M29	TEKT5_HUMAN	Homo sapiens tektin 5 (TEKT5), mRNA.	275					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						AAGCTGATGCAGTCTGACGTA	0.542000														95			72		0	0	1	0	0
AKAP13	11214	broad.mit.edu	37	15	86124819	86124819	+	Missense_Mutation	SNP	G	A	A	rs147919379		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:86124819G>A	uc002blv.1	+	6	3690	c.3520G>A	c.(3520-3522)Gct>Act	p.A1174T	AKAP13_uc002blt.1_Missense_Mutation_p.A1174T|AKAP13_uc002blu.1_Missense_Mutation_p.A1174T|AKAP13_uc010bne.1_5'Flank	NM_007200	NP_009131	Q12802	AKP13_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 13 (AKAP13), transcript variant 2, mRNA.	1174					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	Rho guanyl-nucleotide exchange factor activity|cAMP-dependent protein kinase activity|metal ion binding|protein binding|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						CATGGGTGACGCTGAGGAAGC	0.552000														41			26		0	0	1	0	0
ALG13	79868	broad.mit.edu	37	X	110925385	110925385	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:110925385G>A	uc011msy.2	+	1	208	c.107G>A	c.(106-108)cGa>cAa	p.R36Q	ALG13_uc022ccl.1_Missense_Mutation_p.R36Q|ALG13_uc022ccm.1_Intron|ALG13_uc022ccn.1_Missense_Mutation_p.R36Q|ALG13_uc004epi.2_Missense_Mutation_p.R36Q|ALG13_uc011msw.2_5'UTR|ALG13_uc011msx.2_Intron|ALG13_uc022ccp.1_Intron|ALG13_uc022cco.1_Non-coding_Transcript|ALG13_uc011msz.2_5'UTR|ALG13_uc011mta.2_Intron|ALG13_uc011mtb.2_5'UTR|ALG13_uc022ccq.1_Non-coding_Transcript	NM_001099922	NP_001093392	Q9NP73	ALG13_HUMAN	Homo sapiens asparagine-linked glycosylation 13 homolog (S. cerevisiae) (ALG13), transcript variant 1, mRNA.	36					dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity|carbohydrate binding			endometrium(2)|lung(10)|skin(1)	13						GGTTACAACCGACTTATCCTG	0.438000														114			62		0	0	1	0	0
PRDM15	63977	broad.mit.edu	37	21	43221566	43221566	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:43221566G>T	uc002yzq.1	-	30	4469	c.4358C>A	c.(4357-4359)tCc>tAc	p.S1453Y	PRDM15_uc002yzo.3_Missense_Mutation_p.S1124Y|PRDM15_uc002yzp.3_Missense_Mutation_p.S1144Y|PRDM15_uc002yzr.1_Missense_Mutation_p.S1144Y	NM_022115	NP_071398	P57071	PRD15_HUMAN	Homo sapiens PR domain containing 15 (PRDM15), transcript variant 1, mRNA.	1453					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						GGGCGTGATGGAGTTGACCAG	0.637000														44			35		6.50621e-10	7.80682e-10	1	1	0
SHROOM2	357	broad.mit.edu	37	X	9905180	9905180	+	Missense_Mutation	SNP	G	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:9905180G>C	uc004csu.1	+	6	3684	c.3594G>C	c.(3592-3594)gaG>gaC	p.E1198D	SHROOM2_uc004csv.2_Missense_Mutation_p.E33D|SHROOM2_uc011mic.1_Missense_Mutation_p.E33D|SHROOM2_uc004csw.1_Missense_Mutation_p.E33D	NM_001649	NP_001640	Q13796	SHRM2_HUMAN	Homo sapiens shroom family member 2 (SHROOM2), mRNA.	1198					apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				CCAGAATTGAGCGGGTGATGG	0.577000														3			3		0	0	1	0	0
EPB42	2038	broad.mit.edu	37	15	43512939	43512939	+	Nonsense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:43512939C>A	uc001zrb.4	-	0	385	c.85G>T	c.(85-87)Gga>Tga	p.G29*	EPB42_uc001zra.4_Intron|EPB42_uc010udm.2_Intron	NM_000119	NP_000110	P16452	EPB42_HUMAN	Homo sapiens erythrocyte membrane protein band 4.2 (EPB42), transcript variant 1, mRNA.	0					erythrocyte maturation|peptide cross-linking|regulation of cell shape	cytoplasm|cytoskeleton|plasma membrane	ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton	p.G29R(2)		endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)		ATCCCACTTCCTTTAATGAAA	0.602000														85			60		2.03967e-17	2.60002e-17	1	1	0
MRPL14	64928	broad.mit.edu	37	6	44081608	44081608	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:44081608A>G	uc003owp.3	-	2	539	c.410T>C	c.(409-411)gTg>gCg	p.V137A		NM_032111	NP_115487	Q6P1L8	RM14_HUMAN	Homo sapiens mitochondrial ribosomal protein L14 (MRPL14), nuclear gene encoding mitochondrial protein, mRNA.	137					translation	mitochondrion|ribosome	structural constituent of ribosome			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	12	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0181)			AATGGCCAGCACCTTGGAATA	0.557000														19			17		0	0	1	0	0
CASQ1	844	broad.mit.edu	37	1	160165307	160165307	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:160165307G>A	uc010pja.2	+	4	891	c.634G>A	c.(634-636)Gcc>Acc	p.A212T		NM_001231	NP_001222	P31415	CASQ1_HUMAN	Homo sapiens calsequestrin 1 (fast-twitch, skeletal muscle) (CASQ1), nuclear gene encoding mitochondrial protein, mRNA.	212						mitochondrial matrix|sarcoplasmic reticulum lumen|smooth endoplasmic reticulum	calcium ion binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	21	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CCCCTTCTTCGCCACCTTCGA	0.552000														32			26		0	0	1	0	0
EFCAB4B	84766	broad.mit.edu	37	12	3788249	3788249	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:3788249C>T	uc010sen.1	-	5	928	c.356G>A	c.(355-357)aGc>aAc	p.S119N	EFCAB4B_uc001qmj.2_Missense_Mutation_p.S119N	NM_001144958	NP_001138430	Q9BSW2	EFC4B_HUMAN	Homo sapiens EF-hand calcium binding domain 4B (EFCAB4B), transcript variant 1, mRNA.	119	EF-hand 2.				activation of store-operated calcium channel activity|store-operated calcium entry	cytoplasm	calcium ion binding|protein binding			breast(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)			GTTATTCTGGCTGAAGAAGAA	0.537000														35			25		0	0	1	0	0
NAMPT	10135	broad.mit.edu	37	7	105909631	105909631	+	Missense_Mutation	SNP	T	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:105909631T>A	uc003vdq.3	-	4	883	c.575A>T	c.(574-576)gAt>gTt	p.D192V	NAMPT_uc003vdr.1_Missense_Mutation_p.D192V|NAMPT_uc011klu.1_Missense_Mutation_p.D105V	NM_005746	NP_005737	P43490	NAMPT_HUMAN	Homo sapiens nicotinamide phosphoribosyltransferase (NAMPT), mRNA.	192					NAD biosynthetic process|cell-cell signaling|nicotinamide metabolic process|positive regulation of cell proliferation|positive regulation of nitric-oxide synthase biosynthetic process|signal transduction|water-soluble vitamin metabolic process	cytosol	cytokine activity|nicotinamide phosphoribosyltransferase activity|nicotinate phosphoribosyltransferase activity|nicotinate-nucleotide diphosphorylase (carboxylating) activity	p.H191N(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14						GTAGCCAAAATCATGTAACTT	0.363000														24			47		0	0	1	0	0
ITPR2	3709	broad.mit.edu	37	12	26493197	26493197	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:26493197C>T	uc001rhg.3	-	55	8339	c.7922G>A	c.(7921-7923)aGt>aAt	p.S2641N		NM_002223	NP_002214	Q14571	ITPR2_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 2 (ITPR2), mRNA.	2641					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					ATTTTGCTCACTGTCGCCTTC	0.493000														38			4		0	0	1	0	0
MKI67	4288	broad.mit.edu	37	10	129900968	129900968	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:129900968C>A	uc001lke.3	-	12	9331	c.9136G>T	c.(9136-9138)Gtc>Ttc	p.V3046F	MKI67_uc001lkf.3_Missense_Mutation_p.V2686F|MKI67_uc009yav.1_Missense_Mutation_p.V2621F|MKI67_uc009yaw.1_Missense_Mutation_p.V2196F	NM_002417	NP_002408	P46013	KI67_HUMAN	Homo sapiens antigen identified by monoclonal antibody Ki-67 (MKI67), transcript variant 1, mRNA.	3046					cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TTCATGATGACCACGGGTTCG	0.502000														121			9		2.17888e-05	2.40634e-05	1	1	0
WDR78	79819	broad.mit.edu	37	1	67299299	67299299	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:67299299G>T	uc001dcx.3	-	12	2038	c.1982C>A	c.(1981-1983)gCt>gAt	p.A661D	WDR78_uc009waw.3_Missense_Mutation_p.A407D|WDR78_uc009wax.3_Non-coding_Transcript	NM_024763	NP_079039	Q5VTH9	WDR78_HUMAN	Homo sapiens WD repeat domain 78 (WDR78), transcript variant 1, mRNA.	661										NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						CATTCCAGGAGCCTGTCGAGA	0.343000														30			14		1.49906e-05	1.66078e-05	1	1	0
ACTR10	55860	broad.mit.edu	37	14	58690342	58690342	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:58690342C>T	uc001xdf.3	+	8	740	c.637C>T	c.(637-639)Cgt>Tgt	p.R213C	C14orf37_uc010tro.2_Intron|ACTR10_uc021rtr.1_Missense_Mutation_p.R15C|ACTR10_uc010trp.2_Non-coding_Transcript|ACTR10_uc010apc.3_Missense_Mutation_p.R3C	NM_018477	NP_060947	Q9NZ32	ARP10_HUMAN	Homo sapiens actin-related protein 10 homolog (S. cerevisiae) (ACTR10), mRNA.	213						cytoplasm				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	13						CCTTAAAGCGCGTACTTGCTT	0.338000														14			8		0	0	1	0	0
MED28	80306	broad.mit.edu	37	4	17625336	17625336	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:17625336A>G	uc003gpi.1	+	3	457	c.452A>G	c.(451-453)aAa>aGa	p.K151R	MED28_uc003gpj.3_Non-coding_Transcript	NM_025205	NP_079481	Q9H204	MED28_HUMAN	Homo sapiens mediator complex subunit 28 (MED28), mRNA.	151					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|membrane|nucleus	actin binding			lung(6)|skin(2)	8						GTGCAGCACAAAAAGCCCGCC	0.557000														35			4		0	0	1	0	0
TMF1	7110	broad.mit.edu	37	3	69075205	69075205	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:69075205C>T	uc011bfx.2	-	13	3057	c.2810G>A	c.(2809-2811)cGc>cAc	p.R937H	TMF1_uc003dnn.3_Missense_Mutation_p.R934H	NM_007114	NP_009045	P82094	TMF1_HUMAN	Homo sapiens TATA element modulatory factor 1 (TMF1), mRNA.	934					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi membrane|nucleus	DNA binding|protein binding|transcription cofactor activity			cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		TGAACTTGAGCGTGACATGGT	0.358000														27			13		0	0	1	0	0
KLHL36	79786	broad.mit.edu	37	16	84695222	84695222	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:84695222T>C	uc002fig.3	+	4	1475	c.1334T>C	c.(1333-1335)tTc>tCc	p.F445S	KLHL36_uc010chl.3_Missense_Mutation_p.F381S|AK057887_uc002fih.3_5'Flank	NM_024731	NP_079007	Q8N4N3	KLH36_HUMAN	Homo sapiens kelch-like 36 (Drosophila) (KLHL36), mRNA.	445										endometrium(3)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						TACAAAGACTTCGTGTACATC	0.637000														71			7		0	0	1	0	0
CD1B	910	broad.mit.edu	37	1	158298712	158298712	+	Splice_Site	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:158298712G>A	uc001frx.3	-	5	1088	c.980_splice	c.e5+1	p.R327_splice	CD1B_uc001frw.3_Splice_Site_p.R272_splice	NM_001764	NP_001755	P29016	CD1B_HUMAN	Homo sapiens CD1b molecule (CD1B), mRNA.	327					antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding			breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					ACAACTCACCGGCGCCTCATA	0.383000														31			10		0	0	1	0	0
MYO10	4651	broad.mit.edu	37	5	16671615	16671615	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:16671615C>A	uc003jft.4	-	37	5814	c.5346G>T	c.(5344-5346)tgG>tgT	p.W1782C	MYO10_uc011cnb.2_Missense_Mutation_p.W411C|MYO10_uc011cnc.2_Missense_Mutation_p.W661C|MYO10_uc011cnd.2_Missense_Mutation_p.W1139C|MYO10_uc011cne.2_Missense_Mutation_p.W1139C|MYO10_uc010itx.3_Missense_Mutation_p.W1404C	NM_012334	NP_036466	Q9HD67	MYO10_HUMAN	Homo sapiens myosin X (MYO10), mRNA.	1782	FERM.				axon guidance|signal transduction	myosin complex	ATP binding|actin binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						AGTAGAATTTCCATGGCAGGT	0.483000														25			13		4.3838e-07	5.01911e-07	1	1	0
OR4N5	390437	broad.mit.edu	37	14	20612023	20612023	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:20612023C>A	uc010tla.2	+	0	129	c.129C>A	c.(127-129)ttC>ttA	p.F43L		NM_001004724	NP_001004724	Q8IXE1	OR4N5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 5 (OR4N5), mRNA.	43					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		CTGGAAATTTCCTCATCATTT	0.448000														211			16		6.94344e-10	8.32448e-10	1	1	0
POLE	5426	broad.mit.edu	37	12	133219227	133219227	+	Missense_Mutation	SNP	A	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:133219227A>T	uc001uks.1	-	36	4861	c.4817T>A	c.(4816-4818)tTc>tAc	p.F1606Y	POLE_uc001ukq.1_5'Flank|POLE_uc001ukr.1_Missense_Mutation_p.F410Y|POLE_uc010tbq.1_Non-coding_Transcript	NM_006231	NP_006222	Q07864	DPOE1_HUMAN	Homo sapiens polymerase (DNA directed), epsilon (POLE), mRNA.	1606					DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity|chromatin binding|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		CACCAGTGGGAATTCCTCCAA	0.602000								DNA polymerases (catalytic subunits)						43			8		0	0	1	0	0
SMARCD1	6602	broad.mit.edu	37	12	50490635	50490635	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:50490635C>T	uc001rvx.4	+	10	1442	c.1272C>T	c.(1270-1272)atC>atT	p.I424I	SMARCD1_uc001rvy.4_Intron|SMARCD1_uc009zlp.3_Silent_p.I383I	NM_003076	NP_003067	Q96GM5	SMRD1_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1 (SMARCD1), transcript variant 1, mRNA.	424	Interaction with SMARCC1 and SMARCC2.|Necessary for GR/NR3C1-mediated remodeling and transcription from chromatin; required for GR/NR3C1 interaction with the BRG1/SMARCA4 complex in vivo.				chromatin-mediated maintenance of transcription|nervous system development|regulation of transcription from RNA polymerase II promoter	SWI/SNF complex|nBAF complex|npBAF complex|nucleoplasm	protein complex scaffold|transcription coactivator activity			NS(1)|breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	18						CCTTTCAGATCCATGAGACAA	0.458000														25			22		0	0	1	0	0
ESPN	83715	broad.mit.edu	37	1	6520200	6520200	+	Missense_Mutation	SNP	G	T	T	rs141783157	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:6520200G>T	uc001amy.3	+	12	2727	c.2559G>T	c.(2557-2559)aaG>aaT	p.K853N	ESPN_uc001amz.3_Missense_Mutation_p.K287N	NM_031475	NP_113663	B1AK53	ESPN_HUMAN	Homo sapiens espin (ESPN), mRNA.	853					sensory perception of sound	brush border|cytoplasm|filamentous actin|stereocilium	SH3 domain binding|actin filament binding			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)	17	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)		Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419)		ACATCGCTAAGTACTAGAGGC	0.662000														31			4		0.184627	0.186034	1	1	0
LRRC8A	56262	broad.mit.edu	37	9	131671556	131671556	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:131671556G>A	uc004bwl.4	+	2	2367	c.2113G>A	c.(2113-2115)Ggc>Agc	p.G705S	LRRC8A_uc010myp.3_Missense_Mutation_p.G705S|LRRC8A_uc010myq.3_Missense_Mutation_p.G705S	NM_019594	NP_062540	Q8IWT6	LRC8A_HUMAN	Homo sapiens leucine rich repeat containing 8 family, member A (LRRC8A), transcript variant 2, mRNA.	705					pre-B cell differentiation	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						TGCCGACATCGGCCTCCTGCA	0.642000														25			24		0	0	1	0	0
ST5	6764	broad.mit.edu	37	11	8718054	8718054	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:8718054C>T	uc001mgt.3	-	17	3398	c.3212G>A	c.(3211-3213)cGc>cAc	p.R1071H	ST5_uc009yfr.3_Missense_Mutation_p.R651H|ST5_uc001mgu.3_Missense_Mutation_p.R651H|ST5_uc001mgv.3_Missense_Mutation_p.R1071H|ST5_uc010rbp.2_Missense_Mutation_p.R584H	NM_213618	NP_998783	P78524	ST5_HUMAN	Homo sapiens suppression of tumorigenicity 5 (ST5), transcript variant 3, mRNA.	1071	dDENN.				positive regulation of ERK1 and ERK2 cascade		protein binding			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		CTCAAGAAAGCGGCGGATGCT	0.512000														176			83		0	0	1	0	0
SYNPO2	171024	broad.mit.edu	37	4	119951996	119951996	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:119951996G>A	uc010inb.3	+	3	2262	c.2066G>A	c.(2065-2067)aGg>aAg	p.R689K	SYNPO2_uc010ina.3_Missense_Mutation_p.R689K|SYNPO2_uc003icm.4_Missense_Mutation_p.R689K|SYNPO2_uc011cgh.2_Intron|SYNPO2_uc010inc.3_Missense_Mutation_p.R617K|SYNPO2_uc021xrd.1_5'Flank	NM_133477	NP_597734	Q9UMS6	SYNP2_HUMAN	Homo sapiens synaptopodin 2 (SYNPO2), transcript variant 1, mRNA.	689						Z disc|nucleus	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GAGGCCAAAAGGAGAAGCACG	0.468000														22			13		0	0	1	0	0
WDR27	253769	broad.mit.edu	37	6	170033068	170033068	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:170033068G>A	uc003qwx.3	-	20	2718	c.2198C>T	c.(2197-2199)cCt>cTt	p.P733L	WDR27_uc003qwv.2_Non-coding_Transcript|WDR27_uc021zio.1_Missense_Mutation_p.P733L|WDR27_uc003qwy.3_Missense_Mutation_p.P606L	NM_182552	NP_872358	A2RRH5	WDR27_HUMAN	Homo sapiens WD repeat domain 27 (WDR27), transcript variant 1, mRNA.	703										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	12		Breast(66;1.53e-05)|Ovarian(120;0.216)		OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168)		TTGATGGACAGGCCGTGAGTG	0.468000														13			8		0	0	1	0	0
ADCY10	55811	broad.mit.edu	37	1	167830117	167830117	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:167830117G>T	uc001ger.3	-	14	2099	c.1801C>A	c.(1801-1803)Cat>Aat	p.H601N	ADCY10_uc010plj.2_Missense_Mutation_p.H448N|ADCY10_uc009wvk.3_Missense_Mutation_p.H509N|ADCY10_uc009wvl.3_Missense_Mutation_p.H600N	NM_018417	NP_001161221	Q96PN6	ADCYA_HUMAN	Homo sapiens adenylate cyclase 10 (soluble) (ADCY10), transcript variant 1, mRNA.	601					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	ATP binding|adenylate cyclase activity|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						ACCTGAACATGGAAAATGTCA	0.398000														72			20		1.96292e-10	2.36921e-10	1	1	0
CASKIN2	57513	broad.mit.edu	37	17	73499250	73499250	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:73499250G>A	uc002joc.3	-	17	2455	c.1905C>T	c.(1903-1905)ggC>ggT	p.G635G	CASKIN2_uc010wsc.2_Silent_p.G553G	NM_020753	NP_001136115	Q8WXE0	CSKI2_HUMAN	Homo sapiens CASK interacting protein 2 (CASKIN2), transcript variant 1, mRNA.	635						cytoplasm				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCCGGCGCCCGCCTTCGCTGA	0.692000														7			4		0	0	1	0	0
NDUFV3	4731	broad.mit.edu	37	21	44323306	44323306	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:44323306A>G	uc002zcm.3	+	2	250	c.184A>G	c.(184-186)Aag>Gag	p.K62E	NDUFV3_uc002zcn.3_Intron	NM_021075	NP_066553	P56181	NDUV3_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa (NDUFV3), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	0					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I|nucleus	NADH dehydrogenase (ubiquinone) activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	10				STAD - Stomach adenocarcinoma(101;0.0606)	NADH(DB00157)	AGTGGAACCAAAGGAGAGGGG	0.418000														41			6		0	0	1	0	0
MAB21L1	4081	broad.mit.edu	37	13	36050146	36050146	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:36050146C>T	uc001uvc.3	-	1	712	c.130G>A	c.(130-132)Gaa>Aaa	p.E44K	NBEA_uc021ric.1_Intron|NBEA_uc021rid.1_Intron|NBEA_uc010abi.3_Intron|NBEA_uc010tee.1_Intron|NBEA_uc010tef.2_5'Flank|NBEA_uc010teg.1_5'Flank	NM_005584	NP_005575	Q13394	MB211_HUMAN	Homo sapiens mab-21-like 1 (C. elegans) (MAB21L1), mRNA.	44					anatomical structure morphogenesis	nucleus				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	20		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)		all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115)		ACTTCCACTTCCTTCAGTACG	0.502000														53			24		0	0	1	0	0
KCNQ3	3786	broad.mit.edu	37	8	133192544	133192544	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:133192544C>T	uc003ytj.3	-	3	862	c.637G>A	c.(637-639)Gtt>Att	p.V213I	KCNQ3_uc003yti.3_Missense_Mutation_p.V93I|KCNQ3_uc010mdt.3_Missense_Mutation_p.V213I	NM_004519	NP_004510	O43525	KCNQ3_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 3 (KCNQ3), transcript variant 1, mRNA.	213					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			CCCACAGCAACCACTGGCACA	0.582000														53			16		0	0	1	0	0
PAK7	57144	broad.mit.edu	37	20	9560823	9560823	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:9560823C>T	uc002wnl.2	-	4	1504	c.959G>A	c.(958-960)cGc>cAc	p.R320H	PAK7_uc002wnk.2_Missense_Mutation_p.R320H|PAK7_uc002wnj.2_Missense_Mutation_p.R320H|PAK7_uc010gby.1_Missense_Mutation_p.R320H	NM_020341	NP_817127	Q9P286	PAK7_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 7 (PAK7), transcript variant 1, mRNA.	320	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity	p.P319L(1)|p.R320C(1)		NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			CTCGGACAAGCGAGGGTAGGT	0.537000														131			9		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106919294	106919294	+	RNA	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:106919294C>T	uc021ser.1	-	337		c.11886G>A								Parts of antibodies, mostly variable regions.																		ACAGATGCAGCGCATTCTGTC	0.488000														8			7		0	0	1	0	0
MYO10	4651	broad.mit.edu	37	5	16763613	16763613	+	Nonsense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:16763613C>A	uc003jft.4	-	13	1939	c.1471G>T	c.(1471-1473)Gaa>Taa	p.E491*	MYO10_uc010itx.3_Nonsense_Mutation_p.E114*	NM_012334	NP_036466	Q9HD67	MYO10_HUMAN	Homo sapiens myosin X (MYO10), mRNA.	491	Myosin head-like.				axon guidance|signal transduction	myosin complex	ATP binding|actin binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						TCCAGGCATTCTCCATTGTCT	0.373000														65			6		0.27861	0.27975	1	1	0
PDE6B	5158	broad.mit.edu	37	4	619547	619547	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:619547C>T	uc003gap.3	+	0	185	c.132C>T	c.(130-132)tgC>tgT	p.C44C	PDE6B_uc003gao.4_Silent_p.C44C	NM_000283	NP_001138764	P35913	PDE6B_HUMAN	Homo sapiens phosphodiesterase 6B, cGMP-specific, rod, beta (PDE6B), transcript variant 1, mRNA.	44					GMP metabolic process|cytosolic calcium ion homeostasis|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						CGCCGGACTGCGACAGCCTCC	0.632000														20			18		0	0	1	0	0
SNX17	9784	broad.mit.edu	37	2	27597589	27597589	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:27597589G>T	uc002rkg.1	+	7	867	c.645G>T	c.(643-645)atG>atT	p.M215I	SNX17_uc010ylj.1_Missense_Mutation_p.M195I|SNX17_uc002rki.1_Intron|SNX17_uc002rkh.1_Missense_Mutation_p.M1I|SNX17_uc010yll.1_Missense_Mutation_p.M1I|SNX17_uc010ylm.1_Missense_Mutation_p.M1I|SNX17_uc010yln.1_Missense_Mutation_p.M203I|SNX17_uc010ylo.1_Missense_Mutation_p.M133I|SNX17_uc010ylp.1_Missense_Mutation_p.M190I|SNX17_uc010ylk.1_Missense_Mutation_p.M1I|SNX17_uc010eza.1_Missense_Mutation_p.M1I|SNX17_uc010ylq.1_Missense_Mutation_p.M1I	NM_014748	NP_055563	Q15036	SNX17_HUMAN	Homo sapiens sorting nexin 17 (SNX17), mRNA.	215					cell communication|endosome transport|intracellular protein transport|regulation of endocytosis|signal transduction	Golgi apparatus|cytoplasmic vesicle membrane|cytosol|early endosome	low-density lipoprotein particle receptor binding|phosphatidylinositol binding|protein C-terminus binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACGATGTCATGGAGAACCGGG	0.522000														87			7		5.68852e-11	6.91301e-11	1	1	0
ADA	100	broad.mit.edu	37	20	43249743	43249743	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:43249743C>T	uc002xmj.3	-	9	1019	c.891G>A	c.(889-891)ccG>ccA	p.P297P		NM_000022	NP_000013	P00813	ADA_HUMAN	Homo sapiens adenosine deaminase (ADA), mRNA.	297			P -> Q (in ADASCID; dbSNP:rs121908718).		T cell activation|adenosine catabolic process|cell adhesion|hypoxanthine salvage|inosine biosynthetic process|negative regulation of adenosine receptor signaling pathway|purine nucleotide salvage|purine ribonucleoside monophosphate biosynthetic process|regulation of cell-cell adhesion mediated by integrin|response to hypoxia	cell junction|cytoplasmic membrane-bounded vesicle lumen|cytosol|external side of plasma membrane|lysosome	adenosine deaminase activity|protein binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(2)|prostate(3)|skin(2)|urinary_tract(1)	18		all_lung(126;1.24e-07)|Lung NSC(126;1.94e-07)|Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)		Adenosine(DB00640)|Cladribine(DB00242)|Dipyridamole(DB00975)|Erythromycin(DB00199)|Fludarabine(DB01073)|Idoxuridine(DB00249)|Nelarabine(DB01280)|Pentostatin(DB00552)|Theophylline(DB00277)|Vidarabine(DB00194)	TGAAGATGAGCGGGTCATCTG	0.483000									Adenosine Deaminase Deficiency					39			33		0	0	1	0	0
TMPRSS9	360200	broad.mit.edu	37	19	2405514	2405514	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:2405514G>A	uc010xgx.2	+	5	711	c.711G>A	c.(709-711)tgG>tgA	p.W237*	TMPRSS9_uc002lvv.1_Nonsense_Mutation_p.W271*	NM_182973	NP_892018	Q7Z410	TMPS9_HUMAN	Homo sapiens transmembrane protease, serine 9 (TMPRSS9), mRNA.	237	Peptidase S1 1.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACGCCAGGTGGCTGGTGTCTG	0.597000														38			8		0	0	1	0	0
DOCK5	80005	broad.mit.edu	37	8	26221333	26221333	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:26221333T>C	uc003xeu.3	+	7	1228	c.899T>C	c.(898-900)aTg>aCg	p.M300T	DOCK5_uc003xek.3_Missense_Mutation_p.M301T|DOCK5_uc011laf.2_Missense_Mutation_p.M310T	NM_002717	NP_002708	Q9H7D0	DOCK5_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B, alpha (PPP2R2A), transcript variant 1, mRNA.	716						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		GGTCGATATATGATGACTAGA	0.363000														54			25		0	0	1	0	0
CALCOCO1	57658	broad.mit.edu	37	12	54115881	54115881	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:54115881G>A	uc001sef.3	-	4	681	c.537C>T	c.(535-537)agC>agT	p.S179S	CALCOCO1_uc010som.2_Silent_p.S146S|CALCOCO1_uc010son.2_Silent_p.S56S|CALCOCO1_uc009znd.3_Silent_p.S179S|CALCOCO1_uc001seg.3_Silent_p.S56S|CALCOCO1_uc001seh.2_Silent_p.S179S|CALCOCO1_uc010soo.1_Silent_p.S172S	NM_020898	NP_065949	Q9P1Z2	CACO1_HUMAN	Homo sapiens calcium binding and coiled-coil domain 1 (CALCOCO1), transcript variant 1, mRNA.	179	N-terminal AD (CTNNB1 binding site) (By similarity).				Wnt receptor signaling pathway|steroid hormone receptor signaling pathway|transcription, DNA-dependent	cytoplasm	armadillo repeat domain binding|beta-catenin binding|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|sequence-specific DNA binding|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	28						CCTGCACTCGGCTCCTCAGCT	0.602000														61			7		0	0	1	0	0
CUL9	23113	broad.mit.edu	37	6	43181530	43181530	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:43181530C>T	uc003ouk.3	+	28	5643	c.5568C>T	c.(5566-5568)aaC>aaT	p.N1856N	CUL9_uc003oul.3_Intron|CUL9_uc010jyk.3_Silent_p.N1008N|CUL9_uc003oun.3_5'Flank	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN	Homo sapiens cullin 9 (CUL9), mRNA.	1856				Missing (in Ref. 3; CAH18696).	ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						CATACCTGAACGTAGAGAAGG	0.587000														34			24		0	0	1	0	0
ZNF711	7552	broad.mit.edu	37	X	84520139	84520139	+	Missense_Mutation	SNP	T	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:84520139T>A	uc004eeq.3	+	5	1680	c.794T>A	c.(793-795)gTc>gAc	p.V265D	ZNF711_uc004eep.3_Missense_Mutation_p.V265D|ZNF711_uc004eeo.3_Missense_Mutation_p.V265D|ZNF711_uc011mqy.1_5'UTR	NM_021998	NP_068838	Q9Y462	ZN711_HUMAN	Homo sapiens zinc finger protein 711 (ZNF711), mRNA.	265				IVT -> MSP (in Ref. 4; CAA39837).	positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding	p.R264*(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						ACAGAAATTGTCACAGAGAGT	0.368000														53			35		0	0	1	0	0
FAM48A	55578	broad.mit.edu	37	13	37622074	37622074	+	Splice_Site	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:37622074C>T	uc001uwk.3	-	4	288	c.40_splice	c.e4-1	p.Y14_splice	FAM48A_uc010abt.3_Splice_Site_p.Y14_splice|FAM48A_uc001uwg.3_Splice_Site_p.Y14_splice|FAM48A_uc001uwh.3_Splice_Site_p.Y14_splice|FAM48A_uc001uwi.3_Splice_Site_p.Y14_splice|FAM48A_uc001uwj.3_Splice_Site_p.Y14_splice|FAM48A_uc010tes.1_Splice_Site_p.Y2_splice|FAM48A_uc001uwl.1_Splice_Site_p.Y14_splice	NM_017569	NP_060039	Q8NEM7	FA48A_HUMAN	Homo sapiens family with sequence similarity 48, member A (FAM48A), transcript variant 2, mRNA.	14					autophagy|gastrulation	SAGA-type complex	protein binding			cervix(1)|endometrium(2)|large_intestine(6)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19		Lung NSC(96;2.09e-06)|Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.0959)		all cancers(112;6.06e-07)|Epithelial(112;1.87e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00794)|BRCA - Breast invasive adenocarcinoma(63;0.0128)|GBM - Glioblastoma multiforme(144;0.0477)		CAATGACATACTAAAAAACAA	0.318000														44			16		0	0	1	0	0
ADAMTS8	11095	broad.mit.edu	37	11	130284492	130284492	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:130284492C>T	uc001qgg.4	-	4	1858	c.1500G>A	c.(1498-1500)ccG>ccA	p.P500P	ADAMTS8_uc001qgf.3_5'Flank	NM_007037	NP_008968	Q9UP79	ATS8_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 8 (ADAMTS8), mRNA.	500	Disintegrin.				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		CAGGCCCGCACGGCGTGCCGT	0.667000														67			21		0	0	1	0	0
NEDD9	4739	broad.mit.edu	37	6	11191146	11191146	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:11191146A>G	uc003mzv.2	-	4	1123	c.956T>C	c.(955-957)gTc>gCc	p.V319A	NEDD9_uc010joz.2_Missense_Mutation_p.V319A|NEDD9_uc003mzw.3_Missense_Mutation_p.V173A	NM_006403	NP_006394	Q14511	CASL_HUMAN	Homo sapiens neural precursor cell expressed, developmentally down-regulated 9 (NEDD9), transcript variant 1, mRNA.	319					actin filament bundle assembly|cell adhesion|cell division|integrin-mediated signaling pathway|mitosis|regulation of growth	Golgi apparatus|cell cortex|focal adhesion|lamellipodium|nucleus	protein binding			endometrium(3)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	Epithelial(50;0.0647)|all cancers(50;0.179)			GCCTCGGGGGACATCATATGC	0.577000														38			24		0	0	1	0	0
OR5K1	26339	broad.mit.edu	37	3	98188702	98188702	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:98188702C>A	uc003dsm.3	+	0	282	c.282C>A	c.(280-282)ctC>ctA	p.L94L		NM_001004736	NP_001004736	Q8NHB7	OR5K1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily K, member 1 (OR5K1), mRNA.	94					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GGATTTCCCTCTATGAATGTG	0.433000														192			17		3.45872e-05	3.81293e-05	1	1	0
ESR1	2099	broad.mit.edu	37	6	152332875	152332875	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:152332875G>A	uc010kio.3	+	5	1405	c.1187G>A	c.(1186-1188)cGc>cAc	p.R396H	ESR1_uc003qom.4_Missense_Mutation_p.R394H|ESR1_uc010kin.3_Missense_Mutation_p.R394H|ESR1_uc010kip.3_Missense_Mutation_p.R393H|ESR1_uc003qon.4_Missense_Mutation_p.R394H|ESR1_uc010kir.3_Intron|ESR1_uc003qoo.4_Missense_Mutation_p.R394H|ESR1_uc010kiq.3_Intron|ESR1_uc021zgz.1_Intron|ESR1_uc011eeu.2_Intron|ESR1_uc011eev.2_Intron|ESR1_uc011eew.2_Intron|ESR1_uc011eet.2_Intron|ESR1_uc010kis.3_Missense_Mutation_p.R109H|ESR1_uc021zha.1_Intron|ESR1_uc011eex.2_Missense_Mutation_p.R175H|ESR1_uc010kit.1_Intron|ESR1_uc011eey.2_Missense_Mutation_p.R131H	NM_001122742	NP_001116214	P03372	ESR1_HUMAN	Homo sapiens estrogen receptor 1 (ESR1), transcript variant 4, mRNA.	394	Interaction with AKAP13.|Steroid-binding.				positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	chromatin remodeling complex|cytoplasm|nucleoplasm	beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1)	49		Ovarian(120;0.0448)	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	Chlorotrianisene(DB00269)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Dromostanolone(DB00858)|Drospirenone(DB01395)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Letrozole(DB01006)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)	CTCGTCTGGCGCTCCATGGAG	0.498000														53			34		0	0	1	0	0
PAX5	5079	broad.mit.edu	37	9	36882013	36882013	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:36882013C>A	uc003zzo.1	-	7	1448	c.1000G>T	c.(1000-1002)Ggg>Tgg	p.G334W	PAX5_uc011lpt.1_Missense_Mutation_p.G130W|PAX5_uc011lpu.1_Intron|PAX5_uc011lpv.1_Intron|PAX5_uc011lqc.1_Missense_Mutation_p.G291W|PAX5_uc010mlr.1_Intron|PAX5_uc011lpw.1_Intron|PAX5_uc011lpx.1_Intron|PAX5_uc011lpy.1_Intron|PAX5_uc010mls.1_Intron|PAX5_uc011lpz.1_Missense_Mutation_p.G291W|PAX5_uc011lqa.1_Missense_Mutation_p.G226W|PAX5_uc010mlq.1_Non-coding_Transcript|PAX5_uc011lqb.1_Non-coding_Transcript|PAX5_uc010mlo.1_Intron|PAX5_uc010mlp.1_Missense_Mutation_p.G334W	NM_016734	NP_057953	Q02548	PAX5_HUMAN	Homo sapiens paired box 5 (PAX5), mRNA.	334					cell differentiation|humoral immune response|nervous system development|organ morphogenesis|spermatogenesis|transcription from RNA polymerase II promoter	nucleus	DNA binding	p.?(22)|p.T333fs*>59(1)|p.T333fs*?(1)	PAX5/JAK2(18)	NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(151)|kidney(1)|lung(10)|prostate(1)|skin(1)	171		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)		GBM - Glioblastoma multiforme(29;0.0108)		GGCACCATCCCTGTCAGCGTC	0.667000			"""T, Mis, D, F, S"""	"""IGH@, ETV6, PML, FOXP1, ZNF521, ELN"""	"""NHL, ALL, B-ALL"""									8			8		0.000157383	0.000170012	1	1	0
FRY	10129	broad.mit.edu	37	13	32808887	32808887	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:32808887G>T	uc001utx.3	+	41	6200	c.5704G>T	c.(5704-5706)Gat>Tat	p.D1902Y	FRY_uc010tdw.2_Non-coding_Transcript	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	Homo sapiens furry homolog (Drosophila) (FRY), mRNA.	1902					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		AGAACATGGAGATGAGATTCA	0.473000														15			13		1.5842e-08	1.86177e-08	1	1	0
TSPEAR	54084	broad.mit.edu	37	21	45941952	45941952	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:45941952C>T	uc002zfe.1	-	8	1446	c.1380G>A	c.(1378-1380)ccG>ccA	p.P460P	TSPEAR_uc010gpv.1_Silent_p.P392P	NM_144991	NP_659428	Q8WU66	TSEAR_HUMAN	Homo sapiens thrombospondin-type laminin G domain and EAR repeats (TSPEAR), mRNA.	460					cell adhesion	extracellular region	structural molecule activity			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						GCCGGGTTGCCGGGTTCCACT	0.622000														102			58		0	0	1	0	0
AK124970	0	broad.mit.edu	37	1	224190280	224190280	+	RNA	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:224190280A>G	uc001hog.1	+	0		c.672A>G								Homo sapiens cDNA FLJ42980 fis, clone BRTHA2006735.																		TGCTTACAATAGTTGATACCC	0.388000														94			12		0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158637679	158637679	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:158637679C>T	uc001fst.1	-	14	2206	c.2007G>A	c.(2005-2007)tgG>tgA	p.W669*		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	669					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GCAACTCCTCCCAGAGGCTGG	0.433000														51			12		0	0	1	0	0
CASZ1	54897	broad.mit.edu	37	1	10714227	10714227	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:10714227C>A	uc001aro.3	-	10	2207	c.1887G>T	c.(1885-1887)aaG>aaT	p.K629N	CASZ1_uc001arp.1_Missense_Mutation_p.K629N|CASZ1_uc009vmx.2_Missense_Mutation_p.K653N	NM_001079843	NP_001073312	Q86V15	CASZ1_HUMAN	Homo sapiens castor zinc finger 1 (CASZ1), transcript variant 1, mRNA.	629					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)		AGCTCTTGTGCTTCTCGATGT	0.557000														57			5		3.59834e-05	3.95114e-05	1	1	0
DAZAP1	26528	broad.mit.edu	37	19	1422373	1422373	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:1422373C>T	uc002lsn.3	+	5	630	c.441C>T	c.(439-441)gaC>gaT	p.D147D	DAZAP1_uc002lsm.3_Silent_p.D147D	NM_018959	NP_061832	Q96EP5	DAZP1_HUMAN	Homo sapiens DAZ associated protein 1 (DAZAP1), transcript variant 2, mRNA.	147	RRM 2.				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	RNA binding|nucleotide binding			breast(2)|endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGATCTATGACGCCGAGAAGC	0.612000														72			39		0	0	1	0	0
MAP1B	4131	broad.mit.edu	37	5	71492953	71492953	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:71492953G>A	uc003kbw.4	+	4	4012	c.3771G>A	c.(3769-3771)ccG>ccA	p.P1257P	MAP1B_uc010iyw.1_Silent_p.P1274P|MAP1B_uc010iyx.1_Silent_p.P1131P|MAP1B_uc010iyy.1_Silent_p.P1131P	NM_005909	NP_005900	P46821	MAP1B_HUMAN	Homo sapiens microtubule-associated protein 1B (MAP1B), mRNA.	1257						microtubule|microtubule associated complex	structural molecule activity	p.P1257P(4)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		CGAAGAGCCCGTCCCTGAGTC	0.498000														34			22		0	0	1	0	0
LUZP1	7798	broad.mit.edu	37	1	23419182	23419182	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:23419182C>T	uc001bgk.2	-	3	2123	c.1573G>A	c.(1573-1575)Ggt>Agt	p.G525S	LUZP1_uc010odv.1_Missense_Mutation_p.G525S|LUZP1_uc001bgl.3_Missense_Mutation_p.G525S|LUZP1_uc001bgm.1_Missense_Mutation_p.G525S	NM_033631	NP_361013	Q86V48	LUZP1_HUMAN	Homo sapiens leucine zipper protein 1 (LUZP1), transcript variant 1, mRNA.	525						nucleus				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		TCAGCTCTACCCAATGGGTCA	0.532000														146			20		0	0	1	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3670648	3670648	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:3670648G>T	uc002wja.3	-	17	4855	c.4855C>A	c.(4855-4857)Ctg>Atg	p.L1619M	SIGLEC1_uc002wiz.4_Missense_Mutation_p.L1619M|SIGLEC1_uc002wjb.1_Missense_Mutation_p.L258M	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 1, sialoadhesin (SIGLEC1), mRNA.	1619	Ig-like C2-type 16.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding	p.V1618V(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						GCAGAGCCCAGGACATTTGAG	0.602000														16			13		3.45872e-05	3.81293e-05	1	1	0
RBL2	5934	broad.mit.edu	37	16	53472995	53472995	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:53472995G>A	uc002ehi.4	+	1	426	c.308G>A	c.(307-309)aGc>aAc	p.S103N	RBL2_uc010vgv.1_Missense_Mutation_p.S29N	NM_005611	NP_005602	Q08999	RBL2_HUMAN	Homo sapiens retinoblastoma-like 2 (p130) (RBL2), mRNA.	103					cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						CCAACTGTAAGCAAAGGGACA	0.353000														42			24		0	0	1	0	0
CDAN1	146059	broad.mit.edu	37	15	43020212	43020212	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:43020212T>C	uc001zql.3	-	21	3005	c.2888A>G	c.(2887-2889)aAc>aGc	p.N963S	CDAN1_uc001zqj.3_Non-coding_Transcript|CDAN1_uc001zqk.3_Missense_Mutation_p.N289S	NM_138477	NP_612486	Q8IWY9	CDAN1_HUMAN	Homo sapiens congenital dyserythropoietic anemia, type I (CDAN1), mRNA.	963						integral to membrane	protein binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		CACAGCAATGTTCTCTGCACT	0.552000														224			9		0	0	1	0	0
PDE6C	5146	broad.mit.edu	37	10	95385337	95385337	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:95385337C>A	uc001kiu.4	+	4	1008	c.870C>A	c.(868-870)ttC>ttA	p.F290L		NM_006204	NP_006195	P51160	PDE6C_HUMAN	Homo sapiens phosphodiesterase 6C, cGMP-specific, cone, alpha prime (PDE6C), mRNA.	290	GAF 2.				visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)				TCCAGGAATTCTACGATGAAT	0.373000														42			6		8.12818e-05	8.84769e-05	1	1	0
USP26	83844	broad.mit.edu	37	X	132161316	132161316	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:132161316C>A	uc011mvf.2	-	0	985	c.933G>T	c.(931-933)caG>caT	p.Q311H	USP26_uc010nrm.1_Missense_Mutation_p.Q311H	NM_031907	NP_114113	Q9BXU7	UBP26_HUMAN	Homo sapiens ubiquitin specific peptidase 26 (USP26), mRNA.	311					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					AAAGTAGAGACTGTAACACTG	0.393000														36			27		3.73988e-18	4.78508e-18	1	1	0
CDKN2AIP	55602	broad.mit.edu	37	4	184367411	184367411	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:184367411C>T	uc003ivp.1	+	2	736	c.574C>T	c.(574-576)Cgg>Tgg	p.R192W	CDKN2AIP_uc003ivq.1_5'UTR	NM_017632	NP_060102	Q9NXV6	CARF_HUMAN	Homo sapiens CDKN2A interacting protein (CDKN2AIP), mRNA.	192	Ser-rich.				negative regulation of cell growth|positive regulation of signal transduction|regulation of protein stability	granular component|nucleoplasm	double-stranded RNA binding|p53 binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(1)	6		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-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;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		GAACTCAGCTCGGAGCTCTGG	0.512000														30			19		0	0	1	0	0
A1BG	1	broad.mit.edu	37	19	58862761	58862761	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58862761G>A	uc002qsd.4	-	4	968	c.906C>T	c.(904-906)agC>agT	p.S302S	A1BG-AS1_uc002qse.3_Intron|A1BG_uc002qsf.2_Non-coding_Transcript|A1BG-AS1_uc002qsg.3_5'Flank	NM_130786	NP_570602	P04217	A1BG_HUMAN	Homo sapiens alpha-1-B glycoprotein (A1BG), mRNA.	302	Ig-like V-type 4.					extracellular region				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|prostate(2)	15		all_cancers(17;3.04e-16)|all_epithelial(17;7.77e-12)|Lung NSC(17;3.25e-05)|Colorectal(82;5.46e-05)|all_lung(17;0.000129)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(17;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0269)		GCTCACCATCGCTCAGAATCA	0.667000														48			40		0	0	1	0	0
ZNF180	7733	broad.mit.edu	37	19	44980826	44980826	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:44980826C>A	uc002ozf.4	-	4	2154	c.1872G>T	c.(1870-1872)caG>caT	p.Q624H	ZNF180_uc002ozh.4_Missense_Mutation_p.Q281H|ZNF180_uc002ozi.4_Missense_Mutation_p.Q597H|ZNF180_uc002ozg.4_Missense_Mutation_p.Q623H|ZNF180_uc010ejm.3_Missense_Mutation_p.Q599H	NM_013256	NP_037388	Q9UJW8	ZN180_HUMAN	Homo sapiens zinc finger protein 180 (ZNF180), mRNA.	624					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33		Prostate(69;0.0435)				TATGAGTTCTCTGATGTTGAG	0.403000														104			12		5.50884e-06	6.15991e-06	1	1	0
MS4A1	931	broad.mit.edu	37	11	60234484	60234484	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:60234484C>A	uc009yna.3	+	5	953	c.626C>A	c.(625-627)gCt>gAt	p.A209D	MS4A1_uc009ymz.3_Missense_Mutation_p.A196D|MS4A1_uc010rlc.2_Missense_Mutation_p.A42D|MS4A1_uc001npp.3_Missense_Mutation_p.A209D|MS4A1_uc001npq.3_Missense_Mutation_p.A209D	NM_152866	NP_690605	P11836	CD20_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 1 (MS4A1), transcript variant 1, mRNA.	209					B cell activation|immune response	integral to plasma membrane		p.A209T(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24					Ibritumomab(DB00078)|Rituximab(DB00073)|Tositumomab(DB00081)	CTTGTAATAGCTGGCATCGTT	0.423000														56			37		1.08169e-08	1.27418e-08	1	1	0
SULT1B1	27284	broad.mit.edu	37	4	70599226	70599226	+	Splice_Site	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:70599226C>A	uc003hen.3	-	6	801	c.503_splice	c.e6-1	p.V168_splice		NM_014465	NP_055280	O43704	ST1B1_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 1B, member 1 (SULT1B1), mRNA.	168					3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process	cytosol				breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1)	24						CCATAGGCCACTAAAACCAGA	0.289000														58			35		4.65686e-17	5.91956e-17	1	1	0
AGT	183	broad.mit.edu	37	1	230841942	230841942	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:230841942C>A	uc001hty.4	-	2	1369	c.861G>T	c.(859-861)aaG>aaT	p.K287N	AGT_uc009xff.3_Missense_Mutation_p.K259N	NM_000029	NP_000020	P01019	ANGT_HUMAN	Homo sapiens angiotensinogen (serpin peptidase inhibitor, clade A, member 8) (AGT), mRNA.	287					G-protein signaling, coupled to cGMP nucleotide second messenger|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|blood vessel remodeling|cell-cell signaling|cellular lipid metabolic process|kidney development|low-density lipoprotein particle remodeling|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of NAD(P)H oxidase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of activation of JAK2 kinase activity|positive regulation of apoptosis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of cardiac muscle hypertrophy|positive regulation of cholesterol esterification|positive regulation of cytokine production|positive regulation of endothelial cell migration|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription, DNA-dependent|regulation of proteolysis|regulation of renal output by angiotensin|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|response to muscle activity involved in regulation of muscle adaptation	extracellular space|soluble fraction	acetyltransferase activator activity|growth factor activity|hormone activity|serine-type endopeptidase inhibitor activity|type 1 angiotensin receptor binding|type 2 angiotensin receptor binding			endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|pancreas(1)|prostate(5)	25	Breast(184;0.0735)|Ovarian(103;0.183)	all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	Aliskiren(DB01258)|Atorvastatin(DB01076)|Cilazapril(DB01340)|Irbesartan(DB01029)|Lisinopril(DB00722)|Ouabain(DB01092)|Simvastatin(DB00641)	AGCCCTTCATCTTCCCTGAAA	0.607000														31			14		4.36969e-10	5.24943e-10	1	1	0
SLC9A2	6549	broad.mit.edu	37	2	103317600	103317600	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:103317600T>C	uc002tca.3	+	7	1800	c.1658T>C	c.(1657-1659)gTa>gCa	p.V553A		NM_003048	NP_003039	Q9UBY0	SL9A2_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 2 (SLC9A2), mRNA.	553						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						TCAAGTATTGTATCTTTATAT	0.323000														28			26		0	0	1	0	0
NOSTRIN	115677	broad.mit.edu	37	2	169717336	169717336	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:169717336G>A	uc002ueg.3	+	13	1477	c.1211G>A	c.(1210-1212)cGg>cAg	p.R404Q	NOSTRIN_uc002uef.3_Missense_Mutation_p.R461Q|NOSTRIN_uc002ueh.3_Missense_Mutation_p.R326Q|NOSTRIN_uc010fpu.3_Missense_Mutation_p.R376Q|NOSTRIN_uc002uek.3_Missense_Mutation_p.R88Q	NM_001039724	NP_443178	Q8IVI9	NOSTN_HUMAN	Homo sapiens nitric oxide synthase trafficker (NOSTRIN), transcript variant 2, mRNA.	404					endocytosis|nitric oxide metabolic process|regulation of nitric-oxide synthase activity	cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane	protein binding			kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	9						AAAATATCTCGGCCTTTTTTA	0.368000														55			28		0	0	1	0	0
TMEM2	23670	broad.mit.edu	37	9	74300191	74300191	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:74300191G>A	uc011lsa.1	-	23	4614	c.4074C>T	c.(4072-4074)gaC>gaT	p.D1358D	TMEM2_uc011lrz.1_Silent_p.D351D|TMEM2_uc010mos.2_Silent_p.D1295D|TMEM2_uc011lsb.1_Non-coding_Transcript|TMEM2_uc004aik.2_Silent_p.D192D	NM_013390	NP_037522	Q9UHN6	TMEM2_HUMAN	Homo sapiens transmembrane protein 2 (TMEM2), transcript variant 1, mRNA.	1358						integral to membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		AACCATATTCGTCCAGCTGCA	0.463000														51			38		0	0	1	0	0
HK2	3099	broad.mit.edu	37	2	75113686	75113686	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:75113686G>A	uc002snd.3	+	14	4031	c.2105G>A	c.(2104-2106)cGg>cAg	p.R702Q		NM_000189	NP_000180	P52789	HXK2_HUMAN	Homo sapiens hexokinase 2 (HK2), mRNA.	702	Catalytic.				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity	p.R702L(2)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						GAAGAGGGGCGGATGTGTGTG	0.557000														51			29		0	0	1	0	0
SFXN1	94081	broad.mit.edu	37	5	174919203	174919203	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:174919203G>A	uc003mda.2	+	1	235	c.97G>A	c.(97-99)Gac>Aac	p.D33N	SFXN1_uc003mdb.1_5'UTR	NM_022754	NP_073591	Q9H9B4	SFXN1_HUMAN	Homo sapiens sideroflexin 1 (SFXN1), mRNA.	33					iron ion homeostasis	integral to membrane	cation transmembrane transporter activity|protein binding			endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(3)	15	all_cancers(89;0.00922)|Renal(175;0.000269)|Lung NSC(126;0.00515)|all_lung(126;0.00873)	Medulloblastoma(196;0.0399)|all_neural(177;0.0663)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			CACTGTAACTGACCCCAGGAA	0.388000														48			6		0	0	1	0	0
TTF2	8458	broad.mit.edu	37	1	117626696	117626696	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:117626696C>T	uc001egy.3	+	10	1980	c.1960C>T	c.(1960-1962)Cat>Tat	p.H654Y		NM_003594	NP_003585	Q9UNY4	TTF2_HUMAN	Homo sapiens transcription termination factor, RNA polymerase II (TTF2), mRNA.	654	Helicase ATP-binding.				RNA splicing|mRNA processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	cytoplasm|spliceosomal complex|transcription elongation factor complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		CTCCCTGATCCATCATTGGAA	0.443000														93			8		0	0	1	0	0
TAS2R19	259294	broad.mit.edu	37	12	11174713	11174713	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:11174713A>C	uc010shj.2	-	0	458	c.458T>G	c.(457-459)gTg>gGg	p.V153G	PRH1_uc001qzb.4_Intron|TAS2R14_uc021qve.1_Intron|PRH1_uc021qvg.1_Intron|PRB4_uc001qzf.1_Intron|TAS2R14_uc001qzj.3_Intron	NM_176888	NP_795369	P59542	T2R19_HUMAN	Homo sapiens taste receptor, type 2, member 19 (TAS2R19), mRNA.	153					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						TTTTGTCCACACTCTCTCATC	0.388000														68			44		0	0	1	0	0
SLCO1A2	6579	broad.mit.edu	37	12	21427475	21427475	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:21427475G>A	uc001rer.3	-	12	1972	c.1721C>T	c.(1720-1722)aCa>aTa	p.T574I	SLCO1A2_uc010siq.2_Missense_Mutation_p.T442I|SLCO1A2_uc001res.3_Missense_Mutation_p.T574I|SLCO1A2_uc010sio.2_Missense_Mutation_p.T442I|SLCO1A2_uc010sip.2_Missense_Mutation_p.T442I	NM_021094	NP_602307	P46721	SO1A2_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1A2 (SLCO1A2), transcript variant 2, mRNA.	574					bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48						GTGTAAACATGTGGAATCCAT	0.358000														54			4		0	0	1	0	0
SGK223	157285	broad.mit.edu	37	8	8235357	8235357	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:8235357C>T	uc003wsh.4	-	1	562	c.562G>A	c.(562-564)Gtg>Atg	p.V188M		NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN	Homo sapiens homolog of rat pragma of Rnd2 (SGK223), mRNA.	188							ATP binding|non-membrane spanning protein tyrosine kinase activity										TCTTTGTGCACAGCCTTCTCC	0.602000														86			7		0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39763358	39763358	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:39763358T>C	uc021olt.1	+	19	2489	c.2437T>C	c.(2437-2439)Tat>Cat	p.Y813H	MACF1_uc021ols.1_Missense_Mutation_p.Y813H|MACF1_uc001cdc.2_Missense_Mutation_p.Y813H|MACF1_uc001cda.1_Missense_Mutation_p.Y721H|MACF1_uc009vvq.1_5'Flank|MACF1_uc001cdb.1_5'Flank	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	813					Golgi to plasma membrane protein transport|Wnt receptor signaling pathway|cell cycle arrest|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|wound healing	Golgi apparatus|microtubule|ruffle membrane	ATPase activity|actin filament binding|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TAAACGAAAATATTCCTGTGA	0.473000														49			26		0	0	1	0	0
DMC1	11144	broad.mit.edu	37	22	38963608	38963608	+	Missense_Mutation	SNP	G	T	T	rs139861590		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:38963608G>T	uc003avz.1	-	2	251	c.76C>A	c.(76-78)Ctg>Atg	p.L26M	DMC1_uc011anv.1_Missense_Mutation_p.L26M|DMC1_uc003awa.1_Missense_Mutation_p.L26M	NM_007068	NP_008999	Q14565	DMC1_HUMAN	Homo sapiens DMC1 dosage suppressor of mck1 homolog, meiosis-specific homologous recombination (yeast) (DMC1), mRNA.	26					reciprocal meiotic recombination	condensed nuclear chromosome	ATP binding|DNA binding|DNA-dependent ATPase activity|protein binding			large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11	Melanoma(58;0.0286)					TTCTGTAACAGGTCAATATCT	0.333000								Homologous recombination						28			19		2.54575e-18	3.26134e-18	1	1	0
SAFB2	9667	broad.mit.edu	37	19	5590372	5590372	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:5590372G>A	uc002mcd.3	-	17	2654	c.2442C>T	c.(2440-2442)caC>caT	p.H814H		NM_014649	NP_055464	Q14151	SAFB2_HUMAN	Homo sapiens scaffold attachment factor B2 (SAFB2), mRNA.	814	Gly-rich.|Interacts with SAFB1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|RNA binding|nucleotide binding|protein binding			endometrium(3)|kidney(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)		AGTCCCGGCCGTGGCGCTCTG	0.677000														19			6		0	0	1	0	0
PDPR	55066	broad.mit.edu	37	16	70177557	70177557	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:70177557C>T	uc002eyf.1	+	13	2707	c.1750C>T	c.(1750-1752)Cgc>Tgc	p.R584C	CLEC18A_uc002exy.3_Intron|PDPR_uc010vlr.1_Missense_Mutation_p.R484C|PDPR_uc002eyg.1_Missense_Mutation_p.R312C|PDPR_uc002eyh.2_5'Flank|PDPR_uc010vls.1_5'Flank	NM_017990	NP_060460	Q8NCN5	PDPR_HUMAN	Homo sapiens pyruvate dehydrogenase phosphatase regulatory subunit (PDPR), mRNA.	584					glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	aminomethyltransferase activity|oxidoreductase activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33				BRCA - Breast invasive adenocarcinoma(221;0.124)		ACTGAACAAGCGCAGGTGAGA	0.557000														30			4		0	0	1	0	0
FLNC	2318	broad.mit.edu	37	7	128496579	128496579	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:128496579G>T	uc003vnz.4	+	43	7468	c.7259G>T	c.(7258-7260)gGg>gTg	p.G2420V	FLNC_uc003voa.4_Missense_Mutation_p.G2387V	NM_001458	NP_001449	Q14315	FLNC_HUMAN	Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.	2420	Interaction with INPPL1.				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	p.T2419T(1)		biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CAGGAGACGGGGCTCAAGGTG	0.657000														94			21		9.57634e-11	1.16131e-10	1	1	0
CXorf66	347487	broad.mit.edu	37	X	139038581	139038581	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:139038581C>T	uc004fbb.3	-	2	582	c.560G>A	c.(559-561)aGc>aAc	p.S187N		NM_001013403	NP_001013421	Q5JRM2	CX066_HUMAN	Homo sapiens chromosome X open reading frame 66 (CXorf66), mRNA.	187						integral to membrane				breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|skin(1)|stomach(1)	26						TTTTTCTAGGCTGCCTTTCTT	0.403000														233			25		0	0	1	0	0
CTIF	9811	broad.mit.edu	37	18	46284706	46284706	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:46284706T>C	uc002ldd.3	+	8	1360	c.1001T>C	c.(1000-1002)aTc>aCc	p.I334T	CTIF_uc002ldc.3_Missense_Mutation_p.I334T|CTIF_uc002lde.4_5'Flank	NM_001142397	NP_001135869	O43310	CTIF_HUMAN	Homo sapiens CBP80/20-dependent translation initiation factor (CTIF), transcript variant 2, mRNA.	334					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational initiation	perinuclear region of cytoplasm	protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	31						CCCGAGCGCATCGGGGAGCGG	0.552000														161			90		0	0	1	0	0
CPQ	10404	broad.mit.edu	37	8	97847315	97847315	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:97847315C>T	uc003yhw.3	+	2	714	c.548C>T	c.(547-549)aCg>aTg	p.T183M	CPQ_uc010mbe.2_Missense_Mutation_p.T183M	NM_016134	NP_057218	Q9Y646	PGCP_HUMAN	Homo sapiens plasma glutamate carboxypeptidase (PGCP), mRNA.	183					peptide metabolic process|proteolysis	cytoplasm|extracellular space	metal ion binding|metallocarboxypeptidase activity	p.T183M(1)									TACTCAAGGACGGTGCAATAC	0.522000														39			17		0	0	1	0	0
ACPL2	92370	broad.mit.edu	37	3	140997342	140997342	+	Splice_Site	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:140997342G>T	uc003etu.3	+	5	537	c.238_splice	c.e5+1	p.G80_splice	ACPL2_uc003etv.3_Splice_Site_p.G80_splice|ACPL2_uc011bna.2_Splice_Site_p.G42_splice|ACPL2_uc011bnb.2_Splice_Site_p.G63_splice	NM_152282	NP_689495	Q8TE99	ACPL2_HUMAN	Homo sapiens acid phosphatase-like 2 (ACPL2), transcript variant 1, mRNA.	80						extracellular region	acid phosphatase activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(2)	23						CAGCATGGAAGGTAGGCCTGA	0.567000														60			4		0.014758	0.0151755	1	1	0
ARID1A	8289	broad.mit.edu	37	1	27056262	27056262	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:27056262C>T	uc001bmv.1	+	1	1631	c.1258C>T	c.(1258-1260)Cag>Tag	p.Q420*	ARID1A_uc001bmt.1_Nonsense_Mutation_p.Q420*|ARID1A_uc001bmu.1_Nonsense_Mutation_p.Q420*|ARID1A_uc001bmw.1_Nonsense_Mutation_p.Q37*	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	420					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GTACCCAGGGCAGCCATACGG	0.627000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""									34			21		0	0	1	0	0
SCRIB	23513	broad.mit.edu	37	8	144893380	144893380	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:144893380C>T	uc003yzp.1	-	9	1049	c.1042G>A	c.(1042-1044)Gcc>Acc	p.A348T	SCRIB_uc003yzo.1_Missense_Mutation_p.A348T	NM_015356	NP_056171	Q14160	SCRIB_HUMAN	Homo sapiens scribbled homolog (Drosophila) (SCRIB), transcript variant 2, mRNA.	348	Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	Scrib-APC-beta-catenin complex|cell-cell adherens junction	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			GGCAGGACGGCCAGGCGGTTG	0.687000														5			8		0	0	1	0	0
SYT6	148281	broad.mit.edu	37	1	114680430	114680430	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:114680430G>A	uc021osa.1	-	2	836	c.758C>T	c.(757-759)gCt>gTt	p.A253V	SYT6_uc021orz.1_Missense_Mutation_p.A168V|SYT6_uc001eev.3_Missense_Mutation_p.A168V	NM_001253772	NP_001240701	Q5T7P8	SYT6_HUMAN	Homo sapiens synaptotagmin VI (SYT6), transcript variant 1, mRNA.	253	C2 1.				acrosomal vesicle exocytosis	cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane	clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity			central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAGGTCAAAAGCCTTCAGGAT	0.547000														64			31		0	0	1	0	0
FBN1	2200	broad.mit.edu	37	15	48802279	48802279	+	Missense_Mutation	SNP	G	A	A	rs141551765	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:48802279G>A	uc001zwx.2	-	13	2071	c.1676C>T	c.(1675-1677)gCg>gTg	p.A559V		NM_000138	NP_000129	P35555	FBN1_HUMAN	Homo sapiens fibrillin 1 (FBN1), mRNA.	559	EGF-like 8; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		ATGAAAGCCCGCATTACACAC	0.408000														55			16		0	0	1	0	0
USP29	57663	broad.mit.edu	37	19	57641354	57641354	+	Silent	SNP	T	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:57641354T>A	uc002qny.3	+	3	1667	c.1311T>A	c.(1309-1311)atT>atA	p.I437I	USP29_uc021vci.1_Silent_p.I437I	NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN	Homo sapiens ubiquitin specific peptidase 29 (USP29), mRNA.	437					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TCTCCCTTATTTGTAAAGCTT	0.398000														132			16		0	0	1	0	0
ZNF860	344787	broad.mit.edu	37	3	32030987	32030987	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:32030987A>G	uc011axg.2	+	1	965	c.416A>G	c.(415-417)gAc>gGc	p.D139G	ZNF860_uc021wuv.1_Missense_Mutation_p.D139G	NM_001137674	NP_001131146	A6NHJ4	ZN860_HUMAN	Homo sapiens zinc finger protein 860 (ZNF860), mRNA.	139					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|lung(4)|ovary(1)	8						GGTAGCACCGACAGATATGAT	0.393000														47			27		0	0	1	0	0
CREB3L2	64764	broad.mit.edu	37	7	137569746	137569746	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:137569746G>T	uc003vtw.3	-	9	1661	c.1265C>A	c.(1264-1266)tCc>tAc	p.S422Y	CREB3L2_uc003vtx.2_Missense_Mutation_p.S422Y|CREB3L2_uc003vtv.3_Missense_Mutation_p.S359Y	NM_194071	NP_919047	Q70SY1	CR3L2_HUMAN	Homo sapiens cAMP responsive element binding protein 3-like 2 (CREB3L2), transcript variant 1, mRNA.	422					chondrocyte differentiation|positive regulation of transcription, DNA-dependent|response to endoplasmic reticulum stress|response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	cAMP response element binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		FUS/CREB3L2(158)	breast(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						CTTACCCACGGAGGCTGTGTA	0.532000			T	FUS	fibromyxoid sarcoma									57			55		8.72158e-25	1.13991e-24	1	1	0
AUTS2	26053	broad.mit.edu	37	7	69364466	69364466	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:69364466G>A	uc003tvw.4	+	1	1239	c.504G>A	c.(502-504)atG>atA	p.M168I	AUTS2_uc003tvv.4_Missense_Mutation_p.M168I|AUTS2_uc003tvx.4_Missense_Mutation_p.M168I	NM_015570	NP_056385	Q8WXX7	AUTS2_HUMAN	Homo sapiens autism susceptibility candidate 2 (AUTS2), transcript variant 1, mRNA.	168										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		GAAAGAAAATGCCGAAGGCAC	0.502000														46			49		0	0	1	0	0
ACTRT2	140625	broad.mit.edu	37	1	2938692	2938692	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:2938692G>A	uc001ajz.3	+	0	647	c.442G>A	c.(442-444)Gcc>Acc	p.A148T		NM_080431	NP_536356	Q8TDY3	ACTT2_HUMAN	Homo sapiens actin-related protein T2 (ACTRT2), mRNA.	148						cytoplasm|cytoskeleton				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)		GGCTCTCTACGCCTCTGCCTG	0.617000														26			15		0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152647664	152647664	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:152647664G>A	uc021zhb.1	-	76	15283	c.15060C>T	c.(15058-15060)ggC>ggT	p.G5020G	SYNE1_uc003qot.4_Silent_p.G4949G|SYNE1_uc003qou.4_Silent_p.G5020G|SYNE1_uc010kiz.3_Silent_p.G775G	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	5020					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	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)		CTAGGCCATTGCCTGCCAGCT	0.458000										HNSCC(10;0.0054)				29			4		0	0	1	0	0
MDC1	9656	broad.mit.edu	37	6	30675488	30675488	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:30675488C>A	uc003nrg.4	-	7	3308	c.2868G>T	c.(2866-2868)caG>caT	p.Q956H	MDC1_uc003nrf.4_Intron|MDC1_uc011dmp.1_Intron	NM_014641	NP_055456	Q14676	MDC1_HUMAN	Homo sapiens mediator of DNA-damage checkpoint 1 (MDC1), mRNA.	956				Missing (in Ref. 2; CAH18685).	cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						CTTTCTGGTCCTGGCTCCCTC	0.622000								Other conserved DNA damage response genes						71			6		5.9392e-07	6.7814e-07	1	1	0
ITPRIP	85450	broad.mit.edu	37	10	106074250	106074250	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:106074250G>T	uc001kyf.3	-	2	2013	c.1560C>A	c.(1558-1560)ttC>ttA	p.F520L	ITPRIP_uc001kye.3_Missense_Mutation_p.F520L|ITPRIP_uc001kyg.3_Missense_Mutation_p.F520L|ITPRIP_uc021pxv.1_Missense_Mutation_p.F520L	NM_033397	NP_203755	Q8IWB1	IPRI_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor interacting protein (ITPRIP), mRNA.	520						plasma membrane				breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						GCATCTCATAGAAGGAGTCCA	0.562000														96			8		5.18039e-06	5.80246e-06	1	1	0
PPP1R9A	55607	broad.mit.edu	37	7	94915538	94915538	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:94915538C>A	uc003unp.3	+	12	3060	c.2778C>A	c.(2776-2778)gaC>gaA	p.D926E	PPP1R9A_uc010lfj.3_Missense_Mutation_p.D1210E|PPP1R9A_uc011kif.2_Missense_Mutation_p.D1132E|PPP1R9A_uc003unq.3_Missense_Mutation_p.D1150E|PPP1R9A_uc011kig.2_Missense_Mutation_p.D926E|PPP1R9A_uc003unr.3_Missense_Mutation_p.D223E	NM_017650	NP_060120	Q9ULJ8	NEB1_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 9A (PPP1R9A), transcript variant 4, mRNA.	926	Interacts with TGN38 (By similarity).					cell junction|synapse|synaptosome	actin binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			TCAATGATGACTTCAGTCCCA	0.453000										HNSCC(28;0.073)				17			27		6.32553e-13	7.83728e-13	1	1	0
FOXN2	3344	broad.mit.edu	37	2	48573609	48573609	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:48573609T>C	uc002rwh.1	+	2	571	c.256T>C	c.(256-258)Tat>Cat	p.Y86H		NM_002158	NP_002149	P32314	FOXN2_HUMAN	Homo sapiens forkhead box N2 (FOXN2), mRNA.	86					embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA 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			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.0272)|LUSC - Lung squamous cell carcinoma(58;0.036)			TAGTCCATTGTATGACATAGA	0.433000														49			32		0	0	1	0	0
DIP2C	22982	broad.mit.edu	37	10	465045	465045	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:465045C>T	uc001ifp.3	-	5	789	c.699G>A	c.(697-699)gcG>gcA	p.A233A		NM_014974	NP_055789	Q9Y2E4	DIP2C_HUMAN	Homo sapiens DIP2 disco-interacting protein 2 homolog C (Drosophila) (DIP2C), mRNA.	233						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		CGTACTTGGGCGCTGTCCGGG	0.557000														40			15		0	0	1	0	0
SULT1C3	442038	broad.mit.edu	37	2	108863776	108863776	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:108863776C>A	uc010ywo.2	+	0	126	c.126C>A	c.(124-126)ttC>ttA	p.F42L		NM_001008743	NP_001008743	Q6IMI6	ST1C3_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 1C, member 3 (SULT1C3), mRNA.	42						cytoplasm	alcohol sulfotransferase activity			breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4)	16						TATGTAATTTCCAAGCCAAGC	0.358000														47			32		8.16721e-17	1.03702e-16	1	1	0
MPP2	4355	broad.mit.edu	37	17	41957259	41957259	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:41957259C>T	uc010win.1	-	9	1430	c.827G>A	c.(826-828)cGc>cAc	p.R276H	MPP2_uc002ien.1_Missense_Mutation_p.R432H|MPP2_uc010wim.1_Missense_Mutation_p.R404H|MPP2_uc002ieo.1_Missense_Mutation_p.R415H|MPP2_uc010wio.1_Missense_Mutation_p.R404H|MPP2_uc010wip.1_Missense_Mutation_p.R460H			Q14168	MPP2_HUMAN	Homo sapiens membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2) (MPP2), mRNA.	439	SH3.				signal transduction	cell surface|integral to plasma membrane|membrane fraction	guanylate kinase activity			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.00314)		BRCA - Breast invasive adenocarcinoma(366;0.12)		CTCCAGGTAGCGCCCAGCACG	0.627000											OREG0024443	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		37			30		0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152771912	152771912	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:152771912G>A	uc021zhb.1	-	24	3466	c.3243C>T	c.(3241-3243)atC>atT	p.I1081I	SYNE1_uc003qot.4_Silent_p.I1088I|SYNE1_uc003qou.4_Silent_p.I1081I|SYNE1_uc010kjb.1_Silent_p.I1064I|SYNE1_uc003qow.3_Silent_p.I376I|SYNE1_uc003qox.1_Silent_p.I597I	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	1081					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	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)		AGAGTTCCTCGATGAGCTGTA	0.463000										HNSCC(10;0.0054)				199			21		0	0	1	0	0
TMC5	79838	broad.mit.edu	37	16	19492748	19492748	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:19492748G>T	uc002dgc.4	+	14	3073	c.2324G>T	c.(2323-2325)aGg>aTg	p.R775M	TMC5_uc010vaq.2_Missense_Mutation_p.R723M|TMC5_uc002dgb.4_Missense_Mutation_p.R775M|TMC5_uc010var.2_Missense_Mutation_p.R775M|TMC5_uc002dgd.1_Missense_Mutation_p.R529M|TMC5_uc002dge.4_Missense_Mutation_p.R529M|TMC5_uc002dgf.4_Missense_Mutation_p.R458M|TMC5_uc002dgg.4_Missense_Mutation_p.R416M	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN	Homo sapiens transmembrane channel-like 5 (TMC5), transcript variant 1, mRNA.	775						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						GACATTGCCAGGAACGTTCTA	0.448000														94			43		6.4771e-29	8.52848e-29	1	1	0
SYT6	148281	broad.mit.edu	37	1	114680571	114680571	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:114680571C>T	uc021osa.1	-	2	695	c.617G>A	c.(616-618)cGc>cAc	p.R206H	SYT6_uc021orz.1_Missense_Mutation_p.R121H|SYT6_uc001eev.3_Missense_Mutation_p.R121H	NM_001253772	NP_001240701	Q5T7P8	SYT6_HUMAN	Homo sapiens synaptotagmin VI (SYT6), transcript variant 1, mRNA.	206					acrosomal vesicle exocytosis	cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane	clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity			central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGGCTTGATGCGGCCAATGCT	0.572000														26			18		0	0	1	0	0
EXOG	9941	broad.mit.edu	37	3	38537902	38537902	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:38537902G>A	uc003cih.2	+	0	140	c.44G>A	c.(43-45)cGt>cAt	p.R15H	EXOG_uc010hhg.3_Non-coding_Transcript|EXOG_uc010hhf.2_5'UTR|EXOG_uc003cii.2_5'UTR|EXOG_uc011ayq.1_Missense_Mutation_p.R15H|EXOG_uc003cij.2_5'UTR|EXOG_uc010hhd.2_5'UTR|EXOG_uc010hhe.2_5'UTR|EXOG_uc003cik.2_5'UTR	NM_005107	NP_005098	Q9Y2C4	EXOG_HUMAN	Homo sapiens endo/exonuclease (5'-3'), endonuclease G-like (EXOG), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	15						mitochondrial inner membrane	endonuclease activity|metal ion binding|nucleic acid binding			central_nervous_system(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	17						GGTTCCCGTCGTTTTCTGAGC	0.682000											OREG0015479	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		16			18		0	0	1	0	0
SNW1	22938	broad.mit.edu	37	14	78184425	78184425	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:78184425C>A	uc010tvn.1	-	12	1724	c.1697G>T	c.(1696-1698)aGg>aTg	p.R566M	SNW1_uc001xuf.3_3'UTR|SNW1_uc010tvm.2_3'UTR			Q13573	SNW1_HUMAN	Homo sapiens SNW domain containing 1 (SNW1), mRNA.	0					negative regulation of transcription, DNA-dependent|nuclear mRNA splicing, via spliceosome|regulation of transcription from RNA polymerase II promoter	catalytic step 2 spliceosome|nucleoplasm	Notch binding			NS(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		TTGGAGAGACCTGTGCCTATT	0.468000														127			11		9.31168e-06	1.03939e-05	1	1	0
ZCCHC6	79670	broad.mit.edu	37	9	88940264	88940264	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:88940264G>A	uc004aou.3	-	11	1912	c.1774C>T	c.(1774-1776)Cgc>Tgc	p.R592C	ZCCHC6_uc011ltf.2_Non-coding_Transcript|ZCCHC6_uc004aoq.3_Missense_Mutation_p.R592C|ZCCHC6_uc004aot.3_Missense_Mutation_p.R469C|ZCCHC6_uc004aor.3_Non-coding_Transcript|ZCCHC6_uc004aos.3_Non-coding_Transcript	NM_001185059	NP_078893	Q5VYS8	TUT7_HUMAN	Homo sapiens zinc finger, CCHC domain containing 6 (ZCCHC6), transcript variant 2, mRNA.	592	PAP-associated 1.				RNA 3'-end processing		RNA uridylyltransferase activity|nucleic acid binding|zinc ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						ATGGCAATGCGCTTTTTGGGC	0.373000														65			31		0	0	1	0	0
FAM123B	139285	broad.mit.edu	37	X	63410757	63410757	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:63410757G>A	uc022byb.1	-	0	2410	c.2410C>T	c.(2410-2412)Cct>Tct	p.P804S	FAM123B_uc004dvo.3_Missense_Mutation_p.P804S	NM_152424	NP_689637	Q5JTC6	F123B_HUMAN	Homo sapiens family with sequence similarity 123B (FAM123B), mRNA.	804					Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane		p.0?(67)		NS(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(132)|large_intestine(35)|liver(1)|lung(33)|ovary(5)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	225						ACCATGGGAGGCAGCTCAGGG	0.517000														19			13		0	0	1	0	0
OR5F1	338674	broad.mit.edu	37	11	55761475	55761475	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:55761475C>T	uc010riv.2	-	0	627	c.627G>A	c.(625-627)ggG>ggA	p.G209G		NM_003697	NP_003688	O95221	OR5F1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily F, member 1 (OR5F1), mRNA.	209					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					CAAGCAGAGTCCCCACAATAT	0.473000														34			16		0	0	1	0	0
TG	7038	broad.mit.edu	37	8	133899498	133899498	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:133899498G>T	uc003ytw.3	+	8	1922	c.1881G>T	c.(1879-1881)gaG>gaT	p.E627D		NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	627	Thyroglobulin type-1 5.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GAAGCTATGAGGATGTCCAAT	0.522000														74			7		1.06961e-07	1.2399e-07	1	1	0
NTHL1	4913	broad.mit.edu	37	16	2094713	2094713	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:2094713G>A	uc002col.1	-	2	486	c.467C>T	c.(466-468)gCg>gTg	p.A156V	TCRBV20S1_uc021tak.1_Intron	NM_002528	NP_002519	P78549	NTHL1_HUMAN	Homo sapiens nth endonuclease III-like 1 (E. coli) (NTHL1), mRNA.	156					depyrimidination|nucleotide-excision repair, DNA incision, 5'-to lesion	nucleoplasm	4 iron, 4 sulfur cluster binding|double-stranded DNA binding|endonuclease activity|metal ion binding|oxidized pyrimidine base lesion DNA N-glycosylase activity|protein binding			lung(1)	1						CAGGCCCCGCGCCCGCAGTCG	0.642000								Base excision repair (BER), DNA glycosylases						11			7		0	0	1	0	0
DEGS2	123099	broad.mit.edu	37	14	100616003	100616003	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:100616003G>T	uc001ygx.2	-	1	215	c.127C>A	c.(127-129)Ctc>Atc	p.L43I		NM_206918	NP_996801	Q6QHC5	DEGS2_HUMAN	Homo sapiens delta(4)-desaturase, sphingolipid 2 (DEGS2), mRNA.	43					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	sphingosine hydroxylase activity			breast(1)|lung(6)|skin(1)	8		Melanoma(154;0.212)				GCCCACTTGAGGCGCGGGTCT	0.697000														17			5		0.000602214	0.000641151	1	1	0
SACS	26278	broad.mit.edu	37	13	23912848	23912848	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:23912848C>T	uc001uon.2	-	9	5756	c.5167G>A	c.(5167-5169)Gca>Aca	p.A1723T	SACS_uc001uoo.2_Missense_Mutation_p.A1576T|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA.	1723					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|Hsp70 protein binding|chaperone binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		GTGTTCAATGCTTTGGAAGAG	0.363000														39			18		0	0	1	0	0
CDS2	8760	broad.mit.edu	37	20	5159552	5159552	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:5159552G>A	uc002wls.3	+	4	811	c.479G>A	c.(478-480)cGg>cAg	p.R160Q	CDS2_uc002wlr.2_Missense_Mutation_p.R82Q|CDS2_uc002wlw.3_Missense_Mutation_p.R40Q|CDS2_uc002wlv.3_Missense_Mutation_p.R62Q|CDS2_uc010zqv.2_5'UTR	NM_003818	NP_003809	O95674	CDS2_HUMAN	Homo sapiens CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 2 (CDS2), mRNA.	160					phospholipid biosynthetic process	integral to membrane|mitochondrial inner membrane	phosphatidate cytidylyltransferase activity	p.L159V(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|stomach(1)	14						GAGCCTTTGCGGATTCTCAGT	0.393000														79			42		0	0	1	0	0
NUB1	51667	broad.mit.edu	37	7	151065934	151065934	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:151065934C>T	uc003wjx.3	+	10	1297	c.1281C>T	c.(1279-1281)aaC>aaT	p.N427N	NUB1_uc003wjw.3_Silent_p.N403N|AK055458_uc003wjz.1_5'Flank	NM_001243351	NP_001230280	Q9Y5A7	NUB1_HUMAN	Homo sapiens negative regulator of ubiquitin-like proteins 1 (NUB1), transcript variant 1, mRNA.	403	NEDD8-binding 1.|UBA 2.				positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|response to interferon-gamma|response to tumor necrosis factor|ubiquitin-dependent protein catabolic process	nucleus	protein binding			endometrium(1)|large_intestine(7)|lung(3)	11			OV - Ovarian serous cystadenocarcinoma(82;0.00569)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)		GTGATGGGAACGTGGATCATG	0.473000														76			29		0	0	1	0	0
BHLHB9	80823	broad.mit.edu	37	X	102005007	102005007	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:102005007A>G	uc022cbi.1	+	0	1084	c.1084A>G	c.(1084-1086)Aac>Gac	p.N362D	BHLHB9_uc010nog.3_Missense_Mutation_p.N362D|BHLHB9_uc011mrq.2_Missense_Mutation_p.N362D|BHLHB9_uc011mrr.2_Missense_Mutation_p.N362D|BHLHB9_uc011mrs.2_Missense_Mutation_p.N362D|BHLHB9_uc011mrt.2_Missense_Mutation_p.N362D|BHLHB9_uc004ejo.3_Missense_Mutation_p.N362D|BHLHB9_uc011mru.2_Missense_Mutation_p.N362D|BHLHB9_uc011mrv.2_Missense_Mutation_p.N362D	NM_030639	NP_085142	Q6PI77	BHLH9_HUMAN	Homo sapiens basic helix-loop-helix domain containing, class B, 9 (BHLHB9), transcript variant 2, mRNA.	362						cytoplasm|nucleus	binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						AGAGTTTATTAACGAAGTAGG	0.388000														62			6		0	0	1	0	0
SIGLEC8	27181	broad.mit.edu	37	19	51961460	51961460	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:51961460G>A	uc002pwt.3	-	0	249	c.182C>T	c.(181-183)cCa>cTa	p.P61L	SIGLEC8_uc010yda.2_Missense_Mutation_p.P61L|SIGLEC8_uc002pwu.3_Non-coding_Transcript|SIGLEC8_uc010eox.2_Missense_Mutation_p.P61L	NM_014442	NP_055257	Q9NYZ4	SIGL8_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 8 (SIGLEC8), mRNA.	61	Ig-like V-type.				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		GCCATGAACTGGGTCAGAGTC	0.602000														43			33		0	0	1	0	0
UGT2A1	10941	broad.mit.edu	37	4	70512749	70512749	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:70512749G>T	uc011caq.2	-	1	730	c.614C>A	c.(613-615)tCt>tAt	p.S205Y	UGT2A1_uc010ihu.3_Missense_Mutation_p.S205Y|UGT2A1_uc003hem.4_Missense_Mutation_p.S205Y|UGT2A1_uc010iht.3_Missense_Mutation_p.S205Y	NM_001252274	NP_001239203	Q9Y4X1	UD2A1_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus (UGT2A1), transcript variant 2, mRNA.	205					detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						GTCAGTGAAAGACATTTGGTC	0.408000														64			7		5.18039e-06	5.80246e-06	1	1	0
FAM123A	219287	broad.mit.edu	37	13	25745123	25745123	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:25745123G>A	uc001uqb.3	-	0	735	c.635C>T	c.(634-636)gCg>gTg	p.A212V	FAM123A_uc001uqa.3_Missense_Mutation_p.A212V|FAM123A_uc001uqc.3_Missense_Mutation_p.A212V	NM_152704	NP_689917	Q8N7J2	F123A_HUMAN	Homo sapiens family with sequence similarity 123A (FAM123A), transcript variant 1, mRNA.	212										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		cgcggccTCCGCCTTGGCCCG	0.726000														7			4		0	0	1	0	0
TNKS2	80351	broad.mit.edu	37	10	93619382	93619382	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:93619382C>T	uc001khp.3	+	24	3555	c.3258C>T	c.(3256-3258)gaC>gaT	p.D1086D		NM_025235	NP_079511	Q9H2K2	TNKS2_HUMAN	Homo sapiens tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2 (TNKS2), mRNA.	1086	PARP catalytic.				Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination	Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm	NAD+ ADP-ribosyltransferase activity|protein binding			biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				TTCACAAAGACAGATCTTGTT	0.373000														43			17		0	0	1	0	0
LRP5	4041	broad.mit.edu	37	11	68216504	68216504	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:68216504C>T	uc001ont.3	+	22	4889	c.4814C>T	c.(4813-4815)cCg>cTg	p.P1605L	LRP5_uc009ysg.3_Missense_Mutation_p.P1015L	NM_002335	NP_002326	O75197	LRP5_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 5 (LRP5), mRNA.	1605	Pro-rich.				Wnt receptor signaling pathway involved in dorsal/ventral axis specification|adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CATCTCTTCCCGCCCCCTCCG	0.617000														31			20		0	0	1	0	0
CCDC82	79780	broad.mit.edu	37	11	96106557	96106557	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:96106557A>C	uc001pfx.4	-	5	1280	c.1066T>G	c.(1066-1068)Ttt>Gtt	p.F356V	CCDC82_uc009ywp.3_Missense_Mutation_p.F356V|CCDC82_uc009ywr.3_Missense_Mutation_p.F356V	NM_024725	NP_079001	Q8N4S0	CCD82_HUMAN	Homo sapiens coiled-coil domain containing 82 (CCDC82), mRNA.	356							protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.154)		GTTCCCAGAAAAGATTCATCT	0.269000														41			46		0	0	1	0	0
ZNF251	90987	broad.mit.edu	37	8	145947656	145947656	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:145947656G>A	uc003zdv.4	-	4	1645	c.1389C>T	c.(1387-1389)tgC>tgT	p.C463C		NM_138367	NP_612376	Q9BRH9	ZN251_HUMAN	Homo sapiens zinc finger protein 251 (ZNF251), mRNA.	463					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1)	17	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)		CACATTCAACGCACTGGTAGG	0.517000														30			13		0	0	1	0	0
TRIM71	131405	broad.mit.edu	37	3	32927435	32927435	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:32927435G>A	uc003cff.3	+	2	1093	c.1030G>A	c.(1030-1032)Gag>Aag	p.E344K		NM_001039111	NP_001034200	Q2Q1W2	LIN41_HUMAN	Homo sapiens tripartite motif containing 71 (TRIM71), mRNA.	344					multicellular organismal development	cytoplasm	zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GCTGAGCATCGAGCAGGCCCA	0.498000														24			18		0	0	1	0	0
CENPF	1063	broad.mit.edu	37	1	214791928	214791928	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:214791928G>T	uc001hkm.3	+	3	546	c.372G>T	c.(370-372)gaG>gaT	p.E124D		NM_016343	NP_057427	P49454	CENPF_HUMAN	Homo sapiens centromere protein F, 350/400kDa (mitosin) (CENPF), mRNA.	124	Interaction with SNAP25 and required for localization to the cytoplasm (By similarity).				DNA replication|G2 phase of mitotic cell cycle|cell differentiation|cell division|cell proliferation|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		GTAAATCTGAGCTTGAAAGAA	0.403000														53			46		9.52127e-25	1.24415e-24	1	1	0
USH2A	7399	broad.mit.edu	37	1	215802181	215802181	+	Missense_Mutation	SNP	G	A	A	rs146892520	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:215802181G>A	uc001hku.1	-	70	15881	c.15494C>T	c.(15493-15495)gCc>gTc	p.A5165V		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	5165					maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GCCCATGATGGCTTCCCACAG	0.493000										HNSCC(13;0.011)				63			32		0	0	1	0	0
ZFP112	7771	broad.mit.edu	37	19	44840821	44840821	+	Nonsense_Mutation	SNP	T	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:44840821T>A	uc010xwy.2	-	3	362	c.244A>T	c.(244-246)Aag>Tag	p.K82*	ZFP112_uc010ejj.3_Nonsense_Mutation_p.K65*|ZFP112_uc002ozc.4_Nonsense_Mutation_p.K59*|ZFP112_uc010xwz.2_Nonsense_Mutation_p.K64*	NM_013380	NP_037512	Q9UJU3	ZF112_HUMAN	Homo sapiens zinc finger protein 112 homolog (mouse) (ZFP112), transcript variant 2, mRNA.	65					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(1)|lung(8)|ovary(3)|prostate(4)|skin(3)	41						ATCAAAAGCTTTTCTTCTCTC	0.463000														50			34		0	0	1	0	0
CACNA1S	779	broad.mit.edu	37	1	201052448	201052448	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:201052448C>T	uc001gvv.3	-	9	1462	c.1235G>A	c.(1234-1236)cGa>cAa	p.R412Q		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA.	412					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	CCTCCAATGTCGGCTGAGGGA	0.547000														53			44		0	0	1	0	0
immunoglobulin_heavy_chain	0	broad.mit.edu	37	14	107034966	107034966	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:107034966C>A	uc001ysz.3	-	1	143	c.114G>T	c.(112-114)aaG>aaT	p.K38N	abParts_uc021ser.1_Non-coding_Transcript					Human CLL-12 transcript of unrearranged immunoglobulin V(H)5 gene.																		TACAGGAGATCTTCAGAGACT	0.567000														16			7		5.18039e-06	5.80246e-06	1	1	0
SLK	9748	broad.mit.edu	37	10	105765355	105765355	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:105765355C>T	uc001kxo.1	+	9	2420	c.2386C>T	c.(2386-2388)Cgc>Tgc	p.R796C	SLK_uc001kxp.1_Missense_Mutation_p.R796C	NM_014720	NP_055535	Q9H2G2	SLK_HUMAN	Homo sapiens STE20-like kinase (SLK), mRNA.	796					apoptosis|nucleotide-excision repair	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity			kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		GAAGAAAACACGCAAATTTAT	0.333000														38			29		0	0	1	0	0
USP4	7375	broad.mit.edu	37	3	49365228	49365228	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49365228T>G	uc003cwq.2	-	2	330	c.251A>C	c.(250-252)aAa>aCa	p.K84T	USP4_uc003cwr.2_Missense_Mutation_p.K84T|USP4_uc021wxv.1_Missense_Mutation_p.K84T	NM_003363	NP_003354	Q13107	UBP4_HUMAN	Homo sapiens ubiquitin specific peptidase 4 (proto-oncogene) (USP4), transcript variant 1, mRNA.	84	DUSP.				negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process	lysosome|nucleus	adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		TAAGTGTTCTTTCAAGGTCTG	0.413000														60			12		0	0	1	0	0
HSP90B1	7184	broad.mit.edu	37	12	104335272	104335272	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:104335272G>A	uc001tkb.1	+	8	1282	c.1177G>A	c.(1177-1179)Gct>Act	p.A393T	HSP90B1_uc010swg.1_Missense_Mutation_p.A58T|HSP90B1_uc009zui.1_Intron	NM_003299	NP_003290	P14625	ENPL_HUMAN	Homo sapiens heat shock protein 90kDa beta (Grp94), member 1 (HSP90B1), mRNA.	393					ER-associated protein catabolic process|actin rod assembly|anti-apoptosis|cellular response to ATP|protein folding|protein transport|regulation of phosphoprotein phosphatase activity|response to hypoxia|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|melanosome|microsome|midbody|perinuclear region of cytoplasm	ATP binding|RNA binding|calcium ion binding|low-density lipoprotein particle receptor binding|protein phosphatase binding|unfolded protein binding|virion binding			central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4)	29					Rifabutin(DB00615)	ACCCACATCTGCTCCACGTGG	0.368000														107			10		0	0	1	0	0
MCCC2	64087	broad.mit.edu	37	5	70900290	70900290	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:70900290G>A	uc003kbs.4	+	5	757	c.619G>A	c.(619-621)Gca>Aca	p.A207T	MCCC2_uc010iyv.1_Missense_Mutation_p.A207T|MCCC2_uc003kbt.4_Non-coding_Transcript|MCCC2_uc003kbu.1_Missense_Mutation_p.A76T	NM_022132	NP_071415	Q9HCC0	MCCB_HUMAN	Homo sapiens methylcrotonoyl-CoA carboxylase 2 (beta) (MCCC2), nuclear gene encoding mitochondrial protein, mRNA.	207	Carboxyltransferase.				leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|methylcrotonoyl-CoA carboxylase activity			endometrium(2)|kidney(15)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	30		Lung NSC(167;0.000697)|Prostate(74;0.0107)|Ovarian(174;0.0175)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.04e-54)	Biotin(DB00121)	TAAAAATATTGCACAGGTAAT	0.378000														28			17		0	0	1	0	0
BDH1	622	broad.mit.edu	37	3	197249573	197249573	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:197249573C>T	uc003fxr.3	-	5	749	c.347G>A	c.(346-348)aGc>aAc	p.S116N	BDH1_uc003fxs.3_Missense_Mutation_p.S116N|BDH1_uc003fxu.3_Missense_Mutation_p.S116N	NM_203314	NP_976060	Q02338	BDH_HUMAN	Homo sapiens 3-hydroxybutyrate dehydrogenase, type 1 (BDH1), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	116				CS -> FR (in Ref. 1; AAA58352).	cellular lipid metabolic process|ketone body biosynthetic process|ketone body catabolic process	mitochondrial matrix	3-hydroxybutyrate dehydrogenase activity			endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11	all_cancers(143;3.35e-10)|Ovarian(172;0.0418)|Breast(254;0.0437)	Lung NSC(153;0.118)	Epithelial(36;3.52e-24)|all cancers(36;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-19)|LUSC - Lung squamous cell carcinoma(58;1.02e-06)|Lung(62;1.34e-06)	GBM - Glioblastoma multiforme(93;0.0977)	NADH(DB00157)	CTCTTCGCTGCTGCAGACATT	0.582000														34			20		0	0	1	0	0
VILL	50853	broad.mit.edu	37	3	38042993	38042993	+	Missense_Mutation	SNP	G	A	A	rs35351971	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:38042993G>A	uc003chj.3	+	11	1515	c.1229G>A	c.(1228-1230)cGt>cAt	p.R410H	VILL_uc003chl.3_Missense_Mutation_p.R410H|VILL_uc010hgu.3_Missense_Mutation_p.R240H	NM_015873	NP_056957	O15195	VILL_HUMAN	Homo sapiens villin-like (VILL), mRNA.	410					actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		GACCCCAAGCGTCATGGACAG	0.587000														24			19		0	0	1	0	0
ST3GAL2	6483	broad.mit.edu	37	16	70416789	70416789	+	Silent	SNP	G	A	A	rs143187183		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:70416789G>A	uc002eyw.2	-	4	2906	c.798C>T	c.(796-798)caC>caT	p.H266H	ST3GAL2_uc002eyx.2_Silent_p.H266H	NM_006927	NP_008858	Q16842	SIA4B_HUMAN	Homo sapiens ST3 beta-galactoside alpha-2,3-sialyltransferase 2 (ST3GAL2), mRNA.	266					amino sugar metabolic process	Golgi cisterna membrane|extracellular region|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)	11		Ovarian(137;0.0694)				TCCACCTGTCGTGGATATACT	0.552000														16			8		0	0	1	0	0
ADD2	119	broad.mit.edu	37	2	70919548	70919548	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:70919548G>A	uc021vjc.1	-	6	957	c.692C>T	c.(691-693)cCg>cTg	p.P231L	ADD2_uc010fds.2_Non-coding_Transcript|ADD2_uc002sgy.3_Missense_Mutation_p.P231L|ADD2_uc002sgz.3_Missense_Mutation_p.P231L|ADD2_uc010fdt.2_Missense_Mutation_p.P231L|ADD2_uc002shc.2_Missense_Mutation_p.P231L|ADD2_uc010fdu.2_Missense_Mutation_p.P247L	NM_001185054	NP_001608	P35612	ADDB_HUMAN	Homo sapiens adducin 2 (beta) (ADD2), transcript variant 5, mRNA.	231					actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	F-actin capping protein complex|cytoplasm|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						TGCTGTGGCCGGTGTGTGCAG	0.587000														10			3		0	0	1	0	0
SLC7A9	11136	broad.mit.edu	37	19	33355633	33355633	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:33355633G>A	uc002ntv.4	-	2	254	c.137C>T	c.(136-138)tCt>tTt	p.S46F	SLC7A9_uc002ntt.4_Intron|SLC7A9_uc002ntu.4_Missense_Mutation_p.S46F|SLC7A9_uc021usa.1_Missense_Mutation_p.S46F|SLC7A9_uc002ntw.4_Intron	NM_001126335	NP_055085	P82251	BAT1_HUMAN	Homo sapiens solute carrier family 7 (glycoprotein-associated amino acid transporter light chain, bo,+ system), member 9 (SLC7A9), transcript variant 2, mRNA.	46					blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	integral to plasma membrane	L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32	Esophageal squamous(110;0.137)				L-Cystine(DB00138)	GAAGATCCCAGAGCCAATGAT	0.632000														94			30		0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	144994814	144994814	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:144994814C>T	uc003zaf.1	-	31	9756	c.9586G>A	c.(9586-9588)Gaa>Aaa	p.E3196K	PLEC_uc003zab.1_Missense_Mutation_p.E3059K|PLEC_uc003zac.1_Missense_Mutation_p.E3063K|PLEC_uc003zad.2_Missense_Mutation_p.E3059K|PLEC_uc003zae.1_Missense_Mutation_p.E3027K|PLEC_uc003zag.1_Missense_Mutation_p.E3037K|PLEC_uc003zah.2_Missense_Mutation_p.E3045K|PLEC_uc003zaj.2_Missense_Mutation_p.E3086K	NM_201380	NP_958782	Q15149	PLEC_HUMAN	Homo sapiens plectin (PLEC), transcript variant 6, mRNA.	3196	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GCCTGGGCTTCCAACAGGGCC	0.662000														24			8		0	0	1	0	0
INPP5F	22876	broad.mit.edu	37	10	121582687	121582687	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:121582687C>T	uc001leo.3	+	17	2353	c.2137C>T	c.(2137-2139)Cgt>Tgt	p.R713C	INPP5F_uc001lep.3_Missense_Mutation_p.R103C	NM_014937	NP_055752	Q9Y2H2	SAC2_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase F (INPP5F), transcript variant 1, mRNA.	713							phosphoric ester hydrolase activity			breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		AGCTGTAATGCGTAATCCTGA	0.408000														39			24		0	0	1	0	0
KNTC1	9735	broad.mit.edu	37	12	123024244	123024244	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:123024244G>A	uc001ucv.3	+	4	551	c.388G>A	c.(388-390)Gat>Aat	p.D130N	KNTC1_uc010taf.2_Missense_Mutation_p.D130N	NM_014708	NP_055523	P50748	KNTC1_HUMAN	Homo sapiens kinetochore associated 1 (KNTC1), mRNA.	130					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		GAAAGCTAACGATGAAAATCG	0.274000														2			5		0	0	1	0	0
PRHOXNB	646625	broad.mit.edu	37	13	28562669	28562669	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:28562669G>A	uc010aan.1	-	0	106	c.106C>T	c.(106-108)Cgg>Tgg	p.R36W		NM_001105577	NP_001099047	A6NGE7	URAD_HUMAN	Homo sapiens parahox cluster neighbor (PRHOXNB), mRNA.	36					allantoin biosynthetic process|purine base metabolic process	peroxisome	carboxy-lyase activity			large_intestine(1)|lung(1)|stomach(1)	3	all_cancers(110;0.12)|all_hematologic(3;0.0119)|Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0161)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0407)|all cancers(112;0.0491)|OV - Ovarian serous cystadenocarcinoma(117;0.199)		GAGAATGGCCGCTGGGACCAA	0.468000														18			19		0	0	1	0	0
KLHDC8B	200942	broad.mit.edu	37	3	49210220	49210220	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49210220C>T	uc003cwh.3	+	1	253	c.18C>T	c.(16-18)ggC>ggT	p.G6G	KLHDC8B_uc003cwi.1_5'Flank	NM_173546	NP_775817	Q8IXV7	KLD8B_HUMAN	Homo sapiens kelch domain containing 8B (KLHDC8B), mRNA.	6						cytoplasm				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|stomach(1)	7				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CAGGAGGTGGCCGGGCCTTTG	0.612000														14			11		0	0	1	0	0
TRAPPC8	22878	broad.mit.edu	37	18	29419357	29419357	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:29419357G>A	uc002kxc.4	-	26	4265	c.3901C>T	c.(3901-3903)Cca>Tca	p.P1301S	TRAPPC8_uc002kxb.4_Missense_Mutation_p.P1247S|TRAPPC8_uc002kxd.4_Non-coding_Transcript	NM_014939	NP_055754	Q9Y2L5	TPPC8_HUMAN	Homo sapiens trafficking protein particle complex 8 (TRAPPC8), mRNA.	1301					ER to Golgi vesicle-mediated transport	cis-Golgi network				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TCTACTGATGGCCTTGAGGAA	0.343000														42			36		0	0	1	0	0
DPF1	8193	broad.mit.edu	37	19	38713067	38713067	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:38713067G>A	uc021uty.1	-	2	336	c.309C>T	c.(307-309)cgC>cgT	p.R103R	DPF1_uc002ohm.3_Silent_p.R103R|DPF1_uc002ohl.3_Silent_p.R103R|DPF1_uc002ohn.3_Silent_p.R21R|DPF1_uc010xtw.1_Silent_p.R77R	NM_001135155	NP_001128627	Q92782	DPF1_HUMAN	Homo sapiens D4, zinc and double PHD fingers family 1 (DPF1), transcript variant 1, mRNA.	103					induction of apoptosis|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nBAF complex	zinc ion binding			large_intestine(1)|lung(4)|ovary(1)|skin(1)	7	all_cancers(60;1.24e-06)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			TCCTCCAACAGCGGGCGGGGT	0.692000														86			63		0	0	1	0	0
ADCY10	55811	broad.mit.edu	37	1	167865875	167865875	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:167865875A>G	uc001ger.3	-	6	995	c.697T>C	c.(697-699)Tgt>Cgt	p.C233R	ADCY10_uc010plj.2_Missense_Mutation_p.C80R|ADCY10_uc009wvk.3_Missense_Mutation_p.C141R|ADCY10_uc009wvl.3_Missense_Mutation_p.C232R|ADCY10_uc009wvm.2_Non-coding_Transcript	NM_018417	NP_001161221	Q96PN6	ADCYA_HUMAN	Homo sapiens adenylate cyclase 10 (soluble) (ADCY10), transcript variant 1, mRNA.	233					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	ATP binding|adenylate cyclase activity|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						AAGGTCGTACACTTTGTGAAA	0.363000														311			25		0	0	1	0	0
TMED10	10972	broad.mit.edu	37	14	75643203	75643203	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:75643203C>A	uc001xrm.1	-	0	147	c.80G>T	c.(79-81)aGa>aTa	p.R27I	TMED10_uc010ash.1_Non-coding_Transcript	NM_006827	NP_006818	P49755	TMEDA_HUMAN	Homo sapiens transmembrane emp24-like trafficking protein 10 (yeast) (TMED10), mRNA.	27					protein transport|regulated secretory pathway|vesicle targeting, to, from or within Golgi	ER-Golgi intermediate compartment|Golgi membrane|cis-Golgi network|integral to membrane|melanosome|microsome|zymogen granule membrane	protein binding			endometrium(1)|large_intestine(5)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(234;0.0126)		AAGGACCAATCTGGGGCCGAG	0.582000														78			8		0.0581538	0.0591027	1	1	0
GLUL	2752	broad.mit.edu	37	1	182353692	182353692	+	Missense_Mutation	SNP	G	A	A	rs80358214		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:182353692G>A	uc001gpa.2	-	6	1213	c.970C>T	c.(970-972)Cgc>Tgc	p.R324C	GLUL_uc010pnt.2_Missense_Mutation_p.R111C|GLUL_uc001gpb.2_Missense_Mutation_p.R324C|GLUL_uc001gpc.2_Missense_Mutation_p.R324C|GLUL_uc001gpd.2_Missense_Mutation_p.R324C	NM_001033056	NP_002056	P15104	GLNA_HUMAN	Homo sapiens glutamate-ammonia ligase (GLUL), transcript variant 3, mRNA.	324			R -> C (in CSGD; reduced glutamine synthetase activity).		cell proliferation|glutamine biosynthetic process|neurotransmitter uptake	Golgi apparatus|cytosol|mitochondrion	ATP binding|glutamate decarboxylase activity|glutamate-ammonia ligase activity|identical protein binding			endometrium(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	16					Asparaginase(DB00023)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)|L-Methionine(DB00134)	CGGGGAATGCGTATGCTGGCG	0.552000														41			23		0	0	1	0	0
KLHL20	27252	broad.mit.edu	37	1	173721016	173721016	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:173721016C>A	uc001gjc.3	+	3	890	c.711C>A	c.(709-711)gcC>gcA	p.A237A	KLHL20_uc010pmr.2_Silent_p.A48A|KLHL20_uc009wwf.3_Silent_p.A219A	NM_014458	NP_055273	Q9Y2M5	KLH20_HUMAN	Homo sapiens kelch-like 20 (Drosophila) (KLHL20), mRNA.	237	BACK.				cytoskeleton organization|negative regulation of apoptosis|proteasomal ubiquitin-dependent protein catabolic process|response to interferon-alpha	Cul3-RING ubiquitin ligase complex|Golgi apparatus|PML body|actin cytoskeleton|cell surface|perinuclear region of cytoplasm	actin binding|interferon-gamma binding|ubiquitin-protein ligase activity			breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1)	34						CAGTGATGGCCTGGGTCAAAT	0.428000														40			6		0.00198382	0.00208369	1	1	0
PEX16	9409	broad.mit.edu	37	11	45937384	45937384	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:45937384G>T	uc001nbt.3	-	3	541	c.229C>A	c.(229-231)Ctg>Atg	p.L77M	PEX16_uc001nbu.3_Missense_Mutation_p.L77M	NM_057174	NP_476515	Q9Y5Y5	PEX16_HUMAN	Homo sapiens peroxisomal biogenesis factor 16 (PEX16), transcript variant 2, mRNA.	77	Required for peroxisomal location.				ER-dependent peroxisome organization|peroxisome membrane biogenesis|protein import into peroxisome matrix|protein import into peroxisome membrane	endoplasmic reticulum membrane|integral to peroxisomal membrane	protein C-terminus binding			large_intestine(2)|lung(2)|ovary(2)|skin(1)	7				GBM - Glioblastoma multiforme(35;0.223)		TGCTGGGACAGCGACTGCAAG	0.612000														94			55		7.47603e-22	9.69526e-22	1	1	0
DOPEY1	23033	broad.mit.edu	37	6	83848136	83848136	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:83848136C>A	uc011dyy.2	+	20	4608	c.4348C>A	c.(4348-4350)Ctc>Atc	p.L1450I	DOPEY1_uc003pjs.1_Missense_Mutation_p.L1459I|DOPEY1_uc010kbl.1_Missense_Mutation_p.L1450I|DOPEY1_uc003pjt.3_Non-coding_Transcript	NM_001199942	NP_001186871	Q5JWR5	DOP1_HUMAN	Homo sapiens dopey family member 1 (DOPEY1), transcript variant 2, mRNA.	1459					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		TCTTATTTCTCTCTGCTTATA	0.363000														109			12		2.80697e-09	3.3309e-09	1	1	0
METTL6	131965	broad.mit.edu	37	3	15452855	15452855	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:15452855G>T	uc003bzs.1	-	5	1021	c.763C>A	c.(763-765)Ctg>Atg	p.L255M	METTL6_uc011avp.1_Missense_Mutation_p.L210M	NM_152396	NP_689609	Q8TCB7	METL6_HUMAN	Homo sapiens methyltransferase like 6 (METTL6), mRNA.	255							methyltransferase activity			endometrium(1)|kidney(1)|large_intestine(9)|lung(3)|prostate(1)	15						GGCACACACAGGCCTTCTTTT	0.453000														76			6		2.0095e-06	2.27092e-06	1	1	0
PACRG	135138	broad.mit.edu	37	6	163510401	163510401	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:163510401C>T	uc003qua.3	+	4	798	c.574C>T	c.(574-576)Caa>Taa	p.Q192*	PACRG_uc003qub.3_Nonsense_Mutation_p.Q192*|PACRG_uc003quc.3_Nonsense_Mutation_p.Q192*	NM_152410	NP_689623	Q96M98	PACRG_HUMAN	Homo sapiens PARK2 co-regulated (PACRG), transcript variant 1, mRNA.	192										endometrium(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Breast(66;2.41e-05)|Ovarian(120;0.0245)|Prostate(117;0.0273)|all_neural(5;0.0416)|Glioma(2;0.203)		OV - Ovarian serous cystadenocarcinoma(33;4.31e-19)|GBM - Glioblastoma multiforme(2;7.42e-11)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)|KIRC - Kidney renal clear cell carcinoma(3;0.205)|Kidney(3;0.242)		TTATTACCGTCAAATCCTCCC	0.478000														32			26		0	0	1	0	0
WWC2	80014	broad.mit.edu	37	4	184175070	184175070	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:184175070G>A	uc010irx.3	+	8	1296	c.1114G>A	c.(1114-1116)Gaa>Aaa	p.E372K	WWC2_uc003ivk.4_Missense_Mutation_p.E167K|WWC2_uc003ivl.4_Non-coding_Transcript|WWC2_uc010iry.3_Missense_Mutation_p.E54K	NM_024949	NP_079225	Q6AWC2	WWC2_HUMAN	Homo sapiens WW and C2 domain containing 2 (WWC2), mRNA.	372										NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	32		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)		AGATGAATTAGAACGCCTAGA	0.458000														13			12		0	0	1	0	0
TAX1BP1	8887	broad.mit.edu	37	7	27788186	27788186	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:27788186G>A	uc003szl.3	+	1	225	c.43G>A	c.(43-45)Gcc>Acc	p.A15T	TAX1BP1_uc011jzo.2_Missense_Mutation_p.A15T|TAX1BP1_uc003szk.3_Missense_Mutation_p.A15T|TAX1BP1_uc011jzp.2_5'UTR	NM_006024	NP_006015	Q86VP1	TAXB1_HUMAN	Homo sapiens Tax1 (human T-cell leukemia virus type I) binding protein 1 (TAX1BP1), transcript variant 1, mRNA.	15					anti-apoptosis|apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production	cytosol	identical protein binding|kinase binding|zinc ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(8)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31			GBM - Glioblastoma multiforme(3;0.0823)			TTCCAACTTTGCCCATGTCAT	0.358000														69			8		0	0	1	0	0
ATG4A	115201	broad.mit.edu	37	X	107381354	107381354	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:107381354G>T	uc004enr.3	+	8	905	c.747G>T	c.(745-747)aaG>aaT	p.K249N	ATG4A_uc004ens.3_Missense_Mutation_p.K165N|ATG4A_uc011msl.2_Intron|ATG4A_uc010npi.3_Intron|ATG4A_uc004ent.3_Intron	NM_052936	NP_443168	Q8WYN0	ATG4A_HUMAN	Homo sapiens ATG4 autophagy related 4 homolog A (S. cerevisiae) (ATG4A), transcript variant 1, mRNA.	249					autophagy|protein transport|proteolysis	cytoplasm	cysteine-type peptidase activity			endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)	11						AGTGTTTTAAGATGCCACAGT	0.448000														130			71		8.79861e-51	1.17281e-50	1	1	0
PDZD9	255762	broad.mit.edu	37	16	22000097	22000097	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:22000097C>T	uc021ter.1	-	1	110	c.47G>A	c.(46-48)aGt>aAt	p.S16N	PDZD9_uc002dka.2_Missense_Mutation_p.S14N	NM_173806	NP_776167	Q8IXQ8	PDZD9_HUMAN	Homo sapiens PDZ domain containing 9 (PDZD9), transcript variant 1, mRNA.	76										breast(3)|endometrium(2)|lung(3)|pancreas(1)	9						ATGGCCAACACTAATCAGAAC	0.353000														24			6		0	0	1	0	0
TPD52	7163	broad.mit.edu	37	8	80950356	80950356	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:80950356G>T	uc022awn.1	-	7	1061	c.739C>A	c.(739-741)Ctg>Atg	p.L247M	TPD52_uc010lzr.3_Intron|TPD52_uc010lzs.1_Non-coding_Transcript|TPD52_uc003ybs.1_Missense_Mutation_p.L207M|TPD52_uc003ybt.1_Missense_Mutation_p.L184M|TPD52_uc003ybq.1_Non-coding_Transcript|TPD52_uc003ybr.1_Missense_Mutation_p.L224M|TPD52_uc022awm.1_Non-coding_Transcript|TPD52_uc022awo.1_Missense_Mutation_p.L238M|TPD52_uc022awp.1_Missense_Mutation_p.L233M	NM_001025253	NP_001020424	P55327	TPD52_HUMAN	Homo sapiens tumor protein D52 (TPD52), transcript variant 2, mRNA.	224					B cell differentiation|anatomical structure morphogenesis|secretion	endoplasmic reticulum|perinuclear region of cytoplasm	calcium ion binding|protein heterodimerization activity|protein homodimerization activity			endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	8	all_epithelial(4;1.13e-09)|Lung NSC(7;9.71e-07)|all_lung(9;3.75e-06)	Lung NSC(129;3.55e-06)|all_lung(136;1.53e-05)|Acute lymphoblastic leukemia(644;0.158)	BRCA - Breast invasive adenocarcinoma(6;0.00181)|Epithelial(68;0.0149)|all cancers(69;0.0612)			GAATCTCACAGGCTCTCCTGT	0.498000														101			10		3.86212e-05	4.23294e-05	1	1	0
WDR60	55112	broad.mit.edu	37	7	158716267	158716267	+	Silent	SNP	G	A	A	rs141953924	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:158716267G>A	uc003woe.4	+	16	2258	c.2100G>A	c.(2098-2100)acG>acA	p.T700T	WDR60_uc010lqv.3_Non-coding_Transcript|WDR60_uc010lqw.3_Silent_p.T332T	NM_018051	NP_060521	Q8WVS4	WDR60_HUMAN	Homo sapiens WD repeat domain 60 (WDR60), mRNA.	700										NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		TTTAGGTCACGTGTTGCTGCT	0.463000														69			22		0	0	1	0	0
ZNF350	59348	broad.mit.edu	37	19	52468952	52468952	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:52468952G>A	uc002pyd.3	-	4	982	c.754C>T	c.(754-756)Cat>Tat	p.H252Y	BC014606_uc002pyc.3_Intron	NM_021632	NP_067645	Q9GZX5	ZN350_HUMAN	Homo sapiens zinc finger protein 350 (ZNF350), mRNA.	252					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix|transcriptional repressor complex	DNA binding|protein binding|zinc ion binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0179)		GTTCGCTGATGTTCAGTAAGC	0.428000														93			11		0	0	1	0	0
LRRC17	10234	broad.mit.edu	37	7	102574889	102574889	+	Missense_Mutation	SNP	A	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:102574889A>T	uc003vau.3	+	1	918	c.529A>T	c.(529-531)Atg>Ttg	p.M177L	FBXL13_uc010liq.1_Intron|FBXL13_uc003vaq.2_Intron|FBXL13_uc010lir.1_Intron|FBXL13_uc003var.2_Intron|FBXL13_uc003vas.2_Intron|LRRC17_uc003vat.3_Missense_Mutation_p.M177L	NM_001031692	NP_001026862	Q8N6Y2	LRC17_HUMAN	Homo sapiens leucine rich repeat containing 17 (LRRC17), transcript variant 1, mRNA.	177	LRRCT 1.				bone marrow development|negative regulation of osteoclast differentiation|ossification	extracellular space				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	17						GCTTATTTCAATGTTGCAGAT	0.428000														117			10		0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114290890	114290890	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:114290890G>A	uc003ibe.4	+	42	11639	c.11539G>A	c.(11539-11541)Gta>Ata	p.V3847I	ANK2_uc003ibd.4_Missense_Mutation_p.V1753I|ANK2_uc003ibf.4_Missense_Mutation_p.V1762I|ANK2_uc011cgc.2_Missense_Mutation_p.V938I|ANK2_uc003ibg.4_Missense_Mutation_p.V746I|ANK2_uc003ibh.4_Missense_Mutation_p.V436I	NM_001148	NP_001139	Q01484	ANK2_HUMAN	Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.	3814					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		AACCAGCCTCGTAATAGTGGA	0.542000														31			17		0	0	1	0	0
TDRD10	126668	broad.mit.edu	37	1	154493951	154493951	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:154493951C>T	uc009wow.3	+	5	1203	c.365C>T	c.(364-366)cCg>cTg	p.P122L	TDRD10_uc001ffd.3_Missense_Mutation_p.P122L|TDRD10_uc001ffe.3_Missense_Mutation_p.P43L	NM_001098475	NP_001091945	Q5VZ19	TDR10_HUMAN	Homo sapiens tudor domain containing 10 (TDRD10), transcript variant 1, mRNA.	122							RNA binding|nucleotide binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			CCTCGGGCCCCGCTGGTATGT	0.527000														105			87		0	0	1	0	0
MLH1	4292	broad.mit.edu	37	3	37067299	37067299	+	Missense_Mutation	SNP	C	A	A	rs63751015		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:37067299C>A	uc003cgl.3	+	11	1408	c.1210C>A	c.(1210-1212)Ctg>Atg	p.L404M	MLH1_uc011aye.2_Missense_Mutation_p.L163M|MLH1_uc011ayb.2_Missense_Mutation_p.L163M|MLH1_uc010hge.3_Missense_Mutation_p.L404M|MLH1_uc011ayc.2_Missense_Mutation_p.L306M|MLH1_uc011ayd.2_Missense_Mutation_p.L163M|MLH1_uc003cgo.3_Missense_Mutation_p.L163M|MLH1_uc003cgn.4_Missense_Mutation_p.L163M|MLH1_uc010hgg.1_Missense_Mutation_p.L63M|MLH1_uc010hgh.1_Missense_Mutation_p.L63M|MLH1_uc010hgi.1_Missense_Mutation_p.L46M|MLH1_uc010hgj.1_Missense_Mutation_p.L46M|MLH1_uc010hgk.3_Missense_Mutation_p.L46M|MLH1_uc010hgl.1_Intron|MLH1_uc010hgn.3_Missense_Mutation_p.L46M|MLH1_uc010hgm.3_Non-coding_Transcript|MLH1_uc010hgo.3_Missense_Mutation_p.L46M	NM_000249	NP_001161091	P40692	MLH1_HUMAN	Homo sapiens mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli) (MLH1), transcript variant 1, mRNA.	404					mismatch repair|somatic hypermutation of immunoglobulin genes	MutLalpha complex|MutLbeta complex|chiasma|synaptonemal complex	ATP binding|ATPase activity|protein binding	p.0?(1)		NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						GAGCAAACCCCTGTCCAGTCA	0.517000		1	"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian, CNS"""	"""colorectal, endometrial, ovarian, CNS"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome					85			6		5.18039e-06	5.80246e-06	1	1	0
TTN	7273	broad.mit.edu	37	2	179494054	179494054	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179494054C>A	uc021vsy.1	-	188	36919	c.36694G>T	c.(36694-36696)Ggg>Tgg	p.G12232W	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Missense_Mutation_p.G5927W|TTN_uc021vta.1_Missense_Mutation_p.G5860W|TTN_uc021vtb.1_Missense_Mutation_p.G5735W	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	13159							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)			AGTTTCTTCCCTTTGAGATAC	0.478000														38			5		0.00116845	0.00123466	1	1	0
SATL1	340562	broad.mit.edu	37	X	84349941	84349941	+	Silent	SNP	G	A	A	rs141349825	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:84349941G>A	uc004een.3	-	2	1755	c.1755C>T	c.(1753-1755)aaC>aaT	p.N585N		NM_001012980	NP_001012998	Q86VE3	SATL1_HUMAN	Homo sapiens spermidine/spermine N1-acetyl transferase-like 1 (SATL1), mRNA.	398							N-acetyltransferase activity			NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29						TTTGTTGATCGTTTACTTCTG	0.348000														18			11		0	0	1	0	0
SRP72	6731	broad.mit.edu	37	4	57340537	57340537	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:57340537A>G	uc003hbv.3	+	4	630	c.590A>G	c.(589-591)aAa>aGa	p.K197R	SRP72_uc010ihe.3_Missense_Mutation_p.K197R	NM_006947	NP_008878	O76094	SRP72_HUMAN	Homo sapiens signal recognition particle 72kDa (SRP72), mRNA.	197					SRP-dependent cotranslational protein targeting to membrane|response to drug	cytosol|nucleolus|plasma membrane|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|signal recognition particle binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(7)|ovary(2)	22	Glioma(25;0.08)|all_neural(26;0.101)					CAGGCCATGAAAATCCTACAA	0.428000														46			30		0	0	1	0	0
ATG2B	55102	broad.mit.edu	37	14	96795843	96795843	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:96795843G>T	uc001yfi.3	-	11	2224	c.1859C>A	c.(1858-1860)tCt>tAt	p.S620Y		NM_018036	NP_060506	Q96BY7	ATG2B_HUMAN	Homo sapiens ATG2 autophagy related 2 homolog B (S. cerevisiae) (ATG2B), mRNA.	620										breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		AGGAGGAACAGAATGAAAATC	0.313000														70			7		0.00198382	0.00208369	1	1	0
CEBPB	1051	broad.mit.edu	37	20	48808604	48808604	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:48808604G>A	uc002xvi.2	+	0	1485	c.1034G>A	c.(1033-1035)tGc>tAc	p.C345Y		NM_005194	NP_005185	P17676	CEBPB_HUMAN	Homo sapiens CCAAT/enhancer binding protein (C/EBP), beta (CEBPB), mRNA.	345					acute-phase response|immune response		sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|lung(1)	2			BRCA - Breast invasive adenocarcinoma(9;5.72e-08)|STAD - Stomach adenocarcinoma(23;0.19)			TCCGGCCACTGCTAgcgcggc	0.776000														4			3		0	0	1	0	0
AGPAT4	56895	broad.mit.edu	37	6	161587376	161587376	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:161587376C>T	uc003qtr.1	-	2	479	c.252G>A	c.(250-252)aaG>aaA	p.K84K	AGPAT4_uc003qts.1_Intron|AGPAT4_uc011egb.1_Intron|AGPAT4_uc003qtt.1_Non-coding_Transcript|AGPAT4_uc011egc.1_Silent_p.K84K|AGPAT4_uc011egd.1_Silent_p.K22K|AGPAT4_uc011ege.1_Intron	NM_020133	NP_064518	Q9NRZ5	PLCD_HUMAN	Homo sapiens 1-acylglycerol-3-phosphate O-acyltransferase 4 (lysophosphatidic acid acyltransferase, delta) (AGPAT4), mRNA.	84					phospholipid biosynthetic process	integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity|protein binding			endometrium(1)|large_intestine(10)|lung(10)|ovary(2)|skin(2)	25		Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285)		OV - Ovarian serous cystadenocarcinoma(65;2.23e-17)|BRCA - Breast invasive adenocarcinoma(81;3.58e-05)		CCTTCCCATACTTGAGGTAGG	0.532000														49			4		0	0	1	0	0
COL18A1	80781	broad.mit.edu	37	21	46911189	46911189	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:46911189C>T	uc002zhi.3	+	20	2679	c.2658C>T	c.(2656-2658)ccC>ccT	p.P886P	COL18A1_uc002zhg.3_Silent_p.P706P	NM_030582	NP_085059	P39060	COIA1_HUMAN	Homo sapiens collagen, type XVIII, alpha 1 (COL18A1), transcript variant 1, mRNA.	1121	Nonhelical region 3 (NC3).				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		CTGGCCCCCCCGGACCCCCGG	0.682000														33			7		0	0	1	0	0
ZNF653	115950	broad.mit.edu	37	19	11597974	11597974	+	Splice_Site	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:11597974C>A	uc002mrz.2	-	5	1309	c.1172_splice	c.e5-1	p.E391_splice		NM_138783	NP_620138	Q96CK0	ZN653_HUMAN	Homo sapiens zinc finger protein 653 (ZNF653), mRNA.	391					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	17						TCCTCCTTCTCTACAGGGTGG	0.652000														58			18		1.01871e-10	1.23424e-10	1	1	0
MBP	4155	broad.mit.edu	37	18	74696744	74696744	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:74696744T>C	uc010xfd.2	-	7	1121	c.458A>G	c.(457-459)aAa>aGa	p.K153R	MBP_uc002lml.3_Missense_Mutation_p.K179R|MBP_uc002lmn.3_Missense_Mutation_p.K168R|MBP_uc002lmp.3_Missense_Mutation_p.K142R|MBP_uc010xfe.1_3'UTR|MBP_uc010dqz.3_Non-coding_Transcript|MBP_uc021uls.1_5'Flank	NM_001025101	NP_001020272	P02686	MBP_HUMAN	Homo sapiens myelin basic protein (MBP), transcript variant 7, mRNA.	286					central nervous system development|immune response|synaptic transmission	plasma membrane	structural constituent of myelin sheath			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	19		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.79e-06)|BRCA - Breast invasive adenocarcinoma(31;0.113)|READ - Rectum adenocarcinoma(1;0.188)		CTTAAAAATTTTGGAAAGCGT	0.557000														49			4		0	0	1	0	0
CCT8	10694	broad.mit.edu	37	21	30439249	30439249	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:30439249A>G	uc002ynb.3	-	4	624	c.525T>C	c.(523-525)aaT>aaC	p.N175N	CCT8_uc011acp.2_Silent_p.N156N|CCT8_uc002yna.3_Silent_p.N124N|CCT8_uc011acq.2_Silent_p.N102N	NM_006585	NP_006576	P50990	TCPQ_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 8 (theta) (CCT8), mRNA.	175					'de novo' posttranslational protein folding	aggresome|cytosol|intermediate filament cytoskeleton|microtubule organizing center	ATP binding|ATPase activity, coupled|unfolded protein binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|prostate(3)	14						GAAATACTTCATTACCATATT	0.333000														73			16		0	0	1	0	0
LAP3	51056	broad.mit.edu	37	4	17609105	17609105	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:17609105G>A	uc003gph.1	+	12	1615	c.1453G>A	c.(1453-1455)Gtg>Atg	p.V485M		NM_015907	NP_056991	P28838	AMPL_HUMAN	Homo sapiens leucine aminopeptidase 3 (LAP3), mRNA.	485					proteolysis	nucleus	aminopeptidase activity|magnesium ion binding|manganese ion binding|metalloexopeptidase activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|urinary_tract(1)	20						CATAGCAGGCGTGATGACCAA	0.448000														53			34		0	0	1	0	0
SAMHD1	25939	broad.mit.edu	37	20	35575193	35575193	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:35575193C>A	uc002xgh.2	-	1	423	c.223G>T	c.(223-225)Ggc>Tgc	p.G75C		NM_015474	NP_056289	Q9Y3Z3	SAMH1_HUMAN	Homo sapiens SAM domain and HD domain 1 (SAMHD1), mRNA.	75	SAM.				defense response to virus|innate immune response|regulation of innate immune response	nucleus	metal ion binding|phosphoric diester hydrolase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20		Myeloproliferative disorder(115;0.00878)				AGTAATGCGCCTGTGATTTCA	0.323000														20			6		0.0215528	0.0220531	1	1	0
RAB17	64284	broad.mit.edu	37	2	238485900	238485900	+	Splice_Site	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:238485900C>A	uc002vwz.2	-	4	1098	c.435_splice	c.e4+1	p.Q145_splice	RAB17_uc002vxb.2_Splice_Site	NM_022449	NP_071894	Q9H0T7	RAB17_HUMAN	Homo sapiens RAB17, member RAS oncogene family (RAB17), transcript variant 1, mRNA.	145					protein transport|small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(1)	4		Renal(207;0.00272)|Breast(86;0.00297)|all_hematologic(139;0.182)|Ovarian(221;0.221)		Epithelial(121;9.36e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.26e-10)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000354)|Lung(119;0.011)|LUSC - Lung squamous cell carcinoma(224;0.026)		TGGGCGGTACCTGGAAGGTCA	0.622000														68			6		0.0215528	0.0220531	1	1	0
CRIPAK	285464	broad.mit.edu	37	4	1389271	1389271	+	Silent	SNP	G	A	A	rs71299249		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:1389271G>A	uc003gdf.2	+	0	3932	c.972G>A	c.(970-972)acG>acA	p.T324T		NM_175918	NP_787114	Q8N1N5	CRPAK_HUMAN	Homo sapiens cysteine-rich PAK1 inhibitor (CRIPAK), mRNA.	324					ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding			NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			CTGCTCACACGTGCCATTGTG	0.667000														156			23		0	0	1	0	0
AMIGO2	347902	broad.mit.edu	37	12	47472371	47472371	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:47472371C>T	uc001rpm.3	-	2	1070	c.415G>A	c.(415-417)Gag>Aag	p.E139K	FAM113B_uc001rpn.3_5'Flank|AMIGO2_uc001rpk.3_Missense_Mutation_p.E139K|AMIGO2_uc001rpl.3_Missense_Mutation_p.E139K|AMIGO2_uc021qxg.1_Missense_Mutation_p.E139K	NM_001143668	NP_862830	Q86SJ2	AMGO2_HUMAN	Homo sapiens adhesion molecule with Ig-like domain 2 (AMIGO2), transcript variant 1, mRNA.	139					heterophilic cell-cell adhesion|homophilic cell adhesion	integral to membrane|nucleus|plasma membrane				endometrium(2)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Renal(347;0.138)|Lung SC(27;0.192)					ACCTTCAACTCTTGGAATACA	0.438000														68			41		0	0	1	0	0
METTL21C	196541	broad.mit.edu	37	13	103338671	103338671	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:103338671C>T	uc001vpj.3	-	3	511	c.505G>A	c.(505-507)Gaa>Aaa	p.E169K		NM_001010977	NP_001010977	Q5VZV1	MT21C_HUMAN	Homo sapiens methyltransferase like 21C (METTL21C), mRNA.	169							methyltransferase activity			breast(1)|large_intestine(3)|lung(2)|skin(1)	7						CATACCAGTTCTTTCACTTCA	0.423000														38			16		0	0	1	0	0
PHTF1	10745	broad.mit.edu	37	1	114248605	114248605	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:114248605A>G	uc009wgp.1	-	11	2030	c.1578T>C	c.(1576-1578)atT>atC	p.I526I	PHTF1_uc001edn.3_Silent_p.I526I|PHTF1_uc001edm.2_Silent_p.I283I|PHTF1_uc001edo.1_Silent_p.I283I	NM_006608	NP_006599	Q9UMS5	PHTF1_HUMAN	Homo sapiens putative homeodomain transcription factor 1 (PHTF1), mRNA.	526						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACAAAACAATAATAGGTGTAA	0.383000														60			8		0	0	1	0	0
LDB1	8861	broad.mit.edu	37	10	103869749	103869749	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:103869749G>A	uc009xwz.3	-	6	920	c.577C>T	c.(577-579)Cgg>Tgg	p.R193W	LDB1_uc001kuk.4_Missense_Mutation_p.R157W|LDB1_uc001kul.3_Missense_Mutation_p.R157W	NM_001113407	NP_003884	Q86U70	LDB1_HUMAN	Homo sapiens LIM domain binding 1 (LDB1), transcript variant 1, mRNA.	193					histone H3-K4 acetylation|negative regulation of erythrocyte differentiation|negative regulation of transcription, DNA-dependent|positive regulation of hemoglobin biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription elongation, DNA-dependent|transcription, DNA-dependent|transcription-dependent tethering of RNA polymerase II gene DNA at nuclear periphery	nuclear chromatin|protein complex	LIM domain binding|protein homodimerization activity|transcription corepressor activity	p.R157W(1)		breast(1)|central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)	21		Colorectal(252;0.122)		Epithelial(162;1.11e-07)|all cancers(201;1.82e-06)		GTCTTTATCCGCATCATGTCG	0.587000														23			17		0	0	1	0	0
OSBPL1A	114876	broad.mit.edu	37	18	21946860	21946860	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:21946860C>T	uc002kve.3	-	3	495	c.278G>A	c.(277-279)cGa>cAa	p.R93Q		NM_080597	NP_542164	Q9BXW6	OSBL1_HUMAN	Homo sapiens oxysterol binding protein-like 1A (OSBPL1A), transcript variant 2, mRNA.	93					cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					TTTCACCTTTCGTCCTGTAAA	0.418000														47			17		0	0	1	0	0
RNPEP	6051	broad.mit.edu	37	1	201970880	201970880	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:201970880G>T	uc001gxd.3	+	7	1440	c.1411G>T	c.(1411-1413)Gtg>Ttg	p.V471L	RNPEP_uc001gxe.3_Missense_Mutation_p.V172L	NM_020216	NP_064601	Q9H4A4	AMPB_HUMAN	Homo sapiens arginyl aminopeptidase (aminopeptidase B) (RNPEP), mRNA.	471					leukotriene biosynthetic process		epoxide hydrolase activity|zinc ion binding			breast(1)|endometrium(4)|large_intestine(4)|lung(6)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.005)		GAAAAAGAGAGTGGATATCAT	0.433000														64			55		5.57489e-27	7.31811e-27	1	1	0
ROBO1	6091	broad.mit.edu	37	3	78708951	78708951	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:78708951C>A	uc003dqe.2	-	16	2535	c.2327G>T	c.(2326-2328)aGt>aTt	p.S776I	ROBO1_uc003dqc.2_Missense_Mutation_p.S740I|ROBO1_uc003dqd.2_Missense_Mutation_p.S740I|ROBO1_uc003dqb.2_Missense_Mutation_p.S737I|ROBO1_uc010hoh.2_5'UTR|ROBO1_uc011bgl.1_Missense_Mutation_p.S348I	NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 1 (Drosophila) (ROBO1), transcript variant 1, mRNA.	776	Fibronectin type-III 3.				Roundabout signaling pathway|activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis	cell surface|cytoplasm|integral to plasma membrane	LRR domain binding|axon guidance receptor activity|identical protein binding			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		GGGTGGGGCACTGGGTGCTAT	0.383000														4			3		0.115264	0.116841	1	1	0
FXR1	8087	broad.mit.edu	37	3	180652995	180652995	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:180652995A>G	uc003fkq.3	+	2	414	c.174A>G	c.(172-174)gaA>gaG	p.E58E	FXR1_uc003fkp.3_5'UTR|FXR1_uc003fkr.3_Silent_p.E58E|FXR1_uc011bqj.2_5'UTR|FXR1_uc003fks.3_Intron|FXR1_uc011bqk.2_Intron|FXR1_uc011bql.2_Silent_p.E45E	NM_005087	NP_001013457	P51114	FXR1_HUMAN	Homo sapiens fragile X mental retardation, autosomal homolog 1 (FXR1), transcript variant 1, mRNA.	58					apoptosis|cell differentiation|muscle organ development	nucleolus|polysome				breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2)	26	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)			TAAAAAAAGAAATTAGTGAAG	0.303000														36			5		0	0	1	0	0
AHCTF1	25909	broad.mit.edu	37	1	247030630	247030630	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:247030630G>T	uc001ibv.2	-	25	3387	c.3290C>A	c.(3289-3291)cCt>cAt	p.P1097H	AHCTF1_uc009xgs.1_5'UTR|AHCTF1_uc001ibw.1_Non-coding_Transcript	NM_015446	NP_056261	Q8WYP5	ELYS_HUMAN	Homo sapiens AT hook containing transcription factor 1 (AHCTF1), mRNA.	1088					cytokinesis|mRNA transport|mitotic prometaphase|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			ATACACTATAGGAGATGGTTC	0.363000														18			7		0.0293803	0.0299714	1	1	0
OSBP2	23762	broad.mit.edu	37	22	31289153	31289153	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:31289153G>A	uc003aiy.1	+	8	2018	c.1914G>A	c.(1912-1914)aaG>aaA	p.K638K	OSBP2_uc011ala.1_Silent_p.K472K|OSBP2_uc010gwc.1_Silent_p.K465K|OSBP2_uc011alb.1_Silent_p.K589K|OSBP2_uc003aiz.1_Silent_p.K637K|OSBP2_uc003aja.1_Silent_p.K271K|OSBP2_uc011alc.2_Silent_p.K380K|OSBP2_uc011ald.1_Silent_p.K182K|OSBP2_uc010gwd.1_Silent_p.K183K	NM_030758	NP_110385	Q969R2	OSBP2_HUMAN	Homo sapiens oxysterol binding protein 2 (OSBP2), transcript variant 1, mRNA.	638					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						TGTTCTCCAAGCATGGCTGGA	0.597000														21			9		0	0	1	0	0
ZNF85	7639	broad.mit.edu	37	19	21131860	21131860	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:21131860C>T	uc002npg.4	+	3	688	c.540C>T	c.(538-540)ggC>ggT	p.G180G	ZNF85_uc010ecn.3_Silent_p.G115G|ZNF85_uc010eco.3_Silent_p.G128G|ZNF85_uc002npi.3_Silent_p.G121G	NM_003429	NP_003420	Q03923	ZNF85_HUMAN	Homo sapiens zinc finger protein 85 (ZNF85), transcript variant 1, mRNA.	180						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						CAAAATGTGGCAAATCATTTG	0.303000														51			17		0	0	1	0	0
NOS3	4846	broad.mit.edu	37	7	150706122	150706122	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:150706122C>A	uc003wif.3	+	17	2513	c.2217C>A	c.(2215-2217)gcC>gcA	p.A739A	NOS3_uc011kuy.2_Silent_p.A533A	NM_000603	NP_000594	P29474	NOS3_HUMAN	Homo sapiens nitric oxide synthase 3 (endothelial cell) (NOS3), transcript variant 1, mRNA.	739					anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	Golgi membrane|caveola|cytoskeleton|cytosol	FMN binding|NADP binding|actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	GGCTGAGCGCCCAGGCCGAGG	0.672000											OREG0018442	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		17			18		4.35082e-09	5.154e-09	1	1	0
LRFN5	145581	broad.mit.edu	37	14	42356889	42356889	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:42356889C>A	uc001wvm.3	+	2	2259	c.1061C>A	c.(1060-1062)gCt>gAt	p.A354D	LRFN5_uc010ana.3_Missense_Mutation_p.A354D	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 5 (LRFN5), mRNA.	354	Ig-like.					integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		GATACAGGTGCTTTTACCTGC	0.383000										HNSCC(30;0.082)				61			30		2.61193e-14	3.26891e-14	1	1	0
CSNK2B	1460	broad.mit.edu	37	6	31634614	31634614	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31634614C>T	uc003nvr.1	+	1	346	c.6C>T	c.(4-6)agC>agT	p.S2S	GPANK1_uc003nvn.3_5'Flank|GPANK1_uc021yuu.1_5'Flank|GPANK1_uc003nvo.4_5'Flank|GPANK1_uc003nvp.4_5'Flank|GPANK1_uc003nvq.3_5'Flank|CSNK2B_uc010jsz.1_Silent_p.S2S|CSNK2B_uc010jta.1_Silent_p.S2S|CSNK2B_uc021yuv.1_Silent_p.S2S	NM_001320	NP_001311	P67870	CSK2B_HUMAN	Homo sapiens casein kinase 2, beta polypeptide (CSNK2B), mRNA.	2					Wnt receptor signaling pathway|adiponectin-mediated signaling pathway|axon guidance|cellular protein complex assembly|negative regulation of cell proliferation|regulation of DNA binding	cytosol|nucleus|protein kinase CK2 complex	identical protein binding|protein domain specific binding|protein kinase regulator activity|receptor binding|transcription factor binding			central_nervous_system(5)|endometrium(1)|large_intestine(2)|liver(1)|urinary_tract(1)	10						TGAAGATGAGCAGCTCAGAGG	0.512000														29			4		0	0	1	0	0
NFS1	9054	broad.mit.edu	37	20	34284379	34284379	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:34284379C>A	uc002xdw.2	-	3	405	c.328G>T	c.(328-330)Gta>Tta	p.V110L	NFS1_uc002xdt.2_Missense_Mutation_p.V50L|NFS1_uc010zvl.2_Missense_Mutation_p.V110L|NFS1_uc010zvk.2_5'UTR|NFS1_uc002xdx.3_Missense_Mutation_p.V110L|ROMO1_uc002xdy.3_5'Flank|ROMO1_uc010gfm.3_5'Flank	NM_021100	NP_066923	Q9Y697	NFS1_HUMAN	Homo sapiens NFS1 nitrogen fixation 1 homolog (S. cerevisiae) (NFS1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	110					Mo-molybdopterin cofactor biosynthetic process|cysteine metabolic process|iron incorporation into metallo-sulfur cluster|protein complex assembly|water-soluble vitamin metabolic process	cytosol|mitochondrial matrix|nucleus	cysteine desulfurase activity|protein homodimerization activity|pyridoxal phosphate binding			central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	18	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.0886)		L-Alanine(DB00160)|L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)	AGAGATGCTACTTGCTGCAAG	0.463000														74			24		3.5997e-14	4.50316e-14	1	1	0
LRP4	4038	broad.mit.edu	37	11	46911497	46911497	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:46911497G>A	uc001ndn.4	-	14	2333	c.2090C>T	c.(2089-2091)gCa>gTa	p.A697V		NM_002334	NP_002325	O75096	LRP4_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 4 (LRP4), mRNA.	697					Wnt receptor signaling pathway|endocytosis|negative regulation of canonical Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		TTTTTTACCTGCAGGTTGGCG	0.517000											OREG0020948	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		30			22		0	0	1	0	0
ZMYM2	7750	broad.mit.edu	37	13	20577209	20577209	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:20577209C>A	uc001umr.3	+	4	1365	c.1067C>A	c.(1066-1068)tCt>tAt	p.S356Y	ZMYM2_uc001umq.3_Missense_Mutation_p.S269Y|ZMYM2_uc001ums.3_Missense_Mutation_p.S356Y|ZMYM2_uc021rgy.1_Missense_Mutation_p.S356Y|ZMYM2_uc001umt.3_Missense_Mutation_p.S356Y|ZMYM2_uc009zzn.1_Missense_Mutation_p.S291Y	NM_003453	NP_932072	Q9UBW7	ZMYM2_HUMAN	Homo sapiens zinc finger, MYM-type 2 (ZMYM2), transcript variant 1, mRNA.	356					regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	ubiquitin conjugating enzyme binding|zinc ion binding			large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		CTCTTTTGTTCTACCACCTGC	0.398000														17			11		0.000673444	0.000715966	1	1	0
ARAP3	64411	broad.mit.edu	37	5	141050955	141050955	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:141050955C>T	uc003llm.3	-	12	1945	c.1867G>A	c.(1867-1869)Gct>Act	p.A623T	ARAP3_uc011dbe.2_Missense_Mutation_p.A285T|ARAP3_uc003lln.3_Missense_Mutation_p.A545T	NM_022481	NP_071926	Q8WWN8	ARAP3_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 (ARAP3), mRNA.	623					cytoskeleton organization|negative regulation of Rho protein signal transduction|negative regulation of cell migration|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|Rho GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						CTTGCCACAGCTGCACACAGT	0.587000														27			17		0	0	1	0	0
CD1A	909	broad.mit.edu	37	1	158227281	158227281	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:158227281G>A	uc001frt.3	+	4	1487	c.954G>A	c.(952-954)gcG>gcA	p.A318A	CD1A_uc021pbk.1_Non-coding_Transcript	NM_001763	NP_001754	P06126	CD1A_HUMAN	Homo sapiens CD1a molecule (CD1A), mRNA.	318					antigen processing and presentation|immune response	MHC class I protein complex|endosome membrane|integral to plasma membrane		p.A318A(2)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	TAGGTCTTGCGCTTTGGTTCA	0.458000														169			96		0	0	1	0	0
DOCK7	85440	broad.mit.edu	37	1	63113871	63113871	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:63113871C>T	uc001daq.3	-	5	672	c.638G>A	c.(637-639)cGa>cAa	p.R213Q	DOCK7_uc001dan.3_Missense_Mutation_p.R105Q|DOCK7_uc001dao.3_Missense_Mutation_p.R105Q|DOCK7_uc001dap.3_Missense_Mutation_p.R213Q|DOCK7_uc009wah.1_Missense_Mutation_p.R213Q	NM_033407	NP_212132	Q96N67	DOCK7_HUMAN	Homo sapiens dedicator of cytokinesis 7 (DOCK7), mRNA.	213					activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|Rac GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						ATTTGGAGTTCGATCAAGTAA	0.403000														70			31		0	0	1	0	0
FAM13B	51306	broad.mit.edu	37	5	137295347	137295347	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:137295347G>A	uc003lbz.2	-	12	1933	c.1399C>T	c.(1399-1401)Cat>Tat	p.H467Y	FAM13B_uc003lcb.2_Missense_Mutation_p.H349Y|FAM13B_uc003lca.2_Missense_Mutation_p.H467Y	NM_016603	NP_057687	Q9NYF5	FA13B_HUMAN	Homo sapiens family with sequence similarity 13, member B (FAM13B), transcript variant 1, mRNA.	467					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			endometrium(4)|kidney(2)|lung(5)	11						AGATCTAAATGTGGAATACTG	0.398000														43			5		0	0	1	0	0
METTL16	79066	broad.mit.edu	37	17	2323299	2323299	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:2323299G>A	uc002fut.3	-	9	1802	c.1654C>T	c.(1654-1656)Cgt>Tgt	p.R552C	METTL16_uc010cka.3_Non-coding_Transcript|METTL16_uc002fuu.4_Non-coding_Transcript|METTL16_uc002fuv.3_Intron|METTL16_uc010vqx.1_Non-coding_Transcript|METTL16_uc010vqy.1_Missense_Mutation_p.R334C	NM_024086	NP_076991	Q86W50	MET16_HUMAN	Homo sapiens methyltransferase like 16 (METTL16), mRNA.	552							methyltransferase activity			kidney(2)|large_intestine(9)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	19						ATTTGGTTACGTATGTAGGTG	0.473000														65			5		0	0	1	0	0
C7orf49	78996	broad.mit.edu	37	7	134851540	134851540	+	Silent	SNP	C	T	T	rs146289482		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:134851540C>T	uc003vsl.3	-	3	610	c.297G>A	c.(295-297)tcG>tcA	p.S99S	C7orf49_uc003vsh.3_Intron|C7orf49_uc003vsj.3_Silent_p.S70S|C7orf49_uc022alz.1_3'UTR|C7orf49_uc022ama.1_Silent_p.S44S|C7orf49_uc022amb.1_3'UTR|C7orf49_uc003vsm.3_3'UTR|C7orf49_uc003vso.3_Silent_p.S44S|C7orf49_uc003vsk.3_3'UTR	NM_024033	NP_001230684	Q9BWK5	MRI_HUMAN	Homo sapiens chromosome 7 open reading frame 49 (C7orf49), transcript variant 1, mRNA.	99						cytoplasm				endometrium(1)|large_intestine(4)|lung(1)|ovary(1)	7						TTGTGTGAGGCGACACGGAGC	0.642000														45			59		0	0	1	0	0
ZNF609	23060	broad.mit.edu	37	15	64967929	64967929	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:64967929C>T	uc002ann.3	+	3	2876	c.2876C>T	c.(2875-2877)tCg>tTg	p.S959L		NM_015042	NP_055857	O15014	ZN609_HUMAN	Homo sapiens zinc finger protein 609 (ZNF609), mRNA.	959						nucleus	zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CAGCAGCCCTCGGTCATCCAG	0.507000														101			11		0	0	1	0	0
KIRREL3	84623	broad.mit.edu	37	11	126333072	126333072	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:126333072G>A	uc001qea.3	-	5	1083	c.722C>T	c.(721-723)tCg>tTg	p.S241L	KIRREL3_uc001qeb.3_Missense_Mutation_p.S241L|KIRREL3_uc001qec.1_Missense_Mutation_p.S241L	NM_032531	NP_115920	Q8IZU9	KIRR3_HUMAN	Homo sapiens kin of IRRE like 3 (Drosophila) (KIRREL3), transcript variant 1, mRNA.	241	Ig-like C2-type 2.				hemopoiesis	extracellular region|integral to membrane|plasma membrane	protein binding			central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)		AATGGTGACCGACGTCTCCTT	0.617000														53			5		0	0	1	0	0
ADAMTS10	81794	broad.mit.edu	37	19	8651767	8651767	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:8651767G>A	uc002mkj.1	-	18	2446	c.2172C>T	c.(2170-2172)gtC>gtT	p.V724V	ADAMTS10_uc002mki.1_Silent_p.V211V|ADAMTS10_uc002mkk.1_Silent_p.V356V	NM_030957	NP_112219	Q9H324	ATS10_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 10 (ADAMTS10), mRNA.	724	Spacer.				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						GAATCCAGACGACATCCTCGT	0.572000											OREG0025221	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		37			25		0	0	1	0	0
VNN3	55350	broad.mit.edu	37	6	133044935	133044935	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:133044935G>A	uc011ecm.2	-	5	1433	c.541C>T	c.(541-543)Cgt>Tgt	p.R181C	VNN3_uc010kfs.3_Missense_Mutation_p.R147C|VNN3_uc011ecl.2_Non-coding_Transcript|VNN3_uc011ecn.2_Missense_Mutation_p.R181C|VNN3_uc010kfu.3_Missense_Mutation_p.R181C|VNN3_uc010kfv.3_Non-coding_Transcript|VNN3_uc010kfw.3_Missense_Mutation_p.R181C|VNN3_uc010kfx.3_Missense_Mutation_p.R147C|VNN3_uc010kfy.3_Missense_Mutation_p.R147C|VNN3_uc010kfz.3_Missense_Mutation_p.R147C					Homo sapiens vanin 3 (VNN3), transcript variant 3, non-coding RNA.									p.R438S(1)		cervix(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	8	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00242)|GBM - Glioblastoma multiforme(226;0.0168)		AAAACATAACGCGTTCCAAAT	0.468000														12			12		0	0	1	0	0
KIF13B	23303	broad.mit.edu	37	8	29006204	29006204	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:29006204G>T	uc003xhh.4	-	15	1762	c.1703C>A	c.(1702-1704)tCt>tAt	p.S568Y	KIF13B_uc003xhj.2_Missense_Mutation_p.S465Y|KIF13B_uc010lvf.1_Missense_Mutation_p.S504Y	NM_015254	NP_056069	Q9NQT8	KI13B_HUMAN	Homo sapiens kinesin family member 13B (KIF13B), mRNA.	568					T cell activation|microtubule-based movement|protein targeting|signal transduction	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		CAGCTGCTCAGAACTATTCTC	0.463000														59			35		2.48696e-23	3.23913e-23	1	1	0
PEX3	8504	broad.mit.edu	37	6	143810334	143810334	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:143810334T>G	uc003qjl.3	+	11	1355	c.1093T>G	c.(1093-1095)Ttt>Gtt	p.F365V		NM_003630	NP_003621	P56589	PEX3_HUMAN	Homo sapiens peroxisomal biogenesis factor 3 (PEX3), mRNA.	365					protein import into peroxisome membrane|transmembrane transport	integral to peroxisomal membrane	protein binding			endometrium(1)|large_intestine(9)|lung(4)|ovary(2)|skin(2)	18				OV - Ovarian serous cystadenocarcinoma(155;5.73e-06)|GBM - Glioblastoma multiforme(68;0.0117)		GTATGAAGCTTTTAGTACCCC	0.338000														108			8		0	0	1	0	0
SUV420H1	51111	broad.mit.edu	37	11	67939085	67939085	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:67939085C>T	uc001onm.1	-	6	1001	c.745G>A	c.(745-747)Gac>Aac	p.D249N	SUV420H1_uc009yse.1_5'UTR|SUV420H1_uc001onn.1_Missense_Mutation_p.D77N|SUV420H1_uc009ysf.2_Missense_Mutation_p.D9N|SUV420H1_uc001ono.1_Missense_Mutation_p.D249N|SUV420H1_uc010rqa.1_Missense_Mutation_p.D226N	NM_017635	NP_060105	Q4FZB7	SV421_HUMAN	Homo sapiens suppressor of variegation 4-20 homolog 1 (Drosophila) (SUV420H1), transcript variant 1, mRNA.	249	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	p.D249N(2)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						ACACTGAAGTCGTTTTCTCCA	0.413000														60			5		0	0	1	0	0
FAT1	2195	broad.mit.edu	37	4	187521066	187521066	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:187521066G>A	uc003izf.3	-	21	12277	c.12089C>T	c.(12088-12090)cCg>cTg	p.P4030L		NM_005245	NP_005236	Q14517	FAT1_HUMAN	Homo sapiens FAT tumor suppressor homolog 1 (Drosophila) (FAT1), mRNA.	4030	EGF-like 2.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						AGCAGGTGACGGATTGCAAAC	0.512000										HNSCC(5;0.00058)				28			13		0	0	1	0	0
ZNF750	79755	broad.mit.edu	37	17	80788577	80788577	+	Missense_Mutation	SNP	G	A	A	rs142714888		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:80788577G>A	uc002kga.3	-	2	1924	c.1613C>T	c.(1612-1614)gCg>gTg	p.A538V	TBCD_uc002kfx.1_Intron|TBCD_uc002kfy.1_Intron|TBCD_uc002kfz.3_Intron	NM_024702	NP_078978	Q32MQ0	ZN750_HUMAN	Homo sapiens zinc finger protein 750 (ZNF750), mRNA.	538						intracellular	zinc ion binding			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			GGCGGTTTCCGCCTGGGGGCT	0.627000														66			7		0	0	1	0	0
ARVCF	421	broad.mit.edu	37	22	19960456	19960456	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:19960456G>A	uc002zqz.3	-	14	2812	c.2542C>T	c.(2542-2544)Cgc>Tgc	p.R848C	ARVCF_uc002zqy.3_Missense_Mutation_p.R364C	NM_001670	NP_001661	O00192	ARVC_HUMAN	Homo sapiens armadillo repeat gene deleted in velocardiofacial syndrome (ARVCF), mRNA.	848					cell adhesion|multicellular organismal development		protein binding			NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13	Colorectal(54;0.0993)					ACCTGGAAGCGCGCCTTGGTC	0.567000														95			14		0	0	1	0	0
SPINT4	391253	broad.mit.edu	37	20	44351048	44351048	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:44351048C>A	uc002xpe.1	+	0	61	c.42C>A	c.(40-42)atC>atA	p.I14I		NM_178455	NP_848550	Q6UDR6	SPIT4_HUMAN	Homo sapiens serine peptidase inhibitor, Kunitz type 4 (SPINT4), mRNA.	14						extracellular region	serine-type endopeptidase inhibitor activity			lung(6)|ovary(1)|skin(1)	8		Myeloproliferative disorder(115;0.028)				GATTCTTCATCTTCTGCTCAT	0.413000														54			21		4.26978e-12	5.24748e-12	1	1	0
AASDH	132949	broad.mit.edu	37	4	57220284	57220284	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:57220284C>A	uc003hbn.3	-	7	1457	c.1304G>T	c.(1303-1305)gGa>gTa	p.G435V	AASDH_uc010ihb.3_5'UTR|AASDH_uc003hbo.3_Missense_Mutation_p.G335V|AASDH_uc011caa.2_Missense_Mutation_p.G282V|AASDH_uc011cab.2_Intron|AASDH_uc010ihc.3_Missense_Mutation_p.G435V|AASDH_uc003hbp.3_Missense_Mutation_p.G435V	NM_181806	NP_861522	Q4L235	ACSF4_HUMAN	Homo sapiens aminoadipate-semialdehyde dehydrogenase (AASDH), mRNA.	435					fatty acid metabolic process		ATP binding|acid-thiol ligase activity|acyl carrier activity|cofactor binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				AAAAATCTCTCCATCTTTCAC	0.403000														38			20		3.51602e-12	4.32762e-12	1	1	0
SPATA2L	124044	broad.mit.edu	37	16	89763869	89763869	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:89763869G>A	uc002foj.3	-	2	1235	c.1148C>T	c.(1147-1149)gCa>gTa	p.A383V	SPATA2L_uc002fok.3_Intron	NM_152339	NP_689552	Q8IUW3	SPA2L_HUMAN	Homo sapiens spermatogenesis associated 2-like (SPATA2L), mRNA.	383										breast(1)|cervix(1)|endometrium(1)|lung(2)|skin(1)	6		Lung NSC(15;0.00043)|all_lung(18;0.000665)|all_hematologic(23;0.0355)		BRCA - Breast invasive adenocarcinoma(80;0.0272)		GGGCAGGGCTGCACAGTGGGC	0.697000														16			14		0	0	1	0	0
SLC5A3	6526	broad.mit.edu	37	21	35468352	35468352	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:35468352G>A	uc021wir.1	+	0	855	c.855G>A	c.(853-855)agG>agA	p.R285R	SLC5A3_uc002yto.3_Silent_p.R285R|MRPS6_uc002ytp.2_Intron	NM_006933	NP_008864	P53794	SC5A3_HUMAN	Homo sapiens solute carrier family 5 (sodium/myo-inositol cotransporter), member 3 (SLC5A3), mRNA.	285		Implicated in sodium coupling (By similarity).				integral to plasma membrane	myo-inositol:sodium symporter activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	20						TCGTGCAGAGGGTCCTTGCAG	0.483000														55			41		0	0	1	0	0
MED13L	23389	broad.mit.edu	37	12	116425028	116425028	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:116425028G>A	uc001tvw.3	-	17	4055	c.4000C>T	c.(4000-4002)Ctc>Ttc	p.L1334F		NM_015335	NP_056150	Q71F56	MD13L_HUMAN	Homo sapiens mediator complex subunit 13-like (MED13L), mRNA.	1334					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		GCATCTTGGAGAAAGGGCTGC	0.527000														32			15		0	0	1	0	0
AMPD3	272	broad.mit.edu	37	11	10516515	10516515	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:10516515C>T	uc001min.1	+	7	1576	c.1231C>T	c.(1231-1233)Cgt>Tgt	p.R411C	AMPD3_uc010rbz.1_Missense_Mutation_p.R243C|AMPD3_uc009yfw.1_Non-coding_Transcript|AMPD3_uc001mio.1_Missense_Mutation_p.R402C|AMPD3_uc009yfz.2_Non-coding_Transcript|AMPD3_uc001mip.1_Missense_Mutation_p.R409C|AMPD3_uc009yfy.2_Missense_Mutation_p.R402C	NM_000480	NP_001165902	Q01432	AMPD3_HUMAN	Homo sapiens adenosine monophosphate deaminase 3 (AMPD3), transcript variant 1, mRNA.	402					AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		CAGTGAGCTGCGTGACCTGTA	0.532000														86			71		0	0	1	0	0
LNPEP	4012	broad.mit.edu	37	5	96329619	96329619	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:96329619T>C	uc003kmv.1	+	5	1865	c.1351T>C	c.(1351-1353)Tca>Cca	p.S451P	LNPEP_uc003kmw.1_Missense_Mutation_p.S437P	NM_005575	NP_787116	Q9UIQ6	LCAP_HUMAN	Homo sapiens leucyl/cystinyl aminopeptidase (LNPEP), transcript variant 1, mRNA.	451					cell-cell signaling|female pregnancy|proteolysis	extracellular region|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		TAACACTTCTTCAATGGCGGA	0.468000														96			7		0	0	1	0	0
NR1H3	10062	broad.mit.edu	37	11	47282815	47282815	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:47282815C>T	uc009ylm.3	+	4	773	c.523C>T	c.(523-525)Cgc>Tgc	p.R175C	NR1H3_uc010rhk.2_Missense_Mutation_p.R181C|NR1H3_uc009yll.2_Missense_Mutation_p.R181C|NR1H3_uc001nek.3_Missense_Mutation_p.R130C|NR1H3_uc001nen.4_Missense_Mutation_p.R175C|NR1H3_uc001nem.3_Missense_Mutation_p.R175C	NM_005693	NP_005684	Q13133	NR1H3_HUMAN	Homo sapiens nuclear receptor subfamily 1, group H, member 3 (NR1H3), transcript variant 1, mRNA.	175					apoptotic cell clearance|cellular response to lipopolysaccharide|cholesterol homeostasis|negative regulation of cholesterol storage|negative regulation of inflammatory response|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of macrophage activation|negative regulation of pancreatic juice secretion|negative regulation of pinocytosis|negative regulation of secretion of lysosomal enzymes|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of cholesterol homeostasis|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor biosynthetic process|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of circadian rhythm|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to progesterone stimulus|triglyceride homeostasis	nuclear chromatin|nucleoplasm	cholesterol binding|steroid hormone receptor activity|sterol response element binding|transcription coactivator activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(5)	20						AGAACAGATCCGCCTGAAGAA	0.597000														11			12		0	0	1	0	0
GCFC1	94104	broad.mit.edu	37	21	34134482	34134482	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:34134482C>A	uc002yqn.3	-	3	986	c.796G>T	c.(796-798)Gat>Tat	p.D266Y	GCFC1_uc002yqo.3_Non-coding_Transcript|GCFC1_uc002yqp.3_Missense_Mutation_p.D266Y|GCFC1_uc002yqr.2_Missense_Mutation_p.D266Y	NM_016631	NP_057715	Q9Y5B6	GCFC1_HUMAN	Homo sapiens GC-rich sequence DNA-binding factor 1 (GCFC1), transcript variant 1, mRNA.	266						cytosol|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(11)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	39						TCATCGTCATCTTCATCATCA	0.393000														105			10		1.58986e-06	1.80238e-06	1	1	0
HHIPL2	79802	broad.mit.edu	37	1	222713568	222713568	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:222713568C>T	uc001hnh.1	-	3	1292	c.1234G>A	c.(1234-1236)Gcc>Acc	p.A412T		NM_024746	NP_079022	Q6UWX4	HIPL2_HUMAN	Homo sapiens HHIP-like 2 (HHIPL2), mRNA.	412					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		GCATAGATGGCGGGGTGGGCC	0.587000														41			29		0	0	1	0	0
HFM1	164045	broad.mit.edu	37	1	91731665	91731665	+	Splice_Site	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:91731665C>A	uc001doa.4	-	36	3983	c.3884_splice	c.e36-1	p.G1295_splice	HFM1_uc009wdb.3_Intron|HFM1_uc010osu.2_Splice_Site_p.G974_splice|HFM1_uc001dob.4_Splice_Site_p.G483_splice	NM_001017975	NP_001017975	A2PYH4	HFM1_HUMAN	Homo sapiens HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae) (HFM1), mRNA.	1295							ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		TTTCCAAATCCTATGTGAAGA	0.373000														77			7		0.00198382	0.00208369	1	1	0
C1orf9	51430	broad.mit.edu	37	1	172558792	172558792	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:172558792C>T	uc001giq.4	+	17	2867	c.2551C>T	c.(2551-2553)Caa>Taa	p.Q851*	C1orf9_uc010pmm.1_Nonsense_Mutation_p.Q851*|C1orf9_uc009wwd.3_Nonsense_Mutation_p.Q807*|C1orf9_uc010pmn.2_Intron|C1orf9_uc010pmo.2_Non-coding_Transcript	NM_014283	NP_055098	Q9UBS9	OSPT_HUMAN	Homo sapiens chromosome 1 open reading frame 9 (C1orf9), transcript variant 1, mRNA.	851					multicellular organismal development|ossification	integral to membrane|rough endoplasmic reticulum membrane				breast(1)|endometrium(5)|large_intestine(10)|lung(14)|ovary(2)|skin(2)|urinary_tract(1)	35		Breast(1374;0.212)		Colorectal(1306;3.98e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00544)		CACAGCAAAGCAAACTTTGAT	0.418000														33			21		0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62290342	62290342	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:62290342G>A	uc001ntl.3	-	4	11847	c.11547C>T	c.(11545-11547)atC>atT	p.I3849I	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	3849					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CTGGGCCTTCGATATTCACAT	0.493000														142			109		0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	131887409	131887409	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:131887409G>A	uc003vra.4	-	11	2811	c.2582C>T	c.(2581-2583)aCa>aTa	p.T861I		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	861	IPT/TIG 1.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GCTTACCTCTGTGATGCGGGG	0.662000														27			35		0	0	1	0	0
SYMPK	8189	broad.mit.edu	37	19	46331149	46331149	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:46331149C>T	uc002pdn.3	-	14	2258	c.2013G>A	c.(2011-2013)gcG>gcA	p.A671A	SYMPK_uc002pdo.1_Silent_p.A671A|SYMPK_uc002pdp.1_Silent_p.A671A	NM_004819	NP_004810	Q92797	SYMPK_HUMAN	Homo sapiens symplekin (SYMPK), mRNA.	671					cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		TGATGAGTGGCGCCTCCAGCA	0.647000														80			42		0	0	1	0	0
NYX	60506	broad.mit.edu	37	X	41333679	41333679	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:41333679G>T	uc004dfh.2	+	1	1403	c.973G>T	c.(973-975)Ggc>Tgc	p.G325C	NYX_uc011mku.1_Missense_Mutation_p.G325C	NM_022567	NP_072089	Q9GZU5	NYX_HUMAN	Homo sapiens nyctalopin (NYX), mRNA.	325					response to stimulus|visual perception	intracellular|proteinaceous extracellular matrix		p.G325C(2)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(11)|upper_aerodigestive_tract(1)	17						CTTCCAGCCCGGCTTCTTCCT	0.677000														27			4		0.00024832	0.000267289	1	1	0
RTN2	6253	broad.mit.edu	37	19	45988979	45988979	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:45988979G>T	uc002pcb.3	-	10	1855	c.1625C>A	c.(1624-1626)gCc>gAc	p.A542D	RTN2_uc002pcc.3_Missense_Mutation_p.A469D|RTN2_uc002pcd.3_Non-coding_Transcript	NM_005619	NP_005610	O75298	RTN2_HUMAN	Homo sapiens reticulon 2 (RTN2), transcript variant 1, mRNA.	542	Reticulon.					integral to endoplasmic reticulum membrane	signal transducer activity			cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(4)|skin(1)|urinary_tract(1)	20		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)		TTCGGCTTTGGCTTTGGATCC	0.652000											OREG0025555	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		49			25		1.17739e-12	1.4548e-12	1	1	0
TMCO7	79613	broad.mit.edu	37	16	68896887	68896887	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:68896887T>G	uc002ewi.4	+	2	787	c.775T>G	c.(775-777)Ttg>Gtg	p.L259V	TMCO7_uc002ewh.3_Missense_Mutation_p.L259V	NM_024562	NP_078838	Q9C0B7	TMCO7_HUMAN	Homo sapiens transmembrane and coiled-coil domains 7 (TMCO7), mRNA.	259						integral to membrane	binding			endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|prostate(2)	20		Ovarian(137;0.0568)		OV - Ovarian serous cystadenocarcinoma(108;0.0446)|Epithelial(162;0.198)		CAGGGGGGCCTTGAGAGACAT	0.498000														9			3		0	0	1	0	0
MYH14	79784	broad.mit.edu	37	19	50720971	50720971	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:50720971G>A	uc010enu.1	+	2	552	c.505G>A	c.(505-507)Gag>Aag	p.E169K	MYH14_uc002prq.1_Missense_Mutation_p.E169K|MYH14_uc002prr.1_Missense_Mutation_p.E169K	NM_001145809	NP_001139281	Q7Z406	MYH14_HUMAN	Homo sapiens myosin, heavy chain 14, non-muscle (MYH14), transcript variant 3, mRNA.	169	Myosin head-like.				axon guidance|regulation of cell shape	myosin complex	ATP binding|actin 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)		GAAGCGCCACGAGGTGCCACC	0.612000														51			40		0	0	1	0	0
DHCR7	1717	broad.mit.edu	37	11	71155082	71155082	+	Missense_Mutation	SNP	G	A	A	rs80338853		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:71155082G>A	uc001oqk.3	-	3	528	c.278C>T	c.(277-279)aCg>aTg	p.T93M	DHCR7_uc001oql.3_Missense_Mutation_p.T93M	NM_001163817	NP_001351	Q9UBM7	DHCR7_HUMAN	Homo sapiens 7-dehydrocholesterol reductase (DHCR7), transcript variant 2, mRNA.	93			T -> M (in SLOS).		cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane	7-dehydrocholesterol reductase activity|protein binding			endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1)	19					NADH(DB00157)	GGCTTTCCTCGTTATAGGTGG	0.632000									Smith-Lemli-Opitz syndrome					16			5		0	0	1	0	0
CAMSAP3	57662	broad.mit.edu	37	19	7682811	7682811	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:7682811G>A	uc002mgu.4	+	18	3800	c.3699G>A	c.(3697-3699)tcG>tcA	p.S1233S	CAMSAP3_uc002mgv.4_Silent_p.S1206S|CAMSAP3_uc002mgw.3_Silent_p.S336S	NM_001080429	NP_001073898	Q9P1Y5	CAMP3_HUMAN	Homo sapiens calmodulin regulated spectrin-associated protein family, member 3 (CAMSAP3), transcript variant 1, mRNA.	1206	CKK.				epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding			cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						AGTACAACTCGGACCGCAAGC	0.632000														23			19		0	0	1	0	0
ABCA8	10351	broad.mit.edu	37	17	66937019	66937019	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:66937019T>C	uc002jhq.3	-	3	521	c.181A>G	c.(181-183)Acc>Gcc	p.T61A	ABCA8_uc002jhp.3_Missense_Mutation_p.T61A|ABCA8_uc010wqq.2_Missense_Mutation_p.T61A|ABCA8_uc010wqr.2_5'UTR|ABCA8_uc002jhr.3_Missense_Mutation_p.T61A|ABCA8_uc002jhs.3_Missense_Mutation_p.T61A|ABCA8_uc002jht.3_Missense_Mutation_p.T61A	NM_007168	NP_009099	O94911	ABCA8_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 8 (ABCA8), mRNA.	61						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					AGGTCCATGGTAAGCAGTGAA	0.363000														59			8		0	0	1	0	0
PCSK5	5125	broad.mit.edu	37	9	78710934	78710934	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:78710934C>T	uc004akc.2	+	7	1561	c.1023C>T	c.(1021-1023)agC>agT	p.S341S	PCSK5_uc004ajy.2_Silent_p.S341S|PCSK5_uc004ajz.3_Silent_p.S341S|PCSK5_uc004aka.3_Non-coding_Transcript	NM_001190482	NP_001177411	Q92824	PCSK5_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 5 (PCSK5), transcript variant 1, mRNA.	341	Catalytic.				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	Golgi lumen|extracellular space|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						CTGCAGAAAGCGGAAAGAAAC	0.512000														32			17		0	0	1	0	0
LAD1	3898	broad.mit.edu	37	1	201352498	201352498	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:201352498C>T	uc001gwm.3	-	5	1430	c.1195G>A	c.(1195-1197)Gac>Aac	p.D399N		NM_005558	NP_005549	O00515	LAD1_HUMAN	Homo sapiens ladinin 1 (LAD1), mRNA.	399						basement membrane	structural molecule activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2)	19						ACTGTGTTGTCTGGGAGCTTC	0.617000														62			54		0	0	1	0	0
ADAM8	101	broad.mit.edu	37	10	135085933	135085933	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:135085933C>T	uc021qbe.1	-	8	948	c.862G>A	c.(862-864)Gta>Ata	p.V288I	ADAM8_uc009ybi.3_Missense_Mutation_p.V288I|ADAM8_uc010qva.2_Missense_Mutation_p.V249I|ADAM8_uc010qvb.1_Missense_Mutation_p.V263I|ADAM8_uc009ybj.2_Non-coding_Transcript	NM_001109	NP_001100	B4DVM6	B4DVM6_HUMAN	Homo sapiens ADAM metallopeptidase domain 8 (ADAM8), transcript variant 1, mRNA.	249					integrin-mediated signaling pathway|proteolysis		metalloendopeptidase activity	p.N287N(1)		central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)	17		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;7.72e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.23e-06)|Epithelial(32;1.02e-05)		ATGAGCTGTACGTTGTCATGC	0.687000														19			15		0	0	1	0	0
PRDM10	56980	broad.mit.edu	37	11	129805097	129805097	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:129805097C>A	uc001qfm.3	-	8	1288	c.1056G>T	c.(1054-1056)gaG>gaT	p.E352D	PRDM10_uc001qfj.3_Missense_Mutation_p.E266D|PRDM10_uc001qfk.3_Missense_Mutation_p.E266D|PRDM10_uc001qfl.3_Missense_Mutation_p.E266D|PRDM10_uc010sbx.2_Missense_Mutation_p.E266D|PRDM10_uc001qfn.3_Missense_Mutation_p.E352D|PRDM10_uc009zct.1_Missense_Mutation_p.E384D	NM_020228	NP_064613	Q9NQV6	PRD10_HUMAN	Homo sapiens PR domain containing 10 (PRDM10), transcript variant 1, mRNA.	352					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		GCCAATTCTTCTCTTGCTCTC	0.428000														101			9		1.08611e-07	1.25606e-07	1	1	0
ESPL1	9700	broad.mit.edu	37	12	53686377	53686377	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:53686377G>T	uc001sck.2	+	28	6023	c.5932G>T	c.(5932-5934)Gtg>Ttg	p.V1978L	ESPL1_uc001scj.2_Missense_Mutation_p.V1653L|PFDN5_uc001scl.3_5'Flank|PFDN5_uc001scm.3_5'Flank|PFDN5_uc001scn.3_5'Flank|PFDN5_uc001sco.3_5'Flank	NM_012291	NP_036423	Q14674	ESPL1_HUMAN	Homo sapiens extra spindle pole bodies homolog 1 (S. cerevisiae) (ESPL1), mRNA.	1978					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						CTGGAGAGGAGTGGTTGGGGA	0.537000														36			9		6.40141e-05	6.99953e-05	1	1	0
HERC5	51191	broad.mit.edu	37	4	89410380	89410380	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:89410380G>A	uc003hrt.3	+	15	2179	c.2026G>A	c.(2026-2028)Gct>Act	p.A676T	HERC5_uc011cdm.2_Missense_Mutation_p.A314T	NM_016323	NP_057407	Q9UII4	HERC5_HUMAN	Homo sapiens hect domain and RLD 5 (HERC5), mRNA.	676					ISG15-protein conjugation|innate immune response|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus	cytosol|perinuclear region of cytoplasm	ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity			NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4)	53		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		GTCTGAATTCGCTTTGAGGCC	0.368000														72			48		0	0	1	0	0
PHRF1	57661	broad.mit.edu	37	11	608259	608259	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:608259C>T	uc001lqe.3	+	13	2934	c.2803C>T	c.(2803-2805)Cca>Tca	p.P935S	PHRF1_uc010qwc.2_Missense_Mutation_p.P934S|PHRF1_uc010qwd.2_Missense_Mutation_p.P933S|PHRF1_uc010qwe.2_Missense_Mutation_p.P931S|PHRF1_uc009ybz.1_Missense_Mutation_p.P725S|PHRF1_uc009yca.2_Non-coding_Transcript	NM_020901	NP_065952	Q9P1Y6	PHRF1_HUMAN	Homo sapiens PHD and ring finger domains 1 (PHRF1), mRNA.	935							RNA polymerase binding|zinc ion binding			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						GCTGCGGAGGCCATCCCCCCC	0.682000														12			10		0	0	1	0	0
ZFP14	57677	broad.mit.edu	37	19	36832369	36832369	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:36832369C>T	uc010xtd.2	-	3	441	c.362G>A	c.(361-363)aGg>aAg	p.R121K	ZFP14_uc010eex.2_Missense_Mutation_p.R120K	NM_020917	NP_065968	Q9HCL3	ZFP14_HUMAN	Homo sapiens zinc finger protein 14 homolog (mouse) (ZFP14), mRNA.	120					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	26	Esophageal squamous(110;0.162)					CCAATCATTCCTAAAAATGGA	0.343000														115			46		0	0	1	0	0
TMED5	50999	broad.mit.edu	37	1	93621972	93621972	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:93621972A>G	uc001dpn.3	-	2	803	c.356T>C	c.(355-357)gTg>gCg	p.V119A	TMED5_uc001dpp.3_Non-coding_Transcript|TMED5_uc001dpo.3_Missense_Mutation_p.V119A	NM_016040	NP_057124	Q9Y3A6	TMED5_HUMAN	Homo sapiens transmembrane emp24 protein transport domain containing 5 (TMED5), transcript variant 1, mRNA.	119	GOLD.				transport	ER-Golgi intermediate compartment|endoplasmic reticulum membrane|integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	6		all_lung(203;0.0223)|Lung NSC(277;0.071)|Melanoma(281;0.147)|Glioma(108;0.188)		all cancers(265;0.00108)|GBM - Glioblastoma multiforme(16;0.00407)|Epithelial(280;0.0797)		AAAGAAAATCACCTTCTCAGA	0.328000														110			7		0	0	1	0	0
XAB2	56949	broad.mit.edu	37	19	7684867	7684867	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:7684867C>T	uc002mgx.3	-	16	2387	c.2361G>A	c.(2359-2361)caG>caA	p.Q787Q		NM_020196	NP_064581	Q9HCS7	SYF1_HUMAN	Homo sapiens XPA binding protein 2 (XAB2), mRNA.	787					transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						CGCGCAAGGGCTGGTCACGCT	0.672000								Direct reversal of damage;Nucleotide excision repair (NER)						39			6		0	0	1	0	0
CCDC144NL	339184	broad.mit.edu	37	17	20799212	20799212	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:20799212G>A	uc002gyf.3	-	0	242	c.122C>T	c.(121-123)cCg>cTg	p.P41L	AK057473_uc002gyg.1_Intron|AK057473_uc002gyh.1_Intron	NM_001004306	NP_001004306	Q6NUI1	C144L_HUMAN	Homo sapiens coiled-coil domain containing 144 family, N-terminal like (CCDC144NL), mRNA.	41										large_intestine(3)|lung(3)|skin(1)	7						CTGGTCCCCCGGGTAGTCCAA	0.647000														23			26		0	0	1	0	0
SNX5	27131	broad.mit.edu	37	20	17929569	17929569	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:17929569G>T	uc002wqc.3	-	9	969	c.883C>A	c.(883-885)Ctc>Atc	p.L295I	SNX5_uc002wqb.3_Non-coding_Transcript|SNX5_uc002wqd.3_Missense_Mutation_p.L295I|SNX5_uc002wqe.3_Missense_Mutation_p.L190I|SNX5_uc010zrt.1_Missense_Mutation_p.L295I	NM_014426	NP_689413	Q9Y5X3	SNX5_HUMAN	Homo sapiens sorting nexin 5 (SNX5), transcript variant 2, mRNA.	295	BAR.				cell communication|pinocytosis|protein transport	cytoplasmic vesicle membrane|early endosome membrane|extrinsic to endosome membrane|extrinsic to internal side of plasma membrane|macropinocytic cup|phagocytic cup|ruffle	phosphatidylinositol binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	11						TAGTATCGGAGGAGCTCTGTT	0.413000														53			20		3.62473e-10	4.36059e-10	1	1	0
SQSTM1	8878	broad.mit.edu	37	5	179250876	179250876	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:179250876G>A	uc003mkw.4	+	2	415	c.320G>A	c.(319-321)cGg>cAg	p.R107Q	SQSTM1_uc011dgr.2_Missense_Mutation_p.R23Q|SQSTM1_uc011dgs.2_Missense_Mutation_p.R23Q|SQSTM1_uc003mkx.3_Missense_Mutation_p.R23Q	NM_003900	NP_003891	Q13501	SQSTM_HUMAN	Homo sapiens sequestosome 1 (SQSTM1), transcript variant 1, mRNA.	107	Interaction with PRKCZ and dimerization (By similarity).				anti-apoptosis|apoptosis|cell differentiation|endosome transport|induction of apoptosis by extracellular signals|intracellular signal transduction|macroautophagy|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein localization|regulation of I-kappaB kinase/NF-kappaB cascade|ubiquitin-dependent protein catabolic process	cytosol|late endosome|nucleoplasm	SH2 domain binding|protein kinase C binding|receptor tyrosine kinase binding|ubiquitin binding|zinc ion binding		SQSTM1/ALK(2)	NS(1)|breast(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(5)|ovary(1)	13	all_cancers(89;0.000205)|all_epithelial(37;7.15e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0395)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GAGTGCCGGCGGGACCACCGC	0.622000														38			31		0	0	1	0	0
ACVR1C	130399	broad.mit.edu	37	2	158395160	158395160	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:158395160C>T	uc002tzk.4	-	7	1524	c.1281G>A	c.(1279-1281)tcG>tcA	p.S427S	ACVR1C_uc002tzl.4_Silent_p.S347S|ACVR1C_uc010fof.3_Silent_p.S270S|ACVR1C_uc010foe.3_Silent_p.S377S	NM_145259	NP_001104501	Q8NER5	ACV1C_HUMAN	Homo sapiens activin A receptor, type IC (ACVR1C), transcript variant 1, mRNA.	427	Protein kinase.				apoptosis|cell differentiation|regulation of apoptosis	activin receptor complex	ATP binding|activin receptor activity, type I|transforming growth factor beta receptor activity	p.S427S(2)|p.S427*(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	42						TTTCCTCTATCGAGGGATCTG	0.363000														62			31		0	0	1	0	0
PKD1L2	114780	broad.mit.edu	37	16	81181860	81181860	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:81181860C>T	uc002fgh.1	-	28	4856	c.4856G>A	c.(4855-4857)cGt>cAt	p.R1619H	PKD1L2_uc002fgg.1_Non-coding_Transcript	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	Homo sapiens polycystic kidney disease 1-like 2 (PKD1L2), transcript variant 1, mRNA.	1619					neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GACCCGGGGACGGGTGTTCTG	0.567000														22			25		0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152557334	152557334	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:152557334T>C	uc021zhb.1	-	107	20527	c.20304A>G	c.(20302-20304)caA>caG	p.Q6768Q	SYNE1_uc003qos.4_Silent_p.Q1292Q|SYNE1_uc003qot.4_Silent_p.Q6697Q|SYNE1_uc003qou.4_Silent_p.Q6768Q	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	6768					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	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)		GTTGATTTAGTTGGCTTTCTA	0.373000										HNSCC(10;0.0054)				121			8		0	0	1	0	0
ESYT3	83850	broad.mit.edu	37	3	138189867	138189867	+	Splice_Site	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:138189867G>A	uc003esk.3	+	17	1966	c.1740_splice	c.e17+1	p.R580_splice	ESYT3_uc010hug.2_Splice_Site	NM_031913	NP_114119	A0FGR9	ESYT3_HUMAN	Homo sapiens extended synaptotagmin-like protein 3 (ESYT3), mRNA.	580						integral to membrane|plasma membrane				breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						CTGGTGCTTCGGGTAAATCTC	0.592000														68			8		0	0	1	0	0
CTRL	1506	broad.mit.edu	37	16	67964672	67964672	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:67964672C>T	uc002euw.3	-	3	298	c.275G>A	c.(274-276)cGa>cAa	p.R92Q	PSMB10_uc002eux.2_3'UTR	NM_001907	NP_001898	P40313	CTRL_HUMAN	Homo sapiens chymotrypsin-like (CTRL), mRNA.	92	Peptidase S1.				digestion|proteolysis	extracellular space	serine-type endopeptidase activity	p.S93fs*20(1)		kidney(1)|large_intestine(2)|urinary_tract(1)	4		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)		GTTTGATGATCGGTCATACTC	0.642000														27			19		0	0	1	0	0
PCOLCE	5118	broad.mit.edu	37	7	100205657	100205657	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100205657G>T	uc003uvo.3	+	8	1479	c.1281G>T	c.(1279-1281)caG>caT	p.Q427H		NM_002593	NP_002584	Q15113	PCOC1_HUMAN	Homo sapiens procollagen C-endopeptidase enhancer (PCOLCE), mRNA.	427	NTR.				multicellular organismal development	extracellular space	collagen binding|heparin binding|peptidase activator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					ACCAGGACCAGATCCTCACCA	0.617000														63			25		2.21704e-12	2.7329e-12	1	1	0
TMC5	79838	broad.mit.edu	37	16	19451377	19451377	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:19451377G>T	uc002dgc.4	+	2	766	c.17G>T	c.(16-18)aGg>aTg	p.R6M	TMC5_uc010vaq.2_Missense_Mutation_p.R6M|TMC5_uc002dgb.4_Missense_Mutation_p.R6M|TMC5_uc010var.2_Missense_Mutation_p.R6M	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN	Homo sapiens transmembrane channel-like 5 (TMC5), transcript variant 1, mRNA.	6						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						GCCTACTACAGGAATAACTGG	0.443000														76			6		1.12685e-05	1.25391e-05	1	1	0
SUSD1	64420	broad.mit.edu	37	9	114874116	114874116	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:114874116G>A	uc010mui.3	-	7	1030	c.989C>T	c.(988-990)tCc>tTc	p.S330F	MIR3134_uc022bma.1_Intron|SUSD1_uc004bfu.3_Missense_Mutation_p.S330F|SUSD1_uc010muj.3_Missense_Mutation_p.S330F			Q6UWL2	SUSD1_HUMAN	Homo sapiens sushi domain containing 1 (SUSD1), mRNA.	330						integral to membrane	calcium ion binding		SUSD1/ROD1(2)	central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						TCCTTTTATGGATATCTTTGA	0.468000														36			7		0	0	1	0	0
UPK3A	7380	broad.mit.edu	37	22	45681909	45681909	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:45681909G>A	uc003bfy.3	+	1	167	c.140G>A	c.(139-141)tGc>tAc	p.C47Y	UPK3A_uc010gzy.3_Missense_Mutation_p.C47Y	NM_006953	NP_008884	O75631	UPK3A_HUMAN	Homo sapiens uroplakin 3A (UPK3A), transcript variant 1, mRNA.	47					epithelial cell differentiation	endoplasmic reticulum membrane|integral to membrane				kidney(1)|large_intestine(1)|lung(2)|skin(1)	5		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		AAGCCTCTCTGCATGTTTGAC	0.572000														38			18		0	0	1	0	0
IGF2R	3482	broad.mit.edu	37	6	160483581	160483581	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:160483581G>T	uc003qta.3	+	25	3748	c.3600G>T	c.(3598-3600)caG>caT	p.Q1200H		NM_000876	NP_000867	P11717	MPRI_HUMAN	Homo sapiens insulin-like growth factor 2 receptor (IGF2R), mRNA.	1200					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		CAGCATTTCAGCTTCAGGATG	0.473000														30			9		9.70103e-10	1.16071e-09	1	1	0
abParts	0	broad.mit.edu	37	14	106714549	106714549	+	RNA	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:106714549C>T	uc021ser.1	-	1006		c.23307G>A								Parts of antibodies, mostly variable regions.																		GGGAGCCTGGCGGACCCCGCT	0.552000														36			7		0	0	1	0	0
OR8I2	120586	broad.mit.edu	37	11	55861327	55861327	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:55861327G>T	uc010rix.2	+	0	544	c.544G>T	c.(544-546)Gct>Tct	p.A182S		NM_001003750	NP_001003750	Q8N0Y5	OR8I2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily I, member 2 (OR8I2), mRNA.	182					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					TGACACCACAGCTCTTTTAGC	0.428000														107			11		1.5842e-08	1.86177e-08	1	1	0
ARMCX5-GPRASP2	100528062	broad.mit.edu	37	X	101971332	101971332	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:101971332G>A	uc022cbh.1	+	0	1535	c.1535G>A	c.(1534-1536)aGc>aAc	p.S512N	ARMCX5-GPRASP2_uc022cay.1_Missense_Mutation_p.S512N|ARMCX5-GPRASP2_uc022cbe.1_Missense_Mutation_p.S512N|ARMCX5-GPRASP2_uc004ejl.3_Missense_Mutation_p.S512N|ARMCX5-GPRASP2_uc022cbf.1_Missense_Mutation_p.S512N|ARMCX5-GPRASP2_uc022cbg.1_Missense_Mutation_p.S512N|ARMCX5-GPRASP2_uc004ejm.3_Missense_Mutation_p.S512N|ARMCX5-GPRASP2_uc004ejk.3_Missense_Mutation_p.S512N	NM_001199818	NP_001186747	Q96D09	GASP2_HUMAN	Homo sapiens ARMCX5-GPRASP2 readthrough (ARMCX5-GPRASP2), mRNA.	512						cytoplasm	protein binding										CGATCCACAAGCCCCTTTGGA	0.512000														100			12		0	0	1	0	0
PPP2R2C	5522	broad.mit.edu	37	4	6473900	6473900	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:6473900G>A	uc003gjc.3	-	0	274	c.57C>T	c.(55-57)agC>agT	p.S19S	PPP2R2C_uc011bwd.2_Intron|PPP2R2C_uc011bwe.2_Intron	NM_001206996	NP_001193925	Q9Y2T4	2ABG_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B, gamma (PPP2R2C), transcript variant 5, mRNA.	19					signal transduction	protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	28						CAGTCACATAGCTGTGGTCCC	0.647000														55			28		0	0	1	0	0
SIRPB1	10326	broad.mit.edu	37	20	1559045	1559045	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:1559045C>A	uc010gai.3	-	1	471	c.372G>T	c.(370-372)cgG>cgT	p.R124R	SIRPB1_uc002wfk.4_Silent_p.R124R	NM_006065	NP_006056	O00241	SIRB1_HUMAN	Homo sapiens signal-regulatory protein beta 1 (SIRPB1), transcript variant 1, mRNA.	124	Ig-like V-type.				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding			central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						GGCTCCCTTTCCGGAACTTCA	0.547000														77			40		1.68508e-10	2.03644e-10	1	1	0
CCDC40	55036	broad.mit.edu	37	17	78023713	78023713	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:78023713G>T	uc010dht.3	+	5	895	c.864G>T	c.(862-864)atG>atT	p.M288I	CCDC40_uc010wub.2_Missense_Mutation_p.M288I|CCDC40_uc021uem.1_Missense_Mutation_p.M288I|CCDC40_uc002jxm.4_Missense_Mutation_p.M71I	NM_017950	NP_060420	Q4G0X9	CCD40_HUMAN	Homo sapiens coiled-coil domain containing 40 (CCDC40), transcript variant 1, mRNA.	288					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			AGCCCCTGATGGTAAGATTCC	0.567000														25			3		0.004672	0.00486265	1	1	0
GPR98	84059	broad.mit.edu	37	5	89989955	89989955	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:89989955C>T	uc003kju.3	+	32	7478	c.7382C>T	c.(7381-7383)cCc>cTc	p.P2461L	GPR98_uc003kjt.3_Missense_Mutation_p.P167L|GPR98_uc003kjv.3_Missense_Mutation_p.P61L	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	2461					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TCTGAGGGTCCCCAGTGTTTC	0.483000														19			22		0	0	1	0	0
RASSF1	11186	broad.mit.edu	37	3	50368872	50368872	+	Missense_Mutation	SNP	G	A	A	rs146926693		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:50368872G>A	uc003dad.1	-	4	912	c.781C>T	c.(781-783)Cgg>Tgg	p.R261W	RASSF1_uc003daa.1_Missense_Mutation_p.R106W|RASSF1_uc003dab.1_Missense_Mutation_p.R187W|RASSF1_uc003dac.2_Missense_Mutation_p.R106W|RASSF1_uc003dae.1_Missense_Mutation_p.R257W|RASSF1_uc003daf.1_Missense_Mutation_p.R106W|RASSF1_uc010hlk.1_Non-coding_Transcript	NM_170714	NP_733830	Q9NS23	RASF1_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) domain family member 1 (RASSF1), transcript variant D, mRNA.	261	Ras-associating.				Ras protein signal transduction|cell cycle arrest|negative regulation of cell cycle arrest|positive regulation of protein ubiquitination|protein stabilization|response to DNA damage stimulus	microtubule|microtubule cytoskeleton|microtubule organizing center|nucleus|spindle pole	identical protein binding|protein N-terminus binding|protein binding|zinc ion binding			lung(2)|ovary(1)|skin(1)|urinary_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000278)|OV - Ovarian serous cystadenocarcinoma(275;0.0015)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		AACAGCTTCCGCAAGTACACT	0.582000														20			17		0	0	1	0	0
DHCR24	1718	broad.mit.edu	37	1	55340771	55340771	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:55340771T>C	uc001cyc.1	-	3	736	c.607A>G	c.(607-609)Act>Gct	p.T203A	DHCR24_uc010ooj.1_Missense_Mutation_p.T65A|DHCR24_uc010ook.1_Missense_Mutation_p.T162A	NM_014762	NP_055577	Q15392	DHC24_HUMAN	Homo sapiens 24-dehydrocholesterol reductase (DHCR24), mRNA.	203	FAD-binding PCMH-type.				anti-apoptosis|apoptosis|cell cycle arrest|cholesterol biosynthetic process|negative regulation of caspase activity|neuroprotection|response to oxidative stress|skin development	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|nucleus	delta24-sterol reductase activity|enzyme binding|flavin adenine dinucleotide binding|peptide antigen binding			large_intestine(2)|liver(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7						CTCACCGGAGTGCATCGCACA	0.567000														30			12		0	0	1	0	0
RERE	473	broad.mit.edu	37	1	8418647	8418647	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:8418647C>T	uc001ape.3	-	20	4758	c.3948G>A	c.(3946-3948)gaG>gaA	p.E1316E	RERE_uc001apf.3_Silent_p.E1316E|RERE_uc001apd.3_Silent_p.E762E	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN	Homo sapiens arginine-glutamic acid dipeptide (RE) repeats (RERE), transcript variant 1, mRNA.	1316	Arg/Glu-rich (mixed charge).				NLS-bearing substrate import into nucleus|multicellular organismal development	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		GCAGCTCCCGCTCTCGGATCT	0.692000														16			6		0	0	1	0	0
PRRC2C	23215	broad.mit.edu	37	1	171553178	171553178	+	Missense_Mutation	SNP	T	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:171553178T>A	uc010pmg.2	+	28	7753	c.7487T>A	c.(7486-7488)gTc>gAc	p.V2496D	PRRC2C_uc010pmh.2_Missense_Mutation_p.V1408D|PRRC2C_uc010pmi.2_Missense_Mutation_p.V333D|PRRC2C_uc010pmj.2_Missense_Mutation_p.V23D	NM_015172	NP_055987	Q9Y520	PRC2C_HUMAN	Homo sapiens proline-rich coiled-coil 2C (PRRC2C), mRNA.	2496	Gln-rich.						protein C-terminus binding										TTTCCAACTGTCCAACACCAA	0.438000														115			20		0	0	1	0	0
SPTBN1	6711	broad.mit.edu	37	2	54858298	54858298	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:54858298C>T	uc002rxu.3	+	15	3363	c.3114C>T	c.(3112-3114)gcC>gcT	p.A1038A	SPTBN1_uc002rxx.3_Silent_p.A1025A	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 1 (SPTBN1), transcript variant 1, mRNA.	1038					actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			CTCGGCTGGCCGAGATCAGCG	0.627000														49			23		0	0	1	0	0
QRSL1	55278	broad.mit.edu	37	6	107113856	107113856	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:107113856C>A	uc003prm.3	+	10	1682	c.1566C>A	c.(1564-1566)gcC>gcA	p.A522A		NM_018292	NP_060762	Q9H0R6	QRSL1_HUMAN	Homo sapiens glutaminyl-tRNA synthase (glutamine-hydrolyzing)-like 1 (QRSL1), mRNA.	522					translation		ATP binding|carbon-nitrogen ligase activity, with glutamine as amido-N-donor			endometrium(2)|kidney(1)|large_intestine(4)|lung(4)	11	Breast(9;0.0107)|all_epithelial(6;0.14)	all_cancers(87;0.00768)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.248)	Epithelial(6;0.000334)|all cancers(7;0.00157)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0152)	BRCA - Breast invasive adenocarcinoma(108;0.118)|all cancers(137;0.167)|Epithelial(106;0.176)		AAAAGTTAGCCTCTGTCTCTC	0.393000														26			15		5.01169e-05	5.49149e-05	1	1	0
FICD	11153	broad.mit.edu	37	12	108912950	108912950	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:108912950C>T	uc001tmx.1	+	2	1221	c.1075C>T	c.(1075-1077)Ctc>Ttc	p.L359F		NM_007076	NP_009007	Q9BVA6	FICD_HUMAN	Homo sapiens FIC domain containing (FICD), mRNA.	359	Fido.				negative regulation of Rho GTPase activity	integral to membrane	binding|protein adenylyltransferase activity			NS(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|upper_aerodigestive_tract(2)	15						CCATTATAAACTCGTTTACAT	0.542000														54			43		0	0	1	0	0
RPTN	126638	broad.mit.edu	37	1	152128585	152128585	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:152128585G>T	uc001ezs.1	-	2	1055	c.990C>A	c.(988-990)caC>caA	p.H330Q		NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN	Homo sapiens repetin (RPTN), mRNA.	330	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding	p.H330N(1)		breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						GCTGACTGTAGTGGGAACTCT	0.488000														736			64		1.34159e-35	1.77875e-35	1	1	0
A1CF	29974	broad.mit.edu	37	10	52601697	52601697	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:52601697C>T	uc001jjj.3	-	4	478	c.290G>A	c.(289-291)gGa>gAa	p.G97E	A1CF_uc010qho.2_Missense_Mutation_p.G105E|A1CF_uc010qhn.2_Missense_Mutation_p.G105E|A1CF_uc009xov.3_Missense_Mutation_p.G97E|A1CF_uc001jji.3_Missense_Mutation_p.G97E|A1CF_uc001jjh.3_Missense_Mutation_p.G105E|A1CF_uc001jjk.1_Missense_Mutation_p.G97E	NM_138932	NP_620310	Q9NQ94	A1CF_HUMAN	Homo sapiens APOBEC1 complementation factor (A1CF), transcript variant 2, mRNA.	97	RRM 1.				cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						AAATGCATATCCTCTATTGTT	0.294000														38			17		0	0	1	0	0
RSPH4A	345895	broad.mit.edu	37	6	116948877	116948877	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:116948877G>A	uc003pxe.2	+	2	1152	c.1007G>A	c.(1006-1008)cGc>cAc	p.R336H	RSPH4A_uc010kee.2_Missense_Mutation_p.R336H	NM_001010892	NP_001010892	Q5TD94	RSH4A_HUMAN	Homo sapiens radial spoke head 4 homolog A (Chlamydomonas) (RSPH4A), transcript variant 1, mRNA.	336					cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton|radial spoke		p.R336H(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						GAGACATACCGCATATTTCTT	0.438000									Kartagener syndrome					54			30		0	0	1	0	0
PNMA2	10687	broad.mit.edu	37	8	26366088	26366088	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:26366088C>T	uc022atc.1	-	0	184	c.184G>A	c.(184-186)Gcc>Acc	p.A62T	PNMA2_uc003xez.2_Missense_Mutation_p.A62T	NM_007257	NP_009188	Q9UL42	PNMA2_HUMAN	Homo sapiens paraneoplastic antigen MA2 (PNMA2), mRNA.	62					apoptosis	nucleolus	protein binding	p.A62V(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)	11		all_cancers(63;0.109)|Ovarian(32;2.61e-05)|all_epithelial(46;0.105)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0196)|Epithelial(17;3.13e-11)|Colorectal(74;0.123)		acagcattggcattctcctgc	0.502000														61			10		0	0	1	0	0
VRK3	51231	broad.mit.edu	37	19	50500782	50500782	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:50500782G>A	uc002prg.2	-	6	756	c.658C>T	c.(658-660)Cgg>Tgg	p.R220W	VRK3_uc002prh.1_Missense_Mutation_p.R220W|VRK3_uc002pri.1_Missense_Mutation_p.R170W|VRK3_uc010ens.2_Missense_Mutation_p.R220W|VRK3_uc010ybl.1_Missense_Mutation_p.R170W|VRK3_uc010ybm.1_Intron|VRK3_uc002prk.2_Missense_Mutation_p.R220W|VRK3_uc010ent.2_5'UTR|VRK3_uc002prl.3_Missense_Mutation_p.R220W|VRK3_uc010ybn.1_Intron	NM_016440	NP_057524	Q8IV63	VRK3_HUMAN	Homo sapiens vaccinia related kinase 3 (VRK3), transcript variant 1, mRNA.	220	Protein kinase.					nucleus	ATP binding|protein kinase activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)|stomach(2)|urinary_tract(1)	23		all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00166)|OV - Ovarian serous cystadenocarcinoma(262;0.00652)		TTGGCGGCCCGCTGGAAGAAG	0.592000														7			16		0	0	1	0	0
CBR4	84869	broad.mit.edu	37	4	169928023	169928023	+	Missense_Mutation	SNP	T	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:169928023T>A	uc003iry.3	-	2	511	c.283A>T	c.(283-285)Aca>Tca	p.T95S	CBR4_uc011cjy.2_Non-coding_Transcript|CBR4_uc003irz.2_Missense_Mutation_p.T95S	NM_032783	NP_116172	Q8N4T8	CBR4_HUMAN	Homo sapiens carbonyl reductase 4 (CBR4), mRNA.	95					fatty acid biosynthetic process|protein homotetramerization	mitochondrial matrix	NADPH binding|NADPH dehydrogenase (quinone) activity|protein binding|quinone binding			kidney(1)|large_intestine(2)|lung(2)	5		Prostate(90;0.00263)|Renal(120;0.0183)|Melanoma(52;0.123)		GBM - Glioblastoma multiforme(119;0.0321)		TCAGTTTTTGTTCTTACTAAA	0.353000														111			76		0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152329824	152329824	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:152329824G>T	uc001ezw.4	-	2	511	c.438C>A	c.(436-438)caC>caA	p.H146Q	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	146	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTCCCCTTGAGTGCCCAGAAC	0.463000														201			37		6.33695e-27	8.31592e-27	1	1	0
C16orf88	400506	broad.mit.edu	37	16	19725574	19725574	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:19725574G>T	uc002dgq.3	-	1	799	c.784C>A	c.(784-786)Cct>Act	p.P262T	IQCK_uc002dgr.3_5'Flank|IQCK_uc002dgs.3_5'Flank	NM_001012991	NP_001013009	Q1ED39	CP088_HUMAN	Homo sapiens chromosome 16 open reading frame 88 (C16orf88), mRNA.	262	Lys-rich.					nucleolus				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|stomach(1)|urinary_tract(1)	13						GAGGCCTTAGGGTCATCACTT	0.483000														95			10		1.76689e-08	2.07166e-08	1	1	0
SNX4	8723	broad.mit.edu	37	3	125170247	125170247	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:125170247C>T	uc003eib.3	-	12	1249	c.1207G>A	c.(1207-1209)Gca>Aca	p.A403T	SNX4_uc011bkf.2_Missense_Mutation_p.A258T	NM_003794	NP_003785	O95219	SNX4_HUMAN	Homo sapiens sorting nexin 4 (SNX4), mRNA.	403					cell communication|endocytic recycling|endocytosis|protein transport	cytoplasmic dynein complex|early endosome membrane	phosphatidylinositol binding|protein binding			breast(2)|central_nervous_system(1)|lung(6)|ovary(1)|skin(1)	11						TCAGCCCATGCGTTTTTCACA	0.358000														89			45		0	0	1	0	0
PTGFR	5737	broad.mit.edu	37	1	79002308	79002308	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:79002308A>C	uc001din.3	+	2	1282	c.1016A>C	c.(1015-1017)aAa>aCa	p.K339T	PTGFR_uc001dim.3_3'UTR	NM_000959	NP_000950	P43088	PF2R_HUMAN	Homo sapiens prostaglandin F receptor (FP) (PTGFR), transcript variant 1, mRNA.	339					parturition	extracellular region|integral to plasma membrane	prostaglandin F receptor activity			breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287)	AGTTCCATTAAAAATTCCTTA	0.418000														93			9		0	0	1	0	0
OVCH1	341350	broad.mit.edu	37	12	29607774	29607774	+	Splice_Site	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:29607774C>T	uc001rix.1	-	21	2530	c.2530_splice	c.e21+1	p.G844_splice		NM_183378	NP_899234	Q7RTY7	OVCH1_HUMAN	Homo sapiens ovochymase 1 (OVCH1), mRNA.	844					proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					CATTTATTACCTGGCCAAGAT	0.373000														14			7		0	0	1	0	0
MED13L	23389	broad.mit.edu	37	12	116457747	116457747	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:116457747G>A	uc001tvw.3	-	5	711	c.656C>T	c.(655-657)aCg>aTg	p.T219M		NM_015335	NP_056150	Q71F56	MD13L_HUMAN	Homo sapiens mediator complex subunit 13-like (MED13L), mRNA.	219					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent			p.T219T(1)		NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		GCCTGTTAGCGTCCCATTTAA	0.408000														44			11		0	0	1	0	0
TTC23	64927	broad.mit.edu	37	15	99696369	99696369	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:99696369C>T	uc002bur.3	-	10	1658	c.1127G>A	c.(1126-1128)cGc>cAc	p.R376H	TTC23_uc002bus.3_Missense_Mutation_p.R376H|TTC23_uc002but.3_Missense_Mutation_p.R376H|TTC23_uc002buu.3_Missense_Mutation_p.R376H|TTC23_uc002buv.3_Missense_Mutation_p.R376H|TTC23_uc002bux.3_Missense_Mutation_p.R376H|TTC23_uc002buw.3_Missense_Mutation_p.R376H|TTC23_uc010boq.3_Non-coding_Transcript|TTC23_uc002buy.3_Missense_Mutation_p.R376H|TTC23_uc010bor.3_Missense_Mutation_p.R376H|TTC23_uc002buz.2_Missense_Mutation_p.R376H	NM_022905	NP_075056	Q5W5X9	TTC23_HUMAN	Homo sapiens tetratricopeptide repeat domain 23 (TTC23), transcript variant 2, mRNA.	376							binding			endometrium(2)|large_intestine(3)|lung(9)|urinary_tract(2)	16	all_cancers(4;1.49e-13)|Lung NSC(78;0.000545)|all_lung(78;0.00121)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		all cancers(5;8.11e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00215)			CAGTTTCTTGCGGGCCCCACT	0.557000														36			17		0	0	1	0	0
HECW1	23072	broad.mit.edu	37	7	43519258	43519258	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:43519258G>A	uc003tid.1	+	16	3754	c.3149G>A	c.(3148-3150)cGa>cAa	p.R1050Q	HECW1_uc011kbi.1_Missense_Mutation_p.R1016Q	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 (HECW1), mRNA.	1050	WW 2.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						ATTGACCCCCGAATCCCTCTT	0.517000														103			45		0	0	1	0	0
GALNT5	11227	broad.mit.edu	37	2	158114767	158114767	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:158114767G>T	uc002tzg.3	+	0	428	c.173G>T	c.(172-174)aGa>aTa	p.R58I	GALNT5_uc010zci.2_Non-coding_Transcript	NM_014568	NP_055383	Q7Z7M9	GALT5_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5) (GALNT5), mRNA.	58					glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						ATAGGATTCAGAGTTCAGCCA	0.488000														92			58		8.77104e-35	1.16219e-34	1	1	0
MYO9B	4650	broad.mit.edu	37	19	17298836	17298836	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:17298836C>T	uc010eak.3	+	18	2822	c.2670C>T	c.(2668-2670)agC>agT	p.S890S	MYO9B_uc002nfi.3_Silent_p.S890S|MYO9B_uc002nfj.1_Silent_p.S890S	NM_004145	NP_004136	Q13459	MYO9B_HUMAN	Homo sapiens myosin IXB (MYO9B), transcript variant 1, mRNA.	890	Myosin head-like.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	ADP binding|ATP binding|ATPase activity|Rho GTPase activator activity|actin binding|calmodulin binding|metal ion binding|microfilament motor activity			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						CAGGGTACAGCGCCAAGTACA	0.572000														5			7		0	0	1	0	0
NAV2	89797	broad.mit.edu	37	11	20124899	20124899	+	Silent	SNP	C	T	T	rs138671489	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:20124899C>T	uc010rdm.2	+	34	7045	c.6684C>T	c.(6682-6684)caC>caT	p.H2228H	NAV2_uc001mpp.3_Silent_p.H2108H|NAV2_uc001mpr.4_Silent_p.H2172H|NAV2_uc021qew.1_Silent_p.H2175H|NAV2_uc009yhx.3_Silent_p.H1236H|NAV2_uc009yhz.3_Silent_p.H817H|NAV2_uc001mpu.3_Silent_p.H610H|NAV2_uc001mpv.3_5'Flank	NM_001244963	NP_001231892	Q8IVL1	NAV2_HUMAN	Homo sapiens neuron navigator 2 (NAV2), transcript variant 5, mRNA.	2231						nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						ACCTACACCACGTGAGCTCTC	0.542000														49			21		0	0	1	0	0
SLC43A3	29015	broad.mit.edu	37	11	57182424	57182424	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:57182424C>T	uc010rjr.2	-	9	1306	c.964G>A	c.(964-966)Ggt>Agt	p.G322S	SLC43A3_uc001nke.3_Missense_Mutation_p.G208S|SLC43A3_uc001nkg.3_Missense_Mutation_p.G309S|SLC43A3_uc001nkh.3_Missense_Mutation_p.G309S|SLC43A3_uc009yme.3_Missense_Mutation_p.G309S|SLC43A3_uc001nki.3_Missense_Mutation_p.G309S|SLC43A3_uc009ymf.1_Missense_Mutation_p.G309S	NM_199329	NP_955361	Q8NBI5	S43A3_HUMAN	Homo sapiens solute carrier family 43, member 3 (SLC43A3), mRNA.	309					transmembrane transport	integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						ATGTCCCCACCGGCCATGTTG	0.592000														57			12		0	0	1	0	0
SFMBT2	57713	broad.mit.edu	37	10	7212972	7212972	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:7212972G>A	uc009xio.2	-	19	2553	c.2462C>T	c.(2461-2463)cCg>cTg	p.P821L	SFMBT2_uc001ijn.2_Missense_Mutation_p.P821L|SFMBT2_uc010qay.2_Missense_Mutation_p.P656L	NM_001018039	NP_001018049	Q5VUG0	SMBT2_HUMAN	Homo sapiens Scm-like with four mbt domains 2 (SFMBT2), transcript variant 2, mRNA.	821					regulation of transcription, DNA-dependent	nucleus				NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						CCACTCCAACGGGTTGCTCTC	0.592000														79			32		0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113170044	113170044	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:113170044G>A	uc010mtz.3	-	37	8173	c.7836C>T	c.(7834-7836)gaC>gaT	p.D2612D	SVEP1_uc010mty.3_Silent_p.D538D	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	2612					cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GGAGGCCACAGTCTATTGGCA	0.463000														108			68		0	0	1	0	0
NOTCH2	4853	broad.mit.edu	37	1	120458048	120458048	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:120458048C>T	uc001eik.3	-	33	7594	c.7297G>A	c.(7297-7299)Gct>Act	p.A2433T		NM_024408	NP_077719	Q04721	NOTC2_HUMAN	Homo sapiens notch 2 (NOTCH2), transcript variant 1, mRNA.	2433					Notch receptor processing|Notch signaling pathway|anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		CAGTCAGAAGCAGAGTGGGGT	0.597000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome					87			10		0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152560749	152560749	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:152560749G>T	uc021zhb.1	-	105	20209	c.19986C>A	c.(19984-19986)ttC>ttA	p.F6662L	SYNE1_uc003qos.4_Missense_Mutation_p.F1186L|SYNE1_uc003qot.4_Missense_Mutation_p.F6591L|SYNE1_uc003qou.4_Missense_Mutation_p.F6662L	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	6662					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding	p.Q6661R(1)		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)		GCTCTGTATGGAACTGGGTTT	0.458000										HNSCC(10;0.0054)				35			28		4.22769e-11	5.1512e-11	1	1	0
EPPK1	83481	broad.mit.edu	37	8	144941538	144941538	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:144941538C>T	uc003zaa.1	-	0	5897	c.5884G>A	c.(5884-5886)Gag>Aag	p.E1962K		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	1962						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CGCAGCTCCTCGTTCACCAGG	0.652000														48			32		0	0	1	0	0
FAT2	2196	broad.mit.edu	37	5	150934222	150934222	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:150934222C>T	uc003lue.4	-	3	3659	c.3646G>A	c.(3646-3648)Gac>Aac	p.D1216N		NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	1216	Cadherin 10.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCCCCATTGTCCAGCACAGTC	0.473000														39			24		0	0	1	0	0
C1orf96	126731	broad.mit.edu	37	1	229462700	229462700	+	Nonsense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:229462700C>A	uc001htl.4	-	2	499	c.421G>T	c.(421-423)Gag>Tag	p.E141*	C1orf96_uc009xfc.3_Non-coding_Transcript	NM_145257	NP_660300	Q6IQ19	CA096_HUMAN	Homo sapiens chromosome 1 open reading frame 96 (C1orf96), mRNA.	141						centrosome				breast(1)|endometrium(1)|large_intestine(4)|lung(3)	9	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.178)				TTGTCAGTCTCTCTTGTTCTG	0.403000														137			20		1.15919e-05	1.28923e-05	1	1	0
NCKAP1	10787	broad.mit.edu	37	2	183853816	183853816	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:183853816G>A	uc002upc.3	-	8	1291	c.889C>T	c.(889-891)Cgg>Tgg	p.R297W	NCKAP1_uc002upb.3_Missense_Mutation_p.R303W	NM_013436	NP_038464	Q9Y2A7	NCKP1_HUMAN	Homo sapiens NCK-associated protein 1 (NCKAP1), transcript variant 1, mRNA.	297					apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding			breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			ACTTCATCCCGAAAGAGAGAG	0.403000														44			25		0	0	1	0	0
APOBEC3H	164668	broad.mit.edu	37	22	39497438	39497438	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:39497438G>A	uc021wpt.1	+	2	474	c.347G>A	c.(346-348)tGc>tAc	p.C116Y	APOBEC3H_uc021wps.1_Missense_Mutation_p.C116Y|APOBEC3H_uc021wpu.1_Missense_Mutation_p.C116Y|APOBEC3H_uc021wpv.1_Missense_Mutation_p.C116Y	NM_001166003	NP_001159475	Q6NTF7	ABC3H_HUMAN	Homo sapiens apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3H (APOBEC3H), transcript variant 1, mRNA.	116					DNA cytosine deamination|negative regulation of retroviral genome replication|negative regulation of transposition	cytoplasm|nucleus	cytidine deaminase activity|zinc ion binding	p.W115*(1)		central_nervous_system(1)|kidney(8)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	15	Melanoma(58;0.04)					TACCACTGGTGCAAGCCCCAG	0.592000														32			4		0	0	1	0	0
TEP1	7011	broad.mit.edu	37	14	20854314	20854314	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:20854314G>A	uc001vxe.3	-	19	2942	c.2902C>T	c.(2902-2904)Ctg>Ttg	p.L968L	TEP1_uc010ahk.3_Silent_p.L318L|TEP1_uc010tlf.1_Non-coding_Transcript|TEP1_uc010tlg.1_Silent_p.L860L	NM_007110	NP_009041	Q99973	TEP1_HUMAN	Homo sapiens telomerase-associated protein 1 (TEP1), mRNA.	968					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CCCACAAACAGCTGTGCGTTC	0.542000														93			8		0	0	1	0	0
KIAA2013	90231	broad.mit.edu	37	1	11983416	11983416	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:11983416G>T	uc001atl.2	-	1	1355	c.1164C>A	c.(1162-1164)gaC>gaA	p.D388E	KIAA2013_uc001atk.3_Missense_Mutation_p.D388E	NM_138346	NP_612355	Q8IYS2	K2013_HUMAN	Homo sapiens KIAA2013 (KIAA2013), mRNA.	388						integral to membrane				endometrium(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	7	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ACTCCATCTGGTCTCGCTCCC	0.642000														42			5		0.014758	0.0151755	1	1	0
IL12B	3593	broad.mit.edu	37	5	158753738	158753738	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:158753738G>T	uc003lxr.1	-	1	95	c.53C>A	c.(52-54)tCt>tAt	p.S18Y		NM_002187	NP_002178	P29460	IL12B_HUMAN	Homo sapiens interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40) (IL12B), mRNA.	18					T-helper 1 type immune response|T-helper cell differentiation|cell cycle arrest|cell migration|defense response to Gram-negative bacterium|interferon-gamma biosynthetic process|natural killer cell activation|negative regulation of interleukin-10 production|negative regulation of interleukin-17 production|negative regulation of smooth muscle cell proliferation|positive regulation of NF-kappaB import into nucleus|positive regulation of NK T cell activation|positive regulation of NK T cell proliferation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of activated T cell proliferation|positive regulation of activation of JAK2 kinase activity|positive regulation of cell adhesion|positive regulation of defense response to virus by host|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-17 production|positive regulation of memory T cell differentiation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|positive regulation of natural killer cell proliferation|positive regulation of osteoclast differentiation|positive regulation of smooth muscle cell apoptosis|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat4 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|regulation of tyrosine phosphorylation of Stat1 protein|response to UV-B|sexual reproduction	interleukin-12 complex|interleukin-23 complex|membrane	cytokine activity|cytokine receptor activity|interleukin-12 receptor binding|protein heterodimerization activity			cervix(1)|endometrium(1)|large_intestine(5)|lung(4)	11	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CACGAGGGGAGATGCCAGAAA	0.507000														25			17		7.41877e-09	8.75093e-09	1	1	0
NEK8	284086	broad.mit.edu	37	17	27064985	27064985	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:27064985C>T	uc002hcp.3	+	6	1038	c.1038C>T	c.(1036-1038)ggC>ggT	p.G346G		NM_178170	NP_835464	Q86SG6	NEK8_HUMAN	Homo sapiens NIMA (never in mitosis gene a)- related kinase 8 (NEK8), mRNA.	346						cytoplasm|primary cilium	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Lung NSC(42;0.0158)					AGAAAGCCGGCGTCACGCGCT	0.682000														25			10		0	0	1	0	0
ESYT1	23344	broad.mit.edu	37	12	56530574	56530574	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56530574C>A	uc001sjr.3	+	15	1827	c.1709C>A	c.(1708-1710)cCt>cAt	p.P570H	ESYT1_uc001sjq.3_Missense_Mutation_p.P560H	NM_001184796	NP_001171725	Q9BSJ8	ESYT1_HUMAN	Homo sapiens extended synaptotagmin-like protein 1 (ESYT1), transcript variant 1, mRNA.	560						integral to membrane				breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						CTGACGCTGCCTCTGGCCCGC	0.552000														36			5		0.217242	0.21859	1	1	0
SCN3B	55800	broad.mit.edu	37	11	123513313	123513313	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:123513313C>A	uc001pza.1	-	3	693	c.286G>T	c.(286-288)Ggc>Tgc	p.G96C	SCN3B_uc001pzb.1_Missense_Mutation_p.G96C	NM_001040151	NP_060870	Q9NY72	SCN3B_HUMAN	Homo sapiens sodium channel, voltage-gated, type III, beta (SCN3B), transcript variant 2, mRNA.	96	Ig-like C2-type.				axon guidance	integral to membrane|plasma membrane	voltage-gated sodium channel activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|skin(2)	26		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0227)		TCCTTGCTGCCATTCCACTGC	0.567000														68			5		0.217242	0.21859	1	1	0
ZNF609	23060	broad.mit.edu	37	15	64791910	64791910	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:64791910G>T	uc002ann.3	+	0	292	c.292G>T	c.(292-294)Gac>Tac	p.D98Y	ZNF609_uc010bgy.3_Missense_Mutation_p.D98Y	NM_015042	NP_055857	O15014	ZN609_HUMAN	Homo sapiens zinc finger protein 609 (ZNF609), mRNA.	98						nucleus	zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GAGTGGCAAAGACACTAGCAA	0.532000														63			23		2.32416e-17	2.96135e-17	1	1	0
LOC646214	646214	broad.mit.edu	37	15	21938079	21938079	+	RNA	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:21938079C>T	uc010tzj.1	-	0		c.2661G>A								Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 2 pseudogene (LOC646214), non-coding RNA.																		TGCTCATTCGCACGGGAGGTG	0.507000														181			20		0	0	1	0	0
SACS	26278	broad.mit.edu	37	13	23911318	23911318	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:23911318T>C	uc001uon.2	-	9	7286	c.6697A>G	c.(6697-6699)Agt>Ggt	p.S2233G	SACS_uc001uoo.2_Missense_Mutation_p.S2086G|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA.	2233					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|Hsp70 protein binding|chaperone binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		GGCTTAAAACTGTTGCCTTTC	0.383000														48			7		0	0	1	0	0
TCEANC	170082	broad.mit.edu	37	X	13680768	13680768	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:13680768T>C	uc010neg.1	+	3	476	c.231T>C	c.(229-231)gaT>gaC	p.D77D	TCEANC_uc010nef.1_Silent_p.D47D|TCEANC_uc010nee.2_Silent_p.D47D|TCEANC_uc004cvk.2_Silent_p.D47D|TCEANC_uc004cvl.3_5'Flank	NM_152634	NP_689847	Q8N8B7	TEANC_HUMAN	Homo sapiens transcription elongation factor A (SII) N-terminal and central domain containing (TCEANC), mRNA.	47	TFIIS N-terminal.				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding			central_nervous_system(1)|large_intestine(5)|lung(2)|pancreas(1)	9						AGGAGACAGATGTGGTCAGAG	0.428000														78			8		0	0	1	0	0
ADCY2	108	broad.mit.edu	37	5	7817086	7817086	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:7817086G>A	uc003jdz.1	+	22	3058	c.2991G>A	c.(2989-2991)ttG>ttA	p.L997L	ADCY2_uc011cmo.1_Silent_p.L817L|ADCY2_uc010itm.1_Silent_p.L193L	NM_020546	NP_065433	Q08462	ADCY2_HUMAN	Homo sapiens adenylate cyclase 2 (brain) (ADCY2), mRNA.	997					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						ACTTCAAATTGCGAGTGGGTA	0.478000											OREG0016499	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		27			13		0	0	1	0	0
PDPR	55066	broad.mit.edu	37	16	70187441	70187441	+	Nonsense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:70187441G>T	uc002eyf.1	+	17	3157	c.2200G>T	c.(2200-2202)Gaa>Taa	p.E734*	CLEC18A_uc002exy.3_Intron|PDPR_uc010vlr.1_Nonsense_Mutation_p.E634*|PDPR_uc002eyg.1_Intron|PDPR_uc002eyh.2_Nonsense_Mutation_p.E79*|PDPR_uc010vls.1_Nonsense_Mutation_p.E79*	NM_017990	NP_060460	Q8NCN5	PDPR_HUMAN	Homo sapiens pyruvate dehydrogenase phosphatase regulatory subunit (PDPR), mRNA.	734					glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	aminomethyltransferase activity|oxidoreductase activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33				BRCA - Breast invasive adenocarcinoma(221;0.124)		CACGCCCCTGGAATGTGGACG	0.488000														18			6		0.00116845	0.00123466	1	1	0
PKN3	29941	broad.mit.edu	37	9	131479061	131479061	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:131479061G>A	uc004bvw.3	+	15	2237	c.1844G>A	c.(1843-1845)gGc>gAc	p.G615D	PKN3_uc010myh.3_Missense_Mutation_p.G615D|PKN3_uc022bom.1_Non-coding_Transcript	NM_013355	NP_037487	Q6P5Z2	PKN3_HUMAN	Homo sapiens protein kinase N3 (PKN3), mRNA.	615	Protein kinase.				signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein binding|protein kinase C activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						GAGGCTGTGGGCTGCACAGGG	0.582000														62			50		0	0	1	0	0
ZNF667	63934	broad.mit.edu	37	19	56972075	56972075	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:56972075C>T	uc002qne.3	-	4	934	c.143G>A	c.(142-144)cGg>cAg	p.R48Q	ZNF667_uc010etl.3_5'UTR|ZNF667_uc002qnd.3_Missense_Mutation_p.R48Q|ZNF667_uc010etm.3_5'UTR	NM_022103	NP_071386	Q5HYK9	ZN667_HUMAN	Homo sapiens zinc finger protein 667 (ZNF667), transcript variant 1, mRNA.	48	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		GACCAGGTTCCGGTAATTCTC	0.502000														40			14		0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135405204	135405204	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:135405204A>G	uc004ezu.1	+	4	629	c.338A>G	c.(337-339)cAc>cGc	p.H113R	GPR112_uc010nsb.1_Intron	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	113					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.H113H(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					ATCCGTCACCACCTGGCTTCA	0.443000														182			23		0	0	1	0	0
TCFL5	10732	broad.mit.edu	37	20	61488955	61488955	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:61488955G>A	uc002ydp.3	-	3	1123	c.1030C>T	c.(1030-1032)Cgg>Tgg	p.R344W	TCFL5_uc002ydo.3_Missense_Mutation_p.R117W|TCFL5_uc002ydq.3_Missense_Mutation_p.R343W	NM_006602	NP_006593	Q9UL49	TCFL5_HUMAN	Homo sapiens transcription factor-like 5 (basic helix-loop-helix) (TCFL5), mRNA.	344					cell differentiation|multicellular organismal development|regulation of cell differentiation|regulation of cell proliferation|spermatogenesis|transcription from RNA polymerase II promoter		DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(1)|urinary_tract(1)	9	Breast(26;5.68e-08)					ATTCTACTCCGATTCCTCTTC	0.443000														44			27		0	0	1	0	0
CBX4	8535	broad.mit.edu	37	17	77809109	77809109	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:77809109G>A	uc002jxe.3	-	4	495	c.332C>T	c.(331-333)gCg>gTg	p.A111V		NM_003655	NP_003646	O00257	CBX4_HUMAN	Homo sapiens chromobox homolog 4 (CBX4), mRNA.	111	Interaction with BMI1.				anti-apoptosis|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|PcG protein complex	enzyme binding|transcription corepressor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			CTTCCCCTGCGCGCCCAAATC	0.657000											OREG0024799	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		30			21		0	0	1	0	0
MVD	4597	broad.mit.edu	37	16	88721165	88721165	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:88721165G>A	uc002flg.1	-	7	955	c.948C>T	c.(946-948)gaC>gaT	p.D316D	MVD_uc002flf.1_Silent_p.D185D	NM_002461	NP_002452	P53602	MVD1_HUMAN	Homo sapiens mevalonate (diphospho) decarboxylase (MVD), mRNA.	316					cholesterol biosynthetic process|positive regulation of cell proliferation	cytosol	ATP binding|Hsp70 protein binding|diphosphomevalonate decarboxylase activity|kinase activity|protein homodimerization activity			endometrium(3)|large_intestine(1)|lung(7)|ovary(1)	12				BRCA - Breast invasive adenocarcinoma(80;0.0478)		CCACAGTGTCGTCCAGGGTGA	0.612000														34			5		0	0	1	0	0
UNC13B	10497	broad.mit.edu	37	9	35396556	35396556	+	Missense_Mutation	SNP	C	T	T	rs151027172	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:35396556C>T	uc003zwr.3	+	25	3437	c.3145C>T	c.(3145-3147)Cgg>Tgg	p.R1049W	UNC13B_uc003zwq.3_Missense_Mutation_p.R1049W	NM_006377	NP_006368	O14795	UN13B_HUMAN	Homo sapiens unc-13 homolog B (C. elegans) (UNC13B), mRNA.	1049	MHD1.				excretion|induction of apoptosis|intracellular signal transduction	Golgi apparatus|cell junction|synapse	metal ion binding|receptor activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			TGAATACGTGCGGGATCTGCC	0.552000														28			19		0	0	1	0	0
SGTA	6449	broad.mit.edu	37	19	2759266	2759266	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:2759266C>A	uc002lwi.1	-	8	873	c.726G>T	c.(724-726)caG>caT	p.Q242H		NM_003021	NP_003012	O43765	SGTA_HUMAN	Homo sapiens small glutamine-rich tetratricopeptide repeat (TPR)-containing, alpha (SGTA), mRNA.	242					interspecies interaction between organisms	cytoplasm	protein binding			endometrium(2)|large_intestine(2)|lung(2)|ovary(1)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTGCTGAATCTGGGGATTGT	0.403000														97			12		7.93312e-07	9.03407e-07	1	1	0
PRADC1	84279	broad.mit.edu	37	2	73457259	73457259	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:73457259C>A	uc002siy.3	-	1	218	c.150G>T	c.(148-150)aaG>aaT	p.K50N		NM_032319	NP_115695	Q9BSG0	PADC1_HUMAN	Homo sapiens protease-associated domain containing 1 (PRADC1), mRNA.	50						extracellular region				endometrium(1)|large_intestine(1)|lung(2)	4						CACCAAAGTCCTTGGCAGGTG	0.502000														13			8		5.50884e-06	6.15991e-06	1	1	0
PCDHGC5	56097	broad.mit.edu	37	5	140797471	140797471	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140797471G>T	uc003lkn.2	+	0	212	c.45G>T	c.(43-45)caG>caT	p.Q15H	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkm.3_Missense_Mutation_p.Q15H	NM_018927	NP_061750	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 7 (PCDHGB7), transcript variant 1, mRNA.	14					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)			gcccgcggcAGGTACTATTTC	0.642000											OREG0016863	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		6			3		0.004672	0.00486265	1	1	0
CHRNA4	1137	broad.mit.edu	37	20	61978114	61978114	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:61978114C>T	uc002yes.2	-	5	2038	c.1860G>A	c.(1858-1860)ccG>ccA	p.P620P	CHRNA4_uc002yet.1_Silent_p.P444P|CHRNA4_uc010gke.1_Silent_p.P549P|CHRNA4_uc002yev.1_Silent_p.P444P|CHRNA4_uc010gkf.1_Silent_p.P444P	NM_000744	NP_000735	P43681	ACHA4_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 4 (CHRNA4), mRNA.	620					B cell activation|DNA repair|behavioral response to nicotine|calcium ion transport|cognition|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Nicotine(DB00184)|Varenicline(DB01273)	CCAGCCAGGGCGGCAGGAAGA	0.672000														11			5		0	0	1	0	0
ITIH4	3700	broad.mit.edu	37	3	52860641	52860641	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52860641C>A	uc011bem.2	-	4	574	c.546G>T	c.(544-546)caG>caT	p.Q182H	ITIH4_uc011bel.2_5'Flank|ITIH4_uc003dfy.3_Missense_Mutation_p.Q58H|ITIH4_uc003dfz.3_Missense_Mutation_p.Q182H|ITIH4_uc011ben.2_Missense_Mutation_p.Q182H	NM_002218	NP_002209	Q14624	ITIH4_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 4 (ITIH4), transcript variant 1, mRNA.	182					acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	p.P181L(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		AGCTGATGCCCTGGGGCTCGA	0.587000														23			24		9.57634e-11	1.16131e-10	1	1	0
TRIM59	286827	broad.mit.edu	37	3	160156009	160156009	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:160156009T>G	uc003fdm.3	-	2	1158	c.963A>C	c.(961-963)gaA>gaC	p.E321D	IFT80_uc003fda.3_Intron|TRIM59_uc021xgt.1_Missense_Mutation_p.E321D	NM_173084	NP_775107	Q8IWR1	TRI59_HUMAN	Homo sapiens tripartite motif containing 59 (TRIM59), mRNA.	321						integral to membrane|intracellular	zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|urinary_tract(3)	15			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			CAACTTCCTTTTCATCCTTAC	0.318000														52			40		0	0	1	0	0
ZNF703	80139	broad.mit.edu	37	8	37556060	37556060	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:37556060C>A	uc003xjy.1	+	1	1838	c.1641C>A	c.(1639-1641)ccC>ccA	p.P547P		NM_025069	NP_079345	Q9H7S9	ZN703_HUMAN	Homo sapiens zinc finger protein 703 (ZNF703), mRNA.	547					adherens junction assembly|mammary gland epithelial cell differentiation|negative regulation of homotypic cell-cell adhesion|negative regulation of transcription, DNA-dependent|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of mammary gland epithelial cell proliferation|regulation of canonical Wnt receptor signaling pathway|regulation of cell cycle|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding	p.H546Q(1)	FGFR1/ZNF703(2)	breast(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)	7			BRCA - Breast invasive adenocarcinoma(5;7.93e-25)|LUSC - Lung squamous cell carcinoma(8;1.05e-09)			GGTACCACCCCTATGGCAAGA	0.677000														13			3		1	1	1	1	0
ZNF490	57474	broad.mit.edu	37	19	12719982	12719982	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:12719982T>C	uc002mtz.2	-	1	281	c.152A>G	c.(151-153)aAg>aGg	p.K51R	ZNF791_uc002mua.2_5'Flank|ZNF791_uc010xml.1_5'Flank|ZNF791_uc010dyu.1_5'Flank|ZNF791_uc010xmm.1_5'Flank	NM_020714	NP_065765	Q9ULM2	ZN490_HUMAN	Homo sapiens zinc finger protein 490 (ZNF490), mRNA.	51					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	18						AGTTTGAGTCTTGATGCTTTG	0.423000														32			5		0	0	1	0	0
LCT	3938	broad.mit.edu	37	2	136562398	136562398	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:136562398G>A	uc002tuu.1	-	9	4414	c.4403C>T	c.(4402-4404)gCg>gTg	p.A1468V		NM_002299	NP_002290	P09848	LPH_HUMAN	Homo sapiens lactase (LCT), mRNA.	1468	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		GTTCAGGCCCGCTTCATTGAT	0.577000														37			19		0	0	1	0	0
PLCG1	5335	broad.mit.edu	37	20	39796515	39796515	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:39796515T>C	uc002xjp.1	+	19	2446	c.2325T>C	c.(2323-2325)taT>taC	p.Y775Y	PLCG1_uc002xjo.1_Silent_p.Y775Y|PLCG1_uc010zwe.1_Silent_p.Y401Y|PLCG1_uc010ggf.3_Intron	NM_182811	NP_877963	P19174	PLCG1_HUMAN	Homo sapiens phospholipase C, gamma 1 (PLCG1), transcript variant 2, mRNA.	775					T cell receptor signaling pathway|activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				GGGCCCTGTATGAGGGACGCA	0.557000														22			15		0	0	1	0	0
FRY	10129	broad.mit.edu	37	13	32691602	32691602	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:32691602A>C	uc001utx.3	+	3	952	c.456A>C	c.(454-456)aaA>aaC	p.K152N	FRY_uc010tdw.2_Non-coding_Transcript	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	Homo sapiens furry homolog (Drosophila) (FRY), mRNA.	152					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		p.K152T(1)		NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		CAAGCAATAAATCAAAAAGGT	0.333000														66			8		0	0	1	0	0
WNT2B	7482	broad.mit.edu	37	1	113063007	113063007	+	Missense_Mutation	SNP	G	A	A	rs144189370		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:113063007G>A	uc001ecb.3	+	4	1567	c.1052G>A	c.(1051-1053)cGt>cAt	p.R351H	WNT2B_uc001eca.3_Missense_Mutation_p.R332H|WNT2B_uc009wgg.3_Missense_Mutation_p.R259H	NM_024494	NP_078613	Q93097	WNT2B_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 2B (WNT2B), transcript variant WNT-2B2, mRNA.	351					Wnt receptor signaling pathway, calcium modulating pathway|chondrocyte differentiation|cornea development in camera-type eye|dorsal/ventral axis specification|forebrain regionalization|hemopoietic stem cell proliferation|iris morphogenesis|lens development in camera-type eye|lung induction|male gonad development|neuron differentiation|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of canonical Wnt receptor signaling pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled-2 binding|signal transducer activity			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|stomach(1)	18	Lung SC(450;0.246)	all_cancers(81;7.31e-07)|all_epithelial(167;4.59e-06)|all_lung(203;2.56e-05)|Lung NSC(69;4.38e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CGAGTCACCCGTGTTACCCAG	0.527000														29			7		0	0	1	0	0
TEX10	54881	broad.mit.edu	37	9	103109222	103109222	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:103109222C>T	uc004bas.3	-	2	862	c.647G>A	c.(646-648)cGg>cAg	p.R216Q	TEX10_uc011lvf.2_Intron|TEX10_uc011lvg.2_Missense_Mutation_p.R219Q|TEX10_uc011lvh.1_Missense_Mutation_p.R151Q	NM_017746	NP_060216	Q9NXF1	TEX10_HUMAN	Homo sapiens testis expressed 10 (TEX10), transcript variant 1, mRNA.	216						MLL1 complex|integral to membrane|nuclear membrane|nucleolus	binding			NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	38		Acute lymphoblastic leukemia(62;0.0527)		OV - Ovarian serous cystadenocarcinoma(323;0.157)		AGTGAGTCTCCGATTAGGATT	0.418000														44			25		0	0	1	0	0
SPTB	6710	broad.mit.edu	37	14	65240029	65240029	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:65240029T>G	uc001xht.3	-	23	5138	c.5087A>C	c.(5086-5088)aAg>aCg	p.K1696T	SPTB_uc001xhr.3_Missense_Mutation_p.K1696T|SPTB_uc001xhs.3_Missense_Mutation_p.K1696T|SPTB_uc001xhu.3_Missense_Mutation_p.K1696T|SPTB_uc010aqi.3_Missense_Mutation_p.K357T	NM_000347	NP_000338	P11277	SPTB1_HUMAN	Homo sapiens spectrin, beta, erythrocytic (SPTB), transcript variant 2, mRNA.	1696					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		GGTCTCCCGCTTGAGCTGGAA	0.572000														58			4		0	0	1	0	0
LRRC56	115399	broad.mit.edu	37	11	554168	554168	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:554168C>T	uc010qvz.2	+	13	2026	c.1521C>T	c.(1519-1521)cgC>cgT	p.R507R		NM_198075	NP_932341	Q8IYG6	LRC56_HUMAN	Homo sapiens leucine rich repeat containing 56 (LRRC56), mRNA.	507			R -> G (in dbSNP:rs10902170).							kidney(1)|lung(4)|skin(1)	6		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGGCCTCACGCCTGAGCCCTC	0.697000														14			5		0	0	1	0	0
WISP1	8840	broad.mit.edu	37	8	134225108	134225108	+	Splice_Site	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:134225108C>T	uc003yub.3	+	2	176	c.70_splice	c.e2-1	p.A24_splice	WISP1_uc003yuc.3_Splice_Site_p.A24_splice|WISP1_uc010meb.3_Intron|WISP1_uc010mec.3_Splice_Site_p.A24_splice|WISP1_uc010med.3_Intron|WISP1_uc003yud.3_5'Flank	NM_003882	NP_003873	O95388	WISP1_HUMAN	Homo sapiens WNT1 inducible signaling pathway protein 1 (WISP1), transcript variant 1, mRNA.	24					Wnt receptor signaling pathway|cell adhesion|cell-cell signaling|regulation of cell growth	extracellular region|soluble fraction	insulin-like growth factor binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			CCCCCGCAGGCCCTCTCTCCA	0.617000														3			3		0	0	1	0	0
NTNG2	84628	broad.mit.edu	37	9	135073845	135073845	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:135073845C>T	uc004cbh.2	+	2	1482	c.706C>T	c.(706-708)Cgg>Tgg	p.R236W		NM_032536	NP_115925	Q96CW9	NTNG2_HUMAN	Homo sapiens netrin G2 (NTNG2), mRNA.	236	Laminin N-terminal.				axonogenesis	anchored to plasma membrane				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		CCTCTACACGCGGCTGGAGAG	0.672000														51			23		0	0	1	0	0
NAA25	80018	broad.mit.edu	37	12	112506731	112506731	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:112506731C>A	uc001ttm.3	-	10	1160	c.1102G>T	c.(1102-1104)Gac>Tac	p.D368Y	NAA25_uc001ttn.4_Non-coding_Transcript|NAA25_uc009zvz.2_Missense_Mutation_p.D340Y|NAA25_uc009zwa.2_Missense_Mutation_p.D368Y	NM_024953	NP_079229	Q14CX7	NAA25_HUMAN	Homo sapiens N(alpha)-acetyltransferase 25, NatB auxiliary subunit (NAA25), mRNA.	368						cytoplasm	protein binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						ACCTTAAGGTCTGTAAAACAA	0.373000														66			6		0.00198382	0.00208369	1	1	0
DIO2	1734	broad.mit.edu	37	14	80677716	80677716	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:80677716G>A	uc021rxa.1	-	0	153	c.100C>T	c.(100-102)Ctc>Ttc	p.L34F	LOC100628307_uc001xuw.1_5'Flank|DIO2_uc001xut.3_Missense_Mutation_p.L34F|DIO2_uc010asx.3_Missense_Mutation_p.L34F|DIO2_uc021rxb.1_Missense_Mutation_p.L34F|DIO2_uc010asy.3_Missense_Mutation_p.L34F	NM_001007023		Q92813	IOD2_HUMAN	Homo sapiens deiodinase, iodothyronine, type II (DIO2), transcript variant 3, mRNA.	34					hormone biosynthetic process|selenocysteine incorporation|thyroid hormone generation	integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|ubiquitin protein ligase binding	p.L34I(3)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(14)|skin(1)|stomach(1)	25				BRCA - Breast invasive adenocarcinoma(234;0.0281)		ACGTGCTTGAGCAGAATGACC	0.562000														22			3		0	0	1	0	0
GPR108	56927	broad.mit.edu	37	19	6733194	6733194	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:6733194A>G	uc002mfp.3	-	8	888	c.842T>C	c.(841-843)aTc>aCc	p.I281T	GPR108_uc010duv.3_5'Flank	NM_001080452	NP_001073921	Q9NPR9	GP108_HUMAN	Homo sapiens G protein-coupled receptor 108 (GPR108), mRNA.	281						integral to membrane				breast(2)|cervix(1)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						CCTGCAGAGGATGGACACCCA	0.622000														27			28		0	0	1	0	0
EDF1	8721	broad.mit.edu	37	9	139758285	139758285	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:139758285C>A	uc004cjt.1	-	1	145	c.117G>T	c.(115-117)gaG>gaT	p.E39D	EDF1_uc022bpv.1_Missense_Mutation_p.E39D|EDF1_uc004cju.1_Missense_Mutation_p.E39D	NM_003792	NP_003783	O60869	EDF1_HUMAN	Homo sapiens endothelial differentiation-related factor 1 (EDF1), transcript variant alpha, mRNA.	39	Interaction with NR5A2, PPARG and NR1H3.				endothelial cell differentiation|multicellular organismal development|positive regulation of DNA binding|positive regulation of transcription, DNA-dependent|regulation of lipid metabolic process|transcription, DNA-dependent	cytoplasm|nucleolus|nucleus	calmodulin binding|protein binding|sequence-specific DNA binding|transcription coactivator activity			lung(1)	1	all_cancers(76;0.0841)|all_epithelial(76;0.217)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		TCTTGGAAGTCTCCACATCTT	0.507000														62			7		5.18039e-06	5.80246e-06	1	1	0
KIAA0753	9851	broad.mit.edu	37	17	6531734	6531734	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:6531734C>T	uc002gde.4	-	2	780	c.421G>A	c.(421-423)Gac>Aac	p.D141N	KIAA0753_uc010clo.3_5'UTR|KIAA0753_uc010vte.2_5'UTR	NM_014804	NP_055619	Q2KHM9	K0753_HUMAN	Homo sapiens KIAA0753 (KIAA0753), mRNA.	141						centrosome				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24				COAD - Colon adenocarcinoma(228;0.157)		ACCCTGTGGTCGGGTATTTTA	0.423000														30			24		0	0	1	0	0
UROC1	131669	broad.mit.edu	37	3	126224682	126224682	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:126224682G>A	uc010hsi.2	-	7	729	c.675C>T	c.(673-675)acC>acT	p.T225T	UROC1_uc003eiz.2_Silent_p.T225T	NM_001165974	NP_001159446	Q96N76	HUTU_HUMAN	Homo sapiens urocanase domain containing 1 (UROC1), transcript variant 2, mRNA.	225					histidine catabolic process	cytosol	urocanate hydratase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		CATTCAACACGGTGAGCTGCA	0.662000														17			7		0	0	1	0	0
FAM35B2	439965	broad.mit.edu	37	10	47379736	47379736	+	RNA	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:47379736G>T	uc010qfz.2	+	0		c.17G>T								Homo sapiens family with sequence similarity 35, member B2 (pseudogene) (FAM35B2), non-coding RNA.																		CATGAGTGGAGGATCTCAAGT	0.343000														42			13		7.07596e-05	7.73367e-05	1	1	0
NOMO3	408050	broad.mit.edu	37	16	16359019	16359019	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:16359019T>C	uc002dep.3	+	14	1924	c.1789T>C	c.(1789-1791)Tct>Cct	p.S597P	NOMO3_uc010bvp.2_Missense_Mutation_p.S430P|NOMO3_uc002deq.3_Missense_Mutation_p.S597P	NM_001004067	NP_001004067	P69849	NOMO3_HUMAN	Homo sapiens NODAL modulator 3 (NOMO3), mRNA.	597						integral to membrane	carbohydrate binding|carboxypeptidase activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	8				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		ATGTTCCCTGTCTCACGCCAT	0.498000														45			19		0	0	1	0	0
CADPS	8618	broad.mit.edu	37	3	62631505	62631505	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:62631505T>C	uc003dll.2	-	5	1577	c.1217A>G	c.(1216-1218)gAa>gGa	p.E406G	CADPS_uc003dlm.2_Missense_Mutation_p.E406G|CADPS_uc003dln.2_Missense_Mutation_p.E406G|CADPS_uc021wzv.1_Missense_Mutation_p.E406G	NM_003716	NP_003707	Q9ULU8	CAPS1_HUMAN	Homo sapiens Ca++-dependent secretion activator (CADPS), transcript variant 1, mRNA.	406	C2.				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding	p.M405T(1)		breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		GCCTTGGACTTCCATAATTAC	0.468000														77			7		0	0	1	0	0
UNC13A	23025	broad.mit.edu	37	19	17735657	17735657	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:17735657G>A	uc021uqk.1	-	34	4217	c.4175C>T	c.(4174-4176)cCg>cTg	p.P1392L		NM_001080421	NP_001073890	Q9UPW8	UN13A_HUMAN	Homo sapiens unc-13 homolog A (C. elegans) (UNC13A), mRNA.	1393	MHD2.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						AGTGAGGGGCGGCAGGACGAT	0.577000														12			6		0	0	1	0	0
PRRG2	5639	broad.mit.edu	37	19	50086827	50086827	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:50086827G>T	uc002pon.3	+	2	279	c.114G>T	c.(112-114)caG>caT	p.Q38H	PRRG2_uc010yaz.1_Missense_Mutation_p.Q15H	NM_000951	NP_000942	O14669	TMG2_HUMAN	Homo sapiens proline rich Gla (G-carboxyglutamic acid) 2 (PRRG2), mRNA.	38						extracellular region|integral to plasma membrane	calcium ion binding			lung(1)|skin(1)|soft_tissue(1)	3		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00295)|GBM - Glioblastoma multiforme(134;0.0121)		CAGAGGCCCAGAGCTTCCTGA	0.577000														118			38		8.69298e-16	1.09754e-15	1	1	0
LRRC32	2615	broad.mit.edu	37	11	76372121	76372121	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:76372121C>T	uc001oxq.4	-	2	759	c.516G>A	c.(514-516)atG>atA	p.M172I	LRRC32_uc001oxr.4_Missense_Mutation_p.M172I|LRRC32_uc010rsf.2_Missense_Mutation_p.M172I	NM_005512	NP_005503	Q14392	LRC32_HUMAN	Homo sapiens leucine rich repeat containing 32 (LRRC32), transcript variant 1, mRNA.	172						integral to plasma membrane				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						CCAGCGCAGGCATGTCCCGGA	0.647000														33			26		0	0	1	0	0
C14orf101	54916	broad.mit.edu	37	14	57075990	57075990	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:57075990G>T	uc001xcm.3	+	5	925	c.803G>T	c.(802-804)gGa>gTa	p.G268V	C14orf101_uc001xcj.3_Non-coding_Transcript|C14orf101_uc001xck.3_Missense_Mutation_p.G268V|C14orf101_uc010aot.1_Missense_Mutation_p.G268V|C14orf101_uc001xcl.1_Non-coding_Transcript|C14orf101_uc001xcn.3_Non-coding_Transcript|C14orf101_uc010trf.2_5'UTR	NM_017799	NP_060269	Q9NX78	CN101_HUMAN	Homo sapiens chromosome 14 open reading frame 101 (C14orf101), mRNA.	268						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29				OV - Ovarian serous cystadenocarcinoma(311;0.226)		GAAGAATATGGAACCTTCAGC	0.438000														64			5		0.0215528	0.0220531	1	1	0
KBTBD12	166348	broad.mit.edu	37	3	127642974	127642974	+	Splice_Site	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:127642974G>T	uc010hsr.3	+	1	1073	c.1070_splice	c.e1+1	p.R357_splice	KBTBD12_uc003ejy.4_Intron|KBTBD12_uc010hsq.3_Intron|KBTBD12_uc003eka.4_Intron|KBTBD12_uc003ejz.2_Splice_Site_p.R357_splice	NM_207335	NP_997218	Q3ZCT8	KBTBC_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 12 (KBTBD12), mRNA.	357										endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						GAAATTTATAGGTTTGTATCT	0.318000														55			9		0.0581538	0.0591027	1	1	0
ARAF	369	broad.mit.edu	37	X	47422624	47422624	+	Splice_Site	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:47422624G>T	uc011mlp.2	+	3	291	c.97_splice	c.e3-1	p.V33_splice	ARAF_uc011mln.2_Splice_Site|ARAF_uc011mlo.2_Splice_Site|ARAF_uc004dic.1_5'Flank	NM_001654	NP_001645	P10398	ARAF_HUMAN	Homo sapiens v-raf murine sarcoma 3611 viral oncogene homolog (ARAF), transcript variant 1, mRNA.	33	RBD.				intracellular signal transduction|negative regulation of apoptosis|positive regulation of peptidyl-serine phosphorylation		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity			biliary_tract(1)|endometrium(4)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	29					Adenosine triphosphate(DB00171)	CATACACACAGGTGACTGTCC	0.547000											OREG0019758	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		10			7		5.18039e-06	5.80246e-06	1	1	0
STARD8	9754	broad.mit.edu	37	X	67939137	67939137	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:67939137C>T	uc004dxb.3	+	6	2000	c.1786C>T	c.(1786-1788)Cgg>Tgg	p.R596W	STARD8_uc004dxa.3_Missense_Mutation_p.R516W|STARD8_uc004dxc.4_Missense_Mutation_p.R516W	NM_001142503	NP_055540	Q92502	STAR8_HUMAN	Homo sapiens StAR-related lipid transfer (START) domain containing 8 (STARD8), transcript variant 1, mRNA.	516	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity			NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						GGAGATCAACCGGCAGTTTGC	0.602000														26			8		0	0	1	0	0
DNAJC13	23317	broad.mit.edu	37	3	132218639	132218639	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:132218639A>G	uc003eor.3	+	37	4468	c.4403A>G	c.(4402-4404)gAc>gGc	p.D1468G		NM_015268	NP_056083	O75165	DJC13_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 13 (DNAJC13), mRNA.	1468							heat shock protein binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						AAACCAAGTGACATGTCAGTA	0.433000														172			78		0	0	1	0	0
BTBD1	53339	broad.mit.edu	37	15	83725176	83725176	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:83725176G>T	uc002bjn.3	-	1	726	c.523C>A	c.(523-525)Ctt>Att	p.L175I	BTBD1_uc002bjo.3_Missense_Mutation_p.L175I	NM_025238	NP_079514	Q9H0C5	BTBD1_HUMAN	Homo sapiens BTB (POZ) domain containing 1 (BTBD1), transcript variant 1, mRNA.	175						cytoplasmic mRNA processing body|protein complex	protein binding	p.H174D(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	10				all cancers(203;0.000186)		TCTGCCCTAAGATGTTTGGTG	0.368000														30			12		1.61879e-10	1.95797e-10	1	1	0
MCM6	4175	broad.mit.edu	37	2	136626210	136626210	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:136626210T>C	uc002tuw.3	-	3	662	c.586A>G	c.(586-588)Aat>Gat	p.N196D		NM_005915	NP_005906	Q14566	MCM6_HUMAN	Homo sapiens minichromosome maintenance complex component 6 (MCM6), mRNA.	196					DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint	MCM complex	ATP binding|identical protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29				BRCA - Breast invasive adenocarcinoma(221;0.166)	Atorvastatin(DB01076)	CTTGATTTATTTGTATCCAGT	0.368000														77			10		0	0	1	0	0
GSTCD	79807	broad.mit.edu	37	4	106766643	106766643	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:106766643C>T	uc003hxz.4	+	11	1883	c.1811C>T	c.(1810-1812)gCa>gTa	p.A604V	GSTCD_uc003hxy.4_Missense_Mutation_p.A517V|GSTCD_uc011cfb.2_Missense_Mutation_p.A227V	NM_001031720	NP_001026890	Q8NEC7	GSTCD_HUMAN	Homo sapiens glutathione S-transferase, C-terminal domain containing (GSTCD), transcript variant 1, mRNA.	604						cytoplasm	rRNA methyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	14		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.15e-07)|READ - Rectum adenocarcinoma(30;0.139)		GCAAGAGCTGCAGAAGAATGT	0.448000														42			13		0	0	1	0	0
C10orf12	26148	broad.mit.edu	37	10	98741970	98741970	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:98741970C>T	uc001kmv.3	+	0	930	c.823C>T	c.(823-825)Cga>Tga	p.R275*	C10orf12_uc009xvg.2_Nonsense_Mutation_p.R585*	NM_015652	NP_056467	Q8N655	CJ012_HUMAN	Homo sapiens chromosome 10 open reading frame 12 (C10orf12), mRNA.	275								p.R275Q(1)		NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		CGTTTCACCTCGAAAAGAACC	0.522000														74			5		0	0	1	0	0
RDX	5962	broad.mit.edu	37	11	110102601	110102601	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:110102601G>A	uc009yxy.3	-	13	2055	c.1745C>T	c.(1744-1746)gCa>gTa	p.A582V	RDX_uc009yxx.1_Non-coding_Transcript|RDX_uc009yxz.3_Missense_Mutation_p.A235V|RDX_uc009yya.3_Missense_Mutation_p.A178V|RDX_uc001pks.3_Missense_Mutation_p.A116V|RDX_uc001pkt.3_Missense_Mutation_p.A236V|RDX_uc001pku.3_Missense_Mutation_p.A582V|RDX_uc010rwe.2_Missense_Mutation_p.A446V	NM_002906	NP_002897	P35241	RADI_HUMAN	Homo sapiens radixin (RDX), mRNA.	582					actin filament capping	Golgi apparatus|cleavage furrow|cytoskeleton|extrinsic to membrane|nucleolus|plasma membrane	actin binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	18		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)		CTCTCACATTGCTTCAAACTC	0.428000														217			19		0	0	1	0	0
SMEK1	55671	broad.mit.edu	37	14	91927861	91927861	+	Missense_Mutation	SNP	G	A	A	rs141774507		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:91927861G>A	uc001xzn.3	-	13	3077	c.2255C>T	c.(2254-2256)aCg>aTg	p.T752M	SMEK1_uc001xzm.3_Missense_Mutation_p.T739M|SMEK1_uc001xzo.3_Missense_Mutation_p.T739M|SMEK1_uc010atz.3_Missense_Mutation_p.T513M	NM_032560	NP_115949	Q6IN85	P4R3A_HUMAN	Homo sapiens SMEK homolog 1, suppressor of mek1 (Dictyostelium) (SMEK1), mRNA.	752						microtubule organizing center|nucleus	protein binding			NS(1)|endometrium(1)|kidney(1)|liver(1)|lung(1)|stomach(1)	6		all_cancers(154;0.0691)|all_epithelial(191;0.219)		COAD - Colon adenocarcinoma(157;0.221)		GTTAGTCTTCGTTCCACTGGA	0.488000														126			84		0	0	1	0	0
ZBTB38	253461	broad.mit.edu	37	3	141161791	141161791	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:141161791A>G	uc010hup.3	+	1	611	c.564A>G	c.(562-564)gcA>gcG	p.A188A	ZBTB38_uc003etw.3_Silent_p.A187A|ZBTB38_uc010hun.3_Silent_p.A184A|ZBTB38_uc010huo.3_Silent_p.A187A|ZBTB38_uc003ety.3_Silent_p.A187A|ZBTB38_uc021xes.1_Silent_p.A187A	NM_001080412	NP_001073881	Q8NAP3	ZBT38_HUMAN	Homo sapiens zinc finger and BTB domain containing 38 (ZBTB38), mRNA.	187					positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						ACTTGAGGGCAAGTTTCAAAA	0.502000														94			9		0	0	1	0	0
KIF18B	146909	broad.mit.edu	37	17	43013610	43013610	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:43013610C>T	uc010wji.2	-	1	204	c.103G>A	c.(103-105)Gag>Aag	p.E35K	KIF18B_uc002iht.3_Missense_Mutation_p.E35K|KIF18B_uc010wjh.2_Missense_Mutation_p.E35K	NM_001080443	NP_001073912			Homo sapiens kinesin family member 18B (KIF18B), mRNA.											breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	21		Prostate(33;0.155)				AGCACCCGCTCGTCCACCACC	0.647000														5			3		0	0	1	0	0
CLCN6	1185	broad.mit.edu	37	1	11888655	11888655	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:11888655C>T	uc001ate.4	+	11	1208	c.1095C>T	c.(1093-1095)aaC>aaT	p.N365N	CLCN6_uc009vnh.1_Intron|CLCN6_uc010oat.2_Silent_p.N81N|CLCN6_uc010oau.2_Silent_p.N343N	NM_001286	NP_001277	P51797	CLCN6_HUMAN	Homo sapiens chloride channel 6 (CLCN6), transcript variant ClC-6a, mRNA.	365					cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	ATP binding|antiporter activity|voltage-gated chloride channel activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		GTATGCGAAACGTGCACCCGA	0.597000														136			10		0	0	1	0	0
CCDC88C	440193	broad.mit.edu	37	14	91779811	91779811	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:91779811C>A	uc010aty.3	-	14	2503	c.2349G>T	c.(2347-2349)caG>caT	p.Q783H		NM_001080414	NP_001073883	Q9P219	DAPLE_HUMAN	Homo sapiens coiled-coil domain containing 88C (CCDC88C), mRNA.	783					Wnt receptor signaling pathway|microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation	cytoplasm|insoluble fraction	PDZ domain binding|microtubule binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				TCTCCAAGGTCTGCGTCTTGT	0.677000														13			7		0.000274275	0.000294507	1	1	0
ARL4D	379	broad.mit.edu	37	17	41477481	41477481	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:41477481C>T	uc002idt.3	+	1	562	c.381C>T	c.(379-381)ggC>ggT	p.G127G	ARL4D_uc021txy.1_Silent_p.G127G	NM_001661	NP_001652	P49703	ARL4D_HUMAN	Homo sapiens ADP-ribosylation factor-like 4D (ARL4D), mRNA.	127					protein secretion|small GTPase mediated signal transduction	cytoplasm|nucleolus|plasma membrane	GTP binding|GTPase activity|protein binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.155)		ACAACCAGGGCGTGCCAGTGC	0.657000														13			5		0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144918898	144918898	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:144918898G>A	uc021ouh.1	-	9	1590	c.1288C>T	c.(1288-1290)Cga>Tga	p.R430*	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|PDE4DIP_uc001elw.4_Nonsense_Mutation_p.R430*|PDE4DIP_uc001elx.4_Nonsense_Mutation_p.R496*|PDE4DIP_uc001emd.2_Nonsense_Mutation_p.R430*|PDE4DIP_uc001emc.2_Nonsense_Mutation_p.R430*|PDE4DIP_uc001emb.1_Nonsense_Mutation_p.R593*|PDE4DIP_uc001eme.1_5'UTR	NM_001198834	NP_001185763	Q5VU43	MYOME_HUMAN	Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA.	430					cellular protein complex assembly	Golgi apparatus|centrosome|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TCCTGGGTTCGAATCTCATTG	0.438000			T	PDGFRB	MPD									664			32		0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7569487	7569487	+	Silent	SNP	G	A	A	rs35820473	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:7569487G>A	uc003mxp.1	+	11	1767	c.1488G>A	c.(1486-1488)acG>acA	p.T496T	DSP_uc003mxq.1_Silent_p.T496T|DSP_uc021yle.1_Silent_p.T496T	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	496	Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.				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)		GGTACGTGACGGGCCCGGGAG	0.557000														43			28		0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145368545	145368545	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:145368545T>C	uc021oul.1	+	83	10558	c.10523T>C	c.(10522-10524)tTc>tCc	p.F3508S	NBPF10_uc010oye.2_Missense_Mutation_p.F867S|NBPF10_uc010oyi.2_Missense_Mutation_p.F436S|NBPF10_uc010oyj.2_Missense_Mutation_p.F224S|NBPF10_uc010oyl.2_Missense_Mutation_p.F224S	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA.	3508										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		CCTGACTCATTCCAGCACTAC	0.448000														442			23		0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144943348	144943348	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:144943348C>T	uc003zaa.1	-	0	4087	c.4074G>A	c.(4072-4074)gtG>gtA	p.V1358V		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	1358						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TGGCCAGCTGCACCTGCAGGA	0.677000														10			9		0	0	1	0	0
ZNF462	58499	broad.mit.edu	37	9	109690956	109690956	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:109690956C>T	uc004bcz.3	+	2	5052	c.4763C>T	c.(4762-4764)aCt>aTt	p.T1588I	MIR548Q_uc022bli.1_Intron|ZNF462_uc010mto.3_Missense_Mutation_p.T1436I|ZNF462_uc004bda.3_Missense_Mutation_p.T1436I	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN	Homo sapiens zinc finger protein 462 (ZNF462), mRNA.	1588					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						ACACACGGCACTTTGGAGAAA	0.527000														39			20		0	0	1	0	0
ME3	10873	broad.mit.edu	37	11	86158194	86158194	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:86158194G>T	uc001pbz.3	-	10	1547	c.1293C>A	c.(1291-1293)tcC>tcA	p.S431S	ME3_uc001pca.3_Silent_p.S431S|ME3_uc009yvk.3_Silent_p.S431S	NM_001014811	NP_001155058	Q16798	MAON_HUMAN	Homo sapiens malic enzyme 3, NADP(+)-dependent, mitochondrial (ME3), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	431					aerobic respiration|malate metabolic process|oxygen metabolic process|pyruvate metabolic process	mitochondrial matrix	NAD binding|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|metal ion binding			endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|skin(3)|stomach(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(157;4.34e-06)|all_hematologic(158;0.00252)			NADH(DB00157)	GCTCGTGGAAGGAGGCCATGT	0.602000														24			28		6.32553e-13	7.83728e-13	1	1	0
COL6A2	1292	broad.mit.edu	37	21	47532002	47532002	+	Silent	SNP	G	A	A	rs143678454		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:47532002G>A	uc002zia.1	+	2	307	c.225G>A	c.(223-225)ccG>ccA	p.P75P	COL6A2_uc002zhz.1_Silent_p.P75P|COL6A2_uc002zhy.1_Silent_p.P75P	NM_001849	NP_001840	P12110	CO6A2_HUMAN	Homo sapiens collagen, type VI, alpha 2 (COL6A2), transcript variant 2C2, mRNA.	75	Nonhelical region.|VWFA 1.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		AGTTCGTGCCGCAGTTCATCA	0.607000														35			9		0	0	1	0	0
ADAM22	53616	broad.mit.edu	37	7	87795162	87795162	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:87795162C>T	uc003ujn.3	+	23	2307	c.2092C>T	c.(2092-2094)Ctg>Ttg	p.L698L	ADAM22_uc003ujk.2_Silent_p.L698L|ADAM22_uc003ujl.2_Silent_p.L698L|ADAM22_uc003ujm.3_Silent_p.L698L|ADAM22_uc003ujo.3_Silent_p.L698L|ADAM22_uc003ujp.1_Silent_p.L750L	NM_021723	NP_068369	Q9P0K1	ADA22_HUMAN	Homo sapiens ADAM metallopeptidase domain 22 (ADAM22), transcript variant 1, mRNA.	698	EGF-like.				cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			CAGTAATGAGCTGAAGTGTGT	0.378000														66			5		0	0	1	0	0
WRB	7485	broad.mit.edu	37	21	40765207	40765207	+	Splice_Site	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:40765207G>A	uc002yxs.3	+	4	549	c.451_splice	c.e4+1	p.G151_splice	WRB_uc002yxt.4_Splice_Site_p.G117_splice|WRB_uc010goj.3_Splice_Site	NM_004627	NP_001139690	O00258	WRB_HUMAN	Homo sapiens tryptophan rich basic protein (WRB), transcript variant 1, mRNA.	151						integral to membrane|nucleolus				endometrium(3)	3		Prostate(19;1.2e-06)				AGAGTAGCAGGTAAGAATTTT	0.463000														17			12		0	0	1	0	0
MEPE	56955	broad.mit.edu	37	4	88766237	88766237	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:88766237T>C	uc021xpx.1	+	3	322	c.310T>C	c.(310-312)Tcc>Ccc	p.S104P	MEPE_uc021xpu.1_Missense_Mutation_p.S73P|MEPE_uc021xpv.1_5'UTR|MEPE_uc021xpw.1_5'UTR|MEPE_uc010ikn.3_5'UTR|MEPE_uc003hqy.3_Missense_Mutation_p.S73P|MEPE_uc021xpy.1_5'Flank	NM_001184697	NP_001171626	Q9NQ76	MEPE_HUMAN	Homo sapiens matrix extracellular phosphoglycoprotein (MEPE), transcript variant 5, mRNA.	73					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000432)		GAAAGATTTGTCCCTTTCTGA	0.308000														45			31		0	0	1	0	0
SLC12A4	6560	broad.mit.edu	37	16	67991894	67991894	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:67991894G>T	uc010vkj.1	-	2	442	c.402C>A	c.(400-402)atC>atA	p.I134I	SLC12A4_uc010ceu.2_Silent_p.I126I|SLC12A4_uc010vkh.1_Silent_p.I101I|SLC12A4_uc002euz.2_Silent_p.I132I|SLC12A4_uc010vki.1_Silent_p.I132I|SLC12A4_uc002eva.2_Silent_p.I132I|SLC12A4_uc002evb.2_Non-coding_Transcript|SLC12A4_uc010cew.1_Silent_p.I15I	NM_001145962	NP_001139434	Q9UP95	S12A4_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 4 (SLC12A4), transcript variant 3, mRNA.	132					cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	TAACCCCAAAGATATTCTGCA	0.587000														36			19		1.42536e-11	1.74426e-11	1	1	0
ANKDD1A	348094	broad.mit.edu	37	15	65218321	65218321	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:65218321G>A	uc002aoa.3	+	4	452	c.423G>A	c.(421-423)gcG>gcA	p.A141A	ANKDD1A_uc002anx.1_Silent_p.A137A|ANKDD1A_uc002any.3_Silent_p.A50A|ANKDD1A_uc002anz.3_Silent_p.A50A|ANKDD1A_uc002aob.3_Intron|ANKDD1A_uc002aoc.3_Non-coding_Transcript|ANKDD1A_uc010bha.3_Silent_p.A50A	NM_182703	NP_874362	Q495B1	AKD1A_HUMAN	Homo sapiens ankyrin repeat and death domain containing 1A (ANKDD1A), mRNA.	141					signal transduction					NS(1)|endometrium(1)|large_intestine(10)|liver(2)|lung(4)|ovary(1)|prostate(2)	21						CTGTGCTGGCGTTCATAATGG	0.592000														9			9		0	0	1	0	0
CETP	1071	broad.mit.edu	37	16	57012048	57012048	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:57012048C>T	uc002eki.2	+	10	1084	c.1027C>T	c.(1027-1029)Ctc>Ttc	p.L343F	CETP_uc002ekj.2_Missense_Mutation_p.L283F	NM_000078	NP_000069	P11597	CETP_HUMAN	Homo sapiens cholesteryl ester transfer protein, plasma (CETP), mRNA.	343					cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|lipoprotein metabolic process|low-density lipoprotein particle remodeling|phosphatidylcholine metabolic process|phospholipid homeostasis|receptor-mediated endocytosis|regulation of cholesterol efflux|triglyceride homeostasis|triglyceride metabolic process|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle|vesicle	cholesterol binding|cholesterol transporter activity|phosphatidylcholine binding|phospholipid transporter activity|triglyceride binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(4)|skin(3)	23						CGTCCACTGCCTCAAGATGCC	0.582000														65			34		0	0	1	0	0
MCF2L2	23101	broad.mit.edu	37	3	183013151	183013151	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:183013151C>T	uc003fli.1	-	12	1702	c.1612G>A	c.(1612-1614)Gcc>Acc	p.A538T	MCF2L2_uc003flj.1_Missense_Mutation_p.A538T|MCF2L2_uc011bqr.1_Non-coding_Transcript|BC013229_uc003fln.1_Intron|BC040935_uc003flo.3_5'Flank	NM_015078	NP_055893	Q86YR7	MF2L2_HUMAN	Homo sapiens MCF.2 cell line derived transforming sequence-like 2 (MCF2L2), mRNA.	538					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			GGATGTGGGGCCACAGGTTGC	0.488000														46			27		0	0	1	0	0
F8	2157	broad.mit.edu	37	X	154132706	154132706	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:154132706C>T	uc004fmt.3	-	16	5851	c.5680G>A	c.(5680-5682)Gaa>Aaa	p.E1894K	F8_uc010nvi.1_Missense_Mutation_p.E53K	NM_000132	NP_000123	P00451	FA8_HUMAN	Homo sapiens coagulation factor VIII, procoagulant component (F8), transcript variant 1, mRNA.	1894	F5/8 type A 3.|Plastocyanin-like 6.		E -> G (in HEMA; moderate).		acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	AGAGCAAATTCCTGTACTGTC	0.468000														145			77		0	0	1	0	0
SLC7A1	6541	broad.mit.edu	37	13	30110258	30110258	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:30110258C>T	uc001uso.3	-	2	455	c.68G>A	c.(67-69)cGg>cAg	p.R23Q		NM_003045	NP_003036	P30825	CTR1_HUMAN	Homo sapiens solute carrier family 7 (cationic amino acid transporter, y+ system), member 1 (SLC7A1), mRNA.	23				R -> P (in Ref. 2; CAA40560).	cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	receptor activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|stomach(1)|urinary_tract(2)	24		Lung SC(185;0.0257)|Breast(139;0.238)		all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179)	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	CGTCTCCTCCCGGCTACAGTC	0.587000														29			18		0	0	1	0	0
SLC22A1	6580	broad.mit.edu	37	6	160543249	160543249	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:160543249C>T	uc003qtc.3	+	0	387	c.282C>T	c.(280-282)gaC>gaT	p.D94D	SLC22A1_uc003qtd.3_Silent_p.D94D	NM_003057	NP_003048	O15245	S22A1_HUMAN	Homo sapiens solute carrier family 22 (organic cation transporter), member 1 (SLC22A1), transcript variant 1, mRNA.	94						basolateral plasma membrane|integral to plasma membrane|membrane fraction	organic cation transmembrane transporter activity|protein binding		SLC22A1/CUTA(2)	breast(1)|endometrium(3)|large_intestine(3)|lung(13)|upper_aerodigestive_tract(1)	21		Breast(66;0.000776)|Ovarian(120;0.00556)		OV - Ovarian serous cystadenocarcinoma(65;2.73e-17)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)		ATGAAGTGGACTGGAACCAGA	0.667000														37			28		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179476842	179476842	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179476842G>A	uc021vsy.1	-	215	42817	c.42592C>T	c.(42592-42594)Cga>Tga	p.R14198*	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Nonsense_Mutation_p.R7893*|TTN_uc021vta.1_Nonsense_Mutation_p.R7826*|TTN_uc021vtb.1_Nonsense_Mutation_p.R7701*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	15125	Fibronectin type-III 2.						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)			TCAACATGTCGTTTTGTCACA	0.403000														10			8		0	0	1	0	0
FXR2	9513	broad.mit.edu	37	17	7496092	7496092	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7496092C>T	uc002gia.2	-	13	2014	c.1649G>A	c.(1648-1650)cGc>cAc	p.R550H	MPDU1_uc010vuc.1_3'UTR|SOX15_uc002ghy.1_5'Flank|SOX15_uc002ghz.1_5'Flank	NM_004860	NP_004851	P51116	FXR2_HUMAN	Homo sapiens fragile X mental retardation, autosomal homolog 2 (FXR2), mRNA.	550	Poly-Arg.					cytosolic large ribosomal subunit	RNA binding|protein binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26				READ - Rectum adenocarcinoma(115;0.17)		AGTGCGGCGGCGGCGGGAGCG	0.632000														11			5		0	0	1	0	0
RPL15	6138	broad.mit.edu	37	3	23960723	23960723	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:23960723C>A	uc003ccr.3	+	3	739	c.346C>A	c.(346-348)Ctg>Atg	p.L116M	NKIRAS1_uc003cck.3_Intron|NKIRAS1_uc003ccj.3_5'Flank|RPL15_uc011awi.2_Intron|RPL15_uc011awj.2_Intron|RPL15_uc003ccn.3_Missense_Mutation_p.L116M|RPL15_uc003cco.3_Missense_Mutation_p.L116M|RPL15_uc003ccp.3_Missense_Mutation_p.L116M|RPL15_uc003ccq.3_Missense_Mutation_p.L116M|RPL15_uc021wub.1_Missense_Mutation_p.L116M	NM_001253379	NP_001240308	P61313	RL15_HUMAN	Homo sapiens ribosomal protein L15 (RPL15), transcript variant 2, mRNA.	116					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	RNA binding|structural constituent of ribosome			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	7						TCTGAGAGTCCTGAATTCTTA	0.448000														82			5		0.217242	0.21859	1	1	0
RNF138	51444	broad.mit.edu	37	18	29691857	29691857	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:29691857G>A	uc021uip.1	+	1	422	c.362G>A	c.(361-363)gGt>gAt	p.G121D	RNF138_uc002kxg.3_Missense_Mutation_p.G84D|RNF138_uc002kxh.3_Intron	NM_001191324	NP_001178253	Q8WVD3	RN138_HUMAN	Homo sapiens ring finger protein 138 (RNF138), transcript variant 3, mRNA.	84					Wnt receptor signaling pathway	intracellular	ligase activity|protein kinase binding|zinc ion binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	12						AAGTTTTCTGGTAGCTGCAGA	0.413000														31			20		0	0	1	0	0
RNF213	57674	broad.mit.edu	37	17	78314123	78314123	+	Missense_Mutation	SNP	G	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:78314123G>C	uc002jyh.2	+	26	6246	c.6103G>C	c.(6103-6105)Gtt>Ctt	p.V2035L	RNF213_uc021uen.1_Missense_Mutation_p.V1986L	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	SubName: Full=Uncharacterized protein;	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			CCGGCTGTGTGTTGGGATCGT	0.687000														17			8		0	0	1	0	0
SAMD9L	219285	broad.mit.edu	37	7	92762300	92762300	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:92762300G>A	uc003umh.1	-	4	4201	c.2985C>T	c.(2983-2985)taC>taT	p.Y995Y	SAMD9L_uc003umj.1_Silent_p.Y995Y|SAMD9L_uc003umi.1_Silent_p.Y995Y|SAMD9L_uc010lfb.1_Silent_p.Y995Y|SAMD9L_uc003umk.1_Silent_p.Y995Y|SAMD9L_uc010lfc.1_Silent_p.Y995Y|SAMD9L_uc010lfd.1_Silent_p.Y995Y|SAMD9L_uc022ahh.1_Silent_p.Y995Y	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA.	995										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			CTTTTAGACAGTACAGGGCAA	0.353000														97			38		0	0	1	0	0
KIAA1683	80726	broad.mit.edu	37	19	18376213	18376213	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:18376213G>T	uc010ebn.2	-	2	2353	c.2137C>A	c.(2137-2139)Ctg>Atg	p.L713M	KIAA1683_uc002nin.2_Missense_Mutation_p.L713M|KIAA1683_uc010xqe.1_Missense_Mutation_p.L667M	NM_001145304	NP_001138776	Q9H0B3	K1683_HUMAN	Homo sapiens KIAA1683 (KIAA1683), transcript variant 1, mRNA.	713						mitochondrion				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						ATCTTGCTCAGACAGGTGTCC	0.627000														31			22		1.55795e-14	1.95195e-14	1	1	0
TTN	7273	broad.mit.edu	37	2	179500846	179500846	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179500846T>C	uc021vsy.1	-	174	33973	c.33748A>G	c.(33748-33750)Att>Gtt	p.I11250V	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Missense_Mutation_p.I4945V|TTN_uc021vta.1_Missense_Mutation_p.I4878V|TTN_uc021vtb.1_Missense_Mutation_p.I4753V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	12177	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCCACCACAATCTTGCCATCC	0.512000														48			4		0	0	1	0	0
GPR158	57512	broad.mit.edu	37	10	25878043	25878043	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:25878043C>T	uc001isj.3	+	7	1921	c.1861C>T	c.(1861-1863)Ctc>Ttc	p.L621F		NM_020752	NP_065803	Q5T848	GP158_HUMAN	Homo sapiens G protein-coupled receptor 158 (GPR158), mRNA.	621				ELIISAIFHTI -> SWIVNSMNSHF (in Ref. 3).		integral to membrane|plasma membrane	G-protein coupled receptor activity	p.L621L(1)		breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						TCACAATGAGCTCATCATCTC	0.398000														42			16		0	0	1	0	0
TTLL3	26140	broad.mit.edu	37	3	9870917	9870917	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:9870917G>A	uc003btg.3	+	9	1868	c.1392G>A	c.(1390-1392)caG>caA	p.Q464Q	TTLL3_uc003btd.4_Silent_p.Q525Q|TTLL3_uc003btc.2_Silent_p.Q108Q|TTLL3_uc003btf.4_Silent_p.Q196Q|TTLL3_uc010hco.1_Silent_p.Q400Q|TTLL3_uc003bth.4_Silent_p.Q252Q|TTLL3_uc011atj.2_Silent_p.Q400Q|TTLL3_uc003btj.4_Silent_p.Q252Q|TTLL3_uc003bti.4_Silent_p.Q252Q	NM_001025930	NP_001021100	Q9Y4R7	TTLL3_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 3 (TTLL3), transcript variant 1, mRNA.	464	TTL.				axoneme assembly|cilium assembly|protein polyglycylation	cilium axoneme|cytoplasm|microtubule	protein-glycine ligase activity, initiating|tubulin-tyrosine ligase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	Medulloblastoma(99;0.227)					AGGACTTCCAGCCCTGGCTGA	0.627000														27			31		0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10404994	10404994	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:10404994A>G	uc002gmo.3	-	25	3359	c.3265T>C	c.(3265-3267)Ttt>Ctt	p.F1089L	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	1089						muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity	p.E1088*(1)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CTCATTTCAAACTCTTTCCTA	0.358000														35			16		0	0	1	0	0
MAML3	55534	broad.mit.edu	37	4	140811295	140811295	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:140811295G>T	uc021xsg.1	-	1	2047	c.1295C>A	c.(1294-1296)cCt>cAt	p.P432H	MAML3_uc011chd.1_Intron	NM_018717	NP_061187	Q96JK9	MAML3_HUMAN	Homo sapiens mastermind-like 3 (Drosophila) (MAML3), mRNA.	432					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					TCCAGGCCGAGGTGGAGCTTG	0.597000														54			5		0.184627	0.186034	1	1	0
ARHGAP5	394	broad.mit.edu	37	14	32559922	32559922	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:32559922G>A	uc001wrl.3	+	1	286	c.47G>A	c.(46-48)aGt>aAt	p.S16N	ARHGAP5_uc001wrm.3_Missense_Mutation_p.S16N|ARHGAP5_uc001wrn.3_Missense_Mutation_p.S16N|ARHGAP5_uc001wro.3_Intron|ARHGAP5_uc001wrp.3_Intron	NM_001173	NP_001025226	Q13017	RHG05_HUMAN	Homo sapiens Rho GTPase activating protein 5 (ARHGAP5), transcript variant 2, mRNA.	16					Rho protein signal transduction|cell adhesion	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		TATACCATCAGTATAGTTGGA	0.393000														67			45		0	0	1	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178559886	178559886	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:178559886C>T	uc003mjw.3	-	13	2203	c.2101G>A	c.(2101-2103)Ggt>Agt	p.G701S		NM_014244	NP_055059	O95450	ATS2_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 2 (ADAMTS2), transcript variant 1, mRNA.	701	Cys-rich.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		CCGATCACACCGTCACAGCCC	0.582000														12			6		0	0	1	0	0
PELI3	246330	broad.mit.edu	37	11	66241285	66241285	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:66241285G>A	uc001oic.4	+	6	893	c.729G>A	c.(727-729)ccG>ccA	p.P243P	PELI3_uc021qlx.1_Silent_p.P219P|PELI3_uc001oib.2_Silent_p.P243P|PELI3_uc001oid.4_Silent_p.P219P|PELI3_uc021qly.1_Silent_p.P136P	NM_145065	NP_001230065	Q8N2H9	PELI3_HUMAN	Homo sapiens pellino homolog 3 (Drosophila) (PELI3), transcript variant 1, mRNA.	243						cytosol	protein binding			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	15						TGATGCACCCGGCAGGCGGCT	0.637000														24			34		0	0	1	0	0
SGMS2	166929	broad.mit.edu	37	4	108831512	108831512	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:108831512A>C	uc003hyo.3	+	5	1540	c.901A>C	c.(901-903)Aag>Cag	p.K301Q	SGMS2_uc003hyl.4_Missense_Mutation_p.K301Q|AK123292_uc003hym.1_Intron|SGMS2_uc003hyn.3_Missense_Mutation_p.K301Q	NM_152621	NP_689834	Q8NHU3	SMS2_HUMAN	Homo sapiens sphingomyelin synthase 2 (SGMS2), transcript variant 1, mRNA.	301					sphingomyelin biosynthetic process	integral to Golgi membrane|integral to plasma membrane	ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity			central_nervous_system(1)|endometrium(2)|large_intestine(8)|liver(2)|lung(6)|prostate(1)	20				OV - Ovarian serous cystadenocarcinoma(123;2.95e-05)	Choline(DB00122)	ACAGAACTTGAAGGTCTCTTC	0.338000														38			22		0	0	1	0	0
LY6K	54742	broad.mit.edu	37	8	143784766	143784766	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:143784766G>A	uc011ljv.2	+	2	892	c.475G>A	c.(475-477)Gca>Aca	p.A159T	LOC100288181_uc022bcf.1_Non-coding_Transcript|LY6K_uc011ljw.2_3'UTR|LY6K_uc011ljx.2_3'UTR	NM_017527	NP_059997	Q17RY6	LY6K_HUMAN	Homo sapiens lymphocyte antigen 6 complex, locus K (LY6K), transcript variant 1, mRNA.	159						anchored to membrane|cytoplasm|extracellular region|nucleolus|plasma membrane		p.R159Q(1)		NS(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)	10	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					GGCCTCCATTGCAGCCGGCCT	0.577000														19			9		0	0	1	0	0
ARRB1	408	broad.mit.edu	37	11	74989755	74989755	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:74989755C>A	uc001owe.2	-	7	740	c.516G>T	c.(514-516)caG>caT	p.Q172H	ARRB1_uc001owf.2_Missense_Mutation_p.Q172H	NM_004041	NP_004032	P49407	ARRB1_HUMAN	Homo sapiens arrestin, beta 1 (ARRB1), transcript variant 1, mRNA.	172					G-protein coupled receptor internalization|histone H4 acetylation|negative regulation of NF-kappaB transcription factor activity|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|positive regulation of Rho protein signal transduction|positive regulation of histone acetylation|positive regulation of transcription from RNA polymerase II promoter|post-Golgi vesicle-mediated transport|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|signal transduction|stress fiber assembly|transcription from RNA polymerase II promoter	Golgi membrane|chromatin|coated pit|cytoplasmic vesicle membrane|cytosol|lysosomal membrane|membrane fraction|nucleus|plasma membrane|pseudopodium|soluble fraction	GTPase activator activity|angiotensin receptor binding|enzyme inhibitor activity|insulin-like growth factor receptor binding|transcription factor binding|transcription regulatory region DNA binding|ubiquitin protein ligase binding			breast(4)|large_intestine(2)|lung(4)|prostate(1)	11						CTGGGGCATACTGAACCTTCC	0.597000														158			19		2.94398e-08	3.4452e-08	1	1	0
PREX2	80243	broad.mit.edu	37	8	68939479	68939479	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:68939479G>A	uc003xxv.1	+	4	491	c.464G>A	c.(463-465)cGg>cAg	p.R155Q	PREX2_uc003xxu.1_Missense_Mutation_p.R155Q|PREX2_uc011lez.1_Missense_Mutation_p.R90Q	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	155	DH.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding	p.R155Q(3)		NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						CTTGGAGGACGGAAGAACACA	0.358000														52			29		0	0	1	0	0
SRRM2	23524	broad.mit.edu	37	16	2812116	2812116	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:2812116G>T	uc002crk.3	+	10	2136	c.1587G>T	c.(1585-1587)caG>caT	p.Q529H	SRRM2_uc002crj.1_Missense_Mutation_p.Q433H|SRRM2_uc002crl.1_Missense_Mutation_p.Q529H|SRRM2_uc010bsu.1_Missense_Mutation_p.Q433H	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	Homo sapiens serine/arginine repetitive matrix 2 (SRRM2), mRNA.	529	Arg-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|RNA binding|protein N-terminus binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						GAAGCCCCCAGCGACGTGGCC	0.607000														38			29		8.16721e-17	1.03702e-16	1	1	0
ZNF543	125919	broad.mit.edu	37	19	57835094	57835094	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:57835094G>T	uc002qoi.2	+	1	420	c.63G>T	c.(61-63)gaG>gaT	p.E21D		NM_213598	NP_998763	Q08ER8	ZN543_HUMAN	Homo sapiens zinc finger protein 543 (ZNF543), mRNA.	21	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Q20R(1)		breast(1)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TCACCCAGGAGGAGTGGGGAC	0.507000														108			8		0.000274275	0.000294507	1	1	0
MPO	4353	broad.mit.edu	37	17	56355248	56355248	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:56355248G>A	uc002ivu.1	-	6	1321	c.1144C>T	c.(1144-1146)Ctg>Ttg	p.L382L		NM_000250	NP_000241	P05164	PERM_HUMAN	Homo sapiens myeloperoxidase (MPO), nuclear gene encoding mitochondrial protein, mRNA.	382					anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Cefdinir(DB00535)	TCATCGTGCAGGTTGTCAAAG	0.642000														35			16		0	0	1	0	0
WDR36	134430	broad.mit.edu	37	5	110448783	110448783	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:110448783C>A	uc003kpd.3	+	15	2012	c.1895C>A	c.(1894-1896)cCt>cAt	p.P632H	WDR36_uc010jbu.3_Non-coding_Transcript	NM_139281	NP_644810	Q8NI36	WDR36_HUMAN	Homo sapiens WD repeat domain 36 (WDR36), mRNA.	632					rRNA processing|response to stimulus|visual perception	small-subunit processome		p.P632S(1)		cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)		GCTTTTAGTCCTGATGGTCGT	0.274000														60			9		0.00448238	0.0046769	1	1	0
ZNF12	7559	broad.mit.edu	37	7	6732277	6732277	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:6732277G>T	uc003sqt.1	-	4	850	c.296C>A	c.(295-297)cCt>cAt	p.P99H	ZNF12_uc011jxa.1_5'UTR|ZNF12_uc003sqs.1_Missense_Mutation_p.P99H	NM_016265	NP_057349	P17014	ZNF12_HUMAN	Homo sapiens zinc finger protein 12 (ZNF12), transcript variant 1, mRNA.	99					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3)	16		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		TTGCCTTGAAGGTTTATTTTC	0.363000														104			119		6.87118e-46	9.14757e-46	1	1	0
CRISPLD2	83716	broad.mit.edu	37	16	84872224	84872224	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:84872224C>T	uc010voh.1	+	1	350	c.123C>T	c.(121-123)aaC>aaT	p.N41N	CRISPLD2_uc010vog.1_Silent_p.N41N|CRISPLD2_uc002fik.4_Silent_p.N41N|CRISPLD2_uc002fil.2_Silent_p.N41N|CRISPLD2_uc002fim.2_Silent_p.N41N|CRISPLD2_uc002fin.4_Silent_p.N41N	NM_031476	NP_113664	Q9H0B8	CRLD2_HUMAN	Homo sapiens cysteine-rich secretory protein LCCL domain containing 2 (CRISPLD2), mRNA.	41						extracellular region|transport vesicle				endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)	18						ACCAGCACAACGAGTCTCACT	0.607000														59			23		0	0	1	0	0
DOCK3	1795	broad.mit.edu	37	3	51264830	51264830	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:51264830C>T	uc011bds.2	+	15	1517	c.1494C>T	c.(1492-1494)gaC>gaT	p.D498D		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	Homo sapiens dedicator of cytokinesis 3 (DOCK3), mRNA.	498	DHR-1.					cytoplasm	GTP binding|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		TCCCCATTGACCGGTTCCGGG	0.483000														49			30		0	0	1	0	0
ANKHD1-EIF4EBP3	404734	broad.mit.edu	37	5	139887505	139887505	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:139887505C>A	uc003lfs.2	+	19	3841	c.3687C>A	c.(3685-3687)acC>acA	p.T1229T	ANKHD1-EIF4EBP3_uc003lfq.2_Silent_p.T1248T|ANKHD1-EIF4EBP3_uc003lfr.3_Silent_p.T1229T|ANKHD1-EIF4EBP3_uc003lft.1_Silent_p.T440T|ANKHD1-EIF4EBP3_uc003lfu.1_Silent_p.T709T|ANKHD1-EIF4EBP3_uc003lfv.1_Silent_p.T306T|ANKHD1-EIF4EBP3_uc011czh.1_5'Flank|ANKHD1-EIF4EBP3_uc003lfw.3_5'Flank	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	Homo sapiens ANKHD1-EIF4EBP3 readthrough (ANKHD1-EIF4EBP3), mRNA.	1229						cytoplasm|nucleus	RNA binding			breast(1)|endometrium(8)|kidney(6)|large_intestine(14)|lung(17)|ovary(6)|prostate(2)|skin(1)|urinary_tract(2)	57			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGCTCTCACCCTGGCCTGTT	0.463000														61			7		0.27861	0.27975	1	1	0
ERCC2	2068	broad.mit.edu	37	19	45856054	45856054	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:45856054C>T	uc002pbj.2	-	19	1899	c.1852G>A	c.(1852-1854)Gtc>Atc	p.V618I	ERCC2_uc002pbh.2_Missense_Mutation_p.V181I|ERCC2_uc002pbi.2_Missense_Mutation_p.V311I|ERCC2_uc010ejz.2_Missense_Mutation_p.V540I|ERCC2_uc002pbk.2_Missense_Mutation_p.V594I	NM_000400	NP_000391	P18074	ERCC2_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 2 (ERCC2), transcript variant 1, mRNA.	618	Mediates interaction with MMS19.				UV protection|cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	MMXD complex|cytoplasm|holo TFIIH complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding	p.V618I(2)		large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		AACATGATGACGGCCCGCCCG	0.617000			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum					28			13		0	0	1	0	0
PRDM9	56979	broad.mit.edu	37	5	23523466	23523466	+	Splice_Site	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:23523466A>G	uc003jgo.3	+	9	1132	c.950_splice	c.e9+1	p.R317_splice		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	Homo sapiens PR domain containing 9 (PRDM9), mRNA.	317	SET.				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						CAACTGGATGAGGTAAGGCCA	0.428000										HNSCC(3;0.000094)				43			9		0	0	1	0	0
SCG3	29106	broad.mit.edu	37	15	51975415	51975415	+	Splice_Site	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:51975415G>T	uc002abh.3	+	4	585	c.182_splice	c.e4-1	p.E61_splice	SCG3_uc010ufz.2_Splice_Site	NM_013243	NP_001158729	Q8WXD2	SCG3_HUMAN	Homo sapiens secretogranin III (SCG3), transcript variant 1, mRNA.	61					platelet activation|platelet degranulation	extracellular region|stored secretory granule				breast(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				all cancers(107;0.00488)		TATTCTTCCAGAAAACAAGCC	0.343000														228			21		7.87624e-14	9.83087e-14	1	1	0
CPSF1	29894	broad.mit.edu	37	8	145626853	145626853	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:145626853C>A	uc003zcj.3	-	3	352	c.277G>T	c.(277-279)Gcc>Tcc	p.A93S	CPSF1_uc003zck.1_Missense_Mutation_p.A15S|CPSF1_uc011lle.1_Missense_Mutation_p.A93S|CPSF1_uc022bco.1_5'Flank|CPSF1_uc011llf.1_Missense_Mutation_p.A93S	NM_013291	NP_037423	Q10570	CPSF1_HUMAN	Homo sapiens cleavage and polyadenylation specific factor 1, 160kDa (CPSF1), mRNA.	93					mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			AGGAGCAGGGCATCCCGCTTG	0.637000														15			7		0.00307968	0.00322291	1	1	0
PLIN4	729359	broad.mit.edu	37	19	4512219	4512219	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:4512219T>G	uc002mar.1	-	2	1711	c.1711A>C	c.(1711-1713)Aca>Cca	p.T571P	PLIN4_uc010dub.1_5'Flank	NM_001080400	NP_001073869	Q96Q06	PLIN4_HUMAN	Homo sapiens perilipin 4 (PLIN4), mRNA.	571	27 X 33 AA approximate tandem repeat.					lipid particle|plasma membrane		p.T570N(1)		NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						TCTACACCTGTCTGGACAGCC	0.612000														166			13		0	0	1	0	0
TTBK1	84630	broad.mit.edu	37	6	43251565	43251565	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:43251565G>A	uc003ouq.1	+	13	3366	c.3087G>A	c.(3085-3087)ccG>ccA	p.P1029P	TTBK1_uc021yzs.1_Silent_p.P317P	NM_032538	NP_115927	Q5TCY1	TTBK1_HUMAN	Homo sapiens tau tubulin kinase 1 (TTBK1), mRNA.	1029						cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			CGGTGTCCCCGCTGGAGCCAA	0.677000														30			19		0	0	1	0	0
KIAA1211	57482	broad.mit.edu	37	4	57182325	57182325	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:57182325C>T	uc003hbk.2	+	7	3048	c.2657C>T	c.(2656-2658)gCg>gTg	p.A886V	KIAA1211_uc010iha.2_Missense_Mutation_p.A879V|KIAA1211_uc011bzz.1_Missense_Mutation_p.A796V|KIAA1211_uc003hbm.1_Missense_Mutation_p.A772V	NM_020722	NP_065773	Q6ZU35	K1211_HUMAN	Homo sapiens KIAA1211 (KIAA1211), mRNA.	886										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					CCGCCTGCAGCGGGGAGCGCT	0.617000														13			10		0	0	1	0	0
KCNMB3	27094	broad.mit.edu	37	3	178960736	178960736	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:178960736G>A	uc003fjm.3	-	3	1308	c.796C>T	c.(796-798)Ctg>Ttg	p.L266L	KCNMB3_uc003fjl.3_Non-coding_Transcript|KCNMB3_uc011bqc.1_Intron|KCNMB3_uc003fjn.3_Silent_p.L262L|KCNMB3_uc003fjo.3_Silent_p.L244L|KCNMB3_uc003fjp.1_Silent_p.L264L	NM_014407	NP_055222	Q9NPA1	KCMB3_HUMAN	Homo sapiens potassium large conductance calcium-activated channel, subfamily M beta member 3 (KCNMB3), transcript variant 4, mRNA.	266					detection of calcium ion|platelet activation|regulation of action potential in neuron	voltage-gated potassium channel complex	calcium-activated potassium channel activity|potassium channel regulator activity			NS(1)|large_intestine(1)|lung(2)|stomach(1)	5	all_cancers(143;5.6e-17)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;2.41e-27)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.03)			ATAATGCACAGTTTGAACTGA	0.413000														65			46		0	0	1	0	0
MME	4311	broad.mit.edu	37	3	154859820	154859820	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:154859820C>T	uc010hvr.1	+	10	1209	c.998C>T	c.(997-999)aCt>aTt	p.T333I	MME_uc003fab.1_Missense_Mutation_p.T333I|MME_uc003fac.1_Missense_Mutation_p.T333I|MME_uc003fad.1_Missense_Mutation_p.T333I|MME_uc003fae.1_Missense_Mutation_p.T333I	NM_007289	NP_009220	P08473	NEP_HUMAN	Homo sapiens membrane metallo-endopeptidase (MME), transcript variant 2b, mRNA.	333					cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	ATCATGTCAACTGTGAATATT	0.363000														69			40		0	0	1	0	0
UNK	85451	broad.mit.edu	37	17	73808617	73808617	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:73808617G>A	uc002jpm.3	+	4	801	c.801G>A	c.(799-801)gcG>gcA	p.A267A	UNK_uc021udd.1_Silent_p.A191A	NM_001080419	NP_001073888	Q9C0B0	UNK_HUMAN	Homo sapiens unkempt homolog (Drosophila) (UNK), transcript variant 1, mRNA.	191							nucleic acid binding|zinc ion binding			cervix(3)|endometrium(8)|kidney(2)|large_intestine(5)|lung(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	25			all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			CTGGGGCTGCGAGCCATGCCA	0.607000														23			4		0	0	1	0	0
LRRCC1	85444	broad.mit.edu	37	8	86044046	86044046	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:86044046C>A	uc003ycw.3	+	11	2026	c.1818C>A	c.(1816-1818)gcC>gcA	p.A606A	LRRCC1_uc010lzz.2_Non-coding_Transcript|LRRCC1_uc022awx.1_Silent_p.A513A|LRRCC1_uc010maa.2_Silent_p.A307A|LRRCC1_uc003ycy.3_Silent_p.A586A	NM_033402	NP_208325	Q9C099	LRCC1_HUMAN	Homo sapiens leucine rich repeat and coiled-coil domain containing 1 (LRRCC1), mRNA.	606					cell division|mitosis	centriole|nucleus		p.D605Y(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						TCCAGGATGCCTTAGCTAAAG	0.358000														36			15		2.35188e-11	2.87337e-11	1	1	0
KLF2	10365	broad.mit.edu	37	19	16437757	16437757	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:16437757G>A	uc002ndw.3	+	2	1067	c.983G>A	c.(982-984)gGc>gAc	p.G328D		NM_016270	NP_057354	Q9Y5W3	KLF2_HUMAN	Homo sapiens Kruppel-like factor 2 (lung) (KLF2), mRNA.	328					positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(3)|lung(1)|skin(1)	5						AAGCACACGGGCCACCGGCCA	0.652000														13			11		0	0	1	0	0
MAP7D3	79649	broad.mit.edu	37	X	135326876	135326876	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:135326876C>A	uc004ezt.3	-	3	553	c.332G>T	c.(331-333)aGa>aTa	p.R111I	MAP7D3_uc004ezs.3_Missense_Mutation_p.R111I|MAP7D3_uc011mwc.2_Missense_Mutation_p.R93I|MAP7D3_uc010nsa.2_Missense_Mutation_p.R110I	NM_024597	NP_078873	Q8IWC1	MA7D3_HUMAN	Homo sapiens MAP7 domain containing 3 (MAP7D3), transcript variant 1, mRNA.	111						cytoplasm|spindle				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					CTTCAGCTTTCTCTGTCTTTC	0.358000														71			35		2.80507e-11	3.42243e-11	1	1	0
RNPEPL1	57140	broad.mit.edu	37	2	241516172	241516172	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:241516172G>A	uc002vzi.3	+	8	1731	c.1038G>A	c.(1036-1038)ccG>ccA	p.P346P	RNPEPL1_uc002vzj.3_5'UTR	NM_018226	NP_060696	Q9HAU8	RNPL1_HUMAN	Homo sapiens arginyl aminopeptidase (aminopeptidase B)-like 1 (RNPEPL1), mRNA.	346					leukotriene biosynthetic process|proteolysis		aminopeptidase activity|metallopeptidase activity|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	13		all_epithelial(40;1.13e-11)|Breast(86;0.000169)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.204)|Melanoma(123;0.238)		Epithelial(32;3.05e-31)|all cancers(36;8.2e-29)|OV - Ovarian serous cystadenocarcinoma(60;8.55e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.12e-06)|Lung(119;0.00168)|Colorectal(34;0.005)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.0322)		ATGGGTCCCCGCTGCCGCAGG	0.692000														25			17		0	0	1	0	0
SGSM3	27352	broad.mit.edu	37	22	40802149	40802149	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:40802149C>A	uc003ayu.1	+	8	1091	c.882C>A	c.(880-882)ctC>ctA	p.L294L	SGSM3_uc010gyc.1_Silent_p.L294L|SGSM3_uc011aos.1_Silent_p.L227L|SGSM3_uc011aot.1_Silent_p.L231L	NM_015705	NP_056520	Q96HU1	SGSM3_HUMAN	Homo sapiens small G protein signaling modulator 3 (SGSM3), mRNA.	294	Rab-GAP TBC.				Rap protein signal transduction|cell cycle arrest	cytoplasm	Rab GTPase activator activity|Rab GTPase binding			cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)	19						TCAAGCTGCTCCTGCGCATCT	0.617000														61			6		0.00307968	0.00322291	1	1	0
LRP6	4040	broad.mit.edu	37	12	12312848	12312848	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:12312848G>A	uc001rah.4	-	10	2472	c.2330C>T	c.(2329-2331)gCa>gTa	p.A777V	BCL2L14_uc001raf.1_Intron|LRP6_uc010shl.1_Missense_Mutation_p.A777V	NM_002336	NP_002327	O75581	LRP6_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 6 (LRP6), mRNA.	777	Beta-propeller 3.				Wnt receptor signaling pathway involved in dorsal/ventral axis specification|cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	Wnt-protein binding|coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				TCCATCCATTGCAGCTCTGTC	0.368000														94			12		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179499996	179499996	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179499996C>T	uc021vsy.1	-	176	34441	c.34216G>A	c.(34216-34218)Gtt>Att	p.V11406I	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Missense_Mutation_p.V5101I|TTN_uc021vta.1_Missense_Mutation_p.V5034I|TTN_uc021vtb.1_Missense_Mutation_p.V4909I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	12333	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TAAATGGTAACGTCCTCTATT	0.413000														39			19		0	0	1	0	0
TRPV1	7442	broad.mit.edu	37	17	3493176	3493176	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:3493176C>T	uc010vro.2	-	4	1002	c.969G>A	c.(967-969)acG>acA	p.T323T	TRPV1_uc010vrp.2_Silent_p.T323T|TRPV1_uc010vrq.2_Silent_p.T321T|TRPV1_uc010vrr.2_Silent_p.T323T|TRPV1_uc010vrs.2_Silent_p.T323T|TRPV1_uc010vrt.2_Silent_p.T323T|TRPV1_uc010vru.2_Silent_p.T323T	NM_080706	NP_542437	Q8NER1	TRPV1_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 1 (TRPV1), transcript variant 3, mRNA.	323					cell surface receptor linked signaling pathway|chemosensory behavior|thermoception	cell junction|dendritic spine membrane|integral to plasma membrane|postsynaptic membrane	ATP binding|calcium channel activity|calmodulin binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	17				Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)	CCAGCTTCAGCGTCGGGTGCA	0.607000														8			7		0	0	1	0	0
FAM40B	57464	broad.mit.edu	37	7	129103953	129103953	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:129103953C>A	uc011koy.2	+	14	1660	c.1620C>A	c.(1618-1620)atC>atA	p.I540I	FAM40B_uc003vow.3_Silent_p.I540I|FAM40B_uc011koz.2_Silent_p.I32I	NM_020704	NP_065755	Q9ULQ0	FA40B_HUMAN	Homo sapiens family with sequence similarity 40, member B (FAM40B), transcript variant 1, mRNA.	540										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CTATCAATATCCTGGCAGATG	0.493000														57			5		0.00198382	0.00208369	1	1	0
NAV3	89795	broad.mit.edu	37	12	78513689	78513689	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:78513689C>A	uc001syp.3	+	14	3886	c.3713C>A	c.(3712-3714)tCc>tAc	p.S1238Y	NAV3_uc001syo.3_Missense_Mutation_p.S1238Y|NAV3_uc010sub.2_Missense_Mutation_p.S738Y|NAV3_uc009zsf.3_Missense_Mutation_p.S246Y	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	Homo sapiens neuron navigator 3 (NAV3), mRNA.	1238	Ser-rich.					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CAGCCAGGATCCAAGTATCCA	0.448000										HNSCC(70;0.22)				36			11		3.86212e-05	4.23294e-05	1	1	0
PIK3R1	5295	broad.mit.edu	37	5	67592152	67592152	+	Nonsense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:67592152C>A	uc003jva.3	+	14	2548	c.1968C>A	c.(1966-1968)tgC>tgA	p.C656*	PIK3R1_uc003jvc.3_Nonsense_Mutation_p.C356*|PIK3R1_uc003jvd.3_Nonsense_Mutation_p.C386*|PIK3R1_uc003jve.3_Nonsense_Mutation_p.C335*|PIK3R1_uc021xzn.1_Nonsense_Mutation_p.C293*	NM_181523	NP_852664	P27986	P85A_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	656	SH2 2.				T cell costimulation|T cell receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	AACAGGGCTGCTATGCCTGCT	0.438000			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)				105			7		8.12818e-05	8.84769e-05	1	1	0
HEATR8	374977	broad.mit.edu	37	1	55119694	55119694	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:55119694C>T	uc010ooe.1	+	2	1419	c.1095C>T	c.(1093-1095)atC>atT	p.I365I	HEATR8_uc001cxq.3_Non-coding_Transcript|HEATR8_uc001cxo.2_Silent_p.I365I|HEATR8_uc010ooc.1_Intron|HEATR8_uc010ood.1_Intron|HEATR8_uc001cxs.2_Non-coding_Transcript|HEATR8_uc010oof.1_Non-coding_Transcript|HEATR8_uc001cxr.1_Non-coding_Transcript|HEATR8_uc010oog.1_Silent_p.I365I|HEATR8_uc010ooh.1_Non-coding_Transcript|HEATR8_uc009vzq.1_Non-coding_Transcript|HEATR8_uc001cxt.1_Non-coding_Transcript	NM_001039464	NP_001034553	Q68CQ1	HEAT8_HUMAN	Homo sapiens HEAT repeat containing 8 (HEATR8), transcript variant 1, mRNA.	365						integral to membrane	binding	p.I365I(3)		breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						ACAACAGCATCCACACTGTGC	0.582000														24			18		0	0	1	0	0
CSF2RA	1438	broad.mit.edu	37	X	1413223	1413223	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:1413223C>T	uc010nct.2	+	8	971	c.649C>T	c.(649-651)Cga>Tga	p.R217*	CRLF2_uc022brt.1_Intron|CSF2RA_uc011mhb.1_Nonsense_Mutation_p.R217*|CSF2RA_uc004cpq.2_Intron|CSF2RA_uc004cpn.2_Nonsense_Mutation_p.R217*|CSF2RA_uc004cpo.2_Nonsense_Mutation_p.R217*|CSF2RA_uc010ncu.2_Non-coding_Transcript|CSF2RA_uc011mhc.1_Nonsense_Mutation_p.R84*|CSF2RA_uc004cpp.2_Nonsense_Mutation_p.R217*|CSF2RA_uc010ncv.2_Nonsense_Mutation_p.R217*|CSF2RA_uc004cpr.2_Nonsense_Mutation_p.R217*	NM_001161529	NP_001155004	P15509	CSF2R_HUMAN	Homo sapiens colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage) (CSF2RA), transcript variant 7, mRNA.	217						extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	CGTTACAGAACGATTCAACCC	0.582000														162			25		0	0	1	0	0
SORBS2	8470	broad.mit.edu	37	4	186544169	186544169	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:186544169T>C	uc003iyg.3	-	12	2776	c.2744A>G	c.(2743-2745)tAc>tGc	p.Y915C	SORBS2_uc003iyh.3_Intron|SORBS2_uc011ckw.2_Intron|SORBS2_uc003iyi.3_Intron|SORBS2_uc011ckx.2_Intron|SORBS2_uc003iyk.3_Intron|SORBS2_uc003iym.3_Missense_Mutation_p.Y901C|SORBS2_uc003iyl.3_Missense_Mutation_p.Y801C|SORBS2_uc003iyn.1_Intron|SORBS2_uc011cku.2_Intron|SORBS2_uc011ckv.2_Missense_Mutation_p.Y705C|SORBS2_uc003iyd.3_Intron|SORBS2_uc003iye.3_Intron|SORBS2_uc003iya.3_Intron|SORBS2_uc003iyb.3_Intron|SORBS2_uc003iyc.3_Intron|SORBS2_uc003iyf.3_Intron|SORBS2_uc003iyo.1_Intron	NM_021069	NP_066547	O94875	SRBS2_HUMAN	Homo sapiens sorbin and SH3 domain containing 2 (SORBS2), transcript variant 2, mRNA.	801	SH3 1.					Z disc|actin cytoskeleton|nucleus|perinuclear region of cytoplasm	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		GTCATTCTGGTAGGGTGGACA	0.612000														71			36		0	0	1	0	0
MYO5A	4644	broad.mit.edu	37	15	52605916	52605916	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:52605916G>A	uc002aby.2	-	40	5789	c.5545C>T	c.(5545-5547)Ctg>Ttg	p.L1849L	MYO5A_uc002abx.3_Silent_p.L1822L|MYO5A_uc010ugd.1_Silent_p.L571L	NM_000259	NP_000250	Q9Y4I1	MYO5A_HUMAN	Homo sapiens myosin VA (heavy chain 12, myoxin) (MYO5A), transcript variant 1, mRNA.	1849					actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		ATGAAGCCCAGGCCGAGGCTG	0.463000														47			5		0	0	1	0	0
SCCPDH	51097	broad.mit.edu	37	1	246923291	246923291	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:246923291C>T	uc001ibr.3	+	7	1193	c.846C>T	c.(844-846)ggC>ggT	p.G282G		NM_016002	NP_057086	Q8NBX0	SCPDH_HUMAN	Homo sapiens saccharopine dehydrogenase (putative) (SCCPDH), mRNA.	282						midbody	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|ovary(1)	17	all_cancers(71;6.8e-05)|all_epithelial(71;7.93e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0545)|Lung NSC(105;0.0618)	all_cancers(173;0.0343)	OV - Ovarian serous cystadenocarcinoma(106;0.00323)	GBM - Glioblastoma multiforme(49;0.0896)		CTGTGGGAGGCATCACCTCTG	0.373000														78			71		0	0	1	0	0
USP6NL	9712	broad.mit.edu	37	10	11505270	11505270	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:11505270T>C	uc001iks.1	-	13	1751	c.1708A>G	c.(1708-1710)Aac>Gac	p.N570D	USP6NL_uc001ikt.3_Missense_Mutation_p.N553D	NM_001080491	NP_001073960	Q92738	US6NL_HUMAN	Homo sapiens USP6 N-terminal like (USP6NL), transcript variant 2, mRNA.	553						intracellular	Rab GTPase activator activity	p.N570N(1)		endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1)	32						CCTGGCACGTTGTCGTACTGC	0.667000														44			33		0	0	1	0	0
PIP4K2A	5305	broad.mit.edu	37	10	22830767	22830767	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:22830767C>T	uc001irl.4	-	7	1250	c.1002G>A	c.(1000-1002)ccG>ccA	p.P334P	PIP4K2A_uc010qcu.2_Silent_p.P194P	NM_005028	NP_005019	P48426	PI42A_HUMAN	Homo sapiens phosphatidylinositol-5-phosphate 4-kinase, type II, alpha (PIP4K2A), mRNA.	334	PIPK.						1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding			endometrium(4)|kidney(13)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	29						CGTCGATGTTCGGATCGAACT	0.537000														33			23		0	0	1	0	0
PSMB11	122706	broad.mit.edu	37	14	23511750	23511750	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:23511750C>T	uc010ake.1	+	0	375	c.316C>T	c.(316-318)Cgg>Tgg	p.R106W		NM_001099780	NP_001093250	A5LHX3	PSB11_HUMAN	Homo sapiens proteasome (prosome, macropain) subunit, beta type, 11 (PSMB11), mRNA.	106					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity			endometrium(1)|kidney(2)|lung(4)	7	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00643)		TACCTGGTATCGGGTATTACA	0.597000														46			30		0	0	1	0	0
POLR3E	55718	broad.mit.edu	37	16	22337275	22337275	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:22337275G>A	uc002dkk.3	+	17	1698	c.1542G>A	c.(1540-1542)gcG>gcA	p.A514A	POLR3E_uc002dkj.1_Silent_p.A514A|POLR3E_uc002dkm.3_Silent_p.A478A|POLR3E_uc010vbr.2_Silent_p.A514A|POLR3E_uc002dkl.3_Silent_p.A514A|POLR3E_uc010vbs.2_Silent_p.A478A|POLR3E_uc010vbt.2_Silent_p.A458A	NM_018119	NP_060589	Q9NVU0	RPC5_HUMAN	Homo sapiens polymerase (RNA) III (DNA directed) polypeptide E (80kD) (POLR3E), mRNA.	514					innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA-directed RNA polymerase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.012)		agcaggaggcggaggaggagC	0.716000														2			4		0	0	1	0	0
CHST4	10164	broad.mit.edu	37	16	71570688	71570688	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:71570688G>A	uc021tkt.1	+	0	108	c.108G>A	c.(106-108)atG>atA	p.M36I	CHST4_uc002fan.3_Missense_Mutation_p.M36I|CHST4_uc002fao.3_Missense_Mutation_p.M36I	NM_005769	NP_005760	Q8NCG5	CHST4_HUMAN	Homo sapiens carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4 (CHST4), transcript variant 1, mRNA.	36					N-acetylglucosamine metabolic process|cell-cell signaling|immune response|inflammatory response|protein sulfation	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity			cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	21						CCCTGTCTATGAAGGCACAGC	0.517000														72			17		0	0	1	0	0
CEACAM8	1088	broad.mit.edu	37	19	43093759	43093759	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:43093759G>A	uc002oud.2	-	2	655	c.553C>T	c.(553-555)Ctc>Ttc	p.L185F	AK311181_uc010eif.1_Intron|AK310497_uc010eig.1_Intron|AK310497_uc010eih.1_Intron	NM_001816	NP_001807	P31997	CEAM8_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 8 (CEACAM8), mRNA.	185	Ig-like C2-type 1.				immune response	anchored to membrane|extracellular space|integral to plasma membrane		p.L185I(2)		endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	16		Prostate(69;0.00899)				CTGACCGGGAGACTCTGACCA	0.527000														98			70		0	0	1	0	0
TAF5L	27097	broad.mit.edu	37	1	229745874	229745874	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:229745874G>A	uc001htq.3	-	2	392	c.226C>T	c.(226-228)Cga>Tga	p.R76*	TAF5L_uc001htr.3_Nonsense_Mutation_p.R76*	NM_014409	NP_055224	O75529	TAF5L_HUMAN	Homo sapiens TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa (TAF5L), transcript variant 1, mRNA.	76					histone H3 acetylation|transcription from RNA polymerase II promoter	STAGA complex|transcription factor TFTC complex	sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)	11	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)				TTCCGCAGTCGTCCAAACTGT	0.443000														64			6		0	0	1	0	0
KRTAP5-5	439915	broad.mit.edu	37	11	1651250	1651250	+	Silent	SNP	C	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:1651250C>G	uc001lty.3	+	0	218	c.180C>G	c.(178-180)tcC>tcG	p.S60S	MOB2_uc001ltq.2_Intron	NM_001001480	NP_001001480	Q701N2	KRA55_HUMAN	Homo sapiens keratin associated protein 5-5 (KRTAP5-5), mRNA.	60						keratin filament				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		gatgtggctccggctgCTGTG	0.682000														42			13		0	0	1	0	0
ADHFE1	137872	broad.mit.edu	37	8	67372645	67372645	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:67372645C>A	uc003xwb.4	+	12	1299	c.1265C>A	c.(1264-1266)gCt>gAt	p.A422D	ADHFE1_uc003xwd.4_Non-coding_Transcript|ADHFE1_uc003xwc.4_Missense_Mutation_p.A374D|ADHFE1_uc003xwe.4_Non-coding_Transcript|ADHFE1_uc003xwf.4_Non-coding_Transcript|ADHFE1_uc011les.2_Missense_Mutation_p.A352D	NM_144650	NP_653251	Q8IWW8	HOT_HUMAN	Homo sapiens alcohol dehydrogenase, iron containing, 1 (ADHFE1), nuclear gene encoding mitochondrial protein, mRNA.	422					2-oxoglutarate metabolic process|molecular hydrogen transport	mitochondrial matrix	hydroxyacid-oxoacid transhydrogenase activity|metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	29		Lung NSC(129;0.197)	Epithelial(68;0.0321)|all cancers(69;0.0751)|BRCA - Breast invasive adenocarcinoma(89;0.0855)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			GGCCTAGCAGCTGTTGGTTAC	0.572000											OREG0018808	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		72			12		9.31168e-06	1.03939e-05	1	1	0
CA11	770	broad.mit.edu	37	19	49142710	49142710	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:49142710G>A	uc002pjz.1	-	6	1209	c.647C>T	c.(646-648)gCc>gTc	p.A216V	SEC1_uc010xzv.2_Intron|SEC1_uc002pka.3_Intron|SEC1_uc010xzw.2_Intron|SEC1_uc010ema.3_Intron|DBP_uc002pjx.4_5'Flank|DBP_uc002pjy.2_5'Flank|DBP_uc010elz.1_5'Flank	NM_001217	NP_001208	O75493	CAH11_HUMAN	Homo sapiens carbonic anhydrase XI (CA11), mRNA.	216						extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	14		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000103)|all cancers(93;0.000119)|GBM - Glioblastoma multiforme(486;0.00634)|Epithelial(262;0.016)		AAGAAAGTAGGCATCATCTGC	0.572000														35			13		0	0	1	0	0
MARVELD2	153562	broad.mit.edu	37	5	68716065	68716065	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:68716065G>A	uc003jwq.3	+	1	927	c.853G>A	c.(853-855)Gac>Aac	p.D285N	MARVELD2_uc010ixf.3_Missense_Mutation_p.D285N|MARVELD2_uc003jws.1_Intron	NM_001038603	NP_001033692	Q8N4S9	MALD2_HUMAN	Homo sapiens MARVEL domain containing 2 (MARVELD2), transcript variant 1, mRNA.	285	MARVEL.				sensory perception of sound	integral to membrane|tight junction				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(4)|skin(1)|urinary_tract(1)	15		Lung NSC(167;0.000937)|Prostate(74;0.0187)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;7.31e-57)|Epithelial(20;1.05e-52)|all cancers(19;2.63e-48)|Lung(70;0.0183)		CATTCTTCTGGACTCTAATTG	0.433000														52			43		0	0	1	0	0
CXorf59	286464	broad.mit.edu	37	X	36162799	36162799	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:36162799G>T	uc004ddk.1	+	10	1568	c.1382G>T	c.(1381-1383)aGa>aTa	p.R461I		NM_173695	NP_775966	Q8N9S7	CX059_HUMAN	Homo sapiens chromosome X open reading frame 59 (CXorf59), mRNA.	461						integral to membrane				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(18)|skin(1)|upper_aerodigestive_tract(2)	34						agaacaaagagacagaagaag	0.438000														22			15		6.31663e-08	7.34157e-08	1	1	0
SPTBN5	51332	broad.mit.edu	37	15	42151146	42151146	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:42151146C>T	uc001zos.3	-	47	8249	c.7916G>A	c.(7915-7917)cGc>cAc	p.R2639H		NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 5 (SPTBN5), mRNA.	2674					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		GCGATGGCGGCGGGTCCCGGC	0.706000														6			3		0	0	1	0	0
NUP214	8021	broad.mit.edu	37	9	134021675	134021675	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:134021675C>A	uc004cag.3	+	12	2040	c.1929C>A	c.(1927-1929)gtC>gtA	p.V643V	NUP214_uc004cah.3_Silent_p.V632V|NUP214_uc004cai.3_Silent_p.V72V|NUP214_uc004caf.1_Silent_p.V632V|NUP214_uc010mzf.3_5'UTR	NM_005085	NP_005076	P35658	NU214_HUMAN	Homo sapiens nucleoporin 214kDa (NUP214), mRNA.	643	11 X 5 AA approximate repeats.				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		AGTCCTCAGTCTTGCCCTCAC	0.502000			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""									247			15		1.15088e-07	1.32926e-07	1	1	0
CCDC64	92558	broad.mit.edu	37	12	120436392	120436392	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:120436392G>A	uc001txl.1	+	1	522	c.497G>A	c.(496-498)cGa>cAa	p.R166Q	CCDC64_uc001txk.2_Missense_Mutation_p.R166Q|CCDC64_uc009zwv.1_Non-coding_Transcript	NM_207311	NP_997194	Q6ZP65	BICR1_HUMAN	Homo sapiens coiled-coil domain containing 64 (CCDC64), mRNA.	166					Golgi to secretory granule transport|neuron projection development	centrosome	Rab GTPase binding|dynactin binding	p.G165G(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TGGGAAGGCCGAGTGTCAGAG	0.488000														21			11		0	0	1	0	0
FPGT-TNNI3K	100526835	broad.mit.edu	37	1	74701866	74701866	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:74701866G>A	uc001dge.2	+	3	491	c.424G>A	c.(424-426)Gaa>Aaa	p.E142K	FPGT-TNNI3K_uc001dgc.2_Missense_Mutation_p.E142K|FPGT-TNNI3K_uc001dgd.3_Missense_Mutation_p.E142K|FPGT-TNNI3K_uc001dgf.2_Missense_Mutation_p.E41K	NM_001112808	NP_001106279	Q59H18	TNI3K_HUMAN	Homo sapiens FPGT-TNNI3K readthrough (FPGT-TNNI3K), transcript variant 1, mRNA.	41						cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding										CAAGGAAAAAGAACTGACAGA	0.299000														31			13		0	0	1	0	0
RHOJ	57381	broad.mit.edu	37	14	63747715	63747715	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:63747715C>A	uc001xgb.2	+	2	750	c.264C>A	c.(262-264)ctC>ctA	p.L88L		NM_020663	NP_065714	Q9H4E5	RHOJ_HUMAN	Homo sapiens ras homolog gene family, member J (RHOJ), mRNA.	88					actin cytoskeleton organization|regulation of cell shape|regulation of small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|upper_aerodigestive_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(108;0.00326)|all cancers(60;0.031)|BRCA - Breast invasive adenocarcinoma(234;0.119)		TGAGGCCACTCTCCTACCCCA	0.517000														40			31		5.60225e-13	6.94765e-13	1	1	0
LYPLA1	10434	broad.mit.edu	37	8	54963656	54963656	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:54963656C>T	uc003xry.3	-	7	749	c.555G>A	c.(553-555)acG>acA	p.T185T	LYPLA1_uc011ldx.2_Silent_p.T146T|LYPLA1_uc003xrz.3_Silent_p.T164T	NM_006330	NP_006321	O75608	LYPA1_HUMAN	Homo sapiens lysophospholipase I (LYPLA1), mRNA.	185					fatty acid metabolic process|nitric oxide metabolic process|regulation of nitric-oxide synthase activity	cytosol	lysophospholipase activity|palmitoyl-(protein) hydrolase activity			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)	6		Lung NSC(129;0.109)|all_epithelial(80;0.11)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;8.48e-07)|Epithelial(17;9.29e-05)|all cancers(17;0.000689)			GTTTTTCCACCGTAAGAGAAC	0.443000														55			34		0	0	1	0	0
ENC1	8507	broad.mit.edu	37	5	73931761	73931761	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:73931761C>A	uc003kdc.4	-	1	1681	c.550G>T	c.(550-552)Gat>Tat	p.D184Y	ENC1_uc011css.2_Missense_Mutation_p.D111Y|ENC1_uc021yao.1_Missense_Mutation_p.D184Y	NM_003633	NP_003624	O14682	ENC1_HUMAN	Homo sapiens ectodermal-neural cortex 1 (with BTB-like domain) (ENC1), mRNA.	184					nervous system development	cytoplasm|cytoskeleton|nuclear matrix	actin binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	20		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)		TGGAGGAAATCTTCATTCTTC	0.498000														85			55		6.09941e-20	7.86077e-20	1	1	0
TRIB1	10221	broad.mit.edu	37	8	126445615	126445615	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:126445615G>A	uc003yrx.3	+	1	999	c.417G>A	c.(415-417)tcG>tcA	p.S139S	TRIB1_uc011lis.2_5'UTR|TRIB1_uc010mdn.3_5'Flank	NM_025195	NP_079471	Q96RU8	TRIB1_HUMAN	Homo sapiens tribbles homolog 1 (Drosophila) (TRIB1), mRNA.	139	Protein kinase.				JNK cascade|negative regulation of lipopolysaccharide-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity|response to lipopolysaccharide	cytoplasm|nucleus	ATP binding|mitogen-activated protein kinase kinase binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity	p.S139S(2)		NS(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	8	all_hematologic(1;4.97e-05)|Ovarian(258;0.00167)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)			AGCTGCCATCGCACAGCAACA	0.493000														234			11		0	0	1	0	0
PRDM9	56979	broad.mit.edu	37	5	23524486	23524486	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:23524486G>A	uc003jgo.3	+	9	1176	c.994G>A	c.(994-996)Gcc>Acc	p.A332T		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	Homo sapiens PR domain containing 9 (PRDM9), mRNA.	332	SET.				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						GAACCTGGTGGCCTTCCAGTA	0.527000										HNSCC(3;0.000094)				36			19		0	0	1	0	0
INO80	54617	broad.mit.edu	37	15	41372072	41372072	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:41372072G>A	uc001zni.3	-	8	1171	c.958C>T	c.(958-960)Cga>Tga	p.R320*	INO80_uc010ucu.2_Non-coding_Transcript	NM_017553	NP_060023	Q9ULG1	INO80_HUMAN	Homo sapiens INO80 homolog (S. cerevisiae) (INO80), mRNA.	320	Assembles INO80 complex module consisting of conserved components ACTR8, ACTL6A and YY1.|DBINO.				UV-damage excision repair|cell division|cellular response to UV|cellular response to ionizing radiation|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of DNA replication involved in S phase|positive regulation of cell growth|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly	Ino80 complex|microtubule	ATP binding|ATPase activity|DNA binding|DNA helicase activity|actin binding|alpha-tubulin binding			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						AAGGCAGCTCGACGCACCTCC	0.517000														74			63		0	0	1	0	0
SLC7A2	6542	broad.mit.edu	37	8	17415834	17415834	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:17415834C>T	uc011kye.2	+	7	1394	c.1346C>T	c.(1345-1347)gCg>gTg	p.A449V	SLC7A2_uc011kyc.2_Missense_Mutation_p.A409V|SLC7A2_uc011kyd.2_Missense_Mutation_p.A448V	NM_001164771	NP_001158243	P52569	CTR2_HUMAN	Homo sapiens solute carrier family 7 (cationic amino acid transporter, y+ system), member 2 (SLC7A2), transcript variant 3, mRNA.	409					cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	GACCTGAAGGCGCTTGTGGAC	0.507000														36			26		0	0	1	0	0
CST9	128822	broad.mit.edu	37	20	23586319	23586319	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:23586319C>A	uc002wtl.3	-	0	292	c.183G>T	c.(181-183)caG>caT	p.Q61H		NM_001008693	NP_001008693	Q5W186	CST9_HUMAN	Homo sapiens cystatin 9 (testatin) (CST9), mRNA.	61						extracellular region	cysteine-type endopeptidase inhibitor activity			central_nervous_system(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	12	Colorectal(13;0.0993)					CCTCCTTGCTCTGCACGTTGA	0.507000														199			14		1.52009e-12	1.87729e-12	1	1	0
E2F7	144455	broad.mit.edu	37	12	77438524	77438524	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:77438524A>G	uc001sym.4	-	5	1117	c.881T>C	c.(880-882)tTt>tCt	p.F294S		NM_203394	NP_976328	Q96AV8	E2F7_HUMAN	Homo sapiens E2F transcription factor 7 (E2F7), mRNA.	294					cell cycle	transcription factor complex	DNA binding|identical protein binding			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2)	42						CAGCATGACAAACTTCTGGCT	0.398000														59			54		0	0	1	0	0
SUCLG2	8801	broad.mit.edu	37	3	67546270	67546270	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:67546270C>A	uc021xae.1	-	8	1042	c.1014G>T	c.(1012-1014)aaG>aaT	p.K338N	SUCLG2_uc010hob.3_Intron|SUCLG2_uc003dna.4_Missense_Mutation_p.K338N	NM_001177599	NP_001171070	Q96I99	SUCB2_HUMAN	Homo sapiens succinate-CoA ligase, GDP-forming, beta subunit (SUCLG2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	338					succinyl-CoA metabolic process|tricarboxylic acid cycle	mitochondrial matrix	ATP binding|GTP binding|succinate-CoA ligase (GDP-forming) activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	10		Renal(2;0.00294)|Lung NSC(201;0.012)|Hepatocellular(537;0.121)		BRCA - Breast invasive adenocarcinoma(55;3.53e-05)|Epithelial(33;0.000153)	Succinic acid(DB00139)	CTTGAGCTTCCTTTACACCAC	0.433000														73			8		0.000157383	0.000170012	1	1	0
SOS2	6655	broad.mit.edu	37	14	50626452	50626452	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:50626452T>C	uc001wxs.4	-	9	1647	c.1549A>G	c.(1549-1551)Aaa>Gaa	p.K517E	SOS2_uc010tql.2_Missense_Mutation_p.K484E|SOS2_uc010tqm.1_Non-coding_Transcript|SOS2_uc001wxt.2_Missense_Mutation_p.K205E	NM_006939	NP_008870	Q07890	SOS2_HUMAN	Homo sapiens son of sevenless homolog 2 (Drosophila) (SOS2), mRNA.	517	PH.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|Rho guanyl-nucleotide exchange factor activity|protein binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					TTCTCATCTTTGGATACTAAT	0.343000														72			40		0	0	1	0	0
SRRM1	10250	broad.mit.edu	37	1	24978975	24978975	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:24978975C>A	uc001bjm.3	+	6	1000	c.776C>A	c.(775-777)cCt>cAt	p.P259H	SRRM1_uc010oel.2_Missense_Mutation_p.P259H|SRRM1_uc009vrh.1_Missense_Mutation_p.P220H|SRRM1_uc009vri.1_Missense_Mutation_p.P176H|SRRM1_uc010oem.1_Non-coding_Transcript	NM_005839	NP_005830	Q8IYB3	SRRM1_HUMAN	Homo sapiens serine/arginine repetitive matrix 1 (SRRM1), mRNA.	259	Arg-rich.|Pro-rich.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck	DNA binding|RNA binding|protein binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		CCTAAAGAACCTTCTCCGGAA	0.448000														23			4		2.56e-06	2.88678e-06	1	1	0
SLC22A18	5002	broad.mit.edu	37	11	2937892	2937892	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:2937892C>A	uc001lwx.3	+	5	795	c.577C>A	c.(577-579)Ctg>Atg	p.L193M	SLC22A18_uc001lwy.3_Missense_Mutation_p.L193M	NM_183233	NP_899056	Q96BI1	S22AI_HUMAN	Homo sapiens solute carrier family 22, member 18 (SLC22A18), transcript variant 2, mRNA.	193					excretion|organic cation transport	apical plasma membrane|cytoplasmic part|integral to membrane|nuclear envelope	drug:hydrogen antiporter activity|symporter activity|ubiquitin protein ligase binding			central_nervous_system(2)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	8		all_epithelial(84;0.000124)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)|all_lung(207;0.198)		BRCA - Breast invasive adenocarcinoma(625;0.00256)|LUSC - Lung squamous cell carcinoma(625;0.192)		GGCCACCCTCCTGGGAGCTGT	0.697000														31			19		0.00121646	0.00128532	1	1	0
CHRM5	1133	broad.mit.edu	37	15	34355303	34355303	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:34355303T>C	uc001zhk.1	+	2	1055	c.385T>C	c.(385-387)Tac>Cac	p.Y129H	CHRM5_uc001zhl.1_Missense_Mutation_p.Y129H|CHRM5_uc021sir.1_Missense_Mutation_p.Y129H	NM_012125	NP_036257	P08912	ACM5_HUMAN	Homo sapiens cholinergic receptor, muscarinic 5 (CHRM5), mRNA.	129					cell proliferation|inhibition of adenylate cyclase activity by muscarinic acetylcholine receptor signaling pathway	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity	p.R128R(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	20		all_lung(180;1.76e-08)		all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)	TTTTGACCGTTACTTTTCCAT	0.532000														66			4		0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92087394	92087394	+	Missense_Mutation	SNP	C	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:92087394C>G	uc001pdj.4	+	0	2133	c.2116C>G	c.(2116-2118)Ctg>Gtg	p.L706V		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	706					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)				AAATGGGAAACTGAATCTGGA	0.398000										TCGA Ovarian(4;0.039)				126			6		0	0	1	0	0
ZCCHC7	84186	broad.mit.edu	37	9	37126625	37126625	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:37126625G>T	uc003zzq.3	+	1	469	c.296G>T	c.(295-297)aGt>aTt	p.S99I	ZCCHC7_uc011lqh.2_Intron|ZCCHC7_uc022bgu.1_Missense_Mutation_p.S99I|ZCCHC7_uc010mlt.3_Missense_Mutation_p.S98I|ZCCHC7_uc003zzs.1_Missense_Mutation_p.S98I	NM_032226	NP_115602	Q8N3Z6	ZCHC7_HUMAN	Homo sapiens zinc finger, CCHC domain containing 7 (ZCCHC7), mRNA.	99							nucleic acid binding|zinc ion binding	p.S99T(2)		central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	30				GBM - Glioblastoma multiforme(29;0.0137)		GATGAAGACAGTATTTATAGA	0.383000														191			17		9.16793e-09	1.08001e-08	1	1	0
PCDHB1	29930	broad.mit.edu	37	5	140431571	140431571	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140431571G>A	uc003lik.1	+	0	593	c.516G>A	c.(514-516)ctG>ctA	p.L172L		NM_013340	NP_037472	Q9Y5F3	PCDB1_HUMAN	Homo sapiens protocadherin beta 1 (PCDHB1), mRNA.	172	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACTACACCCTGAGTGCCAATG	0.562000														37			6		0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132491285	132491285	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:132491285G>A	uc001ujn.3	+	14	3319	c.3167G>A	c.(3166-3168)aGa>aAa	p.R1056K	EP400_uc021rgq.1_Missense_Mutation_p.R1055K|EP400_uc001ujm.3_Missense_Mutation_p.R1056K	NM_015409	NP_056224	Q96L91	EP400_HUMAN	Homo sapiens E1A binding protein p400 (EP400), mRNA.	1092	Interactions with RUVBL1 and RUVBL2.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		GGGGCTCTCAGAGATTATCAG	0.428000														36			27		0	0	1	0	0
ECT2L	345930	broad.mit.edu	37	6	139222212	139222212	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:139222212G>T	uc003qif.2	+	20	2867	c.2542G>T	c.(2542-2544)Gtg>Ttg	p.V848L	ECT2L_uc021zfx.1_Missense_Mutation_p.V848L|ECT2L_uc011edq.1_Missense_Mutation_p.V702L	NM_001077706	NP_001181966	Q008S8	ECT2L_HUMAN	Homo sapiens epithelial cell transforming sequence 2 oncogene-like (ECT2L), transcript variant 1, mRNA.	848					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						CATTGCATCAGTGGCCCTTCA	0.408000			"""N, Splice, Mis"""		ETP ALL									86			7		3.09899e-07	3.55757e-07	1	1	0
ACRV1	56	broad.mit.edu	37	11	125547891	125547891	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:125547891C>T	uc001qcs.3	-	1	472	c.354G>A	c.(352-354)caG>caA	p.Q118Q	ACRV1_uc001qcl.3_Silent_p.Q48Q|ACRV1_uc001qcn.3_Silent_p.Q63Q|ACRV1_uc001qcr.3_Silent_p.Q118Q	NM_001612	NP_001603	P26436	ASPX_HUMAN	Homo sapiens acrosomal vesicle protein 1 (ACRV1), transcript variant 1, mRNA.	118	4 X 4 AA repeats of S-G-E-H.|9 X 5 AA repeats of [SV]-G-E-Q-[PSA].				multicellular organismal development	acrosomal vesicle				kidney(1)|large_intestine(3)|lung(2)	6	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0179)|Lung NSC(97;0.0185)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0713)		CACCTGAAGGCTGTTCTCCTG	0.542000														65			31		0	0	1	0	0
LRRC55	219527	broad.mit.edu	37	11	56950053	56950053	+	Missense_Mutation	SNP	C	T	T	rs34696547		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:56950053C>T	uc001njl.2	+	0	833	c.686C>T	c.(685-687)cCg>cTg	p.P229L		NM_001005210	NP_001005210	Q6ZSA7	LRC55_HUMAN	Homo sapiens leucine rich repeat containing 55 (LRRC55), mRNA.	199	LRRCT.					integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						GAGGGCCTACCGGGGCTGGTG	0.637000														59			52		0	0	1	0	0
CHMP6	79643	broad.mit.edu	37	17	78971129	78971129	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:78971129C>T	uc002jyw.4	+	5	561	c.483C>T	c.(481-483)agC>agT	p.S161S		NM_024591	NP_078867	Q96FZ7	CHMP6_HUMAN	Homo sapiens charged multivesicular body protein 6 (CHMP6), mRNA.	161					cellular membrane organization|endosome transport|protein transport	cytosol|endomembrane system|late endosome membrane	protein N-terminus binding			lung(2)|ovary(1)	3	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0175)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			AGGAGCTGAGCGCAATCACTC	0.627000														4			13		0	0	1	0	0
ZSCAN29	146050	broad.mit.edu	37	15	43658362	43658362	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:43658362C>T	uc001zrk.1	-	2	1315	c.1168G>A	c.(1168-1170)Gcg>Acg	p.A390T	ZSCAN29_uc001zrj.1_Missense_Mutation_p.A270T|ZSCAN29_uc010bdg.1_Intron|ZSCAN29_uc010bdf.1_Missense_Mutation_p.A389T|ZSCAN29_uc001zrl.1_Non-coding_Transcript|ZSCAN29_uc001zrm.3_Missense_Mutation_p.A389T	NM_152455	NP_689668	Q8IWY8	ZSC29_HUMAN	Homo sapiens zinc finger and SCAN domain containing 29 (ZSCAN29), mRNA.	390					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(7)|skin(2)	24		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.97e-07)		TGGGGGGTCGCCTCTAGATCC	0.552000														59			30		0	0	1	0	0
PEX1	5189	broad.mit.edu	37	7	92126080	92126080	+	Silent	SNP	T	C	C	rs61750423		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:92126080T>C	uc003uly.3	-	16	2826	c.2730A>G	c.(2728-2730)ttA>ttG	p.L910L	PEX1_uc011khr.2_Silent_p.L702L|PEX1_uc010ley.3_Silent_p.L853L|PEX1_uc011khs.2_Silent_p.L588L|PEX1_uc011kht.1_Non-coding_Transcript	NM_000466	NP_000457	O43933	PEX1_HUMAN	Homo sapiens peroxisomal biogenesis factor 1 (PEX1), mRNA.	910					microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			ATTTGCTGAGTAACTCTGGCC	0.303000														70			98		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82764401	82764401	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:82764401G>T	uc003uhx.2	-	2	2754	c.2465C>A	c.(2464-2466)cCt>cAt	p.P822H	PCLO_uc003uhv.2_Missense_Mutation_p.P822H	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	768	Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TGCAGGTCGAGGTATGGCTTT	0.443000														209			17		1.99824e-07	2.30332e-07	1	1	0
THRAP3	9967	broad.mit.edu	37	1	36752451	36752451	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:36752451C>A	uc001cae.4	+	3	844	c.620C>A	c.(619-621)tCt>tAt	p.S207Y	THRAP3_uc001caf.4_Missense_Mutation_p.S207Y|THRAP3_uc001cag.1_Missense_Mutation_p.S207Y	NM_005119	NP_005110	Q9Y2W1	TR150_HUMAN	Homo sapiens thyroid hormone receptor associated protein 3 (THRAP3), mRNA.	207	Ser-rich.				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CAGACATTCTCTGGAGGCACC	0.547000			T	USP6	aneurysmal bone cysts									91			11		3.07112e-06	3.45634e-06	1	1	0
TPD52L3	89882	broad.mit.edu	37	9	6328717	6328717	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:6328717C>A	uc003zjw.3	+	0	369	c.122C>A	c.(121-123)gCt>gAt	p.A41D	TPD52L3_uc003zjv.3_Missense_Mutation_p.A41D|TPD52L3_uc003zjx.2_Missense_Mutation_p.A41D	NM_033516	NP_277051	Q96J77	TPD55_HUMAN	Homo sapiens tumor protein D52-like 3 (TPD52L3), transcript variant 1, mRNA.	41							protein binding			large_intestine(1)|lung(9)|skin(1)	11		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0198)|Lung(218;0.1)		AAATTGGAGGCTGAAATTGTA	0.517000														48			5		0.000602214	0.000641151	1	1	0
FAM208B	54906	broad.mit.edu	37	10	5762885	5762885	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:5762885G>A	uc001iij.3	+	5	723	c.98G>A	c.(97-99)tGt>tAt	p.C33Y		NM_017782	NP_060252	Q5VWN6	CJ018_HUMAN	Homo sapiens family with sequence similarity 208, member B (FAM208B), mRNA.	33																	CGTATGCTATGTGATATAGCT	0.333000														68			10		0	0	1	0	0
KCNAB3	9196	broad.mit.edu	37	17	7827318	7827318	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7827318G>A	uc002gjm.1	-	10	895	c.895C>T	c.(895-897)Cga>Tga	p.R299*	KCNAB3_uc010vul.1_Non-coding_Transcript	NM_004732	NP_004723	O43448	KCAB3_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, beta member 3 (KCNAB3), mRNA.	299						cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	8		Prostate(122;0.157)				TCTGGGACTCGCCCATCATAC	0.552000														15			11		0	0	1	0	0
PBK	55872	broad.mit.edu	37	8	27680707	27680707	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:27680707C>T	uc011lap.2	-	3	534	c.168G>A	c.(166-168)ttG>ttA	p.L56L	PBK_uc003xgi.3_Silent_p.L56L	NM_018492	NP_060962	Q96KB5	TOPK_HUMAN	Homo sapiens PDZ binding kinase (PBK), mRNA.	56	Protein kinase.				mitosis		ATP binding|protein binding|protein serine/threonine kinase activity			endometrium(1)|large_intestine(2)|lung(1)	4		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|KIRC - Kidney renal clear cell carcinoma(542;0.101)|Kidney(114;0.121)|Colorectal(74;0.141)		GAGAATGAGACAAACCTCTTG	0.289000														33			6		0	0	1	0	0
STAT6	6778	broad.mit.edu	37	12	57499092	57499092	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57499092C>A	uc009zpg.3	-	8	992	c.990G>T	c.(988-990)caG>caT	p.Q330H	STAT6_uc009zpe.3_Missense_Mutation_p.Q281H|STAT6_uc001sna.3_Missense_Mutation_p.Q281H|STAT6_uc009zpf.3_Missense_Mutation_p.Q281H|STAT6_uc010srb.2_Missense_Mutation_p.Q171H|STAT6_uc010src.2_Missense_Mutation_p.Q171H|STAT6_uc010srd.2_Missense_Mutation_p.Q171H	NM_001178081	NP_001171552	P42226	STAT6_HUMAN	Homo sapiens signal transducer and activator of transcription 6, interleukin-4 induced (STAT6), transcript variant 5, mRNA.	281					regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	DNA binding|calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						TCTTCAGTACCTGGGGGGGCT	0.632000														43			5		0.014758	0.0151755	1	1	0
PCSK7	9159	broad.mit.edu	37	11	117096678	117096678	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:117096678G>A	uc001pqr.3	-	5	1030	c.829C>T	c.(829-831)Cac>Tac	p.H277Y		NM_004716	NP_004707	Q16549	PCSK7_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 7 (PCSK7), mRNA.	277	Catalytic.				peptide hormone processing	integral to Golgi membrane	serine-type endopeptidase activity			NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)		ATCTGATAGTGCTTGTTGAAC	0.542000			T	IGH@	MLCLS						OREG0021371	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		30			17		0	0	1	0	0
ACO2	50	broad.mit.edu	37	22	41903923	41903923	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:41903923C>T	uc003bac.3	+	2	324	c.302C>T	c.(301-303)gCg>gTg	p.A101V		NM_001098	NP_001089	Q99798	ACON_HUMAN	Homo sapiens aconitase 2, mitochondrial (ACO2), nuclear gene encoding mitochondrial protein, mRNA.	101					citrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron ion binding|isocitrate hydro-lyase (cis-aconitate-forming) activity			breast(3)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	23						ATGCAGGATGCGACGGCCCAG	0.602000														23			6		0	0	1	0	0
ACLY	47	broad.mit.edu	37	17	40060989	40060989	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:40060989G>A	uc002hyg.3	-	9	1221	c.1058C>T	c.(1057-1059)aCg>aTg	p.T353M	ACLY_uc002hyh.3_Missense_Mutation_p.T353M|ACLY_uc002hyi.3_Missense_Mutation_p.T407M|ACLY_uc010wfx.2_Missense_Mutation_p.T407M|ACLY_uc010wfy.2_Intron	NM_001096	NP_001087	P53396	ACLY_HUMAN	Homo sapiens ATP citrate lyase (ACLY), transcript variant 1, mRNA.	353					ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				TACCTTGAACGTGGCAGCCAC	0.493000														23			17		0	0	1	0	0
PLEKHM2	23207	broad.mit.edu	37	1	16059187	16059187	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:16059187G>A	uc010obo.2	+	18	3113	c.2886G>A	c.(2884-2886)ctG>ctA	p.L962L		NM_015164	NP_055979	Q8IWE5	PKHM2_HUMAN	Homo sapiens pleckstrin homology domain containing, family M (with RUN domain) member 2 (PLEKHM2), mRNA.	962					Golgi organization	cytoplasm	kinesin binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		ACCGATTGCTGTCTGCACTGA	0.617000														4			3		0	0	1	0	0
CYFIP2	26999	broad.mit.edu	37	5	156721855	156721855	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:156721855C>T	uc021ygm.1	+	3	409	c.271C>T	c.(271-273)Cgg>Tgg	p.R91W	CYFIP2_uc011ddn.2_Intron|CYFIP2_uc011ddo.2_Intron|CYFIP2_uc021ygn.1_Missense_Mutation_p.R91W|CYFIP2_uc021ygo.1_Missense_Mutation_p.R91W|CYFIP2_uc003lwt.3_5'Flank|CYFIP2_uc011ddp.2_5'Flank	NM_001037333	NP_001032410	Q96F07	CYFP2_HUMAN	Homo sapiens cytoplasmic FMR1 interacting protein 2 (CYFIP2), transcript variant 1, mRNA.	91					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding			breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CAGCTGTTCCCGGGCCATTCC	0.527000														25			4		0	0	1	0	0
PARD6A	50855	broad.mit.edu	37	16	67696030	67696030	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:67696030G>A	uc002ett.3	+	2	612	c.521G>A	c.(520-522)cGa>cAa	p.R174Q	ACD_uc002etp.4_5'Flank|ACD_uc002etq.4_5'Flank|ACD_uc002etr.4_5'Flank|ACD_uc010vjt.1_5'Flank|PARD6A_uc002ets.3_Missense_Mutation_p.R173Q	NM_016948	NP_058644	Q9NPB6	PAR6A_HUMAN	Homo sapiens par-6 partitioning defective 6 homolog alpha (C. elegans) (PARD6A), transcript variant 1, mRNA.	174	Interaction with PARD3 and CDC42 (By similarity).|PDZ.				cell cycle|cell division|cell-cell junction maintenance|tight junction assembly|viral reproduction	cytosol|nucleus|ruffle|tight junction	GTP-dependent protein binding|Rho GTPase binding|transcription factor binding			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	6		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		TTCTACATCCGAGATGGCATG	0.627000														52			28		0	0	1	0	0
HOXB4	3214	broad.mit.edu	37	17	46654355	46654355	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:46654355G>T	uc002inp.3	-	1	547	c.485C>A	c.(484-486)cCc>cAc	p.P162H	HOXB3_uc010wlm.2_Intron|HOXB3_uc010dbf.3_Intron|HOXB3_uc010dbg.3_Intron|HOXB3_uc002ino.3_5'Flank|HOXB3_uc010wlk.2_5'Flank|HOXB3_uc010wll.2_Intron	NM_024015	NP_076920	P17483	HXB4_HUMAN	Homo sapiens homeobox B4 (HOXB4), mRNA.	162						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(2)	9						AGAGCGCTTGGGCTCCCCGCC	0.582000														44			17		2.89027e-11	3.52362e-11	1	1	0
THRAP3	9967	broad.mit.edu	37	1	36769414	36769414	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:36769414C>T	uc001cae.4	+	11	2888	c.2664C>T	c.(2662-2664)ggC>ggT	p.G888G	THRAP3_uc001caf.4_Silent_p.G888G|SH3D21_uc010oia.1_5'Flank	NM_005119	NP_005110	Q9Y2W1	TR150_HUMAN	Homo sapiens thyroid hormone receptor associated protein 3 (THRAP3), mRNA.	888					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				ACCGTGAAGGCGAAGGCAGTG	0.587000			T	USP6	aneurysmal bone cysts									50			35		0	0	1	0	0
PLB1	151056	broad.mit.edu	37	2	28847958	28847958	+	Nonsense_Mutation	SNP	C	T	T	rs145118329		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:28847958C>T	uc002rmb.2	+	49	3606	c.3562C>T	c.(3562-3564)Cga>Tga	p.R1188*	PLB1_uc010ezj.2_Nonsense_Mutation_p.R1177*|PLB1_uc002rme.2_Nonsense_Mutation_p.R153*	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN	Homo sapiens phospholipase B1 (PLB1), transcript variant 1, mRNA.	1188	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					CCTGGTAGAGCGAATGAAAAA	0.637000														39			28		0	0	1	0	0
PLD1	5337	broad.mit.edu	37	3	171392295	171392295	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:171392295C>T	uc003fhs.3	-	18	2571	c.2224G>A	c.(2224-2226)Gta>Ata	p.V742I	PLD1_uc003fht.3_Missense_Mutation_p.V704I|PLD1_uc003fhu.4_Missense_Mutation_p.V36I|PLD1_uc003fhv.1_Missense_Mutation_p.V67I	NM_002662	NP_002653	Q13393	PLD1_HUMAN	Homo sapiens phospholipase D1, phosphatidylcholine-specific (PLD1), transcript variant 1, mRNA.	742	Catalytic.				Ras protein signal transduction|cell communication|chemotaxis	Golgi membrane|endoplasmic reticulum membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	CTTACCTGTACGTTAGCATGG	0.393000														54			10		0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195480103	195480103	+	Splice_Site	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:195480103T>C	uc021xjp.1	-	20	15485	c.15329_splice	c.e20-1	p.A5110_splice	MUC4_uc010hzq.3_5'UTR|MUC4_uc003fuz.3_Splice_Site_p.A708_splice|MUC4_uc003fva.3_Splice_Site_p.A590_splice|MUC4_uc003fvb.3_Splice_Site_p.A626_splice|MUC4_uc003fvc.3_Splice_Site|MUC4_uc003fvd.3_Splice_Site|MUC4_uc003fve.3_Splice_Site_p.A626_splice|MUC4_uc010hzr.3_Splice_Site|MUC4_uc021xjm.1_Splice_Site_p.A619_splice|MUC4_uc021xjn.1_Splice_Site_p.A799_splice|MUC4_uc021xjo.1_Splice_Site_p.A590_splice|MUC4_uc021xjg.1_Splice_Site_p.A590_splice|MUC4_uc021xjh.1_Splice_Site|MUC4_uc021xji.1_Splice_Site_p.A674_splice|MUC4_uc021xjj.1_Splice_Site_p.A674_splice|MUC4_uc021xjk.1_Splice_Site_p.A851_splice|MUC4_uc021xjl.1_Splice_Site_p.A590_splice|MUC4_uc003fvo.3_Splice_Site_p.A874_splice|MUC4_uc003fvp.3_Splice_Site_p.A823_splice	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	1867					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TCCCCAGAGCTGCAGAGTGAG	0.612000														59			25		0	0	1	0	0
TRIM3	10612	broad.mit.edu	37	11	6478090	6478090	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6478090C>T	uc001mdh.3	-	6	1262	c.866G>A	c.(865-867)cGg>cAg	p.R289Q	TRIM3_uc001mdi.3_Missense_Mutation_p.R289Q|TRIM3_uc010raj.2_Missense_Mutation_p.R170Q|TRIM3_uc009yfd.3_Missense_Mutation_p.R289Q|TRIM3_uc010rak.1_Missense_Mutation_p.R289Q|TRIM3_uc001mdj.2_Missense_Mutation_p.R170Q	NM_006458	NP_006449	O75382	TRIM3_HUMAN	Homo sapiens tripartite motif containing 3 (TRIM3), transcript variant 1, mRNA.	289					nervous system development|protein transport	early endosome	protein C-terminus binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTCATGTGGCCGCTCCGGGAA	0.667000														60			25		0	0	1	0	0
ZNF43	7594	broad.mit.edu	37	19	21991967	21991967	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:21991967C>T	uc002nqj.3	-	3	1002	c.872G>A	c.(871-873)tGt>tAt	p.C291Y	ZNF43_uc002nql.3_Missense_Mutation_p.C285Y|ZNF43_uc002nqm.3_Missense_Mutation_p.C285Y|ZNF43_uc010ecv.3_Missense_Mutation_p.C285Y|ZNF43_uc002nqk.3_Missense_Mutation_p.C221Y	NM_003423	NP_003414	P17038	ZNF43_HUMAN	Homo sapiens zinc finger protein 43 (ZNF43), mRNA.	291					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E290D(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		AGCTTTGGCACATTCTTTACA	0.358000														55			9		0	0	1	0	0
MLL5	55904	broad.mit.edu	37	7	104753353	104753353	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:104753353C>A	uc003vcm.3	+	26	5684	c.5150C>A	c.(5149-5151)cCa>cAa	p.P1717Q	MLL5_uc010ljc.3_Missense_Mutation_p.P1717Q|MLL5_uc010ljf.1_Intron|MLL5_uc010ljg.3_Missense_Mutation_p.P451Q	NM_182931	NP_891847	Q8IZD2	MLL5_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila) (MLL5), transcript variant 1, mRNA.	1717	Pro-rich.				DNA methylation|cell cycle arrest|cellular response to retinoic acid|erythrocyte differentiation|neutrophil activation|neutrophil mediated immunity|positive regulation of granulocyte differentiation|positive regulation of transcription, DNA-dependent|retinoic acid receptor signaling pathway|transcription, DNA-dependent	MLL5-L complex|nuclear speck	enzyme binding|histone methyltransferase activity (H3-K4 specific)|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(13)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	63						GCACCCCCACCACCCCCTCCG	0.557000														18			29		1.32003e-05	1.46404e-05	1	1	0
SART1	9092	broad.mit.edu	37	11	65745328	65745328	+	Silent	SNP	C	T	T	rs149311843		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:65745328C>T	uc001ogl.3	+	16	2222	c.2130C>T	c.(2128-2130)atC>atT	p.I710I		NM_005146	NP_005137	O43290	SNUT1_HUMAN	Homo sapiens squamous cell carcinoma antigen recognized by T cells (SART1), mRNA.	710					cell cycle arrest|induction of apoptosis by intracellular signals|positive regulation of cytotoxic T cell differentiation|spliceosomal snRNP assembly	Cajal body|catalytic step 2 spliceosome|cytosol				endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						ACGTTAAGATCGAATACGTGG	0.612000														17			6		0	0	1	0	0
SUPT6H	6830	broad.mit.edu	37	17	27020846	27020846	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:27020846C>T	uc010crt.3	+	28	3958	c.3766C>T	c.(3766-3768)Cga>Tga	p.R1256*	SUPT6H_uc002hby.3_Nonsense_Mutation_p.R1256*	NM_003170	NP_003161	Q7KZ85	SPT6H_HUMAN	Homo sapiens suppressor of Ty 6 homolog (S. cerevisiae) (SUPT6H), mRNA.	1256	S1 motif.				chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	RNA binding|hydrolase activity, acting on ester bonds|sequence-specific DNA binding transcription factor activity	p.R1256Q(1)		NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					GCCAGAAGAACGAGTGAAGGT	0.512000														25			16		0	0	1	0	0
COPB2	9276	broad.mit.edu	37	3	139085532	139085532	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:139085532G>T	uc003etf.4	-	14	1892	c.1762C>A	c.(1762-1764)Ctg>Atg	p.L588M	COPB2_uc011bmv.2_Missense_Mutation_p.L559M|COPB2_uc010hui.3_Missense_Mutation_p.L559M	NM_004766	NP_004757	P35606	COPB2_HUMAN	Homo sapiens coatomer protein complex, subunit beta 2 (beta prime) (COPB2), transcript variant 1, mRNA.	588					COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	24						ACTGAAACCAGCAGGGAATAG	0.443000														73			5		0.184627	0.186034	1	1	0
SLC44A4	80736	broad.mit.edu	37	6	31832637	31832637	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31832637C>T	uc010jti.3	-	18	1948	c.1882G>A	c.(1882-1884)Gac>Aac	p.D628N	NEU1_uc003nxq.4_5'Flank|SLC44A4_uc011dol.2_Missense_Mutation_p.D552N|SLC44A4_uc011dom.2_Missense_Mutation_p.D586N	NM_025257	NP_079533	Q53GD3	CTL4_HUMAN	Homo sapiens solute carrier family 44, member 4 (SLC44A4), transcript variant 1, mRNA.	628						integral to membrane|plasma membrane	choline transmembrane transporter activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2)	35					Choline(DB00122)	CTCTTAAAGTCTTTACCCAGC	0.552000														17			8		0	0	1	0	0
AQP3	360	broad.mit.edu	37	9	33442479	33442479	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:33442479G>T	uc003zsx.3	-	4	633	c.530C>A	c.(529-531)gCc>gAc	p.A177D	AQP3_uc010mju.3_Intron|AQP3_uc003zsv.2_3'UTR	NM_004925	NP_004916	Q92482	AQP3_HUMAN	Homo sapiens aquaporin 3 (Gill blood group) (AQP3), mRNA.	177					excretion|odontogenesis|positive regulation of immune system process|regulation of keratinocyte differentiation|response to calcium ion|response to retinoic acid|response to vitamin D	basolateral plasma membrane|cell-cell junction|cytoplasm	glycerol channel activity|water channel activity			endometrium(2)|large_intestine(3)|lung(2)|ovary(1)	8			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.0899)		GTCAACAATGGCCAGCACACA	0.612000														11			5		2.0095e-06	2.27092e-06	1	1	0
CCDC171	203238	broad.mit.edu	37	9	15744416	15744416	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:15744416C>T	uc011lmu.2	+	15	2330	c.2219C>T	c.(2218-2220)gCa>gTa	p.A740V	CCDC171_uc010mih.1_Missense_Mutation_p.A740V|CCDC171_uc003zmd.3_Missense_Mutation_p.A732V|CCDC171_uc003zme.3_Missense_Mutation_p.A647V|CCDC171_uc003zmf.1_Missense_Mutation_p.A40V	NM_173550	NP_775821	Q6TFL3	CI093_HUMAN	Homo sapiens chromosome 9 open reading frame 93 (C9orf93), mRNA.	732																	GCAGCCTGTGCATTAATGGCT	0.448000														56			36		0	0	1	0	0
LYST	1130	broad.mit.edu	37	1	235973133	235973133	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:235973133G>A	uc001hxj.2	-	4	1160	c.985C>T	c.(985-987)Cga>Tga	p.R329*	LYST_uc009xgb.1_Non-coding_Transcript|LYST_uc010pxs.1_Non-coding_Transcript|LYST_uc001hxl.1_Nonsense_Mutation_p.R329*	NM_000081	NP_000072	Q99698	LYST_HUMAN	Homo sapiens lysosomal trafficking regulator (LYST), mRNA.	329					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	p.R329R(2)|p.R329*(2)		NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			AACACTGTTCGAAAGAGCATC	0.438000														17			18		0	0	1	0	0
C11orf82	220042	broad.mit.edu	37	11	82644518	82644518	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:82644518C>A	uc001ozt.3	+	5	2382	c.2138C>A	c.(2137-2139)cCt>cAt	p.P713H	C11orf82_uc010rsr.2_Missense_Mutation_p.P412H|C11orf82_uc010rss.2_Missense_Mutation_p.P412H|C11orf82_uc009yvd.2_Intron	NM_145018	NP_659455	Q8IXT1	NOXIN_HUMAN	Homo sapiens chromosome 11 open reading frame 82 (C11orf82), mRNA.	713					apoptosis|cell cycle arrest	cytoplasm|nucleus				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						GAAAGTCACCCTTCAGAGTCT	0.368000														118			10		0.000673444	0.000715966	1	1	0
ABCC3	8714	broad.mit.edu	37	17	48757159	48757159	+	Splice_Site	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:48757159G>T	uc002isl.3	+	26	3786	c.3706_splice	c.e26-1	p.V1236_splice	ABCC3_uc002isn.3_5'UTR	NM_003786	NP_003777	O15438	MRP3_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 3 (ABCC3), transcript variant 1, mRNA.	1236	ABC transmembrane type-1 2.				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	CTTTGGCCAGGTGACATTTGC	0.512000														39			9		3.09899e-07	3.55757e-07	1	1	0
SALL3	27164	broad.mit.edu	37	18	76754804	76754804	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:76754804C>T	uc002lmt.3	+	1	2813	c.2813C>T	c.(2812-2814)cCg>cTg	p.P938L	SALL3_uc010dra.3_Missense_Mutation_p.P545L	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN	Homo sapiens sal-like 3 (Drosophila) (SALL3), mRNA.	938					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		ACCGAGAGGCCGGACAGCCCA	0.741000														4			3		0	0	1	0	0
FBL	2091	broad.mit.edu	37	19	40329705	40329705	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:40329705C>T	uc002omn.3	-	4	633	c.519G>A	c.(517-519)acG>acA	p.T173T	FBL_uc002omm.1_Silent_p.T87T|FBL_uc002omo.2_Silent_p.T172T|FBL_uc010egr.3_Silent_p.T173T	NM_001436	NP_001427	P22087	FBRL_HUMAN	Homo sapiens fibrillarin (FBL), mRNA.	173	S-adenosyl-L-methionine binding (By similarity).				rRNA processing|tRNA processing	Cajal body|box C/D snoRNP complex	RNA binding|methyltransferase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)	9	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)	Renal(1328;0.000518)|Hepatocellular(1079;0.0893)	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)	GBM - Glioblastoma multiforme(1328;0.000826)|STAD - Stomach adenocarcinoma(1328;0.138)		CATGGGAGACCGTGGTGCCCG	0.587000														48			27		0	0	1	0	0
POM121	9883	broad.mit.edu	37	7	72416129	72416129	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:72416129C>T	uc010lam.1	+	14	3780	c.2739C>T	c.(2737-2739)acC>acT	p.T913T	POM121_uc003twj.3_Silent_p.T913T	NM_172020	NP_742017	Q96HA1	P121A_HUMAN	Homo sapiens POM121 membrane glycoprotein (POM121), mRNA.	1178	Pore side (Potential).|Thr-rich.				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				TTCCAGGCACCGCCACCCCCA	0.652000														19			18		0	0	1	0	0
LGSN	51557	broad.mit.edu	37	6	63990679	63990679	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:63990679G>T	uc003peh.3	-	3	811	c.777C>A	c.(775-777)tcC>tcA	p.S259S	LGSN_uc003pei.3_Intron	NM_016571	NP_057655	Q5TDP6	LGSN_HUMAN	Homo sapiens lengsin, lens protein with glutamine synthetase domain (LGSN), transcript variant 1, mRNA.	259					glutamine biosynthetic process		glutamate-ammonia ligase activity			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34					L-Glutamic Acid(DB00142)	GCCTGGTAGAGGAGGAAAAAC	0.438000														31			5		0.000602214	0.000641151	1	1	0
CORIN	10699	broad.mit.edu	37	4	47645223	47645223	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:47645223G>A	uc003gxm.3	-	14	2101	c.2008C>T	c.(2008-2010)Cgt>Tgt	p.R670C	CORIN_uc011bzf.2_Missense_Mutation_p.R531C|CORIN_uc011bzg.2_Missense_Mutation_p.R603C|CORIN_uc011bzh.1_Missense_Mutation_p.R633C	NM_006587	NP_006578	Q9Y5Q5	CORIN_HUMAN	Homo sapiens corin, serine peptidase (CORIN), mRNA.	670	LDL-receptor class A 7.				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						CACAGGTCACGTGACACACAC	0.453000														64			6		0	0	1	0	0
ZNF408	79797	broad.mit.edu	37	11	46726700	46726700	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:46726700C>T	uc001nde.2	+	4	1731	c.1450C>T	c.(1450-1452)Cgg>Tgg	p.R484W	ZNF408_uc010rgw.2_Missense_Mutation_p.R476W	NM_024741	NP_079017	Q9H9D4	ZN408_HUMAN	Homo sapiens zinc finger protein 408 (ZNF408), transcript variant 1, mRNA.	484					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GGGCTCCCTGCGGAACCATAT	0.667000														45			33		0	0	1	0	0
SUPT6H	6830	broad.mit.edu	37	17	27010091	27010091	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:27010091C>T	uc010crt.3	+	15	2051	c.1859C>T	c.(1858-1860)cCc>cTc	p.P620L	SUPT6H_uc002hby.3_Missense_Mutation_p.P620L	NM_003170	NP_003161	Q7KZ85	SPT6H_HUMAN	Homo sapiens suppressor of Ty 6 homolog (S. cerevisiae) (SUPT6H), mRNA.	620					chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	RNA binding|hydrolase activity, acting on ester bonds|sequence-specific DNA binding transcription factor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					AATATAACCCCCACCAAGAAA	0.532000														9			5		0	0	1	0	0
RBM28	55131	broad.mit.edu	37	7	127965879	127965879	+	Nonsense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:127965879C>A	uc003vmp.2	-	10	1310	c.1195G>T	c.(1195-1197)Gag>Tag	p.E399*	RBM28_uc011koj.1_Nonsense_Mutation_p.E258*|RBM28_uc011kok.1_Nonsense_Mutation_p.E346*	NM_018077	NP_060547	Q9NW13	RBM28_HUMAN	Homo sapiens RNA binding motif protein 28 (RBM28), transcript variant 1, mRNA.	399	RRM 3.				RNA splicing|mRNA processing	Golgi apparatus|nucleolus|spliceosomal complex	RNA binding|nucleotide binding			breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						ACCTCATTCTCTGGAGAAGCA	0.413000														38			9		0.00621372	0.00645399	1	1	0
ACE2	59272	broad.mit.edu	37	X	15584454	15584454	+	Missense_Mutation	SNP	A	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:15584454A>T	uc004cxa.1	-	15	2204	c.2036T>A	c.(2035-2037)aTc>aAc	p.I679N	ACE2_uc004cxb.2_Missense_Mutation_p.I679N	NM_021804	NP_068576	Q9BYF1	ACE2_HUMAN	Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 2 (ACE2), mRNA.	679					angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor	cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane	carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32	Hepatocellular(33;0.183)				Moexipril(DB00691)	ATTAAAGGAGATTCTTGGTTT	0.383000														126			80		0	0	1	0	0
WDR35	57539	broad.mit.edu	37	2	20130200	20130200	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:20130200C>T	uc002rdi.3	-	25	3219	c.3111G>A	c.(3109-3111)caG>caA	p.Q1037Q	WDR35_uc002rdj.3_Silent_p.Q1026Q|WDR35_uc010ext.3_Non-coding_Transcript|WDR35_uc002rdh.3_Silent_p.Q510Q	NM_001006657	NP_001006658	Q9P2L0	WDR35_HUMAN	Homo sapiens WD repeat domain 35 (WDR35), transcript variant 1, mRNA.	1037										breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGAGCTGCCTCTGTGCAAGTA	0.438000														103			71		0	0	1	0	0
IL1RAPL2	26280	broad.mit.edu	37	X	104728341	104728341	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:104728341C>T	uc004elz.1	+	5	1490	c.734C>T	c.(733-735)cCc>cTc	p.P245L		NM_017416	NP_059112	Q9NP60	IRPL2_HUMAN	Homo sapiens interleukin 1 receptor accessory protein-like 2 (IL1RAPL2), mRNA.	245	Ig-like C2-type 3.				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CCATTGTTCCCCATGGAGAAT	0.408000														54			32		0	0	1	0	0
NAA25	80018	broad.mit.edu	37	12	112528603	112528603	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:112528603C>A	uc001ttm.3	-	2	268	c.210G>T	c.(208-210)gaG>gaT	p.E70D	NAA25_uc001ttn.4_Non-coding_Transcript|NAA25_uc009zvz.2_Missense_Mutation_p.E42D|NAA25_uc009zwa.2_Missense_Mutation_p.E70D	NM_024953	NP_079229	Q14CX7	NAA25_HUMAN	Homo sapiens N(alpha)-acetyltransferase 25, NatB auxiliary subunit (NAA25), mRNA.	70						cytoplasm	protein binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						GGGCTGCCACCTCCTGTGCAA	0.413000														98			49		9.22156e-22	1.19517e-21	1	1	0
SMC1B	27127	broad.mit.edu	37	22	45802461	45802461	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:45802461T>C	uc003bgc.3	-	3	547	c.495A>G	c.(493-495)atA>atG	p.I165M	SMC1B_uc003bgd.3_Missense_Mutation_p.I165M|SMC1B_uc003bge.1_5'UTR	NM_148674	NP_683515	Q8NDV3	SMC1B_HUMAN	Homo sapiens structural maintenance of chromosomes 1B (SMC1B), mRNA.	165					chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		CATATTCTCCTATAAGCTCTC	0.358000														45			24		0	0	1	0	0
SLIT1	6585	broad.mit.edu	37	10	98824578	98824578	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:98824578G>A	uc001kmw.2	-	5	793	c.541C>T	c.(541-543)Cgg>Tgg	p.R181W	SLIT1_uc009xvh.1_Missense_Mutation_p.R181W	NM_003061	NP_003052	O75093	SLIT1_HUMAN	Homo sapiens slit homolog 1 (Drosophila) (SLIT1), mRNA.	181					axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	Roundabout binding|calcium ion binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		TCCAGCCCCCGCAGAGCACGG	0.582000														84			39		0	0	1	0	0
UTRN	7402	broad.mit.edu	37	6	144769783	144769783	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:144769783G>T	uc003qkt.3	+	15	2042	c.1950G>T	c.(1948-1950)aaG>aaT	p.K650N	UTRN_uc010khq.1_Missense_Mutation_p.K650N	NM_007124	NP_009055	P46939	UTRO_HUMAN	Homo sapiens utrophin (UTRN), mRNA.	650	Interaction with SYNM.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		TTCCTCAGAAGGACCTTTTGG	0.428000														102			11		1.61879e-10	1.95797e-10	1	1	0
ZNF695	57116	broad.mit.edu	37	1	247163244	247163244	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:247163244C>T	uc009xgu.3	-	1	321	c.136G>A	c.(136-138)Gat>Aat	p.D46N	ZNF695_uc001ica.3_Intron|ZNF695_uc001icb.2_Intron|ZNF695_uc009xgt.2_Non-coding_Transcript|ZNF695_uc001ibx.3_Missense_Mutation_p.D46N|ZNF695_uc001iby.3_Non-coding_Transcript|ZNF695_uc001icc.3_Intron	NM_020394	NP_065127	Q8IW36	ZN695_HUMAN	Homo sapiens zinc finger protein 695 (ZNF695), transcript variant 1, mRNA.	46	KRAB.				regulation of transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(1)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	13	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			TTGAAGCTATCCTCACCAAGG	0.418000														34			15		0	0	1	0	0
MRPS27	23107	broad.mit.edu	37	5	71516782	71516782	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:71516782G>A	uc011cse.2	-	11	1277	c.1241C>T	c.(1240-1242)gCg>gTg	p.A414V	MRPS27_uc003kca.4_Missense_Mutation_p.A344V|MRPS27_uc003kbz.4_Missense_Mutation_p.A400V|MRPS27_uc011csd.2_Missense_Mutation_p.A181V	NM_015084	NP_055899	Q92552	RT27_HUMAN	Homo sapiens mitochondrial ribosomal protein S27 (MRPS27), nuclear gene encoding mitochondrial protein, mRNA.	400						mitochondrion|ribosome				breast(1)|endometrium(1)|large_intestine(2)|lung(2)	6		Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.46e-53)		CTCCTGCTTCGCTTGCTCCCT	0.547000														53			47		0	0	1	0	0
NIT2	56954	broad.mit.edu	37	3	100058021	100058021	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:100058021C>T	uc003dtv.3	+	1	172	c.98C>T	c.(97-99)aCg>aTg	p.T33M	NIT2_uc011bha.1_Missense_Mutation_p.T33M	NM_020202	NP_064587	Q9NQR4	NIT2_HUMAN	Homo sapiens nitrilase family, member 2 (NIT2), mRNA.	33	CN hydrolase.				nitrogen compound metabolic process		omega-amidase activity			breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)	17						GAGGCAGCAACGCAAGGAGCC	0.502000														144			14		0	0	1	0	0
COL1A1	1277	broad.mit.edu	37	17	48272410	48272410	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:48272410G>A	uc002iqm.3	-	19	1477	c.1351C>T	c.(1351-1353)Cct>Tct	p.P451S		NM_000088	NP_000079	P02452	CO1A1_HUMAN	Homo sapiens collagen, type I, alpha 1 (COL1A1), mRNA.	451	Triple-helical region.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	AGACTTACAGGCTCTCCCTTA	0.612000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta							49			22		0	0	1	0	0
SGK196	84197	broad.mit.edu	37	8	42977492	42977492	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:42977492G>A	uc003xpw.2	+	4	784	c.525G>A	c.(523-525)tgG>tgA	p.W175*		NM_032237	NP_115613	Q9H5K3	SG196_HUMAN	Homo sapiens protein kinase-like protein SgK196 (SGK196), mRNA.	175	Protein kinase.					integral to membrane	ATP binding|protein kinase activity										TGAACACGTGGCAGCACAGGC	0.493000														22			16		0	0	1	0	0
NDUFV1	4723	broad.mit.edu	37	11	67376950	67376950	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:67376950C>T	uc001omj.2	+	3	507	c.354C>T	c.(352-354)gaC>gaT	p.D118D	NDUFV1_uc010rpv.1_Silent_p.D17D|NDUFV1_uc001omk.4_Silent_p.D109D|NDUFV1_uc001oml.2_Silent_p.D111D|NDUFV1_uc009yrz.1_Silent_p.D17D|NDUFV1_uc010rpw.1_5'Flank	NM_007103	NP_009034	P49821	NDUV1_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa (NDUFV1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	118					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|FMN binding|NAD binding|NADH dehydrogenase (ubiquinone) activity|metal ion binding			breast(1)|endometrium(3)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	16					NADH(DB00157)	TGAACGCAGACGAGGGGGAGC	0.657000														82			49		0	0	1	0	0
PRKCH	5583	broad.mit.edu	37	14	61997175	61997175	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:61997175C>T	uc001xfn.3	+	11	1928	c.1623C>T	c.(1621-1623)ggC>ggT	p.G541G	PRKCH_uc010tsa.2_Silent_p.G380G|PRKCH_uc010tsb.2_Silent_p.G109G	NM_006255	NP_006246	P24723	KPCL_HUMAN	Homo sapiens protein kinase C, eta (PRKCH), mRNA.	541	Protein kinase.				intracellular signal transduction|platelet activation	cytosol|plasma membrane	ATP binding|enzyme binding|metal ion binding|protein kinase C activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25				OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)		GGGCAATGGGCGTGTTGCTCT	0.517000														102			54		0	0	1	0	0
LRRC8C	84230	broad.mit.edu	37	1	90178373	90178373	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:90178373C>T	uc001dnl.4	+	2	486	c.244C>T	c.(244-246)Cct>Tct	p.P82S		NM_032270	NP_115646	Q8TDW0	LRC8C_HUMAN	Homo sapiens leucine rich repeat containing 8 family, member C (LRRC8C), mRNA.	82						endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		CACTCCACTGCCTCCACCTAA	0.478000														71			26		0	0	1	0	0
CLK2	1196	broad.mit.edu	37	1	155233072	155233072	+	Silent	SNP	G	A	A	rs146354358		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155233072G>A	uc001fjy.3	-	12	1727	c.1437C>T	c.(1435-1437)ttC>ttT	p.F479F	SCAMP3_uc001fjs.3_5'Flank|SCAMP3_uc001fjt.3_5'Flank|CLK2_uc001fjw.3_Silent_p.F478F|CLK2_uc001fjx.3_Silent_p.F251F|CLK2_uc009wqm.3_Silent_p.F479F	NM_003993	NP_003984	P49760	CLK2_HUMAN	Homo sapiens CDC-like kinase 2 (CLK2), mRNA.	479	Protein kinase.					nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GAAGGCGGGCGAAGAAAGGAT	0.562000								Other conserved DNA damage response genes						27			21		0	0	1	0	0
B3GNT4	79369	broad.mit.edu	37	12	122691477	122691477	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:122691477A>G	uc001ubx.3	+	2	897	c.679A>G	c.(679-681)Aac>Gac	p.N227D	B3GNT4_uc001uby.3_Missense_Mutation_p.N202D	NM_030765	NP_110392	Q9C0J1	B3GN4_HUMAN	Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4 (B3GNT4), mRNA.	227					protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	13	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000297)|Epithelial(86;0.000497)|BRCA - Breast invasive adenocarcinoma(302;0.222)		CCACGTCCCCAACGTGTTAGA	0.592000														24			28		0	0	1	0	0
ARHGEF10	9639	broad.mit.edu	37	8	1817379	1817379	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:1817379C>T	uc003wpr.3	+	6	820	c.642C>T	c.(640-642)taC>taT	p.Y214Y	ARHGEF10_uc003wpq.1_Silent_p.Y239Y|ARHGEF10_uc003wps.3_Silent_p.Y215Y|ARHGEF10_uc003wpt.3_Silent_p.Y129Y|ARHGEF10_uc010lrd.2_Silent_p.Y129Y|ARHGEF10_uc003wpu.3_Silent_p.Y128Y|ARHGEF10_uc022aqp.1_5'Flank	NM_014629	NP_055444	O15013	ARHGA_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 10 (ARHGEF10), mRNA.	239					centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	Rho guanyl-nucleotide exchange factor activity|kinesin binding			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		AAGCAATTTACGATGACGTTC	0.443000														46			30		0	0	1	0	0
PPFIBP1	8496	broad.mit.edu	37	12	27841240	27841240	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:27841240G>A	uc001ric.2	+	24	2775	c.2398G>A	c.(2398-2400)Gcc>Acc	p.A800T	PPFIBP1_uc010sjr.1_Missense_Mutation_p.A631T|PPFIBP1_uc001rib.2_Missense_Mutation_p.A794T|PPFIBP1_uc001ria.3_Missense_Mutation_p.A769T|PPFIBP1_uc001rid.2_Missense_Mutation_p.A647T|PPFIBP1_uc001rif.2_Missense_Mutation_p.A307T|TRNA_Lys_uc021qwh.1_5'Flank	NM_177444	NP_803193	Q86W92	LIPB1_HUMAN	Homo sapiens PTPRF interacting protein, binding protein 1 (liprin beta 1) (PPFIBP1), transcript variant 2, mRNA.	800					cell adhesion	plasma membrane	protein binding		PPFIBP1/ALK(3)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32	Lung SC(9;0.0873)					GAATACCATCGCCCCATCAGA	0.468000														207			25		0	0	1	0	0
ZNF441	126068	broad.mit.edu	37	19	11888483	11888483	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:11888483C>A	uc010dyj.3	+	1	255	c.61C>A	c.(61-63)Ctg>Atg	p.L21M	ZNF441_uc002msn.4_5'UTR	NM_152355	NP_689568	Q8N8Z8	ZN441_HUMAN	Homo sapiens zinc finger protein 441 (ZNF441), mRNA.	21	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GTGGGCTTTGCTGGGTCCATC	0.433000														30			5		0.014758	0.0151755	1	1	0
UBL4A	8266	broad.mit.edu	37	X	153714147	153714147	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153714147G>A	uc004flo.3	-	2	335	c.326C>T	c.(325-327)gCg>gTg	p.A109V		NM_014235	NP_055050	P11441	UBL4A_HUMAN	Homo sapiens ubiquitin-like 4A (UBL4A), mRNA.	109					protein modification process|tail-anchored membrane protein insertion into ER membrane|transport	BAT3 complex	small conjugating protein ligase activity	p.A109V(2)		endometrium(5)|lung(1)|urinary_tract(1)	7	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGCATCTGCCGCACTGAAGTG	0.622000														59			37		0	0	1	0	0
KCNJ8	3764	broad.mit.edu	37	12	21919215	21919215	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:21919215C>A	uc001rff.3	-	2	1055	c.717G>T	c.(715-717)gaG>gaT	p.E239D		NM_004982	NP_004973	Q15842	IRK8_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 8 (KCNJ8), mRNA.	239						voltage-gated potassium channel complex				cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Levosimendan(DB00922)	TAGGAACCACCTCCCCTTCAG	0.478000														43			16		1.99824e-07	2.30332e-07	1	1	0
PABPC4	8761	broad.mit.edu	37	1	40035600	40035600	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:40035600A>G	uc001cdl.2	-	3	1476	c.578T>C	c.(577-579)gTt>gCt	p.V193A	PABPC4_uc010oiv.1_Missense_Mutation_p.V193A|PABPC4_uc001cdm.2_Missense_Mutation_p.V193A|SNORA55_uc001cdo.1_5'Flank	NM_001135653	NP_001129125	Q13310	PABP4_HUMAN	Homo sapiens poly(A) binding protein, cytoplasmic 4 (inducible form) (PABPC4), transcript variant 1, mRNA.	193	RRM 3.				RNA catabolic process|RNA processing|blood coagulation|translation	cytoplasm|ribonucleoprotein complex	nucleotide binding|poly(A) RNA binding|poly(U) RNA binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3)	21	Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			TTTGATATAAACATTGGTGAA	0.428000														56			43		0	0	1	0	0
MTMR1	8776	broad.mit.edu	37	X	149905195	149905195	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:149905195C>T	uc004feh.1	+	10	1344	c.1209C>T	c.(1207-1209)atC>atT	p.I403I	MTMR1_uc011mya.1_Silent_p.I301I|MTMR1_uc004fei.3_Silent_p.I395I|MTMR1_uc004fej.3_Non-coding_Transcript|MTMR1_uc010ntf.3_Intron	NM_003828	NP_003819	Q13613	MTMR1_HUMAN	Homo sapiens myotubularin related protein 1 (MTMR1), mRNA.	395	Myotubularin phosphatase.					plasma membrane	protein tyrosine phosphatase activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					ACCCTTCGATCGATGAGGCGC	0.448000														45			27		0	0	1	0	0
SLC16A6	9120	broad.mit.edu	37	17	66274235	66274235	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:66274235A>G	uc002jha.2	-	2	540	c.227T>C	c.(226-228)tTt>tCt	p.F76S	ARSG_uc002jhc.2_Intron|SLC16A6_uc002jgz.2_Missense_Mutation_p.F76S	NM_001174166	NP_004685	O15403	MOT7_HUMAN	Homo sapiens solute carrier family 16, member 6 (monocarboxylic acid transporter 7) (SLC16A6), transcript variant 1, mRNA.	76						integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity			large_intestine(3)|lung(8)|prostate(1)|skin(1)|urinary_tract(2)	15	all_cancers(12;1.24e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		Pyruvic acid(DB00119)	CTAACCTGAAAATGTTAAGAC	0.373000														16			16		0	0	1	0	0
SPATA2L	124044	broad.mit.edu	37	16	89764095	89764095	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:89764095A>G	uc002foj.3	-	2	1009	c.922T>C	c.(922-924)Tcc>Ccc	p.S308P	SPATA2L_uc002fok.3_Intron	NM_152339	NP_689552	Q8IUW3	SPA2L_HUMAN	Homo sapiens spermatogenesis associated 2-like (SPATA2L), mRNA.	308										breast(1)|cervix(1)|endometrium(1)|lung(2)|skin(1)	6		Lung NSC(15;0.00043)|all_lung(18;0.000665)|all_hematologic(23;0.0355)		BRCA - Breast invasive adenocarcinoma(80;0.0272)		GAGAGGAAGGAGAAGGCGGAA	0.692000														27			3		0	0	1	0	0
RSPH1	89765	broad.mit.edu	37	21	43897497	43897497	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:43897497C>A	uc002zbg.3	-	6	736	c.631G>T	c.(631-633)Gct>Tct	p.A211S		NM_080860	NP_543136	Q8WYR4	RSPH1_HUMAN	Homo sapiens radial spoke head 1 homolog (Chlamydomonas) (RSPH1), mRNA.	211					meiosis	cytosol|nucleus				large_intestine(7)|lung(2)|ovary(1)|prostate(1)|stomach(1)	12						ATTTGGGTAGCTTTCCATTTT	0.453000														63			33		2.81731e-10	3.39543e-10	1	1	0
KIAA1755	85449	broad.mit.edu	37	20	36841593	36841593	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:36841593G>A	uc002xhy.1	-	13	3726	c.3454C>T	c.(3454-3456)Cat>Tat	p.H1152Y	KIAA1755_uc002xhv.1_Missense_Mutation_p.H216Y|KIAA1755_uc002xhw.1_Missense_Mutation_p.H207Y|KIAA1755_uc002xhx.1_Missense_Mutation_p.H430Y	NM_001029864	NP_001025035	Q5JYT7	K1755_HUMAN	Homo sapiens KIAA1755 (KIAA1755), mRNA.	1152										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				GCAAGCAAATGCTCGCGGGCA	0.647000														29			24		0	0	1	0	0
RAP1GAP2	23108	broad.mit.edu	37	17	2908723	2908723	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:2908723G>A	uc010ckd.3	+	14	1351	c.1261G>A	c.(1261-1263)Gtt>Att	p.V421I	RAP1GAP2_uc010cke.3_Missense_Mutation_p.V406I	NM_015085	NP_055900	Q684P5	RPGP2_HUMAN	Homo sapiens RAP1 GTPase activating protein 2 (RAP1GAP2), transcript variant 1, mRNA.	421	Rap-GAP.				regulation of small GTPase mediated signal transduction	centrosome|cytosol|perinuclear region of cytoplasm	GTPase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	11						CAGTCCCCCCGTTTTCCAGAA	0.562000														87			71		0	0	1	0	0
CLEC1B	51266	broad.mit.edu	37	12	10151675	10151675	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:10151675T>G	uc001qwu.3	-	0	225	c.25A>C	c.(25-27)Acc>Ccc	p.T9P	CLEC1B_uc009zhd.3_Missense_Mutation_p.T9P	NM_016509	NP_057593	Q9P126	CLC1B_HUMAN	Homo sapiens C-type lectin domain family 1, member B (CLEC1B), transcript variant 1, mRNA.	9					cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	protein binding|sugar binding|transmembrane receptor activity	p.T9T(1)		NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(12)|stomach(1)|urinary_tract(1)	19						ATATTTAAGGTGATGTATCCA	0.363000														190			13		0	0	1	0	0
PMP2	5375	broad.mit.edu	37	8	82359586	82359586	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:82359586G>T	uc003ycb.1	-	0	134	c.36C>A	c.(34-36)gtC>gtA	p.V12V	PMP2_uc010lzv.1_Non-coding_Transcript	NM_002677	NP_002668	P02689	MYP2_HUMAN	Homo sapiens peripheral myelin protein 2 (PMP2), mRNA.	12						cytoplasm	cholesterol binding|fatty acid binding|transporter activity	p.L11L(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6			Epithelial(68;0.186)			TCTCACTAGAGACAAGTTTCC	0.408000														84			25		1.32181e-22	1.71781e-22	1	1	0
abParts	0	broad.mit.edu	37	14	107199127	107199127	+	RNA	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:107199127G>T	uc021ser.1	-	16		c.1562C>A								Parts of antibodies, mostly variable regions.																		GGCGGACCCAGTCCATGTAGT	0.587000														43			33		1.26612e-14	1.58817e-14	1	1	0
DOK4	55715	broad.mit.edu	37	16	57509501	57509501	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:57509501G>A	uc010cdb.3	-	2	466	c.206C>T	c.(205-207)aCg>aTg	p.T69M	DOK4_uc002elv.4_Missense_Mutation_p.T69M	NM_018110	NP_060580	Q8TEW6	DOK4_HUMAN	Homo sapiens docking protein 4 (DOK4), mRNA.	69	PH.						insulin receptor binding			kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(2)	6						GGGGAGCCGCGTAACACACTT	0.572000														7			5		0	0	1	0	0
PARVA	55742	broad.mit.edu	37	11	12518085	12518085	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:12518085C>A	uc001mki.3	+	4	650	c.481C>A	c.(481-483)Ctg>Atg	p.L161M	PARVA_uc010rck.1_Missense_Mutation_p.L108M	NM_018222	NP_060692	Q9NVD7	PARVA_HUMAN	Homo sapiens parvin, alpha (PARVA), mRNA.	161	CH 1.				cell adhesion|cell junction assembly|cilium morphogenesis	actin cytoskeleton|cytosol|focal adhesion	actin binding			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)	11				Epithelial(150;0.00624)		GCAGACTGTCCTGGAGAAGAT	0.468000														10			6		0.217242	0.21859	1	1	0
GAL3ST4	79690	broad.mit.edu	37	7	99757975	99757975	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:99757975C>T	uc003utt.3	-	2	2054	c.1037G>A	c.(1036-1038)aGt>aAt	p.S346N	C7orf43_uc011kjj.2_5'Flank|C7orf43_uc003utr.3_5'Flank|C7orf43_uc003uts.3_5'Flank|GAL3ST4_uc022aii.1_Missense_Mutation_p.S284N|GAL3ST4_uc003utu.3_Missense_Mutation_p.S346N	NM_024637	NP_078913	Q96RP7	G3ST4_HUMAN	Homo sapiens galactose-3-O-sulfotransferase 4 (GAL3ST4), mRNA.	346					cell-cell signaling|oligosaccharide metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane|membrane fraction	3'-phosphoadenosine 5'-phosphosulfate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(5)|prostate(1)|upper_aerodigestive_tract(1)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AGTCAGTCCACTGTTGCTGAC	0.612000														41			49		0	0	1	0	0
SLC22A3	6581	broad.mit.edu	37	6	160864714	160864714	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:160864714G>A	uc003qti.3	+	8	1477	c.1450G>A	c.(1450-1452)Gcc>Acc	p.A484T	SLC22A3_uc011efx.2_Non-coding_Transcript	NM_021977	NP_068812	O75751	S22A3_HUMAN	Homo sapiens solute carrier family 22 (extraneuronal monoamine transporter), member 3 (SLC22A3), mRNA.	484						integral to plasma membrane|membrane fraction	protein binding|quaternary ammonium group transmembrane transporter activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218)		OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06)		GGGAATCATAGCCCCATTTCT	0.403000														43			20		0	0	1	0	0
MTSS1	9788	broad.mit.edu	37	8	125575091	125575091	+	Nonsense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:125575091C>A	uc003yrl.2	-	10	1513	c.979G>T	c.(979-981)Gga>Tga	p.G327*	NDUFB9_uc011lim.1_Intron|MTSS1_uc011lin.1_Nonsense_Mutation_p.G57*|MTSS1_uc011lio.1_Nonsense_Mutation_p.G213*|MTSS1_uc003yri.2_Nonsense_Mutation_p.G123*|MTSS1_uc003yrj.2_Nonsense_Mutation_p.G323*|MTSS1_uc003yrk.2_Nonsense_Mutation_p.G323*	NM_014751	NP_055566	O43312	MTSS1_HUMAN	Homo sapiens metastasis suppressor 1 (MTSS1), mRNA.	323	Ser-rich.				actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway	actin cytoskeleton|endocytic vesicle|ruffle	SH3 domain binding|actin monomer binding|cytoskeletal adaptor activity|receptor binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			GATATGAATCCTGAGTCATGG	0.622000														33			18		4.96729e-08	5.78267e-08	1	1	0
LRRN4	164312	broad.mit.edu	37	20	6022181	6022181	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:6022181G>A	uc002wmo.2	-	4	1934	c.1710C>T	c.(1708-1710)tgC>tgT	p.C570C		NM_152611	NP_689824	Q8WUT4	LRRN4_HUMAN	Homo sapiens leucine rich repeat neuronal 4 (LRRN4), mRNA.	570						integral to membrane				breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						TGAGGCCGGGGCACCGGCACC	0.701000														58			33		0	0	1	0	0
POLE2	5427	broad.mit.edu	37	14	50122474	50122474	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:50122474C>T	uc001wwu.3	-	10	1020	c.843G>A	c.(841-843)gaG>gaA	p.E281E	NEMF_uc010anj.1_Intron|POLE2_uc010ann.3_5'UTR|POLE2_uc021rsr.1_Silent_p.E255E|POLE2_uc010ano.3_Silent_p.E281E	NM_002692	NP_002683	P56282	DPOE2_HUMAN	Homo sapiens polymerase (DNA directed), epsilon 2 (p59 subunit) (POLE2), transcript variant 1, mRNA.	281					DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	10	all_epithelial(31;0.0021)|Breast(41;0.0124)					CATCTTTATTCTCCTCTTCTA	0.333000														137			81		0	0	1	0	0
CSNK2A1	1457	broad.mit.edu	37	20	469369	469369	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:469369G>A	uc002wdw.1	-	10	1170	c.777C>T	c.(775-777)gaC>gaT	p.D259D	CSNK2A1_uc002wdx.1_Silent_p.D259D|CSNK2A1_uc002wdy.1_Silent_p.D123D	NM_177559	NP_808228	P68400	CSK21_HUMAN	Homo sapiens casein kinase 2, alpha 1 polypeptide (CSNK2A1), transcript variant 1, mRNA.	259	Protein kinase.				Wnt receptor signaling pathway|axon guidance	NuRD complex|Sin3 complex|cytosol|plasma membrane	ATP binding|protein N-terminus binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.0969)			TGTTGTATTTGTCAATATAGT	0.348000														85			15		0	0	1	0	0
GTF3C5	9328	broad.mit.edu	37	9	135926232	135926232	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:135926232G>A	uc004ccj.4	+	3	972	c.635G>A	c.(634-636)cGc>cAc	p.R212H	GTF3C5_uc010mzz.2_Missense_Mutation_p.R87H|GTF3C5_uc004cci.4_Missense_Mutation_p.R212H	NM_001122823	NP_001116295	Q9Y5Q8	TF3C5_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 5, 63kDa (GTF3C5), transcript variant 1, mRNA.	212						transcription factor TFIIIC complex	DNA binding|protein binding	p.R212H(2)		endometrium(5)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;4.01e-06)|Epithelial(140;4e-05)		AGAGCCCGGCGCCCCCACAAT	0.587000														41			20		0	0	1	0	0
DKC1	1736	broad.mit.edu	37	X	153993731	153993731	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153993731G>A	uc004fmm.3	+	2	307	c.97G>A	c.(97-99)Gct>Act	p.A33T	DKC1_uc010nvf.3_Missense_Mutation_p.A33T	NM_001363	NP_001354	O60832	DKC1_HUMAN	Homo sapiens dyskeratosis congenita 1, dyskerin (DKC1), transcript variant 1, mRNA.	33					cell proliferation|pseudouridine synthesis|rRNA processing|telomere maintenance via telomerase	Cajal body|nucleolus|telomerase holoenzyme complex	RNA binding|protein binding|pseudouridine synthase activity|telomerase activity			breast(2)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)	15	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					AATACAACACGCTGAAGAATT	0.388000									Congenital Dyskeratosis					150			85		0	0	1	0	0
C7orf25	79020	broad.mit.edu	37	7	42950214	42950214	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:42950214C>A	uc003thx.4	-	1	945	c.460G>T	c.(460-462)Gat>Tat	p.D154Y	C7orf25_uc010kxq.3_Missense_Mutation_p.D96Y|C7orf25_uc010kxr.3_Missense_Mutation_p.D154Y|C7orf25_uc022ace.1_Missense_Mutation_p.D96Y	NM_001099858	NP_076959	Q9BPX7	CG025_HUMAN	Homo sapiens chromosome 7 open reading frame 25 (C7orf25), transcript variant 1, mRNA.	96										endometrium(6)|kidney(1)|large_intestine(7)|lung(2)|skin(1)	17						CCTAAGGTATCTGTATAACCA	0.428000														188			13		0.00316338	0.0033099	1	1	0
SLCO1B3	28234	broad.mit.edu	37	12	21229457	21229457	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:21229457T>C	uc010sil.2	+	14	2067	c.2002T>C	c.(2002-2004)Tgt>Cgt	p.C668R	SLCO1B3_uc010sim.2_Missense_Mutation_p.C607R|SLCO1B3_uc010sin.2_Missense_Mutation_p.C560R			Q9NPD5	SO1B3_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1B3 (SLCO1B3), mRNA.	638					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					CACCAACAGCTGTGGAGCACG	0.348000														121			85		0	0	1	0	0
KCNIP4	80333	broad.mit.edu	37	4	20733666	20733666	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:20733666A>G	uc021xmt.1	-	7	788	c.668T>C	c.(667-669)gTt>gCt	p.V223A	KCNIP4_uc003gqe.2_Missense_Mutation_p.V206A|KCNIP4_uc003gqf.1_Missense_Mutation_p.V202A|KCNIP4_uc003gqg.1_Missense_Mutation_p.V161A|KCNIP4_uc003gqh.1_Missense_Mutation_p.V198A|KCNIP4_uc003gqi.1_Missense_Mutation_p.V161A|KCNIP4_uc021xmu.1_Missense_Mutation_p.V189A|PACRGL_uc003gpu.3_Intron|KCNIP4_uc021xms.1_Missense_Mutation_p.V186A	NM_025221	NP_671711	Q6PIL6	KCIP4_HUMAN	Homo sapiens Kv channel interacting protein 4 (KCNIP4), transcript variant 1, mRNA.	223	EF-hand 4.					plasma membrane	calcium ion binding|potassium channel activity|protein binding|voltage-gated ion channel activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13		Breast(46;0.134)				TATGGTAACAACCCCATCTTT	0.338000														49			5		0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38938518	38938518	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:38938518G>A	uc021wvy.1	-	13	2420	c.2221C>T	c.(2221-2223)Ccg>Tcg	p.P741S	SCN11A_uc010hhn.1_5'Flank	NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	741					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	GAGACTGTCGGGCCTGTCGGG	0.488000														49			4		0	0	1	0	0
MARCH5	54708	broad.mit.edu	37	10	94109579	94109579	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:94109579A>G	uc001khx.1	+	4	1037	c.705A>G	c.(703-705)ttA>ttG	p.L235L	MARCH5_uc010qno.1_Silent_p.L131L	NM_017824	NP_060294	Q9NX47	MARH5_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 5 (MARCH5), mRNA.	235					cell aging|protein autoubiquitination|protein localization in mitochondrion|protein polyubiquitination|regulation of mitochondrial fission	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	GTPase binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						ACTCTAATTTACAAAGGACAA	0.343000														68			40		0	0	1	0	0
PPP2R2D	55844	broad.mit.edu	37	10	133761112	133761112	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:133761112G>A	uc001lks.3	+	5	801	c.800G>A	c.(799-801)aGt>aAt	p.S267N	PPP2R2D_uc001lkr.3_Missense_Mutation_p.S73N|PPP2R2D_uc001lkt.3_Missense_Mutation_p.S73N|PPP2R2D_uc009yay.3_Missense_Mutation_p.S135N	NM_018461	NP_060931	Q66LE6	2ABD_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B, delta (PPP2R2D), transcript variant 1, mRNA.	300					cell division|exit from mitosis|mitosis|signal transduction	cytoplasm|protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity			endometrium(3)|large_intestine(3)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13		all_cancers(35;2.16e-12)|all_epithelial(44;2.77e-09)|Lung NSC(174;0.00237)|all_lung(145;0.00354)|Colorectal(31;0.0124)|Breast(234;0.023)|all_neural(114;0.0299)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;7.86e-05)|Epithelial(32;8.82e-05)|all cancers(32;0.000106)|BRCA - Breast invasive adenocarcinoma(275;0.21)		GTAAAATTCAGTCATAGTGGG	0.463000														46			4		0	0	1	0	0
CEP290	80184	broad.mit.edu	37	12	88514803	88514803	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:88514803C>T	uc001tar.3	-	13	1674	c.1330G>A	c.(1330-1332)Gct>Act	p.A444T	CEP290_uc001tat.3_Missense_Mutation_p.A206T|CEP290_uc009zsl.1_Non-coding_Transcript	NM_025114	NP_079390	O15078	CE290_HUMAN	Homo sapiens centrosomal protein 290kDa (CEP290), mRNA.	444					G2/M transition of mitotic cell cycle|cilium assembly|eye photoreceptor cell development|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding			breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						CTCTTCAGAGCCTCAACTAAT	0.368000														32			4		0	0	1	0	0
TCTEX1D2	255758	broad.mit.edu	37	3	196043050	196043050	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:196043050G>A	uc003fwi.3	-	1	308	c.166C>T	c.(166-168)Ctg>Ttg	p.L56L	TM4SF19_uc003fwj.3_Non-coding_Transcript|AK124973_uc003fwk.1_5'Flank	NM_152773	NP_689986	Q8WW35	TC1D2_HUMAN	Homo sapiens Tctex1 domain containing 2 (TCTEX1D2), mRNA.	56							protein binding			breast(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)	7	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;3.94e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.53e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00314)		GCATTTGCCAGTTCCTCCTTG	0.403000														19			19		0	0	1	0	0
SNRPN	6638	broad.mit.edu	37	15	25207266	25207266	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:25207266G>A	uc001ywu.3	+	1	146	c.20G>A	c.(19-21)cGc>cAc	p.R7H	SNRPN_uc001ywp.1_5'UTR|SNRPN_uc001ywq.1_5'UTR|SNRPN_uc001ywr.1_5'UTR|SNRPN_uc001yws.1_5'UTR|SNRPN_uc001ywt.1_5'UTR|SNRPN_uc001ywy.1_5'UTR|SNRPN_uc001ywz.1_Non-coding_Transcript|SNRPN_uc001yxa.1_Non-coding_Transcript|SNRPN_uc021sga.1_5'UTR	NM_022804	NP_073715	P63162	RSMN_HUMAN	Homo sapiens SNRPN upstream reading frame (SNURF), transcript variant 2, mRNA.	0					RNA splicing	small nuclear ribonucleoprotein complex|spliceosomal complex	RNA binding|identical protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2)	24		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)		TTCAGGGATCGCTTACACCTG	0.408000									Prader-Willi syndrome					34			23		0	0	1	0	0
RSPRY1	89970	broad.mit.edu	37	16	57255217	57255217	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:57255217C>T	uc002elb.3	+	9	1329	c.1051C>T	c.(1051-1053)Cgt>Tgt	p.R351C	RSPRY1_uc002elc.3_Missense_Mutation_p.R351C|RSPRY1_uc002eld.3_Missense_Mutation_p.R351C	NM_133368	NP_588609	Q96DX4	RSPRY_HUMAN	Homo sapiens ring finger and SPRY domain containing 1 (RSPRY1), mRNA.	351	B30.2/SPRY.					extracellular region	zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3)	27						TGAAAGTGTGCGTTGCACCTT	0.483000														81			51		0	0	1	0	0
MLLT10	8028	broad.mit.edu	37	10	22002827	22002827	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:22002827C>T	uc021pny.1	+	12	1826	c.1826C>T	c.(1825-1827)gCg>gTg	p.A609V	MLLT10_uc001iqs.3_Missense_Mutation_p.A625V|MLLT10_uc001iqv.3_Non-coding_Transcript|MLLT10_uc001iqt.3_Missense_Mutation_p.A609V|MLLT10_uc001ira.3_Missense_Mutation_p.A66V|MLLT10_uc001irb.3_Non-coding_Transcript	NM_001195626	NP_001182555	P55197	AF10_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10 (MLLT10), transcript variant 3, mRNA.	625	DNA-binding.				positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						CAAGTAGGAGCGCTCTCTCCC	0.483000			T	"""MLL, PICALM, CDK6"""	AL									57			6		0	0	1	0	0
ARHGEF17	9828	broad.mit.edu	37	11	73020777	73020777	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:73020777C>A	uc001otu.3	+	0	1115	c.1094C>A	c.(1093-1095)tCt>tAt	p.S365Y	ARHGEF17_uc021qnc.1_Missense_Mutation_p.S365Y	NM_014786	NP_055601	Q96PE2	ARHGH_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 17 (ARHGEF17), mRNA.	365					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						ATGTCTGACTCTGTGGGAGGA	0.642000														83			6		0.00116845	0.00123466	1	1	0
METAP2	10988	broad.mit.edu	37	12	95907642	95907642	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:95907642A>G	uc001tec.3	+	10	1533	c.1399A>G	c.(1399-1401)Aca>Gca	p.T467A	METAP2_uc010suv.2_Missense_Mutation_p.T444A|METAP2_uc001tef.3_Missense_Mutation_p.T444A|METAP2_uc001tee.3_Non-coding_Transcript	NM_006838	NP_006829	P50579	AMPM2_HUMAN	Homo sapiens methionyl aminopeptidase 2 (METAP2), mRNA.	467					N-terminal protein amino acid modification|peptidyl-methionine modification|protein processing|proteolysis	cytoplasm	aminopeptidase activity|metal ion binding|metalloexopeptidase activity			endometrium(3)|large_intestine(2)|lung(7)|prostate(1)	13					L-Methionine(DB00134)	GTTGCGTCCAACATGTAAAGA	0.393000														80			8		0	0	1	0	0
VWA1	64856	broad.mit.edu	37	1	1372468	1372468	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:1372468G>A	uc001afs.3	+	1	461	c.235G>A	c.(235-237)Ggc>Agc	p.G79S	VWA1_uc001afr.3_Intron	NM_022834	NP_073745	Q6PCB0	VWA1_HUMAN	Homo sapiens von Willebrand factor A domain containing 1 (VWA1), transcript variant 1, mRNA.	79	VWFA.					basement membrane				NS(1)|breast(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GGTGCACGTGGGCAGTCGGCC	0.677000														12			7		0	0	1	0	0
GPR116	221395	broad.mit.edu	37	6	46836653	46836653	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:46836653G>T	uc003oyo.3	-	11	1877	c.1588C>A	c.(1588-1590)Ctg>Atg	p.L530M	GPR116_uc011dwj.1_Missense_Mutation_p.L85M|GPR116_uc011dwk.1_5'UTR|GPR116_uc003oyp.3_Missense_Mutation_p.L388M|GPR116_uc003oyq.3_Missense_Mutation_p.L530M|GPR116_uc010jzi.1_Missense_Mutation_p.L202M	NM_001098518	NP_056049	Q8IZF2	GP116_HUMAN	Homo sapiens G protein-coupled receptor 116 (GPR116), transcript variant 2, mRNA.	530	Ig-like 3.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			TTGACTGTCAGTACTGATTCT	0.438000														53			31		4.65686e-17	5.91956e-17	1	1	0
MYH7	4625	broad.mit.edu	37	14	23893176	23893176	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:23893176G>A	uc001wjx.3	-	22	2968	c.2862C>T	c.(2860-2862)atC>atT	p.I954I		NM_000257	NP_000248	P12883	MYH7_HUMAN	Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA.	954					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CCAGATCATCGATGTCCCTTT	0.537000														41			40		0	0	1	0	0
IRGQ	126298	broad.mit.edu	37	19	44097491	44097491	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:44097491C>T	uc002oww.2	-	1	677	c.559G>A	c.(559-561)Gag>Aag	p.E187K	IRGQ_uc010eiv.2_Missense_Mutation_p.E187K	NM_001007561	NP_001007562	Q8WZA9	IRGQ_HUMAN	Homo sapiens immunity-related GTPase family, Q (IRGQ), mRNA.	187							protein binding			endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3)	18		Prostate(69;0.0199)				CCCAACACCTCGAAGCCATCC	0.637000														30			27		0	0	1	0	0
FOXF2	2295	broad.mit.edu	37	6	1394964	1394964	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:1394964C>A	uc003mtm.3	+	1	1319	c.1205C>A	c.(1204-1206)cCa>cAa	p.P402Q		NM_001452	NP_001443	Q12947	FOXF2_HUMAN	Homo sapiens forkhead box F2 (FOXF2), mRNA.	402					epithelial to mesenchymal transition|genitalia development|palate development|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			large_intestine(2)|lung(5)|prostate(1)	8	Ovarian(93;0.0733)	all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.095)		CACTCTACTCCAGTGTGTGAC	0.463000														55			47		1.47857e-17	1.88604e-17	1	1	0
ACSL4	2182	broad.mit.edu	37	X	108917675	108917675	+	Nonsense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:108917675C>A	uc004eoi.2	-	9	1586	c.1081G>T	c.(1081-1083)Gga>Tga	p.G361*	ACSL4_uc004eoj.2_Nonsense_Mutation_p.G320*|ACSL4_uc004eok.2_Nonsense_Mutation_p.G320*|ACSL4_uc010npp.1_Nonsense_Mutation_p.G361*	NM_022977	NP_004449	O60488	ACSL4_HUMAN	Homo sapiens acyl-CoA synthetase long-chain family member 4 (ACSL4), transcript variant 2, mRNA.	361					fatty acid metabolic process|learning or memory|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)	22					Icosapent(DB00159)|Troglitazone(DB00197)	GTACAGTCTCCTTTGCTTCCT	0.308000														41			5		0.217242	0.21859	1	1	0
PTCHD1	139411	broad.mit.edu	37	X	23411054	23411054	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:23411054G>T	uc004dal.4	+	2	1427	c.1419G>T	c.(1417-1419)gaG>gaT	p.E473D		NM_173495	NP_775766	Q96NR3	PTHD1_HUMAN	Homo sapiens patched domain containing 1 (PTCHD1), mRNA.	473					cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						CTGAAGGCGAGGAAGCGAACA	0.483000														135			53		9.40368e-32	1.24219e-31	1	1	0
DHRS7C	201140	broad.mit.edu	37	17	9674949	9674949	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:9674949G>A	uc010vvb.2	-	5	808	c.795C>T	c.(793-795)acC>acT	p.T265T	DHRS7C_uc010cof.3_Silent_p.T264T	NM_001220493	NP_001207422	A6NNS2	DRS7C_HUMAN	Homo sapiens dehydrogenase/reductase (SDR family) member 7C (DHRS7C), transcript variant 1, mRNA.	265						extracellular region	binding|oxidoreductase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	15						TCCTCCGCACGGTGCGCATCA	0.607000														3			4		0	0	1	0	0
TPM3	7170	broad.mit.edu	37	1	154163714	154163714	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:154163714G>T	uc001fec.1	-	1	306	c.191C>A	c.(190-192)gCt>gAt	p.A64D		NM_152263	NP_689476	P06753	TPM3_HUMAN	Homo sapiens tropomyosin 3 (TPM3), transcript variant 1, mRNA.	63					cellular component movement|muscle filament sliding|regulation of muscle contraction	cytosol|muscle thin filament tropomyosin|stress fiber	actin binding		TPM3/NTRK1_ENST00000392302(70)|TPM3/ALK(33)	breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)					ATCCTTCAAAGCTTCAGAATA	0.488000			T	"""NTRK1, ALK, ROS1"""	"""papillary thyroid, ALCL, NSCLC"""									87			21		2.37509e-13	2.95421e-13	1	1	0
OR3A4P	390756	broad.mit.edu	37	17	3214117	3214117	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:3214117C>A	uc002fvi.2	+	0	579	c.513C>A	c.(511-513)ttC>ttA	p.F171L						Homo sapiens olfactory receptor, family 3, subfamily A, member 4 pseudogene (OR3A4P), non-coding RNA.																		CTCTTAACTTCTGTGGCCCCA	0.522000														117			8		0.00307968	0.00322291	1	1	0
ZNF91	7644	broad.mit.edu	37	19	23544668	23544668	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:23544668A>G	uc002nre.3	-	3	1226	c.1113T>C	c.(1111-1113)acT>acC	p.T371T	ZNF91_uc010xrj.2_Silent_p.T339T	NM_003430	NP_003421	Q05481	ZNF91_HUMAN	Homo sapiens zinc finger protein 91 (ZNF91), mRNA.	371						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				CTTCAGTATGAGTTATCTTAT	0.348000														60			9		0	0	1	0	0
TBC1D14	57533	broad.mit.edu	37	4	7026800	7026800	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:7026800C>T	uc011bwg.2	+	12	1906	c.1827C>T	c.(1825-1827)cgC>cgT	p.R609R	TBC1D14_uc003gjs.4_Silent_p.R609R|TBC1D14_uc010idh.3_Silent_p.R329R|TBC1D14_uc011bwh.2_Silent_p.R256R|TBC1D14_uc003gju.4_Silent_p.R100R	NM_001113361	NP_065824	Q9P2M4	TBC14_HUMAN	Homo sapiens TBC1 domain family, member 14 (TBC1D14), transcript variant 2, mRNA.	609	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			breast(1)|endometrium(5)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	22						TGTTCTGTCGCGATGGGGAAG	0.507000														112			68		0	0	1	0	0
DCAF10	79269	broad.mit.edu	37	9	37854804	37854804	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:37854804G>T	uc004aao.3	+	3	953	c.879G>T	c.(877-879)aaG>aaT	p.K293N	DCAF10_uc010mlz.3_Missense_Mutation_p.K120N|DCAF10_uc004aap.3_5'UTR	NM_024345	NP_077321	Q5QP82	DCA10_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 10 (DCAF10), mRNA.	293						CUL4 RING ubiquitin ligase complex				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	12						GTCCACATAAGAAATTCTTTC	0.343000														121			13		2.61681e-11	3.19342e-11	1	1	0
ZDHHC4	55146	broad.mit.edu	37	7	6621738	6621738	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:6621738C>T	uc003sqi.3	+	5	584	c.226C>T	c.(226-228)Caa>Taa	p.Q76*	ZDHHC4_uc003sql.3_Nonsense_Mutation_p.Q76*|ZDHHC4_uc003sqj.3_Nonsense_Mutation_p.Q76*|ZDHHC4_uc003sqh.3_Nonsense_Mutation_p.Q76*	NM_001134388	NP_060576	Q9NPG8	ZDHC4_HUMAN	Homo sapiens zinc finger, DHHC-type containing 4 (ZDHHC4), transcript variant 2, mRNA.	76						integral to membrane	acyltransferase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.1)		CCTGGTCTTGCAAGGGATGGT	0.453000														149			53		0	0	1	0	0
KRT26	353288	broad.mit.edu	37	17	38927952	38927952	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:38927952G>A	uc002hvf.3	-	0	460	c.414C>T	c.(412-414)ttC>ttT	p.F138F		NM_181539	NP_853517	Q7Z3Y9	K1C26_HUMAN	Homo sapiens keratin 26 (KRT26), mRNA.	138	Linker 1.|Rod.					intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(5)	16		Breast(137;0.00526)				CTATGACTGAGAAGTATCTGC	0.413000														72			9		0	0	1	0	0
ABCC10	89845	broad.mit.edu	37	6	43400775	43400775	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:43400775C>A	uc003ouy.1	+	2	1272	c.1057C>A	c.(1057-1059)Ctt>Att	p.L353I	ABCC10_uc003ouz.1_Missense_Mutation_p.L310I|ABCC10_uc010jyo.1_5'Flank	NM_001198934	NP_001185863	Q5T3U5	MRP7_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 10 (ABCC10), transcript variant MRP7, mRNA.	353	ABC transmembrane type-1 1.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.A352P(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			TAAGGTAACACTTCAGGCACG	0.592000														45			20		1.87028e-06	2.11959e-06	1	1	0
LRAT	9227	broad.mit.edu	37	4	155665697	155665697	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:155665697G>A	uc003iom.1	+	0	546	c.219G>A	c.(217-219)atG>atA	p.M73I	DQ266889_uc003iol.3_Intron|LRAT_uc003ion.1_Missense_Mutation_p.M73I	NM_004744	NP_004735	O95237	LRAT_HUMAN	Homo sapiens lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase) (LRAT), mRNA.	73					response to stimulus|retinoid metabolic process|steroid metabolic process|visual perception	endoplasmic reticulum membrane|integral to membrane|multivesicular body|perinuclear region of cytoplasm|rough endoplasmic reticulum	phosphatidylcholine-retinol O-acyltransferase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)	16	all_hematologic(180;0.215)	Renal(120;0.0458)			Vitamin A(DB00162)	TTGCCCACATGATGCCCGACA	0.587000														42			4		0	0	1	0	0
ATM	472	broad.mit.edu	37	11	108163493	108163493	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:108163493G>A	uc001pkb.1	+	29	4969	c.4584G>A	c.(4582-4584)gtG>gtA	p.V1528V	ATM_uc009yxr.1_Silent_p.V1528V|ATM_uc001pke.2_Silent_p.V180V|ATM_uc001pkf.3_Intron	NM_000051	NP_000042	Q13315	ATM_HUMAN	Homo sapiens ataxia telangiectasia mutated (ATM), mRNA.	1528					DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2/M transition DNA damage checkpoint|cell cycle arrest|cellular response to gamma radiation|double-strand break repair via homologous recombination|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein N-terminus binding|protein complex binding|protein dimerization activity			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		TACCCCTTGTGTATGAGCAGG	0.358000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)				105			59		0	0	1	0	0
TFDP3	51270	broad.mit.edu	37	X	132351787	132351787	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:132351787G>T	uc004exb.1	-	0	590	c.501C>A	c.(499-501)gcC>gcA	p.A167A		NM_016521	NP_057605	Q5H9I0	TFDP3_HUMAN	Homo sapiens transcription factor Dp family, member 3 (TFDP3), mRNA.	167						transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(1)|lung(8)|ovary(1)|prostate(2)	19	Acute lymphoblastic leukemia(192;0.000127)					GCACGTTTAAGGCATCGTAGG	0.502000														45			24		2.32416e-17	2.96135e-17	1	1	0
NR1D2	9975	broad.mit.edu	37	3	24006638	24006638	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:24006638G>T	uc003ccs.2	+	5	1636	c.1317G>T	c.(1315-1317)aaG>aaT	p.K439N	NR1D2_uc010hfd.2_Non-coding_Transcript|NR1D2_uc011awk.1_Missense_Mutation_p.K364N	NM_005126	NP_001138897	Q14995	NR1D2_HUMAN	Homo sapiens nuclear receptor subfamily 1, group D, member 2 (NR1D2), transcript variant 1, mRNA.	439					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			NS(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	22						ACCTTTTAAAGGCTGGGACTT	0.388000														133			13		6.31663e-08	7.34157e-08	1	1	0
SYNE1	23345	broad.mit.edu	37	6	152728208	152728208	+	Nonsense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:152728208C>A	uc021zhb.1	-	42	6887	c.6664G>T	c.(6664-6666)Gaa>Taa	p.E2222*	SYNE1_uc003qot.4_Nonsense_Mutation_p.E2229*|SYNE1_uc003qou.4_Nonsense_Mutation_p.E2222*|SYNE1_uc010kjb.1_Nonsense_Mutation_p.E2205*	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	2222					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	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)		CTGATGTTTTCTGCCATCTGT	0.443000										HNSCC(10;0.0054)				68			6		0.0215528	0.0220531	1	1	0
ARHGAP10	79658	broad.mit.edu	37	4	148886181	148886181	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:148886181G>A	uc003ilf.3	+	16	1457	c.1457G>A	c.(1456-1458)gGc>gAc	p.G486D	ARHGAP10_uc003ilg.3_Missense_Mutation_p.G135D|ARHGAP10_uc003ilh.3_Missense_Mutation_p.G67D	NM_024605	NP_078881	A1A4S6	RHG10_HUMAN	Homo sapiens Rho GTPase activating protein 10 (ARHGAP10), mRNA.	486	Rho-GAP.				apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm|plasma membrane	SH3 domain binding|cytoskeletal adaptor activity			autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33	all_hematologic(180;0.151)	Renal(17;0.0166)		GBM - Glioblastoma multiforme(119;0.0423)		GAAGAAAGCGGCAGCCCAGAA	0.308000														43			6		0	0	1	0	0
ACSBG1	23205	broad.mit.edu	37	15	78474911	78474911	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:78474911A>G	uc002bdh.3	-	6	997	c.791T>C	c.(790-792)cTg>cCg	p.L264P	ACSBG1_uc010umx.2_Missense_Mutation_p.L22P|ACSBG1_uc010umw.2_Missense_Mutation_p.L260P|ACSBG1_uc010umy.2_Missense_Mutation_p.L157P	NM_015162	NP_055977	Q96GR2	ACBG1_HUMAN	Homo sapiens acyl-CoA synthetase bubblegum family member 1 (ACSBG1), transcript variant 1, mRNA.	264					long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process	cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome	ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity			endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						GATGGCGTCCAGGGCTTCCTC	0.587000														32			4		0	0	1	0	0
TULP4	56995	broad.mit.edu	37	6	158923412	158923412	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:158923412G>A	uc003qrf.3	+	12	4074	c.2717G>A	c.(2716-2718)cGg>cAg	p.R906Q	TULP4_uc003qrg.3_Intron	NM_020245	NP_064630	Q9NRJ4	TULP4_HUMAN	Homo sapiens tubby like protein 4 (TULP4), transcript variant 1, mRNA.	906					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		CCCCGCACCCGGATGCTGTGC	0.652000														36			30		0	0	1	0	0
ARHGAP20	57569	broad.mit.edu	37	11	110450366	110450366	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:110450366A>G	uc001pkz.1	-	15	3589	c.3304T>C	c.(3304-3306)Tcc>Ccc	p.S1102P	ARHGAP20_uc001pky.1_Missense_Mutation_p.S1079P|ARHGAP20_uc009yyb.1_Missense_Mutation_p.S1066P|ARHGAP20_uc001pla.1_Missense_Mutation_p.S1066P|ARHGAP20_uc001plb.2_Missense_Mutation_p.S645P	NM_020809	NP_065860	Q9P2F6	RHG20_HUMAN	Homo sapiens Rho GTPase activating protein 20 (ARHGAP20), mRNA.	1102					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		TGCACAGGGGACAGTCCTTCA	0.532000														51			27		0	0	1	0	0
USHBP1	83878	broad.mit.edu	37	19	17373578	17373578	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:17373578C>A	uc002nfs.1	-	3	538	c.425G>T	c.(424-426)aGc>aTc	p.S142I	USHBP1_uc002nft.1_Non-coding_Transcript|USHBP1_uc010xpk.1_Missense_Mutation_p.S78I|USHBP1_uc010eam.1_Missense_Mutation_p.S70I	NM_031941	NP_114147	Q8N6Y0	USBP1_HUMAN	Homo sapiens Usher syndrome 1C binding protein 1 (USHBP1), mRNA.	142							PDZ domain binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						CCCAGAATGGCTGGGGGGCTG	0.677000														68			5		0.0381472	0.0388409	1	1	0
MED12	9968	broad.mit.edu	37	X	70347223	70347223	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:70347223G>A	uc004dyy.3	+	20	3086	c.2887G>A	c.(2887-2889)Gat>Aat	p.D963N	MED12_uc011mpq.1_Missense_Mutation_p.D963N|MED12_uc004dyz.3_Missense_Mutation_p.D963N|MED12_uc004dza.3_Missense_Mutation_p.D810N|MED12_uc010nla.3_5'Flank	NM_005120	NP_005111	Q93074	MED12_HUMAN	Homo sapiens mediator complex subunit 12 (MED12), mRNA.	963					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					GAACCGGTCCGATGGCTCCTC	0.512000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome							21			16		0	0	1	0	0
ZBTB7C	201501	broad.mit.edu	37	18	45566687	45566687	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:45566687G>A	uc010dnv.3	-	2	1294	c.858C>T	c.(856-858)ttC>ttT	p.F286F	ZBTB7C_uc002ldb.3_Silent_p.F264F|ZBTB7C_uc010dnu.3_Silent_p.F273F|ZBTB7C_uc010dnw.3_Silent_p.F264F|ZBTB7C_uc010dnx.1_Silent_p.F264F|ZBTB7C_uc010dny.1_Silent_p.F264F|ZBTB7C_uc010dnz.1_Silent_p.F286F|ZBTB7C_uc010doi.1_Silent_p.F264F|ZBTB7C_uc010doj.1_Silent_p.F273F|ZBTB7C_uc010dok.1_Silent_p.F313F|ZBTB7C_uc010dol.1_Silent_p.F273F|ZBTB7C_uc010doa.1_Silent_p.F286F|ZBTB7C_uc010dob.1_Silent_p.F264F|ZBTB7C_uc010doc.1_Silent_p.F273F|ZBTB7C_uc010dod.1_Silent_p.F286F|ZBTB7C_uc010doe.1_Silent_p.F264F|ZBTB7C_uc010dof.1_Silent_p.F264F|ZBTB7C_uc010dog.1_Silent_p.F264F|ZBTB7C_uc010doh.1_Silent_p.F273F|ZBTB7C_uc010dom.1_Silent_p.F273F|ZBTB7C_uc010don.1_Silent_p.F272F|ZBTB7C_uc010dop.1_Silent_p.F264F|ZBTB7C_uc010doq.1_Silent_p.F273F|ZBTB7C_uc010dor.1_Silent_p.F286F|ZBTB7C_uc010dos.1_Silent_p.F264F|ZBTB7C_uc010dot.1_Silent_p.F264F|ZBTB7C_uc010doo.1_Silent_p.F264F|ZBTB7C_uc010dou.1_Silent_p.F273F	NM_001039360	NP_001034449	A1YPR0	ZBT7C_HUMAN	Homo sapiens zinc finger and BTB domain containing 7C (ZBTB7C), mRNA.	264						intracellular	nucleic acid binding|zinc ion binding			endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						CAAAGGCACCGAAGTCCCCTG	0.592000														31			11		0	0	1	0	0
ELN	2006	broad.mit.edu	37	7	73456972	73456972	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:73456972T>C	uc003tzw.3	+	5	352	c.261T>C	c.(259-261)ttT>ttC	p.F87F	ELN_uc003tzm.1_Non-coding_Transcript|ELN_uc003tzn.3_Silent_p.F87F|ELN_uc003tzy.3_Silent_p.F77F|ELN_uc003tzz.3_Silent_p.F75F|ELN_uc003tzo.3_Silent_p.F87F|ELN_uc003tzp.3_Silent_p.F77F|ELN_uc003tzq.3_Intron|ELN_uc003tzr.3_Non-coding_Transcript|ELN_uc003tzs.3_Silent_p.F87F|ELN_uc003tzt.3_Silent_p.F87F|ELN_uc003tzu.3_Silent_p.F87F|ELN_uc003tzv.3_Silent_p.F77F|ELN_uc011kfe.2_Intron|ELN_uc003tzx.3_Silent_p.F77F|ELN_uc011kff.2_Silent_p.F87F	NM_000501	NP_001075224	P15502	ELN_HUMAN	Homo sapiens elastin (ELN), transcript variant 1, mRNA.	87					blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)			Rofecoxib(DB00533)	CAGTTACCTTTCCGGGGGCTC	0.627000			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""							98			7		0	0	1	0	0
SMARCC1	6599	broad.mit.edu	37	3	47703916	47703916	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:47703916C>T	uc003crq.2	-	19	2184	c.2066G>A	c.(2065-2067)aGt>aAt	p.S689N	SMARCC1_uc011bbc.1_Non-coding_Transcript|SMARCC1_uc011bbd.1_Missense_Mutation_p.S580N	NM_003074	NP_003065	Q92922	SMRC1_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1 (SMARCC1), mRNA.	689					chromatin remodeling|nervous system development|transcription, DNA-dependent	SWI/SNF complex|WINAC complex|nBAF complex|npBAF complex|nucleoplasm	DNA binding|protein N-terminus binding|transcription coactivator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		TCCTGACTGACTGAAGGGGAC	0.512000														28			11		0	0	1	0	0
ZXDC	79364	broad.mit.edu	37	3	126178581	126178581	+	Splice_Site	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:126178581C>A	uc003eiv.3	-	7	2182	c.2128_splice	c.e7-1	p.E710_splice	ZXDC_uc010hsh.3_Intron|ZXDC_uc003eix.2_3'UTR	NM_025112	NP_079388	Q2QGD7	ZXDC_HUMAN	Homo sapiens ZXD family zinc finger C (ZXDC), transcript variant 1, mRNA.	710					positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|LRR domain binding|identical protein 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)		CCCCACTTTCCTGAGACCAAA	0.507000														226			27		2.70662e-09	3.21914e-09	1	1	0
F9	2158	broad.mit.edu	37	X	138630556	138630556	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:138630556G>T	uc004fas.1	+	4	455	c.426G>T	c.(424-426)gaG>gaT	p.E142D	F9_uc004fat.1_Missense_Mutation_p.E104D	NM_000133	NP_000124	P00740	FA9_HUMAN	Homo sapiens coagulation factor IX (F9), mRNA.	142	EGF-like 2.				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	Golgi lumen|endoplasmic reticulum lumen|extracellular region|plasma membrane	calcium ion binding|serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)	GCAGATGCGAGCAGTTTTGTA	0.378000														92			9		0.000274275	0.000294507	1	1	0
CPEB3	22849	broad.mit.edu	37	10	93999628	93999628	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:93999628G>T	uc001khw.2	-	1	684	c.480C>A	c.(478-480)acC>acA	p.T160T	CPEB3_uc001khu.2_Silent_p.T160T|CPEB3_uc001khv.2_Silent_p.T160T|CPEB3_uc010qnn.2_Silent_p.T160T	NM_014912	NP_055727	Q8NE35	CPEB3_HUMAN	Homo sapiens cytoplasmic polyadenylation element binding protein 3 (CPEB3), transcript variant 1, mRNA.	160	Pro-rich.						RNA binding|nucleotide binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0869)				GGTGGTGCTGGGTCTGCGCCA	0.711000														10			6		0.000157383	0.000170012	1	1	0
ASTL	431705	broad.mit.edu	37	2	96798360	96798360	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:96798360G>A	uc010yui.2	-	5	556	c.556C>T	c.(556-558)Cat>Tat	p.H186Y		NM_001002036	NP_001002036	Q6HA08	ASTL_HUMAN	Homo sapiens astacin-like metallo-endopeptidase (M12 family) (ASTL), mRNA.	186					proteolysis		metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						CCCAGCACATGCATGAGCTCA	0.642000														99			13		0	0	1	0	0
PPL	5493	broad.mit.edu	37	16	4933512	4933512	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:4933512G>T	uc002cyd.1	-	21	5234	c.5144C>A	c.(5143-5145)tCt>tAt	p.S1715Y		NM_002705	NP_002696	O60437	PEPL_HUMAN	Homo sapiens periplakin (PPL), mRNA.	1715					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						CTTCTTGCCAGACTTCCTGTC	0.542000														28			23		3.6726e-16	4.64609e-16	1	1	0
GOT1L1	137362	broad.mit.edu	37	8	37793302	37793302	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:37793302C>A	uc011lbj.1	-	6	949	c.849G>T	c.(847-849)caG>caT	p.Q283H		NM_152413	NP_689626	Q8NHS2	AATC2_HUMAN	Homo sapiens glutamic-oxaloacetic transaminase 1-like 1 (GOT1L1), mRNA.	283					biosynthetic process|cellular amino acid metabolic process	cytoplasm	pyridoxal phosphate binding|transaminase activity			central_nervous_system(1)|endometrium(3)|lung(8)|ovary(1)|prostate(1)	14	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;1.37e-11)			GCCACAGGGCCTGGGCTAATC	0.592000														40			6		0.00116845	0.00123466	1	1	0
TNFAIP1	7126	broad.mit.edu	37	17	26668285	26668285	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:26668285C>A	uc002hax.2	+	3	417	c.398C>A	c.(397-399)cCt>cAt	p.P133H	TNFAIP1_uc002hay.3_Missense_Mutation_p.P133H|TNFAIP1_uc010waf.2_Missense_Mutation_p.P29H	NM_021137	NP_066960	Q13829	BACD2_HUMAN	Homo sapiens tumor necrosis factor, alpha-induced protein 1 (endothelial) (TNFAIP1), mRNA.	133					DNA replication|apoptosis|cell migration|embryo development|immune response|negative regulation of Rho protein signal transduction|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|endosome|nucleus|voltage-gated potassium channel complex	GTP-Rho binding|voltage-gated potassium channel activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)	12	all_lung(13;0.000294)|Lung NSC(42;0.000964)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		TCCTACCAGCCTGTGTGCAAC	0.567000														102			9		0.00621372	0.00645399	1	1	0
ZNF234	10780	broad.mit.edu	37	19	44661424	44661424	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:44661424C>A	uc002oym.3	+	5	1562	c.1255C>A	c.(1255-1257)Ctg>Atg	p.L419M	ZNF234_uc002oyl.4_Missense_Mutation_p.L419M	NM_006630	NP_006621	Q14588	ZN234_HUMAN	Homo sapiens zinc finger protein 234 (ZNF234), transcript variant 1, mRNA.	419					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23		Prostate(69;0.0435)				TCAAGTGCATCTGGTAGTCCA	0.418000														22			8		5.18039e-06	5.80246e-06	1	1	0
HMGCS2	3158	broad.mit.edu	37	1	120306897	120306897	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:120306897C>A	uc001eid.3	-	1	545	c.457G>T	c.(457-459)Ggc>Tgc	p.G153C	HMGCS2_uc010oxj.2_Missense_Mutation_p.G153C|HMGCS2_uc021osx.1_Missense_Mutation_p.G61C	NM_005518	NP_005509	P54868	HMCS2_HUMAN	Homo sapiens 3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial) (HMGCS2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	153					acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA synthase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)		TCAGTATTGCCTGAATCCTGG	0.517000														57			11		4.68919e-08	5.46558e-08	1	1	0
FAM123B	139285	broad.mit.edu	37	X	63410256	63410256	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:63410256C>T	uc022byb.1	-	0	2911	c.2911G>A	c.(2911-2913)Ggt>Agt	p.G971S	FAM123B_uc004dvo.3_Missense_Mutation_p.G971S	NM_152424	NP_689637	Q5JTC6	F123B_HUMAN	Homo sapiens family with sequence similarity 123B (FAM123B), mRNA.	971	Pro-rich.				Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane		p.0?(67)		NS(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(132)|large_intestine(35)|liver(1)|lung(33)|ovary(5)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	225						CAGGCAGGACCTGGCCCCACT	0.567000														12			6		0	0	1	0	0
ZBTB38	253461	broad.mit.edu	37	3	141163946	141163946	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:141163946G>A	uc010hup.3	+	1	2766	c.2719G>A	c.(2719-2721)Gca>Aca	p.A907T	ZBTB38_uc003etw.3_Missense_Mutation_p.A906T|ZBTB38_uc010hun.3_Missense_Mutation_p.A903T|ZBTB38_uc010huo.3_Missense_Mutation_p.A906T|ZBTB38_uc003ety.3_Missense_Mutation_p.A906T|ZBTB38_uc021xes.1_Missense_Mutation_p.A906T	NM_001080412	NP_001073881	Q8NAP3	ZBT38_HUMAN	Homo sapiens zinc finger and BTB domain containing 38 (ZBTB38), mRNA.	906					positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						GTTCGATGACGCAAGTGACCA	0.502000														28			16		0	0	1	0	0
LAMC1	3915	broad.mit.edu	37	1	183072602	183072602	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:183072602C>T	uc001gpy.4	+	1	815	c.558C>T	c.(556-558)taC>taT	p.Y186Y	LAMC1_uc001gpx.3_Silent_p.Y186Y	NM_002293	NP_002284	P11047	LAMC1_HUMAN	Homo sapiens laminin, gamma 1 (formerly LAMB2) (LAMC1), mRNA.	186	Laminin N-terminal.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGAACACCTACTCCAAGGCAA	0.567000														84			7		0	0	1	0	0
RBMXL1	494115	broad.mit.edu	37	1	89448867	89448867	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:89448867A>G	uc021opo.1	-	0	643	c.643T>C	c.(643-645)Tct>Cct	p.S215P	CCBL2_uc001dmp.2_Intron|CCBL2_uc001dmq.2_Intron|CCBL2_uc001dmr.2_Intron|RBMXL1_uc009wcx.3_Missense_Mutation_p.S215P|RBMXL1_uc001dms.3_Missense_Mutation_p.S215P	NM_019610	NP_062556	Q96E39	RBMXL_HUMAN	Homo sapiens RNA binding motif protein, X-linked-like 1 (RBMXL1), transcript variant 2, mRNA.	215							RNA binding|nucleotide binding										TCTTTAGTAGAATACCCATCA	0.448000														86			122		0	0	1	0	0
TRAPPC4	51399	broad.mit.edu	37	11	118889524	118889524	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:118889524T>C	uc010ryo.2	+	0	284	c.19T>C	c.(19-21)Tat>Cat	p.Y7H	RPS25_uc001pun.2_5'Flank|TRAPPC4_uc010ryn.2_Missense_Mutation_p.Y7H|TRAPPC4_uc010ryp.2_Missense_Mutation_p.Y7H|TRAPPC4_uc010ryq.2_Missense_Mutation_p.Y7H|TRAPPC4_uc021qri.1_5'Flank	NM_016146	NP_057230	Q9Y296	TPPC4_HUMAN	Homo sapiens trafficking protein particle complex 4 (TRAPPC4), mRNA.	7					ER to Golgi vesicle-mediated transport|dendrite development	Golgi stack|cis-Golgi network|dendrite|endoplasmic reticulum|synaptic vesicle	protein binding			NS(1)|endometrium(1)|large_intestine(2)|lung(1)	5	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_neural(223;0.224)|all_hematologic(192;0.243)		BRCA - Breast invasive adenocarcinoma(274;7.58e-05)		TTTTAGTGTGTATGTGGTGAA	0.572000														148			9		0	0	1	0	0
TPI1	7167	broad.mit.edu	37	12	6978315	6978315	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:6978315G>A	uc001qrk.3	+	2	439	c.403G>A	c.(403-405)Gag>Aag	p.E135K	TPI1_uc010sfo.2_Missense_Mutation_p.E16K	NM_000365	NP_000356	P60174	TPIS_HUMAN	Homo sapiens triosephosphate isomerase 1 (TPI1), transcript variant 1, mRNA.	98					fatty acid biosynthetic process|gluconeogenesis|glycolysis|pentose-phosphate shunt	cytosol	triose-phosphate isomerase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(11)|prostate(1)|skin(2)	19						GGGGCACTCAGAGAGAAGGCA	0.522000											OREG0021638	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		107			88		0	0	1	0	0
SLC39A5	283375	broad.mit.edu	37	12	56631045	56631045	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56631045G>T	uc010sqj.2	+	11	1657	c.1400G>T	c.(1399-1401)aGc>aTc	p.S467I	SLC39A5_uc010sqk.2_Missense_Mutation_p.S467I	NM_173596	NP_775867	Q6ZMH5	S39A5_HUMAN	Homo sapiens solute carrier family 39 (metal ion transporter), member 5 (SLC39A5), transcript variant 1, mRNA.	467					zinc ion transport	basolateral plasma membrane|integral to membrane	metal ion transmembrane transporter activity			NS(1)|cervix(6)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GTGGGGCTCAGCCTGGGCCCT	0.647000														27			16		9.16793e-09	1.08001e-08	1	1	0
MAP2	4133	broad.mit.edu	37	2	210558266	210558266	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:210558266A>C	uc002vde.1	+	6	1620	c.1372A>C	c.(1372-1374)Aaa>Caa	p.K458Q	MAP2_uc002vdc.1_Missense_Mutation_p.K458Q|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Missense_Mutation_p.K454Q	NM_002374	NP_002365	P11137	MAP2_HUMAN	Homo sapiens microtubule-associated protein 2 (MAP2), transcript variant 1, mRNA.	458					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	AGCTGTGCCAAAAGAGAGTAA	0.438000														50			7		0	0	1	0	0
GSTT1	2952	broad.mit.edu	37	22	24376858	24376858	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:24376858G>A	uc002zze.4	-	3	545	c.492C>T	c.(490-492)tcC>tcT	p.S164S	GSTT1_uc010gug.3_Non-coding_Transcript|GSTT1_uc011ajl.2_Silent_p.S46S|GSTT1_uc010guh.3_Intron	NM_000853	NP_000844	P30711	GSTT1_HUMAN	Homo sapiens glutathione S-transferase theta 1 (GSTT1), mRNA.	164	GST C-terminal.				glutathione metabolic process	cytosol|soluble fraction	glutathione peroxidase activity|glutathione transferase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|ovary(1)|prostate(1)|skin(1)	6					Glutathione(DB00143)	GGTCAGCTAAGGAGATGTGAG	0.577000									Myelodysplasia and Acute Myeloid Leukemia (AML), Familial					3			16		0	0	1	0	0
MLL	4297	broad.mit.edu	37	11	118342984	118342984	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:118342984C>A	uc001pta.3	+	2	1133	c.1110C>A	c.(1108-1110)acC>acA	p.T370T	MLL_uc001ptb.3_Silent_p.T370T|MLL_uc001psz.1_Silent_p.T403T|MLL_uc001ptd.1_Intron	NM_005933	NP_005924	Q03164	MLL1_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) (MLL), transcript variant 2, mRNA.	370					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			breast(5)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(29)|lung(34)|ovary(6)|pancreas(3)|prostate(8)|skin(6)|urinary_tract(19)	131	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		CAGATGCAACCATTGCTAAGC	0.428000			"""T, O"""	"""MLL, MLLT1, MLLT2, MLLT3, MLLT4, MLLT7, MLLT10, MLLT6, ELL, EPS15, AF1Q, CREBBP, SH3GL1, FNBP1, PNUTL1, MSF, GPHN, GMPS, SSH3BP1, ARHGEF12, GAS7, FOXO3A, LAF4, LCX, SEPT6, LPP, CBFA2T1, GRAF, EP300, PICALM, HEAB"""	"""AML, ALL"""									96			7		0.00198382	0.00208369	1	1	0
ERN1	2081	broad.mit.edu	37	17	62144287	62144287	+	Missense_Mutation	SNP	A	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:62144287A>T	uc002jdz.2	-	7	699	c.586T>A	c.(586-588)Tcc>Acc	p.S196T		NM_001433	NP_001424	O75460	ERN1_HUMAN	Homo sapiens endoplasmic reticulum to nucleus signaling 1 (ERN1), mRNA.	196					activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to endoplasmic reticulum membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						ACAAAGTGGGACATCTCTGTA	0.512000														15			6		0	0	1	0	0
ZNF337	26152	broad.mit.edu	37	20	25655668	25655668	+	Nonstop_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:25655668T>C	uc002wva.3	-	3	2778	c.2256A>G	c.(2254-2256)tgA>tgG	p.*752W	ZNF337_uc002wuz.3_Non-coding_Transcript|ZNF337_uc010ztg.2_Nonstop_Mutation_p.*720W|ZNF337_uc002wvc.3_Nonstop_Mutation_p.*752W	NM_015655	NP_056470			Homo sapiens zinc finger protein 337 (ZNF337), mRNA.											breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						AGATATAACTTCAAGATGAAG	0.403000														45			7		0	0	1	0	0
SLC4A8	9498	broad.mit.edu	37	12	51863479	51863479	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:51863479G>T	uc001rys.1	+	11	1609	c.1431G>T	c.(1429-1431)caG>caT	p.Q477H	SLC4A8_uc010sni.2_Missense_Mutation_p.Q424H|SLC4A8_uc001rym.3_Missense_Mutation_p.Q424H|SLC4A8_uc001ryn.3_Missense_Mutation_p.Q424H|SLC4A8_uc001ryo.2_Missense_Mutation_p.Q424H|SLC4A8_uc010snj.2_Missense_Mutation_p.Q504H|SLC4A8_uc001ryq.4_Missense_Mutation_p.Q477H|SLC4A8_uc001ryr.3_Missense_Mutation_p.Q477H|SLC4A8_uc010snk.2_Missense_Mutation_p.Q424H	NM_001039960	NP_001035049	Q2Y0W8	S4A8_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 8 (SLC4A8), transcript variant 1, mRNA.	477					bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		TCAGCTTACAGTGTTTGGCTT	0.542000														90			10		1.11149e-13	1.38511e-13	1	1	0
INTS2	57508	broad.mit.edu	37	17	59955432	59955432	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:59955432C>A	uc002izn.3	-	17	2372	c.2296G>T	c.(2296-2298)Gta>Tta	p.V766L	INTS2_uc002izm.3_Missense_Mutation_p.V758L	NM_020748	NP_065799	Q9H0H0	INT2_HUMAN	Homo sapiens integrator complex subunit 2 (INTS2), transcript variant 1, mRNA.	766					snRNA processing	integral to membrane|integrator complex|nuclear membrane	protein binding			NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						GTGTTATTTACTGGGACAGCT	0.363000														40			17		4.7546e-09	5.62729e-09	1	1	0
AOAH	313	broad.mit.edu	37	7	36713578	36713578	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:36713578A>G	uc022abu.1	-	2	661	c.260T>C	c.(259-261)aTt>aCt	p.I87T	AOAH_uc003tfh.4_Missense_Mutation_p.I87T|AOAH_uc011kba.2_Missense_Mutation_p.I55T	NM_001177506	NP_001170977	P28039	AOAH_HUMAN	Homo sapiens acyloxyacyl hydrolase (neutrophil) (AOAH), transcript variant 2, mRNA.	87	Saposin B-type.				inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						AAACTTGTCAATGACTAAATA	0.348000														59			7		0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38662422	38662422	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:38662422T>C	uc021wvo.1	-	3	575	c.523A>G	c.(523-525)Aag>Gag	p.K175E	SCN5A_uc021wvk.1_Missense_Mutation_p.K175E|SCN5A_uc021wvl.1_Missense_Mutation_p.K175E|SCN5A_uc021wvm.1_Missense_Mutation_p.K175E|SCN5A_uc021wvn.1_Missense_Mutation_p.K175E|SCN5A_uc021wvp.1_Missense_Mutation_p.K175E|SCN5A_uc021wvq.1_Missense_Mutation_p.K175E|SCN5A_uc021wvr.1_Missense_Mutation_p.K175E|SCN5A_uc021wvs.1_Missense_Mutation_p.K175E|SCN5A_uc021wvt.1_Missense_Mutation_p.K175E|SCN5A_uc021wvu.1_Missense_Mutation_p.K175E|SCN5A_uc021wvv.1_Missense_Mutation_p.K175E|SCN5A_uc021wvj.1_Missense_Mutation_p.K41E|SCN5A_uc021wvi.1_Missense_Mutation_p.K41E|SCN5A_uc010hhl.1_Intron	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	175					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	GCCAGAATCTTGACCAGAGAC	0.552000														28			3		0	0	1	0	0
BLVRA	644	broad.mit.edu	37	7	43846772	43846772	+	Missense_Mutation	SNP	C	T	T	rs138692014	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:43846772C>T	uc010kxv.3	+	8	1006	c.829C>T	c.(829-831)Cgc>Tgc	p.R277C	BLVRA_uc003tir.3_Missense_Mutation_p.R277C	NM_001253823	NP_001240752	P53004	BIEA_HUMAN	Homo sapiens biliverdin reductase A (BLVRA), transcript variant 2, mRNA.	277					heme catabolic process	cytosol	biliverdin reductase activity|zinc ion binding			endometrium(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(2)	12					NADH(DB00157)	TGAAAAGAAACGCATCCTGCA	0.438000														55			20		0	0	1	0	0
SIGLEC8	27181	broad.mit.edu	37	19	51958909	51958909	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:51958909A>C	uc002pwt.3	-	3	881	c.814T>G	c.(814-816)Tca>Gca	p.S272A	SIGLEC8_uc010yda.2_Missense_Mutation_p.S163A|SIGLEC8_uc002pwu.3_Non-coding_Transcript|SIGLEC8_uc010eox.2_Missense_Mutation_p.S179A	NM_014442	NP_055257	Q9NYZ4	SIGL8_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 8 (SIGLEC8), mRNA.	272	Ig-like C2-type 2.				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		TCAAGGACTGAAAGAGATGAG	0.562000														41			4		0	0	1	0	0
LRFN5	145581	broad.mit.edu	37	14	42356285	42356285	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:42356285G>A	uc001wvm.3	+	2	1655	c.457G>A	c.(457-459)Gat>Aat	p.D153N	LRFN5_uc010ana.3_Missense_Mutation_p.D153N	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 5 (LRFN5), mRNA.	153						integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		TGAGGAGCTGGATCTGTCCTA	0.393000										HNSCC(30;0.082)				51			9		0	0	1	0	0
PCDHB5	26167	broad.mit.edu	37	5	140515416	140515416	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140515416C>T	uc003liq.3	+	0	617	c.400C>T	c.(400-402)Cca>Tca	p.P134S		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	Homo sapiens protocadherin beta 5 (PCDHB5), mRNA.	134					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCAGAGTTCCCAGAGAAGGA	0.443000														44			22		0	0	1	0	0
PRMT6	55170	broad.mit.edu	37	1	107599821	107599821	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:107599821C>A	uc010ous.2	+	0	555	c.484C>A	c.(484-486)Ctg>Atg	p.L162M		NM_018137	NP_060607	Q96LA8	ANM6_HUMAN	Homo sapiens protein arginine methyltransferase 6 (PRMT6), mRNA.	162					base-excision repair|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone binding|histone methyltransferase activity (H2A-R3 specific)|histone methyltransferase activity (H3-R2 specific)|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity			biliary_tract(1)|breast(2)|kidney(1)|large_intestine(4)|lung(5)|urinary_tract(1)	14		all_epithelial(167;0.000429)|all_lung(203;0.00122)|Lung NSC(277;0.00185)		Lung(183;0.0305)|Epithelial(280;0.0765)|Colorectal(144;0.0998)|all cancers(265;0.14)|LUSC - Lung squamous cell carcinoma(189;0.173)|BRCA - Breast invasive adenocarcinoma(282;0.242)		CTACGGACTCCTGCACGAGTC	0.652000														65			23		6.44725e-10	7.73661e-10	1	1	0
CLEC10A	10462	broad.mit.edu	37	17	6978460	6978460	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:6978460G>A	uc002gek.3	-	8	1167	c.864C>T	c.(862-864)gaC>gaT	p.D288D	CLEC10A_uc002gej.3_Silent_p.D264D|CLEC10A_uc010clv.2_3'UTR	NM_182906	NP_878910	Q8IUN9	CLC10_HUMAN	Homo sapiens C-type lectin domain family 10, member A (CLEC10A), transcript variant 1, mRNA.	288	C-type lectin.				endocytosis|innate immune response	integral to membrane|plasma membrane	sugar binding			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10						TCCACCTGCCGTCTGGATGGA	0.627000														30			20		0	0	1	0	0
HIRA	7290	broad.mit.edu	37	22	19365463	19365463	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:19365463G>T	uc002zpf.1	-	13	1762	c.1542C>A	c.(1540-1542)gcC>gcA	p.A514A	HIRA_uc011agx.1_Silent_p.A380A|HIRA_uc010grn.1_Silent_p.A514A|HIRA_uc010gro.2_Silent_p.A470A|HIRA_uc010grp.3_Non-coding_Transcript	NM_003325	NP_003316	P54198	HIRA_HUMAN	Homo sapiens HIR histone cell cycle regulation defective homolog A (S. cerevisiae) (HIRA), mRNA.	514	Interaction with CCNA1.				chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					AAGGCTTCGAGGCGCCGAAGG	0.597000														103			8		0.27861	0.27975	1	1	0
PTPRZ1	5803	broad.mit.edu	37	7	121698887	121698887	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:121698887T>C	uc003vjy.3	+	27	6957	c.6562T>C	c.(6562-6564)Tgt>Cgt	p.C2188R	PTPRZ1_uc011knt.2_Missense_Mutation_p.C1328R|PTPRZ1_uc003vjz.3_Missense_Mutation_p.C1321R	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor-type, Z polypeptide 1 (PTPRZ1), transcript variant 1, mRNA.	2188	Tyrosine-protein phosphatase 2.				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						GCACTTTCAGTGTCCTAAATG	0.368000														85			9		0	0	1	0	0
UTP6	55813	broad.mit.edu	37	17	30202297	30202297	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:30202297T>C	uc002hgr.3	-	13	1344	c.1261A>G	c.(1261-1263)Ata>Gta	p.I421V	UTP6_uc002hgq.3_Missense_Mutation_p.I237V	NM_018428	NP_060898	Q9NYH9	UTP6_HUMAN	Homo sapiens UTP6, small subunit (SSU) processome component, homolog (yeast) (UTP6), mRNA.	421					rRNA processing	nucleolus	binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)	21		all_hematologic(16;0.0149)|Ovarian(249;0.021)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|Breast(31;0.231)				AGCATGGCTATGTCAGGGCTC	0.463000														70			31		0	0	1	0	0
COBRA1	25920	broad.mit.edu	37	9	140161738	140161738	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:140161738G>A	uc004cmm.4	+	9	1488	c.1285G>A	c.(1285-1287)Gtc>Atc	p.V429I		NM_015456	NP_056271	Q8WX92	NELFB_HUMAN	Homo sapiens cofactor of BRCA1 (COBRA1), mRNA.	429					negative regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleoplasm	protein binding			endometrium(2)|large_intestine(5)|lung(5)|skin(3)|upper_aerodigestive_tract(1)	16	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.137)	OV - Ovarian serous cystadenocarcinoma(145;9.42e-05)|Epithelial(140;0.000766)		GCTGTACTACGTCCTGCACAT	0.677000														13			11		0	0	1	0	0
TSSK2	23617	broad.mit.edu	37	22	19119140	19119140	+	Silent	SNP	C	T	T	rs150544486		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:19119140C>T	uc002zow.2	+	0	820	c.228C>T	c.(226-228)taC>taT	p.Y76Y	DGCR14_uc002zou.3_3'UTR	NM_053006	NP_443732	Q96PF2	TSSK2_HUMAN	Homo sapiens testis-specific serine kinase 2 (TSSK2), mRNA.	76	Protein kinase.				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(2)|lung(2)|prostate(4)|stomach(1)	11	Colorectal(54;0.0993)					TCAAGACTTACGAGATCTTTG	0.537000														31			4		0	0	1	0	0
KIAA2018	205717	broad.mit.edu	37	3	113379797	113379797	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:113379797G>A	uc003eam.3	-	6	1143	c.732C>T	c.(730-732)agC>agT	p.S244S	KIAA2018_uc003eal.3_Silent_p.S188S	NM_001009899	NP_001009899	Q68DE3	K2018_HUMAN	Homo sapiens KIAA2018 (KIAA2018), mRNA.	244					regulation of transcription, DNA-dependent	membrane|nucleus	DNA binding|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						CATTTGATTCGCTTTCAGAGG	0.473000														20			18		0	0	1	0	0
OR8G2	26492	broad.mit.edu	37	11	124096012	124096012	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:124096012C>A	uc010saf.2	+	0	615	c.615C>A	c.(613-615)acC>acA	p.T205T		NM_001007249	NP_001007250	Q8N0Y1	Q8N0Y1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily G, member 2 (OR8G2), mRNA.	205						integral to membrane	olfactory receptor activity						Breast(109;0.0157)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.91e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		GCTCCAGCACCTACATCAATG	0.433000														175			13		1.36491e-13	1.70018e-13	1	1	0
ZNF155	7711	broad.mit.edu	37	19	44495784	44495784	+	Nonsense_Mutation	SNP	C	T	T	rs141510834	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:44495784C>T	uc010xwt.1	+	3	317	c.133C>T	c.(133-135)Cga>Tga	p.R45*	ZNF155_uc002oxy.1_Nonsense_Mutation_p.R34*|ZNF155_uc002oxz.1_Nonsense_Mutation_p.R34*	NM_198089	NP_932355	Q12901	ZN155_HUMAN	Homo sapiens zinc finger protein 155 (ZNF155), transcript variant 2, mRNA.	34	KRAB.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	15		Prostate(69;0.0352)				GAAGCTGTACCGAGATGTGAT	0.542000														93			46		0	0	1	0	0
ADCY10	55811	broad.mit.edu	37	1	167847744	167847744	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:167847744A>C	uc001ger.3	-	11	1644	c.1346T>G	c.(1345-1347)gTt>gGt	p.V449G	ADCY10_uc010plj.2_Missense_Mutation_p.V296G|ADCY10_uc009wvk.3_Missense_Mutation_p.V357G|ADCY10_uc009wvl.3_Missense_Mutation_p.V448G	NM_018417	NP_001161221	Q96PN6	ADCYA_HUMAN	Homo sapiens adenylate cyclase 10 (soluble) (ADCY10), transcript variant 1, mRNA.	449					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	ATP binding|adenylate cyclase activity|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						ACCTTTCATAACTTTCTTTGG	0.408000														56			42		0	0	1	0	0
KRTAP4-7	100132476	broad.mit.edu	37	17	39240601	39240601	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:39240601G>T	uc010wfn.2	+	0	143	c.143G>T	c.(142-144)aGc>aTc	p.S48I		NM_033061	NP_149050			Homo sapiens keratin associated protein 4-7 (KRTAP4-7), mRNA.											NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						TGTGTGTCCAGCTGCTGCAGG	0.647000														21			8		3.86212e-05	4.23294e-05	1	1	0
SLC22A14	9389	broad.mit.edu	37	3	38347805	38347805	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:38347805C>A	uc003cib.2	+	0	361	c.288C>A	c.(286-288)ccC>ccA	p.P96P	SLC22A14_uc010hhc.1_Silent_p.P96P|SLC22A14_uc003cia.2_Silent_p.P96P|SLC22A14_uc011ayo.1_Non-coding_Transcript	NM_004803	NP_004794	Q9Y267	S22AE_HUMAN	Homo sapiens solute carrier family 22, member 14 (SLC22A14), mRNA.	96						integral to plasma membrane	organic cation transmembrane transporter activity			central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)		CCCAGAAGCCCTATTGCAATA	0.547000														70			7		0.248553	0.249802	1	1	0
RNF24	11237	broad.mit.edu	37	20	3925866	3925866	+	Splice_Site	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:3925866C>A	uc002wkj.2	-	4	327	c.187_splice	c.e4-1	p.V63_splice	RNF24_uc002wkh.2_Splice_Site_p.V63_splice|RNF24_uc002wki.2_Splice_Site_p.V84_splice	NM_001134337	NP_009150	Q9Y225	RNF24_HUMAN	Homo sapiens ring finger protein 24 (RNF24), transcript variant 2, mRNA.	63						Golgi membrane|integral to membrane	zinc ion binding			large_intestine(1)|upper_aerodigestive_tract(1)	2						TTAATATAACCTGTAAGACAA	0.274000														31			24		2.70639e-06	3.05106e-06	1	1	0
SCN10A	6336	broad.mit.edu	37	3	38793748	38793748	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:38793748G>A	uc003ciq.3	-	10	1717	c.1717C>T	c.(1717-1719)Ccc>Tcc	p.P573S		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	573					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TCACTAGTGGGCGGCGGTTGG	0.597000														46			21		0	0	1	0	0
RPS12	6206	broad.mit.edu	37	6	133138166	133138166	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:133138166G>A	uc003qdx.3	+	4	384	c.302G>A	c.(301-303)cGt>cAt	p.R101H	SNORA33_uc003qdy.1_3'UTR	NM_001016	NP_001007	P25398	RS12_HUMAN	Homo sapiens ribosomal protein S12 (RPS12), mRNA.	101					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	structural constituent of ribosome	p.R101S(1)		endometrium(1)|kidney(13)|lung(3)|urinary_tract(1)	18	Breast(56;0.214)			OV - Ovarian serous cystadenocarcinoma(155;0.00284)|GBM - Glioblastoma multiforme(226;0.0256)		GGGAAACCCCGTAAAGTGGTT	0.373000														38			24		0	0	1	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18691180	18691180	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:18691180A>G	uc001rdt.3	+	23	3407	c.3291A>G	c.(3289-3291)gaA>gaG	p.E1097E	PIK3C2G_uc010sia.2_Non-coding_Transcript|PIK3C2G_uc010sib.2_Silent_p.E1138E|PIK3C2G_uc010sic.2_Silent_p.E916E	NM_004570	NP_004561	O75747	P3C2G_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, gamma polypeptide (PIK3C2G), mRNA.	1097	PI3K/PI4K.				cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				ATTTTGTGGAACTTTGCTGTC	0.383000														30			22		0	0	1	0	0
DNAI2	64446	broad.mit.edu	37	17	72308315	72308315	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:72308315C>A	uc002jkf.3	+	11	1778	c.1668C>A	c.(1666-1668)atC>atA	p.I556I	DNAI2_uc002jkg.3_Silent_p.I544I|DNAI2_uc010dfp.3_Intron|BX648926_uc002jkh.1_5'Flank|DNAI2_uc002jki.3_Non-coding_Transcript	NM_023036	NP_075462	Q9GZS0	DNAI2_HUMAN	Homo sapiens dynein, axonemal, intermediate chain 2 (DNAI2), transcript variant 1, mRNA.	556					cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						TCGACATCATCTTCGCAGAGC	0.627000									Kartagener syndrome					8			7		0.0293803	0.0299714	1	1	0
C15orf44	81556	broad.mit.edu	37	15	65890791	65890791	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:65890791C>A	uc010uix.2	-	5	1112	c.724G>T	c.(724-726)Gat>Tat	p.D242Y	C15orf44_uc002apd.3_Missense_Mutation_p.D206Y|C15orf44_uc010uja.2_Missense_Mutation_p.D189Y|C15orf44_uc010ujb.2_Missense_Mutation_p.D149Y|C15orf44_uc002ape.4_Missense_Mutation_p.D206Y|C15orf44_uc010uiy.2_Missense_Mutation_p.D127Y|C15orf44_uc010uiz.2_Missense_Mutation_p.D170Y			Q96SY0	CO044_HUMAN	Homo sapiens chromosome 15 open reading frame 44 (C15orf44), transcript variant 3, non-coding RNA.	206										breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|urinary_tract(2)	12						TATGCCAAATCTATCAGTTTT	0.378000														45			4		0.00909568	0.00940365	1	1	0
BRWD1	54014	broad.mit.edu	37	21	40670402	40670402	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:40670402G>T	uc002yxk.2	-	4	600	c.305C>A	c.(304-306)tCt>tAt	p.S102Y	BRWD1_uc021wjf.1_Missense_Mutation_p.S102Y|BRWD1_uc002yxm.3_Missense_Mutation_p.S102Y	NM_018963	NP_061836	Q9NSI6	BRWD1_HUMAN	Homo sapiens bromodomain and WD repeat domain containing 1 (BRWD1), transcript variant 1, mRNA.	102					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		p.S102Y(3)		cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				ACCAAGTAAAGAAGTGACTCT	0.388000														165			9		0.0581538	0.0591027	1	1	0
PLEKHM1	9842	broad.mit.edu	37	17	43531380	43531380	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:43531380G>A	uc002ija.3	-	6	2008	c.1838C>T	c.(1837-1839)gCt>gTt	p.A613V	PLEKHM1_uc010wjm.2_Missense_Mutation_p.A585V|PLEKHM1_uc002ijb.3_Missense_Mutation_p.A88V|PLEKHM1_uc010wjn.1_Missense_Mutation_p.A562V|PLEKHM1_uc002ijc.3_Missense_Mutation_p.A67V	NM_014798	NP_055613	Q9Y4G2	PKHM1_HUMAN	Homo sapiens pleckstrin homology domain containing, family M (with RUN domain) member 1 (PLEKHM1), transcript variant 1, mRNA.	613	PH 1.				intracellular signal transduction	cytoplasm	metal ion binding	p.A613T(1)		breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26	Renal(3;0.0405)					CCAGTCCTCAGCTTCGTCCTG	0.642000														22			9		0	0	1	0	0
HPSE2	60495	broad.mit.edu	37	10	100481452	100481452	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:100481452A>G	uc001kpn.2	-	4	991	c.918T>C	c.(916-918)atT>atC	p.I306I	HPSE2_uc009xwc.2_Silent_p.I306I|HPSE2_uc001kpo.2_Silent_p.I248I|HPSE2_uc009xwd.2_Silent_p.I194I	NM_021828	NP_068600	Q8WWQ2	HPSE2_HUMAN	Homo sapiens heparanase 2 (HPSE2), transcript variant 1, mRNA.	306					carbohydrate metabolic process	intracellular|membrane	cation binding|heparanase activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	40				Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)		TCGGCCGCCCAATATTAGGGC	0.438000														32			13		0	0	1	0	0
OR5A1	219982	broad.mit.edu	37	11	59211585	59211585	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:59211585C>A	uc001nnx.1	+	0	944	c.944C>A	c.(943-945)tCt>tAt	p.S315Y		NM_001004728	NP_001004728	Q8NGJ0	OR5A1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily A, member 1 (OR5A1), mRNA.	315					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						AAAGTGTTTTCTTAGGTCATG	0.443000														79			30		1.2476e-16	1.58296e-16	1	1	0
BDKRB1	623	broad.mit.edu	37	14	96730334	96730334	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:96730334C>T	uc021sbj.1	+	0	315	c.315C>T	c.(313-315)ttC>ttT	p.F105F	BDKRB1_uc001yfh.3_Silent_p.F105F	NM_000710	NP_000701	P46663	BKRB1_HUMAN	Homo sapiens bradykinin receptor B1 (BDKRB1), mRNA.	105					elevation of cytosolic calcium ion concentration	endoplasmic reticulum|integral to plasma membrane	bradykinin receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(4)|skin(1)|urinary_tract(1)	16		all_cancers(154;0.0677)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.208)|Epithelial(152;0.226)		ACTGGCCTTTCGGAGCCCTCC	0.557000														39			27		0	0	1	0	0
GPR110	266977	broad.mit.edu	37	6	46976733	46976733	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:46976733T>C	uc003oyt.3	-	10	2637	c.2438A>G	c.(2437-2439)gAc>gGc	p.D813G	GPR110_uc011dwl.2_Missense_Mutation_p.D501G	NM_153840	NP_722582	Q5T601	GP110_HUMAN	Homo sapiens G protein-coupled receptor 110 (GPR110), transcript variant 1, mRNA.	813					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						ATTCTGGCTGTCCACTATTGT	0.473000														31			18		0	0	1	0	0
ITGB6	3694	broad.mit.edu	37	2	160964245	160964245	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:160964245T>C	uc002ubh.2	-	13	2228	c.2213A>G	c.(2212-2214)gAt>gGt	p.D738G	ITGB6_uc010fou.2_Missense_Mutation_p.D738G|ITGB6_uc010zcq.1_Missense_Mutation_p.D696G|ITGB6_uc010fov.1_Missense_Mutation_p.D738G	NM_000888	NP_000879	P18564	ITB6_HUMAN	Homo sapiens integrin, beta 6 (ITGB6), mRNA.	738	Interaction with HAX1.				cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						TTCTTTACGATCATGAAATGA	0.463000														88			11		0	0	1	0	0
CHRM5	1133	broad.mit.edu	37	15	34354990	34354990	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:34354990C>T	uc001zhk.1	+	2	742	c.72C>T	c.(70-72)cgC>cgT	p.R24R	CHRM5_uc001zhl.1_Silent_p.R24R|CHRM5_uc021sir.1_Silent_p.R24R	NM_012125	NP_036257	P08912	ACM5_HUMAN	Homo sapiens cholinergic receptor, muscarinic 5 (CHRM5), mRNA.	24					cell proliferation|inhibition of adenylate cyclase activity by muscarinic acetylcholine receptor signaling pathway	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	20		all_lung(180;1.76e-08)		all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)	CTTTGGAACGCCACAGGTTGT	0.473000											OREG0023033	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		43			31		0	0	1	0	0
ZBTB7C	201501	broad.mit.edu	37	18	45556204	45556204	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:45556204G>A	uc010dnv.3	-	3	1789	c.1353C>T	c.(1351-1353)ttC>ttT	p.F451F	ZBTB7C_uc002ldb.3_Silent_p.F429F|ZBTB7C_uc010dnu.3_Silent_p.F438F|ZBTB7C_uc010dnw.3_Silent_p.F429F	NM_001039360	NP_001034449	A1YPR0	ZBT7C_HUMAN	Homo sapiens zinc finger and BTB domain containing 7C (ZBTB7C), mRNA.	429						intracellular	nucleic acid binding|zinc ion binding			endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						AGTTGTGCACGAACTTGGCGT	0.592000														23			17		0	0	1	0	0
CYP27C1	339761	broad.mit.edu	37	2	127944866	127944866	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:127944866C>T	uc002tod.2	-	7	1231	c.1100G>A	c.(1099-1101)cGa>cAa	p.R367Q	CYP27C1_uc021vnn.1_Missense_Mutation_p.R367Q	NM_001001665	NP_001001665	Q4G0S4	C27C1_HUMAN	Homo sapiens cytochrome P450, family 27, subfamily C, polypeptide 1 (CYP27C1), mRNA.	367						membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	16	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.071)		GTTAACAAATCGCACGTGGAT	0.493000														37			33		0	0	1	0	0
CASC5	57082	broad.mit.edu	37	15	40949590	40949590	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:40949590G>T	uc010bbs.1	+	24	6871	c.6710G>T	c.(6709-6711)aGa>aTa	p.R2237I	CASC5_uc010bbt.1_Missense_Mutation_p.R2211I	NM_170589	NP_733468	Q8NG31	CASC5_HUMAN	Homo sapiens cancer susceptibility candidate 5 (CASC5), transcript variant 1, mRNA.	2237	Necessary for kinetochore localization and for interaction with NSL1 and DSN1.				CenH3-containing nucleosome assembly at centromere|acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		CACCATTGCAGACTCCTTGGA	0.343000														71			39		2.20914e-33	2.92314e-33	1	1	0
KCNH8	131096	broad.mit.edu	37	3	19492884	19492884	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:19492884C>A	uc003cbk.1	+	9	2008	c.1813C>A	c.(1813-1815)Ctg>Atg	p.L605M	KCNH8_uc011awe.1_3'UTR|KCNH8_uc010hex.1_Missense_Mutation_p.L66M|KCNH8_uc011awf.1_3'UTR	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 8 (KCNH8), mRNA.	605						integral to membrane	two-component sensor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						CAGCATGGTGCTGGCTATTCT	0.448000														45			41		6.45866e-13	8.00107e-13	1	1	0
ATG7	10533	broad.mit.edu	37	3	11468322	11468322	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:11468322G>T	uc003bwc.3	+	17	2118	c.2001G>T	c.(1999-2001)aaG>aaT	p.K667N	ATG7_uc003bwd.3_Missense_Mutation_p.K640N|ATG7_uc011aum.2_Intron	NM_006395	NP_006386	O95352	ATG7_HUMAN	Homo sapiens ATG7 autophagy related 7 homolog (S. cerevisiae) (ATG7), transcript variant 1, mRNA.	667					autophagy|cellular membrane fusion|positive regulation of protein modification process|protein lipidation|protein transport	cytoplasm	APG12 activating enzyme activity|protein homodimerization activity|ubiquitin activating enzyme activity	p.K667N(2)		central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	34						TCCTAGCCAAGGTGTTTAATT	0.348000														41			23		1.22574e-08	1.44238e-08	1	1	0
PCCB	5096	broad.mit.edu	37	3	136048855	136048855	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:136048855A>C	uc011bmc.2	+	15	1718	c.1667A>C	c.(1666-1668)aAt>aCt	p.N556T	PCCB_uc003eqz.1_Intron|PCCB_uc003eqy.2_Missense_Mutation_p.N536T	NM_001178014	NP_001171485	P05166	PCCB_HUMAN	Homo sapiens propionyl CoA carboxylase, beta polypeptide (PCCB), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	536					fatty acid beta-oxidation	mitochondrial matrix	ATP binding|propionyl-CoA carboxylase activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1)	25					Biotin(DB00121)|L-Valine(DB00161)	AAACATGCAAATATTCCATTG	0.443000														67			8		0	0	1	0	0
SLC38A8	146167	broad.mit.edu	37	16	84075744	84075744	+	Nonsense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:84075744C>A	uc002fhg.1	-	0	19	c.19G>T	c.(19-21)Gga>Tga	p.G7*		NM_001080442	NP_001073911	A6NNN8	S38A8_HUMAN	Homo sapiens solute carrier family 38, member 8 (SLC38A8), mRNA.	7					amino acid transport|sodium ion transport	integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						CCCCTGCTTCCTGGGGTCTGT	0.587000														77			9		4.68919e-08	5.46558e-08	1	1	0
ELOVL3	83401	broad.mit.edu	37	10	103987505	103987505	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:103987505C>T	uc001kut.3	+	1	387	c.224C>T	c.(223-225)gCa>gTa	p.A75V		NM_152310	NP_689523	Q9HB03	ELOV3_HUMAN	Homo sapiens ELOVL fatty acid elongase 3 (ELOVL3), mRNA.	75					fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, polyunsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding			breast(2)|lung(10)|ovary(2)|prostate(1)|skin(1)	16		Colorectal(252;0.207)		Epithelial(162;4.47e-08)|all cancers(201;7.96e-07)		TTCTGCCTTGCAATCTTCAGG	0.522000														49			36		0	0	1	0	0
IGSF11	152404	broad.mit.edu	37	3	118624442	118624442	+	Splice_Site	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:118624442C>T	uc003ebw.3	-	5	950	c.703_splice	c.e5+1	p.P235_splice	IGSF11_uc011biv.2_Splice_Site_p.R235_splice|IGSF11_uc003ebx.3_Intron|IGSF11_uc003eby.3_Splice_Site_p.P234_splice|IGSF11_uc003ebz.3_Intron|IGSF11_uc010hqs.3_Splice_Site_p.P234_splice	NM_001015887	NP_001015887	Q5DX21	IGS11_HUMAN	Homo sapiens immunoglobulin superfamily, member 11 (IGSF11), transcript variant 2, mRNA.	235					cell adhesion|regulation of growth	integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CATATGCTTACGTGAAATAAC	0.428000														94			15		0	0	1	0	0
FAM13A	10144	broad.mit.edu	37	4	89827531	89827531	+	Splice_Site	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:89827531T>C	uc003hse.1	-	6	1051	c.843_splice	c.e6+1	p.K281_splice	FAM13A_uc003hsf.1_Splice_Site_p.K72_splice|FAM13A_uc003hsh.1_Splice_Site_p.K95_splice	NM_014883	NP_055698	O94988	FA13A_HUMAN	Homo sapiens family with sequence similarity 13, member A (FAM13A), transcript variant 1, mRNA.	281					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						ATAGTTTACCTTGGTTTTTGG	0.358000														451			20		0	0	1	0	0
MAP2	4133	broad.mit.edu	37	2	210560108	210560108	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:210560108C>A	uc002vde.1	+	6	3462	c.3214C>A	c.(3214-3216)Ctt>Att	p.L1072I	MAP2_uc002vdc.1_Missense_Mutation_p.L1072I|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Missense_Mutation_p.L1068I	NM_002374	NP_002365	P11137	MAP2_HUMAN	Homo sapiens microtubule-associated protein 2 (MAP2), transcript variant 1, mRNA.	1072					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	AGAGCTAAAACTTGAGGCTAC	0.463000														42			24		3.08376e-08	3.60755e-08	1	1	0
ZSWIM4	65249	broad.mit.edu	37	19	13941548	13941548	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:13941548G>A	uc002mxh.1	+	12	2843	c.2654G>A	c.(2653-2655)cGc>cAc	p.R885H	ZSWIM4_uc010xng.1_Missense_Mutation_p.R808H	NM_023072	NP_075560	Q9H7M6	ZSWM4_HUMAN	Homo sapiens zinc finger, SWIM-type containing 4 (ZSWIM4), mRNA.	885							zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			ATTCTGCGCCGCTGGACTCTC	0.697000														73			6		0	0	1	0	0
TET2	54790	broad.mit.edu	37	4	106155088	106155088	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:106155088G>A	uc011cez.2	+	2	457	c.52G>A	c.(52-54)Gaa>Aaa	p.E18K	TET2_uc003hxk.3_5'UTR|TET2_uc003hxj.2_Non-coding_Transcript|TET2_uc021xqk.1_5'UTR|TET2_uc010ilp.2_5'UTR|TET2_uc021xql.1_5'Flank	NM_001127208	NP_001120680	Q6N021	TET2_HUMAN	Homo sapiens tet methylcytosine dioxygenase 2 (TET2), transcript variant 1, mRNA.	0					cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		GGATGGCCCCGAAGCAAGCCT	0.413000			"""Mis N, F"""		MDS									17			6		0	0	1	0	0
RPS6KA1	6195	broad.mit.edu	37	1	26900689	26900689	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:26900689G>A	uc001bmr.1	+	21	2368	c.2205G>A	c.(2203-2205)ctG>ctA	p.L735L	RPS6KA1_uc010ofe.1_Silent_p.L643L|RPS6KA1_uc001bms.1_Silent_p.L744L|RPS6KA1_uc009vsl.1_Silent_p.L578L	NM_002953	NP_002944	Q15418	KS6A1_HUMAN	Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 1 (RPS6KA1), transcript variant 1, mRNA.	735					MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|axon guidance|innate immune response|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		CCACCACCCTGTGAGGCACCA	0.642000														42			6		0	0	1	0	0
ZNF649	65251	broad.mit.edu	37	19	52394115	52394115	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:52394115G>A	uc002pxy.3	-	4	1600	c.1274C>T	c.(1273-1275)aCg>aTg	p.T425M	ZNF577_uc010ydd.1_5'Flank|ZNF577_uc002pxx.4_5'Flank|ZNF577_uc002pxv.3_5'Flank|ZNF577_uc002pxw.3_5'Flank|ZNF577_uc010yde.2_5'Flank|ZNF577_uc010ydf.1_Non-coding_Transcript	NM_023074	NP_075562	Q9BS31	ZN649_HUMAN	Homo sapiens zinc finger protein 649 (ZNF649), mRNA.	425					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.T425A(1)|p.T425T(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)		TCTCTCTCCCGTGTGAGTTCT	0.433000														135			88		0	0	1	0	0
RABEP2	79874	broad.mit.edu	37	16	28925767	28925767	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:28925767G>A	uc002drq.3	-	4	732	c.684C>T	c.(682-684)tgC>tgT	p.C228C	NPIPL1_uc010vct.2_Intron|RABEP2_uc010vdf.2_Silent_p.C157C|RABEP2_uc010byn.3_Silent_p.C228C|RABEP2_uc002drr.3_Silent_p.C228C	NM_024816	NP_079092	Q9H5N1	RABE2_HUMAN	Homo sapiens rabaptin, RAB GTPase binding effector protein 2 (RABEP2), mRNA.	228					endocytosis|protein transport	early endosome	GTPase activator activity|growth factor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	16						CGCTGTCATCGCAGTTGTGAG	0.677000														19			13		0	0	1	0	0
TMEM8A	58986	broad.mit.edu	37	16	427115	427115	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:427115G>A	uc002cgu.4	-	3	686	c.557C>T	c.(556-558)aCg>aTg	p.T186M	TMEM8A_uc002cgv.4_5'UTR	NM_021259	NP_067082	Q9HCN3	TMM8A_HUMAN	Homo sapiens transmembrane protein 8A (TMEM8A), mRNA.	186					cell adhesion	integral to plasma membrane				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	14						GACCACCCGCGTGACCAGCAG	0.637000											OREG0003703	type=REGULATORY REGION|Gene=TMEM8|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		34			28		0	0	1	0	0
MEIS1	4211	broad.mit.edu	37	2	66664997	66664997	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:66664997G>A	uc002sdu.3	+	1	598	c.141G>A	c.(139-141)tcG>tcA	p.S47S	MEIS1_uc002sdt.3_Silent_p.S47S|MEIS1_uc010yqh.2_Non-coding_Transcript|MEIS1_uc010yqi.2_5'Flank|MEIS1_uc002sdw.1_5'Flank	NM_002398	NP_002389	O00470	MEIS1_HUMAN	Homo sapiens Meis homeobox 1 (MEIS1), mRNA.	47							sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	24						CTCTGCACTCGCATCAGTACC	0.577000														7			9		0	0	1	0	0
POLD2	5425	broad.mit.edu	37	7	44154395	44154395	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:44154395G>T	uc010kxz.3	-	11	2049	c.1399C>A	c.(1399-1401)Ctg>Atg	p.L467M	POLD2_uc010kya.3_Missense_Mutation_p.L467M|POLD2_uc003tkf.4_Missense_Mutation_p.L467M	NM_006230	NP_006221	P49005	DPOD2_HUMAN	Homo sapiens polymerase (DNA directed), delta 2, regulatory subunit 50kDa (POLD2), transcript variant 2, mRNA.	467					DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle|base-excision repair|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	12						CAGGGGCCCAGCCCCAGGCCT	0.602000														31			7		5.18039e-06	5.80246e-06	1	1	0
SRGAP2	23380	broad.mit.edu	37	1	206619487	206619487	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:206619487G>A	uc001hdy.3	+	14	1681	c.1680G>A	c.(1678-1680)tcG>tcA	p.S560S	SRGAP2_uc010prt.1_Silent_p.S483S|SRGAP2_uc001hdx.3_Silent_p.S560S|SRGAP2_uc010pru.2_Silent_p.S559S|SRGAP2_uc010prv.1_Silent_p.S484S	NM_015326	NP_056141	O75044	FNBP2_HUMAN	Homo sapiens SLIT-ROBO Rho GTPase activating protein 2 (SRGAP2), transcript variant 1, mRNA.	647	Rho-GAP.				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			NS(1)|breast(1)|kidney(1)|lung(1)	4	Breast(84;0.137)					TCGGGCCCTCGCTAATGTCAG	0.532000														76			39		0	0	1	0	0
EGLN3	112399	broad.mit.edu	37	14	34419872	34419872	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:34419872G>A	uc001wsa.4	-	0	413	c.87C>T	c.(85-87)tgC>tgT	p.C29C	EGLN3_uc001wry.3_Intron	NM_022073	NP_071356	Q9H6Z9	EGLN3_HUMAN	Homo sapiens egl nine homolog 3 (C. elegans) (EGLN3), mRNA.	29					apoptosis	cytoplasm|nucleus	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|upper_aerodigestive_tract(1)	15	Breast(36;0.0303)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.000246)|Lung(238;0.000959)|Epithelial(34;0.155)	GBM - Glioblastoma multiforme(112;0.0118)	Vitamin C(DB00126)	TGTCCAGGTAGCAGAAGCCCA	0.652000														27			11		0	0	1	0	0
VPS54	51542	broad.mit.edu	37	2	64148459	64148459	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:64148459C>A	uc002scq.3	-	12	1913	c.1750G>T	c.(1750-1752)Gat>Tat	p.D584Y	VPS54_uc002scp.3_Missense_Mutation_p.D572Y|VPS54_uc002scn.3_5'Flank|VPS54_uc002sco.3_Missense_Mutation_p.D69Y|VPS54_uc010fct.3_Missense_Mutation_p.D431Y	NM_016516	NP_057600	Q9P1Q0	VPS54_HUMAN	Homo sapiens vacuolar protein sorting 54 homolog (S. cerevisiae) (VPS54), transcript variant 1, mRNA.	584					protein transport|retrograde transport, endosome to Golgi					endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	27						AATTTCATATCTTCACTGACC	0.343000														43			6		3.59834e-05	3.95114e-05	1	1	0
DAP3	7818	broad.mit.edu	37	1	155695804	155695804	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155695804C>A	uc001flq.3	+	5	623	c.466C>A	c.(466-468)Cca>Aca	p.P156T	GON4L_uc021paz.1_Intron|DAP3_uc010pgl.2_Missense_Mutation_p.P115T|DAP3_uc010pgm.2_Missense_Mutation_p.P122T|DAP3_uc001fls.3_Missense_Mutation_p.P156T|DAP3_uc001flr.3_Missense_Mutation_p.P156T	NM_033657	NP_387506	P51398	RT29_HUMAN	Homo sapiens death associated protein 3 (DAP3), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	156					induction of apoptosis by extracellular signals	mitochondrial ribosome|nucleolus|small ribosomal subunit	protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	24	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					ACTACATATTCCAGATGGTAA	0.368000														48			12		9.31168e-06	1.03939e-05	1	1	0
PNN	5411	broad.mit.edu	37	14	39648331	39648331	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:39648331G>T	uc001wuw.4	+	6	632	c.535G>T	c.(535-537)Gtt>Ttt	p.V179F		NM_002687	NP_002678	Q9H307	PININ_HUMAN	Homo sapiens pinin, desmosome associated protein (PNN), mRNA.	179	Glu-rich.|Necessary for interaction with RNPS1.				cell adhesion|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|desmosome|intermediate filament|nuclear speck	DNA binding|protein binding|structural molecule activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)|stomach(1)	27	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0119)		AAAACTTGAAGTTCAGGCAGA	0.388000														44			29		1.17739e-12	1.4548e-12	1	1	0
RC3H2	54542	broad.mit.edu	37	9	125618095	125618095	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:125618095C>T	uc010mwc.1	-	13	2758	c.2517G>A	c.(2515-2517)tgG>tgA	p.W839*	RC3H2_uc004bnc.2_Non-coding_Transcript|RC3H2_uc004bnd.1_Nonsense_Mutation_p.W839*|RC3H2_uc004bne.4_Nonsense_Mutation_p.W839*	NM_001100588	NP_001094058	Q9HBD1	RC3H2_HUMAN	Homo sapiens ring finger and CCCH-type domains 2 (RC3H2), transcript variant 1, mRNA.	839						cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						TGCCACAAGACCAGGGAGAAT	0.368000														47			32		0	0	1	0	0
CES3	23491	broad.mit.edu	37	16	67005218	67005218	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:67005218T>C	uc002eqt.3	+	9	1366	c.1287T>C	c.(1285-1287)ctT>ctC	p.L429L	CES3_uc010cdz.3_Silent_p.L429L|CES3_uc010viw.2_Silent_p.L68L	NM_024922	NP_079198	Q6UWW8	EST3_HUMAN	Homo sapiens carboxylesterase 3 (CES3), transcript variant 1, mRNA.	429						endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	24		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127)		CAAGATACCTTCGAGGTAAGC	0.552000														61			6		0	0	1	0	0
COPB2	9276	broad.mit.edu	37	3	139092254	139092254	+	Splice_Site	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:139092254G>A	uc003etf.4	-	9	1025	c.895_splice	c.e9-1	p.L299_splice	COPB2_uc011bmv.2_Splice_Site_p.L270_splice|COPB2_uc010hui.3_Splice_Site_p.L270_splice	NM_004766	NP_004757	P35606	COPB2_HUMAN	Homo sapiens coatomer protein complex, subunit beta 2 (beta prime) (COPB2), transcript variant 1, mRNA.	299					COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	24						TCCCGACCAAGCTGAAAGAAA	0.408000														29			4		0	0	1	0	0
KRT18	3875	broad.mit.edu	37	12	53344642	53344642	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:53344642C>T	uc001sbe.3	+	3	678	c.609C>T	c.(607-609)atC>atT	p.I203I	KRT18_uc009zmn.2_Silent_p.I203I|KRT18_uc001sbg.3_Silent_p.I203I|KRT8_uc009zml.1_5'Flank|KRT8_uc009zmm.1_5'Flank	NM_199187	NP_954657	P05783	K1C18_HUMAN	Homo sapiens keratin 18 (KRT18), transcript variant 2, mRNA.	203	Coil 1B.|Necessary for interaction with PNN.|Rod.				Golgi to plasma membrane CFTR protein transport|anatomical structure morphogenesis|cell cycle|interspecies interaction between organisms|negative regulation of apoptosis	centriolar satellite|keratin filament|perinuclear region of cytoplasm	protein binding|structural molecule activity			central_nervous_system(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	11						AGACAGAGATCGAGGCTCTCA	0.572000														5			5		0	0	1	0	0
SLC3A2	6520	broad.mit.edu	37	11	62655861	62655861	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:62655861G>A	uc001nwd.3	+	11	1847	c.1589G>A	c.(1588-1590)cGg>cAg	p.R530Q	SLC3A2_uc001nwc.3_Missense_Mutation_p.R531Q|SLC3A2_uc001nwf.3_Missense_Mutation_p.R468Q|SLC3A2_uc001nwg.3_Missense_Mutation_p.R429Q	NM_002394	NP_001013269	P08195	4F2_HUMAN	Homo sapiens solute carrier family 3 (activators of dibasic and neutral amino acid transport), member 2 (SLC3A2), transcript variant 3, mRNA.	530					blood coagulation|carbohydrate metabolic process|cell growth|cellular nitrogen compound metabolic process|leucine import|leukocyte migration|tryptophan transport	apical plasma membrane|cell surface|integral to membrane|melanosome	calcium:sodium antiporter activity|catalytic activity|cation binding|neutral amino acid transmembrane transporter activity|protein binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)	22						AGTGACCAGCGGAGTAAGGAG	0.572000														74			8		0	0	1	0	0
LIPH	200879	broad.mit.edu	37	3	185251378	185251378	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:185251378T>C	uc003fpm.3	-	2	617	c.507A>G	c.(505-507)ggA>ggG	p.G169G	LIPH_uc010hyh.3_Silent_p.G169G	NM_139248	NP_640341	Q8WWY8	LIPH_HUMAN	Homo sapiens lipase, member H (LIPH), mRNA.	169					lipid catabolic process	extracellular space|plasma membrane	heparin binding|phospholipase activity	p.D168N(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(2)	20	all_cancers(143;8.87e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			TCCCCAGCCATCCATCGTACA	0.493000														71			13		0	0	1	0	0
CITED2	10370	broad.mit.edu	37	6	139694780	139694780	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:139694780G>A	uc021zfz.1	-	1	392	c.302C>T	c.(301-303)cCc>cTc	p.P101L	CITED2_uc021zga.1_Missense_Mutation_p.P101L|CITED2_uc003qip.1_Missense_Mutation_p.P101L|CITED2_uc021zgb.1_Missense_Mutation_p.P101L	NM_001168389	NP_006070	Q99967	CITE2_HUMAN	Homo sapiens Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2 (CITED2), transcript variant 3, mRNA.	101					adrenal cortex formation|anti-apoptosis|cell proliferation|determination of left/right symmetry|heart development|liver development|negative regulation of cell migration|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell cycle|positive regulation of cell-cell adhesion|positive regulation of male gonad development|positive regulation of peroxisome proliferator activated receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of organ formation|response to estrogen stimulus|response to fluid shear stress|response to hypoxia|sex determination	cytoplasm|nuclear chromatin|nucleus	LBD domain binding|chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			large_intestine(1)|lung(4)	5	Breast(32;0.226)			GBM - Glioblastoma multiforme(68;0.000171)|OV - Ovarian serous cystadenocarcinoma(155;0.00134)		GGCCACCGGGGGACCCATGAA	0.657000														19			16		0	0	1	0	0
ZNF71	58491	broad.mit.edu	37	19	57133187	57133187	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:57133187C>A	uc002qnm.4	+	2	770	c.532C>A	c.(532-534)Cgg>Agg	p.R178R	ZNF71_uc021vcg.1_Silent_p.R178R	NM_021216	NP_067039	Q9NQZ8	ZNF71_HUMAN	Homo sapiens zinc finger protein 71 (ZNF71), mRNA.	178						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		CATCCACCAGCGGGTGCACAC	0.617000														16			14		9.05144e-12	1.10939e-11	1	1	0
TNFRSF11A	8792	broad.mit.edu	37	18	60036460	60036460	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:60036460G>T	uc002lin.3	+	8	1348	c.1310G>T	c.(1309-1311)aGc>aTc	p.S437I	TNFRSF11A_uc010dpv.3_Intron	NM_003839	NP_003830	Q9Y6Q6	TNR11_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 11a, NFKB activator (TNFRSF11A), mRNA.	437					adaptive immune response|cell-cell signaling|circadian temperature homeostasis|monocyte chemotaxis|osteoclast differentiation|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of cell proliferation|positive regulation of fever generation by positive regulation of prostaglandin secretion|response to interleukin-1|response to lipopolysaccharide	external side of plasma membrane|integral to membrane	metal ion binding|tumor necrosis factor receptor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(13)|skin(3)|upper_aerodigestive_tract(1)	29		Colorectal(73;0.188)				TGGGCAGCCAGCCCCAGCCCC	0.612000														38			5		0.00116845	0.00123466	1	1	0
NMT1	4836	broad.mit.edu	37	17	43180480	43180480	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:43180480C>T	uc002ihz.3	+	8	1173	c.1155C>T	c.(1153-1155)ttC>ttT	p.F385F	NMT1_uc010dad.1_Silent_p.F45F	NM_021079	NP_066565	P30419	NMT1_HUMAN	Homo sapiens N-myristoyltransferase 1 (NMT1), mRNA.	385					N-terminal protein myristoylation|activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals|protein lipoylation	actin cytoskeleton|cell junction|cytosol	glycylpeptide N-tetradecanoyltransferase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)	8		Prostate(33;0.155)				TCGACACTTTCGTGGTGGAGG	0.577000														54			19		0	0	1	0	0
ARMC4	55130	broad.mit.edu	37	10	28260120	28260120	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:28260120C>A	uc009xky.3	-	7	1157	c.1059G>T	c.(1057-1059)aaG>aaT	p.K353N	ARMC4_uc010qds.2_Intron|ARMC4_uc010qdt.2_Missense_Mutation_p.K45N|ARMC4_uc001itz.3_Missense_Mutation_p.K353N|ARMC4_uc010qdu.1_Missense_Mutation_p.K45N	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN	Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA.	353							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						TAATTTGGTTCTTCTCCAGTG	0.423000														62			31		1.80694e-10	2.18278e-10	1	1	0
KIAA1324	57535	broad.mit.edu	37	1	109714636	109714636	+	Splice_Site	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:109714636G>A	uc021orb.1	+	4	836	c.615_splice	c.e4+1	p.F205_splice	KIAA1324_uc009wex.2_Splice_Site_p.F205_splice|KIAA1324_uc010ovg.2_Splice_Site_p.F103_splice|KIAA1324_uc009wey.3_Splice_Site_p.F205_splice	NM_020775	NP_065826	Q6UXG2	K1324_HUMAN	Homo sapiens KIAA1324 (KIAA1324), mRNA.	205					macroautophagy|positive regulation of vacuole organization|regulation of apoptosis	integral to plasma membrane				NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		TGAGTTTTTCGTAAGCCCCTG	0.507000														107			40		0	0	1	0	0
TTC17	55761	broad.mit.edu	37	11	43423045	43423045	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:43423045C>T	uc001mxi.3	+	9	1339	c.1269C>T	c.(1267-1269)tgC>tgT	p.C423C	TTC17_uc001mxh.3_Silent_p.C423C|TTC17_uc010rfj.2_Silent_p.C366C|TTC17_uc001mxj.3_Silent_p.C193C	NM_018259	NP_060729	Q96AE7	TTC17_HUMAN	Homo sapiens tetratricopeptide repeat domain 17 (TTC17), mRNA.	423							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						GTTTACATTGCCAGTGGGACC	0.408000														20			4		0	0	1	0	0
ATP11B	23200	broad.mit.edu	37	3	182547540	182547540	+	Splice_Site	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:182547540G>T	uc003flb.3	+	4	572	c.315_splice	c.e4+1	p.Q105_splice	ATP11B_uc003fla.3_Splice_Site_p.Q105_splice	NM_014616	NP_055431	Q9Y2G3	AT11B_HUMAN	Homo sapiens ATPase, class VI, type 11B (ATP11B), mRNA.	105					ATP biosynthetic process|aminophospholipid transport	integral to membrane|nuclear inner membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			CCATAAAGCAGGTATGAAATA	0.299000														10			5		5.9392e-07	6.7814e-07	1	1	0
CMIP	80790	broad.mit.edu	37	16	81725387	81725387	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:81725387T>C	uc002fgp.3	+	10	1468	c.1396T>C	c.(1396-1398)Tat>Cat	p.Y466H	CMIP_uc002fgq.2_Missense_Mutation_p.Y372H|CMIP_uc010vnq.2_Missense_Mutation_p.Y279H|CMIP_uc002fgr.2_Missense_Mutation_p.Y313H|CMIP_uc010vnr.1_5'Flank	NM_198390	NP_938204	Q8IY22	CMIP_HUMAN	Homo sapiens c-Maf inducing protein (CMIP), transcript variant 1, mRNA.	432						cytoplasm|nucleus				endometrium(5)|kidney(1)|lung(7)	13						TAGGTCAGACTATGATGACTG	0.527000														15			9		0	0	1	0	0
PON1	5444	broad.mit.edu	37	7	94991693	94991693	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:94991693T>G	uc003unt.3	-	7	912	c.887A>C	c.(886-888)gAg>gCg	p.E296A	PON1_uc011kih.2_Intron	NM_000940	NP_000931	P27169	PON1_HUMAN	Homo sapiens paraoxonase 3 (PON3), mRNA.	297					aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus	spherical high-density lipoprotein particle	aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	27	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0031)		Atorvastatin(DB01076)|Cefazolin(DB01327)	TGGAGGGTCCTCAGGGTTATA	0.468000														52			5		0	0	1	0	0
GPR83	10888	broad.mit.edu	37	11	94113341	94113341	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:94113341C>T	uc001pet.2	-	3	1418	c.1246G>A	c.(1246-1248)Gtg>Atg	p.V416M		NM_016540	NP_057624	Q9NYM4	GPR83_HUMAN	Homo sapiens G protein-coupled receptor 83 (GPR83), mRNA.	416						integral to membrane|plasma membrane	neuropeptide Y receptor activity	p.V416L(2)		NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				ATGGGTTCCACAGATGACAGG	0.557000														38			7		0	0	1	0	0
NAA35	60560	broad.mit.edu	37	9	88590033	88590033	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:88590033G>A	uc004aoi.4	+	7	725	c.588G>A	c.(586-588)atG>atA	p.M196I	NAA35_uc004aoj.4_Missense_Mutation_p.M196I|NAA35_uc004aok.1_Missense_Mutation_p.M196I	NM_024635	NP_078911	Q5VZE5	NAA35_HUMAN	Homo sapiens N(alpha)-acetyltransferase 35, NatC auxiliary subunit (NAA35), mRNA.	196					smooth muscle cell proliferation	cytoplasm|nucleus|plasma membrane				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	25						TTCTAGGCATGCTAAAAGATG	0.299000														75			7		0	0	1	0	0
MAGED1	9500	broad.mit.edu	37	X	51640312	51640312	+	Missense_Mutation	SNP	G	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:51640312G>C	uc004dpn.3	+	5	1789	c.1599G>C	c.(1597-1599)aaG>aaC	p.K533N	MAGED1_uc004dpm.3_Missense_Mutation_p.K477N|MAGED1_uc004dpo.3_Missense_Mutation_p.K477N	NM_001005333	NP_001005333	Q9Y5V3	MAGD1_HUMAN	Homo sapiens melanoma antigen family D, 1 (MAGED1), transcript variant 1, mRNA.	477	MAGE.				apoptosis|induction of apoptosis by extracellular signals|negative regulation of epithelial cell proliferation|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|plasma membrane|protein complex	protein binding			breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32	Ovarian(276;0.236)					AGGCAAATAAGTTGGTCAAGT	0.418000										Multiple Myeloma(10;0.10)				35			18		0	0	1	0	0
FAM75E1	286234	broad.mit.edu	37	9	90502272	90502272	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:90502272G>A	uc004app.4	+	3	2905	c.2870G>A	c.(2869-2871)gGg>gAg	p.G957E		NM_178828	NP_849150	Q6ZUB1	CI079_HUMAN	Homo sapiens chromosome 9 open reading frame 79 (C9orf79), mRNA.	957						integral to membrane		p.G957V(1)									AAGGGCAGGGGGTGTTCTCAG	0.622000														38			4		0	0	1	0	0
TIA1	7072	broad.mit.edu	37	2	70454956	70454956	+	Splice_Site	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:70454956T>G	uc002sgj.4	-	6	528	c.311_splice	c.e6-1	p.D104_splice	TIA1_uc002sgk.4_Splice_Site_p.N93_splice|TIA1_uc002sgl.4_Splice_Site|TIA1_uc002sgm.3_Splice_Site_p.D104_splice	NM_022173	NP_071505	P31483	TIA1_HUMAN	Homo sapiens TIA1 cytotoxic granule-associated RNA binding protein (TIA1), transcript variant 2, mRNA.	104					apoptosis|induction of apoptosis|regulation of nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|poly(A) RNA binding|protein binding			endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	17						GGAAATGATCTTATAAGGGGA	0.318000														56			33		0	0	1	0	0
RSRC1	51319	broad.mit.edu	37	3	157841751	157841751	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:157841751G>A	uc003fbt.3	+	2	402	c.291G>A	c.(289-291)caG>caA	p.Q97Q	RSRC1_uc011bou.1_Silent_p.Q97Q|RSRC1_uc003fbu.1_Silent_p.Q97Q|RSRC1_uc003fbv.3_Silent_p.Q97Q	NM_016625	NP_057709	Q96IZ7	RSRC1_HUMAN	Homo sapiens arginine/serine-rich coiled-coil 1 (RSRC1), mRNA.	97	Arg/Ser-rich.				nucleocytoplasmic transport	cytoplasm|nuclear speck	protein binding			cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1)	18			Lung(72;0.00416)|LUSC - Lung squamous cell carcinoma(72;0.00575)			ATAGAGTTCAGAGGTCTAGGT	0.413000														42			17		0	0	1	0	0
BUB1	699	broad.mit.edu	37	2	111398963	111398963	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:111398963G>A	uc002tgc.3	-	21	2816	c.2704C>T	c.(2704-2706)Ctt>Ttt	p.L902F	BUB1_uc010yxh.2_Missense_Mutation_p.L882F|BUB1_uc010fkb.3_Intron	NM_004336	NP_004327	O43683	BUB1_HUMAN	Homo sapiens budding uninhibited by benzimidazoles 1 homolog (yeast) (BUB1), mRNA.	902	Protein kinase.				apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		ATCATGTAAAGCATTCTCATA	0.373000														82			56		0	0	1	0	0
RNASEH2B	79621	broad.mit.edu	37	13	51504821	51504821	+	Missense_Mutation	SNP	G	T	T	rs76158094		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:51504821G>T	uc001vfa.4	+	3	646	c.247G>T	c.(247-249)Ggt>Tgt	p.G83C	RNASEH2B_uc001vfb.4_Missense_Mutation_p.G83C	NM_024570	NP_078846	Q5TBB1	RNH2B_HUMAN	Homo sapiens ribonuclease H2, subunit B (RNASEH2B), transcript variant 1, mRNA.	83					RNA catabolic process	nucleus|ribonuclease H2 complex				endometrium(2)|liver(1)|lung(1)|upper_aerodigestive_tract(1)	5		Acute lymphoblastic leukemia(7;1.03e-07)|Breast(56;0.00122)|Lung NSC(96;0.00143)|Prostate(109;0.0047)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;9e-08)		ATCTGCAGGAGGTCTTCTCCA	0.418000														121			20		7.41877e-09	8.75093e-09	1	1	0
LRRK1	79705	broad.mit.edu	37	15	101601435	101601435	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:101601435C>A	uc002bwr.3	+	29	5058	c.4739C>A	c.(4738-4740)cCt>cAt	p.P1580H	LRRK1_uc010usb.2_Non-coding_Transcript|LRRK1_uc010usc.2_Non-coding_Transcript|LRRK1_uc002bws.3_Non-coding_Transcript	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	Homo sapiens leucine-rich repeat kinase 1 (LRRK1), mRNA.	1580					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.T1579K(1)		breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			ATGTGCTGCCCTGGGATGAAG	0.617000														29			4		0.184627	0.186034	1	1	0
SLC2A12	154091	broad.mit.edu	37	6	134323202	134323202	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:134323202C>T	uc003qem.1	-	3	1804	c.1633G>A	c.(1633-1635)Gtt>Att	p.V545I		NM_145176	NP_660159	Q8TD20	GTR12_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 12 (SLC2A12), mRNA.	545						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity			NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	17	Breast(56;0.214)|Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123)		AACATAACAACAAAAAGCAGG	0.348000														82			6		0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41465683	41465683	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:41465683C>A	uc002yyq.1	-	20	4267	c.3815G>T	c.(3814-3816)aGc>aTc	p.S1272I	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	1272	Fibronectin type-III 4.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GATTTCACTGCTGTTGCCTCT	0.473000														9			7		0.0293803	0.0299714	1	1	0
CPA1	1357	broad.mit.edu	37	7	130020367	130020367	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:130020367G>A	uc003vpx.3	+	0	78	c.6G>A	c.(4-6)cgG>cgA	p.R2R	CPA1_uc011kpf.1_5'UTR|CPA1_uc003vpw.2_Silent_p.R2R	NM_001868	NP_001859	P15085	CBPA1_HUMAN	Homo sapiens carboxypeptidase A1 (pancreatic) (CPA1), mRNA.	2					proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(18;0.0435)					GCAGCATGCGGGGGTTGCTGG	0.632000														41			47		0	0	1	0	0
MED13	9969	broad.mit.edu	37	17	60072628	60072628	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:60072628G>A	uc002izo.3	-	9	2143	c.2066C>T	c.(2065-2067)gCa>gTa	p.A689V		NM_005121	NP_005112	Q9UHV7	MED13_HUMAN	Homo sapiens mediator complex subunit 13 (MED13), mRNA.	689					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TTCTTGTTCTGCATCAGATGC	0.333000														102			18		0	0	1	0	0
DTNA	1837	broad.mit.edu	37	18	32345949	32345949	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:32345949G>A	uc010dmn.1	+	1	93	c.92G>A	c.(91-93)cGa>cAa	p.R31Q	DTNA_uc002kxu.2_Missense_Mutation_p.R31Q|DTNA_uc010xbx.2_Missense_Mutation_p.R31Q|DTNA_uc002kxv.4_Missense_Mutation_p.R31Q|DTNA_uc002kxw.2_Missense_Mutation_p.R31Q|DTNA_uc002kxx.2_Missense_Mutation_p.R31Q|DTNA_uc002kxz.2_Missense_Mutation_p.R31Q|DTNA_uc002kxy.2_Missense_Mutation_p.R31Q|DTNA_uc010dmj.3_Missense_Mutation_p.R31Q|DTNA_uc002kyb.4_Missense_Mutation_p.R31Q|DTNA_uc010dml.3_Missense_Mutation_p.R31Q|DTNA_uc010dmm.3_Missense_Mutation_p.R31Q	NM_001390	NP_001381	Q9Y4J8	DTNA_HUMAN	Homo sapiens dystrobrevin, alpha (DTNA), transcript variant 1, mRNA.	31	Interaction with MAGEE1 (By similarity).				neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						GATCGCATCCGACTCTCCACC	0.403000														21			12		0	0	1	0	0
C9orf43	257169	broad.mit.edu	37	9	116191520	116191520	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:116191520G>T	uc004bhp.3	+	13	1686	c.1240G>T	c.(1240-1242)Gcc>Tcc	p.A414S	C9orf43_uc004bho.4_Missense_Mutation_p.A414S	NM_152786	NP_689999	Q8TAL5	CI043_HUMAN	Homo sapiens chromosome 9 open reading frame 43 (C9orf43), mRNA.	414										breast(2)|large_intestine(6)|lung(2)|ovary(1)|pancreas(1)|prostate(3)	15						TGTGCCAGAAGCCCAGGCTGC	0.448000														125			15		6.72482e-11	8.1643e-11	1	1	0
RBM12B	389677	broad.mit.edu	37	8	94746082	94746082	+	Nonsense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:94746082C>A	uc022aye.1	-	0	2557	c.2557G>T	c.(2557-2559)Gaa>Taa	p.E853*	RBM12B_uc003yfz.3_Nonsense_Mutation_p.E853*	NM_203390	NP_976324	Q8IXT5	RB12B_HUMAN	Homo sapiens RNA binding motif protein 12B (RBM12B), mRNA.	853							RNA binding|nucleotide binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			TCCGGAGCTTCCCTAAGGTCT	0.527000														82			7		2.7689e-08	3.24273e-08	1	1	0
RP1L1	94137	broad.mit.edu	37	8	10469301	10469301	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:10469301C>A	uc003wtc.3	-	3	2536	c.2307G>T	c.(2305-2307)agG>agT	p.R769S		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	769					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GCGAGCATGTCCTGGACCCCG	0.662000														41			21		1.10513e-12	1.3661e-12	1	1	0
CDCP1	64866	broad.mit.edu	37	3	45152200	45152200	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:45152200G>A	uc003com.3	-	3	924	c.789C>T	c.(787-789)agC>agT	p.S263S	CDCP1_uc003con.3_Silent_p.S263S	NM_022842	NP_073753	Q9H5V8	CDCP1_HUMAN	Homo sapiens CUB domain containing protein 1 (CDCP1), transcript variant 1, mRNA.	263						extracellular region|integral to membrane|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		GGAAGGAGACGCTGGCCCGCA	0.572000														86			47		0	0	1	0	0
CCDC85A	114800	broad.mit.edu	37	2	56602991	56602991	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:56602991G>A	uc002rzn.3	+	4	1995	c.1493G>A	c.(1492-1494)aGt>aAt	p.S498N	CCDC85A_uc021vhw.1_Intron	NM_001080433	NP_001073902	Q96PX6	CC85A_HUMAN	Homo sapiens coiled-coil domain containing 85A (CCDC85A), mRNA.	498										breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			GGGAGTAACAGTTCACCCAAC	0.428000														31			17		0	0	1	0	0
C7orf63	79846	broad.mit.edu	37	7	89915682	89915682	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:89915682C>A	uc010lep.3	+	13	1876	c.1625C>A	c.(1624-1626)tCt>tAt	p.S542Y	C7orf63_uc003ukf.2_Non-coding_Transcript|C7orf63_uc003ukg.2_Missense_Mutation_p.S217Y|C7orf63_uc011khj.2_Missense_Mutation_p.S524Y|C7orf63_uc011khk.2_Missense_Mutation_p.S104Y	NM_001039706	NP_001034795	A5D8W1	CG063_HUMAN	Homo sapiens chromosome 7 open reading frame 63 (C7orf63), transcript variant 1, mRNA.	542							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						CTTATCCTATCTGGCCTTTGT	0.348000														78			26		4.59853e-10	5.52125e-10	1	1	0
NLRP14	338323	broad.mit.edu	37	11	7059905	7059905	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:7059905T>C	uc001mfb.1	+	1	411	c.88T>C	c.(88-90)Ttc>Ctc	p.F30L		NM_176822	NP_789792	Q86W24	NAL14_HUMAN	Homo sapiens NLR family, pyrin domain containing 14 (NLRP14), mRNA.	30	DAPIN.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		ATTAAATACATTCAAGTTATT	0.428000														77			5		0	0	1	0	0
FAM114A1	92689	broad.mit.edu	37	4	38930892	38930892	+	Missense_Mutation	SNP	C	T	T	rs148278995	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:38930892C>T	uc003gtn.3	+	9	1358	c.1099C>T	c.(1099-1101)Cgc>Tgc	p.R367C	FAM114A1_uc011byh.2_Missense_Mutation_p.R160C|FAM114A1_uc010ifi.3_Missense_Mutation_p.R25C	NM_138389	NP_612398	Q8IWE2	NXP20_HUMAN	Homo sapiens family with sequence similarity 114, member A1 (FAM114A1), transcript variant 1, mRNA.	367			R -> H (in dbSNP:rs2306923).			cytoplasm				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	20						AGAATTTGCTCGCATGCTTAC	0.413000														33			36		0	0	1	0	0
WDR11	55717	broad.mit.edu	37	10	122664854	122664854	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:122664854A>G	uc021pzt.1	+	25	3463	c.3217A>G	c.(3217-3219)Ata>Gta	p.I1073V	WDR11_uc010qte.2_Missense_Mutation_p.I675V|WDR11_uc001lfd.1_Missense_Mutation_p.I591V|AX747838_uc001lfe.1_5'Flank|WDR11_uc021pzu.1_5'Flank	NM_018117	NP_060587	Q9BZH6	WDR11_HUMAN	Homo sapiens WD repeat domain 11 (WDR11), mRNA.	1073						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						GCTCTGCCTGATAGATAAGGC	0.498000														43			4		0	0	1	0	0
RRBP1	6238	broad.mit.edu	37	20	17608171	17608171	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:17608171G>A	uc002wpw.1	-	9	1884	c.1607C>T	c.(1606-1608)gCg>gTg	p.A536V	RRBP1_uc002wpu.3_Missense_Mutation_p.A310V|RRBP1_uc010gcl.1_Missense_Mutation_p.A310V|RRBP1_uc002wpv.1_Missense_Mutation_p.A536V|RRBP1_uc010gcm.1_Intron	NM_004587	NP_004578	Q9P2E9	RRBP1_HUMAN	Homo sapiens ribosome binding protein 1 homolog 180kDa (dog) (RRBP1), transcript variant 2, mRNA.	969	41 X 10 AA approximate tandem repeats of [TN]-Q-[GSA]-[KRQT]-K-[ATGSV]-[ED]- [GTAS]-[ATIS]-[PQTAS].				protein transport|translation|transmembrane transport	integral to endoplasmic reticulum membrane|ribosome	receptor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						GGCATCCCGCGCCTGGCCCGC	0.672000														24			26		0	0	1	0	0
VANGL1	81839	broad.mit.edu	37	1	116227955	116227955	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:116227955G>A	uc001efv.1	+	6	1392	c.1121G>A	c.(1120-1122)cGt>cAt	p.R374H	VANGL1_uc009wgy.1_Missense_Mutation_p.R372H|VANGL1_uc021ose.1_Missense_Mutation_p.R374H	NM_138959	NP_620409	Q8TAA9	VANG1_HUMAN	Homo sapiens vang-like 1 (van gogh, Drosophila) (VANGL1), transcript variant 1, mRNA.	374					multicellular organismal development	integral to membrane	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(13)|urinary_tract(1)	27	Lung SC(450;0.211)	all_cancers(81;1.24e-06)|all_epithelial(167;1.02e-06)|all_lung(203;7.95e-06)|Lung NSC(69;4.97e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		CACATTCAGCGTCTCCAGGCT	0.587000														39			17		0	0	1	0	0
CIC	23152	broad.mit.edu	37	19	42797203	42797203	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:42797203G>A	uc002otf.1	+	14	3605	c.3565G>A	c.(3565-3567)Gtg>Atg	p.V1189M		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	Homo sapiens capicua homolog (Drosophila) (CIC), mRNA.	1189	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	p.V1189L(2)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CAGCATTCCCGTGGGGTCCTT	0.672000			"""Mis, F, S"""		oligodendroglioma									11			9		0	0	1	0	0
RAD54L	8438	broad.mit.edu	37	1	46738396	46738396	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:46738396C>T	uc001cpl.2	+	11	2008	c.1297C>T	c.(1297-1299)Ccg>Tcg	p.P433S	RAD54L_uc009vye.2_Missense_Mutation_p.P433S	NM_003579	NP_003570	Q92698	RAD54_HUMAN	Homo sapiens RAD54-like (S. cerevisiae) (RAD54L), transcript variant 1, mRNA.	433					meiosis	nucleus	ATP binding|DNA binding|helicase activity			breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		ACAAGCCAAACCGGCAGAAGA	0.493000								Direct reversal of damage;Homologous recombination						42			37		0	0	1	0	0
EEF1D	1936	broad.mit.edu	37	8	144663400	144663400	+	Splice_Site	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:144663400G>A	uc003yyq.2	-	4	1766	c.1537_splice	c.e4+1	p.V513_splice	NAPRT1_uc003yym.4_5'Flank|NAPRT1_uc003yyn.4_5'Flank|NAPRT1_uc011lkh.2_5'Flank|NAPRT1_uc003yyo.4_5'Flank|EEF1D_uc003yyp.2_Splice_Site_p.V439_splice|EEF1D_uc011lki.2_Splice_Site_p.V97_splice|EEF1D_uc003yyv.3_Splice_Site_p.V73_splice|EEF1D_uc003yyu.3_Splice_Site_p.V97_splice|EEF1D_uc011lkk.2_Splice_Site_p.V97_splice|EEF1D_uc003yyt.3_Splice_Site_p.V463_splice|EEF1D_uc003yyr.3_Splice_Site_p.V463_splice|EEF1D_uc003yys.3_Splice_Site_p.V97_splice|EEF1D_uc011lkl.2_Intron	NM_032378	NP_115754	P29692	EF1D_HUMAN	Homo sapiens eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein) (EEF1D), transcript variant 1, mRNA.	97					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytosol|eukaryotic translation elongation factor 1 complex	protein binding|signal transducer activity|translation elongation factor activity			breast(2)|cervix(1)|endometrium(1)|kidney(4)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			GGGCCTCACCGCCACGCAGAC	0.687000														28			4		0	0	1	0	0
MRGPRX3	117195	broad.mit.edu	37	11	18158969	18158969	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:18158969C>A	uc021qek.1	+	0	220	c.220C>A	c.(220-222)Ctc>Atc	p.L74I	MRGPRX3_uc001mnu.3_Missense_Mutation_p.L74I	NM_054031	NP_473372	Q96LB0	MRGX3_HUMAN	Homo sapiens MAS-related GPR, member X3 (MRGPRX3), mRNA.	74						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						GGCCGACTTCCTCTTCCTTAG	0.562000														42			38		1.60099e-16	2.02999e-16	1	1	0
MBD3	53615	broad.mit.edu	37	19	1578393	1578393	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:1578393G>A	uc002ltj.3	-	5	844	c.822C>T	c.(820-822)gaC>gaT	p.D274D	AX747577_uc002lti.1_5'Flank|MBD3_uc002ltk.3_Silent_p.D242D|MBD3_uc002ltl.1_Silent_p.D274D	NM_003926	NP_003917	O95983	MBD3_HUMAN	Homo sapiens methyl-CpG binding domain protein 3 (MBD3), mRNA.	274	Poly-Glu.				transcription, DNA-dependent	NuRD complex	DNA binding|protein binding			central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	8		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.179)|STAD - Stomach adenocarcinoma(1328;0.18)		cctcctcctcgtcttcctcgt	0.716000														18			9		0	0	1	0	0
HNRNPUL2	221092	broad.mit.edu	37	11	62491095	62491095	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:62491095G>A	uc001nuw.3	-	3	1084	c.855C>T	c.(853-855)taC>taT	p.Y285Y	HNRNPUL2_uc001nuu.2_Non-coding_Transcript	NM_001079559	NP_001073027	Q1KMD3	HNRL2_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein U-like 2 (HNRNPUL2), mRNA.	285	B30.2/SPRY.				cell killing	nucleus	ATP binding|nucleic acid binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						TTGTCACTCCGTAAGTACTCC	0.463000														19			17		0	0	1	0	0
MLL2	8085	broad.mit.edu	37	19	36210784	36210784	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:36210784C>T	uc021usv.1	+	2	535	c.535C>T	c.(535-537)Cgg>Tgg	p.R179W	MLL2_uc021usu.1_5'UTR	NM_014727	NP_055542	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 4 (MLL4), mRNA.	636					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						GACCCCTGCCCGGAAACGGGG	0.667000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				34			23		0	0	1	0	0
FCRLA	84824	broad.mit.edu	37	1	161681736	161681736	+	Missense_Mutation	SNP	C	T	T	rs140395904		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:161681736C>T	uc001gbe.3	+	4	823	c.581C>T	c.(580-582)gCg>gTg	p.A194V	FCRLA_uc001gbg.3_Missense_Mutation_p.A48V|FCRLA_uc009wup.3_Intron|FCRLA_uc009wuq.3_Intron|FCRLA_uc001gbd.3_Missense_Mutation_p.A188V|FCRLA_uc001gbf.3_Missense_Mutation_p.A99V|FCRLA_uc009wuo.3_Missense_Mutation_p.A54V	NM_001184866	NP_001171795	Q7L513	FCRLA_HUMAN	Homo sapiens Fc receptor-like A (FCRLA), transcript variant 1, mRNA.	171	Ig-like C2-type 2.				cell differentiation	cytoplasm|extracellular region				breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1)	34	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00301)			CTGTTTCCAGCGCCAATTCTC	0.522000														225			111		0	0	1	0	0
DBF4	10926	broad.mit.edu	37	7	87536982	87536982	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:87536982C>A	uc003ujf.1	+	11	2033	c.1529C>A	c.(1528-1530)aCt>aAt	p.T510N	DBF4_uc003ujh.1_Missense_Mutation_p.T250N|DBF4_uc003ujg.1_Missense_Mutation_p.T286N|DBF4_uc011khf.1_Missense_Mutation_p.T277N	NM_006716	NP_006707	Q9UBU7	DBF4A_HUMAN	Homo sapiens DBF4 homolog (S. cerevisiae) (DBF4), mRNA.	510					DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|cell cycle checkpoint	nucleoplasm	enzyme activator activity|nucleic acid binding|protein binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|skin(3)	28	Esophageal squamous(14;0.00202)	Breast(660;0.0334)				AAGTCAGATACTGTGCTTTTT	0.363000														92			29		2.12542e-12	2.62166e-12	1	1	0
NPFFR2	10886	broad.mit.edu	37	4	72897732	72897732	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:72897732G>A	uc003hgg.2	+	0	212	c.114G>A	c.(112-114)caG>caA	p.Q38Q	NPFFR2_uc010iig.2_5'UTR	NM_004885	NP_444264	Q9Y5X5	NPFF2_HUMAN	Homo sapiens neuropeptide FF receptor 2 (NPFFR2), transcript variant 1, mRNA.	38					detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			GCGTCCAGCAGCGCGGCGGGC	0.677000														19			16		0	0	1	0	0
ADAM10	102	broad.mit.edu	37	15	58889778	58889778	+	Nonsense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:58889778C>A	uc002afd.1	-	15	2659	c.2215G>T	c.(2215-2217)Gag>Tag	p.E739*	ADAM10_uc010bgc.1_Non-coding_Transcript|ADAM10_uc010ugz.1_Nonsense_Mutation_p.E438*|ADAM10_uc002afe.1_Intron	NM_001110	NP_001101	O14672	ADA10_HUMAN	Homo sapiens ADAM metallopeptidase domain 10 (ADAM10), mRNA.	739					Notch receptor processing|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|cell-cell signaling|constitutive protein ectodomain proteolysis|epidermal growth factor receptor signaling pathway|in utero embryonic development|integrin-mediated signaling pathway|monocyte activation|negative regulation of cell adhesion|positive regulation of T cell chemotaxis|positive regulation of cell growth|positive regulation of cell proliferation|protein phosphorylation|response to tumor necrosis factor	Golgi-associated vesicle|cell surface|endomembrane system|integral to membrane|nucleus|plasma membrane	SH3 domain binding|integrin binding|metalloendopeptidase activity|protein homodimerization activity|protein kinase binding|zinc ion binding			breast(1)|endometrium(1)|kidney(5)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)	27				GBM - Glioblastoma multiforme(80;0.202)		TGATAACTCTCTCGGGGCCGC	0.468000														57			5		0.184627	0.186034	1	1	0
DPY19L1	23333	broad.mit.edu	37	7	34985313	34985313	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:34985313A>C	uc003tem.4	-	15	1436	c.1291T>G	c.(1291-1293)Tgg>Ggg	p.W431G		NM_015283	NP_056098	Q2PZI1	D19L1_HUMAN	Homo sapiens dpy-19-like 1 (C. elegans) (DPY19L1), mRNA.	431						integral to membrane				endometrium(3)|kidney(5)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	31						AAGACACCCCACATATCACTA	0.264000														56			5		0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79443853	79443853	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:79443853T>C	uc003hlb.2	+	68	11139	c.10699T>C	c.(10699-10701)Ttg>Ctg	p.L3567L		NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	3562					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						ATCTTTCGTATTGACTCCAGA	0.433000														10			14		0	0	1	0	0
KIF23	9493	broad.mit.edu	37	15	69733243	69733243	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:69733243C>T	uc002asb.3	+	17	2382	c.2204C>T	c.(2203-2205)aCg>aTg	p.T735M	KIF23_uc002asc.3_Intron|KIF23_uc010bii.3_Missense_Mutation_p.T625M|KIF23_uc010ukc.2_Intron	NM_138555	NP_612565	Q02241	KIF23_HUMAN	Homo sapiens kinesin family member 23 (KIF23), transcript variant 1, mRNA.	735					blood coagulation|cytokinesis|microtubule-based movement|mitosis|mitotic spindle elongation	cytosol|kinesin complex|microtubule|midbody|nucleoplasm|spindle	ATP binding|microtubule motor activity|protein binding	p.P734S(1)		central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1)	21						AAAATTCCTACGTACAACACA	0.493000														48			4		0	0	1	0	0
SBSPON	157869	broad.mit.edu	37	8	73993338	73993338	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:73993338C>T	uc003xzf.3	-	1	530	c.325G>A	c.(325-327)Ggg>Agg	p.G109R		NM_153225	NP_694957	Q8IVN8	RPESP_HUMAN	Homo sapiens chromosome 8 open reading frame 84 (C8orf84), mRNA.	109	TSP type-1.				immune response	extracellular region	polysaccharide binding|scavenger receptor activity	p.G104W(1)									CAGGGCGCCCCGCCGTTCTGA	0.647000														51			35		0	0	1	0	0
PCNX	22990	broad.mit.edu	37	14	71524435	71524435	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:71524435T>C	uc001xmo.2	+	25	5292	c.4846T>C	c.(4846-4848)Ttc>Ctc	p.F1616L	PCNX_uc010are.1_Missense_Mutation_p.F1505L|PCNX_uc010arf.1_Intron	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	Homo sapiens pecanex homolog (Drosophila) (PCNX), mRNA.	1616						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		GGGACTTGAATTCAGAGGTAA	0.408000														151			87		0	0	1	0	0
ZNF566	84924	broad.mit.edu	37	19	36940060	36940060	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:36940060C>A	uc010xtf.2	-	4	1214	c.1079G>T	c.(1078-1080)aGa>aTa	p.R360I	ZNF566_uc002oea.4_Missense_Mutation_p.R359I|ZNF566_uc010xte.2_Missense_Mutation_p.R359I|ZNF566_uc002oeb.4_Missense_Mutation_p.R359I|ZNF566_uc002oec.4_Missense_Mutation_p.R255I|ZNF566_uc010xtg.2_Missense_Mutation_p.R255I	NM_001145343	NP_001138815	Q969W8	ZN566_HUMAN	Homo sapiens zinc finger protein 566 (ZNF566), transcript variant 4, mRNA.	359					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24	Esophageal squamous(110;0.162)					AGTATGAATTCTCTGATGTCT	0.378000														36			4		0.00024832	0.000267289	1	1	0
CDV3	55573	broad.mit.edu	37	3	133306798	133306798	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:133306798G>A	uc003epq.3	+	4	1140	c.685G>A	c.(685-687)Gag>Aag	p.E229K	CDV3_uc003epp.4_3'UTR|CDV3_uc003epr.3_3'UTR	NM_017548	NP_060018	Q9UKY7	CDV3_HUMAN	Homo sapiens CDV3 homolog (mouse) (CDV3), transcript variant 2, mRNA.	229					cell proliferation	cytoplasm				kidney(3)|lung(1)|prostate(1)	5						AGGTAGGGATGAGGTTTCAAA	0.368000														66			41		0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100675687	100675687	+	Silent	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100675687T>G	uc003uxp.1	+	2	1043	c.990T>G	c.(988-990)acT>acG	p.T330T	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	330	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)					CAACTTATACTGAAGGAAGCA	0.493000														208			13		0	0	1	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121650943	121650943	+	Nonsense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:121650943G>T	uc003vjy.3	+	11	2238	c.1843G>T	c.(1843-1845)Gag>Tag	p.E615*	PTPRZ1_uc011knt.2_Nonsense_Mutation_p.E615*|PTPRZ1_uc003vjz.3_Nonsense_Mutation_p.E615*	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor-type, Z polypeptide 1 (PTPRZ1), transcript variant 1, mRNA.	615					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						CGAAAACCCAGAGACAATAAC	0.413000														78			20		8.10497e-08	9.41436e-08	1	1	0
CELSR2	1952	broad.mit.edu	37	1	109795908	109795908	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:109795908A>G	uc001dxa.4	+	0	3268	c.3207A>G	c.(3205-3207)gaA>gaG	p.E1069E		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 2 (flamingo homolog, Drosophila) (CELSR2), mRNA.	1069	Cadherin 9.				Wnt receptor signaling pathway|dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent	cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		GGGGAAATGAACTCAGCCTGG	0.577000														49			15		0	0	1	0	0
ANKRD16	54522	broad.mit.edu	37	10	5927718	5927718	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:5927718G>A	uc010qat.2	-	2	1089	c.546C>T	c.(544-546)ggC>ggT	p.G182G	ANKRD16_uc009xie.3_Silent_p.G182G|ANKRD16_uc009xif.3_Silent_p.G182G|ANKRD16_uc001iiq.3_Silent_p.G182G	NM_019046	NP_061919	Q6P6B7	ANR16_HUMAN	Homo sapiens ankyrin repeat domain 16 (ANKRD16), transcript variant 1, mRNA.	182										breast(1)|endometrium(1)|large_intestine(5)|lung(3)|stomach(2)	12						CCTCCAAATGGCCATGCATTG	0.443000														43			29		0	0	1	0	0
MAVS	57506	broad.mit.edu	37	20	3845045	3845045	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:3845045C>A	uc002wjw.4	+	5	940	c.768C>A	c.(766-768)tcC>tcA	p.S256S	MAVS_uc002wjx.4_Silent_p.S115S|MAVS_uc002wjy.4_5'UTR	NM_020746	NP_001193420	Q7Z434	MAVS_HUMAN	Homo sapiens mitochondrial antiviral signaling protein (MAVS), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	256					activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of IP-10 production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus	integral to membrane|mitochondrial outer membrane	CARD domain binding|protein kinase binding|signal transducer activity			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						CCTTCTCCTCCTCATCCCCTG	0.632000														28			22		2.21704e-12	2.7329e-12	1	1	0
KRT5	3852	broad.mit.edu	37	12	52914038	52914038	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:52914038G>A	uc001san.3	-	0	206	c.43C>T	c.(43-45)Cgt>Tgt	p.R15C	KRT5_uc009zmh.3_Missense_Mutation_p.R15C	NM_000424	NP_000415	P13647	K2C5_HUMAN	Homo sapiens keratin 5 (KRT5), mRNA.	15	Head.				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		CTGAAGCTACGACTGCCCCCG	0.652000														11			9		0	0	1	0	0
CTSB	1508	broad.mit.edu	37	8	11705621	11705621	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:11705621T>C	uc003wuq.3	-	5	649	c.487A>G	c.(487-489)Aca>Gca	p.T163A	CTSB_uc003wul.3_Missense_Mutation_p.T100A|CTSB_uc010lsc.3_Missense_Mutation_p.T39A|CTSB_uc011kxl.2_Missense_Mutation_p.T84A|CTSB_uc003wum.3_Missense_Mutation_p.T163A|CTSB_uc003wun.3_Missense_Mutation_p.T163A|CTSB_uc003wuo.3_Missense_Mutation_p.T163A|CTSB_uc003wup.3_Missense_Mutation_p.T163A|CTSB_uc003wuu.3_Missense_Mutation_p.T19A	NM_001908	NP_680093	P07858	CATB_HUMAN	Homo sapiens cathepsin B (CTSB), transcript variant 1, mRNA.	163					proteolysis|regulation of apoptosis|regulation of catalytic activity	lysosome|melanosome	cysteine-type endopeptidase activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(1)	16	all_epithelial(15;0.205)		STAD - Stomach adenocarcinoma(15;0.00546)	COAD - Colon adenocarcinoma(149;0.184)		CCTTTTCTTGTCCAGAAGTTC	0.488000														32			41		0	0	1	0	0
SQLE	6713	broad.mit.edu	37	8	126017926	126017926	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:126017926A>G	uc011liq.2	+	2	1630	c.704A>G	c.(703-705)aAa>aGa	p.K235R		NM_003129	NP_003120	Q14534	ERG1_HUMAN	Homo sapiens squalene epoxidase (SQLE), mRNA.	235					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome	flavin adenine dinucleotide binding|squalene monooxygenase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)		Butenafine(DB01091)|Naftifine(DB00735)|Terbinafine(DB00857)	AGTCTCCGGAAAGCAGCTATG	0.373000														24			16		0	0	1	0	0
NCBP1	4686	broad.mit.edu	37	9	100407398	100407398	+	Splice_Site	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:100407398G>T	uc004axq.3	+	5	841	c.382_splice	c.e5-1	p.V128_splice		NM_002486	NP_002477	Q09161	NCBP1_HUMAN	Homo sapiens nuclear cap binding protein subunit 1, 80kDa (NCBP1), mRNA.	128	MIF4G.				gene silencing by RNA|histone mRNA metabolic process|mRNA 3'-end processing|mRNA capping|mRNA cleavage|mRNA export from nucleus|ncRNA metabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of mRNA 3'-end processing|positive regulation of viral transcription|regulation of translational initiation|spliceosomal snRNP assembly|termination of RNA polymerase II transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	cytosol|mRNA cap binding complex|nucleoplasm|ribonucleoprotein complex	RNA cap binding|protein binding			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)	19		Acute lymphoblastic leukemia(62;0.158)				TGCCCCAACAGGTCCGTTTTT	0.338000														51			37		2.04263e-09	2.43515e-09	1	1	0
ITGB7	3695	broad.mit.edu	37	12	53585794	53585794	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:53585794T>G	uc009zmv.3	-	13	2236	c.2165A>C	c.(2164-2166)gAc>gCc	p.D722A	ITGB7_uc001scc.3_Missense_Mutation_p.D722A|ITGB7_uc010snz.2_Non-coding_Transcript	NM_000889	NP_000880	P26010	ITB7_HUMAN	Homo sapiens integrin, beta 7 (ITGB7), mRNA.	722					cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|regulation of immune response	integrin complex	identical protein binding|metal ion binding|receptor activity			NS(2)|breast(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CTGCGTGTGGTCTGCTCCCTC	0.597000														13			9		0	0	1	0	0
ARID4A	5926	broad.mit.edu	37	14	58831923	58831923	+	Missense_Mutation	SNP	G	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:58831923G>C	uc001xdp.3	+	19	3370	c.3116G>C	c.(3115-3117)gGt>gCt	p.G1039A	ARID4A_uc001xdo.3_Missense_Mutation_p.G1039A|ARID4A_uc001xdq.3_Missense_Mutation_p.G1039A|ARID4A_uc010apg.1_Missense_Mutation_p.G717A	NM_002892	NP_002883	P29374	ARI4A_HUMAN	Homo sapiens AT rich interactive domain 4A (RBP1-like) (ARID4A), transcript variant 1, mRNA.	1039					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TCTCAAGAAGGTCTCTGTGAG	0.408000														75			31		0	0	1	0	0
MMP10	4319	broad.mit.edu	37	11	102642785	102642785	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:102642785G>A	uc001phg.2	-	8	1325	c.1288C>T	c.(1288-1290)Cca>Tca	p.P430S		NM_002425	NP_002416	P09238	MMP10_HUMAN	Homo sapiens matrix metallopeptidase 10 (stromelysin 2) (MMP10), mRNA.	430	Hemopexin-like 3.				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6)	22	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)		TCAACTCCTGGAAAGTCATCA	0.393000														35			19		0	0	1	0	0
KCNQ4	9132	broad.mit.edu	37	1	41303411	41303411	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:41303411C>T	uc001cgh.2	+	12	1902	c.1820C>T	c.(1819-1821)gCg>gTg	p.A607V	KCNQ4_uc001cgi.2_Missense_Mutation_p.A553V	NM_004700	NP_004691	P56696	KCNQ4_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 4 (KCNQ4), transcript variant 1, mRNA.	607	A-domain (Tetramerization).				sensory perception of sound	basal plasma membrane|voltage-gated potassium channel complex		p.A607V(2)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1)	26	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)			CCCTCCGACGCGGAGGTGGTG	0.627000														3			8		0	0	1	0	0
C1orf31	388753	broad.mit.edu	37	1	234510123	234510123	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:234510123T>C	uc001hwc.3	+	1	306	c.270T>C	c.(268-270)tgT>tgC	p.C90C	C1orf31_uc001hwb.3_Silent_p.C44C	NM_001012985	NP_001193570	Q5JTJ3	CA031_HUMAN	Homo sapiens chromosome 1 open reading frame 31 (C1orf31), transcript variant 1, mRNA.	90						mitochondrion	cytochrome-c oxidase activity			breast(1)|kidney(1)|large_intestine(1)|lung(2)	5	Ovarian(103;0.0339)	all_cancers(173;0.241)|Prostate(94;0.0353)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			AATCAAGTTGTCCCCAACAGT	0.463000														88			17		0	0	1	0	0
ZBTB40	9923	broad.mit.edu	37	1	22828087	22828087	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:22828087C>A	uc001bft.2	+	4	1445	c.934C>A	c.(934-936)Ctg>Atg	p.L312M	ZBTB40_uc001bfu.2_Missense_Mutation_p.L312M|ZBTB40_uc009vqi.1_Intron|ZBTB40_uc001bfv.1_5'UTR	NM_001083621	NP_055685	Q9NUA8	ZBT40_HUMAN	Homo sapiens zinc finger and BTB domain containing 40 (ZBTB40), transcript variant 1, mRNA.	312					bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		TGTTGTGTCCCTGTTGAGGCT	0.443000														51			5		1.23904e-05	1.3743e-05	1	1	0
ARAP3	64411	broad.mit.edu	37	5	141039454	141039454	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:141039454C>T	uc003llm.3	-	21	3237	c.3159G>A	c.(3157-3159)cgG>cgA	p.R1053R	ARAP3_uc003lll.3_Silent_p.R4R|ARAP3_uc011dbe.2_Silent_p.R715R|ARAP3_uc003lln.3_Silent_p.R884R	NM_022481	NP_071926	Q8WWN8	ARAP3_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 (ARAP3), mRNA.	1053	Rho-GAP.				cytoskeleton organization|negative regulation of Rho protein signal transduction|negative regulation of cell migration|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|Rho GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding	p.R1053R(2)		NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						GAGCCAAGTTCCGCGTGCACA	0.557000														8			6		0	0	1	0	0
HEATR1	55127	broad.mit.edu	37	1	236738000	236738000	+	Silent	SNP	G	A	A	rs145524497		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:236738000G>A	uc001hyd.2	-	22	3440	c.3288C>T	c.(3286-3288)taC>taT	p.Y1096Y	HEATR1_uc009xgh.2_Intron	NM_018072	NP_060542	Q9H583	HEAT1_HUMAN	Homo sapiens HEAT repeat containing 1 (HEATR1), mRNA.	1096					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			GCATTCCCGCGTAAAGTTCCT	0.383000														52			57		0	0	1	0	0
NINL	22981	broad.mit.edu	37	20	25491316	25491316	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:25491316C>T	uc002wux.1	-	4	585	c.511G>A	c.(511-513)Gca>Aca	p.A171T	NINL_uc010gdn.1_Missense_Mutation_p.A171T|NINL_uc010gdo.1_5'UTR|NINL_uc010ztf.1_Missense_Mutation_p.A187T	NM_025176	NP_079452	Q9Y2I6	NINL_HUMAN	Homo sapiens ninein-like (NINL), mRNA.	171					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						TTACCTTGTGCTTCAAATAAT	0.502000														61			39		0	0	1	0	0
GPR128	84873	broad.mit.edu	37	3	100368606	100368606	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:100368606C>A	uc003duc.3	+	10	1602	c.1334C>A	c.(1333-1335)tCt>tAt	p.S445Y	GPR128_uc011bhc.2_Missense_Mutation_p.S146Y	NM_032787	NP_116176	Q96K78	GP128_HUMAN	Homo sapiens G protein-coupled receptor 128 (GPR128), mRNA.	445					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						TGTGCACTGTCTGTTACTGGT	0.348000														47			26		1.75199e-13	2.18028e-13	1	1	0
TBX1	6899	broad.mit.edu	37	22	19752591	19752591	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:19752591C>T	uc002zqa.1	+	5	924	c.795C>T	c.(793-795)ttC>ttT	p.F265F	TBX1_uc002zqb.3_Silent_p.F265F|TBX1_uc002zqc.3_Silent_p.F265F	NM_080647	NP_542378	O43435	TBX1_HUMAN	Homo sapiens T-box 1 (TBX1), transcript variant C, mRNA.	265					embryonic viscerocranium morphogenesis|heart development|parathyroid gland development|pharyngeal system development|regulation of transcription from RNA polymerase II promoter|soft palate development|thymus development	nucleus	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|lung(3)|ovary(2)	8	Colorectal(54;0.0993)	all_lung(157;3.05e-06)				CCTTTGTGTTCGAGGAGACAC	0.557000														45			30		0	0	1	0	0
MSL3	10943	broad.mit.edu	37	X	11783771	11783771	+	Missense_Mutation	SNP	G	T	T	rs147804390	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:11783771G>T	uc004cuw.3	+	8	1199	c.1094G>T	c.(1093-1095)aGc>aTc	p.S365I	MSL3_uc004cuv.1_Missense_Mutation_p.S365I|MSL3_uc011mig.2_Missense_Mutation_p.S216I|MSL3_uc011mih.2_Missense_Mutation_p.S353I|MSL3_uc004cuy.3_Missense_Mutation_p.S199I	NM_078629	NP_006791	Q8N5Y2	MS3L1_HUMAN	Homo sapiens male-specific lethal 3 homolog (Drosophila) (MSL3), transcript variant 1, mRNA.	365					histone H4-K16 acetylation|multicellular organismal development|transcription from RNA polymerase II promoter	MSL complex	DNA binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	19						TCTGAGAGCAGCGCTTCACCT	0.612000														67			47		5.7616e-29	7.58986e-29	1	1	0
ZNF212	7988	broad.mit.edu	37	7	148947529	148947529	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:148947529C>T	uc003wfp.3	+	1	432	c.304C>T	c.(304-306)Cag>Tag	p.Q102*		NM_012256	NP_036388	Q9UDV6	ZN212_HUMAN	Homo sapiens zinc finger protein 212 (ZNF212), mRNA.	102					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|ovary(1)|prostate(1)	9	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)			GACCCTGCTGCAGGAGTATGG	0.652000														144			20		0	0	1	0	0
VWA3B	200403	broad.mit.edu	37	2	98852926	98852926	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:98852926G>T	uc002syo.3	+	17	2766	c.2502G>T	c.(2500-2502)caG>caT	p.Q834H	VWA3B_uc002syk.1_Non-coding_Transcript|VWA3B_uc002syl.1_Missense_Mutation_p.Q353H|VWA3B_uc002sym.3_Missense_Mutation_p.Q834H|VWA3B_uc002syn.1_Non-coding_Transcript|VWA3B_uc010yvi.1_Missense_Mutation_p.Q491H|VWA3B_uc002syp.1_Missense_Mutation_p.Q226H|VWA3B_uc002syq.1_Missense_Mutation_p.Q110H|VWA3B_uc002syr.1_Missense_Mutation_p.Q151H|VWA3B_uc010fih.1_5'Flank	NM_144992	NP_659429	Q502W6	VWA3B_HUMAN	Homo sapiens von Willebrand factor A domain containing 3B (VWA3B), mRNA.	834										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						AAGGAAGCCAGGTTTATGACC	0.433000														37			36		9.17885e-22	1.18973e-21	1	1	0
AHNAK2	113146	broad.mit.edu	37	14	105416584	105416584	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:105416584G>A	uc010axc.1	-	6	5324	c.5204C>T	c.(5203-5205)gCc>gTc	p.A1735V	AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.A1635V	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	1735						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TTTGAAGCCGGCTCCCTCGGG	0.632000														95			67		0	0	1	0	0
CLEC4A	50856	broad.mit.edu	37	12	8278156	8278156	+	Splice_Site	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:8278156G>A	uc001qtz.1	+	2	330	c.83_splice	c.e2-1	p.A28_splice	CLEC4A_uc009zga.1_Intron|CLEC4A_uc001qub.1_Splice_Site_p.A28_splice|CLEC4A_uc001quc.1_Intron|CLEC4A_uc009zgb.1_Splice_Site_p.A28_splice	NM_016184	NP_057268	Q9UMR7	CLC4A_HUMAN	Homo sapiens C-type lectin domain family 4, member A (CLEC4A), transcript variant 1, mRNA.	28					cell adhesion|cell surface receptor linked signaling pathway|innate immune response	integral to plasma membrane	sugar binding|transmembrane receptor activity			cervix(1)|endometrium(3)|large_intestine(2)|lung(4)|prostate(1)	11				Kidney(36;0.0915)		TTCTTCTTCAGCTTCCAAGGA	0.418000														45			6		0	0	1	0	0
GLB1L2	89944	broad.mit.edu	37	11	134239698	134239698	+	Splice_Site	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:134239698G>T	uc001qhp.3	+	11	1216	c.1028_splice	c.e11-1	p.D343_splice	GLB1L2_uc009zdg.1_Splice_Site	NM_138342	NP_612351	Q8IW92	GLBL2_HUMAN	Homo sapiens galactosidase, beta 1-like 2 (GLB1L2), mRNA.	343					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)		GTGTCTTGCAGACTATGATGC	0.547000														58			66		5.61366e-43	7.46707e-43	1	1	0
RAPGEF6	51735	broad.mit.edu	37	5	130769276	130769276	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:130769276C>A	uc003kvn.2	-	24	4027	c.3821G>T	c.(3820-3822)aGc>aTc	p.S1274I	RAPGEF6_uc003kvp.2_Missense_Mutation_p.S1324I|RAPGEF6_uc003kvo.2_Missense_Mutation_p.S1287I|RAPGEF6_uc010jdi.2_Missense_Mutation_p.S1282I|RAPGEF6_uc010jdj.2_Missense_Mutation_p.S1282I|RAPGEF6_uc003kvm.2_Missense_Mutation_p.S197I	NM_016340	NP_057424	Q8TEU7	RPGF6_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 6 (RAPGEF6), transcript variant 2, mRNA.	1274	Ser-rich.				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|Ras GTPase binding|guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		GCTCACGATGCTGGACCGTGA	0.483000														29			15		1.3612e-06	1.54683e-06	1	1	0
CBX6	23466	broad.mit.edu	37	22	39262866	39262866	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:39262866G>T	uc003awl.3	-	4	650	c.587C>A	c.(586-588)gCg>gAg	p.A196E		NM_014292	NP_055107	O95503	CBX6_HUMAN	Homo sapiens chromobox homolog 6 (CBX6), mRNA.	196					chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex				large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6	Melanoma(58;0.04)					gcgggccagcgccccggcccc	0.662000														11			6		0.248553	0.249802	1	1	0
TCR-alpha	0	broad.mit.edu	37	14	22788839	22788839	+	Splice_Site	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:22788839G>T	uc001wdr.2	+	2	105	c.53_splice	c.e2-1	p.C18_splice	TCRA_uc001wbw.2_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Intron|TCRA_uc001wco.3_Intron|TCRA_uc010aje.1_Intron|TCRA_uc001wcp.2_Intron|TCRA_uc001wcr.1_Intron|TCRA_uc001wcs.1_Intron|TCRA_uc010ajf.1_Intron|TCRA_uc001wcu.4_Intron|TCRA_uc021rpn.1_Intron|TCRA_uc001wcx.4_Intron|TCRA_uc021rpr.1_Intron|TCRA_uc001wdd.2_Intron|TCRA_uc010ajj.1_Intron|TCRA_uc001wde.1_Intron|TCRA_uc010ajk.2_Intron|TCRA_uc001wdg.1_Intron|TCRA_uc021rpt.1_Intron|TCRA_uc010ajl.1_Intron|AV4S1_uc021rpv.1_Intron|TCRA_uc010ajo.1_Intron|TCRA_uc010ajp.1_Intron|TCRA_uc021rpw.1_Intron|TRAV38-2DV8_uc010tmr.2_Intron					Homo sapiens mRNA for T cell receptor alpha variable 41, partial cds, clone: SEB 69.																		TTTGAGAACAGGTGTAAGTGC	0.403000														14			10		1.58986e-06	1.80238e-06	1	1	0
FAM83F	113828	broad.mit.edu	37	22	40417586	40417586	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:40417586C>T	uc003ayk.1	+	3	1166	c.1072C>T	c.(1072-1074)Cag>Tag	p.Q358*		NM_138435	NP_612444	Q8NEG4	FA83F_HUMAN	Homo sapiens family with sequence similarity 83, member F (FAM83F), mRNA.	358										breast(1)|endometrium(2)|large_intestine(1)|lung(4)|skin(4)|urinary_tract(2)	14						CCCGGAGGGGCAGGAGGAGGG	0.716000														22			5		0	0	1	0	0
MLL2	8085	broad.mit.edu	37	12	49444195	49444195	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:49444195C>T	uc001rta.4	-	10	3176	c.3176G>A	c.(3175-3177)gGg>gAg	p.G1059E		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	1059	Pro-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						CACTACCTTCCCTATGGGACT	0.577000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				14			7		0	0	1	0	0
DUSP9	1852	broad.mit.edu	37	X	152914912	152914912	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:152914912G>A	uc004fhx.4	+	2	803	c.599G>A	c.(598-600)cGg>cAg	p.R200Q	DUSP9_uc004fhy.4_Missense_Mutation_p.R200Q	NM_001395	NP_001386	Q99956	DUS9_HUMAN	Homo sapiens dual specificity phosphatase 9 (DUSP9), mRNA.	200					JNK cascade|inactivation of MAPK activity	cytosol|endoplasmic reticulum|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GTGGGGCTGCGGGCATCCTTC	0.637000														48			22		0	0	1	0	0
AFM	173	broad.mit.edu	37	4	74351700	74351700	+	Missense_Mutation	SNP	C	A	A	rs149614377		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:74351700C>A	uc003hhb.3	+	3	423	c.392C>A	c.(391-393)tCt>tAt	p.S131Y		NM_001133	NP_001124	P43652	AFAM_HUMAN	Homo sapiens afamin (AFM), mRNA.	131	Albumin 1.				vitamin transport		vitamin E binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AACAAGAAATCTGATGTGGGA	0.413000														44			37		2.32173e-10	2.80169e-10	1	1	0
ACER1	125981	broad.mit.edu	37	19	6312450	6312450	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:6312450C>T	uc002mel.2	-	1	232	c.154G>A	c.(154-156)Gcc>Acc	p.A52T		NM_133492	NP_597999	Q8TDN7	ACER1_HUMAN	Homo sapiens alkaline ceramidase 1 (ACER1), mRNA.	52						endoplasmic reticulum membrane|integral to membrane	ceramidase activity			NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)	15						CGCTTCTGGGCATACGGGTGC	0.552000														55			33		0	0	1	0	0
RPS6KA3	6197	broad.mit.edu	37	X	20185731	20185731	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:20185731G>A	uc004czu.3	-	16	1578	c.1578C>T	c.(1576-1578)acC>acT	p.T526T	RPS6KA3_uc011mjk.2_Silent_p.T496T|RPS6KA3_uc004czv.3_Silent_p.T513T|RPS6KA3_uc011mjl.2_Silent_p.T497T|RPS6KA3_uc011mjm.2_Silent_p.T498T	NM_004586	NP_004577	P51812	KS6A3_HUMAN	Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 3 (RPS6KA3), mRNA.	526	Protein kinase 2.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|axon guidance|central nervous system development|innate immune response|nerve growth factor receptor signaling pathway|skeletal system development|stress-activated MAPK cascade|synaptic transmission|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(14)|lung(7)|ovary(1)|stomach(1)	41						GATATTCAACGGTTTTAGTTA	0.353000														171			83		0	0	1	0	0
FAM135A	57579	broad.mit.edu	37	6	71236045	71236045	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:71236045G>T	uc003pfj.3	+	12	3391	c.3258G>T	c.(3256-3258)gaG>gaT	p.E1086D	FAM135A_uc003pfi.3_Missense_Mutation_p.E890D|FAM135A_uc003pfh.3_Missense_Mutation_p.E873D|FAM135A_uc003pfl.3_Missense_Mutation_p.E753D|FAM135A_uc003pfn.3_Missense_Mutation_p.E292D|FAM135A_uc003pfo.1_Missense_Mutation_p.E457D|FAM135A_uc010kan.2_5'Flank	NM_001162529	NP_001156001	Q9P2D6	F135A_HUMAN	Homo sapiens family with sequence similarity 135, member A (FAM135A), transcript variant 3, mRNA.	1086										breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						AAGAGGATGAGGAGGAAGAGC	0.393000														38			7		8.12818e-05	8.84769e-05	1	1	0
CYP4A22	284541	broad.mit.edu	37	1	47603166	47603166	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:47603166C>A	uc001cqv.1	+	0	60	c.9C>A	c.(7-9)gtC>gtA	p.V3V	CYP4A22_uc009vyo.3_Silent_p.V3V|CYP4A22_uc009vyp.3_Silent_p.V3V	NM_001010969	NP_001010969	Q5TCH4	CP4AM_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 22 (CYP4A22), mRNA.	3						endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CCATGAGTGTCTCTGTCCTGA	0.602000														58			37		1.30998e-17	1.67124e-17	1	1	0
PALLD	23022	broad.mit.edu	37	4	169842815	169842815	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:169842815G>A	uc011cjx.2	+	17	3192	c.2981G>A	c.(2980-2982)cGt>cAt	p.R994H	CBR4_uc011cjy.2_Intron|PALLD_uc003iru.3_Missense_Mutation_p.R977H|PALLD_uc003irv.3_Missense_Mutation_p.R595H|PALLD_uc003irw.3_Missense_Mutation_p.R490H|PALLD_uc003irx.3_Missense_Mutation_p.R203H	NM_001166108	NP_001159580	Q8WX93	PALLD_HUMAN	Homo sapiens palladin, cytoskeletal associated protein (PALLD), transcript variant 1, mRNA.	1201					cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		GTCACGTCACGTGATGCCGGC	0.537000									Pancreatic Cancer, Familial Clustering of					31			17		0	0	1	0	0
SV2C	22987	broad.mit.edu	37	5	75427914	75427914	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:75427914G>A	uc003kei.1	+	1	473	c.339G>A	c.(337-339)aaG>aaA	p.K113K		NM_014979	NP_055794	Q496J9	SV2C_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2C (SV2C), mRNA.	113					neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		GGCAGCCCAAGGGCGATGAGT	0.542000														25			7		0	0	1	0	0
KRT84	3890	broad.mit.edu	37	12	52779359	52779359	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:52779359C>T	uc001sah.1	-	0	59	c.11G>A	c.(10-12)cGc>cAc	p.R4H		NM_033045	NP_149034	Q9NSB2	KRT84_HUMAN	Homo sapiens keratin 84 (KRT84), mRNA.	4	Head.					keratin filament	structural constituent of epidermis			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TCGGTAGGAGCGGCAAGACAT	0.572000														56			26		0	0	1	0	0
CPEB1	64506	broad.mit.edu	37	15	83296072	83296072	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:83296072G>A	uc002bit.3	-	1	379	c.242C>T	c.(241-243)gCa>gTa	p.A81V	CPEB1_uc002biu.3_Missense_Mutation_p.A48V|CPEB1_uc010uof.2_5'UTR|CPEB1_uc002biv.3_Missense_Mutation_p.A21V	NM_001079533	NP_001073001	Q9BZB8	CPEB1_HUMAN	Homo sapiens cytoplasmic polyadenylation element binding protein 1 (CPEB1), transcript variant 2, mRNA.	21					mRNA processing|regulation of translation	cell junction|cytoplasmic mRNA processing body|dendrite|postsynaptic density|postsynaptic membrane	RNA binding|nucleotide binding			breast(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(1)|skin(1)	28			BRCA - Breast invasive adenocarcinoma(143;0.229)			GAGAGCAGGTGCTTCCTGGTT	0.403000														28			13		0	0	1	0	0
PRR12	57479	broad.mit.edu	37	19	50098071	50098071	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:50098071G>A	uc002poo.4	+	3	479	c.479G>A	c.(478-480)cGc>cAc	p.R160H		NM_020719	NP_065770	Q9ULL5	PRR12_HUMAN	Homo sapiens proline rich 12 (PRR12), mRNA.	573	Pro-rich.						DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		TTCGGCAGCCGCCCCTTCCCA	0.662000														8			7		0	0	1	0	0
MLH1	4292	broad.mit.edu	37	3	37056036	37056036	+	Splice_Site	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:37056036G>A	uc003cgl.3	+	9	988	c.790_splice	c.e9+1	p.H264_splice	MLH1_uc011aye.2_Splice_Site_p.H23_splice|MLH1_uc011ayb.2_Splice_Site_p.H23_splice|MLH1_uc010hge.3_Splice_Site_p.H264_splice|MLH1_uc011ayc.2_Splice_Site_p.H166_splice|MLH1_uc011ayd.2_Splice_Site_p.H23_splice|MLH1_uc003cgo.3_Splice_Site_p.H23_splice|MLH1_uc003cgn.4_Splice_Site_p.H23_splice|MLH1_uc010hgg.1_Splice_Site|MLH1_uc010hgh.1_Intron|MLH1_uc010hgi.1_Splice_Site|MLH1_uc010hgj.1_Intron|MLH1_uc010hgk.3_Splice_Site|MLH1_uc010hgl.1_Splice_Site	NM_000249	NP_001161091	P40692	MLH1_HUMAN	Homo sapiens mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli) (MLH1), transcript variant 1, mRNA.	264			H -> Y (in HNPCC2).|Missing (in HNPCC2).		mismatch repair|somatic hypermutation of immunoglobulin genes	MutLalpha complex|MutLbeta complex|chiasma|synaptonemal complex	ATP binding|ATPase activity|protein binding	p.?(8)|p.0?(1)		NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						TTCATCAACCGTAAGTTAAAA	0.378000		1	"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian, CNS"""	"""colorectal, endometrial, ovarian, CNS"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome					17			8		0	0	1	0	0
PPIP5K2	23262	broad.mit.edu	37	5	102503964	102503964	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:102503964C>T	uc003kod.4	+	18	2770	c.2251C>T	c.(2251-2253)Ctt>Ttt	p.L751F	PPIP5K2_uc011cva.2_Non-coding_Transcript|PPIP5K2_uc003koe.3_Missense_Mutation_p.L751F|PPIP5K2_uc003kof.3_Missense_Mutation_p.L52F	NM_015216	NP_056031	O43314	VIP2_HUMAN	Homo sapiens diphosphoinositol pentakisphosphate kinase 2 (PPIP5K2), mRNA.	751					inositol metabolic process	cytosol	ATP binding|acid phosphatase activity|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						ATTATATAGGCTTTCGAAGGC	0.284000														77			44		0	0	1	0	0
SPEN	23013	broad.mit.edu	37	1	16260357	16260357	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:16260357C>A	uc001axk.1	+	10	7826	c.7622C>A	c.(7621-7623)cCc>cAc	p.P2541H	SPEN_uc010obp.1_Missense_Mutation_p.P2500H	NM_015001	NP_055816	Q96T58	MINT_HUMAN	Homo sapiens spen homolog, transcriptional regulator (Drosophila) (SPEN), mRNA.	2541	RID.				Notch signaling pathway|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding|protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CTCATGGACCCCAAGTATGTG	0.582000														244			32		2.08457e-15	2.62572e-15	1	1	0
IRAK3	11213	broad.mit.edu	37	12	66641677	66641677	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:66641677C>A	uc001sth.3	+	11	1619	c.1517C>A	c.(1516-1518)cCt>cAt	p.P506H	IRAK3_uc010ssy.2_Missense_Mutation_p.P445H	NM_007199	NP_009130	Q9Y616	IRAK3_HUMAN	Homo sapiens interleukin-1 receptor-associated kinase 3 (IRAK3), transcript variant 1, mRNA.	506					MyD88-dependent toll-like receptor signaling pathway|interleukin-1-mediated signaling pathway|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of NF-kappaB transcription factor activity|positive regulation of macrophage tolerance induction|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(28;0.0203)		CAGAAAACTCCTTTTGAATGC	0.418000														73			38		1.42033e-22	1.84543e-22	1	1	0
CEP350	9857	broad.mit.edu	37	1	179989222	179989222	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:179989222G>A	uc001gnt.3	+	11	2696	c.2313G>A	c.(2311-2313)ttG>ttA	p.L771L	CEP350_uc009wxl.2_Silent_p.L770L|CEP350_uc001gnu.3_Silent_p.L605L	NM_014810	NP_055625	Q5VT06	CE350_HUMAN	Homo sapiens centrosomal protein 350kDa (CEP350), mRNA.	771						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						TAGGAATTTTGCATAAGGATT	0.413000														80			58		0	0	1	0	0
KIR2DL2	3803	broad.mit.edu	37	GL000209.1	66845	66845	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrGL000209.1:66845C>T	uc010evd.3	+	6	1098	c.939C>T	c.(937-939)caC>caT	p.H313H	KIR2DL2_uc002qtt.2_Intron|KIR2DL2_uc002qtv.3_Silent_p.H269H|KIR2DL2_uc010yic.2_Intron|KIR2DL2_uc002qty.3_Intron|KIR2DL2_uc002quc.4_Intron|KIR2DL2_uc002qud.4_Intron|KIR2DL2_uc002quh.4_Intron|KIR2DL2_uc002que.4_Intron|KIR2DL2_uc002quf.4_Intron|KIR2DL2_uc010eve.3_Intron|KIR2DL2_uc002qug.4_Intron|KIR2DL2_uc010evf.3_Non-coding_Transcript	NM_001080772	NP_001074241	P43627	KI2L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4 (KIR2DL4), transcript variant 2, mRNA.	0					regulation of immune response	integral to membrane|plasma membrane	receptor activity										GTAAGCCTCACGAAGCAGAGG	0.542000														10			6		0	0	1	0	0
OPLAH	26873	broad.mit.edu	37	8	145111623	145111623	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:145111623C>T	uc003zar.3	-	12	1824	c.1742G>A	c.(1741-1743)cGc>cAc	p.R581H	OPLAH_uc003zas.1_5'Flank	NM_017570	NP_060040	O14841	OPLA_HUMAN	Homo sapiens 5-oxoprolinase (ATP-hydrolysing) (OPLAH), mRNA.	581							5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-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;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		L-Glutamic Acid(DB00142)	GCCCTGGTAGCGCAGGTGCAG	0.682000														12			9		0	0	1	0	0
LRRN3	54674	broad.mit.edu	37	7	110764150	110764150	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:110764150C>A	uc003vft.4	+	3	2368	c.1322C>A	c.(1321-1323)tCc>tAc	p.S441Y	IMMP2L_uc003vfq.2_Intron|IMMP2L_uc010ljr.2_Intron|IMMP2L_uc003vfr.3_Intron|LRRN3_uc003vfu.4_Missense_Mutation_p.S441Y|LRRN3_uc003vfs.4_Missense_Mutation_p.S441Y|LRRN3_uc022akc.1_Missense_Mutation_p.S441Y	NM_001099660	NP_060804	Q9H3W5	LRRN3_HUMAN	Homo sapiens leucine rich repeat neuronal 3 (LRRN3), transcript variant 1, mRNA.	441	Ig-like C2-type.					integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		AGCTATGTTTCCTTTCACTGT	0.433000														200			9		0.000673444	0.000715966	1	1	0
PIM1	5292	broad.mit.edu	37	6	37139065	37139065	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:37139065A>G	uc003onk.3	+	3	835	c.405A>G	c.(403-405)gaA>gaG	p.E135E	PIM1_uc011dtw.2_5'Flank	NM_002648	NP_002639	P11309	PIM1_HUMAN	Homo sapiens pim-1 oncogene (PIM1), transcript variant 1, mRNA.	226	Protein kinase.				cell cycle|cell proliferation|multicellular organismal development|negative regulation of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|protein autophosphorylation	cytoplasm|nucleus|plasma membrane	ATP binding|manganese ion binding|protein binding|protein serine/threonine kinase activity|transcription factor binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(17)|large_intestine(4)|lung(3)|prostate(2)|skin(2)	30			OV - Ovarian serous cystadenocarcinoma(102;0.241)		Adenosine monophosphate(DB00131)	TCATCACGGAAAGGGGAGCCC	0.632000			T	BCL6	NHL									103			17		0	0	1	0	0
HERC3	8916	broad.mit.edu	37	4	89599166	89599166	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:89599166G>A	uc003hrw.1	+	18	2243	c.2077G>A	c.(2077-2079)Gag>Aag	p.E693K	HERC3_uc011cdn.1_Missense_Mutation_p.E575K|HERC3_uc011cdo.1_Missense_Mutation_p.E137K	NM_014606	NP_055421	Q15034	HERC3_HUMAN	Homo sapiens hect domain and RLD 3 (HERC3), mRNA.	693					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasmic membrane-bounded vesicle	ubiquitin-protein ligase activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2)	45				OV - Ovarian serous cystadenocarcinoma(123;0.000319)		TCTCACCCTGGAGCCTCTGCT	0.512000														33			22		0	0	1	0	0
ZNF136	7695	broad.mit.edu	37	19	12297985	12297985	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:12297985G>A	uc002mti.3	+	3	939	c.792G>A	c.(790-792)ctG>ctA	p.L264L	ZNF136_uc010xmh.2_Silent_p.L198L	NM_003437	NP_003428	P52737	ZN136_HUMAN	Homo sapiens zinc finger protein 136 (ZNF136), mRNA.	264					negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|transcription corepressor activity|zinc ion binding			NS(1)|biliary_tract(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	18						TTCATTCTCTGAGTTCATTTC	0.393000														57			28		0	0	1	0	0
MLPH	79083	broad.mit.edu	37	2	238434343	238434343	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:238434343G>A	uc002vwt.3	+	6	1002	c.775G>A	c.(775-777)Gaa>Aaa	p.E259K	MLPH_uc002vws.3_Intron|MLPH_uc010fyt.1_Missense_Mutation_p.E259K|MLPH_uc002vwu.3_Missense_Mutation_p.E259K|MLPH_uc002vwv.3_Missense_Mutation_p.E219K|MLPH_uc002vww.3_Missense_Mutation_p.E235K|MLPH_uc002vwx.3_Missense_Mutation_p.E143K	NM_024101	NP_077006	Q9BV36	MELPH_HUMAN	Homo sapiens melanophilin (MLPH), transcript variant 1, mRNA.	259							metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Breast(86;0.000381)|Renal(207;0.000966)|Ovarian(221;0.0695)|all_hematologic(139;0.095)|all_lung(227;0.17)|Melanoma(123;0.203)		Epithelial(121;1.17e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.02e-10)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.15e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000439)|Lung(119;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0316)		CTCCCATCCGGAAGAGCAGCC	0.662000														38			19		0	0	1	0	0
SEMA4B	10509	broad.mit.edu	37	15	90770825	90770825	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:90770825G>T	uc002boy.3	+	13	2008	c.1725G>T	c.(1723-1725)aaG>aaT	p.K575N	SEMA4B_uc002boz.3_Missense_Mutation_p.K575N|SEMA4B_uc010uqd.2_Missense_Mutation_p.K413N|SEMA4B_uc002bpa.3_Missense_Mutation_p.K413N	NM_020210	NP_945119			Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4B (SEMA4B), transcript variant 1, mRNA.											NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)	12	Melanoma(11;0.00551)|Lung NSC(78;0.0125)|all_lung(78;0.0272)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			CCAGCGCCAAGGACCTTTGCA	0.597000														22			10		4.36969e-10	5.24943e-10	1	1	0
EPHA8	2046	broad.mit.edu	37	1	22902764	22902764	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:22902764G>A	uc001bfx.1	+	2	339	c.214G>A	c.(214-216)Gtt>Att	p.V72I	EPHA8_uc001bfw.3_Missense_Mutation_p.V72I	NM_020526	NP_065387	P29322	EPHA8_HUMAN	Homo sapiens EPH receptor A8 (EPHA8), transcript variant 1, mRNA.	72						integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CACGTACCAGGTTTGCAACGT	0.602000														71			34		0	0	1	0	0
ENC1	8507	broad.mit.edu	37	5	73931595	73931595	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:73931595G>A	uc003kdc.4	-	1	1847	c.716C>T	c.(715-717)gCa>gTa	p.A239V	ENC1_uc011css.2_Missense_Mutation_p.A166V|ENC1_uc021yao.1_Missense_Mutation_p.A239V	NM_003633	NP_003624	O14682	ENC1_HUMAN	Homo sapiens ectodermal-neural cortex 1 (with BTB-like domain) (ENC1), mRNA.	239					nervous system development	cytoplasm|cytoskeleton|nuclear matrix	actin binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	20		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)		TGGCAGAAGTGCCAGCCTTAC	0.488000														5			50		0	0	1	0	0
NDUFV1	4723	broad.mit.edu	37	11	67377969	67377969	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:67377969A>G	uc001omj.2	+	4	781	c.628A>G	c.(628-630)Aca>Gca	p.T210A	NDUFV1_uc010rpv.1_Missense_Mutation_p.T109A|NDUFV1_uc001omk.4_Missense_Mutation_p.T201A|NDUFV1_uc001oml.2_Missense_Mutation_p.T203A|NDUFV1_uc009yrz.1_Missense_Mutation_p.T109A|NDUFV1_uc010rpw.1_5'Flank	NM_007103	NP_009034	P49821	NDUV1_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa (NDUFV1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	210					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|FMN binding|NAD binding|NADH dehydrogenase (ubiquinone) activity|metal ion binding			breast(1)|endometrium(3)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	16					NADH(DB00157)	TGGAGAGGAGACAGCGCTCAT	0.602000														56			31		0	0	1	0	0
CNDP2	55748	broad.mit.edu	37	18	72180853	72180853	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:72180853G>A	uc002llm.2	+	7	1061	c.802G>A	c.(802-804)Gcc>Acc	p.A268T	CNDP2_uc002lln.2_Missense_Mutation_p.A184T	NM_018235	NP_060705	Q96KP4	CNDP2_HUMAN	Homo sapiens CNDP dipeptidase 2 (metallopeptidase M20 family) (CNDP2), transcript variant 1, mRNA.	268						cytoplasm	carboxypeptidase activity|metal ion binding|metallopeptidase activity|protein binding|tripeptidase activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(5)|ovary(2)|skin(2)|stomach(3)	24		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.22)		GGCCGTGGCCGCCGTCACGGA	0.597000														23			20		0	0	1	0	0
ASTL	431705	broad.mit.edu	37	2	96795662	96795662	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:96795662C>T	uc010yui.2	-	7	775	c.775G>A	c.(775-777)Gtc>Atc	p.V259I		NM_001002036	NP_001002036	Q6HA08	ASTL_HUMAN	Homo sapiens astacin-like metallo-endopeptidase (M12 family) (ASTL), mRNA.	259					proteolysis		metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						CCGATGTGGACACTGGGGGCC	0.667000														44			16		0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140994996	140994996	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:140994996G>T	uc004fbt.3	+	3	2130	c.1806G>T	c.(1804-1806)ggG>ggT	p.G602G	MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_Silent_p.G261G	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	602							protein binding	p.G602V(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					CTCCTCAGGGGGAGGACTCCA	0.582000										HNSCC(15;0.026)				233			158		5.91039e-102	7.89169e-102	1	1	0
AFTPH	54812	broad.mit.edu	37	2	64779246	64779246	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:64779246G>T	uc002sdc.3	+	0	670	c.638G>T	c.(637-639)aGc>aTc	p.S213I	AFTPH_uc002scz.3_Missense_Mutation_p.S213I|AFTPH_uc002sda.3_Missense_Mutation_p.S213I|AFTPH_uc002sdb.3_Missense_Mutation_p.S213I	NM_203437	NP_982261	Q6ULP2	AFTIN_HUMAN	Homo sapiens aftiphilin (AFTPH), transcript variant 1, mRNA.	213					protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						AAGCCTCTTAGCACTCATAGC	0.403000														68			6		0.00307968	0.00322291	1	1	0
VPS13B	157680	broad.mit.edu	37	8	100286531	100286531	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:100286531G>A	uc003yiv.3	+	17	2732	c.2621G>A	c.(2620-2622)gGa>gAa	p.G874E	VPS13B_uc003yiw.3_Missense_Mutation_p.G874E|VPS13B_uc003yiu.1_Missense_Mutation_p.G874E|VPS13B_uc003yix.1_Missense_Mutation_p.G345E	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA.	874					protein transport			p.M873R(1)		NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			GGGACCATGGGATCAATAAAA	0.448000														63			23		0	0	1	0	0
BLCAP	10904	broad.mit.edu	37	20	36147459	36147459	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:36147459G>A	uc021wdg.1	-	0	118	c.118C>T	c.(118-120)Cgg>Tgg	p.R40W	BLCAP_uc021wde.1_Missense_Mutation_p.R40W|BLCAP_uc021wdf.1_Missense_Mutation_p.R40W|BLCAP_uc002xhb.3_Missense_Mutation_p.R40W|BLCAP_uc002xha.3_Missense_Mutation_p.R40W|BLCAP_uc002xhc.3_Missense_Mutation_p.R40W|NNAT_uc002xhd.3_5'Flank|NNAT_uc002xhe.3_5'Flank	NM_006698	NP_006689	P62952	BLCAP_HUMAN	Homo sapiens bladder cancer associated protein (BLCAP), transcript variant 1, mRNA.	40					apoptosis|cell cycle	integral to membrane		p.R40W(2)|p.R40R(1)		breast(1)|large_intestine(1)|lung(2)|stomach(1)	5		Myeloproliferative disorder(115;0.00878)				CAAGGCTTCCGTTCCAGGAGG	0.567000														16			14		0	0	1	0	0
MMP15	4324	broad.mit.edu	37	16	58076166	58076166	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:58076166G>A	uc002ena.3	+	6	2169	c.1196G>A	c.(1195-1197)cGc>cAc	p.R399H		NM_002428	NP_002419	P51511	MMP15_HUMAN	Homo sapiens matrix metallopeptidase 15 (membrane-inserted) (MMP15), mRNA.	399	Hemopexin-like 1.				protein modification process|proteolysis	extracellular matrix|integral to plasma membrane	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|protein binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	18						CGGCACAACCGCGTCCTGGAC	0.637000														32			15		0	0	1	0	0
MID1	4281	broad.mit.edu	37	X	10442852	10442852	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:10442852G>T	uc004cta.4	-	0	350	c.220C>A	c.(220-222)Cta>Ata	p.L74I	MID1_uc004ctd.4_Intron|MID1_uc004cte.4_Intron|MID1_uc004ctg.4_Intron|MID1_uc004cth.4_Intron|MID1_uc004ctk.4_Intron|MID1_uc004ctj.4_Intron|MID1_uc004cti.4_Intron|MID1_uc011mie.1_Intron|MID1_uc004ctm.2_Intron|MID1_uc004ctn.2_Intron|MID1_uc004cto.2_Intron|MID1_uc010ndw.1_Intron|MID1_uc004cts.1_Intron|MID1_uc004csz.4_Intron|MID1_uc004ctb.4_Intron|MID1_uc004ctc.4_Intron|MID1_uc004ctl.2_Missense_Mutation_p.L74I|MID1_uc004ctp.1_Intron|MID1_uc004ctq.1_Intron|MID1_uc004ctr.1_Intron|MID1_uc010ndu.1_Intron|MID1_uc010ndv.1_Intron	NM_033289	NP_150631	O15344	TRI18_HUMAN	Homo sapiens midline 1 (Opitz/BBB syndrome) (MID1), transcript variant 5, mRNA.	0					microtubule cytoskeleton organization|pattern specification process|positive regulation of stress-activated MAPK cascade	cytoplasm|microtubule|microtubule associated complex|spindle	ligase activity|ubiquitin protein ligase binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	26						TCACTGCATAGAAATGAAAAA	0.333000														35			10		2.17888e-05	2.40634e-05	1	1	0
CCT3	7203	broad.mit.edu	37	1	156287301	156287301	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:156287301C>T	uc001fol.2	-	8	1028	c.797G>A	c.(796-798)cGa>cAa	p.R266Q	CCT3_uc010phj.2_Missense_Mutation_p.R220Q|CCT3_uc010phk.2_Missense_Mutation_p.R220Q|CCT3_uc001fon.2_Missense_Mutation_p.R228Q|CCT3_uc010phl.2_Missense_Mutation_p.R220Q	NM_005998	NP_005989	P49368	TCPG_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 3 (gamma) (CCT3), transcript variant 1, mRNA.	266					'de novo' posttranslational protein folding	cytoskeleton|cytosol|plasma membrane	ATP binding|unfolded protein binding	p.R266R(1)		endometrium(4)|large_intestine(1)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					CTGGAGAATTCGGGTGAAGTC	0.473000														184			29		0	0	1	0	0
PTPN7	5778	broad.mit.edu	37	1	202128442	202128442	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:202128442G>A	uc001gxn.2	-	1	1185	c.89C>T	c.(88-90)aCg>aTg	p.T30M	PTPN7_uc001gxl.2_Missense_Mutation_p.T69M|PTPN7_uc001gxm.2_Missense_Mutation_p.T135M|PTPN7_uc010ppx.2_Missense_Mutation_p.T104M|PTPN7_uc010ppw.2_5'UTR|PTPN7_uc010ppy.2_Non-coding_Transcript|PTPN7_uc001gxo.1_5'Flank	NM_002832	NP_002823	P35236	PTN7_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 7 (PTPN7), transcript variant 1, mRNA.	30						cytosol|internal side of plasma membrane	protein binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)|soft_tissue(1)|urinary_tract(1)	13						CTTGGCTGGCGTTTTTTCAGG	0.637000														28			26		0	0	1	0	0
TXNDC16	57544	broad.mit.edu	37	14	53003474	53003474	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:53003474A>C	uc001wzs.3	-	5	804	c.355T>G	c.(355-357)Ttg>Gtg	p.L119V	TXNDC16_uc010tqu.2_Missense_Mutation_p.L119V|TXNDC16_uc010aoe.3_Non-coding_Transcript	NM_020784	NP_065835	Q9P2K2	TXD16_HUMAN	Homo sapiens thioredoxin domain containing 16 (TXNDC16), transcript variant 1, mRNA.	119					cell redox homeostasis	extracellular region				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21	Breast(41;0.0716)					ACATCAAACAAGGTGTCAGTA	0.308000														11			6		0	0	1	0	0
SEL1L2	80343	broad.mit.edu	37	20	13868588	13868588	+	Splice_Site	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:13868588C>A	uc010gcf.3	-	7	745	c.663_splice	c.e7+1	p.L221_splice	SEL1L2_uc002woq.4_Splice_Site_p.L82_splice|SEL1L2_uc010zrl.2_Splice_Site_p.L221_splice|SEL1L2_uc002wor.3_Splice_Site	NM_025229	NP_079505	Q5TEA6	SE1L2_HUMAN	Homo sapiens sel-1 suppressor of lin-12-like 2 (C. elegans) (SEL1L2), mRNA.	221						integral to membrane	binding	p.L221L(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						GTTTACAAACCAAAATCATCT	0.358000														52			7		0.00307968	0.00322291	1	1	0
ATAD3B	83858	broad.mit.edu	37	1	1424620	1424620	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:1424620G>A	uc001afv.3	+	12	1404	c.1303G>A	c.(1303-1305)Gcc>Acc	p.A435T	ATAD3B_uc021oeq.1_Missense_Mutation_p.A65T|ATAD3B_uc001afx.3_Missense_Mutation_p.A389T	NM_031921	NP_114127	Q5T9A4	ATD3B_HUMAN	Homo sapiens ATPase family, AAA domain containing 3B (ATAD3B), nuclear gene encoding mitochondrial protein, mRNA.	435							ATP binding|nucleoside-triphosphatase activity			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)|urinary_tract(1)	10	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CACACTGAACGCCTTCCTGTA	0.597000														46			24		0	0	1	0	0
MFAP5	8076	broad.mit.edu	37	12	8803149	8803149	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:8803149T>C	uc001qut.1	-	7	497	c.284A>G	c.(283-285)tAc>tGc	p.Y95C	MFAP5_uc001qus.2_Missense_Mutation_p.Y85C|MFAP5_uc009zge.1_Missense_Mutation_p.Y70C	NM_003480	NP_003471	Q13361	MFAP5_HUMAN	Homo sapiens microfibrillar associated protein 5 (MFAP5), mRNA.	95						microfibril	extracellular matrix structural constituent			breast(1)|endometrium(2)|large_intestine(4)|lung(5)|skin(1)	13	Lung SC(5;0.184)					ATGCACAGAGTAGAGCCTTGT	0.433000														26			14		0	0	1	0	0
C1orf168	199920	broad.mit.edu	37	1	57233502	57233502	+	Splice_Site	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:57233502G>A	uc001cym.4	-	5	1469	c.1063_splice	c.e5+1	p.P355_splice	C1orf168_uc009vzu.1_Splice_Site	NM_001004303	NP_001004303	Q5VWT5	CA168_HUMAN	Homo sapiens chromosome 1 open reading frame 168 (C1orf168), mRNA.	355										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						GCAGACTTACGATCAGCAATT	0.363000														59			24		0	0	1	0	0
MTRR	4552	broad.mit.edu	37	5	7878150	7878150	+	Silent	SNP	C	T	T	rs139333376	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:7878150C>T	uc003jed.3	+	4	606	c.576C>T	c.(574-576)ggC>ggT	p.G192G	MTRR_uc010itn.1_Non-coding_Transcript|MTRR_uc003jee.4_Silent_p.G165G|MTRR_uc003jef.4_Non-coding_Transcript|MTRR_uc003jeg.4_Non-coding_Transcript|MTRR_uc010ito.3_Non-coding_Transcript	NM_024010	NP_076915	Q9UBK8	MTRR_HUMAN	Homo sapiens 5-methyltetrahydrofolate-homocysteine methyltransferase reductase (MTRR), transcript variant 2, mRNA.	192					methionine biosynthetic process	cytosol	FMN binding|NADP binding|[methionine synthase] reductase activity|flavin adenine dinucleotide binding|iron ion binding	p.G192G(2)		NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(14)|ovary(1)|prostate(3)|stomach(1)	31					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)	AGATAAGTGGCGCACTCCCGG	0.507000														29			21		0	0	1	0	0
C18orf54	162681	broad.mit.edu	37	18	51889146	51889146	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:51889146A>G	uc002lfo.4	+	2	1124	c.1078A>G	c.(1078-1080)Aaa>Gaa	p.K360E	C18orf54_uc002lfn.4_Missense_Mutation_p.K199E	NM_173529	NP_775800	Q8IYD9	CR054_HUMAN	Homo sapiens chromosome 18 open reading frame 54 (C18orf54), mRNA.	199						extracellular region				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	15				Colorectal(16;0.0206)|READ - Rectum adenocarcinoma(59;0.186)		ATTAGGTGACAAAATTGAATT	0.333000														28			5		0	0	1	0	0
SPEG	10290	broad.mit.edu	37	2	220349114	220349114	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:220349114C>T	uc010fwg.3	+	29	6929	c.6929C>T	c.(6928-6930)cCc>cTc	p.P2310L		NM_005876	NP_005867	Q15772	SPEG_HUMAN	Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA.	2310	Pro-rich.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		GCCCGAGTTCCCACGGTGCCC	0.682000														7			6		0	0	1	0	0
GALNT8	26290	broad.mit.edu	37	12	4872542	4872542	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:4872542G>A	uc001qne.1	+	7	1575	c.1483G>A	c.(1483-1485)Gtg>Atg	p.V495M		NM_017417	NP_059113	Q9NY28	GALT8_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8) (GALNT8), mRNA.	495						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.I494I(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						CCACACCATCGTGGGCTATGG	0.418000														73			55		0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38618220	38618220	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:38618220G>A	uc021wvo.1	-	17	3495	c.3443C>T	c.(3442-3444)gCt>gTt	p.A1148V	SCN5A_uc021wvk.1_Missense_Mutation_p.A1147V|SCN5A_uc021wvl.1_Missense_Mutation_p.A1094V|SCN5A_uc021wvm.1_Missense_Mutation_p.A1148V|SCN5A_uc021wvn.1_Missense_Mutation_p.A1147V|SCN5A_uc021wvp.1_Missense_Mutation_p.A1148V|SCN5A_uc021wvq.1_Missense_Mutation_p.A1147V|SCN5A_uc021wvr.1_Missense_Mutation_p.A1148V|SCN5A_uc021wvs.1_Missense_Mutation_p.A1148V|SCN5A_uc021wvt.1_Missense_Mutation_p.A1147V|SCN5A_uc021wvu.1_Missense_Mutation_p.A1094V|SCN5A_uc021wvv.1_Missense_Mutation_p.A1148V|SCN5A_uc021wvj.1_Missense_Mutation_p.A960V|SCN5A_uc021wvi.1_Missense_Mutation_p.A1014V|SCN5A_uc021wvw.1_Missense_Mutation_p.A758V	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	1148					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	CAGGAGCTCAGCGGTGTTGGT	0.622000														10			10		0	0	1	0	0
CD7	924	broad.mit.edu	37	17	80274543	80274543	+	Splice_Site	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:80274543C>A	uc002kel.1	-	2	506	c.397_splice	c.e2+1	p.E133_splice	CD7_uc010din.3_Splice_Site_p.E133_splice|CD7_uc010wvk.1_Missense_Mutation_p.G133C	NM_006137	NP_006128	P09564	CD7_HUMAN	Homo sapiens CD7 molecule (CD7), mRNA.	133					T cell activation|immune response|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|membrane fraction|plasma membrane	receptor activity			endometrium(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(20;0.000675)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.249)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0667)			CATTCCCTACCTGTCACCAGG	0.657000														75			10		3.86212e-05	4.23294e-05	1	1	0
MRPS5	64969	broad.mit.edu	37	2	95756194	95756194	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:95756194C>A	uc002sub.3	-	10	1223	c.1005G>T	c.(1003-1005)aaG>aaT	p.K335N	MRPS5_uc002suc.3_Non-coding_Transcript	NM_031902	NP_114108	P82675	RT05_HUMAN	Homo sapiens mitochondrial ribosomal protein S5 (MRPS5), nuclear gene encoding mitochondrial protein, mRNA.	335					translation	mitochondrion|ribosome	RNA binding|protein binding|structural constituent of ribosome			central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						ACCCAGAGACCTTGGCATACA	0.542000														127			8		0.00448238	0.0046769	1	1	0
AKNAD1	254268	broad.mit.edu	37	1	109392171	109392171	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:109392171C>T	uc001dwa.3	-	2	1290	c.1021G>A	c.(1021-1023)Gaa>Aaa	p.E341K	AKNAD1_uc010ovb.2_Missense_Mutation_p.E48K|AKNAD1_uc001dwb.3_Non-coding_Transcript	NM_152763	NP_689976	Q5T1N1	AKND1_HUMAN	Homo sapiens AKNA domain containing 1 (AKNAD1), mRNA.	341										breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						GTGAGAAGTTCTTGGTGGATA	0.383000														66			75		0	0	1	0	0
AFAP1	60312	broad.mit.edu	37	4	7844934	7844934	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:7844934G>T	uc011bwk.1	-	4	751	c.478C>A	c.(478-480)Ctg>Atg	p.L160M	AFAP1_uc003gkg.1_Missense_Mutation_p.L160M	NM_001134647	NP_001128119	Q8N556	AFAP1_HUMAN	Homo sapiens actin filament associated protein 1 (AFAP1), transcript variant a, mRNA.	160	PH 1.					actin cytoskeleton|cytoplasm|focal adhesion	actin binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2)	32						TTCCGCAGCAGGAAGGCGCAG	0.552000														31			28		1.08312e-15	1.366e-15	1	1	0
ITGA1	3672	broad.mit.edu	37	5	52216289	52216289	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:52216289C>A	uc003jou.3	+	16	2697	c.2283C>A	c.(2281-2283)ttC>ttA	p.F761L	ITGA1_uc003jov.3_Non-coding_Transcript|ITGA1_uc003jow.3_Missense_Mutation_p.F292L	NM_181501	NP_852478	P56199	ITA1_HUMAN	Homo sapiens integrin, alpha 1 (ITGA1), mRNA.	761					axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				AGCACTCCTTCTACATGTTGG	0.348000														27			23		5.35356e-11	6.51008e-11	1	1	0
NPTX2	4885	broad.mit.edu	37	7	98256624	98256624	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:98256624C>T	uc003upl.2	+	3	1213	c.1036C>T	c.(1036-1038)Ccc>Tcc	p.P346S		NM_002523	NP_002514	P47972	NPTX2_HUMAN	Homo sapiens neuronal pentraxin II (NPTX2), mRNA.	346	Pentaxin.				synaptic transmission	extracellular region	metal ion binding|sugar binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			CCCCATCAAGCCCGGGGGCGT	0.677000														18			28		0	0	1	0	0
KIAA0564	23078	broad.mit.edu	37	13	42440107	42440107	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:42440107G>A	uc001uyj.3	-	10	1348	c.1278C>T	c.(1276-1278)agC>agT	p.S426S	KIAA0564_uc001uyk.3_Silent_p.S426S	NM_015058	NP_055873	A3KMH1	K0564_HUMAN	Homo sapiens KIAA0564 (KIAA0564), transcript variant 1, mRNA.	426						extracellular region	ATP binding|ATPase activity			endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(19)|lung(15)|ovary(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75		Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969)		GCTGCTTATGGCTCAAAGTCT	0.423000														39			43		0	0	1	0	0
KCNH2	3757	broad.mit.edu	37	7	150649611	150649611	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:150649611C>T	uc003wic.3	-	5	1860	c.1459G>A	c.(1459-1461)Ggc>Agc	p.G487S	KCNH2_uc003wib.3_Missense_Mutation_p.G147S|KCNH2_uc011kux.2_Missense_Mutation_p.G391S|KCNH2_uc003wid.3_Missense_Mutation_p.G147S|KCNH2_uc003wie.3_Missense_Mutation_p.G487S	NM_000238	NP_000229	Q12809	KCNH2_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 2 (KCNH2), transcript variant 1, mRNA.	487					blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	GCGATGCGGCCGGGGTGGCTG	0.587000														56			11		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140712311	140712311	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140712311C>T	uc003lji.2	+	0	2060	c.2060C>T	c.(2059-2061)tCg>tTg	p.S687L	PCDHGC5_uc011dan.2_Missense_Mutation_p.S687L	NM_018912	NP_061735	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 1 (PCDHGA1), transcript variant 1, mRNA.	688					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)			CCCAACGATTCGGACCTCACT	0.687000														37			16		0	0	1	0	0
RANBP2	5903	broad.mit.edu	37	2	109368449	109368449	+	Splice_Site	SNP	C	T	T	rs121434502		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:109368449C>T	uc002tem.4	+	12	1881	c.1755_splice	c.e12+1	p.T585_splice		NM_006267	NP_006258	P49792	RBP2_HUMAN	Homo sapiens RAN binding protein 2 (RANBP2), mRNA.	585			T -> M (associated with ANE1).		carbohydrate metabolic process|glucose transport|mRNA transport|mitotic prometaphase|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	Ran GTPase binding|peptidyl-prolyl cis-trans isomerase activity|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						CTTCAGAAAACGGTGAGTTTT	0.338000														97			37		0	0	1	0	0
FANCB	2187	broad.mit.edu	37	X	14868629	14868629	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:14868629C>T	uc004cwg.1	-	6	1762	c.1494G>A	c.(1492-1494)aaG>aaA	p.K498K	FANCB_uc004cwh.1_Silent_p.K498K	NM_001018113	NP_689846	Q8NB91	FANCB_HUMAN	Homo sapiens Fanconi anemia, complementation group B (FANCB), transcript variant 1, mRNA.	498					DNA repair	nucleoplasm				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24	Hepatocellular(33;0.183)					TTACTTACAGCTTCAAAGAAG	0.353000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia					105			66		0	0	1	0	0
ITPR3	3710	broad.mit.edu	37	6	33653203	33653203	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:33653203G>A	uc021ywr.1	+	39	5599	c.5375G>A	c.(5374-5376)cGc>cAc	p.R1792H		NM_002224	NP_002215	Q14573	ITPR3_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 3 (ITPR3), mRNA.	1792					G-protein coupled receptor protein signaling pathway|activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						CTGCACGACCGCATGAAGCGG	0.587000														14			6		0	0	1	0	0
KDM5A	5927	broad.mit.edu	37	12	464374	464374	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:464374C>T	uc001qif.1	-	6	1183	c.820G>A	c.(820-822)Gca>Aca	p.A274T	KDM5A_uc010sdn.1_Missense_Mutation_p.A233T|KDM5A_uc010sdo.1_Intron	NM_001042603	NP_001036068	P29375	KDM5A_HUMAN	Homo sapiens lysine (K)-specific demethylase 5A (KDM5A), mRNA.	274					chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						ATGTTAAATGCGTCTGACCTG	0.373000			T	NUP98	AML									50			25		0	0	1	0	0
NIPBL	25836	broad.mit.edu	37	5	37008826	37008826	+	Splice_Site	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:37008826G>T	uc003jkl.4	+	20	4920	c.4421_splice	c.e20+1	p.R1474_splice	NIPBL_uc003jkk.4_Splice_Site_p.R1474_splice	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	Homo sapiens Nipped-B homolog (Drosophila) (NIPBL), transcript variant A, mRNA.	1474					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			GGAACTTCAGGTAATTAATTA	0.289000														65			27		1.39806e-14	1.75303e-14	1	1	0
SLC35F4	341880	broad.mit.edu	37	14	58056155	58056155	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:58056155C>T	uc021rtp.1	-	2	412	c.363G>A	c.(361-363)acG>acA	p.T121T	SLC35F4_uc010aoz.1_Non-coding_Transcript|SLC35F4_uc010apa.1_5'UTR	NM_001206920	NP_001193849			Homo sapiens solute carrier family 35, member F4 (SLC35F4), mRNA.											breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GAACCATGGACGTGCAGGACA	0.443000														23			4		0	0	1	0	0
RABGAP1	23637	broad.mit.edu	37	9	125751629	125751629	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:125751629T>G	uc011lzh.2	+	4	778	c.644T>G	c.(643-645)aTc>aGc	p.I215S	RABGAP1_uc004bnl.4_Non-coding_Transcript|RABGAP1_uc004bnm.1_Missense_Mutation_p.I215S	NM_012197	NP_036329	Q9Y3P9	RBGP1_HUMAN	Homo sapiens RAB GTPase activating protein 1 (RABGAP1), mRNA.	215	PID.				cell cycle	centrosome|cytosol|microtubule associated complex	Rab GTPase activator activity|tubulin binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						ATCTACAAAATCCTCTTCTGT	0.393000														102			12		0	0	1	0	0
OR52R1	119695	broad.mit.edu	37	11	4825600	4825600	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:4825600G>A	uc021qcs.1	-	0	11	c.11C>T	c.(10-12)gCt>gTt	p.A4V		NM_001005177	NP_001005177	Q8NGF1	O52R1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily R, member 1 (OR52R1), mRNA.	4					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		GTTCCCTGAAGCCAGCACCAT	0.468000														49			39		0	0	1	0	0
FAM161B	145483	broad.mit.edu	37	14	74413270	74413270	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:74413270T>C	uc001xpd.2	-	1	481	c.93A>G	c.(91-93)ggA>ggG	p.G31G		NM_152445	NP_689658			Homo sapiens family with sequence similarity 161, member B (FAM161B), mRNA.									p.A30E(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)	21						ACAGCTCCTCTCCTGCCTCTG	0.473000														106			22		0	0	1	0	0
SLITRK3	22865	broad.mit.edu	37	3	164905746	164905746	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:164905746G>A	uc003fej.4	-	1	3317	c.2873C>T	c.(2872-2874)gCc>gTc	p.A958V	SLITRK3_uc003fek.3_Missense_Mutation_p.A958V|SLITRK3_uc021xgy.1_Missense_Mutation_p.A958V	NM_014926	NP_055741	O94933	SLIK3_HUMAN	Homo sapiens SLIT and NTRK-like family, member 3 (SLITRK3), mRNA.	958						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						TTGAAGTTTGGCCCTTAACTC	0.428000										HNSCC(40;0.11)				181			15		0	0	1	0	0
MEIS3P1	4213	broad.mit.edu	37	17	15690394	15690394	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:15690394C>T	uc002gpc.3	+	0	231	c.210C>T	c.(208-210)atC>atT	p.I70I						Homo sapiens Meis homeobox 3 pseudogene 1 (MEIS3P1), non-coding RNA.																		AGATGCCCATCGACCTGGTCA	0.562000														5			3		0	0	1	0	0
HELZ	9931	broad.mit.edu	37	17	65082989	65082989	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:65082989G>A	uc010wqk.2	-	31	5640	c.5453C>T	c.(5452-5454)cCg>cTg	p.P1818L	HELZ_uc002jfv.4_Non-coding_Transcript|HELZ_uc002jfx.4_Missense_Mutation_p.P1817L	NM_014877	NP_055692			Homo sapiens helicase with zinc finger (HELZ), mRNA.											NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					TCCATTGCACGGAATGTTCTG	0.473000														69			38		0	0	1	0	0
DAPK1	1612	broad.mit.edu	37	9	90315107	90315107	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:90315107G>T	uc004apc.3	+	23	2964	c.2826G>T	c.(2824-2826)aaG>aaT	p.K942N	DAPK1_uc004apd.3_Missense_Mutation_p.K942N|DAPK1_uc011ltg.2_Missense_Mutation_p.K876N|DAPK1_uc011lth.2_Missense_Mutation_p.K679N	NM_004938	NP_004929	P53355	DAPK1_HUMAN	Homo sapiens death-associated protein kinase 1 (DAPK1), mRNA.	942					apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						AGGACATGAAGGTACTTCGAA	0.463000									Chronic Lymphocytic Leukemia, Familial Clustering of					81			35		4.3181e-19	5.55175e-19	1	1	0
CAPNS2	84290	broad.mit.edu	37	16	55601250	55601250	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:55601250C>T	uc002eid.1	+	0	667	c.582C>T	c.(580-582)gtC>gtT	p.V194V	LPCAT2_uc002eie.4_Intron|LPCAT2_uc002eic.3_Intron	NM_032330	NP_115706	Q96L46	CPNS2_HUMAN	Homo sapiens calpain, small subunit 2 (CAPNS2), mRNA.	194	EF-hand 3.					cytoplasm|plasma membrane	calcium ion binding			central_nervous_system(1)|large_intestine(1)|lung(3)|prostate(2)	7						AAATGATTGTCCGCCGGTATG	0.493000														105			90		0	0	1	0	0
INTS3	65123	broad.mit.edu	37	1	153719517	153719517	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:153719517C>A	uc009wom.3	+	4	624	c.403C>A	c.(403-405)Ctg>Atg	p.L135M	INTS3_uc001fct.3_Missense_Mutation_p.L135M|INTS3_uc001fcu.3_5'UTR|INTS3_uc001fcv.3_5'UTR	NM_023015	NP_075391	Q68E01	INT3_HUMAN	Homo sapiens integrator complex subunit 3 (INTS3), mRNA.	135					DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing	SOSS complex|integrator complex	protein binding			breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GGAGAAGTACCTGAAGCTGCA	0.458000														36			35		3.33393e-15	4.19542e-15	1	1	0
USP9X	8239	broad.mit.edu	37	X	41091710	41091710	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:41091710G>A	uc004dfb.3	+	44	8279	c.7646G>A	c.(7645-7647)gGc>gAc	p.G2549D	USP9X_uc004dfc.3_Missense_Mutation_p.G2533D	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN	Homo sapiens ubiquitin specific peptidase 9, X-linked (USP9X), transcript variant 3, mRNA.	2549					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						CAGAGAACTGGCCAACGAGCA	0.433000														32			18		0	0	1	0	0
FBXW8	26259	broad.mit.edu	37	12	117461972	117461972	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:117461972G>A	uc001twg.1	+	8	1470	c.1388G>A	c.(1387-1389)cGc>cAc	p.R463H	FBXW8_uc001twf.1_Missense_Mutation_p.R397H	NM_153348	NP_699179	Q8N3Y1	FBXW8_HUMAN	Homo sapiens F-box and WD repeat domain containing 8 (FBXW8), transcript variant 1, mRNA.	463							protein binding			endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	22	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0353)		CACGACCTCCGCAGTGGTAAC	0.582000														39			4		0	0	1	0	0
FBXL3	26224	broad.mit.edu	37	13	77581815	77581815	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:77581815C>T	uc001vkd.3	-	4	1123	c.752G>A	c.(751-753)cGa>cAa	p.R251Q		NM_012158	NP_036290	Q9UKT7	FBXL3_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 3 (FBXL3), mRNA.	251					SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|regulation of circadian rhythm|rhythmic process	SCF ubiquitin ligase complex|cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity	p.V250A(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|urinary_tract(1)	16		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.218)		GBM - Glioblastoma multiforme(99;0.0521)		ATGTTCTAATCGAACATGTTT	0.418000														61			7		0	0	1	0	0
BNC1	646	broad.mit.edu	37	15	83926455	83926455	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:83926455G>T	uc002bjt.1	-	4	2812	c.2724C>A	c.(2722-2724)atC>atA	p.I908I	BNC1_uc010uos.1_Silent_p.I896I	NM_001717	NP_001708	Q01954	BNC1_HUMAN	Homo sapiens basonuclin 1 (BNC1), mRNA.	908					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P907T(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						TCAGGACACAGATGGGGTACT	0.537000														235			11		1.58986e-06	1.80238e-06	1	1	0
PDE4C	5143	broad.mit.edu	37	19	18331255	18331255	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:18331255C>T	uc010xqc.2	-	5	1146	c.666G>A	c.(664-666)acG>acA	p.T222T	PDE4C_uc002nik.4_Silent_p.T222T|PDE4C_uc002nil.4_Silent_p.T222T|PDE4C_uc002nig.4_Intron|PDE4C_uc002nih.4_Intron|PDE4C_uc010ebk.3_Silent_p.T116T|PDE4C_uc002nii.4_Silent_p.T190T|PDE4C_uc002nif.4_5'UTR|PDE4C_uc010ebl.3_5'UTR|PDE4C_uc010ebm.1_Non-coding_Transcript|PDE4C_uc002nim.1_Missense_Mutation_p.A206T	NM_001098819	NP_001092289	Q08493	PDE4C_HUMAN	Homo sapiens phosphodiesterase 4C, cAMP-specific (PDE4C), transcript variant 2, mRNA.	222					signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Dyphylline(DB00651)	GGGTCTGCAGCGTCTCCAACT	0.662000														30			8		0	0	1	0	0
ZNF883	169834	broad.mit.edu	37	9	115760310	115760310	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:115760310G>A	uc011lwy.2	-	4	1469	c.230C>T	c.(229-231)gCt>gTt	p.A77V		NM_001101338	NP_001094808	P0CG24	ZN883_HUMAN	Homo sapiens zinc finger protein 883 (ZNF883), mRNA.	77					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding										CTGACTAAAAGCTTTCCCACA	0.358000														27			13		0	0	1	0	0
RBMXL1	494115	broad.mit.edu	37	1	89448840	89448840	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:89448840C>A	uc021opo.1	-	0	670	c.670G>T	c.(670-672)Gat>Tat	p.D224Y	CCBL2_uc001dmp.2_Intron|CCBL2_uc001dmq.2_Intron|CCBL2_uc001dmr.2_Intron|RBMXL1_uc009wcx.3_Missense_Mutation_p.D224Y|RBMXL1_uc001dms.3_Missense_Mutation_p.D224Y	NM_019610	NP_062556	Q96E39	RBMXL_HUMAN	Homo sapiens RNA binding motif protein, X-linked-like 1 (RBMXL1), transcript variant 2, mRNA.	224							RNA binding|nucleotide binding										CTTGGGTAATCTCTGCTTGAA	0.453000														132			49		2.24722e-20	2.9016e-20	1	1	0
LY6G5C	80741	broad.mit.edu	37	6	31646976	31646976	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31646976C>T	uc003nvu.2	-	1	191	c.191G>A	c.(190-192)cGa>cAa	p.R64Q	LY6G5C_uc003nvw.1_Non-coding_Transcript|LY6G5C_uc010jtb.1_Non-coding_Transcript	NM_025262	NP_079538	Q5SRR4	LY65C_HUMAN	Homo sapiens lymphocyte antigen 6 complex, locus G5C (LY6G5C), mRNA.	64	UPAR/Ly6.					extracellular region				endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	7						CAAGAGGCATCGGTAGCAGCG	0.527000														92			55		0	0	1	0	0
SLC26A1	10861	broad.mit.edu	37	4	983003	983003	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:983003T>C	uc003gcb.3	-	3	2102	c.1724A>G	c.(1723-1725)gAg>gGg	p.E575G	SLC26A1_uc003gbx.3_Intron|IDUA_uc003gby.3_Intron|IDUA_uc003gbz.3_Intron|IDUA_uc003gca.3_Intron|SLC26A1_uc003gcc.3_Missense_Mutation_p.E575G	NM_213613	NP_998778	Q9H2B4	S26A1_HUMAN	Homo sapiens solute carrier family 26 (sulfate transporter), member 1 (SLC26A1), transcript variant 3, mRNA.	575	STAS.					integral to membrane|plasma membrane	secondary active sulfate transmembrane transporter activity			central_nervous_system(1)|endometrium(4)|pancreas(1)|prostate(1)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			TGAGCCCCCCTCCTTCCTCCT	0.692000														9			5		0	0	1	0	0
HERC5	51191	broad.mit.edu	37	4	89425652	89425652	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:89425652C>T	uc003hrt.3	+	21	2926	c.2773C>T	c.(2773-2775)Cgt>Tgt	p.R925C	HERC5_uc011cdm.2_Missense_Mutation_p.R563C	NM_016323	NP_057407	Q9UII4	HERC5_HUMAN	Homo sapiens hect domain and RLD 5 (HERC5), mRNA.	925	HECT.				ISG15-protein conjugation|innate immune response|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus	cytosol|perinuclear region of cytoplasm	ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity			NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4)	53		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		CTAGAATGCACGTTATGAACC	0.323000														28			16		0	0	1	0	0
RNF122	79845	broad.mit.edu	37	8	33406360	33406360	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:33406360G>A	uc003xjo.1	-	5	781	c.379C>T	c.(379-381)Cgc>Tgc	p.R127C		NM_024787	NP_079063	Q9H9V4	RN122_HUMAN	Homo sapiens ring finger protein 122 (RNF122), mRNA.	127						Golgi apparatus|endoplasmic reticulum|integral to membrane	zinc ion binding	p.R127C(2)		endometrium(2)|large_intestine(3)|ovary(1)|upper_aerodigestive_tract(1)	7				KIRC - Kidney renal clear cell carcinoma(67;0.0966)|Kidney(114;0.116)		CAGACACAGCGAACTTCCAGC	0.498000														55			54		0	0	1	0	0
YLPM1	56252	broad.mit.edu	37	14	75265633	75265633	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:75265633T>C	uc001xqj.4	+	4	3757	c.3633T>C	c.(3631-3633)gcT>gcC	p.A1211A	YLPM1_uc001xql.4_Non-coding_Transcript	NM_019589	NP_062535	P49750	YLPM1_HUMAN	Homo sapiens YLP motif containing 1 (YLPM1), mRNA.	1016					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		GTAGAAATGCTCCAATGGAAC	0.448000														23			3		0	0	1	0	0
ZNF503	84858	broad.mit.edu	37	10	77158794	77158794	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:77158794G>T	uc001jxg.3	-	1	1990	c.1654C>A	c.(1654-1656)Ctg>Atg	p.L552M	ZNF503-AS2_uc010qlf.2_5'Flank	NM_032772	NP_116161	Q96F45	ZN503_HUMAN	Homo sapiens zinc finger protein 503 (ZNF503), mRNA.	552					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			lung(4)|ovary(1)|skin(1)	6	all_cancers(46;0.105)|all_epithelial(25;0.00449)|Prostate(51;0.0112)|Ovarian(15;0.088)					TAGCCCGACAGCAGTTTGTCT	0.687000														9			15		3.32936e-07	3.81974e-07	1	1	0
JUP	3728	broad.mit.edu	37	17	39928078	39928078	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:39928078G>T	uc002hxq.2	-	1	306	c.29C>A	c.(28-30)cCt>cAt	p.P10H	JUP_uc010wfs.2_Missense_Mutation_p.P10H|JUP_uc002hxr.2_Missense_Mutation_p.P10H|JUP_uc002hxs.2_Missense_Mutation_p.P10H	NM_021991	NP_068831	P14923	PLAK_HUMAN	Homo sapiens junction plakoglobin (JUP), transcript variant 2, mRNA.	10					adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of Wnt receptor signaling pathway involved in heart development|negative regulation of heart induction by canonical Wnt receptor signaling pathway|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	Axin-APC-beta-catenin-GSK3B complex|Z disc|actin cytoskeleton|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|zonula adherens	RPTP-like protein binding|alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		CACCTTGATAGGCTGCTCCAT	0.602000														10			4		0.000602214	0.000641151	1	1	0
HSPG2	3339	broad.mit.edu	37	1	22181426	22181426	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:22181426C>T	uc009vqd.3	-	47	6091	c.6051G>A	c.(6049-6051)acG>acA	p.T2017T	HSPG2_uc001bfj.3_Silent_p.T2016T	NM_005529	NP_005520	P98160	PGBM_HUMAN	Homo sapiens heparan sulfate proteoglycan 2 (HSPG2), mRNA.	2016	Ig-like C2-type 5.				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)	CGTCAGCAGTCGTGATGGCTG	0.652000														20			13		0	0	1	0	0
LPHN2	23266	broad.mit.edu	37	1	82421735	82421735	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:82421735G>A	uc001dit.4	+	9	2138	c.1957G>A	c.(1957-1959)Gaa>Aaa	p.E653K	LPHN2_uc001dis.3_Intron|LPHN2_uc001diu.3_Missense_Mutation_p.E653K|LPHN2_uc001div.3_Missense_Mutation_p.E653K|LPHN2_uc009wcd.3_Missense_Mutation_p.E653K|LPHN2_uc001diw.3_Missense_Mutation_p.E237K	NM_012302	NP_036434	O95490	LPHN2_HUMAN	Homo sapiens latrophilin 2 (LPHN2), mRNA.	666					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		AATGCCCACAGAAAATATTGG	0.358000														54			22		0	0	1	0	0
PLK2	10769	broad.mit.edu	37	5	57751887	57751887	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:57751887T>C	uc003jrn.3	-	9	1530	c.1350A>G	c.(1348-1350)agA>agG	p.R450R	PLK2_uc021xyx.1_Silent_p.R436R	NM_006622	NP_006613	Q9NYY3	PLK2_HUMAN	Homo sapiens polo-like kinase 2 (PLK2), transcript variant 1, mRNA.	450					positive regulation of I-kappaB kinase/NF-kappaB cascade		ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity			endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2)	26		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)		CAAGAGTCCCTCTGACTATCA	0.453000														50			11		0	0	1	0	0
COG2	22796	broad.mit.edu	37	1	230822730	230822730	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:230822730C>A	uc001htw.3	+	12	1581	c.1430C>A	c.(1429-1431)cCt>cAt	p.P477H	COG2_uc001htx.3_Missense_Mutation_p.P477H|COG2_uc010pwc.2_Missense_Mutation_p.P350H	NM_007357	NP_031383	Q14746	COG2_HUMAN	Homo sapiens component of oligomeric golgi complex 2 (COG2), transcript variant 1, mRNA.	477					Golgi organization|intra-Golgi vesicle-mediated transport|intracellular protein transport|oligosaccharide biosynthetic process|protein glycosylation	Golgi membrane|Golgi stack|Golgi transport complex	protein binding|protein transporter activity			NS(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|urinary_tract(3)	27	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				ATCAAGAAACCTTTGGTAACT	0.433000														25			23		4.47668e-21	5.78941e-21	1	1	0
KIDINS220	57498	broad.mit.edu	37	2	8938388	8938388	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:8938388C>A	uc002qzc.2	-	9	1125	c.943G>T	c.(943-945)Gca>Tca	p.A315S	KIDINS220_uc010yiv.1_Missense_Mutation_p.A81S|KIDINS220_uc002qzd.2_Missense_Mutation_p.A273S|KIDINS220_uc010yiw.1_Missense_Mutation_p.A316S	NM_020738	NP_065789	Q9ULH0	KDIS_HUMAN	Homo sapiens kinase D-interacting substrate, 220kDa (KIDINS220), mRNA.	315					activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					ACCATTGTTGCATTTCCTTTC	0.328000														42			18		8.34094e-07	9.49533e-07	1	1	0
DL492607	0	broad.mit.edu	37	11	113660051	113660051	+	RNA	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:113660051C>T	uc001pof.1	+	0		c.99C>T								Homo sapiens cDNA FLJ36034 fis, clone TESTI2017107, highly similar to CYCLIC-AMP-DEPENDENT TRANSCRIPTION FACTOR ATF-4.																		GTGAGAAGGTCGGAGGGGCTG	0.602000														38			16		0	0	1	0	0
SLC4A7	9497	broad.mit.edu	37	3	27475580	27475580	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:27475580T>C	uc011aww.2	-	5	826	c.605A>G	c.(604-606)aAc>aGc	p.N202S	SLC4A7_uc011awx.2_Missense_Mutation_p.N202S|SLC4A7_uc021wun.1_Missense_Mutation_p.N202S|SLC4A7_uc021wuo.1_Non-coding_Transcript|SLC4A7_uc011awy.2_Missense_Mutation_p.N198S|SLC4A7_uc011awz.2_Non-coding_Transcript|SLC4A7_uc011axa.2_Missense_Mutation_p.N198S|SLC4A7_uc011axb.2_Missense_Mutation_p.N202S|SLC4A7_uc021wul.1_Non-coding_Transcript|SLC4A7_uc011awu.2_Non-coding_Transcript|SLC4A7_uc011awv.2_Non-coding_Transcript|SLC4A7_uc021wum.1_Non-coding_Transcript|SLC4A7_uc003cdu.4_Missense_Mutation_p.N198S|SLC4A7_uc010hfm.2_Missense_Mutation_p.N198S|SLC4A7_uc003cdv.3_Missense_Mutation_p.N193S|SLC4A7_uc003cdw.3_Missense_Mutation_p.N193S	NM_003615	NP_003606	Q9Y6M7	S4A7_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 7 (SLC4A7), mRNA.	193						apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38						AGCTATCATGTTGTCTAATAC	0.338000														22			26		0	0	1	0	0
SLC18B1	116843	broad.mit.edu	37	6	133111381	133111381	+	Missense_Mutation	SNP	T	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:133111381T>A	uc003qdw.1	-	2	366	c.214A>T	c.(214-216)Atc>Ttc	p.I72F	SLC18B1_uc011eco.1_5'UTR	NM_052831	NP_439896	Q6NT16	CF192_HUMAN	Homo sapiens chromosome 6 open reading frame 192 (C6orf192), mRNA.	72					transmembrane transport	integral to membrane											ATCATACCGATAATTGTATTG	0.308000														3			4		0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38905866	38905866	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:38905866G>A	uc021yzh.1	+	77	11789	c.11680G>A	c.(11680-11682)Gct>Act	p.A3894T	DNAH8_uc003ooe.2_Missense_Mutation_p.A3677T|DNAH8_uc003oog.1_Missense_Mutation_p.A126T|LOC100131047_uc003oof.2_Intron	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GATCAACGCGGCTCAGGAGGA	0.517000														31			21		0	0	1	0	0
PIWIL1	9271	broad.mit.edu	37	12	130855859	130855859	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:130855859C>T	uc001uik.3	+	19	2731	c.2460C>T	c.(2458-2460)taC>taT	p.Y820Y	PIWIL1_uc001uij.2_Silent_p.Y820Y	NM_004764	NP_004755	Q96J94	PIWL1_HUMAN	Homo sapiens piwi-like 1 (Drosophila) (PIWIL1), transcript variant 1, mRNA.	820	Piwi.				gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	P granule|chromatoid body	mRNA binding|piRNA binding|protein binding			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		ACATCTATTACAACTGGCCAG	0.408000														47			40		0	0	1	0	0
ALMS1	7840	broad.mit.edu	37	2	73717916	73717916	+	Nonsense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:73717916G>T	uc002sje.1	+	9	8938	c.8827G>T	c.(8827-8829)Gaa>Taa	p.E2943*	ALMS1_uc002sjf.1_Nonsense_Mutation_p.E2901*|ALMS1_uc002sjg.3_Nonsense_Mutation_p.E2331*|ALMS1_uc002sjh.1_Nonsense_Mutation_p.E2331*	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Homo sapiens Alstrom syndrome 1 (ALMS1), mRNA.	2943					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						TCAAATGAGAGAAAACCATTC	0.438000														170			11		9.70103e-10	1.16071e-09	1	1	0
SEPT14	346288	broad.mit.edu	37	7	55914312	55914312	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:55914312G>A	uc003tqz.2	-	2	190	c.73C>T	c.(73-75)Cgt>Tgt	p.R25C		NM_207366	NP_997249	Q6ZU15	SEP14_HUMAN	Homo sapiens septin 14 (SEPT14), mRNA.	25					cell cycle|cell division	septin complex	GTP binding|protein binding	p.R25C(4)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GTTAAACAACGAATATTATTT	0.284000														53			28		0	0	1	0	0
PHLDB1	23187	broad.mit.edu	37	11	118526364	118526364	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:118526364G>T	uc001ptr.2	+	21	4277	c.3924G>T	c.(3922-3924)gaG>gaT	p.E1308D	PHLDB1_uc001pts.3_Missense_Mutation_p.E1308D|PHLDB1_uc001ptt.3_Missense_Mutation_p.E1261D|PHLDB1_uc001ptu.2_Non-coding_Transcript|PHLDB1_uc001ptv.2_Missense_Mutation_p.E1123D|PHLDB1_uc001ptw.2_Missense_Mutation_p.E663D|PHLDB1_uc009zai.2_Missense_Mutation_p.E344D|PHLDB1_uc001ptx.2_Missense_Mutation_p.E344D	NM_015157	NP_055972	Q86UU1	PHLB1_HUMAN	Homo sapiens pleckstrin homology-like domain, family B, member 1 (PHLDB1), transcript variant 1, mRNA.	1308	PH.									breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		AGGCCATTGAGGAAGTGTACT	0.592000														65			8		1.12685e-05	1.25391e-05	1	1	0
PHF20L1	51105	broad.mit.edu	37	8	133816941	133816941	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:133816941G>A	uc003ytt.3	+	7	1128	c.803G>A	c.(802-804)gGc>gAc	p.G268D	PHF20L1_uc003ytr.3_Missense_Mutation_p.G242D|PHF20L1_uc010mdv.3_Missense_Mutation_p.G242D|PHF20L1_uc003yts.3_Missense_Mutation_p.G268D|PHF20L1_uc011lja.2_Missense_Mutation_p.G242D|PHF20L1_uc003ytu.1_Non-coding_Transcript|PHF20L1_uc003ytv.3_Missense_Mutation_p.G107D	NM_016018	NP_057102	A8MW92	P20L1_HUMAN	Homo sapiens PHD finger protein 20-like 1 (PHF20L1), transcript variant 1, mRNA.	268							nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			AATAATCAAGGCAACTCGTTT	0.383000														59			38		0	0	1	0	0
NEUROD6	63974	broad.mit.edu	37	7	31377922	31377922	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:31377922G>A	uc003tch.3	-	1	1314	c.961C>T	c.(961-963)Cgc>Tgc	p.R321C	NEUROD6_uc022abi.1_Missense_Mutation_p.R321C	NM_022728	NP_073565	Q96NK8	NDF6_HUMAN	Homo sapiens neurogenic differentiation 6 (NEUROD6), mRNA.	321					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.R321C(2)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						GATTGGCTGCGCAGATGTAAG	0.478000														73			5		0	0	1	0	0
SNAPC4	6621	broad.mit.edu	37	9	139290161	139290161	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:139290161G>T	uc004chh.3	-	2	248	c.239C>A	c.(238-240)cCt>cAt	p.P80H		NM_003086	NP_003077	Q5SXM2	SNPC4_HUMAN	Homo sapiens small nuclear RNA activating complex, polypeptide 4, 190kDa (SNAPC4), mRNA.	80					snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		TGGGTCTTCAGGGAGGGTTTT	0.567000														200			11		0.00136819	0.00144449	1	1	0
ZNF560	147741	broad.mit.edu	37	19	9578926	9578926	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9578926T>C	uc002mlp.1	-	9	907	c.697A>G	c.(697-699)Atg>Gtg	p.M233V	ZNF560_uc010dwr.1_Missense_Mutation_p.M127V	NM_152476	NP_689689	Q96MR9	ZN560_HUMAN	Homo sapiens zinc finger protein 560 (ZNF560), mRNA.	233					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						TGAGTACTCATGTTGGTCTTA	0.378000														85			8		0	0	1	0	0
BRDT	676	broad.mit.edu	37	1	92459650	92459650	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:92459650G>A	uc001dol.4	+	15	2544	c.2126G>A	c.(2125-2127)tGt>tAt	p.C709Y	BRDT_uc010osz.2_Missense_Mutation_p.C713Y|BRDT_uc001dok.4_Missense_Mutation_p.C709Y|BRDT_uc009wdf.3_Missense_Mutation_p.C636Y|BRDT_uc010otb.2_Missense_Mutation_p.C663Y|BRDT_uc010ota.2_Missense_Mutation_p.C663Y|BRDT_uc001dom.4_Missense_Mutation_p.C709Y	NM_001242805	NP_001229734	Q58F21	BRDT_HUMAN	Homo sapiens bromodomain, testis-specific (BRDT), transcript variant 3, mRNA.	709					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		ATAGGATATTGTGTGCAAGAC	0.343000														142			8		0	0	1	0	0
CD2AP	23607	broad.mit.edu	37	6	47471062	47471062	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:47471062A>G	uc003oyw.3	+	1	507	c.51A>G	c.(49-51)gaA>gaG	p.E17E		NM_012120	NP_036252	Q9Y5K6	CD2AP_HUMAN	Homo sapiens CD2-associated protein (CD2AP), mRNA.	17	Interaction with ANLN and localization to the midbody.|SH3 1; truncated.				cell division|mitosis|protein complex assembly|signal transduction|substrate-dependent cell migration, cell extension	cytoplasm|filamentous actin|nucleolus|plasma membrane|ruffle	SH3 domain binding|structural constituent of cytoskeleton			kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	20			Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)			ATGATGATGAATTAACTATTC	0.373000														80			7		0	0	1	0	0
CLCN7	1186	broad.mit.edu	37	16	1504419	1504419	+	Silent	SNP	G	A	A	rs140154323		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:1504419G>A	uc002clv.2	-	12	1256	c.1146C>T	c.(1144-1146)ggC>ggT	p.G382G	CLCN7_uc002clw.2_Silent_p.G358G	NM_001287	NP_001278	P51798	CLCN7_HUMAN	Homo sapiens chloride channel 7 (CLCN7), transcript variant 1, mRNA.	382						integral to membrane|lysosomal membrane	ATP binding|antiporter activity|voltage-gated chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24		Hepatocellular(780;0.0893)				TACCCACCACGCCCATGGCGA	0.627000														25			10		0	0	1	0	0
RABGAP1L	9910	broad.mit.edu	37	1	174210653	174210653	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:174210653C>T	uc001gjx.3	+	4	852	c.575C>T	c.(574-576)gCa>gTa	p.A192V	RABGAP1L_uc009wwq.2_Missense_Mutation_p.A192V|RABGAP1L_uc001gjw.3_Missense_Mutation_p.A155V	NM_014857	NP_055672	Q5R372	RBG1L_HUMAN	Homo sapiens RAB GTPase activating protein 1-like (RABGAP1L), transcript variant 1, mRNA.	192	PID.				regulation of protein localization	Golgi apparatus|early endosome|nucleus	Rab GTPase activator activity			NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2)	45						GTGGAGATAGCATCTTTTCCA	0.363000														39			18		0	0	1	0	0
PSG11	5680	broad.mit.edu	37	19	43529131	43529131	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:43529131C>A	uc002ovm.1	-	1	249	c.142G>T	c.(142-144)Ggg>Tgg	p.G48W	PSG4_uc010xwk.1_Intron|PSG11_uc002ovp.1_Intron|PSG11_uc002ovo.1_Intron	NM_002785	NP_002776	Q9UQ72	PSG11_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 11 (PSG11), transcript variant 1, mRNA.	48	Ig-like V-type.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				ACATCCTTCCCCTCGGACACT	0.473000														116			80		5.42381e-49	7.22684e-49	1	1	0
SAAL1	113174	broad.mit.edu	37	11	18110971	18110971	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:18110971C>T	uc001mnq.3	-	6	726	c.676G>A	c.(676-678)Gct>Act	p.A226T	SAAL1_uc001mnr.3_Missense_Mutation_p.A226T	NM_138421	NP_612430	Q96ER3	SAAL1_HUMAN	Homo sapiens serum amyloid A-like 1 (SAAL1), mRNA.	226					acute-phase response	extracellular region	binding			breast(2)|large_intestine(5)|lung(8)	15						GGCTGAGCAGCCCCATTTCTG	0.493000														40			37		0	0	1	0	0
LTK	4058	broad.mit.edu	37	15	41797252	41797252	+	Missense_Mutation	SNP	C	T	T	rs145997165		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:41797252C>T	uc001zoa.3	-	15	2114	c.1936G>A	c.(1936-1938)Gcc>Acc	p.A646T	LTK_uc001zob.3_Missense_Mutation_p.A585T|LTK_uc010ucx.1_Missense_Mutation_p.A516T|LTK_uc010bcg.2_Missense_Mutation_p.A344T	NM_002344	NP_002335	P29376	LTK_HUMAN	Homo sapiens leukocyte receptor tyrosine kinase (LTK), transcript variant 1, mRNA.	646	Protein kinase.				apoptosis|cell proliferation|phosphatidylinositol 3-kinase cascade|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1)	26		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		CAGTTCCGGGCGGCAATATCC	0.527000										TSP Lung(18;0.14)				20			6		0	0	1	0	0
CMPK1	51727	broad.mit.edu	37	1	47834233	47834233	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:47834233C>T	uc001cri.3	+	1	413	c.264C>T	c.(262-264)taC>taT	p.Y88Y	CMPK1_uc010omp.2_Intron|CMPK1_uc010omq.2_Non-coding_Transcript	NM_016308	NP_057392	P30085	KCY_HUMAN	Homo sapiens cytidine monophosphate (UMP-CMP) kinase 1, cytosolic (CMPK1), transcript variant 1, mRNA.	56					nucleobase, nucleoside and nucleotide interconversion	cytosol|nucleus	ATP binding|cytidylate kinase activity|nucleoside phosphate kinase activity|uridine kinase activity			endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|stomach(2)	8					Gemcitabine(DB00441)	TTGAAAAGTACATTAAAGAAG	0.403000														44			20		0	0	1	0	0
AP3D1	8943	broad.mit.edu	37	19	2130455	2130455	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:2130455G>A	uc002lva.3	-	5	767	c.544C>T	c.(544-546)Cgc>Tgc	p.R182C	AP3D1_uc002luy.3_Intron|AP3D1_uc002luz.3_Missense_Mutation_p.R182C	NM_003938	NP_003929	O14617	AP3D1_HUMAN	Homo sapiens adaptor-related protein complex 3, delta 1 subunit (AP3D1), transcript variant 2, mRNA.	182					eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	Golgi membrane|endosome membrane|membrane coat	binding|protein transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AAGGCAGGGCGCAGCGACTCG	0.607000														46			40		0	0	1	0	0
PCNX	22990	broad.mit.edu	37	14	71502806	71502806	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:71502806G>A	uc001xmo.2	+	18	4245	c.3799G>A	c.(3799-3801)Gta>Ata	p.V1267I	PCNX_uc010are.1_Missense_Mutation_p.V1156I|PCNX_uc010arf.1_Missense_Mutation_p.V127I	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	Homo sapiens pecanex homolog (Drosophila) (PCNX), mRNA.	1267						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		GTCTGACCTGGTAGTATGCAT	0.323000														79			36		0	0	1	0	0
PARD3B	117583	broad.mit.edu	37	2	206166242	206166242	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:206166242C>T	uc002var.2	+	17	2654	c.2447C>T	c.(2446-2448)tCt>tTt	p.S816F	PARD3B_uc010fub.2_Missense_Mutation_p.S816F|PARD3B_uc002vao.2_Missense_Mutation_p.S816F|PARD3B_uc002vap.2_Missense_Mutation_p.S754F|PARD3B_uc002vaq.2_Missense_Mutation_p.S747F	NM_205863	NP_689739	Q8TEW8	PAR3L_HUMAN	Homo sapiens par-3 partitioning defective 3 homolog B (C. elegans) (PARD3B), mRNA.	816					cell cycle|cell division	endomembrane system|tight junction				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		AATTGTGAGTCTGCCCCTCAG	0.453000														97			5		0	0	1	0	0
KRT16	3868	broad.mit.edu	37	17	39766626	39766626	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:39766626C>T	uc002hxg.4	-	5	1376	c.1237G>A	c.(1237-1239)Gag>Aag	p.E413K	JUP_uc010wfs.2_Intron	NM_005557	NP_005548	P08779	K1C16_HUMAN	Homo sapiens keratin 16 (KRT16), mRNA.	413	Coil 2.|Rod.				cell proliferation|epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Breast(137;0.000307)				GTGGCAATCTCCTGCTCCAGC	0.637000														53			26		0	0	1	0	0
PRICKLE2	166336	broad.mit.edu	37	3	64133006	64133006	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:64133006C>T	uc003dmf.3	-	6	1746	c.1160G>A	c.(1159-1161)aGc>aAc	p.S387N		NM_198859	NP_942559	Q7Z3G6	PRIC2_HUMAN	Homo sapiens prickle homolog 2 (Drosophila) (PRICKLE2), mRNA.	387						cytoplasm|nuclear membrane	zinc ion binding			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		CCGGTTGAGGCTGGGTGTCTG	0.607000														73			40		0	0	1	0	0
ABL1	25	broad.mit.edu	37	9	133753948	133753948	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:133753948C>T	uc004bzw.3	+	7	1420	c.1417C>T	c.(1417-1419)Cga>Tga	p.R473*	ABL1_uc004bzv.3_Nonsense_Mutation_p.R492*	NM_005157	NP_005148	P00519	ABL1_HUMAN	Homo sapiens c-abl oncogene 1, non-receptor tyrosine kinase (ABL1), transcript variant a, mRNA.	473	Protein kinase.				DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|SH3 domain binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)	TGAACTCATGCGAGCATGTAA	0.502000			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""									76			60		0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10318841	10318841	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:10318841G>A	uc002gmm.2	-	6	691	c.596C>T	c.(595-597)gCa>gTa	p.A199V	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	199	Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TGCAATTGTTGCAAAGTATTG	0.458000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling					48			36		0	0	1	0	0
DNAJB7	150353	broad.mit.edu	37	22	41257829	41257829	+	Nonsense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:41257829G>T	uc003azj.3	-	0	302	c.170C>A	c.(169-171)tCa>tAa	p.S57*	XPNPEP3_uc011aox.2_Intron|XPNPEP3_uc003azh.3_Intron|XPNPEP3_uc003azi.3_Intron|XPNPEP3_uc011aoy.1_5'Flank|XPNPEP3_uc003azf.2_3'UTR|XPNPEP3_uc003azg.2_Non-coding_Transcript|XPNPEP3_uc010gyh.1_5'Flank	NM_145174	NP_660157	Q7Z6W7	DNJB7_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 7 (DNAJB7), mRNA.	57	J.				protein folding		heat shock protein binding|unfolded protein binding			breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	10						CTCATCATTTGATAATACCTC	0.373000														135			83		3.2527e-25	4.25485e-25	1	1	0
SLC16A1	6566	broad.mit.edu	37	1	113460590	113460590	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:113460590G>T	uc001ecx.3	-	3	1270	c.438C>A	c.(436-438)gcC>gcA	p.A146A	SLC16A1_uc001ecy.3_Silent_p.A146A|SLC16A1_uc001ecz.3_Silent_p.A146A	NM_001166496	NP_003042	P53985	MOT1_HUMAN	Homo sapiens solute carrier family 16, member 1 (monocarboxylic acid transporter 1) (SLC16A1), transcript variant 2, mRNA.	146					blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process	integral to membrane|membrane fraction|plasma membrane	mevalonate transmembrane transporter activity|protein binding|secondary active monocarboxylate transmembrane transporter activity|symporter activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|urinary_tract(1)	20	Lung SC(450;0.246)	all_cancers(81;7.6e-08)|all_epithelial(167;3.82e-07)|all_lung(203;3.07e-05)|Lung NSC(69;5.51e-05)|Prostate(1639;0.00232)		Epithelial(280;7.31e-13)|all cancers(265;5.1e-10)|Kidney(133;5.29e-07)|KIRC - Kidney renal clear cell carcinoma(1967;8.63e-06)|OV - Ovarian serous cystadenocarcinoma(397;1.48e-05)|BRCA - Breast invasive adenocarcinoma(282;0.003)|LUSC - Lung squamous cell carcinoma(189;0.008)|Lung(183;0.00948)|Colorectal(144;0.0325)|COAD - Colon adenocarcinoma(174;0.0643)	Pyruvic acid(DB00119)	CCAGTCCGTTGGCCAATGGTC	0.478000														26			22		3.01185e-09	3.57228e-09	1	1	0
TGDS	23483	broad.mit.edu	37	13	95230269	95230269	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:95230269A>G	uc001vlw.3	-	8	936	c.815T>C	c.(814-816)cTa>cCa	p.L272P		NM_014305	NP_055120	O95455	TGDS_HUMAN	Homo sapiens TDP-glucose 4,6-dehydratase (TGDS), mRNA.	272					cellular metabolic process		coenzyme binding|dTDP-glucose 4,6-dehydratase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8	all_neural(89;0.0684)|Medulloblastoma(90;0.163)					CAGTTGTATTAGTTCTTTGGC	0.348000														42			5		0	0	1	0	0
LOC440041	440041	broad.mit.edu	37	11	55065578	55065578	+	RNA	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:55065578C>T	uc021qjb.1	-	0		c.131G>A			LOC440041_uc001nhl.1_Non-coding_Transcript					Homo sapiens SPRY domain containing 5 pseudogene (LOC440041), non-coding RNA.																		ATGTTGTCTCCTTGCATTTAG	0.493000														20			21		0	0	1	0	0
GREB1	9687	broad.mit.edu	37	2	11735422	11735422	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:11735422C>T	uc002rbk.1	+	11	2042	c.1742C>T	c.(1741-1743)gCg>gTg	p.A581V	GREB1_uc002rbo.1_Missense_Mutation_p.A215V	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN	Homo sapiens growth regulation by estrogen in breast cancer 1 (GREB1), transcript variant a, mRNA.	581						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		CTCACTCCTGCGGAGTACCAG	0.522000														19			14		0	0	1	0	0
ZNF75D	7626	broad.mit.edu	37	X	134421742	134421742	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:134421742G>T	uc022ceq.1	-	5	1250	c.860C>A	c.(859-861)cCt>cAt	p.P287H	DKFZp451F083_uc004eym.3_Intron|DKFZp451F083_uc022cep.1_Intron|ZNF75D_uc004eyo.3_Missense_Mutation_p.P192H	NM_007131	NP_009062	P51815	ZN75D_HUMAN	Homo sapiens zinc finger protein 75D (ZNF75D), transcript variant 1, mRNA.	287	KRAB.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						AACAGATATAGGATGATCATT	0.363000														94			9		5.4927e-09	6.49148e-09	1	1	0
KIAA0564	23078	broad.mit.edu	37	13	42293748	42293748	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:42293748G>A	uc001uyj.3	-	25	3165	c.3095C>T	c.(3094-3096)aCc>aTc	p.T1032I	KIAA0564_uc001uyk.3_Missense_Mutation_p.T1032I	NM_015058	NP_055873	A3KMH1	K0564_HUMAN	Homo sapiens KIAA0564 (KIAA0564), transcript variant 1, mRNA.	1032						extracellular region	ATP binding|ATPase activity			endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(19)|lung(15)|ovary(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75		Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969)		CTGCACACTGGTAGGCTTTGC	0.378000														46			26		0	0	1	0	0
CATSPER2P1	440278	broad.mit.edu	37	15	44028445	44028445	+	RNA	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:44028445G>T	uc001zss.3	-	3		c.1336C>A								Homo sapiens cation channel, sperm associated 2 pseudogene 1 (CATSPER2P1), non-coding RNA.																		CAGATCCTCAGAAGCTGAAGC	0.493000														44			35		4.14194e-30	5.46336e-30	1	1	0
STAT6	6778	broad.mit.edu	37	12	57490680	57490680	+	Missense_Mutation	SNP	T	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57490680T>A	uc009zpg.3	-	20	2456	c.2454A>T	c.(2452-2454)gaA>gaT	p.E818D	STAT6_uc009zpe.3_Missense_Mutation_p.E769D|STAT6_uc001sna.3_Missense_Mutation_p.E769D|STAT6_uc009zpf.3_Missense_Mutation_p.E769D|STAT6_uc010srb.2_Missense_Mutation_p.E659D|STAT6_uc010src.2_Missense_Mutation_p.E659D|STAT6_uc010srd.2_Missense_Mutation_p.E659D	NM_001178081	NP_001171552	P42226	STAT6_HUMAN	Homo sapiens signal transducer and activator of transcription 6, interleukin-4 induced (STAT6), transcript variant 5, mRNA.	769					regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	DNA binding|calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	p.L818F(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						GGCAGCTGTCTTCCACCATGG	0.642000														40			4		0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39797948	39797948	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:39797948G>T	uc021olw.1	+	0	1008	c.1008G>T	c.(1006-1008)gaG>gaT	p.E336D	MACF1_uc021ols.1_Intron|MACF1_uc001cdc.2_Intron|MACF1_uc021olt.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdb.1_Intron	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	1901					Golgi to plasma membrane protein transport|Wnt receptor signaling pathway|cell cycle arrest|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|wound healing	Golgi apparatus|microtubule|ruffle membrane	ATPase activity|actin filament binding|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CAACCACAGAGATTTTGTCCT	0.408000														77			6		8.12818e-05	8.84769e-05	1	1	0
PRIC285	85441	broad.mit.edu	37	20	62190668	62190668	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:62190668G>A	uc002yfm.2	-	19	8773	c.7881C>T	c.(7879-7881)tgC>tgT	p.C2627C	PRIC285_uc002yfl.1_Silent_p.C2058C	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	Homo sapiens peroxisomal proliferator-activated receptor A interacting complex 285 (PRIC285), transcript variant 1, mRNA.	2627					cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|RNA binding|helicase activity|ribonuclease activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(4)|cervix(3)|endometrium(6)|kidney(3)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(4)|urinary_tract(2)	47	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)			GCTGAGCCTCGCAGAAGTCCA	0.652000														6			6		0	0	1	0	0
CCNB3	85417	broad.mit.edu	37	X	50053116	50053116	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:50053116G>A	uc004dox.4	+	5	2245	c.1947G>A	c.(1945-1947)ttG>ttA	p.L649L	CCNB3_uc004doy.3_Silent_p.L649L|CCNB3_uc004doz.3_Intron|CCNB3_uc010njq.3_Intron	NM_033031	NP_149020	Q8WWL7	CCNB3_HUMAN	Homo sapiens cyclin B3 (CCNB3), transcript variant 3, mRNA.	649					cell division|meiosis|regulation of G2/M transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					ATACCACCTTGCAGGAAGTGT	0.428000														22			6		0	0	1	0	0
ALDH8A1	64577	broad.mit.edu	37	6	135250346	135250346	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:135250346A>C	uc003qew.3	-	5	926	c.857T>G	c.(856-858)aTc>aGc	p.I286S	ALDH8A1_uc011ecx.2_Missense_Mutation_p.I236S|ALDH8A1_uc003qex.3_Intron|ALDH8A1_uc010kgh.3_Intron	NM_022568	NP_072090	Q9H2A2	AL8A1_HUMAN	Homo sapiens aldehyde dehydrogenase 8 family, member A1 (ALDH8A1), transcript variant 1, mRNA.	286					retinal metabolic process	cytoplasm	retinal dehydrogenase activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	36	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058)		ACAGAGACAGATTTCACCCTG	0.463000														21			14		0	0	1	0	0
ARID5B	84159	broad.mit.edu	37	10	63817058	63817058	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:63817058C>T	uc001jlt.2	+	5	1485	c.1029C>T	c.(1027-1029)ccC>ccT	p.P343P	ARID5B_uc001jlu.2_Silent_p.P100P	NM_032199	NP_115575	Q14865	ARI5B_HUMAN	Homo sapiens AT rich interactive domain 5B (MRF1-like) (ARID5B), transcript variant 1, mRNA.	343	ARID.				liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					AACGAATACCCTATTTAGGTT	0.373000														78			29		0	0	1	0	0
MN1	4330	broad.mit.edu	37	22	28193974	28193974	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:28193974G>A	uc003adj.3	-	0	3513	c.2558C>T	c.(2557-2559)cCg>cTg	p.P853L		NM_002430	NP_002421	Q10571	MN1_HUMAN	Homo sapiens meningioma (disrupted in balanced translocation) 1 (MN1), mRNA.	853							binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						GCCCTCTGGCGGGTTCTTCTT	0.647000			T	ETV6	"""AML, meningioma"""									75			46		0	0	1	0	0
UBE4B	10277	broad.mit.edu	37	1	10195195	10195195	+	Silent	SNP	G	A	A	rs146689339		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:10195195G>A	uc021ogc.1	+	16	3016	c.2328G>A	c.(2326-2328)acG>acA	p.T776T	UBE4B_uc001aqs.4_Silent_p.T725T|UBE4B_uc001aqr.4_Silent_p.T596T|UBE4B_uc010oai.2_Non-coding_Transcript|UBE4B_uc010oaj.2_Silent_p.T180T	NM_001105562	NP_001099032	O95155	UBE4B_HUMAN	Homo sapiens ubiquitination factor E4B (UBE4B), transcript variant 1, mRNA.	725					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding			NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		ATGATGAGACGCGTGTGAATG	0.443000														27			3		0	0	1	0	0
CCDC102B	79839	broad.mit.edu	37	18	66564467	66564467	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:66564467G>A	uc002lkk.2	+	7	1288	c.1065G>A	c.(1063-1065)ttG>ttA	p.L355L	CCDC102B_uc002lki.2_Silent_p.L355L|CCDC102B_uc002lkj.1_Silent_p.L355L	NM_001093729	NP_079057	Q68D86	C102B_HUMAN	Homo sapiens coiled-coil domain containing 102B (CCDC102B), transcript variant 1, mRNA.	355										breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				TAGAGAGATTGCAAGCTGAAA	0.433000														44			27		0	0	1	0	0
IL1F10	84639	broad.mit.edu	37	2	113831905	113831905	+	Splice_Site	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:113831905G>A	uc002tiu.3	+	3	108	c.33_splice	c.e3-1	p.I11_splice	IL1F10_uc002tiv.3_Splice_Site_p.I11_splice|IL1F10_uc002tiw.3_5'Flank	NM_173161	NP_775184	Q8WWZ1	IL1FA_HUMAN	Homo sapiens interleukin 1 family, member 10 (theta) (IL1F10), transcript variant 2, mRNA.	11						extracellular space	cytokine activity|interleukin-1 receptor antagonist activity			endometrium(1)|lung(6)|ovary(1)	8						TACTGTTTCAGAATTAAATAT	0.517000														20			7		0	0	1	0	0
CDK4	1019	broad.mit.edu	37	12	58145099	58145099	+	Missense_Mutation	SNP	C	T	T	rs3211612		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:58145099C>T	uc001spv.3	-	2	537	c.245G>A	c.(244-246)cGa>cAa	p.R82Q	CDK4_uc010ssb.2_Intron|CDK4_uc001spw.3_Non-coding_Transcript|DM110804_uc010ssc.1_5'Flank	NM_000075	NP_000066	P11802	CDK4_HUMAN	Homo sapiens cyclin-dependent kinase 4 (CDK4), mRNA.	82	Protein kinase.		R -> Q (in dbSNP:rs3211612).		G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle|cell division|positive regulation of fibroblast proliferation|regulation of gene expression|response to drug	cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane	ATP binding|cyclin-dependent protein kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	21	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			CCGGTCAGTTCGGGATGTGGC	0.532000			Mis			melanoma			Hereditary Melanoma					45			37		0	0	1	0	0
ERCC3	2071	broad.mit.edu	37	2	128016959	128016959	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:128016959C>A	uc002toh.1	-	13	2225	c.2130G>T	c.(2128-2130)caG>caT	p.Q710H	ERCC3_uc002toe.1_Missense_Mutation_p.Q465H|ERCC3_uc002tof.1_Missense_Mutation_p.Q646H|ERCC3_uc002tog.1_Missense_Mutation_p.Q646H	NM_000122	NP_000113	P19447	ERCC3_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 3 (xeroderma pigmentosum group B complementing) (ERCC3), mRNA.	710					DNA topological change|cell cycle checkpoint|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	31	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.073)		GTAAGAGCTGCTGTTGCTCTT	0.552000			"""Mis, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum					41			28		2.4375e-19	3.13598e-19	1	1	0
NOL11	25926	broad.mit.edu	37	17	65733763	65733763	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:65733763G>A	uc002jgd.1	+	11	1361	c.1358G>A	c.(1357-1359)cGg>cAg	p.R453Q	NOL11_uc010wql.1_Missense_Mutation_p.R271Q|NOL11_uc010deu.1_Missense_Mutation_p.R48Q	NM_015462	NP_056277	Q9H8H0	NOL11_HUMAN	Homo sapiens nucleolar protein 11 (NOL11), mRNA.	453						nucleolus				haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	11	all_cancers(12;1.54e-10)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0518)|COAD - Colon adenocarcinoma(4;0.0977)|LUSC - Lung squamous cell carcinoma(166;0.24)			TTTTATCCCCGGAACTGTCTG	0.433000														88			41		0	0	1	0	0
DENND1C	79958	broad.mit.edu	37	19	6467591	6467591	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:6467591G>A	uc002mfe.3	-	22	2422	c.2330C>T	c.(2329-2331)cCc>cTc	p.P777L	DENND1C_uc002mfb.3_Missense_Mutation_p.P327L|DENND1C_uc002mfc.3_Missense_Mutation_p.P327L|DENND1C_uc002mfd.3_Missense_Mutation_p.P327L|DENND1C_uc010xje.2_Missense_Mutation_p.P733L	NM_024898	NP_079174	Q8IV53	DEN1C_HUMAN	Homo sapiens DENN/MADD domain containing 1C (DENND1C), mRNA.	777						clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity			endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						GTTGCTGGTGGGTGTAGCAGG	0.617000														23			19		0	0	1	0	0
SCAF11	9169	broad.mit.edu	37	12	46321294	46321294	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:46321294T>G	uc001rox.3	-	10	2477	c.2190A>C	c.(2188-2190)gaA>gaC	p.E730D	SCAF11_uc001row.3_Missense_Mutation_p.E415D|SCAF11_uc001roy.1_Missense_Mutation_p.E804D	NM_004719	NP_004710	Q99590	SCAFB_HUMAN	Homo sapiens SR-related CTD-associated factor 11 (SCAF11), mRNA.	730					spliceosome assembly	nucleus	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						CAACTTCAGATTCATTTTGGT	0.358000														76			50		0	0	1	0	0
GIMAP4	55303	broad.mit.edu	37	7	150270110	150270110	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:150270110G>A	uc003whl.3	+	2	1034	c.952G>A	c.(952-954)Gct>Act	p.A318T	GIMAP4_uc011kuu.2_Missense_Mutation_p.A179T|GIMAP4_uc011kuv.2_Missense_Mutation_p.A332T	NM_018326	NP_060796	Q9NUV9	GIMA4_HUMAN	Homo sapiens GTPase, IMAP family member 4 (GIMAP4), mRNA.	318							GTP binding			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GTTACAGATTGCTTCCTTTAT	0.408000														65			31		0	0	1	0	0
LILRB3	11025	broad.mit.edu	37	19	54800090	54800090	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:54800090G>T	uc002qfd.3	-	6	1368	c.1276C>A	c.(1276-1278)Ctc>Atc	p.L426I	LILRB3_uc002qew.2_Intron|LILRB3_uc010erk.3_Missense_Mutation_p.L362I	NM_006865	NP_006856	O75022	LIRB3_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3 (LILRA3), transcript variant 1, mRNA.	425					cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity			endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGTGGGCTGAGGGTCTCAGCT	0.483000														31			4		0.184627	0.186034	1	1	0
TTC37	9652	broad.mit.edu	37	5	94872782	94872782	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:94872782C>T	uc003klb.3	-	8	904	c.607G>A	c.(607-609)Gta>Ata	p.V203I	TTC37_uc010jbf.2_Missense_Mutation_p.V155I	NM_014639	NP_055454	Q6PGP7	TTC37_HUMAN	Homo sapiens tetratricopeptide repeat domain 37 (TTC37), mRNA.	203							binding	p.V203E(1)		breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						CTATAAAGTACTTGGTGATCT	0.299000														25			12		0	0	1	0	0
ADAD2	161931	broad.mit.edu	37	16	84228961	84228961	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:84228961G>A	uc002fhq.2	+	5	1153	c.1039G>A	c.(1039-1041)Ggc>Agc	p.G347S	ADAD2_uc002fhr.2_Missense_Mutation_p.G265S|AK123582_uc002fhs.1_5'UTR	NM_139174	NP_631913	Q8NCV1	ADAD2_HUMAN	Homo sapiens adenosine deaminase domain containing 2 (ADAD2), transcript variant 1, mRNA.	265	A to I editase.				RNA processing	intracellular	adenosine deaminase activity|double-stranded RNA binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1)	13						TCTGGGCACCGGCAGCAGCTG	0.682000														7			5		0	0	1	0	0
YARS	8565	broad.mit.edu	37	1	33246731	33246731	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:33246731C>T	uc001bvy.1	-	9	1846	c.1058G>A	c.(1057-1059)gGc>gAc	p.G353D	YARS_uc001bvw.1_Missense_Mutation_p.G13D|YARS_uc001bvx.1_Missense_Mutation_p.G4D	NM_003680	NP_003671	P54577	SYYC_HUMAN	Homo sapiens tyrosyl-tRNA synthetase (YARS), mRNA.	353					apoptosis|tyrosyl-tRNA aminoacylation	cytosol|extracellular space|nucleus|soluble fraction	ATP binding|interleukin-8 receptor binding|signal transducer activity|tRNA binding|tyrosine-tRNA ligase activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)			L-Tyrosine(DB00135)	CTTGGCAGGGCCTTTGGCCAT	0.512000														56			34		0	0	1	0	0
ZNF710	374655	broad.mit.edu	37	15	90610756	90610756	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:90610756C>T	uc002bov.2	+	1	510	c.387C>T	c.(385-387)gaC>gaT	p.D129D		NM_198526	NP_940928	Q8N1W2	ZN710_HUMAN	Homo sapiens zinc finger protein 710 (ZNF710), mRNA.	129					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(1)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	19	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129)			TGCCAGGTGACGACAAGGACG	0.657000														5			5		0	0	1	0	0
CDK20	23552	broad.mit.edu	37	9	90586220	90586220	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:90586220C>T	uc004apr.3	-	2	554	c.220G>A	c.(220-222)Ggt>Agt	p.G74S	CDK20_uc004aps.3_Missense_Mutation_p.G74S|CDK20_uc022bjj.1_Missense_Mutation_p.G74S|CDK20_uc004apt.3_Missense_Mutation_p.G87S|CDK20_uc004apu.3_Missense_Mutation_p.G74S	NM_001039803	NP_001034892	Q8IZL9	CDK20_HUMAN	Homo sapiens cyclin-dependent kinase 20 (CDK20), transcript variant 3, mRNA.	74	Protein kinase.				cell division|multicellular organismal development	cilium|mitochondrion|nucleus	ATP binding|cyclin-dependent protein kinase activity			skin(1)	1						AAGCCTCCACCGTGTGGGAAC	0.592000														15			7		0	0	1	0	0
RYK	6259	broad.mit.edu	37	3	133896788	133896788	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:133896788T>C	uc003eqc.1	-	11	1397	c.1299A>G	c.(1297-1299)ccA>ccG	p.P433P	RYK_uc003eqd.1_Silent_p.P430P	NM_001005861	NP_001005861	P34925	RYK_HUMAN	Homo sapiens RYK receptor-like tyrosine kinase (RYK), transcript variant 1, mRNA.	431	Protein kinase.				Wnt receptor signaling pathway|corpus callosum development|positive regulation of MAPKKK cascade	cytoplasm|integral to plasma membrane|nucleus	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(1)|ovary(3)	4						TTCTCACCTGTGGATTATTGG	0.328000														44			4		0	0	1	0	0
LARP1B	55132	broad.mit.edu	37	4	129012278	129012278	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:129012278C>T	uc003iga.3	+	5	612	c.481C>T	c.(481-483)Cga>Tga	p.R161*	LARP1B_uc003ifw.1_Nonsense_Mutation_p.R114*|LARP1B_uc003ifx.3_Nonsense_Mutation_p.R161*|LARP1B_uc003ify.3_Nonsense_Mutation_p.R161*|LARP1B_uc003ifz.1_Nonsense_Mutation_p.R161*	NM_018078	NP_060548	Q659C4	LAR1B_HUMAN	Homo sapiens La ribonucleoprotein domain family, member 1B (LARP1B), transcript variant 1, mRNA.	161	Arg-rich.						RNA binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3)	34						GGGAAGAGGACGAGGCAGAGG	0.408000														63			50		0	0	1	0	0
CHRM4	1132	broad.mit.edu	37	11	46407677	46407677	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:46407677C>T	uc001nct.1	-	0	431	c.431G>A	c.(430-432)cGc>cAc	p.R144H		NM_000741	NP_000732	P08173	ACM4_HUMAN	Homo sapiens cholinergic receptor, muscarinic 4 (CHRM4), mRNA.	144					cell proliferation	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity			breast(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	20				GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14)	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)|Tropicamide(DB00809)	CTTGGTGGTGCGCCGGGCAGG	0.582000														11			5		0	0	1	0	0
MCPH1	79648	broad.mit.edu	37	8	6302093	6302093	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:6302093G>A	uc003wqi.3	+	7	926	c.850G>A	c.(850-852)Gat>Aat	p.D284N	MCPH1_uc003wqh.3_Missense_Mutation_p.D284N|MCPH1_uc011kwl.2_Missense_Mutation_p.D236N	NM_024596	NP_078872	Q8NEM0	MCPH1_HUMAN	Homo sapiens microcephalin 1 (MCPH1), transcript variant 1, mRNA.	284						microtubule organizing center			AGPAT5/MCPH1(2)	central_nervous_system(1)|large_intestine(4)|skin(1)	6		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		CACTCACCTCGATAAATCAAG	0.338000														52			8		0	0	1	0	0
MTA3	57504	broad.mit.edu	37	2	42936207	42936207	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:42936207C>A	uc002rso.1	+	14	1995	c.1325C>A	c.(1324-1326)gCt>gAt	p.A442D	MTA3_uc002rsp.1_Missense_Mutation_p.A442D|MTA3_uc002rsq.3_Missense_Mutation_p.A499D|MTA3_uc021vgm.1_Missense_Mutation_p.A187D	NM_020744	NP_065795	Q9BTC8	MTA3_HUMAN	Homo sapiens metastasis associated 1 family, member 3 (MTA3), mRNA.	499						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|large_intestine(2)|lung(9)|ovary(2)|stomach(1)	15						CCGTTTGTTGCTATTAATTAT	0.408000														6			4		1.23904e-05	1.3743e-05	1	1	0
N4BP2	55728	broad.mit.edu	37	4	40133443	40133443	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:40133443A>G	uc003guy.4	+	12	4888	c.4550A>G	c.(4549-4551)gAa>gGa	p.E1517G	N4BP2_uc010ifq.3_Missense_Mutation_p.E1437G|N4BP2_uc010ifr.3_Missense_Mutation_p.E1437G	NM_018177	NP_060647	Q86UW6	N4BP2_HUMAN	Homo sapiens NEDD4 binding protein 2 (N4BP2), mRNA.	1517						cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						CTTATGTTTGAAAAAGATTGT	0.343000														28			16		0	0	1	0	0
PRIC285	85441	broad.mit.edu	37	20	62198524	62198524	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:62198524G>A	uc002yfm.2	-	6	3079	c.2187C>T	c.(2185-2187)caC>caT	p.H729H	PRIC285_uc002yfl.1_Silent_p.H160H	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	Homo sapiens peroxisomal proliferator-activated receptor A interacting complex 285 (PRIC285), transcript variant 1, mRNA.	729					cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|RNA binding|helicase activity|ribonuclease activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(4)|cervix(3)|endometrium(6)|kidney(3)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(4)|urinary_tract(2)	47	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)			GCGCCACCTCGTGAGTCTCCT	0.657000														54			8		0	0	1	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102498707	102498707	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:102498707C>A	uc001yks.2	+	51	10146	c.9982C>A	c.(9982-9984)Ctg>Atg	p.L3328M		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	Homo sapiens dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1), mRNA.	3328	Stalk (By similarity).				G2/M transition of mitotic cell cycle|cytoplasmic mRNA processing body assembly|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	Golgi apparatus|centrosome|cytoplasmic dynein complex|cytosol|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CTGCCTGCTGCTGGGGGAAAG	0.577000														51			48		1.23713e-20	1.59858e-20	1	1	0
IGSF6	10261	broad.mit.edu	37	16	21655643	21655643	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:21655643C>T	uc002djg.2	-	2	570	c.502G>A	c.(502-504)Ggt>Agt	p.G168S	LOC23117_uc021tel.1_Intron|METTL9_uc002dje.3_Intron|METTL9_uc002djf.3_Intron	NM_005849	NP_005840	O95976	IGSF6_HUMAN	Homo sapiens immunoglobulin superfamily, member 6 (IGSF6), mRNA.	168					cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity			endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7				GBM - Glioblastoma multiforme(48;0.066)		ACGCACACACCGGTCACATAG	0.408000														43			12		0	0	1	0	0
MAP1B	4131	broad.mit.edu	37	5	71494288	71494288	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:71494288G>T	uc003kbw.4	+	4	5347	c.5106G>T	c.(5104-5106)aaG>aaT	p.K1702N	MAP1B_uc010iyw.1_Missense_Mutation_p.K1719N|MAP1B_uc010iyx.1_Missense_Mutation_p.K1576N|MAP1B_uc010iyy.1_Missense_Mutation_p.K1576N	NM_005909	NP_005900	P46821	MAP1B_HUMAN	Homo sapiens microtubule-associated protein 1B (MAP1B), mRNA.	1702						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		TATCACATAAGATACCACCTA	0.507000														44			19		6.49762e-13	8.04122e-13	1	1	0
ABCC3	8714	broad.mit.edu	37	17	48761367	48761367	+	Missense_Mutation	SNP	C	A	A	rs141762939		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:48761367C>A	uc002isl.3	+	27	4092	c.4012C>A	c.(4012-4014)Cgc>Agc	p.R1338S	ABCC3_uc002isn.3_Missense_Mutation_p.R92S	NM_003786	NP_003777	O15438	MRP3_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 3 (ABCC3), transcript variant 1, mRNA.	1338	ABC transporter 2.				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	TTGCCTGTTCCGCATCCTGGA	0.622000														54			5		3.59834e-05	3.95114e-05	1	1	0
CSTB	1476	broad.mit.edu	37	21	45194539	45194539	+	Splice_Site	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:45194539C>A	uc002zdr.3	-	2	277	c.168_splice	c.e2+1	p.K56_splice		NM_000100	NP_000091	P04080	CYTB_HUMAN	Homo sapiens cystatin B (stefin B) (CSTB), mRNA.	56						cytoplasm|nucleolus	cysteine-type endopeptidase inhibitor activity|protease binding			lung(1)|prostate(1)	2				STAD - Stomach adenocarcinoma(101;0.168)		CACACTCTACCTTGATGAAGT	0.587000														29			26		2.48779e-11	3.03834e-11	1	1	0
CLIP2	7461	broad.mit.edu	37	7	73770789	73770789	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:73770789G>A	uc003uam.3	+	4	1180	c.853G>A	c.(853-855)Gtg>Atg	p.V285M	CLIP2_uc003uan.3_Missense_Mutation_p.V285M	NM_003388	NP_003379	Q9UDT6	CLIP2_HUMAN	Homo sapiens CAP-GLY domain containing linker protein 2 (CLIP2), transcript variant 1, mRNA.	285						microtubule associated complex				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						CATCCACAAAGTGATCCGTAT	0.587000														94			9		0	0	1	0	0
NOX4	50507	broad.mit.edu	37	11	89106614	89106614	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:89106614A>G	uc001pct.3	-	11	1360	c.1121T>C	c.(1120-1122)gTa>gCa	p.V374A	NOX4_uc009yvr.3_Missense_Mutation_p.V349A|NOX4_uc001pcu.3_Missense_Mutation_p.V300A|NOX4_uc001pcw.3_Missense_Mutation_p.V67A|NOX4_uc001pcx.3_Missense_Mutation_p.V67A|NOX4_uc001pcv.3_Missense_Mutation_p.V374A|NOX4_uc009yvo.3_Non-coding_Transcript|NOX4_uc010rtu.2_Missense_Mutation_p.V208A|NOX4_uc009yvp.3_Intron|NOX4_uc010rtv.2_Missense_Mutation_p.V350A|NOX4_uc009yvq.3_Missense_Mutation_p.V350A	NM_016931	NP_001137309	Q9NPH5	NOX4_HUMAN	Homo sapiens NADPH oxidase 4 (NOX4), transcript variant 1, mRNA.	374	FAD-binding FR-type.|Mediates interaction with TLR4.				cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	NAD(P)H oxidase activity|electron carrier activity|flavin adenine dinucleotide binding|heme binding|nucleotide binding|oxygen sensor activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				CCAGTCTCCTACTATTTTAAG	0.274000														93			32		0	0	1	0	0
SULT2A1	6822	broad.mit.edu	37	19	48389406	48389406	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:48389406C>T	uc002phr.2	-	0	249	c.109G>A	c.(109-111)Gta>Ata	p.V37I		NM_003167	NP_003158	Q06520	ST2A1_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1 (SULT2A1), mRNA.	37					3'-phosphoadenosine 5'-phosphosulfate metabolic process|bile acid catabolic process|cellular lipid metabolic process|digestion|sulfation|xenobiotic metabolic process	cytosol	bile-salt sulfotransferase activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20		all_cancers(25;3.02e-09)|all_lung(116;6.48e-07)|all_epithelial(76;7.35e-07)|Lung NSC(112;1.56e-06)|all_neural(266;0.0146)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000254)|all cancers(93;0.000545)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.0552)		AATATTATTACATCTTCATCC	0.413000														197			14		0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135430313	135430313	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:135430313A>G	uc004ezu.1	+	5	4739	c.4448A>G	c.(4447-4449)gAc>gGc	p.D1483G	GPR112_uc010nsb.1_Missense_Mutation_p.D1278G|GPR112_uc010nsc.1_Missense_Mutation_p.D1250G	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	1483					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.D1483Y(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					GTTCTCTCCGACAGGATCACT	0.438000														181			13		0	0	1	0	0
EFNA1	1942	broad.mit.edu	37	1	155105979	155105979	+	Splice_Site	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155105979C>T	uc001fhh.3	+	3	494	c.389_splice	c.e3-1	p.S130_splice	EFNA1_uc001fhi.3_Intron|EFNA1_uc009wpd.1_Non-coding_Transcript|SLC50A1_uc001fhj.4_5'Flank|SLC50A1_uc001fhk.4_5'Flank|SLC50A1_uc001fhl.4_5'Flank	NM_004428	NP_004419	P20827	EFNA1_HUMAN	Homo sapiens ephrin-A1 (EFNA1), transcript variant 1, mRNA.	130					angiogenesis|aortic valve morphogenesis|cell migration|cell-cell signaling|endocardial cushion to mesenchymal transition involved in heart valve formation|ephrin receptor signaling pathway|mitral valve morphogenesis|negative regulation of epithelial to mesenchymal transition|negative regulation of transcription from RNA polymerase II promoter|positive regulation of peptidyl-tyrosine phosphorylation|regulation of cell adhesion mediated by integrin|substrate adhesion-dependent cell spreading	extracellular region|integral to plasma membrane	ephrin receptor binding			breast(1)|endometrium(1)|kidney(1)|lung(1)|skin(1)	5	all_epithelial(22;4.71e-30)|all_lung(78;3.15e-27)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;2.28e-10)|all cancers(21;6.16e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000395)|LUSC - Lung squamous cell carcinoma(543;0.193)			TATCTTGCAGCCAAACCCATC	0.507000														42			22		0	0	1	0	0
KCNH6	81033	broad.mit.edu	37	17	61623025	61623025	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:61623025C>A	uc002jay.3	+	13	2827	c.2747C>A	c.(2746-2748)cCc>cAc	p.P916H	KCNH6_uc010wpl.2_Missense_Mutation_p.P757H|KCNH6_uc010wpm.2_Missense_Mutation_p.P880H|KCNH6_uc002jaz.1_Missense_Mutation_p.P827H	NM_030779	NP_110406	Q9H252	KCNH6_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 6 (KCNH6), transcript variant 1, mRNA.	916					regulation of transcription, DNA-dependent|signal transduction					breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	AACTCCTCCCCCAGGATGCCT	0.597000														51			6		5.9392e-07	6.7814e-07	1	1	0
ZNF695	57116	broad.mit.edu	37	1	247151450	247151450	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:247151450G>A	uc009xgu.3	-	3	552	c.367C>T	c.(367-369)Cgc>Tgc	p.R123C	ZNF695_uc001ica.3_Non-coding_Transcript|ZNF695_uc001icb.2_Non-coding_Transcript|ZNF695_uc009xgt.2_Non-coding_Transcript|ZNF695_uc001ibx.3_Missense_Mutation_p.R123C|ZNF695_uc001iby.3_Intron|ZNF695_uc001icc.3_Missense_Mutation_p.R111C	NM_020394	NP_065127	Q8IW36	ZN695_HUMAN	Homo sapiens zinc finger protein 695 (ZNF695), transcript variant 1, mRNA.	123					regulation of transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(1)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	13	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			TTCCTTAAGCGTAATTTCTCA	0.403000														221			25		0	0	1	0	0
SLC26A7	115111	broad.mit.edu	37	8	92261894	92261894	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:92261894G>T	uc003yez.3	+	1	254	c.15G>T	c.(13-15)aaG>aaT	p.K5N	SLC26A7_uc003yex.3_Missense_Mutation_p.K5N|SLC26A7_uc003yey.3_Non-coding_Transcript|SLC26A7_uc003yfa.3_Missense_Mutation_p.K5N	NM_134266	NP_599028	Q8TE54	S26A7_HUMAN	Homo sapiens solute carrier family 26, member 7 (SLC26A7), transcript variant 2, mRNA.	5						basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			CAGGAGCAAAGAGGAAAAAGA	0.413000														34			5		8.12818e-05	8.84769e-05	1	1	0
ADCYAP1R1	117	broad.mit.edu	37	7	31117681	31117681	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:31117681C>A	uc003tca.2	+	3	522	c.233C>A	c.(232-234)cCt>cAt	p.P78H	ADCYAP1R1_uc003tcg.3_Missense_Mutation_p.P78H|ADCYAP1R1_uc003tce.2_Missense_Mutation_p.P78H|ADCYAP1R1_uc003tcb.2_Missense_Mutation_p.P78H|ADCYAP1R1_uc003tcc.2_Missense_Mutation_p.P78H	NM_001118	NP_001109	P41586	PACR_HUMAN	Homo sapiens adenylate cyclase activating polypeptide 1 (pituitary) receptor type I (ADCYAP1R1), transcript variant 3, mRNA.	78					activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						GTCAGCTGCCCTGAGCTCTTC	0.592000														62			9		2.17888e-05	2.40634e-05	1	1	0
GLUD1	2746	broad.mit.edu	37	10	88811578	88811578	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:88811578G>A	uc001keh.3	-	12	1857	c.1607C>T	c.(1606-1608)aCa>aTa	p.T536I	GLUD1_uc001keg.3_Missense_Mutation_p.T369I|GLUD1_uc010qmp.2_Missense_Mutation_p.T403I	NM_005271	NP_005262	P00367	DHE3_HUMAN	Homo sapiens glutamate dehydrogenase 1 (GLUD1), nuclear gene encoding mitochondrial protein, mRNA.	536					glutamate biosynthetic process|glutamate catabolic process|positive regulation of insulin secretion	mitochondrial matrix	ADP binding|ATP binding|GTP binding|NAD+ binding|glutamate dehydrogenase|glutamate dehydrogenase activity|identical protein binding|leucine binding			endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(11)|prostate(1)	22					L-Glutamic Acid(DB00142)|NADH(DB00157)	ATAGGCAGCTGTTCTCAGGTC	0.438000														82			41		0	0	1	0	0
DOPEY2	9980	broad.mit.edu	37	21	37618055	37618055	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:37618055C>T	uc002yvg.3	+	18	3856	c.3777C>T	c.(3775-3777)atC>atT	p.I1259I	DOPEY2_uc011aeb.2_Silent_p.I1208I|DOPEY2_uc002yvh.3_Silent_p.I110I	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN	Homo sapiens dopey family member 2 (DOPEY2), mRNA.	1259					Golgi to endosome transport|endoplasmic reticulum organization|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						AGGAATTCATCGAGGCTGTGT	0.592000														25			18		0	0	1	0	0
EXTL3	2137	broad.mit.edu	37	8	28573840	28573840	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:28573840G>A	uc003xgz.1	+	2	857	c.264G>A	c.(262-264)tcG>tcA	p.S88S		NM_001440	NP_001431	O43909	EXTL3_HUMAN	Homo sapiens exostoses (multiple)-like 3 (EXTL3), mRNA.	88						integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding	p.S88S(4)		biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		TCCGGGAGTCGGTGAGTGAAG	0.582000														27			12		0	0	1	0	0
NPBWR1	2831	broad.mit.edu	37	8	53852687	53852687	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:53852687C>A	uc011ldu.2	+	0	220	c.220C>A	c.(220-222)Ctg>Atg	p.L74M		NM_005285	NP_005276	P48145	NPBW1_HUMAN	Homo sapiens neuropeptides B/W receptor 1 (NPBWR1), mRNA.	74					synaptic transmission	plasma membrane	opioid receptor activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)	17		Lung NSC(129;0.0222)|all_epithelial(80;0.0301)|all_lung(136;0.0431)				CGTCACCAACCTGTTCATCCT	0.647000														12			10		0.00621372	0.00645399	1	1	0
NECAP2	55707	broad.mit.edu	37	1	16770223	16770223	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:16770223G>A	uc001ayq.3	+	1	279	c.189G>A	c.(187-189)acG>acA	p.T63T	NECAP2_uc001ayo.3_Silent_p.T63T|NECAP2_uc010ocd.2_Silent_p.T37T	NM_001145277	NP_001138749	Q9NVZ3	NECP2_HUMAN	Homo sapiens NECAP endocytosis associated 2 (NECAP2), transcript variant 2, mRNA.	63					endocytosis|protein transport	clathrin vesicle coat|coated pit|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|Kidney(64;0.000181)|KIRC - Kidney renal clear cell carcinoma(64;0.00268)|STAD - Stomach adenocarcinoma(196;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		AGGACAGGACGTCAGGTAACC	0.617000														15			5		0	0	1	0	0
ITGA6	3655	broad.mit.edu	37	2	173339741	173339741	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:173339741G>T	uc002uhp.1	+	6	1274	c.1071G>T	c.(1069-1071)caG>caT	p.Q357H	ITGA6_uc010fqk.1_Missense_Mutation_p.Q243H|ITGA6_uc010zdy.1_Missense_Mutation_p.Q238H|ITGA6_uc002uho.1_Missense_Mutation_p.Q357H|ITGA6_uc010fqm.1_Missense_Mutation_p.Q3H	NM_001079818	NP_001073286	P23229	ITA6_HUMAN	Homo sapiens integrin, alpha 6 (ITGA6), transcript variant 1, mRNA.	396					blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter	integrin complex	protein binding|receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			ACATGAACCAGCAAGGCAGAT	0.373000														47			27		9.04412e-07	1.02938e-06	1	1	0
ZNF528	84436	broad.mit.edu	37	19	52909767	52909767	+	Splice_Site	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:52909767G>T	uc002pzh.3	+	6	569	c.143_splice	c.e6-1	p.G48_splice	ZNF528_uc002pzi.3_Splice_Site	NM_032423	NP_115799	Q3MIS6	ZN528_HUMAN	Homo sapiens zinc finger protein 528 (ZNF528), mRNA.	48	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.?(1)		breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		TTTATAAATAGGAATCTGTCT	0.403000														48			11		4.3838e-07	5.01911e-07	1	1	0
BTAF1	9044	broad.mit.edu	37	10	93743997	93743997	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:93743997C>T	uc001khr.3	+	18	2361	c.2263C>T	c.(2263-2265)Ctt>Ttt	p.L755F	BTAF1_uc001khs.1_Missense_Mutation_p.L425F|BTAF1_uc001kht.1_Missense_Mutation_p.L193F	NM_003972	NP_003963	O14981	BTAF1_HUMAN	Homo sapiens BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa (Mot1 homolog, S. cerevisiae) (BTAF1), mRNA.	755					negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				GCCGCGTTTACTTGATATCCT	0.338000														29			21		0	0	1	0	0
C4orf37	285555	broad.mit.edu	37	4	98865063	98865063	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:98865063C>A	uc003htt.2	-	7	1119	c.1029G>T	c.(1027-1029)atG>atT	p.M343I		NM_174952	NP_777612	Q8N412	CD037_HUMAN	Homo sapiens chromosome 4 open reading frame 37 (C4orf37), mRNA.	343										cervix(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(3)|stomach(1)	25				OV - Ovarian serous cystadenocarcinoma(123;2.27e-08)		CTGGTACTTTCATAGTTCTTT	0.348000														68			27		7.01153e-11	8.50817e-11	1	1	0
USP10	9100	broad.mit.edu	37	16	84778569	84778569	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:84778569G>T	uc010voe.2	+	4	745	c.494G>T	c.(493-495)aGc>aTc	p.S165I	USP10_uc002fii.3_Missense_Mutation_p.S161I|USP10_uc010vof.2_Intron|USP10_uc002fij.3_5'UTR	NM_005153	NP_005144	Q14694	UBP10_HUMAN	Homo sapiens ubiquitin specific peptidase 10 (USP10), mRNA.	161					DNA damage response, signal transduction by p53 class mediator|DNA repair|protein deubiquitination|ubiquitin-dependent protein catabolic process	early endosome|intermediate filament cytoskeleton|nucleus	cystic fibrosis transmembrane conductance regulator binding|p53 binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1)	17						GGATATTACAGCTATTTGAAA	0.478000														32			6		0.00198382	0.00208369	1	1	0
NUP210L	91181	broad.mit.edu	37	1	154029414	154029414	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:154029414C>A	uc001fdw.3	-	22	3189	c.3117G>T	c.(3115-3117)gaG>gaT	p.E1039D	NUP210L_uc009woq.3_Intron|NUP210L_uc010peh.2_Missense_Mutation_p.E1039D	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	Homo sapiens nucleoporin 210kDa-like (NUP210L), transcript variant 1, mRNA.	1039						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			CGTCCTGTTGCTCCATTGGTC	0.433000														43			40		2.40579e-17	3.06446e-17	1	1	0
ZIC4	84107	broad.mit.edu	37	3	147113651	147113651	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:147113651G>A	uc011bno.2	-	2	1012	c.826C>T	c.(826-828)Cga>Tga	p.R276*	ZIC4_uc003ewc.2_Nonsense_Mutation_p.R156*|ZIC4_uc021xff.1_Nonsense_Mutation_p.R264*|ZIC4_uc003ewd.2_Nonsense_Mutation_p.R226*|ZIC4_uc021xfg.1_Intron	NM_001168378	NP_115529	Q8N9L1	ZIC4_HUMAN	Homo sapiens Zic family member 4 (ZIC4), transcript variant 1, mRNA.	226						nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						GTGTGAGTTCGTTTGTGTATT	0.557000														48			36		0	0	1	0	0
LLGL1	3996	broad.mit.edu	37	17	18140194	18140194	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:18140194C>T	uc002gsp.3	+	12	1613	c.1552C>T	c.(1552-1554)Cag>Tag	p.Q518*		NM_004140	NP_004131	Q15334	L2GL1_HUMAN	Homo sapiens lethal giant larvae homolog 1 (Drosophila) (LLGL1), mRNA.	518					cortical actin cytoskeleton organization|exocytosis|protein complex assembly	cortical actin cytoskeleton	protein kinase binding|structural molecule activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_neural(463;0.228)					GCTTGGCGTGCAGAAGGTTGC	0.612000														12			7		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140202078	140202078	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140202078G>A	uc003lhl.2	+	0	718	c.718G>A	c.(718-720)Gaa>Aaa	p.E240K	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_uc003lhk.1_Missense_Mutation_p.E240K|PCDHAC2_uc003lhj.1_Missense_Mutation_p.E240K	NM_018908	NP_061731	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 5 (PCDHA5), transcript variant 1, mRNA.	256	Cadherin 2.				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)			TAACGCCCCAGAATTTGATAA	0.388000														50			39		0	0	1	0	0
MTHFS	10588	broad.mit.edu	37	15	80181638	80181638	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:80181638T>C	uc002bex.4	-	1	237	c.176A>G	c.(175-177)cAa>cGa	p.Q59R	MTHFS_uc021srp.1_Missense_Mutation_p.Q21R|MTHFS_uc021srq.1_Missense_Mutation_p.Q2R|MTHFS_uc021srr.1_Missense_Mutation_p.Q35R	NM_006441	NP_001186687	P49914	MTHFS_HUMAN	Homo sapiens 5,10-methenyltetrahydrofolate synthetase (5-formyltetrahydrofolate cyclo-ligase) (MTHFS), transcript variant 1, mRNA.	59					folic acid-containing compound biosynthetic process|formate metabolic process|tetrahydrofolate metabolic process	Golgi apparatus|cytosol|plasma membrane	5-formyltetrahydrofolate cyclo-ligase activity|ATP binding|folic acid binding			endometrium(3)|large_intestine(1)|liver(1)	5				all cancers(203;0.00467)		AATTTCATCTTGCATGCTCAG	0.393000														61			39		0	0	1	0	0
FUBP1	8880	broad.mit.edu	37	1	78430754	78430754	+	Splice_Site	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:78430754T>G	uc001dii.3	-	8	725	c.636_splice	c.e8+1	p.Q212_splice	FUBP1_uc001dih.4_Splice_Site|FUBP1_uc010orm.2_Splice_Site_p.Q233_splice	NM_003902	NP_003893	Q96AE4	FUBP1_HUMAN	Homo sapiens far upstream element (FUSE) binding protein 1 (FUBP1), mRNA.	212	KH 2.				transcription from RNA polymerase II promoter	nucleus	RNA binding|protein binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						TAACAATACCTGAAGCTGTTT	0.363000			"""F, N"""		oligodendroglioma									202			11		0	0	1	0	0
KIAA0947	23379	broad.mit.edu	37	5	5464275	5464275	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:5464275A>G	uc003jdm.4	+	12	5050	c.4828A>G	c.(4828-4830)Aca>Gca	p.T1610A		NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN	Homo sapiens KIAA0947 (KIAA0947), mRNA.	1610										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						AAATGCTGATACATCCACTCC	0.448000														54			5		0	0	1	0	0
SNAPC4	6621	broad.mit.edu	37	9	139278098	139278098	+	Missense_Mutation	SNP	C	T	T	rs145651274		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:139278098C>T	uc004chh.3	-	14	1532	c.1523G>A	c.(1522-1524)cGg>cAg	p.R508Q		NM_003086	NP_003077	Q5SXM2	SNPC4_HUMAN	Homo sapiens small nuclear RNA activating complex, polypeptide 4, 190kDa (SNAPC4), mRNA.	508					snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		CCTCCGCCGCCGCCTCCGGAG	0.657000														14			15		0	0	1	0	0
C10orf90	118611	broad.mit.edu	37	10	128147787	128147787	+	Splice_Site	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:128147787C>T	uc010qum.2	-	7	2041	c.2011_splice	c.e7-1	p.E671_splice	C10orf90_uc001ljp.3_Splice_Site_p.E430_splice|C10orf90_uc001ljq.3_Splice_Site_p.E574_splice	NM_001004298	NP_001004298	Q96M02	CJ090_HUMAN	Homo sapiens chromosome 10 open reading frame 90 (C10orf90), mRNA.	574										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		CCAGTGCTTCCTATGCAAAGC	0.483000														63			9		0	0	1	0	0
PKD1L1	168507	broad.mit.edu	37	7	47925295	47925295	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:47925295G>T	uc003tny.2	-	17	3228	c.3194C>A	c.(3193-3195)cCt>cAt	p.P1065H		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA.	1065	REJ.				cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						AGAGAGGTGAGGGTCAGGGCT	0.557000														169			8		1.06961e-07	1.2399e-07	1	1	0
IQGAP1	8826	broad.mit.edu	37	15	91025491	91025491	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:91025491C>T	uc002bpl.1	+	27	3634	c.3533C>T	c.(3532-3534)gCt>gTt	p.A1178V		NM_003870	NP_003861	P46940	IQGA1_HUMAN	Homo sapiens IQ motif containing GTPase activating protein 1 (IQGAP1), mRNA.	1178	C1.|Ras-GAP.				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	GTPase inhibitor activity|Ras GTPase activator activity|calmodulin binding|protein phosphatase binding			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			TTCCCTGATGCTGGTGAGGAT	0.493000											OREG0023473	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		36			13		0	0	1	0	0
ZNF271	10778	broad.mit.edu	37	18	32887471	32887471	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:32887471C>A	uc002kyq.4	+	2	1875	c.883C>A	c.(883-885)Cta>Ata	p.L295I	ZNF271_uc002kyp.4_Missense_Mutation_p.L295I|ZNF271_uc002kyr.4_Missense_Mutation_p.L295I					Homo sapiens zinc finger protein 271 (ZNF271), transcript variant 1, non-coding RNA.											large_intestine(3)|lung(9)	12						AGCTCTTACCCTACACCAGAG	0.438000														33			9		1.33987e-11	1.64046e-11	1	1	0
FBLN5	10516	broad.mit.edu	37	14	92353550	92353550	+	Silent	SNP	G	A	A	rs148209555		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:92353550G>A	uc010aue.3	-	7	1322	c.849C>T	c.(847-849)ggC>ggT	p.G283G	FBLN5_uc010aud.3_Silent_p.G247G|FBLN5_uc001xzx.4_Silent_p.G242G	NM_006329	NP_006320	Q9UBX5	FBLN5_HUMAN	Homo sapiens fibulin 5 (FBLN5), mRNA.	242	EGF-like 5; calcium-binding (Potential).				cell-matrix adhesion|elastic fiber assembly|protein localization at cell surface|regulation of removal of superoxide radicals	extracellular space|proteinaceous extracellular matrix|soluble fraction	calcium ion binding|integrin binding|protein C-terminus binding	p.G242G(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	28		all_cancers(154;0.0722)				TGCAATGAACGCCATCTTCCT	0.547000														141			11		0	0	1	0	0
MUC6	4588	broad.mit.edu	37	11	1017383	1017383	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:1017383G>T	uc001lsw.2	-	30	5469	c.5418C>A	c.(5416-5418)acC>acA	p.T1806T		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	Homo sapiens mucin 6, oligomeric mucus/gel-forming (MUC6), mRNA.	1806	Approximate repeats.|Thr-rich.			TT -> SS (in Ref. 5; AAA35866).	maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|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;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AGATGGGAGTGGTCCCTGTAG	0.597000														634			82		6.15735e-50	8.2055e-50	1	1	0
ACAP3	116983	broad.mit.edu	37	1	1234013	1234013	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:1234013G>T	uc001aeb.2	-	10	871	c.797C>A	c.(796-798)cCc>cAc	p.P266H	ACAP3_uc001ady.2_5'UTR|ACAP3_uc001aea.2_Missense_Mutation_p.P224H	NM_030649	NP_085152	Q96P50	ACAP3_HUMAN	Homo sapiens ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 (ACAP3), mRNA.	266					filopodium assembly|regulation of ARF GTPase activity|signal transduction		ARF GTPase activator activity|SH3 domain binding|cytoskeletal adaptor activity|zinc ion binding			endometrium(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	14						CACCCCACTGGGCGCGTCCAC	0.637000														32			6		0.0381472	0.0388409	1	1	0
PCDHGC5	56097	broad.mit.edu	37	5	140754977	140754977	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140754977G>A	uc003ljy.2	+	0	1327	c.1327G>A	c.(1327-1329)Gca>Aca	p.A443T	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc011dau.2_Missense_Mutation_p.A443T	NM_018919	NP_061742	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 6 (PCDHGA6), transcript variant 1, mRNA.	445	Cadherin 4.				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)			TCTAAATGTGGCAGACACCAA	0.498000														105			9		0	0	1	0	0
SCUBE1	80274	broad.mit.edu	37	22	43606935	43606935	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:43606935G>A	uc003bdt.2	-	17	2503	c.2376C>T	c.(2374-2376)caC>caT	p.H792H		NM_173050	NP_766638	Q8IWY4	SCUB1_HUMAN	Homo sapiens signal peptide, CUB domain, EGF-like 1 (SCUBE1), mRNA.	792					adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				CACTTTTGCAGTGTGTGACGT	0.637000														23			12		0	0	1	0	0
NDUFA9	4704	broad.mit.edu	37	12	4763994	4763994	+	Missense_Mutation	SNP	G	A	A	rs35263902	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:4763994G>A	uc001qnc.3	+	2	253	c.224G>A	c.(223-225)cGc>cAc	p.R75H	NDUFA9_uc009zei.2_Missense_Mutation_p.R75H	NM_005002	NP_004993	Q16795	NDUA9_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa (NDUFA9), nuclear gene encoding mitochondrial protein, mRNA.	75					mitochondrial electron transport, NADH to ubiquinone|sodium ion transport	mitochondrial matrix|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity|protein binding	p.G74R(1)		NS(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21					NADH(DB00157)	CTTTTAGGACGCATGGGGTCA	0.383000														40			23		0	0	1	0	0
TIMP4	7079	broad.mit.edu	37	3	12195185	12195185	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:12195185T>C	uc003bwo.3	-	4	1016	c.505A>G	c.(505-507)Acc>Gcc	p.T169A	SYN2_uc003bwl.1_Intron|SYN2_uc003bwm.3_Intron|SYN2_uc003bwn.3_Intron	NM_003256	NP_003247	Q99727	TIMP4_HUMAN	Homo sapiens TIMP metallopeptidase inhibitor 4 (TIMP4), mRNA.	169							metal ion binding|metalloendopeptidase inhibitor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11						GCCGAGATGGTACAGGGTACT	0.483000														76			9		0	0	1	0	0
EPB41L2	2037	broad.mit.edu	37	6	131225615	131225615	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:131225615C>A	uc003qch.2	-	5	1101	c.919G>T	c.(919-921)Gat>Tat	p.D307Y	EPB41L2_uc010kfl.2_Missense_Mutation_p.D307Y|EPB41L2_uc003qcg.1_Missense_Mutation_p.D307Y|EPB41L2_uc003qci.3_Missense_Mutation_p.D307Y|EPB41L2_uc011eby.2_Missense_Mutation_p.D307Y|EPB41L2_uc010kfk.2_Missense_Mutation_p.D307Y	NM_001431	NP_001422	O43491	E41L2_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1-like 2 (EPB41L2), transcript variant 1, mRNA.	307	FERM.				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		CTGGTGATATCTTCAGTCAAT	0.353000														45			4		0.00024832	0.000267289	1	1	0
XRCC5	7520	broad.mit.edu	37	2	217069920	217069920	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:217069920A>G	uc002vfy.3	+	20	2334	c.2194A>G	c.(2194-2196)Ata>Gta	p.I732V	XRCC5_uc002vfz.3_Missense_Mutation_p.I618V	NM_021141	NP_066964	P13010	XRCC5_HUMAN	Homo sapiens X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining) (XRCC5), mRNA.	732					double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|provirus integration|telomere maintenance|transcription, DNA-dependent	Ku70:Ku80 complex|nonhomologous end joining complex|nuclear telomere cap complex|nucleoplasm	ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|telomeric DNA binding|transcription regulatory region DNA binding			endometrium(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Renal(323;0.0328)		Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117)		GTTGGACATGATATAGGTCGT	0.453000								Non-homologous end-joining						80			50		0	0	1	0	0
GNAL	2774	broad.mit.edu	37	18	11872382	11872382	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:11872382A>G	uc002kqc.2	+	9	1574	c.1147A>G	c.(1147-1149)Act>Gct	p.T383A	GNAL_uc002kqd.2_Missense_Mutation_p.T306A|GNAL_uc010dkz.2_Missense_Mutation_p.T306A|GNAL_uc010wzt.1_Missense_Mutation_p.T99A	NM_182978	NP_892023	P38405	GNAL_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type (GNAL), transcript variant 1, mRNA.	306					activation of adenylate cyclase activity by dopamine receptor signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception of smell|synaptic transmission	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|adenylate cyclase activity|signal transducer activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)	12						TGCAAATTATACTGTTCCTGA	0.323000														73			9		0	0	1	0	0
EI24	9538	broad.mit.edu	37	11	125446203	125446203	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:125446203G>T	uc009zbl.3	+	3	483	c.241G>T	c.(241-243)Gtg>Ttg	p.V81L	EI24_uc001qca.3_Missense_Mutation_p.V81L|EI24_uc001qcb.3_Missense_Mutation_p.V81L|EI24_uc010sbd.2_Non-coding_Transcript|EI24_uc010sbe.2_Missense_Mutation_p.V67L|EI24_uc010sbf.2_Non-coding_Transcript	NM_004879	NP_004870	O14681	EI24_HUMAN	Homo sapiens etoposide induced 2.4 mRNA (EI24), transcript variant 1, mRNA.	81					apoptosis|autophagy|induction of apoptosis|negative regulation of cell growth	endoplasmic reticulum membrane|integral to membrane|nuclear membrane				large_intestine(1)|lung(9)|ovary(1)	11	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.64e-07)|OV - Ovarian serous cystadenocarcinoma(99;0.0975)		GAATGGTGGAGTGTTCTGGGT	0.368000														27			8		3.09899e-07	3.55757e-07	1	1	0
ERBB4	2066	broad.mit.edu	37	2	212543838	212543838	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:212543838G>T	uc002veg.1	-	12	1659	c.1561C>A	c.(1561-1563)Ctg>Atg	p.L521M	ERBB4_uc002veh.1_Missense_Mutation_p.L521M|ERBB4_uc010zji.1_Missense_Mutation_p.L521M|ERBB4_uc010zjj.1_Missense_Mutation_p.L521M|ERBB4_uc010fut.1_Missense_Mutation_p.L521M	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	Homo sapiens v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian) (ERBB4), transcript variant JM-a/CVT-1, mRNA.	521	Cys-rich.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		CGACACGACAGACATTGGTCT	0.498000										TSP Lung(8;0.080)				26			5		1.23904e-05	1.3743e-05	1	1	0
ELK1	2002	broad.mit.edu	37	X	47497276	47497276	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:47497276C>T	uc004dik.4	-	4	1282	c.960G>A	c.(958-960)gaG>gaA	p.E320E	ELK1_uc010nhv.3_Silent_p.E320E|ELK1_uc010nhw.3_Silent_p.E210E|ELK1_uc004dil.4_Intron	NM_001114123	NP_005220	P19419	ELK1_HUMAN	Homo sapiens ELK1, member of ETS oncogene family (ELK1), transcript variant 1, mRNA.	320					MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|skin(2)	10						TGAGTGGAAGCTCTAGGTCCC	0.721000														4			4		0	0	1	0	0
GRK4	2868	broad.mit.edu	37	4	3037201	3037201	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:3037201A>C	uc003ggn.1	+	12	1813	c.1358A>C	c.(1357-1359)aAc>aCc	p.N453T	GRK4_uc003ggo.1_Missense_Mutation_p.N453T|GRK4_uc003ggp.1_Missense_Mutation_p.N421T|GRK4_uc003ggq.1_Missense_Mutation_p.N421T	NM_182982	NP_892027	P32298	GRK4_HUMAN	Homo sapiens G protein-coupled receptor kinase 4 (GRK4), transcript variant 1, mRNA.	453	AGC-kinase C-terminal.					cell cortex	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			lung(1)|upper_aerodigestive_tract(1)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		AAGGACATCAACTTCAGGAGG	0.592000														68			8		0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10417403	10417403	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:10417403C>T	uc002gmo.3	-	6	666	c.572G>A	c.(571-573)cGt>cAt	p.R191H	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	191	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CTGGATGACACGCTTGGTGTT	0.433000														63			13		0	0	1	0	0
CYP4V2	285440	broad.mit.edu	37	4	187131752	187131752	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:187131752G>A	uc003iyw.4	+	10	1839	c.1535G>A	c.(1534-1536)gGc>gAc	p.G512D	CYP4V2_uc010ism.3_Non-coding_Transcript	NM_207352	NP_997235	Q6ZWL3	CP4V2_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily V, polypeptide 2 (CYP4V2), mRNA.	512					response to stimulus|visual perception	endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)|stomach(2)	20		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.33e-10)|BRCA - Breast invasive adenocarcinoma(30;3.84e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000293)|LUSC - Lung squamous cell carcinoma(40;0.00242)|READ - Rectum adenocarcinoma(43;0.17)		CCAAGTAATGGCATCTGGATC	0.398000														37			17		0	0	1	0	0
GIT1	28964	broad.mit.edu	37	17	27903334	27903334	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:27903334C>A	uc002heg.2	-	14	1756	c.1542G>T	c.(1540-1542)caG>caT	p.Q514H	GIT1_uc002hef.2_Missense_Mutation_p.Q505H|GIT1_uc010wbg.1_Missense_Mutation_p.Q514H	NM_001085454	NP_001078923	Q9Y2X7	GIT1_HUMAN	Homo sapiens G protein-coupled receptor kinase interacting ArfGAP 1 (GIT1), transcript variant 1, mRNA.	505					regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|focal adhesion	ARF GTPase activator activity|protein binding|zinc ion binding			large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069)		TGGAAAAGGCCTGGCGATCCC	0.667000														118			8		0.0381472	0.0388409	1	1	0
PRRC2A	7916	broad.mit.edu	37	6	31593584	31593584	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31593584C>T	uc003nvb.4	+	7	1024	c.775C>T	c.(775-777)Ctc>Ttc	p.L259F	PRRC2A_uc011dnv.1_Non-coding_Transcript|PRRC2A_uc003nvc.4_Missense_Mutation_p.L259F|PRRC2A_uc003nve.3_3'UTR	NM_080686	NP_542417	P48634	PRC2A_HUMAN	Homo sapiens proline-rich coiled-coil 2A (PRRC2A), transcript variant 1, mRNA.	259	4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding	p.L259I(2)		breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						TCCCCCATATCTCCCGTTCCC	0.562000														33			15		0	0	1	0	0
RBM25	58517	broad.mit.edu	37	14	73577639	73577639	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:73577639A>G	uc010ttu.2	+	15	2069	c.1793A>G	c.(1792-1794)gAa>gGa	p.E598G	RBM25_uc001xno.3_Missense_Mutation_p.E598G|RBM25_uc001xnp.3_Missense_Mutation_p.E393G	NM_021239	NP_067062	P49756	RBM25_HUMAN	Homo sapiens RNA binding motif protein 25 (RBM25), mRNA.	598	Glu-rich.|Necessary for nuclear speckle localization.				RNA splicing|apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nuclear speck	mRNA binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		gaaaaacgagaagaaCCCATG	0.493000														6			13		0	0	1	0	0
ZNF366	167465	broad.mit.edu	37	5	71739898	71739898	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:71739898C>A	uc003kce.1	-	4	2106	c.1920G>T	c.(1918-1920)caG>caT	p.Q640H		NM_152625	NP_689838	Q8N895	ZN366_HUMAN	Homo sapiens zinc finger protein 366 (ZNF366), mRNA.	640					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		TGCAGAGCTGCTGGCTCTGGG	0.652000														192			27		1.42536e-11	1.74426e-11	1	1	0
OSBPL6	114880	broad.mit.edu	37	2	179238699	179238699	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179238699C>A	uc002uly.3	+	15	2097	c.1553C>A	c.(1552-1554)tCt>tAt	p.S518Y	OSBPL6_uc002ulw.3_Missense_Mutation_p.S426Y|OSBPL6_uc002ulx.3_Missense_Mutation_p.S493Y|OSBPL6_uc010zfe.2_Missense_Mutation_p.S462Y|OSBPL6_uc002ulz.3_Missense_Mutation_p.S457Y|OSBPL6_uc002uma.3_Missense_Mutation_p.S497Y	NM_001201480	NP_001188409	Q9BZF3	OSBL6_HUMAN	Homo sapiens oxysterol binding protein-like 6 (OSBPL6), transcript variant 3, mRNA.	493					lipid transport		lipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			GAGTCTGTTTCTGAGTTCTTT	0.498000														43			27		6.07407e-21	7.85226e-21	1	1	0
FAM5C	339479	broad.mit.edu	37	1	190250845	190250845	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:190250845A>G	uc001gse.1	-	2	504	c.272T>C	c.(271-273)gTt>gCt	p.V91A	FAM5C_uc010pot.1_Intron	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	Homo sapiens family with sequence similarity 5, member C (FAM5C), mRNA.	91						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					TCTTCTCTCAACTGCAAGGTT	0.398000														32			11		0	0	1	0	0
DNHD1	144132	broad.mit.edu	37	11	6541320	6541320	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6541320C>A	uc001mdw.4	+	8	2337	c.1773C>A	c.(1771-1773)acC>acA	p.T591T	DNHD1_uc001mdp.3_Silent_p.T591T|DNHD1_uc001mdq.3_Silent_p.T280T	NM_144666	NP_653267	Q96M86	DNHD1_HUMAN	Homo sapiens dynein heavy chain domain 1 (DNHD1), transcript variant 1, mRNA.	591					microtubule-based movement	dynein complex	microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CTGTCAAGACCTCTGCCTTGC	0.478000														65			11		4.68919e-08	5.46558e-08	1	1	0
PRKAG1	5571	broad.mit.edu	37	12	49396702	49396702	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:49396702C>A	uc001rsy.3	-	11	1082	c.976G>T	c.(976-978)Ggt>Tgt	p.G326C	PRKAG1_uc010smd.2_Missense_Mutation_p.G294C|PRKAG1_uc001rsz.3_Missense_Mutation_p.G335C	NM_002733	NP_001193639	P54619	AAKG1_HUMAN	Homo sapiens protein kinase, AMP-activated, gamma 1 non-catalytic subunit (PRKAG1), transcript variant 1, mRNA.	326	CBS 4.				cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|positive regulation of protein kinase activity|regulation of fatty acid oxidation|regulation of glycolysis|spermatogenesis	cytosol	cAMP-dependent protein kinase activity|cAMP-dependent protein kinase regulator activity|protein kinase binding			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	9						TTCTCTCCACCTGTGAGCACC	0.542000														25			9		0.00829132	0.00860413	1	1	0
RNF121	55298	broad.mit.edu	37	11	71671880	71671880	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:71671880G>A	uc001ora.3	+	2	526	c.186G>A	c.(184-186)ttG>ttA	p.L62L	RNF121_uc001ord.3_5'UTR|RNF121_uc001orb.3_Silent_p.L30L|RNF121_uc009yst.3_Silent_p.L30L	NM_018320	NP_060790	Q9H920	RN121_HUMAN	Homo sapiens ring finger protein 121 (RNF121), transcript variant 1, mRNA.	62						integral to membrane	zinc ion binding			endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|urinary_tract(1)	13						TCGCAACCTTGGTGGTGGCCC	0.542000														51			5		0	0	1	0	0
DCAF10	79269	broad.mit.edu	37	9	37857348	37857348	+	Splice_Site	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:37857348G>T	uc004aao.3	+	5	1239	c.1165_splice	c.e5+1	p.G389_splice	DCAF10_uc010mlz.3_Splice_Site_p.G216_splice|DCAF10_uc004aap.3_Intron	NM_024345	NP_077321	Q5QP82	DCA10_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 10 (DCAF10), mRNA.	389						CUL4 RING ubiquitin ligase complex				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	12						TCAAAGAGAAGGTAGGTTAAA	0.333000														37			25		7.33532e-06	8.20065e-06	1	1	0
FADS6	283985	broad.mit.edu	37	17	72877209	72877209	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:72877209T>C	uc002jmd.1	-	3	727	c.715A>G	c.(715-717)Aac>Gac	p.N239D	FADS6_uc010wrn.1_Intron	NM_178128	NP_835229	Q8N9I5	FADS6_HUMAN	Homo sapiens fatty acid desaturase domain family, member 6 (FADS6), mRNA.	245					fatty acid biosynthetic process	integral to membrane	oxidoreductase activity			endometrium(3)|kidney(1)|lung(4)	8	all_lung(278;0.172)|Lung NSC(278;0.207)					TGGAAGATGTTGACGTGGAGG	0.617000														16			4		0	0	1	0	0
NAIP	4671	broad.mit.edu	37	5	70405049	70405049	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:70405049C>T	uc003kat.1	-	0	2815	c.1549G>A	c.(1549-1551)Gac>Aac	p.D517N	DQ570835_uc021yai.1_Non-coding_Transcript	NM_022892	NP_075043	Q13075	BIRC1_HUMAN	Homo sapiens NLR family, apoptosis inhibitory protein (NAIP), transcript variant 2, mRNA.	905	NACHT.				anti-apoptosis|apoptosis|nervous system development	basolateral plasma membrane|cytoplasm	caspase inhibitor activity|metal ion binding|nucleoside-triphosphatase activity|nucleotide binding			central_nervous_system(1)	1		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		TCTGGGTGGTCGAAAAAGTAC	0.418000														158			10		0	0	1	0	0
KIAA1244	57221	broad.mit.edu	37	6	138576703	138576703	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:138576703C>A	uc003qhu.3	+	9	1072	c.901C>A	c.(901-903)Cac>Aac	p.H301N		NM_020340	NP_065073	Q5TH69	BIG3_HUMAN	Homo sapiens KIAA1244 (KIAA1244), mRNA.	301					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		AGTGTCTGACCACGGCCGAGG	0.617000														60			6		0.00198382	0.00208369	1	1	0
OR2T34	127068	broad.mit.edu	37	1	248737166	248737166	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:248737166C>T	uc001iep.1	-	0	893	c.893G>A	c.(892-894)cGc>cAc	p.R298H		NM_001001821	NP_001001821	Q8NGX1	O2T34_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 34 (OR2T34), mRNA.	298					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	43	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)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ATCTTTGTTGCGGAGACTGTA	0.478000														31			26		0	0	1	0	0
CPXM2	119587	broad.mit.edu	37	10	125521526	125521526	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:125521526C>T	uc001lhk.1	-	10	1964	c.1639G>A	c.(1639-1641)Gtg>Atg	p.V547M	CPXM2_uc001lhj.3_Non-coding_Transcript	NM_198148	NP_937791	Q8N436	CPXM2_HUMAN	Homo sapiens carboxypeptidase X (M14 family), member 2 (CPXM2), mRNA.	547					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		CAGCGGAACACGTGGTCGTCG	0.677000														31			22		0	0	1	0	0
HIF3A	64344	broad.mit.edu	37	19	46815450	46815450	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:46815450A>G	uc002peh.3	+	6	834	c.803A>G	c.(802-804)gAc>gGc	p.D268G	HIF3A_uc002pef.2_Missense_Mutation_p.D268G|HIF3A_uc002peg.4_Missense_Mutation_p.D268G|HIF3A_uc010xxx.2_Non-coding_Transcript|HIF3A_uc021uwf.1_Missense_Mutation_p.D212G|HIF3A_uc002pej.2_Missense_Mutation_p.D199G|HIF3A_uc010xxy.2_Missense_Mutation_p.D199G|HIF3A_uc002pel.3_Missense_Mutation_p.D266G|HIF3A_uc010xxz.2_Missense_Mutation_p.D217G	NM_152795	NP_690008	Q9Y2N7	HIF3A_HUMAN	Homo sapiens hypoxia inducible factor 3, alpha subunit (HIF3A), transcript variant 3, mRNA.	268	PAS 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		AGTCCCGATGACCTGATCGGC	0.597000														96			9		0	0	1	0	0
CDH18	1016	broad.mit.edu	37	5	19571703	19571703	+	Missense_Mutation	SNP	G	T	T	rs17856908		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:19571703G>T	uc003jgd.3	-	7	1772	c.1238C>A	c.(1237-1239)aCt>aAt	p.T413N	CDH18_uc011cnm.2_Missense_Mutation_p.T413N|CDH18_uc003jgc.3_Missense_Mutation_p.T413N|CDH18_uc021xwu.1_Missense_Mutation_p.T413N	NM_004934	NP_004925	Q13634	CAD18_HUMAN	Homo sapiens cadherin 18, type 2 (CDH18), transcript variant 1, mRNA.	413	Cadherin 4.			T -> I (in Ref. 4; AAH31051).	adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					TAAGCTGTTAGTACTGTCAGG	0.378000														43			33		5.43694e-19	6.98762e-19	1	1	0
TTC12	54970	broad.mit.edu	37	11	113233177	113233177	+	Nonsense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:113233177G>T	uc001pnv.3	+	18	1792	c.1687G>T	c.(1687-1689)Gag>Tag	p.E563*	TTC12_uc001pnu.3_Nonsense_Mutation_p.E557*|TTC12_uc001pnw.3_Non-coding_Transcript|TTC12_uc001pnx.3_Nonsense_Mutation_p.E407*	NM_017868	NP_060338	Q9H892	TTC12_HUMAN	Homo sapiens tetratricopeptide repeat domain 12 (TTC12), mRNA.	557			V -> A (in dbSNP:rs35303225).				binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)		AATTGTTGAGGAGGCCTTGCG	0.418000														52			20		1.90627e-21	2.46823e-21	1	1	0
BEX4	56271	broad.mit.edu	37	X	102471115	102471115	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:102471115C>A	uc022cbk.1	+	0	34	c.34C>A	c.(34-36)Ctc>Atc	p.L12I	BEX4_uc004ejv.4_Missense_Mutation_p.L12I|BEX4_uc004ejw.4_Missense_Mutation_p.L12I	NM_001127688	NP_001121160	Q9NWD9	BEX4_HUMAN	Homo sapiens brain expressed, X-linked 4 (BEX4), transcript variant 1, mRNA.	12						cytoplasm|nucleus				endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	9						GGCAAACAATCTCAACGGGGA	0.512000														46			5		8.12818e-05	8.84769e-05	1	1	0
KLHL11	55175	broad.mit.edu	37	17	40011097	40011097	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:40011097C>T	uc002hyf.1	-	1	1028	c.1022G>A	c.(1021-1023)tGc>tAc	p.C341Y		NM_018143	NP_060613	Q9NVR0	KLH11_HUMAN	Homo sapiens kelch-like 11 (Drosophila) (KLHL11), mRNA.	341						extracellular region				NS(2)|breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17		Breast(137;0.00156)				GGGGTGCTGGCATGTGCCAGA	0.478000														59			35		0	0	1	0	0
ACHE	43	broad.mit.edu	37	7	100491199	100491199	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100491199C>T	uc003uxd.3	-	0	811	c.655G>A	c.(655-657)Gca>Aca	p.A219T	ACHE_uc003uxe.3_Missense_Mutation_p.A219T|ACHE_uc003uxf.3_Missense_Mutation_p.A219T|ACHE_uc003uxg.3_Missense_Mutation_p.A219T|ACHE_uc003uxh.3_Missense_Mutation_p.A219T|ACHE_uc003uxi.3_Missense_Mutation_p.A219T|ACHE_uc003uxj.1_Missense_Mutation_p.A338T	NM_000665	NP_000656	P22303	ACES_HUMAN	Homo sapiens acetylcholinesterase (ACHE), transcript variant E4-E6, mRNA.	219					DNA replication|acetylcholine catabolic process in synaptic cleft|amyloid precursor protein metabolic process|cell adhesion|cell proliferation|choline metabolic process|muscle organ development|neurotransmitter biosynthetic process|osteoblast development|positive regulation of protein secretion|regulation of axonogenesis|regulation of dendrite morphogenesis|response to wounding|synapse assembly	Golgi apparatus|anchored to membrane|axon|basal lamina|cell junction|cell surface|dendrite|endoplasmic reticulum lumen|extracellular space|neuromuscular junction|nucleus|perinuclear region of cytoplasm|postsynaptic membrane|presynaptic membrane|synaptic cleft	acetylcholine binding|acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|collagen binding|laminin-1 binding|protein homodimerization activity|serine hydrolase activity			large_intestine(3)|lung(7)|skin(3)|urinary_tract(3)	16	Lung NSC(181;0.041)|all_lung(186;0.0581)				Ambenonium(DB01122)|Atropine(DB00572)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium bromide(DB00944)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tacrine(DB00382)|Tubocurarine(DB01199)	CCGAAGGCTGCCACGTTCTCC	0.701000														81			18		0	0	1	0	0
HERC1	8925	broad.mit.edu	37	15	63948395	63948395	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:63948395G>A	uc002amp.3	-	48	9910	c.9762C>T	c.(9760-9762)agC>agT	p.S3254S		NM_003922	NP_003913	Q15751	HERC1_HUMAN	Homo sapiens hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1 (HERC1), mRNA.	3254					protein modification process|transport	Golgi apparatus|cytosol|membrane	ARF guanyl-nucleotide exchange factor activity|acid-amino acid ligase activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						TGTTAGCCTTGCTATGCCCAC	0.532000														8			6		0	0	1	0	0
ABCG1	9619	broad.mit.edu	37	21	43711733	43711733	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:43711733C>T	uc011aev.2	+	12	1763	c.1689C>T	c.(1687-1689)ggC>ggT	p.G563G	ABCG1_uc002zam.3_Silent_p.G518G|ABCG1_uc002zan.3_Silent_p.G542G|ABCG1_uc002zao.3_Silent_p.G537G|ABCG1_uc002zap.3_Silent_p.G540G|ABCG1_uc002zaq.3_Silent_p.G552G|ABCG1_uc002zar.3_Silent_p.G551G|ABCG1_uc010gpb.2_Missense_Mutation_p.P193S	NM_004915	NP_004906	P45844	ABCG1_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 1 (ABCG1), transcript variant 4, mRNA.	552	ABC transmembrane type-2.				amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport	Golgi membrane|endoplasmic reticulum membrane|external side of plasma membrane|recycling endosome	ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	AGTCCCTGGGCCTGCTGATCG	0.667000														20			10		0	0	1	0	0
CNTROB	116840	broad.mit.edu	37	17	7849174	7849174	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7849174C>T	uc002gjp.3	+	13	2813	c.1863C>T	c.(1861-1863)gaC>gaT	p.D621D	CNTROB_uc002gjq.3_Silent_p.D621D|CNTROB_uc002gjr.3_Silent_p.D523D	NM_001037144	NP_001032221	Q8N137	CNTRB_HUMAN	Homo sapiens centrobin, centrosomal BRCA2 interacting protein (CNTROB), transcript variant 2, mRNA.	621	Pro-rich.|Required for centrosome localization.				centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25		Prostate(122;0.173)				AAGCAAGGGACGAGCTACCTG	0.607000														85			36		0	0	1	0	0
CACNG7	59284	broad.mit.edu	37	19	54445390	54445390	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:54445390G>A	uc002qcr.2	+	4	766	c.671G>A	c.(670-672)tGc>tAc	p.C224Y		NM_031896	NP_114102	P62955	CCG7_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 7 (CACNG7), mRNA.	224				GAGVMSVYLFTKRYAEEEMYRPHPAFYRPRLSDCSDYSGQF LQPEAWRRGRSPSDISSDVSIQMTQNYPPAIKYPDHLHIST SPC -> VTSVGPRL (in Ref. 1; AAK20030).	regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0711)		CTCAGCGACTGCTCCGACTAC	0.672000														35			6		0	0	1	0	0
JAG1	182	broad.mit.edu	37	20	10625555	10625555	+	Missense_Mutation	SNP	G	A	A	rs140330283	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:10625555G>A	uc002wnw.2	-	17	2816	c.2300C>T	c.(2299-2301)aCg>aTg	p.T767M	JAG1_uc010gcd.1_Missense_Mutation_p.T325M	NM_000214	NP_000205	P78504	JAG1_HUMAN	Homo sapiens jagged 1 (JAG1), mRNA.	767	EGF-like 14.				Notch receptor processing|Notch signaling pathway|angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	Notch binding|calcium ion binding|growth factor activity|structural molecule activity			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						GCAGACGCACGTAAAGGACTC	0.592000									Alagille Syndrome					117			73		0	0	1	0	0
PORCN	64840	broad.mit.edu	37	X	48369778	48369778	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:48369778C>A	uc010nie.1	+	2	390	c.232C>A	c.(232-234)Ctc>Atc	p.L78I	PORCN_uc004djq.1_Missense_Mutation_p.L191I|PORCN_uc004djr.1_Missense_Mutation_p.L78I|PORCN_uc004djs.1_Missense_Mutation_p.L78I|PORCN_uc011mlx.1_Missense_Mutation_p.L7I|PORCN_uc004dju.1_5'UTR|PORCN_uc004djv.1_Missense_Mutation_p.L78I|PORCN_uc004djw.1_Missense_Mutation_p.L78I	NM_203475	NP_982301	Q9H237	PORCN_HUMAN	Homo sapiens porcupine homolog (Drosophila) (PORCN), transcript variant D, mRNA.	78	Leu-rich.				Wnt receptor signaling pathway	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GGTCGTGCTGCTCAGCCTCCT	0.567000											OREG0019764	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		116			14		1.49906e-05	1.66078e-05	1	1	0
MARCH6	10299	broad.mit.edu	37	5	10387155	10387155	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:10387155G>A	uc003jet.1	+	4	567	c.384G>A	c.(382-384)acG>acA	p.T128T	MARCH6_uc011cmu.1_Silent_p.T80T|MARCH6_uc003jeu.1_5'UTR|MARCH6_uc011cmv.1_Silent_p.T23T	NM_005885	NP_005876	O60337	MARH6_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 6 (MARCH6), mRNA.	128					protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						CACTACTGACGCTGCCATTAG	0.428000														30			24		0	0	1	0	0
ZNF613	79898	broad.mit.edu	37	19	52448086	52448086	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:52448086G>A	uc002pxz.2	+	5	1414	c.950G>A	c.(949-951)gGa>gAa	p.G317E	ZNF613_uc002pya.2_Missense_Mutation_p.G281E	NM_001031721	NP_079116	Q6PF04	ZN613_HUMAN	Homo sapiens zinc finger protein 613 (ZNF613), transcript variant 1, mRNA.	317					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)		AAACCACATGGATGCAGCCTG	0.458000														34			21		0	0	1	0	0
CACNA2D2	9254	broad.mit.edu	37	3	50417156	50417156	+	Splice_Site	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:50417156C>T	uc003daq.3	-	10	1031	c.993_splice	c.e10+1	p.S331_splice	CACNA2D2_uc003dap.3_Splice_Site_p.S331_splice	NM_001174051	NP_001167522	Q9NY47	CA2D2_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 2 (CACNA2D2), transcript variant 3, mRNA.	331	VWFA.				energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Gabapentin(DB00996)	TGGCACTCACCGAGGCCACAT	0.592000														22			11		0	0	1	0	0
RAI14	26064	broad.mit.edu	37	5	34803818	34803818	+	Splice_Site	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:34803818A>G	uc003jis.3	+	7	805	c.266_splice	c.e7-1	p.G89_splice	RAI14_uc003jir.3_Splice_Site_p.G86_splice|RAI14_uc010iur.3_Splice_Site_p.G86_splice|RAI14_uc011coj.2_Splice_Site_p.G86_splice|RAI14_uc010ius.1_Splice_Site_p.G15_splice|RAI14_uc003jit.3_Splice_Site_p.G86_splice|RAI14_uc011cok.2_Splice_Site_p.G78_splice	NM_001145525	NP_001138997	Q9P0K7	RAI14_HUMAN	Homo sapiens retinoic acid induced 14 (RAI14), transcript variant 6, mRNA.	86						cell cortex|cytoskeleton	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					tCCATTTAGGACACAGCGCCT	0.358000														7			6		0	0	1	0	0
ANXA11	311	broad.mit.edu	37	10	81917736	81917736	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:81917736T>C	uc010qlx.1	-	10	1672	c.1622A>G	c.(1621-1623)aAc>aGc	p.N541S	ANXA11_uc001kbq.1_Missense_Mutation_p.N441S|ANXA11_uc001kbr.1_Missense_Mutation_p.N441S|ANXA11_uc001kbs.1_Missense_Mutation_p.N441S|ANXA11_uc001kbt.1_Missense_Mutation_p.N441S|ANXA11_uc010qly.1_Missense_Mutation_p.N408S|ANXA11_uc001kbu.1_Missense_Mutation_p.N441S	NM_145869	NP_665876	P50995	ANX11_HUMAN	Homo sapiens annexin A11 (ANXA11), transcript variant c, mRNA.	441					cell cycle|cytokinesis, completion of separation|phagocytosis|response to calcium ion	azurophil granule|melanosome|midbody|nuclear envelope|nucleoplasm|phagocytic vesicle|specific granule|spindle	S100 alpha binding|calcium-dependent phospholipid binding|calcium-dependent protein binding			endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|urinary_tract(1)	17	Prostate(51;0.00985)|all_epithelial(25;0.0951)		Colorectal(32;0.109)			CATGGCCTTGTTGAGCCTCTC	0.532000														51			28		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179500774	179500774	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179500774C>T	uc021vsy.1	-	174	34045	c.33820G>A	c.(33820-33822)Gca>Aca	p.A11274T	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Missense_Mutation_p.A4969T|TTN_uc021vta.1_Missense_Mutation_p.A4902T|TTN_uc021vtb.1_Missense_Mutation_p.A4777T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	12201	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTGTCATCTGCATCGTTGATG	0.498000														80			8		0	0	1	0	0
PRL	5617	broad.mit.edu	37	6	22294743	22294743	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:22294743G>A	uc003ndp.3	-	1	618	c.99C>T	c.(97-99)ccC>ccT	p.P33P	PRL_uc003ndo.3_Silent_p.P34P|PRL_uc003ndq.3_Silent_p.P33P|PRL_uc003ndr.1_Non-coding_Transcript	NM_000948	NP_001157030	P01236	PRL_HUMAN	Homo sapiens prolactin (PRL), transcript variant 1, mRNA.	33					cell proliferation|cell surface receptor linked signaling pathway|female pregnancy|lactation|positive regulation of JAK-STAT cascade|regulation of multicellular organism growth	cytosol|extracellular region	hormone activity|prolactin receptor binding			NS(1)|endometrium(2)|large_intestine(6)|lung(6)|prostate(1)	16	Ovarian(93;0.163)					CAGCCCCGCCGGGACAGATGG	0.607000														12			12		0	0	1	0	0
SLC5A3	6526	broad.mit.edu	37	21	35468959	35468959	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:35468959G>A	uc021wir.1	+	0	1462	c.1462G>A	c.(1462-1464)Gcc>Acc	p.A488T	SLC5A3_uc002yto.3_Missense_Mutation_p.A488T|MRPS6_uc002ytp.2_Intron	NM_006933	NP_008864	P53794	SC5A3_HUMAN	Homo sapiens solute carrier family 5 (sodium/myo-inositol cotransporter), member 3 (SLC5A3), mRNA.	488						integral to plasma membrane	myo-inositol:sodium symporter activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	20						TTTGATACTGGCCTTTGCCTA	0.488000														59			33		0	0	1	0	0
LFNG	3955	broad.mit.edu	37	7	2565976	2565976	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:2565976G>A	uc003smf.3	+	5	937	c.920G>A	c.(919-921)cGc>cAc	p.R307H	LFNG_uc021zyw.1_Missense_Mutation_p.R236H|LFNG_uc021zyx.1_Missense_Mutation_p.R178H|LFNG_uc003smg.3_Missense_Mutation_p.R307H|MIR4648_uc021zyy.1_5'Flank	NM_001040167	NP_001035257	Q8NES3	LFNG_HUMAN	Homo sapiens LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase (LFNG), transcript variant 1, mRNA.	307					organ morphogenesis	extracellular region|integral to Golgi membrane	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|urinary_tract(2)	6		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.54e-14)		CCCCTCATCCGCAGCGGCCTC	0.667000														29			65		0	0	1	0	0
LRRC37A11P	342666	broad.mit.edu	37	17	37188635	37188635	+	RNA	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:37188635C>A	uc002hrd.1	+	0		c.2477C>A								Homo sapiens FLJ43826 protein (FLJ43826), non-coding RNA.																		AAAGCAGAGGCTCCGCTGAGT	0.527000														47			33		9.93527e-08	1.15396e-07	1	1	0
CA9	768	broad.mit.edu	37	9	35675906	35675906	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:35675906C>T	uc003zxo.4	+	2	624	c.582C>T	c.(580-582)cgC>cgT	p.R194R	C9orf100_uc003zxl.3_5'Flank	NM_001216	NP_001207	Q16790	CAH9_HUMAN	Homo sapiens carbonic anhydrase IX (CA9), mRNA.	194	Catalytic.				one-carbon metabolic process	integral to membrane|microvillus membrane|nucleolus	carbonate dehydratase activity|zinc ion binding			kidney(1)|large_intestine(3)|lung(5)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	17	all_epithelial(49;0.217)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CAGAACTGCGCCTGCGCAACA	0.726000														10			7		0	0	1	0	0
DIP2C	22982	broad.mit.edu	37	10	429983	429983	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:429983C>T	uc001ifp.3	-	15	1950	c.1860G>A	c.(1858-1860)gcG>gcA	p.A620A	DIP2C_uc009xhj.1_Silent_p.A316A	NM_014974	NP_055789	Q9Y2E4	DIP2C_HUMAN	Homo sapiens DIP2 disco-interacting protein 2 homolog C (Drosophila) (DIP2C), mRNA.	620						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		TCGCGCCGTCCGCCACTATCA	0.522000														35			4		0	0	1	0	0
KCNQ4	9132	broad.mit.edu	37	1	41288056	41288056	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:41288056G>T	uc001cgh.2	+	7	1194	c.1112G>T	c.(1111-1113)aGt>aTt	p.S371I	KCNQ4_uc001cgi.2_Missense_Mutation_p.S371I	NM_004700	NP_004691	P56696	KCNQ4_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 4 (KCNQ4), transcript variant 1, mRNA.	371					sensory perception of sound	basal plasma membrane|voltage-gated potassium channel complex				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1)	26	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)			TACTATGACAGTATCCTCCCA	0.627000														23			9		2.52707e-12	3.1144e-12	1	1	0
RPS6KC1	26750	broad.mit.edu	37	1	213414375	213414375	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:213414375A>G	uc010ptr.2	+	10	1715	c.1556A>G	c.(1555-1557)tAt>tGt	p.Y519C	RPS6KC1_uc001hkd.3_Missense_Mutation_p.Y507C|RPS6KC1_uc010pts.2_Missense_Mutation_p.Y307C|RPS6KC1_uc010ptt.2_Missense_Mutation_p.Y307C|RPS6KC1_uc010ptu.2_Missense_Mutation_p.Y338C|RPS6KC1_uc010ptv.2_Missense_Mutation_p.Y54C|RPS6KC1_uc001hke.3_Missense_Mutation_p.Y338C	NM_012424	NP_036556	Q96S38	KS6C1_HUMAN	Homo sapiens ribosomal protein S6 kinase, 52kDa, polypeptide 1 (RPS6KC1), transcript variant 1, mRNA.	519					cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		TGCAATGAATATGGGCAAGAA	0.403000														42			4		0	0	1	0	0
LNX2	222484	broad.mit.edu	37	13	28127484	28127484	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:28127484C>T	uc001url.4	-	7	1948	c.1639G>A	c.(1639-1641)Gct>Act	p.A547T	LNX2_uc001urm.1_Missense_Mutation_p.A547T	NM_153371	NP_699202	Q8N448	LNX2_HUMAN	Homo sapiens ligand of numb-protein X 2 (LNX2), mRNA.	547	PDZ 3.						zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31		Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.113)|all cancers(112;0.127)|Epithelial(112;0.248)		AGGGCAACAGCAGGGGACGCG	0.498000														44			17		0	0	1	0	0
FAM24B	196792	broad.mit.edu	37	10	124609946	124609946	+	Missense_Mutation	SNP	G	A	A	rs139313059		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:124609946G>A	uc001lgt.3	-	2	420	c.86C>T	c.(85-87)gCg>gTg	p.A29V	CUZD1_uc001lgs.3_5'UTR|CUZD1_uc010qtz.2_Intron|FAM24B_uc021qai.1_Missense_Mutation_p.A29V|LOC399815_uc001lgu.3_5'Flank	NM_152644	NP_689857	Q8N5W8	FA24B_HUMAN	Homo sapiens family with sequence similarity 24, member B (FAM24B), transcript variant 1, mRNA.	29						extracellular region		p.A29T(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4		all_neural(114;0.0765)|Lung NSC(174;0.163)|all_lung(145;0.205)		Colorectal(40;0.136)|COAD - Colon adenocarcinoma(40;0.141)		TCACTTTAGCGCGTTGTGTAT	0.473000														31			22		0	0	1	0	0
CDH1	999	broad.mit.edu	37	16	68847244	68847244	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:68847244C>T	uc002ewg.1	+	8	1290	c.1166C>T	c.(1165-1167)gCt>gTt	p.A389V	CDH1_uc010vlj.1_Non-coding_Transcript|CDH1_uc010cfg.1_Intron	NM_004360	NP_004351	P12830	CADH1_HUMAN	Homo sapiens cadherin 1, type 1, E-cadherin (epithelial) (CDH1), mRNA.	389	Cadherin 3.				adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	Golgi apparatus|actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding	p.Y380_K440del(7)|p.?(1)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		GAGAACGAGGCTAACGTCGTA	0.493000			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer					71			35		0	0	1	0	0
TECPR1	25851	broad.mit.edu	37	7	97861270	97861270	+	Splice_Site	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:97861270G>A	uc003upg.3	-	13	2024	c.1819_splice	c.e13-1	p.S607_splice	TECPR1_uc003uph.1_Splice_Site_p.S537_splice	NM_015395	NP_056210	Q7Z6L1	TCPR1_HUMAN	Homo sapiens tectonin beta-propeller repeat containing 1 (TECPR1), mRNA.	607						integral to membrane	protein binding			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CACCCACACCGACTGCGCAGG	0.721000														12			6		0	0	1	0	0
SPATA17	128153	broad.mit.edu	37	1	217975157	217975157	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:217975157C>T	uc001hlh.1	+	8	996	c.970C>T	c.(970-972)Cga>Tga	p.R324*		NM_138796	NP_620151	Q96L03	SPT17_HUMAN	Homo sapiens spermatogenesis associated 17 (SPATA17), mRNA.	324						cytoplasm	calmodulin binding			endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)		AGAACAATTCCGAAGTGAAAA	0.294000														28			8		0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62292718	62292718	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:62292718C>A	uc001ntl.3	-	4	9471	c.9171G>T	c.(9169-9171)aaG>aaT	p.K3057N	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	3057					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CAATGTCCACCTTGGGTCCTG	0.488000														197			14		6.72482e-11	8.1643e-11	1	1	0
TAF15	8148	broad.mit.edu	37	17	34173933	34173933	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:34173933G>A	uc002hkd.3	+	15	1849	c.1763G>A	c.(1762-1764)cGc>cAc	p.R588H	TAF15_uc002hkc.3_Missense_Mutation_p.R585H	NM_139215	NP_631961	Q92804	RBP56_HUMAN	Homo sapiens TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa (TAF15), transcript variant 1, mRNA.	588	Arg/Gly-rich.				positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|RNA binding|nucleotide binding|protein binding|zinc ion binding		TAF15/NR4A3(33)	lung(1)|ovary(1)|skin(2)|stomach(1)	5		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		AATGATCAGCGCAACCGACCA	0.428000			T	"""TEC, CHN1, ZNF384"""	"""extraskeletal myxoid chondrosarcomas, ALL"""									51			32		0	0	1	0	0
MARCH2	51257	broad.mit.edu	37	19	8486897	8486897	+	Missense_Mutation	SNP	C	T	T	rs138648064		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:8486897C>T	uc002mjv.3	+	2	614	c.173C>T	c.(172-174)cCg>cTg	p.P58L	MARCH2_uc002mjw.3_Missense_Mutation_p.P58L|MARCH2_uc002mjx.3_Missense_Mutation_p.P58L	NM_016496	NP_057580	Q9P0N8	MARH2_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 2 (MARCH2), transcript variant 1, mRNA.	58					endocytosis	cytoplasmic vesicle|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(3)|skin(1)|urinary_tract(1)	10						TTGGACACACCGAGGTGAGTG	0.607000														33			16		0	0	1	0	0
NMD3	51068	broad.mit.edu	37	3	160945126	160945126	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:160945126A>C	uc003feb.1	+	3	390	c.271A>C	c.(271-273)Agt>Cgt	p.S91R	NMD3_uc003fec.3_Missense_Mutation_p.S91R|NMD3_uc003fed.1_Missense_Mutation_p.S91R	NM_015938	NP_057022	Q96D46	NMD3_HUMAN	Homo sapiens NMD3 homolog (S. cerevisiae) (NMD3), mRNA.	91					protein transport	cytoplasm|nucleolus|nucleoplasm				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(10)|ovary(1)|skin(1)|urinary_tract(2)	25			Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156)			AGCCCCTCTGAGTAAGGTAAG	0.348000														41			21		0	0	1	0	0
PRDM15	63977	broad.mit.edu	37	21	43222908	43222908	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:43222908G>A	uc002yzq.1	-	29	4116	c.4005C>T	c.(4003-4005)ggC>ggT	p.G1335G	PRDM15_uc002yzo.3_Silent_p.G1006G|PRDM15_uc002yzp.3_Silent_p.G1026G|PRDM15_uc002yzr.1_Silent_p.G1026G	NM_022115	NP_071398	P57071	PRD15_HUMAN	Homo sapiens PR domain containing 15 (PRDM15), transcript variant 1, mRNA.	1335					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G1335G(2)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						TGGTCTCGTCGCCTACACTGC	0.542000														108			68		0	0	1	0	0
GOLGA2P5	55592	broad.mit.edu	37	12	100567088	100567088	+	RNA	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:100567088C>A	uc021rcm.1	-	0		c.34G>T			GOLGA2P5_uc001tgz.4_Non-coding_Transcript					Homo sapiens golgin A2 pseudogene 5 (GOLGA2P5), transcript variant 1, non-coding RNA.																		GGGGTATGGCCTTAATGCTCC	0.507000														14			3		0.115264	0.116841	1	1	0
PCDHGC5	56097	broad.mit.edu	37	5	140774315	140774315	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140774315C>A	uc003lkd.2	+	0	2833	c.1935C>A	c.(1933-1935)gcC>gcA	p.A645A	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkb.4_Silent_p.A645A|PCDHGC5_uc003lkc.2_Intron	NM_032088	NP_114477	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 8 (PCDHGA8), transcript variant 1, mRNA.	647	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)			TCGTGGTGGCCGTCCAGGACC	0.677000														31			6		2.7689e-08	3.24273e-08	1	1	0
ALS2CR12	130540	broad.mit.edu	37	2	202172323	202172323	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:202172323G>A	uc010ftg.3	-	10	1242	c.798C>T	c.(796-798)ttC>ttT	p.F266F	ALS2CR12_uc002uya.4_Silent_p.F266F|ALS2CR12_uc010fth.3_Non-coding_Transcript	NM_139163	NP_631902	Q96Q35	AL2SB_HUMAN	Homo sapiens amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 12 (ALS2CR12), transcript variant 1, mRNA.	266					regulation of GTPase activity		protein binding	p.F266F(2)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)	21						ACTCCATTTCGAATTTTTTGG	0.383000														154			8		0	0	1	0	0
OR14I1	401994	broad.mit.edu	37	1	248845564	248845564	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:248845564C>T	uc001ieu.1	-	0	42	c.42G>A	c.(40-42)gaG>gaA	p.E14E		NM_001004734	NP_001004734	A6ND48	O14I1_HUMAN	Homo sapiens olfactory receptor, family 14, subfamily I, member 1 (OR14I1), mRNA.	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	35						TACCAGAAAACTCCATCAGCA	0.448000														16			17		0	0	1	0	0
GPX4	2879	broad.mit.edu	37	19	1106423	1106423	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:1106423G>A	uc021umh.1	+	5	722	c.637G>A	c.(637-639)Gtg>Atg	p.V213M	GPX4_uc021umg.1_Missense_Mutation_p.V176M|GPX4_uc021umf.1_Missense_Mutation_p.R183H	NM_001039848	NP_002076	P36969	GPX4_HUMAN	Homo sapiens glutathione peroxidase 4 (phospholipid hydroperoxidase) (GPX4), transcript variant 3, mRNA.	176					multicellular organismal development|phospholipid metabolic process		glutathione peroxidase activity|phospholipid-hydroperoxide glutathione peroxidase activity			endometrium(1)|kidney(2)	3		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	Glutathione(DB00143)	GAACGGCTGCGTGGTGAAGCG	0.647000														44			13		0	0	1	0	0
PDE6B	5158	broad.mit.edu	37	4	652779	652779	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:652779C>T	uc003gap.3	+	10	1493	c.1440C>T	c.(1438-1440)tgC>tgT	p.C480C	PDE6B_uc003gao.4_Silent_p.C480C|PDE6B_uc011buy.2_Silent_p.C201C	NM_000283	NP_001138764	P35913	PDE6B_HUMAN	Homo sapiens phosphodiesterase 6B, cGMP-specific, rod, beta (PDE6B), transcript variant 1, mRNA.	480					GMP metabolic process|cytosolic calcium ion homeostasis|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						CTGCTGACTGCGATGAGGACG	0.602000														26			8		0	0	1	0	0
PHAX	51808	broad.mit.edu	37	5	125939431	125939431	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:125939431A>G	uc003kua.2	+	1	314	c.266A>G	c.(265-267)aAc>aGc	p.N89S		NM_032177	NP_115553	Q9H814	PHAX_HUMAN	Homo sapiens phosphorylated adaptor for RNA export (PHAX), mRNA.	89	Necessary for interaction with CBP80 (By similarity).				ncRNA metabolic process|protein transport|snRNA export from nucleus|spliceosomal snRNP assembly	Cajal body|cytosol	RNA binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	8						AAATGTTTTAACCCTCCTCCC	0.433000														120			8		0	0	1	0	0
NRP1	8829	broad.mit.edu	37	10	33469177	33469177	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:33469177G>T	uc001iwx.4	-	16	3122	c.2599C>A	c.(2599-2601)Ctg>Atg	p.L867M	NRP1_uc001iwv.4_Missense_Mutation_p.L850M|NRP1_uc001iwy.4_Missense_Mutation_p.L860M|NRP1_uc009xlz.3_Missense_Mutation_p.L861M|NRP1_uc001iww.4_Missense_Mutation_p.L679M	NM_003873	NP_003864	O14786	NRP1_HUMAN	Homo sapiens neuropilin 1 (NRP1), transcript variant 1, mRNA.	867					axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	AGGACCCCCAGGGCACTCATG	0.527000														115			13		0.00244969	0.00257145	1	1	0
CYP4B1	1580	broad.mit.edu	37	1	47279658	47279658	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:47279658A>G	uc001cqn.4	+	5	782	c.698A>G	c.(697-699)cAt>cGt	p.H233R	CYP4B1_uc009vyl.1_Missense_Mutation_p.H69R|CYP4B1_uc001cqm.4_Missense_Mutation_p.H232R|CYP4B1_uc009vym.3_Missense_Mutation_p.H218R|CYP4B1_uc010omk.2_Missense_Mutation_p.H69R|CYP4B1_uc010oml.1_Missense_Mutation_p.H70R	NM_001099772	NP_001093242	P13584	CP4B1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily B, polypeptide 1 (CYP4B1), transcript variant 1, mRNA.	232					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)					TTCCAGTACCATAATGACTTC	0.587000														125			15		0	0	1	0	0
CDAN1	146059	broad.mit.edu	37	15	43021271	43021271	+	Silent	SNP	G	A	A	rs139104502	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:43021271G>A	uc001zql.3	-	18	2712	c.2595C>T	c.(2593-2595)acC>acT	p.T865T	CDAN1_uc001zqj.3_Non-coding_Transcript|CDAN1_uc001zqk.3_Silent_p.T191T	NM_138477	NP_612486	Q8IWY9	CDAN1_HUMAN	Homo sapiens congenital dyserythropoietic anemia, type I (CDAN1), mRNA.	865						integral to membrane	protein binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		CGAACTCTACGGTCCGGCGCA	0.562000														79			6		0	0	1	0	0
HS6ST2	90161	broad.mit.edu	37	X	132092388	132092388	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:132092388G>A	uc011mvd.1	-	1	659	c.243C>T	c.(241-243)gcC>gcT	p.A81A	HS6ST2_uc011mvb.1_5'Flank|HS6ST2_uc011mvc.1_5'Flank|HS6ST2_uc011mve.1_Silent_p.A81A	NM_001077188	NP_001070656	Q96MM7	H6ST2_HUMAN	Homo sapiens heparan sulfate 6-O-sulfotransferase 2 (HS6ST2), transcript variant L, mRNA.	81						integral to membrane	sulfotransferase activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2)	9	Acute lymphoblastic leukemia(192;0.000127)					GGGCGCACGCGGCTCCCGCCA	0.726000														12			4		0	0	1	0	0
NKTR	4820	broad.mit.edu	37	3	42678574	42678574	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:42678574C>A	uc003clo.3	+	12	1525	c.1378C>A	c.(1378-1380)Ctt>Att	p.L460I	NKTR_uc003clm.1_Missense_Mutation_p.L207I|NKTR_uc011azp.2_Intron|NKTR_uc003clp.3_Missense_Mutation_p.L207I|NKTR_uc003clq.1_Missense_Mutation_p.L350I|NKTR_uc003clr.1_Missense_Mutation_p.L207I|NKTR_uc003cls.3_Missense_Mutation_p.L160I	NM_005385	NP_005376	P30414	NKTR_HUMAN	Homo sapiens natural killer-tumor recognition sequence (NKTR), mRNA.	460					protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		GAGAAGGATTCTTATACCGTC	0.363000														35			23		2.89027e-11	3.52362e-11	1	1	0
MMS22L	253714	broad.mit.edu	37	6	97681832	97681832	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:97681832G>A	uc003ppb.3	-	11	1473	c.1207C>T	c.(1207-1209)Cga>Tga	p.R403*	MIR548H3_uc021zda.1_Intron|MMS22L_uc011eaf.2_Intron|MMS22L_uc010kcn.1_Nonsense_Mutation_p.R177*	NM_198468	NP_940870	Q6ZRQ5	MMS22_HUMAN	Homo sapiens MMS22-like, DNA repair protein (MMS22L), mRNA.	403					double-strand break repair via homologous recombination|replication fork processing	nuclear replication fork	protein binding			breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						AGATACATTCGTAATTGTTCT	0.343000														100			6		0	0	1	0	0
AGBL5	60509	broad.mit.edu	37	2	27277665	27277665	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:27277665C>T	uc002rie.3	+	4	936	c.719C>T	c.(718-720)gCa>gTa	p.A240V	AGBL5_uc002rid.3_Missense_Mutation_p.A240V|AGBL5_uc002rif.3_Non-coding_Transcript	NM_021831	NP_068603	Q8NDL9	CBPC5_HUMAN	Homo sapiens ATP/GTP binding protein-like 5 (AGBL5), transcript variant 1, mRNA.	240					protein branching point deglutamylation|proteolysis	cytosol|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	p.A240T(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTCCGTTTCGCAGGCAAGAGG	0.488000														86			11		0	0	1	0	0
VPS52	6293	broad.mit.edu	37	6	33236905	33236905	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:33236905C>T	uc003odm.1	-	5	644	c.434G>A	c.(433-435)cGg>cAg	p.R145Q	VPS52_uc003odn.1_Missense_Mutation_p.R20Q|VPS52_uc003odo.1_Missense_Mutation_p.R70Q|VPS52_uc011dqy.1_Missense_Mutation_p.R20Q|VPS52_uc011dqz.1_Missense_Mutation_p.R20Q|RPS18_uc003odp.1_5'Flank|RPS18_uc010jum.1_5'Flank	NM_022553	NP_072047	Q8N1B4	VPS52_HUMAN	Homo sapiens vacuolar protein sorting 52 homolog (S. cerevisiae) (VPS52), mRNA.	145					protein transport	Golgi apparatus|endosome membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						CTGCAGTGTCCGGATCTCAGA	0.542000														102			74		0	0	1	0	0
MORC3	23515	broad.mit.edu	37	21	37710107	37710107	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:37710107C>A	uc002yvi.3	+	3	399	c.323C>A	c.(322-324)tCt>tAt	p.S108Y	MORC3_uc021wiz.1_5'Flank	NM_015358	NP_056173	Q14149	MORC3_HUMAN	Homo sapiens MORC family CW-type zinc finger 3 (MORC3), mRNA.	108					cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization	PML body|aggresome|intermediate filament cytoskeleton	ATP binding|zinc ion binding			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						AAGTCGGGTTCTATGCGTCTG	0.423000														60			28		2.12542e-12	2.62166e-12	1	1	0
KLHDC7A	127707	broad.mit.edu	37	1	18809726	18809726	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:18809726C>T	uc001bax.3	+	0	2303	c.2251C>T	c.(2251-2253)Cgg>Tgg	p.R751W	KLHDC7A_uc009vpg.3_Intron	NM_152375	NP_689588	Q5VTJ3	KLD7A_HUMAN	Homo sapiens kelch domain containing 7A (KLHDC7A), mRNA.	751						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CAAGGAGCTGCGGAGTTTCCC	0.647000														45			29		0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152771814	152771814	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:152771814C>T	uc021zhb.1	-	24	3564	c.3341G>A	c.(3340-3342)aGc>aAc	p.S1114N	SYNE1_uc003qot.4_Missense_Mutation_p.S1121N|SYNE1_uc003qou.4_Missense_Mutation_p.S1114N|SYNE1_uc010kjb.1_Missense_Mutation_p.S1097N|SYNE1_uc003qow.3_Missense_Mutation_p.S409N|SYNE1_uc003qox.1_Missense_Mutation_p.S630N	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	1114					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	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)		CCTGTAGGTGCTGTCAATGGC	0.522000										HNSCC(10;0.0054)				138			104		0	0	1	0	0
CACNA1I	8911	broad.mit.edu	37	22	40054159	40054159	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:40054159G>A	uc003ayc.3	+	10	1995	c.1995G>A	c.(1993-1995)ccG>ccA	p.P665P	CACNA1I_uc003ayd.3_Silent_p.P630P|CACNA1I_uc003aye.3_Silent_p.P580P|CACNA1I_uc003ayf.3_Silent_p.P545P	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1I subunit (CACNA1I), transcript variant 1, mRNA.	665					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	CCCCACAGCCGGAGGAGCTGA	0.607000														75			30		0	0	1	0	0
GABRR2	2570	broad.mit.edu	37	6	89977468	89977468	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:89977468C>T	uc003pnb.2	-	5	749	c.741G>A	c.(739-741)aaG>aaA	p.K247K	GABRR2_uc011dzx.1_Silent_p.K123K	NM_002043	NP_002034	P28476	GBRR2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) receptor, rho 2 (GABRR2), mRNA.	247					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(10)|prostate(2)|urinary_tract(1)	21		all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0158)		ACAAGGAGATCTTCTCATCTG	0.403000														68			27		0	0	1	0	0
CSGALNACT2	55454	broad.mit.edu	37	10	43655966	43655966	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:43655966G>A	uc001jan.3	+	3	1238	c.903G>A	c.(901-903)aaG>aaA	p.K301K	CSGALNACT2_uc001jam.1_Silent_p.K301K	NM_018590	NP_061060	Q8N6G5	CGAT2_HUMAN	Homo sapiens chondroitin sulfate N-acetylgalactosaminyltransferase 2 (CSGALNACT2), mRNA.	301					chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process	Golgi cisterna membrane|integral to Golgi membrane	glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding			endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						ATCAAGACAAGAAGATTCATC	0.373000														31			23		0	0	1	0	0
IKZF4	64375	broad.mit.edu	37	12	56428881	56428881	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56428881C>T	uc001sjb.1	+	8	1683	c.1524C>T	c.(1522-1524)ggC>ggT	p.G508G	IKZF4_uc010sqa.1_Silent_p.G461G|IKZF4_uc001sjc.1_Silent_p.G508G|IKZF4_uc001sjd.1_Silent_p.G406G|IKZF4_uc009zoi.1_Silent_p.G463G|IKZF4_uc001sje.1_Silent_p.G467G	NM_022465	NP_071910	Q9H2S9	IKZF4_HUMAN	Homo sapiens IKAROS family zinc finger 4 (Eos) (IKZF4), mRNA.	508					negative regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|lung(3)|ovary(1)|prostate(1)	8			UCEC - Uterine corpus endometrioid carcinoma (6;0.025)|OV - Ovarian serous cystadenocarcinoma(18;0.123)			TATTGCGGGGCACCCCAGGCC	0.647000														50			44		0	0	1	0	0
FGF5	2250	broad.mit.edu	37	4	81188215	81188215	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:81188215C>A	uc003hmd.3	+	0	474	c.237C>A	c.(235-237)ttC>ttA	p.F79L	FGF5_uc003hme.3_Missense_Mutation_p.F79L	NM_004464	NP_004455	P12034	FGF5_HUMAN	Homo sapiens fibroblast growth factor 5 (FGF5), transcript variant 1, mRNA.	79					cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	fibroblast growth factor receptor binding|growth factor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22						AGAGCAGTTTCCAGTGGAGCC	0.612000														62			32		1.47244e-24	1.92332e-24	1	1	0
HEXIM1	10614	broad.mit.edu	37	17	43227297	43227297	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:43227297A>G	uc002iig.3	+	0	2614	c.740A>G	c.(739-741)gAg>gGg	p.E247G		NM_006460	NP_006451	O94992	HEXI1_HUMAN	Homo sapiens hexamethylene bis-acetamide inducible 1 (HEXIM1), mRNA.	247	Autoinhibitory acidic region; in absence of 7SK snRNA interacts with the basic region preventing interaction with P-TEFb and modulating subcellular localization.				negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	cyclin-dependent protein kinase inhibitor activity|protein binding|snRNA binding			breast(1)|kidney(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						GAAGGGGGTGAGGAGGATGGG	0.637000														37			4		0	0	1	0	0
MEPCE	56257	broad.mit.edu	37	7	100028273	100028273	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100028273C>T	uc003uuw.3	+	0	1020	c.632C>T	c.(631-633)gCg>gTg	p.A211V	ZCWPW1_uc003uut.3_5'Flank|ZCWPW1_uc011kjr.2_5'Flank|ZCWPW1_uc003uuu.1_5'Flank|ZCWPW1_uc011kjt.1_5'Flank|ZCWPW1_uc011kju.1_5'Flank|MEPCE_uc022ain.1_Intron|MEPCE_uc022aio.1_Intron|MEPCE_uc003uuv.3_5'UTR	NM_019606	NP_062552	Q7L2J0	MEPCE_HUMAN	Homo sapiens methylphosphate capping enzyme (MEPCE), transcript variant 1, mRNA.	211							methyltransferase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					ACTCTCAACGCGGAGACCCCT	0.552000														100			42		0	0	1	0	0
SYNJ1	8867	broad.mit.edu	37	21	34072157	34072157	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:34072157C>A	uc002yqh.2	-	3	587	c.587G>T	c.(586-588)aGa>aTa	p.R196I	SYNJ1_uc011ads.1_Missense_Mutation_p.R157I|SYNJ1_uc002yqf.2_Missense_Mutation_p.R157I|SYNJ1_uc002yqg.2_Missense_Mutation_p.R157I|SYNJ1_uc002yqi.2_Missense_Mutation_p.R196I	NM_003895	NP_003886	O43426	SYNJ1_HUMAN	Homo sapiens synaptojanin 1 (SYNJ1), transcript variant 1, mRNA.	157	SAC.						RNA binding|inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						CCAGAAAAATCTATTATCAGT	0.383000														30			13		1.05317e-09	1.25904e-09	1	1	0
ZNF160	90338	broad.mit.edu	37	19	53573045	53573045	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:53573045G>A	uc010eqk.3	-	6	1158	c.742C>T	c.(742-744)Cga>Tga	p.R248*	ZNF160_uc002qaq.4_Nonsense_Mutation_p.R248*|ZNF160_uc002qar.4_Nonsense_Mutation_p.R248*	NM_001102603	NP_942596	Q9HCG1	ZN160_HUMAN	Homo sapiens zinc finger protein 160 (ZNF160), transcript variant 3, mRNA.	248					hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		TTTGCTTTTCGTCTTTGTGTG	0.373000														91			48		0	0	1	0	0
TPM4	7171	broad.mit.edu	37	19	16192856	16192856	+	Splice_Site	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:16192856G>A	uc002ndi.2	+	3	492	c.374_splice	c.e3+1	p.R125_splice	TPM4_uc002ndj.2_Splice_Site_p.R89_splice|TPM4_uc002ndk.1_Splice_Site	NM_001145160	NP_001138632	P67936	TPM4_HUMAN	Homo sapiens tropomyosin 4 (TPM4), transcript variant 1, mRNA.	89					cellular component movement|muscle filament sliding|response to oxidative stress	cytosol|muscle thin filament tropomyosin|stress fiber	actin binding|calcium ion binding|structural constituent of muscle		TPM4/ALK(12)	breast(1)|large_intestine(3)	4						GAGAGTGAGAGGTAAGGACGC	0.537000			T	ALK	ALCL									6			13		0	0	1	0	0
COL25A1	84570	broad.mit.edu	37	4	109748331	109748331	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:109748331G>A	uc021xqo.1	-	31	1780	c.1724C>T	c.(1723-1725)gCt>gTt	p.A575V	COL25A1_uc003hze.1_Missense_Mutation_p.A575V|COL25A1_uc021xqp.1_Missense_Mutation_p.A575V|COL25A1_uc003hzg.3_Missense_Mutation_p.A575V|COL25A1_uc003hzd.3_Non-coding_Transcript|COL25A1_uc003hzf.3_Missense_Mutation_p.A372V	NM_198721	NP_942014	Q9BXS0	COPA1_HUMAN	Homo sapiens collagen, type XXV, alpha 1 (COL25A1), transcript variant 1, mRNA.	575	Collagen-like 7.					collagen|extracellular space	beta-amyloid binding|heparin binding			NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		CTCTCCCATAGCTCCTTTTTC	0.483000														26			13		0	0	1	0	0
RCE1	9986	broad.mit.edu	37	11	66612667	66612667	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:66612667G>A	uc001ojk.1	+	5	694	c.650G>A	c.(649-651)cGt>cAt	p.R217H	RCE1_uc001ojl.1_Missense_Mutation_p.R113H	NM_005133	NP_001027450	Q9Y256	FACE2_HUMAN	Homo sapiens RCE1 homolog, prenyl protein protease (S. cerevisiae) (RCE1), transcript variant 1, mRNA.	217					proteolysis	endoplasmic reticulum membrane|integral to plasma membrane	metalloendopeptidase activity			breast(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10						GAGCAGCTGCGTTTCCGCCAG	0.537000														22			15		0	0	1	0	0
SMC1A	8243	broad.mit.edu	37	X	53440256	53440256	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:53440256C>T	uc004dsg.3	-	3	610	c.541G>A	c.(541-543)Gac>Aac	p.D181N	SMC1A_uc011moe.2_Missense_Mutation_p.D159N|SMC1A_uc011mof.2_Intron	NM_006306	NP_006297	Q14683	SMC1A_HUMAN	Homo sapiens structural maintenance of chromosomes 1A (SMC1A), mRNA.	181					DNA repair|cell cycle checkpoint|cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage	cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm	ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						AACTGTGTGTCCTCTTCAGCC	0.483000														87			41		0	0	1	0	0
FHDC1	85462	broad.mit.edu	37	4	153886116	153886116	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:153886116G>A	uc003inf.2	+	7	1164	c.1089G>A	c.(1087-1089)caG>caA	p.Q363Q		NM_033393	NP_203751	Q9C0D6	FHDC1_HUMAN	Homo sapiens FH2 domain containing 1 (FHDC1), mRNA.	363	FH2.				actin cytoskeleton organization		actin binding		ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					ATCATGTTCAGAAGACTGCTA	0.303000														64			37		0	0	1	0	0
SFPQ	6421	broad.mit.edu	37	1	35650064	35650064	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:35650064C>T	uc001bys.3	-	9	2210	c.2117G>A	c.(2116-2118)cGa>cAa	p.R706Q		NM_005066	NP_005057	P23246	SFPQ_HUMAN	Homo sapiens splicing factor proline/glutamine-rich (SFPQ), mRNA.	706					DNA recombination|DNA repair|alternative nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|RNA binding|nucleotide binding|protein binding		SFPQ/TFE3(6)	NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				CATCTAAAATCGGGGTTTTTT	0.413000			T	TFE3	papillary renal cell									47			20		0	0	1	0	0
OR51A4	401666	broad.mit.edu	37	11	4967870	4967870	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:4967870C>T	uc010qys.2	-	0	461	c.461G>A	c.(460-462)aGc>aAc	p.S154N		NM_001005329	NP_001005329	Q8NGJ6	O51A4_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily A, member 4 (OR51A4), mRNA.	154					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.K153N(1)		large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		CAGGAGCATGCTCTTAAAGGA	0.423000														222			87		0	0	1	0	0
HSP90AB1	3326	broad.mit.edu	37	6	44219266	44219266	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:44219266G>A	uc003oxa.1	+	7	1319	c.1235G>A	c.(1234-1236)tGc>tAc	p.C412Y	HSP90AB1_uc011dvr.1_Missense_Mutation_p.C402Y|HSP90AB1_uc003oxb.1_Missense_Mutation_p.C412Y|HSP90AB1_uc011dvs.1_Missense_Mutation_p.C232Y|HSP90AB1_uc003oxc.1_Missense_Mutation_p.C50Y	NM_007355	NP_031381	P08238	HS90B_HUMAN	Homo sapiens heat shock protein 90kDa alpha (cytosolic), class B member 1 (HSP90AB1), mRNA.	412					axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein	cytosol|melanosome	ATP binding|TPR domain binding|nitric-oxide synthase regulator activity|unfolded protein binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GTTAAGAAGTGCCTTGAGCTC	0.418000														14			13		0	0	1	0	0
C11orf85	283129	broad.mit.edu	37	11	64708114	64708114	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:64708114C>A	uc001ocb.1	-	7	542	c.478G>T	c.(478-480)Ggg>Tgg	p.G160W	C11orf85_uc001occ.1_Non-coding_Transcript|C11orf85_uc001ocd.1_Missense_Mutation_p.R103M	NM_001037225	NP_001032302	Q3KP22	CK085_HUMAN	Homo sapiens chromosome 11 open reading frame 85 (C11orf85), mRNA.	160										breast(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(2)	7						TTTTCTTTCCCTATTCTGTTA	0.408000														80			6		0.00198382	0.00208369	1	1	0
PEX11G	92960	broad.mit.edu	37	19	7550889	7550889	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:7550889G>A	uc002mgk.1	-	1	93	c.84C>T	c.(82-84)tgC>tgT	p.C28C	PEX11G_uc002mgl.1_5'UTR	NM_080662	NP_542393	Q96HA9	PX11C_HUMAN	Homo sapiens peroxisomal biogenesis factor 11 gamma (PEX11G), mRNA.	28						integral to membrane|peroxisomal membrane				central_nervous_system(1)|cervix(1)|endometrium(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	7						CAACCAGCTGGCAGCAGTACC	0.607000														13			9		0	0	1	0	0
MSH6	2956	broad.mit.edu	37	2	48026290	48026290	+	Missense_Mutation	SNP	G	A	A	rs147737737		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:48026290G>A	uc002rwd.4	+	3	1320	c.1168G>A	c.(1168-1170)Gat>Aat	p.D390N	MSH6_uc002rwc.2_Missense_Mutation_p.D390N|MSH6_uc010fbj.3_Missense_Mutation_p.D88N|MSH6_uc010yoj.2_Missense_Mutation_p.D88N	NM_000179	NP_000170	P52701	MSH6_HUMAN	Homo sapiens mutS homolog 6 (E. coli) (MSH6), mRNA.	390					DNA damage response, signal transduction resulting in induction of apoptosis|determination of adult lifespan|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding	p.D390N(2)|p.0?(2)|p.D390D(1)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TGATCACCCCGATTTTGATGC	0.448000			"""Mis, N, F, S"""		colorectal	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome					68			9		0	0	1	0	0
BAI3	577	broad.mit.edu	37	6	70071116	70071116	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:70071116T>C	uc010kak.3	+	27	4227	c.3951T>C	c.(3949-3951)aaT>aaC	p.N1317N	BAI3_uc003pev.4_Silent_p.N1317N|BAI3_uc011dxx.2_Silent_p.N523N	NM_001704	NP_001695	O60242	BAI3_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 3 (BAI3), mRNA.	1317					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				GTTCTGTAAATAACCAGCCTT	0.393000														55			5		0	0	1	0	0
TBC1D2	55357	broad.mit.edu	37	9	100983342	100983342	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:100983342G>A	uc011lvb.2	-	5	1327	c.1147C>T	c.(1147-1149)Cgg>Tgg	p.R383W	TBC1D2_uc004ayq.3_Missense_Mutation_p.R383W|TBC1D2_uc004ayr.3_Missense_Mutation_p.R165W	NM_018421	NP_060891	Q9BYX2	TBD2A_HUMAN	Homo sapiens TBC1 domain family, member 2 (TBC1D2), mRNA.	383	Interaction with RAC1.					cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		AGGCTCTCCCGCTCCTGCTCC	0.687000														10			5		0	0	1	0	0
CLDN7	1366	broad.mit.edu	37	17	7165231	7165231	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7165231C>A	uc002gfm.4	-	0	1034	c.132G>T	c.(130-132)caG>caT	p.Q44H	CLDN7_uc010cmc.3_Missense_Mutation_p.Q44H|CLDN7_uc002gfn.4_Missense_Mutation_p.Q44H	NM_001307	NP_001298	O95471	CLD7_HUMAN	Homo sapiens claudin 7 (CLDN7), transcript variant 1, mRNA.	44					calcium-independent cell-cell adhesion	integral to membrane|lateral plasma membrane|tight junction	identical protein binding|structural molecule activity			kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	6						TGTACATGGCCTGGGCCGTGA	0.632000														13			15		2.61681e-11	3.19342e-11	1	1	0
CCDC148	130940	broad.mit.edu	37	2	159195527	159195527	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:159195527T>G	uc002tzq.3	-	5	871	c.557A>C	c.(556-558)aAt>aCt	p.N186T	CCDC148_uc002tzr.3_Missense_Mutation_p.N34T|CCDC148_uc010foh.3_Intron|CCDC148_uc010fok.2_Missense_Mutation_p.N100T|CCDC148_uc010foi.2_Missense_Mutation_p.N133T|CCDC148_uc010foj.2_Missense_Mutation_p.N34T|CCDC148_uc002tzs.2_Missense_Mutation_p.N186T	NM_138803	NP_620158	Q8NFR7	CC148_HUMAN	Homo sapiens coiled-coil domain containing 148 (CCDC148), transcript variant 1, mRNA.	186										endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						TGAAAGATCATTTTCTATTCT	0.313000														101			12		0	0	1	0	0
PABPC1P2	728773	broad.mit.edu	37	2	147345992	147345992	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:147345992G>A	uc002twf.4	+	0	1368	c.452G>A	c.(451-453)tGc>tAc	p.C151Y						Homo sapiens poly(A) binding protein, cytoplasmic 1 pseudogene 2 (PABPC1P2), non-coding RNA.																		GAGGGTGGTTGCAGCAAAAGG	0.398000														21			9		0	0	1	0	0
PLG	5340	broad.mit.edu	37	6	161173248	161173248	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:161173248G>A	uc003qtm.4	+	17	2339	c.2227G>A	c.(2227-2229)Gaa>Aaa	p.E743K		NM_000301	NP_000292	P00747	PLMN_HUMAN	Homo sapiens plasminogen (PLG), transcript variant 1, mRNA.	743	Peptidase S1.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	CCAATCCACCGAACTCTGTGC	0.488000														49			19		0	0	1	0	0
PROM1	8842	broad.mit.edu	37	4	15985894	15985894	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:15985894C>T	uc003goo.2	-	21	2577	c.2365G>A	c.(2365-2367)Gac>Aac	p.D789N	PROM1_uc003gor.2_Missense_Mutation_p.D789N|PROM1_uc003gos.2_Missense_Mutation_p.D780N|PROM1_uc003got.2_Missense_Mutation_p.D789N|PROM1_uc003gou.2_Missense_Mutation_p.D780N|PROM1_uc003gop.2_Missense_Mutation_p.D780N|PROM1_uc003goq.3_Missense_Mutation_p.D780N	NM_006017	NP_006008	O43490	PROM1_HUMAN	Homo sapiens prominin 1 (PROM1), transcript variant 1, mRNA.	789					camera-type eye photoreceptor cell differentiation|photoreceptor cell maintenance|retina layer formation	apical plasma membrane|cell surface|integral to plasma membrane|microvillus membrane|photoreceptor outer segment membrane|plasma membrane	beta-actinin binding|cadherin binding			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2)	35						ACCAAGGGGTCGATAATGTAG	0.393000														8			6		0	0	1	0	0
DCAF13	25879	broad.mit.edu	37	8	104453788	104453788	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:104453788A>C	uc003yln.3	+	9	1925	c.1648A>C	c.(1648-1650)Aaa>Caa	p.K550Q		NM_015420	NP_056235	Q9NV06	DCA13_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 13 (DCAF13), mRNA.	398					rRNA processing	CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex				NS(1)|breast(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						ACATCTACCAAAATCTATCTA	0.383000														126			10		0	0	1	0	0
RTEL1	51750	broad.mit.edu	37	20	62293280	62293280	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:62293280C>T	uc021wge.1	+	2	549	c.379C>T	c.(379-381)Cgg>Tgg	p.R127W	RTEL1_uc011abc.2_Non-coding_Transcript|RTEL1_uc002yfu.2_Missense_Mutation_p.R127W|RTEL1_uc011abd.2_Missense_Mutation_p.R127W|RTEL1_uc002yfw.3_Non-coding_Transcript|RTEL1_uc002yfv.2_Missense_Mutation_p.R127W|RTEL1_uc011abe.1_5'UTR	NM_016434	NP_057518	Q9NZ71	RTEL1_HUMAN	Homo sapiens regulator of telomere elongation helicase 1 (RTEL1), transcript variant 1, mRNA.	127	Helicase ATP-binding.				DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			CAACGAGCTTCGGAACACCTC	0.552000														28			3		0	0	1	0	0
DDX41	51428	broad.mit.edu	37	5	176939798	176939798	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:176939798G>A	uc003mho.3	-	12	1403	c.1382C>T	c.(1381-1383)gCc>gTc	p.A461V	DOK3_uc003mhi.4_5'Flank|DOK3_uc003mhj.4_5'Flank|DOK3_uc003mhk.3_5'Flank|DDX41_uc003mhn.3_Missense_Mutation_p.A330V|DDX41_uc003mhp.3_Missense_Mutation_p.A330V|DDX41_uc003mhq.1_Missense_Mutation_p.A241V	NM_016222	NP_057306	Q9UJV9	DDX41_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 41 (DDX41), mRNA.	461	Helicase C-terminal.				apoptosis|multicellular organismal development	catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|RNA binding|protein binding|zinc ion binding					all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			CCCATGGATGGCTACGGCCTC	0.587000														58			39		0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124181472	124181472	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:124181472C>A	uc003ehg.3	+	24	4144	c.4017C>A	c.(4015-4017)ttC>ttA	p.F1339L	KALRN_uc010hrv.1_Missense_Mutation_p.F1330L|KALRN_uc003ehf.1_Missense_Mutation_p.F1339L|KALRN_uc011bjy.1_Missense_Mutation_p.F1330L|KALRN_uc003ehh.1_Missense_Mutation_p.F685L	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA.	1339	DH 1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						TCTACGATTTCCATAACAAGT	0.483000														16			10		1.76689e-08	2.07166e-08	1	1	0
SESN2	83667	broad.mit.edu	37	1	28599172	28599172	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:28599172G>A	uc001bps.3	+	4	1014	c.618G>A	c.(616-618)tcG>tcA	p.S206S		NM_031459	NP_113647	P58004	SESN2_HUMAN	Homo sapiens sestrin 2 (SESN2), mRNA.	206					cell cycle arrest	cytoplasm|nucleus		p.H205Y(1)		cervix(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	27		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;2.98e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|READ - Rectum adenocarcinoma(331;0.0649)		ACTGCCACTCGCTCTCCTCCT	0.642000														47			38		0	0	1	0	0
MIA3	375056	broad.mit.edu	37	1	222838933	222838933	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:222838933G>A	uc001hnl.3	+	27	5705	c.5696G>A	c.(5695-5697)tGt>tAt	p.C1899Y	MIA3_uc001hnm.3_Missense_Mutation_p.C777Y	NM_198551	NP_940953	Q5JRA6	MIA3_HUMAN	Homo sapiens melanoma inhibitory activity family, member 3 (MIA3), mRNA.	1899					exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		AGCCAGGACTGTTCACAGGCT	0.473000														167			13		0	0	1	0	0
DLX6	1750	broad.mit.edu	37	7	96639119	96639119	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:96639119G>A	uc022ahu.1	+	2	642	c.642G>A	c.(640-642)tgG>tgA	p.W214*	DLX6-AS1_uc003uol.3_Intron|DLX6-AS1_uc010lfo.1_Intron	NM_005222	NP_005213	P56179	DLX6_HUMAN	Homo sapiens distal-less homeobox 6 (DLX6), mRNA.	96					nervous system development|skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.A214V(1)		central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(2)|urinary_tract(1)	12	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					TGAAGATATGGTTTCAGAACA	0.478000														58			75		0	0	1	0	0
TSPAN17	26262	broad.mit.edu	37	5	176084557	176084557	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:176084557C>T	uc003met.3	+	8	1086	c.857C>T	c.(856-858)aCg>aTg	p.T286M	TSPAN17_uc003mes.3_3'UTR|TSPAN17_uc003meu.3_Missense_Mutation_p.T283M|TSPAN17_uc003mew.3_3'UTR	NM_012171	NP_036303	Q96FV3	TSN17_HUMAN	Homo sapiens tetraspanin 17 (TSPAN17), transcript variant 1, mRNA.	130						integral to membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|urinary_tract(1)	13	all_cancers(89;0.00141)|Renal(175;0.000269)|Lung NSC(126;0.00814)|all_lung(126;0.0133)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CACTGGCTTACGCCCACCATT	0.562000														16			6		0	0	1	0	0
FBXL2	25827	broad.mit.edu	37	3	33418801	33418801	+	Silent	SNP	C	T	T	rs139204865		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:33418801C>T	uc003cfp.3	+	10	896	c.825C>T	c.(823-825)gaC>gaT	p.D275D	FBXL2_uc011axm.1_Non-coding_Transcript|FBXL2_uc011axn.1_Non-coding_Transcript|FBXL2_uc011axp.2_Silent_p.D191D|FBXL2_uc021wuy.1_Silent_p.D207D|FBXL2_uc011axo.2_Silent_p.D170D|FBXL2_uc011axr.1_Non-coding_Transcript|FBXL2_uc011axq.1_Non-coding_Transcript|FBXL2_uc011axs.1_Non-coding_Transcript	NM_012157	NP_036289	Q9UKC9	FBXL2_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 2 (FBXL2), transcript variant 1, mRNA.	275					interspecies interaction between organisms|proteolysis	cytoplasm|membrane	protein binding|ubiquitin-protein ligase activity			endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|urinary_tract(1)	15						ATTTGACTGACGCAGGTTTTA	0.423000														60			27		0	0	1	0	0
IL6ST	3572	broad.mit.edu	37	5	55265611	55265611	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:55265611G>A	uc003jqq.3	-	3	450	c.137C>T	c.(136-138)gCa>gTa	p.A46V	IL6ST_uc003jqp.3_Missense_Mutation_p.A46V|IL6ST_uc010iwd.3_Intron|IL6ST_uc011cqk.2_5'UTR|IL6ST_uc003jqr.3_Missense_Mutation_p.A46V|IL6ST_uc010iwb.3_Missense_Mutation_p.A46V|IL6ST_uc010iwf.1_Intron	NM_002184	NP_002175	P40189	IL6RB_HUMAN	Homo sapiens interleukin 6 signal transducer (gp130, oncostatin M receptor) (IL6ST), transcript variant 1, mRNA.	46	Ig-like C2-type.				interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of T cell proliferation|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production	ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex	ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity			breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				CACACAAACTGCAGTGAAATT	0.308000			O		hepatocellular ca									48			27		0	0	1	0	0
UGT2A1	10941	broad.mit.edu	37	4	70512785	70512785	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:70512785A>G	uc011caq.2	-	1	694	c.578T>C	c.(577-579)gTt>gCt	p.V193A	UGT2A1_uc010ihu.3_Missense_Mutation_p.V193A|UGT2A1_uc003hem.4_Missense_Mutation_p.V193A|UGT2A1_uc010iht.3_Missense_Mutation_p.V193A	NM_001252274	NP_001239203	Q9Y4X1	UD2A1_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus (UGT2A1), transcript variant 2, mRNA.	193					detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						AACAGCAGGAACATAGGAAGG	0.413000														45			17		0	0	1	0	0
VWF	7450	broad.mit.edu	37	12	6091141	6091141	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:6091141C>A	uc001qnn.1	-	41	7348	c.7098G>T	c.(7096-7098)gaG>gaT	p.E2366D	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	Homo sapiens von Willebrand factor (VWF), mRNA.	2366					blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	Weibel-Palade body|endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein N-terminus binding|protein homodimerization activity			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CTCTTTTGCACTCCTCCTTCC	0.597000														27			16		2.32078e-09	2.76369e-09	1	1	0
CD163L1	283316	broad.mit.edu	37	12	7527243	7527243	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:7527243G>A	uc010sge.2	-	12	3260	c.3234C>T	c.(3232-3234)agC>agT	p.S1078S	CD163L1_uc001qsy.3_Silent_p.S1068S	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA.	1068	SRCR 10.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	p.D1069fs*27(1)|p.S1068S(1)		breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						CGTGGGCATCGCTCAGGTCCC	0.622000											OREG0021653	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		18			11		0	0	1	0	0
SH3RF3	344558	broad.mit.edu	37	2	110015264	110015264	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:110015264G>A	uc010ywt.1	+	3	1164	c.1164G>A	c.(1162-1164)acG>acA	p.T388T		NM_001099289	NP_001092759	Q8TEJ3	SH3R3_HUMAN	Homo sapiens SH3 domain containing ring finger 3 (SH3RF3), mRNA.	388							zinc ion binding	p.T388M(2)		endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2)	18						TCAGTGTGACGCACAGATCCT	0.592000														9			9		0	0	1	0	0
ZNF280A	129025	broad.mit.edu	37	22	22868777	22868777	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:22868777G>T	uc002zwe.3	-	1	1431	c.1178C>A	c.(1177-1179)cCc>cAc	p.P393H	abParts_uc021wml.1_Intron|abParts_uc021wmm.1_Intron|ZNF280A_uc021wmo.1_Missense_Mutation_p.P393H	NM_080740	NP_542778	P59817	Z280A_HUMAN	Homo sapiens zinc finger protein 280A (ZNF280A), mRNA.	393					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		GCACACGTAGGGCATTTCGCC	0.443000														69			30		9.04072e-19	1.16106e-18	1	1	0
CALB1	793	broad.mit.edu	37	8	91094331	91094331	+	Splice_Site	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:91094331C>A	uc003yel.1	-	2	262	c.80_splice	c.e2-1	p.G27_splice	CALB1_uc003yem.1_Splice_Site|CALB1_uc011lge.1_5'Flank	NM_004929	NP_004920	P05937	CALB1_HUMAN	Homo sapiens calbindin 1, 28kDa (CALB1), mRNA.	27	EF-hand 1.					nucleus	calcium ion binding|vitamin D binding			breast(1)|kidney(1)|lung(8)|pancreas(1)	11			BRCA - Breast invasive adenocarcinoma(11;0.00953)			TAACCACTTCCTGCAAAGACA	0.502000														101			7		0.00198382	0.00208369	1	1	0
ZNF791	163049	broad.mit.edu	37	19	12739032	12739032	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:12739032C>A	uc002mua.2	+	3	851	c.689C>A	c.(688-690)tCt>tAt	p.S230Y	ZNF791_uc010xml.1_Missense_Mutation_p.S198Y|ZNF791_uc010dyu.1_Missense_Mutation_p.S121Y|ZNF791_uc010xmm.1_Missense_Mutation_p.S121Y	NM_153358	NP_699189	Q3KP31	ZN791_HUMAN	Homo sapiens zinc finger protein 791 (ZNF791), mRNA.	230					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						TGTTCCAGTTCTATTCGAGTA	0.428000														25			15		0.000422831	0.000453626	1	1	0
MIOS	54468	broad.mit.edu	37	7	7612975	7612975	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:7612975G>T	uc003srf.3	+	3	1177	c.869G>T	c.(868-870)aGt>aTt	p.S290I	MIOS_uc010ktp.1_Missense_Mutation_p.S290I	NM_019005	NP_061878	Q9NXC5	MIO_HUMAN	Homo sapiens missing oocyte, meiosis regulator, homolog (Drosophila) (MIOS), mRNA.	290										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						ACAAGGGATAGTAATATTATT	0.408000														139			8		1.06961e-07	1.2399e-07	1	1	0
MMP3	4314	broad.mit.edu	37	11	102709846	102709846	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:102709846A>G	uc001phj.1	-	6	1129	c.1064T>C	c.(1063-1065)tTt>tCt	p.F355S	DD413629_uc021qpi.1_5'Flank	NM_002422	NP_002413	P08254	MMP3_HUMAN	Homo sapiens matrix metallopeptidase 3 (stromelysin 1, progelatinase) (MMP3), mRNA.	355	Hemopexin-like 2.				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)|Simvastatin(DB00641)	ATTACCTTTAAAAATGAAAAC	0.368000														68			7		0	0	1	0	0
OR1N2	138882	broad.mit.edu	37	9	125315826	125315826	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:125315826C>T	uc011lyx.2	+	0	378	c.378C>T	c.(376-378)ggC>ggT	p.G126G		NM_001004457	NP_001004457	Q8NGR9	OR1N2_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily N, member 2 (OR1N2), mRNA.	126					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						TGTTTGGTGGCCTTGACAACT	0.507000														76			50		0	0	1	0	0
SF1	7536	broad.mit.edu	37	11	64533621	64533621	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:64533621G>A	uc001obb.2	-	12	2041	c.1589C>T	c.(1588-1590)aCg>aTg	p.T530M	SF1_uc010rnm.2_Intron|SF1_uc010rnn.2_Missense_Mutation_p.T504M|SF1_uc001oaz.2_Intron|SF1_uc001oba.2_Missense_Mutation_p.T530M|SF1_uc001obd.2_Intron|SF1_uc001obc.2_Intron|SF1_uc001obe.2_Intron|SF1_uc010rno.2_Intron|SF1_uc021qky.1_5'Flank	NM_004630	NP_001171502	Q15637	SF01_HUMAN	Homo sapiens splicing factor 1 (SF1), transcript variant 1, mRNA.	530	Pro-rich.				nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ribosome|spliceosomal complex	RNA binding|protein binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						GGTGGTAGTCGTCGTATCTGG	0.677000														20			14		0	0	1	0	0
WDR67	93594	broad.mit.edu	37	8	124117638	124117638	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:124117638T>C	uc003ypp.2	+	7	1233	c.1143T>C	c.(1141-1143)tcT>tcC	p.S381S	WDR67_uc011lig.2_Silent_p.S381S|WDR67_uc011lih.2_Silent_p.S271S|WDR67_uc003ypq.2_Non-coding_Transcript|WDR67_uc003yps.2_Silent_p.S94S	NM_145647	NP_663622	Q96DN5	WDR67_HUMAN	Homo sapiens WD repeat domain 67 (WDR67), transcript variant 1, mRNA.	381						centrosome	Rab GTPase activator activity			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	Lung NSC(37;7e-10)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			CAGCAAAATCTAGGGAAAGCA	0.333000														29			5		0	0	1	0	0
PRSS58	136541	broad.mit.edu	37	7	141952370	141952370	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:141952370G>A	uc003vxb.3	-	3	818	c.498C>T	c.(496-498)cgC>cgT	p.R166R	PRSS58_uc003vxc.4_Silent_p.R166R	NM_001001317	NP_001001317	Q8IYP2	PRS58_HUMAN	Homo sapiens protease, serine, 58 (PRSS58), mRNA.	166	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						TATAGGCATCGCGACACTGAG	0.428000														158			22		0	0	1	0	0
KIAA0913	23053	broad.mit.edu	37	10	75548921	75548921	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:75548921C>T	uc001jvj.3	+	2	685	c.430C>T	c.(430-432)Cgg>Tgg	p.R144W	KIAA0913_uc001jve.3_Missense_Mutation_p.R144W|KIAA0913_uc009xrl.3_Missense_Mutation_p.R144W|KIAA0913_uc001jvf.3_Missense_Mutation_p.R144W|KIAA0913_uc001jvh.3_5'Flank|KIAA0913_uc001jvi.3_5'Flank|KIAA0913_uc010qkr.2_5'Flank	NM_001242488	NP_001229417	A7E2V4	K0913_HUMAN	Homo sapiens KIAA0913 (KIAA0913), transcript variant 3, mRNA.	144							zinc ion binding	p.R144W(4)		breast(3)|cervix(1)|endometrium(6)|kidney(3)|lung(6)	19	Prostate(51;0.0112)					CTTCCGCATGCGGGCTGTGAA	0.572000														20			27		0	0	1	0	0
EXOC3L1	283849	broad.mit.edu	37	16	67219349	67219349	+	Missense_Mutation	SNP	G	A	A	rs142958191		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:67219349G>A	uc002erx.1	-	9	1782	c.1541C>T	c.(1540-1542)gCc>gTc	p.A514V	KIAA0895L_uc002ert.3_5'Flank|KIAA0895L_uc002eru.3_5'Flank|EXOC3L1_uc002erv.1_Non-coding_Transcript|EXOC3L1_uc002erw.1_Missense_Mutation_p.A165V|EXOC3L1_uc010vje.1_Missense_Mutation_p.A411V|EXOC3L1_uc002ery.1_Missense_Mutation_p.A416V	NM_178516	NP_848611	Q86VI1	EX3L1_HUMAN	Homo sapiens exocyst complex component 3-like 1 (EXOC3L1), mRNA.	514			A -> D (in a breast cancer sample; somatic mutation).		exocytosis|peptide hormone secretion	exocyst|stored secretory granule|transport vesicle		p.A514D(2)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	21						TGGAGCCAAGGCCCCTGAAGG	0.642000											OREG0023874	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		60			29		0	0	1	0	0
BRSK1	84446	broad.mit.edu	37	19	55814691	55814691	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:55814691A>G	uc002qkf.3	+	12	1216	c.1089A>G	c.(1087-1089)gaA>gaG	p.E363E	BRSK1_uc002qkg.3_Silent_p.E347E|BRSK1_uc002qkh.3_Silent_p.E42E|Mir_324_uc021vbt.1_5'Flank	NM_032430	NP_115806	Q8TDC3	BRSK1_HUMAN	Homo sapiens BR serine/threonine kinase 1 (BRSK1), mRNA.	347					G2/M transition DNA damage checkpoint|establishment of cell polarity|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		AGAACCAAGAAAAGATGATAT	0.552000														59			5		0	0	1	0	0
CCNB3	85417	broad.mit.edu	37	X	50085330	50085330	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:50085330A>C	uc004dox.4	+	8	3944	c.3646A>C	c.(3646-3648)Aaa>Caa	p.K1216Q	CCNB3_uc004doy.3_Missense_Mutation_p.K1216Q|CCNB3_uc004doz.3_Missense_Mutation_p.K112Q|CCNB3_uc010njq.3_Missense_Mutation_p.K108Q|CCNB3_uc004dpa.3_Missense_Mutation_p.K55Q	NM_033031	NP_149020	Q8WWL7	CCNB3_HUMAN	Homo sapiens cyclin B3 (CCNB3), transcript variant 3, mRNA.	1216					cell division|meiosis|regulation of G2/M transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					GATTGCAGCAAAATTTGAGGT	0.408000														31			18		0	0	1	0	0
RNF167	26001	broad.mit.edu	37	17	4844395	4844395	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:4844395G>T	uc002fzs.3	+	2	557	c.108G>T	c.(106-108)atG>atT	p.M36I	SLC25A11_uc002fzp.2_5'Flank|SLC25A11_uc002fzo.2_5'Flank|SLC25A11_uc021tod.1_5'Flank|SLC25A11_uc021toe.1_5'Flank|RNF167_uc002fzw.2_Missense_Mutation_p.M36I|RNF167_uc002fzu.3_Missense_Mutation_p.M36I|RNF167_uc002fzy.3_5'Flank	NM_015528	NP_056343	Q9H6Y7	RN167_HUMAN	Homo sapiens ring finger protein 167 (RNF167), mRNA.	36					negative regulation of cell cycle|protein polyubiquitination	cytoplasm|endomembrane system|integral to membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|large_intestine(2)|lung(1)	4						ATGCCAGCATGGACTTTGCAG	0.552000														33			15		2.31682e-05	2.55671e-05	1	1	0
RBMS2	5939	broad.mit.edu	37	12	56980711	56980711	+	Splice_Site	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56980711G>T	uc001sln.2	+	10	1150	c.951_splice	c.e10+1	p.S317_splice	RBMS2_uc010sqp.1_Splice_Site_p.S172_splice|RBMS2_uc010sqq.1_Splice_Site_p.S192_splice|RBMS2_uc009zou.2_Splice_Site_p.S74_splice	NM_002898	NP_002889	Q15434	RBMS2_HUMAN	Homo sapiens RNA binding motif, single stranded interacting protein 2 (RBMS2), mRNA.	317					RNA processing	nucleus	RNA binding|nucleotide binding			breast(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(3)|skin(2)|urinary_tract(1)	18						GCAGCCTTCAGTGAGTATTCA	0.458000														67			31		1.26612e-14	1.58817e-14	1	1	0
HDGFRP2	84717	broad.mit.edu	37	19	4499545	4499545	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:4499545C>T	uc002mao.3	+	13	1726	c.1633C>T	c.(1633-1635)Cgg>Tgg	p.R545W	HDGFRP2_uc002map.3_Missense_Mutation_p.R545W|HDGFRP2_uc010dtz.1_Non-coding_Transcript|HDGFRP2_uc002maq.1_Missense_Mutation_p.R10W|HDGFRP2_uc010dua.3_Missense_Mutation_p.R10W	NM_001001520	NP_001001520	Q7Z4V5	HDGR2_HUMAN	Homo sapiens hepatoma-derived growth factor-related protein 2 (HDGFRP2), transcript variant 1, mRNA.	545					transcription, DNA-dependent	nucleus	DNA binding|protein binding										AGTCTATACCCGGCTCAAGTC	0.592000														12			3		0	0	1	0	0
VWCE	220001	broad.mit.edu	37	11	61026580	61026580	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:61026580G>A	uc001nra.3	-	19	2714	c.2435C>T	c.(2434-2436)aCt>aTt	p.T812I	VWCE_uc001nrb.3_Non-coding_Transcript	NM_152718	NP_689931	Q96DN2	VWCE_HUMAN	Homo sapiens von Willebrand factor C and EGF domains (VWCE), mRNA.	812						extracellular region	calcium ion binding			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						TGTAGGTAAAGTCTGTGTTTT	0.582000														20			13		0	0	1	0	0
WDFY1	57590	broad.mit.edu	37	2	224763764	224763764	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:224763764G>A	uc002vnq.3	-	5	560	c.509C>T	c.(508-510)gCt>gTt	p.A170V		NM_020830	NP_065881	Q8IWB7	WDFY1_HUMAN	Homo sapiens WD repeat and FYVE domain containing 1 (WDFY1), mRNA.	170						cytosol|early endosome|nucleus	1-phosphatidylinositol binding|zinc ion binding	p.Y169H(1)		NS(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)	18		all_lung(227;0.00682)|Lung NSC(271;0.00859)|Renal(207;0.0112)|all_hematologic(139;0.189)		Epithelial(121;5.34e-10)|all cancers(144;1.67e-07)|Lung(261;0.00807)|LUSC - Lung squamous cell carcinoma(224;0.00843)		ACCAACGAAAGCATACTGAGT	0.433000														55			8		0	0	1	0	0
PDE7B	27115	broad.mit.edu	37	6	136495026	136495026	+	Splice_Site	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:136495026C>T	uc003qgp.3	+	9	1106	c.803_splice	c.e9+1	p.T268_splice	AJ606316_uc003qgq.1_Intron|PDE7B_uc003qgr.3_Splice_Site_p.T320_splice	NM_018945	NP_061818	Q9NP56	PDE7B_HUMAN	Homo sapiens phosphodiesterase 7B (PDE7B), mRNA.	268	Catalytic (By similarity).				signal transduction|synaptic transmission	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	p.T268I(1)		breast(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Colorectal(23;0.24)			OV - Ovarian serous cystadenocarcinoma(155;0.0136)|GBM - Glioblastoma multiforme(68;0.0147)	Dyphylline(DB00651)|Ketotifen(DB00920)	AAGGAAATGACGTAAGTGCTG	0.458000														36			22		0	0	1	0	0
GTPBP6	8225	broad.mit.edu	37	X	224523	224523	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:224523C>T	uc004cpe.1	-	3	464	c.463G>A	c.(463-465)Gtc>Atc	p.V155I		NM_012227	NP_036359	O43824	GTPB6_HUMAN	Homo sapiens GTP binding protein 6 (putative) (GTPBP6), mRNA.	384						intracellular	GTP binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(3)	7		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				GGGTGGCTGACGTCCCTCACG	0.667000														10			7		0	0	1	0	0
FAM59A	64762	broad.mit.edu	37	18	29867539	29867539	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:29867539G>A	uc002kxl.3	-	3	1077	c.1021C>T	c.(1021-1023)Cgg>Tgg	p.R341W	FAM59A_uc002kxk.2_Missense_Mutation_p.R341W	NM_001242409	NP_001229338	Q9H706	FA59A_HUMAN	Homo sapiens family with sequence similarity 59, member A (FAM59A), transcript variant 1, mRNA.	341										endometrium(9)|kidney(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	36						CGGACAGCCCGTGAATACTCA	0.552000														38			25		0	0	1	0	0
HLTF	6596	broad.mit.edu	37	3	148756915	148756915	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:148756915G>A	uc003ewq.1	-	22	2935	c.2717C>T	c.(2716-2718)aCt>aTt	p.T906I	HLTF_uc003ewr.1_Missense_Mutation_p.T906I|HLTF_uc003ews.1_Missense_Mutation_p.T905I|HLTF_uc010hve.1_Missense_Mutation_p.T905I	NM_139048	NP_620636	Q14527	HLTF_HUMAN	Homo sapiens helicase-like transcription factor (HLTF), transcript variant 2, mRNA.	906	Helicase C-terminal.				chromatin modification|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			AAGCATTATAGTTGGAGATCC	0.393000														42			16		0	0	1	0	0
ISYNA1	51477	broad.mit.edu	37	19	18546085	18546085	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:18546085T>G	uc002njd.2	-	9	1681	c.1463A>C	c.(1462-1464)aAc>aCc	p.N488T	ISYNA1_uc002nja.2_Missense_Mutation_p.N360T|ISYNA1_uc002njb.2_Missense_Mutation_p.N406T|ISYNA1_uc002njc.2_Missense_Mutation_p.N338T|ISYNA1_uc010xqh.2_Missense_Mutation_p.N286T|ISYNA1_uc002nje.2_Missense_Mutation_p.N434T	NM_016368	NP_001164410	Q9NPH2	INO1_HUMAN	Homo sapiens inositol-3-phosphate synthase 1 (ISYNA1), transcript variant 1, mRNA.	488					inositol biosynthetic process|phospholipid biosynthetic process	cytoplasm	binding|inositol-3-phosphate synthase activity			breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	12						CCTGAGGATGTTCTCGATGCA	0.667000														52			6		0	0	1	0	0
RASD1	51655	broad.mit.edu	37	17	17398697	17398697	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:17398697C>T	uc002gri.3	-	1	802	c.588G>A	c.(586-588)aaG>aaA	p.K196K	RASD1_uc021trg.1_3'UTR	NM_016084	NP_057168	Q9Y272	RASD1_HUMAN	Homo sapiens RAS, dexamethasone-induced 1 (RASD1), transcript variant 1, mRNA.	196					G-protein coupled receptor protein signaling pathway|small GTPase mediated signal transduction	nucleus|perinuclear region of cytoplasm|plasma membrane	GTP binding|GTPase activity			endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	4						CGCTGGGCAGCTTGGCCATGG	0.642000														4			3		0	0	1	0	0
FMO3	2328	broad.mit.edu	37	1	171086350	171086350	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:171086350A>C	uc001ghi.3	+	8	1478	c.1367A>C	c.(1366-1368)aAa>aCa	p.K456T	FMO3_uc001ghh.3_Missense_Mutation_p.K456T|FMO3_uc010pmb.2_Missense_Mutation_p.K436T|FMO3_uc010pmc.2_Missense_Mutation_p.K393T	NM_001002294	NP_008825	P31513	FMO3_HUMAN	Homo sapiens flavin containing monooxygenase 3 (FMO3), transcript variant 2, mRNA.	456					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)					ACAGATCCCAAATTGGCCATG	0.502000														55			5		0	0	1	0	0
CXorf48	54967	broad.mit.edu	37	X	134305083	134305083	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:134305083G>T	uc004eyk.1	-	0	669	c.13C>A	c.(13-15)Ctg>Atg	p.L5M	CXorf48_uc004eyl.1_Missense_Mutation_p.L5M	NM_001031705	NP_001026875	Q8WUE5	CX048_HUMAN	Homo sapiens chromosome X open reading frame 48 (CXorf48), transcript variant 1, mRNA.	5										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	5	Acute lymphoblastic leukemia(192;0.000127)					GCAAGTCTCAGAAGCCTGAGC	0.632000														34			28		1.2476e-16	1.58296e-16	1	1	0
PNMA5	114824	broad.mit.edu	37	X	152159756	152159756	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:152159756G>A	uc022chn.1	-	0	387	c.387C>T	c.(385-387)ctC>ctT	p.L129L	PNMA5_uc010ntx.3_Silent_p.L129L|PNMA5_uc010ntw.3_Silent_p.L129L|PNMA5_uc004fgy.4_Silent_p.L129L|PNMA5_uc022chm.1_Silent_p.L129L	NM_052926	NP_443158	Q96PV4	PNMA5_HUMAN	Homo sapiens paraneoplastic antigen like 5 (PNMA5), transcript variant 3, mRNA.	129					apoptosis			p.S128I(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					tctcggcagggaggctgcaac	0.502000														247			17		0	0	1	0	0
MLST8	64223	broad.mit.edu	37	16	2258454	2258454	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:2258454C>T	uc002coy.3	+	7	1093	c.702C>T	c.(700-702)ctC>ctT	p.L234L	MLST8_uc002cpc.3_Silent_p.L234L|MLST8_uc010uvx.2_Silent_p.L168L|MLST8_uc002cpd.3_Silent_p.L168L|MLST8_uc002cpb.3_Silent_p.L233L|MLST8_uc002coz.3_Silent_p.L234L|MLST8_uc002cpe.3_Silent_p.L234L|MLST8_uc002cpf.3_Silent_p.L234L|MLST8_uc002cph.3_Non-coding_Transcript	NM_022372	NP_071767	Q9BVC4	LST8_HUMAN	Homo sapiens MTOR associated protein, LST8 homolog (S. cerevisiae) (MLST8), transcript variant 1, mRNA.	234					T cell costimulation|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade	cytosol	protein binding			large_intestine(3)|lung(2)|skin(1)	6						CCACTAGGCTCCTCGCCACCT	0.672000														37			21		0	0	1	0	0
KIF16B	55614	broad.mit.edu	37	20	16385459	16385459	+	Splice_Site	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:16385459C>T	uc002wpg.2	-	17	1943	c.1784_splice	c.e17+1	p.G595_splice	KIF16B_uc010gch.2_Splice_Site_p.G595_splice|KIF16B_uc010gci.2_Splice_Site_p.G595_splice|KIF16B_uc010gcj.2_Splice_Site_p.G595_splice	NM_024704	NP_078980	Q96L93	KI16B_HUMAN	Homo sapiens kinesin family member 16B (KIF16B), transcript variant 2, mRNA.	595					Golgi to endosome transport|cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						TTCACTCACCCGGGGTTATAC	0.473000														25			4		0	0	1	0	0
RIBC2	26150	broad.mit.edu	37	22	45826798	45826798	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:45826798C>T	uc011aqs.2	+	6	1113	c.904C>T	c.(904-906)Cgc>Tgc	p.R302C		NM_015653	NP_056468	Q9H4K1	RIBC2_HUMAN	Homo sapiens RIB43A domain with coiled-coils 2 (RIBC2), mRNA.	235										NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|skin(2)|urinary_tract(1)	10		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		GGAAGAAAAGCGCCAGCGAGA	0.652000														5			6		0	0	1	0	0
PCK1	5105	broad.mit.edu	37	20	56140474	56140474	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:56140474G>A	uc002xyn.4	+	9	1646	c.1483G>A	c.(1483-1485)Gcc>Acc	p.A495T	PCK1_uc010zzm.2_Missense_Mutation_p.A178T	NM_002591	NP_002582	P35558	PCKGC_HUMAN	Homo sapiens phosphoenolpyruvate carboxykinase 1 (soluble) (PCK1), mRNA.	495					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	GTP binding|carboxylic acid binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			CAAATACCTGGCCCACTGGCT	0.512000														29			29		0	0	1	0	0
CYP11B1	1584	broad.mit.edu	37	8	143955889	143955889	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:143955889A>G	uc010mey.3	-	10	1632	c.1625T>C	c.(1624-1626)cTc>cCc	p.L542P	CYP11B1_uc010mex.3_Missense_Mutation_p.L170P|CYP11B1_uc003yxh.3_Missense_Mutation_p.L121P|CYP11B1_uc003yxi.3_Missense_Mutation_p.L471P|CYP11B1_uc003yxj.3_Missense_Mutation_p.L405P	NM_000497	NP_000488	P15538	C11B1_HUMAN	Homo sapiens cytochrome P450, family 11, subfamily B, polypeptide 1 (CYP11B1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	471					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	CTCCACCTGGAGGTGTTTCAG	0.532000									Familial Hyperaldosteronism type I					50			7		0	0	1	0	0
KCNS3	3790	broad.mit.edu	37	2	18113005	18113005	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:18113005G>A	uc021veh.1	+	0	730	c.730G>A	c.(730-732)Gct>Act	p.A244T	KCNS3_uc002rcv.3_Missense_Mutation_p.A244T|KCNS3_uc002rcw.3_Missense_Mutation_p.A244T	NM_002252	NP_002243	Q9BQ31	KCNS3_HUMAN	Homo sapiens potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3 (KCNS3), mRNA.	244					energy reserve metabolic process|regulation of insulin secretion	Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GCTGGCTGCCGCTCCTTGTCA	0.522000														60			33		0	0	1	0	0
ARAP3	64411	broad.mit.edu	37	5	141051471	141051471	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:141051471C>A	uc003llm.3	-	10	1740	c.1662G>T	c.(1660-1662)gaG>gaT	p.E554D	ARAP3_uc011dbe.2_Missense_Mutation_p.E216D|ARAP3_uc003lln.3_Missense_Mutation_p.E476D	NM_022481	NP_071926	Q8WWN8	ARAP3_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 (ARAP3), mRNA.	554	Arf-GAP.				cytoskeleton organization|negative regulation of Rho protein signal transduction|negative regulation of cell migration|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|Rho GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						CCTGTACTATCTCATTACTCC	0.602000														65			7		0.27861	0.27975	1	1	0
SYNM	23336	broad.mit.edu	37	15	99671904	99671904	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:99671904G>T	uc002bup.3	+	4	3456	c.3336G>T	c.(3334-3336)caG>caT	p.Q1112H	SYNM_uc002buo.3_Missense_Mutation_p.Q1112H|SYNM_uc002buq.3_Intron	NM_145728	NP_663780	O15061	SYNEM_HUMAN	Homo sapiens synemin, intermediate filament protein (SYNM), transcript variant A, mRNA.	1113	Tail.				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						GCTTTGCCCAGTCACAGGTGC	0.622000														9			3		0.004672	0.00486265	1	1	0
ANO5	203859	broad.mit.edu	37	11	22281285	22281285	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:22281285T>G	uc001mqi.2	+	14	1945	c.1628T>G	c.(1627-1629)aTg>aGg	p.M543R	ANO5_uc001mqj.2_Missense_Mutation_p.M542R	NM_213599	NP_998764	Q75V66	ANO5_HUMAN	Homo sapiens anoctamin 5 (ANO5), transcript variant 1, mRNA.	543						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ATCACAAAAATGGGTAAGCTG	0.363000														28			7		0	0	1	0	0
TRPM5	29850	broad.mit.edu	37	11	2427272	2427272	+	Missense_Mutation	SNP	G	A	A	rs142372288	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:2427272G>A	uc010qxl.2	-	21	3334	c.3325C>T	c.(3325-3327)Cgc>Tgc	p.R1109C	TRPM5_uc001lwm.4_Missense_Mutation_p.R1101C|TRPM5_uc009ydn.3_Missense_Mutation_p.R1103C	NM_014555	NP_055370	Q9NZQ8	TRPM5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 5 (TRPM5), mRNA.	1101						integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		CACTTGATGCGCTTTTCTTGC	0.637000														19			7		0	0	1	0	0
ZNFX1	57169	broad.mit.edu	37	20	47866162	47866162	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:47866162C>A	uc002xui.3	-	13	3646	c.3399G>T	c.(3397-3399)gaG>gaT	p.E1133D		NM_021035	NP_066363	Q9P2E3	ZNFX1_HUMAN	Homo sapiens zinc finger, NFX1-type containing 1 (ZNFX1), mRNA.	1133							metal ion binding			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CAAAGTGAGCCTCATGCTGGT	0.502000														97			7		1.12685e-05	1.25391e-05	1	1	0
HDAC5	10014	broad.mit.edu	37	17	42168852	42168852	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:42168852C>T	uc002iff.1	-	10	1508	c.1176G>A	c.(1174-1176)ccG>ccA	p.P392P	HDAC5_uc002ifd.1_Silent_p.P391P|HDAC5_uc002ife.1_Silent_p.P391P|HDAC5_uc010czp.1_Silent_p.P391P|HDAC5_uc002ifh.2_Silent_p.P391P	NM_001015053	NP_001015053	Q9UQL6	HDAC5_HUMAN	Homo sapiens histone deacetylase 5 (HDAC5), transcript variant 3, mRNA.	391					B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity (H3-K16 specific)|protein kinase C binding|repressing transcription factor binding			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.118)		TCGACAGCTTCGGGGAGGCCT	0.617000														18			4		0	0	1	0	0
TPP1	1200	broad.mit.edu	37	11	6640146	6640146	+	Splice_Site	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6640146C>T	uc001mel.1	-	3	151	c.90_splice	c.e3-1	p.T30_splice	TPP1_uc001mek.1_Splice_Site|TPP1_uc010rar.1_Splice_Site_p.T30_splice	NM_000391	NP_000382	O14773	TPP1_HUMAN	Homo sapiens tripeptidyl peptidase I (TPP1), mRNA.	30					bone resorption|cell death|lipid metabolic process|lysosome organization|nervous system development|neuromuscular process controlling balance|peptide catabolic process|protein catabolic process|proteolysis	lysosome|melanosome|soluble fraction	metal ion binding|peptide binding|protein binding|serine-type endopeptidase activity|tripeptidyl-peptidase activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;3.45e-09)|BRCA - Breast invasive adenocarcinoma(625;0.131)		CTGGGGGCAGCCTGTAGGGTC	0.577000														78			11		0	0	1	0	0
CFHR5	81494	broad.mit.edu	37	1	196952198	196952198	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:196952198C>T	uc001gts.4	+	1	370	c.242C>T	c.(241-243)cCg>cTg	p.P81L		NM_030787	NP_110414	Q9BXR6	FHR5_HUMAN	Homo sapiens complement factor H-related 5 (CFHR5), mRNA.	81	Sushi 1.				complement activation, alternative pathway	extracellular region		p.P81P(1)		NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						TCACCAACACCGAAGTGTCTC	0.403000														66			6		0	0	1	0	0
PLXNA1	5361	broad.mit.edu	37	3	126739187	126739187	+	Splice_Site	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:126739187G>T	uc003ejg.3	+	20	4038	c.4038_splice	c.e20+1	p.E1346_splice		NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	Homo sapiens plexin A1 (PLXNA1), mRNA.	1346					axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		AGGAGATGGAGGTAGGACCAC	0.602000														24			6		5.9392e-07	6.7814e-07	1	1	0
UNC13C	440279	broad.mit.edu	37	15	54305610	54305610	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:54305610G>T	uc021smr.1	+	0	510	c.510G>T	c.(508-510)gaG>gaT	p.E170D	UNC13C_uc021sms.1_Missense_Mutation_p.E170D	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	170					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CTGACGGGGAGCGTACTCTAC	0.473000														81			16		1.45105e-14	1.81895e-14	1	1	0
ZBTB45	84878	broad.mit.edu	37	19	59028593	59028593	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:59028593G>A	uc002qtd.3	-	1	740	c.448C>T	c.(448-450)Cgt>Tgt	p.R150C	ZBTB45_uc002qtf.3_Missense_Mutation_p.R150C	NM_032792	NP_116181	Q96K62	ZBT45_HUMAN	Homo sapiens zinc finger and BTB domain containing 45 (ZBTB45), mRNA.	150	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|lung(5)|urinary_tract(1)	11		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18)		AGGCGGTGACGCAGCTGCGCA	0.741000											OREG0025700	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		12			8		0	0	1	0	0
B4GALNT3	283358	broad.mit.edu	37	12	667216	667216	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:667216C>T	uc001qii.1	+	16	2569	c.2569C>T	c.(2569-2571)Cgc>Tgc	p.R857C	B4GALNT3_uc001qik.1_Missense_Mutation_p.R406C	NM_173593	NP_775864	Q6L9W6	B4GN3_HUMAN	Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 3 (B4GALNT3), mRNA.	857						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			AAACTTTGAACGCTCAGCTGG	0.557000														36			12		0	0	1	0	0
AANAT	15	broad.mit.edu	37	17	74465918	74465918	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:74465918C>A	uc021udg.1	+	6	1632	c.625C>A	c.(625-627)Ctg>Atg	p.L209M	AANAT_uc002jro.3_Missense_Mutation_p.L164M|AANAT_uc010wte.2_Non-coding_Transcript	NM_001166579	NP_001079	Q16613	SNAT_HUMAN	Homo sapiens aralkylamine N-acetyltransferase (AANAT), transcript variant 1, mRNA.	164					circadian rhythm|melatonin biosynthetic process	cytosol	aralkylamine N-acetyltransferase activity			lung(1)	1						CGAGGACGCGCTGGTACCCTT	0.711000														4			6		8.12818e-05	8.84769e-05	1	1	0
WDR33	55339	broad.mit.edu	37	2	128480179	128480179	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:128480179C>T	uc002tpg.2	-	13	1703	c.1504G>A	c.(1504-1506)Gct>Act	p.A502T		NM_018383	NP_060853	Q9C0J8	WDR33_HUMAN	Homo sapiens WD repeat domain 33 (WDR33), transcript variant 1, mRNA.	502					postreplication repair|spermatogenesis	collagen|nucleus	protein binding			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		TGGAACTGAGCAGGAATGGGT	0.418000														131			8		0	0	1	0	0
MPL	4352	broad.mit.edu	37	1	43804304	43804304	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:43804304C>T	uc001ciw.3	+	2	349	c.304C>T	c.(304-306)Cgt>Tgt	p.R102C	MPL_uc001civ.3_Missense_Mutation_p.R102C|MPL_uc009vwr.3_Missense_Mutation_p.R95C	NM_005373	NP_005364	P40238	TPOR_HUMAN	Homo sapiens myeloproliferative leukemia virus oncogene (MPL), mRNA.	102					cell proliferation|platelet activation	integral to plasma membrane	cytokine receptor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(551)|large_intestine(3)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	567	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GGAGGAAGTGCGTCTCTTCTT	0.562000			Mis		MPD	MPD	congenital amegakaryocytic thrombocytopenia							41			17		0	0	1	0	0
ZNF417	147687	broad.mit.edu	37	19	58420783	58420783	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58420783C>T	uc002qqq.3	-	2	1062	c.863G>A	c.(862-864)cGa>cAa	p.R288Q	ZNF417_uc010yhm.2_Missense_Mutation_p.R245Q|ZNF417_uc002qqr.3_Missense_Mutation_p.R287Q	NM_152475	NP_689688	Q8TAU3	ZN417_HUMAN	Homo sapiens zinc finger protein 417 (ZNF417), mRNA.	288					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|stomach(3)|upper_aerodigestive_tract(1)	18		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0151)		AGTGTGGACTCGCTGATGTTG	0.458000														126			57		0	0	1	0	0
LRRK2	120892	broad.mit.edu	37	12	40692959	40692959	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:40692959G>T	uc001rmg.4	+	24	3517	c.3396G>T	c.(3394-3396)aaG>aaT	p.K1132N	LRRK2_uc001rmh.1_Missense_Mutation_p.K754N|LRRK2_uc009zjw.3_5'UTR	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	Homo sapiens leucine-rich repeat kinase 2 (LRRK2), mRNA.	1132					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				AGGAACTGAAGATTTTAAACC	0.353000														70			54		6.60958e-23	8.59625e-23	1	1	0
EXOC8	149371	broad.mit.edu	37	1	231472501	231472501	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:231472501C>A	uc001huq.3	-	0	1078	c.991G>T	c.(991-993)Gac>Tac	p.D331Y		NM_175876	NP_787072	Q8IYI6	EXOC8_HUMAN	Homo sapiens exocyst complex component 8 (EXOC8), mRNA.	331					exocytosis|protein transport	growth cone|nucleus	protein binding			cervix(2)|endometrium(1)|large_intestine(2)|liver(1)|lung(5)|prostate(1)|skin(1)|stomach(1)	14	Breast(184;0.0871)	all_cancers(173;0.151)|Prostate(94;0.183)				ATGGAGAGGTCCACCTTCTCT	0.522000														73			36		8.16904e-11	9.91136e-11	1	1	0
PYHIN1	149628	broad.mit.edu	37	1	158943460	158943460	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:158943460A>G	uc001ftb.3	+	7	1633	c.1383A>G	c.(1381-1383)gcA>gcG	p.A461A	PYHIN1_uc001ftc.3_Silent_p.A452A|PYHIN1_uc001ftd.3_Intron|PYHIN1_uc001fte.3_Intron	NM_152501	NP_689714	Q6K0P9	IFIX_HUMAN	Homo sapiens pyrin and HIN domain family, member 1 (PYHIN1), transcript variant 1, mRNA.	461					cell cycle	nuclear speck		p.A461S(1)		breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					ACCCAGGAGCACAGTCATCGC	0.428000														74			7		0	0	1	0	0
PCNXL2	80003	broad.mit.edu	37	1	233134179	233134179	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:233134179C>T	uc001hvl.2	-	31	5844	c.5609G>A	c.(5608-5610)cGg>cAg	p.R1870Q	PCNXL2_uc001hvk.1_Missense_Mutation_p.R522Q|PCNXL2_uc001hvm.1_Non-coding_Transcript	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA.	1870						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				GCAATCCTTCCGCATCCTGTG	0.582000														25			18		0	0	1	0	0
TLN2	83660	broad.mit.edu	37	15	63017291	63017291	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:63017291T>C	uc002alb.4	+	23	3243	c.3243T>C	c.(3241-3243)ctT>ctC	p.L1081L		NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	Homo sapiens talin 2 (TLN2), mRNA.	1081	Ala-rich.				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						TGAAGCCACTTCCAGGGGAAA	0.493000														22			14		0	0	1	0	0
OTOA	146183	broad.mit.edu	37	16	21742191	21742191	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:21742191G>T	uc002djh.3	+	19	2242	c.2241G>T	c.(2239-2241)aaG>aaT	p.K747N	LOC23117_uc021tel.1_Intron|OTOA_uc010vbj.2_Missense_Mutation_p.K668N|OTOA_uc002dji.3_Missense_Mutation_p.K423N|OTOA_uc010vbk.2_Missense_Mutation_p.K395N	NM_144672	NP_653273	Q7RTW8	OTOAN_HUMAN	Homo sapiens otoancorin (OTOA), transcript variant 1, mRNA.	761					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix		p.T746M(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		AGACCACGAAGGACTTGGGAC	0.443000														3			14		4.14922e-12	5.1026e-12	1	1	0
IGSF9	57549	broad.mit.edu	37	1	159900180	159900180	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:159900180C>T	uc001fur.2	-	14	2061	c.1863G>A	c.(1861-1863)ccG>ccA	p.P621P	IGSF9_uc001fuq.2_Silent_p.P605P|IGSF9_uc001fup.2_5'UTR	NM_001135050	NP_001128522	Q9P2J2	TUTLA_HUMAN	Homo sapiens immunoglobulin superfamily, member 9 (IGSF9), transcript variant 1, mRNA.	621						cell junction|integral to membrane|synapse				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			ACAGGGGAGGCGGTATCTCTG	0.662000														73			23		0	0	1	0	0
NFIX	4784	broad.mit.edu	37	19	13184823	13184823	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:13184823C>A	uc010xmx.2	+	4	878	c.825C>A	c.(823-825)acC>acA	p.T275T	NFIX_uc002mwd.3_Silent_p.T267T|NFIX_uc002mwe.3_Silent_p.T259T|NFIX_uc002mwf.3_Silent_p.T270T|NFIX_uc002mwg.2_Silent_p.T266T			Q14938	NFIX_HUMAN	Homo sapiens nuclear factor I/X (CCAAT-binding transcription factor) (NFIX), mRNA.	267					DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(19;8.2e-22)			GGTCCATCACCTCCCCTCCTT	0.622000														51			14		1.49906e-05	1.66078e-05	1	1	0
SLC44A3	126969	broad.mit.edu	37	1	95357892	95357892	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:95357892G>A	uc001dqv.4	+	13	1783	c.1676G>A	c.(1675-1677)cGg>cAg	p.R559Q	SLC44A3_uc001dqx.4_Missense_Mutation_p.R558Q|SLC44A3_uc010otq.2_Missense_Mutation_p.R491Q|SLC44A3_uc010otr.2_Missense_Mutation_p.R523Q|SLC44A3_uc001dqw.4_Missense_Mutation_p.R511Q|SLC44A3_uc010ots.2_Missense_Mutation_p.R479Q|SLC44A3_uc009wds.3_Missense_Mutation_p.R462Q|SLC44A3_uc010ott.2_Missense_Mutation_p.R478Q	NM_001114106	NP_689582	Q8N4M1	CTL3_HUMAN	Homo sapiens solute carrier family 44, member 3 (SLC44A3), transcript variant 1, mRNA.	559						integral to membrane|plasma membrane	choline transmembrane transporter activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|prostate(2)|stomach(1)|urinary_tract(1)	23		all_lung(203;0.000712)|Lung NSC(277;0.00316)		all cancers(265;0.039)|Epithelial(280;0.124)	Choline(DB00122)	AACTACAATCGGGCATTCCAG	0.408000														88			126		0	0	1	0	0
ATP9A	10079	broad.mit.edu	37	20	50221543	50221543	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:50221543G>A	uc002xwg.1	-	26	2820	c.2820C>T	c.(2818-2820)taC>taT	p.Y940Y	ATP9A_uc010gih.1_Silent_p.Y804Y|ATP9A_uc002xwf.1_Silent_p.Y112Y	NM_006045	NP_006036	O75110	ATP9A_HUMAN	Homo sapiens ATPase, class II, type 9A (ATP9A), mRNA.	940					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						GCAGCGCCCCGTACATGATGG	0.612000														10			10		0	0	1	0	0
PLEKHA1	59338	broad.mit.edu	37	10	124189225	124189225	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:124189225G>A	uc001lge.2	+	11	1235	c.986G>A	c.(985-987)cGc>cAc	p.R329H	PLEKHA1_uc001lgf.2_3'UTR|PLEKHA1_uc001lgg.2_Missense_Mutation_p.R329H|PLEKHA1_uc021qae.1_5'Flank	NM_001001974	NP_067635	Q9HB21	PKHA1_HUMAN	Homo sapiens pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1 (PLEKHA1), transcript variant 2, mRNA.	329					B cell receptor signaling pathway|cellular response to hydrogen peroxide|establishment of protein localization|negative regulation of protein kinase B signaling cascade|phosphatidylinositol 3-kinase cascade|ruffle organization	cytoplasm|nucleus|ruffle membrane	PDZ domain binding|phosphatidylinositol-3,4-bisphosphate binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				ACAGCCTCTCGCAGCAACTCT	0.537000														20			19		0	0	1	0	0
ABCF3	55324	broad.mit.edu	37	3	183905481	183905481	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:183905481C>T	uc003fmz.2	+	4	511	c.378C>T	c.(376-378)gcC>gcT	p.A126A	ABCF3_uc003fna.2_Silent_p.A120A|ABCF3_uc003fnb.2_5'Flank	NM_018358	NP_060828	Q9NUQ8	ABCF3_HUMAN	Homo sapiens ATP-binding cassette, sub-family F (GCN20), member 3 (ABCF3), mRNA.	126							ATP binding|ATPase activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(20)|ovary(3)|prostate(5)|upper_aerodigestive_tract(1)	39	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TAGAGAAGGCCGAGGCTCGAC	0.527000														20			16		0	0	1	0	0
BIRC6	57448	broad.mit.edu	37	2	32688447	32688447	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:32688447C>T	uc010ezu.3	+	23	5073	c.4939C>T	c.(4939-4941)Cag>Tag	p.Q1647*		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	Homo sapiens baculoviral IAP repeat containing 6 (BIRC6), mRNA.	1647					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					GCTTCAGCAACAGGTTGGAGA	0.423000														13			9		0	0	1	0	0
ZNF317	57693	broad.mit.edu	37	19	9271665	9271665	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9271665C>T	uc002mku.3	+	6	1649	c.1344C>T	c.(1342-1344)tgC>tgT	p.C448C	ZNF317_uc002mkv.3_Silent_p.C307C|ZNF317_uc002mkw.3_Silent_p.C416C|ZNF317_uc002mkx.3_Silent_p.C363C|ZNF317_uc002mky.3_Silent_p.C331C	NM_020933	NP_065984	Q96PQ6	ZN317_HUMAN	Homo sapiens zinc finger protein 317 (ZNF317), transcript variant 1, mRNA.	448					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	27						CATACGGGTGCGATCTCTGCG	0.547000														19			13		0	0	1	0	0
MAPK7	5598	broad.mit.edu	37	17	19285153	19285153	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:19285153C>T	uc002gvn.3	+	4	1923	c.1537C>T	c.(1537-1539)Cgc>Tgc	p.R513C	MAPK7_uc002gvo.3_Missense_Mutation_p.R374C|MAPK7_uc002gvq.3_Missense_Mutation_p.R513C|MAPK7_uc002gvp.3_Missense_Mutation_p.R513C	NM_139033	NP_620601	Q13164	MK07_HUMAN	Homo sapiens mitogen-activated protein kinase 7 (MAPK7), transcript variant 1, mRNA.	513	Arg-rich.|May not be required for kinase activity; required to stimulate MEF2C activity (By similarity).|Nuclear localization signal (By similarity).|Pro-rich.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|cell cycle|cell differentiation|innate immune response|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|protein binding			autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	30	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					AGCCcaggagcgccagcggga	0.692000														2			4		0	0	1	0	0
TPO	7173	broad.mit.edu	37	2	1491744	1491744	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:1491744C>T	uc002qwr.3	+	9	1835	c.1749C>T	c.(1747-1749)ggC>ggT	p.G583G	TPO_uc010ewj.3_Intron|TPO_uc002qww.3_Silent_p.G583G|TPO_uc002qwx.3_Intron|TPO_uc002qwu.3_Intron|TPO_uc010yio.2_Silent_p.G410G|TPO_uc010yip.2_Silent_p.G583G|TPO_uc002qwy.1_Intron|TPO_uc002qwz.3_Intron	NM_001206744	NP_001193673	P07202	PERT_HUMAN	Homo sapiens thyroid peroxidase (TPO), transcript variant 6, mRNA.	583					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	TGCAGAGGGGCCGGGACCACG	0.592000														41			12		0	0	1	0	0
OTOF	9381	broad.mit.edu	37	2	26688593	26688593	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:26688593G>A	uc002rhk.3	-	37	4873	c.4746C>T	c.(4744-4746)aaC>aaT	p.N1582N	OTOF_uc010yla.2_Silent_p.N312N|OTOF_uc002rhh.3_Silent_p.N815N|OTOF_uc002rhi.3_Silent_p.N892N|OTOF_uc002rhj.3_Silent_p.N815N	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	Homo sapiens otoferlin (OTOF), transcript variant 1, mRNA.	1582					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGTAGAAGCGGTTCTCCAGGT	0.617000														34			16		0	0	1	0	0
GPATCH8	23131	broad.mit.edu	37	17	42477443	42477443	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:42477443G>A	uc002igw.2	-	7	2221	c.2002C>T	c.(2002-2004)Cga>Tga	p.R668*	GPATCH8_uc002igv.2_Nonsense_Mutation_p.R590*|GPATCH8_uc010wiz.2_Nonsense_Mutation_p.R590*	NM_001002909	NP_001002909	Q9UKJ3	GPTC8_HUMAN	Homo sapiens G patch domain containing 8 (GPATCH8), transcript variant 1, mRNA.	668	Lys-rich.					intracellular	nucleic acid binding|zinc ion binding			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		TTCCCAGATCGTTCTTTCTTG	0.498000														85			47		0	0	1	0	0
MFSD6L	162387	broad.mit.edu	37	17	8702189	8702189	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:8702189G>T	uc002glp.2	-	0	479	c.250C>A	c.(250-252)Ctg>Atg	p.L84M		NM_152599	NP_689812	Q8IWD5	MFS6L_HUMAN	Homo sapiens major facilitator superfamily domain containing 6-like (MFSD6L), mRNA.	84						integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|skin(4)	17						GAGCCGAGCAGGGAGCCGATC	0.602000														45			21		2.27525e-19	2.92791e-19	1	1	0
C17orf28	283987	broad.mit.edu	37	17	72958369	72958369	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:72958369C>T	uc002jmj.4	-	4	720	c.571G>A	c.(571-573)Gct>Act	p.A191T	C17orf28_uc010wrs.2_5'UTR|C17orf28_uc002jmk.2_Missense_Mutation_p.A190T	NM_030630	NP_085133	Q8IV36	CQ028_HUMAN	Homo sapiens chromosome 17 open reading frame 28 (C17orf28), mRNA.	191						integral to membrane|plasma membrane	protein binding			endometrium(5)|large_intestine(5)|lung(2)|prostate(1)|skin(3)|urinary_tract(1)	17	all_lung(278;0.151)|Lung NSC(278;0.185)					GGGGAGTGAGCGAAGCCCACA	0.657000														16			16		0	0	1	0	0
CAMKK2	10645	broad.mit.edu	37	12	121706459	121706459	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:121706459G>A	uc001tzv.3	-	4	1436	c.607C>T	c.(607-609)Cgg>Tgg	p.R203W	CAMKK2_uc001tzt.3_Missense_Mutation_p.R203W|CAMKK2_uc001tzu.3_Missense_Mutation_p.R203W|CAMKK2_uc001tzw.3_Missense_Mutation_p.R203W|CAMKK2_uc001tzx.3_Missense_Mutation_p.R203W|CAMKK2_uc001tzy.3_Missense_Mutation_p.R203W|CAMKK2_uc001uaa.1_Missense_Mutation_p.R203W|CAMKK2_uc001uab.3_Missense_Mutation_p.R203W|CAMKK2_uc001uac.3_Missense_Mutation_p.R203W	NM_006549	NP_006540	Q96RR4	KKCC2_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase kinase 2, beta (CAMKK2), transcript variant 1, mRNA.	203	Protein kinase.				MAPKKK cascade|calcium-mediated signaling|positive regulation of transcription, DNA-dependent|protein autophosphorylation|regulation of protein kinase activity	cytoplasm	ATP binding|calcium ion binding|calmodulin binding|calmodulin-dependent protein kinase activity|protein tyrosine kinase activity			endometrium(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	17	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CCGGCCTGCCGGATCAGCTTC	0.547000														129			6		0	0	1	0	0
CCDC157	550631	broad.mit.edu	37	22	30766567	30766567	+	Missense_Mutation	SNP	G	A	A	rs140264936	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:30766567G>A	uc011aku.2	+	4	1333	c.673G>A	c.(673-675)Gcc>Acc	p.A225T	CCDC157_uc011akv.2_Missense_Mutation_p.A225T	NM_001017437	NP_001017437	Q569K6	CC157_HUMAN	Homo sapiens coiled-coil domain containing 157 (CCDC157), mRNA.	225										central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(1)	15						TGACGCATGCGCCAGCGTCCA	0.612000														48			14		0	0	1	0	0
IL17B	27190	broad.mit.edu	37	5	148756437	148756437	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:148756437C>T	uc003lqo.3	-	1	223	c.173G>A	c.(172-174)cGc>cAc	p.R58H		NM_014443	NP_055258	Q9UHF5	IL17B_HUMAN	Homo sapiens interleukin 17B (IL17B), mRNA.	58					cell-cell signaling|immune response|inflammatory response	extracellular space	cytokine activity|signal transducer activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)|urinary_tract(1)	8			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCCTCCATGCGGGCATACGG	0.617000														45			43		0	0	1	0	0
PLEKHH1	57475	broad.mit.edu	37	14	68042713	68042713	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:68042713G>A	uc001xjl.1	+	15	2485	c.2343G>A	c.(2341-2343)aaG>aaA	p.K781K	PLEKHH1_uc010tsw.1_Silent_p.K349K|PLEKHH1_uc001xjn.1_Silent_p.K296K|PLEKHH1_uc010tsx.1_5'Flank	NM_020715	NP_065766	Q9ULM0	PKHH1_HUMAN	Homo sapiens pleckstrin homology domain containing, family H (with MyTH4 domain) member 1 (PLEKHH1), mRNA.	781	PH 2.					cytoskeleton	binding			endometrium(2)|kidney(4)|lung(12)|urinary_tract(1)	19				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)		TTGGCACCAAGCATGAAAAGG	0.547000														40			16		0	0	1	0	0
CTIF	9811	broad.mit.edu	37	18	46284702	46284702	+	Missense_Mutation	SNP	C	T	T	rs150546807		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:46284702C>T	uc002ldd.3	+	8	1356	c.997C>T	c.(997-999)Cgc>Tgc	p.R333C	CTIF_uc002ldc.3_Missense_Mutation_p.R333C|CTIF_uc002lde.4_5'Flank	NM_001142397	NP_001135869	O43310	CTIF_HUMAN	Homo sapiens CBP80/20-dependent translation initiation factor (CTIF), transcript variant 2, mRNA.	333					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational initiation	perinuclear region of cytoplasm	protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	31						TCTTCCCGAGCGCATCGGGGA	0.557000														217			26		0	0	1	0	0
RASA4	10156	broad.mit.edu	37	7	44073779	44073779	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:44073779C>A	uc011kbk.1	-	5	768	c.663G>T	c.(661-663)aaG>aaT	p.K221N	RASA4_uc003tji.2_Non-coding_Transcript|RASA4_uc010kxx.2_Non-coding_Transcript	NM_006989	NP_008920	O43374	RASL2_HUMAN	Homo sapiens RAS p21 protein activator 4 (RASA4), transcript variant 1, mRNA.	700					intracellular signal transduction|negative regulation of Ras protein signal transduction	cytosol|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|metal ion binding			lung(1)|prostate(1)|urinary_tract(1)	3						TCCCACCTGTCTTCTCTTTTT	0.622000														14			4		3.59834e-05	3.95114e-05	1	1	0
GCDH	2639	broad.mit.edu	37	19	13008660	13008660	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:13008660C>T	uc002mvq.3	+	10	1303	c.1226C>T	c.(1225-1227)gCc>gTc	p.A409V	GCDH_uc002mvp.3_Missense_Mutation_p.A409V|GCDH_uc010xmt.2_Missense_Mutation_p.A243V|GCDH_uc010xmu.2_Missense_Mutation_p.A365V	NM_000159	NP_000150	Q92947	GCDH_HUMAN	Homo sapiens glutaryl-CoA dehydrogenase (GCDH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	409					lysine catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|glutaryl-CoA dehydrogenase activity|protein binding			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)	19						AACCTGGAGGCCGTGAACACC	0.632000														27			12		0	0	1	0	0
SNX1	6642	broad.mit.edu	37	15	64424038	64424038	+	Missense_Mutation	SNP	T	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:64424038T>A	uc002amv.3	+	10	1298	c.1168T>A	c.(1168-1170)Ttc>Atc	p.F390I	SNX1_uc010bgv.3_Missense_Mutation_p.F104I|SNX1_uc010uio.2_Missense_Mutation_p.F390I|SNX1_uc002amx.3_Missense_Mutation_p.F325I|SNX1_uc010bgw.3_Missense_Mutation_p.F292I	NM_003099	NP_003090	Q13596	SNX1_HUMAN	Homo sapiens sorting nexin 1 (SNX1), transcript variant 1, mRNA.	390	BAR.				cell communication|early endosome to Golgi transport|endocytosis|intracellular protein transport	Golgi apparatus|early endosome membrane	phosphatidylinositol binding|protein binding|protein transporter activity			breast(1)|endometrium(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13						CAATGACTTCTTCCTCCTTGC	0.512000														52			31		0	0	1	0	0
PAPOLG	64895	broad.mit.edu	37	2	60995624	60995624	+	Missense_Mutation	SNP	T	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:60995624T>A	uc002sai.3	+	3	515	c.266T>A	c.(265-267)gTg>gAg	p.V89E	PAPOLG_uc002saj.3_5'UTR|PAPOLG_uc002sak.3_5'UTR	NM_022894	NP_075045	Q9BWT3	PAPOG_HUMAN	Homo sapiens poly(A) polymerase gamma (PAPOLG), mRNA.	89					RNA polyadenylation|mRNA processing|transcription, DNA-dependent	nucleus	ATP binding|RNA binding|metal ion binding|polynucleotide adenylyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	35	all_hematologic(2;0.0797)		LUSC - Lung squamous cell carcinoma(5;1.19e-07)|Lung(5;2.86e-06)|Epithelial(17;0.0768)			CCTTCTGTTGTGGCTACTGTT	0.378000														92			7		0	0	1	0	0
MICALCL	84953	broad.mit.edu	37	11	12316328	12316328	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:12316328C>A	uc001mkg.1	+	2	1641	c.1350C>A	c.(1348-1350)acC>acA	p.T450T		NM_032867	NP_116256	Q6ZW33	MICLK_HUMAN	Homo sapiens MICAL C-terminal like (MICALCL), mRNA.	450					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		TCAAAAGCACCTCCCTGCGCC	0.597000														42			12		3.07112e-06	3.45634e-06	1	1	0
SCN10A	6336	broad.mit.edu	37	3	38739556	38739556	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:38739556C>T	uc003ciq.3	-	26	5155	c.5155G>A	c.(5155-5157)Gca>Aca	p.A1719T		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	1719					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	AGAATCACTGCAATGTACATG	0.512000														49			23		0	0	1	0	0
ENO2	2026	broad.mit.edu	37	12	7027207	7027207	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:7027207G>A	uc001qru.1	+	6	770	c.548G>A	c.(547-549)cGa>cAa	p.R183Q	ENO2_uc009zfi.1_Missense_Mutation_p.R183Q|ENO2_uc010sfq.1_Missense_Mutation_p.R140Q|ENO2_uc001qrv.1_Missense_Mutation_p.R183Q	NM_001975	NP_001966	P09104	ENOG_HUMAN	Homo sapiens enolase 2 (gamma, neuronal) (ENO2), mRNA.	183					gluconeogenesis|glycolysis	phosphopyruvate hydratase complex|plasma membrane	magnesium ion binding|phosphopyruvate hydratase activity			endometrium(3)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						GATGCCATGCGACTAGGTGCA	0.537000														32			19		0	0	1	0	0
DOCK5	80005	broad.mit.edu	37	8	25224467	25224467	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:25224467C>T	uc003xeg.3	+	30	3342	c.3205C>T	c.(3205-3207)Cgc>Tgc	p.R1069C	DOCK5_uc010luf.1_Non-coding_Transcript|DOCK5_uc003xeh.1_Missense_Mutation_p.R783C|DOCK5_uc003xei.3_Missense_Mutation_p.R639C|DOCK5_uc003xej.3_Non-coding_Transcript	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN	Homo sapiens dedicator of cytokinesis 5 (DOCK5), mRNA.	1069						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		ACAAGCCAAGCGCAACAAAAT	0.383000														24			10		0	0	1	0	0
PRIC285	85441	broad.mit.edu	37	20	62202148	62202148	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:62202148G>A	uc002yfm.2	-	2	1244	c.352C>T	c.(352-354)Cgc>Tgc	p.R118C	PRIC285_uc002yfn.2_Missense_Mutation_p.R118C	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	Homo sapiens peroxisomal proliferator-activated receptor A interacting complex 285 (PRIC285), transcript variant 1, mRNA.	118					cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|RNA binding|helicase activity|ribonuclease activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(4)|cervix(3)|endometrium(6)|kidney(3)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(4)|urinary_tract(2)	47	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)			GCCTGCGTGCGCCGGACCCAC	0.697000														11			3		0	0	1	0	0
KIAA0226L	80183	broad.mit.edu	37	13	46937274	46937274	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:46937274C>T	uc010acl.3	-	5	1506	c.901G>A	c.(901-903)Gat>Aat	p.D301N	KIAA0226L_uc001vbf.4_Missense_Mutation_p.D234N|KIAA0226L_uc010tfz.2_Missense_Mutation_p.D144N|KIAA0226L_uc010acn.3_Missense_Mutation_p.D86N|KIAA0226L_uc010acm.3_Missense_Mutation_p.D166N|KIAA0226L_uc001vbe.4_Missense_Mutation_p.D301N|KIAA0226L_uc001vbh.4_Missense_Mutation_p.D301N|KIAA0226L_uc001vbi.4_Missense_Mutation_p.D144N|KIAA0226L_uc010aco.1_Missense_Mutation_p.D301N	NM_025113	NP_079389	Q9H714	CM018_HUMAN	Homo sapiens KIAA0226-like (KIAA0226L), mRNA.	301										NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1)	26						TCATCAACATCGCATTTGCAA	0.423000														17			7		0	0	1	0	0
CACNA2D2	9254	broad.mit.edu	37	3	50405102	50405102	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:50405102G>A	uc003daq.3	-	26	2327	c.2289C>T	c.(2287-2289)gaC>gaT	p.D763D	CACNA2D2_uc003dap.3_Silent_p.D756D	NM_001174051	NP_001167522	Q9NY47	CA2D2_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 2 (CACNA2D2), transcript variant 3, mRNA.	763					energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Gabapentin(DB00996)	TGATGCCACCGTCTGTGGCAG	0.642000														22			9		0	0	1	0	0
ZC3H12C	85463	broad.mit.edu	37	11	110023742	110023742	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:110023742C>T	uc010rwc.2	+	2	875	c.875C>T	c.(874-876)gCt>gTt	p.A292V	ZC3H12C_uc009yxw.3_Missense_Mutation_p.A291V|ZC3H12C_uc010rwd.2_Missense_Mutation_p.A292V|ZC3H12C_uc001pkr.4_Missense_Mutation_p.A260V|ZC3H12C_uc001pkq.2_Missense_Mutation_p.A260V	NM_033390	NP_203748	Q9C0D7	ZC12C_HUMAN	Homo sapiens zinc finger CCCH-type containing 12C (ZC3H12C), mRNA.	291							endonuclease activity|nucleic acid binding|zinc ion binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)		TTTGTTCCTGCTTGGAGGAAA	0.438000														14			5		0	0	1	0	0
IRF1	3659	broad.mit.edu	37	5	131823680	131823680	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:131823680G>A	uc003kxa.2	-	2	359	c.125C>T	c.(124-126)gCc>gTc	p.A42V	IRF1_uc003kxd.2_Intron|IRF1_uc003kxb.2_Missense_Mutation_p.A42V|IRF1_uc010jdt.2_Missense_Mutation_p.A42V	NM_002198	NP_002189	P10914	IRF1_HUMAN	Homo sapiens interferon regulatory factor 1 (IRF1), mRNA.	42					blood coagulation|cellular response to mechanical stimulus|interferon-gamma-mediated signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleoplasm				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|urinary_tract(1)	11		all_cancers(142;0.026)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	LUAD - Lung adenocarcinoma(142;0.247)		GCCATGCTTGGCAGCATGCTT	0.537000														27			4		0	0	1	0	0
OLFML2B	25903	broad.mit.edu	37	1	161967893	161967893	+	Missense_Mutation	SNP	G	A	A	rs140535952	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:161967893G>A	uc010pkq.2	-	5	1623	c.1199C>T	c.(1198-1200)tCg>tTg	p.S400L	OLFML2B_uc001gbu.3_Missense_Mutation_p.S399L	NM_015441	NP_056256	Q68BL8	OLM2B_HUMAN	Homo sapiens olfactomedin-like 2B (OLFML2B), mRNA.	399										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			TGGAGACACCGAGGTTGTTTG	0.627000														108			7		0	0	1	0	0
ST13	6767	broad.mit.edu	37	22	41223100	41223100	+	Splice_Site	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:41223100C>A	uc003aze.3	-	11	1124	c.981_splice	c.e11+1	p.Q327_splice	ST13_uc011aow.2_Splice_Site_p.Q317_splice	NM_003932	NP_003923	P50502	F10A1_HUMAN	Homo sapiens suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) (ST13), mRNA.	327	STI1.						protein binding, bridging			cervix(1)|large_intestine(1)|lung(3)|skin(1)	6						CAAGTCTTACCTGCATGGCTG	0.428000														50			7		8.12818e-05	8.84769e-05	1	1	0
SYT14L	401135	broad.mit.edu	37	4	68928585	68928585	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:68928585G>A	uc021xou.1	-	0	403	c.242C>T	c.(241-243)gCa>gTa	p.A81V	LOC550112_uc003hdl.4_Non-coding_Transcript|TMPRSS11F_uc003hdt.1_Intron|BC041902_uc011cak.2_Non-coding_Transcript|SYT14L_uc010ihn.3_Non-coding_Transcript					RecName: Full=Putative synaptotagmin-14-like protein; AltName: Full=Synaptotagmin XIV-derived protein; AltName: Full=Synaptotagmin XIV-like protein;											endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(2)	11						TGGTCTGTTTGCTGCCCAATT	0.433000														64			42		0	0	1	0	0
DAB2	1601	broad.mit.edu	37	5	39383090	39383090	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:39383090G>A	uc003jlx.3	-	9	1502	c.971C>T	c.(970-972)tCg>tTg	p.S324L	DAB2_uc003jlw.3_Missense_Mutation_p.S303L	NM_001343	NP_001334	P98082	DAB2_HUMAN	Homo sapiens disabled homolog 2, mitogen-responsive phosphoprotein (Drosophila) (DAB2), transcript variant 1, mRNA.	324					cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	clathrin coated vesicle membrane|coated pit	protein C-terminus binding	p.S324*(2)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			CGAGCTACTCGAATTCTCTTT	0.468000														64			30		0	0	1	0	0
LRRC48	83450	broad.mit.edu	37	17	17896109	17896109	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:17896109C>T	uc021trj.1	+	6	854	c.475C>T	c.(475-477)Cgg>Tgg	p.R159W	LRRC48_uc010vxe.2_Missense_Mutation_p.R159W|LRRC48_uc021tri.1_Missense_Mutation_p.R159W|LRRC48_uc021trk.1_Missense_Mutation_p.R159W	NM_001130090	NP_112584	Q9H069	LRC48_HUMAN	Homo sapiens leucine rich repeat containing 48 (LRRC48), transcript variant 1, mRNA.	159			R -> Q (in dbSNP:rs8072048).			cytoplasm				breast(1)|large_intestine(2)|lung(2)|pancreas(1)|urinary_tract(1)	7	all_neural(463;0.228)					CAAGTGCCTGCGGACGCTCAG	0.542000														18			6		0	0	1	0	0
UBAP2	55833	broad.mit.edu	37	9	33926987	33926987	+	Splice_Site	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:33926987C>T	uc003ztq.1	-	21	2576	c.2463_splice	c.e21+1	p.P821_splice	UBAP2_uc011loc.1_Splice_Site_p.P730_splice|UBAP2_uc011lod.1_Splice_Site_p.P554_splice|UBAP2_uc011loe.1_Splice_Site_p.P576_splice|UBAP2_uc011lof.1_Splice_Site_p.P746_splice|UBAP2_uc003ztn.1_Splice_Site_p.P60_splice|UBAP2_uc003zto.1_Splice_Site_p.P60_splice|UBAP2_uc003ztp.2_Splice_Site_p.P60_splice	NM_018449	NP_060919	Q5T6F2	UBAP2_HUMAN	Homo sapiens ubiquitin associated protein 2 (UBAP2), mRNA.	821										endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		ATACACTCACCGGGTAGGCAG	0.647000														28			5		0	0	1	0	0
HERC2	8924	broad.mit.edu	37	15	28483336	28483336	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:28483336A>G	uc001zbj.3	-	24	3882	c.3776T>C	c.(3775-3777)gTa>gCa	p.V1259A		NM_004667	NP_004658	O95714	HERC2_HUMAN	Homo sapiens hect domain and RLD 2 (HERC2), mRNA.	1259	Cytochrome b5 heme-binding.				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TTCCAAAGCTACCACTGGGTC	0.463000														35			23		0	0	1	0	0
KIF24	347240	broad.mit.edu	37	9	34256522	34256522	+	Missense_Mutation	SNP	G	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:34256522G>C	uc003zua.4	-	10	3203	c.3083C>G	c.(3082-3084)gCt>gGt	p.A1028G	KIF24_uc010mkb.3_Intron	NM_194313	NP_919289	Q5T7B8	KIF24_HUMAN	Homo sapiens kinesin family member 24 (KIF24), mRNA.	1028					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			TCCTGGGACAGCATGACCGTT	0.562000														94			6		0	0	1	0	0
PDE6C	5146	broad.mit.edu	37	10	95399908	95399908	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:95399908A>C	uc001kiu.4	+	11	1702	c.1564A>C	c.(1564-1566)Att>Ctt	p.I522L		NM_006204	NP_006195	P51160	PDE6C_HUMAN	Homo sapiens phosphodiesterase 6C, cGMP-specific, cone, alpha prime (PDE6C), mRNA.	522					visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)				GCACGGATTGATTAAATGTGG	0.408000														71			52		0	0	1	0	0
KDM2B	84678	broad.mit.edu	37	12	121882002	121882002	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:121882002C>T	uc001uat.3	-	15	2368	c.2264G>A	c.(2263-2265)cGg>cAg	p.R755Q	KDM2B_uc010szy.2_Missense_Mutation_p.R195Q|KDM2B_uc001uaq.3_Missense_Mutation_p.R195Q|KDM2B_uc001uar.3_Missense_Mutation_p.R346Q|KDM2B_uc001uas.3_Missense_Mutation_p.R724Q|KDM2B_uc021rfd.1_Missense_Mutation_p.R724Q|KDM2B_uc001uau.3_Intron|KDM2B_uc021rfe.1_Missense_Mutation_p.R755Q|KDM2B_uc001uao.3_Missense_Mutation_p.R3Q|KDM2B_uc010szx.2_Missense_Mutation_p.R3Q|KDM2B_uc001uap.3_Non-coding_Transcript	NM_032590	NP_115979	Q8NHM5	KDM2B_HUMAN	Homo sapiens lysine (K)-specific demethylase 2B (KDM2B), transcript variant 1, mRNA.	755					embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						CTTGTTGTCCCGGTTCATCTT	0.602000											OREG0022201	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		55			24		0	0	1	0	0
PFKFB1	5207	broad.mit.edu	37	X	54984796	54984796	+	Splice_Site	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:54984796C>A	uc004dty.1	-	6	531	c.460_splice	c.e6-1	p.V154_splice	PFKFB1_uc010nkd.1_Intron|PFKFB1_uc011mol.1_Splice_Site_p.V89_splice	NM_002625	NP_002616	P16118	F261_HUMAN	Homo sapiens 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 (PFKFB1), mRNA.	154	6-phosphofructo-2-kinase.				energy reserve metabolic process|fructose 2,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|intracellular protein kinase cascade	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 complex	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)	24						TGAAAAACACCTATAAAAGAA	0.408000														37			16		4.14922e-12	5.1026e-12	1	1	0
CTR9	9646	broad.mit.edu	37	11	10777339	10777339	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:10777339C>A	uc001mja.3	+	3	648	c.499C>A	c.(499-501)Ctt>Att	p.L167I		NM_014633	NP_055448	Q6PD62	CTR9_HUMAN	Homo sapiens Ctr9, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae) (CTR9), mRNA.	167					histone H2B ubiquitination|histone monoubiquitination	Cdc73/Paf1 complex|nuclear speck				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		TCCAGCCCTTCTTGGTAAGTG	0.398000														96			9		0.00829132	0.00860413	1	1	0
MDC1	9656	broad.mit.edu	37	6	30680174	30680174	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:30680174G>T	uc003nrg.4	-	4	1985	c.1545C>A	c.(1543-1545)gcC>gcA	p.A515A	MDC1_uc003nrf.4_Silent_p.A169A|MDC1_uc011dmp.1_Silent_p.A387A|MDC1_uc003nrh.1_Silent_p.A387A|MDC1_uc003nri.2_Silent_p.A515A	NM_014641	NP_055456	Q14676	MDC1_HUMAN	Homo sapiens mediator of DNA-damage checkpoint 1 (MDC1), mRNA.	515	Required for nuclear localization (NLS1).				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						CTGTGGTGGAGGCTTGGCTTC	0.512000								Other conserved DNA damage response genes						64			46		2.13384e-23	2.7809e-23	1	1	0
CLCA2	9635	broad.mit.edu	37	1	86900358	86900358	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:86900358C>T	uc001dlr.4	+	5	1064	c.902C>T	c.(901-903)aCa>aTa	p.T301I		NM_006536	NP_006527	Q9UQC9	CLCA2_HUMAN	Homo sapiens chloride channel accessory 2 (CLCA2), mRNA.	301					cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity			NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		CCTCCTCCCACATTCTCGCTT	0.478000														128			35		0	0	1	0	0
LRRN3	54674	broad.mit.edu	37	7	110763060	110763060	+	Missense_Mutation	SNP	A	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:110763060A>T	uc003vft.4	+	3	1278	c.232A>T	c.(232-234)Act>Tct	p.T78S	IMMP2L_uc003vfq.2_Intron|IMMP2L_uc010ljr.2_Intron|IMMP2L_uc003vfr.3_Intron|LRRN3_uc003vfu.4_Missense_Mutation_p.T78S|LRRN3_uc003vfs.4_Missense_Mutation_p.T78S|LRRN3_uc022akc.1_Missense_Mutation_p.T78S	NM_001099660	NP_060804	Q9H3W5	LRRN3_HUMAN	Homo sapiens leucine rich repeat neuronal 3 (LRRN3), transcript variant 1, mRNA.	78						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		TCTCCTACAGACTAACAATAT	0.353000														119			9		0	0	1	0	0
C3AR1	719	broad.mit.edu	37	12	8212652	8212652	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:8212652C>T	uc001qtv.1	-	1	222	c.130G>A	c.(130-132)Gtg>Atg	p.V44M	C3AR1_uc021quj.1_Missense_Mutation_p.V44M	NM_004054	NP_004045	Q16581	C3AR_HUMAN	Homo sapiens complement component 3a receptor 1 (C3AR1), mRNA.	44					blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response	integral to plasma membrane	C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity			breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)	20				Kidney(36;0.0893)		ACCCACAGCACCAGCCCATTG	0.542000														49			18		0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152282658	152282658	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:152282658G>A	uc001ezu.1	-	2	4740	c.4704C>T	c.(4702-4704)gcC>gcT	p.A1568A		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	1568	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.R1567Q(1)|p.R1567R(1)|p.R1567W(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TAGAGCTGCCGGCCCGAGTGG	0.587000									Ichthyosis					143			92		0	0	1	0	0
SCAF8	22828	broad.mit.edu	37	6	155154476	155154476	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:155154476G>A	uc003qqa.3	+	20	3995	c.3763G>A	c.(3763-3765)Gct>Act	p.A1255T	TIAM2_uc003qqb.3_5'UTR|SCAF8_uc011efj.2_Missense_Mutation_p.A1321T|SCAF8_uc011efk.2_Missense_Mutation_p.A1300T|SCAF8_uc003qpz.3_Missense_Mutation_p.A1255T|SCAF8_uc010kji.3_Missense_Mutation_p.A897T	NM_014892	NP_055707	Q9UPN6	SCAF8_HUMAN	Homo sapiens SR-related CTD-associated factor 8 (SCAF8), mRNA.	1255					RNA splicing|mRNA processing	nuclear matrix|spliceosomal complex	RNA binding|RNA polymerase core enzyme binding|nucleotide binding			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						TGACACAGTTGCTGATATAGA	0.383000														31			17		0	0	1	0	0
ALB	213	broad.mit.edu	37	4	74284028	74284028	+	Splice_Site	SNP	C	T	T	rs149079814	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:74284028C>T	uc003hgs.4	+	12	1725	c.1652_splice	c.e12+1	p.T551_splice	ALB_uc011cbe.2_Splice_Site_p.T230_splice|ALB_uc003hgw.4_Splice_Site_p.T359_splice|ALB_uc011cbf.2_Splice_Site_p.T441_splice	NM_000477	NP_000468	P02768	ALBU_HUMAN	Homo sapiens albumin (ALB), mRNA.	551	Albumin 3.			T -> A (in Ref. 11; CAH18185).	bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	DNA binding|antioxidant activity|chaperone binding|copper ion binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	AAGAAACAAACGTGAGGAGTA	0.358000														20			15		0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40412178	40412178	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:40412178C>T	uc002omp.4	-	6	3458	c.3450G>A	c.(3448-3450)ccG>ccA	p.P1150P		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	1150	Cys-rich.|TIL 2.					extracellular region	protein binding	p.P1150P(2)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CACAGGACAGCGGGCAGCCGT	0.622000														31			19		0	0	1	0	0
CHD6	84181	broad.mit.edu	37	20	40162052	40162052	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:40162052G>T	uc002xka.1	-	2	369	c.191C>A	c.(190-192)gCt>gAt	p.A64D	CHD6_uc002xkd.2_Missense_Mutation_p.A42D|CHD6_uc002xkc.3_Missense_Mutation_p.A99D	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 6 (CHD6), mRNA.	64					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|chromatin binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				TTCCTCTTCAGCAGTATACAG	0.463000														69			9		2.17888e-05	2.40634e-05	1	1	0
SI	6476	broad.mit.edu	37	3	164700137	164700137	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:164700137C>A	uc003fei.3	-	46	5372	c.5309G>T	c.(5308-5310)gGa>gTa	p.G1770V		NM_001041	NP_001032	P14410	SUIS_HUMAN	Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA.	1770	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	Golgi apparatus|apical plasma membrane|brush border|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	ATGAAGGGATCCAAGCCTCGT	0.343000										HNSCC(35;0.089)				37			17		0.00400662	0.00419118	1	1	0
ILVBL	10994	broad.mit.edu	37	19	15234030	15234030	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:15234030G>A	uc002nam.3	-	3	483	c.362C>T	c.(361-363)aCa>aTa	p.T121I	ILVBL_uc010dzx.1_Missense_Mutation_p.T121I	NM_006844	NP_006835	A1L0T0	ILVBL_HUMAN	Homo sapiens ilvB (bacterial acetolactate synthase)-like (ILVBL), mRNA.	121						integral to membrane	magnesium ion binding|thiamine pyrophosphate binding|transferase activity			NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)	26						AGGGCCTGCTGTCACTGCCGC	0.612000														34			18		0	0	1	0	0
UTRN	7402	broad.mit.edu	37	6	144878296	144878296	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:144878296C>A	uc003qkt.3	+	48	7230	c.7138C>A	c.(7138-7140)Ctg>Atg	p.L2380M		NM_007124	NP_009055	P46939	UTRO_HUMAN	Homo sapiens utrophin (UTRN), mRNA.	2380					muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		ACCTCAGATACTGCTTCAAGA	0.443000														40			6		0.000274275	0.000294507	1	1	0
MARVELD2	153562	broad.mit.edu	37	5	68728780	68728780	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:68728780C>T	uc003jwq.3	+	4	1437	c.1363C>T	c.(1363-1365)Cga>Tga	p.R455*	MARVELD2_uc010ixf.3_Nonsense_Mutation_p.R443*|MARVELD2_uc003jws.1_Non-coding_Transcript	NM_001038603	NP_001033692	Q8N4S9	MALD2_HUMAN	Homo sapiens MARVEL domain containing 2 (MARVELD2), transcript variant 1, mRNA.	455					sensory perception of sound	integral to membrane|tight junction				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(4)|skin(1)|urinary_tract(1)	15		Lung NSC(167;0.000937)|Prostate(74;0.0187)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;7.31e-57)|Epithelial(20;1.05e-52)|all cancers(19;2.63e-48)|Lung(70;0.0183)		AGATGATGAGCGAGAACGCTA	0.413000														57			38		0	0	1	0	0
DOPEY1	23033	broad.mit.edu	37	6	83857007	83857007	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:83857007A>G	uc011dyy.2	+	25	5962	c.5702A>G	c.(5701-5703)cAa>cGa	p.Q1901R	DOPEY1_uc003pjs.1_Missense_Mutation_p.Q1910R|DOPEY1_uc010kbl.1_Missense_Mutation_p.Q1901R|DOPEY1_uc003pjt.3_Non-coding_Transcript	NM_001199942	NP_001186871	Q5JWR5	DOP1_HUMAN	Homo sapiens dopey family member 1 (DOPEY1), transcript variant 2, mRNA.	1910					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		GCTTATATTCAAAGGTAAGAT	0.284000														24			12		0	0	1	0	0
PIK3C2A	5286	broad.mit.edu	37	11	17190742	17190742	+	Nonsense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:17190742C>A	uc001mmq.4	-	0	612	c.547G>T	c.(547-549)Gaa>Taa	p.E183*	PIK3C2A_uc009ygu.1_Intron|PIK3C2A_uc010rcw.2_Intron|PIK3C2A_uc001mmr.3_Non-coding_Transcript|PIK3C2A_uc010rcx.1_Nonsense_Mutation_p.E183*|PIK3C2A_uc009ygv.1_Nonsense_Mutation_p.E183*	NM_002645	NP_002636	O00443	P3C2A_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, alpha polypeptide (PIK3C2A), mRNA.	183					cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	Golgi apparatus|clathrin-coated vesicle|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58					Phosphatidylserine(DB00144)	TATATAGGTTCTGTAGATGGA	0.398000														66			38		2.40579e-17	3.06446e-17	1	1	0
C2orf63	130162	broad.mit.edu	37	2	55449462	55449462	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:55449462C>A	uc002ryi.2	-	2	432	c.86G>T	c.(85-87)aGa>aTa	p.R29I	C2orf63_uc002ryh.2_5'UTR|C2orf63_uc002ryj.2_Intron	NM_152385	NP_001129070	Q8NHS4	CB063_HUMAN	Homo sapiens chromosome 2 open reading frame 63 (C2orf63), transcript variant 1, mRNA.	29							binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20			LUSC - Lung squamous cell carcinoma(58;0.179)|Lung(47;0.189)			AATTATGTATCTTTGCACACT	0.348000														83			30		2.85442e-18	3.65487e-18	1	1	0
HSF4	3299	broad.mit.edu	37	16	67201093	67201093	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:67201093G>A	uc002erl.2	+	8	1662	c.697G>A	c.(697-699)Gcc>Acc	p.A233T	HSF4_uc002erm.2_Missense_Mutation_p.A233T|HSF4_uc002ern.1_Non-coding_Transcript|HSF4_uc010cec.1_Non-coding_Transcript	NM_001040667	NP_001035757	Q9ULV5	HSF4_HUMAN	Homo sapiens heat shock transcription factor 4 (HSF4), transcript variant 2, mRNA.	233					response to stress	nucleus	sequence-specific DNA binding transcription factor activity|transcription corepressor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		TCTACCTGGTGCCCTTCTGCA	0.597000														39			27		0	0	1	0	0
CSK	1445	broad.mit.edu	37	15	75093199	75093199	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:75093199G>A	uc010bkb.1	+	8	841	c.658G>A	c.(658-660)Gcc>Acc	p.A220T	CSK_uc002ays.2_Missense_Mutation_p.A220T|CSK_uc010bkc.1_Missense_Mutation_p.A29T	NM_001127190	NP_004374	P41240	CSK_HUMAN	Homo sapiens c-src tyrosine kinase (CSK), transcript variant 2, mRNA.	220	Protein kinase.				T cell costimulation|T cell receptor signaling pathway|blood coagulation|epidermal growth factor receptor signaling pathway	Golgi apparatus|centrosome|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein C-terminus binding			central_nervous_system(1)|lung(2)	3						GAACAAAGTCGCCGTCAAGTG	0.632000											OREG0023291	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		12			10		0	0	1	0	0
SIGLEC8	27181	broad.mit.edu	37	19	51958020	51958020	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:51958020C>T	uc002pwt.3	-	4	1133	c.1066G>A	c.(1066-1068)Gta>Ata	p.V356I	SIGLEC8_uc010yda.2_Missense_Mutation_p.V247I|SIGLEC8_uc002pwu.3_Non-coding_Transcript|SIGLEC8_uc010eox.2_Missense_Mutation_p.V263I	NM_014442	NP_055257	Q9NYZ4	SIGL8_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 8 (SIGLEC8), mRNA.	356					cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		ACTTGTGATACAGGTCTTGAG	0.557000														49			4		0	0	1	0	0
CRIPAK	285464	broad.mit.edu	37	4	1388596	1388596	+	Silent	SNP	C	T	T	rs151313714	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:1388596C>T	uc003gdf.2	+	0	3257	c.297C>T	c.(295-297)caC>caT	p.H99H		NM_175918	NP_787114	Q8N1N5	CRPAK_HUMAN	Homo sapiens cysteine-rich PAK1 inhibitor (CRIPAK), mRNA.	99					ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding			NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			TGCTCACACACGTGCCCATGT	0.647000														100			26		0	0	1	0	0
C5orf25	375484	broad.mit.edu	37	5	175717181	175717181	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:175717181C>A	uc003mds.4	+	3	1004	c.597C>A	c.(595-597)gcC>gcA	p.A199A	C5orf25_uc003mdr.3_Intron|C5orf25_uc003mdt.4_Intron|C5orf25_uc011dfk.1_Silent_p.A218A|C5orf25_uc003mdu.1_Silent_p.A110A			Q8NDZ2	CE025_HUMAN	Homo sapiens chromosome 5 open reading frame 25 (C5orf25), mRNA.	199	Pro-rich.											all_cancers(89;0.00381)|Renal(175;0.000269)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.119)		CACCACAGGCCTTGCCGTGCC	0.587000														13			5		0.184627	0.186034	1	1	0
RAC1	5879	broad.mit.edu	37	7	6426844	6426844	+	Splice_Site	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:6426844G>A	uc003spx.3	+	2	277	c.36_splice	c.e2-1	p.G12_splice	RAC1_uc003spw.3_Splice_Site_p.G12_splice|RAC1_uc021zzg.1_Splice_Site	NM_006908	NP_008839	P63000	RAC1_HUMAN	Homo sapiens ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1) (RAC1), transcript variant Rac1, mRNA.	12					T cell costimulation|actin filament polymerization|apoptosis|axon guidance|cell motility|cell-matrix adhesion|induction of apoptosis by extracellular signals|inflammatory response|lamellipodium assembly|localization within membrane|negative regulation of interleukin-23 production|negative regulation of receptor-mediated endocytosis|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of Rho protein signal transduction|positive regulation of lamellipodium assembly|regulation of cell migration|regulation of defense response to virus by virus|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|ruffle organization|small GTPase mediated signal transduction|viral reproduction	cytosol|melanosome|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity|thioesterase binding			cervix(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.104)	Pravastatin(DB00175)|Simvastatin(DB00641)	TCTCTTTAGAGCTGTAGGTAA	0.323000														42			72		0	0	1	0	0
XYLT2	64132	broad.mit.edu	37	17	48433533	48433533	+	Missense_Mutation	SNP	C	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:48433533C>G	uc002iqo.3	+	6	1502	c.1393C>G	c.(1393-1395)Ctg>Gtg	p.L465V	XYLT2_uc010dbo.3_Non-coding_Transcript	NM_022167	NP_071450	Q9H1B5	XYLT2_HUMAN	Homo sapiens xylosyltransferase II (XYLT2), mRNA.	465					glycosaminoglycan biosynthetic process	Golgi membrane|endoplasmic reticulum membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12	Breast(11;7.18e-19)					GAACCGCAAGCTGGGCTGCAA	0.602000														51			5		0	0	1	0	0
C3orf67	200844	broad.mit.edu	37	3	58856000	58856000	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:58856000T>G	uc003dkt.1	-	7	785	c.376A>C	c.(376-378)Aac>Cac	p.N126H	C3orf67_uc003dks.1_5'Flank|AK090895_uc003dku.1_Intron|C3orf67_uc003dkv.1_5'UTR|C3orf67_uc003dkw.3_Missense_Mutation_p.N34H	NM_198463	NP_940865	Q6ZVT6	CC067_HUMAN	Homo sapiens chromosome 3 open reading frame 67 (C3orf67), mRNA.	126										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)		TTTTTACTGTTCCGTGTAATA	0.383000														51			4		0	0	1	0	0
LPA	4018	broad.mit.edu	37	6	161015120	161015120	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:161015120C>A	uc003qtl.3	-	22	3619	c.3499G>T	c.(3499-3501)Gat>Tat	p.D1167Y		NM_005577	NP_005568	P08519	APOA_HUMAN	Homo sapiens lipoprotein, Lp(a) (LPA), mRNA.	3675	Kringle 11.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	TGGTAGCAATCCTGGACCCCG	0.478000														61			6		0.0381472	0.0388409	1	1	0
C11orf41	25758	broad.mit.edu	37	11	33566375	33566375	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:33566375A>G	uc021qfs.1	+	1	2069	c.1945A>G	c.(1945-1947)Aaa>Gaa	p.K649E	C11orf41_uc001mun.1_Missense_Mutation_p.K655E	NM_012194	NP_036326	Q6ZVL6	CK041_HUMAN	Homo sapiens chromosome 11 open reading frame 41 (C11orf41), mRNA.	649						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	52						GTTTCTGAGGAAATCAAGTCC	0.517000														17			11		0	0	1	0	0
GRIA2	2891	broad.mit.edu	37	4	158257783	158257783	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:158257783G>T	uc003ipm.4	+	10	2187	c.1728G>T	c.(1726-1728)gaG>gaT	p.E576D	GRIA2_uc011cit.2_Missense_Mutation_p.E529D|GRIA2_uc003ipl.4_Missense_Mutation_p.E576D|GRIA2_uc003ipk.4_Missense_Mutation_p.E529D|GRIA2_uc010iqh.1_Non-coding_Transcript	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 2 (GRIA2), transcript variant 2, mRNA.	576					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	ACACTGAGGAGTTTGAAGATG	0.418000														102			11		0.00010058	0.000109296	1	1	0
RETSAT	54884	broad.mit.edu	37	2	85577194	85577194	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:85577194C>A	uc002spd.3	-	3	959	c.768G>T	c.(766-768)caG>caT	p.Q256H	RETSAT_uc010fge.3_Non-coding_Transcript|RETSAT_uc010ysm.2_Missense_Mutation_p.Q195H	NM_017750	NP_060220	Q6NUM9	RETST_HUMAN	Homo sapiens retinol saturase (all-trans-retinol 13,14-reductase) (RETSAT), mRNA.	256					retinol metabolic process	endoplasmic reticulum membrane|nuclear outer membrane	all-trans-retinol 13,14-reductase activity|electron carrier activity			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30					Vitamin A(DB00162)	TGAGTACTGCCTGGAGCTCAG	0.597000														40			22		6.44725e-10	7.73661e-10	1	1	0
CYP11B1	1584	broad.mit.edu	37	8	143958578	143958578	+	Silent	SNP	G	A	A	rs61751149		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:143958578G>A	uc010mey.3	-	4	676	c.669C>T	c.(667-669)aaC>aaT	p.N223N	CYP11B1_uc010mex.3_5'Flank|CYP11B1_uc003yxh.3_5'Flank|CYP11B1_uc003yxi.3_Silent_p.N152N|CYP11B1_uc003yxj.3_Silent_p.N152N	NM_000497	NP_000488	P15538	C11B1_HUMAN	Homo sapiens cytochrome P450, family 11, subfamily B, polypeptide 1 (CYP11B1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	152					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity	p.N152N(1)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	TCTGCACAGCGTTGGGCGACA	0.632000									Familial Hyperaldosteronism type I					19			12		0	0	1	0	0
PRPF8	10594	broad.mit.edu	37	17	1561966	1561966	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:1561966G>A	uc002fte.3	-	32	5344	c.5230C>T	c.(5230-5232)Cgt>Tgt	p.R1744C		NM_006445	NP_006436	Q6P2Q9	PRP8_HUMAN	Homo sapiens PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae) (PRPF8), mRNA.	1744	Involved in interaction with pre-mRNA 5' splice site.					U5 snRNP|catalytic step 2 spliceosome|nuclear speck	RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		ATCCGTTCACGTAACACATAC	0.498000														37			18		0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	30935400	30935400	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:30935400C>T	uc002nsu.1	+	1	1069	c.931C>T	c.(931-933)Cag>Tag	p.Q311*	ZNF536_uc010edd.1_Nonsense_Mutation_p.Q311*	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	311					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CGCGGCTTCGCAGGAGGAGGA	0.642000														101			10		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140182502	140182502	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140182502G>A	uc003lhf.2	+	0	1720	c.1720G>A	c.(1720-1722)Ggt>Agt	p.G574S	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc011czy.2_Intron|PCDHAC2_uc011czz.2_Missense_Mutation_p.G574S	NM_018906	NP_061729	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 3 (PCDHA3), transcript variant 1, mRNA.	587	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)			GGGTGGCATCGGTGGCGCAGT	0.682000														69			7		0	0	1	0	0
HUS1	3364	broad.mit.edu	37	7	48016412	48016412	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:48016412C>T	uc003tod.2	-	3	486	c.380G>A	c.(379-381)cGc>cAc	p.R127H		NM_004507	NP_004498	O60921	HUS1_HUMAN	Homo sapiens HUS1 checkpoint homolog (S. pombe) (HUS1), transcript variant 1, mRNA.	127					DNA damage checkpoint|DNA replication	Golgi apparatus|nucleolus|nucleoplasm	protein binding	p.S126T(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|prostate(1)	13		Breast(660;0.00139)				GGTCACAATGCGGCTACTGCT	0.418000								Direct reversal of damage;Other conserved DNA damage response genes						148			9		0	0	1	0	0
ZNF544	27300	broad.mit.edu	37	19	58773135	58773135	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58773135C>A	uc010euo.3	+	6	1637	c.1163C>A	c.(1162-1164)tCt>tAt	p.S388Y	ZNF544_uc010yhw.1_Non-coding_Transcript|ZNF544_uc010yhx.2_Missense_Mutation_p.S360Y|ZNF544_uc010yhy.2_Missense_Mutation_p.S360Y|ZNF544_uc002qrt.4_Missense_Mutation_p.S246Y|ZNF544_uc002qru.4_Missense_Mutation_p.S246Y|BC063675_uc002qrx.1_Intron	NM_014480	NP_055295	Q6NX49	ZN544_HUMAN	Homo sapiens zinc finger protein 544 (ZNF544), mRNA.	388					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	18		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)		TGTGGGAAATCTTTTAGCCAG	0.463000														48			15		6.31663e-08	7.34157e-08	1	1	0
INPPL1	3636	broad.mit.edu	37	11	71942546	71942546	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:71942546C>T	uc001osf.3	+	12	1649	c.1502C>T	c.(1501-1503)gCc>gTc	p.A501V	INPPL1_uc001osg.3_Missense_Mutation_p.A259V	NM_001567	NP_001558	O15357	SHIP2_HUMAN	Homo sapiens inositol polyphosphate phosphatase-like 1 (INPPL1), mRNA.	501					actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	SH2 domain binding|SH3 domain binding|actin binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						ACCCAGATTGCCATGCAATCA	0.522000														27			12		0	0	1	0	0
USH1C	10083	broad.mit.edu	37	11	17544785	17544785	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:17544785G>A	uc001mnf.3	-	10	958	c.849C>T	c.(847-849)agC>agT	p.S283S	USH1C_uc001mne.3_Silent_p.S283S|USH1C_uc009yhb.3_Intron|USH1C_uc001mng.3_Non-coding_Transcript|USH1C_uc001mnd.3_Silent_p.S247S	NM_005709	NP_005700	Q9Y6N9	USH1C_HUMAN	Homo sapiens Usher syndrome 1C (autosomal recessive, severe) (USH1C), transcript variant 1, mRNA.	283	PDZ 2.				G2/M transition of mitotic cell cycle|equilibrioception|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						AGATGGTCAGGCTGCGGCTAC	0.582000														73			57		0	0	1	0	0
CTC1	80169	broad.mit.edu	37	17	8141404	8141404	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:8141404C>T	uc002gkq.4	-	3	651	c.592G>A	c.(592-594)Gtc>Atc	p.V198I	CTC1_uc010cnv.3_Non-coding_Transcript	NM_025099	NP_079375	Q2NKJ3	CTC1_HUMAN	Homo sapiens CTS telomere maintenance complex component 1 (CTC1), mRNA.	198					positive regulation of DNA replication|telomere maintenance	Stn1-Ten1 complex	protein binding|single-stranded DNA binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						ATAGGCGTGACGGGGCCAGGA	0.587000														46			28		0	0	1	0	0
ODZ1	10178	broad.mit.edu	37	X	123554644	123554644	+	Missense_Mutation	SNP	T	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:123554644T>A	uc010nqy.3	-	24	4563	c.4499A>T	c.(4498-4500)aAg>aTg	p.K1500M	ODZ1_uc011muj.2_Missense_Mutation_p.K1499M|ODZ1_uc004euj.3_Missense_Mutation_p.K1493M	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	1493					immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	212						GGCTTTCATCTTTGCATCTTT	0.458000														96			10		0	0	1	0	0
FANCM	57697	broad.mit.edu	37	14	45605531	45605531	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:45605531C>T	uc001wwd.4	+	0	396	c.297C>T	c.(295-297)tcC>tcT	p.S99S	FANCM_uc001wwc.2_Silent_p.S99S|FANCM_uc010anf.3_Silent_p.S99S|FKBP3_uc010tqf.2_5'Flank	NM_020937	NP_065988	Q8IYD8	FANCM_HUMAN	Homo sapiens Fanconi anemia, complementation group M (FANCM), mRNA.	99	Helicase ATP-binding.				DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|DNA binding|chromatin binding|nuclease activity|protein binding	p.I98F(1)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						TGCACATTTCCCGGGCTGCTC	0.567000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia					69			7		0	0	1	0	0
NCOR2	9612	broad.mit.edu	37	12	124950731	124950731	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:124950731G>A	uc021rga.1	-	4	810	c.693C>T	c.(691-693)taC>taT	p.Y231Y	NCOR2_uc021rgb.1_Silent_p.Y231Y|NCOR2_uc010tbb.2_Silent_p.Y231Y|NCOR2_uc010tbc.2_Silent_p.Y231Y|NCOR2_uc021rgc.1_Silent_p.Y231Y|NCOR2_uc010tba.2_Silent_p.Y231Y|NCOR2_uc001ugj.1_Silent_p.Y231Y|NCOR2_uc001ugk.1_Silent_p.Y231Y	NM_006312	NP_006303	Q9Y618	NCOR2_HUMAN	Homo sapiens nuclear receptor corepressor 2 (NCOR2), transcript variant 1, mRNA.	231					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|Notch binding|histone deacetylase binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GGTTCTCGTCGTAGATGATCT	0.657000														50			30		0	0	1	0	0
SCN2A	6326	broad.mit.edu	37	2	166245552	166245552	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:166245552T>C	uc002udc.3	+	26	5526	c.5236T>C	c.(5236-5238)Tgt>Cgt	p.C1746R	SCN2A_uc002udd.3_Missense_Mutation_p.C1746R|SCN2A_uc002ude.3_Missense_Mutation_p.C1746R|SCN2A_uc021vry.1_Missense_Mutation_p.C246R	NM_001040142	NP_066287	Q99250	SCN2A_HUMAN	Homo sapiens sodium channel, voltage-gated, type II, alpha subunit (SCN2A), transcript variant 2, mRNA.	1746					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	TAAAGGAGACTGTGGGAACCC	0.468000														153			19		0	0	1	0	0
RELA	5970	broad.mit.edu	37	11	65429251	65429251	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:65429251G>T	uc010ron.2	-	3	415	c.275C>A	c.(274-276)cCt>cAt	p.P92H	RELA_uc001off.3_Missense_Mutation_p.P81H|RELA_uc001ofh.3_Missense_Mutation_p.P81H|RELA_uc001ofg.3_Missense_Mutation_p.P81H|RELA_uc021qlq.1_Missense_Mutation_p.P81H|RELA_uc009yqr.3_Missense_Mutation_p.P28H|RELA_uc001ofe.2_Missense_Mutation_p.P81H|RELA_uc009yqs.1_5'Flank	NM_021975	NP_068810	Q04206	TF65_HUMAN	Homo sapiens v-rel reticuloendotheliosis viral oncogene homolog A (avian) (RELA), transcript variant 1, mRNA.	81	RHD.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T cell receptor signaling pathway|Toll signaling pathway|anti-apoptosis|cellular defense response|cytokine-mediated signaling pathway|defense response to virus|inflammatory response|innate immune response|interspecies interaction between organisms|membrane protein intracellular domain proteolysis|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of inflammatory response|response to UV-B|response to interleukin-1|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|transcription factor complex	NF-kappaB binding|activating transcription factor binding|chromatin binding|identical protein binding|phosphate binding|protein N-terminus binding|protein kinase binding|repressing transcription factor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(11)|ovary(1)|urinary_tract(1)	19						CCGGTGAGGAGGGTCCTTGGT	0.592000														45			9		1.08611e-07	1.25606e-07	1	1	0
NDUFA9	4704	broad.mit.edu	37	12	4764024	4764024	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:4764024G>A	uc001qnc.3	+	2	283	c.254G>A	c.(253-255)cGg>cAg	p.R85Q	NDUFA9_uc009zei.2_Missense_Mutation_p.R85Q	NM_005002	NP_004993	Q16795	NDUA9_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa (NDUFA9), nuclear gene encoding mitochondrial protein, mRNA.	85					mitochondrial electron transport, NADH to ubiquinone|sodium ion transport	mitochondrial matrix|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity|protein binding	p.R85L(4)		NS(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21					NADH(DB00157)	ATACCCTATCGGTGTGATAAA	0.403000														39			26		0	0	1	0	0
DPP8	54878	broad.mit.edu	37	15	65739321	65739321	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:65739321G>A	uc002aov.3	-	19	4176	c.2598C>T	c.(2596-2598)agC>agT	p.S866S	DPP8_uc002aow.3_Silent_p.S866S|DPP8_uc010uiv.2_Non-coding_Transcript|DPP8_uc021soz.1_Silent_p.S850S|DPP8_uc002aox.3_Silent_p.S850S|DPP8_uc002aoy.3_Silent_p.S815S|DPP8_uc002aoz.3_Silent_p.S750S|DPP8_uc010bhj.3_Silent_p.S866S|DPP8_uc010bhi.3_Silent_p.S169S	NM_130434	NP_569118	Q6V1X1	DPP8_HUMAN	Homo sapiens dipeptidyl-peptidase 8 (DPP8), transcript variant 1, mRNA.	866					immune response|proteolysis	cytoplasm|membrane|nucleus	aminopeptidase activity|dipeptidyl-peptidase activity|serine-type peptidase activity			NS(1)|breast(2)|endometrium(3)|large_intestine(11)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						GAACTCTTATGCTGTGTCTCT	0.343000														79			25		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13758996	13758996	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:13758996C>T	uc003jfd.2	-	60	10420	c.10378G>A	c.(10378-10380)Gtg>Atg	p.V3460M	DNAH5_uc003jfc.2_5'UTR	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3460	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GCCTGCACCACGTCAAGTTCC	0.547000									Kartagener syndrome					82			43		0	0	1	0	0
CPN1	1369	broad.mit.edu	37	10	101841303	101841303	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:101841303C>T	uc001kql.2	-	0	340	c.80G>A	c.(79-81)cGc>cAc	p.R27H		NM_001308	NP_001299	P15169	CBPN_HUMAN	Homo sapiens carboxypeptidase N, polypeptide 1 (CPN1), mRNA.	27	Catalytic.				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)		ATCATCATAGCGGTGGTGGCG	0.567000														27			8		0	0	1	0	0
THSD4	79875	broad.mit.edu	37	15	71952960	71952960	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:71952960C>T	uc002atb.1	+	6	1323	c.1244C>T	c.(1243-1245)tCg>tTg	p.S415L	THSD4_uc002atd.1_Missense_Mutation_p.S89L|THSD4_uc010ukg.1_Missense_Mutation_p.S55L|THSD4_uc002ate.2_Missense_Mutation_p.S55L	NM_024817	NP_079093	Q6ZMP0	THSD4_HUMAN	Homo sapiens thrombospondin, type I, domain containing 4 (THSD4), mRNA.	415						proteinaceous extracellular matrix	metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						CAGGTTGTGTCGGGCGTGTTT	0.547000														86			64		0	0	1	0	0
GP1BA	2811	broad.mit.edu	37	17	4836289	4836289	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:4836289G>A	uc021tnz.1	+	1	465	c.390G>A	c.(388-390)tcG>tcA	p.S130S	GP1BA_uc021toa.1_Non-coding_Transcript|GP1BA_uc021tob.1_Silent_p.S130S	NM_000173	NP_000164	E7ES66	E7ES66_HUMAN	Homo sapiens glycoprotein Ib (platelet), alpha polypeptide (GP1BA), mRNA.	130										central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(5)|stomach(1)|urinary_tract(1)	20						GGCTGACCTCGCTGCCTCTTG	0.612000														43			33		0	0	1	0	0
ASPG	374569	broad.mit.edu	37	14	104570806	104570806	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:104570806G>T	uc001yop.2	+	7	1004	c.919G>T	c.(919-921)Gac>Tac	p.D307Y	ASPG_uc001yoo.2_Missense_Mutation_p.D335Y|ASPG_uc001yoq.2_Missense_Mutation_p.D307Y|ASPG_uc001yor.2_Missense_Mutation_p.D307Y	NM_001080464	NP_001073933	Q86U10	LPP60_HUMAN	Homo sapiens asparaginase homolog (S. cerevisiae) (ASPG), mRNA.	307	Asparaginase.				lipid catabolic process		1-alkyl-2-acetylglycerophosphocholine esterase activity|asparaginase activity|lysophospholipase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	11						TGTGACCACAGACTATGCAGC	0.672000														8			6		3.59834e-05	3.95114e-05	1	1	0
SLC25A18	83733	broad.mit.edu	37	22	18066240	18066240	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:18066240G>A	uc002zmp.1	+	6	843	c.349G>A	c.(349-351)Gtc>Atc	p.V117I	SLC25A18_uc010gqx.3_Missense_Mutation_p.V117I|SLC25A18_uc002zmq.1_Missense_Mutation_p.V117I	NM_031481	NP_113669	Q9H1K4	GHC2_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier), member 18 (SLC25A18), nuclear gene encoding mitochondrial protein, mRNA.	117						integral to membrane|mitochondrial inner membrane	binding|symporter activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)	18				Lung(27;0.124)	L-Glutamic Acid(DB00142)	GATGTGCCAGGTCGTGGTGAC	0.607000														39			35		0	0	1	0	0
NID1	4811	broad.mit.edu	37	1	236205240	236205240	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:236205240C>A	uc001hxo.3	-	3	1207	c.1105G>T	c.(1105-1107)Gat>Tat	p.D369Y	NID1_uc009xgd.3_Missense_Mutation_p.D369Y	NM_002508	NP_002499	P14543	NID1_HUMAN	Homo sapiens nidogen 1 (NID1), mRNA.	369					cell-matrix adhesion	basement membrane	calcium ion binding			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	TCATCCACATCTATGACCTGA	0.532000														68			6		1.26484e-09	1.50989e-09	1	1	0
CGNL1	84952	broad.mit.edu	37	15	57745976	57745976	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:57745976C>T	uc010bfw.3	+	7	2343	c.2150C>T	c.(2149-2151)gCa>gTa	p.A717V	CGNL1_uc002aeg.3_Missense_Mutation_p.A717V	NM_001252335	NP_001239264	Q0VF96	CGNL1_HUMAN	Homo sapiens cingulin-like 1 (CGNL1), transcript variant 1, mRNA.	717						myosin complex|tight junction	motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		CTGGACAGTGCAAAGCGATCG	0.557000														14			13		0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228528510	228528510	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:228528510G>A	uc009xez.1	+	71	17662	c.17618G>A	c.(17617-17619)cGc>cAc	p.R5873H	OBSCN_uc001hsn.3_Missense_Mutation_p.R5873H|OBSCN_uc001hsr.1_Missense_Mutation_p.R502H	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	5873	DH.				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	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase 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)				CTGCCACAGCGCGCTGAGAAC	0.687000														3			4		0	0	1	0	0
TRPC4	7223	broad.mit.edu	37	13	38211113	38211113	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:38211113T>C	uc010abx.3	-	10	3111	c.2876A>G	c.(2875-2877)gAc>gGc	p.D959G	TRPC4_uc010abv.3_Missense_Mutation_p.D534G|TRPC4_uc001uwt.3_Missense_Mutation_p.D870G|TRPC4_uc001uws.3_Missense_Mutation_p.D954G|TRPC4_uc010tey.2_Missense_Mutation_p.D813G|TRPC4_uc010abw.3_Missense_Mutation_p.D781G|TRPC4_uc010aby.3_Missense_Mutation_p.D805G	NM_003306	NP_003297	Q9UBN4	TRPC4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 4 (TRPC4), transcript variant epsilon, mRNA.	954	Binds to ITPR1, ITPR2 and ITPR3.				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		TATACTAGAGTCCTCTTCTTT	0.438000														62			8		0	0	1	0	0
OPLAH	26873	broad.mit.edu	37	8	145112765	145112765	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:145112765G>A	uc003zar.3	-	8	1232	c.1150C>T	c.(1150-1152)Cgc>Tgc	p.R384C	OPLAH_uc003zas.1_5'Flank|OPLAH_uc003zat.1_Missense_Mutation_p.R162C	NM_017570	NP_060040	O14841	OPLA_HUMAN	Homo sapiens 5-oxoprolinase (ATP-hydrolysing) (OPLAH), mRNA.	384							5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding	p.R384C(2)		breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-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;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		L-Glutamic Acid(DB00142)	TTACCTTTGCGGTAGCAGGCG	0.662000														14			7		0	0	1	0	0
HEPHL1	341208	broad.mit.edu	37	11	93826743	93826743	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:93826743A>G	uc001pep.2	+	12	2528	c.2371A>G	c.(2371-2373)Acg>Gcg	p.T791A	AF086184_uc001pen.1_Intron	NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN	Homo sapiens hephaestin-like 1 (HEPHL1), mRNA.	791	Plastocyanin-like 5.				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)				CAGGGAATATACGGATGGAGA	0.463000														61			60		0	0	1	0	0
GK5	256356	broad.mit.edu	37	3	141901842	141901842	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:141901842C>A	uc003euq.2	-	9	1018	c.866G>T	c.(865-867)gGt>gTt	p.G289V	GK5_uc003eup.1_Missense_Mutation_p.G10V|GK5_uc010hus.2_Non-coding_Transcript	NM_001039547	NP_001034636	Q6ZS86	GLPK5_HUMAN	Homo sapiens glycerol kinase 5 (putative) (GK5), transcript variant 1, mRNA.	289					glycerol metabolic process		ATP binding|glycerol kinase activity			kidney(1)|large_intestine(1)|lung(7)|urinary_tract(1)	10						TTTCACATCACCTGTCTGGAA	0.413000														69			5		0.184627	0.186034	1	1	0
NCOR1	9611	broad.mit.edu	37	17	16049780	16049780	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:16049780C>A	uc002gpo.3	-	9	1261	c.992G>T	c.(991-993)aGg>aTg	p.R331M	NCOR1_uc002gpn.3_Missense_Mutation_p.R331M|NCOR1_uc002gpp.1_Missense_Mutation_p.R222M|NCOR1_uc002gpr.3_Missense_Mutation_p.R222M|NCOR1_uc002gps.2_Missense_Mutation_p.R340M|NCOR1_uc010cpb.2_Missense_Mutation_p.R340M|NCOR1_uc010coz.2_Missense_Mutation_p.R147M|NCOR1_uc010cpa.2_Missense_Mutation_p.R331M	NM_006311	NP_006302	O75376	NCOR1_HUMAN	Homo sapiens nuclear receptor corepressor 1 (NCOR1), transcript variant 1, mRNA.	331	Interaction with ZBTB33 and HEXIM1.				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding	p.R330L(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		TTTAGCTTTCCTCCGAGGATT	0.383000														27			32		5.6714e-07	6.48683e-07	1	1	0
SLC4A4	8671	broad.mit.edu	37	4	72306478	72306478	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:72306478C>A	uc010iic.3	+	7	1070	c.953C>A	c.(952-954)cCt>cAt	p.P318H	SLC4A4_uc003hfy.3_Missense_Mutation_p.P318H|SLC4A4_uc010iib.3_Missense_Mutation_p.P318H|SLC4A4_uc003hfz.3_Missense_Mutation_p.P318H|SLC4A4_uc003hgc.4_Missense_Mutation_p.P274H|SLC4A4_uc003hga.2_Missense_Mutation_p.P196H|SLC4A4_uc003hgb.3_Missense_Mutation_p.P274H	NM_001134742	NP_001128214	Q9Y6R1	S4A4_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 4 (SLC4A4), transcript variant 3, mRNA.	318						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			ACTGAAGTTCCTGTGCCCACA	0.488000														97			11		0.000151284	0.000164177	1	1	0
STXBP1	6812	broad.mit.edu	37	9	130444731	130444731	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:130444731C>T	uc004brk.2	+	17	1791	c.1594C>T	c.(1594-1596)Cgc>Tgc	p.R532C	STXBP1_uc004brl.2_Missense_Mutation_p.R532C	NM_003165	NP_003156	P61764	STXB1_HUMAN	Homo sapiens syntaxin binding protein 1 (STXBP1), transcript variant 1, mRNA.	532					axon target recognition|energy reserve metabolic process|glutamate secretion|negative regulation of synaptic transmission, GABAergic|neurotransmitter secretion|platelet aggregation|platelet degranulation|protein transport|regulation of insulin secretion|regulation of synaptic vesicle priming|synaptic vesicle maturation|vesicle docking involved in exocytosis	cytosol|mitochondrion|plasma membrane|platelet alpha granule|protein complex	identical protein binding|syntaxin-1 binding|syntaxin-2 binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|skin(2)	23						AGGCGAGTACCGCAGTGGCCC	0.572000														33			27		0	0	1	0	0
PRPS2	5634	broad.mit.edu	37	X	12828249	12828249	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:12828249G>A	uc004cva.3	+	3	666	c.523G>A	c.(523-525)Gca>Aca	p.A175T	PRPS2_uc004cvb.3_Missense_Mutation_p.A172T|PRPS2_uc010nec.3_Missense_Mutation_p.A108T	NM_001039091	NP_001034180	P11908	PRPS2_HUMAN	Homo sapiens phosphoribosyl pyrophosphate synthetase 2 (PRPS2), transcript variant 1, mRNA.	172					nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	16						TTCACCTGACGCAGGGGGAGC	0.463000														59			34		0	0	1	0	0
TSSK6	83983	broad.mit.edu	37	19	19625988	19625988	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:19625988G>A	uc002nmr.3	-	0	482	c.249C>T	c.(247-249)aaC>aaT	p.N83N	TSSK6_uc002nmq.3_Non-coding_Transcript|YJEFN3_uc021uqu.1_5'Flank|YJEFN3_uc021uqv.1_5'Flank|YJEFN3_uc021uqw.1_5'Flank	NM_032037	NP_114426	Q9BXA6	TSSK6_HUMAN	Homo sapiens testis-specific serine kinase 6 (TSSK6), mRNA.	83	Protein kinase.				multicellular organismal development|sperm chromatin condensation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	16						ACAGTTTCCCGTTGCACACCT	0.637000														22			23		0	0	1	0	0
ATP6V0D2	245972	broad.mit.edu	37	8	87165057	87165057	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:87165057G>A	uc003ydp.1	+	7	973	c.904G>A	c.(904-906)Gtg>Atg	p.V302M		NM_152565	NP_689778	Q8N8Y2	VA0D2_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2 (ATP6V0D2), mRNA.	302					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	apical plasma membrane|endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex	hydrogen ion transmembrane transporter activity|protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|prostate(1)	27						ACAAATGAATGTGCTGGCATT	0.353000														98			6		0	0	1	0	0
TBC1D13	54662	broad.mit.edu	37	9	131559450	131559450	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:131559450T>G	uc010myj.3	+	6	623	c.500T>G	c.(499-501)cTg>cGg	p.L167R	TBC1D13_uc010myk.3_Missense_Mutation_p.L167R|TBC1D13_uc010myl.3_5'UTR	NM_018201	NP_060671	Q9NVG8	TBC13_HUMAN	Homo sapiens TBC1 domain family, member 13 (TBC1D13), mRNA.	167	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	6						CAGACAACACTGAAATCTCAG	0.527000														62			41		0	0	1	0	0
LTBP3	4054	broad.mit.edu	37	11	65319442	65319442	+	Splice_Site	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:65319442C>T	uc001oej.3	-	8	1800	c.1531_splice	c.e8+1	p.G511_splice	LTBP3_uc001oeh.3_5'Flank|LTBP3_uc010roi.2_Splice_Site_p.G394_splice|LTBP3_uc001oei.3_Splice_Site_p.G511_splice|LTBP3_uc010roj.2_Splice_Site_p.G212_splice|LTBP3_uc010rok.1_Splice_Site_p.G422_splice|U7_uc021qll.1_5'Flank	NM_001130144	NP_001123616	Q9NS15	LTBP3_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 3 (LTBP3), transcript variant 1, mRNA.	511						extracellular region	calcium ion binding|growth factor binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						TCAGGCTAGACCTCTCTCTTC	0.602000											OREG0021081	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		98			88		0	0	1	0	0
ZMIZ2	83637	broad.mit.edu	37	7	44802511	44802511	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:44802511G>A	uc003tlr.3	+	11	1751	c.1628G>A	c.(1627-1629)cGc>cAc	p.R543H	ZMIZ2_uc003tlq.3_Missense_Mutation_p.R485H|ZMIZ2_uc003tls.3_Missense_Mutation_p.R517H|ZMIZ2_uc003tlt.3_Missense_Mutation_p.R166H|ZMIZ2_uc010kyj.3_Missense_Mutation_p.R65H|ZMIZ2_uc003tlu.3_5'Flank	NM_031449	NP_113637	Q8NF64	ZMIZ2_HUMAN	Homo sapiens zinc finger, MIZ-type containing 2 (ZMIZ2), transcript variant 1, mRNA.	543					positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CTAGTGCACCGCCCATCCGTC	0.637000														268			70		0	0	1	0	0
DKC1	1736	broad.mit.edu	37	X	154004499	154004499	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:154004499C>A	uc004fmm.3	+	13	1586	c.1376C>A	c.(1375-1377)cCt>cAt	p.P459H	DKC1_uc010nvf.3_Missense_Mutation_p.P454H	NM_001363	NP_001354	O60832	DKC1_HUMAN	Homo sapiens dyskeratosis congenita 1, dyskerin (DKC1), transcript variant 1, mRNA.	459	Nuclear and nucleolar localization.				cell proliferation|pseudouridine synthesis|rRNA processing|telomere maintenance via telomerase	Cajal body|nucleolus|telomerase holoenzyme complex	RNA binding|protein binding|pseudouridine synthase activity|telomerase activity			breast(2)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)	15	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GACGAGACTCCTCCAGCAGCT	0.493000									Congenital Dyskeratosis					27			21		1.50039e-11	1.83529e-11	1	1	0
KIAA0556	23247	broad.mit.edu	37	16	27789064	27789064	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:27789064G>A	uc002dow.3	+	25	4709	c.4685G>A	c.(4684-4686)cGc>cAc	p.R1562H	KIAA0556_uc010vco.2_Missense_Mutation_p.R64H	NM_015202	NP_056017	O60303	K0556_HUMAN	Homo sapiens KIAA0556 (KIAA0556), mRNA.	1562										breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						AGGGACATCCGCCACCAGGAG	0.657000														38			24		0	0	1	0	0
OR2T11	127077	broad.mit.edu	37	1	248789891	248789891	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:248789891G>A	uc001ier.1	-	0	539	c.539C>T	c.(538-540)gCa>gTa	p.A180V		NM_001001964	NP_001001964	Q8NH01	O2T11_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 11 (OR2T11), mRNA.	180					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(5)|lung(20)|skin(2)	28	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)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TTTCAGAACTGCTGGGATCTC	0.493000														67			11		0	0	1	0	0
GABRR3	200959	broad.mit.edu	37	3	97705802	97705802	+	RNA	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:97705802C>T	uc021xbo.1	-	9		c.1246G>A				NM_001105580		A8MPY1	GBRR3_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) receptor, rho 3 (GABRR3), mRNA.						gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			large_intestine(2)|lung(1)	3						GCTTGAACTGCATCAATATTG	0.338000														4			6		0	0	1	0	0
RABGGTA	5875	broad.mit.edu	37	14	24737353	24737353	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:24737353G>T	uc001wof.3	-	10	1532	c.1110C>A	c.(1108-1110)tcC>tcA	p.S370S	RABGGTA_uc001wog.3_Silent_p.S370S	NM_004581	NP_878256	Q92696	PGTA_HUMAN	Homo sapiens Rab geranylgeranyltransferase, alpha subunit (RABGGTA), transcript variant 2, mRNA.	370					visual perception		Rab geranylgeranyltransferase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	12				GBM - Glioblastoma multiforme(265;0.0184)		GCTCCTTACAGGATTCCAGCT	0.592000														48			9		1.76689e-08	2.07166e-08	1	1	0
TBX1	6899	broad.mit.edu	37	22	19751790	19751790	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:19751790C>T	uc002zqa.1	+	4	754	c.625C>T	c.(625-627)Caa>Taa	p.Q209*	TBX1_uc002zqb.3_Nonsense_Mutation_p.Q209*|TBX1_uc002zqc.3_Nonsense_Mutation_p.Q209*	NM_080647	NP_542378	O43435	TBX1_HUMAN	Homo sapiens T-box 1 (TBX1), transcript variant C, mRNA.	209					embryonic viscerocranium morphogenesis|heart development|parathyroid gland development|pharyngeal system development|regulation of transcription from RNA polymerase II promoter|soft palate development|thymus development	nucleus	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|lung(3)|ovary(2)	8	Colorectal(54;0.0993)	all_lung(157;3.05e-06)				GTGGATGAAGCAAATCGTGTC	0.667000														44			5		0	0	1	0	0
SLC27A5	10998	broad.mit.edu	37	19	59022198	59022198	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:59022198G>A	uc002qtc.2	-	1	898	c.788C>T	c.(787-789)gCt>gTt	p.A263V		NM_012254	NP_036386	Q9Y2P5	S27A5_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 5 (SLC27A5), mRNA.	263					bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process	endoplasmic reticulum membrane|integral to membrane	ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		AGCCCCCAGAGCCCCCACCCC	0.637000														11			5		0	0	1	0	0
ANKRD5	63926	broad.mit.edu	37	20	10026343	10026343	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:10026343G>A	uc002wno.3	+	5	1211	c.818G>A	c.(817-819)cGa>cAa	p.R273Q	LOC100131208_uc002wnn.2_Intron|ANKRD5_uc002wnp.3_Missense_Mutation_p.R273Q|ANKRD5_uc010gbz.3_Missense_Mutation_p.R84Q	NM_022096	NP_942093	Q9NU02	ANKR5_HUMAN	Homo sapiens ankyrin repeat domain 5 (ANKRD5), transcript variant 1, mRNA.	273							calcium ion binding	p.R273Q(2)		breast(2)|endometrium(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	37						ATAGCTCAGCGAGGTAAAATT	0.408000														56			7		0	0	1	0	0
GABRA6	2559	broad.mit.edu	37	5	161119197	161119197	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:161119197G>T	uc003lyu.2	+	7	1415	c.1077G>T	c.(1075-1077)gaG>gaT	p.E359D	GABRA6_uc003lyv.2_Missense_Mutation_p.E130D	NM_000811	NP_000802	Q16445	GBRA6_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 6 (GABRA6), mRNA.	359					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TGGAAGCTGAGATTGTTTTGG	0.398000										TCGA Ovarian(5;0.080)				56			31		1.30897e-18	1.68055e-18	1	1	0
SAMM50	25813	broad.mit.edu	37	22	44360381	44360381	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:44360381A>G	uc003bej.3	+	2	379	c.182A>G	c.(181-183)gAt>gGt	p.D61G	PNPLA3_uc010gzm.1_Non-coding_Transcript|SAMM50_uc011aqd.2_5'UTR	NM_015380	NP_056195	Q9Y512	SAM50_HUMAN	Homo sapiens sorting and assembly machinery component 50 homolog (S. cerevisiae) (SAMM50), mRNA.	61					protein import into mitochondrial outer membrane	integral to membrane|integral to membrane of membrane fraction|mitochondrial sorting and assembly machinery complex	protein binding			endometrium(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				ACTAAAGATGATATCATCATT	0.398000														80			23		0	0	1	0	0
ARID4A	5926	broad.mit.edu	37	14	58831663	58831663	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:58831663C>T	uc001xdp.3	+	19	3110	c.2856C>T	c.(2854-2856)atC>atT	p.I952I	ARID4A_uc001xdo.3_Silent_p.I952I|ARID4A_uc001xdq.3_Silent_p.I952I|ARID4A_uc010apg.1_Silent_p.I630I	NM_002892	NP_002883	P29374	ARI4A_HUMAN	Homo sapiens AT rich interactive domain 4A (RBP1-like) (ARID4A), transcript variant 1, mRNA.	952	Retinoblastoma protein binding (Potential).				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity	p.I952I(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TGCCTCTGATCGGGCCTGAAA	0.408000														64			48		0	0	1	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18721614	18721614	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:18721614C>T	uc003zne.4	+	14	2109	c.1957C>T	c.(1957-1959)Cgg>Tgg	p.R653W		NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN	Homo sapiens ADAMTS-like 1 (ADAMTSL1), transcript variant 4, mRNA.	653	TSP type-1 5.					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)		GACCAGCCGCCGGCCCCCACA	0.602000														30			20		0	0	1	0	0
PPP1R16A	84988	broad.mit.edu	37	8	145726987	145726987	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:145726987C>T	uc003zdd.3	+	10	2201	c.1288C>T	c.(1288-1290)Cgg>Tgg	p.R430W	AK094577_uc003zde.1_5'Flank|PPP1R16A_uc003zdf.3_Missense_Mutation_p.R430W|GPT_uc011llj.1_5'Flank|GPT_uc003zdh.4_5'Flank	NM_032902	NP_116291	Q96I34	PP16A_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 16A (PPP1R16A), mRNA.	430						plasma membrane	protein binding			NS(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)	8	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			GCGACTAGACCGGAGTGTCTC	0.657000														3			4		0	0	1	0	0
PLEKHM3	389072	broad.mit.edu	37	2	208811164	208811164	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:208811164C>T	uc002vcl.2	-	3	2109	c.1619G>A	c.(1618-1620)aGt>aAt	p.S540N	PLEKHM3_uc002vcm.2_Missense_Mutation_p.S540N	NM_001080475	NP_001073944	Q6ZWE6	PKHM3_HUMAN	Homo sapiens pleckstrin homology domain containing, family M, member 3 (PLEKHM3), mRNA.	540					intracellular signal transduction		metal ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GTGGCAGCTACTGCAGTAATA	0.458000														71			48		0	0	1	0	0
GART	2618	broad.mit.edu	37	21	34907045	34907045	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:34907045G>T	uc002yrz.3	-	3	567	c.256C>A	c.(256-258)Ctg>Atg	p.L86M	GART_uc002yrx.3_Missense_Mutation_p.L86M|GART_uc010gmd.3_5'UTR|GART_uc002yry.3_Missense_Mutation_p.L86M|GART_uc002ysa.2_Missense_Mutation_p.L86M	NM_001136005	NP_001129478	P22102	PUR2_HUMAN	Homo sapiens phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase (GART), transcript variant 3, mRNA.	86					'de novo' IMP biosynthetic process|purine base biosynthetic process	cytosol	ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding			NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1)	31					Pemetrexed(DB00642)	GCAGACCTCAGGTTCCCAACA	0.473000														29			14		3.27435e-08	3.82583e-08	1	1	0
SPTA1	6708	broad.mit.edu	37	1	158612230	158612230	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:158612230C>T	uc001fst.1	-	32	4907	c.4708G>A	c.(4708-4710)Gct>Act	p.A1570T		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	1570				Missing (in Ref. 1; AAA60577/AAA60994 and 7; AAA60569).	actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CCATCACAAGCGCTACACTCA	0.453000														70			36		0	0	1	0	0
PRDM1	639	broad.mit.edu	37	6	106554794	106554794	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:106554794C>T	uc003prd.2	+	6	2145	c.1911C>T	c.(1909-1911)caC>caT	p.H637H	PRDM1_uc003pre.3_Silent_p.H503H	NM_001198	NP_001189	O75626	PRDM1_HUMAN	Homo sapiens PR domain containing 1, with ZNF domain (PRDM1), transcript variant 1, mRNA.	637					negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		AGGTCTGCCACAAGAGATTTA	0.547000			"""D, N, Mis, F, S"""		DLBCL									78			9		0	0	1	0	0
GART	2618	broad.mit.edu	37	21	34900595	34900595	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:34900595G>A	uc002yrz.3	-	9	1255	c.944C>T	c.(943-945)tCc>tTc	p.S315F	GART_uc002yrx.3_Missense_Mutation_p.S315F|GART_uc010gmd.3_5'UTR|GART_uc002yry.3_Missense_Mutation_p.S315F|GART_uc002ysa.2_Missense_Mutation_p.S315F	NM_001136005	NP_001129478	P22102	PUR2_HUMAN	Homo sapiens phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase (GART), transcript variant 3, mRNA.	315	ATP-grasp.				'de novo' IMP biosynthetic process|purine base biosynthetic process	cytosol	ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding			NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1)	31					Pemetrexed(DB00642)	ATCTAAGGTGGACTGAATCAC	0.423000														43			23		0	0	1	0	0
TDRD7	23424	broad.mit.edu	37	9	100204072	100204072	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:100204072T>C	uc004axj.3	+	5	995	c.770T>C	c.(769-771)cTt>cCt	p.L257P	TDRD7_uc011lux.2_Missense_Mutation_p.L183P	NM_014290	NP_055105	Q8NHU6	TDRD7_HUMAN	Homo sapiens tudor domain containing 7 (TDRD7), mRNA.	257	Lotus/OST-HTH 2.				lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis	chromatoid body	mRNA binding			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Acute lymphoblastic leukemia(62;0.158)				ATATCTAAGCTTCCACATTTT	0.343000														52			33		0	0	1	0	0
KCNS2	3788	broad.mit.edu	37	8	99440410	99440410	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:99440410A>G	uc003yin.3	+	1	553	c.203A>G	c.(202-204)gAg>gGg	p.E68G	KCNS2_uc022azb.1_Missense_Mutation_p.E68G	NM_020697	NP_065748	Q9ULS6	KCNS2_HUMAN	Homo sapiens potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2 (KCNS2), mRNA.	68						voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.R67L(1)		autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			GTCCAGCGGGAGTTCTACTTC	0.607000														46			29		0	0	1	0	0
SLAMF1	6504	broad.mit.edu	37	1	160604616	160604616	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:160604616C>A	uc001fwl.4	-	2	833	c.487G>T	c.(487-489)Ggc>Tgc	p.G163C	SLAMF1_uc010pjk.2_Non-coding_Transcript|SLAMF1_uc010pjl.2_Non-coding_Transcript|SLAMF1_uc010pjm.2_Non-coding_Transcript	NM_003037	NP_003028	Q13291	SLAF1_HUMAN	Homo sapiens signaling lymphocytic activation molecule family member 1 (SLAMF1), mRNA.	163	Ig-like C2-type.				interspecies interaction between organisms|lymphocyte activation|positive regulation of cell proliferation	integral to membrane	antigen binding|transmembrane receptor activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(52;4.94e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			ACTGTGCAGCCCAGTATCAAG	0.567000														75			30		4.34311e-12	5.33645e-12	1	1	0
RPS6KA2	6196	broad.mit.edu	37	6	166836766	166836766	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:166836766G>A	uc003qvd.1	-	18	1909	c.1796C>T	c.(1795-1797)aCg>aTg	p.T599M	RPS6KA2_uc011ego.1_Missense_Mutation_p.T485M|RPS6KA2_uc010kkl.1_Missense_Mutation_p.T485M|RPS6KA2_uc003qvb.1_Missense_Mutation_p.T574M|RPS6KA2_uc003qvc.1_Missense_Mutation_p.T582M|RPS6KA2_uc010kkk.1_Missense_Mutation_p.T6M	NM_021135	NP_066958	Q15349	KS6A2_HUMAN	Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 2 (RPS6KA2), transcript variant 1, mRNA.	574	Protein kinase 2.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|axon guidance|innate immune response|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		GAAATTGGCCGTGTAGCAGGG	0.642000														28			13		0	0	1	0	0
ZNF669	79862	broad.mit.edu	37	1	247263863	247263863	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:247263863C>T	uc001ice.2	-	3	1381	c.1208G>A	c.(1207-1209)aGt>aAt	p.S403N	ZNF669_uc001icf.2_Missense_Mutation_p.S317N	NM_024804	NP_079080	Q96BR6	ZN669_HUMAN	Homo sapiens zinc finger protein 669 (ZNF669), transcript variant 1, mRNA.	403					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(4)|large_intestine(2)|lung(6)	17	all_cancers(71;4.09e-05)|all_epithelial(71;6.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0283)|all_lung(81;0.0488)|Lung NSC(105;0.053)		OV - Ovarian serous cystadenocarcinoma(106;0.00427)			GTGAAGGGAACTGAGGCGACT	0.438000														104			55		0	0	1	0	0
HFM1	164045	broad.mit.edu	37	1	91841220	91841220	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:91841220C>A	uc001doa.4	-	11	1559	c.1460G>T	c.(1459-1461)aGa>aTa	p.R487I	HFM1_uc010osu.2_Missense_Mutation_p.R166I|HFM1_uc010osv.1_Missense_Mutation_p.R171I	NM_001017975	NP_001017975	A2PYH4	HFM1_HUMAN	Homo sapiens HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae) (HFM1), mRNA.	487							ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		TTTCACTGGTCTATGGCTCTC	0.378000														85			107		7.13616e-70	9.52392e-70	1	1	0
ROCK2	9475	broad.mit.edu	37	2	11348503	11348503	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:11348503C>A	uc002rbd.1	-	18	2723	c.2274G>T	c.(2272-2274)gaG>gaT	p.E758D		NM_004850	NP_004841	O75116	ROCK2_HUMAN	Homo sapiens Rho-associated, coiled-coil containing protein kinase 2 (ROCK2), mRNA.	758	Interaction with PPP1R12A.				axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		AACATCTTTTCTCAGCTTCTA	0.343000														22			7		0.000157383	0.000170012	1	1	0
FEM1B	10116	broad.mit.edu	37	15	68583125	68583125	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:68583125C>A	uc002arg.3	+	1	2044	c.1429C>A	c.(1429-1431)Ctt>Att	p.L477I	FEM1B_uc002arh.3_Missense_Mutation_p.L397I	NM_015322	NP_056137	Q9UK73	FEM1B_HUMAN	Homo sapiens fem-1 homolog b (C. elegans) (FEM1B), mRNA.	477					apoptosis|induction of apoptosis|regulation of DNA damage checkpoint|regulation of ubiquitin-protein ligase activity	cytoplasm|nucleus	death receptor binding|ubiquitin-protein ligase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						CCTGATTCACCTTGATCCCAG	0.433000														109			14		3.45872e-05	3.81293e-05	1	1	0
CGREF1	10669	broad.mit.edu	37	2	27327221	27327221	+	Missense_Mutation	SNP	G	A	A	rs112618911	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:27327221G>A	uc010eyr.2	-	0	385	c.380C>T	c.(379-381)aCg>aTg	p.T127M	CGREF1_uc010ylf.2_Intron|CGREF1_uc021vez.1_Missense_Mutation_p.T5M|CGREF1_uc002riq.3_Missense_Mutation_p.T5M|CGREF1_uc021vfa.1_Missense_Mutation_p.T5M|CGREF1_uc010eys.2_Missense_Mutation_p.T5M|CGREF1_uc002rir.2_Missense_Mutation_p.T5M	NM_006569	NP_006560	Q99674	CGRE1_HUMAN	Homo sapiens cell growth regulator with EF-hand domain 1 (CGREF1), transcript variant 1, mRNA.	5	EF-hand 2.				cell adhesion|cell cycle arrest|negative regulation of cell proliferation|response to stress	extracellular region	calcium ion binding			kidney(1)|lung(4)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CACTGTCATCGTCAAAGGTAA	0.567000														9			10		0	0	1	0	0
DIS3L2	129563	broad.mit.edu	37	2	233199425	233199425	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:233199425C>T	uc010fxz.3	+	18	2650	c.2374C>T	c.(2374-2376)Cag>Tag	p.Q792*	DIS3L2_uc002vsm.4_Non-coding_Transcript|DIS3L2_uc002vso.3_Non-coding_Transcript	NM_152383	NP_689596	Q8IYB7	DI3L2_HUMAN	Homo sapiens DIS3 mitotic control homolog (S. cerevisiae)-like 2 (DIS3L2), mRNA.	792							RNA binding|exonuclease activity|ribonuclease activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		CTACGGCGTGCAGAAGCGCAT	0.657000														13			5		0	0	1	0	0
MSLNL	401827	broad.mit.edu	37	16	830489	830489	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:830489C>T	uc002cjz.1	-	2	512	c.512G>A	c.(511-513)cGc>cAc	p.R171H		NM_001025190	NP_001020361	Q96KJ4	MSLNL_HUMAN	Homo sapiens mesothelin-like (MSLNL), mRNA.	0					cell adhesion	integral to membrane		p.R171H(2)|p.R171S(1)		breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						TGGATGCGTGCGGGCACGCAT	0.552000														60			61		0	0	1	0	0
UBE2U	148581	broad.mit.edu	37	1	64671402	64671402	+	Splice_Site	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:64671402G>T	uc001dbn.1	+	2	392	c.148_splice	c.e2+1	p.G50_splice		NM_152489	NP_689702	Q5VVX9	UBE2U_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2U (putative) (UBE2U), mRNA.	50							ATP binding|protein binding|ubiquitin-protein ligase activity			large_intestine(3)|lung(2)|skin(1)	6						CAGTTTGGCAGGGTTTGTATT	0.313000														51			5		0.00116845	0.00123466	1	1	0
GABBR2	9568	broad.mit.edu	37	9	101068592	101068592	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:101068592G>A	uc004ays.3	-	14	2500	c.2040C>T	c.(2038-2040)aaC>aaT	p.N680N		NM_005458	NP_005449	O75899	GABR2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) B receptor, 2 (GABBR2), mRNA.	680					negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity		NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	GGATGCTGACGTTGCGGGTCT	0.547000														16			11		0	0	1	0	0
GPRASP1	9737	broad.mit.edu	37	X	101912339	101912339	+	Silent	SNP	T	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:101912339T>A	uc010nod.3	+	2	4140	c.3498T>A	c.(3496-3498)atT>atA	p.I1166I	ARMCX5-GPRASP2_uc022cay.1_Intron|GPRASP1_uc022cbc.1_Silent_p.I1166I|GPRASP1_uc004ejj.4_Silent_p.I1166I|GPRASP1_uc004eji.4_Silent_p.I1166I|GPRASP1_uc022cbd.1_Silent_p.I1166I	NM_001099411	NP_055525	Q5JY77	GASP1_HUMAN	Homo sapiens G protein-coupled receptor associated sorting protein 1 (GPRASP1), transcript variant 3, mRNA.	1166	OPRD1-binding.					cytoplasm	protein binding			NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TGGAAAAAATTCGGGATCCTT	0.373000														50			27		0	0	1	0	0
ZNF99	7652	broad.mit.edu	37	19	22940405	22940405	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:22940405G>T	uc021urt.1	-	3	2461	c.2306C>A	c.(2305-2307)gCt>gAt	p.A769D		NM_001080409	NP_001073878			Homo sapiens zinc finger protein 99 (ZNF99), mRNA.											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				ATGCTTAAAAGCTTTGCCACA	0.353000														17			10		5.50884e-06	6.15991e-06	1	1	0
NOL6	65083	broad.mit.edu	37	9	33468871	33468871	+	Splice_Site	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:33468871C>A	uc003zsz.3	-	8	1128	c.1027_splice	c.e8-1	p.G343_splice	NOL6_uc003zta.3_Splice_Site_p.G343_splice|NOL6_uc010mjv.3_Splice_Site_p.G343_splice|NOL6_uc011lob.2_Splice_Site_p.G283_splice|NOL6_uc003ztb.1_Splice_Site_p.G343_splice	NM_022917	NP_075068	Q9H6R4	NOL6_HUMAN	Homo sapiens nucleolar protein family 6 (RNA-associated) (NOL6), transcript variant alpha, mRNA.	343					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)		CACCCTGGCCCTGAAAGAGAC	0.592000														102			48		2.27781e-18	2.91874e-18	1	1	0
HCFC2	29915	broad.mit.edu	37	12	104490205	104490205	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:104490205G>A	uc001tkj.4	+	11	1837	c.1734G>A	c.(1732-1734)ccG>ccA	p.P578P	HCFC2_uc009zul.3_Non-coding_Transcript	NM_013320	NP_037452	Q9Y5Z7	HCFC2_HUMAN	Homo sapiens host cell factor C2 (HCFC2), mRNA.	578					regulation of transcription from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleus	transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						CAGCAACGCCGTTTTCTGTAA	0.343000														43			31		0	0	1	0	0
FOCAD	54914	broad.mit.edu	37	9	20929556	20929556	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:20929556T>C	uc003zog.1	+	28	3641	c.3278T>C	c.(3277-3279)tTa>tCa	p.L1093S	FOCAD_uc003zoh.1_Missense_Mutation_p.L529S	NM_017794	NP_060264	Q5VW36	K1797_HUMAN	Homo sapiens KIAA1797 (KIAA1797), mRNA.	1093						integral to membrane	binding										GGCCTTGCTTTAGGGATGTTT	0.428000														53			24		0	0	1	0	0
RNASE7	84659	broad.mit.edu	37	14	21511156	21511156	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:21511156C>T	uc021rou.1	+	0	5	c.5C>T	c.(4-6)gCa>gTa	p.A2V	NDRG2_uc010tll.2_Intron|RNASE7_uc001vzk.4_Missense_Mutation_p.A2V|RNASE7_uc001vzl.2_Non-coding_Transcript	NM_032572	NP_115961	Q9H1E1	RNAS7_HUMAN	Homo sapiens ribonuclease, RNase A family, 7 (RNASE7), mRNA.	2					defense response to bacterium|innate immune response	extracellular region	nucleic acid binding|pancreatic ribonuclease activity			endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	6	all_cancers(95;0.000759)		OV - Ovarian serous cystadenocarcinoma(11;3.42e-11)|Epithelial(56;5.57e-09)|all cancers(55;2.36e-08)	GBM - Glioblastoma multiforme(265;0.0191)		AGAGAGATGGCACCGGCCAGA	0.577000														11			9		0	0	1	0	0
DYNC2H1	79659	broad.mit.edu	37	11	103107184	103107184	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:103107184T>C	uc001phn.1	+	62	9879	c.9735T>C	c.(9733-9735)tgT>tgC	p.C3245C	DYNC2H1_uc009yxe.1_Intron|DYNC2H1_uc001pho.2_Silent_p.C3245C	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	Homo sapiens dynein, cytoplasmic 2, heavy chain 1 (DYNC2H1), transcript variant 2, mRNA.	3245	AAA 5 (By similarity).				Golgi organization|cell projection organization|microtubule-based movement|multicellular organismal development	Golgi apparatus|cilium axoneme|dynein complex|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		GATTTCTTTGTACTGAAAGTG	0.318000														50			24		0	0	1	0	0
BSCL2	26580	broad.mit.edu	37	11	62472962	62472962	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:62472962G>T	uc001nut.4	-	2	817	c.215C>A	c.(214-216)cCt>cAt	p.P72H	BSCL2_uc001nup.3_Missense_Mutation_p.P8H|BSCL2_uc009yoc.2_Missense_Mutation_p.P8H|BSCL2_uc001nur.4_Missense_Mutation_p.P72H|BSCL2_uc009yod.3_Missense_Mutation_p.P72H|HNRNPUL2_uc001nuu.2_Non-coding_Transcript|GNG3_uc001nuv.3_5'Flank	NM_001122955	NP_001116427	Q96G97	BSCL2_HUMAN	Homo sapiens Berardinelli-Seip congenital lipodystrophy 2 (seipin) (BSCL2), transcript variant 1, mRNA.	8					cell death	integral to endoplasmic reticulum membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	12						CAGTAAGGCAGGTACTGGAGG	0.647000														17			14		1.05317e-09	1.25904e-09	1	1	0
DYSF	8291	broad.mit.edu	37	2	71906211	71906211	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:71906211G>A	uc010fen.3	+	52	6050	c.5909G>A	c.(5908-5910)cGc>cAc	p.R1970H	DYSF_uc010fei.3_Missense_Mutation_p.R1948H|DYSF_uc010feh.3_Missense_Mutation_p.R1938H|DYSF_uc002sig.4_Missense_Mutation_p.R1917H|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Missense_Mutation_p.R1962H|DYSF_uc010fee.3_Missense_Mutation_p.R1952H|DYSF_uc010fef.3_Missense_Mutation_p.R1969H|DYSF_uc002sie.3_Missense_Mutation_p.R1931H|DYSF_uc010feo.3_Missense_Mutation_p.R1963H|DYSF_uc010fej.3_Missense_Mutation_p.R1939H|DYSF_uc010fel.3_Missense_Mutation_p.R1918H|DYSF_uc010fem.3_Missense_Mutation_p.R1953H|DYSF_uc002sif.3_Missense_Mutation_p.R1932H|DYSF_uc010fek.3_Missense_Mutation_p.R1949H|DYSF_uc010yqy.2_Missense_Mutation_p.R812H|DYSF_uc010yqz.2_Missense_Mutation_p.R692H	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.	1931			P -> S (in LGMD2B).			cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GATCTCAACCGCATGCCCAAG	0.547000														19			10		0	0	1	0	0
KIF1C	10749	broad.mit.edu	37	17	4907888	4907888	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:4907888G>A	uc002gan.2	+	11	1324	c.967G>A	c.(967-969)Gca>Aca	p.A323T		NM_006612	NP_006603	O43896	KIF1C_HUMAN	Homo sapiens kinesin family member 1C (KIF1C), mRNA.	323					microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER	Golgi apparatus|endoplasmic reticulum|microtubule	ATP binding|microtubule motor activity			NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3)	30						AGCCATGATTGCAGCCCTGAG	0.577000														65			32		0	0	1	0	0
DDX23	9416	broad.mit.edu	37	12	49239515	49239515	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:49239515C>A	uc001rsm.3	-	1	142	c.51G>T	c.(49-51)aaG>aaT	p.K17N		NM_004818	NP_004809	Q9BUQ8	DDX23_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 23 (DDX23), mRNA.	17						U5 snRNP|catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding			NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						TCCTTTCCTCCTTGGAAGGTG	0.507000														28			24		6.32553e-13	7.83728e-13	1	1	0
BAZ2A	11176	broad.mit.edu	37	12	56996556	56996556	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56996556C>T	uc001slq.1	-	18	3565	c.3371G>A	c.(3370-3372)cGc>cAc	p.R1124H	BAZ2A_uc001slp.1_Missense_Mutation_p.R1122H|BAZ2A_uc001slo.1_5'Flank|BAZ2A_uc009zov.1_Missense_Mutation_p.R94H|BAZ2A_uc009zow.1_Missense_Mutation_p.R1092H	NM_013449	NP_038477	Q9UIF9	BAZ2A_HUMAN	Homo sapiens bromodomain adjacent to zinc finger domain, 2A (BAZ2A), mRNA.	1124					DNA methylation|chromatin silencing at rDNA|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|RNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|zinc ion binding			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						TACCCAGTAGCGACGTCTGTA	0.517000														25			5		0	0	1	0	0
PM20D2	135293	broad.mit.edu	37	6	89859062	89859062	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:89859062C>A	uc003pmz.3	+	1	639	c.544C>A	c.(544-546)Ctt>Att	p.L182I		NM_001010853	NP_001010853	Q8IYS1	P20D2_HUMAN	Homo sapiens peptidase M20 domain containing 2 (PM20D2), mRNA.	182							hydrolase activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|skin(1)	12		all_cancers(76;9.47e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00813)		TTTTACAAATCTTGATGTTGT	0.403000														139			16		2.23348e-06	2.52156e-06	1	1	0
KIAA0564	23078	broad.mit.edu	37	13	42161672	42161672	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:42161672G>A	uc001uyj.3	-	41	5317	c.5247C>T	c.(5245-5247)ttC>ttT	p.F1749F		NM_015058	NP_055873	A3KMH1	K0564_HUMAN	Homo sapiens KIAA0564 (KIAA0564), transcript variant 1, mRNA.	1749	VWFA.					extracellular region	ATP binding|ATPase activity			endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(19)|lung(15)|ovary(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75		Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969)		CATAGTTCTCGAAGGCTTCCA	0.478000														35			20		0	0	1	0	0
PTCH1	5727	broad.mit.edu	37	9	98212155	98212155	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:98212155C>T	uc004avk.4	-	20	3705	c.3517G>A	c.(3517-3519)Gtg>Atg	p.V1173M	PTCH1_uc010mrn.3_5'UTR|PTCH1_uc010mro.3_Missense_Mutation_p.V1022M|PTCH1_uc010mrp.3_Missense_Mutation_p.V1022M|PTCH1_uc010mrq.3_Missense_Mutation_p.V1022M|PTCH1_uc004avl.4_Missense_Mutation_p.V1022M|PTCH1_uc004avm.4_Missense_Mutation_p.V1172M|PTCH1_uc010mrr.3_Missense_Mutation_p.V1107M	NM_000264	NP_001077076	Q13635	PTC1_HUMAN	Homo sapiens patched 1 (PTCH1), transcript variant 1b, mRNA.	1173					embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity	p.L1170_P1180>WT(2)		NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				GACAAAAGCACGGGAAGCAAA	0.542000														15			5		0	0	1	0	0
OR52B2	255725	broad.mit.edu	37	11	6190901	6190901	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6190901G>T	uc010qzy.2	-	0	656	c.656C>A	c.(655-657)tCt>tAt	p.S219Y		NM_001004052	NP_001004052	Q96RD2	O52B2_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily B, member 2 (OR52B2), mRNA.	219					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(15)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGTGAGTAAGACACAGCGAT	0.517000														21			18		6.94344e-10	8.32448e-10	1	1	0
SYNJ2	8871	broad.mit.edu	37	6	158454662	158454662	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:158454662C>T	uc003qqx.2	+	3	767	c.661C>T	c.(661-663)Cgt>Tgt	p.R221C	SYNJ2_uc011efm.2_Non-coding_Transcript|SYNJ2_uc003qqw.2_Missense_Mutation_p.R221C|SYNJ2_uc003qqy.2_5'UTR|SYNJ2_uc011efn.1_Missense_Mutation_p.R170C|SYNJ2_uc010kjo.1_Missense_Mutation_p.R170C	NM_003898	NP_001171559	O15056	SYNJ2_HUMAN	Homo sapiens synaptojanin 2 (SYNJ2), transcript variant 1, mRNA.	221	SAC.						RNA binding|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		CTTCCACACCCGTGGCGTGAA	0.627000														19			13		0	0	1	0	0
DOCK6	57572	broad.mit.edu	37	19	11332616	11332616	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:11332616T>C	uc002mqs.4	-	27	3502	c.3461A>G	c.(3460-3462)gAg>gGg	p.E1154G	DOCK6_uc010xlq.2_Missense_Mutation_p.E493G	NM_020812	NP_065863	Q96HP0	DOCK6_HUMAN	Homo sapiens dedicator of cytokinesis 6 (DOCK6), mRNA.	1154					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						CACAGTGGCCTCGGCGTAGCG	0.592000														73			10		0	0	1	0	0
LRRK1	79705	broad.mit.edu	37	15	101566188	101566188	+	Missense_Mutation	SNP	G	A	A	rs141579296	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:101566188G>A	uc002bwr.3	+	16	2570	c.2251G>A	c.(2251-2253)Gtg>Atg	p.V751M	LRRK1_uc010usb.2_Non-coding_Transcript|LRRK1_uc010usc.2_Non-coding_Transcript	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	Homo sapiens leucine-rich repeat kinase 1 (LRRK1), mRNA.	751	Roc.				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.W751C(1)		breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CCCAAACGCCGTGGTGCTGGT	0.587000														68			7		0	0	1	0	0
SMARCA5	8467	broad.mit.edu	37	4	144457707	144457707	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:144457707T>C	uc003ijg.3	+	10	1833	c.1371T>C	c.(1369-1371)tgT>tgC	p.C457C		NM_003601	NP_003592	O60264	SMCA5_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5 (SMARCA5), mRNA.	457					CenH3-containing nucleosome assembly at centromere|nucleosome positioning|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	NURF complex|RSF complex|condensed chromosome|nucleolus|nucleoplasm	ATP binding|ATPase activity|DNA binding|helicase activity|nucleosome binding|protein binding		EWSR1/SMARCA5(2)	endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(180;0.158)					GAAAATGTTGTAATCATCCAT	0.378000														59			5		0	0	1	0	0
SLC2A13	114134	broad.mit.edu	37	12	40258676	40258676	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:40258676C>T	uc010skm.2	-	5	1258	c.1207G>A	c.(1207-1209)Gta>Ata	p.V403I	C12orf40_uc009zjv.1_Intron|SLC2A13_uc001rme.1_Missense_Mutation_p.V50I	NM_052885	NP_443117	Q96QE2	MYCT_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 13 (SLC2A13), mRNA.	403						integral to membrane|plasma membrane	myo-inositol:hydrogen symporter activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	29		Lung NSC(34;0.105)|all_lung(34;0.123)				ATGAGTGCTACGGTGGTACCT	0.388000										HNSCC(50;0.14)				43			29		0	0	1	0	0
ILF3	3609	broad.mit.edu	37	19	10792710	10792710	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10792710C>T	uc002mpn.3	+	11	1539	c.1222C>T	c.(1222-1224)Cgg>Tgg	p.R408W	ILF3_uc010xli.1_Missense_Mutation_p.R6W|ILF3_uc002mpm.2_Missense_Mutation_p.R408W|ILF3_uc002mpl.2_Missense_Mutation_p.R408W|ILF3_uc002mpk.2_Missense_Mutation_p.R408W|ILF3_uc002mpo.3_Missense_Mutation_p.R408W|ILF3_uc002mpp.3_Missense_Mutation_p.R229W	NM_012218	NP_036350	Q12906	ILF3_HUMAN	Homo sapiens interleukin enhancer binding factor 3, 90kDa (ILF3), transcript variant 1, mRNA.	408	DRBM 1.				M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			TGCCCTGATGCGGTTGAACCA	0.582000														36			6		0	0	1	0	0
PCNXL3	399909	broad.mit.edu	37	11	65402798	65402798	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:65402798G>A	uc001oey.2	+	30	5063	c.5063G>A	c.(5062-5064)cGc>cAc	p.R1688H	PCNXL3_uc001oez.2_Missense_Mutation_p.R575H|MIR4690_uc021qln.1_5'Flank	NM_032223	NP_115599	Q9H6A9	PCX3_HUMAN	Homo sapiens pecanex-like 3 (Drosophila) (PCNXL3), mRNA.	1688						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						CCAGCATGGCGCAGCGCCATC	0.612000														3			3		0	0	1	0	0
SOX6	55553	broad.mit.edu	37	11	16007927	16007927	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:16007927G>T	uc001mme.3	-	14	2078	c.2045C>A	c.(2044-2046)cCt>cAt	p.P682H	SOX6_uc001mmd.3_Missense_Mutation_p.P645H|SOX6_uc001mmf.3_Missense_Mutation_p.P642H|SOX6_uc001mmg.3_Missense_Mutation_p.P649H	NM_001145819	NP_001139291	P35712	SOX6_HUMAN	Homo sapiens SRY (sex determining region Y)-box 6 (SOX6), transcript variant 4, mRNA.	669					muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						TTCATAATAAGGTTGCTTCTC	0.443000														57			43		3.70713e-34	4.90829e-34	1	1	0
APC2	10297	broad.mit.edu	37	19	1462051	1462051	+	Silent	SNP	C	T	T	rs148957868		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:1462051C>T	uc002lsr.1	+	13	1936	c.1728C>T	c.(1726-1728)ggC>ggT	p.G576G	APC2_uc002lss.1_Silent_p.G158G|APC2_uc002lst.1_Silent_p.G576G|APC2_uc002lsu.1_Silent_p.G575G|C19orf25_uc010xgn.1_Intron	NM_005883	NP_005874	O95996	APC2_HUMAN	Homo sapiens adenomatosis polyposis coli 2 (APC2), mRNA.	576					Wnt receptor signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus	Golgi membrane|actin filament|catenin complex|cytoplasmic microtubule|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding			breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGTGGATGGCGCCCTGGGCT	0.632000														23			16		0	0	1	0	0
PRR5-ARHGAP8	553158	broad.mit.edu	37	22	45110540	45110540	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:45110540C>T	uc003bfd.3	+	1	481	c.204C>T	c.(202-204)aaC>aaT	p.N68N	PRR5-ARHGAP8_uc003bew.2_Silent_p.N59N|PRR5-ARHGAP8_uc003bex.2_5'UTR|PRR5-ARHGAP8_uc010gzt.1_Silent_p.N91N|PRR5-ARHGAP8_uc003bey.1_Silent_p.N59N|PRR5-ARHGAP8_uc003bez.1_5'UTR|PRR5-ARHGAP8_uc011aqi.2_Silent_p.N59N|PRR5-ARHGAP8_uc003bfb.2_Silent_p.N68N	NM_181335	NP_851852			Homo sapiens Rho GTPase activating protein 8 (ARHGAP8), transcript variant 2, mRNA.											breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(10)|prostate(1)|skin(8)	30						TCAGCCTCAACGAGGGCGTCC	0.662000														43			22		0	0	1	0	0
PAK3	5063	broad.mit.edu	37	X	110391030	110391030	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:110391030G>T	uc010npv.1	+	4	477	c.450G>T	c.(448-450)aaG>aaT	p.K150N	PAK3_uc010npt.1_Missense_Mutation_p.K114N|PAK3_uc010npu.1_Missense_Mutation_p.K114N|PAK3_uc004eoy.1_5'UTR|PAK3_uc004eoz.2_Missense_Mutation_p.K114N|PAK3_uc011mst.1_Non-coding_Transcript|PAK3_uc010npw.1_Missense_Mutation_p.K135N|PAK3_uc004epa.2_Missense_Mutation_p.K129N	NM_001128168	NP_001121640	O75914	PAK3_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 3 (PAK3), transcript variant 4, mRNA.	129	Autoregulatory region (By similarity).|Linker.				multicellular organismal development		ATP binding|SH3 domain binding|metal ion binding|protein serine/threonine kinase activity			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						AACAGAAGAAGAACCCACAAG	0.408000										TSP Lung(19;0.15)				64			32		5.45727e-16	6.89772e-16	1	1	0
FRMPD1	22844	broad.mit.edu	37	9	37740152	37740152	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:37740152C>T	uc004aag.1	+	14	1671	c.1627C>T	c.(1627-1629)Cgc>Tgc	p.R543C	FRMPD1_uc004aah.1_Missense_Mutation_p.R543C|FRMPD1_uc011lqm.2_Missense_Mutation_p.R365C|FRMPD1_uc011lqn.2_Missense_Mutation_p.R412C	NM_014907	NP_055722	Q5SYB0	FRPD1_HUMAN	Homo sapiens FERM and PDZ domain containing 1 (FRMPD1), mRNA.	543						cytoskeleton|cytosol|plasma membrane				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		CTCTGACAGGCGCCTGGTGAA	0.597000														58			35		0	0	1	0	0
KDM4C	23081	broad.mit.edu	37	9	6990511	6990511	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:6990511G>T	uc003zkh.3	+	11	2353	c.1773G>T	c.(1771-1773)gcG>gcT	p.A591A	KDM4C_uc010mhu.2_Silent_p.A613A|KDM4C_uc011lmi.1_Silent_p.A591A|KDM4C_uc011lmj.1_Non-coding_Transcript|KDM4C_uc003zkg.3_Silent_p.A591A|KDM4C_uc011lmk.2_Intron|KDM4C_uc011lml.2_Silent_p.A278A	NM_015061	NP_055876	Q9H3R0	KDM4C_HUMAN	Homo sapiens lysine (K)-specific demethylase 4C (KDM4C), transcript variant 1, mRNA.	591					positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	nuclear chromatin	androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						AGCAGCAGGCGCCAAGTGATG	0.408000														15			16		1.15088e-07	1.32926e-07	1	1	0
KIAA1614	57710	broad.mit.edu	37	1	180910420	180910420	+	Splice_Site	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:180910420C>T	uc001gok.2	+	7	3226	c.3159_splice	c.e7+1	p.P1053_splice	KIAA1614_uc001gol.1_Splice_Site_p.P674_splice|KIAA1614_uc001gom.1_Splice_Site_p.P144_splice	NM_020950	NP_066001	Q5VZ46	K1614_HUMAN	Homo sapiens KIAA1614 (KIAA1614), mRNA.	1053	Ser-rich.									NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						TCCCTGCACCCGGTGAGTCCA	0.622000														31			6		0	0	1	0	0
ANAPC5	51433	broad.mit.edu	37	12	121783770	121783770	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:121783770C>T	uc001uag.3	-	3	584	c.462G>A	c.(460-462)ctG>ctA	p.L154L	ANAPC5_uc001uah.3_Silent_p.L55L	NM_016237	NP_057321	Q9UJX4	APC5_HUMAN	Homo sapiens anaphase promoting complex subunit 5 (ANAPC5), transcript variant 1, mRNA.	154					G2/M transition of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity			breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GGGCAGTGTACAGTTTAAACA	0.428000														144			18		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179436581	179436581	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179436581T>C	uc021vsy.1	-	274	66799	c.66574A>G	c.(66574-66576)Act>Gct	p.T22192A	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.T15887A|TTN_uc021vta.1_Missense_Mutation_p.T15820A|TTN_uc021vtb.1_Missense_Mutation_p.T15695A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	23119	Fibronectin type-III 61.						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)			TTTACTCTAGTTGTCTGCTTC	0.438000														82			46		0	0	1	0	0
UVRAG	7405	broad.mit.edu	37	11	75852240	75852240	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:75852240C>T	uc001oxc.3	+	14	2124	c.1883C>T	c.(1882-1884)aCt>aTt	p.T628I	UVRAG_uc010rrw.2_Missense_Mutation_p.T527I|UVRAG_uc001oxd.3_Missense_Mutation_p.T256I|UVRAG_uc010rrx.2_Missense_Mutation_p.T256I|UVRAG_uc010rry.2_Missense_Mutation_p.T184I	NM_003369	NP_003360	Q9P2Y5	UVRAG_HUMAN	Homo sapiens UV radiation resistance associated gene (UVRAG), mRNA.	628					DNA repair|positive regulation of autophagy	early endosome|late endosome|lysosome	protein binding			central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						CTCTGCTGTACTGTGGAGCAA	0.567000														25			24		0	0	1	0	0
GRIA3	2892	broad.mit.edu	37	X	122538588	122538588	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:122538588C>T	uc004etq.4	+	9	1615	c.1323C>T	c.(1321-1323)aaC>aaT	p.N441N	GRIA3_uc004etr.4_Silent_p.N441N|GRIA3_uc004ets.4_Non-coding_Transcript|GRIA3_uc011muf.1_Silent_p.N425N	NM_007325	NP_015564	P42263	GRIA3_HUMAN	Homo sapiens glutamate receptor, ionotrophic, AMPA 3 (GRIA3), transcript variant 1, mRNA.	441					glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	ACAAGAAGAACCATGAGCAAC	0.353000														56			28		0	0	1	0	0
ADAM33	80332	broad.mit.edu	37	20	3654742	3654742	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:3654742C>T	uc002wit.3	-	7	794	c.707G>A	c.(706-708)cGt>cAt	p.R236H	ADAM33_uc002wir.1_Missense_Mutation_p.R236H|ADAM33_uc002wis.3_5'Flank|ADAM33_uc002wiu.3_Missense_Mutation_p.R236H|ADAM33_uc002wiw.1_Non-coding_Transcript|ADAM33_uc010gba.1_Intron|ADAM33_uc010gbb.1_Intron|ADAM33_uc002wix.1_Missense_Mutation_p.R159H|ADAM33_uc010zqg.1_Missense_Mutation_p.R248H|ADAM33_uc010zqh.1_Missense_Mutation_p.R236H	NM_025220	NP_079496	Q9BZ11	ADA33_HUMAN	Homo sapiens ADAM metallopeptidase domain 33 (ADAM33), transcript variant 1, mRNA.	236	Peptidase M12B.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3)	29						TTCCAGGAGACGCTGTTTGGT	0.652000														71			8		0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64465654	64465654	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:64465654C>A	uc001xgl.3	+	26	3606	c.3376C>A	c.(3376-3378)Ctt>Att	p.L1126I	SYNE2_uc001xgm.3_Missense_Mutation_p.L1126I|SYNE2_uc021ruh.1_Missense_Mutation_p.L1126I	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	1126					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CAGAGATATTCTTGAACACCA	0.393000														62			40		5.75399e-11	6.99207e-11	1	1	0
CAPN13	92291	broad.mit.edu	37	2	30959398	30959398	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:30959398G>A	uc021vfn.1	-	16	1725	c.1693C>T	c.(1693-1695)Cga>Tga	p.R565*	CAPN13_uc002rnm.3_Non-coding_Transcript|CAPN13_uc021vfm.1_Nonsense_Mutation_p.R561*	NM_144575	NP_653176	Q6MZZ7	CAN13_HUMAN	Homo sapiens calpain 13 (CAPN13), mRNA.	565	EF-hand 1.				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)					TTCCACAGTCGCGCAAACTCC	0.537000														28			18		0	0	1	0	0
PPP1R26	9858	broad.mit.edu	37	9	138379302	138379302	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:138379302C>T	uc022bpi.1	+	0	2946	c.2946C>T	c.(2944-2946)agC>agT	p.S982S	PPP1R26_uc004cfr.1_Silent_p.S982S	NM_014811	NP_055626	Q5T8A7	K0649_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 26 (PPP1R26), mRNA.	982						nucleolus	protein binding										AGCTGCCCAGCTGTGCCACAG	0.637000														12			14		0	0	1	0	0
TANC2	26115	broad.mit.edu	37	17	61498030	61498030	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:61498030C>T	uc002jal.4	+	24	4710	c.4687C>T	c.(4687-4689)Cgc>Tgc	p.R1563C	TANC2_uc010wpe.2_3'UTR|TANC2_uc002jao.4_Missense_Mutation_p.R674C	NM_025185	NP_079461	Q9HCD6	TANC2_HUMAN	Homo sapiens tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 (TANC2), mRNA.	1563							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						TTCACCCGTGCGCTATCAGCA	0.577000														21			14		0	0	1	0	0
LZTS2	84445	broad.mit.edu	37	10	102763514	102763514	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:102763514C>A	uc001ksj.3	+	2	829	c.659C>A	c.(658-660)tCt>tAt	p.S220Y	LZTS2_uc010qpw.2_Missense_Mutation_p.S220Y|LZTS2_uc001ksk.3_Missense_Mutation_p.S220Y|LZTS2_uc001ksl.3_Missense_Mutation_p.S220Y|LZTS2_uc001ksm.3_Non-coding_Transcript	NM_032429	NP_115805	Q9BRK4	LZTS2_HUMAN	Homo sapiens leucine zipper, putative tumor suppressor 2 (LZTS2), mRNA.	220	Required for centrosomal localization (By similarity).|Ser-rich.				Wnt receptor signaling pathway|cell division|mitosis	membrane|microtubule|microtubule organizing center				breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22				Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)		CTATCCGACTCTGGCCGAAAC	0.647000														124			9		0.0477658	0.0485825	1	1	0
TLR10	81793	broad.mit.edu	37	4	38776289	38776289	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:38776289T>C	uc003gtj.3	-	3	1561	c.923A>G	c.(922-924)cAt>cGt	p.H308R	TLR10_uc021xnk.1_Missense_Mutation_p.H294R|TLR10_uc003gti.3_Missense_Mutation_p.H308R|TLR10_uc021xnl.1_Missense_Mutation_p.H308R|TLR10_uc003gtk.3_Missense_Mutation_p.H308R|TLR10_uc021xnm.1_Missense_Mutation_p.H308R	NM_030956	NP_001182037	Q9BXR5	TLR10_HUMAN	Homo sapiens toll-like receptor 10 (TLR10), transcript variant 1, mRNA.	308					MyD88-dependent toll-like receptor signaling pathway|inflammatory response|innate immune response	integral to membrane|plasma membrane	transmembrane receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						CACTCTGAAATGTACATGCTC	0.343000														82			6		0	0	1	0	0
PPP1R32	220004	broad.mit.edu	37	11	61252177	61252177	+	Silent	SNP	C	T	T	rs142294307		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:61252177C>T	uc001nru.2	+	4	531	c.399C>T	c.(397-399)ttC>ttT	p.F133F	PPP1R32_uc009ynq.2_Silent_p.F133F	NM_145017	NP_659454	Q7Z5V6	CK066_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 32 (PPP1R32), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	133																	AGGTCCATTTCGACACCCAGG	0.642000														9			9		0	0	1	0	0
SPATA20	64847	broad.mit.edu	37	17	48629436	48629436	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:48629436C>T	uc002ird.3	+	13	1993	c.1852C>T	c.(1852-1854)Cgg>Tgg	p.R618W	SPATA20_uc002irc.3_Missense_Mutation_p.R269W|SPATA20_uc002ire.3_Missense_Mutation_p.R558W|SPATA20_uc002irf.3_Missense_Mutation_p.R602W|SPATA20_uc002irg.3_Non-coding_Transcript	NM_022827	NP_073738	Q8TB22	SPT20_HUMAN	Homo sapiens spermatogenesis associated 20 (SPATA20), mRNA.	602					cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis	extracellular region	mannose-6-phosphate isomerase activity|protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)			GTGGGCTCTGCGGCTGCAGGA	0.652000														18			9		0	0	1	0	0
RUNX1T1	862	broad.mit.edu	37	8	92972475	92972475	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:92972475G>A	uc022axs.1	-	11	2174	c.1987C>T	c.(1987-1989)Cgc>Tgc	p.R663C	RUNX1T1_uc003yfc.2_Missense_Mutation_p.R577C|RUNX1T1_uc010mam.3_Missense_Mutation_p.R577C|RUNX1T1_uc003yfe.2_Missense_Mutation_p.R567C|RUNX1T1_uc003yfd.3_Missense_Mutation_p.R604C|RUNX1T1_uc022axo.1_Missense_Mutation_p.R604C|RUNX1T1_uc010mao.3_Missense_Mutation_p.R577C|RUNX1T1_uc011lgi.2_Missense_Mutation_p.R615C|RUNX1T1_uc022axp.1_Missense_Mutation_p.R604C|RUNX1T1_uc022axq.1_Missense_Mutation_p.R604C|RUNX1T1_uc022axr.1_Missense_Mutation_p.R604C|RUNX1T1_uc022axt.1_Missense_Mutation_p.R604C|RUNX1T1_uc022axu.1_Missense_Mutation_p.R584C|RUNX1T1_uc022axv.1_Missense_Mutation_p.R604C|RUNX1T1_uc010man.2_Missense_Mutation_p.R229C|RUNX1T1_uc003yfb.2_Missense_Mutation_p.R567C	NM_001198679	NP_001185608	Q06455	MTG8_HUMAN	Homo sapiens runt-related transcription factor 1; translocated to, 1 (cyclin D-related) (RUNX1T1), transcript variant 15, mRNA.	604					generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			CACGTCTAGCGAGGGGTTGTC	0.542000														8			6		0	0	1	0	0
UBIAD1	29914	broad.mit.edu	37	1	11333834	11333834	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:11333834G>A	uc001asg.3	+	0	580	c.246G>A	c.(244-246)agG>agA	p.R82R		NM_013319	NP_037451	Q9Y5Z9	UBIA1_HUMAN	Homo sapiens UbiA prenyltransferase domain containing 1 (UBIAD1), mRNA.	82					menaquinone biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrion|nucleus	prenyltransferase activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(3)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.012)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.52e-06)|COAD - Colon adenocarcinoma(227;0.000254)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0487)		TGGATCCCAGGCTCTTGGTGG	0.587000														115			12		0	0	1	0	0
KIAA2022	340533	broad.mit.edu	37	X	73959988	73959988	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:73959988C>A	uc004eby.3	-	2	5021	c.4404G>T	c.(4402-4404)gaG>gaT	p.E1468D		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	Homo sapiens KIAA2022 (KIAA2022), mRNA.	1468					DNA replication proofreading|DNA replication, removal of RNA primer|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity	p.E1468G(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						CCTGTTCTCGCTCCATGTGCT	0.473000														41			26		7.33532e-06	8.20065e-06	1	1	0
STAG3L2	442582	broad.mit.edu	37	7	74301237	74301237	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:74301237G>T	uc022afy.1	-	1	141	c.68C>A	c.(67-69)gCt>gAt	p.A23D	STAG3L2_uc011kfj.2_Intron|STAG3L2_uc022afz.1_Non-coding_Transcript			P0CL84	ST3L2_HUMAN	Homo sapiens stromal antigen 3-like 2 (STAG3L2), non-coding RNA.	23	SCD.					nucleus	binding			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|pancreas(1)	5						AATGCAGATAGCACGGATCTC	0.458000														346			21		1.38267e-23	1.80263e-23	1	1	0
CPEB4	80315	broad.mit.edu	37	5	173378897	173378897	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:173378897G>A	uc003mcs.4	+	7	3142	c.1736G>A	c.(1735-1737)cGa>cAa	p.R579Q	CPEB4_uc010jju.2_Missense_Mutation_p.R554Q|CPEB4_uc010jjv.3_Missense_Mutation_p.R562Q|CPEB4_uc011dfg.2_Missense_Mutation_p.R554Q|CPEB4_uc003mcu.4_Missense_Mutation_p.R172Q|CPEB4_uc021yhy.1_Missense_Mutation_p.R145Q	NM_030627	NP_085130	Q17RY0	CPEB4_HUMAN	Homo sapiens cytoplasmic polyadenylation element binding protein 4 (CPEB4), mRNA.	579							RNA binding|nucleotide binding			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			CTTGACCCACGAAAAACTATA	0.428000														25			11		0	0	1	0	0
VARS2	57176	broad.mit.edu	37	6	30889947	30889947	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:30889947C>A	uc011dmz.2	+	19	2032	c.1951C>A	c.(1951-1953)Ctt>Att	p.L651I	VARS2_uc003nsc.2_Missense_Mutation_p.L621I|VARS2_uc011dmx.2_Missense_Mutation_p.L621I|VARS2_uc011dmy.2_Missense_Mutation_p.L481I|VARS2_uc011dna.2_Missense_Mutation_p.L619I|VARS2_uc011dnb.2_Non-coding_Transcript|VARS2_uc011dnc.2_Non-coding_Transcript|VARS2_uc011dnd.2_Missense_Mutation_p.P36H|VARS2_uc010jsg.2_5'UTR|VARS2_uc010jsh.2_5'Flank	NM_001167734	NP_001161205	Q5ST30	SYVM_HUMAN	Homo sapiens valyl-tRNA synthetase 2, mitochondrial (putative) (VARS2), transcript variant 1, mRNA.	621					valyl-tRNA aminoacylation	mitochondrion	ATP binding|valine-tRNA ligase activity			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						GGGCAGCGACCTTCTGCTGTT	0.622000														126			17		2.35188e-11	2.87337e-11	1	1	0
NUP188	23511	broad.mit.edu	37	9	131703819	131703819	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:131703819G>A	uc004bwo.2	+	11	1732	c.799G>A	c.(799-801)Gcc>Acc	p.A267T	NUP188_uc004bwn.2_Silent_p.R259R|NUP188_uc004bwm.2_Non-coding_Transcript|NUP188_uc004bwp.2_Missense_Mutation_p.A246T|NUP188_uc004bwq.1_Missense_Mutation_p.A3T	NM_001100876	NP_001094346	Q5SRE5	NU188_HUMAN	Homo sapiens phytanoyl-CoA dioxygenase domain containing 1 (PHYHD1), transcript variant 1, mRNA.	0					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						CCTCATGGAGGCCTCTGGCAC	0.627000														89			7		0	0	1	0	0
ZNF777	27153	broad.mit.edu	37	7	149129626	149129626	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:149129626G>A	uc003wfv.3	-	5	1900	c.1737C>T	c.(1735-1737)tgC>tgT	p.C579C		NM_015694	NP_056509	Q9ULD5	ZN777_HUMAN	Homo sapiens zinc finger protein 777 (ZNF777), mRNA.	579					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			AGCTGATCTCGCATTCGGCGC	0.627000														25			21		0	0	1	0	0
KCNH5	27133	broad.mit.edu	37	14	63269221	63269221	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:63269221C>T	uc001xfx.3	-	8	1699	c.1648G>A	c.(1648-1650)Gct>Act	p.A550T	KCNH5_uc001xfy.3_Missense_Mutation_p.A550T|KCNH5_uc001xfz.1_Missense_Mutation_p.A492T	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 5 (KCNH5), transcript variant 1, mRNA.	550					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		AATCGAAAAGCAGGATGTTCA	0.493000														24			24		0	0	1	0	0
PIGG	54872	broad.mit.edu	37	4	515627	515627	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:515627C>T	uc003gak.4	+	7	1647	c.1511C>T	c.(1510-1512)tCg>tTg	p.S504L	PIGG_uc003gaj.4_Missense_Mutation_p.S496L|PIGG_uc011bux.2_Non-coding_Transcript|PIGG_uc010ibf.3_Missense_Mutation_p.S371L|PIGG_uc003gal.4_Missense_Mutation_p.S415L|PIGG_uc011buw.2_3'UTR|PIGG_uc003gam.3_3'UTR|PIGG_uc003gan.3_Missense_Mutation_p.S415L	NM_001127178	NP_001120650	Q5H8A4	PIGG_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class G (PIGG), transcript variant 1, mRNA.	504					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	CP2 mannose-ethanolamine phosphotransferase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						TGTGGCCTCTCGTGGCTGGCG	0.562000														43			5		0	0	1	0	0
MLLT6	4302	broad.mit.edu	37	17	36873734	36873734	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:36873734G>A	uc002hqi.4	+	10	1714	c.1701G>A	c.(1699-1701)ctG>ctA	p.L567L	MLLT6_uc002hqj.3_Silent_p.L2L|MLLT6_uc002hqk.4_5'Flank|MIR4726_uc021twg.1_5'Flank	NM_005937	NP_005928	P55198	AF17_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6 (MLLT6), mRNA.	567					regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding			breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(7;4.43e-21)					GCGGGATGCTGCGGGCTGTCT	0.662000			T	MLL	AL									37			23		0	0	1	0	0
SLC12A4	6560	broad.mit.edu	37	16	67983747	67983747	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:67983747G>A	uc010vkj.1	-	11	1750	c.1710C>T	c.(1708-1710)ggC>ggT	p.G570G	SLC12A4_uc010ceu.2_Silent_p.G562G|SLC12A4_uc010vkh.1_Silent_p.G537G|SLC12A4_uc002euz.2_Silent_p.G568G|SLC12A4_uc010vki.1_Silent_p.G568G|SLC12A4_uc002eva.2_Silent_p.G568G|SLC12A4_uc010cev.1_5'Flank|SLC12A4_uc002evb.2_Non-coding_Transcript	NM_001145962	NP_001139434	Q9UP95	S12A4_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 4 (SLC12A4), transcript variant 3, mRNA.	568					cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	CGATGAGGATGCCCAGCTCGG	0.632000														20			4		0	0	1	0	0
MTHFR	4524	broad.mit.edu	37	1	11863020	11863020	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:11863020G>A	uc001atb.1	-	0	421	c.223C>T	c.(223-225)Cga>Tga	p.R75*	MTHFR_uc001atc.2_Nonsense_Mutation_p.R52*|MTHFR_uc001atd.1_Non-coding_Transcript|MTHFR_uc009vnd.1_Non-coding_Transcript	NM_005957	NP_005948	P42898	MTHR_HUMAN	Homo sapiens methylenetetrahydrofolate reductase (NAD(P)H) (MTHFR), mRNA.	52					blood circulation|folic acid metabolic process	cytosol	methylenetetrahydrofolate reductase (NADPH) activity|protein binding	p.V74L(1)		NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|Raltitrexed(DB00293)|Riboflavin(DB00140)|S-Adenosylmethionine(DB00118)|Tetrahydrofolic acid(DB00116)	GATTCCAATCGCCGCCTCATC	0.552000														21			9		0	0	1	0	0
FNDC5	252995	broad.mit.edu	37	1	33333375	33333375	+	Missense_Mutation	SNP	C	T	T	rs138930492	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:33333375C>T	uc001bwg.3	-	3	468	c.253G>A	c.(253-255)Gtg>Atg	p.V85M	FNDC5_uc001bwe.3_5'Flank|FNDC5_uc021okv.1_Missense_Mutation_p.V85M|FNDC5_uc001bwf.2_Missense_Mutation_p.V85M	NM_001171941	NP_001165412	Q8NAU1	FNDC5_HUMAN	Homo sapiens fibronectin type III domain containing 5 (FNDC5), transcript variant 1, mRNA.	144	Fibronectin type-III.					integral to membrane|peroxisomal membrane				breast(1)|large_intestine(1)|lung(2)|ovary(1)	5		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				AACAGGACCACGACGATGATC	0.552000														18			6		0	0	1	0	0
PI4KA	5297	broad.mit.edu	37	22	21075617	21075617	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:21075617A>C	uc002zsz.4	-	42	5172	c.4911T>G	c.(4909-4911)atT>atG	p.I1637M	PI4KA_uc002zsy.4_Missense_Mutation_p.I447M	NM_058004	NP_477352	P42356	PI4KA_HUMAN	Homo sapiens phosphatidylinositol 4-kinase, catalytic, alpha (PI4KA), transcript variant 1, mRNA.	1637					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			CATCTAGATAAATGTTAGTCT	0.502000														57			36		0	0	1	0	0
PIK3C3	5289	broad.mit.edu	37	18	39607487	39607487	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:39607487G>T	uc002lap.3	+	13	1623	c.1565G>T	c.(1564-1566)aGa>aTa	p.R522I	PIK3C3_uc010xcl.2_Missense_Mutation_p.R459I|PIK3C3_uc002laq.3_Missense_Mutation_p.R7I	NM_002647	NP_002638	Q8NEB9	PK3C3_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 3 (PIK3C3), mRNA.	522					cell cycle|cytokinesis|fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	midbody|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|protein binding			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1)	49						AACGTAATGAGAAGATTCAGC	0.423000										TSP Lung(28;0.18)				55			7		0.27861	0.27975	1	1	0
OR11H12	440153	broad.mit.edu	37	14	19378537	19378537	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:19378537C>T	uc010tkp.2	+	0	944	c.944C>T	c.(943-945)gCc>gTc	p.A315V		NM_001013354	NP_001013372	B2RN74	O11HC_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily H, member 12 (OR11H12), mRNA.	315					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATAAAGGCAGCCCTGAGGAAA	0.393000														69			36		0	0	1	0	0
GJA8	2703	broad.mit.edu	37	1	147380253	147380253	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:147380253G>A	uc021ovm.1	+	0	171	c.171G>A	c.(169-171)caG>caA	p.Q57Q	GJA8_uc001epu.2_Silent_p.Q57Q	NM_005267	NP_005258	P48165	CXA8_HUMAN	Homo sapiens gap junction protein, alpha 8, 50kDa (GJA8), mRNA.	57					cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					GCAACACCCAGCAGCCTGGCT	0.597000														29			30		0	0	1	0	0
PCDHB16	57717	broad.mit.edu	37	5	140562776	140562776	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140562776G>A	uc003liv.3	+	0	1797	c.642G>A	c.(640-642)gcG>gcA	p.A214A		NM_020957	NP_066008	Q9NRJ7	PCDBG_HUMAN	Homo sapiens protocadherin beta 16 (PCDHB16), mRNA.	214	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCTGACAGCGCTGGATGGTG	0.502000														38			24		0	0	1	0	0
OTOGL	283310	broad.mit.edu	37	12	80623083	80623083	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:80623083G>A	uc001szd.3	+	6	515	c.509G>A	c.(508-510)cGg>cAg	p.R170Q		NM_173591	NP_775862			Homo sapiens otogelin-like (OTOGL), mRNA.											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						TCTTGTTATCGGTCAATCAGC	0.348000														60			46		0	0	1	0	0
DDX4	54514	broad.mit.edu	37	5	55086459	55086459	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:55086459C>T	uc003jqg.4	+	15	1327	c.1228C>T	c.(1228-1230)Cga>Tga	p.R410*	DDX4_uc010ivz.3_Nonsense_Mutation_p.R390*|DDX4_uc003jqh.4_Nonsense_Mutation_p.R376*|DDX4_uc003jqj.3_Nonsense_Mutation_p.R261*	NM_024415	NP_077726	Q9NQI0	DDX4_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 4 (DDX4), transcript variant 1, mRNA.	410	Helicase ATP-binding.				multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				ACATTCAATTCGACAAATAGT	0.343000														92			60		0	0	1	0	0
TAF4B	6875	broad.mit.edu	37	18	23847570	23847570	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:23847570A>G	uc002kvt.4	+	2	1069	c.580A>G	c.(580-582)Aag>Gag	p.K194E	TAF4B_uc002kvu.4_Missense_Mutation_p.K194E|TAF4B_uc002kvs.4_Non-coding_Transcript	NM_005640	NP_005631	Q92750	TAF4B_HUMAN	Homo sapiens TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa (TAF4B), mRNA.	194					transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleolus|transcription factor TFIID complex	DNA binding|NF-kappaB binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|prostate(1)|skin(1)	29	all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124)		Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267)			CACTGTTCCGAAGCCTTCCTC	0.393000														45			28		0	0	1	0	0
DSCAML1	57453	broad.mit.edu	37	11	117667814	117667814	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:117667814C>T	uc001prh.1	-	0	163	c.161G>A	c.(160-162)aGa>aAa	p.R54K	DSCAML1_uc001pri.1_Intron	NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Homo sapiens Down syndrome cell adhesion molecule like 1 (DSCAML1), mRNA.	0	Ig-like C2-type 1.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		AGGCCCTATTCTCCGGGGAGG	0.692000														6			8		0	0	1	0	0
SPG7	6687	broad.mit.edu	37	16	89579416	89579416	+	Missense_Mutation	SNP	C	T	T	rs149474131		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:89579416C>T	uc002fnj.3	+	2	368	c.347C>T	c.(346-348)tCg>tTg	p.S116L	SPG7_uc002fni.3_Missense_Mutation_p.S116L	NM_003119	NP_003110	Q9UQ90	SPG7_HUMAN	Homo sapiens spastic paraplegia 7 (pure and complicated autosomal recessive) (SPG7), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	116					cell death|nervous system development|protein catabolic process|proteolysis	integral to membrane|mitochondrial membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		aaggataagtcgaaggggaag	0.393000														30			8		0	0	1	0	0
EIF3A	8661	broad.mit.edu	37	10	120802156	120802156	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:120802156C>T	uc001ldu.3	-	18	3022	c.2876G>A	c.(2875-2877)cGg>cAg	p.R959Q	EIF3A_uc010qsu.2_Missense_Mutation_p.R925Q|EIF3A_uc009xzg.1_5'UTR	NM_003750	NP_003741	Q14152	EIF3A_HUMAN	Homo sapiens eukaryotic translation initiation factor 3, subunit A (EIF3A), mRNA.	959	25 X 10 AA approximate tandem repeats of [DE]-[DE]-[DE]-R-[SEVGFPILV]-[HPSN]- [RSW]-[RL]-[DRGTIHN]-[EPMANLGDT].|Asp-rich.				formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity			endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		CATGCCACGCCGGGGAACCCG	0.582000														76			58		0	0	1	0	0
C5orf48	389320	broad.mit.edu	37	5	125967491	125967491	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:125967491G>T	uc003kub.1	+	0	78	c.65G>T	c.(64-66)aGt>aTt	p.S22I		NM_207408	NP_997291	Q6ZNM6	CE048_HUMAN	Homo sapiens chromosome 5 open reading frame 48 (C5orf48), mRNA.	22										large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	7						TCTGATGAGAGTCTCTATAAA	0.393000														51			21		3.51602e-12	4.32762e-12	1	1	0
CPEB3	22849	broad.mit.edu	37	10	93940768	93940768	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:93940768C>T	uc001khw.2	-	3	1378	c.1174G>A	c.(1174-1176)Ggg>Agg	p.G392R	CPEB3_uc001khu.2_Missense_Mutation_p.G392R|CPEB3_uc001khv.2_Missense_Mutation_p.G369R|CPEB3_uc010qnn.2_Missense_Mutation_p.G369R	NM_014912	NP_055727	Q8NE35	CPEB3_HUMAN	Homo sapiens cytoplasmic polyadenylation element binding protein 3 (CPEB3), transcript variant 1, mRNA.	392							RNA binding|nucleotide binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0869)				AAATTTATCCCCATGCGTCCt	0.259000														55			10		0	0	1	0	0
AKAP12	9590	broad.mit.edu	37	6	151674767	151674767	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:151674767G>A	uc011eep.2	+	3	5481	c.5241G>A	c.(5239-5241)caG>caA	p.Q1747Q	AKAP12_uc003qoe.3_Silent_p.Q1747Q|AKAP12_uc003qof.3_Silent_p.Q1649Q|AKAP12_uc010kim.3_Intron|AKAP12_uc003qog.3_Silent_p.Q1642Q	NM_005100	NP_005091	Q02952	AKA12_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 12 (AKAP12), transcript variant 1, mRNA.	1747					G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		TAGAATTGCAGGAAGGAAAAG	0.453000														32			3		0	0	1	0	0
PHC3	80012	broad.mit.edu	37	3	169863241	169863241	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:169863241C>T	uc003fgl.2	-	5	676	c.642G>A	c.(640-642)tcG>tcA	p.S214S	PHC3_uc010hws.1_Silent_p.S202S|PHC3_uc011bpq.1_Silent_p.S161S|PHC3_uc011bpr.1_Intron|PHC3_uc003fgm.2_Silent_p.S214S	NM_024947	NP_079223	Q8NDX5	PHC3_HUMAN	Homo sapiens polyhomeotic homolog 3 (Drosophila) (PHC3), mRNA.	202	Ser-rich.				multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			AGGAAGATGACGATGACGACG	0.438000														19			10		0	0	1	0	0
BAI2	576	broad.mit.edu	37	1	32203081	32203081	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:32203081G>A	uc001btn.3	-	19	3282	c.2928C>T	c.(2926-2928)atC>atT	p.I976I	BAI2_uc010ogn.2_5'Flank|BAI2_uc010ogo.2_Silent_p.I618I|BAI2_uc010ogp.2_Silent_p.I909I|BAI2_uc010ogq.2_Silent_p.I976I|BAI2_uc001bto.3_Silent_p.I976I|BAI2_uc001btp.1_5'Flank	NM_001703	NP_001694	O60241	BAI2_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 2 (BAI2), mRNA.	976					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		TGGATGCCAAGATGGACAGGC	0.617000														37			19		0	0	1	0	0
NRM	11270	broad.mit.edu	37	6	30656463	30656463	+	Missense_Mutation	SNP	C	T	T	rs139617550		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:30656463C>T	uc003nrc.3	-	3	1071	c.764G>A	c.(763-765)cGg>cAg	p.R255Q	PPP1R18_uc003nra.3_5'Flank|PPP1R18_uc003nrb.4_5'Flank|NRM_uc003nre.3_Missense_Mutation_p.R143Q	NM_007243	NP_009174	Q8IXM6	NRM_HUMAN	Homo sapiens nurim (nuclear envelope membrane protein) (NRM), mRNA.	255						integral to membrane|nuclear inner membrane				large_intestine(1)|lung(2)	3						ATCCTGGGGCCGAGAGAGCAG	0.572000														31			18		0	0	1	0	0
GMIP	51291	broad.mit.edu	37	19	19746001	19746001	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:19746001G>A	uc002nnd.3	-	15	1699	c.1582C>T	c.(1582-1584)Cgc>Tgc	p.R528C	GMIP_uc010xrb.2_Missense_Mutation_p.R502C|GMIP_uc010xrc.2_Missense_Mutation_p.R499C	NM_016573	NP_057657	Q9P107	GMIP_HUMAN	Homo sapiens GEM interacting protein (GMIP), mRNA.	528					negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity|metal ion binding|protein binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						TCCAGGCAGCGCTTGTGGCAG	0.582000														9			8		0	0	1	0	0
SRGAP3	9901	broad.mit.edu	37	3	9097991	9097991	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:9097991C>T	uc003brf.1	-	7	1727	c.1051G>A	c.(1051-1053)Gtc>Atc	p.V351I	SRGAP3_uc003brg.1_Missense_Mutation_p.V351I|SRGAP3_uc003bri.1_Non-coding_Transcript|SRGAP3_uc003brj.1_Missense_Mutation_p.V211I	NM_014850	NP_055665	O43295	SRGP2_HUMAN	Homo sapiens SLIT-ROBO Rho GTPase activating protein 3 (SRGAP3), transcript variant 1, mRNA.	351					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		TCTGTCTGGACGGGCTGCTGA	0.587000			T	RAF1	pilocytic astrocytoma									40			19		0	0	1	0	0
FCGR3A	2214	broad.mit.edu	37	1	161518450	161518450	+	Missense_Mutation	SNP	A	G	G	rs11804152		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:161518450A>G	uc001gar.3	-	2	372	c.188T>C	c.(187-189)gTg>gCg	p.V63A	FCGR3A_uc001gas.3_Missense_Mutation_p.V62A|FCGR3A_uc001gat.4_Missense_Mutation_p.V27A|FCGR3A_uc009wuh.3_Missense_Mutation_p.V26A|FCGR3A_uc009wui.3_Missense_Mutation_p.V27A	NM_000569	NP_001121067	P08637	FCG3A_HUMAN	Homo sapiens Fc fragment of IgG, low affinity IIIa, receptor (CD16a) (FCGR3A), transcript variant 1, mRNA.	27	Ig-like C2-type 1.				immune response|regulation of immune response	extracellular region|integral to membrane|plasma membrane	IgG binding|receptor activity	p.V63M(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CAGGAACACCACAGCCTTTGG	0.567000														73			5		0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76487568	76487568	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:76487568G>T	uc010dhp.2	-	42	6751	c.6626C>A	c.(6625-6627)cCc>cAc	p.P2209H		NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GATCCACATGGGGTCTATGTC	0.607000														13			8		0.000157383	0.000170012	1	1	0
AIP	9049	broad.mit.edu	37	11	67254613	67254613	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:67254613C>T	uc001olv.3	+	1	361	c.236C>T	c.(235-237)aCc>aTc	p.T79I		NM_003977	NP_003968	O00170	AIP_HUMAN	Homo sapiens aryl hydrocarbon receptor interacting protein (AIP), mRNA.	79	PPIase FKBP-type.				protein maturation by protein folding|protein targeting to mitochondrion	nucleus	signal transducer activity|transcription coactivator activity|transcription factor binding|unfolded protein binding			central_nervous_system(1)|large_intestine(1)|lung(3)|skin(2)	7						ATCGTGTGCACCATGCGAGAA	0.587000									Familial Isolated Pituitary Adenoma					71			42		0	0	1	0	0
C7orf29	113763	broad.mit.edu	37	7	150027713	150027713	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:150027713G>A	uc003wgy.3	+	0	776	c.220G>A	c.(220-222)Gcc>Acc	p.A74T	LRRC61_uc003wgv.3_Intron|LRRC61_uc003wgx.3_Intron|LRRC61_uc003wgw.3_Intron	NM_138434	NP_612443	Q96FA7	CG029_HUMAN	Homo sapiens chromosome 7 open reading frame 29 (C7orf29), mRNA.	74										endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)	9			OV - Ovarian serous cystadenocarcinoma(82;0.011)			GTTTGTGCTGGCCACCTTGCT	0.612000														98			44		0	0	1	0	0
ZNF615	284370	broad.mit.edu	37	19	52497112	52497112	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:52497112C>T	uc002pyf.2	-	6	1567	c.1250G>A	c.(1249-1251)gGa>gAa	p.G417E	AK128361_uc021uys.1_5'Flank|ZNF615_uc002pye.2_Missense_Mutation_p.G406E|ZNF615_uc002pyh.2_Missense_Mutation_p.G417E|ZNF615_uc010epi.2_Missense_Mutation_p.G413E|ZNF615_uc002pyg.2_Missense_Mutation_p.G298E|ZNF615_uc010ydg.2_Missense_Mutation_p.G411E	NM_001199324	NP_001186253	Q8N8J6	ZN615_HUMAN	Homo sapiens zinc finger protein 615 (ZNF615), transcript variant 1, mRNA.	406					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.V417L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		AAAGCCTTTTCCACATTCACT	0.388000														61			5		0	0	1	0	0
CHRNG	1146	broad.mit.edu	37	2	233408362	233408362	+	Missense_Mutation	SNP	T	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:233408362T>A	uc002vsx.1	+	8	1009	c.988T>A	c.(988-990)Tcc>Acc	p.S330T	CHRNG_uc010fye.1_Missense_Mutation_p.S278T	NM_005199	NP_005190	P07510	ACHG_HUMAN	Homo sapiens cholinergic receptor, nicotinic, gamma (CHRNG), mRNA.	330					muscle contraction	cell junction|postsynaptic membrane	acetylcholine receptor activity			breast(2)|endometrium(3)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086)		GCTCAATGTCTCCTTGCGGTC	0.622000														21			14		0	0	1	0	0
CCDC102B	79839	broad.mit.edu	37	18	66721309	66721309	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:66721309C>A	uc002lkk.2	+	9	1700	c.1477C>A	c.(1477-1479)Ctg>Atg	p.L493M	CCDC102B_uc002lki.2_Missense_Mutation_p.L493M	NM_001093729	NP_079057	Q68D86	C102B_HUMAN	Homo sapiens coiled-coil domain containing 102B (CCDC102B), transcript variant 1, mRNA.	493										breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				CCAGAGGTCTCTGGATGAAGA	0.373000														42			35		4.0492e-12	4.98173e-12	1	1	0
ZNFX1	57169	broad.mit.edu	37	20	47865567	47865567	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:47865567G>A	uc002xui.3	-	13	4241	c.3994C>T	c.(3994-3996)Cgg>Tgg	p.R1332W		NM_021035	NP_066363	Q9P2E3	ZNFX1_HUMAN	Homo sapiens zinc finger, NFX1-type containing 1 (ZNFX1), mRNA.	1332							metal ion binding			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			AGGGGACACCGGTGCCCTTCC	0.552000														45			44		0	0	1	0	0
ZNF37A	7587	broad.mit.edu	37	10	38406524	38406524	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:38406524A>G	uc001izk.3	+	7	1275	c.445A>G	c.(445-447)Aat>Gat	p.N149D	ZNF37A_uc001izl.3_Missense_Mutation_p.N149D|ZNF37A_uc001izm.3_Missense_Mutation_p.N149D	NM_001007094	NP_003412	P17032	ZN37A_HUMAN	Homo sapiens zinc finger protein 37A (ZNF37A), transcript variant 1, mRNA.	149						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1)	28						TTTTGAATACAATGAATGTGG	0.368000														45			32		0	0	1	0	0
CLTCL1	8218	broad.mit.edu	37	22	19213861	19213861	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:19213861G>T	uc021wle.1	-	11	1903	c.1828C>A	c.(1828-1830)Cgg>Agg	p.R610R	CLTCL1_uc021wld.1_Silent_p.R610R|CLTCL1_uc021wlc.1_Silent_p.R610R|CLTCL1_uc021wlf.1_Silent_p.R610R|CLTCL1_uc011agw.1_Silent_p.R610R	NM_007098	NP_009029	P53675	CLH2_HUMAN	Homo sapiens clathrin, heavy chain-like 1 (CLTCL1), transcript variant 1, mRNA.	610	Distal segment.|Heavy chain arm.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					ATGTGGGCCCGGTCGTAATGA	0.502000			T	?	ALCL									29			20		1.22574e-08	1.44238e-08	1	1	0
LTBP1	4052	broad.mit.edu	37	2	33468843	33468843	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:33468843G>T	uc021vft.1	+	9	2014	c.1991G>T	c.(1990-1992)aGt>aTt	p.S664I	LTBP1_uc002rou.3_Missense_Mutation_p.S338I|LTBP1_uc002rov.3_Missense_Mutation_p.S338I|LTBP1_uc010ymz.2_Missense_Mutation_p.S338I|LTBP1_uc010yna.2_Missense_Mutation_p.S338I	NM_206943	NP_996826	Q14766	LTBP1_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 1 (LTBP1), transcript variant 1, mRNA.	664					negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				ACCTTTTCAAGTTGTGTTCGT	0.408000														77			7		0.00198382	0.00208369	1	1	0
FAN1	22909	broad.mit.edu	37	15	31217455	31217455	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:31217455C>A	uc001zff.3	+	8	2589	c.2298C>A	c.(2296-2298)ttC>ttA	p.F766L	FAN1_uc001zfe.3_Missense_Mutation_p.F371L	NM_014967	NP_055782	Q9Y2M0	FAN1_HUMAN	Homo sapiens FANCD2/FANCI-associated nuclease 1 (FAN1), transcript variant 1, mRNA.	766					double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision	nucleus	5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding			autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						AGCACCTCTTCCAGCAGCTCC	0.547000								Direct reversal of damage						20			18		1.96292e-10	2.36921e-10	1	1	0
SCAMP4	113178	broad.mit.edu	37	19	1918987	1918987	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:1918987G>A	uc002luj.3	+	4	500	c.393G>A	c.(391-393)gcG>gcA	p.A131A	SCAMP4_uc002lui.1_Silent_p.A131A|SCAMP4_uc002luk.3_Intron|SCAMP4_uc010dss.3_Silent_p.A87A	NM_079834	NP_524558	Q969E2	SCAM4_HUMAN	Homo sapiens secretory carrier membrane protein 4 (SCAMP4), mRNA.	131					protein transport	integral to membrane							Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTGGGGCGCGTGGTAAGCCT	0.612000														8			3		0	0	1	0	0
GOLGB1	2804	broad.mit.edu	37	3	121396201	121396201	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:121396201C>A	uc010hrc.3	-	15	9096	c.8970G>T	c.(8968-8970)caG>caT	p.Q2990H	GOLGB1_uc003eei.4_Missense_Mutation_p.Q2985H|GOLGB1_uc003eej.4_Missense_Mutation_p.Q2951H|GOLGB1_uc021xcy.1_Missense_Mutation_p.Q2910H	NM_004487	NP_004478	Q14789	GOGB1_HUMAN	Homo sapiens golgin B1 (GOLGB1), mRNA.	2985					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TTATAAGATTCTGCAGATGAC	0.428000														95			6		3.09899e-07	3.55757e-07	1	1	0
GPR128	84873	broad.mit.edu	37	3	100365443	100365443	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:100365443T>C	uc003duc.3	+	9	1409	c.1141T>C	c.(1141-1143)Tat>Cat	p.Y381H	GPR128_uc011bhc.2_Missense_Mutation_p.Y82H	NM_032787	NP_116176	Q96K78	GP128_HUMAN	Homo sapiens G protein-coupled receptor 128 (GPR128), mRNA.	381	GPS.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						ACTCTATTCCTATGCCTGTGT	0.378000														43			5		0	0	1	0	0
CDC42BPB	9578	broad.mit.edu	37	14	103429477	103429477	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:103429477G>A	uc001ymi.1	-	19	2974	c.2742C>T	c.(2740-2742)tcC>tcT	p.S914S	CDC42BPB_uc001ymj.1_Silent_p.S42S	NM_006035	NP_006026	Q9Y5S2	MRCKB_HUMAN	Homo sapiens CDC42 binding protein kinase beta (DMPK-like) (CDC42BPB), mRNA.	914					actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		TTTTGGCTTCGGAATCCTTTA	0.368000														36			15		0	0	1	0	0
ELL	8178	broad.mit.edu	37	19	18555662	18555662	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:18555662C>A	uc002njh.3	-	11	1838	c.1766G>T	c.(1765-1767)aGc>aTc	p.S589I	ELL_uc010ebq.3_Missense_Mutation_p.S532I|ELL_uc002njg.3_Missense_Mutation_p.S456I	NM_006532	NP_006523	P55199	ELL_HUMAN	Homo sapiens elongation factor RNA polymerase II (ELL), mRNA.	589					positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	Cajal body|nuclear speck|transcription elongation factor complex	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(5)|prostate(1)	19				GBM - Glioblastoma multiforme(1328;7.81e-07)		CTTCTCCTGGCTGTAGTTGGT	0.632000			T	MLL	AL									42			5		0.014758	0.0151755	1	1	0
CD109	135228	broad.mit.edu	37	6	74520848	74520848	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:74520848G>A	uc003php.3	+	27	4111	c.3680G>A	c.(3679-3681)cGc>cAc	p.R1227H	CD109_uc003phq.3_Intron|CD109_uc010kba.3_Missense_Mutation_p.R1150H	NM_133493	NP_598000	Q6YHK3	CD109_HUMAN	Homo sapiens CD109 molecule (CD109), transcript variant 1, mRNA.	1227						anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	p.R1227L(2)		NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ACACACAACCGCTTACTCCTT	0.428000														18			26		0	0	1	0	0
IQGAP1	8826	broad.mit.edu	37	15	90996049	90996049	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:90996049G>A	uc002bpl.1	+	11	1306	c.1205G>A	c.(1204-1206)gGt>gAt	p.G402D		NM_003870	NP_003861	P46940	IQGA1_HUMAN	Homo sapiens IQ motif containing GTPase activating protein 1 (IQGAP1), mRNA.	402					energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	GTPase inhibitor activity|Ras GTPase activator activity|calmodulin binding|protein phosphatase binding			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			ATCCAGAAGGGTGTTGCTGAG	0.512000														58			34		0	0	1	0	0
TAAR6	319100	broad.mit.edu	37	6	132892264	132892264	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:132892264G>A	uc011eck.2	+	0	804	c.804G>A	c.(802-804)atG>atA	p.M268I		NM_175067	NP_778237	Q96RI8	TAAR6_HUMAN	Homo sapiens trace amine associated receptor 6 (TAAR6), mRNA.	268						plasma membrane	G-protein coupled receptor activity			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(19)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792)		TAGCATTTATGATTTCATGGT	0.418000														43			23		0	0	1	0	0
ARNT2	9915	broad.mit.edu	37	15	80873696	80873696	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:80873696G>A	uc002bfr.3	+	16	2035	c.1869G>A	c.(1867-1869)tcG>tcA	p.S623S	ARNT2_uc010unm.2_Silent_p.S612S|ARNT2_uc002bfs.3_Silent_p.S612S	NM_014862	NP_055677	Q9HBZ2	ARNT2_HUMAN	Homo sapiens aryl-hydrocarbon receptor nuclear translocator 2 (ARNT2), mRNA.	623					central nervous system development|in utero embryonic development|response to hypoxia		DNA binding|aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35			BRCA - Breast invasive adenocarcinoma(143;0.134)			CTACCTCCTCGCCAAGTGGGA	0.577000														42			24		0	0	1	0	0
KIAA1984	84960	broad.mit.edu	37	9	139701208	139701208	+	Splice_Site	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:139701208G>T	uc004cjf.3	+	12	1339	c.1279_splice	c.e12-1	p.R427_splice	C9orf86_uc004cjm.2_5'Flank|C9orf86_uc004cjh.3_5'Flank|C9orf86_uc004cjj.1_5'Flank|C9orf86_uc004cji.1_5'Flank|C9orf86_uc004cjk.1_5'Flank|LOC100131193_uc004cjg.1_Intron	NM_001039374	NP_001034463	Q5T5S1	K1984_HUMAN	Homo sapiens KIAA1984 (KIAA1984), mRNA.	427										biliary_tract(1)|breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	13	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.33e-06)|Epithelial(140;0.000124)		CCGGCCTACAGAGAGAAGTGG	0.617000														30			4		0.00024832	0.000267289	1	1	0
TMEM132A	54972	broad.mit.edu	37	11	60701095	60701095	+	Missense_Mutation	SNP	C	T	T	rs151003082		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:60701095C>T	uc001nqi.3	+	7	1634	c.1441C>T	c.(1441-1443)Cgc>Tgc	p.R481C	TMEM132A_uc001nqj.3_Missense_Mutation_p.R480C|TMEM132A_uc001nqk.3_Missense_Mutation_p.R493C|TMEM132A_uc001nql.1_3'UTR	NM_017870	NP_060340	Q24JP5	T132A_HUMAN	Homo sapiens transmembrane protein 132A (TMEM132A), transcript variant 1, mRNA.	480						Golgi membrane|endoplasmic reticulum membrane|integral to membrane		p.R481C(4)		breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						CTTCTGGTGGCGCCGGCTCCG	0.711000														14			12		0	0	1	0	0
UGT2B10	7365	broad.mit.edu	37	4	69682430	69682430	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:69682430G>T	uc003hee.3	+	0	718	c.693G>T	c.(691-693)tgG>tgT	p.W231C	UGT2B10_uc011cam.2_Intron	NM_001075	NP_001066	P36537	UDB10_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B10 (UGT2B10), transcript variant 1, mRNA.	231					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						TGAAGAAGTGGGATCAGTTTT	0.303000														28			13		7.93312e-07	9.03407e-07	1	1	0
RASA3	22821	broad.mit.edu	37	13	114751266	114751266	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:114751266G>T	uc001vui.3	-	22	2380	c.2249C>A	c.(2248-2250)gCc>gAc	p.A750D	RASA3_uc010tkk.2_Missense_Mutation_p.A718D|RASA3_uc001vuj.3_Missense_Mutation_p.A367D	NM_007368	NP_031394	Q14644	RASA3_HUMAN	Homo sapiens RAS p21 protein activator 3 (RASA3), mRNA.	750					intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|calcium-release channel activity|metal ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			GCTCCCACAGGCCTCTGTGGA	0.637000														30			16		1.15088e-07	1.32926e-07	1	1	0
ACSS3	79611	broad.mit.edu	37	12	81532987	81532987	+	Silent	SNP	G	A	A	rs11114776	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:81532987G>A	uc001szl.1	+	3	814	c.723G>A	c.(721-723)gcG>gcA	p.A241A	ACSS3_uc001szm.1_Silent_p.A240A	NM_024560	NP_078836	Q9H6R3	ACSS3_HUMAN	Homo sapiens acyl-CoA synthetase short-chain family member 3 (ACSS3), mRNA.	241						mitochondrion	ATP binding|acetate-CoA ligase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						TAGAAGAAGCGCTAAAAATAG	0.358000														41			23		0	0	1	0	0
TAF1A	9015	broad.mit.edu	37	1	222753158	222753158	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:222753158C>A	uc009xdz.2	-	3	557	c.348G>T	c.(346-348)gaG>gaT	p.E116D	TAF1A_uc001hni.2_Missense_Mutation_p.E2D|TAF1A_uc001hnj.3_Missense_Mutation_p.E116D|TAF1A_uc010pur.2_Missense_Mutation_p.E116D	NM_001201536	NP_001188465	Q15573	TAF1A_HUMAN	Homo sapiens TATA box binding protein (TBP)-associated factor, RNA polymerase I, A, 48kDa (TAF1A), transcript variant 3, mRNA.	116					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	RNA polymerase I transcription factor complex	DNA binding			kidney(3)|large_intestine(3)|lung(11)|urinary_tract(1)	18				GBM - Glioblastoma multiforme(131;0.0186)		TATTGAAACTCTCCATGTTGC	0.328000														78			48		3.86361e-14	4.8319e-14	1	1	0
ACACA	31	broad.mit.edu	37	17	35641812	35641812	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:35641812G>T	uc002hnm.3	-	3	478	c.287C>A	c.(286-288)tCt>tAt	p.S96Y	ACACA_uc002hnk.3_Missense_Mutation_p.S18Y|ACACA_uc002hnl.3_Missense_Mutation_p.S38Y|ACACA_uc002hnn.3_Missense_Mutation_p.S96Y|ACACA_uc002hno.3_Missense_Mutation_p.S133Y|ACACA_uc010cuz.3_Missense_Mutation_p.S96Y|ACACA_uc002hnq.2_Missense_Mutation_p.S18Y|ACACA_uc002hnp.1_Non-coding_Transcript	NM_198836	NP_942135	Q13085	ACACA_HUMAN	Homo sapiens acetyl-CoA carboxylase alpha (ACACA), transcript variant 3, mRNA.	96					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	ATP binding|acetyl-CoA carboxylase activity|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	ATCTCGTTGAGAATCTATTTT	0.388000														80			34		5.91797e-21	7.65161e-21	1	1	0
UBXN4	23190	broad.mit.edu	37	2	136513157	136513157	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:136513157C>T	uc002tur.3	+	4	715	c.404C>T	c.(403-405)tCt>tTt	p.S135F	UBXN4_uc002tus.3_5'UTR	NM_014607	NP_055422	Q92575	UBXN4_HUMAN	Homo sapiens UBX domain protein 4 (UBXN4), mRNA.	135					response to unfolded protein	endoplasmic reticulum membrane|nuclear envelope	protein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	24						TCTACTCCATCTGCGTCATTT	0.383000														22			20		0	0	1	0	0
LARP4B	23185	broad.mit.edu	37	10	875496	875496	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:875496A>G	uc001ifs.1	-	9	995	c.954T>C	c.(952-954)ttT>ttC	p.F318F		NM_015155	NP_055970	Q92615	LAR4B_HUMAN	Homo sapiens La ribonucleoprotein domain family, member 4B (LARP4B), mRNA.	318							RNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						TCTTTGGCAAAAATGTGTTTA	0.428000														47			6		0	0	1	0	0
SCARB1	949	broad.mit.edu	37	12	125302182	125302182	+	Silent	SNP	G	A	A	rs138402577		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:125302182G>A	uc001ugp.3	-	1	451	c.198C>T	c.(196-198)tcC>tcT	p.S66S	SCARB1_uc001ugm.4_Silent_p.S66S|SCARB1_uc001ugn.4_Silent_p.S66S|SCARB1_uc010tbd.2_Silent_p.S66S|SCARB1_uc001ugo.4_Silent_p.S66S	NM_001082959	NP_001076428	Q8WTV0	SCRB1_HUMAN	Homo sapiens scavenger receptor class B, member 1 (SCARB1), transcript variant 2, mRNA.	66					adhesion to symbiont|cell adhesion|cholesterol efflux|cholesterol homeostasis|cholesterol import|detection of lipopolysaccharide|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|lipopolysaccharide transport|lipoprotein metabolic process|positive regulation of cholesterol storage|positive regulation of endothelial cell migration|positive regulation of nitric-oxide synthase activity|recognition of apoptotic cell|reverse cholesterol transport|triglyceride homeostasis|wound healing	caveola	1-phosphatidylinositol binding|apolipoprotein A-I binding|high-density lipoprotein particle receptor activity|lipopolysaccharide receptor activity|low-density lipoprotein particle binding|phosphatidylserine binding|transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|prostate(1)	17	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395)	Phosphatidylserine(DB00144)	AGAAGTAGACGGAGAGATAGA	0.587000														63			12		0	0	1	0	0
ABL1	25	broad.mit.edu	37	9	133760330	133760330	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:133760330C>T	uc004bzw.3	+	10	2656	c.2653C>T	c.(2653-2655)Cca>Tca	p.P885S	ABL1_uc004bzv.3_Missense_Mutation_p.P904S	NM_005157	NP_005148	P00519	ABL1_HUMAN	Homo sapiens c-abl oncogene 1, non-receptor tyrosine kinase (ABL1), transcript variant a, mRNA.	885	DNA-binding (By similarity).|Pro-rich.				DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|SH3 domain binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)	CTCTGAGTCGCCAGGGAGGGA	0.672000			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""									12			4		0	0	1	0	0
TERF1	7013	broad.mit.edu	37	8	73937122	73937122	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:73937122C>A	uc003xzd.2	+	4	715	c.690C>A	c.(688-690)caC>caA	p.H230Q	TERF1_uc003xze.2_Missense_Mutation_p.H230Q	NM_017489	NP_059523	P54274	TERF1_HUMAN	Homo sapiens telomeric repeat binding factor (NIMA-interacting) 1 (TERF1), transcript variant 1, mRNA.	230	TRFH dimerization.				G2/M transition of mitotic cell cycle|age-dependent telomere shortening|cell division|induction of apoptosis|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of telomere maintenance via semi-conservative replication|negative regulation of telomere maintenance via telomerase|positive regulation of microtubule polymerization|positive regulation of mitosis|positive regulation of mitotic cell cycle|protein homooligomerization|regulation of transcription, DNA-dependent|telomere maintenance via telomerase|telomere maintenance via telomere shortening	chromosome, telomeric region|cytoplasm|nuclear telomere cap complex|nucleoplasm|nucleus|spindle	DNA bending activity|caspase activator activity|double-stranded telomeric DNA binding|identical protein binding|microtubule binding|protein heterodimerization activity|protein homodimerization activity|telomerase inhibitor activity|telomeric DNA binding			central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9	Breast(64;0.218)		Epithelial(68;0.0984)			TTTTTCAACACTTCAGCTACA	0.284000														30			4		0.00909568	0.00940365	1	1	0
CD46	4179	broad.mit.edu	37	1	207940505	207940505	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:207940505G>T	uc001hgc.3	+	5	996	c.821G>T	c.(820-822)aGt>aTt	p.S274I	CD46_uc001hgg.3_Missense_Mutation_p.S274I|CD46_uc001hgh.3_Missense_Mutation_p.S274I|CD46_uc001hgi.3_Missense_Mutation_p.S274I|CD46_uc001hgj.3_Missense_Mutation_p.S274I|CD46_uc001hgm.3_Missense_Mutation_p.S274I|CD46_uc001hgl.3_Missense_Mutation_p.S274I|CD46_uc001hgp.3_Missense_Mutation_p.S274I	NM_002389	NP_002380	P15529	MCP_HUMAN	Homo sapiens CD46 molecule, complement regulatory protein (CD46), transcript variant a, mRNA.	274	Sushi 4.				complement activation, classical pathway|innate immune response|interspecies interaction between organisms|single fertilization	inner acrosomal membrane|integral to plasma membrane	protein binding|receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	19						GACAGTAACAGTACTTGGGAT	0.363000														110			10		0.000442599	0.000473562	1	1	0
PLCH2	9651	broad.mit.edu	37	1	2418794	2418794	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:2418794G>A	uc001aji.1	+	6	1364	c.1090G>A	c.(1090-1092)Gct>Act	p.A364T	PLCH2_uc010nyz.2_Missense_Mutation_p.A153T|PLCH2_uc009vle.1_Missense_Mutation_p.A153T|PLCH2_uc001ajj.1_Missense_Mutation_p.A153T|PLCH2_uc001ajk.1_Missense_Mutation_p.A153T	NM_014638	NP_055453	O75038	PLCH2_HUMAN	Homo sapiens phospholipase C, eta 2 (PLCH2), mRNA.	365	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		GGTCCTGCAGGCTGGCTGCCG	0.647000														7			4		0	0	1	0	0
STK19	8859	broad.mit.edu	37	6	31940512	31940512	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31940512G>T	uc003nyv.3	+	2	673	c.545G>T	c.(544-546)aGg>aTg	p.R182M	DOM3Z_uc003nyp.1_5'Flank|DOM3Z_uc003nyq.1_5'Flank|DOM3Z_uc010jtl.1_5'Flank|STK19_uc003nyt.3_Missense_Mutation_p.R139M|DOM3Z_uc003nyu.1_5'Flank|STK19_uc011dow.2_Missense_Mutation_p.R182M|STK19_uc011dox.1_Missense_Mutation_p.R139M|STK19_uc003nyw.3_Missense_Mutation_p.R182M|STK19_uc010jtn.1_Intron	NM_032454	NP_115830	P49842	STK19_HUMAN	Homo sapiens serine/threonine kinase 19 (STK19), transcript variant 2, mRNA.	182						nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			skin(5)|upper_aerodigestive_tract(2)	7						GTGCCTGACAGGACCGTGGCC	0.647000														47			6		0.00116845	0.00123466	1	1	0
TOPBP1	11073	broad.mit.edu	37	3	133358811	133358811	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:133358811G>A	uc003eps.3	-	12	2357	c.2225C>T	c.(2224-2226)aCt>aTt	p.T742I		NM_007027	NP_008958	Q92547	TOPB1_HUMAN	Homo sapiens topoisomerase (DNA) II binding protein 1 (TOPBP1), mRNA.	742					DNA repair|response to ionizing radiation	PML body|microtubule organizing center|spindle pole	DNA binding|protein C-terminus binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						ACCTTCTTTAGTTGAATTTTC	0.363000								Other conserved DNA damage response genes						25			16		0	0	1	0	0
DST	667	broad.mit.edu	37	6	56394563	56394563	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:56394563C>A	uc003pcy.4	-	46	9517	c.9409G>T	c.(9409-9411)Gat>Tat	p.D3137Y		NM_015548	NP_056363	Q03001	DYST_HUMAN	Homo sapiens dystonin (DST), transcript variant 1eA, mRNA.	5549					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	Z disc|actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein C-terminus binding|protein binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			ATGATGTCATCTTCTAAGGCC	0.328000														10			10		2.17888e-05	2.40634e-05	1	1	0
ZFHX4	79776	broad.mit.edu	37	8	77766653	77766653	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:77766653C>A	uc003yau.2	+	9	7883	c.7496C>A	c.(7495-7497)aCa>aAa	p.T2499K	ZFHX4_uc003yaw.1_Missense_Mutation_p.T2454K	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	2454						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GATCAGTGTACAGTTGCCTTC	0.493000										HNSCC(33;0.089)				88			8		0.00307968	0.00322291	1	1	0
SURF2	6835	broad.mit.edu	37	9	136227955	136227955	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:136227955G>T	uc004cdi.2	+	5	759	c.711G>T	c.(709-711)aaG>aaT	p.K237N		NM_017503	NP_059973	Q15527	SURF2_HUMAN	Homo sapiens surfeit 2 (SURF2), mRNA.	237							protein binding			breast(1)|large_intestine(1)|lung(4)	6				OV - Ovarian serous cystadenocarcinoma(145;4.87e-07)|Epithelial(140;4.02e-06)|all cancers(34;3.71e-05)		CGTTGAAAAAGAAGTTCAAGA	0.478000														112			73		8.70598e-44	1.15822e-43	1	1	0
SYT15	83849	broad.mit.edu	37	10	46963905	46963905	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:46963905G>T	uc001jea.3	-	6	1211	c.1058C>A	c.(1057-1059)gCc>gAc	p.A353D	SYT15_uc001jdz.2_Missense_Mutation_p.A353D|SYT15_uc001jeb.3_Missense_Mutation_p.A231D|SYT15_uc010qfp.1_Non-coding_Transcript	NM_031912	NP_114118	Q9BQS2	SYT15_HUMAN	Homo sapiens synaptotagmin XV (SYT15), transcript variant a, mRNA.	353	C2 2.					integral to membrane|plasma membrane		p.R353H(1)		cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						GGTGGCATCGGCCTTGAAGCT	0.552000														72			18		1.67942e-08	1.97205e-08	1	1	0
KIAA0930	23313	broad.mit.edu	37	22	45599002	45599002	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:45599002C>T	uc003bfv.1	-	5	934	c.748G>A	c.(748-750)Gag>Aag	p.E250K	KIAA0930_uc003bfx.1_Missense_Mutation_p.E241K|KIAA0930_uc010gzw.1_Missense_Mutation_p.E93K|KIAA0930_uc003bfw.1_Missense_Mutation_p.E246K|KIAA0930_uc010gzx.2_Missense_Mutation_p.E223K|MIR1249_uc021wrh.1_5'Flank	NM_001009880	NP_001009880	Q6ICG6	K0930_HUMAN	Homo sapiens KIAA0930 (KIAA0930), transcript variant 2, mRNA.	241							protein binding			endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|urinary_tract(1)	15						CGCACAAACTCCATGTTGCTG	0.637000														161			8		0	0	1	0	0
NICN1	84276	broad.mit.edu	37	3	49462403	49462403	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49462403G>A	uc003cwz.1	-	4	664	c.579C>T	c.(577-579)tcC>tcT	p.S193S	AMT_uc011bcn.2_5'Flank|AMT_uc003cwx.3_5'Flank|AMT_uc003cww.3_5'Flank|AMT_uc011bco.2_5'Flank|AMT_uc003cwy.3_5'Flank|AMT_uc011bcq.2_5'Flank|AMT_uc011bcp.2_5'Flank|NICN1_uc021wxy.1_5'Flank|NICN1_uc011bcr.2_Silent_p.S155S	NM_032316	NP_115692	Q9BSH3	NICN1_HUMAN	Homo sapiens nicolin 1 (NICN1), mRNA.	193						microtubule|nucleus				kidney(1)|large_intestine(3)|lung(1)	5				BRCA - Breast invasive adenocarcinoma(193;4.52e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CGATCCTTGCGGAGGTGTGAC	0.562000														23			8		0	0	1	0	0
KIAA0753	9851	broad.mit.edu	37	17	6515250	6515250	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:6515250C>A	uc002gde.4	-	7	1893	c.1534G>T	c.(1534-1536)Gca>Tca	p.A512S	KIAA0753_uc010vtd.2_Intron|KIAA0753_uc010clo.3_Missense_Mutation_p.A213S|KIAA0753_uc010vte.2_Missense_Mutation_p.A213S	NM_014804	NP_055619	Q2KHM9	K0753_HUMAN	Homo sapiens KIAA0753 (KIAA0753), mRNA.	512						centrosome				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24				COAD - Colon adenocarcinoma(228;0.157)		TGCTGTCTTGCTGGCGCCAGA	0.443000														123			65		1.08241e-25	1.41772e-25	1	1	0
PRX	57716	broad.mit.edu	37	19	40902826	40902826	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:40902826A>G	uc002onr.3	-	6	1702	c.1433T>C	c.(1432-1434)cTc>cCc	p.L478P	PRX_uc002onq.3_Missense_Mutation_p.L339P|PRX_uc002ons.3_3'UTR	NM_181882	NP_870998	Q9BXM0	PRAX_HUMAN	Homo sapiens periaxin (PRX), transcript variant 2, mRNA.	478	55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER].				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			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)			CACCTTTGGGAGTTTCATCTC	0.582000														141			11		0	0	1	0	0
BCO2	83875	broad.mit.edu	37	11	112085611	112085611	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:112085611C>T	uc001pnf.3	+	9	1576	c.1459C>T	c.(1459-1461)Cgg>Tgg	p.R487W	BCO2_uc001pne.1_Missense_Mutation_p.R314W|BCO2_uc001png.3_Missense_Mutation_p.R414W|BCO2_uc001pnh.3_Missense_Mutation_p.R453W|BCO2_uc010rwt.2_Missense_Mutation_p.R382W|BCO2_uc009yyn.3_Missense_Mutation_p.R453W|BCO2_uc001pni.3_Missense_Mutation_p.R453W	NM_031938	NP_001032367	Q9BYV7	BCDO2_HUMAN	Homo sapiens beta-carotene oxygenase 2 (BCO2), transcript variant 1, mRNA.	487					carotene metabolic process|retinal metabolic process|retinoic acid metabolic process		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)	16						CTGTGGCTTTCGGCATTTAGT	0.403000														220			20		0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	16877108	16877108	+	Missense_Mutation	SNP	C	T	T	rs145872906	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:16877108C>T	uc001ioo.3	-	63	10319	c.10267G>A	c.(10267-10269)Gtt>Att	p.V3423I		NM_001081	NP_001072	O60494	CUBN_HUMAN	Homo sapiens cubilin (intrinsic factor-cobalamin receptor) (CUBN), mRNA.	3423	CUB 26.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GTGAGAGTAACGGTGCAATCC	0.453000														58			27		0	0	1	0	0
GPRIN1	114787	broad.mit.edu	37	5	176025059	176025059	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:176025059C>T	uc003meo.1	-	1	1952	c.1777G>A	c.(1777-1779)Gtg>Atg	p.V593M	GPRIN1_uc021yif.1_Missense_Mutation_p.V593M	NM_052899	NP_443131	Q7Z2K8	GRIN1_HUMAN	Homo sapiens G protein regulated inducer of neurite outgrowth 1 (GPRIN1), mRNA.	593						growth cone|plasma membrane				NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCCAGGGACACGGGATCCACC	0.572000														46			32		0	0	1	0	0
ZNF345	25850	broad.mit.edu	37	19	37368419	37368419	+	Silent	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:37368419T>G	uc002oex.3	+	2	1068	c.687T>G	c.(685-687)ccT>ccG	p.P229P	ZNF345_uc021utn.1_Silent_p.P229P|ZNF345_uc002oey.4_Silent_p.P229P|ZNF345_uc002oez.2_Intron|ZNF345_uc021uto.1_Silent_p.P229P|ZNF345_uc021utp.1_Silent_p.P229P|ZNF345_uc021utq.1_Silent_p.P229P	NM_003419	NP_003410	Q14585	ZN345_HUMAN	Homo sapiens zinc finger protein 345 (ZNF345), transcript variant 1, mRNA.	229					negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|ovary(2)|prostate(1)	24	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GTGAGAAACCTTATGAATGCA	0.418000														46			28		0	0	1	0	0
CPT1B	1375	broad.mit.edu	37	22	51009825	51009825	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:51009825C>T	uc003bmm.3	-	13	1818	c.1719G>A	c.(1717-1719)gcG>gcA	p.A573A	CPT1B_uc003bmk.4_Silent_p.A573A|CPT1B_uc003bml.3_Silent_p.A573A|CPT1B_uc003bmo.3_Silent_p.A573A|CPT1B_uc011asa.2_Silent_p.A539A|CPT1B_uc003bmn.3_Silent_p.A573A|CPT1B_uc011asb.2_Silent_p.A492A|CPT1B_uc003bmp.3_Silent_p.A368A|CPT1B_uc021wsc.1_Non-coding_Transcript|BC048192_uc003bmr.1_Non-coding_Transcript	NM_004377	NP_689452	Q92523	CPT1B_HUMAN	Homo sapiens carnitine palmitoyltransferase 1B (muscle) (CPT1B), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	573					carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)		CCAGCTGCAGCGCGATCTGCA	0.612000														35			33		0	0	1	0	0
SYT15	83849	broad.mit.edu	37	10	46968587	46968587	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:46968587C>T	uc001jea.3	-	2	502	c.349G>A	c.(349-351)Ggc>Agc	p.G117S	SYT15_uc001jdz.2_Missense_Mutation_p.G117S|SYT15_uc001jeb.3_5'UTR|SYT15_uc010qfp.1_5'Flank	NM_031912	NP_114118	Q9BQS2	SYT15_HUMAN	Homo sapiens synaptotagmin XV (SYT15), transcript variant a, mRNA.	117						integral to membrane|plasma membrane		p.G117S(2)		cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						TCACCAAGGCCGCCGCTGGAG	0.657000														18			4		0	0	1	0	0
LOC729020	729020	broad.mit.edu	37	10	105005847	105005847	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:105005847G>A	uc009xxi.2	+	0	204	c.94G>A	c.(94-96)Gat>Aat	p.D32N	BC040734_uc001kwr.3_Intron	NM_001143909	NP_001137381	Q2QD12	Q2QD12_HUMAN	Homo sapiens rcRPE (LOC729020), mRNA.	32					carbohydrate metabolic process		ribulose-phosphate 3-epimerase activity										CTCTGGGGCCGATTATCTGCA	0.557000														84			43		0	0	1	0	0
GALNT2	2590	broad.mit.edu	37	1	230398703	230398703	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:230398703G>A	uc010pwa.1	+	12	1337	c.1265G>A	c.(1264-1266)aGc>aAc	p.S422N	GALNT2_uc010pvy.1_Missense_Mutation_p.S384N|GALNT2_uc010pvz.1_Non-coding_Transcript|GALNT2_uc001htu.2_Missense_Mutation_p.S34N	NM_004481	NP_004472	Q10471	GALT2_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2) (GALNT2), mRNA.	422					immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	Golgi cisterna membrane|extracellular region|integral to Golgi membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.L421P(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				AAGAAACTCAGCTGCAAGCCT	0.403000														96			6		0	0	1	0	0
CRYZL1	9946	broad.mit.edu	37	21	34985901	34985901	+	Missense_Mutation	SNP	G	T	T	rs147398519		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:34985901G>T	uc021wio.1	-	5	454	c.274C>A	c.(274-276)Ctg>Atg	p.L92M	DONSON_uc002ysn.1_Intron|CRYZL1_uc002ysr.1_Missense_Mutation_p.L116M|CRYZL1_uc002yss.1_Non-coding_Transcript|CRYZL1_uc002yst.1_Non-coding_Transcript	NM_145858	NP_665857	O95825	QORL1_HUMAN	Homo sapiens crystallin, zeta (quinone reductase)-like 1 (CRYZL1), mRNA.	92					quinone cofactor metabolic process	cytosol	NADP binding|NADPH:quinone reductase activity|zinc ion binding			lung(1)|prostate(1)|urinary_tract(1)	3						TCAGAGTCCAGGGGCAAAATT	0.358000											OREG0003568	type=REGULATORY REGION|Gene=CRYZL1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		74			6		0.0215528	0.0220531	1	1	0
DCAF4L2	138009	broad.mit.edu	37	8	88885738	88885738	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:88885738G>T	uc003ydz.3	-	0	559	c.462C>A	c.(460-462)agC>agA	p.S154R		NM_152418	NP_689631	Q8NA75	DC4L2_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 4-like 2 (DCAF4L2), mRNA.	154								p.P153Q(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						GCACGGCACAGCTTGGAGTAT	0.552000														50			13		0.00010058	0.000109296	1	1	0
TRIM42	287015	broad.mit.edu	37	3	140409860	140409860	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:140409860C>T	uc003eto.2	+	3	2117	c.1911C>T	c.(1909-1911)ttC>ttT	p.F637F		NM_152616	NP_689829	Q8IWZ5	TRI42_HUMAN	Homo sapiens tripartite motif containing 42 (TRIM42), mRNA.	637	Fibronectin type-III.					intracellular	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						AGATGGAATTCTATGAAGTCA	0.433000														64			36		0	0	1	0	0
SIX4	51804	broad.mit.edu	37	14	61190785	61190785	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:61190785G>T	uc001xfc.3	-	0	68	c.8C>A	c.(7-9)tCt>tAt	p.S3Y	SIX4_uc010app.1_Intron	NM_017420	NP_059116	Q9UIU6	SIX4_HUMAN	Homo sapiens SIX homeobox 4 (SIX4), mRNA.	3						nucleus				breast(5)|endometrium(1)|large_intestine(11)|liver(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28				OV - Ovarian serous cystadenocarcinoma(108;0.0275)		GGGGGAGGAAGAGGACATTTT	0.562000														80			6		0.0215528	0.0220531	1	1	0
DEGS1	8560	broad.mit.edu	37	1	224380147	224380147	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:224380147G>T	uc001hoj.3	+	2	1068	c.939G>T	c.(937-939)aaG>aaT	p.K313N		NM_003676	NP_003667	O15121	DEGS1_HUMAN	Homo sapiens delta(4)-desaturase, sphingolipid 1 (DEGS1), mRNA.	313					sphingolipid metabolic process|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	electron carrier activity|protein binding|sphingolipid delta-4 desaturase activity			breast(1)|kidney(3)|large_intestine(2)|lung(4)	10	Breast(184;0.193)			GBM - Glioblastoma multiforme(131;0.00643)		CAAGAATGAAGAGGCACCAAA	0.363000														36			4		0.000602214	0.000641151	1	1	0
STAT1	6772	broad.mit.edu	37	2	191874731	191874731	+	Splice_Site	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:191874731C>A	uc010fse.2	-	2	432	c.0_splice	c.e2-1		STAT1_uc021vue.1_Splice_Site|STAT1_uc002usj.2_Splice_Site|STAT1_uc002usk.2_Splice_Site|STAT1_uc002usl.2_Splice_Site_p.W2_splice|STAT1_uc010fsf.1_Splice_Site	NM_007315	NP_009330	P42224	STAT1_HUMAN	Homo sapiens signal transducer and activator of transcription 1, 91kDa (STAT1), transcript variant alpha, mRNA.						I-kappaB kinase/NF-kappaB cascade|activation of caspase activity|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|calcium ion binding|protein binding|signal transducer activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		Fludarabine(DB01073)	CTGAGACATCCTATAGGGAAA	0.393000														73			10		0.00621372	0.00645399	1	1	0
HIST1H2BA	255626	broad.mit.edu	37	6	25727362	25727362	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:25727362G>T	uc003nfd.3	+	0	226	c.226G>T	c.(226-228)Gcg>Tcg	p.A76S	HIST1H2AA_uc003nfc.3_5'Flank	NM_170610	NP_733759	Q96A08	H2B1A_HUMAN	Homo sapiens histone cluster 1, H2ba (HIST1H2BA), mRNA.	76					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|kidney(1)	2						TGAGCGTATAGCGAGCGAGGC	0.507000														32			19		6.33239e-15	7.95586e-15	1	1	0
CCDC39	339829	broad.mit.edu	37	3	180377294	180377294	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:180377294C>T	uc010hxe.3	-	5	799	c.684G>A	c.(682-684)gaG>gaA	p.E228E	CCDC39_uc003fkn.3_Non-coding_Transcript	NM_181426	NP_852091	Q9UFE4	CCD39_HUMAN	Homo sapiens coiled-coil domain containing 39 (CCDC39), mRNA.	228					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton		p.E228G(1)		NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			CTATTGTGTTCTCCCATTGTT	0.368000														52			34		0	0	1	0	0
CHAT	1103	broad.mit.edu	37	10	50860015	50860015	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:50860015G>A	uc001jhz.2	+	10	1750	c.1597G>A	c.(1597-1599)Gcc>Acc	p.A533T	CHAT_uc001jhv.1_Missense_Mutation_p.A415T|CHAT_uc001jhx.1_Missense_Mutation_p.A415T|CHAT_uc001jhy.1_Missense_Mutation_p.A415T|CHAT_uc001jia.2_Missense_Mutation_p.A451T|CHAT_uc010qgs.1_Missense_Mutation_p.A415T	NM_020549	NP_066266	P28329	CLAT_HUMAN	Homo sapiens choline O-acetyltransferase (CHAT), transcript variant M, mRNA.	533					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	CAGCCCTGATGCCTTCATCCA	0.468000														28			7		0	0	1	0	0
TRIM69	140691	broad.mit.edu	37	15	45059499	45059499	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:45059499C>T	uc001zuf.2	+	7	1927	c.1032C>T	c.(1030-1032)agC>agT	p.S344S	TRIM69_uc001zug.1_Silent_p.S344S|TRIM69_uc001zuh.1_Silent_p.S185S|TRIM69_uc001zui.1_Silent_p.S140S|TRIM69_uc010bdy.1_Silent_p.S123S	NM_182985	NP_892030	Q86WT6	TRI69_HUMAN	Homo sapiens tripartite motif containing 69 (TRIM69), transcript variant a, mRNA.	344	B30.2/SPRY.				apoptosis	nuclear speck	zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(9)|skin(1)	20		all_cancers(109;2.47e-13)|all_epithelial(112;2.84e-11)|Lung NSC(122;2.23e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;5.5e-19)|GBM - Glioblastoma multiforme(94;1.07e-06)|Colorectal(105;0.138)|COAD - Colon adenocarcinoma(120;0.141)		GCCAAACCAGCGTCTGGCATG	0.468000														58			44		0	0	1	0	0
SLC26A8	116369	broad.mit.edu	37	6	35987396	35987396	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:35987396T>C	uc003olm.3	-	1	200	c.89A>G	c.(88-90)tAc>tGc	p.Y30C	SLC26A8_uc003oll.3_Missense_Mutation_p.Y30C|SLC26A8_uc003oln.3_Missense_Mutation_p.Y30C	NM_001193476	NP_443193	Q96RN1	S26A8_HUMAN	Homo sapiens solute carrier family 26, member 8 (SLC26A8), transcript variant 3, mRNA.	30					cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						CTCCTCATTGTATACTTCACG	0.493000														20			6		0	0	1	0	0
MAGI2	9863	broad.mit.edu	37	7	77789561	77789561	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:77789561G>A	uc003ugx.3	-	15	2880	c.2626C>T	c.(2626-2628)Cca>Tca	p.P876S	MAGI2_uc003ugy.3_Missense_Mutation_p.P862S|MAGI2_uc010ldx.1_Missense_Mutation_p.P469S	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 2 (MAGI2), mRNA.	876						cell junction|synapse|synaptosome	phosphatase binding	p.P876S(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				ACAGAGCCTGGACTTCTCCCG	0.532000														36			35		0	0	1	0	0
CCNT2	905	broad.mit.edu	37	2	135711150	135711150	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:135711150C>T	uc002tuc.2	+	8	1158	c.1125C>T	c.(1123-1125)agC>agT	p.S375S	CCNT2_uc010zbf.2_Silent_p.S200S|CCNT2_uc002tub.2_Silent_p.S375S|CCNT2_uc002tud.2_Silent_p.S38S	NM_058241	NP_490595	O60583	CCNT2_HUMAN	Homo sapiens cyclin T2 (CCNT2), transcript variant b, mRNA.	375					cell cycle|cell division|interspecies interaction between organisms|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein kinase binding			endometrium(2)|kidney(3)|large_intestine(10)|lung(6)|ovary(2)|prostate(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.107)		TGTCTGGTAGCCAGTACAACA	0.423000														67			55		0	0	1	0	0
ABCA6	23460	broad.mit.edu	37	17	67099080	67099080	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:67099080G>T	uc002jhw.1	-	20	2945	c.2770C>A	c.(2770-2772)Ctg>Atg	p.L924M		NM_080284	NP_525023	Q8N139	ABCA6_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 6 (ABCA6), mRNA.	924					transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					TGATGCTTCAGTGATTTTATA	0.284000														20			3		1	1	1	1	0
FBN1	2200	broad.mit.edu	37	15	48714159	48714159	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:48714159C>T	uc001zwx.2	-	60	7955	c.7560G>A	c.(7558-7560)acG>acA	p.T2520T	FBN1_uc010beo.2_Non-coding_Transcript	NM_000138	NP_000129	P35555	FBN1_HUMAN	Homo sapiens fibrillin 1 (FBN1), mRNA.	2520	EGF-like 43; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		CAATGCAGGACGTATGGTGTT	0.428000														36			13		0	0	1	0	0
SLC27A1	376497	broad.mit.edu	37	19	17597672	17597672	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:17597672G>A	uc002ngu.1	+	1	518	c.468G>A	c.(466-468)gcG>gcA	p.A156A	SLC27A1_uc002ngt.1_Intron|SLC27A1_uc010xpp.1_5'UTR	NM_198580	NP_940982	Q6PCB7	S27A1_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 1 (SLC27A1), mRNA.	156					cardiolipin biosynthetic process|fatty acid metabolic process|long-chain fatty acid transport|negative regulation of phospholipid biosynthetic process|phosphatidic acid biosynthetic process|phosphatidylcholine biosynthetic process|phosphatidylethanolamine biosynthetic process|phosphatidylinositol biosynthetic process|phosphatidylserine biosynthetic process|transmembrane transport	endomembrane system|integral to membrane	fatty acid transporter activity|nucleotide binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						TGGAGGCCGCGCTGCTCAACG	0.706000														8			5		0	0	1	0	0
SHARPIN	81858	broad.mit.edu	37	8	145154071	145154071	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:145154071G>A	uc003zba.3	-	6	1444	c.960C>T	c.(958-960)gaC>gaT	p.D320D	SHARPIN_uc003zbb.3_Intron	NM_030974	NP_112236	Q9H0F6	SHRPN_HUMAN	Homo sapiens SHANK-associated RH domain interactor (SHARPIN), transcript variant 1, mRNA.	320					negative regulation of inflammatory response|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein linear polyubiquitination|regulation of CD40 signaling pathway|regulation of tumor necrosis factor-mediated signaling pathway	LUBAC complex|cytosol	polyubiquitin binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|lung(2)|ovary(2)	7	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-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;4.1e-42)|Epithelial(56;1.58e-40)|all cancers(56;6.12e-36)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CAAGTTCCCCGTCCATCTTCT	0.677000														18			10		0	0	1	0	0
KIAA0020	9933	broad.mit.edu	37	9	2828698	2828698	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:2828698C>T	uc003zhp.1	-	8	1029	c.933G>A	c.(931-933)caG>caA	p.Q311Q	KIAA0020_uc003zhq.1_Silent_p.Q310Q	NM_014878	NP_055693	Q15397	K0020_HUMAN	Homo sapiens KIAA0020 (KIAA0020), mRNA.	311	PUM-HD.					endoplasmic reticulum|nucleolus	RNA binding			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(50;0.0319)		GAGTTAGAATCTGTTTCATTT	0.358000														37			15		0	0	1	0	0
CACNA1G	8913	broad.mit.edu	37	17	48655849	48655849	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:48655849G>A	uc002irk.1	+	8	2597	c.2225G>A	c.(2224-2226)aGc>aAc	p.S742N	CACNA1G_uc002iri.1_Missense_Mutation_p.S742N|CACNA1G_uc002irj.1_Missense_Mutation_p.S742N|CACNA1G_uc002irl.1_Missense_Mutation_p.S742N|CACNA1G_uc002irm.1_Missense_Mutation_p.S742N|CACNA1G_uc002irn.1_Missense_Mutation_p.S742N|CACNA1G_uc002iro.1_Missense_Mutation_p.S742N|CACNA1G_uc002irp.1_Missense_Mutation_p.S742N|CACNA1G_uc002irq.1_Missense_Mutation_p.S742N|CACNA1G_uc002irr.1_Missense_Mutation_p.S742N|CACNA1G_uc002irs.1_Missense_Mutation_p.S742N|CACNA1G_uc002irt.1_Missense_Mutation_p.S742N|CACNA1G_uc002iru.1_Missense_Mutation_p.S742N|CACNA1G_uc002irv.1_Missense_Mutation_p.S742N|CACNA1G_uc002irw.1_Missense_Mutation_p.S742N|CACNA1G_uc002irx.1_Missense_Mutation_p.S655N|CACNA1G_uc002iry.1_Missense_Mutation_p.S655N|CACNA1G_uc002isg.1_Missense_Mutation_p.S655N|CACNA1G_uc002ish.1_Missense_Mutation_p.S655N|CACNA1G_uc002isi.1_Missense_Mutation_p.S655N|CACNA1G_uc002irz.1_Missense_Mutation_p.S655N|CACNA1G_uc002isa.1_Missense_Mutation_p.S655N|CACNA1G_uc002isd.1_Missense_Mutation_p.S655N|CACNA1G_uc002isb.1_Missense_Mutation_p.S655N|CACNA1G_uc002isc.1_Missense_Mutation_p.S655N|CACNA1G_uc002ise.1_Missense_Mutation_p.S655N|CACNA1G_uc002isf.1_Missense_Mutation_p.S655N	NM_018896	NP_061496	O43497	CAC1G_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1G subunit (CACNA1G), transcript variant 1, mRNA.	742					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	ATTGTGGACAGCAAGTACTTT	0.592000														62			10		0	0	1	0	0
CD63	967	broad.mit.edu	37	12	56121015	56121015	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56121015C>T	uc001shn.3	-	2	360	c.175G>A	c.(175-177)Gca>Aca	p.A59T	CD63_uc009znz.3_Missense_Mutation_p.A36T|CD63_uc001sho.3_Missense_Mutation_p.A59T	NM_001780	NP_001771	P08962	CD63_HUMAN	Homo sapiens CD63 molecule (CD63), transcript variant 1, mRNA.	59					platelet activation|platelet degranulation	integral to plasma membrane|late endosome membrane|lysosomal membrane|platelet dense granule membrane				kidney(1)|large_intestine(3)|lung(2)|ovary(1)	7						ACACCCACTGCGATGATGACC	0.587000														82			34		0	0	1	0	0
TSPAN31	6302	broad.mit.edu	37	12	58139594	58139594	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:58139594C>A	uc001spt.3	+	1	284	c.130C>A	c.(130-132)Cac>Aac	p.H44N	TSPAN31_uc009zqb.3_Missense_Mutation_p.H44N|TSPAN31_uc010ssa.2_5'UTR	NM_005981	NP_005972	Q12999	TSN31_HUMAN	Homo sapiens tetraspanin 31 (TSPAN31), mRNA.	44					positive regulation of cell proliferation	integral to plasma membrane|membrane fraction				endometrium(1)|kidney(1)|lung(5)	7	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			GTCCAGCATCCACATCATCGG	0.537000														111			7		0.0293803	0.0299714	1	1	0
ZNF598	90850	broad.mit.edu	37	16	2049731	2049731	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:2049731G>A	uc002cof.1	-	10	1834	c.1819C>T	c.(1819-1821)Ccc>Tcc	p.P607S	TCRBV20S1_uc021tak.1_Intron|ZNF598_uc002coe.1_5'UTR	NM_178167	NP_835461	Q86UK7	ZN598_HUMAN	Homo sapiens zinc finger protein 598 (ZNF598), mRNA.	607	Pro-rich.					intracellular	zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						CAGGTAGCGGGCGGGGGCTGT	0.642000														23			14		0	0	1	0	0
PLCD1	5333	broad.mit.edu	37	3	38049554	38049554	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:38049554C>A	uc003chm.3	-	13	2553	c.2199G>T	c.(2197-2199)aaG>aaT	p.K733N	PLCD1_uc003chn.3_Missense_Mutation_p.K712N	NM_001130964	NP_001124436	P51178	PLCD1_HUMAN	Homo sapiens phospholipase C, delta 1 (PLCD1), transcript variant 1, mRNA.	712					intracellular signal transduction|lipid catabolic process|phospholipid metabolic process	cytoplasm	GTPase activating protein binding|calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		TGAAGTCATTCTTGGAGGAGG	0.542000														31			21		6.21321e-17	7.89382e-17	1	1	0
MRE11A	4361	broad.mit.edu	37	11	94200986	94200986	+	Missense_Mutation	SNP	C	T	T	rs140528613		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:94200986C>T	uc009ywj.2	-	9	1420	c.1100G>A	c.(1099-1101)cGa>cAa	p.R367Q	MRE11A_uc001peu.2_Missense_Mutation_p.R364Q|MRE11A_uc001pev.2_Missense_Mutation_p.R364Q			P49959	MRE11_HUMAN	Homo sapiens MRE11 meiotic recombination 11 homolog A (S. cerevisiae) (MRE11A), transcript variant 1, mRNA.	364					DNA duplex unwinding|double-strand break repair via homologous recombination|double-strand break repair via nonhomologous end joining|negative regulation of DNA endoreduplication|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|sister chromatid cohesion|telomere maintenance via telomerase	Mre11 complex|nucleoplasm	3'-5' exonuclease activity|double-stranded DNA binding|manganese ion binding|protein C-terminus binding|single-stranded DNA specific endodeoxyribonuclease activity			breast(5)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	29		Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824)				TACTCGCAGTCGTACAAGAGG	0.328000								Homologous recombination	Ataxia-Telangiectasia-Like Disorder					36			32		0	0	1	0	0
CSGALNACT1	55790	broad.mit.edu	37	8	19316023	19316023	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:19316023C>T	uc011kyn.2	-	4	1829	c.765G>A	c.(763-765)aaG>aaA	p.K255K	CSGALNACT1_uc011kyo.2_Silent_p.K255K|CSGALNACT1_uc003wzg.3_Non-coding_Transcript|CSGALNACT1_uc011kyp.2_Silent_p.K255K|CSGALNACT1_uc003wzh.2_Non-coding_Transcript	NM_001130518	NP_060841	Q8TDX6	CGAT1_HUMAN	Homo sapiens chondroitin sulfate N-acetylgalactosaminyltransferase 1 (CSGALNACT1), transcript variant 1, mRNA.	255					UDP-N-acetylgalactosamine metabolic process|UDP-glucuronate metabolic process|anatomical structure morphogenesis|cell proliferation|cell recognition|chondroitin sulfate biosynthetic process|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process|extracellular matrix organization|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|heparin biosynthetic process|nervous system development	Golgi cisterna membrane|integral to Golgi membrane|soluble fraction	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|glucuronosyltransferase activity|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|peptidoglycan glycosyltransferase activity			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				Colorectal(111;0.182)		CCATGTTGAGCTTTTCATTTT	0.448000														262			31		0	0	1	0	0
C12orf35	55196	broad.mit.edu	37	12	32135497	32135497	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:32135497G>T	uc001rks.3	+	3	2022	c.1608G>T	c.(1606-1608)caG>caT	p.Q536H		NM_018169	NP_060639	Q9HCM1	CL035_HUMAN	Homo sapiens chromosome 12 open reading frame 35 (C12orf35), mRNA.	536										NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	59	all_cancers(9;3.36e-11)|all_epithelial(9;2.56e-11)|all_lung(12;5.67e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0114)			AGATGACCCAGGCAGTATTGA	0.403000														29			16		0.000308642	0.000331285	1	1	0
SYNE1	23345	broad.mit.edu	37	6	152646334	152646334	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:152646334A>G	uc021zhb.1	-	78	15765	c.15542T>C	c.(15541-15543)cTg>cCg	p.L5181P	SYNE1_uc003qot.4_Missense_Mutation_p.L5110P|SYNE1_uc003qou.4_Missense_Mutation_p.L5181P|SYNE1_uc010kiz.3_Missense_Mutation_p.L936P	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	5181					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	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)		TGACCTGCTCAGGGTGGCTTT	0.527000										HNSCC(10;0.0054)				185			14		0	0	1	0	0
WDHD1	11169	broad.mit.edu	37	14	55408345	55408345	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:55408345G>T	uc001xbm.2	-	25	3343	c.3253C>A	c.(3253-3255)Cgt>Agt	p.R1085S	WDHD1_uc010aom.2_Missense_Mutation_p.R602S|WDHD1_uc001xbn.2_Missense_Mutation_p.R962S	NM_007086	NP_009017	O75717	WDHD1_HUMAN	Homo sapiens WD repeat and HMG-box DNA binding protein 1 (WDHD1), transcript variant 1, mRNA.	1085						cytoplasm|nucleoplasm	DNA binding			breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2)	42						TCAACCACACGTTTTCGCTTC	0.373000														41			21		2.39556e-15	3.01546e-15	1	1	0
MYLK3	91807	broad.mit.edu	37	16	46744668	46744668	+	Silent	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:46744668T>G	uc002eei.4	-	10	2264	c.2148A>C	c.(2146-2148)acA>acC	p.T716T	MYLK3_uc010vge.2_Silent_p.T375T	NM_182493	NP_872299	Q32MK0	MYLK3_HUMAN	Homo sapiens myosin light chain kinase 3 (MYLK3), mRNA.	716	Protein kinase.				cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				TCTCTGCATCTGTTTCCCCTA	0.478000														115			44		0	0	1	0	0
C4B	721	broad.mit.edu	37	6	31964364	31964364	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31964364C>T	uc011doy.2	+	27	3714	c.3663C>T	c.(3661-3663)gcC>gcT	p.A1221A	C4B_uc011doz.2_Silent_p.A1221A	NM_001242823	NP_001229752	P0C0L5	CO4B_HUMAN	Homo sapiens complement C4-B-like (LOC100293534), mRNA.	1221					complement activation, classical pathway|inflammatory response|innate immune response	extracellular space	endopeptidase inhibitor activity										TGGCAATGGCCCAGGAGACTG	0.642000														37			10		0	0	1	0	0
CD83	9308	broad.mit.edu	37	6	14131769	14131769	+	Nonsense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:14131769G>T	uc003nbi.3	+	2	350	c.172G>T	c.(172-174)Gag>Tag	p.E58*	CD83_uc021ylz.1_5'UTR|CD83_uc003nbh.3_Nonsense_Mutation_p.E58*	NM_004233	NP_001238830	Q01151	CD83_HUMAN	Homo sapiens CD83 molecule (CD83), transcript variant 1, mRNA.	58	Ig-like V-type.				defense response|humoral immune response|signal transduction	integral to plasma membrane				breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)	12	Breast(50;0.00245)|Ovarian(93;0.137)	all_hematologic(90;0.117)				GGGTGGTGAAGAGAGGATGGA	0.502000														45			4		0.00909568	0.00940365	1	1	0
THBS4	7060	broad.mit.edu	37	5	79357584	79357584	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:79357584G>A	uc021yaw.1	+	7	1245	c.1054G>A	c.(1054-1056)Gcc>Acc	p.A352T		NM_003248	NP_003239	P35443	TSP4_HUMAN	Homo sapiens thrombospondin 4 (THBS4), mRNA.	352	EGF-like 2; calcium-binding (Potential).				endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		CAGATGTGACGCCTGCCCAGT	0.498000														48			5		0	0	1	0	0
TMEM150C	441027	broad.mit.edu	37	4	83406871	83406871	+	Splice_Site	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:83406871G>A	uc011ccj.1	-	8	747	c.632_splice	c.e8-1	p.Y211_splice	TMEM150C_uc003hmy.1_Splice_Site_p.Y181_splice	NM_001080506	NP_001073975	B9EJG8	T150C_HUMAN	Homo sapiens transmembrane protein 150C (TMEM150C), mRNA.	181						integral to membrane				ovary(1)	1						TGAGGATGAAGTCTGGGGAGA	0.493000														13			6		0	0	1	0	0
ANKS6	203286	broad.mit.edu	37	9	101552558	101552558	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:101552558C>T	uc004ayu.3	-	1	711	c.690G>A	c.(688-690)atG>atA	p.M230I	ANKS6_uc004ayy.2_Non-coding_Transcript	NM_173551	NP_775822	Q68DC2	ANKS6_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 6 (ANKS6), mRNA.	230										endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21		Acute lymphoblastic leukemia(62;0.0527)				GTGCGGCCAGCATCAGCGGGC	0.697000														25			16		0	0	1	0	0
PRKCA	5578	broad.mit.edu	37	17	64684448	64684448	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:64684448C>T	uc002jfo.1	+	7	820	c.328C>T	c.(328-330)Cga>Tga	p.R110*	PRKCA_uc002jfp.1_Nonsense_Mutation_p.R239*			P17252	KPCA_HUMAN	Homo sapiens protein kinase C, alpha (PRKCA), mRNA.	239					activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission	cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane	ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Phosphatidylserine(DB00144)|Vitamin E(DB00163)	CAAAGACCGACGACTGTCTGT	0.448000														45			28		0	0	1	0	0
TSPYL1	7259	broad.mit.edu	37	6	116600638	116600638	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:116600638C>T	uc003pwp.4	-	0	643	c.356G>A	c.(355-357)cGc>cAc	p.R119H	DSE_uc011ebf.1_Intron|DSE_uc003pwq.1_5'UTR|DSE_uc003pwr.3_5'Flank|DSE_uc003pws.3_5'Flank	NM_003309	NP_003300	Q9H0U9	TSYL1_HUMAN	Homo sapiens TSPY-like 1 (TSPYL1), mRNA.	119					nucleosome assembly	nucleolus				breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(3)|urinary_tract(1)	11		all_cancers(87;0.0144)|all_epithelial(87;0.021)|Colorectal(196;0.234)		all cancers(137;0.0235)|OV - Ovarian serous cystadenocarcinoma(136;0.0469)|GBM - Glioblastoma multiforme(226;0.0503)|Epithelial(106;0.094)		TTTCAGGCTGCGGTCGGCTGC	0.672000														36			18		0	0	1	0	0
MYO9B	4650	broad.mit.edu	37	19	17322804	17322804	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:17322804G>A	uc010eak.3	+	39	6311	c.6159G>A	c.(6157-6159)acG>acA	p.T2053T	MYO9B_uc002nfi.3_3'UTR|MYO9B_uc002nfm.1_3'UTR	NM_004145	NP_004136	Q13459	MYO9B_HUMAN	Homo sapiens myosin IXB (MYO9B), transcript variant 1, mRNA.	2053	Tail.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	ADP binding|ATP binding|ATPase activity|Rho GTPase activator activity|actin binding|calmodulin binding|metal ion binding|microfilament motor activity			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						CCTTCGTAACGGTCAGAGTGA	0.736000														9			5		0	0	1	0	0
HECW2	57520	broad.mit.edu	37	2	197081742	197081742	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:197081742C>A	uc002utm.1	-	26	4667	c.4484G>T	c.(4483-4485)aGg>aTg	p.R1495M	HECW2_uc002utl.1_Missense_Mutation_p.R1139M	NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 (HECW2), mRNA.	1495	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						CTGTAACAACCTTAGTCGTTG	0.333000														79			7		8.12818e-05	8.84769e-05	1	1	0
RNF213	57674	broad.mit.edu	37	17	78317077	78317077	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:78317077G>A	uc002jyh.2	+	27	6425	c.6282G>A	c.(6280-6282)gcG>gcA	p.A2094A	RNF213_uc021uen.1_Silent_p.A2045A	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	SubName: Full=Uncharacterized protein;	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			TCCTGGATGCGCAGTATCAGA	0.562000														10			12		0	0	1	0	0
NUDT16L1	84309	broad.mit.edu	37	16	4745007	4745007	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:4745007G>A	uc002cxe.3	+	2	497	c.463G>A	c.(463-465)Gga>Aga	p.G155R	NUDT16L1_uc002cxf.2_3'UTR|NUDT16L1_uc021tci.1_Missense_Mutation_p.R178Q	NM_032349	NP_115725	Q9BRJ7	SDOS_HUMAN	Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 16-like 1 (NUDT16L1), transcript variant 1, mRNA.	155	Interaction with PXN (By similarity).					cytoplasm	hydrolase activity			endometrium(1)|large_intestine(1)|lung(1)|skin(1)	4						GGACCGAGTCGGAGGCTTCCC	0.632000														28			14		0	0	1	0	0
SEC24B	10427	broad.mit.edu	37	4	110446649	110446649	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:110446649G>T	uc003hzk.3	+	15	2835	c.2780G>T	c.(2779-2781)aGg>aTg	p.R927M	SEC24B_uc003hzl.3_Missense_Mutation_p.R892M|SEC24B_uc011cfp.2_Missense_Mutation_p.R957M|SEC24B_uc011cfq.2_Missense_Mutation_p.R926M|SEC24B_uc011cfr.2_Missense_Mutation_p.R891M	NM_006323	NP_006314	O95487	SC24B_HUMAN	Homo sapiens SEC24 family, member B (S. cerevisiae) (SEC24B), transcript variant 1, mRNA.	927					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|Golgi membrane|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding			breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		ATGAGAATAAGGTGTACTAAA	0.323000														38			5		0.000602214	0.000641151	1	1	0
LOXL2	4017	broad.mit.edu	37	8	23155602	23155602	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:23155602A>G	uc003xdh.1	-	13	2618	c.2279T>C	c.(2278-2280)tTt>tCt	p.F760S	LOXL2_uc010lty.1_Silent_p.L262L	NM_002318	NP_002309	Q9Y4K0	LOXL2_HUMAN	Homo sapiens lysyl oxidase-like 2 (LOXL2), mRNA.	760					aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		GAAGTGCTCAAACTTTTTTTC	0.537000														20			4		0	0	1	0	0
RGS7	6000	broad.mit.edu	37	1	240966253	240966253	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:240966253C>T	uc001hyt.2	-	8	860	c.806G>A	c.(805-807)cGt>cAt	p.R269H	RGS7_uc010pyh.2_Missense_Mutation_p.R411H|RGS7_uc010pyj.1_Missense_Mutation_p.R353H|RGS7_uc001hyu.2_Missense_Mutation_p.R437H|RGS7_uc009xgn.1_Missense_Mutation_p.R384H|RGS7_uc001hyv.2_Missense_Mutation_p.R437H|RGS7_uc001hyw.2_Missense_Mutation_p.R437H	NM_002924	NP_002915	P49802	RGS7_HUMAN	Homo sapiens regulator of G-protein signaling 7 (RGS7), mRNA.	437	G protein gamma.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			TCTTATAAAACGTGGGTATGA	0.343000														80			50		0	0	1	0	0
MTR	4548	broad.mit.edu	37	1	237057785	237057785	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:237057785C>T	uc001hyi.4	+	29	3756	c.3333C>T	c.(3331-3333)agC>agT	p.S1111S	MTR_uc010pxw.2_Silent_p.S704S|MTR_uc010pxx.2_Silent_p.S1060S|MTR_uc010pxy.2_Silent_p.S965S	NM_000254	NP_000245	Q99707	METH_HUMAN	Homo sapiens 5-methyltetrahydrofolate-homocysteine methyltransferase (MTR), mRNA.	1111	AdoMet activation.				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	AAGAGCTGAGCAAGGCCTATG	0.587000														58			21		0	0	1	0	0
MUSK	4593	broad.mit.edu	37	9	113509925	113509925	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:113509925C>A	uc022blv.1	+	6	892	c.758C>A	c.(757-759)tCt>tAt	p.S253Y	MUSK_uc022blt.1_Missense_Mutation_p.S253Y|MUSK_uc004bez.2_Missense_Mutation_p.S263Y|MUSK_uc022blu.1_Missense_Mutation_p.S253Y	NM_005592	NP_005583	O15146	MUSK_HUMAN	Homo sapiens muscle, skeletal, receptor tyrosine kinase (MUSK), transcript variant 1, mRNA.	253	Ig-like 3.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						TGTCAGGTTTCTTCTGGGTCC	0.393000														75			60		3.39796e-24	4.43473e-24	1	1	0
CAMK2G	818	broad.mit.edu	37	10	75585056	75585056	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:75585056G>A	uc001jvv.2	-	13	1146	c.1016C>T	c.(1015-1017)gCg>gTg	p.A339V	CAMK2G_uc001jvs.2_Missense_Mutation_p.A368V|CAMK2G_uc001jvm.2_Missense_Mutation_p.A347V|CAMK2G_uc001jvo.2_Intron|CAMK2G_uc001jvp.2_Missense_Mutation_p.A347V|CAMK2G_uc001jvq.2_Intron|CAMK2G_uc001jvr.2_Intron|CAMK2G_uc001jvt.2_Non-coding_Transcript|CAMK2G_uc010qkv.2_Missense_Mutation_p.A66V|CAMK2G_uc009xrp.1_Intron|CAMK2G_uc001jvw.1_Intron|CAMK2G_uc001jvx.1_Intron	NM_172171	NP_751911	Q13555	KCC2G_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase II gamma (CAMK2G), transcript variant 1, mRNA.	358					insulin secretion|interferon-gamma-mediated signaling pathway|synaptic transmission	calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calcium-dependent protein serine/threonine phosphatase activity|calmodulin binding|calmodulin-dependent protein kinase activity			kidney(2)|large_intestine(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	15	Prostate(51;0.0112)					CTGCAAGGGCGCGGGCTCTTG	0.587000														54			24		0	0	1	0	0
DNM2	1785	broad.mit.edu	37	19	10939813	10939813	+	Silent	SNP	C	T	T	rs117598326	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10939813C>T	uc002mpt.2	+	18	2350	c.2160C>T	c.(2158-2160)gaC>gaT	p.D720D	DNM2_uc010dxk.2_Intron|DNM2_uc002mps.2_Silent_p.D720D|DNM2_uc010dxl.2_Silent_p.D720D|DNM2_uc002mpu.2_Silent_p.D716D|DNM2_uc002mpv.2_Silent_p.D716D|DNM2_uc002mpw.3_Silent_p.D449D|DNM2_uc002mpx.1_Silent_p.D76D	NM_001005360	NP_001005360	P50570	DYN2_HUMAN	Homo sapiens dynamin 2 (DNM2), transcript variant 1, mRNA.	720	GED.				G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	Golgi membrane|cell junction|cytosol|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding	p.R720C(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			AGCGGCGGGACGACATGCTGC	0.622000			"""F, N, Splice, Mis, O"""		ETP ALL									8			9		0	0	1	0	0
ZNF134	7693	broad.mit.edu	37	19	58132515	58132515	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58132515C>T	uc002qpn.2	+	2	1127	c.1028C>T	c.(1027-1029)cCg>cTg	p.P343L	ZNF134_uc002qpo.2_Missense_Mutation_p.P170L|ZNF211_uc010yhb.1_5'UTR	NM_003435	NP_003426	P52741	ZN134_HUMAN	Homo sapiens zinc finger protein 134 (ZNF134), mRNA.	343						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(3)|prostate(1)	11		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		GAGTCAAAGCCGTTTGAGTGC	0.428000														109			71		0	0	1	0	0
OPA1	4976	broad.mit.edu	37	3	193363415	193363415	+	Splice_Site	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:193363415G>A	uc003ftg.3	+	17	1915	c.1681_splice	c.e17+1	p.G561_splice	OPA1_uc003fth.3_Splice_Site_p.G525_splice|OPA1_uc003fti.3_Splice_Site_p.G543_splice|OPA1_uc003ftj.3_Splice_Site_p.G524_splice|OPA1_uc003ftk.3_Splice_Site_p.G507_splice|OPA1_uc003ftl.3_Splice_Site_p.G488_splice|OPA1_uc003ftm.3_Splice_Site_p.G506_splice|OPA1_uc003ftn.3_Splice_Site_p.G470_splice	NM_130837	NP_570850	O60313	OPA1_HUMAN	Homo sapiens optic atrophy 1 (autosomal dominant) (OPA1), nuclear gene encoding mitochondrial protein, transcript variant 8, mRNA.	506					apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception	dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane	GTP binding|GTPase activity|magnesium ion binding|protein binding			breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		ACAGGAAAAGGTATGCAAAGA	0.284000														36			17		0	0	1	0	0
CCL27	10850	broad.mit.edu	37	9	34662395	34662395	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:34662395C>A	uc003zvm.1	-	1	148	c.89G>T	c.(88-90)aGc>aTc	p.S30I		NM_006664	NP_006655	Q9Y4X3	CCL27_HUMAN	Homo sapiens chemokine (C-C motif) ligand 27 (CCL27), mRNA.	30					cell-cell signaling|chemotaxis|immune response	extracellular space	chemokine activity			kidney(1)|large_intestine(3)|ovary(1)	5	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)		GCAGGCAGTGCTGGGTGGCAG	0.562000														19			9		0.0692343	0.0703432	1	1	0
ZNF710	374655	broad.mit.edu	37	15	90611596	90611596	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:90611596C>T	uc002bov.2	+	1	1350	c.1227C>T	c.(1225-1227)tgC>tgT	p.C409C		NM_198526	NP_940928	Q8N1W2	ZN710_HUMAN	Homo sapiens zinc finger protein 710 (ZNF710), mRNA.	409					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(1)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	19	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129)			GCCATGTCTGCGTCGAGTGCG	0.652000														31			16		0	0	1	0	0
CDS2	8760	broad.mit.edu	37	20	5155838	5155838	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:5155838C>T	uc002wls.3	+	2	536	c.204C>T	c.(202-204)aaC>aaT	p.N68N	CDS2_uc002wlr.2_5'UTR|CDS2_uc002wlw.3_Intron|CDS2_uc002wlv.3_5'Flank	NM_003818	NP_003809	O95674	CDS2_HUMAN	Homo sapiens CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 2 (CDS2), mRNA.	68					phospholipid biosynthetic process	integral to membrane|mitochondrial inner membrane	phosphatidate cytidylyltransferase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|stomach(1)	14						GATGGAAGAACTGGTGGGTGA	0.443000														72			44		0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51484203	51484203	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:51484203C>T	uc003pah.1	-	66	12177	c.11901G>A	c.(11899-11901)gtG>gtA	p.V3967V		NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	3967					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CAGGAGCAGGCACAGCAGCCT	0.567000														45			34		0	0	1	0	0
MECP2	4204	broad.mit.edu	37	X	153296256	153296256	+	Silent	SNP	G	A	A	rs62643610		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153296256G>A	uc004fjv.2	-	3	1249	c.1023C>T	c.(1021-1023)agC>agT	p.S341S	MECP2_uc004fjw.2_Silent_p.S353S	NM_004992	NP_004983	P51608	MECP2_HUMAN	Homo sapiens methyl CpG binding protein 2 (Rett syndrome) (MECP2), transcript variant 1, mRNA.	341					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	heterochromatin|nucleus	double-stranded methylated DNA binding|protein N-terminus binding|protein domain specific binding|transcription corepressor activity			breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1)	23	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TCCGCCCAGGGCTCTTACAGG	0.627000														45			33		0	0	1	0	0
ARHGAP11A	9824	broad.mit.edu	37	15	32928743	32928743	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:32928743A>G	uc001zgy.1	+	11	2491	c.1769A>G	c.(1768-1770)aAc>aGc	p.N590S	ARHGAP11A_uc010ubw.1_Missense_Mutation_p.N401S|ARHGAP11A_uc010ubx.1_Missense_Mutation_p.N401S	NM_014783	NP_055598	Q6P4F7	RHGBA_HUMAN	Homo sapiens Rho GTPase activating protein 11A (ARHGAP11A), transcript variant 1, mRNA.	590					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		all_lung(180;1.3e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)		GATGAAAATAACATGACCAAA	0.383000														59			31		0	0	1	0	0
PLA2G1B	5319	broad.mit.edu	37	12	120762744	120762744	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:120762744G>T	uc001tyd.3	-	2	351	c.315C>A	c.(313-315)acC>acA	p.T105T	PLA2G1B_uc009zwx.3_Intron	NM_000928	NP_000919	P04054	PA21B_HUMAN	Homo sapiens phospholipase A2, group IB (pancreas) (PLA2G1B), mRNA.	105					actin filament organization|activation of MAPK activity|activation of phospholipase A2 activity|arachidonic acid secretion|cellular response to insulin stimulus|glucose transport|interleukin-8 production|leukotriene biosynthetic process|multicellular organismal lipid catabolic process|neutrophil chemotaxis|neutrophil mediated immunity|phosphatidylcholine metabolic process|positive regulation of DNA replication|positive regulation of NF-kappaB transcription factor activity|positive regulation of calcium ion transport into cytosol|positive regulation of immune response|positive regulation of protein secretion|positive regulation of transcription from RNA polymerase II promoter	extracellular space	bile acid binding|calcium ion binding|calcium-dependent phospholipase A2 activity|cell surface binding|receptor binding			endometrium(1)|large_intestine(1)|lung(3)|skin(2)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TACTGCTACAGGTGATTGCCG	0.468000											OREG0022189	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		82			6		0.00116845	0.00123466	1	1	0
JAK2	3717	broad.mit.edu	37	9	5050690	5050690	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:5050690G>A	uc010mhm.3	+	4	586	c.473G>A	c.(472-474)cGg>cAg	p.R158Q	JAK2_uc003ziw.3_Missense_Mutation_p.R158Q	NM_004972	NP_004963	O60674	JAK2_HUMAN	Homo sapiens Janus kinase 2 (JAK2), mRNA.	158	FERM.|Interaction with cytokine/interferon/growth hormone receptors (By similarity).				JAK-STAT cascade involved in growth hormone signaling pathway|STAT protein import into nucleus|actin filament polymerization|activation of JAK2 kinase activity|activation of caspase activity by protein phosphorylation|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of DNA binding|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|SH2 domain binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding		BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)		TTTTAGTGGCGGCATGATTTT	0.328000		1	"""T, Mis, O"""	"""ETV6, PCM1, BCR"""	"""ALL, AML, MPD,  CML"""				Polycythemia Vera, Familial					34			13		0	0	1	0	0
BMP5	653	broad.mit.edu	37	6	55684513	55684513	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:55684513C>T	uc003pcq.3	-	1	1335	c.623G>A	c.(622-624)cGa>cAa	p.R208Q	BMP5_uc011dxf.2_Missense_Mutation_p.R208Q	NM_021073	NP_066551	P22003	BMP5_HUMAN	Homo sapiens bone morphogenetic protein 5 (BMP5), mRNA.	208					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			ATTTTCAAATCGGTTGTTGCT	0.338000														28			12		0	0	1	0	0
TRA2B	6434	broad.mit.edu	37	3	185643365	185643365	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:185643365G>A	uc003fpv.3	-	2	496	c.220C>T	c.(220-222)Cgc>Tgc	p.R74C	TRA2B_uc003fpt.3_5'Flank|TRA2B_uc003fpu.3_Non-coding_Transcript|TRA2B_uc010hym.3_5'UTR	NM_004593	NP_001230808	P62995	TRA2B_HUMAN	Homo sapiens transformer 2 beta homolog (Drosophila) (TRA2B), transcript variant 1, mRNA.	74	Arg/Ser-rich (RS1 domain).				nuclear mRNA splicing, via spliceosome	nucleus	RNA binding|nucleotide binding|protein binding			breast(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1)	18						GAGCGGGAGCGAGACCGTGAC	0.507000														48			5		0	0	1	0	0
CCDC135	84229	broad.mit.edu	37	16	57741392	57741392	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:57741392G>A	uc002emi.3	+	6	968	c.879G>A	c.(877-879)ccG>ccA	p.P293P	CCDC135_uc002emj.3_Silent_p.P293P|CCDC135_uc002emk.3_Silent_p.P228P	NM_032269	NP_115645	Q8IY82	CC135_HUMAN	Homo sapiens coiled-coil domain containing 135 (CCDC135), mRNA.	293						cytoplasm				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						AGGCAAAGCCGGATGCCCTGC	0.607000														21			13		0	0	1	0	0
KCNK7	10089	broad.mit.edu	37	11	65360609	65360609	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:65360609G>A	uc001oes.3	-	2	1015	c.791C>T	c.(790-792)gCc>gTc	p.A264V	KCNK7_uc001oeq.3_3'UTR|KCNK7_uc001oer.3_3'UTR|KCNK7_uc001oeu.3_3'UTR	NM_033347	NP_203133	Q9Y2U2	KCNK7_HUMAN	Homo sapiens potassium channel, subfamily K, member 7 (KCNK7), transcript variant A, mRNA.	264						integral to membrane	potassium channel activity|voltage-gated ion channel activity			endometrium(1)|liver(1)|lung(1)	3						CTTCCCCATGGCACGGACCTG	0.622000														9			14		0	0	1	0	0
COG7	91949	broad.mit.edu	37	16	23404666	23404666	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:23404666G>A	uc002dlo.3	-	14	2087	c.1890C>T	c.(1888-1890)atC>atT	p.I630I		NM_153603	NP_705831	P83436	COG7_HUMAN	Homo sapiens component of oligomeric golgi complex 7 (COG7), mRNA.	630					intracellular protein transport|protein glycosylation|protein localization in Golgi apparatus|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.0401)		TGTACTGCCCGATCTGAAACA	0.468000														23			15		0	0	1	0	0
RET	5979	broad.mit.edu	37	10	43606695	43606695	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:43606695G>A	uc001jal.3	+	6	1494	c.1304G>A	c.(1303-1305)gGc>gAc	p.G435D	RET_uc001jak.1_Missense_Mutation_p.G435D|RET_uc010qez.1_Missense_Mutation_p.G181D	NM_020975	NP_066124	P07949	RET_HUMAN	Homo sapiens ret proto-oncogene (RET), transcript variant 2, mRNA.	435					homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	GCATTCAGTGGCATCAACGTC	0.582000		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma					51			28		0	0	1	0	0
PRKRA	8575	broad.mit.edu	37	2	179308017	179308017	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179308017C>T	uc002umf.3	-	4	692	c.491G>A	c.(490-492)aGg>aAg	p.R164K	MIR548N_uc021vsx.1_Intron|PRKRA_uc002umc.3_5'UTR|PRKRA_uc002umd.3_Missense_Mutation_p.R139K|PRKRA_uc002ume.3_Missense_Mutation_p.R153K|PRKRA_uc002umg.3_Missense_Mutation_p.R51K	NM_003690	NP_001132990	O75569	PRKRA_HUMAN	Homo sapiens protein kinase, interferon-inducible double stranded RNA dependent activator (PRKRA), transcript variant 1, mRNA.	164	DRBM 2.|Sufficient for self-association and interaction with TARBP2.				immune response|negative regulation of cell proliferation|production of siRNA involved in RNA interference|response to virus	perinuclear region of cytoplasm	double-stranded RNA binding|enzyme activator activity|protein homodimerization activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.00634)|all cancers(119;0.0265)			TGACTCTAGCCTGCAAATTGT	0.363000														47			15		0	0	1	0	0
KRT24	192666	broad.mit.edu	37	17	38859507	38859507	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:38859507G>T	uc002hvd.3	-	0	496	c.439C>A	c.(439-441)Ctc>Atc	p.L147I		NM_019016	NP_061889	Q2M2I5	K1C24_HUMAN	Homo sapiens keratin 24 (KRT24), mRNA.	147	Coil 1A.|Rod.					cytoplasm|intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00526)				CGGTCATTGAGGTTCTGCATG	0.512000														168			15		4.7546e-09	5.62729e-09	1	1	0
BRWD1	54014	broad.mit.edu	37	21	40685224	40685224	+	Splice_Site	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:40685224C>A	uc002yxk.2	-	2	345	c.50_splice	c.e2-1	p.E17_splice	BRWD1_uc021wjf.1_Splice_Site_p.E17_splice|BRWD1_uc002yxm.3_Splice_Site_p.E17_splice	NM_018963	NP_061836	Q9NSI6	BRWD1_HUMAN	Homo sapiens bromodomain and WD repeat domain containing 1 (BRWD1), transcript variant 1, mRNA.	17					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				GGAAGTACAGCTCTGCGGGAA	0.741000														4			3		4.096e-09	4.85449e-09	1	1	0
CNOT6L	246175	broad.mit.edu	37	4	78647395	78647395	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:78647395T>C	uc011ccd.2	-	10	1512	c.1381A>G	c.(1381-1383)Aca>Gca	p.T461A	CNOT6L_uc003hks.3_Missense_Mutation_p.T461A|CNOT6L_uc003hkt.1_Missense_Mutation_p.T304A	NM_144571	NP_653172	Q96LI5	CNO6L_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 6-like (CNOT6L), mRNA.	461					nuclear-transcribed mRNA poly(A) tail shortening	cytosol	exonuclease activity|protein binding			kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	9						AAGCCATGTGTGATTCTCCCT	0.423000														221			23		0	0	1	0	0
ZNRF2	223082	broad.mit.edu	37	7	30402073	30402073	+	Splice_Site	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:30402073G>A	uc003tat.3	+	4	1802	c.751_splice	c.e4+1			NM_147128	NP_667339	Q8NHG8	ZNRF2_HUMAN	Homo sapiens zinc and ring finger 2 (ZNRF2), mRNA.							cell junction|endosome membrane|lysosomal membrane|presynaptic membrane	ligase activity|zinc ion binding			breast(1)|endometrium(1)|lung(2)|prostate(1)	5						TGTTTTATAGGTAATTTTTTT	0.328000														42			14		0	0	1	0	0
PYCARD	29108	broad.mit.edu	37	16	31213521	31213521	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:31213521G>A	uc010cak.3	-	1	364	c.278C>T	c.(277-279)tCt>tTt	p.S93F	PYCARD_uc002ebm.3_Intron	NM_013258	NP_037390	Q9ULZ3	ASC_HUMAN	Homo sapiens PYD and CARD domain containing (PYCARD), transcript variant 1, mRNA.	93					induction of apoptosis|positive regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|proteolysis|tumor necrosis factor-mediated signaling pathway	IkappaB kinase complex	Pyrin domain binding|caspase activator activity|cysteine-type endopeptidase activity|protein homodimerization activity			NS(1)|kidney(1)	2						CGCGGCTCCAGAGCCTGGAAG	0.697000														13			9		0	0	1	0	0
SLC4A4	8671	broad.mit.edu	37	4	72332189	72332189	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:72332189C>T	uc010iic.3	+	12	1643	c.1526C>T	c.(1525-1527)gCt>gTt	p.A509V	SLC4A4_uc003hfy.3_Missense_Mutation_p.A509V|SLC4A4_uc010iib.3_Missense_Mutation_p.A509V|SLC4A4_uc003hfz.3_Missense_Mutation_p.A509V|SLC4A4_uc003hgc.4_Missense_Mutation_p.A465V|SLC4A4_uc010iid.3_Intron|SLC4A4_uc003hga.2_Missense_Mutation_p.A387V|SLC4A4_uc003hgb.3_Missense_Mutation_p.A465V	NM_001134742	NP_001128214	Q9Y6R1	S4A4_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 4 (SLC4A4), transcript variant 3, mRNA.	509						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			CTGGGCACTGCTGTCTCTGGA	0.408000														197			14		0	0	1	0	0
NEIL3	55247	broad.mit.edu	37	4	178283482	178283482	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:178283482C>T	uc003iut.2	+	9	1792	c.1675C>T	c.(1675-1677)Cgt>Tgt	p.R559C		NM_018248	NP_060718	Q8TAT5	NEIL3_HUMAN	Homo sapiens nei endonuclease VIII-like 3 (E. coli) (NEIL3), mRNA.	559					base-excision repair|nucleotide-excision repair	nucleus	DNA N-glycosylase activity|DNA-(apurinic or apyrimidinic site) lyase activity|bubble DNA binding|damaged DNA binding|double-stranded DNA binding|single-stranded DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164)		all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191)		CCATGGCAAGCGTTCCACCAT	0.373000								Base excision repair (BER), DNA glycosylases						54			26		0	0	1	0	0
SGPP1	81537	broad.mit.edu	37	14	64152887	64152887	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:64152887C>A	uc001xgj.3	-	2	1356	c.1262G>T	c.(1261-1263)gGa>gTa	p.G421V		NM_030791	NP_110418	Q9BX95	SGPP1_HUMAN	Homo sapiens sphingosine-1-phosphate phosphatase 1 (SGPP1), mRNA.	421						endoplasmic reticulum membrane|integral to membrane	dihydrosphingosine-1-phosphate phosphatase activity|sphingosine-1-phosphate phosphatase activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	10				OV - Ovarian serous cystadenocarcinoma(108;0.0056)|all cancers(60;0.0141)|BRCA - Breast invasive adenocarcinoma(234;0.103)		ACCAACCATTCCATAGGTAAT	0.343000														34			19		2.94398e-08	3.4452e-08	1	1	0
NOX3	50508	broad.mit.edu	37	6	155732473	155732473	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:155732473G>A	uc003qqm.3	-	10	1433	c.1330C>T	c.(1330-1332)Cgg>Tgg	p.R444W		NM_015718	NP_056533	Q9HBY0	NOX3_HUMAN	Homo sapiens NADPH oxidase 3 (NOX3), mRNA.	444							electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		CTTGCATCCCGGCAAATCCAG	0.413000														27			20		0	0	1	0	0
TRIM8	81603	broad.mit.edu	37	10	104416970	104416970	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:104416970G>A	uc001kvz.2	+	5	1638	c.1515G>A	c.(1513-1515)ccG>ccA	p.P505P		NM_030912	NP_112174	Q9BZR9	TRIM8_HUMAN	Homo sapiens tripartite motif containing 8 (TRIM8), mRNA.	505						PML body|cytoplasm	ligase activity|protein homodimerization activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		ACTCACACCCGCTCCCGCCCA	0.667000														15			10		0	0	1	0	0
WDR35	57539	broad.mit.edu	37	2	20160376	20160376	+	Splice_Site	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:20160376C>A	uc002rdi.3	-	12	1336	c.1228_splice	c.e12-1	p.F410_splice	WDR35_uc002rdj.3_Splice_Site_p.F399_splice|WDR35_uc010ext.3_Splice_Site|WDR35_uc002rdh.3_Intron	NM_001006657	NP_001006658	Q9P2L0	WDR35_HUMAN	Homo sapiens WD repeat domain 35 (WDR35), transcript variant 1, mRNA.	410										breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTAGTACAAACTGTGAACAAA	0.289000														27			12		4.93089e-13	6.11992e-13	1	1	0
ZCCHC18	644353	broad.mit.edu	37	X	103358835	103358835	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:103358835C>T	uc011msh.2	+	2	1349	c.33C>T	c.(31-33)agC>agT	p.S11S	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.	11							nucleic acid binding|zinc ion binding										TGGGTAACAGCAGGCAGCAGA	0.507000														15			5		0	0	1	0	0
KCNJ3	3760	broad.mit.edu	37	2	155711428	155711428	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:155711428C>A	uc002tyv.1	+	2	1304	c.1109C>A	c.(1108-1110)cCt>cAt	p.P370H	KCNJ3_uc010zce.1_3'UTR	NM_002239	NP_002230	P48549	IRK3_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 3 (KCNJ3), mRNA.	370					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	ATGTCGTCCCCTTTAATAGCA	0.408000														122			9		3.09899e-07	3.55757e-07	1	1	0
LINGO3	645191	broad.mit.edu	37	19	2290284	2290284	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:2290284G>A	uc010dsx.1	-	1	1620	c.1492C>T	c.(1492-1494)Cgc>Tgc	p.R498C	SPPL2B_uc010dsw.1_Intron|LINGO3_uc021ums.1_Missense_Mutation_p.R498C|AX747191_uc002lvo.1_5'UTR	NM_001101391	NP_001094861	P0C6S8	LIGO3_HUMAN	Homo sapiens leucine rich repeat and Ig domain containing 3 (LINGO3), mRNA.	498						integral to membrane				lung(1)|urinary_tract(1)	2						GGCTCGGGGCGCACGGTCAGC	0.736000														6			4		0	0	1	0	0
RALYL	138046	broad.mit.edu	37	8	85441713	85441713	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:85441713G>A	uc003yct.4	+	1	330	c.196G>A	c.(196-198)Gtt>Att	p.V66I	RALYL_uc003ycq.4_Missense_Mutation_p.V53I|RALYL_uc003ycr.4_Missense_Mutation_p.V53I|RALYL_uc003ycs.4_Missense_Mutation_p.V53I|RALYL_uc010lzy.3_Missense_Mutation_p.V53I	NM_001100391	NP_776247	Q86SE5	RALYL_HUMAN	Homo sapiens RALY RNA binding protein-like (RALYL), transcript variant 1, mRNA.	53	RRM.						RNA binding|identical protein binding|nucleotide binding	p.V53I(3)		endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						TGGATGTTCCGTTCACAAAGG	0.438000														35			4		0	0	1	0	0
SOGA3	387104	broad.mit.edu	37	6	127834173	127834173	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:127834173T>C	uc003qbd.3	-	3	2213	c.1348A>G	c.(1348-1350)Aga>Gga	p.R450G		NM_001012279	NP_001012279	Q5TF21	CF174_HUMAN	Homo sapiens chromosome 6 open reading frame 174 (C6orf174), mRNA.	450						integral to membrane											TGGTGAAGTCTCACAGATACA	0.313000														9			6		0	0	1	0	0
CCBP2	1238	broad.mit.edu	37	3	42906025	42906025	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:42906025G>A	uc003cme.3	+	2	209	c.31G>A	c.(31-33)Gcc>Acc	p.A11T	CCBP2_uc003cmf.3_Missense_Mutation_p.A11T|CCBP2_uc003cmg.3_Intron|CCBP2_uc021wwm.1_Missense_Mutation_p.A11T	NM_001296	NP_001287	O00590	CCBP2_HUMAN	Homo sapiens chemokine binding protein 2 (CCBP2), mRNA.	11					chemotaxis|immune response|multicellular organismal development	integral to plasma membrane	C-X-C chemokine receptor activity	p.A11T(2)		NS(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(10)|skin(2)|urinary_tract(1)	26				KIRC - Kidney renal clear cell carcinoma(284;0.241)		GCAGCCACTCGCCACTGAGGA	0.542000														26			17		0	0	1	0	0
NDUFA9	4704	broad.mit.edu	37	12	4796192	4796192	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:4796192A>G	uc001qnc.3	+	10	1081	c.1052A>G	c.(1051-1053)gAg>gGg	p.E351G	NDUFA9_uc010ses.2_Missense_Mutation_p.E132G	NM_005002	NP_004993	Q16795	NDUA9_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa (NDUFA9), nuclear gene encoding mitochondrial protein, mRNA.	351					mitochondrial electron transport, NADH to ubiquinone|sodium ion transport	mitochondrial matrix|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity|protein binding			NS(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21					NADH(DB00157)	AAGGCCATTGAGGTGCTGCGG	0.517000														25			3		0	0	1	0	0
CLSTN1	22883	broad.mit.edu	37	1	9795563	9795563	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:9795563C>T	uc001aqh.3	-	12	2604	c.1845G>A	c.(1843-1845)acG>acA	p.T615T	CLSTN1_uc001aqi.3_Silent_p.T605T|CLSTN1_uc010oag.2_Silent_p.T596T|CLSTN1_uc001aqf.3_5'Flank	NM_001009566	NP_001009566	O94985	CSTN1_HUMAN	Homo sapiens calsyntenin 1 (CLSTN1), transcript variant 1, mRNA.	615					homophilic cell adhesion	Golgi membrane|cell junction|cell projection|endoplasmic reticulum membrane|integral to membrane|nucleus|postsynaptic membrane	calcium ion binding	p.P614H(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	36	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		GAATTCCGGGCGTGGGGAACT	0.502000														94			8		0	0	1	0	0
CAMKV	79012	broad.mit.edu	37	3	49898709	49898709	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49898709G>A	uc003cxt.1	-	5	659	c.466C>T	c.(466-468)Cgg>Tgg	p.R156W	CAMKV_uc011bcy.1_Missense_Mutation_p.R81W|CAMKV_uc003cxv.1_Missense_Mutation_p.R156W|CAMKV_uc003cxw.1_5'UTR|CAMKV_uc003cxx.1_5'UTR|CAMKV_uc003cxu.2_Missense_Mutation_p.R156W|CAMKV_uc011bcz.1_Missense_Mutation_p.R119W|CAMKV_uc011bda.1_Missense_Mutation_p.R113W|CAMKV_uc011bdb.1_Non-coding_Transcript	NM_024046	NP_076951	Q8NCB2	CAMKV_HUMAN	Homo sapiens CaM kinase-like vesicle-associated (CAMKV), mRNA.	156	Protein kinase.					cytoplasmic vesicle membrane|plasma membrane	ATP binding|protein serine/threonine kinase activity			central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(2)	7				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		TTCTTCAGCCGGTTGTAGTAA	0.527000														29			10		0	0	1	0	0
WDFY3	23001	broad.mit.edu	37	4	85612936	85612936	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:85612936G>A	uc003hpd.3	-	59	9460	c.9052C>T	c.(9052-9054)Ctc>Ttc	p.L3018F	WDFY3_uc003hpe.1_Missense_Mutation_p.L629F	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	Homo sapiens WD repeat and FYVE domain containing 3 (WDFY3), mRNA.	3018						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		GGTTCTTTGAGTTCTAGAAAA	0.338000														31			15		0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149489043	149489043	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:149489043G>A	uc010lpk.3	+	34	5375	c.5375G>A	c.(5374-5376)aGc>aAc	p.S1792N		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	1795	TSP type-1 2.				cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GGCCTGCACAGCACCCGCCAG	0.657000														26			11		0	0	1	0	0
ZNF287	57336	broad.mit.edu	37	17	16456237	16456237	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:16456237G>A	uc021trd.1	-	5	1837	c.1219C>T	c.(1219-1221)Cat>Tat	p.H407Y	ZNF287_uc002gqi.2_Missense_Mutation_p.H407Y	NM_020653	NP_065704	Q9HBT7	ZN287_HUMAN	Homo sapiens zinc finger protein 287 (ZNF287), mRNA.	400					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (92;0.083)		GATGAGATATGCCTAAACTCT	0.433000														148			19		0	0	1	0	0
PDGFC	56034	broad.mit.edu	37	4	157688928	157688928	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:157688928G>A	uc003iph.2	-	4	1409	c.918C>T	c.(916-918)caC>caT	p.H306H	PDGFC_uc003ipi.2_Silent_p.H143H|PDGFC_uc011cis.2_Silent_p.H143H|PDGFC_uc011cir.2_Silent_p.H150H	NM_016205	NP_057289	Q9NRA1	PDGFC_HUMAN	Homo sapiens platelet derived growth factor C (PDGFC), transcript variant 1, mRNA.	306					central nervous system development|platelet-derived growth factor receptor signaling pathway|positive regulation of DNA replication|positive regulation of cell division|positive regulation of fibroblast proliferation|vascular endothelial growth factor receptor signaling pathway	Golgi membrane|endoplasmic reticulum lumen|extracellular space|nucleus	cell surface binding|growth factor activity|platelet-derived growth factor receptor binding|protein homodimerization activity			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212)		TACCTACCTCGTGGTATTTTT	0.383000														32			23		0	0	1	0	0
DCLK3	85443	broad.mit.edu	37	3	36779337	36779337	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:36779337G>A	uc003cgi.2	-	1	1305	c.814C>T	c.(814-816)Cat>Tat	p.H272Y		NM_033403	NP_208382	Q9C098	DCLK3_HUMAN	Homo sapiens doublecortin-like kinase 3 (DCLK3), mRNA.	272						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						CAGCCACCATGTTTGCTCCTG	0.572000														81			8		0	0	1	0	0
OTUD5	55593	broad.mit.edu	37	X	48780953	48780953	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:48780953C>A	uc004dlu.3	-	7	1612	c.1551G>T	c.(1549-1551)ttG>ttT	p.L517F	OTUD5_uc004dlt.4_Missense_Mutation_p.L512F|OTUD5_uc004dlv.3_Missense_Mutation_p.L512F|OTUD5_uc011mmp.2_Missense_Mutation_p.L295F	NM_017602	NP_060072	Q96G74	OTUD5_HUMAN	Homo sapiens OTU domain containing 5 (OTUD5), transcript variant 1, mRNA.	517					negative regulation of type I interferon production		cysteine-type peptidase activity			endometrium(2)|large_intestine(3)|lung(6)|pancreas(2)	13						CCCGGCACTCCAAAGCAGGGT	0.602000														11			4		0.00909568	0.00940365	1	1	0
FMN1	342184	broad.mit.edu	37	15	33200738	33200738	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:33200738G>A	uc001zhf.4	-	7	2661	c.2661C>T	c.(2659-2661)taC>taT	p.Y887Y		NM_001103184	NP_001096654	Q68DA7	FMN1_HUMAN	Homo sapiens formin 1 (FMN1), mRNA.	1110	FH1.|Pro-rich.				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		TGGATGTCTCGTAATACTTTC	0.353000														51			4		0	0	1	0	0
ABI3BP	25890	broad.mit.edu	37	3	100489739	100489739	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:100489739G>A	uc003dun.3	-	28	2541	c.2456C>T	c.(2455-2457)tCt>tTt	p.S819F	ABI3BP_uc003duj.3_Missense_Mutation_p.S399F|ABI3BP_uc003duk.3_Missense_Mutation_p.S528F|ABI3BP_uc003dul.3_Missense_Mutation_p.S649F|ABI3BP_uc011bhd.2_Missense_Mutation_p.S773F|ABI3BP_uc003dum.3_Missense_Mutation_p.S230F	NM_015429	NP_056244	Q7Z7G0	TARSH_HUMAN	Homo sapiens ABI family, member 3 (NESH) binding protein (ABI3BP), mRNA.	819						extracellular space				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						CCGTTTGACAGAGTCAGTAAT	0.532000														63			39		0	0	1	0	0
LOC644189	644189	broad.mit.edu	37	19	36913453	36913453	+	RNA	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:36913453G>A	uc002odz.1	+	0		c.1378G>A								Homo sapiens acyl-CoA thioesterase 4 pseudogene (LOC644189), non-coding RNA.																		AACGGTTACGGGCCCATGGAA	0.512000														11			6		0	0	1	0	0
GPC1	2817	broad.mit.edu	37	2	241398589	241398589	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:241398589G>T	uc002vyw.4	+	1	530	c.309G>T	c.(307-309)caG>caT	p.Q103H	PP14571_uc002vyy.1_5'Flank	NM_002081	NP_002072	P35052	GPC1_HUMAN	Homo sapiens glypican 1 (GPC1), mRNA.	103					axon guidance	anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	9		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;4.51e-33)|all cancers(36;1.74e-30)|OV - Ovarian serous cystadenocarcinoma(60;4.73e-15)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;9.1e-06)|Colorectal(34;0.000487)|Lung(119;0.0013)|LUSC - Lung squamous cell carcinoma(224;0.0154)|COAD - Colon adenocarcinoma(134;0.0194)|READ - Rectum adenocarcinoma(96;0.0949)		TTGCCACCCAGCTGCGCAGCT	0.706000														11			5		0.000602214	0.000641151	1	1	0
DHX8	1659	broad.mit.edu	37	17	41571057	41571057	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:41571057G>A	uc002idu.1	+	7	1087	c.1015G>A	c.(1015-1017)Gat>Aat	p.D339N	DHX8_uc010wif.1_Missense_Mutation_p.D248N|DHX8_uc010wig.2_Missense_Mutation_p.D339N	NM_004941	NP_004932	Q14562	DHX8_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 8 (DHX8), mRNA.	339						catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|RNA binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		TTAGGATGTGGATCAAGAGAC	0.493000														110			92		0	0	1	0	0
ZNF845	91664	broad.mit.edu	37	19	53856301	53856301	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:53856301A>G	uc010ydv.1	+	3	2490	c.2373A>G	c.(2371-2373)gcA>gcG	p.A791A	ZNF845_uc010ydw.1_Silent_p.A791A	NM_138374	NP_612383	Q96IR2	ZN845_HUMAN	Homo sapiens zinc finger protein 845 (ZNF845), mRNA.	791					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						CACACCTGGCACAACATACTA	0.403000														15			13		0	0	1	0	0
EZH1	2145	broad.mit.edu	37	17	40857141	40857141	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:40857141G>A	uc010wgu.2	-	15	1954	c.1918C>T	c.(1918-1920)Cag>Tag	p.Q640*	EZH1_uc002iaz.3_Nonsense_Mutation_p.Q634*|EZH1_uc002iba.3_Nonsense_Mutation_p.Q625*|EZH1_uc010wgt.2_Nonsense_Mutation_p.Q564*|EZH1_uc010wgv.2_Nonsense_Mutation_p.Q594*|EZH1_uc010wgw.2_Nonsense_Mutation_p.Q495*|EZH1_uc010cyp.2_Nonsense_Mutation_p.Q535*|EZH1_uc010cyq.2_Nonsense_Mutation_p.Q551*|EZH1_uc010cyo.1_Nonsense_Mutation_p.Q297*	NM_001991	NP_001982	Q92800	EZH1_HUMAN	Homo sapiens enhancer of zeste homolog 1 (Drosophila) (EZH1), mRNA.	634	SET.				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|chromatin binding	p.S640F(1)		breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	27		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0784)		TCGTTCTTCTGCACAGACTCC	0.522000														55			7		0	0	1	0	0
DLEC1	9940	broad.mit.edu	37	3	38105394	38105394	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:38105394T>C	uc003chp.1	+	5	1178	c.1157T>C	c.(1156-1158)aTt>aCt	p.I386T	DLEC1_uc003cho.1_Missense_Mutation_p.I386T|DLEC1_uc010hgv.1_Missense_Mutation_p.I386T|DLEC1_uc010hgw.1_Missense_Mutation_p.I85T|DLEC1_uc003chq.1_Non-coding_Transcript	NM_007337	NP_031363	Q9Y238	DLEC1_HUMAN	Homo sapiens deleted in lung and esophageal cancer 1 (DLEC1), transcript variant DLEC1-S3, mRNA.	386					negative regulation of cell proliferation	cytoplasm				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		GATTATGAAATTGGTCCAGTT	0.368000														108			9		0	0	1	0	0
CEP192	55125	broad.mit.edu	37	18	13103558	13103558	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:13103558C>A	uc010xac.2	+	38	7002	c.6922C>A	c.(6922-6924)Ctg>Atg	p.L2308M	CEP192_uc010dlf.1_Non-coding_Transcript|CEP192_uc010xad.2_Missense_Mutation_p.L1833M|CEP192_uc002kru.3_Non-coding_Transcript|CEP192_uc002krv.3_Missense_Mutation_p.L730M|CEP192_uc002krx.3_Missense_Mutation_p.L312M|CEP192_uc002kry.3_Non-coding_Transcript	NM_032142	NP_115518	B7ZMF0	B7ZMF0_HUMAN	Homo sapiens centrosomal protein 192kDa (CEP192), mRNA.	1903										NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GAAATGGCATCTGTCATCTTT	0.408000														58			28		1.34939e-06	1.53513e-06	1	1	0
WDR17	116966	broad.mit.edu	37	4	177052789	177052789	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:177052789C>T	uc003iuj.3	+	7	1373	c.1070C>T	c.(1069-1071)gCa>gTa	p.A357V	WDR17_uc003ium.4_Missense_Mutation_p.A333V|WDR17_uc003iul.2_Intron	NM_170710	NP_733828	Q8IZU2	WDR17_HUMAN	Homo sapiens WD repeat domain 17 (WDR17), transcript variant 1, mRNA.	357								p.Q356E(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		CAGAATCAAGCATTTTCTCTT	0.398000														143			76		0	0	1	0	0
PTH	5741	broad.mit.edu	37	11	13514211	13514211	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:13514211T>G	uc001mlb.3	-	2	204	c.89A>C	c.(88-90)aAg>aCg	p.K30T		NM_000315	NP_000306	P01270	PTHY_HUMAN	Homo sapiens parathyroid hormone (PTH), mRNA.	30					bone resorption|cAMP metabolic process|cell-cell signaling|cellular calcium ion homeostasis|cellular macromolecule biosynthetic process|induction of apoptosis by hormones|positive regulation of cAMP biosynthetic process|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|skeletal system development		hormone activity|peptide hormone receptor binding			endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	10				BRCA - Breast invasive adenocarcinoma(625;0.00116)|Epithelial(150;0.0357)|LUSC - Lung squamous cell carcinoma(625;0.0836)		CACAGATCTCTTCCTGGGAAG	0.438000														66			4		0	0	1	0	0
ADH6	130	broad.mit.edu	37	4	100131373	100131373	+	Missense_Mutation	SNP	T	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:100131373T>A	uc003huo.2	-	4	527	c.433A>T	c.(433-435)Agc>Tgc	p.S145C	LOC100507053_uc003hum.2_Intron|ADH6_uc011cef.1_Intron|ADH6_uc003hup.4_Missense_Mutation_p.S145C|ADH6_uc010ile.3_Missense_Mutation_p.S145C	NM_001102470	NP_001095940	P28332	ADH6_HUMAN	Homo sapiens alcohol dehydrogenase 6 (class V) (ADH6), transcript variant 1, mRNA.	145					ethanol oxidation|response to ethanol|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|electron carrier activity|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)	20				OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	Abacavir(DB01048)|NADH(DB00157)	CAGAAGGTGCTGGTATTACCA	0.398000														72			6		0	0	1	0	0
FGD3	89846	broad.mit.edu	37	9	95796895	95796895	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:95796895T>C	uc004asz.2	+	16	2386	c.1858T>C	c.(1858-1860)Tgg>Cgg	p.W620R	FGD3_uc004asw.2_Missense_Mutation_p.W620R|FGD3_uc004asx.2_Missense_Mutation_p.W619R|FGD3_uc011luc.1_Missense_Mutation_p.W223R	NM_033086	NP_149077	Q5JSP0	FGD3_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 3 (FGD3), transcript variant 2, mRNA.	620	PH 2.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	Golgi apparatus|cytoskeleton|cytosol|lamellipodium|ruffle	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	17						CGGTGAGACCTGGAGCGAGGT	0.677000														22			21		0	0	1	0	0
KCNF1	3754	broad.mit.edu	37	2	11053694	11053694	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:11053694C>T	uc002rax.3	+	0	1632	c.1142C>T	c.(1141-1143)aCg>aTg	p.T381M		NM_002236	NP_002227	Q9H3M0	KCNF1_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily F, member 1 (KCNF1), mRNA.	381						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		CCCAAGACCACGCTGGGCAAG	0.572000														24			10		0	0	1	0	0
FLNA	2316	broad.mit.edu	37	X	153582583	153582583	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153582583C>T	uc004fkk.2	-	33	5742	c.5493G>A	c.(5491-5493)cgG>cgA	p.R1831R	FLNA_uc011mzn.1_Silent_p.R22R|FLNA_uc010nuu.1_Silent_p.R1823R	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	Homo sapiens filamin A, alpha (FLNA), transcript variant 2, mRNA.	1831					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	Fc-gamma receptor I complex binding|GTP-Ral binding|Rac GTPase binding|actin filament binding|glycoprotein binding|protein homodimerization activity|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGGGTGCATACCGCACGGTCA	0.652000														52			4		0	0	1	0	0
BPIFB4	149954	broad.mit.edu	37	20	31672753	31672753	+	Missense_Mutation	SNP	G	A	A	rs145491929		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:31672753G>A	uc010zue.2	+	3	748	c.733G>A	c.(733-735)Gtg>Atg	p.V245M		NM_182519	NP_872325	P59827	LPLC4_HUMAN	Homo sapiens BPI fold containing family B, member 4 (BPIFB4), mRNA.	245						cytoplasm|extracellular region	lipid binding										CCTGCCCGGCGTGGGTGTCTA	0.667000														14			12		0	0	1	0	0
DZIP3	9666	broad.mit.edu	37	3	108363603	108363603	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:108363603G>T	uc003dxd.3	+	13	2156	c.1734G>T	c.(1732-1734)caG>caT	p.Q578H	DZIP3_uc003dxf.1_Missense_Mutation_p.Q578H|DZIP3_uc011bhm.2_Missense_Mutation_p.Q29H|DZIP3_uc003dxe.1_Missense_Mutation_p.Q578H|DZIP3_uc003dxg.1_Missense_Mutation_p.Q301H	NM_014648	NP_055463	Q86Y13	DZIP3_HUMAN	Homo sapiens DAZ interacting protein 3, zinc finger (DZIP3), mRNA.	578					protein polyubiquitination	cytoplasm	RNA binding|polyubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						AAATCATACAGAGGATGTTAT	0.398000														76			6		4.096e-09	4.85449e-09	1	1	0
ACOX1	51	broad.mit.edu	37	17	73951967	73951967	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:73951967A>G	uc002jqe.3	-	4	961	c.600T>C	c.(598-600)taT>taC	p.Y200Y	ACOX1_uc010wsq.2_Silent_p.Y162Y|ACOX1_uc010wsr.2_Silent_p.Y132Y|ACOX1_uc002jqf.3_Silent_p.Y200Y	NM_004035	NP_001171968	Q15067	ACOX1_HUMAN	Homo sapiens acyl-CoA oxidase 1, palmitoyl (ACOX1), transcript variant 1, mRNA.	200				Y -> H (in Ref. 2; AAA18595).	fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|prostaglandin metabolic process|very long-chain fatty acid metabolic process	peroxisomal matrix	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity|flavin adenine dinucleotide binding|protein N-terminus binding			large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(1)	14						CATGTAATCCATAGCATTTCC	0.423000														208			18		0	0	1	0	0
FBXO43	286151	broad.mit.edu	37	8	101153262	101153262	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:101153262G>T	uc003yjd.3	-	1	1956	c.1220C>A	c.(1219-1221)tCt>tAt	p.S407Y	FBXO43_uc003yje.3_Missense_Mutation_p.S373Y|FBXO43_uc010mbp.2_Missense_Mutation_p.S407Y	NM_001029860	NP_001025031	Q4G163	FBX43_HUMAN	Homo sapiens F-box protein 43 (FBXO43), transcript variant 2, mRNA.	407					meiosis		zinc ion binding			endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			TCTTTTTTCAGAGTCAGGGTG	0.473000														60			47		3.10996e-30	4.10341e-30	1	1	0
DNAH11	8701	broad.mit.edu	37	7	21654888	21654888	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:21654888C>T	uc003svc.3	+	20	4040	c.4009C>T	c.(4009-4011)Cga>Tga	p.R1337*		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	1337	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TATTTATGTTCGAGTAAGATG	0.333000									Kartagener syndrome					40			32		0	0	1	0	0
C22orf39	128977	broad.mit.edu	37	22	19431881	19431881	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:19431881G>A	uc002zpk.2	-	2	769	c.336C>T	c.(334-336)gtC>gtT	p.V112V	HIRA_uc010gro.2_Intron|HIRA_uc010grp.3_Intron|C22orf39_uc002zpi.3_Intron|C22orf39_uc002zpj.2_5'Flank	NM_173793	NP_776154	Q6P5X5	CV039_HUMAN	Homo sapiens chromosome 22 open reading frame 39 (C22orf39), transcript variant 1, mRNA.	75												Colorectal(54;0.0993)					GTGCAGCCCGGACTCGTGCCC	0.627000														11			15		0	0	1	0	0
RASGRP2	10235	broad.mit.edu	37	11	64504321	64504321	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:64504321C>A	uc009ypu.3	-	8	1226	c.999G>T	c.(997-999)aaG>aaT	p.K333N	RASGRP2_uc001oat.3_Missense_Mutation_p.K235N|RASGRP2_uc001oau.3_Missense_Mutation_p.K188N|RASGRP2_uc009ypv.3_Missense_Mutation_p.K333N|RASGRP2_uc009ypw.3_Missense_Mutation_p.K333N	NM_001098671	NP_722541	Q7LDG7	GRP2_HUMAN	Homo sapiens RAS guanyl releasing protein 2 (calcium and DAG-regulated) (RASGRP2), transcript variant 4, mRNA.	333	Ras-GEF.				Ras protein signal transduction|platelet activation|regulation of cell growth|regulation of small GTPase mediated signal transduction	cell junction|cytosol|ruffle membrane|synapse|synaptosome	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GCTGCTTCATCTTGGCCCCGT	0.657000														14			14		4.3838e-07	5.01911e-07	1	1	0
OR1L4	254973	broad.mit.edu	37	9	125486357	125486357	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:125486357C>T	uc004bmu.1	+	0	89	c.89C>T	c.(88-90)gCc>gTc	p.A30V		NM_001005235	NP_001005235	Q8NGR5	OR1L4_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily L, member 4 (OR1L4), mRNA.	30					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1)	20						CCTCTCTTTGCCATCTTCCTC	0.507000														58			49		0	0	1	0	0
VRTN	55237	broad.mit.edu	37	14	74824284	74824284	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:74824284G>A	uc021rwl.1	+	0	798	c.798G>A	c.(796-798)tcG>tcA	p.S266S	VRTN_uc001xpw.4_Silent_p.S266S	NM_018228	NP_060698	Q9H8Y1	VRTN_HUMAN	Homo sapiens vertebrae development homolog (pig) (VRTN), mRNA.	266					transposition, DNA-mediated		DNA binding|transposase activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						CACTCTCATCGCCGGCCAAGA	0.642000														29			16		0	0	1	0	0
CTC1	80169	broad.mit.edu	37	17	8137903	8137903	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:8137903G>A	uc002gkq.4	-	9	1747	c.1688C>T	c.(1687-1689)gCc>gTc	p.A563V	CTC1_uc010cnv.3_Non-coding_Transcript	NM_025099	NP_079375	Q2NKJ3	CTC1_HUMAN	Homo sapiens CTS telomere maintenance complex component 1 (CTC1), mRNA.	563					positive regulation of DNA replication|telomere maintenance	Stn1-Ten1 complex	protein binding|single-stranded DNA binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						GGAGGCCCAGGCCTTACGCTG	0.617000														9			3		0	0	1	0	0
SESTD1	91404	broad.mit.edu	37	2	180008500	180008500	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:180008500C>T	uc002uni.4	-	8	818	c.668G>A	c.(667-669)cGt>cAt	p.R223H		NM_178123	NP_835224	Q86VW0	SESD1_HUMAN	Homo sapiens SEC14 and spectrin domains 1 (SESTD1), mRNA.	223					regulation of calcium ion transport via voltage-gated calcium channel activity		phosphatidic acid binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding|protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3)	30			OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)			ATTAAATCGACGCTGCTGTAA	0.378000														53			28		0	0	1	0	0
ATG2B	55102	broad.mit.edu	37	14	96784097	96784097	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:96784097C>A	uc001yfi.3	-	18	3340	c.2975G>T	c.(2974-2976)aGt>aTt	p.S992I		NM_018036	NP_060506	Q96BY7	ATG2B_HUMAN	Homo sapiens ATG2 autophagy related 2 homolog B (S. cerevisiae) (ATG2B), mRNA.	992										breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		AATGAGCTGACTGGCTACTGA	0.348000														64			38		1.30998e-17	1.67124e-17	1	1	0
CORO2A	7464	broad.mit.edu	37	9	100897184	100897184	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:100897184G>A	uc004aym.3	-	3	488	c.372C>T	c.(370-372)taC>taT	p.Y124Y	CORO2A_uc004ayl.3_Silent_p.Y124Y	NM_052820	NP_438171	Q92828	COR2A_HUMAN	Homo sapiens coronin, actin binding protein, 2A (CORO2A), transcript variant 2, mRNA.	124					actin cytoskeleton organization|intracellular signal transduction	actin cytoskeleton|transcriptional repressor complex	actin filament binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|skin(4)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				GTTCCTTCCTGTAGGCCGTGA	0.612000														48			5		0	0	1	0	0
KLHL14	57565	broad.mit.edu	37	18	30254669	30254669	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:30254669G>T	uc002kxm.1	-	8	2226	c.1838C>A	c.(1837-1839)cCt>cAt	p.P613H		NM_020805	NP_065856	Q9P2G3	KLH14_HUMAN	Homo sapiens kelch-like 14 (Drosophila) (KLHL14), mRNA.	613						cytosol|endoplasmic reticulum membrane				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						CACACAGGCAGGGCCTGCCAA	0.463000														140			13		0.0242445	0.0248014	1	1	0
PKDREJ	10343	broad.mit.edu	37	22	46654856	46654856	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:46654856G>A	uc003bhh.3	-	0	4364	c.4364C>T	c.(4363-4365)cCt>cTt	p.P1455L		NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN	Homo sapiens polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin) (PKDREJ), mRNA.	1455					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		ATCCGCTTGAGGTTTCCTCTG	0.383000														128			8		0	0	1	0	0
CCNH	902	broad.mit.edu	37	5	86690887	86690887	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:86690887C>T	uc003kjb.3	-	7	1146	c.907G>A	c.(907-909)Gtc>Atc	p.V303I	CCNH_uc003kiy.1_Non-coding_Transcript|CCNH_uc003kiz.1_Missense_Mutation_p.V250I|CCNH_uc003kja.3_Missense_Mutation_p.V250I	NM_001239	NP_001186118	P51946	CCNH_HUMAN	Homo sapiens cyclin H (CCNH), transcript variant 1, mRNA.	303					G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|S phase of mitotic cell cycle|mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	cyclin-dependent protein kinase activating kinase holoenzyme complex|holo TFIIH complex	protein kinase binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(2)|ovary(2)	15		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;9.01e-39)|Epithelial(54;5.08e-33)|all cancers(79;4.28e-28)		TTCTTTGAGACGTAATCATCA	0.313000								Direct reversal of damage;Direct reversal of damage;Nucleotide excision repair (NER)						121			51		0	0	1	0	0
CXADRP3	440224	broad.mit.edu	37	18	14478148	14478148	+	RNA	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:14478148G>T	uc010xai.2	-	2		c.1416C>A								Homo sapiens coxsackie virus and adenovirus receptor pseudogene 3 (CXADRP3), non-coding RNA.																		GGAAAGCACAGATGAGACGTA	0.408000														16			14		1.5739e-10	1.90488e-10	1	1	0
PLSCR4	57088	broad.mit.edu	37	3	145914444	145914444	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:145914444C>T	uc010huy.3	-	6	1090	c.761G>A	c.(760-762)gGc>gAc	p.G254D	PLSCR4_uc010huz.3_Missense_Mutation_p.G254D|PLSCR4_uc003evt.4_Missense_Mutation_p.G254D|PLSCR4_uc010hva.3_Missense_Mutation_p.G164D|PLSCR4_uc003evu.4_Missense_Mutation_p.G149D	NM_020353	NP_065086	Q9NRQ2	PLS4_HUMAN	Homo sapiens phospholipid scramblase 4 (PLSCR4), transcript variant 2, mRNA.	254					blood coagulation|phospholipid scrambling	integral to membrane	SH3 domain binding|calcium ion binding|phospholipid scramblase activity			kidney(1)|large_intestine(6)|lung(9)|urinary_tract(1)	17						TGAACCACAGCCATAGGTTGA	0.403000														59			40		0	0	1	0	0
GPAM	57678	broad.mit.edu	37	10	113932026	113932026	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:113932026A>G	uc009xxy.2	-	8	918	c.708T>C	c.(706-708)taT>taC	p.Y236Y	GPAM_uc001kzp.3_Silent_p.Y236Y|GPAM_uc001kzq.1_Silent_p.Y236Y	NM_020918	NP_065969	Q9HCL2	GPAT1_HUMAN	Homo sapiens glycerol-3-phosphate acyltransferase, mitochondrial (GPAM), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	236					phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity			breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Epithelial(162;0.0306)|all cancers(201;0.123)		TGAGCAGCAGATAGTCAATAT	0.373000														41			23		0	0	1	0	0
ALDH1A3	220	broad.mit.edu	37	15	101434238	101434238	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:101434238C>T	uc002bwn.4	+	5	721	c.617C>T	c.(616-618)gCg>gTg	p.A206V	ALDH1A3_uc010bpb.3_Intron|BC073817_uc002bwo.1_Non-coding_Transcript	NM_000693	NP_000684	P47895	AL1A3_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member A3 (ALDH1A3), mRNA.	206					retinal metabolic process	cytoplasm	aldehyde dehydrogenase|protein homodimerization activity			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(7)|lung(9)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	27	Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		NADH(DB00157)|Vitamin A(DB00162)	CTGAAGCCTGCGGAGCAGACA	0.547000														133			7		0	0	1	0	0
EFCAB6	64800	broad.mit.edu	37	22	43926799	43926799	+	Missense_Mutation	SNP	G	A	A	rs144891068		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:43926799G>A	uc003bdy.2	-	30	4593	c.4279C>T	c.(4279-4281)Cgt>Tgt	p.R1427C	EFCAB6_uc003bdz.2_Missense_Mutation_p.R1275C|EFCAB6_uc010gzi.2_Missense_Mutation_p.R1275C	NM_022785	NP_942153	Q5THR3	EFCB6_HUMAN	Homo sapiens EF-hand calcium binding domain 6 (EFCAB6), transcript variant 1, mRNA.	1427	Interaction with AR.|Interaction with PARK7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				GGCTGAATACGCAGCAGAGCA	0.542000														30			23		0	0	1	0	0
METTL18	92342	broad.mit.edu	37	1	169762769	169762769	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:169762769C>T	uc001ggn.3	-	1	346	c.68G>A	c.(67-69)gGa>gAa	p.G23E	C1orf112_uc001ggj.3_Intron|METTL18_uc021pen.1_Missense_Mutation_p.G23E|C1orf112_uc001ggo.3_5'Flank|C1orf112_uc010plt.1_5'Flank|C1orf112_uc001ggp.3_5'Flank|C1orf112_uc001ggq.3_5'Flank|C1orf112_uc009wvt.3_5'Flank	NM_033418	NP_219486	O95568	MET18_HUMAN	Homo sapiens methyltransferase like 18 (METTL18), mRNA.	23						cytoplasm	protein methyltransferase activity			kidney(1)|large_intestine(3)|lung(4)	8						GGTCAAAGCTCCATCTCTAAT	0.373000														50			52		0	0	1	0	0
DDX26B	203522	broad.mit.edu	37	X	134711196	134711196	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:134711196C>T	uc004eyw.4	+	13	2215	c.1852C>T	c.(1852-1854)Cct>Tct	p.P618S	DDX26B_uc004eyx.4_Missense_Mutation_p.P219S	NM_182540	NP_872346	Q5JSJ4	DX26B_HUMAN	Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B (DDX26B), mRNA.	618										large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					ACCCAACAGTCCTATGTCATC	0.468000														121			77		0	0	1	0	0
CCDC150	284992	broad.mit.edu	37	2	197511104	197511104	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:197511104C>T	uc002utp.1	+	1	187	c.52C>T	c.(52-54)Cca>Tca	p.P18S	CCDC150_uc002uto.1_Missense_Mutation_p.P18S|CCDC150_uc010zgq.1_Intron|CCDC150_uc010zgr.1_Non-coding_Transcript|CCDC150_uc010zgs.1_5'UTR	NM_001080539	NP_001074008	Q8NCX0	CC150_HUMAN	Homo sapiens coiled-coil domain containing 150 (CCDC150), mRNA.	18										breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						GGTCCTTTCTCCAACCCACAT	0.418000														63			44		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179403465	179403465	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179403465G>A	uc021vsy.1	-	302	91612	c.91387C>T	c.(91387-91389)Ctt>Ttt	p.L30463F	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Non-coding_Transcript|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.L24158F|TTN_uc021vta.1_Missense_Mutation_p.L24091F|TTN_uc021vtb.1_Missense_Mutation_p.L23966F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	31390							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)			CAGTATCCAAGAATTTCTTTA	0.408000														114			54		0	0	1	0	0
PM20D2	135293	broad.mit.edu	37	6	89862821	89862821	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:89862821T>C	uc003pmz.3	+	2	769	c.674T>C	c.(673-675)tTa>tCa	p.L225S		NM_001010853	NP_001010853	Q8IYS1	P20D2_HUMAN	Homo sapiens peptidase M20 domain containing 2 (PM20D2), mRNA.	225							hydrolase activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|skin(1)	12		all_cancers(76;9.47e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00813)		TGGGAAGGATTAAATGCATTA	0.358000														74			5		0	0	1	0	0
ALDH1B1	219	broad.mit.edu	37	9	38395947	38395947	+	Missense_Mutation	SNP	G	A	A	rs143477600		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:38395947G>A	uc022bgy.1	+	0	202	c.202G>A	c.(202-204)Gtg>Atg	p.V68M	ALDH1B1_uc004aay.3_Missense_Mutation_p.V68M	NM_000692	NP_000683	P30837	AL1B1_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member B1 (ALDH1B1), nuclear gene encoding mitochondrial protein, mRNA.	68					carbohydrate metabolic process	mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity	p.H67F(1)		NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)	NADH(DB00157)	CATTGGGCACGTGGCTGAAGG	0.617000														41			30		0	0	1	0	0
LRFN4	78999	broad.mit.edu	37	11	66626355	66626355	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:66626355G>T	uc001ojr.3	+	0	1480	c.1140G>T	c.(1138-1140)gaG>gaT	p.E380D	PC_uc001ojo.1_Intron|PC_uc001ojp.1_Intron|PC_uc001ojn.1_Intron|LRFN4_uc001ojq.1_Missense_Mutation_p.E380D	NM_024036	NP_076941	Q6PJG9	LRFN4_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 4 (LRFN4), mRNA.	380						integral to membrane				breast(1)|lung(1)|prostate(1)	3						GCAGTGCCGAGGGGGGCCGCC	0.711000														6			4		2.56e-06	2.88678e-06	1	1	0
HEATR6	63897	broad.mit.edu	37	17	58121016	58121016	+	Silent	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:58121016T>G	uc002iyk.1	-	19	3471	c.3454A>C	c.(3454-3456)Agg>Cgg	p.R1152R	MIR4737_uc021uba.1_5'Flank|HEATR6_uc010ddk.1_Silent_p.R691R|HEATR6_uc010wos.1_Silent_p.R872R	NM_022070	NP_071353	Q6AI08	HEAT6_HUMAN	Homo sapiens HEAT repeat containing 6 (HEATR6), mRNA.	1152							binding			NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			ATGATGGCCCTTCTGGCTGTG	0.527000														57			17		0	0	1	0	0
MAPK7	5598	broad.mit.edu	37	17	19283924	19283924	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:19283924C>T	uc002gvn.3	+	3	788	c.402C>T	c.(400-402)taC>taT	p.Y134Y	B9D1_uc010cqm.1_5'Flank|MAPK7_uc002gvo.3_5'UTR|MAPK7_uc002gvq.3_Silent_p.Y134Y|MAPK7_uc002gvp.3_Silent_p.Y134Y	NM_139033	NP_620601	Q13164	MK07_HUMAN	Homo sapiens mitogen-activated protein kinase 7 (MAPK7), transcript variant 1, mRNA.	134	Protein kinase.|Required for binding to MAP2K5 (By similarity).				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|cell cycle|cell differentiation|innate immune response|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|protein binding			autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	30	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					CTTCCAGCTACGTGGTCCTGG	0.572000														29			17		0	0	1	0	0
TAF6L	10629	broad.mit.edu	37	11	62549438	62549438	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:62549438G>T	uc001nvc.3	+	6	805	c.604G>T	c.(604-606)Ggg>Tgg	p.G202W	TAF6L_uc009yof.3_Missense_Mutation_p.G202W	NM_006473	NP_006464	Q9Y6J9	TAF6L_HUMAN	Homo sapiens TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa (TAF6L), mRNA.	202					chromatin remodeling|histone H3 acetylation|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	STAGA complex|histone deacetylase complex	DNA binding|protein binding|transcription coactivator activity			endometrium(2)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)	16						TGTGGTCAGTGGGGTAAGTGA	0.527000														37			5		0.000602214	0.000641151	1	1	0
PCDHAC2	56134	broad.mit.edu	37	5	140249965	140249965	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140249965C>T	uc003lia.2	+	0	2135	c.1277C>T	c.(1276-1278)gCg>gTg	p.A426V	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc011dae.2_Missense_Mutation_p.A426V	NM_018902	NP_061725	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 11 (PCDHA11), transcript variant 1, mRNA.	441	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGGTGACTGCGCGGGATGGG	0.622000														75			44		0	0	1	0	0
PTPN12	5782	broad.mit.edu	37	7	77256149	77256149	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:77256149G>A	uc003ugh.2	+	12	1244	c.1153G>A	c.(1153-1155)Gat>Aat	p.D385N	PTPN12_uc011kgp.1_Missense_Mutation_p.D266N|PTPN12_uc011kgq.1_Missense_Mutation_p.D255N|PTPN12_uc010lds.2_Missense_Mutation_p.D117N	NM_002835	NP_002826	Q05209	PTN12_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 12 (PTPN12), transcript variant 1, mRNA.	385	Interaction with TGFB1I1 (By similarity).					soluble fraction	SH3 domain binding|non-membrane spanning protein tyrosine phosphatase activity			breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						GCAGGACAATGATAGATACCA	0.458000														27			35		0	0	1	0	0
ZSWIM2	151112	broad.mit.edu	37	2	187698684	187698684	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:187698684T>C	uc002upu.1	-	5	857	c.817A>G	c.(817-819)Aca>Gca	p.T273A		NM_182521	NP_872327	Q8NEG5	ZSWM2_HUMAN	Homo sapiens zinc finger, SWIM-type containing 2 (ZSWIM2), mRNA.	273					apoptosis		zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			TCACGAAATGTAAACGTGTGG	0.363000														34			22		0	0	1	0	0
LTN1	26046	broad.mit.edu	37	21	30343762	30343762	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:30343762C>T	uc002ymr.2	-	6	966	c.953G>A	c.(952-954)cGc>cAc	p.R318H	LTN1_uc010gll.1_Non-coding_Transcript	NM_015565	NP_056380	O94822	LTN1_HUMAN	Homo sapiens listerin E3 ubiquitin protein ligase 1 (LTN1), mRNA.	272							ligase activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						ATAAGCTGAGCGAATCTAAAA	0.358000														74			62		0	0	1	0	0
NLRP11	204801	broad.mit.edu	37	19	56320975	56320975	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:56320975C>T	uc010ygf.2	-	4	1712	c.1001G>A	c.(1000-1002)gGt>gAt	p.G334D	NLRP11_uc002qlz.3_Missense_Mutation_p.G235D|NLRP11_uc002qmb.3_Missense_Mutation_p.G235D|NLRP11_uc002qmc.3_Non-coding_Transcript|NLRP11_uc010ete.1_Non-coding_Transcript	NM_145007	NP_659444	P59045	NAL11_HUMAN	Homo sapiens NLR family, pyrin domain containing 11 (NLRP11), mRNA.	334	NACHT.						ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		TCGGCACAGACCCACGAGTAT	0.527000														42			4		0	0	1	0	0
ACAA1	30	broad.mit.edu	37	3	38175457	38175457	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:38175457G>A	uc003cht.3	-	2	516	c.309C>T	c.(307-309)atC>atT	p.I103I	ACAA1_uc003chu.3_Silent_p.I103I	NM_001607	NP_001598	P09110	THIK_HUMAN	Homo sapiens acetyl-CoA acyltransferase 1 (ACAA1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	103					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy	peroxisomal matrix	acetyl-CoA C-acyltransferase activity|protein binding	p.I103I(2)|p.R102R(1)		endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	9				KIRC - Kidney renal clear cell carcinoma(284;0.0523)|Kidney(284;0.0657)		GAAACTGGGCGATTCGGGCCA	0.537000														22			17		0	0	1	0	0
ECT2L	345930	broad.mit.edu	37	6	139164320	139164320	+	Nonsense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:139164320G>T	uc003qif.2	+	5	872	c.547G>T	c.(547-549)Gaa>Taa	p.E183*	ECT2L_uc021zfx.1_Nonsense_Mutation_p.E183*|ECT2L_uc011edq.1_Nonsense_Mutation_p.E114*	NM_001077706	NP_001181966	Q008S8	ECT2L_HUMAN	Homo sapiens epithelial cell transforming sequence 2 oncogene-like (ECT2L), transcript variant 1, mRNA.	183					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						GAGACAAAGAGAAAAGTGCCT	0.408000			"""N, Splice, Mis"""		ETP ALL									38			30		6.04164e-23	7.85999e-23	1	1	0
GRK5	2869	broad.mit.edu	37	10	121189892	121189892	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:121189892C>T	uc001led.3	+	6	772	c.539C>T	c.(538-540)cCg>cTg	p.P180L	GRK5_uc009xzh.3_Missense_Mutation_p.P75L|GRK5_uc010qta.1_Missense_Mutation_p.P75L	NM_005308	NP_005299	P34947	GRK5_HUMAN	Homo sapiens G protein-coupled receptor kinase 5 (GRK5), mRNA.	180	N-terminal.				G-protein signaling, coupled to cAMP nucleotide second messenger|regulation of G-protein coupled receptor protein signaling pathway|tachykinin receptor signaling pathway	cytoplasm|plasma membrane|soluble fraction	ATP binding|G-protein coupled receptor kinase activity|phospholipid binding|protein kinase C binding|signal transducer activity			endometrium(2)|large_intestine(5)|lung(15)|skin(3)|stomach(1)|urinary_tract(1)	27		Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249)		all cancers(201;0.0227)		TCCAGGCAACCGGTGACCAAA	0.483000														73			5		0	0	1	0	0
C15orf2	23742	broad.mit.edu	37	15	24922548	24922548	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:24922548A>G	uc001ywo.3	+	0	2008	c.1534A>G	c.(1534-1536)Aca>Gca	p.T512A		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	512	Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis			p.V511V(2)		NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		GCCTCCCGTCACAAGGGAGTC	0.542000														216			14		0	0	1	0	0
MYBL2	4605	broad.mit.edu	37	20	42344668	42344668	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:42344668C>T	uc002xlb.1	+	13	2259	c.2044C>T	c.(2044-2046)Cgg>Tgg	p.R682W	MYBL2_uc010zwj.1_Missense_Mutation_p.R658W	NM_002466	NP_002457	P10244	MYBB_HUMAN	Homo sapiens v-myb myeloblastosis viral oncogene homolog (avian)-like 2 (MYBL2), mRNA.	682						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			GGAGAAAGCCCGGCAGCTCCT	0.612000														93			54		0	0	1	0	0
RGMA	56963	broad.mit.edu	37	15	93595313	93595313	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:93595313G>A	uc010urc.2	-	2	810	c.579C>T	c.(577-579)ggC>ggT	p.G193G	RGMA_uc002bsq.2_Silent_p.G169G|RGMA_uc021svs.1_Silent_p.G169G|RGMA_uc021svt.1_Silent_p.G169G|RGMA_uc010boi.2_Silent_p.G76G|RGMA_uc002bsr.2_Silent_p.G76G|RGMA_uc021svu.1_Silent_p.G169G|RGMA_uc002bss.2_Silent_p.G185G	NM_001166283	NP_001159761	Q96B86	RGMA_HUMAN	Homo sapiens RGM domain family, member A (RGMA), transcript variant 1, mRNA.	185					axon guidance	anchored to membrane|endoplasmic reticulum|plasma membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	9	Lung NSC(78;0.0542)|all_lung(78;0.0786)		BRCA - Breast invasive adenocarcinoma(143;0.0312)|OV - Ovarian serous cystadenocarcinoma(32;0.108)			GCGGCCAGGCGCCCTGCACCT	0.627000														9			6		0	0	1	0	0
IL1RL1	9173	broad.mit.edu	37	2	102968195	102968195	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:102968195G>A	uc002tbu.1	+	10	1756	c.1485G>A	c.(1483-1485)gcG>gcA	p.A495A	IL18R1_uc002tbw.4_Intron	NM_016232	NP_057316	Q01638	ILRL1_HUMAN	Homo sapiens interleukin 1 receptor-like 1 (IL1RL1), transcript variant 1, mRNA.	495	TIR.				innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						AGGCTGAGGCGCTTCAGGACT	0.527000														24			11		0	0	1	0	0
LARS	51520	broad.mit.edu	37	5	145552302	145552302	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:145552302T>C	uc003lnx.1	-	2	399	c.161A>G	c.(160-162)tAt>tGt	p.Y54C	LARS_uc011dbq.1_Missense_Mutation_p.Y54C|LARS_uc011dbr.1_5'UTR|LARS_uc011dbs.1_Missense_Mutation_p.Y54C	NM_020117	NP_064502	Q9P2J5	SYLC_HUMAN	Homo sapiens leucyl-tRNA synthetase (LARS), mRNA.	54					leucyl-tRNA aminoacylation	cytosol	ATP binding|leucine-tRNA ligase activity|protein binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	TCCATTCATATATGGATATGG	0.348000														45			7		0	0	1	0	0
OR6N1	128372	broad.mit.edu	37	1	158735969	158735969	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:158735969G>T	uc010piq.2	-	0	504	c.504C>A	c.(502-504)ttC>ttA	p.F168L		NM_001005185	NP_001005185	Q8NGY5	OR6N1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily N, member 1 (OR6N1), mRNA.	168					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_hematologic(112;0.0378)					TGGGGCCACAGAATGGGAGGC	0.478000														46			28		3.1745e-13	3.94683e-13	1	1	0
HSPA12A	259217	broad.mit.edu	37	10	118434331	118434331	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:118434331C>T	uc001lct.3	-	11	2094	c.1989G>A	c.(1987-1989)tcG>tcA	p.S663S	HSPA12A_uc001lcu.3_Silent_p.S580S	NM_025015	NP_079291	O43301	HS12A_HUMAN	Homo sapiens heat shock 70kDa protein 12A (HSPA12A), mRNA.	663							ATP binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32				all cancers(201;0.0158)		TGACACTCTTCGAAGTGGCTA	0.557000														44			18		0	0	1	0	0
ZNF660	285349	broad.mit.edu	37	3	44635693	44635693	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:44635693G>T	uc003cnl.1	+	2	341	c.8G>T	c.(7-9)aGa>aTa	p.R3I	ZNF660_uc021wwp.1_Missense_Mutation_p.R3I	NM_173658	NP_775929	Q6AZW8	ZN660_HUMAN	Homo sapiens zinc finger protein 660 (ZNF660), mRNA.	3					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(2)|lung(4)	6				KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585)		AAAATGAGGAGAAAGACAAGA	0.403000														34			4		1.23904e-05	1.3743e-05	1	1	0
ZNF283	284349	broad.mit.edu	37	19	44339668	44339668	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:44339668C>A	uc002oxr.4	+	4	402	c.134C>A	c.(133-135)tCt>tAt	p.S45Y	ZNF283_uc002oxp.4_5'UTR	NM_181845	NP_862828	Q8N7M2	ZN283_HUMAN	Homo sapiens zinc finger protein 283 (ZNF283), mRNA.	45					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(4)	8		Prostate(69;0.0352)				TCTGGCTTTTCTGGATTCTGT	0.428000														8			4		0.150653	0.152248	1	1	0
FRMD6	122786	broad.mit.edu	37	14	52188794	52188794	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:52188794C>A	uc001wzd.3	+	11	1773	c.1488C>A	c.(1486-1488)caC>caA	p.H496Q	FRMD6_uc001wzb.3_Missense_Mutation_p.H488Q|FRMD6_uc001wzc.3_Missense_Mutation_p.H488Q|FRMD6_uc001wze.3_Missense_Mutation_p.H419Q|FRMD6_uc001wzf.3_Missense_Mutation_p.H189Q|FRMD6_uc001wzg.3_Missense_Mutation_p.H138Q|U6_uc021rtd.1_5'Flank	NM_152330	NP_689543	Q96NE9	FRMD6_HUMAN	Homo sapiens FERM domain containing 6 (FRMD6), transcript variant 2, mRNA.	496						cytoskeleton|mitochondrion|plasma membrane	binding			breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_epithelial(31;0.0163)|Breast(41;0.089)					TGAATGGACACTCTGGTGAGC	0.507000														55			6		3.59834e-05	3.95114e-05	1	1	0
C2orf65	130951	broad.mit.edu	37	2	74842262	74842262	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:74842262G>T	uc002smy.3	-	2	372	c.255C>A	c.(253-255)aaC>aaA	p.N85K	C2orf65_uc010ysa.2_Missense_Mutation_p.N85K|C2orf65_uc002smz.2_Missense_Mutation_p.N85K	NM_138804	NP_620159	Q8TC57	CB065_HUMAN	Homo sapiens chromosome 2 open reading frame 65 (C2orf65), mRNA.	85					RNA processing|chromatin assembly|female gamete generation|spermatogenesis	integral to membrane				endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	21						ACCTAGCAAAGTTCCCTTTCA	0.428000														52			37		2.35968e-33	3.12209e-33	1	1	0
SPATA5	166378	broad.mit.edu	37	4	124177314	124177314	+	Silent	SNP	C	T	T	rs76934283	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:124177314C>T	uc003iez.4	+	14	2557	c.2484C>T	c.(2482-2484)acC>acT	p.T828T		NM_145207	NP_660208	Q8NB90	SPAT5_HUMAN	Homo sapiens spermatogenesis associated 5 (SPATA5), mRNA.	828					cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						TCCTTCAAACCGACGCATACT	0.448000														38			23		0	0	1	0	0
DNMT3B	1789	broad.mit.edu	37	20	31393213	31393213	+	Splice_Site	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:31393213G>T	uc002wyc.3	+	21	2622	c.2301_splice	c.e21+1	p.K767_splice	DNMT3B_uc002wyd.3_Splice_Site_p.K747_splice|DNMT3B_uc002wye.3_Intron|DNMT3B_uc010ztz.2_Intron|DNMT3B_uc010zua.2_Intron|DNMT3B_uc010gee.3_Splice_Site|DNMT3B_uc010gef.3_Intron|DNMT3B_uc002wyf.3_Splice_Site_p.K759_splice|DNMT3B_uc002wyg.3_Intron|DNMT3B_uc010geg.3_Splice_Site_p.K66_splice|DNMT3B_uc010geh.3_Intron	NM_006892	NP_008823	Q9UBC3	DNM3B_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 3 beta (DNMT3B), transcript variant 1, mRNA.	767					negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GGATAGCCAAGGTAAGACGAG	0.498000														29			21		5.26018e-13	6.52578e-13	1	1	0
EPS8L3	79574	broad.mit.edu	37	1	110293362	110293362	+	Missense_Mutation	SNP	G	A	A	rs78041550		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:110293362G>A	uc001dyr.2	-	17	1915	c.1690C>T	c.(1690-1692)Cct>Tct	p.P564S	EPS8L3_uc001dys.2_Missense_Mutation_p.P534S|EPS8L3_uc001dyq.2_Missense_Mutation_p.P565S|EPS8L3_uc009wfm.2_Missense_Mutation_p.P501S	NM_133181	NP_573444	Q8TE67	ES8L3_HUMAN	Homo sapiens EPS8-like 3 (EPS8L3), transcript variant 2, mRNA.	564						cytoplasm	protein binding			breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)		AGCTCCCCAGGTCTTATGCGA	0.607000														24			26		0	0	1	0	0
ZNF200	7752	broad.mit.edu	37	16	3274160	3274160	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:3274160G>T	uc002cuj.2	-	4	1552	c.920C>A	c.(919-921)cCt>cAt	p.P307H	ZNF200_uc002cum.3_Missense_Mutation_p.P306H|ZNF200_uc002cuk.2_Missense_Mutation_p.P307H|ZNF200_uc010bti.2_Missense_Mutation_p.P306H|ZNF200_uc002cui.2_Missense_Mutation_p.P306H|ZNF200_uc002cul.3_Missense_Mutation_p.P306H	NM_003454	NP_932354	P98182	ZN200_HUMAN	Homo sapiens zinc finger protein 200 (ZNF200), transcript variant 1, mRNA.	307					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(4)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	17						ACAGGAATAAGGTTTCTCTCC	0.388000														104			22		2.32416e-17	2.96135e-17	1	1	0
TBC1D8	11138	broad.mit.edu	37	2	101648805	101648805	+	Nonsense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:101648805C>A	uc010fiv.3	-	10	1947	c.1816G>T	c.(1816-1818)Gag>Tag	p.E606*	TBC1D8_uc002tau.4_Nonsense_Mutation_p.E363*	NM_001102426	NP_001095896	O95759	TBCD8_HUMAN	Homo sapiens TBC1 domain family, member 8 (with GRAM domain) (TBC1D8), mRNA.	606	Rab-GAP TBC.				blood circulation|positive regulation of cell proliferation	intracellular|membrane	Rab GTPase activator activity|calcium ion binding			breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						GCTTCCTCCTCCTTGGTGTAC	0.567000														17			9		9.70103e-10	1.16071e-09	1	1	0
DENND5B	160518	broad.mit.edu	37	12	31605026	31605026	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:31605026G>T	uc001rkh.1	-	6	1733	c.1582C>A	c.(1582-1584)Cta>Ata	p.L528I	DENND5B_uc001rki.1_Missense_Mutation_p.L493I|DENND5B_uc001rkj.3_Missense_Mutation_p.L515I|DENND5B_uc001rkk.1_Missense_Mutation_p.L415I	NM_144973	NP_659410	Q6ZUT9	DEN5B_HUMAN	Homo sapiens DENN/MADD domain containing 5B (DENND5B), mRNA.	493	dDENN.					integral to membrane				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						TAGTCCCTTAGTTCTGCCTCT	0.458000														132			11		3.27435e-08	3.82583e-08	1	1	0
ZNF462	58499	broad.mit.edu	37	9	109689094	109689094	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:109689094G>T	uc004bcz.3	+	2	3190	c.2901G>T	c.(2899-2901)caG>caT	p.Q967H	MIR548Q_uc022bli.1_Intron|ZNF462_uc010mto.3_Missense_Mutation_p.Q815H|ZNF462_uc004bda.3_Missense_Mutation_p.Q815H	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN	Homo sapiens zinc finger protein 462 (ZNF462), mRNA.	967					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						TGGAGCAGCAGGAAGGGCTGA	0.512000														57			4		0.150653	0.152248	1	1	0
PADI2	11240	broad.mit.edu	37	1	17413088	17413088	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:17413088G>A	uc001baf.3	-	6	844	c.762C>T	c.(760-762)ggC>ggT	p.G254G	PADI2_uc010ocm.2_Missense_Mutation_p.A173V|PADI2_uc001bag.1_Silent_p.G254G	NM_007365	NP_031391	Q9Y2J8	PADI2_HUMAN	Homo sapiens peptidyl arginine deiminase, type II (PADI2), mRNA.	254					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	GGAAACAGAGGCCTTCCACGA	0.622000														41			30		0	0	1	0	0
C14orf37	145407	broad.mit.edu	37	14	58471494	58471494	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:58471494C>T	uc010tro.2	-	8	2597	c.2399G>A	c.(2398-2400)cGa>cAa	p.R800Q	C14orf37_uc001xdc.3_Missense_Mutation_p.R762Q|C14orf37_uc001xdd.3_Missense_Mutation_p.R761Q	NM_001001872	NP_001001872	Q86TY3	CN037_HUMAN	Homo sapiens chromosome 14 open reading frame 37 (C14orf37), mRNA.	762						integral to membrane	binding			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						GAGCATTACTCGATCTTGCAT	0.378000														163			12		0	0	1	0	0
RGS3	5998	broad.mit.edu	37	9	116267769	116267769	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:116267769C>T	uc004bhq.3	+	11	1154	c.945C>T	c.(943-945)tgC>tgT	p.C315C	RGS3_uc004bhr.3_Silent_p.C203C|RGS3_uc004bhs.3_Silent_p.C205C|RGS3_uc004bht.3_Silent_p.C34C|RGS3_uc010muy.3_Silent_p.C34C|RGS3_uc004bhu.3_5'UTR	NM_144488	NP_652759	P49796	RGS3_HUMAN	Homo sapiens regulator of G-protein signaling 3 (RGS3), transcript variant 6, mRNA.	315	PDZ.				inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						CCATCTGCTGCGACTCTCCAG	0.577000														10			9		0	0	1	0	0
LRRC8C	84230	broad.mit.edu	37	1	90179921	90179921	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:90179921C>A	uc001dnl.4	+	2	2034	c.1792C>A	c.(1792-1794)Cac>Aac	p.H598N		NM_032270	NP_115646	Q8TDW0	LRC8C_HUMAN	Homo sapiens leucine rich repeat containing 8 family, member C (LRRC8C), mRNA.	598						endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		GGAGCTGGTCCACTGTGACCT	0.463000														63			21		4.35082e-09	5.154e-09	1	1	0
CBLL1	79872	broad.mit.edu	37	7	107399540	107399540	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:107399540C>T	uc003veq.3	+	5	1723	c.1393C>T	c.(1393-1395)Cga>Tga	p.R465*	CBLL1_uc011kme.2_Nonsense_Mutation_p.R344*|CBLL1_uc011kmf.2_Nonsense_Mutation_p.R464*	NM_024814	NP_079090	Q75N03	HAKAI_HUMAN	Homo sapiens Cas-Br-M (murine) ecotropic retroviral transforming sequence-like 1 (CBLL1), transcript variant 1, mRNA.	465	Pro-rich.				cell-cell adhesion|negative regulation of cell adhesion|positive regulation of cell migration|positive regulation of endocytosis		protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(3)	21						ACCACCTCCACGATTGCAGGG	0.488000														119			13		0	0	1	0	0
NEFL	4747	broad.mit.edu	37	8	24811116	24811116	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:24811116C>T	uc003xee.3	-	2	1465	c.1363G>A	c.(1363-1365)Gag>Aag	p.E455K		NM_006158	NP_006149	P07196	NFL_HUMAN	Homo sapiens neurofilament, light polypeptide (NEFL), mRNA.	455	Tail, subdomain B (acidic).|Tail.				anterograde axon cargo transport|axon transport of mitochondrion|neurofilament bundle assembly|retrograde axon cargo transport|synaptic transmission	cytosol|neurofilament	identical protein binding|protein C-terminus binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)	21		Ovarian(32;0.00965)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		ATGGTTTCCTCCACTTCGATC	0.582000														23			18		0	0	1	0	0
ZEB2	9839	broad.mit.edu	37	2	145156357	145156357	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:145156357A>G	uc002tvu.3	-	7	2919	c.2397T>C	c.(2395-2397)agT>agC	p.S799S	ZEB2_uc010zbm.2_Silent_p.S775S|ZEB2_uc002tvv.3_Silent_p.S793S|ZEB2_uc010fnp.3_Intron|ZEB2_uc010fnq.1_Silent_p.S828S	NM_014795	NP_055610	O60315	ZEB2_HUMAN	Homo sapiens zinc finger E-box binding homeobox 2 (ZEB2), transcript variant 1, mRNA.	799						cytoplasm|nucleolus	SMAD binding|phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S798C(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		GAGTGTATGAACTACTGTGGG	0.393000														133			19		0	0	1	0	0
CHST10	9486	broad.mit.edu	37	2	101010027	101010027	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:101010027A>G	uc002tam.3	-	6	1149	c.751T>C	c.(751-753)Tgg>Cgg	p.W251R		NM_004854	NP_004845	O43529	CHSTA_HUMAN	Homo sapiens carbohydrate sulfotransferase 10 (CHST10), mRNA.	251					carbohydrate biosynthetic process|cell adhesion	Golgi membrane|integral to membrane|membrane fraction				breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)	16						AGGTCTAGCCATCTGTGGTTC	0.522000														165			15		0	0	1	0	0
SLC19A1	6573	broad.mit.edu	37	21	46951793	46951793	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:46951793G>A	uc002zhl.2	-	2	612	c.459C>T	c.(457-459)gcC>gcT	p.A153A	SLC19A1_uc010gpy.1_Silent_p.A153A|SLC19A1_uc011aft.2_Silent_p.A113A|SLC19A1_uc002zhm.2_Silent_p.A153A|SLC19A1_uc010gpz.2_Silent_p.A32A	NM_194255	NP_919231	P41440	S19A1_HUMAN	Homo sapiens solute carrier family 19 (folate transporter), member 1 (SLC19A1), transcript variant 1, mRNA.	153					folic acid metabolic process	integral to plasma membrane|membrane fraction	folic acid binding|folic acid transporter activity|methotrexate transporter activity|reduced folate carrier activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10				Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)		GCGAGTAGCCGGCCACACGCT	0.652000														1			2		0	0	1	0	0
DSCAML1	57453	broad.mit.edu	37	11	117308769	117308769	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:117308769C>A	uc001prh.1	-	24	4456	c.4454G>T	c.(4453-4455)aGc>aTc	p.S1485I		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Homo sapiens Down syndrome cell adhesion molecule like 1 (DSCAML1), mRNA.	1425	Fibronectin type-III 6.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	p.S1485R(2)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		CCACTCCTCGCTGTTGTCCAC	0.607000														19			9		0.0135373	0.0139797	1	1	0
MARS	4141	broad.mit.edu	37	12	57905572	57905572	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57905572G>A	uc001sog.3	+	11	1614	c.1460G>A	c.(1459-1461)cGg>cAg	p.R487Q	MARS_uc001sof.1_Non-coding_Transcript|MARS_uc010srp.1_Missense_Mutation_p.R360Q|MARS_uc010srq.1_Missense_Mutation_p.R253Q|MARS_uc001soh.1_5'Flank	NM_004990	NP_004981	P56192	SYMC_HUMAN	Homo sapiens methionyl-tRNA synthetase (MARS), mRNA.	487					methionyl-tRNA aminoacylation	cytosol	ATP binding|methionine-tRNA ligase activity|protein binding|tRNA binding			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	33			GBM - Glioblastoma multiforme(3;4.27e-41)		L-Methionine(DB00134)	TCTTGGCTTCGGGATGGCCTC	0.512000														20			14		0	0	1	0	0
SRSF5	6430	broad.mit.edu	37	14	70237227	70237227	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:70237227C>T	uc001xll.3	+	6	1861	c.410C>T	c.(409-411)gCg>gTg	p.A137V	LOC100289511_uc021rvk.1_5'Flank|SRSF5_uc001xln.1_3'UTR|SRSF5_uc001xlo.3_Missense_Mutation_p.A137V|SRSF5_uc001xlp.3_Missense_Mutation_p.A137V	NM_006925	NP_008856	Q13243	SRSF5_HUMAN	Homo sapiens serine/arginine-rich splicing factor 5 (SRSF5), transcript variant 2, mRNA.	137	RRM 2.				mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription	nuclear speck	RNA binding|nucleotide binding|protein binding			large_intestine(1)|liver(1)	2						GTAACGTTTGCGGATGCACAC	0.373000														53			28		0	0	1	0	0
BCORL1	63035	broad.mit.edu	37	X	129184752	129184752	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:129184752A>G	uc022cdu.1	+	9	4723	c.4679A>G	c.(4678-4680)tAc>tGc	p.Y1560C	BCORL1_uc004evc.2_Missense_Mutation_p.Y396C	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN	Homo sapiens BCL6 corepressor-like 1 (BCORL1), mRNA.	1560					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						TGGGATTTTTACAGCAGTTCT	0.502000														177			21		0	0	1	0	0
TPR	7175	broad.mit.edu	37	1	186330775	186330775	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:186330775G>T	uc001grv.3	-	8	1234	c.937C>A	c.(937-939)Ctt>Att	p.L313I	MIR548F1_uc021pgf.1_Intron|TPR_uc010pop.2_Missense_Mutation_p.L389I	NM_003292	NP_003283	P12270	TPR_HUMAN	Homo sapiens translocated promoter region (to activated MET oncogene) (TPR), mRNA.	313					carbohydrate metabolic process|glucose transport|mRNA transport|mitotic cell cycle spindle assembly checkpoint|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		TCTTTCAAAAGTTTGTGTAGT	0.348000			T	NTRK1	papillary thyroid									55			49		6.3237e-29	8.32713e-29	1	1	0
GAB3	139716	broad.mit.edu	37	X	153940894	153940894	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153940894G>T	uc004fmk.1	-	3	727	c.679C>A	c.(679-681)Ctg>Atg	p.L227M	GAB3_uc004fmj.1_Missense_Mutation_p.L226M|GAB3_uc010nve.1_Missense_Mutation_p.L227M|GAB3_uc004fml.1_Intron	NM_001081573	NP_001075042	Q8WWW8	GAB3_HUMAN	Homo sapiens GRB2-associated binding protein 3 (GAB3), transcript variant 1, mRNA.	226										NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)	25	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					AGCGGCTGCAGGCAGTCAACA	0.547000														52			6		8.12818e-05	8.84769e-05	1	1	0
APP	351	broad.mit.edu	37	21	27372368	27372368	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:27372368T>C	uc002ylz.3	-	6	1195	c.995A>G	c.(994-996)gAc>gGc	p.D332G	APP_uc010glk.3_Missense_Mutation_p.D327G|APP_uc002yma.3_Missense_Mutation_p.D332G|APP_uc011ach.2_Missense_Mutation_p.D276G|APP_uc021whz.1_Missense_Mutation_p.D332G|APP_uc021wia.1_Missense_Mutation_p.D332G|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.	332	BPTI/Kunitz inhibitor.				G2 phase of mitotic cell cycle|Notch signaling pathway|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|innate immune response|ionotropic glutamate receptor signaling pathway|mRNA polyadenylation|mating behavior|neuron apoptosis|neuron remodeling|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	Golgi apparatus|axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|integral to plasma membrane|platelet alpha granule lumen	DNA binding|PTB domain binding|acetylcholine receptor binding|heparin binding|identical protein binding|metal ion binding|protein 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)				CTCTTCTGTGTCAAAGTTGTT	0.557000														12			15		0	0	1	0	0
SMYD4	114826	broad.mit.edu	37	17	1731227	1731227	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:1731227G>A	uc002ftm.4	-	1	230	c.62C>T	c.(61-63)aCg>aTg	p.T21M	RPA1_uc002fto.2_5'Flank	NM_052928	NP_443160	Q8IYR2	SMYD4_HUMAN	Homo sapiens SET and MYND domain containing 4 (SMYD4), mRNA.	21							zinc ion binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(5)|stomach(1)	21						CTGAACAGACGTCGGGAGTGA	0.398000														36			24		0	0	1	0	0
WNK3	65267	broad.mit.edu	37	X	54224904	54224904	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:54224904T>C	uc004dtc.2	-	23	5695	c.5256A>G	c.(5254-5256)gtA>gtG	p.V1752V	WNK3_uc004dtd.2_Silent_p.V1695V	NM_020922	NP_065973	Q9BYP7	WNK3_HUMAN	Homo sapiens WNK lysine deficient protein kinase 3 (WNK3), transcript variant 1, mRNA.	1695					intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						CTACCCACTGTACTGGATACC	0.493000														43			4		0	0	1	0	0
PMS2CL	441194	broad.mit.edu	37	7	6785753	6785753	+	RNA	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:6785753G>A	uc003squ.3	+	10		c.1899G>A			PMS2CL_uc003sqv.1_Non-coding_Transcript					Homo sapiens PMS2 C-terminal like pseudogene (PMS2CL), non-coding RNA.																		TGTTAATGAAGCTGTTCTGAT	0.338000														22			9		0	0	1	0	0
RRAGA	10670	broad.mit.edu	37	9	19050474	19050474	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:19050474A>G	uc003znj.3	+	0	1103	c.817A>G	c.(817-819)Atg>Gtg	p.M273V		NM_006570	NP_006561	Q7L523	RRAGA_HUMAN	Homo sapiens Ras-related GTP binding A (RRAGA), mRNA.	273					apoptosis|cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade|positive regulation of cytolysis|virus-host interaction	Golgi apparatus|lysosome|nucleus	GTP binding|phosphoprotein binding|protein heterodimerization activity|protein homodimerization activity			endometrium(1)|large_intestine(1)|lung(1)	3						TACGTACGTGATGGTGGTCAT	0.512000														85			12		0	0	1	0	0
PPARA	5465	broad.mit.edu	37	22	46614215	46614215	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:46614215G>T	uc003bhb.1	+	3	548	c.425G>T	c.(424-426)aGc>aTc	p.S142I	PPARA_uc003bgw.1_Missense_Mutation_p.S142I|PPARA_uc003bgx.1_Missense_Mutation_p.S142I|PPARA_uc010hab.1_Missense_Mutation_p.S142I|PPARA_uc003bha.3_Missense_Mutation_p.S142I|PPARA_uc010hac.1_Missense_Mutation_p.A7S	NM_005036	NP_005027	Q07869	PPARA_HUMAN	Homo sapiens peroxisome proliferator-activated receptor alpha (PPARA), transcript variant 5, mRNA.	142					fatty acid metabolic process|fatty acid transport|negative regulation of appetite|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fatty acid beta-oxidation|regulation of cellular ketone metabolic process by positive regulation of transcription from an RNA polymerase II promoter|regulation of glycolysis by positive regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|ligand-regulated transcription factor activity|lipid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|ubiquitin conjugating enzyme binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	15		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00522)	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Simvastatin(DB00641)	TGCGACCGCAGCTGCAAGATC	0.493000														54			8		1.06961e-07	1.2399e-07	1	1	0
MAGEA4	4103	broad.mit.edu	37	X	151092966	151092966	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:151092966G>T	uc022cgv.1	+	0	830	c.830G>T	c.(829-831)aGg>aTg	p.R277M	MAGEA4_uc004fez.3_Missense_Mutation_p.R277M|MAGEA4_uc004ffa.3_Missense_Mutation_p.R277M|MAGEA4_uc004ffb.3_Missense_Mutation_p.R277M|MAGEA4_uc022cgu.1_Missense_Mutation_p.R305M|MAGEA4_uc004ffc.3_Missense_Mutation_p.R277M|MAGEA4_uc004ffd.3_Missense_Mutation_p.R277M	NM_002362	NP_002353	P43358	MAGA4_HUMAN	Homo sapiens melanoma antigen family A, 4 (MAGEA4), transcript variant 2, mRNA.	277	MAGE.						protein binding			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)	27	Acute lymphoblastic leukemia(192;6.56e-05)					TGGGGTCCAAGGGCTCTGGCT	0.552000														159			15		0.000219431	0.000236831	1	1	0
MLYCD	23417	broad.mit.edu	37	16	83948828	83948828	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:83948828C>A	uc002fgz.3	+	4	1236	c.1216C>A	c.(1216-1218)Ctg>Atg	p.L406M		NM_012213	NP_036345	O95822	DCMC_HUMAN	Homo sapiens malonyl-CoA decarboxylase (MLYCD), nuclear gene encoding mitochondrial protein, mRNA.	406					acyl-CoA metabolic process|fatty acid biosynthetic process	mitochondrion|peroxisome	malonyl-CoA decarboxylase activity|methylmalonyl-CoA decarboxylase activity			NS(1)|biliary_tract(1)|breast(1)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						CGCCTGGTACCTGTATGGAGA	0.647000														52			31		2.46105e-21	3.1844e-21	1	1	0
KIAA0556	23247	broad.mit.edu	37	16	27751589	27751589	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:27751589C>T	uc002dow.3	+	14	1995	c.1971C>T	c.(1969-1971)ctC>ctT	p.L657L		NM_015202	NP_056017	O60303	K0556_HUMAN	Homo sapiens KIAA0556 (KIAA0556), mRNA.	657										breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						AGCTTGGTCTCGGTTGCTCAC	0.502000														44			6		0	0	1	0	0
EIF2C1	26523	broad.mit.edu	37	1	36367872	36367872	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:36367872T>C	uc001bzl.3	+	10	1544	c.1331T>C	c.(1330-1332)aTt>aCt	p.I444T	EIF2C1_uc001bzk.3_Missense_Mutation_p.I369T|EIF2C1_uc009vuy.3_Intron	NM_012199	NP_036331	Q9UL18	AGO1_HUMAN	Homo sapiens eukaryotic translation initiation factor 2C, 1 (EIF2C1), mRNA.	444					negative regulation of translation involved in gene silencing by miRNA|nuclear-transcribed mRNA catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|polysome	RNA binding|protein binding	p.G443V(1)		biliary_tract(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|prostate(1)|skin(6)|urinary_tract(1)	36		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TACAATGGGATTGAGATCAAA	0.577000														50			32		0	0	1	0	0
OR2G2	81470	broad.mit.edu	37	1	247751701	247751701	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:247751701G>T	uc010pyy.2	+	0	40	c.40G>T	c.(40-42)Ggt>Tgt	p.G14C		NM_001001915	NP_001001915	Q8NGZ5	OR2G2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 2 (OR2G2), mRNA.	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A13T(1)		endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			CAACCTAGCAGGTTTCATCCT	0.403000														60			52		3.10996e-30	4.10341e-30	1	1	0
C9orf84	158401	broad.mit.edu	37	9	114467552	114467552	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:114467552C>T	uc004bfr.3	-	18	2773	c.2638G>A	c.(2638-2640)Gac>Aac	p.D880N	C9orf84_uc011lwt.2_Non-coding_Transcript|C9orf84_uc004bfq.3_Missense_Mutation_p.D841N|C9orf84_uc010mug.3_Missense_Mutation_p.D791N	NM_173521	NP_775792	Q5VXU9	CI084_HUMAN	Homo sapiens chromosome 9 open reading frame 84 (C9orf84), transcript variant 1, mRNA.	880										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						TGAAGTATGTCTGGAGTATTA	0.338000														43			11		0	0	1	0	0
CALD1	800	broad.mit.edu	37	7	134644788	134644788	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:134644788G>A	uc003vrz.3	+	11	2591	c.2125G>A	c.(2125-2127)Gta>Ata	p.V709I	CALD1_uc003vry.3_Missense_Mutation_p.V454I|CALD1_uc003vsb.3_Missense_Mutation_p.V454I|CALD1_uc011kpt.2_Missense_Mutation_p.V228I|CALD1_uc010lmm.3_Missense_Mutation_p.V479I|CALD1_uc003vsc.3_Missense_Mutation_p.V474I|CALD1_uc003vsd.3_Missense_Mutation_p.V448I|CALD1_uc011kpu.2_Missense_Mutation_p.V459I|CALD1_uc011kpv.2_Missense_Mutation_p.V318I|CALD1_uc003vse.3_Missense_Mutation_p.V572I|CALD1_uc010lmn.3_Non-coding_Transcript	NM_033138	NP_149129	Q05682	CALD1_HUMAN	Homo sapiens caldesmon 1 (CALD1), transcript variant 1, mRNA.	709					cellular component movement|muscle contraction	cytosol|focal adhesion|myofibril	actin binding|calmodulin binding|myosin binding|tropomyosin binding			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						TGCTGAAGGTGTACGCAACAT	0.458000														78			7		0	0	1	0	0
TNC	3371	broad.mit.edu	37	9	117825213	117825213	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:117825213G>A	uc004bjj.4	-	12	4428	c.4016C>T	c.(4015-4017)gCt>gTt	p.A1339V	TNC_uc010mvf.3_Missense_Mutation_p.A1339V|TNC_uc022bmj.1_Intron	NM_002160	NP_002151	P24821	TENA_HUMAN	Homo sapiens tenascin C (TNC), mRNA.	1339	Fibronectin type-III 8.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						GACCTCTACAGCAAGGGGTCG	0.567000														12			11		0	0	1	0	0
ATP8B1	5205	broad.mit.edu	37	18	55328429	55328429	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:55328429G>T	uc002lgw.3	-	21	2804	c.2684C>A	c.(2683-2685)gCc>gAc	p.A895D	LOC100505549_uc002lgu.2_Intron|LOC100505549_uc002lgv.1_Intron	NM_005603	NP_005594	O43520	AT8B1_HUMAN	Homo sapiens ATPase, aminophospholipid transporter, class I, type 8B, member 1 (ATP8B1), mRNA.	895					ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				CACGTCATTGGCCCCATCTCC	0.567000														23			12		1.5842e-08	1.86177e-08	1	1	0
PCSK5	5125	broad.mit.edu	37	9	78923581	78923581	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:78923581C>A	uc004akc.2	+	27	4082	c.3544C>A	c.(3544-3546)Cct>Act	p.P1182T		NM_001190482	NP_001177411	Q92824	PCSK5_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 5 (PCSK5), transcript variant 1, mRNA.	901					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	Golgi lumen|extracellular space|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						AAAACTCCAGCCTTGTCATTC	0.423000														16			11		2.80697e-09	3.3309e-09	1	1	0
JHDM1D	80853	broad.mit.edu	37	7	139796538	139796538	+	Nonsense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:139796538C>A	uc003vvm.3	-	16	2195	c.2191G>T	c.(2191-2193)Gag>Tag	p.E731*	JHDM1D_uc010lng.3_Non-coding_Transcript	NM_030647	NP_085150	Q6ZMT4	KDM7_HUMAN	Homo sapiens jumonji C domain containing histone demethylase 1 homolog D (S. cerevisiae) (JHDM1D), mRNA.	731					midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					GCTTCTTCCTCTGTGCTCGTC	0.393000														93			13		0.000219431	0.000236831	1	1	0
LCMT1	51451	broad.mit.edu	37	16	25180518	25180518	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:25180518A>C	uc002dnx.1	+	7	934	c.776A>C	c.(775-777)aAg>aCg	p.K259T	LCMT1_uc002dny.1_Missense_Mutation_p.K204T	NM_016309	NP_057393	Q9UIC8	LCMT1_HUMAN	Homo sapiens leucine carboxyl methyltransferase 1 (LCMT1), transcript variant 1, mRNA.	259							S-adenosylmethionine-dependent methyltransferase activity|protein C-terminal carboxyl O-methyltransferase activity|protein binding								GBM - Glioblastoma multiforme(48;0.0336)	L-Leucine(DB00149)	GAGACCTGCAAGTCATTAGAG	0.493000														107			10		0	0	1	0	0
KLHL2	11275	broad.mit.edu	37	4	166226860	166226860	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:166226860C>T	uc003irb.3	+	8	1281	c.1022C>T	c.(1021-1023)tCc>tTc	p.S341F	KLHL2_uc011cjm.2_Missense_Mutation_p.S345F|KLHL2_uc003irc.3_Missense_Mutation_p.S253F|KLHL2_uc010ira.3_Intron	NM_007246	NP_001154994	O95198	KLHL2_HUMAN	Homo sapiens kelch-like 2, Mayven (Drosophila) (KLHL2), transcript variant 1, mRNA.	341					intracellular protein transport	actin cytoskeleton|cytoplasm	actin binding|transporter activity			endometrium(3)|large_intestine(5)|lung(4)|prostate(1)|urinary_tract(1)	14	all_hematologic(180;0.221)			GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927)		GAGTTGCCTTCCAGGAGGTGC	0.463000														73			37		0	0	1	0	0
LARS2	23395	broad.mit.edu	37	3	45441826	45441826	+	Silent	SNP	C	T	T	rs140105027	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:45441826C>T	uc003cop.1	+	3	509	c.324C>T	c.(322-324)agC>agT	p.S108S	LARS2_uc010hit.1_Intron	NM_015340	NP_056155	Q15031	SYLM_HUMAN	Homo sapiens leucyl-tRNA synthetase 2, mitochondrial (LARS2), nuclear gene encoding mitochondrial protein, mRNA.	108					leucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|leucine-tRNA ligase activity			endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372)	L-Leucine(DB00149)	ACACCATCAGCGACACCATAG	0.507000														42			37		0	0	1	0	0
SLC2A11	66035	broad.mit.edu	37	22	24220040	24220040	+	Silent	SNP	C	T	T	rs145179201	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:24220040C>T	uc011ajc.1	+	5	1180	c.690C>T	c.(688-690)acC>acT	p.T230T	SLC2A11_uc002zyl.1_Silent_p.T230T|SLC2A11_uc002zym.4_Silent_p.T230T|SLC2A11_uc002zyn.4_Silent_p.T223T|SLC2A11_uc002zyo.4_Intron|SLC2A11_uc002zyp.4_Silent_p.T226T			Q9BYW1	GTR11_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 11 (SLC2A11), transcript variant 1, mRNA.	223						integral to membrane|plasma membrane	sugar transmembrane transporter activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(2)	12						GTGGAGACACCGAGGCCTGCC	0.637000														11			3		0	0	1	0	0
CNTN3	5067	broad.mit.edu	37	3	74347325	74347325	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:74347325T>C	uc003dpm.1	-	16	2264	c.2184A>G	c.(2182-2184)ctA>ctG	p.L728L		NM_020872	NP_065923	Q9P232	CNTN3_HUMAN	Homo sapiens contactin 3 (plasmacytoma associated) (CNTN3), mRNA.	728	Fibronectin type-III 2.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		CACCATTCTGTAGTTCTTCAG	0.463000														12			18		0	0	1	0	0
ATP10D	57205	broad.mit.edu	37	4	47593308	47593308	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:47593308C>A	uc003gxk.1	+	22	4355	c.4191C>A	c.(4189-4191)aaC>aaA	p.N1397K	ATP10D_uc003gxl.1_Missense_Mutation_p.N645K	NM_020453	NP_065186	Q9P241	AT10D_HUMAN	Homo sapiens ATPase, class V, type 10D (ATP10D), mRNA.	1397					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						AGCAAGGAAACTTATCTCTGT	0.463000														136			42		5.34276e-22	6.93187e-22	1	1	0
APOBEC3D	140564	broad.mit.edu	37	22	39421198	39421198	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:39421198T>C	uc003awt.4	+	2	741	c.334T>C	c.(334-336)Tgt>Cgt	p.C112R	APOBEC3D_uc021wpq.1_Missense_Mutation_p.C112R|APOBEC3D_uc010gxu.3_Intron|APOBEC3D_uc003awu.4_Intron	NM_152426	NP_689639	Q96AK3	ABC3D_HUMAN	Homo sapiens apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D (APOBEC3D), mRNA.	112					negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)	11	Melanoma(58;0.04)					CTGCCTGCCCTGTGTGGTGAA	0.552000														96			14		0	0	1	0	0
ZKSCAN2	342357	broad.mit.edu	37	16	25258112	25258112	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:25258112C>A	uc002dod.4	-	4	1812	c.1405G>T	c.(1405-1407)Gat>Tat	p.D469Y	ZKSCAN2_uc010vcl.2_Missense_Mutation_p.D265Y|ZKSCAN2_uc002doe.2_Missense_Mutation_p.D469Y	NM_001012981	NP_001012999	Q63HK3	ZKSC2_HUMAN	Homo sapiens zinc finger with KRAB and SCAN domains 2 (ZKSCAN2), mRNA.	469					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		TCATCAGAATCTTCTGCAGCT	0.443000														126			14		3.35478e-16	4.24589e-16	1	1	0
HEATR6	63897	broad.mit.edu	37	17	58125691	58125691	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:58125691G>T	uc002iyk.1	-	16	2623	c.2606C>A	c.(2605-2607)tCt>tAt	p.S869Y	HEATR6_uc010ddk.1_Missense_Mutation_p.S408Y|HEATR6_uc010wos.1_Missense_Mutation_p.S589Y	NM_022070	NP_071353	Q6AI08	HEAT6_HUMAN	Homo sapiens HEAT repeat containing 6 (HEATR6), mRNA.	869							binding			NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			AACATTCAGAGACTTGTCTTC	0.453000														18			10		1.58986e-06	1.80238e-06	1	1	0
CUL7	9820	broad.mit.edu	37	6	43010902	43010902	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:43010902G>A	uc003otq.3	-	17	3704	c.3372C>T	c.(3370-3372)agC>agT	p.S1124S	CUL7_uc010jyg.3_Silent_p.S403S|CUL7_uc011dvb.2_Silent_p.S1208S|KLC4_uc003otr.1_Non-coding_Transcript	NM_014780	NP_055595	Q14999	CUL7_HUMAN	Homo sapiens cullin 7 (CUL7), transcript variant 2, mRNA.	1124					interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			TCCAGTCGTGGCTTCTGTTTC	0.617000														16			13		0	0	1	0	0
TRAFD1	10906	broad.mit.edu	37	12	112572608	112572608	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:112572608G>A	uc001ttp.3	+	2	200	c.114G>A	c.(112-114)atG>atA	p.M38I	TRAFD1_uc001tto.3_Missense_Mutation_p.M38I|TRAFD1_uc009zwb.2_Missense_Mutation_p.M38I|TRAFD1_uc010syj.1_Non-coding_Transcript	NM_006700	NP_006691	O14545	TRAD1_HUMAN	Homo sapiens TRAF-type zinc finger domain containing 1 (TRAFD1), transcript variant 2, mRNA.	38					negative regulation of innate immune response	intracellular	protein binding|zinc ion binding			kidney(5)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	17						ACATTGGTATGTGTCCTACCT	0.408000														124			10		0	0	1	0	0
CABIN1	23523	broad.mit.edu	37	22	24451535	24451535	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:24451535G>A	uc002zzi.1	+	8	1133	c.1006G>A	c.(1006-1008)Gcc>Acc	p.A336T	CABIN1_uc021wnc.1_Missense_Mutation_p.A286T|CABIN1_uc002zzj.1_Missense_Mutation_p.A286T|CABIN1_uc002zzl.2_Missense_Mutation_p.A336T|CABIN1_uc010guk.1_Missense_Mutation_p.A291T|CABIN1_uc002zzk.2_Missense_Mutation_p.A291T	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN	Homo sapiens calcineurin binding protein 1 (CABIN1), transcript variant 2, mRNA.	336					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						TGTGGCTGTCGCCGAGCCTGT	0.612000														32			16		0	0	1	0	0
UGT3A1	133688	broad.mit.edu	37	5	35954517	35954517	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:35954517C>A	uc003jjv.2	-	6	1552	c.1359G>T	c.(1357-1359)caG>caT	p.Q453H	UGT3A1_uc003jjw.2_Non-coding_Transcript	NM_152404	NP_689617	Q6NUS8	UD3A1_HUMAN	Homo sapiens UDP glycosyltransferase 3 family, polypeptide A1 (UGT3A1), transcript variant 1, mRNA.	453						integral to membrane	glucuronosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CCACCAGCCGCTGTGCGGGGC	0.612000														20			10		0.000219431	0.000236831	1	1	0
DYNC1H1	1778	broad.mit.edu	37	14	102477134	102477134	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:102477134C>T	uc001yks.2	+	31	6627	c.6463C>T	c.(6463-6465)Ccg>Tcg	p.P2155S		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	Homo sapiens dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1), mRNA.	2155					G2/M transition of mitotic cell cycle|cytoplasmic mRNA processing body assembly|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	Golgi apparatus|centrosome|cytoplasmic dynein complex|cytosol|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	p.P2155P(1)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						AGAGGACATCCCGCTGCTCTT	0.582000														41			17		0	0	1	0	0
IFNW1	3467	broad.mit.edu	37	9	21141206	21141206	+	Missense_Mutation	SNP	A	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:21141206A>T	uc003zol.1	-	0	939	c.364T>A	c.(364-366)Tgc>Agc	p.C122S		NM_002177	NP_002168	P05000	IFNW1_HUMAN	Homo sapiens interferon, omega 1 (IFNW1), mRNA.	122					cell cycle arrest|defense response|response to virus	extracellular space	cytokine activity|cytokine receptor binding			endometrium(1)|kidney(1)|lung(2)|ovary(1)	5				GBM - Glioblastoma multiforme(5;2.35e-185)|Lung(24;2.24e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		TGCAGCAAGCAGGTCTCCAGG	0.557000														32			20		0	0	1	0	0
MED12L	116931	broad.mit.edu	37	3	150877651	150877651	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:150877651G>A	uc003eyp.3	+	6	999	c.870G>A	c.(868-870)ctG>ctA	p.L290L	MED12L_uc011bnz.2_Intron|MED12L_uc003eyn.3_Silent_p.L290L|MED12L_uc003eyo.3_Silent_p.L290L	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	Homo sapiens mediator complex subunit 12-like (MED12L), mRNA.	290					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CGGCCTACCTGTCTCGTCGTC	0.483000														114			90		0	0	1	0	0
FTCD	10841	broad.mit.edu	37	21	47570386	47570386	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:47570386G>A	uc002zig.3	-	5	734	c.690C>T	c.(688-690)aaC>aaT	p.N230N	FTCD_uc002zif.3_Silent_p.N230N|FTCD_uc002zih.3_Silent_p.N230N|FTCD_uc010gqf.3_Silent_p.N230N|FTCD_uc010gqg.1_Silent_p.N99N			O95954	FTCD_HUMAN	Homo sapiens formiminotransferase cyclodeaminase (FTCD), transcript variant B, mRNA.	230	Formiminotransferase C-subdomain (By similarity).				folic acid-containing compound metabolic process|histidine catabolic process	Golgi apparatus|centriole|cytosol	folic acid binding|formimidoyltetrahydrofolate cyclodeaminase activity|glutamate formimidoyltransferase activity			endometrium(1)|large_intestine(2)|lung(9)|pancreas(1)|prostate(3)|skin(3)	19	Breast(49;0.214)			Colorectal(79;0.235)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	CCTGAGCCAGGTTCTTCTCAT	0.577000														51			48		0	0	1	0	0
FAM48B2	170067	broad.mit.edu	37	X	24331366	24331366	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:24331366G>A	uc011mjw.2	-	0	67	c.67C>T	c.(67-69)Cgt>Tgt	p.R23C		NM_001136233	NP_001129705	P0C7V6	F48B2_HUMAN	Homo sapiens family with sequence similarity 48, member B2 (FAM48B2), mRNA.	23										breast(1)|endometrium(4)|large_intestine(1)|liver(1)|lung(12)|ovary(2)|prostate(1)|skin(1)	23						CTTCTAGGACGTCTCTGTTGG	0.443000														61			36		0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216052354	216052354	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:216052354A>G	uc001hku.1	-	41	8697	c.8310T>C	c.(8308-8310)aaT>aaC	p.N2770N		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	2770	Fibronectin type-III 14.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CGGAAGTCACATTGGTTAAAG	0.428000										HNSCC(13;0.011)				139			11		0	0	1	0	0
C2orf40	84417	broad.mit.edu	37	2	106690484	106690484	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:106690484G>A	uc010fjf.3	+	2	378	c.270G>A	c.(268-270)atG>atA	p.M90I		NM_032411	NP_115787	Q9H1Z8	AUGN_HUMAN	Homo sapiens chromosome 2 open reading frame 40 (C2orf40), mRNA.	90						extracellular region|transport vesicle				lung(7)|urinary_tract(1)	8						TTCTCTACATGGGCTTTGACG	0.617000														53			17		0	0	1	0	0
OBFC1	79991	broad.mit.edu	37	10	105677256	105677256	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:105677256C>T	uc001kxl.3	-	0	172	c.97G>A	c.(97-99)Gat>Aat	p.D33N	OBFC1_uc001kxm.3_Missense_Mutation_p.D33N	NM_024928	NP_079204	Q9H668	STN1_HUMAN	Homo sapiens oligonucleotide/oligosaccharide-binding fold containing 1 (OBFC1), mRNA.	33					positive regulation of DNA replication|telomere maintenance via telomere lengthening		protein binding|single-stranded telomeric DNA binding			large_intestine(3)|lung(7)|ovary(1)|pancreas(2)	13		Colorectal(252;0.178)		Epithelial(162;3.39e-10)|all cancers(201;1.32e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0151)		TCCAGGATATCCCTGATGTAG	0.562000														29			23		0	0	1	0	0
ITSN1	6453	broad.mit.edu	37	21	35169735	35169735	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:35169735G>A	uc002yta.1	+	17	2273	c.2005G>A	c.(2005-2007)Gag>Aag	p.E669K	DONSON_uc002ysn.1_Intron|ITSN1_uc010gmj.3_Missense_Mutation_p.E553K|ITSN1_uc002ysy.3_Missense_Mutation_p.E669K|ITSN1_uc002ysx.3_Missense_Mutation_p.E632K|ITSN1_uc002yth.4_Non-coding_Transcript|ITSN1_uc002ysz.3_Missense_Mutation_p.E669K|ITSN1_uc010gmg.3_Missense_Mutation_p.E632K|ITSN1_uc010gmh.3_Non-coding_Transcript|ITSN1_uc002ysw.3_Missense_Mutation_p.E669K|ITSN1_uc010gmi.3_Missense_Mutation_p.E632K|ITSN1_uc002ytb.1_Missense_Mutation_p.E669K|ITSN1_uc002ytc.1_Missense_Mutation_p.E669K|ITSN1_uc010gmk.3_Missense_Mutation_p.E632K|ITSN1_uc010gml.3_Non-coding_Transcript|ITSN1_uc002ytd.3_Non-coding_Transcript|ITSN1_uc002ytj.2_Missense_Mutation_p.E669K|ITSN1_uc010gmm.1_Non-coding_Transcript|ITSN1_uc002yte.3_Missense_Mutation_p.E603K|ITSN1_uc021wip.1_Missense_Mutation_p.E563K	NM_003024	NP_003015	Q15811	ITSN1_HUMAN	Homo sapiens intersectin 1 (SH3 domain protein) (ITSN1), transcript variant 1, mRNA.	669	KLERQ.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	Rho guanyl-nucleotide exchange factor activity|calcium ion binding|proline-rich region binding|protein complex scaffold			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						GCAGGAGGACGAGCATCAGAG	0.478000														100			10		0	0	1	0	0
PSD2	84249	broad.mit.edu	37	5	139216472	139216472	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:139216472C>T	uc003leu.1	+	9	1685	c.1480C>T	c.(1480-1482)Cga>Tga	p.R494*		NM_032289	NP_115665	Q9BQI7	PSD2_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 2 (PSD2), mRNA.	494					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	p.T493M(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAAGGTGACGCGAATCCTGGA	0.577000														62			39		0	0	1	0	0
BDNF	627	broad.mit.edu	37	11	27679427	27679427	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:27679427G>A	uc001mrv.3	-	1	1043	c.685C>T	c.(685-687)Cga>Tga	p.R229*	BDNF-AS_uc009yip.3_Intron|BDNF-AS_uc001mrn.3_Intron|BDNF-AS_uc001mro.3_Intron|BDNF-AS_uc001mrm.3_Intron|BDNF-AS_uc009yiq.3_Intron|BDNF-AS_uc001mrp.3_Intron|BDNF-AS_uc009yij.3_Intron|BDNF-AS_uc009yik.3_Intron|BDNF-AS_uc009yil.3_Intron|BDNF-AS_uc009yin.3_Intron|BDNF-AS_uc009yio.3_Intron|BDNF-AS_uc009yim.3_Intron|BDNF-AS_uc009yir.3_Intron|BDNF-AS_uc009yis.3_Intron|BDNF-AS_uc009yiu.3_Intron|BDNF-AS_uc009yix.3_Intron|BDNF-AS_uc009yiy.3_Intron|BDNF-AS_uc001mrq.4_Intron|BDNF-AS_uc009yiw.3_Intron|BDNF-AS_uc009yiz.3_Intron|BDNF-AS_uc001mrr.4_Intron|BDNF-AS_uc009yit.3_Intron|BDNF-AS_uc009yiv.3_Intron|BDNF-AS_uc009yja.3_Intron|BDNF-AS_uc009yjb.3_Intron|BDNF_uc021qff.1_Nonsense_Mutation_p.R229*|BDNF_uc010rdu.2_Nonsense_Mutation_p.R229*|BDNF_uc001mrt.3_Nonsense_Mutation_p.R244*|BDNF_uc010rdw.2_Nonsense_Mutation_p.R229*|BDNF_uc009yjd.3_Nonsense_Mutation_p.R229*|BDNF_uc001mru.3_Nonsense_Mutation_p.R229*|BDNF_uc010rdx.2_Nonsense_Mutation_p.R229*|BDNF_uc009yjf.3_Nonsense_Mutation_p.R258*|BDNF_uc010rdy.2_Nonsense_Mutation_p.R229*|BDNF_uc009yjg.3_Nonsense_Mutation_p.R229*|BDNF_uc009yje.3_Nonsense_Mutation_p.R311*|BDNF_uc001mrw.4_Nonsense_Mutation_p.R229*|BDNF_uc001mry.4_Nonsense_Mutation_p.R229*|BDNF_uc001mrz.4_Nonsense_Mutation_p.R229*|BDNF_uc001mrx.3_Nonsense_Mutation_p.R229*|BDNF_uc001msa.3_Nonsense_Mutation_p.R237*	NM_170733	NP_733931	P23560	BDNF_HUMAN	Homo sapiens brain-derived neurotrophic factor (BDNF), transcript variant 5, mRNA.	229						extracellular region	growth factor activity			breast(1)|large_intestine(3)|lung(2)	6						CTTATGAATCGCCAGCCAATT	0.423000														128			7		0	0	1	0	0
ANKRD29	147463	broad.mit.edu	37	18	21209871	21209871	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:21209871C>A	uc002kun.3	-	5	629	c.474G>T	c.(472-474)ttG>ttT	p.L158F	ANKRD29_uc002kuo.3_Missense_Mutation_p.L158F	NM_173505	NP_775776	Q8N6D5	ANR29_HUMAN	Homo sapiens ankyrin repeat domain 29 (ANKRD29), mRNA.	158										breast(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)	13	all_cancers(21;5.07e-05)|all_epithelial(16;2.49e-07)|Lung NSC(20;0.00211)|all_lung(20;0.00676)|Colorectal(14;0.0202)|Ovarian(20;0.127)					GAATAACATCCAAGTAACCAC	0.453000														19			8		0.000274275	0.000294507	1	1	0
REXO1	57455	broad.mit.edu	37	19	1821569	1821569	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:1821569C>T	uc002lua.4	-	4	2438	c.2343G>A	c.(2341-2343)aaG>aaA	p.K781K	REXO1_uc010dsq.3_Silent_p.K90K|REXO1_uc010xgs.1_5'UTR|REXO1_uc010dsp.1_5'Flank|LOC100288123_uc002lub.1_5'Flank	NM_020695	NP_065746	Q8N1G1	REXO1_HUMAN	Homo sapiens REX1, RNA exonuclease 1 homolog (S. cerevisiae) (REXO1), mRNA.	781						nucleus	exonuclease activity|nucleic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGTGGTAGTCTTGGACGCCA	0.632000														66			39		0	0	1	0	0
TBC1D19	55296	broad.mit.edu	37	4	26750113	26750113	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:26750113G>T	uc003gsf.4	+	18	1670	c.1400G>T	c.(1399-1401)aGa>aTa	p.R467I	TBC1D19_uc010iew.3_Missense_Mutation_p.R467I|TBC1D19_uc011bxu.2_Missense_Mutation_p.R402I	NM_018317	NP_060787	Q8N5T2	TBC19_HUMAN	Homo sapiens TBC1 domain family, member 19 (TBC1D19), mRNA.	467	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			breast(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	17		Breast(46;0.0503)				TTATGGGATAGAATCCTAGGA	0.368000														92			36		6.97489e-18	8.91555e-18	1	1	0
TNXB	7148	broad.mit.edu	37	6	32040067	32040067	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:32040067G>T	uc003nzl.2	-	12	4892	c.4690C>A	c.(4690-4692)Cca>Aca	p.P1564T		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	1649	Fibronectin type-III 8.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GGGGCTGGTGGGAGGGGAGCT	0.607000														22			5		1.23904e-05	1.3743e-05	1	1	0
CHRM5	1133	broad.mit.edu	37	15	34355585	34355585	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:34355585C>T	uc001zhk.1	+	2	1337	c.667C>T	c.(667-669)Cga>Tga	p.R223*	CHRM5_uc001zhl.1_Nonsense_Mutation_p.R223*|CHRM5_uc021sir.1_Nonsense_Mutation_p.R223*	NM_012125	NP_036257	P08912	ACM5_HUMAN	Homo sapiens cholinergic receptor, muscarinic 5 (CHRM5), mRNA.	223					cell proliferation|inhibition of adenylate cyclase activity by muscarinic acetylcholine receptor signaling pathway	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	20		all_lung(180;1.76e-08)		all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)	AACAGAGAAGCGAACCAAGGA	0.527000														166			8		0	0	1	0	0
CELA1	1990	broad.mit.edu	37	12	51736377	51736377	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:51736377C>T	uc001ryi.1	-	3	349	c.308G>A	c.(307-309)aGc>aAc	p.S103N		NM_001971	NP_001962	Q9UNI1	CELA1_HUMAN	Homo sapiens chymotrypsin-like elastase family, member 1 (CELA1), mRNA.	103	Peptidase S1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity	p.S103N(2)		NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	15						CACGTTATCGCTGTTCCAGTA	0.572000														57			36		0	0	1	0	0
RHOC	389	broad.mit.edu	37	1	113244177	113244177	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:113244177G>A	uc001ecp.1	-	5	867	c.567C>T	c.(565-567)ggC>ggT	p.G189G	RHOC_uc001ecq.1_Silent_p.G189G|RHOC_uc001ecr.1_Silent_p.G189G|RHOC_uc009wgk.1_Silent_p.G189G	NM_001042679	NP_786886	P08134	RHOC_HUMAN	Homo sapiens ras homolog gene family, member C (RHOC), transcript variant 3, mRNA.	189					axon guidance|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity|signal transducer activity			endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	9	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAATGGGACAGCCCCTCCGAC	0.602000														41			29		0	0	1	0	0
HLCS	3141	broad.mit.edu	37	21	38309235	38309235	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:38309235G>A	uc010gnb.3	-	4	1924	c.510C>T	c.(508-510)tcC>tcT	p.S170S	HLCS_uc021wjb.1_Silent_p.S170S|HLCS_uc002yvs.3_Silent_p.S170S|HLCS_uc010gnc.2_Silent_p.S317S	NM_001242784	NP_001229713	P50747	BPL1_HUMAN	Homo sapiens holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase) (HLCS), transcript variant 3, mRNA.	170					cell proliferation|histone biotinylation|response to biotin	chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix	ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(46;0.0422)			Biotin(DB00121)	CCTGGGAGTCGGAGCCCACAT	0.577000														24			18		0	0	1	0	0
SPECC1	92521	broad.mit.edu	37	17	20108498	20108498	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:20108498A>G	uc002gwq.3	+	3	1246	c.1136A>G	c.(1135-1137)aAg>aGg	p.K379R	SPECC1_uc010cqx.3_Missense_Mutation_p.K379R|SPECC1_uc002gwr.3_Missense_Mutation_p.K379R|SPECC1_uc002gws.3_Missense_Mutation_p.K379R|SPECC1_uc002gwv.3_Missense_Mutation_p.K298R|SPECC1_uc010vzf.2_Intron|SPECC1_uc002gwu.3_Missense_Mutation_p.K298R|SPECC1_uc002gwt.3_Missense_Mutation_p.K298R	NM_001243439	NP_001230368	Q5M775	CYTSB_HUMAN	Homo sapiens sperm antigen with calponin homology and coiled-coil domains 1 (SPECC1), transcript variant 6, mRNA.	379						nucleus				breast(1)|large_intestine(3)|ovary(4)	8				KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)		AAGATACAAAAGATGGAAGAA	0.433000														102			7		0	0	1	0	0
SCN8A	6334	broad.mit.edu	37	12	52183122	52183122	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:52183122T>C	uc001ryw.3	+	23	4517	c.4339T>C	c.(4339-4341)Ttc>Ctc	p.F1447L	SCN8A_uc010snl.2_Missense_Mutation_p.F1406L	NM_014191	NP_055006	Q9UQD0	SCN8A_HUMAN	Homo sapiens sodium channel, voltage gated, type VIII, alpha subunit (SCN8A), transcript variant 1, mRNA.	1447					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	TTTTGTCATCTTCATCATCTT	0.403000														28			24		0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103132400	103132400	+	Splice_Site	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:103132400C>T	uc022ajr.1	-	58	9603	c.9443_splice	c.e58+1	p.R3148_splice	RELN_uc022ajq.1_Splice_Site_p.R3148_splice|RELN_uc010liz.3_Splice_Site_p.R3148_splice	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	3148					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TTTCACAAACCTTGCATCCTT	0.388000														17			7		0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100373104	100373104	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100373104G>T	uc003uwj.3	+	32	6096	c.5931G>T	c.(5929-5931)aaG>aaT	p.K1977N	ZAN_uc003uwk.3_Missense_Mutation_p.K1977N|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript|ZAN_uc011kke.2_Missense_Mutation_p.K65N	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	1978	VWFD 3.				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			AGCATGAGAAGGAGGAAGGTG	0.557000														23			10		0.361761	0.362901	1	1	0
RAB11FIP3	9727	broad.mit.edu	37	16	570584	570584	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:570584C>T	uc002chf.3	+	12	2481	c.2142C>T	c.(2140-2142)tcC>tcT	p.S714S	RAB11FIP3_uc010uuf.2_Silent_p.S418S|RAB11FIP3_uc010uug.2_Silent_p.S449S	NM_014700	NP_055515	O75154	RFIP3_HUMAN	Homo sapiens RAB11 family interacting protein 3 (class II) (RAB11FIP3), transcript variant 1, mRNA.	714	FIP-RBD.				cell cycle|cytokinesis|endocytic recycling|protein transport	centrosome|cleavage furrow|midbody|recycling endosome membrane	ADP-ribosylation factor binding|Rab GTPase binding|calcium ion binding|protein homodimerization activity			breast(1)|endometrium(2)|kidney(3)|lung(5)|upper_aerodigestive_tract(1)	12		Hepatocellular(16;0.0218)				AGATCAGCTCCGTCTCCCGAG	0.597000														56			50		0	0	1	0	0
NDUFA10	4705	broad.mit.edu	37	2	240944661	240944661	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:240944661G>A	uc010fzc.2	-	8	1047	c.946C>T	c.(946-948)Cag>Tag	p.Q316*	NDUFA10_uc002vyn.3_Nonsense_Mutation_p.Q286*	NM_004544	NP_004535	O95299	NDUAA_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa (NDUFA10), nuclear gene encoding mitochondrial protein, mRNA.	286					mitochondrial electron transport, NADH to ubiquinone|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transport	mitochondrial matrix|mitochondrial respiratory chain complex I	ATP binding|NADH dehydrogenase (ubiquinone) activity|phosphotransferase activity, alcohol group as acceptor	p.P315Q(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)	16		all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202)	NADH(DB00157)	CGATTGTCCTGCTTGAGCCAC	0.458000														93			10		0	0	1	0	0
RNF150	57484	broad.mit.edu	37	4	141832500	141832500	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:141832500G>A	uc003iio.1	-	5	1650	c.996C>T	c.(994-996)gcC>gcT	p.A332A	RNF150_uc010iok.1_Silent_p.A290A|RNF150_uc003iip.1_Silent_p.A332A	NM_020724	NP_065775	Q9ULK6	RN150_HUMAN	Homo sapiens ring finger protein 150 (RNF150), mRNA.	332						integral to membrane	zinc ion binding			breast(1)|large_intestine(10)|lung(7)|ovary(1)	19	all_hematologic(180;0.162)					CCATGCAGTCGGCATTGGGCT	0.478000														18			10		0	0	1	0	0
ASIC2	40	broad.mit.edu	37	17	32483422	32483422	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:32483422G>A	uc002hhu.3	-	0	404	c.130C>T	c.(130-132)Ctg>Ttg	p.L44L		NM_001094	NP_001085	Q16515	ACCN1_HUMAN	Homo sapiens amiloride-sensitive cation channel 1, neuronal (ACCN1), transcript variant MDEG1, mRNA.	44					central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding									Amiloride(DB00594)	ACTGCCCACAGCACACGCCGG	0.592000														29			14		0	0	1	0	0
SPRED1	161742	broad.mit.edu	37	15	38591666	38591666	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:38591666T>C	uc001zka.4	+	1	460	c.125T>C	c.(124-126)gTc>gCc	p.V42A		NM_152594	NP_689807	Q7Z699	SPRE1_HUMAN	Homo sapiens sprouty-related, EVH1 domain containing 1 (SPRED1), mRNA.	42	WH1.				inactivation of MAPK activity|multicellular organismal development	caveola|nucleus	stem cell factor receptor binding	p.S41S(1)		kidney(6)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(109;4.88e-13)|all_epithelial(112;1.83e-11)|Lung NSC(122;2.21e-09)|all_lung(180;4.64e-08)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(113;2.41e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		CTAAGCAGCGTCACTGTCTTC	0.458000									Legius syndrome					31			19		0	0	1	0	0
TFIP11	24144	broad.mit.edu	37	22	26890245	26890245	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:26890245C>T	uc003acr.2	-	12	2392	c.2018G>A	c.(2017-2019)aGc>aAc	p.S673N	TFIP11_uc003acq.2_Missense_Mutation_p.S32N|TFIP11_uc003acs.2_Missense_Mutation_p.S673N|TFIP11_uc003act.2_Missense_Mutation_p.S673N	NM_012143	NP_036275	Q9UBB9	TFP11_HUMAN	Homo sapiens tuftelin interacting protein 11 (TFIP11), transcript variant 2, mRNA.	673					biomineral tissue development	catalytic step 2 spliceosome|cytoplasm|nuclear speck	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25						ATAATTTGGGCTGTTACTGAG	0.443000														36			25		0	0	1	0	0
KRT28	162605	broad.mit.edu	37	17	38948722	38948722	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:38948722G>T	uc002hvh.1	-	7	1418	c.1352C>A	c.(1351-1353)tCt>tAt	p.S451Y		NM_181535	NP_853513	Q7Z3Y7	K1C28_HUMAN	Homo sapiens keratin 28 (KRT28), mRNA.	451	Tail.					cytoplasm|intermediate filament	structural molecule activity			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30		Breast(137;0.000301)				GGTCATTTTAGATGTCTTTTC	0.373000														36			6		3.59834e-05	3.95114e-05	1	1	0
ZNF217	7764	broad.mit.edu	37	20	52198661	52198661	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:52198661G>A	uc002xwq.4	-	0	1047	c.705C>T	c.(703-705)cgC>cgT	p.R235R	ZNF217_uc010gij.1_Silent_p.R227R	NM_006526	NP_006517	O75362	ZN217_HUMAN	Homo sapiens zinc finger protein 217 (ZNF217), mRNA.	235					negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.R235S(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			TGTGCACCTTGCGGTGCTCAA	0.517000														69			31		0	0	1	0	0
SMARCAD1	56916	broad.mit.edu	37	4	95185933	95185933	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:95185933G>A	uc003htb.4	+	9	1534	c.1357G>A	c.(1357-1359)Gat>Aat	p.D453N	SMARCAD1_uc003htc.4_Missense_Mutation_p.D453N|SMARCAD1_uc003htd.4_Missense_Mutation_p.D453N|SMARCAD1_uc010ila.3_Missense_Mutation_p.D316N|SMARCAD1_uc011cdw.2_Missense_Mutation_p.D23N	NM_001128430	NP_001121902	Q9H4L7	SMRCD_HUMAN	Homo sapiens SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1 (SMARCAD1), transcript variant 2, mRNA.	453					chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		CCAAGAAAGAGATGTAGTTAT	0.323000														38			32		0	0	1	0	0
SLC25A19	60386	broad.mit.edu	37	17	73274401	73274401	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:73274401G>A	uc002jns.4	-	3	1385	c.475C>T	c.(475-477)Cgc>Tgc	p.R159C	SLC25A19_uc010dge.3_Missense_Mutation_p.R102C|SLC25A19_uc002jnv.4_Missense_Mutation_p.R159C|SLC25A19_uc002jnu.4_Missense_Mutation_p.R159C|SLC25A19_uc002jnw.4_Missense_Mutation_p.R159C|SLC25A19_uc002jnt.4_Missense_Mutation_p.R159C	NM_021734	NP_068380	Q9HC21	TPC_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19 (SLC25A19), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	159						integral to membrane|mitochondrial inner membrane	binding|deoxynucleotide transmembrane transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9	all_cancers(13;5.98e-08)|all_epithelial(9;1.16e-08)|Breast(9;3.1e-08)		all cancers(21;6.82e-07)|Epithelial(20;6.86e-06)			ACGGCGTGGCGCAGCGTATTA	0.567000														80			10		0	0	1	0	0
ZNF462	58499	broad.mit.edu	37	9	109689801	109689801	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:109689801G>T	uc004bcz.3	+	2	3897	c.3608G>T	c.(3607-3609)cGg>cTg	p.R1203L	MIR548Q_uc022bli.1_Intron|ZNF462_uc010mto.3_Missense_Mutation_p.R1051L|ZNF462_uc004bda.3_Missense_Mutation_p.R1051L	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN	Homo sapiens zinc finger protein 462 (ZNF462), mRNA.	1203					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						TATGGGAACCGGACGGTCAAA	0.532000														218			145		2.58994e-81	3.45788e-81	1	1	0
PGLYRP4	57115	broad.mit.edu	37	1	153312884	153312884	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:153312884C>A	uc001fbo.3	-	6	862	c.797G>T	c.(796-798)aGg>aTg	p.R266M	PGLYRP4_uc001fbp.3_Missense_Mutation_p.R262M	NM_020393	NP_065126	Q96LB8	PGRP4_HUMAN	Homo sapiens peptidoglycan recognition protein 4 (PGLYRP4), mRNA.	266					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			TGACTTGAGCCTGTCTATGTA	0.517000														48			24		4.7796e-09	5.65454e-09	1	1	0
OR4M1	441670	broad.mit.edu	37	14	20248810	20248810	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:20248810C>T	uc010tku.2	+	0	329	c.329C>T	c.(328-330)tCg>tTg	p.S110L		NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily M, member 1 (OR4M1), mRNA.	110					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S110L(2)|p.S110S(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GTTGGGGCTTCGGAGATGTTC	0.478000														217			80		0	0	1	0	0
RPL6	6128	broad.mit.edu	37	12	112843140	112843140	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:112843140G>T	uc001ttu.3	-	6	984	c.755C>A	c.(754-756)gCt>gAt	p.A252D	RPL6_uc001ttv.3_Missense_Mutation_p.A252D	NM_001024662	NP_001019833	Q02878	RL6_HUMAN	Homo sapiens ribosomal protein L6 (RPL6), transcript variant 1, mRNA.	252				AVDSQILPKIKAIPQLQ -> LWTHKFYQKSKLFLSSS (in Ref. 1; CAA49188).	endocrine pancreas development|regulation of transcription, DNA-dependent|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	DNA binding|RNA binding|structural constituent of ribosome			cervix(1)|large_intestine(6)|lung(3)	10						TGAGTCCACAGCTTTCTGATC	0.378000														30			14		2.61681e-11	3.19342e-11	1	1	0
MEP1B	4225	broad.mit.edu	37	18	29793158	29793158	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:29793158C>T	uc002kxj.4	+	10	1262	c.1215C>T	c.(1213-1215)cgC>cgT	p.R405R		NM_005925	NP_005916	Q16820	MEP1B_HUMAN	Homo sapiens meprin A, beta (MEP1B), mRNA.	405	MAM.				digestion|proteolysis	extracellular space|integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						TTGAAGGACGCAAAGGCTCTG	0.423000														35			20		0	0	1	0	0
ALG6	29929	broad.mit.edu	37	1	63872050	63872050	+	Nonsense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:63872050G>T	uc021oof.1	+	5	714	c.409G>T	c.(409-411)Gaa>Taa	p.E137*		NM_013339	NP_037471	Q9Y672	ALG6_HUMAN	Homo sapiens asparagine-linked glycosylation 6, alpha-1,3-glucosyltransferase homolog (S. cerevisiae) (ALG6), mRNA.	137					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						TTGCTTAAAAGAAATCTCAAC	0.328000														69			8		0.00621372	0.00645399	1	1	0
GNA14	9630	broad.mit.edu	37	9	80040524	80040524	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:80040524C>A	uc004aku.3	-	5	1354	c.831G>T	c.(829-831)gaG>gaT	p.E277D		NM_004297	NP_004288	O95837	GNA14_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), alpha 14 (GNA14), mRNA.	277					G-protein signaling, coupled to cAMP nucleotide second messenger|activation of phospholipase C activity by dopamine receptor signaling pathway|platelet activation|protein ADP-ribosylation	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	24						ACATGATTTTCTCTTCCAAAA	0.403000														39			35		1.22384e-17	1.5618e-17	1	1	0
FLNA	2316	broad.mit.edu	37	X	153582630	153582630	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153582630C>T	uc004fkk.2	-	33	5695	c.5446G>A	c.(5446-5448)Gcg>Acg	p.A1816T	FLNA_uc011mzn.1_Missense_Mutation_p.A7T|FLNA_uc010nuu.1_Missense_Mutation_p.A1808T	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	Homo sapiens filamin A, alpha (FLNA), transcript variant 2, mRNA.	1816					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	Fc-gamma receptor I complex binding|GTP-Ral binding|Rac GTPase binding|actin filament binding|glycoprotein binding|protein homodimerization activity|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GTGGGCTGCGCCACCTTGCCT	0.632000														25			18		0	0	1	0	0
NCAPD2	9918	broad.mit.edu	37	12	6639008	6639008	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:6639008C>T	uc001qoo.2	+	28	3767	c.3721C>T	c.(3721-3723)Cgt>Tgt	p.R1241C	NCAPD2_uc010sfd.1_Missense_Mutation_p.R1196C	NM_014865	NP_055680	Q15021	CND1_HUMAN	Homo sapiens non-SMC condensin I complex, subunit D2 (NCAPD2), mRNA.	1241					cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						GCGAGGCCTCCGTAAGATGCT	0.532000														56			32		0	0	1	0	0
MLL3	58508	broad.mit.edu	37	7	151853385	151853385	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:151853385G>T	uc003wla.3	-	44	11936	c.11717C>A	c.(11716-11718)cCt>cAt	p.P3906H	MLL3_uc003wkz.3_Missense_Mutation_p.P3024H|MLL3_uc003wkx.3_Missense_Mutation_p.P64H|MLL3_uc003wky.3_Missense_Mutation_p.P1470H	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	3906					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		AGGTGGTGTAGGAGGAAGAGA	0.438000			N		medulloblastoma									106			7		7.48243e-07	8.52591e-07	1	1	0
SP4	6671	broad.mit.edu	37	7	21516748	21516748	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:21516748C>A	uc003sva.3	+	3	1911	c.1730C>A	c.(1729-1731)cCt>cAt	p.P577H	SP4_uc003svb.3_Missense_Mutation_p.P264H	NM_003112	NP_003103	Q02446	SP4_HUMAN	Homo sapiens Sp4 transcription factor (SP4), mRNA.	577					regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						ACTATAGCTCCTGTAACTGTA	0.423000														56			5		0.014758	0.0151755	1	1	0
SCAMP5	192683	broad.mit.edu	37	15	75310806	75310806	+	Missense_Mutation	SNP	C	T	T	rs138727668	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:75310806C>T	uc002azn.2	+	5	654	c.467C>T	c.(466-468)gCg>gTg	p.A156V	SCAMP5_uc002azl.2_Missense_Mutation_p.A148V|SCAMP5_uc002azm.2_Missense_Mutation_p.A148V|SCAMP5_uc002azk.2_Missense_Mutation_p.A148V|SCAMP5_uc010uly.2_Missense_Mutation_p.A77V	NM_138967	NP_620417	Q8TAC9	SCAM5_HUMAN	Homo sapiens secretory carrier membrane protein 5 (SCAMP5), transcript variant 3, mRNA.	148					exocytosis|negative regulation of endocytosis|positive regulation of calcium ion-dependent exocytosis|positive regulation of cytokine secretion|protein transport|response to endoplasmic reticulum stress	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane|trans-Golgi network membrane	protein binding			large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	5						ATTGGCTCGGCGGTGGTGATG	0.577000														105			7		0	0	1	0	0
PAK3	5063	broad.mit.edu	37	X	110406218	110406218	+	Nonsense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:110406218G>T	uc010npv.1	+	6	679	c.652G>T	c.(652-654)Gaa>Taa	p.E218*	PAK3_uc010npt.1_Nonsense_Mutation_p.E182*|PAK3_uc010npu.1_Nonsense_Mutation_p.E182*|PAK3_uc004eoy.1_5'UTR|PAK3_uc004eoz.2_Nonsense_Mutation_p.E182*|PAK3_uc011mst.1_Non-coding_Transcript|PAK3_uc010npw.1_Nonsense_Mutation_p.E203*|PAK3_uc004epa.2_Nonsense_Mutation_p.E197*	NM_001128168	NP_001121640	O75914	PAK3_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 3 (PAK3), transcript variant 4, mRNA.	197	Linker.				multicellular organismal development		ATP binding|SH3 domain binding|metal ion binding|protein serine/threonine kinase activity	p.E182*(1)		breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						agaagaagaagaagatgaaAA	0.408000										TSP Lung(19;0.15)				96			10		4.68919e-08	5.46558e-08	1	1	0
AHNAK2	113146	broad.mit.edu	37	14	105411294	105411294	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:105411294C>T	uc010axc.1	-	6	10614	c.10494G>A	c.(10492-10494)gtG>gtA	p.V3498V	AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Silent_p.V3398V	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	3498						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TCGGCGCAGACACATCCAGCG	0.617000														123			58		0	0	1	0	0
LYRM5	144363	broad.mit.edu	37	12	25357176	25357176	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:25357176C>T	uc001rgn.3	+	2	362	c.203C>T	c.(202-204)gCt>gTt	p.A68V	LYRM5_uc001rgo.3_Missense_Mutation_p.A66V	NM_001001660	NP_001001660	Q6IPR1	LYRM5_HUMAN	Homo sapiens LYR motif containing 5 (LYRM5), mRNA.	66										large_intestine(3)	3	all_cancers(2;4.75e-35)|all_epithelial(2;1.91e-37)|all_lung(3;1.07e-23)|Lung NSC(3;5.49e-23)|Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.0016)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;2.21e-21)|Epithelial(3;8.04e-19)|all cancers(3;2.26e-16)|STAD - Stomach adenocarcinoma(2;0.00138)			GAGCTAGAAGCTTTGTACTTC	0.333000														62			7		0	0	1	0	0
WDR45	11152	broad.mit.edu	37	X	48933405	48933405	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:48933405G>A	uc004dml.1	-	7	699	c.527C>T	c.(526-528)gCg>gTg	p.A176V	WDR45_uc004dmi.3_5'Flank|WDR45_uc011mmt.2_Missense_Mutation_p.A73V|WDR45_uc004dmj.1_Missense_Mutation_p.A136V|WDR45_uc004dmk.1_Missense_Mutation_p.A175V|WDR45_uc004dmn.1_Missense_Mutation_p.A66V|WDR45_uc004dmp.1_Missense_Mutation_p.A176V	NM_007075	NP_009006	Q9Y484	WIPI4_HUMAN	Homo sapiens WD repeat domain 45 (WDR45), transcript variant 1, mRNA.	175					autophagy|response to starvation	organelle membrane	phosphatidylinositol-3,5-bisphosphate binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	19						CTTTGTGCTCGCCAGGTCCTG	0.582000														11			3		0	0	1	0	0
DMD	1756	broad.mit.edu	37	X	31645873	31645873	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:31645873C>T	uc004dda.1	-	54	8378	c.8134G>A	c.(8134-8136)Gcc>Acc	p.A2712T	DMD_uc004dcr.1_Missense_Mutation_p.A252T|DMD_uc004dcs.1_Missense_Mutation_p.A252T|DMD_uc004dct.1_Missense_Mutation_p.A252T|DMD_uc004dcu.1_Missense_Mutation_p.A252T|DMD_uc004dcv.1_Missense_Mutation_p.A252T|DMD_uc004dcw.2_Missense_Mutation_p.A1368T|DMD_uc004dcx.2_Missense_Mutation_p.A1371T|DMD_uc004dcz.2_Missense_Mutation_p.A2589T|DMD_uc004dcy.1_Missense_Mutation_p.A2708T|DMD_uc004ddb.1_Missense_Mutation_p.A2704T	NM_004006	NP_004001	P11532	DMD_HUMAN	Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA.	2712					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				AGGACATTGGCAGTTGTTTCA	0.473000														28			10		0	0	1	0	0
ATP2A2	488	broad.mit.edu	37	12	110764194	110764194	+	Splice_Site	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:110764194G>T	uc001tqk.4	+	7	1108	c.545_splice	c.e7-1	p.G182_splice	ATP2A2_uc001tql.4_Splice_Site_p.G182_splice|ATP2A2_uc021rdt.1_Splice_Site_p.G30_splice	NM_170665	NP_733765	P16615	AT2A2_HUMAN	Homo sapiens ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 (ATP2A2), transcript variant b, mRNA.	182					ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|S100 alpha binding|calcium-transporting ATPase activity|protein C-terminus binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						AACCCGCTTAGGTGAATCTGT	0.463000														20			6		3.59834e-05	3.95114e-05	1	1	0
C15orf41	84529	broad.mit.edu	37	15	37100621	37100621	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:37100621G>A	uc001zje.4	+	10	1063	c.813G>A	c.(811-813)acG>acA	p.T271T	C15orf41_uc010bbb.1_Silent_p.T173T|C15orf41_uc001zjf.3_Silent_p.T173T|C15orf41_uc010uci.2_Silent_p.T173T|CSNK1A1P1_uc001zjg.4_Intron	NM_001130010	NP_115888	Q9Y2V0	CO041_HUMAN	Homo sapiens chromosome 15 open reading frame 41 (C15orf41), transcript variant 1, mRNA.	271							protein binding			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12		all_epithelial(112;3.06e-10)|Lung NSC(122;6.48e-08)|all_lung(180;8.31e-07)|Melanoma(134;0.222)		all cancers(64;1.76e-19)|GBM - Glioblastoma multiforme(113;5.03e-07)|BRCA - Breast invasive adenocarcinoma(123;0.11)		GTTTCCCCACGAACATTGTCA	0.493000														23			12		0	0	1	0	0
NCKAP5	344148	broad.mit.edu	37	2	133541148	133541148	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:133541148G>A	uc002ttp.3	-	13	3610	c.3236C>T	c.(3235-3237)aCg>aTg	p.T1079M	NCKAP5_uc002ttq.3_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Homo sapiens NCK-associated protein 5 (NCKAP5), transcript variant 1, mRNA.	1079							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TTTGGAGGACGTCATTTCCAG	0.507000														131			90		0	0	1	0	0
MMP3	4314	broad.mit.edu	37	11	102713310	102713310	+	Splice_Site	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:102713310C>T	uc001phj.1	-	3	416	c.351_splice	c.e3-1	p.R117_splice		NM_002422	NP_002413	P08254	MMP3_HUMAN	Homo sapiens matrix metallopeptidase 3 (stromelysin 1, progelatinase) (MMP3), mRNA.	117					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)|Simvastatin(DB00641)	AATTCACAATCCTGTAGGAGA	0.378000														53			41		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179494085	179494085	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179494085G>A	uc021vsy.1	-	188	36888	c.36663C>T	c.(36661-36663)taC>taT	p.Y12221Y	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Silent_p.Y5916Y|TTN_uc021vta.1_Silent_p.Y5849Y|TTN_uc021vtb.1_Silent_p.Y5724Y	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	13148	Ig-like 81.						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)			GGATATCTTCGTAGGAGAGCT	0.488000														49			4		0	0	1	0	0
abParts	0	broad.mit.edu	37	15	22472960	22472960	+	RNA	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:22472960G>T	uc001yuj.2	-	6		c.368C>A								Parts of antibodies, mostly variable regions.																		GGCGGTCACAGAGCTCAGCTT	0.567000														19			60		8.21609e-47	1.09414e-46	1	1	0
DCST2	127579	broad.mit.edu	37	1	155005152	155005152	+	Nonsense_Mutation	SNP	T	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155005152T>A	uc001fgm.3	-	2	612	c.532A>T	c.(532-534)Aaa>Taa	p.K178*	DCST2_uc009wpb.3_Non-coding_Transcript|DCST1_uc010per.2_5'Flank|DCST1_uc001fgn.2_5'Flank|DCST1_uc010pes.2_5'Flank	NM_144622	NP_653223	Q5T1A1	DCST2_HUMAN	Homo sapiens DC-STAMP domain containing 2 (DCST2), mRNA.	178						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CCTATGTGTTTCACACCATCC	0.532000														58			13		0	0	1	0	0
RIN2	54453	broad.mit.edu	37	20	19951529	19951529	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:19951529C>T	uc002wro.2	+	6	880	c.731C>T	c.(730-732)gCc>gTc	p.A244V	RIN2_uc010gcu.2_Intron|RIN2_uc010gcv.2_5'UTR	NM_001242581	NP_001229510	Q8WYP3	RIN2_HUMAN	Homo sapiens Ras and Rab interactor 2 (RIN2), transcript variant 1, mRNA.	195					endocytosis|small GTPase mediated signal transduction	cytoplasm	GTPase activator activity|Rab guanyl-nucleotide exchange factor activity	p.L243L(1)		autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	27						ATTTCAACAGCCAAGTCGGAG	0.438000														20			7		0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7581603	7581603	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:7581603T>C	uc003mxp.1	+	22	5459	c.5180T>C	c.(5179-5181)cTg>cCg	p.L1727P	DSP_uc003mxq.1_Intron|DSP_uc021yle.1_Intron	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	1727	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)		CTGCGGAACCTGAGGCTGGAG	0.473000														58			53		0	0	1	0	0
CDKL4	344387	broad.mit.edu	37	2	39406359	39406359	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:39406359C>T	uc010fal.2	-	7	896	c.896G>A	c.(895-897)cGt>cAt	p.R299H	CDKL4_uc002rrm.3_Missense_Mutation_p.R299H	NM_001009565	NP_001009565	Q5MAI5	CDKL4_HUMAN	Homo sapiens cyclin-dependent kinase-like 4 (CDKL4), mRNA.	299						cytoplasm	ATP binding|cyclin-dependent protein kinase activity			breast(1)|large_intestine(2)|liver(1)|lung(7)|ovary(1)	12		all_hematologic(82;0.248)				TCCTTCATTACGTGCTTTTCT	0.378000														81			39		0	0	1	0	0
IQSEC3	440073	broad.mit.edu	37	12	266833	266833	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:266833C>T	uc001qhw.2	+	6	2416	c.2416C>T	c.(2416-2418)Ctg>Ttg	p.L806L	IQSEC3_uc001qhu.1_Silent_p.L503L	NM_001170738	NP_001164209	Q9UPP2	IQEC3_HUMAN	Homo sapiens IQ motif and Sec7 domain 3 (IQSEC3), transcript variant 1, mRNA.	806	SEC7.				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		GAAGATGATGCTGGAGGACTT	0.592000														59			6		0	0	1	0	0
FAM21C	253725	broad.mit.edu	37	10	46224421	46224421	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:46224421C>T	uc001jcu.3	+	2	356	c.238C>T	c.(238-240)Cat>Tat	p.H80Y	FAM21C_uc001jcs.2_Intron|FAM21C_uc010qfk.2_Missense_Mutation_p.H80Y|FAM21C_uc010qfi.2_Missense_Mutation_p.H80Y	NM_015262	NP_056077	A8K5W5	A8K5W5_HUMAN	Homo sapiens family with sequence similarity 21, member C (FAM21C), transcript variant 1, mRNA.	80										central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						TTGTCGCCTGCATAATGTCTT	0.388000														91			53		0	0	1	0	0
MED9	55090	broad.mit.edu	37	17	17394698	17394698	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:17394698C>T	uc002grh.1	+	1	386	c.330C>T	c.(328-330)agC>agT	p.S110S		NM_018019	NP_060489	Q9NWA0	MED9_HUMAN	Homo sapiens mediator complex subunit 9 (MED9), mRNA.	110					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		protein binding			cervix(1)|endometrium(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						TCCACCTGAGCCCCGAACAGC	0.577000														53			33		0	0	1	0	0
CLEC18B	497190	broad.mit.edu	37	16	74451985	74451985	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:74451985C>T	uc002fct.3	-	2	628	c.428G>A	c.(427-429)cGc>cAc	p.R143H	CLEC18B_uc002fcu.3_Missense_Mutation_p.R143H|CLEC18B_uc010vmu.1_Intron|CLEC18B_uc010vmw.1_Missense_Mutation_p.R143H	NM_001011880	NP_001011880	Q6UXF7	CL18B_HUMAN	Homo sapiens C-type lectin domain family 18, member B (CLEC18B), mRNA.	143	SCP.					extracellular region	sugar binding			endometrium(3)|kidney(9)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						GGTGGCGTTGCGAGCACACTC	0.627000														17			9		0	0	1	0	0
GLOD4	51031	broad.mit.edu	37	17	679034	679034	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:679034A>G	uc002frv.3	-	4	508	c.432T>C	c.(430-432)aaT>aaC	p.N144N	GLOD4_uc002frt.3_Silent_p.N73N|GLOD4_uc002fru.3_Silent_p.N129N|GLOD4_uc010vqc.2_Silent_p.N120N	NM_016080	NP_057164	Q9HC38	GLOD4_HUMAN	Homo sapiens glyoxalase domain containing 4 (GLOD4), mRNA.	144						mitochondrion				endometrium(1)|large_intestine(1)|prostate(1)	3				UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		GCAGACTGCGATTCTGCAAAT	0.488000														67			12		0	0	1	0	0
WARS	7453	broad.mit.edu	37	14	100801232	100801232	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:100801232G>A	uc001yhh.1	-	10	1777	c.1396C>T	c.(1396-1398)Ctg>Ttg	p.L466L	WARS_uc001yhi.1_Silent_p.L425L|WARS_uc001yhg.2_Silent_p.L466L|WARS_uc001yhl.1_Silent_p.L466L|WARS_uc001yhk.1_Silent_p.L425L	NM_004184	NP_998811	P23381	SYWC_HUMAN	Homo sapiens tryptophanyl-tRNA synthetase (WARS), transcript variant 1, mRNA.	466					angiogenesis|negative regulation of cell proliferation|regulation of angiogenesis|tryptophanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|protein binding|tryptophan-tRNA ligase activity			breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20		all_cancers(154;0.00223)|all_lung(585;2.48e-06)|all_epithelial(191;0.000564)|Melanoma(154;0.152)			L-Tryptophan(DB00150)	TCGAAGGACAGCTTCCGGGGA	0.493000														43			20		0	0	1	0	0
OR4F6	390648	broad.mit.edu	37	15	102345968	102345968	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:102345968G>A	uc010utr.2	+	0	46	c.46G>A	c.(46-48)Gga>Aga	p.G16R		NM_001005326	NP_001005326	Q8NGB9	OR4F6_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily F, member 6 (OR4F6), mRNA.	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(1)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			TGTGTTCCTGGGACTCTCTGA	0.483000														69			28		0	0	1	0	0
WRAP53	55135	broad.mit.edu	37	17	7605088	7605088	+	Silent	SNP	C	T	T	rs73248508	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7605088C>T	uc010vuh.2	+	6	1091	c.936C>T	c.(934-936)tgC>tgT	p.C312C	WRAP53_uc010vui.2_Silent_p.C312C|WRAP53_uc002gip.3_Silent_p.C312C|WRAP53_uc002gir.3_Silent_p.C312C|WRAP53_uc002giq.3_Non-coding_Transcript|WRAP53_uc010cnl.3_Silent_p.C279C|WRAP53_uc010vuj.2_Silent_p.C93C	NM_001143990	NP_060551	Q9BUR4	WAP53_HUMAN	Homo sapiens WD repeat containing, antisense to TP53 (WRAP53), transcript variant 2, mRNA.	312					positive regulation of telomerase activity|telomere formation via telomerase	Cajal body|cytoplasm|telomerase holoenzyme complex	RNA binding|protein binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(2)	18						GCCGAGACTGCGAGGTCCGAG	0.632000														8			3		0	0	1	0	0
NCKAP5L	57701	broad.mit.edu	37	12	50191178	50191178	+	Splice_Site	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:50191178C>T	uc009zlk.2	-	8	668	c.466_splice	c.e8-1	p.V156_splice	NCKAP5L_uc001rvc.3_5'Flank|NCKAP5L_uc001rvb.2_Splice_Site	NM_001037806	NP_001032895	Q9HCH0	NCK5L_HUMAN	Homo sapiens NCK-associated protein 5-like (NCKAP5L), mRNA.	152	Pro-rich.									central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						CCCAACATACCTTAGGGGAGA	0.647000														10			4		0	0	1	0	0
ARHGEF16	27237	broad.mit.edu	37	1	3395175	3395175	+	Splice_Site	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:3395175G>A	uc001akg.4	+	12	2062	c.1814_splice	c.e12+1	p.A605_splice	ARHGEF16_uc001aki.3_Splice_Site_p.A317_splice|ARHGEF16_uc001akj.3_Splice_Site_p.A317_splice|ARHGEF16_uc010nzh.2_Splice_Site_p.A309_splice	NM_014448	NP_055263	Q5VV41	ARHGG_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 16 (ARHGEF16), mRNA.	605	PH.				activation of Cdc42 GTPase activity|activation of Rac GTPase activity|apoptosis|cell chemotaxis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|small GTPase mediated signal transduction	cytosol	PDZ domain binding|Rho GTPase binding|Rho guanyl-nucleotide exchange factor activity|receptor tyrosine kinase binding			lung(6)|ovary(1)	7	all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101)	all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211)		Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		CTCGGACTCCGCGTAAGTGGG	0.682000														15			10		0	0	1	0	0
SLC4A2	6522	broad.mit.edu	37	7	150772400	150772400	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:150772400C>A	uc022apz.1	+	19	4146	c.3106C>A	c.(3106-3108)Ctg>Atg	p.L1036M	SLC4A2_uc003wit.4_Missense_Mutation_p.L1036M|SLC4A2_uc011kve.2_Missense_Mutation_p.L1027M|SLC4A2_uc003wiu.4_Missense_Mutation_p.L1022M|AK296065_uc011kvf.2_Missense_Mutation_p.Q162H	NM_001199692	NP_001186621	P04920	B3A2_HUMAN	Homo sapiens solute carrier family 4, anion exchanger, member 2 (erythrocyte membrane protein band 3-like 1) (SLC4A2), transcript variant 2, mRNA.	1036	Membrane (anion exchange).				bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCACCTGGACCTGCTGCTCAT	0.647000														42			9		1.58986e-06	1.80238e-06	1	1	0
FARP1	10160	broad.mit.edu	37	13	99030088	99030088	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:99030088C>T	uc001vnh.3	+	5	651	c.412C>T	c.(412-414)Ctg>Ttg	p.L138L	FARP1_uc001vnj.3_Silent_p.L138L	NM_005766	NP_005757	Q9Y4F1	FARP1_HUMAN	Homo sapiens FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived) (FARP1), transcript variant 1, mRNA.	138	FERM.				regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	Rho guanyl-nucleotide exchange factor activity|cytoskeletal protein binding			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			CCTGTTCGCGCTGCAGGTGAA	0.547000														24			23		0	0	1	0	0
ZNF528	84436	broad.mit.edu	37	19	52909844	52909844	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:52909844G>T	uc002pzh.3	+	5	645	c.219G>T	c.(217-219)gaG>gaT	p.E73D	ZNF528_uc002pzi.3_5'UTR	NM_032423	NP_115799	Q3MIS6	ZN528_HUMAN	Homo sapiens zinc finger protein 528 (ZNF528), mRNA.	73	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		AGAGTGAAGAGAAAATAGCAA	0.443000														51			15		4.14922e-12	5.1026e-12	1	1	0
P2RY2	5029	broad.mit.edu	37	11	72946205	72946205	+	Missense_Mutation	SNP	G	A	A	rs113741989		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:72946205G>A	uc021qna.1	+	0	1001	c.1001G>A	c.(1000-1002)cGc>cAc	p.R334H	P2RY2_uc001otk.3_Missense_Mutation_p.R334H|P2RY2_uc001otj.3_Missense_Mutation_p.R334H|P2RY2_uc001otl.3_Missense_Mutation_p.R334H	NM_176072	NP_788086	P41231	P2RY2_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 2 (P2RY2), transcript variant 1, mRNA.	334			R -> C (in dbSNP:rs1626154).		activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25					Suramin(DB04786)	CCGGCTCGCCGCAGGCTGGGC	0.647000														16			24		0	0	1	0	0
HSPA1L	3305	broad.mit.edu	37	6	31779560	31779560	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31779560T>G	uc003nxh.3	-	1	373	c.190A>C	c.(190-192)Aat>Cat	p.N64H	HSPA1L_uc010jte.3_Missense_Mutation_p.N64H|HSPA1L_uc021yuz.1_Missense_Mutation_p.N64H	NM_005527	NP_005518	P34931	HS71L_HUMAN	Homo sapiens heat shock 70kDa protein 1-like (HSPA1L), mRNA.	64					response to unfolded protein		ATP binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						TTCTGGGGATTCATTGCTACC	0.507000														66			54		0	0	1	0	0
PTGFR	5737	broad.mit.edu	37	1	78958573	78958573	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:78958573G>A	uc001din.3	+	1	411	c.145G>A	c.(145-147)Gcc>Acc	p.A49T	PTGFR_uc001dim.3_Missense_Mutation_p.A49T	NM_000959	NP_000950	P43088	PF2R_HUMAN	Homo sapiens prostaglandin F receptor (FP) (PTGFR), transcript variant 1, mRNA.	49					parturition	extracellular region|integral to plasma membrane	prostaglandin F receptor activity			breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287)	CCTTGCCATCGCCATTCTCAT	0.448000														104			36		0	0	1	0	0
WDR69	164781	broad.mit.edu	37	2	228755970	228755970	+	Splice_Site	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:228755970G>T	uc002vpn.1	+	4	338	c.259_splice	c.e4-1	p.V87_splice	WDR69_uc010zlw.1_Splice_Site_p.V72_splice|WDR69_uc002vpo.1_Splice_Site	NM_178821	NP_849143	Q8N136	WDR69_HUMAN	Homo sapiens WD repeat domain 69 (WDR69), mRNA.	87										breast(1)|kidney(3)|large_intestine(9)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;1.22e-10)|all cancers(144;8.11e-08)|Lung(261;0.011)|LUSC - Lung squamous cell carcinoma(224;0.0148)		TTTCACTGAAGGTTCTCAAAG	0.299000														74			6		3.59834e-05	3.95114e-05	1	1	0
C9orf174	100499483	broad.mit.edu	37	9	100088895	100088895	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:100088895A>C	uc011lut.2	+	28	3160	c.2154A>C	c.(2152-2154)gaA>gaC	p.E718D	C9orf174_uc004axe.2_Missense_Mutation_p.E718D|C9orf174_uc011lus.2_Missense_Mutation_p.E536D|C9orf174_uc004axg.2_Missense_Mutation_p.E579D|C9orf174_uc010msm.1_Non-coding_Transcript|C9orf174_uc004axf.3_Missense_Mutation_p.E579D|C9orf174_uc011luv.1_Missense_Mutation_p.E576D	NM_020893	NP_065944	Q9P1Z9	CI174_HUMAN	Homo sapiens chromosome 9 open reading frame 174 (C9orf174), mRNA.	718						integral to membrane				breast(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(1)	16						GTGACAAAGAAACACTGGCGT	0.512000														157			12		0	0	1	0	0
FAM214B	80256	broad.mit.edu	37	9	35106301	35106301	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:35106301A>G	uc003zwl.3	-	5	1491	c.1166T>C	c.(1165-1167)gTc>gCc	p.V389A	FAM214B_uc003zwm.3_Missense_Mutation_p.V389A|FAM214B_uc003zwn.3_Missense_Mutation_p.V84A|FAM214B_uc003zwo.3_Missense_Mutation_p.V389A|FAM214B_uc003zwp.1_Missense_Mutation_p.V389A|FAM214B_uc010mkk.1_Non-coding_Transcript	NM_025182	NP_079458	Q7L5A3	K1539_HUMAN	Homo sapiens family with sequence similarity 214, member B (FAM214B), mRNA.	389						nucleus											TGTGACAGTGACAGGCAGCGT	0.532000														34			13		0	0	1	0	0
PRRC2C	23215	broad.mit.edu	37	1	171509384	171509384	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:171509384G>A	uc010pmg.2	+	15	3039	c.2773G>A	c.(2773-2775)Gtt>Att	p.V925I	PRRC2C_uc010pmh.2_5'UTR	NM_015172	NP_055987	Q9Y520	PRC2C_HUMAN	Homo sapiens proline-rich coiled-coil 2C (PRRC2C), mRNA.	925							protein C-terminus binding										GAAAAGAAGTGTTTCCCATGG	0.453000														47			7		0	0	1	0	0
NCAPD2	9918	broad.mit.edu	37	12	6638999	6638999	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:6638999C>T	uc001qoo.2	+	28	3758	c.3712C>T	c.(3712-3714)Cga>Tga	p.R1238*	NCAPD2_uc010sfd.1_Nonsense_Mutation_p.R1193*	NM_014865	NP_055680	Q15021	CND1_HUMAN	Homo sapiens non-SMC condensin I complex, subunit D2 (NCAPD2), mRNA.	1238					cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						CCTCACAGAGCGAGGCCTCCG	0.522000														47			41		0	0	1	0	0
SCAF4	57466	broad.mit.edu	37	21	33073349	33073349	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:33073349C>A	uc002ypd.2	-	6	1162	c.736G>T	c.(736-738)Gct>Tct	p.A246S	SCAF4_uc002ype.2_Missense_Mutation_p.A246S|SCAF4_uc010glu.2_Missense_Mutation_p.A231S|SCAF4_uc002ypf.1_5'UTR|SCAF4_uc002ypg.2_Missense_Mutation_p.A246S	NM_020706	NP_065757	O95104	SFR15_HUMAN	Homo sapiens SR-related CTD-associated factor 4 (SCAF4), transcript variant 1, mRNA.	246						nucleus	RNA binding|nucleotide binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						GGGAAAGCAGCTTTTTGTTCA	0.438000														48			30		4.3181e-19	5.55175e-19	1	1	0
GOLGA2	2801	broad.mit.edu	37	9	131029534	131029534	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:131029534G>A	uc011maw.2	-	6	513	c.500C>T	c.(499-501)gCg>gTg	p.A167V	GOLGA2_uc010mxw.3_Intron|GOLGA2_uc004bul.1_Missense_Mutation_p.A68V|GOLGA2_uc004bum.1_Intron	NM_004486	NP_004477	Q08379	GOGA2_HUMAN	Homo sapiens golgin A2 (GOLGA2), mRNA.	167						Golgi cisterna membrane	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						CAGGGCTACCGCTAGCTGTTG	0.522000														36			29		0	0	1	0	0
LRIT3	345193	broad.mit.edu	37	4	110791385	110791385	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:110791385A>G	uc003hzx.4	+	2	1538	c.1345A>G	c.(1345-1347)Agt>Ggt	p.S449G	LRIT3_uc003hzw.4_Missense_Mutation_p.S311G	NM_198506	NP_940908	Q3SXY7	LRIT3_HUMAN	Homo sapiens leucine-rich repeat, immunoglobulin-like and transmembrane domains 3 (LRIT3), mRNA.	449	Fibronectin type-III.					integral to membrane				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	16				OV - Ovarian serous cystadenocarcinoma(123;0.0011)		CAGGGTGGTCAGTGAGACTAA	0.458000														80			9		0	0	1	0	0
PRKAG3	53632	broad.mit.edu	37	2	219692321	219692321	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:219692321C>T	uc002vjb.1	-	7	871	c.852G>A	c.(850-852)ctG>ctA	p.L284L	PRKAG3_uc010zkn.1_Non-coding_Transcript|PRKAG3_uc010fvy.1_Nonsense_Mutation_p.W326*	NM_017431	NP_059127	Q9UGI9	AAKG3_HUMAN	Homo sapiens protein kinase, AMP-activated, gamma 3 non-catalytic subunit (PRKAG3), mRNA.	284	CBS 2.				cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|intracellular protein kinase cascade|regulation of fatty acid oxidation	cytosol	AMP-activated protein kinase activity|protein kinase binding			large_intestine(7)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGATGGAGACCAGAGGCTTGA	0.582000														56			32		0	0	1	0	0
TGFBR2	7048	broad.mit.edu	37	3	30691945	30691945	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:30691945C>A	uc003ceo.3	+	2	829	c.447C>A	c.(445-447)ttC>ttA	p.F149L	TGFBR2_uc021wut.1_Missense_Mutation_p.F27L|TGFBR2_uc003cen.3_Missense_Mutation_p.F174L	NM_003242	NP_003233	P37173	TGFR2_HUMAN	Homo sapiens transforming growth factor, beta receptor II (70/80kDa) (TGFBR2), transcript variant 2, mRNA.	149					activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of NK T cell differentiation|positive regulation of T cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of reactive oxygen species metabolic process|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|SMAD binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						ACATCATCTTCTCAGAAGGTG	0.428000														70			47		6.08268e-21	7.8628e-21	1	1	0
LRPPRC	10128	broad.mit.edu	37	2	44173377	44173377	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:44173377C>T	uc002rtr.2	-	20	2143	c.2085G>A	c.(2083-2085)atG>atA	p.M695I	LRPPRC_uc010yob.1_Missense_Mutation_p.M595I	NM_133259	NP_573566	P42704	LPPRC_HUMAN	Homo sapiens leucine-rich PPR-motif containing (LRPPRC), mRNA.	695					mRNA transport|mitochondrion transport along microtubule|regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm	RNA binding|beta-tubulin binding|microtubule binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				GGGCTTTTTGCATATTCTAAA	0.318000														37			4		0	0	1	0	0
SLC25A24	29957	broad.mit.edu	37	1	108700209	108700209	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:108700209C>A	uc001dvn.4	-	4	758	c.544G>T	c.(544-546)Gat>Tat	p.D182Y	SLC25A24_uc001dvm.3_Missense_Mutation_p.D163Y	NM_013386	NP_037518	Q6NUK1	SCMC1_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 24 (SLC25A24), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	182					transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding			endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	16		all_epithelial(167;3.72e-05)|all_lung(203;0.000567)|Lung NSC(277;0.0011)|Melanoma(281;0.211)		Colorectal(144;0.0345)|Lung(183;0.0971)|COAD - Colon adenocarcinoma(174;0.127)|Epithelial(280;0.134)		GTGAATTCATCTGGAATAGTT	0.428000														154			8		0.000274275	0.000294507	1	1	0
BRAF	673	broad.mit.edu	37	7	140508788	140508788	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:140508788G>T	uc003vwc.4	-	3	573	c.512C>A	c.(511-513)gCa>gAa	p.A171E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	171	RBD.				activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding		SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCCACACCTTGCAGGTACCTA	0.348000		61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome					76			24		0.000586117	0.000626886	1	1	0
TBC1D10C	374403	broad.mit.edu	37	11	67176496	67176496	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:67176496G>A	uc001ola.3	+	8	914	c.885G>A	c.(883-885)gcG>gcA	p.A295A	PPP1CA_uc001okx.1_Intron|TBC1D10C_uc001okz.3_Missense_Mutation_p.A231T|TBC1D10C_uc001olb.3_Non-coding_Transcript	NM_198517	NP_940919	Q8IV04	TB10C_HUMAN	Homo sapiens TBC1 domain family, member 10C (TBC1D10C), mRNA.	295						intracellular	Rab GTPase activator activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			TGCGCCTGGCGCTGGGCACTG	0.692000														3			3		0	0	1	0	0
KIAA2013	90231	broad.mit.edu	37	1	11983089	11983089	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:11983089C>T	uc001atl.2	-	1	1682	c.1491G>A	c.(1489-1491)gtG>gtA	p.V497V	KIAA2013_uc001atk.3_Silent_p.V497V	NM_138346	NP_612355	Q8IYS2	K2013_HUMAN	Homo sapiens KIAA2013 (KIAA2013), mRNA.	497						integral to membrane				endometrium(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	7	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CATCCGCCAGCACGGCCAGGT	0.612000														24			8		0	0	1	0	0
SERTM1	400120	broad.mit.edu	37	13	37269218	37269218	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:37269218G>A	uc001uvt.4	+	1	449	c.3G>A	c.(1-3)atG>atA	p.M1I	SERTM1_uc021rii.1_Missense_Mutation_p.M1I	NM_203451	NP_982276	A2A2V5	CM036_HUMAN	Homo sapiens serine-rich and transmembrane domain containing 1 (SERTM1), mRNA.	1						integral to membrane											CCATAAAGATGTCTGAACCTG	0.463000														63			20		0	0	1	0	0
ZNF280C	55609	broad.mit.edu	37	X	129370553	129370553	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:129370553G>T	uc004evm.3	-	6	757	c.554C>A	c.(553-555)aCt>aAt	p.T185N	ZNF280C_uc010nrf.2_Missense_Mutation_p.T185N	NM_017666	NP_060136	Q8ND82	Z280C_HUMAN	Homo sapiens zinc finger protein 280C (ZNF280C), mRNA.	185	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(4)|large_intestine(9)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26						TTTTTTTGGAGTAACACTGTT	0.343000														83			7		1.06961e-07	1.2399e-07	1	1	0
NLRP1	22861	broad.mit.edu	37	17	5461658	5461658	+	Splice_Site	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:5461658C>T	uc002gci.3	-	4	2912	c.2357_splice	c.e4+1	p.L786_splice	NLRP1_uc002gcg.1_Splice_Site_p.L786_splice|NLRP1_uc002gch.4_Splice_Site_p.L786_splice|NLRP1_uc002gck.3_Splice_Site_p.L786_splice|NLRP1_uc002gcj.3_Splice_Site_p.L786_splice|NLRP1_uc002gcl.3_Splice_Site_p.L786_splice|NLRP1_uc010clh.3_Splice_Site_p.L786_splice	NM_033004	NP_127497	Q9C000	NALP1_HUMAN	Homo sapiens NLR family, pyrin domain containing 1 (NLRP1), transcript variant 1, mRNA.	786					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	NALP1 inflammasome complex|cytoplasm|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				TGGGTACTCACAGGACTACCA	0.567000														44			15		0	0	1	0	0
THBS2	7058	broad.mit.edu	37	6	169622506	169622506	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:169622506C>T	uc003qwt.3	-	19	3307	c.3059G>A	c.(3058-3060)cGg>cAg	p.R1020Q		NM_003247	NP_003238	P35442	TSP2_HUMAN	Homo sapiens thrombospondin 2 (THBS2), mRNA.	1020	TSP C-terminal.				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		GTCGTCGTCCCGGTCAGTGTT	0.522000														41			4		0	0	1	0	0
ADCY10	55811	broad.mit.edu	37	1	167778997	167778997	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:167778997A>C	uc001ger.3	-	32	5049	c.4751T>G	c.(4750-4752)aTt>aGt	p.I1584S	ADCY10_uc009wvj.3_Non-coding_Transcript|ADCY10_uc010plj.2_Missense_Mutation_p.I1431S|ADCY10_uc009wvk.3_Missense_Mutation_p.I1492S	NM_018417	NP_001161221	Q96PN6	ADCYA_HUMAN	Homo sapiens adenylate cyclase 10 (soluble) (ADCY10), transcript variant 1, mRNA.	1584					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	ATP binding|adenylate cyclase activity|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						GCCTGCTACAATTTTTTCCCA	0.388000														53			41		0	0	1	0	0
GPR34	2857	broad.mit.edu	37	X	41554926	41554926	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:41554926A>G	uc022bvc.1	+	0	40	c.40A>G	c.(40-42)Agc>Ggc	p.S14G	CASK_uc004dfl.4_Intron|CASK_uc004dfm.4_Intron|CASK_uc004dfn.4_Intron|GPR34_uc004dfp.4_Missense_Mutation_p.S14G|GPR34_uc004dfq.4_Missense_Mutation_p.S14G|GPR34_uc010nhg.3_Missense_Mutation_p.S14G|GPR34_uc004dfr.4_Missense_Mutation_p.S14G	NM_005300	NP_005291	Q9UPC5	GPR34_HUMAN	Homo sapiens G protein-coupled receptor 34 (GPR34), transcript variant 1, mRNA.	14						integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.V13V(1)		breast(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	14						AACTTCAGTCAGCAGCTGGCC	0.428000														86			6		0	0	1	0	0
FASN	2194	broad.mit.edu	37	17	80045217	80045217	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:80045217C>T	uc002kdu.3	-	19	3324	c.3207G>A	c.(3205-3207)ctG>ctA	p.L1069L	FASN_uc002kdw.1_Silent_p.L285L	NM_004104	NP_004095	P49327	FAS_HUMAN	Homo sapiens fatty acid synthase (FASN), mRNA.	1069					energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	Golgi apparatus|cytosol|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	CCTTGTCCTGCAGTGTGTACA	0.667000														21			10		0	0	1	0	0
RASAL1	8437	broad.mit.edu	37	12	113554924	113554924	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:113554924C>A	uc001tun.2	-	8	986	c.685G>T	c.(685-687)Ggc>Tgc	p.G229C	RASAL1_uc010syp.2_Missense_Mutation_p.G229C|RASAL1_uc001tul.3_Missense_Mutation_p.G229C|RASAL1_uc001tum.2_Missense_Mutation_p.G229C|RASAL1_uc010syq.2_Missense_Mutation_p.G229C|RASAL1_uc001tuo.4_Missense_Mutation_p.G229C|RASAL1_uc010syr.2_Missense_Mutation_p.G229C	NM_001193520	NP_001180449	O95294	RASL1_HUMAN	Homo sapiens RAS protein activator like 1 (GAP1 like) (RASAL1), transcript variant 1, mRNA.	229					intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|metal ion binding|phospholipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						CGGAACCAGCCTTTAGGTGGC	0.637000														29			22		1.10923e-09	1.32579e-09	1	1	0
HGSNAT	138050	broad.mit.edu	37	8	43002131	43002131	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:43002131G>T	uc003xpx.4	+	1	207	c.159G>T	c.(157-159)caG>caT	p.Q53H		NM_152419	NP_689632	Q68CP4	HGNAT_HUMAN	Homo sapiens heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT), mRNA.	81	Ala-rich.				lysosomal transport|protein oligomerization	integral to membrane|lysosomal membrane	heparan-alpha-glucosaminide N-acetyltransferase activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(6)	13	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			AGATGGATCAGGCTTTGCTAC	0.378000														20			13		9.05144e-12	1.10939e-11	1	1	0
NRXN1	9378	broad.mit.edu	37	2	51254960	51254960	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:51254960C>A	uc021vhh.1	-	0	1373	c.452G>T	c.(451-453)aGc>aTc	p.S151I	NRXN1_uc021vhg.1_Missense_Mutation_p.S151I|NRXN1_uc021vhi.1_Missense_Mutation_p.S151I|NRXN1_uc021vhj.1_Missense_Mutation_p.S151I|NRXN1_uc021vhk.1_Missense_Mutation_p.S151I	NM_004801	NP_004792	Q9ULB1	NRX1A_HUMAN	Homo sapiens neurexin 1 (NRXN1), transcript variant alpha1, mRNA.	151	Laminin G-like 1.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	p.K151N(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GAAAAGGCCGCTGAACACCGT	0.672000														16			4		1	1	1	1	0
DHX8	1659	broad.mit.edu	37	17	41601029	41601029	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:41601029G>T	uc002idu.1	+	22	3549	c.3477G>T	c.(3475-3477)aaG>aaT	p.K1159N	DHX8_uc010wig.2_Intron	NM_004941	NP_004932	Q14562	DHX8_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 8 (DHX8), mRNA.	1159						catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|RNA binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		TCACCACCAAGGAATACATGC	0.537000														84			6		5.9392e-07	6.7814e-07	1	1	0
TEAD1	7003	broad.mit.edu	37	11	12923629	12923629	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:12923629C>A	uc021qdx.1	+	9	1462	c.842C>A	c.(841-843)cCt>cAt	p.P281H	TEAD1_uc001mkk.4_Missense_Mutation_p.P185H|TEAD1_uc009ygl.3_Intron	NM_021961	NP_068780	P28347	TEAD1_HUMAN	Homo sapiens TEA domain family member 1 (SV40 transcriptional enhancer factor) (TEAD1), mRNA.	281	Transcriptional activation (Potential).				hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)	17				Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236)		GGAAAGGGCCCTCAAAATGCC	0.413000														213			16		3.52763e-06	3.96648e-06	1	1	0
VGLL4	9686	broad.mit.edu	37	3	11643484	11643484	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:11643484A>G	uc010hdx.1	-	1	501	c.95T>C	c.(94-96)cTc>cCc	p.L32P	VGLL4_uc003bwf.2_Missense_Mutation_p.L26P|VGLL4_uc003bwg.2_Missense_Mutation_p.L31P|VGLL4_uc011aun.1_5'UTR	NM_001128219	NP_001121691	Q14135	VGLL4_HUMAN	Homo sapiens vestigial like 4 (Drosophila) (VGLL4), transcript variant 1, mRNA.	26			M -> I (in dbSNP:rs2276749).		regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|endometrium(1)|large_intestine(1)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10				LUSC - Lung squamous cell carcinoma(1;0.089)|Lung(1;0.111)		TTCTCCCCTGAGAGCAGCTTC	0.642000														33			7		0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94088531	94088531	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:94088531C>T	uc001ybv.1	+	27	4570	c.4487C>T	c.(4486-4488)aCg>aTg	p.T1496M	UNC79_uc001ybs.1_Missense_Mutation_p.T1474M	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA.	1651						integral to membrane		p.T1495T(1)		breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						GAAGAGGAGACGATGAACCAA	0.552000														38			24		0	0	1	0	0
CDH12	1010	broad.mit.edu	37	5	21854856	21854856	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:21854856C>T	uc010iuc.2	-	3	1028	c.570G>A	c.(568-570)ccG>ccA	p.P190P	CDH12_uc011cno.1_Intron|CDH12_uc003jgk.2_Silent_p.P190P	NM_004061	NP_004052	P55289	CAD12_HUMAN	Homo sapiens cadherin 12, type 2 (N-cadherin 2) (CDH12), mRNA.	190	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						TTCCATAGGTCGGGTCATCTG	0.403000										HNSCC(59;0.17)				37			28		0	0	1	0	0
PSMA2	5683	broad.mit.edu	37	7	42964361	42964361	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:42964361T>C	uc003thy.3	-	3	335	c.287A>G	c.(286-288)cAa>cGa	p.Q96R	C7orf25_uc010kxr.3_5'UTR|PSMA2_uc003thz.1_Missense_Mutation_p.Q18R	NM_002787	NP_002778	P25787	PSA2_HUMAN	Homo sapiens proteasome (prosome, macropain) subunit, alpha type, 2 (PSMA2), mRNA.	96					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|response to virus|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	protein binding|threonine-type endopeptidase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(2)	10						AAGATAGTATTGTTGAGCTAG	0.403000														78			18		0	0	1	0	0
KLHL14	57565	broad.mit.edu	37	18	30260482	30260482	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:30260482C>A	uc002kxm.1	-	5	1707	c.1319G>T	c.(1318-1320)aGc>aTc	p.S440I		NM_020805	NP_065856	Q9P2G3	KLH14_HUMAN	Homo sapiens kelch-like 14 (Drosophila) (KLHL14), mRNA.	440						cytosol|endoplasmic reticulum membrane				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						GCACTCCACGCTGGACAAGTA	0.473000														40			10		3.86212e-05	4.23294e-05	1	1	0
MPP4	58538	broad.mit.edu	37	2	202549852	202549852	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:202549852C>T	uc002uyk.4	-	6	717	c.509G>A	c.(508-510)cGc>cAc	p.R170H	MPP4_uc010ftj.3_Missense_Mutation_p.R170H|MPP4_uc010zhq.2_Missense_Mutation_p.R170H|MPP4_uc010zht.2_Missense_Mutation_p.R143H|MPP4_uc010zhr.2_Missense_Mutation_p.R170H|MPP4_uc010zhs.2_Missense_Mutation_p.R126H|MPP4_uc002uyj.4_Missense_Mutation_p.R126H|MPP4_uc002uyl.4_Non-coding_Transcript|MPP4_uc010ftk.3_Missense_Mutation_p.R170H|MPP4_uc002uym.1_Missense_Mutation_p.R139H|MPP4_uc002uyn.3_Missense_Mutation_p.R126H	NM_033066	NP_149055	Q96JB8	MPP4_HUMAN	Homo sapiens membrane protein, palmitoylated 4 (MAGUK p55 subfamily member 4) (MPP4), mRNA.	170	PDZ.					cytoplasm	protein binding			kidney(1)|lung(11)	12						CATCTCGTGGCGCTTGATGGT	0.547000														11			4		0	0	1	0	0
SEC11A	23478	broad.mit.edu	37	15	85230935	85230935	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:85230935G>A	uc002blb.1	-	2	600	c.232C>T	c.(232-234)Cga>Tga	p.R78*	SEC11A_uc002blc.1_Nonsense_Mutation_p.R52*	NM_014300	NP_055115	P67812	SC11A_HUMAN	Homo sapiens SEC11 homolog A (S. cerevisiae) (SEC11A), mRNA.	78					energy reserve metabolic process|regulation of insulin secretion|signal peptide processing	endoplasmic reticulum membrane|integral to membrane|microsome	protein binding|serine-type peptidase activity			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(143;0.199)			TCTCCCACTCGTATGGGATCT	0.388000														56			43		0	0	1	0	0
MYH7B	57644	broad.mit.edu	37	20	33584474	33584474	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:33584474G>A	uc002xbi.2	+	29	3622	c.3305G>A	c.(3304-3306)cGc>cAc	p.R1102H		NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	Homo sapiens myosin, heavy chain 7B, cardiac muscle, beta (MYH7B), mRNA.	1060						membrane|myosin filament	ATP binding|actin binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			CGGGCCAAGCGCAAGCTGGAG	0.617000														20			8		0	0	1	0	0
KCNJ2	3759	broad.mit.edu	37	17	68172103	68172103	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:68172103C>T	uc010dfg.3	+	1	1324	c.923C>T	c.(922-924)aCg>aTg	p.T308M	KCNJ2_uc002jir.3_Missense_Mutation_p.T308M|KCNJ2_uc021ucj.1_Missense_Mutation_p.T308M	NM_000891	NP_000882	P63252	IRK2_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 2 (KCNJ2), mRNA.	308					synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity|protein binding	p.T308M(2)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1)	25	Breast(10;1.64e-08)					ACTGCCATGACGACACAGTGC	0.463000														39			5		0	0	1	0	0
PIAS4	51588	broad.mit.edu	37	19	4033559	4033559	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:4033559G>A	uc002lzg.3	+	8	1133	c.1123G>A	c.(1123-1125)Gac>Aac	p.D375N		NM_015897	NP_056981	Q8N2W9	PIAS4_HUMAN	Homo sapiens protein inhibitor of activated STAT, 4 (PIAS4), mRNA.	375					Wnt receptor signaling pathway|positive regulation of protein sumoylation|transcription, DNA-dependent	PML body|cytoplasm	DNA binding|SUMO ligase activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(3)	17				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCCCCCTACGACCAGCTCAT	0.677000														4			4		0	0	1	0	0
E4F1	1877	broad.mit.edu	37	16	2284592	2284592	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:2284592G>A	uc002cpm.3	+	10	1650	c.1602G>A	c.(1600-1602)caG>caA	p.Q534Q	E4F1_uc010bsi.3_Silent_p.Q534Q|E4F1_uc010bsj.3_Intron|DNASE1L2_uc002cpn.3_5'Flank|DNASE1L2_uc002cpo.3_5'Flank|DNASE1L2_uc002cpp.3_5'Flank|DNASE1L2_uc002cpq.3_5'Flank	NM_004424	NP_004415	Q66K89	E4F1_HUMAN	Homo sapiens E4F transcription factor 1 (E4F1), mRNA.	534	Interaction with BMI1.|Mediates interaction with CDKN2A.|Mediates interaction with TP53.				cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of growth	cytoplasm|nucleoplasm	DNA binding|ligase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			ovary(1)	1						AGAACGCACAGCAGGTGCACT	0.647000														3			3		0	0	1	0	0
DOM3Z	1797	broad.mit.edu	37	6	31938696	31938696	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31938696C>T	uc003nyp.1	-	2	918	c.585G>A	c.(583-585)atG>atA	p.M195I	DOM3Z_uc003nyq.1_5'UTR|DOM3Z_uc010jtl.1_3'UTR|STK19_uc003nyt.3_5'Flank|STK19_uc011dow.2_5'Flank|STK19_uc011dox.1_5'Flank|STK19_uc003nyv.3_5'Flank|STK19_uc003nyw.3_5'Flank|STK19_uc010jtn.1_5'Flank	NM_005510	NP_005501	O77932	DOM3Z_HUMAN	Homo sapiens dom-3 homolog Z (C. elegans) (DOM3Z), mRNA.	195							identical protein binding|metal ion binding|nucleotide binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	7						CACCTGCACACATGTACTGCT	0.587000														87			8		0	0	1	0	0
F8	2157	broad.mit.edu	37	X	154194307	154194307	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:154194307T>C	uc004fmt.3	-	8	1552	c.1381A>G	c.(1381-1383)Att>Gtt	p.I461V		NM_000132	NP_000123	P00451	FA8_HUMAN	Homo sapiens coagulation factor VIII, procoagulant component (F8), transcript variant 1, mRNA.	461	F5/8 type A 2.|Plastocyanin-like 3.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TCATGCTGAATAGCTTCACGA	0.393000														97			56		0	0	1	0	0
ARHGAP9	64333	broad.mit.edu	37	12	57867416	57867416	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57867416G>T	uc001sod.3	-	19	2457	c.2264C>A	c.(2263-2265)aCt>aAt	p.T755N	ARHGAP9_uc001sny.3_Non-coding_Transcript|ARHGAP9_uc001snz.3_Missense_Mutation_p.T481N|ARHGAP9_uc001soa.3_Missense_Mutation_p.T354N|ARHGAP9_uc001sob.3_Intron|ARHGAP9_uc001soc.3_Missense_Mutation_p.T665N	NM_032496	NP_115885	Q9BRR9	RHG09_HUMAN	Homo sapiens Rho GTPase activating protein 9 (ARHGAP9), transcript variant 1, mRNA.	684					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			GTACCGTAGAGTGTCATGGTT	0.502000														39			24		2.12542e-12	2.62166e-12	1	1	0
ZNF841	284371	broad.mit.edu	37	19	52569880	52569880	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:52569880G>A	uc010ydh.1	-	6	1715	c.1255C>T	c.(1255-1257)Cat>Tat	p.H419Y	ZNF841_uc002pyl.1_Missense_Mutation_p.H303Y	NM_001136499	NP_001129971	Q6ZN19	ZN841_HUMAN	Homo sapiens zinc finger protein 841 (ZNF841), mRNA.	303					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(3)|lung(3)	11						ATTATATGATGTGCAGTGAGG	0.388000														11			3		0	0	1	0	0
ACTN2	88	broad.mit.edu	37	1	236912466	236912466	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:236912466G>A	uc001hyf.2	+	13	1762	c.1558G>A	c.(1558-1560)Gag>Aag	p.E520K	ACTN2_uc001hyg.2_Missense_Mutation_p.E312K|ACTN2_uc009xgi.1_Missense_Mutation_p.E520K|ACTN2_uc010pxu.1_Missense_Mutation_p.E209K	NM_001103	NP_001094	P35609	ACTN2_HUMAN	Homo sapiens actinin, alpha 2 (ACTN2), mRNA.	520					focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	Z disc|actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium	FATZ 1 binding|ZASP binding|actin binding|calcium ion binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin Z domain binding|titin binding			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			GCTTCACCTGGAGTTTGCCAA	0.408000														63			22		0	0	1	0	0
SUGT1	10910	broad.mit.edu	37	13	53227196	53227196	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:53227196C>A	uc001vhc.2	+	1	279	c.54C>A	c.(52-54)ttC>ttA	p.F18L	SUGT1_uc001vhb.2_Missense_Mutation_p.F18L|SUGT1_uc010thb.1_5'UTR	NM_001130912	NP_001124384	Q9Y2Z0	SUGT1_HUMAN	Homo sapiens SGT1, suppressor of G2 allele of SKP1 (S. cerevisiae) (SUGT1), transcript variant 1B, mRNA.	18					mitosis	kinetochore|ubiquitin ligase complex	binding			kidney(3)|large_intestine(3)|lung(2)	8		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.25e-08)		TCCAGAGCTTCTCGGATGCCC	0.522000											OREG0022432	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		68			32		6.97489e-18	8.91555e-18	1	1	0
AZI2	64343	broad.mit.edu	37	3	28368334	28368334	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:28368334G>A	uc003ceb.3	-	6	1287	c.755C>T	c.(754-756)gCa>gTa	p.A252V	AZI2_uc003cec.3_Missense_Mutation_p.A140V|AZI2_uc003cee.4_Missense_Mutation_p.A252V	NM_022461	NP_071906	Q9H6S1	AZI2_HUMAN	Homo sapiens 5-azacytidine induced 2 (AZI2), transcript variant 1, mRNA.	252	Interaction with TBK1.					mitochondrion|plasma membrane				cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15						TTTCTTGATTGCAGTTGAGGT	0.398000														71			35		0	0	1	0	0
PHF11	51131	broad.mit.edu	37	13	50087244	50087244	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:50087244C>A	uc001vdb.3	+	2	603	c.266C>A	c.(265-267)cCt>cAt	p.P89H	PHF11_uc010tgl.2_Missense_Mutation_p.P89H|PHF11_uc001vdc.3_Missense_Mutation_p.P50H|PHF11_uc001vdd.3_Non-coding_Transcript	NM_001040443	NP_001035534	Q9UIL8	PHF11_HUMAN	Homo sapiens PHD finger protein 11 (PHF11), transcript variant 1, mRNA.	89					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			large_intestine(3)|lung(1)	4		Lung NSC(96;2.1e-05)|Breast(56;0.00017)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.38e-09)		CCACTTAATCCTGATAGAAGT	0.363000														43			4		0.00909568	0.00940365	1	1	0
FAM160A2	84067	broad.mit.edu	37	11	6235765	6235765	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6235765C>T	uc001mck.4	-	10	2834	c.2475G>A	c.(2473-2475)gcG>gcA	p.A825A	FAM160A2_uc001mcl.4_Silent_p.A811A	NM_032127	NP_115503	Q8N612	F16A2_HUMAN	Homo sapiens family with sequence similarity 160, member A2 (FAM160A2), transcript variant 1, mRNA.	811					early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CCTGGGAAGCCGCAAAGTTCT	0.532000														131			14		0	0	1	0	0
NETO1	81832	broad.mit.edu	37	18	70451004	70451004	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:70451004C>T	uc002lkw.3	-	6	1061	c.777G>A	c.(775-777)atG>atA	p.M259I	NETO1_uc002lky.2_Missense_Mutation_p.M259I	NM_001201465	NP_001188394	Q8TDF5	NETO1_HUMAN	Homo sapiens neuropilin (NRP) and tolloid (TLL)-like 1 (NETO1), transcript variant 4, mRNA.	259	CUB 2.				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity			NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		CCGTGCGTAGCATGACATCAT	0.478000														82			53		0	0	1	0	0
VPS4A	27183	broad.mit.edu	37	16	69356569	69356569	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:69356569C>A	uc002eww.3	+	9	1306	c.1178C>A	c.(1177-1179)cCt>cAt	p.P393H		NM_013245	NP_037377	Q9UN37	VPS4A_HUMAN	Homo sapiens vacuolar protein sorting 4 homolog A (S. cerevisiae) (VPS4A), mRNA.	393					cell cycle|cellular membrane organization|cytokinesis|endosome transport|protein transport	cytosol|late endosome membrane|midbody|perinuclear region of cytoplasm	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein domain specific binding			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(3)	7		Ovarian(137;0.101)				ATGGATGTCCCTGGGGACAAA	0.562000														57			9		0.000442599	0.000473562	1	1	0
MARK2	2011	broad.mit.edu	37	11	63676648	63676648	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:63676648C>T	uc001nxw.3	+	18	2885	c.2306C>T	c.(2305-2307)tCg>tTg	p.S769L	MARK2_uc001nxv.4_Missense_Mutation_p.S705L|MARK2_uc001nxx.3_Missense_Mutation_p.S700L|MARK2_uc001nxy.3_Missense_Mutation_p.S690L|MARK2_uc001nxz.4_Missense_Mutation_p.S726L|MARK2_uc009yoy.3_Missense_Mutation_p.S680L	NM_001039469	NP_001034558	Q7KZI7	MARK2_HUMAN	Homo sapiens MAP/microtubule affinity-regulating kinase 2 (MARK2), transcript variant 4, mRNA.	769	KA1.				cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress	plasma membrane	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	p.S726L(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						AAGCGGATATCGGGCACCTCC	0.612000														74			6		0	0	1	0	0
CHP2	63928	broad.mit.edu	37	16	23767169	23767169	+	Splice_Site	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:23767169C>T	uc002dmb.1	+	3	564	c.141_splice	c.e3-1	p.S47_splice		NM_022097	NP_071380	O43745	CHP2_HUMAN	Homo sapiens calcineurin B homologous protein 2 (CHP2), mRNA.	47	EF-hand 1.						calcium ion binding			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|stomach(1)	9				GBM - Glioblastoma multiforme(48;0.0144)		GCTTTGCAGCCGCATGGATCT	0.567000														33			20		0	0	1	0	0
FLNA	2316	broad.mit.edu	37	X	153587864	153587864	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153587864G>A	uc004fkk.2	-	23	4379	c.4130C>T	c.(4129-4131)aCt>aTt	p.T1377I	FLNA_uc011mzn.1_5'Flank|FLNA_uc010nuu.1_Missense_Mutation_p.T1377I	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	Homo sapiens filamin A, alpha (FLNA), transcript variant 2, mRNA.	1377					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	Fc-gamma receptor I complex binding|GTP-Ral binding|Rac GTPase binding|actin filament binding|glycoprotein binding|protein homodimerization activity|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGTCTCCACAGTGAACTTGTT	0.662000														190			110		0	0	1	0	0
MTUS1	57509	broad.mit.edu	37	8	17611316	17611316	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:17611316C>T	uc003wxv.3	-	1	2475	c.2001G>A	c.(1999-2001)aaG>aaA	p.K667K	MTUS1_uc010lsy.3_Non-coding_Transcript|MTUS1_uc003wxw.3_Silent_p.K667K|MTUS1_uc010lsz.3_Silent_p.K667K	NM_001001924	NP_001001924	Q9ULD2	MTUS1_HUMAN	Homo sapiens microtubule associated tumor suppressor 1 (MTUS1), transcript variant 1, mRNA.	667						Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		CTTTTTCACCCTTCTTTTCAG	0.353000														64			7		0	0	1	0	0
SIM1	6492	broad.mit.edu	37	6	100841384	100841384	+	Missense_Mutation	SNP	C	T	T	rs141685162		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:100841384C>T	uc003pqj.4	-	9	2016	c.1549G>A	c.(1549-1551)Gct>Act	p.A517T	SIM1_uc021zdg.1_Missense_Mutation_p.A517T|SIM1_uc010kcu.3_Missense_Mutation_p.A517T	NM_005068	NP_005059	P81133	SIM1_HUMAN	Homo sapiens single-minded homolog 1 (Drosophila) (SIM1), mRNA.	517	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	p.I516T(1)		breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		TGGACTGAAGCGATGTGAGGC	0.572000														51			32		0	0	1	0	0
ZNF668	79759	broad.mit.edu	37	16	31075731	31075731	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:31075731C>T	uc021tgt.1	-	2	475	c.119G>A	c.(118-120)cGc>cAc	p.R40H	ZNF668_uc010cag.2_Missense_Mutation_p.R17H|ZNF668_uc010caf.3_Missense_Mutation_p.R17H|ZNF668_uc002eao.3_Missense_Mutation_p.R17H	NM_001172669	NP_078982	Q96K58	ZN668_HUMAN	Homo sapiens zinc finger protein 668 (ZNF668), transcript variant 3, mRNA.	17					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						GCGGCCCGAGCGCTTGTAGCC	0.632000														29			27		0	0	1	0	0
MAN2A1	4124	broad.mit.edu	37	5	109159458	109159458	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:109159458T>C	uc003kou.1	+	15	3449	c.2486T>C	c.(2485-2487)gTg>gCg	p.V829A		NM_002372	NP_002363	Q16706	MA2A1_HUMAN	Homo sapiens mannosidase, alpha, class 2A, member 1 (MAN2A1), mRNA.	829					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		TTTGTCAGAGTGACACATGGA	0.338000														48			33		0	0	1	0	0
ZNF16	7564	broad.mit.edu	37	8	146157522	146157522	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:146157522G>T	uc003zet.3	-	3	838	c.651C>A	c.(649-651)acC>acA	p.T217T	ZNF16_uc003zeu.3_Silent_p.T217T	NM_001029976	NP_008889	P17020	ZNF16_HUMAN	Homo sapiens zinc finger protein 16 (ZNF16), transcript variant 2, mRNA.	217					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1)	29	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)		TTCCTTGGAAGGTTTTCCCAC	0.488000														132			19		5.03518e-11	6.129e-11	1	1	0
CDAN1	146059	broad.mit.edu	37	15	43026474	43026474	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:43026474G>T	uc001zql.3	-	6	1324	c.1207C>A	c.(1207-1209)Cca>Aca	p.P403T	CDAN1_uc001zqk.3_5'UTR|CDAN1_uc010bcx.1_Intron	NM_138477	NP_612486	Q8IWY9	CDAN1_HUMAN	Homo sapiens congenital dyserythropoietic anemia, type I (CDAN1), mRNA.	403						integral to membrane	protein binding	p.P403Q(1)		endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		TGCAGAGCTGGTGAGAAGCAC	0.562000														46			21		2.4624e-09	2.92908e-09	1	1	0
PPARGC1A	10891	broad.mit.edu	37	4	23803420	23803420	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:23803420G>A	uc003gqs.3	-	11	2346	c.2226C>T	c.(2224-2226)aaC>aaT	p.N742N	PPARGC1A_uc003gqt.3_Non-coding_Transcript	NM_013261	NP_037393	Q9UBK2	PRGC1_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator 1 alpha (PPARGC1A), mRNA.	742	RRM.				RNA splicing|androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mRNA processing|mitochondrion organization|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|RNA binding|RNA polymerase II transcription cofactor activity|androgen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|transcription factor binding			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				AGTCAGTTTCGTTTGACCTGC	0.413000														45			7		0	0	1	0	0
SMC5	23137	broad.mit.edu	37	9	72897424	72897424	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:72897424G>A	uc004ahr.2	+	6	1023	c.906G>A	c.(904-906)ggG>ggA	p.G302G		NM_015110	NP_055925	Q8IY18	SMC5_HUMAN	Homo sapiens structural maintenance of chromosomes 5 (SMC5), mRNA.	302					DNA recombination|DNA repair	chromosome|nucleus	ATP binding			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(4)	35						TTAAAGAAGGGCAGATTCCTG	0.368000														40			36		0	0	1	0	0
PCBP2	5094	broad.mit.edu	37	12	53865452	53865452	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:53865452G>A	uc001sdl.4	+	13	1272	c.922G>A	c.(922-924)Gcc>Acc	p.A308T	PCBP2_uc001sde.4_Missense_Mutation_p.A304T|PCBP2_uc001sdi.4_Missense_Mutation_p.A278T|PCBP2_uc001sdd.4_Missense_Mutation_p.A274T|PCBP2_uc001sdf.4_Missense_Mutation_p.A261T|PCBP2_uc001sdc.4_Missense_Mutation_p.A309T|PCBP2_uc001sdb.4_Missense_Mutation_p.A305T|PCBP2_uc010soi.2_Missense_Mutation_p.A46T|PCBP2_uc010soj.2_Missense_Mutation_p.A58T|PCBP2_uc001sdk.4_Missense_Mutation_p.A81T	NM_001128911	NP_001122383	Q15366	PCBP2_HUMAN	Homo sapiens poly(rC) binding protein 2 (PCBP2), transcript variant 4, mRNA.	308	KH 3.				innate immune response|negative regulation of defense response to virus|negative regulation of type I interferon production|nuclear mRNA splicing, via spliceosome|proteasomal ubiquitin-dependent protein catabolic process|response to virus	cytosol|nucleoplasm|ribonucleoprotein complex	DNA binding|RNA binding|ubiquitin protein ligase binding			central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15						GCGTCAAGGCGCCAAAATCAA	0.493000														10			21		0	0	1	0	0
ITGA10	8515	broad.mit.edu	37	1	145527702	145527702	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:145527702C>T	uc001eoa.3	+	1	218	c.142C>T	c.(142-144)Cat>Tat	p.H48Y	ITGA10_uc001enz.1_Missense_Mutation_p.H48Y|ITGA10_uc010oyv.2_Silent_p.N22N|ITGA10_uc009wiw.3_Intron|ITGA10_uc010oyw.2_5'Flank	NM_003637	NP_003628	O75578	ITA10_HUMAN	Homo sapiens integrin, alpha 10 (ITGA10), mRNA.	48					cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TGTCTTACAACATGTTGGGGG	0.537000														39			41		0	0	1	0	0
GPRIN2	9721	broad.mit.edu	37	10	46999227	46999227	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:46999227C>T	uc001jec.3	+	2	482	c.347C>T	c.(346-348)gCt>gTt	p.A116V	GPRIN2_uc021ppt.1_Missense_Mutation_p.A116V	NM_014696	NP_055511	O60269	GRIN2_HUMAN	Homo sapiens G protein regulated inducer of neurite outgrowth 2 (GPRIN2), mRNA.	116										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						AGTGCTGCTGCTATGCAGAGG	0.647000														16			4		0	0	1	0	0
ESX1	80712	broad.mit.edu	37	X	103499526	103499526	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:103499526T>C	uc004ely.3	-	0	74	c.5A>G	c.(4-6)gAg>gGg	p.E2G		NM_153448	NP_703149	Q8N693	ESX1_HUMAN	Homo sapiens ESX homeobox 1 (ESX1), mRNA.	2					negative regulation of transcription, DNA-dependent|regulation of cell cycle	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						GCGAAGAGACTCCATGCTTCA	0.592000														82			56		0	0	1	0	0
NOTCH4	4855	broad.mit.edu	37	6	32180367	32180367	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:32180367C>T	uc003obb.3	-	16	2703	c.2564G>A	c.(2563-2565)cGc>cAc	p.R855H	NOTCH4_uc011dpu.2_Non-coding_Transcript|NOTCH4_uc011dpv.2_Non-coding_Transcript	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	Homo sapiens notch 4 (NOTCH4), mRNA.	855	EGF-like 22.				Notch receptor processing|Notch signaling pathway|cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GTGGGAATTGCGTGGGCAGGG	0.607000														77			35		0	0	1	0	0
CCL26	10344	broad.mit.edu	37	7	75399066	75399066	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:75399066C>T	uc003udt.1	-	3	338	c.230G>A	c.(229-231)aGg>aAg	p.R77K		NM_006072	NP_006063	Q9Y258	CCL26_HUMAN	Homo sapiens chemokine (C-C motif) ligand 26 (CCL26), mRNA.	77					cell-cell signaling|chemotaxis|immune response|inflammatory response|positive regulation of Rac GTPase activity|positive regulation of actin filament polymerization|positive regulation of cell migration|positive regulation of endothelial cell proliferation|signal transduction	extracellular space	chemokine activity			lung(3)	3						CCATTTTTTCCTTGGATGGGT	0.438000														62			4		0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48315032	48315032	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:48315032G>T	uc003toq.2	+	16	5793	c.5769G>T	c.(5767-5769)aaG>aaT	p.K1923N	ABCA13_uc010kyr.2_Missense_Mutation_p.K1426N|ABCA13_uc022acp.1_Missense_Mutation_p.K422N	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	1923					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TTTGGCATAAGATATTACCGT	0.378000														147			72		1.34917e-44	1.79531e-44	1	1	0
FLNA	2316	broad.mit.edu	37	X	153592950	153592950	+	Missense_Mutation	SNP	G	T	T	rs137853311		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153592950G>T	uc004fkk.2	-	12	2215	c.1966C>A	c.(1966-1968)Ctc>Atc	p.L656I	FLNA_uc010nuu.1_Missense_Mutation_p.L656I	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	Homo sapiens filamin A, alpha (FLNA), transcript variant 2, mRNA.	656			L -> F (in PVNH1).		actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	Fc-gamma receptor I complex binding|GTP-Ral binding|Rac GTPase binding|actin filament binding|glycoprotein binding|protein homodimerization activity|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AAGGGGCTGAGGCGGATGTCT	0.622000														33			15		1.3612e-06	1.54683e-06	1	1	0
PHF20	51230	broad.mit.edu	37	20	34446286	34446286	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:34446286G>A	uc002xek.1	+	4	514	c.403G>A	c.(403-405)Gct>Act	p.A135T	PHF20_uc002xei.1_Missense_Mutation_p.A135T|PHF20_uc010gfo.1_Missense_Mutation_p.A135T|PHF20_uc002xej.1_Intron|PHF20_uc002xel.1_Silent_p.K3K	NM_016436	NP_057520	Q9BVI0	PHF20_HUMAN	Homo sapiens PHD finger protein 20 (PHF20), mRNA.	135					regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding			breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					TCATGTCAAAGCTTTTTCCAA	0.303000														73			31		0	0	1	0	0
DHCR24	1718	broad.mit.edu	37	1	55319198	55319198	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:55319198C>T	uc001cyc.1	-	7	1435	c.1306G>A	c.(1306-1308)Gac>Aac	p.D436N	DHCR24_uc010ooi.1_Missense_Mutation_p.D79N|DHCR24_uc010ooj.1_Missense_Mutation_p.D250N|DHCR24_uc010ook.1_Missense_Mutation_p.D395N	NM_014762	NP_055577	Q15392	DHC24_HUMAN	Homo sapiens 24-dehydrocholesterol reductase (DHCR24), mRNA.	436					anti-apoptosis|apoptosis|cell cycle arrest|cholesterol biosynthetic process|negative regulation of caspase activity|neuroprotection|response to oxidative stress|skin development	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|nucleus	delta24-sterol reductase activity|enzyme binding|flavin adenine dinucleotide binding|peptide antigen binding			large_intestine(2)|liver(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7						GCTCCAATGTCGATGTAGAGC	0.582000														14			14		0	0	1	0	0
TOM1	10043	broad.mit.edu	37	22	35741775	35741775	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:35741775G>A	uc003ann.3	+	12	1407	c.1282G>A	c.(1282-1284)Gtg>Atg	p.V428M	TOM1_uc011ami.2_Missense_Mutation_p.V395M|TOM1_uc003anp.3_Missense_Mutation_p.V428M|TOM1_uc011aml.2_Missense_Mutation_p.V383M|TOM1_uc011amk.2_Missense_Mutation_p.V390M|TOM1_uc003ano.3_Non-coding_Transcript|TOM1_uc011amj.2_Missense_Mutation_p.V271M	NM_005488	NP_005479	O60784	TOM1_HUMAN	Homo sapiens target of myb1 (chicken) (TOM1), transcript variant 1, mRNA.	428					endocytosis|endosome transport|intracellular protein transport	cytosol|early endosome|membrane	protein binding	p.D427Y(1)		NS(1)|breast(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)	19						GTCCACTGACGTGGTATGTTG	0.567000														46			4		0	0	1	0	0
ZBTB43	23099	broad.mit.edu	37	9	129596169	129596169	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:129596169C>T	uc022bnm.1	+	0	1381	c.1381C>T	c.(1381-1383)Cag>Tag	p.Q461*	ZBTB43_uc004bql.3_Nonsense_Mutation_p.Q461*|ZBTB43_uc010mxf.3_Nonsense_Mutation_p.Q461*	NM_014007	NP_054726	O43298	ZBT43_HUMAN	Homo sapiens zinc finger and BTB domain containing 43 (ZBTB43), transcript variant 1, mRNA.	461					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						AAAGGCTGAGCAGAATACAAC	0.428000														90			52		0	0	1	0	0
MLL2	8085	broad.mit.edu	37	19	36224743	36224743	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:36224743C>A	uc021usv.1	+	29	7129	c.7129C>A	c.(7129-7131)Ctg>Atg	p.L2377M	MLL2_uc021usu.1_Missense_Mutation_p.L1191M	NM_014727	NP_055542	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 4 (MLL4), mRNA.	705	Pro-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						CCCAGACCTGCTGCTTGAGTC	0.622000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				24			8		0.00307968	0.00322291	1	1	0
PCDHAC2	56134	broad.mit.edu	37	5	140249367	140249367	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140249367C>T	uc003lia.2	+	0	1537	c.679C>T	c.(679-681)Cgg>Tgg	p.R227W	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc011dae.2_Missense_Mutation_p.R227W	NM_018902	NP_061725	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 11 (PCDHA11), transcript variant 1, mRNA.	242	Cadherin 2.				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)			TGGCACCGTTCGGCTGTTAGT	0.413000														8			8		0	0	1	0	0
SLC12A9	56996	broad.mit.edu	37	7	100452273	100452273	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100452273G>T	uc003uwp.3	+	2	355	c.213G>T	c.(211-213)caG>caT	p.Q71H	SLC12A9_uc003uwo.1_Intron|SLC12A9_uc003uwq.3_Intron|SLC12A9_uc011kki.2_Intron|SLC12A9_uc003uwr.3_5'Flank|SLC12A9_uc003uws.3_5'Flank|SLC12A9_uc003uwt.3_5'Flank	NM_020246	NP_064631	Q9BXP2	S12A9_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 9 (SLC12A9), mRNA.	71						integral to membrane|plasma membrane	cation:chloride symporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					GGCTACTGCAGGCCCTGGCCA	0.632000														97			5		0.0215528	0.0220531	1	1	0
C11orf63	79864	broad.mit.edu	37	11	122828104	122828104	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:122828104A>G	uc001pym.3	+	7	2341	c.2044A>G	c.(2044-2046)Aaa>Gaa	p.K682E		NM_024806	NP_079082	Q6NUN7	CK063_HUMAN	Homo sapiens chromosome 11 open reading frame 63 (C11orf63), transcript variant 1, mRNA.	682										breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		GGAATATGCAAAACAAGTCAA	0.373000														98			7		0	0	1	0	0
RBM38	55544	broad.mit.edu	37	20	55982762	55982762	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:55982762G>A	uc010zzj.2	+	3	764	c.580G>A	c.(580-582)Gcc>Acc	p.A194T	MIR5095_uc021wfc.1_Intron|RBM38_uc010zzk.2_3'UTR	NM_017495	NP_059965	Q9H0Z9	RBM38_HUMAN	Homo sapiens RNA binding motif protein 38 (RBM38), transcript variant 1, mRNA.	194					3'-UTR-mediated mRNA stabilization|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 transcription of p21 class mediator|RNA splicing|cell cycle|cell cycle arrest|cell differentiation|mRNA processing|negative regulation of cell proliferation|regulation of RNA splicing	cytosol|nucleus	RNA binding|mRNA 3'-UTR binding|mRNA binding|nucleotide binding			large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9	Lung NSC(12;0.00242)|all_lung(29;0.00767)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;1.55e-12)|Epithelial(14;9.49e-09)|all cancers(14;5.01e-08)			CCCATACGCCGCCTCGCCTGC	0.697000														7			9		0	0	1	0	0
KIR2DL5B	553128	broad.mit.edu	37	GL000209.1	95476	95476	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrGL000209.1:95476T>C	uc002quk.1	+	7	917	c.862T>C	c.(862-864)Tct>Cct	p.S288P	KIR2DL2_uc002qtt.2_Intron|KIR2DL2_uc002qty.3_Intron|KIR2DL2_uc021vdb.1_Intron|KIR2DL2_uc010yie.2_Intron|KIR2DL2_uc002qul.2_5'Flank	NM_001018081	NP_001018091	Q8NHK4	Q8NHK4_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 5B (KIR2DL5B), mRNA.	288							receptor activity										TCTCCAGGACTCTGATGATCA	0.502000														68			11		0	0	1	0	0
FNBP1	23048	broad.mit.edu	37	9	132740835	132740835	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:132740835C>T	uc004byw.1	-	3	473	c.254G>A	c.(253-255)gGg>gAg	p.G85E	FNBP1_uc011mbv.1_Missense_Mutation_p.G85E|FNBP1_uc011mbw.1_Missense_Mutation_p.G85E|FNBP1_uc004bza.2_Missense_Mutation_p.G85E|FNBP1_uc004byz.1_Missense_Mutation_p.G85E|FNBP1_uc004byx.1_Missense_Mutation_p.G6E|FNBP1_uc004byy.1_Missense_Mutation_p.G6E	NM_015033	NP_055848	Q96RU3	FNBP1_HUMAN	Homo sapiens formin binding protein 1 (FNBP1), mRNA.	85	Interaction with microtubules (By similarity).|Self-association, lipid-binding and induction of membrane tubulation.				endocytosis	cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|lysosome|plasma membrane	identical protein binding|lipid binding						Ovarian(14;0.000536)		GBM - Glioblastoma multiforme(294;0.0378)		TTCATGCTGCCCTGCGTAATC	0.443000			T	MLL	AML									29			21		0	0	1	0	0
XPNPEP1	7511	broad.mit.edu	37	10	111631574	111631574	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:111631574C>T	uc001kyp.2	-	16	1618	c.1498G>A	c.(1498-1500)Gcc>Acc	p.A500T	XPNPEP1_uc009xxt.2_Missense_Mutation_p.A476T|XPNPEP1_uc001kyq.2_Missense_Mutation_p.A386T	NM_020383	NP_065116	Q9NQW7	XPP1_HUMAN	Homo sapiens X-prolyl aminopeptidase (aminopeptidase P) 1, soluble (XPNPEP1), transcript variant 1, mRNA.	457					bradykinin catabolic process|proteolysis		manganese ion binding|metalloaminopeptidase activity|protein homodimerization activity			endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1)	31		Breast(234;0.174)		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)		GGGAAAACGGCTGCACTCACA	0.463000														30			18		0	0	1	0	0
SEL1L3	23231	broad.mit.edu	37	4	25789846	25789846	+	Splice_Site	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:25789846C>A	uc003gru.4	-	13	2369	c.2217_splice	c.e13+1	p.K739_splice	SEL1L3_uc003grv.3_Splice_Site_p.K146_splice	NM_015187	NP_056002	Q68CR1	SE1L3_HUMAN	Homo sapiens sel-1 suppressor of lin-12-like 3 (C. elegans) (SEL1L3), mRNA.	739						integral to membrane	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						TGATTCTTACCTTGAATAGCA	0.493000														101			51		4.33383e-22	5.62456e-22	1	1	0
PCM1	5108	broad.mit.edu	37	8	17814820	17814820	+	Missense_Mutation	SNP	A	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:17814820A>T	uc022asj.1	+	10	1833	c.1811A>T	c.(1810-1812)aAt>aTt	p.N604I	PCM1_uc003wyi.4_Missense_Mutation_p.N565I|PCM1_uc011kyh.2_Missense_Mutation_p.N565I|PCM1_uc003wyj.4_Missense_Mutation_p.N565I|PCM1_uc010lta.1_Missense_Mutation_p.N604I	NM_006197	NP_006188	Q15154	PCM1_HUMAN	Homo sapiens pericentriolar material 1 (PCM1), mRNA.	565					G2/M transition of mitotic cell cycle|centrosome organization|cilium assembly|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding		PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		AGTCATAGTAATGCACAGTGT	0.358000			T	"""RET, JAK2"""	"""papillary thyroid, CML, MPD"""									116			8		0	0	1	0	0
GRK4	2868	broad.mit.edu	37	4	3029647	3029647	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:3029647C>T	uc003ggn.1	+	10	1434	c.979C>T	c.(979-981)Cgg>Tgg	p.R327W	GRK4_uc003ggo.1_Missense_Mutation_p.R327W|GRK4_uc003ggp.1_Missense_Mutation_p.R295W|GRK4_uc003ggq.1_Missense_Mutation_p.R295W	NM_182982	NP_892027	P32298	GRK4_HUMAN	Homo sapiens G protein-coupled receptor kinase 4 (GRK4), transcript variant 1, mRNA.	327	Protein kinase.					cell cortex	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			lung(1)|upper_aerodigestive_tract(1)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		AGGACACATCCGGATTTCAGA	0.483000														48			7		0	0	1	0	0
BMP6	654	broad.mit.edu	37	6	7862681	7862681	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:7862681G>A	uc003mxu.4	+	3	1332	c.1154G>A	c.(1153-1155)cGt>cAt	p.R385H		NM_001718	NP_001709	P22004	BMP6_HUMAN	Homo sapiens bone morphogenetic protein 6 (BMP6), mRNA.	385					BMP signaling pathway|SMAD protein signal transduction|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter	extracellular space	BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23	Ovarian(93;0.0721)					CAACAGAGTCGTAATCGCTCT	0.597000														41			13		0	0	1	0	0
ZBTB7A	51341	broad.mit.edu	37	19	4054174	4054174	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:4054174G>T	uc002lzh.3	-	1	1132	c.1057C>A	c.(1057-1059)Ctg>Atg	p.L353M	ZBTB7A_uc002lzi.3_Missense_Mutation_p.L353M	NM_015898	NP_056982	O95365	ZBT7A_HUMAN	Homo sapiens zinc finger and BTB domain containing 7A (ZBTB7A), mRNA.	353					cell differentiation|multicellular organismal development|transcription, DNA-dependent	nucleus	DNA binding|histone acetyltransferase binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.014)|STAD - Stomach adenocarcinoma(1328;0.18)		AAGTACTTCAGGTAGTAGTCC	0.667000														34			16		6.49762e-13	8.04122e-13	1	1	0
SMCHD1	23347	broad.mit.edu	37	18	2738483	2738483	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:2738483G>A	uc002klm.4	+	25	3554	c.3365G>A	c.(3364-3366)cGc>cAc	p.R1122H	SMCHD1_uc002klk.4_Non-coding_Transcript|SMCHD1_uc002kll.4_Non-coding_Transcript	NM_015295	NP_056110	A6NHR9	SMHD1_HUMAN	Homo sapiens structural maintenance of chromosomes flexible hinge domain containing 1 (SMCHD1), mRNA.	1122					chromosome organization		ATP binding			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						AAAGATATGCGCTATTGCCAG	0.398000														26			8		0	0	1	0	0
RBL2	5934	broad.mit.edu	37	16	53496517	53496517	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:53496517G>A	uc002ehi.4	+	10	1628	c.1510G>A	c.(1510-1512)Gaa>Aaa	p.E504K	RBL2_uc010vgv.1_Missense_Mutation_p.E430K|RBL2_uc002ehj.3_Missense_Mutation_p.E214K|RBL2_uc010vgw.2_Missense_Mutation_p.E288K	NM_005611	NP_005602	Q08999	RBL2_HUMAN	Homo sapiens retinoblastoma-like 2 (p130) (RBL2), mRNA.	504	Domain A.|Pocket; binds E1A.				cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						TAAAGTATTAGAATCTGTTAT	0.323000														33			23		0	0	1	0	0
ZNF300	91975	broad.mit.edu	37	5	150276353	150276353	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:150276353A>C	uc021yfx.1	-	6	924	c.496T>G	c.(496-498)Ttt>Gtt	p.F166V	ZNF300_uc021yfy.1_Missense_Mutation_p.F150V|ZNF300_uc021yfz.1_Missense_Mutation_p.F114V	NM_001172831	NP_001166303	Q96RE9	ZN300_HUMAN	Homo sapiens zinc finger protein 300 (ZNF300), transcript variant 1, mRNA.	150					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTGTTAACAAATGTGACCTGC	0.393000														85			47		0	0	1	0	0
ABCD1	215	broad.mit.edu	37	X	152991339	152991339	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:152991339C>T	uc004fif.2	+	0	1017	c.618C>T	c.(616-618)gcC>gcT	p.A206A	BCAP31_uc004fid.2_5'Flank|BCAP31_uc011myz.1_5'Flank|BCAP31_uc011mza.1_5'Flank|BCAP31_uc004fie.2_5'Flank	NM_000033	NP_000024	P33897	ABCD1_HUMAN	Homo sapiens ATP-binding cassette, sub-family D (ALD), member 1 (ABCD1), mRNA.	206	ABC transmembrane type-1.				fatty acid beta-oxidation using acyl-CoA oxidase|peroxisomal membrane transport|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|identical protein binding|peroxisomal fatty-acyl-CoA transporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(2)	18	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCTTTGCGGCCTCTGTGGCCC	0.642000														29			17		0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	131831449	131831449	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:131831449G>A	uc003vra.4	-	27	5104	c.4875C>T	c.(4873-4875)atC>atT	p.I1625I	PLXNA4_uc003vqz.4_5'Flank	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	1625						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CCGTGTACCGGATCATGTTTT	0.577000														104			44		0	0	1	0	0
TTC5	91875	broad.mit.edu	37	14	20757814	20757814	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:20757814G>A	uc001vwt.3	-	9	1352	c.1295C>T	c.(1294-1296)aCa>aTa	p.T432I	TTC5_uc001vwu.3_Missense_Mutation_p.T289I	NM_138376	NP_612385	Q8N0Z6	TTC5_HUMAN	Homo sapiens tetratricopeptide repeat domain 5 (TTC5), mRNA.	432					DNA repair	cytoplasm|nucleus	binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_cancers(95;0.00092)		Epithelial(56;1.1e-06)|all cancers(55;8.07e-06)	GBM - Glioblastoma multiforme(265;0.0106)		CGATGCCACTGTGGCAACAGC	0.562000														24			3		0	0	1	0	0
ICAM2	3384	broad.mit.edu	37	17	62082676	62082676	+	Missense_Mutation	SNP	G	A	A	rs150482335	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:62082676G>A	uc002jdu.4	-	1	351	c.119C>T	c.(118-120)cCc>cTc	p.P40L	ICAM2_uc002jdw.4_Missense_Mutation_p.P40L|ICAM2_uc010ded.3_Missense_Mutation_p.P40L|ICAM2_uc002jdx.4_Missense_Mutation_p.P40L|ICAM2_uc002jdv.4_Missense_Mutation_p.P40L|ICAM2_uc010wpx.1_Missense_Mutation_p.P40L	NM_000873	NP_001093259	P13598	ICAM2_HUMAN	Homo sapiens intercellular adhesion molecule 2 (ICAM2), transcript variant 5, mRNA.	40					cell-cell adhesion|regulation of immune response	integral to plasma membrane	integrin binding			large_intestine(1)|lung(2)|ovary(1)|skin(2)	6						GGACCCTTTGGGCTCAACCGC	0.557000														19			16		0	0	1	0	0
LRRC55	219527	broad.mit.edu	37	11	56949379	56949379	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:56949379C>T	uc001njl.2	+	0	159	c.12C>T	c.(10-12)agC>agT	p.S4S		NM_001005210	NP_001005210	Q6ZSA7	LRC55_HUMAN	Homo sapiens leucine rich repeat containing 55 (LRRC55), mRNA.	0						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						TGCTCAGAAGCCCCACCTTCA	0.597000														23			6		0	0	1	0	0
GJD4	219770	broad.mit.edu	37	10	35896773	35896773	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:35896773G>A	uc001iyy.1	+	1	490	c.332G>A	c.(331-333)tGc>tAc	p.C111Y		NM_153368	NP_699199	Q96KN9	CXD4_HUMAN	Homo sapiens gap junction protein, delta 4, 40.1kDa (GJD4), mRNA.	111					cell communication	connexon complex|integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						CCCCGCCGCTGCCCCGACCCC	0.746000														4			5		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140249195	140249195	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140249195C>A	uc003lia.2	+	0	1365	c.507C>A	c.(505-507)acC>acA	p.T169T	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc011dae.2_Silent_p.T169T	NM_018902	NP_061725	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 11 (PCDHA11), transcript variant 1, mRNA.	184	Cadherin 2.				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)			CTCTATTGACCTACAGGCTAA	0.388000														134			14		6.31663e-08	7.34157e-08	1	1	0
HUWE1	10075	broad.mit.edu	37	X	53561480	53561480	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:53561480A>C	uc004dsp.3	-	81	13230	c.12828T>G	c.(12826-12828)atT>atG	p.I4276M	HUWE1_uc004dsn.3_Missense_Mutation_p.I3084M	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	Homo sapiens HECT, UBA and WWE domain containing 1 (HUWE1), mRNA.	4276	HECT.				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						AGCTCACCTGAATAGAGTTGG	0.463000														50			16		0	0	1	0	0
RRM1	6240	broad.mit.edu	37	11	4123242	4123242	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:4123242C>T	uc001lyw.4	+	1	358	c.39C>T	c.(37-39)gtC>gtT	p.V13V	RRM1_uc009yeh.1_5'UTR|RRM1_uc009yei.3_5'UTR|RRM1_uc010qyc.2_5'UTR	NM_001033	NP_001024	P23921	RIR1_HUMAN	Homo sapiens ribonucleotide reductase M1 (RRM1), mRNA.	13	ATP-cone.|Allosteric activator binding (By similarity).				DNA replication|deoxyribonucleotide biosynthetic process|nucleobase, nucleoside and nucleotide interconversion	cytosol|nucleoplasm|ribonucleoside-diphosphate reductase complex	ATP binding|ribonucleoside-diphosphate reductase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)	14		Medulloblastoma(188;0.0025)|Breast(177;0.00502)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0848)|LUSC - Lung squamous cell carcinoma(625;0.205)	Clofarabine(DB00631)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Hydroxyurea(DB01005)	AAGAACGAGTCATGTTTGACA	0.318000														62			5		0	0	1	0	0
CCKAR	886	broad.mit.edu	37	4	26490892	26490892	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:26490892G>A	uc003gse.1	-	1	480	c.327C>T	c.(325-327)ttC>ttT	p.F109F		NM_000730	NP_000721	P32238	CCKAR_HUMAN	Homo sapiens cholecystokinin A receptor (CCKAR), mRNA.	109					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity	p.F109F(2)		NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	CGGCGCTCCCGAAGATGAAAT	0.557000														81			52		0	0	1	0	0
CCDC92	80212	broad.mit.edu	37	12	124421701	124421701	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:124421701C>T	uc001ufw.1	-	4	1047	c.900G>A	c.(898-900)ccG>ccA	p.P300P	CCDC92_uc001ufv.1_Silent_p.P283P|CCDC92_uc001ufx.1_Silent_p.P300P	NM_025140	NP_079416	Q53HC0	CCD92_HUMAN	Homo sapiens coiled-coil domain containing 92 (CCDC92), mRNA.	300										large_intestine(5)|lung(2)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.0002)|OV - Ovarian serous cystadenocarcinoma(86;0.000222)|all cancers(50;0.00129)|BRCA - Breast invasive adenocarcinoma(302;0.242)		GGGCCTGCGGCGGGGTGGCGT	0.687000														17			15		0	0	1	0	0
APOD	347	broad.mit.edu	37	3	195300836	195300836	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:195300836C>T	uc003fur.2	-	2	492	c.130G>A	c.(130-132)Gga>Aga	p.G44R	APOD_uc011bsx.1_Missense_Mutation_p.G44R	NM_001647	NP_001638	P05090	APOD_HUMAN	Homo sapiens apolipoprotein D (APOD), mRNA.	44					lipid metabolic process	extracellular space	lipid binding|lipid transporter activity|protein binding			breast(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		TACCATCTTCCGAGATACTGC	0.498000														27			23		0	0	1	0	0
NEU4	129807	broad.mit.edu	37	2	242757436	242757436	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:242757436C>T	uc002wcp.2	+	3	1050	c.556C>T	c.(556-558)Ctg>Ttg	p.L186L	NEU4_uc010fzr.3_Silent_p.L173L|NEU4_uc002wcm.3_Silent_p.L173L|NEU4_uc002wco.2_Silent_p.L173L|NEU4_uc002wcn.2_Silent_p.L185L	NM_001167599	NP_001161074	Q8WWR8	NEUR4_HUMAN	Homo sapiens sialidase 4 (NEU4), transcript variant 2, mRNA.	173						lysosomal lumen|organelle inner membrane	exo-alpha-sialidase activity|protein binding			breast(1)|lung(10)|prostate(2)|skin(2)	15		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)		AGGCCGCCTGCTGGTACCCGC	0.677000														9			4		0	0	1	0	0
MDFI	4188	broad.mit.edu	37	6	41617440	41617440	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:41617440C>T	uc003oqq.4	+	3	550	c.343C>T	c.(343-345)Cgg>Tgg	p.R115W	MDFI_uc010jxn.3_Missense_Mutation_p.R115W	NM_005586	NP_005577	Q99750	MDFI_HUMAN	Homo sapiens MyoD family inhibitor (MDFI), mRNA.	115					cytoplasmic sequestering of transcription factor|dorsal/ventral axis specification|negative regulation of DNA binding|negative regulation of Wnt receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|prostate(2)|skin(1)|urinary_tract(1)	8	Ovarian(28;0.0327)|Colorectal(47;0.121)		Colorectal(64;0.0123)|COAD - Colon adenocarcinoma(64;0.0264)|KIRC - Kidney renal clear cell carcinoma(1;0.138)			CGGCACCAGACGGGCGGGGAA	0.647000														181			16		0	0	1	0	0
AP3D1	8943	broad.mit.edu	37	19	2116215	2116215	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:2116215C>T	uc002lva.3	-	17	2287	c.2064G>A	c.(2062-2064)tcG>tcA	p.S688S	AP3D1_uc002luy.3_Silent_p.S597S|AP3D1_uc002luz.3_Silent_p.S688S	NM_003938	NP_003929	O14617	AP3D1_HUMAN	Homo sapiens adaptor-related protein complex 3, delta 1 subunit (AP3D1), transcript variant 2, mRNA.	688					eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	Golgi membrane|endosome membrane|membrane coat	binding|protein transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTTCTGTGGCGATGGCGAGC	0.652000														20			8		0	0	1	0	0
GRM8	2918	broad.mit.edu	37	7	126173388	126173388	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:126173388G>T	uc003vlr.2	-	7	2359	c.2048C>A	c.(2047-2049)tCt>tAt	p.S683Y	GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Missense_Mutation_p.S683Y|GRM8_uc010lkz.1_Non-coding_Transcript	NM_000845	NP_000836	O00222	GRM8_HUMAN	Homo sapiens glutamate receptor, metabotropic 8 (GRM8), transcript variant 1, mRNA.	683					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	CGCTGTGACAGATTTCTTCCC	0.502000										HNSCC(24;0.065)				52			27		6.38683e-12	7.84313e-12	1	1	0
HERC2	8924	broad.mit.edu	37	15	28369239	28369239	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:28369239G>A	uc001zbj.3	-	84	13238	c.13132C>T	c.(13132-13134)Ctc>Ttc	p.L4378F		NM_004667	NP_004658	O95714	HERC2_HUMAN	Homo sapiens hect domain and RLD 2 (HERC2), mRNA.	4378					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GAAGGCCCGAGTCCAGTTTCG	0.562000														30			17		0	0	1	0	0
KIR2DL1	3802	broad.mit.edu	37	19	55250031	55250031	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:55250031C>A	uc002qgx.3	+	0	58	c.21C>A	c.(19-21)agC>agA	p.S7R	KIR2DL1_uc010erw.1_Missense_Mutation_p.S7R|KIR2DL1_uc002qgz.1_5'Flank	NM_015868	NP_056952	P43626	KI2L1_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3 (KIR2DL3), mRNA.	7					immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17				GBM - Glioblastoma multiforme(193;0.0192)		TGGTCGTCAGCATGGTGTGTG	0.612000											OREG0003673	type=REGULATORY REGION|Gene=KIR2DL3|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		8			21		4.7796e-09	5.65454e-09	1	1	0
VPS13A	23230	broad.mit.edu	37	9	79954682	79954682	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:79954682C>T	uc004akr.3	+	47	6889	c.6629C>T	c.(6628-6630)gCa>gTa	p.A2210V	VPS13A_uc004akp.4_Missense_Mutation_p.A2210V|VPS13A_uc004akq.4_Missense_Mutation_p.A2210V|VPS13A_uc004aks.3_Missense_Mutation_p.A2171V	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog A (S. cerevisiae) (VPS13A), transcript variant A, mRNA.	2210					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						ACAGTTGTGGCATTTCATAGT	0.368000														87			39		0	0	1	0	0
C1orf227	149643	broad.mit.edu	37	1	213009370	213009370	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:213009370A>G	uc001hjq.3	-	1	230	c.122T>C	c.(121-123)gTc>gCc	p.V41A		NM_001024601	NP_001019772	Q537H7	CA227_HUMAN	Homo sapiens chromosome 1 open reading frame 227 (C1orf227), mRNA.	41										kidney(1)|large_intestine(1)|lung(1)	3						CAGTAAGCTGACTTGATTGCT	0.443000														176			27		0	0	1	0	0
OR51E2	81285	broad.mit.edu	37	11	4703653	4703653	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:4703653G>T	uc001lzk.2	-	1	533	c.289C>A	c.(289-291)Ctt>Att	p.L97I	OR51E2_uc021qcr.1_Missense_Mutation_p.L97I	NM_030774	NP_110401	Q9H255	O51E2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily E, member 2 (OR51E2), mRNA.	97					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)		ATCTGGGTAAGACAGGCCTCA	0.517000														35			5		1.23904e-05	1.3743e-05	1	1	0
VWA3B	200403	broad.mit.edu	37	2	98736143	98736143	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:98736143G>T	uc002syo.3	+	3	723	c.459G>T	c.(457-459)gaG>gaT	p.E153D	VWA3B_uc010yvh.2_Intron|VWA3B_uc002syj.3_Non-coding_Transcript|VWA3B_uc002syk.1_Non-coding_Transcript|VWA3B_uc002syl.1_5'UTR|VWA3B_uc002sym.3_Missense_Mutation_p.E153D|VWA3B_uc002syn.1_Non-coding_Transcript	NM_144992	NP_659429	Q502W6	VWA3B_HUMAN	Homo sapiens von Willebrand factor A domain containing 3B (VWA3B), mRNA.	153										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						GCATTCTGGAGGGGGAGCTTG	0.522000														190			21		5.26018e-13	6.52578e-13	1	1	0
DBR1	51163	broad.mit.edu	37	3	137881272	137881272	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:137881272G>T	uc003erv.3	-	7	1248	c.1094C>A	c.(1093-1095)cCt>cAt	p.P365H	DBR1_uc003eru.3_Missense_Mutation_p.P314H|DBR1_uc003ert.3_Missense_Mutation_p.P133H	NM_016216	NP_057300	Q9UK59	DBR1_HUMAN	Homo sapiens debranching enzyme homolog 1 (S. cerevisiae) (DBR1), mRNA.	365						nucleus	RNA lariat debranching enzyme activity|metal ion binding			NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						AGTTGTCTGAGGATTGATCCT	0.403000														47			28		2.46105e-21	3.1844e-21	1	1	0
ZNF134	7693	broad.mit.edu	37	19	58131538	58131538	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58131538T>C	uc002qpn.2	+	2	150	c.51T>C	c.(49-51)caT>caC	p.H17H	ZNF134_uc002qpo.2_5'UTR|ZNF211_uc010yhb.1_5'Flank	NM_003435	NP_003426	P52741	ZN134_HUMAN	Homo sapiens zinc finger protein 134 (ZNF134), mRNA.	17						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(3)|prostate(1)	11		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		GTTGTTGGCATGAAGTGAAGG	0.458000														80			8		0	0	1	0	0
FITM1	161247	broad.mit.edu	37	14	24601453	24601453	+	Missense_Mutation	SNP	C	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:24601453C>G	uc001wmf.2	+	1	398	c.300C>G	c.(298-300)tgC>tgG	p.C100W		NM_203402	NP_981947	A5D6W6	FITM1_HUMAN	Homo sapiens fat storage-inducing transmembrane protein 1 (FITM1), mRNA.	100					lipid particle organization|positive regulation of sequestering of triglyceride	endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	11						GCTGGACATGCACTTTCTTAG	0.567000														47			23		0	0	1	0	0
MOB3C	148932	broad.mit.edu	37	1	47080742	47080742	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:47080742G>A	uc001cqe.4	-	0	64	c.7C>T	c.(7-9)Cgc>Tgc	p.R3C	MKNK1_uc010omf.1_Intron|MOB3C_uc001cqf.4_Intron	NM_145279	NP_958805	Q70IA8	MOL2C_HUMAN	Homo sapiens MOB kinase activator 3C (MOB3C), transcript variant 1, mRNA.	0							metal ion binding										AGATTTCTGCGCTTCATTTGC	0.517000														38			21		0	0	1	0	0
NRCAM	4897	broad.mit.edu	37	7	107834511	107834511	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:107834511C>T	uc022aka.1	-	13	1841	c.1735G>A	c.(1735-1737)Gtc>Atc	p.V579I	NRCAM_uc011kmk.2_Missense_Mutation_p.V579I|NRCAM_uc003vfd.3_Missense_Mutation_p.V560I|NRCAM_uc003vfe.3_Missense_Mutation_p.V560I|NRCAM_uc003vfc.3_Missense_Mutation_p.V573I	NM_001037132	NP_001032209	Q92823	NRCAM_HUMAN	Homo sapiens neuronal cell adhesion molecule (NRCAM), transcript variant 1, mRNA.	579	Ig-like 6.				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						AGCCACAGGACAGTGAGGGAT	0.418000														52			52		0	0	1	0	0
AMDHD1	144193	broad.mit.edu	37	12	96359553	96359553	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:96359553C>T	uc001tel.2	+	6	1134	c.1028C>T	c.(1027-1029)tCa>tTa	p.S343L	AMDHD1_uc009zth.2_Missense_Mutation_p.S234L	NM_152435	NP_689648	Q96NU7	HUTI_HUMAN	Homo sapiens amidohydrolase domain containing 1 (AMDHD1), mRNA.	343					histidine catabolic process to glutamate and formamide	cytosol	imidazolonepropionase activity|metal ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|skin(1)	22						TATTGCTTTTCAATGGTAATT	0.338000														59			6		0	0	1	0	0
ARAP3	64411	broad.mit.edu	37	5	141041299	141041299	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:141041299G>A	uc003llm.3	-	20	3149	c.3071C>T	c.(3070-3072)cCg>cTg	p.P1024L	ARAP3_uc003lll.3_5'UTR|ARAP3_uc011dbe.2_Missense_Mutation_p.P686L|ARAP3_uc003lln.3_Missense_Mutation_p.P855L	NM_022481	NP_071926	Q8WWN8	ARAP3_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 (ARAP3), mRNA.	1024	Rho-GAP.				cytoskeleton organization|negative regulation of Rho protein signal transduction|negative regulation of cell migration|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|Rho GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						GTTGACCCGCGGCAGGCAGCC	0.572000														90			6		0	0	1	0	0
KDM4D	55693	broad.mit.edu	37	11	94730996	94730996	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:94730996C>T	uc021qow.1	+	0	460	c.460C>T	c.(460-462)Ctt>Ttt	p.L154F	KDM4D_uc001pfe.3_Missense_Mutation_p.L154F	NM_018039	NP_060509	Q6B0I6	KDM4D_HUMAN	Homo sapiens lysine (K)-specific demethylase 4D (KDM4D), mRNA.	154	JmjC.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(16)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						ACAATGGAATCTTGGGCACCT	0.438000														37			40		0	0	1	0	0
RFC4	5984	broad.mit.edu	37	3	186522387	186522387	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:186522387G>A	uc003fqz.3	-	1	339	c.116C>T	c.(115-117)cCc>cTc	p.P39L	RFC4_uc011bsc.2_Missense_Mutation_p.P39L|RFC4_uc011bsd.2_Missense_Mutation_p.P39L	NM_002916	NP_853551	P35249	RFC4_HUMAN	Homo sapiens replication factor C (activator 1) 4, 37kDa (RFC4), transcript variant 1, mRNA.	39					DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle|cell cycle checkpoint|nucleotide-excision repair, DNA gap filling|phosphatidylinositol-mediated signaling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|protein binding	p.P39L(2)		breast(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_cancers(143;2.92e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)	GBM - Glioblastoma multiforme(93;0.0739)		TTCCACCCAGGGAACGGGTTT	0.398000														96			50		0	0	1	0	0
KLF3	51274	broad.mit.edu	37	4	38690303	38690303	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:38690303G>A	uc003gth.4	+	2	487	c.155G>A	c.(154-156)gGt>gAt	p.G52D	KLF3_uc003gtg.2_Missense_Mutation_p.G52D	NM_016531	NP_057615	P57682	KLF3_HUMAN	Homo sapiens Kruppel-like factor 3 (basic) (KLF3), mRNA.	52	Pro-rich.|Repressor domain.				multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(5)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	18						ACCCCAGAAGGTCTGTCGCAC	0.517000														48			6		0	0	1	0	0
CD2AP	23607	broad.mit.edu	37	6	47580272	47580272	+	Splice_Site	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:47580272G>T	uc003oyw.3	+	17	2334	c.1878_splice	c.e17+1	p.E626_splice		NM_012120	NP_036252	Q9Y5K6	CD2AP_HUMAN	Homo sapiens CD2-associated protein (CD2AP), mRNA.	626					cell division|mitosis|protein complex assembly|signal transduction|substrate-dependent cell migration, cell extension	cytoplasm|filamentous actin|nucleolus|plasma membrane|ruffle	SH3 domain binding|structural constituent of cytoskeleton			kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	20			Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)			GTAATCTAGAGGTAATTAATT	0.348000														12			10		1.08611e-07	1.25606e-07	1	1	0
OR2W3	343171	broad.mit.edu	37	1	248059544	248059544	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:248059544G>T	uc010pzb.2	+	0	656	c.656G>T	c.(655-657)aGc>aTc	p.S219I	OR2W3_uc001idp.1_Missense_Mutation_p.S219I	NM_001001957	NP_001001957	Q7Z3T1	OR2W3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily W, member 3 (OR2W3), mRNA.	219					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Y218*(1)		breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CTCTCTTACAGCTACATTGTG	0.562000														82			64		1.11378e-47	1.48392e-47	1	1	0
HNF4G	3174	broad.mit.edu	37	8	76471094	76471094	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:76471094C>T	uc003yaq.3	+	8	1074	c.804C>T	c.(802-804)atC>atT	p.I268I	HNF4G_uc003yar.3_Silent_p.I305I	NM_004133	NP_004124	Q14541	HNF4G_HUMAN	Homo sapiens hepatocyte nuclear factor 4, gamma (HNF4G), mRNA.	268					endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			AAGTGCAGATCGGTTTGGAGG	0.468000														58			5		0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152462343	152462343	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:152462343G>A	uc021zhb.1	-	136	25464	c.25241C>T	c.(25240-25242)aCg>aTg	p.T8414M	SYNE1_uc003qos.4_Missense_Mutation_p.T2938M|SYNE1_uc003qot.4_Missense_Mutation_p.T8366M|SYNE1_uc003qou.4_Missense_Mutation_p.T8414M|SYNE1_uc011eez.2_Missense_Mutation_p.T616M|SYNE1_uc003qoq.4_Missense_Mutation_p.T616M|SYNE1_uc003qor.4_Missense_Mutation_p.T1337M	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	8414					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding	p.T8414M(3)|p.Q8413K(1)		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)		CTCACCAGCCGTTTGGGTTTC	0.478000										HNSCC(10;0.0054)				69			46		0	0	1	0	0
PKN1	5585	broad.mit.edu	37	19	14581099	14581099	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:14581099C>T	uc002myp.3	+	18	2586	c.2418C>T	c.(2416-2418)taC>taT	p.Y806Y	PKN1_uc002myq.3_Silent_p.Y812Y	NM_002741	NP_002732	Q16512	PKN1_HUMAN	Homo sapiens protein kinase N1 (PKN1), transcript variant 2, mRNA.	806	Protein kinase.				activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	endosome|nucleus|plasma membrane	ATP binding|GTP-Rho binding|Rac GTPase binding|androgen receptor binding|chromatin binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding			breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						TGCTGCTCTACGAGATGCTGG	0.637000														24			4		0	0	1	0	0
C9orf131	138724	broad.mit.edu	37	9	35045619	35045619	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:35045619G>T	uc003zvw.3	+	1	3022	c.2993G>T	c.(2992-2994)aGc>aTc	p.S998I	C9orf131_uc003zvu.3_Missense_Mutation_p.S950I|C9orf131_uc003zvv.3_Missense_Mutation_p.S925I|C9orf131_uc003zvx.3_Missense_Mutation_p.S963I	NM_203299	NP_976044	Q5VYM1	CI131_HUMAN	Homo sapiens chromosome 9 open reading frame 131 (C9orf131), transcript variant 1, mRNA.	998										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			AGGGGCCAGAGCTCTCAACAC	0.582000														41			33		9.17885e-22	1.18973e-21	1	1	0
NSMCE1	197370	broad.mit.edu	37	16	27268844	27268844	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:27268844C>T	uc002doi.1	-	1	146	c.48G>A	c.(46-48)cgG>cgA	p.R16R	NSMCE1_uc002doj.1_Non-coding_Transcript	NM_145080	NP_659547	Q8WV22	NSE1_HUMAN	Homo sapiens non-SMC element 1 homolog (S. cerevisiae) (NSMCE1), mRNA.	16					DNA recombination|DNA repair|intracellular signal transduction	nucleus	zinc ion binding			endometrium(2)|large_intestine(2)|lung(3)	7						GGAGGAAGCGCCGGTGGACAT	0.542000														47			42		0	0	1	0	0
ZNF140	7699	broad.mit.edu	37	12	133682649	133682649	+	Silent	SNP	A	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:133682649A>T	uc001ulo.3	+	4	1456	c.786A>T	c.(784-786)cgA>cgT	p.R262R	ZNF140_uc001ulp.3_Silent_p.R159R|ZNF140_uc010tbu.2_Silent_p.R159R	NM_003440	NP_003431	P52738	ZN140_HUMAN	Homo sapiens zinc finger protein 140 (ZNF140), mRNA.	262						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.114)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		ACCTCACTCGACATCAAAGAA	0.413000														24			19		0	0	1	0	0
FAM82A1	151393	broad.mit.edu	37	2	38178566	38178566	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:38178566C>A	uc002rqn.2	+	1	334	c.208C>A	c.(208-210)Cca>Aca	p.P70T	FAM82A1_uc002rqk.1_Intron|FAM82A1_uc002rql.3_Intron|FAM82A1_uc021vga.1_Intron|FAM82A1_uc002rqm.3_Intron	NM_144713	NP_653314	Q96LZ7	RMD2_HUMAN	Homo sapiens family with sequence similarity 82, member A1 (FAM82A1), transcript variant 1, mRNA.	0						cytoplasm|integral to membrane|microtubule|spindle pole	binding			endometrium(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	13						TGTATCAAGTCCATCTTTCTC	0.343000														60			32		1.30897e-18	1.68055e-18	1	1	0
SRSF12	135295	broad.mit.edu	37	6	89808362	89808362	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:89808362C>T	uc021zcq.1	-	4	915	c.721G>A	c.(721-723)Gca>Aca	p.A241T		NM_080743	NP_542781	Q8WXF0	SRS12_HUMAN	Homo sapiens serine/arginine-rich splicing factor 12 (SRSF12), mRNA.	241	Arg/Ser-rich (RS domain).				assembly of spliceosomal tri-snRNP|cytoplasmic transport|negative regulation of nuclear mRNA splicing, via spliceosome|nuclear mRNA 5'-splice site recognition|regulation of alternative nuclear mRNA splicing, via spliceosome	nucleoplasm	RNA binding|RS domain binding|nucleotide binding|unfolded protein binding			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)	8						GAATGCTTTGCTGTTTGTACT	0.393000														54			39		0	0	1	0	0
MDC1	9656	broad.mit.edu	37	6	30680666	30680666	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:30680666C>A	uc003nrg.4	-	4	1493	c.1053G>T	c.(1051-1053)aaG>aaT	p.K351N	MDC1_uc003nrf.4_Missense_Mutation_p.K5N|MDC1_uc011dmp.1_Missense_Mutation_p.K223N|MDC1_uc003nrh.1_Missense_Mutation_p.K223N|MDC1_uc003nri.2_Missense_Mutation_p.K351N	NM_014641	NP_055456	Q14676	MDC1_HUMAN	Homo sapiens mediator of DNA-damage checkpoint 1 (MDC1), mRNA.	351	Required for nuclear localization (NLS1).				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						CATGGAAGATCTTCCTCTTCT	0.542000								Other conserved DNA damage response genes						49			30		2.47511e-08	2.90104e-08	1	1	0
AQP4	361	broad.mit.edu	37	18	24436384	24436384	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:24436384C>A	uc002kwa.3	-	4	826	c.763G>T	c.(763-765)Gat>Tat	p.D255Y	AQP4_uc002kvz.3_Missense_Mutation_p.D233Y	NM_001650	NP_001641	P55087	AQP4_HUMAN	Homo sapiens aquaporin 4 (AQP4), transcript variant a, mRNA.	255					cellular response to interferon-gamma|excretion|nervous system development	cytoplasm|external side of plasma membrane|integral to plasma membrane	water channel activity	p.P254P(1)		kidney(2)|large_intestine(3)|lung(5)|skin(1)	11	all_cancers(21;0.0172)|Lung NSC(5;0.00299)|all_lung(6;0.00747)|Ovarian(20;0.124)					AATTCAACATCTGGACAGAAG	0.458000														106			26		2.79863e-10	3.37315e-10	1	1	0
ZFP161	7541	broad.mit.edu	37	18	5291622	5291622	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:5291622G>A	uc002kmq.3	-	3	747	c.585C>T	c.(583-585)ctC>ctT	p.L195L	ZFP161_uc002kmr.3_Silent_p.L195L|ZFP161_uc010dkp.3_Silent_p.L195L|ZFP161_uc021ugn.1_Silent_p.L195L	NM_001243702	NP_001230631	O43829	ZF161_HUMAN	Homo sapiens zinc finger protein 161 homolog (mouse) (ZFP161), transcript variant 3, mRNA.	195					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)	22						CCTGAACCCTGAGCGTTGTGG	0.542000														88			47		0	0	1	0	0
SLFN12L	100506736	broad.mit.edu	37	17	33806684	33806684	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:33806684G>A	uc002hjn.3	-	2	1346	c.632C>T	c.(631-633)gCa>gTa	p.A211V	SLFN12L_uc021tuy.1_Missense_Mutation_p.A182V	NM_001195790	NP_001182719	Q6IEE8	SN12L_HUMAN	Homo sapiens schlafen family member 12-like (SLFN12L), mRNA.	214						integral to membrane	ATP binding			breast(1)|endometrium(4)|kidney(5)|large_intestine(2)|lung(3)|ovary(1)	16						GGCCCTTTTTGCAGGGAATTC	0.403000														18			3		0	0	1	0	0
TIE1	7075	broad.mit.edu	37	1	43784988	43784988	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:43784988G>A	uc001ciu.3	+	17	3182	c.3005G>A	c.(3004-3006)cGg>cAg	p.R1002Q	TIE1_uc010oke.2_Missense_Mutation_p.R957Q|TIE1_uc009vwq.3_Missense_Mutation_p.R958Q|TIE1_uc010okg.2_Missense_Mutation_p.R647Q|TIE1_uc021omo.1_5'Flank	NM_005424	NP_005415	P35590	TIE1_HUMAN	Homo sapiens tyrosine kinase with immunoglobulin-like and EGF-like domains 1 (TIE1), transcript variant 1, mRNA.	1002	Protein kinase.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GGCCTTTCTCGGGGAGAGGAG	0.572000														48			35		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140779637	140779637	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140779637C>T	uc003lkf.2	+	0	1943	c.1943C>T	c.(1942-1944)cCg>cTg	p.P648L	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc011daw.2_Missense_Mutation_p.P648L|PCDHGC5_uc011dax.2_5'Flank|PCDHGC5_uc003lkh.2_5'Flank	NM_018925	NP_061748	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 5 (PCDHGB5), transcript variant 1, mRNA.	654	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)			GGTGGACAGCCGCCACTCTCC	0.682000														37			11		0	0	1	0	0
MTMR4	9110	broad.mit.edu	37	17	56581192	56581192	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:56581192G>T	uc002iwj.2	-	14	1834	c.1724C>A	c.(1723-1725)tCt>tAt	p.S575Y		NM_004687	NP_004678	Q9NYA4	MTMR4_HUMAN	Homo sapiens myotubularin related protein 4 (MTMR4), mRNA.	575						cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGTGCATGGAGATGATGCTGG	0.537000														107			60		1.07751e-37	1.43038e-37	1	1	0
PAMR1	25891	broad.mit.edu	37	11	35454022	35454022	+	Missense_Mutation	SNP	C	T	T	rs143951734	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:35454022C>T	uc001mwf.3	-	11	2139	c.2096G>A	c.(2095-2097)cGc>cAc	p.R699H	PAMR1_uc001mwg.3_Missense_Mutation_p.R682H|PAMR1_uc010rew.2_Missense_Mutation_p.R571H|PAMR1_uc010rex.2_Missense_Mutation_p.R642H	NM_015430	NP_056245	Q6UXH9	PAMR1_HUMAN	Homo sapiens peptidase domain containing associated with muscle regeneration 1 (PAMR1), transcript variant 1, mRNA.	682	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity	p.R699C(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						CAGATGCCAGCGTGGCTCAGG	0.567000														36			29		0	0	1	0	0
SLC4A11	83959	broad.mit.edu	37	20	3212183	3212183	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:3212183C>T	uc010zqe.2	-	7	995	c.870G>A	c.(868-870)aaG>aaA	p.K290K	SLC4A11_uc002wig.3_Silent_p.K263K|SLC4A11_uc002wih.3_Non-coding_Transcript|SLC4A11_uc010zqf.2_Silent_p.K247K	NM_001174090	NP_001167561	Q8NBS3	S4A11_HUMAN	Homo sapiens solute carrier family 4, sodium borate transporter, member 11 (SLC4A11), transcript variant 1, mRNA.	263					cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						CCATCGCAGTCTTAGTGCTTT	0.602000														40			16		0	0	1	0	0
PLP2	5355	broad.mit.edu	37	X	49030697	49030697	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:49030697G>A	uc004dmx.3	+	3	525	c.361G>A	c.(361-363)Gct>Act	p.A121T		NM_002668	NP_002659	Q04941	PLP2_HUMAN	Homo sapiens proteolipid protein 2 (colonic epithelium-enriched) (PLP2), mRNA.	121	MARVEL.				chemotaxis|cytokine-mediated signaling pathway	endoplasmic reticulum membrane|integral to membrane|membrane fraction|plasma membrane	chemokine binding|ion transmembrane transporter activity			endometrium(3)|large_intestine(1)|lung(6)|urinary_tract(3)	13						GGGCCTAATCGCTACGTGCCT	0.527000														20			16		0	0	1	0	0
ZNF7	7553	broad.mit.edu	37	8	146068162	146068162	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:146068162A>C	uc010mge.3	+	4	1840	c.1703A>C	c.(1702-1704)gAa>gCa	p.E568A	ZNF7_uc003zeg.4_Missense_Mutation_p.E557A|ZNF7_uc011lln.2_Missense_Mutation_p.E461A|ZNF7_uc003zeh.2_Intron|ZNF7_uc003zek.4_Missense_Mutation_p.E461A|COMMD5_uc003zel.1_Intron	NM_003416	NP_003407	P17097	ZNF7_HUMAN	Homo sapiens zinc finger protein 7 (ZNF7), mRNA.	557					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(5)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.0812)|Ovarian(118;0.0822)|Acute lymphoblastic leukemia(644;0.143)	Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;2.11e-07)		AAATGTAATGAATGTGGGAAA	0.463000														74			37		0	0	1	0	0
SIN3B	23309	broad.mit.edu	37	19	16973180	16973180	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:16973180T>G	uc002ney.2	+	8	1099	c.1076T>G	c.(1075-1077)tTt>tGt	p.F359C	SIN3B_uc002nez.2_Missense_Mutation_p.F359C|SIN3B_uc010xpi.1_5'Flank	NM_015260	NP_056075	O75182	SIN3B_HUMAN	Homo sapiens SIN3 transcription regulator homolog B (yeast) (SIN3B), mRNA.	359	Interaction with NCOR1 (By similarity).|PAH 3.				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding			endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						CCAGAACTCTTTGCACAGTTC	0.493000														45			4		0	0	1	0	0
RPTOR	57521	broad.mit.edu	37	17	78866649	78866649	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:78866649A>G	uc002jyt.1	+	18	3027	c.2222A>G	c.(2221-2223)aAc>aGc	p.N741S	RPTOR_uc010wug.1_Missense_Mutation_p.N583S	NM_020761	NP_065812	Q8N122	RPTOR_HUMAN	Homo sapiens regulatory associated protein of MTOR, complex 1 (RPTOR), transcript variant 1, mRNA.	741					TOR signaling cascade|cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of TOR signaling cascade|positive regulation of protein serine/threonine kinase activity	TORC1 complex|cytosol|lysosome	protein complex binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						TCTTTGCAGAACCTGAGTTTG	0.498000														40			37		0	0	1	0	0
G6PC3	92579	broad.mit.edu	37	17	42153059	42153059	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:42153059T>C	uc002iex.3	+	5	925	c.689T>C	c.(688-690)cTa>cCa	p.L230P	G6PC3_uc002iey.3_Missense_Mutation_p.L105P|G6PC3_uc002iez.3_Missense_Mutation_p.L105P	NM_138387	NP_612396	Q9BUM1	G6PC3_HUMAN	Homo sapiens glucose 6 phosphatase, catalytic, 3 (G6PC3), transcript variant 1, mRNA.	230					gluconeogenesis|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	glucose-6-phosphatase activity			endometrium(2)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	11		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.113)		TCCATCAGCCTAGCCTTCAAG	0.617000														107			6		0	0	1	0	0
FGFR4	2264	broad.mit.edu	37	5	176518737	176518737	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:176518737C>T	uc003mfl.3	+	5	822	c.655C>T	c.(655-657)Cgc>Tgc	p.R219C	FGFR4_uc003mfm.3_Missense_Mutation_p.R219C|FGFR4_uc011dfu.2_Missense_Mutation_p.R219C|FGFR4_uc011dfw.1_Missense_Mutation_p.R219C|FGFR4_uc003mfo.3_Missense_Mutation_p.R219C	NM_002011	NP_998812	P22455	FGFR4_HUMAN	Homo sapiens fibroblast growth factor receptor 4 (FGFR4), transcript variant 1, mRNA.	219	Ig-like C2-type 2.				insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Palifermin(DB00039)	GCCCTCGGACCGCGGCACATA	0.637000										TSP Lung(9;0.080)				31			15		0	0	1	0	0
BTAF1	9044	broad.mit.edu	37	10	93768689	93768689	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:93768689C>T	uc001khr.3	+	26	4015	c.3917C>T	c.(3916-3918)gCa>gTa	p.A1306V		NM_003972	NP_003963	O14981	BTAF1_HUMAN	Homo sapiens BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa (Mot1 homolog, S. cerevisiae) (BTAF1), mRNA.	1306	Helicase ATP-binding.				negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				TGCATTCTAGCAGGAGATCAT	0.328000														72			13		0	0	1	0	0
CADPS	8618	broad.mit.edu	37	3	62452065	62452065	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:62452065G>A	uc003dll.2	-	24	3861	c.3501C>T	c.(3499-3501)gaC>gaT	p.D1167D	CADPS_uc003dlj.1_Silent_p.D122D|CADPS_uc003dlk.1_Silent_p.D615D|CADPS_uc003dlm.2_Silent_p.D1128D|CADPS_uc003dln.2_Silent_p.D1088D|CADPS_uc021wzv.1_Silent_p.D1158D	NM_003716	NP_003707	Q9ULU8	CAPS1_HUMAN	Homo sapiens Ca++-dependent secretion activator (CADPS), transcript variant 1, mRNA.	1167					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		CAATTAGTTCGTCTATTTTTG	0.363000														16			5		0	0	1	0	0
TGFB2	7042	broad.mit.edu	37	1	218609474	218609474	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:218609474C>T	uc001hlm.3	+	4	2285	c.917C>T	c.(916-918)gCg>gTg	p.A306V	TGFB2_uc001hln.3_Missense_Mutation_p.A334V|TGFB2_uc010pue.2_Non-coding_Transcript|TGFB2_uc001hlo.3_Non-coding_Transcript	NM_003238	NP_003229	P61812	TGFB2_HUMAN	Homo sapiens transforming growth factor, beta 2 (TGFB2), transcript variant 2, mRNA.	306					SMAD protein import into nucleus|activation of protein kinase activity|angiogenesis|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cardioblast differentiation|catagen|cell cycle arrest|cell death|cell growth|cell-cell junction organization|cell-cell signaling|collagen fibril organization|dopamine biosynthetic process|embryonic digestive tract development|eye development|glial cell migration|hair follicle morphogenesis|hemopoiesis|menstrual cycle phase|negative regulation of alkaline phosphatase activity|negative regulation of cell growth|negative regulation of epithelial cell proliferation|negative regulation of immune response|negative regulation of macrophage cytokine production|neuron development|neutrophil chemotaxis|odontogenesis|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of cardioblast differentiation|positive regulation of catagen|positive regulation of cell adhesion mediated by integrin|positive regulation of cell cycle|positive regulation of cell division|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of epithelial cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of heart contraction|positive regulation of immune response|positive regulation of integrin biosynthetic process|positive regulation of neuron apoptosis|positive regulation of ossification|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein secretion|positive regulation of stress-activated MAPK cascade|regulation of transforming growth factor-beta2 production|response to hypoxia|response to progesterone stimulus|salivary gland morphogenesis|somatic stem cell division|transforming growth factor beta receptor signaling pathway	axon|extracellular matrix|extracellular space|neuronal cell body|platelet alpha granule lumen	beta-amyloid binding|cytokine activity|growth factor activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling protein serine/threonine kinase activity|type II transforming growth factor beta receptor binding			breast(1)|endometrium(1)|large_intestine(11)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(1)	31				all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776)		GCTTTGGATGCGGCCTATTGC	0.438000														37			39		0	0	1	0	0
TMCO3	55002	broad.mit.edu	37	13	114193804	114193804	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:114193804G>A	uc001vtu.4	+	9	2033	c.1672G>A	c.(1672-1674)Gtt>Att	p.V558I		NM_017905	NP_060375	Q6UWJ1	TMCO3_HUMAN	Homo sapiens transmembrane and coiled-coil domains 3 (TMCO3), mRNA.	558						integral to membrane	solute:hydrogen antiporter activity			NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1)	25	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	all cancers(43;0.0317)			CCTGGCCATCGTTTTCTTCGC	0.502000														24			10		0	0	1	0	0
FMO3	2328	broad.mit.edu	37	1	171086349	171086349	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:171086349A>G	uc001ghi.3	+	8	1477	c.1366A>G	c.(1366-1368)Aaa>Gaa	p.K456E	FMO3_uc001ghh.3_Missense_Mutation_p.K456E|FMO3_uc010pmb.2_Missense_Mutation_p.K436E|FMO3_uc010pmc.2_Missense_Mutation_p.K393E	NM_001002294	NP_008825	P31513	FMO3_HUMAN	Homo sapiens flavin containing monooxygenase 3 (FMO3), transcript variant 2, mRNA.	456					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)					CACAGATCCCAAATTGGCCAT	0.498000														52			9		0	0	1	0	0
PRKCI	5584	broad.mit.edu	37	3	169977800	169977800	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:169977800C>A	uc003fgs.2	+	2	505	c.267C>A	c.(265-267)gcC>gcA	p.A89A		NM_002740	NP_002731	P41743	KPCI_HUMAN	Homo sapiens protein kinase C, iota (PRKCI), mRNA.	89	Interaction with PARD6A.|OPR.|Regulatory domain.				anti-apoptosis|cellular membrane organization|cellular response to insulin stimulus|establishment or maintenance of epithelial cell apical/basal polarity|intracellular signal transduction|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|protein targeting to membrane|secretion|tight junction assembly|vesicle-mediated transport	cytosol|endosome|nucleus|polarisome	ATP binding|phospholipid binding|protein binding|protein kinase C activity|zinc ion binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	36	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			TAGAAGAAGCCTTTAGACTTT	0.353000														65			8		3.09899e-07	3.55757e-07	1	1	0
OTUD3	23252	broad.mit.edu	37	1	20231450	20231450	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:20231450G>A	uc001bcs.4	+	5	924	c.805G>A	c.(805-807)Gtg>Atg	p.V269M		NM_015207	NP_056022	Q5T2D3	OTUD3_HUMAN	Homo sapiens OTU domain containing 3 (OTUD3), mRNA.	269										breast(1)|kidney(2)|large_intestine(4)|lung(1)|skin(1)	9		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000276)|Lung NSC(340;0.000338)|Breast(348;0.000812)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.12e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.000408)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		AATAATTGCCGTGCTTCGGAT	0.299000														55			23		0	0	1	0	0
SLC23A2	9962	broad.mit.edu	37	20	4864408	4864408	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:4864408G>T	uc002wlg.1	-	8	1079	c.704C>A	c.(703-705)cCt>cAt	p.P235H	SLC23A2_uc010zqr.1_Intron|SLC23A2_uc002wlh.1_Missense_Mutation_p.P235H|SLC23A2_uc002wli.3_Missense_Mutation_p.P234H	NM_005116	NP_976072	Q9UGH3	S23A2_HUMAN	Homo sapiens solute carrier family 23 (nucleobase transporters), member 2 (SLC23A2), transcript variant 1, mRNA.	235					L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport	apical plasma membrane|integral to plasma membrane|membrane fraction	nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity			endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						TAGAGCCCCAGGCAGGCCGAG	0.577000														70			7		3.09899e-07	3.55757e-07	1	1	0
MKRN3	7681	broad.mit.edu	37	15	23812185	23812185	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:23812185A>C	uc001ywh.4	+	0	1732	c.1256A>C	c.(1255-1257)aAg>aCg	p.K419T	MKRN3_uc001ywi.3_Intron|MKRN3_uc010ayi.1_Intron	NM_005664	NP_005655	Q13064	MKRN3_HUMAN	Homo sapiens makorin ring finger protein 3 (MKRN3), mRNA.	419						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		TGCTTTTACAAGCATGAATAC	0.522000														62			4		0	0	1	0	0
KCNH6	81033	broad.mit.edu	37	17	61611329	61611329	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:61611329G>T	uc002jay.3	+	4	838	c.758G>T	c.(757-759)aGc>aTc	p.S253I	KCNH6_uc002jax.1_Missense_Mutation_p.S253I|KCNH6_uc010wpl.2_Missense_Mutation_p.S130I|KCNH6_uc010wpm.2_Missense_Mutation_p.S253I|KCNH6_uc002jaz.1_Missense_Mutation_p.S253I	NM_030779	NP_110406	Q9H252	KCNH6_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 6 (KCNH6), transcript variant 1, mRNA.	253					regulation of transcription, DNA-dependent|signal transduction					breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	CTGCACTACAGCCCCTTCAAG	0.662000														92			12		1.08611e-07	1.25606e-07	1	1	0
RTN4RL1	146760	broad.mit.edu	37	17	1840091	1840091	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:1840091G>A	uc002ftp.3	-	1	1044	c.1025C>T	c.(1024-1026)cCg>cTg	p.P342L		NM_178568	NP_848663	Q86UN2	R4RL1_HUMAN	Homo sapiens reticulon 4 receptor-like 1 (RTN4RL1), mRNA.	342					axon regeneration	anchored to plasma membrane	receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|prostate(2)|skin(1)	11						GGGGCCGTGCGGGTGGCCCTT	0.692000														10			12		0	0	1	0	0
GTF2IRD1	9569	broad.mit.edu	37	7	73973325	73973325	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:73973325C>A	uc003uaq.3	+	20	2680	c.2287C>A	c.(2287-2289)Ctg>Atg	p.L763M	GTF2IRD1_uc010lbq.3_Missense_Mutation_p.L780M|GTF2IRD1_uc003uap.3_Missense_Mutation_p.L748M|GTF2IRD1_uc003uar.1_Missense_Mutation_p.L748M	NM_016328	NP_057412	Q9UHL9	GT2D1_HUMAN	Homo sapiens GTF2I repeat domain containing 1 (GTF2IRD1), transcript variant 1, mRNA.	763						nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CTCCCAGAACCTGGAGAGGAT	0.577000														80			6		5.18039e-06	5.80246e-06	1	1	0
LCA5L	150082	broad.mit.edu	37	21	40800154	40800154	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:40800154A>G	uc002yxu.3	-	3	579	c.266T>C	c.(265-267)gTg>gCg	p.V89A	LCA5L_uc002yxv.3_Missense_Mutation_p.V89A|LCA5L_uc021wji.1_Intron|LCA5L_uc002yxw.2_Missense_Mutation_p.V89A|LCA5L_uc002yxy.3_Non-coding_Transcript	NM_152505	NP_689718	O95447	LCA5L_HUMAN	Homo sapiens Leber congenital amaurosis 5-like (LCA5L), mRNA.	89										breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	24		Prostate(19;1.2e-06)				TTCTTTTACCACAGGCTGCTT	0.323000														71			41		0	0	1	0	0
DDX60	55601	broad.mit.edu	37	4	169195159	169195159	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:169195159C>A	uc003irp.3	-	16	2672	c.2380G>T	c.(2380-2382)Gcc>Tcc	p.A794S		NM_017631	NP_060101	Q8IY21	DDX60_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 (DDX60), mRNA.	794	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		TAGTAGGAGGCATAGGTTTTG	0.498000														50			33		7.16026e-08	8.32096e-08	1	1	0
HIVEP2	3097	broad.mit.edu	37	6	143094683	143094683	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:143094683G>A	uc003qjd.3	-	4	1936	c.1193C>T	c.(1192-1194)tCt>tTt	p.S398F		NM_006734	NP_006725	P31629	ZEP2_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 2 (HIVEP2), mRNA.	398					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		AAAGTAACCAGAATCAGTGCT	0.433000														76			56		0	0	1	0	0
PNMA3	29944	broad.mit.edu	37	X	152226090	152226090	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:152226090C>A	uc022cho.1	+	0	678	c.678C>A	c.(676-678)tcC>tcA	p.S226S	PNMA3_uc004fhc.2_Silent_p.S226S|PNMA3_uc004fhd.3_5'Flank	NM_013364	NP_037496	Q9UL41	PNMA3_HUMAN	Homo sapiens paraneoplastic antigen MA3 (PNMA3), mRNA.	226					apoptosis	nucleolus	nucleic acid binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	16	Acute lymphoblastic leukemia(192;6.56e-05)					gcaatgcttccataactgtgg	0.592000														174			10		5.16669e-11	6.28684e-11	1	1	0
PLEKHO1	51177	broad.mit.edu	37	1	150131488	150131488	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:150131488C>T	uc001ett.3	+	5	1278	c.1000C>T	c.(1000-1002)Cga>Tga	p.R334*	PLEKHO1_uc001ets.3_Nonsense_Mutation_p.R151*|PLEKHO1_uc001etu.3_Nonsense_Mutation_p.R162*|PLEKHO1_uc021oyc.1_Nonsense_Mutation_p.R151*	NM_016274	NP_057358	Q53GL0	PKHO1_HUMAN	Homo sapiens pleckstrin homology domain containing, family O member 1 (PLEKHO1), mRNA.	334	Negative regulator of AP-1 activity.					cytoplasm|nucleus|plasma membrane				breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	22	Lung NSC(24;7.78e-28)|Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGATGGGAAGCGAAAGGCCAA	0.617000														57			23		0	0	1	0	0
KIAA0430	9665	broad.mit.edu	37	16	15706483	15706483	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:15706483C>A	uc002ddr.3	-	16	3612	c.3405G>T	c.(3403-3405)caG>caT	p.Q1135H	KIAA0430_uc002ddq.3_Missense_Mutation_p.Q969H|KIAA0430_uc010uzv.2_Missense_Mutation_p.Q1132H|KIAA0430_uc010uzw.2_Missense_Mutation_p.Q1135H	NM_014647	NP_055462	Q9Y4F3	LKAP_HUMAN	Homo sapiens KIAA0430 (KIAA0430), transcript variant 1, mRNA.	1134						peroxisome	RNA binding|nucleotide binding			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						ACACTCGGCACTGCTTTGCAA	0.443000														182			8		0.00621372	0.00645399	1	1	0
TLR2	7097	broad.mit.edu	37	4	154625598	154625598	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:154625598G>A	uc003inq.3	+	2	1758	c.1539G>A	c.(1537-1539)acG>acA	p.T513T	TLR2_uc003inr.3_Silent_p.T513T|TLR2_uc003ins.3_Silent_p.T513T|TLR2_uc021xtl.1_Silent_p.T513T	NM_003264	NP_003255	O60603	TLR2_HUMAN	Homo sapiens toll-like receptor 2 (TLR2), mRNA.	513					I-kappaB phosphorylation|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|induction of apoptosis|inflammatory response|innate immune response|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of Wnt receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	Toll-like receptor 1-Toll-like receptor 2 protein complex|cytoplasm|integral to plasma membrane	Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)				CAATAACTACGTTTTCTAAGG	0.393000														43			30		0	0	1	0	0
SOCS6	9306	broad.mit.edu	37	18	67992736	67992736	+	Nonsense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:67992736G>T	uc002lkr.1	+	1	1148	c.832G>T	c.(832-834)Gag>Tag	p.E278*	SOCS6_uc010dqq.2_Nonsense_Mutation_p.E278*|SOCS6_uc021ulj.1_Nonsense_Mutation_p.E278*	NM_004232	NP_004223	O14544	SOCS6_HUMAN	Homo sapiens suppressor of cytokine signaling 6 (SOCS6), mRNA.	278					JAK-STAT cascade|defense response|negative regulation of signal transduction|regulation of growth	cytoplasm				NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	22		Esophageal squamous(42;0.129)|Colorectal(73;0.152)				TGTCGCCCCAGAGATCTTCGT	0.582000														93			7		0.0293803	0.0299714	1	1	0
MYCBP2	23077	broad.mit.edu	37	13	77755901	77755901	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:77755901C>T	uc021rks.1	-	32	5143	c.4876G>A	c.(4876-4878)Gag>Aag	p.E1626K	MYCBP2_uc010aev.3_Missense_Mutation_p.E992K	NM_015057	NP_055872	O75592	MYCB2_HUMAN	Homo sapiens MYC binding protein 2 (MYCBP2), mRNA.	1588					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		GAGTCGTTCTCTGTACTAACT	0.423000														58			46		0	0	1	0	0
BMP1	649	broad.mit.edu	37	8	22052380	22052380	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:22052380C>T	uc003xbg.3	+	11	1853	c.1587C>T	c.(1585-1587)ttC>ttT	p.F529F	BMP1_uc003xbf.3_Silent_p.F278F|BMP1_uc003xbb.3_Silent_p.F529F|BMP1_uc003xbc.3_Silent_p.F278F|BMP1_uc003xbd.3_Non-coding_Transcript|BMP1_uc003xbe.3_Non-coding_Transcript|BMP1_uc011kzc.2_Silent_p.F278F|BMP1_uc003xbh.3_Non-coding_Transcript|BMP1_uc003xbi.3_Non-coding_Transcript	NM_006129	NP_006120	P13497	BMP1_HUMAN	Homo sapiens bone morphogenetic protein 1 (BMP1), transcript variant 3, mRNA.	529	CUB 2.				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		GGCTCAAGTTCGTCTCTGACG	0.577000														38			34		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179452805	179452805	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179452805G>A	uc021vsy.1	-	253	55850	c.55625C>T	c.(55624-55626)gCg>gTg	p.A18542V	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.A12237V|TTN_uc021vta.1_Missense_Mutation_p.A12170V|TTN_uc021vtb.1_Missense_Mutation_p.A12045V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	19469	Fibronectin type-III 34.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.V18542G(1)		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)			ATCAGGAGACGCATCTGCTAT	0.453000														33			31		0	0	1	0	0
CNKSR2	22866	broad.mit.edu	37	X	21627188	21627188	+	Splice_Site	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:21627188G>T	uc004czx.2	+	20	2626	c.2146_splice	c.e20-1	p.M716_splice	CNKSR2_uc004czw.3_Splice_Site_p.M716_splice|CNKSR2_uc011mjn.2_Splice_Site_p.M667_splice|CNKSR2_uc011mjo.2_Splice_Site_p.M686_splice|CNKSR2_uc004czy.3_Splice_Site_p.M308_splice	NM_014927	NP_055742	Q8WXI2	CNKR2_HUMAN	Homo sapiens connector enhancer of kinase suppressor of Ras 2 (CNKSR2), transcript variant 1, mRNA.	716					regulation of signal transduction	cytoplasm|membrane	protein binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						CCTTTCTACAGATGAGTTGCG	0.453000														42			6		0.00116845	0.00123466	1	1	0
FAF1	11124	broad.mit.edu	37	1	51061795	51061795	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:51061795C>T	uc001cse.1	-	8	1291	c.838G>A	c.(838-840)Gaa>Aaa	p.E280K	FAF1_uc009vyw.1_Intron|FAF1_uc010onc.1_Missense_Mutation_p.E38K	NM_007051	NP_008982	Q9UNN5	FAF1_HUMAN	Homo sapiens Fas (TNFRSF6) associated factor 1 (FAF1), mRNA.	280					apoptosis|cytoplasmic sequestering of NF-kappaB|positive regulation of apoptosis|positive regulation of protein complex assembly|proteasomal ubiquitin-dependent protein catabolic process|regulation of protein catabolic process	CD95 death-inducing signaling complex|cytosol|perinuclear region of cytoplasm	NF-kappaB binding|heat shock protein binding|protein kinase binding|protein kinase regulator activity	p.0?(1)		breast(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)		AGGCTTACTTCTTCCGACTGT	0.488000														13			16		0	0	1	0	0
FOXQ1	94234	broad.mit.edu	37	6	1313531	1313531	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:1313531C>T	uc003mtl.4	+	0	857	c.592C>T	c.(592-594)Ccc>Tcc	p.P198S		NM_033260	NP_150285	Q9C009	FOXQ1_HUMAN	Homo sapiens forkhead box Q1 (FOXQ1), mRNA.	198					DNA fragmentation involved in apoptotic nuclear change|embryo development|hair follicle morphogenesis|pattern specification process|positive regulation of caspase activity|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|caspase regulator activity|double-stranded DNA binding|estrogen receptor binding|promoter binding|sequence-specific DNA 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|ubiquitin conjugating enzyme binding			lung(1)|urinary_tract(1)	2	Ovarian(93;0.0733)	Breast(5;0.052)|all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.0954)|BRCA - Breast invasive adenocarcinoma(62;0.18)		GATGCTCAACCCCAACAGCGA	0.701000														22			15		0	0	1	0	0
ACTRT1	139741	broad.mit.edu	37	X	127185265	127185265	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:127185265G>A	uc004eum.3	-	0	1118	c.921C>T	c.(919-921)ctC>ctT	p.L307L		NM_138289	NP_612146	Q8TDG2	ACTT1_HUMAN	Homo sapiens actin-related protein T1 (ACTRT1), mRNA.	307						cytoplasm|cytoskeleton				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						CCAGCCCAGGGAGGAGAGTGG	0.493000														91			7		0	0	1	0	0
USHBP1	83878	broad.mit.edu	37	19	17370173	17370173	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:17370173C>T	uc002nfs.1	-	6	1084	c.971G>A	c.(970-972)cGc>cAc	p.R324H	USHBP1_uc002nfr.1_5'Flank|USHBP1_uc002nft.1_Non-coding_Transcript|USHBP1_uc010xpk.1_Missense_Mutation_p.R260H|USHBP1_uc010eam.1_Missense_Mutation_p.R252H	NM_031941	NP_114147	Q8N6Y0	USBP1_HUMAN	Homo sapiens Usher syndrome 1C binding protein 1 (USHBP1), mRNA.	324							PDZ domain binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						GCCTTCACAGCGGCCCTTGTA	0.562000														27			23		0	0	1	0	0
AGTPBP1	23287	broad.mit.edu	37	9	88248234	88248234	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:88248234C>T	uc011lte.2	-	12	1461	c.1394G>A	c.(1393-1395)cGt>cAt	p.R465H	AGTPBP1_uc004aod.4_Missense_Mutation_p.R79H|AGTPBP1_uc011ltc.2_Missense_Mutation_p.R351H|AGTPBP1_uc011ltd.2_Missense_Mutation_p.R453H|AGTPBP1_uc010mqc.3_Missense_Mutation_p.R413H	NM_015239	NP_056054	Q9UPW5	CBPC1_HUMAN	Homo sapiens ATP/GTP binding protein 1 (AGTPBP1), mRNA.	453					C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis	cytosol|mitochondrion|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						AATAGGACCACGTACTTTTCC	0.333000														74			32		0	0	1	0	0
NEURL	9148	broad.mit.edu	37	10	105349997	105349997	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:105349997G>A	uc001kxh.3	+	5	2003	c.1593G>A	c.(1591-1593)acG>acA	p.T531T	SH3PXD2A_uc010qqr.2_Intron|NEURL_uc021pxn.1_Silent_p.T514T	NM_004210	NP_004201	O76050	NEU1A_HUMAN	Homo sapiens neuralized homolog (Drosophila) (NEURL), mRNA.	531					nervous system development	perinuclear region of cytoplasm	zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	17				Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125)		CGGTGGACACGGTCATCTACA	0.637000														42			23		0	0	1	0	0
VWF	7450	broad.mit.edu	37	12	6180463	6180463	+	Splice_Site	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:6180463C>A	uc001qnn.1	-	10	1406	c.1156_splice	c.e10+1	p.G386_splice	VWF_uc010set.1_Splice_Site_p.G386_splice	NM_000552	NP_000543	P04275	VWF_HUMAN	Homo sapiens von Willebrand factor (VWF), mRNA.	386					blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	Weibel-Palade body|endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein N-terminus binding|protein homodimerization activity			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	GGTCGCCTACCTGGACATTCT	0.547000														35			5		0.0215528	0.0220531	1	1	0
SRCRB4D	136853	broad.mit.edu	37	7	76024571	76024571	+	Splice_Site	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:76024571G>A	uc003ufb.3	-	7	1294	c.946_splice	c.e7+1	p.A316_splice	SRCRB4D_uc003ufa.3_5'Flank|ZP3_uc003ufc.4_5'Flank	NM_080744	NP_542782	Q8WTU2	SRB4D_HUMAN	Homo sapiens scavenger receptor cysteine rich domain containing, group B (4 domains) (SRCRB4D), mRNA.	316						extracellular region|membrane	scavenger receptor activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(9)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21						GCTCTTTACCGGACGGATCTG	0.632000														51			14		0	0	1	0	0
TBC1D4	9882	broad.mit.edu	37	13	75898492	75898492	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:75898492G>T	uc001vjl.1	-	10	2426	c.2079C>A	c.(2077-2079)tcC>tcA	p.S693S	TBC1D4_uc010aer.2_Silent_p.S693S|TBC1D4_uc010aes.2_Intron	NM_014832	NP_055647	O60343	TBCD4_HUMAN	Homo sapiens TBC1 domain family, member 4 (TBC1D4), mRNA.	693	Ser-rich.					cytoplasm	Rab GTPase activator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		GAAGACTGGAGGAAGAATTAC	0.418000														64			4		0.00909568	0.00940365	1	1	0
RRP12	23223	broad.mit.edu	37	10	99132933	99132933	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:99132933C>T	uc001knf.3	-	17	2190	c.2051G>A	c.(2050-2052)cGc>cAc	p.R684H	RRP12_uc009xvl.3_5'UTR|RRP12_uc009xvm.3_Missense_Mutation_p.R402H|RRP12_uc010qou.2_Missense_Mutation_p.R623H|RRP12_uc009xvn.3_Missense_Mutation_p.R584H	NM_015179	NP_055994	Q5JTH9	RRP12_HUMAN	Homo sapiens ribosomal RNA processing 12 homolog (S. cerevisiae) (RRP12), transcript variant 1, mRNA.	684						integral to membrane|nuclear membrane|nucleolus	protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		CTTGGCAAAGCGACTCACTTC	0.592000														33			17		0	0	1	0	0
ADCY3	109	broad.mit.edu	37	2	25050827	25050827	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:25050827G>T	uc010ykm.2	-	12	2575	c.2376C>A	c.(2374-2376)ctC>ctA	p.L792L	ADCY3_uc002rfr.4_Silent_p.L379L|ADCY3_uc002rfs.4_Silent_p.L792L	NM_004036	NP_004027	O60266	ADCY3_HUMAN	Homo sapiens adenylate cyclase 3 (ADCY3), mRNA.	792					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					GCCAGGCATAGAGGTTGATGG	0.572000											OREG0014498	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		27			16		3.45872e-05	3.81293e-05	1	1	0
FUT6	2528	broad.mit.edu	37	19	5832296	5832296	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:5832296C>T	uc002mdf.1	-	3	809	c.283G>A	c.(283-285)Gac>Aac	p.D95N	FUT6_uc021unl.1_Missense_Mutation_p.D95N|FUT6_uc002mdg.1_Missense_Mutation_p.D95N|FUT6_uc002mdh.1_Missense_Mutation_p.D95N|FUT6_uc021unm.1_Missense_Mutation_p.D95N	NM_001040701	NP_001035791	P51993	FUT6_HUMAN	Homo sapiens fucosyltransferase 6 (alpha (1,3) fucosyltransferase) (FUT6), transcript variant 2, mRNA.	95					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)	6						ACCTTGCGGTCGGCAGTGATG	0.632000														41			27		0	0	1	0	0
HMGCR	3156	broad.mit.edu	37	5	74650486	74650486	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:74650486C>T	uc011cst.2	+	11	1839	c.1587C>T	c.(1585-1587)ctC>ctT	p.L529L	HMGCR_uc003kdp.3_Silent_p.L509L|HMGCR_uc003kdq.3_Silent_p.L509L	NM_000859	NP_000850	P04035	HMDH_HUMAN	Homo sapiens 3-hydroxy-3-methylglutaryl-CoA reductase (HMGCR), transcript variant 1, mRNA.	509	Catalytic.				cholesterol biosynthetic process|coenzyme A metabolic process|germ cell migration|gonad development|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal membrane	NADP binding|hydroxymethylglutaryl-CoA reductase (NADPH) activity			breast(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	20		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;2.24e-54)	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Cerivastatin(DB00439)|Fluvastatin(DB01095)|Lovastatin(DB00227)|NADH(DB00157)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)	CTTCTTCTCTCCAGTACCTAC	0.378000														32			27		0	0	1	0	0
SOX4	6659	broad.mit.edu	37	6	21595157	21595157	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:21595157G>T	uc003ndi.3	+	0	1186	c.392G>T	c.(391-393)aGg>aTg	p.R131M		NM_003107	NP_003098	Q06945	SOX4_HUMAN	Homo sapiens SRY (sex determining region Y)-box 4 (SOX4), mRNA.	131					DNA damage response, detection of DNA damage|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|T cell differentiation|canonical Wnt receptor signaling pathway|cardiac ventricle formation|cellular response to glucose stimulus|glial cell development|glial cell proliferation|limb bud formation|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein export from nucleus|negative regulation of protein ubiquitination|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|positive regulation of N-terminal peptidyl-lysine acetylation|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|positive regulation of insulin secretion|positive regulation of translation|pro-B cell differentiation|protein stabilization|skeletal system development|spinal cord motor neuron differentiation|sympathetic nervous system development	mitochondrion|nucleus	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity|core promoter sequence-specific DNA binding|protein binding			kidney(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	6	Ovarian(93;0.163)		all cancers(50;0.0751)|Epithelial(50;0.155)			TACCGGCCCAGGAAGAAGGTG	0.637000														11			4		0.000602214	0.000641151	1	1	0
ATP5B	506	broad.mit.edu	37	12	57039093	57039093	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57039093C>T	uc001slr.3	-	1	277	c.172G>A	c.(172-174)Gcc>Acc	p.A58T	SNORD59B_uc001sls.1_5'Flank|SNORD59A_uc001slt.1_5'Flank	NM_001686	NP_001677	P06576	ATPB_HUMAN	Homo sapiens ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide (ATP5B), nuclear gene encoding mitochondrial protein, mRNA.	58					ATP hydrolysis coupled proton transport|angiogenesis|regulation of intracellular pH|respiratory electron transport chain	cell surface|mitochondrial nucleoid|mitochondrial proton-transporting ATP synthase, catalytic core|plasma membrane	ATP binding|MHC class I protein binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|hydrogen-exporting ATPase activity, phosphorylative mechanism|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CCGGTGGCGGCGCCTGCTTTT	0.562000														64			26		0	0	1	0	0
FCAMR	83953	broad.mit.edu	37	1	207131913	207131913	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:207131913G>T	uc001hfa.4	-	7	2182	c.1682C>A	c.(1681-1683)tCt>tAt	p.S561Y	FCAMR_uc001hfb.3_3'UTR|FCAMR_uc009xca.2_3'UTR	NM_001170631	NP_001164102	Q8WWV6	FCAMR_HUMAN	Homo sapiens Fc receptor, IgA, IgM, high affinity (FCAMR), transcript variant 3, mRNA.	516						integral to membrane|plasma membrane	receptor activity			endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(1)	11						AGCAGGAAGAGAGTCATCCTG	0.527000														98			8		0.00448238	0.0046769	1	1	0
MPDZ	8777	broad.mit.edu	37	9	13107046	13107046	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:13107046C>A	uc010mhy.3	-	44	6101	c.6044G>T	c.(6043-6045)aGt>aTt	p.S2015I	MPDZ_uc003zkx.4_Missense_Mutation_p.S239I|MPDZ_uc003zky.4_Missense_Mutation_p.S578I|MPDZ_uc010mib.3_Missense_Mutation_p.S749I|MPDZ_uc010mhx.3_Missense_Mutation_p.S866I|MPDZ_uc011lmm.2_Missense_Mutation_p.S903I|MPDZ_uc003zkz.4_Missense_Mutation_p.S737I|MPDZ_uc010mhz.3_Missense_Mutation_p.S2011I|MPDZ_uc011lmn.2_Missense_Mutation_p.S1982I|MPDZ_uc003zlb.4_Missense_Mutation_p.S2015I	NM_003829	NP_003820	O75970	MPDZ_HUMAN	Homo sapiens multiple PDZ domain protein (MPDZ), mRNA.	2044	PDZ 13.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		TCCTTCTAGACTCTGCCCATT	0.448000														111			49		3.50607e-19	4.50874e-19	1	1	0
CDKN2B	1030	broad.mit.edu	37	9	22006082	22006082	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:22006082G>A	uc003zpo.3	-	1	681	c.321C>T	c.(319-321)gaC>gaT	p.D107D	MTAP_uc003zpi.1_Intron|MTAP_uc010miw.1_Intron|CDKN2B-AS1_uc022bed.1_Intron|CDKN2B-AS1_uc022bee.1_Intron|CDKN2B-AS1_uc010mix.1_Intron|CDKN2B-AS1_uc022bef.1_Intron|MTAP_uc003zpm.3_Intron|MTAP_uc022bek.1_Intron|CDKN2B-AS1_uc022beg.1_Intron|CDKN2B-AS1_uc022beh.1_Intron|CDKN2B-AS1_uc022bei.1_Intron|CDKN2B-AS1_uc022bej.1_Intron|CDKN2B-AS1_uc022bel.1_Intron|CDKN2B-AS1_uc022bem.1_Intron|CDKN2B-AS1_uc022ben.1_Intron|CDKN2B_uc003zpn.3_3'UTR	NM_004936	NP_004927	P42772	CDN2B_HUMAN	Homo sapiens cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4) (CDKN2B), transcript variant 1, mRNA.	107					G1 phase of mitotic cell cycle|G2/M transition of mitotic cell cycle|cell cycle arrest|cellular response to nutrient|megakaryocyte differentiation|mitotic cell cycle G1/S transition checkpoint|negative regulation of epithelial cell proliferation|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of cyclin-dependent protein kinase activity	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|protein kinase binding	p.0(1)|p.0?(1)		lung(2)	2		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;1.31e-280)|Lung NSC(2;2.28e-131)|all_lung(2;2.11e-123)|Glioma(2;5.66e-57)|all_neural(2;3.05e-50)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;8.01e-33)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00369)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;3.29e-71)|Epithelial(2;9.08e-60)|LUSC - Lung squamous cell carcinoma(2;5.8e-46)|LUAD - Lung adenocarcinoma(2;1.43e-25)|BRCA - Breast invasive adenocarcinoma(2;5.37e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;6.92e-07)|KIRC - Kidney renal clear cell carcinoma(2;8.63e-07)|OV - Ovarian serous cystadenocarcinoma(39;0.014)|COAD - Colon adenocarcinoma(8;0.143)		CATCGCGCACGTCCAGCCGCG	0.731000														9			11		0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79443936	79443936	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:79443936C>T	uc003hlb.2	+	68	11222	c.10782C>T	c.(10780-10782)ctC>ctT	p.L3594L		NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	3589					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						CACATCAACTCTGGAGAGCCA	0.433000														14			4		0	0	1	0	0
PRKDC	5591	broad.mit.edu	37	8	48826496	48826496	+	Nonsense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:48826496C>A	uc003xqi.3	-	23	2803	c.2746G>T	c.(2746-2748)Gaa>Taa	p.E916*	PRKDC_uc003xqj.3_Nonsense_Mutation_p.E916*	NM_006904	NP_008835	P78527	PRKDC_HUMAN	Homo sapiens protein kinase, DNA-activated, catalytic polypeptide (PRKDC), transcript variant 1, mRNA.	916					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	p.V909_L917delVFLPRVTEL(2)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				AGCGCTAATTCTGTGACTCGA	0.423000								Non-homologous end-joining						102			12		0.0135373	0.0139797	1	1	0
PCNXL3	399909	broad.mit.edu	37	11	65396306	65396306	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:65396306C>T	uc001oey.2	+	23	3828	c.3828C>T	c.(3826-3828)ttC>ttT	p.F1276F	PCNXL3_uc001oez.2_Silent_p.F163F	NM_032223	NP_115599	Q9H6A9	PCX3_HUMAN	Homo sapiens pecanex-like 3 (Drosophila) (PCNXL3), mRNA.	1276						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						CCATGCTGTTCGTCCAGGCCC	0.667000														14			5		0	0	1	0	0
KIF17	57576	broad.mit.edu	37	1	21016709	21016709	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:21016709C>T	uc001bdr.4	-	6	1471	c.1353G>A	c.(1351-1353)acG>acA	p.T451T	KIF17_uc009vpx.3_Missense_Mutation_p.R7H|KIF17_uc001bds.4_Silent_p.T451T	NM_020816	NP_065867	Q9P2E2	KIF17_HUMAN	Homo sapiens kinesin family member 17 (KIF17), transcript variant 1, mRNA.	451					microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding	p.T451T(2)		NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		TCTCCTCCAGCGTGGACAGCC	0.627000														58			6		0	0	1	0	0
SPAG17	200162	broad.mit.edu	37	1	118558601	118558601	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:118558601G>T	uc001ehk.2	-	28	4342	c.4274C>A	c.(4273-4275)cCt>cAt	p.P1425H		NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	Homo sapiens sperm associated antigen 17 (SPAG17), mRNA.	1425						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TCCATTGACAGGATCTGTGGC	0.393000														33			14		2.31682e-05	2.55671e-05	1	1	0
ARHGAP9	64333	broad.mit.edu	37	12	57872425	57872425	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57872425G>A	uc001sod.3	-	5	838	c.645C>T	c.(643-645)agC>agT	p.S215S	ARHGAP9_uc001snz.3_5'Flank|ARHGAP9_uc001soa.3_5'Flank|ARHGAP9_uc001sob.3_Silent_p.S144S|ARHGAP9_uc001soc.3_Silent_p.S144S|ARHGAP9_uc001soe.1_Silent_p.S223S|ARHGAP9_uc010sro.1_Silent_p.S144S	NM_032496	NP_115885	Q9BRR9	RHG09_HUMAN	Homo sapiens Rho GTPase activating protein 9 (ARHGAP9), transcript variant 1, mRNA.	144	WW.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			GATTGTCAGTGCTGACGCTCC	0.592000														105			9		0	0	1	0	0
ARID1B	57492	broad.mit.edu	37	6	157502125	157502125	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:157502125C>T	uc003qqp.3	+	10	3119	c.3119C>T	c.(3118-3120)aCt>aTt	p.T1040I	ARID1B_uc003qqo.3_Missense_Mutation_p.T1053I|ARID1B_uc003qqn.3_Missense_Mutation_p.T1093I	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN	Homo sapiens AT rich interactive domain 1B (SWI1-like) (ARID1B), transcript variant 1, mRNA.	1040					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		TCCACCACTACTGGGGAGAAG	0.547000														17			7		0	0	1	0	0
FAM47A	158724	broad.mit.edu	37	X	34149819	34149819	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:34149819C>T	uc004ddg.3	-	0	629	c.577G>A	c.(577-579)Gag>Aag	p.E193K		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	Homo sapiens family with sequence similarity 47, member A (FAM47A), mRNA.	193	Pro-rich.							p.P192T(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						ACCGGAGTCTCGGGAGGCTTC	0.612000														41			8		0	0	1	0	0
HEATR6	63897	broad.mit.edu	37	17	58133519	58133519	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:58133519C>A	uc002iyk.1	-	12	2176	c.2159G>T	c.(2158-2160)tGc>tTc	p.C720F	HEATR6_uc010ddk.1_Missense_Mutation_p.C259F|HEATR6_uc010wos.1_Intron	NM_022070	NP_071353	Q6AI08	HEAT6_HUMAN	Homo sapiens HEAT repeat containing 6 (HEATR6), mRNA.	720							binding			NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			TTCCCCCATGCACTTGCAAAT	0.428000														84			43		7.77092e-38	1.03166e-37	1	1	0
USH2A	7399	broad.mit.edu	37	1	216419934	216419934	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:216419934A>G	uc001hku.1	-	12	3189	c.2802T>C	c.(2800-2802)tgT>tgC	p.C934C	USH2A_uc001hkv.3_Silent_p.C934C	NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	934	Laminin EGF-like 8.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TACCTGGTTGACACTGATTAC	0.433000										HNSCC(13;0.011)				40			38		0	0	1	0	0
HIST1H3I	8354	broad.mit.edu	37	6	27839709	27839709	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:27839709G>A	uc003njy.3	-	0	391	c.385C>T	c.(385-387)Cgc>Tgc	p.R129C		NM_003533	NP_066298	P68431	H31_HUMAN	Homo sapiens histone cluster 1, H3i (HIST1H3I), mRNA.	129					S phase|blood coagulation|nucleosome assembly|regulation of gene silencing	nucleoplasm|nucleosome	DNA binding|protein binding	p.A128A(1)		endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						CGGATGCGGCGCGCAAGCTGG	0.532000														141			97		0	0	1	0	0
HNRPDL	9987	broad.mit.edu	37	4	83347637	83347637	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:83347637G>A	uc003hmr.3	-	5	1706	c.1171C>T	c.(1171-1173)Cag>Tag	p.Q391*	HNRPDL_uc003hmq.3_Non-coding_Transcript|HNRPDL_uc003hmt.3_Intron	NM_031372	NP_112740	O14979	HNRDL_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein D-like (HNRPDL), transcript variant 2, mRNA.	391	Gly-rich.|Necessary for interaction with TNPO1.|Tyr-rich.				RNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|heterogeneous nuclear ribonucleoprotein complex	double-stranded DNA binding|nucleotide binding|poly(A) RNA binding|protein binding|single-stranded DNA binding			breast(2)|endometrium(2)|kidney(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Hepatocellular(203;0.114)				GCATATCCCTGTCCATATCCA	0.333000														64			27		0	0	1	0	0
ZNF611	81856	broad.mit.edu	37	19	53219140	53219140	+	Missense_Mutation	SNP	C	T	T	rs146379839	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:53219140C>T	uc002pzz.3	-	4	325	c.8G>A	c.(7-9)cGt>cAt	p.R3H	ZNF611_uc010eqc.3_5'UTR|ZNF611_uc010ydo.2_5'UTR|ZNF611_uc010ydp.2_Missense_Mutation_p.R3H|ZNF611_uc010ydq.2_Missense_Mutation_p.R3H|ZNF611_uc010ydr.2_5'UTR|ZNF611_uc002qaa.4_5'UTR	NM_030972	NP_001154973	Q8N823	ZN611_HUMAN	Homo sapiens zinc finger protein 611 (ZNF611), transcript variant 1, mRNA.	3					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)		TGCTTCCTCACGTAACATGAG	0.428000														200			10		0	0	1	0	0
SPAG5	10615	broad.mit.edu	37	17	26919576	26919576	+	Missense_Mutation	SNP	C	T	T	rs141766452	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:26919576C>T	uc002hbq.3	-	2	778	c.686G>A	c.(685-687)cGt>cAt	p.R229H	SPAG5_uc010waq.1_Intron	NM_006461	NP_006452	Q96R06	SPAG5_HUMAN	Homo sapiens sperm associated antigen 5 (SPAG5), mRNA.	229					cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytoplasm|spindle pole	protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					TAAGTCCTCACGCACAGCCTC	0.493000														57			28		0	0	1	0	0
ECM2	1842	broad.mit.edu	37	9	95277059	95277059	+	Missense_Mutation	SNP	C	T	T	rs143789386	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:95277059C>T	uc011lty.2	-	3	1095	c.908G>A	c.(907-909)cGa>cAa	p.R303Q	CENPP_uc004arz.3_Intron|CENPP_uc010mqx.3_Intron|ECM2_uc004asf.4_Missense_Mutation_p.R281Q|ECM2_uc004asg.3_Missense_Mutation_p.R281Q	NM_001393	NP_001384	O94769	ECM2_HUMAN	Homo sapiens extracellular matrix protein 2, female organ and adipocyte specific (ECM2), transcript variant 1, mRNA.	303					cell-matrix adhesion		integrin binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						AAGCGGGGATCGAGAGGGCAT	0.612000														29			16		0	0	1	0	0
ETS1	2113	broad.mit.edu	37	11	128350152	128350152	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:128350152G>A	uc010sbs.1	-	5	1241	c.925C>T	c.(925-927)Cgg>Tgg	p.R309W	ETS1_uc001qej.2_Missense_Mutation_p.R353W|ETS1_uc009zch.2_Missense_Mutation_p.R93W|ETS1_uc009zcg.2_Intron	NM_005238	NP_005229	P14921	ETS1_HUMAN	Homo sapiens v-ets erythroblastosis virus E26 oncogene homolog 1 (avian) (ETS1), transcript variant 2, mRNA.	309					PML body organization|cell motility|immune response|induction of apoptosis|negative regulation of cell cycle|negative regulation of cell proliferation|positive regulation of cellular component movement|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|response to antibiotic|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|pleura(1)|prostate(1)|upper_aerodigestive_tract(3)	35	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)		GCACGGTCCCGCACATAGTCC	0.597000														31			14		0	0	1	0	0
RIMS2	9699	broad.mit.edu	37	8	105257185	105257185	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:105257185A>G	uc003yls.3	+	23	3671	c.3430A>G	c.(3430-3432)Aca>Gca	p.T1144A	RIMS2_uc003ylp.3_Missense_Mutation_p.T1126A|RIMS2_uc003ylw.2_Missense_Mutation_p.T1133A|RIMS2_uc003ylq.3_Missense_Mutation_p.T940A|RIMS2_uc003ylr.3_Missense_Mutation_p.T965A	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA.	1188					intracellular protein transport	cell junction|presynaptic membrane	Rab GTPase binding|metal ion binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CCAAAGAAGTACAGAAACAGG	0.438000										HNSCC(12;0.0054)				66			50		0	0	1	0	0
IRF6	3664	broad.mit.edu	37	1	209963041	209963041	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:209963041G>A	uc001hhq.2	-	7	1454	c.1150C>T	c.(1150-1152)Cca>Tca	p.P384S	IRF6_uc010psm.2_Missense_Mutation_p.P289S	NM_006147	NP_001193625	O14896	IRF6_HUMAN	Homo sapiens interferon regulatory factor 6 (IRF6), transcript variant 1, mRNA.	384					cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		CTTTCCAATGGTTTCCCATCT	0.463000										HNSCC(57;0.16)				38			21		0	0	1	0	0
RAB11FIP1	80223	broad.mit.edu	37	8	37732659	37732659	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:37732659C>A	uc003xkm.2	-	2	1052	c.996G>T	c.(994-996)aaG>aaT	p.K332N	RAB11FIP1_uc003xkn.2_Missense_Mutation_p.K332N|RAB11FIP1_uc003xkl.2_5'Flank|RAB11FIP1_uc003xko.1_5'Flank|RAB11FIP1_uc003xkp.1_Missense_Mutation_p.K180N	NM_001002814	NP_001002814	Q6WKZ4	RFIP1_HUMAN	Homo sapiens RAB11 family interacting protein 1 (class I) (RAB11FIP1), transcript variant 3, mRNA.	332				EAK -> QPT (in Ref. 1; AAM09571).	protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			TGATCTCACCCTTGGCTTCTG	0.517000														375			30		9.04072e-19	1.16106e-18	1	1	0
ANXA6	309	broad.mit.edu	37	5	150512099	150512099	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:150512099G>A	uc003ltl.2	-	9	902	c.674C>T	c.(673-675)cCg>cTg	p.P225L	ANXA6_uc011dcp.2_Missense_Mutation_p.P193L|ANXA6_uc003lto.2_Intron	NM_001155	NP_001180473	P08133	ANXA6_HUMAN	Homo sapiens annexin A6 (ANXA6), transcript variant 1, mRNA.	225						melanosome	calcium ion binding|calcium-dependent phospholipid binding|protein binding			endometrium(2)|kidney(1)|lung(9)	12		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGCTTCAATCGGCTTCCCTGT	0.542000														13			5		0	0	1	0	0
ANO4	121601	broad.mit.edu	37	12	101333158	101333158	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:101333158G>A	uc010svm.1	+	3	798	c.226G>A	c.(226-228)Gat>Aat	p.D76N	ANO4_uc010svl.1_Non-coding_Transcript|ANO4_uc001thw.2_Missense_Mutation_p.D41N|ANO4_uc001thx.2_Missense_Mutation_p.D76N	NM_178826	NP_849148	Q32M45	ANO4_HUMAN	Homo sapiens anoctamin 4 (ANO4), mRNA.	76						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						CAAAGATGACGATTCTCTTCT	0.403000										HNSCC(74;0.22)				60			27		0	0	1	0	0
ST6GAL1	6480	broad.mit.edu	37	3	186760527	186760527	+	Nonsense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:186760527C>A	uc003frb.3	+	3	669	c.36C>A	c.(34-36)tgC>tgA	p.C12*	ST6GAL1_uc003frc.3_Intron|ST6GAL1_uc003frd.3_Nonsense_Mutation_p.C12*	NM_173216	NP_775323	P15907	SIAT1_HUMAN	Homo sapiens ST6 beta-galactosamide alpha-2,6-sialyltranferase 1 (ST6GAL1), transcript variant 1, mRNA.	12					humoral immune response|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|extracellular region|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	all_cancers(143;2.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;8.53e-19)	GBM - Glioblastoma multiforme(93;0.0939)		AGTTCAGCTGCTGCGTCCTGG	0.403000														210			32		4.4194e-11	5.38326e-11	1	1	0
NBPF7	343505	broad.mit.edu	37	1	120379951	120379951	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:120379951C>T	uc010oxk.2	-	5	1491	c.870G>A	c.(868-870)ggG>ggA	p.G290G		NM_001047980	NP_001041445	P0C2Y1	NBPF7_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 7 (NBPF7), mRNA.	290	NBPF 2.					cytoplasm				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|skin(2)	24	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;3.66e-05)|Lung NSC(69;0.000192)|all_epithelial(167;0.0347)		Lung(183;0.0103)|LUSC - Lung squamous cell carcinoma(189;0.0544)		CTGGCGCTTTCCCTTCCTCTT	0.438000														32			21		0	0	1	0	0
TNMD	64102	broad.mit.edu	37	X	99848938	99848938	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:99848938A>G	uc004efy.4	+	2	453	c.227A>G	c.(226-228)aAg>aGg	p.K76R	TNMD_uc004efz.2_Missense_Mutation_p.K76R	NM_022144	NP_071427	Q9H2S6	TNMD_HUMAN	Homo sapiens tenomodulin (TNMD), mRNA.	76						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(7)|skin(1)	16						GAGAAGAAGAAGATTTACATG	0.408000														65			28		0	0	1	0	0
ZNF259	8882	broad.mit.edu	37	11	116652883	116652883	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:116652883C>T	uc001ppp.3	-	11	1203	c.1170G>A	c.(1168-1170)aaG>aaA	p.K390K		NM_003904	NP_003895	O75312	ZPR1_HUMAN	Homo sapiens zinc finger protein 259 (ZNF259), mRNA.	390					cell proliferation|signal transduction	cytoplasm|nucleolus				breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	9	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.61e-06)|all cancers(92;0.000139)|OV - Ovarian serous cystadenocarcinoma(223;0.153)		CCTGGTCCATCTTCTGGCTAA	0.483000														23			22		0	0	1	0	0
HLA-C	3107	broad.mit.edu	37	6	31323155	31323155	+	Silent	SNP	C	T	T	rs1065502		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31323155C>T	uc003nth.2	-	3	888	c.834G>A	c.(832-834)gaG>gaA	p.E278E	HLA-C_uc003ntf.2_Intron|HLA-C_uc003ntg.1_Silent_p.E157E|HLA-C_uc003nti.1_Non-coding_Transcript|HLA-C_uc010jsn.1_Non-coding_Transcript	NM_005514	NP_005505	Q9TNN7	1C05_HUMAN	Homo sapiens major histocompatibility complex, class I, B (HLA-B), mRNA.	278	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	MHC class I protein complex|integral to membrane				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	17						TGTATCTCTGCTCTTCTCCAG	0.567000														45			7		0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100678180	100678180	+	Silent	SNP	G	A	A	rs138884548		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100678180G>A	uc003uxp.1	+	2	3536	c.3483G>A	c.(3481-3483)ccG>ccA	p.P1161P	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	1161	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)					GAACCACTCCGTTAGCAAGTA	0.517000														175			239		0	0	1	0	0
PGR	5241	broad.mit.edu	37	11	100909896	100909896	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:100909896G>A	uc001pgh.2	-	7	3496	c.2753C>T	c.(2752-2754)cCc>cTc	p.P918L	PGR_uc001pgg.2_Missense_Mutation_p.P299L|PGR_uc001pgi.2_Missense_Mutation_p.P816L|PGR_uc009yww.1_Non-coding_Transcript|PGR_uc001pgj.2_Non-coding_Transcript|PGR_uc009ywx.1_Non-coding_Transcript	NM_000926	NP_000917	P06401	PRGR_HUMAN	Homo sapiens progesterone receptor (PGR), transcript variant 2, mRNA.	918	Steroid-binding.				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)	CAATATCTTGGGTAATTGTGC	0.353000														59			21		0	0	1	0	0
ZNF585A	199704	broad.mit.edu	37	19	37644027	37644027	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:37644027C>T	uc002ofo.1	-	4	1005	c.774G>A	c.(772-774)aaG>aaA	p.K258K	ZNF585A_uc002ofm.1_Silent_p.K203K|ZNF585A_uc002ofn.1_Silent_p.K203K	NM_199126	NP_954577	Q6P3V2	Z585A_HUMAN	Homo sapiens zinc finger protein 585A (ZNF585A), transcript variant 2, mRNA.	258					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	p.L258L(1)		breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCTGATGCATCTTGAGTGTGG	0.428000														83			63		0	0	1	0	0
CHST8	64377	broad.mit.edu	37	19	34263486	34263486	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:34263486G>A	uc002nus.4	+	4	1298	c.793G>A	c.(793-795)Gtg>Atg	p.V265M	CHST8_uc002nut.4_Missense_Mutation_p.V265M|CHST8_uc002nuu.3_Missense_Mutation_p.V265M	NM_001127895	NP_071912	Q9H2A9	CHST8_HUMAN	Homo sapiens carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8 (CHST8), transcript variant 2, mRNA.	265					carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27	Esophageal squamous(110;0.162)					CGAGAGGCTGGTGTCCGCCTT	0.622000														44			6		0	0	1	0	0
VPS13B	157680	broad.mit.edu	37	8	100866174	100866174	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:100866174G>A	uc003yiv.3	+	55	10743	c.10632G>A	c.(10630-10632)ttG>ttA	p.L3544L	VPS13B_uc003yiw.3_Silent_p.L3519L	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA.	3544					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TCAAGACTTTGTTTGACACCT	0.478000														63			36		0	0	1	0	0
AGBL5	60509	broad.mit.edu	37	2	27275942	27275942	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:27275942C>T	uc002rie.3	+	1	333	c.116C>T	c.(115-117)gCg>gTg	p.A39V	AGBL5_uc002rid.3_Missense_Mutation_p.A39V|AGBL5_uc002rif.3_Non-coding_Transcript	NM_021831	NP_068603	Q8NDL9	CBPC5_HUMAN	Homo sapiens ATP/GTP binding protein-like 5 (AGBL5), transcript variant 1, mRNA.	39				GAS -> CLL (in Ref. 5; AAI31499).	protein branching point deglutamylation|proteolysis	cytosol|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGAGGTGGGGCGTCAGCCCTG	0.542000														30			26		0	0	1	0	0
CCDC33	80125	broad.mit.edu	37	15	74565152	74565152	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:74565152C>T	uc002axo.3	+	6	1073	c.679C>T	c.(679-681)Ccc>Tcc	p.P227S	CCDC33_uc002axp.3_Missense_Mutation_p.P49S	NM_025055	NP_079331	Q8N5R6	CCD33_HUMAN	Homo sapiens coiled-coil domain containing 33 (CCDC33), transcript variant 1, mRNA.	430	C2.						protein binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						TGTGGGGCTGCCCATCACCCC	0.637000														27			16		0	0	1	0	0
PIK3CA	5290	broad.mit.edu	37	3	178917576	178917576	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:178917576G>A	uc003fjk.3	+	2	608	c.451G>A	c.(451-453)Gtg>Atg	p.V151M		NM_006218	NP_006209	P42336	PK3CA_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.	151					T cell costimulation|T cell receptor signaling pathway|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		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			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)			TAAAGAAGCTGTGGATCTTAG	0.383000		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)				115			10		0	0	1	0	0
CEP350	9857	broad.mit.edu	37	1	179983260	179983260	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:179983260G>A	uc001gnt.3	+	9	2055	c.1672G>A	c.(1672-1674)Gca>Aca	p.A558T	CEP350_uc009wxl.2_Missense_Mutation_p.A557T|CEP350_uc001gnu.3_Missense_Mutation_p.A392T	NM_014810	NP_055625	Q5VT06	CE350_HUMAN	Homo sapiens centrosomal protein 350kDa (CEP350), mRNA.	558						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						GAAGTCATCAGCACCAGTACA	0.433000														6			11		0	0	1	0	0
FRY	10129	broad.mit.edu	37	13	32698752	32698752	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:32698752C>A	uc001utx.3	+	5	1065	c.569C>A	c.(568-570)cCt>cAt	p.P190H	FRY_uc010tdw.2_Non-coding_Transcript	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	Homo sapiens furry homolog (Drosophila) (FRY), mRNA.	190					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		CCACTTCATCCTGTAATAGAC	0.313000														19			7		0.0381472	0.0388409	1	1	0
ATF6	22926	broad.mit.edu	37	1	161789436	161789436	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:161789436G>T	uc001gbs.3	+	7	1040	c.923G>T	c.(922-924)aGg>aTg	p.R308M	ATF6_uc001gbq.2_Missense_Mutation_p.R308M	NM_007348	NP_031374	P18850	ATF6A_HUMAN	Homo sapiens activating transcription factor 6 (ATF6), mRNA.	308					positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|protein folding	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|nuclear envelope|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(14)|ovary(3)|skin(1)|stomach(1)	34	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.00953)			GCTGTGCTAAGGAGACAGCAA	0.343000														63			15		1.02788e-11	1.25893e-11	1	1	0
PIK3CG	5294	broad.mit.edu	37	7	106508578	106508578	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:106508578G>A	uc003vdv.4	+	1	657	c.572G>A	c.(571-573)cGc>cAc	p.R191H	PIK3CG_uc003vdu.3_Missense_Mutation_p.R191H|PIK3CG_uc003vdw.3_Missense_Mutation_p.R191H	NM_002649	NP_002640	P48736	PK3CG_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, gamma polypeptide (PIK3CG), mRNA.	191					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	p.R191S(1)		breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						GTGGCCAGCCGCGACCCCAAG	0.607000														47			16		0	0	1	0	0
GABRA5	2558	broad.mit.edu	37	15	27193350	27193350	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:27193350G>A	uc001zbd.2	+	10	1891	c.1359G>A	c.(1357-1359)ccG>ccA	p.P453P	GABRA5_uc021sgi.1_Silent_p.P453P|GABRA5_uc001zbe.1_Non-coding_Transcript	NM_000810	NP_001158509	P31644	GBRA5_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 5 (GABRA5), transcript variant 1, mRNA.	453					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	ATAGGGAGCCGGTGATAAAAG	0.468000														10			9		0	0	1	0	0
RASA3	22821	broad.mit.edu	37	13	114757976	114757976	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:114757976G>A	uc001vui.3	-	21	2361	c.2230C>T	c.(2230-2232)Ctg>Ttg	p.L744L	RASA3_uc010tkk.2_Silent_p.L712L|RASA3_uc001vuj.3_Silent_p.L361L	NM_007368	NP_031394	Q14644	RASA3_HUMAN	Homo sapiens RAS p21 protein activator 3 (RASA3), mRNA.	744					intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|calcium-release channel activity|metal ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			ATCTTCTCCAGCTTGCTCATG	0.602000														24			3		0	0	1	0	0
PRR22	163154	broad.mit.edu	37	19	5783234	5783234	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:5783234C>T	uc010xiv.1	-	2	1129	c.1024G>A	c.(1024-1026)Gtg>Atg	p.V342M	PRR22_uc002mdb.1_Missense_Mutation_p.V340M	NM_001134316	NP_001127788	Q8IZ63	PRR22_HUMAN	Homo sapiens proline rich 22 (PRR22), mRNA.	340										endometrium(2)|large_intestine(1)|prostate(1)|urinary_tract(1)	5						ATCTCAGGCACGCTGTAGTCA	0.647000														45			28		0	0	1	0	0
PACSIN3	29763	broad.mit.edu	37	11	47201080	47201080	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:47201080T>C	uc001ndw.3	-	6	1004	c.661A>G	c.(661-663)Atg>Gtg	p.M221V	ARFGAP2_uc001ndt.3_5'Flank|ARFGAP2_uc010rhb.2_5'Flank|ARFGAP2_uc001ndu.3_5'Flank|ARFGAP2_uc010rhc.2_5'Flank|ARFGAP2_uc010rhd.2_5'Flank|PACSIN3_uc001ndy.3_Missense_Mutation_p.M221V|PACSIN3_uc001ndx.3_Missense_Mutation_p.M221V	NM_001184975	NP_057307	Q9UKS6	PACN3_HUMAN	Homo sapiens protein kinase C and casein kinase substrate in neurons 3 (PACSIN3), transcript variant 1, mRNA.	221					endocytosis|negative regulation of endocytosis|positive regulation of membrane protein ectodomain proteolysis	cytoplasm|plasma membrane	cytoskeletal protein binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)	11						ATGTCCTCCATGTAGCGTGGA	0.577000											OREG0020952	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		56			5		0	0	1	0	0
KHSRP	8570	broad.mit.edu	37	19	6420462	6420462	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:6420462T>C	uc002mer.4	-	4	556	c.446A>G	c.(445-447)tAc>tGc	p.Y149C		NM_003685	NP_003676	Q92945	FUBP2_HUMAN	Homo sapiens KH-type splicing regulatory protein (KHSRP), mRNA.	149	Gly-rich.|KH 1.				RNA splicing, via transesterification reactions|mRNA processing|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|RNA binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|liver(1)|lung(6)|skin(1)|soft_tissue(1)	17						TGGGACCCTGTACTCTTCTGT	0.577000														15			8		0	0	1	0	0
ITGA10	8515	broad.mit.edu	37	1	145533899	145533899	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:145533899G>T	uc001eoa.3	+	12	1621	c.1545G>T	c.(1543-1545)caG>caT	p.Q515H	ITGA10_uc010oyv.2_Missense_Mutation_p.Q384H|ITGA10_uc009wiw.3_Missense_Mutation_p.Q372H|ITGA10_uc010oyw.2_Missense_Mutation_p.Q460H	NM_003637	NP_003628	O75578	ITA10_HUMAN	Homo sapiens integrin, alpha 10 (ITGA10), mRNA.	515					cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TGGGACCCCAGAACAAGGAAA	0.532000														34			16		3.45872e-05	3.81293e-05	1	1	0
IPO13	9670	broad.mit.edu	37	1	44422631	44422631	+	Silent	SNP	G	A	A	rs149546323		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:44422631G>A	uc001ckx.3	+	4	2049	c.1254G>A	c.(1252-1254)gaG>gaA	p.E418E		NM_014652	NP_055467	O94829	IPO13_HUMAN	Homo sapiens importin 13 (IPO13), mRNA.	418					protein import into nucleus	cytoplasm|nucleus	protein binding|protein transporter activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				ACGAGAAGGAGCAGTTCCGAA	0.512000														31			15		0	0	1	0	0
ECEL1	9427	broad.mit.edu	37	2	233349249	233349249	+	Nonsense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:233349249C>A	uc002vsv.2	-	5	1322	c.1117G>T	c.(1117-1119)Gag>Tag	p.E373*	ECEL1_uc010fya.1_Nonsense_Mutation_p.E373*|ECEL1_uc010fyb.1_Nonsense_Mutation_p.E80*	NM_004826	NP_004817	O95672	ECEL1_HUMAN	Homo sapiens endothelin converting enzyme-like 1 (ECEL1), mRNA.	373					neuropeptide signaling pathway|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)		AGCACCACCTCCTCTTCCTCT	0.592000														142			10		1	1	1	1	0
NOL10	79954	broad.mit.edu	37	2	10712240	10712240	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:10712240C>A	uc002raq.2	-	20	2149	c.2024G>T	c.(2023-2025)gGa>gTa	p.G675V	NOL10_uc010yje.1_Missense_Mutation_p.G649V|NOL10_uc010yjf.1_Missense_Mutation_p.G625V|NOL10_uc002rap.2_Missense_Mutation_p.G625V	NM_024894	NP_079170	Q9BSC4	NOL10_HUMAN	Homo sapiens nucleolar protein 10 (NOL10), mRNA.	675						nucleolus						Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.207)		CTTCAGGTGTCCGGCCGAACG	0.473000														125			89		4.98208e-43	6.62748e-43	1	1	0
ZNF618	114991	broad.mit.edu	37	9	116811240	116811240	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:116811240G>A	uc004bid.3	+	14	1757	c.1658G>A	c.(1657-1659)tGc>tAc	p.C553Y	ZNF618_uc004bic.3_Missense_Mutation_p.C460Y|ZNF618_uc011lxi.2_Missense_Mutation_p.C520Y|ZNF618_uc011lxj.2_Missense_Mutation_p.C521Y|ZNF618_uc010mvb.3_Missense_Mutation_p.C143Y	NM_133374	NP_588615	Q5T7W0	ZN618_HUMAN	Homo sapiens zinc finger protein 618 (ZNF618), mRNA.	553					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						GGTGTCACCTGCCACTCCCAG	0.592000														13			4		0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10355428	10355428	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:10355428C>T	uc002gmn.3	-	26	3679	c.3568G>A	c.(3568-3570)Gaa>Aaa	p.E1190K	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	1190					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GCCGTGGCTTCGTGCTGCAGG	0.582000														39			38		0	0	1	0	0
ZNF69	7620	broad.mit.edu	37	19	12015652	12015652	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:12015652G>A	uc002mst.4	+	3	467	c.398G>A	c.(397-399)gGt>gAt	p.G133D		NM_021915	NP_068734	Q9UC07	ZNF69_HUMAN	Homo sapiens zinc finger protein 69 (ZNF69), mRNA.	147						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|large_intestine(1)|skin(2)	4				Lung(535;0.011)		AACATCAGAGGTGACATTGGA	0.413000														192			14		0	0	1	0	0
COL12A1	1303	broad.mit.edu	37	6	75844499	75844499	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:75844499C>T	uc021zbv.1	-	30	5502	c.5467G>A	c.(5467-5469)Gta>Ata	p.V1823I	COL12A1_uc021zbw.1_Missense_Mutation_p.V659I|COL12A1_uc003phs.3_Missense_Mutation_p.V1823I|COL12A1_uc003pht.3_Missense_Mutation_p.V659I	NM_004370	NP_004361	Q99715	COCA1_HUMAN	Homo sapiens collagen, type XII, alpha 1 (COL12A1), transcript variant long, mRNA.	1823	Fibronectin type-III 13.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	p.T1822T(1)		breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						AGAGAGGATACGGTGATAGTG	0.468000														56			24		0	0	1	0	0
GABRE	2564	broad.mit.edu	37	X	151138183	151138183	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:151138183C>A	uc004ffi.3	-	2	354	c.300G>T	c.(298-300)gaG>gaT	p.E100D	GABRE_uc011myd.2_Non-coding_Transcript|GABRE_uc011mye.1_Non-coding_Transcript	NM_004961	NP_004952	P78334	GBRE_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, epsilon (GABRE), mRNA.	100					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					TGACGGAGATCTCAACAGTGA	0.522000														34			21		3.62473e-10	4.36059e-10	1	1	0
LOC401010	401010	broad.mit.edu	37	2	132200346	132200346	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:132200346G>A	uc002tst.2	-	0	2122	c.1656C>T	c.(1654-1656)ggC>ggT	p.G552G						Homo sapiens nucleolar complex associated 2 homolog (S. cerevisiae) pseudogene (LOC401010), non-coding RNA.																		TGtcctcctcgccctcctcct	0.657000														8			3		0	0	1	0	0
PNPLA3	80339	broad.mit.edu	37	22	44328962	44328962	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:44328962C>A	uc003bei.1	+	3	864	c.691C>A	c.(691-693)Ctc>Atc	p.L231I	PNPLA3_uc010gzm.1_Non-coding_Transcript	NM_025225	NP_079501	Q9NST1	PLPL3_HUMAN	Homo sapiens patatin-like phospholipase domain containing 3 (PNPLA3), mRNA.	231					triglyceride biosynthetic process|triglyceride catabolic process	integral to membrane	diolein transacylation activity|mono-olein transacylation activity|phospholipase A2 activity|triglyceride lipase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|prostate(1)|skin(1)|stomach(2)	19		Ovarian(80;0.024)|all_neural(38;0.0416)				CCCCCCGGATCTCAAGGTGAG	0.537000														44			23		4.87955e-14	6.09581e-14	1	1	0
FBN3	84467	broad.mit.edu	37	19	8190852	8190852	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:8190852G>A	uc002mjf.3	-	20	2672	c.2655C>T	c.(2653-2655)tgC>tgT	p.C885C		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	885	EGF-like 11; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CAGTGTTGACGCAACGCCCGT	0.637000														23			14		0	0	1	0	0
ASPDH	554235	broad.mit.edu	37	19	51015686	51015686	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:51015686G>A	uc010enz.3	-	4	646	c.584C>T	c.(583-585)gCg>gTg	p.A195V	JOSD2_uc002psn.1_5'Flank|JOSD2_uc002psp.1_5'Flank|JOSD2_uc002pso.1_5'Flank|JOSD2_uc002psq.1_5'Flank|ASPDH_uc002psr.4_Missense_Mutation_p.A90V	NM_001114598	NP_001108070	A6ND91	ASPD_HUMAN	Homo sapiens aspartate dehydrogenase domain containing (ASPDH), transcript variant 1, mRNA.	195					NAD biosynthetic process|NADP catabolic process		NADP binding|aspartate dehydrogenase activity			endometrium(1)|large_intestine(1)|lung(1)	3						GGCAGCCGCCGCCATGGTGTT	0.662000														11			8		0	0	1	0	0
AKR7A3	22977	broad.mit.edu	37	1	19609371	19609371	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:19609371C>T	uc001bbv.1	-	6	927	c.850G>A	c.(850-852)Gcg>Acg	p.A284T		NM_012067	NP_036199	O95154	ARK73_HUMAN	Homo sapiens aldo-keto reductase family 7, member A3 (aflatoxin aldehyde reductase) (AKR7A3), mRNA.	284					cellular aldehyde metabolic process	cytosol	aldo-keto reductase (NADP) activity|electron carrier activity			NS(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)	13		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;1.78e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00276)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		AGGATGACCGCGTCCCCGTGG	0.642000														16			17		0	0	1	0	0
HM13	81502	broad.mit.edu	37	20	30142623	30142623	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:30142623G>A	uc002wwc.3	+	7	913	c.799G>A	c.(799-801)Gtc>Atc	p.V267I	HM13_uc002wwd.3_Missense_Mutation_p.V267I|HM13_uc002wwe.3_Missense_Mutation_p.V267I|HM13_uc002wwf.3_Missense_Mutation_p.V143I	NM_178581	NP_848696	Q8TCT9	HM13_HUMAN	Homo sapiens histocompatibility (minor) 13 (HM13), transcript variant 3, mRNA.	267					membrane protein proteolysis	cell surface|endoplasmic reticulum membrane|integral to membrane|plasma membrane	aspartic-type endopeptidase activity|protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(5;3.44e-05)|Lung NSC(7;4.38e-06)|all_lung(7;7.65e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		all cancers(5;0.000479)|Colorectal(19;0.00202)|COAD - Colon adenocarcinoma(19;0.0264)			TGGAGATGTCGTCATTCCAGG	0.562000														41			16		0	0	1	0	0
LRRN4	164312	broad.mit.edu	37	20	6022760	6022760	+	Nonsense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:6022760G>T	uc002wmo.2	-	4	1355	c.1131C>A	c.(1129-1131)tgC>tgA	p.C377*		NM_152611	NP_689824	Q8WUT4	LRRN4_HUMAN	Homo sapiens leucine rich repeat neuronal 4 (LRRN4), mRNA.	377						integral to membrane				breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						AGCGGTTGAAGCAAGGTGGGT	0.677000														38			20		8.04996e-18	1.02859e-17	1	1	0
POLR1B	84172	broad.mit.edu	37	2	113326460	113326460	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:113326460C>T	uc002thw.2	+	11	2635	c.2055C>T	c.(2053-2055)aaC>aaT	p.N685N	POLR1B_uc010fkn.2_Silent_p.N629N|POLR1B_uc002thx.2_Silent_p.N546N|POLR1B_uc010fko.2_Silent_p.N502N|POLR1B_uc010fkp.2_Silent_p.N124N|POLR1B_uc002thy.2_Silent_p.N546N|POLR1B_uc010yxo.1_Silent_p.N462N	NM_019014	NP_061887	Q9H9Y6	RPA2_HUMAN	Homo sapiens polymerase (RNA) I polypeptide B, 128kDa (POLR1B), transcript variant 1, mRNA.	685					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						GTCCACGGAACATGTACCAAT	0.443000														27			5		0	0	1	0	0
GSTA5	221357	broad.mit.edu	37	6	52698993	52698993	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:52698993C>A	uc003pba.1	-	4	430	c.360G>T	c.(358-360)aaG>aaT	p.K120N		NM_153699	NP_714543	Q7RTV2	GSTA5_HUMAN	Homo sapiens glutathione S-transferase alpha 5 (GSTA5), mRNA.	120	GST C-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity	p.A119T(1)		endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Lung NSC(77;0.0912)				Glutathione(DB00143)	CCAAGGCAGTCTTGGCATCTC	0.383000														229			20		3.8784e-16	4.905e-16	1	1	0
HDAC2	3066	broad.mit.edu	37	6	114279819	114279819	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:114279819G>A	uc003pwd.2	-	2	564	c.277C>T	c.(277-279)Cag>Tag	p.Q93*	HDAC2_uc003pwc.2_Nonsense_Mutation_p.Q63*|HDAC2_uc003pwe.2_Nonsense_Mutation_p.Q63*	NM_001527	NP_001518	Q92769	HDAC2_HUMAN	Homo sapiens histone deacetylase 2 (HDAC2), transcript variant 1, mRNA.	93	Histone deacetylase.			QR -> HI (in Ref. 1; AAC50814).	blood coagulation|dendrite development|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|maintenance of chromatin silencing|negative regulation of apoptosis|negative regulation of cell cycle|negative regulation of neuron projection development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of proteolysis|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	ESC/E(Z) complex|NuRD complex|Sin3 complex|cytoplasm	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|chromatin binding|enzyme binding|histone deacetylase activity (H3-K16 specific)|sequence-specific DNA binding|transcription factor binding			biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24)		all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832)	Vorinostat(DB02546)	GTACATCTCTGCATCTGCTTA	0.318000														57			39		0	0	1	0	0
TYW1	55253	broad.mit.edu	37	7	66532272	66532272	+	Splice_Site	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:66532272T>C	uc003tvn.3	+	10	1305	c.1156_splice	c.e10-1	p.S386_splice	TYW1_uc010lai.3_Splice_Site|TYW1_uc011kef.2_5'UTR	NM_018264	NP_060734	Q9NV66	TYW1_HUMAN	Homo sapiens tRNA-yW synthesizing protein 1 homolog (S. cerevisiae) (TYW1), mRNA.	386					tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity			breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				CTTGTCATAGTCCATGCTCCG	0.418000														52			76		0	0	1	0	0
PTPRF	5792	broad.mit.edu	37	1	44056724	44056724	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:44056724C>T	uc001cjr.3	+	8	1371	c.1031C>T	c.(1030-1032)tCg>tTg	p.S344L	PTPRF_uc001cjs.3_Missense_Mutation_p.S344L|PTPRF_uc001cju.3_5'UTR|PTPRF_uc009vwt.3_5'UTR|PTPRF_uc001cjv.3_5'UTR	NM_002840	NP_002831	P10586	PTPRF_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, F (PTPRF), transcript variant 1, mRNA.	344	Fibronectin type-III 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				TCTGGGAACTCGGAGCCTGTA	0.592000														148			12		0	0	1	0	0
ICA1	3382	broad.mit.edu	37	7	8167510	8167510	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:8167510C>T	uc003sro.4	-	12	1459	c.1323G>A	c.(1321-1323)tcG>tcA	p.S441S	ICA1_uc010ktr.3_Silent_p.S470S|ICA1_uc003srm.3_Silent_p.S441S|ICA1_uc003srn.4_Silent_p.S367S|ICA1_uc003srq.3_Silent_p.S441S|ICA1_uc003srr.3_Silent_p.S440S|ICA1_uc010kts.3_Non-coding_Transcript	NM_001136020	NP_071682	Q05084	ICA69_HUMAN	Homo sapiens islet cell autoantigen 1, 69kDa (ICA1), mRNA.	441					neurotransmitter transport	Golgi membrane|cell junction|cytosol|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	23		Ovarian(82;0.0612)		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)		TACCTTGTAGCGAGGCCTGTA	0.438000														142			39		0	0	1	0	0
BZW2	28969	broad.mit.edu	37	7	16737688	16737688	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:16737688C>A	uc003stj.2	+	9	1147	c.985C>A	c.(985-987)Ctg>Atg	p.L329M	BZW2_uc011jxx.1_Missense_Mutation_p.L135M|BZW2_uc003stl.2_Missense_Mutation_p.L329M|BZW2_uc003stm.2_Missense_Mutation_p.L135M	NM_014038	NP_054757	Q9Y6E2	BZW2_HUMAN	Homo sapiens basic leucine zipper and W2 domains 2 (BZW2), transcript variant 2, mRNA.	329	W2.				RNA metabolic process|cell differentiation|nervous system development		protein binding			cervix(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	15	Lung NSC(10;0.0367)|all_lung(11;0.0837)			UCEC - Uterine corpus endometrioid carcinoma (126;0.199)		TGCTCCCCTGCTGGCCGTGTT	0.507000														85			6		8.12818e-05	8.84769e-05	1	1	0
PNLIPRP1	5407	broad.mit.edu	37	10	118359629	118359629	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:118359629C>T	uc001lco.1	+	8	903	c.885C>T	c.(883-885)ccC>ccT	p.P295P	PNLIPRP1_uc001lcp.2_Silent_p.P295P	NM_006229	NP_006220	P54315	LIPR1_HUMAN	Homo sapiens pancreatic lipase-related protein 1 (PNLIPRP1), mRNA.	295					lipid metabolic process		calcium ion binding|triglyceride lipase activity	p.P295P(2)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38				all cancers(201;0.0161)		TCCTCAATCCCGATGGGTTTG	0.488000														66			41		0	0	1	0	0
LIMA1	51474	broad.mit.edu	37	12	50589640	50589640	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:50589640G>A	uc001rwj.4	-	7	1177	c.1003C>T	c.(1003-1005)Cgt>Tgt	p.R335C	LIMA1_uc001rwg.4_Missense_Mutation_p.R33C|LIMA1_uc001rwh.4_Missense_Mutation_p.R175C|LIMA1_uc001rwi.4_Missense_Mutation_p.R175C|LIMA1_uc001rwk.4_Missense_Mutation_p.R335C|LIMA1_uc010sms.2_Non-coding_Transcript|LIMA1_uc010smr.2_Non-coding_Transcript	NM_016357	NP_001230704	Q9UHB6	LIMA1_HUMAN	Homo sapiens LIM domain and actin binding 1 (LIMA1), transcript variant 2, mRNA.	335					actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization	cytoplasm|focal adhesion|stress fiber	actin filament binding|actin monomer binding|zinc ion binding			NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						GGGGTGGAACGGACTGCCAGG	0.383000														44			5		0	0	1	0	0
HCRTR2	3062	broad.mit.edu	37	6	55113475	55113475	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:55113475G>T	uc003pcl.3	+	1	577	c.262G>T	c.(262-264)Gta>Tta	p.V88L	HCRTR2_uc010jzv.3_Non-coding_Transcript|HCRTR2_uc010jzw.1_Missense_Mutation_p.V23L	NM_001526	NP_001517	O43614	OX2R_HUMAN	Homo sapiens hypocretin (orexin) receptor 2 (HCRTR2), mRNA.	88					feeding behavior	integral to plasma membrane	neuropeptide receptor activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			CATGAGGACGGTAACCAACTA	0.448000														121			10		2.17888e-05	2.40634e-05	1	1	0
LZTR1	8216	broad.mit.edu	37	22	21328398	21328398	+	Nonsense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:21328398C>A	uc002ztj.2	+	4	620	c.402C>A	c.(400-402)tgC>tgA	p.C134*	LZTR1_uc002ztk.2_Nonsense_Mutation_p.C134*|LZTR1_uc002ztl.2_Nonsense_Mutation_p.C140*|LZTR1_uc011ahx.1_Nonsense_Mutation_p.C122*	NM_144704	NP_653305	Q8N653	LZTR1_HUMAN	Homo sapiens apoptosis-inducing factor, mitochondrion-associated, 3 (AIFM3), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	0					anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			ACGGCGCCTGCTTCAACATCA	0.662000														12			10		0.000673444	0.000715966	1	1	0
USP51	158880	broad.mit.edu	37	X	55514742	55514742	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:55514742G>T	uc022bxu.1	-	0	631	c.631C>A	c.(631-633)Ctg>Atg	p.L211M	USP51_uc004dun.2_Missense_Mutation_p.L211M	NM_201286	NP_958443	Q70EK9	UBP51_HUMAN	Homo sapiens ubiquitin specific peptidase 51 (USP51), mRNA.	211					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30						ATCAACCTCAGGTTCTTCTGC	0.502000														23			16		1.5739e-10	1.90488e-10	1	1	0
LUC7L2	51631	broad.mit.edu	37	7	139107024	139107024	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:139107024A>C	uc011kqt.2	+	10	1549	c.1315A>C	c.(1315-1317)Agt>Cgt	p.S439R	LUC7L2_uc011kqs.2_Missense_Mutation_p.S370R|LUC7L2_uc003vuy.3_Missense_Mutation_p.S372R|LUC7L2_uc003vux.3_Missense_Mutation_p.S373R|LUC7L2_uc003vva.3_Missense_Mutation_p.S320R|LOC100129148_uc022ams.1_Intron	NM_001244584	NP_001231513	Q9Y383	LC7L2_HUMAN	Homo sapiens LUC7-like 2 (S. cerevisiae) (LUC7L2), transcript variant 2, mRNA.	373							enzyme binding|metal ion binding			NS(2)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	16	Melanoma(164;0.242)					GTCCTATGAGAGTGCTAATGG	0.473000														99			29		0	0	1	0	0
IL26	55801	broad.mit.edu	37	12	68619407	68619407	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:68619407C>T	uc001stx.1	-	0	165	c.130G>A	c.(130-132)Gct>Act	p.A44T		NM_018402	NP_060872	Q9NPH9	IL26_HUMAN	Homo sapiens interleukin 26 (IL26), mRNA.	44					cell-cell signaling|negative regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of JAK-STAT cascade|positive regulation of cytokine secretion|positive regulation of protein kinase B signaling cascade|positive regulation of stress-activated MAPK cascade|positive regulation of transcription from RNA polymerase II promoter	cytosol|extracellular space|soluble fraction	cytokine activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	12			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000515)		ATATAGAGAGCGTCAACAGCT	0.433000														125			74		0	0	1	0	0
ZNF799	90576	broad.mit.edu	37	19	12503017	12503017	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:12503017A>G	uc010dyt.3	-	3	399	c.195T>C	c.(193-195)tgT>tgC	p.C65C	ZNF799_uc002mts.4_Intron	NM_001080821	NP_001074290	Q96GE5	ZN799_HUMAN	Homo sapiens zinc finger protein 799 (ZNF799), mRNA.	65	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						CTAACATACGACATCTGTAAA	0.318000														34			5		0	0	1	0	0
CHD2	1106	broad.mit.edu	37	15	93534732	93534732	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:93534732G>A	uc002bsp.3	+	26	4015	c.3440G>A	c.(3439-3441)gGt>gAt	p.G1147D	CHD2_uc002bso.1_Missense_Mutation_p.G1147D	NM_001271	NP_001262	O14647	CHD2_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 2 (CHD2), transcript variant 1, mRNA.	1147					regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding	p.F1146L(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			AAGAAGTTTGGTCTCCCTCTT	0.308000														61			23		0	0	1	0	0
PLCB4	5332	broad.mit.edu	37	20	9424888	9424888	+	Nonsense_Mutation	SNP	A	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:9424888A>T	uc021wam.1	+	27	2857	c.2842A>T	c.(2842-2844)Aag>Tag	p.K948*	PLCB4_uc010gbw.1_Nonsense_Mutation_p.K948*|PLCB4_uc010gbx.3_Nonsense_Mutation_p.K960*|PLCB4_uc021wal.1_Nonsense_Mutation_p.K948*|PLCB4_uc002wnh.3_Nonsense_Mutation_p.K795*	NM_000933	NP_000924	Q15147	PLCB4_HUMAN	Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA.	948					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						GAAACATGCAAAGGTACAGTG	0.338000														48			7		0	0	1	0	0
SERPINE3	647174	broad.mit.edu	37	13	51915233	51915233	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:51915233G>A	uc001vfh.2	+	0	66	c.6G>A	c.(4-6)ccG>ccA	p.P2P	SERPINE3_uc010tgp.2_Silent_p.P2P	NM_001101320	NP_001094790	A8MV23	SERP3_HUMAN	Homo sapiens serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 3 (SERPINE3), mRNA.	2					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)	2						CCTCCATGCCGCCTTTCCTGA	0.552000														20			25		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90021442	90021442	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:90021442C>T	uc003kju.3	+	47	10226	c.10130C>T	c.(10129-10131)gCa>gTa	p.A3377V	GPR98_uc003kjt.3_Missense_Mutation_p.A1083V|GPR98_uc003kjv.3_Missense_Mutation_p.A977V	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	3377					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TTAATCATTGCAAGTCAAAGA	0.303000														83			7		0	0	1	0	0
CNTROB	116840	broad.mit.edu	37	17	7842843	7842843	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7842843C>T	uc002gjp.3	+	8	1890	c.940C>T	c.(940-942)Caa>Taa	p.Q314*	CNTROB_uc002gjq.3_Nonsense_Mutation_p.Q314*|CNTROB_uc002gjr.3_Nonsense_Mutation_p.Q216*|CNTROB_uc010vum.1_Nonsense_Mutation_p.Q26*	NM_001037144	NP_001032221	Q8N137	CNTRB_HUMAN	Homo sapiens centrobin, centrosomal BRCA2 interacting protein (CNTROB), transcript variant 2, mRNA.	314					centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25		Prostate(122;0.173)				GGAGGAAAGGCAAGCTCTGAC	0.577000														116			41		0	0	1	0	0
GRM7	2917	broad.mit.edu	37	3	7348185	7348185	+	Splice_Site	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:7348185G>A	uc003bqm.2	+	4	1153	c.879_splice	c.e4-1	p.K293_splice	GRM7_uc011ata.1_Splice_Site|GRM7_uc011atb.1_Splice_Site|GRM7_uc010hcf.2_Splice_Site|GRM7_uc011atc.1_Splice_Site|GRM7_uc010hcg.2_Splice_Site_p.K293_splice|GRM7_uc003bql.2_Splice_Site_p.K293_splice|GRM7_uc003bqn.1_Splice_Site	NM_000844	NP_000835	Q14831	GRM7_HUMAN	Homo sapiens glutamate receptor, metabotropic 7 (GRM7), transcript variant 1, mRNA.	293					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	PDZ domain binding|adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	CTTTCCACAGGCAGATCCTTG	0.438000														48			28		0	0	1	0	0
ATP11C	286410	broad.mit.edu	37	X	138864820	138864820	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:138864820C>A	uc004faz.3	-	17	1946	c.1847G>T	c.(1846-1848)aGa>aTa	p.R616I	ATP11C_uc004fay.3_Non-coding_Transcript|ATP11C_uc004fba.3_Missense_Mutation_p.R616I	NM_173694	NP_775965	Q8NB49	AT11C_HUMAN	Homo sapiens ATPase, class VI, type 11C (ATP11C), transcript variant 1, mRNA.	616					ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					TATGAGCTGTCTGTTAATTCT	0.368000														57			34		4.4194e-11	5.38326e-11	1	1	0
SYT17	51760	broad.mit.edu	37	16	19195193	19195193	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:19195193G>A	uc002dfw.3	+	4	1006	c.675G>A	c.(673-675)gcG>gcA	p.A225A	SYT17_uc002dfx.3_Silent_p.A164A|SYT17_uc002dfy.3_Silent_p.A221A	NM_016524	NP_057608	Q9BSW7	SYT17_HUMAN	Homo sapiens synaptotagmin XVII (SYT17), mRNA.	225	C2 1.					membrane|synaptic vesicle	transporter activity			NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	17						AGGACATGGCGCACTCCAACC	0.612000														86			67		0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10466941	10466941	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:10466941A>G	uc003wtc.3	-	3	4896	c.4667T>C	c.(4666-4668)aTg>aCg	p.M1556T		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	1556					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CTCGGCCGCCATCTGGTCCAG	0.657000														21			4		0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168103716	168103716	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:168103716G>T	uc002udx.3	+	8	5903	c.5814G>T	c.(5812-5814)gaG>gaT	p.E1938D	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.E1763D|XIRP2_uc010fpq.3_Missense_Mutation_p.E1716D|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	1763					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GTTTCAAAGAGGTACATAAAG	0.388000														36			5		0.014758	0.0151755	1	1	0
MINA	84864	broad.mit.edu	37	3	97668832	97668832	+	Silent	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:97668832T>G	uc003drz.1	-	6	1422	c.916A>C	c.(916-918)Aga>Cga	p.R306R	MINA_uc003dsa.1_Silent_p.R305R|MINA_uc003dsb.1_Silent_p.R306R|MINA_uc003dsc.1_Silent_p.R305R|MINA_uc010hpa.1_Non-coding_Transcript	NM_001042533	NP_694822	Q8IUF8	MINA_HUMAN	Homo sapiens MYC induced nuclear antigen (MINA), transcript variant 1, mRNA.	306					ribosome biogenesis	cytoplasm|nucleolus				breast(2)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)	13						CTTAATCGTCTTGTAGCAACA	0.502000														64			5		0	0	1	0	0
ARMCX5-GPRASP2	100528062	broad.mit.edu	37	X	101971015	101971015	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:101971015C>A	uc022cbh.1	+	0	1218	c.1218C>A	c.(1216-1218)atC>atA	p.I406I	ARMCX5-GPRASP2_uc022cay.1_Silent_p.I406I|ARMCX5-GPRASP2_uc022cbe.1_Silent_p.I406I|ARMCX5-GPRASP2_uc004ejl.3_Silent_p.I406I|ARMCX5-GPRASP2_uc022cbf.1_Silent_p.I406I|ARMCX5-GPRASP2_uc022cbg.1_Silent_p.I406I|ARMCX5-GPRASP2_uc004ejm.3_Silent_p.I406I|ARMCX5-GPRASP2_uc004ejk.3_Silent_p.I406I	NM_001199818	NP_001186747	Q96D09	GASP2_HUMAN	Homo sapiens ARMCX5-GPRASP2 readthrough (ARMCX5-GPRASP2), mRNA.	406						cytoplasm	protein binding										CTTCAGCAATCTGTGAATCTG	0.547000														89			8		0.000673444	0.000715966	1	1	0
IFI30	10437	broad.mit.edu	37	19	18286467	18286467	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:18286467G>A	uc002nic.1	+	3	516	c.443G>A	c.(442-444)tGc>tAc	p.C148Y	PIK3R2_uc002nib.1_Non-coding_Transcript	NM_006332	NP_006323	P13284	GILT_HUMAN	Homo sapiens interferon, gamma-inducible protein 30 (IFI30), mRNA.	148				C -> WHG (in Ref. 1; AAA36105).	antigen processing and presentation of exogenous peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway	cell junction|extracellular region|lysosome	oxidoreductase activity, acting on a sulfur group of donors			endometrium(1)|kidney(2)|large_intestine(1)|stomach(1)	5						ACCATTGTCTGCATGGAAGAG	0.572000														4			4		0	0	1	0	0
SENP6	26054	broad.mit.edu	37	6	76343439	76343439	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:76343439T>C	uc003pid.4	+	3	969	c.350T>C	c.(349-351)tTg>tCg	p.L117S	SENP6_uc003pie.4_Missense_Mutation_p.L117S|SENP6_uc003pic.2_Missense_Mutation_p.L117S|SENP6_uc003pif.1_Missense_Mutation_p.L8S	NM_015571	NP_056386	Q9GZR1	SENP6_HUMAN	Homo sapiens SUMO1/sentrin specific peptidase 6 (SENP6), transcript variant 1, mRNA.	117					proteolysis	cytoplasm|nucleus	cysteine-type peptidase activity			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				AATAAGAAATTGAGGTATAGG	0.358000														32			17		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179428603	179428603	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179428603T>C	uc021vsy.1	-	274	74777	c.74552A>G	c.(74551-74553)cAg>cGg	p.Q24851R	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.Q18546R|TTN_uc021vta.1_Missense_Mutation_p.Q18479R|TTN_uc021vtb.1_Missense_Mutation_p.Q18354R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	25778	Fibronectin type-III 81.						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)			AGTTGAAACCTGGGTCCAAGA	0.413000														72			9		0	0	1	0	0
ABCB7	22	broad.mit.edu	37	X	74289279	74289279	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:74289279A>C	uc004ebz.3	-	10	1404	c.1379T>G	c.(1378-1380)aTg>aGg	p.M460R	ABCB7_uc010nlt.3_Missense_Mutation_p.M419R|ABCB7_uc004eca.3_Missense_Mutation_p.M459R|ABCB7_uc011mqn.2_Missense_Mutation_p.M433R|ABCB7_uc010nls.3_Missense_Mutation_p.M420R	NM_004299	NP_004290	O75027	ABCB7_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 7 (ABCB7), nuclear gene encoding mitochondrial protein, mRNA.	459					cellular iron ion homeostasis	integral to membrane|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|heme transporter activity			breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)	20						GGGAGATGCCATCACTTTGTC	0.428000														68			8		0	0	1	0	0
SLC2A4RG	56731	broad.mit.edu	37	20	62374245	62374245	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:62374245G>A	uc002ygq.3	+	7	1121	c.1066G>A	c.(1066-1068)Gac>Aac	p.D356N	SLC2A4RG_uc002ygr.3_Missense_Mutation_p.D251N|SLC2A4RG_uc011abj.2_Missense_Mutation_p.D251N|SLC2A4RG_uc002ygs.3_Missense_Mutation_p.D158N	NM_020062	NP_064446	Q9NR83	S2A4R_HUMAN	Homo sapiens SLC2A4 regulator (SLC2A4RG), mRNA.	356						cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|lung(2)|prostate(2)|skin(1)	7	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					GCCCCGCGGCGACGCGAAGAA	0.672000														11			4		0	0	1	0	0
OR2J3	442186	broad.mit.edu	37	6	29079850	29079850	+	Silent	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:29079850A>C	uc011dll.2	+	0	183	c.183A>C	c.(181-183)ccA>ccC	p.P61P		NM_001005216	NP_001005216	O76001	OR2J3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily J, member 3 (OR2J3), mRNA.	61					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						TGCACACACCAATGTACTTCT	0.458000														227			11		0	0	1	0	0
ST14	6768	broad.mit.edu	37	11	130060400	130060400	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:130060400C>T	uc001qfw.3	+	6	879	c.686C>T	c.(685-687)aCc>aTc	p.T229I	ST14_uc010sca.1_Missense_Mutation_p.T39I	NM_021978	NP_068813	Q9Y5Y6	ST14_HUMAN	Homo sapiens suppression of tumorigenicity 14 (colon carcinoma) (ST14), mRNA.	229	CUB 1.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	ATGCGCTTCACCACGCCCGGC	0.701000														23			7		0	0	1	0	0
COL6A1	1291	broad.mit.edu	37	21	47423035	47423035	+	Splice_Site	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:47423035C>T	uc002zhu.1	+	34	2537	c.2435_splice	c.e34-1	p.D812_splice	COL6A1_uc002zhv.1_Splice_Site_p.D143_splice	NM_001848	NP_001839	P12109	CO6A1_HUMAN	Homo sapiens collagen, type VI, alpha 1 (COL6A1), mRNA.	812	C-terminal globular domain.				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)	CTTTTACAGACAAGAAGTGTC	0.632000														24			9		0	0	1	0	0
CNOT1	23019	broad.mit.edu	37	16	58576173	58576173	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:58576173A>G	uc002env.3	-	32	4935	c.4642T>C	c.(4642-4644)Tat>Cat	p.Y1548H	CNOT1_uc002enw.3_Non-coding_Transcript|CNOT1_uc002enu.4_Missense_Mutation_p.Y1543H|CNOT1_uc010vik.2_Missense_Mutation_p.Y505H	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 1 (CNOT1), transcript variant 1, mRNA.	1548					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		TCAGCTTGATATGTTAAAACA	0.408000														100			7		0	0	1	0	0
GAK	2580	broad.mit.edu	37	4	864679	864679	+	Missense_Mutation	SNP	C	T	T	rs140022645	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:864679C>T	uc003gbm.4	-	18	2267	c.2068G>A	c.(2068-2070)Gcg>Acg	p.A690T	GAK_uc003gbn.4_Missense_Mutation_p.A611T|GAK_uc010ibk.1_Missense_Mutation_p.A584T|GAK_uc010ibj.3_Non-coding_Transcript|GAK_uc003gbl.4_Missense_Mutation_p.A554T	NM_005255	NP_005246	O14976	GAK_HUMAN	Homo sapiens cyclin G associated kinase (GAK), mRNA.	690	C2 tensin-type.				cell cycle	Golgi apparatus|focal adhesion|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		ATGTCACACGCGTCCAGGTCA	0.512000														31			19		0	0	1	0	0
WNT5B	81029	broad.mit.edu	37	12	1755144	1755144	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:1755144G>A	uc009zdq.3	+	4	1048	c.806G>A	c.(805-807)cGc>cAc	p.R269H	WNT5B_uc001qjj.3_Missense_Mutation_p.R269H|WNT5B_uc001qjk.3_Missense_Mutation_p.R269H|WNT5B_uc001qjl.3_Missense_Mutation_p.R269H	NM_032642	NP_116031	Q9H1J7	WNT5B_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 5B (WNT5B), transcript variant 1, mRNA.	269					Wnt receptor signaling pathway, calcium modulating pathway|angiogenesis|anterior/posterior pattern formation|cell migration involved in gastrulation|cellular response to retinoic acid|chondrocyte differentiation|convergent extension involved in axis elongation|convergent extension involved in gastrulation|dorsal/ventral axis specification|endocrine pancreas development|fat cell differentiation|lens fiber cell development|negative regulation of canonical Wnt receptor signaling pathway|neuron differentiation|positive regulation of cell migration|positive regulation of fat cell differentiation|respiratory system development	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled-2 binding			skin(1)	1	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00109)			GTCAACAGCCGCTTCACCCAG	0.706000														15			8		0	0	1	0	0
SLC10A5	347051	broad.mit.edu	37	8	82606128	82606128	+	Silent	SNP	C	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:82606128C>G	uc011lfs.2	-	0	1080	c.1080G>C	c.(1078-1080)ctG>ctC	p.L360L		NM_001010893	NP_001010893	Q5PT55	NTCP5_HUMAN	Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 5 (SLC10A5), mRNA.	360						integral to membrane	bile acid:sodium symporter activity	p.L360L(1)		autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)	15						CAGGAAGAGGCAGCGTACAAA	0.408000														40			23		0	0	1	0	0
PODN	127435	broad.mit.edu	37	1	53544532	53544532	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:53544532T>C	uc001cuv.3	+	7	1662	c.1494T>C	c.(1492-1494)ccT>ccC	p.P498P	PODN_uc010onr.2_Silent_p.P479P|PODN_uc010ons.2_Silent_p.P356P|PODN_uc001cuw.3_Silent_p.P479P	NM_153703	NP_714914	Q7Z5L7	PODN_HUMAN	Homo sapiens podocan (PODN), transcript variant 1, mRNA.	450					negative regulation of cell migration|negative regulation of cell proliferation	cytoplasm|extracellular space|proteinaceous extracellular matrix	collagen binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CTGGGCTGCCTCGAAATGTCC	0.672000														19			4		0	0	1	0	0
STEAP3	55240	broad.mit.edu	37	2	120005430	120005430	+	Missense_Mutation	SNP	T	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:120005430T>A	uc002tlp.3	+	3	825	c.668T>A	c.(667-669)tTc>tAc	p.F223Y	STEAP3_uc002tlq.3_Missense_Mutation_p.F233Y|STEAP3_uc002tlr.3_Missense_Mutation_p.F223Y|STEAP3_uc010fle.3_Missense_Mutation_p.F223Y	NM_018234	NP_060704	Q658P3	STEA3_HUMAN	Homo sapiens STEAP family member 3, metalloreductase (STEAP3), transcript variant 2, mRNA.	223					apoptosis|cell cycle|cellular iron ion homeostasis|protein secretion|transferrin transport|transmembrane transport	endosome membrane|integral to membrane|multivesicular body	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	17						CTGGGGCTCTTCGTCTGCTTC	0.632000														22			25		0	0	1	0	0
SLC30A5	64924	broad.mit.edu	37	5	68408995	68408995	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:68408995C>A	uc003jvh.3	+	5	783	c.476C>A	c.(475-477)gCt>gAt	p.A159D	SLC30A5_uc003jvj.3_5'Flank|SLC30A5_uc003jvk.3_5'Flank|SLC30A5_uc003jvi.3_5'UTR	NM_022902	NP_075053	Q8TAD4	ZNT5_HUMAN	Homo sapiens solute carrier family 30 (zinc transporter), member 5 (SLC30A5), transcript variant 1, mRNA.	159					cellular zinc ion homeostasis|cobalt ion transport|regulation of proton transport|response to zinc ion	Golgi apparatus|apical plasma membrane|integral to plasma membrane|membrane fraction|secretory granule membrane	zinc ion binding|zinc ion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Lung NSC(167;0.000986)|Prostate(74;0.00809)|Colorectal(97;0.0508)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)		TTCATTATTGCTGTGATCTGT	0.348000														39			11		1.08611e-07	1.25606e-07	1	1	0
CNGB1	1258	broad.mit.edu	37	16	57937774	57937774	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:57937774G>A	uc002emt.2	-	26	2811	c.2746C>T	c.(2746-2748)Cgc>Tgc	p.R916C	CNGB1_uc010cdh.2_Missense_Mutation_p.R910C	NM_001297	NP_001288	Q14028	CNGB1_HUMAN	Homo sapiens cyclic nucleotide gated channel beta 1 (CNGB1), transcript variant 1, mRNA.	916					sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity	p.R916G(2)		breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						GTCTTGACGCGGTTCTGCACG	0.602000														31			5		0	0	1	0	0
IGFN1	91156	broad.mit.edu	37	1	201196086	201196086	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:201196086G>A	uc001gwc.3	+	22	10993	c.10863G>A	c.(10861-10863)cgG>cgA	p.R3621R	IGFN1_uc001gwb.3_Non-coding_Transcript	NM_001164586	NP_001158058			Homo sapiens immunoglobulin-like and fibronectin type III domain containing 1 (IGFN1), mRNA.											autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						TGGGCCTGCGGTCCCACCTGC	0.677000														55			56		0	0	1	0	0
PI4KB	5298	broad.mit.edu	37	1	151288718	151288718	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:151288718C>A	uc001exr.3	-	2	915	c.276G>T	c.(274-276)ggG>ggT	p.G92G	PI4KB_uc001exs.3_Silent_p.G80G|PI4KB_uc001exu.3_Silent_p.G80G|PI4KB_uc010pcw.2_Intron|PI4KB_uc001ext.3_Silent_p.G80G	NM_002651	NP_001185704	Q9UBF8	PI4KB_HUMAN	Homo sapiens phosphatidylinositol 4-kinase, catalytic, beta (PI4KB), transcript variant 1, mRNA.	80					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis	Golgi apparatus|endosome|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CCACACCATCCCCATTGACCA	0.592000														68			11		1.58986e-06	1.80238e-06	1	1	0
CCNL2	81669	broad.mit.edu	37	1	1328833	1328833	+	Missense_Mutation	SNP	A	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:1328833A>T	uc001afi.2	-	4	634	c.602T>A	c.(601-603)gTt>gAt	p.V201D	CCNL2_uc010nym.1_5'Flank|CCNL2_uc001aff.1_5'Flank|CCNL2_uc001afg.1_5'UTR|CCNL2_uc001afj.2_5'UTR|CCNL2_uc021oep.1_Missense_Mutation_p.V201D	NM_030937	NP_112199	Q96S94	CCNL2_HUMAN	Homo sapiens cyclin L2 (CCNL2), transcript variant 1, mRNA.	201	Cyclin-like 2.				RNA processing|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	protein kinase binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)		AAGGTACATAACGATTATCTG	0.473000														54			27		0	0	1	0	0
PCDHB14	56122	broad.mit.edu	37	5	140604400	140604400	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140604400C>T	uc003ljb.3	+	0	1323	c.1323C>T	c.(1321-1323)ctC>ctT	p.L441L		NM_018934	NP_061757	Q9Y5E9	PCDBE_HUMAN	Homo sapiens protocadherin beta 14 (PCDHB14), mRNA.	441	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCGTGCTGCTCTCTGACGTCA	0.582000														77			43		0	0	1	0	0
UGDH	7358	broad.mit.edu	37	4	39510268	39510268	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:39510268C>T	uc003guk.2	-	6	1147	c.824G>A	c.(823-825)aGc>aAc	p.S275N	UGDH_uc011byp.2_Missense_Mutation_p.S178N|UGDH_uc003gul.2_Missense_Mutation_p.S208N	NM_003359	NP_001171630	O60701	UGDH_HUMAN	Homo sapiens UDP-glucose 6-dehydrogenase (UGDH), transcript variant 1, mRNA.	275					UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|glycosaminoglycan biosynthetic process|xenobiotic metabolic process	cytosol	NAD binding|UDP-glucose 6-dehydrogenase activity|electron carrier activity			breast(1)|central_nervous_system(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(2)	27					NADH(DB00157)	TTGGAAACAGCTCCCACCAAA	0.358000														36			22		0	0	1	0	0
OLFM3	118427	broad.mit.edu	37	1	102302451	102302451	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:102302451C>T	uc001duf.2	-	1	331	c.260G>A	c.(259-261)cGc>cAc	p.R87H	OLFM3_uc001dug.2_Missense_Mutation_p.R67H|OLFM3_uc001duh.2_Non-coding_Transcript|OLFM3_uc001dui.2_Non-coding_Transcript|OLFM3_uc001duj.2_5'UTR|OLFM3_uc001due.2_Non-coding_Transcript	NM_058170	NP_477518	Q96PB7	NOE3_HUMAN	Homo sapiens olfactomedin 3 (OLFM3), mRNA.	87						extracellular region		p.R67L(1)|p.R87L(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		CAGTAGTTGGCGAAGTTGCCT	0.458000														75			29		0	0	1	0	0
TDRD5	163589	broad.mit.edu	37	1	179562841	179562841	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:179562841G>T	uc010pnp.2	+	2	997	c.479G>T	c.(478-480)aGa>aTa	p.R160I	TDRD5_uc021pfm.1_Missense_Mutation_p.R160I|TDRD5_uc001gnf.2_Missense_Mutation_p.R160I|TDRD5_uc021pfn.1_Missense_Mutation_p.R160I	NM_001199085	NP_001186014	Q8NAT2	TDRD5_HUMAN	Homo sapiens tudor domain containing 5 (TDRD5), transcript variant 1, mRNA.	160	Lotus/OST-HTH 2.				DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						TTTGCCAAAAGATTTGGACGA	0.418000														151			11		1.08611e-07	1.25606e-07	1	1	0
CCDC109B	55013	broad.mit.edu	37	4	110608696	110608696	+	Missense_Mutation	SNP	G	A	A	rs144584495	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:110608696G>A	uc011cfs.2	+	7	1098	c.959G>A	c.(958-960)cGt>cAt	p.R320H		NM_017918	NP_060388	Q9NWR8	C109B_HUMAN	Homo sapiens coiled-coil domain containing 109B (CCDC109B), mRNA.	320						integral to membrane				breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(1)	9				OV - Ovarian serous cystadenocarcinoma(123;6.65e-06)		AAACAGGCGCGTCATTCTCTC	0.353000														48			25		0	0	1	0	0
CLK2P	1197	broad.mit.edu	37	7	23625148	23625148	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:23625148G>A	uc003swk.2	-	0	999	c.349C>T	c.(349-351)Cgc>Tgc	p.R117C						Homo sapiens CDC-like kinase 2, pseudogene (CLK2P), non-coding RNA.																		CGGTAATGGCGAGTGGAGACA	0.527000														49			4		0	0	1	0	0
SETD2	29072	broad.mit.edu	37	3	47098653	47098653	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:47098653C>T	uc003cqv.3	-	15	6908	c.6822G>A	c.(6820-6822)caG>caA	p.Q2274Q	SETD2_uc003cqs.3_Silent_p.Q2207Q|SETD2_uc003cqt.1_Intron	NM_014159	NP_054878	Q9BYW2	SETD2_HUMAN	Homo sapiens SET domain containing 2 (SETD2), mRNA.	2207	Gln-rich.|Low charge region.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		CCACCAAGGGCTGAGCATGAT	0.557000			"""N, F, S, Mis"""		clear cell renal carcinoma									27			3		0	0	1	0	0
FERMT1	55612	broad.mit.edu	37	20	6096604	6096604	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:6096604T>C	uc002wmr.3	-	2	1028	c.239A>G	c.(238-240)tAt>tGt	p.Y80C	FERMT1_uc010gbt.3_5'UTR|FERMT1_uc002wms.3_Missense_Mutation_p.Y80C	NM_017671	NP_060141	Q9BQL6	FERM1_HUMAN	Homo sapiens fermitin family member 1 (FERMT1), mRNA.	80					cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation	cytosol|focal adhesion|ruffle membrane	binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						CTGGACCCCATATTTGTCCAG	0.488000														41			33		0	0	1	0	0
C12orf51	283450	broad.mit.edu	37	12	112667652	112667652	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:112667652T>C	uc021reb.1	-	40	6363	c.5967A>G	c.(5965-5967)caA>caG	p.Q1989Q	C12orf51_uc001ttr.1_5'Flank	NM_001109662	NP_001103132			Homo sapiens chromosome 12 open reading frame 51 (C12orf51), mRNA.											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(6)|large_intestine(16)|lung(49)|ovary(4)|prostate(1)|urinary_tract(6)	100						ATTTCCCCAATTGTGGAATGT	0.468000														33			4		0	0	1	0	0
PLEKHG4	25894	broad.mit.edu	37	16	67314868	67314868	+	Nonsense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:67314868G>T	uc010cef.3	+	3	978	c.679G>T	c.(679-681)Gaa>Taa	p.E227*	PLEKHG4_uc002eso.4_Nonsense_Mutation_p.E227*|PLEKHG4_uc002esp.4_Nonsense_Mutation_p.E34*|PLEKHG4_uc002esq.4_Nonsense_Mutation_p.E227*|PLEKHG4_uc002esr.1_Nonsense_Mutation_p.E75*|PLEKHG4_uc002ess.4_Nonsense_Mutation_p.E227*|PLEKHG4_uc010ceg.3_Nonsense_Mutation_p.E146*	NM_001129728	NP_056247	Q58EX7	PKHG4_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 4 (PLEKHG4), transcript variant 3, mRNA.	227					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		CAGCAGCCAGGAACTCATCCG	0.632000														37			4		3.59834e-05	3.95114e-05	1	1	0
PURA	5813	broad.mit.edu	37	5	139494544	139494544	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:139494544C>T	uc003lfa.3	+	0	837	c.778C>T	c.(778-780)Ccc>Tcc	p.P260S		NM_005859	NP_005850	Q00577	PURA_HUMAN	Homo sapiens purine-rich element binding protein A (PURA), mRNA.	260					DNA unwinding involved in replication|DNA-dependent DNA replication initiation	DNA replication factor A complex	double-stranded telomeric DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|single-stranded DNA binding|transcription factor binding			central_nervous_system(1)|lung(2)|ovary(1)|prostate(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATCACCGTGCCCTACAAGGT	0.547000														35			12		0	0	1	0	0
TOB1	10140	broad.mit.edu	37	17	48940436	48940436	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:48940436C>T	uc002isw.3	-	1	1386	c.943G>A	c.(943-945)Ggc>Agc	p.G315S	TOB1_uc021uac.1_Missense_Mutation_p.G176S|TOB1_uc010wmz.2_Missense_Mutation_p.G315S|TOB1_uc021uad.1_Missense_Mutation_p.G315S	NM_005749	NP_005740	P50616	TOB1_HUMAN	Homo sapiens transducer of ERBB2, 1 (TOB1), transcript variant 1, mRNA.	315					negative regulation of cell proliferation		SH3/SH2 adaptor activity			breast(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			TCATTGAGGCCTCCATAGGCT	0.413000														46			27		0	0	1	0	0
FAM160B1	57700	broad.mit.edu	37	10	116603563	116603563	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:116603563G>A	uc001lcb.3	+	6	1215	c.880G>A	c.(880-882)Gcg>Acg	p.A294T	FAM160B1_uc001lcc.3_Missense_Mutation_p.A294T	NM_020940	NP_065991	Q5W0V3	F16B1_HUMAN	Homo sapiens family with sequence similarity 160, member B1 (FAM160B1), transcript variant 1, mRNA.	294										NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)	25						GCCAGAGCCTGCGGCTGCAAA	0.473000														37			6		0	0	1	0	0
TNPO3	23534	broad.mit.edu	37	7	128641137	128641137	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:128641137G>A	uc010lly.2	-	5	1251	c.848C>T	c.(847-849)gCc>gTc	p.A283V	TNPO3_uc003vol.2_Missense_Mutation_p.A283V|TNPO3_uc010llz.2_Missense_Mutation_p.A283V|TNPO3_uc003vom.2_Missense_Mutation_p.A217V	NM_012470	NP_036602	Q9Y5L0	TNPO3_HUMAN	Homo sapiens transportin 3 (TNPO3), transcript variant 1, mRNA.	283					splicing factor protein import into nucleus	cytoplasm|nucleus	protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						ACGTGCCACGGCCATATGATA	0.428000														105			44		0	0	1	0	0
GABPB1	2553	broad.mit.edu	37	15	50570866	50570866	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:50570866G>A	uc001zyb.3	-	8	1575	c.1151C>T	c.(1150-1152)gCt>gTt	p.A384V	GABPB1_uc001zya.3_Missense_Mutation_p.A372V|GABPB1_uc010ufg.2_Missense_Mutation_p.A308V	NM_005254	NP_005245	Q06547	GABP1_HUMAN	Homo sapiens GA binding protein transcription factor, beta subunit 1 (GABPB1), transcript variant beta-1, mRNA.	384					positive regulation of transcription from RNA polymerase II promoter	nucleus	protein binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			cervix(1)|endometrium(1)|large_intestine(7)|lung(5)	14						ACGAGTCATAGCTTCCAACTT	0.378000														60			41		0	0	1	0	0
PPP1R21	129285	broad.mit.edu	37	2	48701869	48701869	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:48701869C>T	uc002rwm.3	+	11	1321	c.1136C>T	c.(1135-1137)gCc>gTc	p.A379V	PPP1R21_uc002rwj.3_Missense_Mutation_p.A379V|PPP1R21_uc002rwl.3_Missense_Mutation_p.A333V|PPP1R21_uc002rwk.3_Missense_Mutation_p.A379V|PPP1R21_uc010yok.2_Missense_Mutation_p.A379V	NM_001135629	NP_001129101	Q6ZMI0	KLRAQ_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 21 (PPP1R21), transcript variant 1, mRNA.	379										endometrium(2)|kidney(4)|lung(9)	15						GCGTTAAGAGCCAGGAATCTA	0.403000														52			29		0	0	1	0	0
ABCA12	26154	broad.mit.edu	37	2	215838767	215838767	+	Splice_Site	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:215838767C>A	uc002vew.3	-	36	5689	c.5469_splice	c.e36-1	p.L1823_splice	ABCA12_uc002vev.3_Splice_Site_p.L1505_splice|ABCA12_uc010zjn.2_Splice_Site_p.L750_splice	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA.	1823					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TAAACACTGTCTGCAAGTTAA	0.368000														34			19		1.67942e-08	1.97205e-08	1	1	0
CACNA1B	774	broad.mit.edu	37	9	140865852	140865852	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:140865852G>A	uc004cog.3	+	10	1496	c.1351G>A	c.(1351-1353)Gcc>Acc	p.A451T	CACNA1B_uc022bqn.1_Missense_Mutation_p.A451T|CACNA1B_uc011mfd.2_Missense_Mutation_p.A53T	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA.	451					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	CTTCGCCCGCGCCAGCCTCAA	0.602000														6			4		0	0	1	0	0
DUOX1	53905	broad.mit.edu	37	15	45426379	45426379	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:45426379C>T	uc001zus.1	+	4	525	c.179C>T	c.(178-180)gCa>gTa	p.A60V	DUOX1_uc001zut.1_Missense_Mutation_p.A60V|DUOX1_uc010bee.1_5'UTR	NM_017434	NP_787954	Q9NRD9	DUOX1_HUMAN	Homo sapiens dual oxidase 1 (DUOX1), transcript variant 1, mRNA.	60	Peroxidase-like; mediates peroxidase activity.				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	NAD(P)H oxidase activity|NADP binding|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|peroxidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		GCCAGCTATGCAGATGGCGTG	0.632000														24			13		0	0	1	0	0
VAC14	55697	broad.mit.edu	37	16	70796894	70796894	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:70796894C>T	uc002ezm.3	-	10	1453	c.1195G>A	c.(1195-1197)Ggg>Agg	p.G399R	VAC14_uc010cfw.3_Missense_Mutation_p.G165R|VAC14_uc002ezn.3_Intron|LOC100130894_uc002ezp.2_Intron	NM_018052	NP_060522	Q08AM6	VAC14_HUMAN	Homo sapiens Vac14 homolog (S. cerevisiae) (VAC14), mRNA.	399					interspecies interaction between organisms	endoplasmic reticulum|endosome membrane|microsome	protein binding|receptor activity	p.G399W(2)		breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Ovarian(137;0.0699)				TGCACGATCCCGTCGAGGTGA	0.557000														43			5		0	0	1	0	0
RPP40	10799	broad.mit.edu	37	6	4996525	4996525	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:4996525G>A	uc003mwl.3	-	5	724	c.689C>T	c.(688-690)aCg>aTg	p.T230M	RPP40_uc003mwm.3_Missense_Mutation_p.T207M	NM_006638	NP_006629	O75818	RPP40_HUMAN	Homo sapiens ribonuclease P/MRP 40kDa subunit (RPP40), mRNA.	230					tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity			NS(1)|breast(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|urinary_tract(1)	14	Ovarian(93;0.11)	all_hematologic(90;0.0895)				CACCTCTGGCGTTCCCTCCAG	0.567000														47			31		0	0	1	0	0
GPR77	27202	broad.mit.edu	37	19	47844828	47844828	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:47844828G>A	uc002pgk.1	+	1	843	c.772G>A	c.(772-774)Gtg>Atg	p.V258M	GPR77_uc010ela.1_Missense_Mutation_p.V258M|GPR77_uc021uwn.1_Missense_Mutation_p.V258M	NM_018485	NP_060955	Q9P296	C5ARL_HUMAN	Homo sapiens G protein-coupled receptor 77 (GPR77), mRNA.	258					chemotaxis	integral to membrane|plasma membrane	C5a anaphylatoxin receptor activity			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		all_cancers(25;1.72e-06)|all_lung(116;2.15e-05)|all_epithelial(76;3.44e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.0652)|Ovarian(192;0.086)		all cancers(93;0.000129)|OV - Ovarian serous cystadenocarcinoma(262;0.000415)|Epithelial(262;0.0109)|GBM - Glioblastoma multiforme(486;0.0138)		GGTGCTCACTGTGGCGGCCCC	0.677000														28			25		0	0	1	0	0
PKD1L1	168507	broad.mit.edu	37	7	47847887	47847887	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:47847887G>A	uc003tny.2	-	51	7819	c.7785C>T	c.(7783-7785)tgC>tgT	p.C2595C	C7orf69_uc003tnz.4_Intron|C7orf69_uc003toa.1_Intron	NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA.	2595					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						TAAATGCTCGGCAAAGTCCTC	0.517000														58			5		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140857116	140857116	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140857116A>G	uc003lkv.2	+	0	1548	c.1433A>G	c.(1432-1434)aAc>aGc	p.N478S	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lkq.2_Intron|PCDHGC5_uc003lkp.2_Intron|PCDHGC5_uc003lkt.2_Intron|PCDHGC5_uc003lku.1_Missense_Mutation_p.N478S|PCDHGC5_uc003lkw.2_Intron	NM_002588	NP_002579	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily C, 3 (PCDHGC3), transcript variant 1, mRNA.	475	Cadherin 5.				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)			CCAATACTAAACCTAAGTGTC	0.502000														124			14		0	0	1	0	0
USP32	84669	broad.mit.edu	37	17	58267980	58267980	+	Missense_Mutation	SNP	C	T	T	rs145667783		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:58267980C>T	uc002iyo.1	-	28	3872	c.3586G>A	c.(3586-3588)Gct>Act	p.A1196T	USP32_uc002iyn.1_Missense_Mutation_p.A866T	NM_032582	NP_115971	Q8NFA0	UBP32_HUMAN	Homo sapiens ubiquitin specific peptidase 32 (USP32), mRNA.	1196					protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			CAATCCACAGCGATATAGGCA	0.423000														129			14		0	0	1	0	0
TMEM67	91147	broad.mit.edu	37	8	94793134	94793134	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:94793134A>G	uc011lgk.2	+	8	973	c.902A>G	c.(901-903)gAc>gGc	p.D301G	TMEM67_uc010mat.1_Missense_Mutation_p.D216G|TMEM67_uc010maw.2_Intron|TMEM67_uc003yga.4_Missense_Mutation_p.D220G	NM_153704	NP_714915	Q5HYA8	MKS3_HUMAN	Homo sapiens transmembrane protein 67 (TMEM67), transcript variant 1, mRNA.	301					ER-associated protein catabolic process|cilium assembly|negative regulation of centrosome duplication	centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body	unfolded protein binding			breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			TTTTATGGAGACCAGTTAGGA	0.318000														98			54		0	0	1	0	0
FAM208A	23272	broad.mit.edu	37	3	56675539	56675539	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:56675539G>A	uc003did.4	-	14	2558	c.2457C>T	c.(2455-2457)acC>acT	p.T819T	FAM208A_uc003dic.4_Silent_p.T423T|FAM208A_uc003die.4_Silent_p.T819T	NM_015224	NP_056039	Q9UK61	CC063_HUMAN	Homo sapiens family with sequence similarity 208, member A (FAM208A), transcript variant 2, mRNA.	819										NS(1)|breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(11)|prostate(3)|skin(1)	32						TCTTATCTGGGGTAGAGTTCA	0.408000														40			14		0	0	1	0	0
GPR45	11250	broad.mit.edu	37	2	105858813	105858813	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:105858813G>A	uc002tco.1	+	0	614	c.498G>A	c.(496-498)tcG>tcA	p.S166S		NM_007227	NP_009158	Q9Y5Y3	GPR45_HUMAN	Homo sapiens G protein-coupled receptor 45 (GPR45), mRNA.	166						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						CGGGGCCCTCGCTCACGGGCT	0.692000														15			9		0	0	1	0	0
CDC25C	995	broad.mit.edu	37	5	137627773	137627773	+	Silent	SNP	C	T	T	rs116617843	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:137627773C>T	uc003lcs.1	-	7	1082	c.882G>A	c.(880-882)tcG>tcA	p.S294S	CDC25C_uc003lcp.1_Silent_p.S216S|CDC25C_uc003lcq.1_Silent_p.S143S|CDC25C_uc003lcr.1_Silent_p.S216S|CDC25C_uc011cyp.1_Silent_p.S233S	NM_001790	NP_001781	P30307	MPIP3_HUMAN	Homo sapiens cell division cycle 25 homolog C (S. pombe) (CDC25C), transcript variant 1, mRNA.	216					DNA replication|G2/M transition of mitotic cell cycle|cell cycle checkpoint|cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of mitosis|traversing start control point of mitotic cell cycle	cytosol|nucleoplasm	WW domain binding|protein tyrosine phosphatase activity			endometrium(2)|kidney(3)|large_intestine(5)|lung(5)|skin(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			TCTCTGGCATCGACGGGGAGC	0.448000														90			54		0	0	1	0	0
ULBP3	79465	broad.mit.edu	37	6	150386666	150386666	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:150386666C>A	uc003qns.3	-	2	577	c.496G>T	c.(496-498)Gcc>Tcc	p.A166S	ULBP3_uc011eej.1_Missense_Mutation_p.A41S|ULBP3_uc011eek.1_Missense_Mutation_p.A117S	NM_024518	NP_078794	Q9BZM4	N2DL3_HUMAN	Homo sapiens UL16 binding protein 3 (ULBP3), mRNA.	166	MHC class I alpha-2 like.				antigen processing and presentation|immune response|natural killer cell activation	MHC class I protein complex|anchored to membrane	MHC class I receptor activity			central_nervous_system(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	9		Ovarian(120;0.12)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.45e-12)		ATCCGCCTGGCTCCAGCGTGA	0.512000														107			12		1.05317e-09	1.25904e-09	1	1	0
TRA2A	29896	broad.mit.edu	37	7	23545428	23545428	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:23545428G>A	uc003swi.3	-	6	988	c.775C>T	c.(775-777)Cga>Tga	p.R259*	TRA2A_uc011jzb.2_Splice_Site|TRA2A_uc011jzc.2_Nonsense_Mutation_p.R158*|TRA2A_uc011jzd.2_Nonsense_Mutation_p.R158*	NM_013293	NP_037425	Q13595	TRA2A_HUMAN	Homo sapiens transformer 2 alpha homolog (Drosophila) (TRA2A), mRNA.	259	Arg/Ser-rich (RS2 domain).				nuclear mRNA splicing, via spliceosome	nucleus	RNA binding|nucleotide binding			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10						GAAGGTGATCGTCTTCTGTAA	0.333000														46			61		0	0	1	0	0
DDX10	1662	broad.mit.edu	37	11	108547831	108547831	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:108547831G>A	uc001pkm.3	+	3	463	c.398G>A	c.(397-399)cGt>cAt	p.R133H	DDX10_uc001pkl.1_Missense_Mutation_p.R133H	NM_004398	NP_004389	Q13206	DDX10_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 10 (DDX10), mRNA.	133	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		GCCTTATATCGTCTGCAATGG	0.453000			T	NUP98	AML*									71			30		0	0	1	0	0
KIAA0240	23506	broad.mit.edu	37	6	42832680	42832680	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:42832680G>A	uc003osn.1	+	12	2887	c.2736G>A	c.(2734-2736)gtG>gtA	p.V912V	KIAA0240_uc011duw.1_Silent_p.V912V|KIAA0240_uc003osp.1_Silent_p.V912V	NM_015349	NP_056164	Q6AI39	K0240_HUMAN	Homo sapiens KIAA0240 (KIAA0240), mRNA.	912										NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(3)|skin(3)	44	Colorectal(47;0.196)		Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00524)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.104)			TGGGCTTAGTGCAGTACCAGA	0.517000														21			18		0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	34042459	34042459	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:34042459C>A	uc001zhi.3	+	56	8441	c.8371C>A	c.(8371-8373)Ctc>Atc	p.L2791I	RYR3_uc010bar.3_Missense_Mutation_p.L2791I	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	2791	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GTTTAAGTTCCTCCAAGTGAA	0.502000														22			3		0.115264	0.116841	1	1	0
CWF19L1	55280	broad.mit.edu	37	10	102005616	102005616	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:102005616G>A	uc001kqq.1	-	8	991	c.904C>T	c.(904-906)Cgt>Tgt	p.R302C	CWF19L1_uc001kqs.1_Missense_Mutation_p.R54C|CWF19L1_uc001kqr.1_Missense_Mutation_p.R302C|CWF19L1_uc001kqt.1_Silent_p.S7S|CWF19L1_uc010qpn.1_Missense_Mutation_p.R165C	NM_018294	NP_060764	Q69YN2	C19L1_HUMAN	Homo sapiens CWF19-like 1, cell cycle control (S. pombe) (CWF19L1), mRNA.	302							catalytic activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|stomach(2)	17		Colorectal(252;0.117)		Epithelial(162;3.78e-10)|all cancers(201;3.1e-08)		GTGGATGAACGCTTCCTTCCC	0.398000														87			11		0	0	1	0	0
C14orf43	91748	broad.mit.edu	37	14	74189447	74189447	+	Missense_Mutation	SNP	G	A	A	rs148804472	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:74189447G>A	uc010tud.1	-	8	2925	c.2678C>T	c.(2677-2679)aCg>aTg	p.T893M	C14orf43_uc001xos.3_Missense_Mutation_p.T158M|C14orf43_uc001xot.3_Missense_Mutation_p.T893M|C14orf43_uc001xou.3_Missense_Mutation_p.T893M|C14orf43_uc010arw.2_Non-coding_Transcript	NM_194278	NP_919254	Q6PJG2	CN043_HUMAN	Homo sapiens chromosome 14 open reading frame 43 (C14orf43), transcript variant 1, mRNA.	893					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(4)	37				BRCA - Breast invasive adenocarcinoma(234;0.00358)|KIRC - Kidney renal clear cell carcinoma(182;0.0878)|OV - Ovarian serous cystadenocarcinoma(108;0.115)		CTCATCGCTCGTATCCACATC	0.542000														130			89		0	0	1	0	0
DLG5	9231	broad.mit.edu	37	10	79628942	79628942	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:79628942G>A	uc001jzk.3	-	1	388	c.318C>T	c.(316-318)agC>agT	p.S106S	DLG5_uc009xru.1_Non-coding_Transcript|AK125684_uc001jzm.1_3'UTR	NM_004747	NP_004738	Q8TDM6	DLG5_HUMAN	Homo sapiens discs, large homolog 5 (Drosophila) (DLG5), mRNA.	106					cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity	p.S106N(1)		breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			TGGACAGGACGCTGTAGGTAG	0.592000														27			22		0	0	1	0	0
SNORA14A	677801	broad.mit.edu	37	7	75573233	75573233	+	Splice_Site	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:75573233C>T	uc003udz.1	+	1		c.134_splice	c.e1+1		POR_uc003udy.3_Intron					Homo sapiens small nucleolar RNA, H/ACA box 14A (SNORA14A), small nucleolar RNA.																		CCTGCAACATCTTTTAAGGGA	0.408000														68			29		0	0	1	0	0
ZNF132	7691	broad.mit.edu	37	19	58945037	58945037	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58945037C>A	uc002qst.4	-	2	2175	c.1774G>T	c.(1774-1776)Gtt>Ttt	p.V592F		NM_003433	NP_003424	P52740	ZN132_HUMAN	Homo sapiens zinc finger protein 132 (ZNF132), mRNA.	592						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(1)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182)		CCAGTATGAACTTTCTGATGC	0.393000														88			23		4.4004e-07	5.03744e-07	1	1	0
KITLG	4254	broad.mit.edu	37	12	88926274	88926274	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:88926274T>C	uc001tav.3	-	2	331	c.136A>G	c.(136-138)Aat>Gat	p.N46D	KITLG_uc001taw.3_Missense_Mutation_p.N46D|KITLG_uc009zso.1_Non-coding_Transcript	NM_000899	NP_000890	P21583	SCF_HUMAN	Homo sapiens KIT ligand (KITLG), transcript variant b, mRNA.	46					cell adhesion|cell proliferation|hemopoiesis|male gonad development|positive regulation of DNA replication|signal transduction	cytoplasm|cytoskeleton|integral to membrane|plasma membrane	growth factor activity|identical protein binding|stem cell factor receptor binding			kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)	9						TTTGGAAGATTTGCCACCTAC	0.328000									Testicular Cancer, Familial Clustering of					88			6		0	0	1	0	0
BIRC2	329	broad.mit.edu	37	11	102239204	102239204	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:102239204G>A	uc001pgy.3	+	5	2690	c.1291G>A	c.(1291-1293)Gtg>Atg	p.V431M	BIRC2_uc010ruq.2_Missense_Mutation_p.V382M|BIRC2_uc010rur.2_Missense_Mutation_p.V431M	NM_001166	NP_001157	Q13490	BIRC2_HUMAN	Homo sapiens baculoviral IAP repeat containing 2 (BIRC2), mRNA.	431					cell surface receptor linked signaling pathway|cellular component disassembly involved in apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination	CD40 receptor complex|cytosol|internal side of plasma membrane	protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|Epithelial(9;0.11)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0144)		TAATGATATTGTGTCAGCACT	0.383000														61			47		0	0	1	0	0
ITGB4	3691	broad.mit.edu	37	17	73723542	73723542	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:73723542C>T	uc002jpg.3	+	3	407	c.220C>T	c.(220-222)Cgg>Tgg	p.R74W	ITGB4_uc002jph.3_Missense_Mutation_p.R74W|ITGB4_uc010dgo.3_Missense_Mutation_p.R74W|ITGB4_uc002jpi.4_Missense_Mutation_p.R74W|ITGB4_uc010dgp.1_Missense_Mutation_p.R74W|ITGB4_uc002jpj.3_Missense_Mutation_p.R74W	NM_000213	NP_000204	P16144	ITB4_HUMAN	Homo sapiens integrin, beta 4 (ITGB4), transcript variant 1, mRNA.	74					cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			GGGCTGCCAGCGGGAGAGCAT	0.652000														11			10		0	0	1	0	0
RBM10	8241	broad.mit.edu	37	X	47039292	47039292	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:47039292C>T	uc004dhi.3	+	9	1339	c.1110C>T	c.(1108-1110)cgC>cgT	p.R370R	RBM10_uc004dhf.3_Silent_p.R305R|RBM10_uc004dhh.3_Silent_p.R305R|RBM10_uc010nhq.3_Silent_p.R228R|RBM10_uc004dhg.3_Silent_p.R228R	NM_001204468	NP_001191397	P98175	RBM10_HUMAN	Homo sapiens RNA binding motif protein 10 (RBM10), transcript variant 5, mRNA.	305	RRM 2.				RNA splicing|mRNA processing	chromatin remodeling complex	RNA binding|nucleotide binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						TCATTTTGCGCAACCTGAACC	0.602000														5			6		0	0	1	0	0
QSER1	79832	broad.mit.edu	37	11	32954223	32954223	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:32954223C>T	uc001mty.3	+	3	1299	c.1032C>T	c.(1030-1032)taC>taT	p.Y344Y	QSER1_uc001mtz.1_Intron|QSER1_uc001mua.3_5'Flank	NM_001076786	NP_001070254	Q2KHR3	QSER1_HUMAN	Homo sapiens glutamine and serine rich 1 (QSER1), mRNA.	344	Ser-rich.									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)					CCCAAAATTACGGTTTAGTAC	0.388000														83			34		0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	17164793	17164793	+	Splice_Site	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:17164793C>T	uc001ioo.3	-	6	645	c.593_splice	c.e6+1	p.S198_splice		NM_001081	NP_001072	O60494	CUBN_HUMAN	Homo sapiens cubilin (intrinsic factor-cobalamin receptor) (CUBN), mRNA.	198	EGF-like 2; calcium-binding (Potential).				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AAAAAAGTTACCTGTAACTTC	0.363000														9			12		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140236494	140236494	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140236494G>A	uc003lhx.2	+	0	861	c.861G>A	c.(859-861)acG>acA	p.T287T	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Silent_p.T287T|PCDHAC2_uc011dad.2_Silent_p.T287T	NM_018901	NP_061724	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 10 (PCDHA10), transcript variant 1, mRNA.	303	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)			TCCCACCCACGATAAGAAGGA	0.363000														52			32		0	0	1	0	0
L3MBTL3	84456	broad.mit.edu	37	6	130372423	130372423	+	Silent	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:130372423A>C	uc003qbt.3	+	5	495	c.319A>C	c.(319-321)Agg>Cgg	p.R107R	L3MBTL3_uc003qbu.3_Silent_p.R82R	NM_032438	NP_115814	Q96JM7	LMBL3_HUMAN	Homo sapiens l(3)mbt-like 3 (Drosophila) (L3MBTL3), transcript variant 1, mRNA.	107					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1)	43				GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)		GATGCCTTTCAGGTTGAAGGA	0.388000														51			36		0	0	1	0	0
SYNJ1	8867	broad.mit.edu	37	21	34018894	34018894	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:34018894C>A	uc002yqh.2	-	23	3173	c.3173G>T	c.(3172-3174)aGt>aTt	p.S1058I	SYNJ1_uc011ads.1_Missense_Mutation_p.S1014I|SYNJ1_uc002yqf.2_Missense_Mutation_p.S1019I|SYNJ1_uc002yqg.2_Missense_Mutation_p.S1014I|SYNJ1_uc002yqi.2_Missense_Mutation_p.S1058I	NM_003895	NP_003886	O43426	SYNJ1_HUMAN	Homo sapiens synaptojanin 1 (SYNJ1), transcript variant 1, mRNA.	1019	Pro-rich.						RNA binding|inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						CACTTCAGCACTATAGTCATC	0.448000														26			31		6.38683e-12	7.84313e-12	1	1	0
PORCN	64840	broad.mit.edu	37	X	48368273	48368273	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:48368273C>T	uc010nie.1	+	1	223	c.65C>T	c.(64-66)gCc>gTc	p.A22V	PORCN_uc004djq.1_Missense_Mutation_p.A135V|PORCN_uc004djr.1_Missense_Mutation_p.A22V|PORCN_uc004djs.1_Missense_Mutation_p.A22V|PORCN_uc011mlx.1_5'UTR|PORCN_uc004dju.1_5'UTR|PORCN_uc004djv.1_Missense_Mutation_p.A22V|PORCN_uc004djw.1_Missense_Mutation_p.A22V	NM_203475	NP_982301	Q9H237	PORCN_HUMAN	Homo sapiens porcupine homolog (Drosophila) (PORCN), transcript variant D, mRNA.	22	Leu-rich.				Wnt receptor signaling pathway	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CTGCCTACTGCCCAGCAGGGC	0.607000														36			10		0	0	1	0	0
KDM3A	55818	broad.mit.edu	37	2	86719198	86719198	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:86719198G>T	uc002sri.4	+	25	4249	c.3922G>T	c.(3922-3924)Gtt>Ttt	p.V1308F	KDM3A_uc010ytj.2_Missense_Mutation_p.V1308F|KDM3A_uc010ytk.2_Missense_Mutation_p.V1256F	NM_018433	NP_060903	Q9Y4C1	KDM3A_HUMAN	Homo sapiens lysine (K)-specific demethylase 3A (KDM3A), transcript variant 1, mRNA.	1308					androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						GAAAGATGCAGTTGCTATGCT	0.378000														20			9		5.4927e-09	6.49148e-09	1	1	0
PYGM	5837	broad.mit.edu	37	11	64527346	64527346	+	Nonsense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:64527346C>A	uc001oax.4	-	0	842	c.25G>T	c.(25-27)Gag>Tag	p.E9*	PYGM_uc001oay.4_Nonsense_Mutation_p.E9*	NM_005609	NP_005600	P11217	PYGM_HUMAN	Homo sapiens phosphorylase, glycogen, muscle (PYGM), transcript variant 1, mRNA.	9					glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	TTTCTTTTCTCTTGGTCTGAC	0.592000														87			7		0.000157383	0.000170012	1	1	0
MCM3	4172	broad.mit.edu	37	6	52137116	52137116	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:52137116T>C	uc003pan.1	-	11	1920	c.1810A>G	c.(1810-1812)Agc>Ggc	p.S604G	MCM3_uc011dwu.1_Missense_Mutation_p.S558G	NM_002388	NP_002379	P25205	MCM3_HUMAN	Homo sapiens minichromosome maintenance complex component 3 (MCM3), mRNA.	604					DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint	MCM complex|alpha DNA polymerase:primase complex|centrosome|perinuclear region of cytoplasm	ATP binding|DNA binding|helicase activity|protein binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Lung NSC(77;0.0931)					GTGTCTGAGCTCATGCTATCC	0.567000														64			10		0	0	1	0	0
ZNF528	84436	broad.mit.edu	37	19	52918740	52918740	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:52918740C>A	uc002pzh.3	+	6	1061	c.635C>A	c.(634-636)cCt>cAt	p.P212H	ZNF528_uc002pzi.3_5'UTR	NM_032423	NP_115799	Q3MIS6	ZN528_HUMAN	Homo sapiens zinc finger protein 528 (ZNF528), mRNA.	212					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		GCAGATAATCCTTACAAATGC	0.398000														76			6		0.217242	0.21859	1	1	0
IRF1	3659	broad.mit.edu	37	5	131822515	131822515	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:131822515C>T	uc003kxa.2	-	4	620	c.386G>A	c.(385-387)cGa>cAa	p.R129Q	C5orf56_uc010jds.2_3'UTR|IRF1_uc003kxd.2_Non-coding_Transcript|IRF1_uc003kxb.2_Missense_Mutation_p.R129Q|IRF1_uc010jdt.2_Missense_Mutation_p.R129Q	NM_002198	NP_002189	P10914	IRF1_HUMAN	Homo sapiens interferon regulatory factor 1 (IRF1), mRNA.	129					blood coagulation|cellular response to mechanical stimulus|interferon-gamma-mediated signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleoplasm				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|urinary_tract(1)	11		all_cancers(142;0.026)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	LUAD - Lung adenocarcinoma(142;0.247)		CTTAGCATCTCGGCTGGACTT	0.592000														66			31		0	0	1	0	0
C15orf26	161502	broad.mit.edu	37	15	81429027	81429027	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:81429027C>A	uc002bgb.3	+	2	357	c.330C>A	c.(328-330)ccC>ccA	p.P110P	C15orf26_uc010blp.1_Silent_p.P85P	NM_173528	NP_775799	Q6P656	CO026_HUMAN	Homo sapiens chromosome 15 open reading frame 26 (C15orf26), mRNA.	110										endometrium(1)|kidney(4)|large_intestine(5)|lung(6)|skin(1)	17						TAGAGGTACCCTGTGGCCTGA	0.433000														34			22		1.10513e-12	1.3661e-12	1	1	0
TPCN1	53373	broad.mit.edu	37	12	113724881	113724881	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:113724881G>A	uc001tux.3	+	19	2006	c.1832G>A	c.(1831-1833)cGc>cAc	p.R611H	TPCN1_uc001tuw.3_Missense_Mutation_p.R539H|TPCN1_uc010syt.1_Missense_Mutation_p.R471H	NM_001143819	NP_060371	Q9ULQ1	TPC1_HUMAN	Homo sapiens two pore segment channel 1 (TPCN1), transcript variant 1, mRNA.	539						endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						GTGGTCCTGCGCCCCCTCCAG	0.612000														54			34		0	0	1	0	0
TMEM155	132332	broad.mit.edu	37	4	122682771	122682771	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:122682771T>C	uc003idx.1	-	4	693	c.134A>G	c.(133-135)cAt>cGt	p.H45R		NM_152399	NP_689612	Q4W5P6	TM155_HUMAN	Homo sapiens transmembrane protein 155 (TMEM155), mRNA.	45						extracellular region				breast(1)|lung(5)	6						AGCCAGTGCATGGCACACTCT	0.433000														44			6		0	0	1	0	0
TEX33	339669	broad.mit.edu	37	22	37398094	37398094	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:37398094C>T	uc003aqf.3	-	2	419	c.273G>A	c.(271-273)agG>agA	p.R91R	TEX33_uc003aqe.3_Silent_p.R6R	NM_001163857	NP_848647	O43247	EAN57_HUMAN	Homo sapiens chromosome 22 open reading frame 33 (C22orf33), transcript variant 1, mRNA.	91																	TCTTCAGGGACCTGGACTGTG	0.642000														10			10		0	0	1	0	0
UBASH3A	53347	broad.mit.edu	37	21	43829702	43829702	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:43829702C>T	uc002zbe.3	+	2	423	c.339C>T	c.(337-339)ctC>ctT	p.L113L	UBASH3A_uc002zbf.3_Silent_p.L113L|UBASH3A_uc010gpe.3_Silent_p.L113L|UBASH3A_uc010gpc.3_Non-coding_Transcript|UBASH3A_uc010gpd.3_Non-coding_Transcript	NM_018961	NP_061834	P57075	UBS3A_HUMAN	Homo sapiens ubiquitin associated and SH3 domain containing A (UBASH3A), transcript variant 1, mRNA.	113						cytosol|nucleus				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						ACGTGACACTCTGTGACTTCT	0.522000														61			4		0	0	1	0	0
GPCPD1	56261	broad.mit.edu	37	20	5560710	5560710	+	Nonsense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:5560710A>C	uc002wme.4	-	6	630	c.417T>G	c.(415-417)taT>taG	p.Y139*	GPCPD1_uc002wmd.4_5'UTR	NM_019593	NP_062539	Q9NPB8	GPCP1_HUMAN	Homo sapiens glycerophosphocholine phosphodiesterase GDE1 homolog (S. cerevisiae) (GPCPD1), mRNA.	139					glycerol metabolic process|lipid metabolic process		carbohydrate binding|glycerophosphodiester phosphodiesterase activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1)	16						GTTTTTCAGAATAATGCAAAC	0.313000														30			28		0	0	1	0	0
IGSF8	93185	broad.mit.edu	37	1	160064677	160064677	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:160064677C>T	uc001fva.3	-	1	469	c.424G>A	c.(424-426)Ggc>Agc	p.G142S	IGSF8_uc001fuz.3_Missense_Mutation_p.G142S|IGSF8_uc009wtf.3_Missense_Mutation_p.G142S	NM_052868	NP_443100	Q969P0	IGSF8_HUMAN	Homo sapiens immunoglobulin superfamily, member 8 (IGSF8), transcript variant 1, mRNA.	142	Ig-like C2-type 1.				cell proliferation|cellular component movement|nervous system development|single fertilization|skeletal muscle tissue development	integral to membrane	protein binding	p.G142S(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(19)|pancreas(1)|prostate(1)|skin(1)	33	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			TCCACCTTGCCGCTGTAGCTG	0.617000														18			13		0	0	1	0	0
PLB1	151056	broad.mit.edu	37	2	28762004	28762004	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:28762004G>T	uc002rmb.2	+	10	701	c.657G>T	c.(655-657)gaG>gaT	p.E219D	PLB1_uc010ezj.2_Missense_Mutation_p.E230D	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN	Homo sapiens phospholipase B1 (PLB1), transcript variant 1, mRNA.	219	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					ACCTCTCTGAGGTTGCAGAGG	0.562000														54			6		0.248553	0.249802	1	1	0
CUL4B	8450	broad.mit.edu	37	X	119693958	119693958	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:119693958A>G	uc004esw.3	-	2	1027	c.590T>C	c.(589-591)tTa>tCa	p.L197S	CUL4B_uc004esv.3_Missense_Mutation_p.L179S	NM_003588	NP_003579	Q13620	CUL4B_HUMAN	Homo sapiens cullin 4B (CUL4B), transcript variant 1, mRNA.	197					DNA repair|cell cycle|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CTTGATCACTAACTTCTTAGC	0.423000														84			41		0	0	1	0	0
GHRHR	2692	broad.mit.edu	37	7	31011684	31011684	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:31011684G>A	uc003tbx.3	+	5	619	c.571G>A	c.(571-573)Gac>Aac	p.D191N	GHRHR_uc003tby.3_Missense_Mutation_p.D127N|GHRHR_uc003tbz.3_Silent_p.T8T	NM_000823	NP_000814	Q02643	GHRHR_HUMAN	Homo sapiens growth hormone releasing hormone receptor (GHRHR), mRNA.	191					activation of adenylate cyclase activity by G-protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to estrogen stimulus|response to glucocorticoid stimulus	cell surface|integral to membrane|nuclear inner membrane|nuclear matrix|nuclear outer membrane|plasma membrane|stored secretory granule	growth factor binding|growth hormone-releasing hormone receptor activity|peptide hormone binding			biliary_tract(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35					Sermorelin(DB00010)	CCACAGCGACGACACTGACCA	0.587000														30			27		0	0	1	0	0
TP63	8626	broad.mit.edu	37	3	189587135	189587135	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:189587135T>C	uc003fry.2	+	8	1241	c.1152T>C	c.(1150-1152)ggT>ggC	p.G384G	TP63_uc003frx.2_Silent_p.G384G|TP63_uc003frz.2_Silent_p.G384G|TP63_uc010hzc.1_Silent_p.G384G|TP63_uc003fsa.2_Silent_p.G290G|TP63_uc003fsb.2_Silent_p.G290G|TP63_uc003fsc.2_Silent_p.G290G|TP63_uc003fsd.2_Silent_p.G290G|TP63_uc021xir.1_Silent_p.G290G|TP63_uc010hzd.1_Silent_p.G205G|TP63_uc003fse.1_Silent_p.G261G	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	Homo sapiens tumor protein p63 (TP63), transcript variant 1, mRNA.	384	Interaction with HIPK2.				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|Notch signaling pathway|anti-apoptosis|cellular response to UV|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to X-ray|response to gamma radiation	Golgi apparatus|chromatin|cytosol|dendrite|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		ACACACATGGTATCCAGATGA	0.383000										HNSCC(45;0.13)				30			3		0	0	1	0	0
UBTD1	80019	broad.mit.edu	37	10	99329915	99329915	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:99329915G>A	uc001knv.1	+	2	512	c.319G>A	c.(319-321)Gat>Aat	p.D107N	ANKRD2_uc001knw.3_5'Flank|ANKRD2_uc009xvu.3_5'Flank	NM_024954	NP_079230	Q9HAC8	UBTD1_HUMAN	Homo sapiens ubiquitin domain containing 1 (UBTD1), mRNA.	107								p.Y106Y(1)		central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(1)|skin(1)	7		Colorectal(252;0.162)		Epithelial(162;3.04e-10)|all cancers(201;2.86e-08)		TGAATGCTACGATGAGCTGGG	0.582000														81			51		0	0	1	0	0
TOR4A	54863	broad.mit.edu	37	9	140174000	140174000	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:140174000C>T	uc022bqh.1	+	0	859	c.859C>T	c.(859-861)Cgc>Tgc	p.R287C	TOR4A_uc004cmn.3_Missense_Mutation_p.R287C	NM_017723	NP_060193	Q9NXH8	CI167_HUMAN	Homo sapiens chromosome 9 open reading frame 167 (C9orf167), mRNA.	287					chaperone mediated protein folding requiring cofactor	integral to membrane	ATP binding|nucleoside-triphosphatase activity										GCAGCCGCAGCGCTCCCACCA	0.697000														4			3		0	0	1	0	0
TEX13B	56156	broad.mit.edu	37	X	107225148	107225148	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:107225148G>A	uc004enn.1	-	1	303	c.210C>T	c.(208-210)ggC>ggT	p.G70G		NM_031273	NP_112563	Q9BXU2	TX13B_HUMAN	Homo sapiens testis expressed 13B (TEX13B), mRNA.	70										breast(1)|endometrium(5)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28						AGGCCAGGCTGCCCCAGGTGC	0.597000														93			45		0	0	1	0	0
PRRC2A	7916	broad.mit.edu	37	6	31598957	31598957	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31598957C>T	uc003nvb.4	+	15	2756	c.2507C>T	c.(2506-2508)gCc>gTc	p.A836V	PRRC2A_uc011dnv.1_Intron|PRRC2A_uc003nvc.4_Missense_Mutation_p.A836V	NM_080686	NP_542417	P48634	PRC2A_HUMAN	Homo sapiens proline-rich coiled-coil 2A (PRRC2A), transcript variant 1, mRNA.	836	4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						CCCTATCTGGCCAGTTATCCA	0.577000														60			31		0	0	1	0	0
HIVEP2	3097	broad.mit.edu	37	6	143074516	143074516	+	Missense_Mutation	SNP	G	A	A	rs78304150	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:143074516G>A	uc003qjd.3	-	9	7812	c.7069C>T	c.(7069-7071)Ccc>Tcc	p.P2357S		NM_006734	NP_006725	P31629	ZEP2_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 2 (HIVEP2), mRNA.	2357					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		TTCTGGTGGGGCTCCTGCACC	0.567000														29			12		0	0	1	0	0
C2CD2	25966	broad.mit.edu	37	21	43309427	43309427	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:43309427G>A	uc002yzw.3	-	13	2139	c.1897C>T	c.(1897-1899)Ctg>Ttg	p.L633L	C2CD2_uc002yzs.3_Silent_p.L102L|C2CD2_uc002yzt.3_Silent_p.L249L|C2CD2_uc002yzu.3_Silent_p.L465L|C2CD2_uc002yzv.3_Silent_p.L478L	NM_015500	NP_950251	Q9Y426	CU025_HUMAN	Homo sapiens C2 calcium-dependent domain containing 2 (C2CD2), transcript variant 1, mRNA.	633						cytosol|extracellular region|nucleus				endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1)	15						CGGAAGAACAGCTTTGCACCT	0.557000														23			14		0	0	1	0	0
KIF27	55582	broad.mit.edu	37	9	86523414	86523414	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:86523414G>A	uc004ana.3	-	2	596	c.452C>T	c.(451-453)aCa>aTa	p.T151I	KIF27_uc010mpw.3_Missense_Mutation_p.T151I|KIF27_uc010mpx.3_Missense_Mutation_p.T151I	NM_017576	NP_060046	Q86VH2	KIF27_HUMAN	Homo sapiens kinesin family member 27 (KIF27), mRNA.	151	Kinesin-motor.				cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						CTTCATGGATGTCTCCAATTC	0.358000														79			52		0	0	1	0	0
BSN	8927	broad.mit.edu	37	3	49699822	49699822	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49699822G>A	uc003cxe.4	+	5	10658	c.10544G>A	c.(10543-10545)cGc>cAc	p.R3515H		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.	3515					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		GGGAGGCCCCGCCCTGCCGGA	0.662000														17			10		0	0	1	0	0
AMFR	267	broad.mit.edu	37	16	56423204	56423204	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:56423204A>G	uc002eiy.3	-	8	1374	c.1169T>C	c.(1168-1170)gTc>gCc	p.V390A	AMFR_uc002eix.3_Intron	NM_001144	NP_001135	Q9UKV5	AMFR2_HUMAN	Homo sapiens autocrine motility factor receptor (AMFR), mRNA.	390					ER-associated protein catabolic process|endoplasmic reticulum unfolded protein response|protein oligomerization|protein polyubiquitination	integral to endoplasmic reticulum membrane|integral to membrane of membrane fraction	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17						TTCTTCCCTGACACGATTATT	0.453000														58			37		0	0	1	0	0
NR4A2	4929	broad.mit.edu	37	2	157184975	157184975	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:157184975C>T	uc002tyz.4	-	3	1357	c.935G>A	c.(934-936)cGg>cAg	p.R312Q	NR4A2_uc021vri.1_Missense_Mutation_p.R312Q|NR4A2_uc002tyx.4_Missense_Mutation_p.R249Q|NR4A2_uc010zcf.2_Missense_Mutation_p.R312Q|NR4A2_uc010zcg.1_5'Flank	NM_006186	NP_006177	P43354	NR4A2_HUMAN	Homo sapiens nuclear receptor subfamily 4, group A, member 2 (NR4A2), mRNA.	312					cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus	nucleoplasm	sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	p.R312Q(2)		breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	40						ACAGCGATTCCGGCGACGCTT	0.493000														37			24		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9072095	9072095	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9072095A>C	uc002mkp.3	-	2	15555	c.15351T>G	c.(15349-15351)atT>atG	p.I5117M		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	5119	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						TAGAAGGAAAAATTTCCTTTG	0.453000														77			11		0	0	1	0	0
SRPK1	6732	broad.mit.edu	37	6	35810363	35810363	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:35810363C>A	uc003olj.3	-	13	1763	c.1639G>T	c.(1639-1641)Ggt>Tgt	p.G547C	SRPK1_uc003olh.3_Missense_Mutation_p.G440C|SRPK1_uc003oli.3_Missense_Mutation_p.G440C|SRPK1_uc011dtg.2_Missense_Mutation_p.G531C	NM_003137	NP_003128	Q96SB4	SRPK1_HUMAN	Homo sapiens SRSF protein kinase 1 (SRPK1), transcript variant 1, mRNA.	547	Protein kinase.				RNA splicing|cell differentiation|chromosome segregation|interspecies interaction between organisms|intracellular protein kinase cascade|mRNA processing|negative regulation of viral genome replication|positive regulation of viral genome replication|regulation of mRNA processing	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(10)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						AAATAGTCACCTGTGGCCAGT	0.418000														21			9		5.4927e-09	6.49148e-09	1	1	0
FUNDC2P2	388965	broad.mit.edu	37	2	84518368	84518368	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:84518368C>T	uc010ffz.1	+	0	563	c.426C>T	c.(424-426)ttC>ttT	p.F142F						Homo sapiens FUN14 domain containing 2 pseudogene 2 (FUNDC2P2), non-coding RNA.																		GGGGATTTTTCGGAGGCTTTC	0.458000														78			53		0	0	1	0	0
SAG	6295	broad.mit.edu	37	2	234235800	234235800	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:234235800G>A	uc002vuh.2	+	6	857	c.469G>A	c.(469-471)Gcc>Acc	p.A157T	SAG_uc010zmq.1_Missense_Mutation_p.A23T	NM_000541	NP_000532	P10523	ARRS_HUMAN	Homo sapiens S-antigen; retina and pineal gland (arrestin) (SAG), mRNA.	157					rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway		protein phosphatase inhibitor activity			cervix(1)|kidney(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	9		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054)		Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207)		CAAAGCATTCGCCACAGACAG	0.587000														52			32		0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	114327022	114327022	+	Splice_Site	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:114327022C>A	uc003ynu.3	-	2	338	c.179_splice	c.e2-1	p.G60_splice	CSMD3_uc003ynt.3_Splice_Site_p.G20_splice|CSMD3_uc011lhx.2_Splice_Site_p.G60_splice|CSMD3_uc010mcx.1_Splice_Site_p.G60_splice|CSMD3_uc003ynx.4_Splice_Site_p.G60_splice	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	60						integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATAAATAAATCCTGCAACAAA	0.318000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				54			25		1.64293e-13	2.04531e-13	1	1	0
TRMT2B	79979	broad.mit.edu	37	X	100276145	100276145	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:100276145C>T	uc004egt.3	-	9	1424	c.1011G>A	c.(1009-1011)ggG>ggA	p.G337G	TRMT2B_uc004egu.3_Silent_p.G218G|TRMT2B_uc004egr.3_Silent_p.G337G|TRMT2B_uc004egv.3_Silent_p.G292G|TRMT2B_uc004egq.3_Silent_p.G337G|TRMT2B_uc004egs.3_Silent_p.G337G	NM_001167970	NP_079193	Q96GJ1	TRM2_HUMAN	Homo sapiens TRM2 tRNA methyltransferase 2 homolog B (S. cerevisiae) (TRMT2B), transcript variant 2, mRNA.	337							tRNA (uracil-5-)-methyltransferase activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	24						CAGTCAGCTCCCCCACAGTCC	0.512000														34			31		0	0	1	0	0
COL6A6	131873	broad.mit.edu	37	3	130300717	130300717	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:130300717C>T	uc010htl.3	+	7	3891	c.3860C>T	c.(3859-3861)aCa>aTa	p.T1287I	COL6A6_uc003eni.4_5'Flank	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	Homo sapiens collagen, type VI, alpha 6 (COL6A6), mRNA.	1287	Nonhelical region.|VWFA 7.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						CTATGGGATACATTTCAGAAT	0.333000														121			54		0	0	1	0	0
ODZ2	57451	broad.mit.edu	37	5	167626996	167626996	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:167626996T>C	uc010jjd.3	+	16	3263	c.3263T>C	c.(3262-3264)aTt>aCt	p.I1088T	ODZ2_uc003lzr.4_Missense_Mutation_p.I865T|ODZ2_uc003lzt.4_Missense_Mutation_p.I461T|ODZ2_uc010jje.3_Missense_Mutation_p.I359T	NM_001122679	NP_001116151			Homo sapiens odz, odd Oz/ten-m homolog 2 (Drosophila) (ODZ2), mRNA.											NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|lung(45)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(2)	122	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		CTGAACCTCATTAGGGTTCAC	0.522000														79			7		0	0	1	0	0
SLC9C1	285335	broad.mit.edu	37	3	111923202	111923202	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:111923202C>T	uc003dyu.3	-	16	2257	c.2035G>A	c.(2035-2037)Gag>Aag	p.E679K	SLC9C1_uc011bhu.2_Intron|SLC9C1_uc010hqc.3_Missense_Mutation_p.E631K	NM_183061	NP_898884	Q4G0N8	S9A10_HUMAN	Homo sapiens solute carrier family 9, member 10 (SLC9A10), mRNA.	679					cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity										ATTGCTAACTCGAATATGTTC	0.289000														79			45		0	0	1	0	0
GNB2L1	10399	broad.mit.edu	37	5	180665164	180665164	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:180665164C>T	uc003mni.1	-	5	818	c.712G>A	c.(712-714)Gcc>Acc	p.A238T	GNB2L1_uc003mnj.1_Missense_Mutation_p.A192T	NM_006098	NP_006089	P63244	GBLP_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), beta polypeptide 2-like 1 (GNB2L1), mRNA.	238					apoptosis|cell cycle|gastrulation|interspecies interaction between organisms|negative regulation of Wnt receptor signaling pathway|negative regulation of cell growth|negative regulation of phagocytosis|negative regulation of translation|positive regulation of GTPase activity|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of gastrulation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein homooligomerization|positive regulation of protein phosphorylation|regulation of cell cycle|regulation of cell division|regulation of establishment of cell polarity|regulation of protein localization|rhythmic process	cytoskeleton|dendrite|midbody|nucleus|perikaryon|perinuclear region of cytoplasm|phagocytic cup|small ribosomal subunit	SH2 domain binding|ion channel inhibitor activity|protein kinase C binding|protein phosphatase binding|protein tyrosine kinase inhibitor activity|receptor tyrosine kinase binding			lung(3)|skin(2)	5	all_cancers(89;8.79e-06)|all_epithelial(37;1.13e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0654)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.101)|all cancers(165;0.11)		AAGCACAGGGCGTTGATGATG	0.542000														79			7		0	0	1	0	0
NLRP4	147945	broad.mit.edu	37	19	56363645	56363645	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:56363645C>T	uc002qmd.4	+	1	621	c.199C>T	c.(199-201)Caa>Taa	p.Q67*		NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA.	67	DAPIN.						ATP binding	p.Q67P(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		TGAAGAACAACAAGCTTGGAA	0.448000														38			26		0	0	1	0	0
GRB7	2886	broad.mit.edu	37	17	37899152	37899152	+	Splice_Site	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:37899152T>C	uc002hsr.3	+	4	582	c.307_splice	c.e4-1	p.V103_splice	GRB7_uc002hss.3_Splice_Site_p.V103_splice|GRB7_uc021twu.1_Splice_Site_p.V126_splice|GRB7_uc010cwc.3_Splice_Site_p.V103_splice|GRB7_uc002hst.3_Splice_Site_p.V103_splice	NM_005310	NP_005301	Q14451	GRB7_HUMAN	Homo sapiens growth factor receptor-bound protein 7 (GRB7), transcript variant 1, mRNA.	103	Ras-associating.				blood coagulation|epidermal growth factor receptor signaling pathway|leukocyte migration|negative regulation of translation|positive regulation of cell migration|stress granule assembly	cytosol|focal adhesion|stress granule	SH3/SH2 adaptor activity|phosphatidylinositol binding|protein kinase binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			GGGGCGCAGGTAGTAAAGGTG	0.587000														44			5		0	0	1	0	0
PALM2-AKAP2	445815	broad.mit.edu	37	9	112899787	112899787	+	Missense_Mutation	SNP	C	T	T	rs150767444		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:112899787C>T	uc004bei.2	+	8	2851	c.2659C>T	c.(2659-2661)Cgt>Tgt	p.R887C	PALM2-AKAP2_uc004bej.4_Missense_Mutation_p.R655C|PALM2-AKAP2_uc004bek.4_Missense_Mutation_p.R655C|PALM2-AKAP2_uc004bel.1_Missense_Mutation_p.R465C|PALM2-AKAP2_uc011lwi.2_Missense_Mutation_p.R513C|PALM2-AKAP2_uc004bem.3_Missense_Mutation_p.R513C|PALM2-AKAP2_uc010mtw.1_Missense_Mutation_p.R473C|PALM2-AKAP2_uc011lwj.2_Missense_Mutation_p.R424C|PALM2-AKAP2_uc004ben.3_Missense_Mutation_p.R424C	NM_001136562	NP_001130034	Q9Y2D5	AKAP2_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 2 (AKAP2), transcript variant 2, mRNA.	424							enzyme binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						GCCTTCTAAACGTGGGCCCTT	0.577000														41			41		0	0	1	0	0
MYOM1	8736	broad.mit.edu	37	18	3151731	3151731	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:3151731C>T	uc002klp.3	-	11	2138	c.1804G>A	c.(1804-1806)Gtg>Atg	p.V602M	MYOM1_uc002klq.3_Missense_Mutation_p.V602M	NM_003803	NP_003794	P52179	MYOM1_HUMAN	Homo sapiens myomesin 1, 185kDa (MYOM1), transcript variant 1, mRNA.	602	Fibronectin type-III 1.					striated muscle myosin thick filament	structural constituent of muscle			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						AGAGCAGCCACGGGCTCGGAA	0.433000											OREG0024839	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		79			10		0	0	1	0	0
ABCC12	94160	broad.mit.edu	37	16	48141301	48141301	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:48141301G>A	uc002efc.1	-	17	2753	c.2407C>T	c.(2407-2409)Ctc>Ttc	p.L803F	ABCC12_uc002eey.1_Non-coding_Transcript|ABCC12_uc002eez.1_Non-coding_Transcript|ABCC12_uc002efa.1_Non-coding_Transcript|ABCC12_uc002efb.1_Non-coding_Transcript|ABCC12_uc002efd.1_Non-coding_Transcript	NM_033226	NP_150229	Q96J65	MRP9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 12 (ABCC12), mRNA.	803	ABC transmembrane type-1 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				ATCATCAGGAGGAAGAGGAAC	0.582000														73			41		0	0	1	0	0
PLCG1	5335	broad.mit.edu	37	20	39788384	39788384	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:39788384C>T	uc002xjp.1	+	1	477	c.356C>T	c.(355-357)aCg>aTg	p.T119M	PLCG1_uc002xjo.1_Missense_Mutation_p.T119M	NM_182811	NP_877963	P19174	PLCG1_HUMAN	Homo sapiens phospholipase C, gamma 1 (PLCG1), transcript variant 2, mRNA.	119	PH 1.				T cell receptor signaling pathway|activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				CGCCTGAAAACGCTGAGCCTG	0.552000														39			25		0	0	1	0	0
C2orf78	388960	broad.mit.edu	37	2	74041293	74041293	+	Missense_Mutation	SNP	T	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:74041293T>A	uc002sjr.1	+	1	908	c.787T>A	c.(787-789)Tct>Act	p.S263T		NM_001080474	NP_001073943	A6NCI8	CB078_HUMAN	Homo sapiens chromosome 2 open reading frame 78 (C2orf78), mRNA.	263										cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						ACCACCAGTCTCTACTTCTGG	0.463000														102			15		0	0	1	0	0
ITPR3	3710	broad.mit.edu	37	6	33655082	33655082	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:33655082A>G	uc021ywr.1	+	44	6379	c.6155A>G	c.(6154-6156)aAc>aGc	p.N2052S		NM_002224	NP_002215	Q14573	ITPR3_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 3 (ITPR3), mRNA.	2052					G-protein coupled receptor protein signaling pathway|activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						GTGGGCCATAACATCTATATC	0.622000														14			7		0	0	1	0	0
PPFIA4	8497	broad.mit.edu	37	1	203029425	203029425	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:203029425G>A	uc009xaj.3	+	26	3039	c.3039G>A	c.(3037-3039)tcG>tcA	p.S1013S	PPFIA4_uc010pqf.2_Silent_p.S595S|PPFIA4_uc001gyz.3_Silent_p.S382S|PPFIA4_uc001gza.3_Silent_p.S382S|PPFIA4_uc001gzb.1_Silent_p.S77S			O75335	LIPA4_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4 (PPFIA4), mRNA.	382					cell communication	cell surface|cytoplasm	protein binding	p.S1021S(1)		NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						CCGCTCTGTCGGACACAGAGA	0.632000														42			29		0	0	1	0	0
KIAA1191	57179	broad.mit.edu	37	5	175775000	175775000	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:175775000T>C	uc003mdw.3	-	7	1005	c.633A>G	c.(631-633)ggA>ggG	p.G211G	KIAA1191_uc003mdx.3_Silent_p.G192G|KIAA1191_uc003mdy.3_Silent_p.G211G|KIAA1191_uc003mea.3_Silent_p.G4G|KIAA1191_uc003mdz.3_Non-coding_Transcript	NM_020444	NP_001073152	Q96A73	K1191_HUMAN	Homo sapiens KIAA1191 (KIAA1191), transcript variant 1, mRNA.	211							protein binding			endometrium(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6	all_cancers(89;0.00575)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.101)		TATCCCCACTTCCAGAGTCCA	0.463000														88			6		0	0	1	0	0
TH	7054	broad.mit.edu	37	11	2185527	2185527	+	Missense_Mutation	SNP	C	T	T	rs78426052		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:2185527C>T	uc001lvq.3	-	13	1542	c.1523G>A	c.(1522-1524)cGc>cAc	p.R508H	TH_uc001lvp.3_Missense_Mutation_p.R504H|TH_uc001lvr.3_Missense_Mutation_p.R477H|TH_uc010qxj.2_Missense_Mutation_p.R481H|TH_uc001lvs.3_Missense_Mutation_p.R383H|TH_uc001lvt.3_Missense_Mutation_p.R387H	NM_199292	NP_954986	P07101	TY3H_HUMAN	Homo sapiens tyrosine hydroxylase (TH), transcript variant 1, mRNA.	508					dopamine biosynthetic process from tyrosine|embryonic camera-type eye morphogenesis|epinephrine biosynthetic process|eye photoreceptor cell development|heart morphogenesis|hormone biosynthetic process|learning|locomotory behavior|memory|neurotransmitter biosynthetic process|neurotransmitter secretion|norepinephrine biosynthetic process|pigmentation|regulation of heart contraction|response to ethanol|response to hypoxia|synaptic transmission, dopaminergic|visual perception	cytosol|internal side of plasma membrane|melanosome membrane|nucleus|perikaryon|smooth endoplasmic reticulum	protein binding|tyrosine 3-monooxygenase activity	p.R508S(1)		NS(1)|endometrium(1)|large_intestine(1)|lung(7)|skin(1)	11		all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)	CTCCAGGGAGCGCCGCACGGC	0.672000														18			26		0	0	1	0	0
TSPAN10	83882	broad.mit.edu	37	17	79612540	79612540	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:79612540C>T	uc010die.3	+	1	665	c.559C>T	c.(559-561)Cgt>Tgt	p.R187C	TSPAN10_uc021ufc.1_Missense_Mutation_p.R225C|TSPAN10_uc002kaw.2_Missense_Mutation_p.R187C|TSPAN10_uc010did.2_Non-coding_Transcript	NM_031945	NP_114151	Q9H1Z9	TSN10_HUMAN	Homo sapiens tetraspanin 10 (TSPAN10), mRNA.	187			R -> H (in dbSNP:rs34896443).			integral to membrane				ovary(1)	1	all_neural(118;0.0878)|all_lung(278;0.175)|Lung NSC(278;0.192)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			GCACACCCTGCGTGTGGCCAT	0.687000														2			3		0	0	1	0	0
ZNF292	23036	broad.mit.edu	37	6	87970632	87970632	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:87970632C>T	uc003plm.4	+	7	7326	c.7285C>T	c.(7285-7287)Cgg>Tgg	p.R2429W		NM_015021	NP_055836	O60281	ZN292_HUMAN	Homo sapiens zinc finger protein 292 (ZNF292), mRNA.	2429					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		TGTATTCAAACGGTGTTGCAA	0.348000														13			8		0	0	1	0	0
GNAZ	2781	broad.mit.edu	37	22	23465441	23465441	+	Silent	SNP	C	T	T	rs146853897	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:23465441C>T	uc002zwu.1	+	2	1428	c.891C>T	c.(889-891)taC>taT	p.Y297Y	RTDR1_uc002zwt.3_Intron	NM_002073	NP_002064	P19086	GNAZ_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), alpha z polypeptide (GNAZ), mRNA.	297						endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity			endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1)	19	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)		AGAACACGTACGAGGAGGCCG	0.572000														26			13		0	0	1	0	0
CD99L2	83692	broad.mit.edu	37	X	149945940	149945940	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:149945940C>A	uc004fek.3	-	7	752	c.524G>T	c.(523-525)gGc>gTc	p.G175V	CD99L2_uc011myb.2_Missense_Mutation_p.G98V|CD99L2_uc004feo.3_Non-coding_Transcript|CD99L2_uc004fel.3_Missense_Mutation_p.G171V|CD99L2_uc004fem.3_Missense_Mutation_p.G122V|CD99L2_uc004fen.3_Missense_Mutation_p.G99V	NM_001242614	NP_001229543	Q8TCZ2	C99L2_HUMAN	Homo sapiens CD99 molecule-like 2 (CD99L2), transcript variant 5, mRNA.	171					cell adhesion	cell junction|integral to membrane				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					GTCATTGCTGCCGTACCGGCC	0.557000														41			26		4.87955e-14	6.09581e-14	1	1	0
GPR162	27239	broad.mit.edu	37	12	6933544	6933544	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:6933544C>T	uc001qqw.1	+	1	1015	c.480C>T	c.(478-480)ggC>ggT	p.G160G	GPR162_uc010sfn.1_Silent_p.G160G|GPR162_uc001qqx.1_Intron|GPR162_uc009zfd.1_Intron|GPR162_uc001qqy.1_5'Flank	NM_019858	NP_062832	Q16538	GP162_HUMAN	Homo sapiens G protein-coupled receptor 162 (GPR162), transcript variant A-2, mRNA.	160						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1)	18						ACAACAACGGCGAGCGCTACT	0.577000														17			11		0	0	1	0	0
NR3C1	2908	broad.mit.edu	37	5	142780045	142780045	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:142780045C>T	uc003lnd.3	-	1	1354	c.360G>A	c.(358-360)aaG>aaA	p.K120K	NR3C1_uc003lmy.3_Silent_p.K120K|NR3C1_uc003lmz.3_5'UTR|NR3C1_uc003lna.3_Silent_p.K120K|NR3C1_uc003lnb.3_Silent_p.K120K|NR3C1_uc011dbk.2_Intron|NR3C1_uc003lnf.3_Silent_p.K120K|NR3C1_uc003lne.3_Silent_p.K120K|NR3C1_uc003lnc.3_Silent_p.K120K|NR3C1_uc021yfa.1_Silent_p.K120K|NR3C1_uc021yfb.1_Silent_p.K120K|NR3C1_uc003lng.2_Silent_p.K120K|NR3C1_uc003lni.2_Silent_p.K120K	NM_001018077	NP_001191193	P04150	GCR_HUMAN	Homo sapiens nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor) (NR3C1), transcript variant 5, mRNA.	120	Modulating.				chromatin modification|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus|transcription from RNA polymerase II promoter	mitochondrial matrix|nucleoplasm	glucocorticoid receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding	p.L119V(1)		breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	35		Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		Amcinonide(DB00288)|Betamethasone(DB00443)|Budesonide(DB01222)|Dexamethasone(DB01234)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluticasone Propionate(DB00588)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Prednisone(DB00635)	CTTCCAAAAGCTTTAAGTCTG	0.498000														83			54		0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103138684	103138684	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:103138684G>A	uc022ajr.1	-	53	8843	c.8683C>T	c.(8683-8685)Cgc>Tgc	p.R2895C	RELN_uc022ajq.1_Missense_Mutation_p.R2895C|RELN_uc010liz.3_Missense_Mutation_p.R2895C	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	2895					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CTGTCAAAGCGTTCCTTCAGG	0.378000														77			9		0	0	1	0	0
IZUMO1	284359	broad.mit.edu	37	19	49249026	49249026	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:49249026G>T	uc002pkj.3	-	1	639	c.91C>A	c.(91-93)Ctg>Atg	p.L31M	IZUMO1_uc010eme.3_Non-coding_Transcript|IZUMO1_uc010emf.3_Non-coding_Transcript	NM_182575	NP_872381	Q8IYV9	IZUM1_HUMAN	Homo sapiens izumo sperm-egg fusion 1 (IZUMO1), mRNA.	31					fusion of sperm to egg plasma membrane	integral to membrane				endometrium(4)|kidney(3)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	17		all_lung(116;0.000156)|Lung NSC(112;0.000251)|all_epithelial(76;0.000761)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)		TTTAGCGCCAGCACGACAGAC	0.572000														75			7		8.12818e-05	8.84769e-05	1	1	0
ZNF117	51351	broad.mit.edu	37	7	64441793	64441793	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:64441793C>T	uc003ttr.2	-	2	1291	c.6G>A	c.(4-6)aaG>aaA	p.K2K		NM_015852	NP_056936	Q03924	ZN117_HUMAN	Homo sapiens zinc finger protein 117 (ZNF117), mRNA.	2						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(1)|skin(1)	22		Lung NSC(55;0.0295)|all_lung(88;0.0691)				TCTCATGTCTCTTCATATTCC	0.403000														84			100		0	0	1	0	0
DSG1	1828	broad.mit.edu	37	18	28935225	28935225	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:28935225C>T	uc002kwp.3	+	14	3278	c.3066C>T	c.(3064-3066)caC>caT	p.H1022H	DSG1_uc010xbp.2_Silent_p.H381H	NM_001942	NP_001933	Q02413	DSG1_HUMAN	Homo sapiens desmoglein 1 (DSG1), mRNA.	1022					calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding	p.H1022H(2)		NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			CTGACCATCACTTTAACCAAA	0.542000														24			7		0	0	1	0	0
DUSP22	56940	broad.mit.edu	37	6	335150	335150	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:335150C>T	uc003msx.3	+	3	614	c.175C>T	c.(175-177)Cca>Tca	p.P59S	DUSP22_uc011dhn.1_Missense_Mutation_p.P59S|DUSP22_uc003msy.1_Missense_Mutation_p.P16S	NM_020185	NP_064570	Q9NRW4	DUS22_HUMAN	Homo sapiens dual specificity phosphatase 22 (DUSP22), mRNA.	59					apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2)	26	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)		AGCGGATTCACCATCTCAAAA	0.323000														45			7		0	0	1	0	0
HDAC6	10013	broad.mit.edu	37	X	48663861	48663861	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:48663861G>A	uc011mmi.1	+	4	423	c.328G>A	c.(328-330)Gag>Aag	p.E110K	HDAC6_uc004dkr.1_Missense_Mutation_p.E110K|HDAC6_uc004dks.1_Missense_Mutation_p.E110K|HDAC6_uc010nig.1_5'UTR|HDAC6_uc004dkt.1_Missense_Mutation_p.E110K|HDAC6_uc004dku.4_Missense_Mutation_p.E110K|HDAC6_uc011mmj.1_Missense_Mutation_p.E55K|HDAC6_uc011mmk.1_Missense_Mutation_p.E91K	NM_006044	NP_006035	Q9UBN7	HDAC6_HUMAN	Homo sapiens histone deacetylase 6 (HDAC6), mRNA.	110	Histone deacetylase 1.				Hsp90 deacetylation|aggresome assembly|cellular response to hydrogen peroxide|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation	aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm	Hsp90 protein binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|microtubule binding|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	GGAAGGCCCTGAGCGGCTCCA	0.592000														15			10		0	0	1	0	0
SRRD	402055	broad.mit.edu	37	22	26884027	26884027	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:26884027G>A	uc010gve.3	+	2	290	c.283G>A	c.(283-285)Gaa>Aaa	p.E95K	SRRD_uc003acp.4_Missense_Mutation_p.E88K	NM_001013694	NP_001013716	Q9UH36	SRR1L_HUMAN	Homo sapiens SRR1 domain containing (SRRD), mRNA.	95					rhythmic process					endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	4						AAAACATCTGGAACAACTGAA	0.478000														11			16		0	0	1	0	0
RECK	8434	broad.mit.edu	37	9	36109991	36109991	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:36109991T>C	uc003zyv.3	+	14	1889	c.1803T>C	c.(1801-1803)tgT>tgC	p.C601C	RECK_uc003zyw.3_Silent_p.C473C|RECK_uc003zyx.3_Non-coding_Transcript	NM_021111	NP_066934	O95980	RECK_HUMAN	Homo sapiens reversion-inducing-cysteine-rich protein with kazal motifs (RECK), mRNA.	601						anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane	metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			GCAATGTCTGTTCTTGTTTTG	0.438000														96			76		0	0	1	0	0
UHRF1BP1	54887	broad.mit.edu	37	6	34831966	34831966	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:34831966T>G	uc003oju.4	+	14	3637	c.3403T>G	c.(3403-3405)Ttg>Gtg	p.L1135V	UHRF1BP1_uc010jvm.2_Non-coding_Transcript|UHRF1BP1_uc010jvn.3_Non-coding_Transcript|UHRF1BP1_uc010jvo.3_Intron	NM_017754	NP_060224	Q6BDS2	URFB1_HUMAN	Homo sapiens UHRF1 binding protein 1 (UHRF1BP1), mRNA.	1135										breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						TGTGATGCTCTTGGAGTCTGG	0.507000														69			5		0	0	1	0	0
CEP350	9857	broad.mit.edu	37	1	180056829	180056829	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:180056829C>T	uc001gnt.3	+	31	6785	c.6402C>T	c.(6400-6402)atC>atT	p.I2134I	CEP350_uc009wxl.2_Silent_p.I2133I|CEP350_uc001gnv.3_Silent_p.I269I|CEP350_uc001gnw.1_5'UTR	NM_014810	NP_055625	Q5VT06	CE350_HUMAN	Homo sapiens centrosomal protein 350kDa (CEP350), mRNA.	2134						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						AACCCAAGATCAAACCCCTCA	0.393000														5			4		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9024862	9024862	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9024862G>A	uc002mkp.3	-	15	37204	c.37000C>T	c.(37000-37002)Ccc>Tcc	p.P12334S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	12336	SEA 2.				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						AGGGTGTAGGGGCCCAGCTCT	0.532000														80			70		0	0	1	0	0
ITGB7	3695	broad.mit.edu	37	12	53587619	53587619	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:53587619C>T	uc009zmv.3	-	9	1446	c.1375G>A	c.(1375-1377)Gcc>Acc	p.A459T	ITGB7_uc001scc.3_Missense_Mutation_p.A459T|ITGB7_uc010snz.2_Intron	NM_000889	NP_000880	P26010	ITB7_HUMAN	Homo sapiens integrin, beta 7 (ITGB7), mRNA.	459					cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|regulation of immune response	integrin complex	identical protein binding|metal ion binding|receptor activity			NS(2)|breast(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						AAGCCAAGGGCCCGGAGCCTC	0.582000														42			29		0	0	1	0	0
WDR64	128025	broad.mit.edu	37	1	241904950	241904950	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:241904950C>A	uc001hzg.2	+	10	1631	c.1424C>A	c.(1423-1425)tCt>tAt	p.S475Y	WDR64_uc021plh.1_Missense_Mutation_p.S269Y|WDR64_uc021pli.1_Missense_Mutation_p.S195Y	NM_144625	NP_653226	B1ANS9	WDR64_HUMAN	Homo sapiens WD repeat domain 64 (WDR64), mRNA.	475										breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			ACTATCTGCTCTGAATCCATA	0.318000														26			10		2.17888e-05	2.40634e-05	1	1	0
TGFBRAP1	9392	broad.mit.edu	37	2	105889457	105889457	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:105889457G>A	uc002tcq.3	-	9	1911	c.1827C>T	c.(1825-1827)caC>caT	p.H609H	TGFBRAP1_uc010fjc.3_Silent_p.H378H|TGFBRAP1_uc002tcr.4_Silent_p.H609H	NM_004257	NP_004248	Q8WUH2	TGFA1_HUMAN	Homo sapiens transforming growth factor, beta receptor associated protein 1 (TGFBRAP1), transcript variant 1, mRNA.	609					regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding			central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						CTAAGTGGGTGTGATACTCTT	0.592000														54			7		0	0	1	0	0
ITPKC	80271	broad.mit.edu	37	19	41223253	41223253	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:41223253T>C	uc002oot.3	+	0	246	c.213T>C	c.(211-213)ccT>ccC	p.P71P	ADCK4_uc002ooq.2_5'Flank|ADCK4_uc002oor.2_5'Flank|ADCK4_uc002oos.2_5'Flank	NM_025194	NP_079470	Q96DU7	IP3KC_HUMAN	Homo sapiens inositol-trisphosphate 3-kinase C (ITPKC), mRNA.	71						cytoplasm|nucleus	ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	14			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			ACAGCGAGCCTGAGAGGGCCG	0.756000														9			5		0	0	1	0	0
TRIM29	23650	broad.mit.edu	37	11	119998223	119998223	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:119998223G>A	uc001pwz.3	-	2	1079	c.955C>T	c.(955-957)Cgg>Tgg	p.R319W	TRIM29_uc010rzi.2_Missense_Mutation_p.R58W|TRIM29_uc010rzj.2_Missense_Mutation_p.R52W|TRIM29_uc001pxa.3_Non-coding_Transcript	NM_012101	NP_036233	Q14134	TRI29_HUMAN	Homo sapiens tripartite motif containing 29 (TRIM29), mRNA.	319					transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		TCCAGGTCCCGCACCAGGTCC	0.567000														82			6		0	0	1	0	0
ATP2B3	492	broad.mit.edu	37	X	152827665	152827665	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:152827665C>A	uc004fht.1	+	17	3250	c.3124C>A	c.(3124-3126)Ctg>Atg	p.L1042M	ATP2B3_uc004fhs.1_Missense_Mutation_p.L1042M|ATP2B3_uc010nuf.1_Missense_Mutation_p.L65M|ATP2B3_uc004fhu.1_5'UTR	NM_001001344	NP_001001344	Q16720	AT2B3_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 3 (ATP2B3), transcript variant 2, mRNA.	1042					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding	p.C1041Y(1)		NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCTCTGGTGCCTGTTTGTTGG	0.587000														80			68		2.18329e-32	2.88559e-32	1	1	0
MAP3K9	4293	broad.mit.edu	37	14	71199843	71199843	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:71199843C>T	uc001xmm.3	-	10	2243	c.2243G>A	c.(2242-2244)cGc>cAc	p.R748H	MAP3K9_uc010ttk.2_Missense_Mutation_p.R476H|MAP3K9_uc001xmk.3_Missense_Mutation_p.R481H|MAP3K9_uc001xml.3_Missense_Mutation_p.R762H	NM_033141	NP_149132	P80192	M3K9_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 9 (MAP3K9), mRNA.	748					activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		CACCTCGCAGCGGCGGTGGTG	0.652000														45			6		0	0	1	0	0
CD36	948	broad.mit.edu	37	7	80276087	80276087	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:80276087G>A	uc003uhc.3	+	5	715	c.31G>A	c.(31-33)Gct>Act	p.A11T	CD36_uc011kgv.2_Intron|CD36_uc003uhd.4_Missense_Mutation_p.A11T|CD36_uc003uhe.4_Missense_Mutation_p.A11T|CD36_uc003uhf.4_Missense_Mutation_p.A11T|CD36_uc003uhg.4_Missense_Mutation_p.A11T|CD36_uc003uhh.4_Missense_Mutation_p.A11T|CD36_uc022agu.1_Missense_Mutation_p.A11T|CD36_uc022agv.1_Missense_Mutation_p.A11T	NM_001127444	NP_001120916	P16671	CD36_HUMAN	Homo sapiens CD36 molecule (thrombospondin receptor) (CD36), transcript variant 5, mRNA.	11					cGMP-mediated signaling|cell adhesion|cholesterol transport|lipid metabolic process|lipid storage|lipoprotein transport|low-density lipoprotein particle clearance|nitric oxide mediated signal transduction|plasma membrane long-chain fatty acid transport|platelet activation|platelet degranulation|positive regulation of cell-matrix adhesion|positive regulation of macrophage derived foam cell differentiation	integral to plasma membrane|membrane fraction|platelet alpha granule membrane	lipid binding|low-density lipoprotein receptor activity|thrombospondin receptor activity|transforming growth factor beta binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|large_intestine(1)|lung(6)|ovary(1)	21						TGGGCTCATCGCTGGGGCTGT	0.453000														52			73		0	0	1	0	0
PKD1L2	114780	broad.mit.edu	37	16	81161375	81161375	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:81161375C>A	uc002fgh.1	-	37	6335	c.6335G>T	c.(6334-6336)aGc>aTc	p.S2112I	PKD1L2_uc002fgf.1_5'UTR|PKD1L2_uc002fgg.1_Non-coding_Transcript	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	Homo sapiens polycystic kidney disease 1-like 2 (PKD1L2), transcript variant 1, mRNA.	2114					neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						CCTTGACGTGCTTTGGCGATC	0.517000														28			3		0.115264	0.116841	1	1	0
REG4	83998	broad.mit.edu	37	1	120337242	120337242	+	Nonstop_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:120337242T>C	uc001eig.3	-	6	916	c.476A>G	c.(475-477)tAg>tGg	p.*159W	REG4_uc001eif.3_Nonstop_Mutation_p.*159W	NM_001159352	NP_114433	Q9BYZ8	REG4_HUMAN	Homo sapiens regenerating islet-derived family, member 4 (REG4), transcript variant 1, mRNA.	0						extracellular region	sugar binding			central_nervous_system(1)|large_intestine(1)|lung(8)|ovary(2)|prostate(1)|skin(2)	15	all_cancers(5;4.81e-10)|all_epithelial(5;7.98e-11)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;8.1e-07)|Lung NSC(69;5.89e-06)|all_epithelial(167;0.000959)		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0588)		ATTCTTGCTCTATGGTCGGTA	0.438000														153			134		0	0	1	0	0
ATP2C2	9914	broad.mit.edu	37	16	84472889	84472889	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:84472889G>A	uc010chj.3	+	11	1193	c.1104G>A	c.(1102-1104)gaG>gaA	p.E368E	ATP2C2_uc002fhx.3_Silent_p.E368E|ATP2C2_uc002fhy.3_Silent_p.E385E|ATP2C2_uc002fhz.3_Silent_p.E217E	NM_014861	NP_055676	O75185	AT2C2_HUMAN	Homo sapiens ATPase, Ca++ transporting, type 2C, member 2 (ATP2C2), mRNA.	368					ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						CCATCGTGGAGACTTTAGGTG	0.572000														32			28		0	0	1	0	0
USP34	9736	broad.mit.edu	37	2	61441453	61441453	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:61441453G>T	uc002sbe.3	-	67	8446	c.8424C>A	c.(8422-8424)gtC>gtA	p.V2808V		NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	Homo sapiens ubiquitin specific peptidase 34 (USP34), mRNA.	2808					Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.V2808F(1)		autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			AGTCAGCACAGACATTGTACC	0.413000														190			9		5.4927e-09	6.49148e-09	1	1	0
CDK19	23097	broad.mit.edu	37	6	110991745	110991745	+	Splice_Site	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:110991745C>A	uc003puh.1	-	3	278	c.205_splice	c.e3-1	p.L69_splice	CDK19_uc003pui.1_Splice_Site_p.L9_splice	NM_015076	NP_055891	Q9BWU1	CDK19_HUMAN	Homo sapiens cyclin-dependent kinase 19 (CDK19), mRNA.	69	Protein kinase.						ATP binding|cyclin-dependent protein kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)	22						CTCGCAAAAGCTGAATGCAAA	0.413000														14			11		4.68919e-08	5.46558e-08	1	1	0
CHEK1	1111	broad.mit.edu	37	11	125503111	125503111	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:125503111C>T	uc009zbo.3	+	5	1375	c.478C>T	c.(478-480)Cgt>Tgt	p.R160C	CHEK1_uc010sbi.2_Missense_Mutation_p.R160C|CHEK1_uc010sbh.2_Missense_Mutation_p.R176C|CHEK1_uc001qcf.4_Missense_Mutation_p.R160C|CHEK1_uc009zbp.3_Missense_Mutation_p.R160C|CHEK1_uc001qcg.4_Missense_Mutation_p.R160C	NM_001114122	NP_001107594	O14757	CHK1_HUMAN	Homo sapiens checkpoint kinase 1 (CHEK1), transcript variant 1, mRNA.	160	Protein kinase.				DNA repair|DNA replication|cellular response to mechanical stimulus|gamete generation|negative regulation of cell proliferation|reciprocal meiotic recombination|regulation of cyclin-dependent protein kinase activity|replicative senescence	condensed nuclear chromosome|microtubule organizing center|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity	p.R160H(1)		central_nervous_system(3)|endometrium(3)|large_intestine(2)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	26	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0748)		GTATAATAATCGTGAGCGTTT	0.358000								Other conserved DNA damage response genes						56			50		0	0	1	0	0
POM121C	100101267	broad.mit.edu	37	7	75051127	75051127	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:75051127A>G	uc003udk.4	-	12	3293	c.2408T>C	c.(2407-2409)tTc>tCc	p.F803S		NM_001099415	NP_001092885	A8CG34	P121C_HUMAN	Homo sapiens POM121 membrane glycoprotein C (POM121C), mRNA.	1045	Pore side (Potential).|Thr-rich.				mRNA transport|protein transport|transmembrane transport	endoplasmic reticulum membrane|nuclear membrane|nuclear pore	protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						GGCTGCACCGAAGGAGAAGAC	0.657000														44			15		0	0	1	0	0
ABCA6	23460	broad.mit.edu	37	17	67081189	67081189	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:67081189G>A	uc002jhw.1	-	31	4339	c.4164C>T	c.(4162-4164)gaC>gaT	p.D1388D		NM_080284	NP_525023	Q8N139	ABCA6_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 6 (ABCA6), mRNA.	1388	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity	p.A1387V(1)|p.A1387A(1)|p.D1388H(1)		breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					CGAGCCTCGCGTCCGCTTTCC	0.552000														9			11		0	0	1	0	0
VAMP4	8674	broad.mit.edu	37	1	171707535	171707535	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:171707535C>T	uc001ghx.2	-	1	399	c.20G>A	c.(19-21)cGc>cAc	p.R7H	VAMP4_uc001ghw.2_Non-coding_Transcript|VAMP4_uc001ghy.2_Missense_Mutation_p.R7H	NM_003762	NP_003753	O75379	VAMP4_HUMAN	Homo sapiens vesicle-associated membrane protein 4 (VAMP4), transcript variant 1, mRNA.	7					vesicle-mediated transport	Golgi membrane|endosome|integral to membrane|lysosome				large_intestine(4)	4	all_cancers(6;1.42e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					ATTGAGGTGGCGCTTAAACTT	0.333000														40			30		0	0	1	0	0
IL3RA	3563	broad.mit.edu	37	X	1471117	1471117	+	Silent	SNP	C	T	T	rs142385163	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:1471117C>T	uc004cps.3	+	4	772	c.423C>T	c.(421-423)aaC>aaT	p.N141N	CRLF2_uc022brt.1_Intron|IL3RA_uc011mhd.2_Silent_p.N63N	NM_002183	NP_002174	P26951	IL3RA_HUMAN	Homo sapiens interleukin 3 receptor, alpha (low affinity) (IL3RA), mRNA.	141						integral to membrane|plasma membrane	interleukin-3 receptor activity			lung(1)|skin(2)	3		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	TGTACTTGAACGTTGCCAAGT	0.647000														51			21		0	0	1	0	0
GPR37	2861	broad.mit.edu	37	7	124404176	124404176	+	Silent	SNP	G	A	A	rs149674781	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:124404176G>A	uc003vli.3	-	0	1506	c.855C>T	c.(853-855)atC>atT	p.I285I		NM_005302	NP_005293	O15354	GPR37_HUMAN	Homo sapiens G protein-coupled receptor 37 (endothelin receptor type B-like) (GPR37), mRNA.	285						endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TGTGGCACACGATGCACATCA	0.572000														55			4		0	0	1	0	0
CD226	10666	broad.mit.edu	37	18	67563180	67563180	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:67563180C>T	uc010dqo.3	-	2	931	c.484G>A	c.(484-486)Gca>Aca	p.A162T	CD226_uc002lkm.4_Missense_Mutation_p.A162T|CD226_uc021uli.1_Missense_Mutation_p.A7T	NM_006566	NP_006557	Q15762	CD226_HUMAN	Homo sapiens CD226 molecule (CD226), mRNA.	162	Ig-like C2-type 2.				cell adhesion|cell recognition|positive regulation of Fc receptor mediated stimulatory signaling pathway|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	cell surface|integral to plasma membrane|membrane raft	cell adhesion molecule binding|integrin binding|protein kinase binding|receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	24		Esophageal squamous(42;0.129)				CACCTCACTGCCTGCACAGGC	0.488000														27			20		0	0	1	0	0
C16orf45	89927	broad.mit.edu	37	16	15680614	15680614	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:15680614G>A	uc002ddo.3	+	5	729	c.543G>A	c.(541-543)aaG>aaA	p.K181K	C16orf45_uc002ddp.3_Silent_p.K164K	NM_033201	NP_149978	Q96MC5	CP045_HUMAN	Homo sapiens chromosome 16 open reading frame 45 (C16orf45), transcript variant 1, mRNA.	181										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)	11						CACCTAGCAAGCCCACGGTGG	0.632000														8			6		0	0	1	0	0
VARS	7407	broad.mit.edu	37	6	31760029	31760029	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31760029G>A	uc003nxe.3	-	5	1259	c.836C>T	c.(835-837)aCc>aTc	p.T279I	VARS_uc011doi.1_Non-coding_Transcript	NM_006295	NP_006286	P26640	SYVC_HUMAN	Homo sapiens valyl-tRNA synthetase (VARS), nuclear gene encoding mitochondrial protein, mRNA.	279					translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	GAGGTCATAGGTAATGACCCC	0.552000														40			27		0	0	1	0	0
PKDREJ	10343	broad.mit.edu	37	22	46655314	46655314	+	Silent	SNP	G	A	A	rs150338973	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:46655314G>A	uc003bhh.3	-	0	3906	c.3906C>T	c.(3904-3906)aaC>aaT	p.N1302N		NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN	Homo sapiens polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin) (PKDREJ), mRNA.	1302	PLAT.				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity	p.N1302S(1)		NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		ATCGACCCTCGTTGTTGTGCC	0.453000														47			36		0	0	1	0	0
CLRN1	7401	broad.mit.edu	37	3	150659373	150659373	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:150659373A>G	uc021xfs.1	-	1	720	c.429T>C	c.(427-429)atT>atC	p.I143I	CLRN1-AS1_uc011bny.1_Intron|CLRN1_uc021xfq.1_Non-coding_Transcript|CLRN1_uc021xfr.1_5'UTR|CLRN1_uc003eyj.3_Silent_p.I67I|CLRN1_uc003eyk.1_Silent_p.I143I|CLRN1_uc021xft.1_Non-coding_Transcript	NM_001195794	NP_001182723	P58418	CLRN1_HUMAN	Homo sapiens clarin 1 (CLRN1), transcript variant 5, mRNA.	143					equilibrioception|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	integral to membrane				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)	14			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			ACTTACCTGAAATGAAGCTCA	0.363000														26			10		0	0	1	0	0
VPS25	84313	broad.mit.edu	37	17	40928262	40928262	+	Splice_Site	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:40928262G>T	uc002ibi.3	+	5	383	c.343_splice	c.e5-1	p.V115_splice		NM_032353	NP_115729	Q9BRG1	VPS25_HUMAN	Homo sapiens vacuolar protein sorting 25 homolog (S. cerevisiae) (VPS25), mRNA.	115					cellular membrane organization|endosome transport|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endosome membrane|nucleoplasm				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)	5		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0745)		TGTATTCACAGGTTTCCAGGA	0.463000														42			4		1.23904e-05	1.3743e-05	1	1	0
DCAF6	55827	broad.mit.edu	37	1	167962634	167962634	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:167962634G>A	uc001gew.3	+	6	1212	c.859G>A	c.(859-861)Gca>Aca	p.A287T	DCAF6_uc001gex.3_Missense_Mutation_p.A287T|DCAF6_uc010plk.2_Missense_Mutation_p.A256T|DCAF6_uc001gev.3_Missense_Mutation_p.A287T|DCAF6_uc001gey.3_Missense_Mutation_p.A140T	NM_001017977	NP_001017977	Q58WW2	DCAF6_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 6 (DCAF6), transcript variant 2, mRNA.	287					positive regulation of transcription from RNA polymerase II promoter	CUL4 RING ubiquitin ligase complex|nucleus	ligand-dependent nuclear receptor transcription coactivator activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						AGATGATACAGCACGAGAACT	0.448000														74			5		0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152712526	152712526	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:152712526C>A	uc021zhb.1	-	49	8113	c.7890G>T	c.(7888-7890)gaG>gaT	p.E2630D	SYNE1_uc003qot.4_Missense_Mutation_p.E2637D|SYNE1_uc003qou.4_Missense_Mutation_p.E2630D|SYNE1_uc010kjb.1_Missense_Mutation_p.E2613D	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	2630					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	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)		GCAGTGCTTCCTCCAGGGCTT	0.562000										HNSCC(10;0.0054)				23			20		9.7654e-05	0.000106285	1	1	0
IQSEC1	9922	broad.mit.edu	37	3	12954952	12954952	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:12954952G>T	uc003bxt.2	-	8	2343	c.2334C>A	c.(2332-2334)atC>atA	p.I778I	IQSEC1_uc003bxu.3_Silent_p.I656I|IQSEC1_uc011auw.1_Silent_p.I764I	NM_014869	NP_055684	Q6DN90	IQEC1_HUMAN	Homo sapiens IQ motif and Sec7 domain 1 (IQSEC1), transcript variant 2, mRNA.	778	PH.				regulation of ARF protein signal transduction	cytoplasm|nucleus	ARF guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TGAACAGGAAGATTTCTCGCT	0.577000														13			3		6.4e-05	6.99953e-05	1	1	0
ZNF229	7772	broad.mit.edu	37	19	44933440	44933440	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:44933440C>T	uc002oze.1	-	5	1950	c.1516G>A	c.(1516-1518)Gct>Act	p.A506T	ZNF229_uc010ejk.1_Missense_Mutation_p.A160T|ZNF229_uc010ejl.1_Missense_Mutation_p.A500T	NM_014518	NP_055333	Q9UJW7	ZN229_HUMAN	Homo sapiens zinc finger protein 229 (ZNF229), mRNA.	506					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				CTCTGGTGAGCTTGAAGGTAC	0.512000														68			39		0	0	1	0	0
B4GALNT2	124872	broad.mit.edu	37	17	47243584	47243584	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:47243584G>A	uc002ion.2	+	8	1302	c.1243G>A	c.(1243-1245)Gtg>Atg	p.V415M	B4GALNT2_uc010wlt.1_Missense_Mutation_p.V329M|B4GALNT2_uc010wlu.1_Missense_Mutation_p.V355M	NM_153446	NP_001152860	Q8NHY0	B4GN2_HUMAN	Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 2 (B4GALNT2), transcript variant 1, mRNA.	415					UDP-N-acetylgalactosamine metabolic process|lipid glycosylation|negative regulation of cell-cell adhesion	integral to Golgi membrane	acetylgalactosaminyltransferase activity	p.L414L(1)		endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24			all cancers(6;0.000316)			TGAGGTGCTGGTGGATGTCCT	0.512000														36			21		0	0	1	0	0
ARHGAP26	23092	broad.mit.edu	37	5	142500708	142500708	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:142500708A>G	uc011dbj.2	+	17	1729	c.1694A>G	c.(1693-1695)gAa>gGa	p.E565G	ARHGAP26_uc003lmt.3_Missense_Mutation_p.E565G|ARHGAP26_uc003lmw.3_Missense_Mutation_p.E565G	NM_015071	NP_055886	Q9UNA1	RHG26_HUMAN	Homo sapiens Rho GTPase activating protein 26 (ARHGAP26), transcript variant 1, mRNA.	565	Rho-GAP.				actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction	cytoskeleton|cytosol|focal adhesion	Rho GTPase activator activity|SH3 domain binding|cytoskeletal adaptor activity	p.E565K(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GAAAACCACGAAAAGGTAATA	0.423000														34			7		0	0	1	0	0
TSPAN17	26262	broad.mit.edu	37	5	176078862	176078862	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:176078862C>T	uc003met.3	+	2	475	c.246C>T	c.(244-246)tgC>tgT	p.C82C	TSPAN17_uc003mes.3_Intron|TSPAN17_uc003meu.3_Silent_p.C82C|TSPAN17_uc003mew.3_Silent_p.C82C	NM_012171	NP_036303	Q96FV3	TSN17_HUMAN	Homo sapiens tetraspanin 17 (TSPAN17), transcript variant 1, mRNA.	82						integral to membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|urinary_tract(1)	13	all_cancers(89;0.00141)|Renal(175;0.000269)|Lung NSC(126;0.00814)|all_lung(126;0.0133)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TTGCTGGCTGCATTGGGGCCC	0.582000														50			30		0	0	1	0	0
NAT9	26151	broad.mit.edu	37	17	72769101	72769101	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:72769101C>A	uc002jlq.3	-	3	342	c.268G>T	c.(268-270)Gat>Tat	p.D90Y	NAT9_uc002jlr.3_Missense_Mutation_p.D89Y	NM_015654	NP_056469	Q9BTE0	NAT9_HUMAN	Homo sapiens N-acetyltransferase 9 (GCN5-related, putative) (NAT9), mRNA.	90	N-acetyltransferase.					protein complex	N-acetyltransferase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)	8						AGGTTCACATCTCCCACCATG	0.567000														23			8		0.00307968	0.00322291	1	1	0
HSPA7	3311	broad.mit.edu	37	1	161576710	161576710	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:161576710G>A	uc010pkp.1	+	0	862	c.630G>A	c.(628-630)tcG>tcA	p.S210S						Homo sapiens heat shock 70kDa protein 7 (HSP70B) (HSPA7), non-coding RNA.																		TCGATGTGTCGGTTCTCTCCA	0.612000														37			12		0	0	1	0	0
ZNF841	284371	broad.mit.edu	37	19	52569224	52569224	+	Nonsense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:52569224G>T	uc010ydh.1	-	6	2371	c.1911C>A	c.(1909-1911)taC>taA	p.Y637*	ZNF841_uc002pyl.1_Nonsense_Mutation_p.Y521*	NM_001136499	NP_001129971	Q6ZN19	ZN841_HUMAN	Homo sapiens zinc finger protein 841 (ZNF841), mRNA.	521					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(3)|lung(3)	11						CTAGGCATGAGTAGTAACTGA	0.433000														143			13		3.27435e-08	3.82583e-08	1	1	0
NEK8	284086	broad.mit.edu	37	17	27061884	27061884	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:27061884G>A	uc002hcp.3	+	2	348	c.348G>A	c.(346-348)ctG>ctA	p.L116L		NM_178170	NP_835464	Q86SG6	NEK8_HUMAN	Homo sapiens NIMA (never in mitosis gene a)- related kinase 8 (NEK8), mRNA.	116	Protein kinase.					cytoplasm|primary cilium	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Lung NSC(42;0.0158)					TGCTTGCACTGCATCATGTGC	0.552000														78			44		0	0	1	0	0
LAMP3	27074	broad.mit.edu	37	3	182853553	182853553	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:182853553C>T	uc003flh.4	-	4	1293	c.1069G>A	c.(1069-1071)Gat>Aat	p.D357N		NM_014398	NP_055213	Q9UQV4	LAMP3_HUMAN	Homo sapiens lysosomal-associated membrane protein 3 (LAMP3), mRNA.	357					cell proliferation	integral to membrane|lysosomal membrane		p.D357N(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(2)	28	all_cancers(143;9.14e-14)|Ovarian(172;0.0355)		all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21)			AGTTGGACATCGGTTGTTTTC	0.488000														140			107		0	0	1	0	0
TMEM109	79073	broad.mit.edu	37	11	60689458	60689458	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:60689458C>T	uc001nqg.3	+	3	931	c.553C>T	c.(553-555)Cgg>Tgg	p.R185W	TMEM132A_uc001nqi.3_5'Flank|TMEM132A_uc001nqj.3_5'Flank	NM_024092	NP_076997	Q9BVC6	TM109_HUMAN	Homo sapiens transmembrane protein 109 (TMEM109), mRNA.	185						integral to membrane|nuclear outer membrane|sarcoplasmic reticulum membrane		p.R185W(2)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)	8						CCCTTCCACCCGGGCCCTGCT	0.672000														51			38		0	0	1	0	0
RAP2C	57826	broad.mit.edu	37	X	131351031	131351031	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:131351031G>A	uc004ewp.3	-	1	1050	c.266C>T	c.(265-267)tCt>tTt	p.S89F	AK095439_uc004ewr.1_5'Flank|RAP2C_uc004ewo.3_Missense_Mutation_p.S23F|RAP2C_uc010nrk.3_Non-coding_Transcript|RAP2C_uc004ewq.4_Missense_Mutation_p.S89F	NM_021183	NP_067006	Q9Y3L5	RAP2C_HUMAN	Homo sapiens RAP2C, member of RAS oncogene family (RAP2C), mRNA.	89					Rap protein signal transduction|negative regulation of cell migration|positive regulation of protein autophosphorylation|regulation of protein tyrosine kinase activity	recycling endosome membrane	GTP binding|GTPase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(2)	8	Acute lymphoblastic leukemia(192;0.000127)					TACCTGAAAAGACTGTTGATT	0.458000														66			37		0	0	1	0	0
TCHH	7062	broad.mit.edu	37	1	152080722	152080722	+	Silent	SNP	G	A	A	rs71585886		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:152080722G>A	uc009wne.1	-	2	5243	c.4971C>T	c.(4969-4971)cgC>cgT	p.R1657R	TCHH_uc001ezp.2_Silent_p.R1657R	NM_007113	NP_009044	Q07283	TRHY_HUMAN	Homo sapiens trichohyalin (TCHH), mRNA.	1657	23 X 26 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTGTTGTTCGCGCTCCTGGC	0.602000														92			8		0	0	1	0	0
SV2A	9900	broad.mit.edu	37	1	149877520	149877520	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:149877520C>T	uc001etg.3	-	11	2448	c.1957G>A	c.(1957-1959)Gct>Act	p.A653T	SV2A_uc009wlk.3_Missense_Mutation_p.A105T|SV2A_uc001eth.2_Missense_Mutation_p.A653T	NM_014849	NP_055664	Q7L0J3	SV2A_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2A (SV2A), mRNA.	653					neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	p.I652I(3)		breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	CAGAGCAGAGCGATCATGGCC	0.547000														80			29		0	0	1	0	0
CC2D1A	54862	broad.mit.edu	37	19	14034193	14034193	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:14034193G>A	uc002mxo.2	+	14	1988	c.1689G>A	c.(1687-1689)cgG>cgA	p.R563R	CC2D1A_uc002mxp.2_Silent_p.R563R|CC2D1A_uc010dzh.2_Silent_p.R132R|CC2D1A_uc002mxq.1_Silent_p.R208R	NM_017721	NP_060191	Q6P1N0	C2D1A_HUMAN	Homo sapiens coiled-coil and C2 domain containing 1A (CC2D1A), mRNA.	563					positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			TGGTCCAGCGGCCTGGCCCGG	0.682000														43			27		0	0	1	0	0
IQSEC2	23096	broad.mit.edu	37	X	53285038	53285038	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:53285038G>A	uc004dsd.3	-	2	1144	c.943C>T	c.(943-945)Cgc>Tgc	p.R315C	IQSEC2_uc004dsc.3_Missense_Mutation_p.R110C|IQSEC2_uc022bxf.1_Missense_Mutation_p.R78C	NM_001111125	NP_001104595	Q5JU85	IQEC2_HUMAN	Homo sapiens IQ motif and Sec7 domain 2 (IQSEC2), transcript variant 1, mRNA.	305					regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1)	29						GCCTTGGAGCGCTTTATCTCC	0.632000														17			14		0	0	1	0	0
TMC2	117532	broad.mit.edu	37	20	2577918	2577918	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:2577918T>C	uc002wgf.1	+	9	1213	c.1198T>C	c.(1198-1200)Tat>Cat	p.Y400H	TMC2_uc002wgg.1_Missense_Mutation_p.Y384H|TMC2_uc010zpw.1_Missense_Mutation_p.Y232H|TMC2_uc010zpx.1_Missense_Mutation_p.Y231H	NM_080751	NP_542789	Q8TDI7	TMC2_HUMAN	Homo sapiens transmembrane channel-like 2 (TMC2), mRNA.	400						integral to membrane				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						TGATAACAAATATGCATCCAT	0.512000														17			17		0	0	1	0	0
PHC1	1911	broad.mit.edu	37	12	9087028	9087028	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:9087028A>G	uc001qvd.3	+	9	2363	c.2207A>G	c.(2206-2208)cAc>cGc	p.H736R	PHC1_uc001qve.3_Missense_Mutation_p.H736R	NM_004426	NP_004417	P78364	PHC1_HUMAN	Homo sapiens polyhomeotic homolog 1 (Drosophila) (PHC1), mRNA.	736					multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|large_intestine(8)|liver(2)|lung(3)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	27						ATTCTCACCCACATCATTGAA	0.542000														41			5		0	0	1	0	0
SMOX	54498	broad.mit.edu	37	20	4163079	4163079	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:4163079A>G	uc002wkp.2	+	4	1154	c.953A>G	c.(952-954)gAg>gGg	p.E318G	SMOX_uc010zqo.1_Intron|SMOX_uc002wkk.1_Intron|SMOX_uc002wkl.1_Intron|SMOX_uc002wkm.1_Missense_Mutation_p.E318G|SMOX_uc002wkn.1_Intron|SMOX_uc002wko.1_Missense_Mutation_p.E318G	NM_175839	NP_787033	Q9NWM0	SMOX_HUMAN	Homo sapiens spermine oxidase (SMOX), transcript variant 1, mRNA.	318					polyamine biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	polyamine oxidase activity			breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(7)|lung(5)|skin(2)|urinary_tract(1)	26					Spermine(DB00127)	GTGGAGTGCGAGGACTGTGAG	0.632000														35			7		0	0	1	0	0
BOD1L1	259282	broad.mit.edu	37	4	13604564	13604564	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:13604564C>T	uc003gmz.1	-	9	4077	c.3960G>A	c.(3958-3960)gcG>gcA	p.A1320A	BOD1L1_uc010idr.1_Silent_p.A657A	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN	Homo sapiens biorientation of chromosomes in cell division 1-like (BOD1L), mRNA.	1320							DNA binding										CAGAGTGATCCGCAGGGGAGG	0.463000														54			21		0	0	1	0	0
NINL	22981	broad.mit.edu	37	20	25470565	25470565	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:25470565C>T	uc002wux.1	-	11	1616	c.1542G>A	c.(1540-1542)tcG>tcA	p.S514S	NINL_uc010gdn.1_Silent_p.S514S|NINL_uc010gdo.1_Silent_p.S297S	NM_025176	NP_079452	Q9Y2I6	NINL_HUMAN	Homo sapiens ninein-like (NINL), mRNA.	514					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						CCAGCCTCTCCGAATCCGAAA	0.577000														57			41		0	0	1	0	0
IPPK	64768	broad.mit.edu	37	9	95400540	95400540	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:95400540C>T	uc004asl.1	-	8	936	c.659G>A	c.(658-660)tGc>tAc	p.C220Y	IPPK_uc004ask.1_5'Flank	NM_022755	NP_073592	Q9H8X2	IPPK_HUMAN	Homo sapiens inositol 1,3,4,5,6-pentakisphosphate 2-kinase (IPPK), mRNA.	220					inositol or phosphatidylinositol phosphorylation	cytoplasm|nucleus	ATP binding|inositol pentakisphosphate 2-kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(2)|urinary_tract(1)	15						GGCATCTTTGCAGCCGTAAAT	0.567000														47			5		0	0	1	0	0
POP1	10940	broad.mit.edu	37	8	99168368	99168368	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:99168368G>A	uc003yij.4	+	14	2248	c.2148G>A	c.(2146-2148)gaG>gaA	p.E716E	POP1_uc011lgv.2_Silent_p.E716E|POP1_uc003yik.3_Silent_p.E716E	NM_001145860	NP_055844	Q99575	POP1_HUMAN	Homo sapiens processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae) (POP1), transcript variant 1, mRNA.	716					tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity			autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			AAGACTGGGAGTCAAGAGTCC	0.502000														62			36		0	0	1	0	0
CDC27	996	broad.mit.edu	37	17	45232100	45232100	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:45232100G>A	uc002ile.4	-	7	1022	c.895C>T	c.(895-897)Caa>Taa	p.Q299*	CDC27_uc002ild.4_Nonsense_Mutation_p.Q299*|CDC27_uc002ilf.4_Nonsense_Mutation_p.Q299*|CDC27_uc010wkp.2_Nonsense_Mutation_p.Q238*|CDC27_uc010wkq.1_Non-coding_Transcript	NM_001114091	NP_001107563	P30260	CDC27_HUMAN	Homo sapiens cell division cycle 27 homolog (S. cerevisiae) (CDC27), transcript variant 1, mRNA.	299					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						GTGTAGTTTTGTAAATAGGAT	0.388000														15			11		0	0	1	0	0
EHD1	10938	broad.mit.edu	37	11	64622267	64622267	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:64622267C>T	uc010rnq.1	-	5	1232	c.1185G>A	c.(1183-1185)acG>acA	p.T395T	EHD1_uc021qkz.1_Silent_p.T64T|EHD1_uc001obu.1_Silent_p.T381T|EHD1_uc001obv.1_Silent_p.T381T	NM_006795	NP_006786	Q9H4M9	EHD1_HUMAN	Homo sapiens EH-domain containing 1 (EHD1), mRNA.	381					blood coagulation|cholesterol homeostasis|endocytic recycling|intracellular protein transport|low-density lipoprotein particle clearance|positive regulation of cholesterol storage|protein homooligomerization	early endosome membrane|lipid particle|plasma membrane|platelet dense tubular network membrane|recycling endosome membrane	ATP binding|GTP binding|GTPase activity|calcium ion binding|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12						TGTCATCCACCGTGTCCAGCA	0.637000														276			15		0	0	1	0	0
PLEKHM1	9842	broad.mit.edu	37	17	43531164	43531164	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:43531164A>G	uc002ija.3	-	6	2224	c.2054T>C	c.(2053-2055)aTc>aCc	p.I685T	PLEKHM1_uc010wjm.2_Missense_Mutation_p.I657T|PLEKHM1_uc002ijb.3_Missense_Mutation_p.I160T|PLEKHM1_uc010wjn.1_Missense_Mutation_p.I634T|PLEKHM1_uc002ijc.3_Missense_Mutation_p.I139T	NM_014798	NP_055613	Q9Y4G2	PKHM1_HUMAN	Homo sapiens pleckstrin homology domain containing, family M (with RUN domain) member 1 (PLEKHM1), transcript variant 1, mRNA.	685	PH 2.				intracellular signal transduction	cytoplasm	metal ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26	Renal(3;0.0405)					GGACTCCTTGATGGCATCTGG	0.567000														47			26		0	0	1	0	0
CKM	1158	broad.mit.edu	37	19	45811737	45811737	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:45811737C>T	uc002pbd.3	-	5	880	c.707G>A	c.(706-708)cGg>cAg	p.R236Q		NM_001824	NP_001815	P06732	KCRM_HUMAN	Homo sapiens creatine kinase, muscle (CKM), mRNA.	236	Phosphagen kinase C-terminal.				creatine metabolic process	cytosol	ATP binding|creatine kinase activity			cervix(1)|endometrium(1)|large_intestine(8)|lung(3)|prostate(2)|skin(2)	17		Ovarian(192;0.0336)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;2.29e-44)|Epithelial(262;1.05e-38)|GBM - Glioblastoma multiforme(486;3.56e-07)	Creatine(DB00148)	GGAGATGACCCGGAGGTGATC	0.587000														35			22		0	0	1	0	0
EPG5	57724	broad.mit.edu	37	18	43524058	43524058	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:43524058G>T	uc002lbm.3	-	7	1805	c.1705C>A	c.(1705-1707)Ctc>Atc	p.L569I	EPG5_uc002lbo.1_Missense_Mutation_p.L569I	NM_020964	NP_066015	Q9HCE0	EPG5_HUMAN	Homo sapiens ectopic P-granules autophagy protein 5 homolog (C. elegans) (EPG5), mRNA.	569					autophagy					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						TCATTAAGGAGAATCCAACTG	0.393000														55			35		1.36161e-19	1.75324e-19	1	1	0
FBN2	2201	broad.mit.edu	37	5	127599171	127599171	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:127599171G>A	uc003kuu.3	-	62	8577	c.8138C>T	c.(8137-8139)aCg>aTg	p.T2713M		NM_001999	NP_001990	P35556	FBN2_HUMAN	Homo sapiens fibrillin 2 (FBN2), mRNA.	2713	EGF-like 47; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	p.T2713M(5)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GCCCCCCTCCGTGTTAGAGCA	0.587000														70			43		0	0	1	0	0
RAP2B	5912	broad.mit.edu	37	3	152880811	152880811	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:152880811C>T	uc003ezr.3	+	0	783	c.329C>T	c.(328-330)cCc>cTc	p.P110L		NM_002886	NP_002877	P61225	RAP2B_HUMAN	Homo sapiens RAP2B, member of RAS oncogene family (RAP2B), mRNA.	110					Rap protein signal transduction|regulation of protein tyrosine kinase activity	recycling endosome membrane	GTP binding|GTPase activity			NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			GAGCGCGTGCCCATGATCCTG	0.632000														32			18		0	0	1	0	0
NETO1	81832	broad.mit.edu	37	18	70417389	70417389	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:70417389C>T	uc002lkw.3	-	8	1733	c.1449G>A	c.(1447-1449)tcG>tcA	p.S483S	NETO1_uc002lky.2_Silent_p.S483S	NM_001201465	NP_001188394	Q8TDF5	NETO1_HUMAN	Homo sapiens neuropilin (NRP) and tolloid (TLL)-like 1 (NETO1), transcript variant 4, mRNA.	483					memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity	p.S483*(1)		NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		CAGCATCTTGCGAGTAGCTGT	0.502000														25			20		0	0	1	0	0
MED13L	23389	broad.mit.edu	37	12	116413074	116413074	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:116413074T>C	uc001tvw.3	-	24	5688	c.5633A>G	c.(5632-5634)aAg>aGg	p.K1878R		NM_015335	NP_056150	Q71F56	MD13L_HUMAN	Homo sapiens mediator complex subunit 13-like (MED13L), mRNA.	1878					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		CTCCCATAACTTCTGTAGTCC	0.463000														52			8		0	0	1	0	0
SFXN5	94097	broad.mit.edu	37	2	73172191	73172191	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:73172191G>A	uc002siq.3	-	13	1114	c.983C>T	c.(982-984)gCc>gTc	p.A328V	SFXN5_uc002sip.3_Non-coding_Transcript|SFXN5_uc002sio.3_Missense_Mutation_p.A220V|SFXN5_uc010yrc.2_Missense_Mutation_p.A177V|SFXN5_uc010fet.3_3'UTR|SFXN5_uc010fer.3_Non-coding_Transcript|SFXN5_uc010feq.3_Missense_Mutation_p.A110V|SFXN5_uc010fes.3_3'UTR	NM_144579	NP_653180	Q8TD22	SFXN5_HUMAN	Homo sapiens sideroflexin 5 (SFXN5), nuclear gene encoding mitochondrial protein, mRNA.	328					iron ion homeostasis	integral to membrane	cation transmembrane transporter activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)	9						GCTGCTCGTGGCCTGGGCTAT	0.612000														10			11		0	0	1	0	0
CNOT1	23019	broad.mit.edu	37	16	58585554	58585554	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:58585554G>T	uc002env.3	-	22	3433	c.3140C>A	c.(3139-3141)aCt>aAt	p.T1047N	CNOT1_uc002enw.3_Non-coding_Transcript|CNOT1_uc002enu.4_Missense_Mutation_p.T1042N|CNOT1_uc002enx.3_Missense_Mutation_p.T1047N|CNOT1_uc002enz.1_Missense_Mutation_p.T476N|CNOT1_uc010vik.2_Missense_Mutation_p.T43N	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 1 (CNOT1), transcript variant 1, mRNA.	1047					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		TTTAGCAACAGTGGTAGTTGT	0.473000														127			12		7.03913e-09	8.30711e-09	1	1	0
TNPO3	23534	broad.mit.edu	37	7	128641247	128641247	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:128641247C>T	uc010lly.2	-	5	1141	c.738G>A	c.(736-738)tcG>tcA	p.S246S	TNPO3_uc003vol.2_Silent_p.S246S|TNPO3_uc010llz.2_Silent_p.S246S|TNPO3_uc003vom.2_Silent_p.S180S	NM_012470	NP_036602	Q9Y5L0	TNPO3_HUMAN	Homo sapiens transportin 3 (TNPO3), transcript variant 1, mRNA.	246					splicing factor protein import into nucleus	cytoplasm|nucleus	protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						ATACACAGTCCGAAGCAGCTT	0.473000														170			62		0	0	1	0	0
C10orf140	387640	broad.mit.edu	37	10	21804300	21804300	+	Nonsense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:21804300C>A	uc009xkd.3	-	3	4705	c.2452G>T	c.(2452-2454)Gga>Tga	p.G818*	AK055656_uc001iqp.1_Intron|C10orf140_uc021pnx.1_Nonsense_Mutation_p.G818*	NM_207371	NP_997254	Q1XH10	DLN1_HUMAN	Homo sapiens chromosome 10 open reading frame 140 (C10orf140), mRNA.	737						nucleus	nucleotide binding			kidney(1)|large_intestine(8)|lung(9)|ovary(1)|soft_tissue(1)|urinary_tract(1)	21						TCCAGTGTTCCTTCATTTGTC	0.423000														116			11		3.86212e-05	4.23294e-05	1	1	0
FAM210A	125228	broad.mit.edu	37	18	13681863	13681863	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:13681863C>T	uc010dlh.3	-	2	646	c.214G>A	c.(214-216)Gat>Aat	p.D72N	FAM210A_uc010dlg.3_Missense_Mutation_p.D72N|FAM210A_uc010dli.3_Missense_Mutation_p.D72N|FAM210A_uc002ksj.4_Missense_Mutation_p.D72N|FAM210A_uc010dlj.3_Intron	NM_001098801	NP_689565	Q96ND0	CR019_HUMAN	Homo sapiens family with sequence similarity 210, member A (FAM210A), transcript variant 1, mRNA.	72						integral to membrane											GGATGAGCATCCAATGGCCTC	0.478000														70			46		0	0	1	0	0
AHSP	51327	broad.mit.edu	37	16	31539887	31539887	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:31539887G>A	uc002ecj.3	+	2	269	c.184G>A	c.(184-186)Gag>Aag	p.E62K		NM_016633	NP_057717	Q9NZD4	AHSP_HUMAN	Homo sapiens alpha hemoglobin stabilizing protein (AHSP), mRNA.	62					hemoglobin metabolic process|hemopoiesis|protein folding|protein stabilization	hemoglobin complex	hemoglobin binding|unfolded protein binding			lung(2)	2						GGAGCCCCAAGAGCGAGACAA	0.542000														31			21		0	0	1	0	0
IL31RA	133396	broad.mit.edu	37	5	55212718	55212718	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:55212718C>A	uc003jql.3	+	14	2257	c.2065C>A	c.(2065-2067)Ctc>Atc	p.L689I	IL31RA_uc003jqm.3_Intron|IL31RA_uc003jqn.3_Intron|IL31RA_uc021xyq.1_Missense_Mutation_p.L670I|IL31RA_uc003jqo.3_Missense_Mutation_p.L547I	NM_139017	NP_001229568	Q8NI17	IL31R_HUMAN	Homo sapiens interleukin 31 receptor A (IL31RA), transcript variant 1, mRNA.	657					JAK-STAT cascade|MAPKKK cascade|anti-apoptosis|defense response|homeostatic process|macrophage differentiation|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				TTTTGAGGAGCTCCCAGTTTC	0.527000														64			6		8.12818e-05	8.84769e-05	1	1	0
DAAM1	23002	broad.mit.edu	37	14	59835392	59835392	+	Missense_Mutation	SNP	C	T	T	rs138713289		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:59835392C>T	uc001xdz.1	+	25	3177	c.3052C>T	c.(3052-3054)Cgt>Tgt	p.R1018C	DAAM1_uc001xea.1_Missense_Mutation_p.R1008C|DAAM1_uc001xec.1_Non-coding_Transcript	NM_014992	NP_055807	Q9Y4D1	DAAM1_HUMAN	Homo sapiens dishevelled associated activator of morphogenesis 1 (DAAM1), mRNA.	1018					actin cytoskeleton organization	cytoplasm|plasma membrane	Rho GTPase binding|actin binding			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		TGAAAGGGAACGTAAAATGAG	0.378000														19			4		0	0	1	0	0
ZNF266	10781	broad.mit.edu	37	19	9524768	9524768	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9524768G>A	uc010dwq.3	-	8	2041	c.833C>T	c.(832-834)aCt>aTt	p.T278I	ZNF266_uc002mll.3_Missense_Mutation_p.T278I|ZNF266_uc002mlm.3_Missense_Mutation_p.T278I|ZNF266_uc002mln.3_Missense_Mutation_p.T278I|ZNF266_uc002mlo.3_Missense_Mutation_p.T278I	NM_198058	NP_932175	Q14584	ZN266_HUMAN	Homo sapiens zinc finger protein 266 (ZNF266), mRNA.	278					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(2)|large_intestine(11)|lung(8)|ovary(1)|skin(2)|stomach(1)	28						AGAGGAAACAGTGAAGGCTCT	0.423000														50			32		0	0	1	0	0
CCDC85A	114800	broad.mit.edu	37	2	56420564	56420564	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:56420564G>T	uc002rzn.3	+	1	1731	c.1229G>T	c.(1228-1230)aGt>aTt	p.S410I	CCDC85A_uc021vhw.1_Intron	NM_001080433	NP_001073902	Q96PX6	CC85A_HUMAN	Homo sapiens coiled-coil domain containing 85A (CCDC85A), mRNA.	410										breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			AATGTCTACAGTGGCATGAAC	0.592000														8			4		0.184627	0.186034	1	1	0
NUP133	55746	broad.mit.edu	37	1	229588289	229588289	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:229588289C>T	uc001htn.3	-	21	3174	c.3082G>A	c.(3082-3084)Gca>Aca	p.A1028T		NM_018230	NP_060700	Q8WUM0	NU133_HUMAN	Homo sapiens nucleoporin 133kDa (NUP133), mRNA.	1028					carbohydrate metabolic process|glucose transport|mRNA export from nucleus|mitotic prometaphase|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	Nup107-160 complex|condensed chromosome kinetochore|cytosol	nucleocytoplasmic transporter activity|protein binding			NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				AGTTGTGGTGCAGTCAATACT	0.448000														69			6		0	0	1	0	0
SEMA6A	57556	broad.mit.edu	37	5	115783357	115783357	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:115783357G>A	uc003krx.4	-	19	2805	c.2096C>T	c.(2095-2097)gCt>gTt	p.A699V	SEMA6A_uc010jck.3_Missense_Mutation_p.A682V|SEMA6A_uc011cwe.2_Missense_Mutation_p.A61V|SEMA6A_uc003krv.4_Missense_Mutation_p.A109V|SEMA6A_uc003krw.4_Missense_Mutation_p.A159V|SEMA6A_uc010jcj.3_Missense_Mutation_p.A226V	NM_020796	NP_065847	Q9H2E6	SEM6A_HUMAN	Homo sapiens sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A (SEMA6A), mRNA.	682					apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		CTGCACCACAGCCACGTCTTT	0.607000														32			23		0	0	1	0	0
OPN1SW	611	broad.mit.edu	37	7	128413872	128413872	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:128413872A>G	uc003vnt.4	-	3	758	c.758T>C	c.(757-759)gTg>gCg	p.V253A		NM_001708	NP_001699	P03999	OPSB_HUMAN	Homo sapiens opsin 1 (cone pigments), short-wave-sensitive (OPN1SW), mRNA.	253					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity			NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|stomach(1)	19						TCCTACCATCACAACCACCAT	0.577000														29			9		0	0	1	0	0
ATP10B	23120	broad.mit.edu	37	5	160076222	160076222	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:160076222C>T	uc003lym.1	-	7	1564	c.717G>A	c.(715-717)gtG>gtA	p.V239V	ATP10B_uc003lyp.2_Silent_p.V239V|ATP10B_uc011deg.1_Silent_p.V283V|ATP10B_uc003lyo.2_Silent_p.V211V	NM_025153	NP_079429	O94823	AT10B_HUMAN	Homo sapiens ATPase, class V, type 10B (ATP10B), mRNA.	239					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.V239M(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GTTTCTCACACACGATGGTAT	0.403000														66			8		0	0	1	0	0
LPCAT4	254531	broad.mit.edu	37	15	34652402	34652402	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:34652402C>A	uc001zig.3	-	11	1246	c.1152G>T	c.(1150-1152)aaG>aaT	p.K384N		NM_153613	NP_705841	Q643R3	LPCT4_HUMAN	Homo sapiens lysophosphatidylcholine acyltransferase 4 (LPCAT4), mRNA.	384					phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity|calcium ion binding			NS(1)|breast(1)|large_intestine(2)|lung(5)|prostate(1)	10						CCACCAAACCCTTGGTATCCT	0.552000														54			6		3.59834e-05	3.95114e-05	1	1	0
NLRP2	55655	broad.mit.edu	37	19	55508792	55508792	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:55508792C>A	uc021vbq.1	+	11	3098	c.2987C>A	c.(2986-2988)tCt>tAt	p.S996Y	NLRP2_uc010yfp.2_Missense_Mutation_p.S973Y|NLRP2_uc002qij.3_Missense_Mutation_p.S996Y|NLRP2_uc010esp.3_Missense_Mutation_p.S974Y|NLRP2_uc010esn.3_Missense_Mutation_p.S972Y|NLRP2_uc010eso.3_Missense_Mutation_p.S993Y	NM_001174081	NP_060322	Q9NX02	NALP2_HUMAN	Homo sapiens NLR family, pyrin domain containing 2 (NLRP2), transcript variant 2, mRNA.	996					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		CCCTTGGGGTCTAGTGGAGTG	0.537000														68			51		3.50607e-19	4.50874e-19	1	1	0
FAM171A1	221061	broad.mit.edu	37	10	15296864	15296864	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:15296864G>A	uc001iob.3	-	3	440	c.433C>T	c.(433-435)Cct>Tct	p.P145S		NM_001010924	NP_001010924	Q5VUB5	F1711_HUMAN	Homo sapiens family with sequence similarity 171, member A1 (FAM171A1), mRNA.	145						integral to membrane				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						TGAACGCGAGGCTGTGGCCGG	0.552000														10			9		0	0	1	0	0
NOLC1	9221	broad.mit.edu	37	10	103921327	103921327	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:103921327C>T	uc001kup.2	+	10	2021	c.1786C>T	c.(1786-1788)Cgg>Tgg	p.R596W	NOLC1_uc001kuo.2_Missense_Mutation_p.R586W|NOLC1_uc001kuq.2_Missense_Mutation_p.R587W|NOLC1_uc009xxb.1_Missense_Mutation_p.R305W|NOLC1_uc001kur.2_Missense_Mutation_p.R305W	NM_004741	NP_004732	Q14978	NOLC1_HUMAN	Homo sapiens nucleolar and coiled-body phosphoprotein 1 (NOLC1), mRNA.	586					mitosis|rRNA processing	cytoplasm|nucleolus	ATP binding|GTP binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	31		Colorectal(252;0.122)		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)		ATTAAAGAAGCGGAAGCAGAA	0.473000														10			9		0	0	1	0	0
KCTD3	51133	broad.mit.edu	37	1	215793456	215793456	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:215793456G>A	uc001hks.3	+	17	2238	c.1944G>A	c.(1942-1944)agG>agA	p.R648R	KCTD3_uc001hkt.3_Silent_p.R646R|KCTD3_uc010pub.2_Silent_p.R546R|KCTD3_uc009xdn.3_Silent_p.R372R	NM_016121	NP_057205	Q9Y597	KCTD3_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 3 (KCTD3), mRNA.	648						voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		GTTCCATGAGGCCTTACAGAG	0.403000														31			26		0	0	1	0	0
RRP12	23223	broad.mit.edu	37	10	99144989	99144989	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:99144989T>C	uc001knf.3	-	9	1281	c.1142A>G	c.(1141-1143)gAg>gGg	p.E381G	RRP12_uc009xvm.3_Missense_Mutation_p.E99G|RRP12_uc010qou.2_Missense_Mutation_p.E320G|RRP12_uc009xvn.3_Missense_Mutation_p.E281G	NM_015179	NP_055994	Q5JTH9	RRP12_HUMAN	Homo sapiens ribosomal RNA processing 12 homolog (S. cerevisiae) (RRP12), transcript variant 1, mRNA.	381						integral to membrane|nuclear membrane|nucleolus	protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		TAAATCATTCTCACTGGGAAC	0.527000														87			7		0	0	1	0	0
HERC1	8925	broad.mit.edu	37	15	63956725	63956725	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:63956725G>A	uc002amp.3	-	42	8772	c.8624C>T	c.(8623-8625)gCg>gTg	p.A2875V		NM_003922	NP_003913	Q15751	HERC1_HUMAN	Homo sapiens hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1 (HERC1), mRNA.	2875					protein modification process|transport	Golgi apparatus|cytosol|membrane	ARF guanyl-nucleotide exchange factor activity|acid-amino acid ligase activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						TCTTGTTACCGCTGAGCGACC	0.428000														42			7		0	0	1	0	0
CPXM2	119587	broad.mit.edu	37	10	125528127	125528127	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:125528127G>A	uc001lhk.1	-	8	1539	c.1214C>T	c.(1213-1215)gCg>gTg	p.A405V	CPXM2_uc001lhj.3_Non-coding_Transcript	NM_198148	NP_937791	Q8N436	CPXM2_HUMAN	Homo sapiens carboxypeptidase X (M14 family), member 2 (CPXM2), mRNA.	405					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		GACGATGCGCGCATTCCGGGC	0.647000														99			15		0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10210259	10210259	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:10210259C>T	uc002gmk.1	-	35	5382	c.5292G>A	c.(5290-5292)acG>acA	p.T1764T		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.	1764					muscle contraction	muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						AGCTCACATCCGTGATGGCCT	0.517000														37			27		0	0	1	0	0
BCL6	604	broad.mit.edu	37	3	187446838	187446838	+	Splice_Site	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:187446838C>A	uc003frp.3	-	5	1812	c.1355_splice	c.e5+1	p.R452_splice	LOC100131635_uc021xio.1_Intron|BCL6_uc011bsf.1_Splice_Site_p.R452_splice|BCL6_uc010hza.2_Splice_Site_p.R350_splice|BCL6_uc003frq.2_Splice_Site_p.R452_splice	NM_001130845	NP_001697	P41182	BCL6_HUMAN	Homo sapiens B-cell CLL/lymphoma 6 (BCL6), transcript variant 2, mRNA.	452					negative regulation of B cell apoptosis|negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		CTGAAATCACCTGTTAACGAT	0.542000			"""T, Mis"""	"""IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"""	"""NHL, CLL"""									26			4		0.184627	0.186034	1	1	0
NPM1	4869	broad.mit.edu	37	5	170817090	170817090	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:170817090A>G	uc003mbi.3	+	1	339	c.94A>G	c.(94-96)Aag>Gag	p.K32E	NPM1_uc003mbh.3_Missense_Mutation_p.K32E|NPM1_uc003mbj.3_Missense_Mutation_p.K32E	NM_002520	NP_002511	P06748	NPM_HUMAN	Homo sapiens nucleophosmin (nucleolar phosphoprotein B23, numatrin) (NPM1), transcript variant 1, mRNA.	32	Necessary for interaction with APEX1.|Required for interaction with SENP3.				CenH3-containing nucleosome assembly at centromere|DNA repair|anti-apoptosis|cell aging|centrosome cycle|interspecies interaction between organisms|intracellular protein transport|negative regulation of cell proliferation|negative regulation of centrosome duplication|nucleocytoplasmic transport|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|regulation of endodeoxyribonuclease activity|regulation of endoribonuclease activity|ribosome assembly|signal transduction	nucleolus|nucleoplasm|ribonucleoprotein complex|spindle pole centrosome	NF-kappaB binding|RNA binding|Tat protein binding|histone binding|protein binding|protein heterodimerization activity|protein homodimerization activity|ribosomal large subunit binding|ribosomal small subunit binding|transcription coactivator activity|unfolded protein binding		NPM1/ALK(632)	central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4261)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	4269	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TTATCACTTTAAGGTGGATAA	0.328000			"""T, F """	"""ALK, RARA, MLF1"""	"""NHL, APL, AML"""									22			17		0	0	1	0	0
C2orf78	388960	broad.mit.edu	37	2	74042505	74042505	+	Silent	SNP	T	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:74042505T>A	uc002sjr.1	+	2	1276	c.1155T>A	c.(1153-1155)ccT>ccA	p.P385P		NM_001080474	NP_001073943	A6NCI8	CB078_HUMAN	Homo sapiens chromosome 2 open reading frame 78 (C2orf78), mRNA.	385										cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						ATCAAGATCCTCCACTACTTC	0.438000														25			12		0	0	1	0	0
KRT81	3887	broad.mit.edu	37	12	52682229	52682229	+	Silent	SNP	G	A	A	rs140435760		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:52682229G>A	uc001sab.3	-	3	701	c.651C>T	c.(649-651)tgC>tgT	p.C217C	KRT86_uc010snq.2_Intron|KRT86_uc009zmg.3_Intron|KRT81_uc001sac.3_Intron	NM_002281	NP_002272	Q14533	KRT81_HUMAN	Homo sapiens keratin 81 (KRT81), mRNA.	217	Coil 1B.|Rod.					keratin filament	protein binding|structural molecule activity			breast(2)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|stomach(1)	16				BRCA - Breast invasive adenocarcinoma(357;0.189)		GGAGGTAGGCGCAGTCCACAT	0.622000														69			39		0	0	1	0	0
CLCA1	1179	broad.mit.edu	37	1	86954716	86954716	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:86954716T>G	uc001dlt.3	+	7	1480	c.1220T>G	c.(1219-1221)aTt>aGt	p.I407S	CLCA1_uc001dls.1_Missense_Mutation_p.I346S	NM_001285	NP_001276	A8K7I4	CLCA1_HUMAN	Homo sapiens chloride channel accessory 1 (CLCA1), mRNA.	407	VWFA.				calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity			NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		GGATCTGAAATTGTGCTGCTG	0.448000														109			6		0	0	1	0	0
CDK12	51755	broad.mit.edu	37	17	37627716	37627716	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:37627716C>A	uc010cvv.3	+	1	2217	c.1631C>A	c.(1630-1632)cCt>cAt	p.P544H	CDK12_uc010wef.1_Missense_Mutation_p.P543H|CDK12_uc002hrw.4_Missense_Mutation_p.P544H	NM_016507	NP_057591	Q9NYV4	CDK12_HUMAN	Homo sapiens cyclin-dependent kinase 12 (CDK12), transcript variant 1, mRNA.	544					RNA splicing|mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|RNA polymerase II carboxy-terminal domain kinase activity|cyclin-dependent protein kinase activity|protein binding			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						ACTACTACCCCTCCACCTCAG	0.532000			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)				154			17		1.15919e-05	1.28923e-05	1	1	0
CUX1	1523	broad.mit.edu	37	7	101838849	101838849	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:101838849C>T	uc003uys.4	+	13	1348	c.1221C>T	c.(1219-1221)aaC>aaT	p.N407N	CUX1_uc003uyw.3_Silent_p.N361N|CUX1_uc003uyv.3_Silent_p.N391N|CUX1_uc003uyt.3_Silent_p.N407N|CUX1_uc003uyu.3_Silent_p.N405N|CUX1_uc011kkn.2_Silent_p.N368N|CUX1_uc003uyx.4_Silent_p.N396N	NM_001202543	NP_001189472	P39880	CUX1_HUMAN	Homo sapiens cut-like homeobox 1 (CUX1), transcript variant 4, mRNA.	396					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						AGTCCGAGAACGCCGCGCTGC	0.682000														16			8		0	0	1	0	0
VPS13D	55187	broad.mit.edu	37	1	12353762	12353762	+	Splice_Site	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:12353762G>A	uc001atv.3	+	24	6174	c.6033_splice	c.e24+1	p.T2011_splice	VPS13D_uc001atw.3_Splice_Site_p.T2011_splice|VPS13D_uc001atx.3_Splice_Site_p.T1199_splice	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA.	2011					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GGGGCAGACGGTAGGTAGCCT	0.512000														18			6		0	0	1	0	0
PADI3	51702	broad.mit.edu	37	1	17593293	17593293	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:17593293T>C	uc001bai.3	+	4	528	c.488T>C	c.(487-489)gTc>gCc	p.V163A		NM_016233	NP_057317	Q9ULW8	PADI3_HUMAN	Homo sapiens peptidyl arginine deiminase, type III (PADI3), mRNA.	163					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	AGCTGTGATGTCCAGGACAAT	0.602000														49			43		0	0	1	0	0
OR52A5	390054	broad.mit.edu	37	11	5153502	5153502	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:5153502C>T	uc010qyx.2	-	0	371	c.371G>A	c.(370-372)cGc>cAc	p.R124H		NM_001005160	NP_001005160	Q9H2C5	O52A5_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily A, member 5 (OR52A5), mRNA.	124					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3)	35		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		GGCCACATAGCGATCCAGGGC	0.468000														21			15		0	0	1	0	0
CDC45	8318	broad.mit.edu	37	22	19483525	19483525	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:19483525C>T	uc011aha.2	+	7	738	c.660C>T	c.(658-660)taC>taT	p.Y220Y	CDC45_uc021wlg.1_Non-coding_Transcript|CDC45_uc011agz.1_Silent_p.Y183Y|CDC45_uc002zpr.3_Silent_p.Y188Y|CDC45_uc002zpt.3_Silent_p.Y142Y	NM_001178010	NP_001171481	O75419	CDC45_HUMAN	Homo sapiens cell division cycle 45 homolog (S. cerevisiae) (CDC45), transcript variant 1, mRNA.	188					DNA replication checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle	centrosome|nucleoplasm	protein binding	p.Y188Y(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	19						TCTTTGACTACGAGCAGTATG	0.393000														147			15		0	0	1	0	0
AGPAT9	84803	broad.mit.edu	37	4	84465730	84465730	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:84465730G>A	uc003how.3	+	2	401	c.183G>A	c.(181-183)tcG>tcA	p.S61S	AGPAT9_uc003hox.3_Silent_p.S61S|AGPAT9_uc003hoy.3_Silent_p.S61S	NM_032717	NP_116106	Q53EU6	GPAT3_HUMAN	Homo sapiens 1-acylglycerol-3-phosphate O-acyltransferase 9 (AGPAT9), transcript variant 1, mRNA.	61					phospholipid biosynthetic process|regulation of TOR signaling cascade|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	glycerol-3-phosphate O-acyltransferase activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(3)	13		Hepatocellular(203;0.114)				CAAAGGAGTCGATTCTTAAAA	0.343000														84			59		0	0	1	0	0
CLCN5	1184	broad.mit.edu	37	X	49846431	49846431	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:49846431T>G	uc004dos.1	+	5	898	c.650T>G	c.(649-651)gTg>gGg	p.V217G	CLCN5_uc004dor.1_Missense_Mutation_p.V287G|CLCN5_uc004doq.1_Missense_Mutation_p.V287G|CLCN5_uc004dot.1_Missense_Mutation_p.V217G	NM_000084	NP_000075	P51795	CLCN5_HUMAN	Homo sapiens chloride channel 5 (CLCN5), transcript variant 3, mRNA.	217					excretion	Golgi membrane|apical part of cell|endosome membrane|integral to plasma membrane	ATP binding|antiporter activity			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)	30	Ovarian(276;0.236)					CTAGTGCACGTGGCTTGCTGC	0.507000														39			29		0	0	1	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5190119	5190119	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:5190119C>A	uc003jdl.3	+	6	1221	c.1083C>A	c.(1081-1083)acC>acA	p.T361T	ADAMTS16_uc003jdk.1_Silent_p.T361T|ADAMTS16_uc003jdj.1_Silent_p.T361T	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 16 (ADAMTS16), mRNA.	361	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						CAGACCACACCTTAAGTAGCT	0.483000														68			8		0.000157383	0.000170012	1	1	0
IL34	146433	broad.mit.edu	37	16	70694006	70694006	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:70694006G>A	uc002ezh.2	+	6	1200	c.645G>A	c.(643-645)ccG>ccA	p.P215P	IL34_uc002ezi.2_Silent_p.P214P|IL34_uc021tkk.1_Silent_p.P215P	NM_152456	NP_689669	Q6ZMJ4	IL34_HUMAN	Homo sapiens interleukin 34 (IL34), transcript variant 1, mRNA.	215					positive regulation of cell proliferation|positive regulation of protein phosphorylation	extracellular space	cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding			breast(1)|central_nervous_system(1)|kidney(9)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(2)	17						TGTACCCTCCGCCCCCGTGGT	0.662000														63			49		0	0	1	0	0
CEP350	9857	broad.mit.edu	37	1	180044227	180044227	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:180044227C>T	uc001gnt.3	+	27	6021	c.5638C>T	c.(5638-5640)Cga>Tga	p.R1880*	CEP350_uc009wxl.2_Nonsense_Mutation_p.R1879*|CEP350_uc001gnv.3_Nonsense_Mutation_p.R15*	NM_014810	NP_055625	Q5VT06	CE350_HUMAN	Homo sapiens centrosomal protein 350kDa (CEP350), mRNA.	1880						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						AGAGTGGAAGCGACGTTTAGA	0.428000														19			5		0	0	1	0	0
FLT1	2321	broad.mit.edu	37	13	28908200	28908200	+	Nonsense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:28908200G>T	uc001usb.3	-	17	2840	c.2555C>A	c.(2554-2556)tCa>tAa	p.S852*	FLT1_uc001usa.3_Nonsense_Mutation_p.S70*	NM_002019	NP_002010	P17948	VGFR1_HUMAN	Homo sapiens fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor) (FLT1), transcript variant 1, mRNA.	852	Protein kinase.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	Golgi apparatus|extracellular space|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	GCACGTAGGTGATTTCTTAAT	0.433000														99			77		9.35569e-46	1.24542e-45	1	1	0
NOD2	64127	broad.mit.edu	37	16	50750880	50750880	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:50750880A>G	uc002egm.1	+	5	2730	c.2625A>G	c.(2623-2625)gcA>gcG	p.A875A	NOD2_uc010cbl.1_Intron|NOD2_uc010cbm.1_Silent_p.A653A|NOD2_uc010cbn.1_Intron|NOD2_uc010cbo.1_Intron|NOD2_uc010cbp.1_Intron|NOD2_uc010cbq.1_Silent_p.A13A|NOD2_uc010cbr.1_Intron|NOD2_uc010vgq.1_5'Flank	NM_022162	NP_071445	Q9HC29	NOD2_HUMAN	Homo sapiens nucleotide-binding oligomerization domain containing 2 (NOD2), mRNA.	875					JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of ERK1 and ERK2 cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of Notch signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of gamma-delta T cell activation|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				ACTTCTTGGCATTGAGGTGAG	0.502000														106			10		0	0	1	0	0
DROSHA	29102	broad.mit.edu	37	5	31511154	31511154	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:31511154C>T	uc003jhg.2	-	7	1779	c.1420G>A	c.(1420-1422)Gat>Aat	p.D474N	DROSHA_uc003jhh.2_Missense_Mutation_p.D437N|DROSHA_uc003jhi.2_Missense_Mutation_p.D437N|DROSHA_uc010iui.1_Missense_Mutation_p.D397N	NM_013235	NP_037367	Q9NRR4	RNC_HUMAN	Homo sapiens drosha, ribonuclease type III (DROSHA), transcript variant 1, mRNA.	474					RNA processing|gene silencing by RNA|ribosome biogenesis	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						AAATCTTCATCGAGCTTCGTC	0.478000														69			6		0	0	1	0	0
SLIT2	9353	broad.mit.edu	37	4	20619166	20619166	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:20619166A>G	uc003gpr.1	+	35	4445	c.4241A>G	c.(4240-4242)aAc>aGc	p.N1414S	SLIT2_uc003gps.1_Missense_Mutation_p.N1406S	NM_004787	NP_004778	O94813	SLIT2_HUMAN	Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA.	1414					Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	GTPase inhibitor activity|Roundabout binding|calcium ion binding|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						GATCTGTTTAACCCATGCCAG	0.552000														12			16		0	0	1	0	0
NFATC4	4776	broad.mit.edu	37	14	24839193	24839193	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:24839193G>A	uc001wpc.3	+	1	910	c.589G>A	c.(589-591)Gag>Aag	p.E197K	NFATC4_uc010alr.3_Missense_Mutation_p.E260K|NFATC4_uc010tok.2_Missense_Mutation_p.E260K|NFATC4_uc010tol.2_Missense_Mutation_p.E260K|NFATC4_uc010als.2_Missense_Mutation_p.E210K|NFATC4_uc010too.2_Missense_Mutation_p.E210K|NFATC4_uc010tom.2_Missense_Mutation_p.E210K|NFATC4_uc010ton.2_Missense_Mutation_p.E210K|NFATC4_uc010toq.2_Missense_Mutation_p.E229K|NFATC4_uc010alt.3_Missense_Mutation_p.E229K|NFATC4_uc010top.2_Missense_Mutation_p.E229K|NFATC4_uc010alu.3_Intron|NFATC4_uc010tor.2_Missense_Mutation_p.E197K|NFATC4_uc010tos.2_Missense_Mutation_p.E127K|NFATC4_uc010tot.2_Missense_Mutation_p.E185K|NFATC4_uc010tou.2_Missense_Mutation_p.E127K|NFATC4_uc010tov.2_Missense_Mutation_p.E185K|NFATC4_uc010tow.2_Missense_Mutation_p.E127K|NFATC4_uc010alv.3_Missense_Mutation_p.E185K|NFATC4_uc010tox.2_Missense_Mutation_p.E127K|NFATC4_uc001wpd.3_5'Flank|NFATC4_uc010toy.2_5'Flank|NFATC4_uc010toz.2_5'Flank	NM_004554	NP_001185895	Q14934	NFAC4_HUMAN	Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4 (NFATC4), transcript variant 2, mRNA.	197	Pro-rich.				cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		AGCCTGCGACGAGGTGGAGTC	0.682000														19			15		0	0	1	0	0
MED4	29079	broad.mit.edu	37	13	48651342	48651342	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:48651342T>G	uc001vby.1	-	6	772	c.746A>C	c.(745-747)aAa>aCa	p.K249T	MED4_uc010tgf.1_Missense_Mutation_p.K203T	NM_014166	NP_054885	Q9NPJ6	MED4_HUMAN	Homo sapiens mediator complex subunit 4 (MED4), mRNA.	249					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)	8		all_cancers(8;2.93e-25)|all_epithelial(8;4.38e-13)|all_lung(13;7.37e-06)|all_hematologic(8;8.61e-05)|Breast(56;0.000141)|Lung NSC(96;0.000518)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.00559)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;5.18e-07)		TTCATTTTCTTTATTATGCCC	0.368000														60			10		0	0	1	0	0
SEC16B	89866	broad.mit.edu	37	1	177899015	177899015	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:177899015C>T	uc001glj.1	-	30	4030	c.3164G>A	c.(3163-3165)cGc>cAc	p.R1055H	SEC16B_uc001glk.1_Missense_Mutation_p.R731H|SEC16B_uc009wwy.1_3'UTR|SEC16B_uc001glh.1_Missense_Mutation_p.R714H|SEC16B_uc001gli.1_Missense_Mutation_p.R1054H|SEC16B_uc009wwz.1_Missense_Mutation_p.R713H	NM_033127	NP_149118	Q96JE7	SC16B_HUMAN	Homo sapiens SEC16 homolog B (S. cerevisiae) (SEC16B), mRNA.	1054					protein transport|vesicle-mediated transport	Golgi membrane|endoplasmic reticulum membrane				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						GGTGGGATAGCGACGCTGAGC	0.512000														13			13		0	0	1	0	0
THRAP3	9967	broad.mit.edu	37	1	36752440	36752440	+	Silent	SNP	G	A	A	rs142896902		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:36752440G>A	uc001cae.4	+	3	833	c.609G>A	c.(607-609)gaG>gaA	p.E203E	THRAP3_uc001caf.4_Silent_p.E203E|THRAP3_uc001cag.1_Silent_p.E203E	NM_005119	NP_005110	Q9Y2W1	TR150_HUMAN	Homo sapiens thyroid hormone receptor associated protein 3 (THRAP3), mRNA.	203	Ser-rich.				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				AGGCCAAGGAGCAGACATTCT	0.537000			T	USP6	aneurysmal bone cysts									75			47		0	0	1	0	0
ACADM	34	broad.mit.edu	37	1	76211522	76211522	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:76211522C>T	uc001dgw.4	+	7	1061	c.631C>T	c.(631-633)Cct>Tct	p.P211S	ACADM_uc010ord.2_Missense_Mutation_p.P125S|ACADM_uc009wbr.3_Missense_Mutation_p.P244S|ACADM_uc010ore.2_Missense_Mutation_p.P175S|ACADM_uc010orf.2_Missense_Mutation_p.P22S|ACADM_uc009wbp.3_Missense_Mutation_p.P215S|ACADM_uc010org.2_Missense_Mutation_p.P81S|ACADM_uc009wbs.1_Non-coding_Transcript	NM_000016	NP_000007	P11310	ACADM_HUMAN	Homo sapiens acyl-CoA dehydrogenase, C-4 to C-12 straight chain (ACADM), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	211					carnitine biosynthetic process|carnitine metabolic process, CoA-linked|fatty acid beta-oxidation using acyl-CoA dehydrogenase|medium-chain fatty acid catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|identical protein binding|medium-chain-acyl-CoA dehydrogenase activity	p.D210V(1)		breast(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	18						TGATCCAGATCCTAAAGCTCC	0.378000														81			31		0	0	1	0	0
KIAA1462	57608	broad.mit.edu	37	10	30316836	30316836	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:30316836G>T	uc009xle.2	-	2	2378	c.2241C>A	c.(2239-2241)gcC>gcA	p.A747A	KIAA1462_uc001iux.3_Silent_p.A747A|KIAA1462_uc001iuy.3_Intron|KIAA1462_uc001iuz.3_Silent_p.A609A	NM_020848	NP_065899	Q9P266	K1462_HUMAN	Homo sapiens KIAA1462 (KIAA1462), mRNA.	747										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						TCAGGTTACGGGCACTTGGCC	0.572000														40			5		5.18039e-06	5.80246e-06	1	1	0
SLC27A5	10998	broad.mit.edu	37	19	59009910	59009910	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:59009910G>T	uc002qtc.2	-	9	2155	c.2045C>A	c.(2044-2046)gCt>gAt	p.A682D	SLC27A5_uc002qtb.3_Non-coding_Transcript	NM_012254	NP_036386	Q9Y2P5	S27A5_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 5 (SLC27A5), mRNA.	682					bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process	endoplasmic reticulum membrane|integral to membrane	ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		CTCACACACAGCCTGGTACAT	0.607000														11			7		1.26484e-09	1.50989e-09	1	1	0
MX1	4599	broad.mit.edu	37	21	42821137	42821137	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:42821137G>A	uc010goq.3	+	11	1693	c.1347G>A	c.(1345-1347)gtG>gtA	p.V449V	MX1_uc002yzh.3_Silent_p.V449V|MX1_uc002yzi.3_Silent_p.V449V	NM_001178046	NP_002453	P20591	MX1_HUMAN	Homo sapiens myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse) (MX1), transcript variant 3, mRNA.	449					induction of apoptosis|response to virus|type I interferon-mediated signaling pathway	cytosol	GTP binding|GTPase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	27		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)				CAGGCTTTGTGAATTACAGGA	0.423000														92			8		0	0	1	0	0
IRS1	3667	broad.mit.edu	37	2	227660889	227660889	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:227660889C>T	uc021vxn.1	-	0	2566	c.2566G>A	c.(2566-2568)Gcc>Acc	p.A856T	IRS1_uc002voh.4_Missense_Mutation_p.A856T	NM_005544	NP_005535	P35568	IRS1_HUMAN	Homo sapiens insulin receptor substrate 1 (IRS1), mRNA.	856					fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	SH2 domain binding|insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		GTGGGCCGGGCCAGGCGGCTA	0.662000														37			12		0	0	1	0	0
NDEL1	81565	broad.mit.edu	37	17	8363388	8363388	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:8363388C>A	uc002glj.3	+	7	1051	c.854C>A	c.(853-855)tCc>tAc	p.S285Y	NDEL1_uc002gli.3_Missense_Mutation_p.S285Y	NM_030808	NP_110435	Q9GZM8	NDEL1_HUMAN	Homo sapiens nudE nuclear distribution gene E homolog (A. nidulans)-like 1 (NDEL1), transcript variant 2, mRNA.	285	Interaction with CENPF.|Interaction with NEFL (By similarity).|Required for localization to the centrosome and interaction with dynein, dynactin, tubulin gamma, PCM1 and PCNT1.				chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|microtubule|spindle				large_intestine(6)|lung(4)|skin(3)	13						TCACGAAAATCCTATATTTCA	0.413000														121			10		4.68919e-08	5.46558e-08	1	1	0
FBXO25	26260	broad.mit.edu	37	8	418714	418714	+	Splice_Site	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:418714G>T	uc003wox.3	+	11	1281	c.1015_splice	c.e11-1	p.D339_splice	FBXO25_uc003woy.3_Splice_Site_p.D330_splice|FBXO25_uc003woz.3_Splice_Site_p.D263_splice|FBXO25_uc003wpa.3_Splice_Site_p.D113_splice	NM_183421	NP_904357	Q8TCJ0	FBX25_HUMAN	Homo sapiens F-box protein 25 (FBXO25), transcript variant 1, mRNA.	339						SCF ubiquitin ligase complex|nucleus	actin binding|ubiquitin-protein ligase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	10		Ovarian(12;0.00965)|Colorectal(14;0.0815)|Myeloproliferative disorder(644;0.116)|all_neural(12;0.122)		Epithelial(5;3.14e-14)|OV - Ovarian serous cystadenocarcinoma(5;1.56e-07)|BRCA - Breast invasive adenocarcinoma(11;1.88e-06)		CCTCCCCACAGGACTCAGGAC	0.617000														12			4		0.014758	0.0151755	1	1	0
LMLN	89782	broad.mit.edu	37	3	197762722	197762722	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:197762722G>T	uc010iar.3	+	15	1808	c.1786G>T	c.(1786-1788)Ggt>Tgt	p.G596C	LMLN_uc003fyt.3_Missense_Mutation_p.G544C|LMLN_uc011buo.2_Missense_Mutation_p.G559C|LMLN_uc010ias.3_Missense_Mutation_p.G507C|LMLN_uc003fyu.3_Missense_Mutation_p.G356C	NM_001136049	NP_001129521	Q96KR4	LMLN_HUMAN	Homo sapiens leishmanolysin-like (metallopeptidase M8 family) (LMLN), transcript variant 1, mRNA.	559					cell adhesion|cell division|mitosis|proteolysis	cytoplasm|membrane	metalloendopeptidase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)		TTCTCCTCAAGGTCTGAAAGT	0.383000														86			7		1	1	1	1	0
FBF1	85302	broad.mit.edu	37	17	73919558	73919558	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:73919558G>A	uc002jqc.3	-	12	1362	c.1088C>T	c.(1087-1089)gCc>gTc	p.A363V	FBF1_uc002jqa.1_Non-coding_Transcript|FBF1_uc010wsp.2_Missense_Mutation_p.A354V|FBF1_uc002jqd.1_Missense_Mutation_p.A364V|FBF1_uc010dgr.2_5'Flank	NM_001080542	NP_001074011	A6NLR5	A6NLR5_HUMAN	Homo sapiens Fas (TNFRSF6) binding factor 1 (FBF1), mRNA.	363										large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	4						TTCCCGATGGGCCTCTCTGGT	0.652000														4			6		0	0	1	0	0
SPEF2	79925	broad.mit.edu	37	5	35792449	35792449	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:35792449A>G	uc003jjo.3	+	30	4566	c.4455A>G	c.(4453-4455)atA>atG	p.I1485M	SPEF2_uc003jjp.1_Missense_Mutation_p.I971M|SPEF2_uc003jjr.3_Missense_Mutation_p.I540M	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA.	1485					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TAGGCATAATAGGAAATAAAG	0.343000														66			8		0	0	1	0	0
HIVEP1	3096	broad.mit.edu	37	6	12120714	12120714	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:12120714C>A	uc003nac.3	+	3	865	c.686C>A	c.(685-687)aCt>aAt	p.T229N	HIVEP1_uc011diq.2_Non-coding_Transcript	NM_002114	NP_002105	P15822	ZEP1_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 1 (HIVEP1), mRNA.	229					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				CCAAATAAAACTGCACGTTCC	0.428000														104			10		0.00621372	0.00645399	1	1	0
TET3	200424	broad.mit.edu	37	2	74274574	74274574	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:74274574G>T	uc002skb.4	+	0	1125	c.1125G>T	c.(1123-1125)gaG>gaT	p.E375D	TET3_uc010fez.2_Missense_Mutation_p.E375D	NM_144993	NP_659430	O43151	TET3_HUMAN	Homo sapiens tet methylcytosine dioxygenase 3 (TET3), mRNA.	375							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TTCAGAGGGAGGCTCCCACGC	0.662000														10			11		1.58986e-06	1.80238e-06	1	1	0
ATAD3B	83858	broad.mit.edu	37	1	1421519	1421519	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:1421519C>T	uc001afv.3	+	9	1094	c.993C>T	c.(991-993)atC>atT	p.I331I	ATAD3B_uc021oeq.1_5'UTR|ATAD3B_uc001afx.3_Silent_p.I285I	NM_031921	NP_114127	Q5T9A4	ATD3B_HUMAN	Homo sapiens ATPase family, AAA domain containing 3B (ATAD3B), nuclear gene encoding mitochondrial protein, mRNA.	331							ATP binding|nucleoside-triphosphatase activity			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)|urinary_tract(1)	10	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		TGCGCGACATCGCCATAGCAA	0.647000														44			13		0	0	1	0	0
ABCB5	340273	broad.mit.edu	37	7	20778740	20778740	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:20778740G>A	uc010kuh.3	+	23	3239	c.3002G>A	c.(3001-3003)cGc>cAc	p.R1001H	ABCB5_uc003suw.4_Missense_Mutation_p.R556H	NM_001163941	NP_848654	Q2M3G0	ABCB5_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 5 (ABCB5), transcript variant 1, mRNA.	556					regulation of membrane potential	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						ATAGACAGCCGCAGTCAAGAA	0.468000														10			11		0	0	1	0	0
OR5H2	79310	broad.mit.edu	37	3	98002546	98002546	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:98002546C>T	uc003dsj.1	+	0	815	c.815C>T	c.(814-816)gCa>gTa	p.A272V		NM_001005482	NP_001005482	Q8NGV7	OR5H2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 2 (OR5H2), mRNA.	272					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A272V(2)		breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						TCTCCACAAGCAGATGACCAA	0.378000														43			5		0	0	1	0	0
SLC27A1	376497	broad.mit.edu	37	19	17615406	17615406	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:17615406C>T	uc002ngu.1	+	11	1976	c.1926C>T	c.(1924-1926)ggC>ggT	p.G642G	SLC27A1_uc010xpp.1_Silent_p.G463G|SLC27A1_uc002ngv.1_Silent_p.G244G	NM_198580	NP_940982	Q6PCB7	S27A1_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 1 (SLC27A1), mRNA.	642					cardiolipin biosynthetic process|fatty acid metabolic process|long-chain fatty acid transport|negative regulation of phospholipid biosynthetic process|phosphatidic acid biosynthetic process|phosphatidylcholine biosynthetic process|phosphatidylethanolamine biosynthetic process|phosphatidylinositol biosynthetic process|phosphatidylserine biosynthetic process|transmembrane transport	endomembrane system|integral to membrane	fatty acid transporter activity|nucleotide binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						TCTGCTCGGGCGCCTTCGCCC	0.627000														20			10		0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152476093	152476093	+	Missense_Mutation	SNP	C	T	T	rs139798654	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:152476093C>T	uc021vrb.1	-	67	10044	c.10015G>A	c.(10015-10017)Gtt>Att	p.V3339I	NEB_uc002txu.3_Missense_Mutation_p.V3582I|NEB_uc021vrc.1_Missense_Mutation_p.V3582I|NEB_uc010fnx.3_Missense_Mutation_p.V3327I|NEB_uc021vrd.1_Missense_Mutation_p.V3339I	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	3339					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TTGGCCAAAACGATACCAAGC	0.478000														36			33		0	0	1	0	0
NGLY1	55768	broad.mit.edu	37	3	25773856	25773856	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:25773856G>T	uc003cdl.3	-	8	1487	c.1379C>A	c.(1378-1380)tCt>tAt	p.S460Y	NGLY1_uc010hfg.3_Missense_Mutation_p.S442Y|NGLY1_uc003cdm.3_Missense_Mutation_p.S460Y|NGLY1_uc011awo.2_Missense_Mutation_p.S418Y|NGLY1_uc003cdk.3_Non-coding_Transcript	NM_018297	NP_060767	Q96IV0	NGLY1_HUMAN	Homo sapiens N-glycanase 1 (NGLY1), transcript variant 1, mRNA.	460	PAW.				glycoprotein catabolic process	cytoplasm	metal ion binding|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)	18						CACTGACCCAGATATTCTTCC	0.413000														74			6		7.48243e-07	8.52591e-07	1	1	0
PTCHD1	139411	broad.mit.edu	37	X	23398314	23398314	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:23398314C>A	uc004dal.4	+	1	966	c.958C>A	c.(958-960)Ctt>Att	p.L320I	PTCHD1_uc010nfu.2_Missense_Mutation_p.L320I	NM_173495	NP_775766	Q96NR3	PTHD1_HUMAN	Homo sapiens patched domain containing 1 (PTCHD1), mRNA.	320	SSD.				cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						GATCATCAATCTTACTGGTGG	0.517000														130			13		4.93089e-13	6.11992e-13	1	1	0
DNAH1	25981	broad.mit.edu	37	3	52387488	52387488	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52387488C>T	uc011bef.2	+	19	3580	c.3319C>T	c.(3319-3321)Cgg>Tgg	p.R1107W	DNAH1_uc003ddt.1_Missense_Mutation_p.R1107W	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA.	1107	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CCCTGGCATGCGGATCCGGCA	0.607000														34			10		0	0	1	0	0
NMRK1	54981	broad.mit.edu	37	9	77683915	77683915	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:77683915C>T	uc004ajr.4	-	6	738	c.493G>A	c.(493-495)Gtt>Att	p.V165I	NMRK1_uc004ajs.4_Missense_Mutation_p.V169I|NMRK1_uc004ajt.4_Missense_Mutation_p.V141I	NM_017881	NP_060351	Q9NWW6	NRK1_HUMAN	Homo sapiens chromosome 9 open reading frame 95 (C9orf95), transcript variant 1, mRNA.	165					pyridine nucleotide biosynthetic process		ATP binding|metal ion binding|ribosylnicotinamide kinase activity										CACTTACCAACTTCCCATGTG	0.428000														35			6		0	0	1	0	0
SLC22A24	283238	broad.mit.edu	37	11	62911081	62911081	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:62911081G>A	uc021qkp.1	-	0	613	c.171C>T	c.(169-171)gaC>gaT	p.D57D		NM_001136506	NP_001129978			Homo sapiens solute carrier family 22, member 24 (SLC22A24), mRNA.											kidney(1)|stomach(1)	2						CAGACACAGTGTCATTGTCCA	0.517000														18			3		0	0	1	0	0
APEX1	328	broad.mit.edu	37	14	20925444	20925444	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:20925444A>G	uc001vxg.3	+	4	1066	c.734A>G	c.(733-735)cAg>cGg	p.Q245R	OSGEP_uc001vxf.3_5'Flank|APEX1_uc001vxh.3_Missense_Mutation_p.Q245R|APEX1_uc001vxi.3_Missense_Mutation_p.Q245R|APEX1_uc021rnr.1_Missense_Mutation_p.Q245R	NM_001641	NP_001632	P27695	APEX1_HUMAN	Homo sapiens APEX nuclease (multifunctional DNA repair enzyme) 1 (APEX1), transcript variant 1, mRNA.	245					DNA demethylation|DNA recombination|base-excision repair|positive regulation of DNA repair|positive regulation of anti-apoptosis|regulation of mRNA stability|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|endoplasmic reticulum|mitochondrion|nuclear speck|nucleolus|perinuclear region of cytoplasm|ribosome	3'-5' exonuclease activity|DNA-(apurinic or apyrimidinic site) lyase activity|RNA binding|chromatin DNA binding|damaged DNA binding|metal ion binding|oxidoreductase activity|phosphodiesterase I activity|protein binding|ribonuclease H activity|site-specific endodeoxyribonuclease activity, specific for altered base|transcription coactivator activity|transcription corepressor activity|uracil DNA N-glycosylase activity			breast(2)|endometrium(1)|large_intestine(4)|ovary(2)	9	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0224)|READ - Rectum adenocarcinoma(17;0.193)	Lucanthone(DB04967)	GAATTACTGCAGGCTGTGCCA	0.498000								Other BER factors						54			30		0	0	1	0	0
PPFIA4	8497	broad.mit.edu	37	1	203045491	203045491	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:203045491A>G	uc009xaj.3	+	34	3972	c.3972A>G	c.(3970-3972)ggA>ggG	p.G1324G	PPFIA4_uc010pqf.2_Silent_p.G906G|PPFIA4_uc001gyz.3_Silent_p.G693G|PPFIA4_uc001gza.3_Silent_p.G684G|PPFIA4_uc001gzb.1_3'UTR|PPFIA4_uc001gzc.1_3'UTR			O75335	LIPA4_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4 (PPFIA4), mRNA.	693					cell communication	cell surface|cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						ATCTCTACGGACACATGCTCT	0.602000														53			36		0	0	1	0	0
PDE12	201626	broad.mit.edu	37	3	57542583	57542583	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:57542583C>T	uc003diw.4	+	0	603	c.477C>T	c.(475-477)cgC>cgT	p.R159R	PDE12_uc003div.3_Silent_p.R159R	NM_177966	NP_808881	Q6L8Q7	PDE12_HUMAN	Homo sapiens phosphodiesterase 12 (PDE12), mRNA.	159							hydrolase activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(4)|lung(3)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20				KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127)		AGGTGGAGCGCAACCCGCCCG	0.622000														18			11		0	0	1	0	0
CCND1	595	broad.mit.edu	37	11	69457922	69457922	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:69457922T>C	uc001opa.3	+	1	531	c.322T>C	c.(322-324)Ttc>Ctc	p.F108L		NM_053056	NP_444284	P24385	CCND1_HUMAN	Homo sapiens cyclin D1 (CCND1), mRNA.	108	Cyclin N-terminal.				G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle|cell division|mitotic cell cycle G1/S transition DNA damage checkpoint|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation|response to UV-A|response to drug	cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane|nucleoplasm	protein kinase binding			NS(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|ovary(1)|urinary_tract(1)	23	all_cancers(3;2.01e-114)|all_epithelial(3;3.59e-122)|Breast(3;5.4e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;8.22e-16)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348)		Epithelial(3;7.2e-57)|all cancers(3;7.75e-51)|BRCA - Breast invasive adenocarcinoma(2;4.9e-48)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537)		Arsenic trioxide(DB01169)	CACTTGCATGTTCGTGGCCTC	0.617000			T	"""IGH@, FSTL3"""	"""CLL, B-ALL, breast"""					Multiple Myeloma(6;0.086)				13			4		0	0	1	0	0
DCC	1630	broad.mit.edu	37	18	50683750	50683750	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:50683750C>A	uc002lfe.2	+	7	1902	c.1286C>A	c.(1285-1287)cCt>cAt	p.P429H	DCC_uc010xdr.1_Missense_Mutation_p.P277H|DCC_uc010dpf.2_Missense_Mutation_p.P84H	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	429	Fibronectin type-III 1.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		p.P429H(2)		NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		AGTGTCCTCCCTTCGGCTCCC	0.542000														148			15		1.15088e-07	1.32926e-07	1	1	0
ELFN2	114794	broad.mit.edu	37	22	37770993	37770993	+	Silent	SNP	G	A	A	rs146700910	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:37770993G>A	uc003asq.4	-	2	1368	c.582C>T	c.(580-582)ttC>ttT	p.F194F	ELFN2_uc021wph.1_Silent_p.F194F	NM_052906	NP_443138	Q5R3F8	LRFN6_HUMAN	Homo sapiens extracellular leucine-rich repeat and fibronectin type III domain containing 2 (ELFN2), mRNA.	194	LRRCT.					cell surface|integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					CCAGGAAGCCGAAGAGGTCGC	0.647000														19			13		0	0	1	0	0
PSMD3	5709	broad.mit.edu	37	17	38151521	38151521	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:38151521C>T	uc002htn.1	+	7	1353	c.1189C>T	c.(1189-1191)Cgg>Tgg	p.R397W	PSMD3_uc010wen.1_Non-coding_Transcript|PSMD3_uc010weo.1_Missense_Mutation_p.R298W	NM_002809	NP_002800	O43242	PSMD3_HUMAN	Homo sapiens proteasome (prosome, macropain) 26S subunit, non-ATPase, 3 (PSMD3), mRNA.	397	PCI.				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|viral reproduction	proteasome complex	enzyme regulator activity|protein binding	p.R397Q(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Colorectal(19;0.000442)					CCTAATTATCCGGCTGCGGCA	0.547000														95			61		0	0	1	0	0
ELFN2	114794	broad.mit.edu	37	22	37771272	37771272	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:37771272G>A	uc003asq.4	-	2	1089	c.303C>T	c.(301-303)ggC>ggT	p.G101G	ELFN2_uc021wph.1_Silent_p.G101G	NM_052906	NP_443138	Q5R3F8	LRFN6_HUMAN	Homo sapiens extracellular leucine-rich repeat and fibronectin type III domain containing 2 (ELFN2), mRNA.	101						cell surface|integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					GGCTCGACTGGCCCAGGAAGG	0.602000														32			5		0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	34130616	34130616	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:34130616C>A	uc001zhi.3	+	88	12505	c.12435C>A	c.(12433-12435)gcC>gcA	p.A4145A	RYR3_uc010bar.3_Silent_p.A4140A	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	4145					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TTGCTATGGCCTGTGCCTCTG	0.493000														73			13		1.5739e-10	1.90488e-10	1	1	0
PYCARD	29108	broad.mit.edu	37	16	31213042	31213042	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:31213042G>A	uc010cak.3	-	2	538	c.452C>T	c.(451-453)gCc>gTc	p.A151V	PYCARD_uc002ebm.3_Missense_Mutation_p.A132V	NM_013258	NP_037390	Q9ULZ3	ASC_HUMAN	Homo sapiens PYD and CARD domain containing (PYCARD), transcript variant 1, mRNA.	151	CARD.				induction of apoptosis|positive regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|proteolysis|tumor necrosis factor-mediated signaling pathway	IkappaB kinase complex	Pyrin domain binding|caspase activator activity|cysteine-type endopeptidase activity|protein homodimerization activity			NS(1)|kidney(1)	2						GGTGGGCTCGGCCCGCACTGC	0.607000														42			36		0	0	1	0	0
CDC42BPG	55561	broad.mit.edu	37	11	64594799	64594799	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:64594799G>A	uc001obs.4	-	32	4222	c.4222C>T	c.(4222-4224)Cgc>Tgc	p.R1408C		NM_017525	NP_059995	Q6DT37	MRCKG_HUMAN	Homo sapiens CDC42 binding protein kinase gamma (DMPK-like) (CDC42BPG), mRNA.	1408					actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(1)|lung(3)	4						AAGAAGCGGCGCTTGCTCTTG	0.667000														42			54		0	0	1	0	0
PASK	23178	broad.mit.edu	37	2	242075446	242075446	+	Silent	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:242075446A>C	uc002wao.2	-	7	1279	c.1146T>G	c.(1144-1146)acT>acG	p.T382T	PASK_uc010zol.2_Silent_p.T196T|PASK_uc010zom.2_Silent_p.T347T|PASK_uc010fzl.2_Silent_p.T382T|PASK_uc010zon.2_Silent_p.T163T|PASK_uc021vzf.1_Silent_p.T382T|PASK_uc002wap.3_5'Flank|PASK_uc002waq.3_Silent_p.T382T	NM_015148	NP_055963	Q96RG2	PASK_HUMAN	Homo sapiens PAS domain containing serine/threonine kinase (PASK), transcript variant 2, mRNA.	382	PAS 2.				regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		GAATCAGGAAAGTGATATTCT	0.532000														66			48		0	0	1	0	0
ART1	417	broad.mit.edu	37	11	3681427	3681427	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:3681427G>A	uc001lye.1	+	2	779	c.678G>A	c.(676-678)ggG>ggA	p.G226G	ART1_uc009yeb.1_Silent_p.G226G	NM_004314	NP_004305	P52961	NAR1_HUMAN	Homo sapiens ADP-ribosyltransferase 1 (ART1), mRNA.	226					protein ADP-ribosylation	anchored to membrane|integral to plasma membrane|sarcoplasmic reticulum membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity			endometrium(1)|large_intestine(2)|liver(1)|lung(3)|skin(1)	8		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195)	Becaplermin(DB00102)	CCTGCCTTGGGGCCCCTATCA	0.597000														16			19		0	0	1	0	0
PTK2	5747	broad.mit.edu	37	8	141711023	141711023	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:141711023A>G	uc003yvu.3	-	25	2776	c.2466T>C	c.(2464-2466)gaT>gaC	p.D822D	PTK2_uc011ljp.2_Silent_p.D130D|PTK2_uc003yvo.3_Silent_p.D450D|PTK2_uc011ljq.2_Silent_p.D517D|PTK2_uc003yvp.3_Silent_p.D490D|PTK2_uc003yvq.3_Silent_p.D348D|PTK2_uc003yvr.3_Silent_p.D762D|PTK2_uc003yvs.3_Silent_p.D776D|PTK2_uc011ljr.2_Silent_p.D822D|PTK2_uc003yvt.3_Silent_p.D844D|PTK2_uc003yvv.3_Silent_p.D722D	NM_153831	NP_722560	Q05397	FAK1_HUMAN	Homo sapiens PTK2 protein tyrosine kinase 2 (PTK2), transcript variant 1, mRNA.	822	Interaction with TGFB1I1.				axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|SH2 domain binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			GCCAGCGCTGATCTTCTTCCA	0.438000														58			31		0	0	1	0	0
CAPN9	10753	broad.mit.edu	37	1	230928214	230928214	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:230928214T>G	uc001htz.1	+	15	1878	c.1765T>G	c.(1765-1767)Ttc>Gtc	p.F589V	CAPN9_uc009xfg.1_Missense_Mutation_p.F526V|CAPN9_uc001hua.1_Missense_Mutation_p.F563V	NM_006615	NP_006606	O14815	CAN9_HUMAN	Homo sapiens calpain 9 (CAPN9), transcript variant 1, mRNA.	589	Domain IV.|EF-hand 2.				digestion|proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)				ATTCAAAGTGTTCTGGGACAA	0.527000														100			13		0	0	1	0	0
INSR	3643	broad.mit.edu	37	19	7170584	7170584	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:7170584C>T	uc002mgd.1	-	5	1556	c.1447G>A	c.(1447-1449)Gac>Aac	p.D483N	INSR_uc002mge.1_Missense_Mutation_p.D483N|INSR_uc002mgf.3_Missense_Mutation_p.D483N	NM_000208	NP_000199	P06213	INSR_HUMAN	Homo sapiens insulin receptor (INSR), transcript variant 1, mRNA.	483					G-protein coupled receptor protein signaling pathway|activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of DNA replication|positive regulation of MAPKKK cascade|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|PTB domain binding|SH2 domain binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|receptor signaling protein tyrosine kinase activity			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AGGGCAATGTCGTTTCTCTCC	0.502000														146			17		0	0	1	0	0
SLC4A3	6508	broad.mit.edu	37	2	220498005	220498005	+	Silent	SNP	C	T	T	rs149397338	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:220498005C>T	uc002vmo.4	+	9	1577	c.1368C>T	c.(1366-1368)aaC>aaT	p.N456N	SLC4A3_uc002vmp.4_Silent_p.N429N|SLC4A3_uc010fwm.3_5'UTR|SLC4A3_uc010fwn.1_5'UTR	NM_201574	NP_963868	P48751	B3A3_HUMAN	Homo sapiens solute carrier family 4, anion exchanger, member 3 (SLC4A3), transcript variant 2, mRNA.	429					bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCCATCCCAACGATGACAAGG	0.582000														44			27		0	0	1	0	0
LDLRAD2	401944	broad.mit.edu	37	1	22141118	22141118	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:22141118G>A	uc001bfg.1	+	1	500	c.313G>A	c.(313-315)Gac>Aac	p.D105N		NM_001013693	NP_001013715	Q5SZI1	LRAD2_HUMAN	Homo sapiens low density lipoprotein receptor class A domain containing 2 (LDLRAD2), mRNA.	105						integral to membrane	receptor activity			endometrium(2)|large_intestine(1)|lung(3)	6		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.00166)|all_lung(284;0.00172)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;5.2e-26)|COAD - Colon adenocarcinoma(152;1.13e-05)|GBM - Glioblastoma multiforme(114;1.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00598)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)		GGCCCCGGCCGACCCGTGCGC	0.756000														8			10		0	0	1	0	0
LNX2	222484	broad.mit.edu	37	13	28136762	28136762	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:28136762A>G	uc001url.4	-	4	1321	c.1012T>C	c.(1012-1014)Ttc>Ctc	p.F338L	LNX2_uc001urm.1_Missense_Mutation_p.F338L	NM_153371	NP_699202	Q8N448	LNX2_HUMAN	Homo sapiens ligand of numb-protein X 2 (LNX2), mRNA.	338							zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31		Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.113)|all cancers(112;0.127)|Epithelial(112;0.248)		GCCACTTGGAAAATCTCTTCT	0.488000														57			4		0	0	1	0	0
KIAA0368	23392	broad.mit.edu	37	9	114154072	114154072	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:114154072A>G	uc004bfe.1	-	29	3659	c.3659T>C	c.(3658-3660)gTa>gCa	p.V1220A		NM_001080398	NP_001073867			Homo sapiens KIAA0368 (KIAA0368), mRNA.											NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						CCCTTGAAATACCACTGTCTC	0.338000														12			5		0	0	1	0	0
EPHB1	2047	broad.mit.edu	37	3	134881021	134881021	+	Splice_Site	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:134881021C>T	uc003eqt.3	+	7	1960	c.1585_splice	c.e7+1	p.D529_splice	EPHB1_uc003equ.3_Splice_Site_p.D90_splice	NM_004441	NP_004432	P54762	EPHB1_HUMAN	Homo sapiens EPH receptor B1 (EPHB1), mRNA.	529						integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						CTCTGACTGACGGTAAGGGTC	0.562000														34			18		0	0	1	0	0
SELP	6403	broad.mit.edu	37	1	169582345	169582345	+	Missense_Mutation	SNP	C	A	A	rs145985654		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:169582345C>A	uc001ggi.4	-	4	662	c.597G>T	c.(595-597)gaG>gaT	p.E199D	SELP_uc001ggh.3_Missense_Mutation_p.E34D|SELP_uc009wvr.3_Missense_Mutation_p.E199D	NM_003005	NP_002996	P16109	LYAM3_HUMAN	Homo sapiens selectin P (granule membrane protein 140kDa, antigen CD62) (SELP), mRNA.	199	Sushi 1.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	GTTCTCCACACTCTCTCACTG	0.443000														28			21		2.39556e-15	3.01546e-15	1	1	0
VASH1	22846	broad.mit.edu	37	14	77236357	77236357	+	Missense_Mutation	SNP	C	T	T	rs145801473		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:77236357C>T	uc001xst.2	+	1	1291	c.361C>T	c.(361-363)Cgc>Tgc	p.R121C	VASH1_uc001xss.3_Missense_Mutation_p.R121C	NM_014909	NP_055724	Q7L8A9	VASH1_HUMAN	Homo sapiens vasohibin 1 (VASH1), mRNA.	121					cell cycle arrest|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of endothelial cell proliferation	endoplasmic reticulum|extracellular space				breast(2)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|urinary_tract(3)	10			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0283)		TGTCCCTGAGCGCCTGGAAGC	0.592000														46			42		0	0	1	0	0
IQSEC3	440073	broad.mit.edu	37	12	266718	266718	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:266718C>T	uc001qhw.2	+	6	2301	c.2301C>T	c.(2299-2301)ccC>ccT	p.P767P	IQSEC3_uc001qhu.1_Silent_p.P464P	NM_001170738	NP_001164209	Q9UPP2	IQEC3_HUMAN	Homo sapiens IQ motif and Sec7 domain 3 (IQSEC3), transcript variant 1, mRNA.	767	SEC7.				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		TGTGCAACCCCGAAGTGGTTC	0.627000														36			21		0	0	1	0	0
ARID1A	8289	broad.mit.edu	37	1	27106327	27106327	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:27106327C>T	uc001bmv.1	+	19	6311	c.5938C>T	c.(5938-5940)Cgc>Tgc	p.R1980C	ARID1A_uc001bmu.1_Missense_Mutation_p.R1763C|ARID1A_uc001bmx.1_Missense_Mutation_p.R826C|ARID1A_uc009vsm.1_Missense_Mutation_p.R308C|ARID1A_uc009vsn.1_Missense_Mutation_p.R222C	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	1980					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TCTTGCCAAGCGCTGCGTCTG	0.537000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""									55			31		0	0	1	0	0
RNF111	54778	broad.mit.edu	37	15	59384789	59384789	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:59384789G>T	uc002afv.3	+	12	3096	c.2817G>T	c.(2815-2817)gaG>gaT	p.E939D	RNF111_uc002afs.3_Missense_Mutation_p.E931D|RNF111_uc002aft.3_Missense_Mutation_p.E940D|RNF111_uc002afu.3_Missense_Mutation_p.E930D|RNF111_uc002afw.3_Missense_Mutation_p.E948D|RNF111_uc002afx.3_Missense_Mutation_p.E465D|RNF111_uc002afy.3_Missense_Mutation_p.E82D	NM_017610	NP_060080	Q6ZNA4	RN111_HUMAN	Homo sapiens ring finger protein 111 (RNF111), mRNA.	939					multicellular organismal development|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		AAGACACAGAGGAAAAATGTA	0.368000														10			3		0.00909568	0.00940365	1	1	0
SLC16A5	9121	broad.mit.edu	37	17	73094231	73094231	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:73094231T>C	uc002jmr.3	+	3	670	c.298T>C	c.(298-300)Tct>Cct	p.S100P	SLC16A5_uc002jmt.3_Missense_Mutation_p.S100P|SLC16A5_uc002jmu.3_Missense_Mutation_p.S100P|SLC16A5_uc010wrt.2_Missense_Mutation_p.S140P	NM_004695	NP_004686	O15375	MOT6_HUMAN	Homo sapiens solute carrier family 16, member 5 (monocarboxylic acid transporter 6) (SLC16A5), mRNA.	100					organic anion transport	integral to plasma membrane|membrane fraction	secondary active monocarboxylate transmembrane transporter activity|symporter activity			central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	all_lung(278;0.226)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		Pyruvic acid(DB00119)	CAGCTCCTTCTCTCACAACCT	0.587000														113			9		0	0	1	0	0
SNW1	22938	broad.mit.edu	37	14	78202306	78202306	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:78202306G>A	uc010tvn.1	-	6	709	c.682C>T	c.(682-684)Cct>Tct	p.P228S	SNW1_uc001xuf.3_Missense_Mutation_p.P228S|SNW1_uc010tvm.2_Missense_Mutation_p.P153S			Q13573	SNW1_HUMAN	Homo sapiens SNW domain containing 1 (SNW1), mRNA.	228	Pro-rich.|SNW.				negative regulation of transcription, DNA-dependent|nuclear mRNA splicing, via spliceosome|regulation of transcription from RNA polymerase II promoter	catalytic step 2 spliceosome|nucleoplasm	Notch binding			NS(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		TGCATGACAGGCGCAGGAGGA	0.388000														16			8		0	0	1	0	0
MOXD1	26002	broad.mit.edu	37	6	132618927	132618927	+	Splice_Site	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:132618927G>A	uc003qdf.3	-	11	1776	c.1677_splice	c.e11+1	p.S559_splice	MOXD1_uc003qde.3_Splice_Site_p.S491_splice	NM_015529	NP_056344	Q6UVY6	MOXD1_HUMAN	Homo sapiens monooxygenase, DBH-like 1 (MOXD1), transcript variant 2, mRNA.	559					catecholamine metabolic process	endoplasmic reticulum membrane|integral to membrane	copper ion binding|dopamine beta-monooxygenase activity	p.S491L(1)|p.S559L(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1)	37	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)		AGAGCTTACCGACCACTCAGC	0.418000														44			29		0	0	1	0	0
ZFPM1	161882	broad.mit.edu	37	16	88598606	88598606	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:88598606C>T	uc002fkv.3	+	6	942	c.909C>T	c.(907-909)agC>agT	p.S303S		NM_153813	NP_722520	Q8IX07	FOG1_HUMAN	Homo sapiens zinc finger protein, multitype 1 (ZFPM1), mRNA.	303					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|transcription factor binding|zinc ion binding			central_nervous_system(1)|ovary(2)|urinary_tract(1)	4				BRCA - Breast invasive adenocarcinoma(80;0.0478)		GCTGCCCCAGCGCCAGCTCCC	0.716000														18			16		0	0	1	0	0
TRPC4	7223	broad.mit.edu	37	13	38211112	38211112	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:38211112G>T	uc010abx.3	-	10	3112	c.2877C>A	c.(2875-2877)gaC>gaA	p.D959E	TRPC4_uc010abv.3_Missense_Mutation_p.D534E|TRPC4_uc001uwt.3_Missense_Mutation_p.D870E|TRPC4_uc001uws.3_Missense_Mutation_p.D954E|TRPC4_uc010tey.2_Missense_Mutation_p.D813E|TRPC4_uc010abw.3_Missense_Mutation_p.D781E|TRPC4_uc010aby.3_Missense_Mutation_p.D805E	NM_003306	NP_003297	Q9UBN4	TRPC4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 4 (TRPC4), transcript variant epsilon, mRNA.	954	Binds to ITPR1, ITPR2 and ITPR3.				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		CTATACTAGAGTCCTCTTCTT	0.443000														52			20		5.03518e-11	6.129e-11	1	1	0
C1orf38	9473	broad.mit.edu	37	1	28209217	28209217	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:28209217A>G	uc001bpc.4	+	3	1410	c.1382A>G	c.(1381-1383)gAc>gGc	p.D461G	C1orf38_uc001bpa.3_Intron|C1orf38_uc001boz.3_Intron|C1orf38_uc010ofn.2_Missense_Mutation_p.D265G|C1orf38_uc010ofo.2_Missense_Mutation_p.D332G	NM_001105556	NP_001099026	Q5TEJ8	THMS2_HUMAN	Homo sapiens chromosome 1 open reading frame 38 (C1orf38), transcript variant 3, mRNA.	461	CABIT 2.				cell adhesion|inflammatory response					endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	8		Colorectal(325;3.46e-05)|all_lung(284;0.000129)|Lung NSC(340;0.000259)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;2.52e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0649)		GTGGCCAAGGACACCAGCCAC	0.597000														31			14		0	0	1	0	0
WDR62	284403	broad.mit.edu	37	19	36594735	36594735	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:36594735C>T	uc002odd.2	+	29	4096	c.4005C>T	c.(4003-4005)agC>agT	p.S1335S	WDR62_uc002odc.2_Silent_p.S1330S	NM_001083961	NP_001077430	O43379	WDR62_HUMAN	Homo sapiens WD repeat domain 62 (WDR62), transcript variant 1, mRNA.	1330					cerebral cortex development	nucleus				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TGGAAGAGAGCGCCCTGAGGC	0.672000														41			28		0	0	1	0	0
KRTAP4-5	85289	broad.mit.edu	37	17	39305720	39305720	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:39305720G>A	uc002hwb.3	-	0	335	c.300C>T	c.(298-300)tgC>tgT	p.C100C		NM_033188	NP_149445	Q9BYR2	KRA45_HUMAN	Homo sapiens keratin associated protein 4-5 (KRTAP4-5), mRNA.	105	27 X 5 AA repeats of C-C-[GRQVCHIEK]- [SPTR]-[VSTQYC].					keratin filament				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)	6		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			tggacacacagcagctggggc	0.662000														27			10		0	0	1	0	0
PARP4	143	broad.mit.edu	37	13	25029234	25029234	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:25029234C>T	uc001upl.3	-	21	2785	c.2679G>A	c.(2677-2679)ttG>ttA	p.L893L	PARP4_uc010tdc.2_Silent_p.L893L	NM_006437	NP_006428	Q9UKK3	PARP4_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 4 (PARP4), mRNA.	893	VWFA.				DNA repair|cell death|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|NAD+ ADP-ribosyltransferase activity|enzyme binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		GCTTGGCTTGCAAGAATGTCA	0.517000														96			21		0	0	1	0	0
FAM73A	374986	broad.mit.edu	37	1	78309003	78309003	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:78309003G>T	uc010ork.2	+	7	939	c.907G>T	c.(907-909)Gat>Tat	p.D303Y	FAM73A_uc001dhx.3_Missense_Mutation_p.D303Y|FAM73A_uc010orl.2_Missense_Mutation_p.D265Y|FAM73A_uc001dhy.1_Missense_Mutation_p.D92Y	NM_198549	NP_940951	Q8NAN2	FA73A_HUMAN	Homo sapiens family with sequence similarity 73, member A (FAM73A), mRNA.	303						integral to membrane				breast(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	19				Colorectal(170;0.226)		TAAAGATACAGATATCACCAT	0.403000														46			23		1.96895e-08	2.30809e-08	1	1	0
SPPL2A	84888	broad.mit.edu	37	15	51031993	51031993	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:51031993C>A	uc001zyv.3	-	5	797	c.617G>T	c.(616-618)aGa>aTa	p.R206I		NM_032802	NP_116191	Q8TCT8	PSL2_HUMAN	Homo sapiens signal peptide peptidase-like 2A (SPPL2A), mRNA.	206						integral to membrane	aspartic-type endopeptidase activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15				all cancers(107;0.000712)|GBM - Glioblastoma multiforme(94;0.00314)		CCTCATTTCTCTATCTTCAGT	0.318000														29			5		0.014758	0.0151755	1	1	0
SYNE2	23224	broad.mit.edu	37	14	64596583	64596583	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:64596583A>G	uc001xgl.3	+	74	14333	c.14103A>G	c.(14101-14103)ttA>ttG	p.L4701L	SYNE2_uc001xgm.3_Silent_p.L4701L|SYNE2_uc021ruh.1_Silent_p.L4618L|SYNE2_uc010apy.3_Silent_p.L1086L|SYNE2_uc010apz.1_Silent_p.L593L	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	4701					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GGCTTCATTTACCTTATGCTT	0.458000														36			24		0	0	1	0	0
MICAL1	64780	broad.mit.edu	37	6	109775385	109775385	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:109775385G>T	uc011eaq.2	-	1	363	c.72C>A	c.(70-72)acC>acA	p.T24T	MICAL1_uc003ptj.3_Silent_p.T5T|MICAL1_uc003ptk.3_Silent_p.T5T|MICAL1_uc010kdr.3_Silent_p.T5T	NM_022765	NP_073602	Q8TDZ2	MICA1_HUMAN	Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 1 (MICAL1), transcript variant 1, mRNA.	5					cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		GGTTGGTGGAGGTAGGTGAAG	0.627000														6			4		2.56e-06	2.88678e-06	1	1	0
COL4A2	1284	broad.mit.edu	37	13	111109744	111109744	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:111109744C>T	uc001vqx.3	+	20	1683	c.1394C>T	c.(1393-1395)cCc>cTc	p.P465L		NM_001846	NP_001837	P08572	CO4A2_HUMAN	Homo sapiens collagen, type IV, alpha 2 (COL4A2), mRNA.	465	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			CCTGGGCTTCCCGGCTCCCCT	0.602000														16			7		0	0	1	0	0
HAUS5	23354	broad.mit.edu	37	19	36109559	36109559	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:36109559T>G	uc002oam.1	+	11	1025	c.974T>G	c.(973-975)cTg>cGg	p.L325R		NM_015302	NP_056117	O94927	HAUS5_HUMAN	Homo sapiens HAUS augmin-like complex, subunit 5 (HAUS5), mRNA.	325					cell division|centrosome organization|mitosis|spindle assembly	HAUS complex|centrosome|microtubule|spindle				NS(1)|breast(2)|cervix(3)|endometrium(1)|large_intestine(2)|lung(5)|skin(2)	16						CTCCAGGGCCTGGTGGAGGAG	0.662000														44			5		0	0	1	0	0
C16orf93	90835	broad.mit.edu	37	16	30770336	30770336	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:30770336G>A	uc002dzm.3	-	7	1310	c.814C>T	c.(814-816)Cca>Tca	p.P272S	PHKG2_uc021tgo.1_Intron|PHKG2_uc002dzk.2_3'UTR|C16orf93_uc002dzo.3_Missense_Mutation_p.P235S|C16orf93_uc021tgp.1_Missense_Mutation_p.A158V|RNF40_uc010caa.3_5'Flank|RNF40_uc002dzq.3_5'Flank|RNF40_uc010cab.3_5'Flank|RNF40_uc010vfa.2_5'Flank	NM_001014979	NP_001014979	A1A4V9	CP093_HUMAN	Homo sapiens chromosome 16 open reading frame 93 (C16orf93), transcript variant 1, mRNA.	272										breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(6)	11						TCCTCACTTGGCTCTGGCTCT	0.517000														78			72		0	0	1	0	0
CHN2	1124	broad.mit.edu	37	7	29552185	29552185	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:29552185C>T	uc003szz.3	+	12	1678	c.1241C>T	c.(1240-1242)aCt>aTt	p.T414I	CHN2_uc011jzs.2_Missense_Mutation_p.T489I|CHN2_uc010kva.3_Silent_p.L103L|CHN2_uc010kvb.3_Non-coding_Transcript|CHN2_uc010kvc.3_Missense_Mutation_p.T379I|CHN2_uc011jzt.2_Missense_Mutation_p.T427I|CHN2_uc010kvd.3_Missense_Mutation_p.T270I|CHN2_uc011jzu.2_Missense_Mutation_p.T399I|CHN2_uc010kvh.3_Missense_Mutation_p.T174I|CHN2_uc010kvi.3_Missense_Mutation_p.T206I|CHN2_uc010kve.3_Silent_p.L197L|CHN2_uc003taa.3_Missense_Mutation_p.T278I|CHN2_uc010kvf.3_Missense_Mutation_p.T220I|CHN2_uc010kvg.3_Missense_Mutation_p.T232I|CHN2_uc010kvj.3_Missense_Mutation_p.T187I|CHN2_uc010kvk.3_Missense_Mutation_p.T89I|CHN2_uc010kvl.3_Non-coding_Transcript|CHN2_uc010kvm.3_Missense_Mutation_p.T233I|CHN2_uc011jzv.2_Missense_Mutation_p.T207I	NM_004067	NP_004058	P52757	CHIO_HUMAN	Homo sapiens chimerin (chimaerin) 2 (CHN2), transcript variant 2, mRNA.	414	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|membrane	GTPase activator activity|SH3/SH2 adaptor activity|metal ion binding			breast(2)|endometrium(3)|large_intestine(2)|lung(12)|ovary(2)|urinary_tract(2)	23						TGCAGGGTTACTATGAATGAA	0.423000														52			18		0	0	1	0	0
RWDD2B	10069	broad.mit.edu	37	21	30380277	30380277	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:30380277C>T	uc002yms.3	-	3	617	c.530G>A	c.(529-531)gGa>gAa	p.G177E		NM_016940	NP_058636	P57060	RWD2B_HUMAN	Homo sapiens RWD domain containing 2B (RWDD2B), mRNA.	177										endometrium(1)|kidney(1)|large_intestine(8)|lung(2)	12						GACTGTGCTTCCTGTGGTGGG	0.443000														88			5		0	0	1	0	0
FIGN	55137	broad.mit.edu	37	2	164468291	164468291	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:164468291C>A	uc002uck.1	-	2	362	c.51G>T	c.(49-51)gaG>gaT	p.E17D		NM_018086	NP_060556	Q5HY92	FIGN_HUMAN	Homo sapiens fidgetin (FIGN), mRNA.	17						nuclear matrix	ATP binding|nucleoside-triphosphatase activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						ACTGGGCATGCTCTGGCGTCC	0.478000														34			19		1.00905e-13	1.25782e-13	1	1	0
IFNAR2	3455	broad.mit.edu	37	21	34635762	34635762	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:34635762C>A	uc002yrd.3	+	8	1833	c.1505C>A	c.(1504-1506)tCt>tAt	p.S502Y	IFNAR2_uc002yre.3_Missense_Mutation_p.S502Y|IFNAR2_uc002yrf.3_3'UTR|IFNAR2_uc002yri.1_Intron|IFNAR2_uc002yrh.1_Intron|IFNAR2_uc002yrk.1_5'Flank	NM_207585	NP_997468	P48551	INAR2_HUMAN	Homo sapiens interferon (alpha, beta and omega) receptor 2 (IFNAR2), transcript variant 1, mRNA.	502					JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to interferon-alpha|response to virus|type I interferon-mediated signaling pathway	extracellular region|extracellular space|integral to plasma membrane	protein kinase binding|type I interferon binding|type I interferon receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	11					Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)	AGTGACACTTCTGAGTCAGAT	0.493000														89			7		0.0293803	0.0299714	1	1	0
SCN8A	6334	broad.mit.edu	37	12	52159663	52159663	+	Missense_Mutation	SNP	A	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:52159663A>T	uc001ryw.3	+	15	2931	c.2753A>T	c.(2752-2754)cAt>cTt	p.H918L	SCN8A_uc010snl.2_Missense_Mutation_p.H918L|SCN8A_uc001ryy.2_Missense_Mutation_p.H783L	NM_014191	NP_055006	Q9UQD0	SCN8A_HUMAN	Homo sapiens sodium channel, voltage gated, type VIII, alpha subunit (SCN8A), transcript variant 1, mRNA.	918					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	CCTCGCTGGCATATGCATGAC	0.502000														159			23		0	0	1	0	0
INPP5D	3635	broad.mit.edu	37	2	234113059	234113059	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:234113059G>A	uc010zmo.2	+	24	3329	c.3176G>A	c.(3175-3177)tGc>tAc	p.C1059Y	INPP5D_uc010zmp.2_Missense_Mutation_p.C1058Y	NM_001017915	NP_001017915	Q92835	SHIP1_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase, 145kDa (INPP5D), transcript variant 1, mRNA.	1088	Pro-rich.				T cell receptor signaling pathway|apoptosis|blood coagulation|leukocyte migration	cytosol	SH3 domain binding|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		TCCTTCACGTGCTCATCCTCT	0.721000														18			7		0	0	1	0	0
YIPF6	286451	broad.mit.edu	37	X	67731767	67731767	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:67731767G>A	uc004dwz.3	+	1	419	c.134G>A	c.(133-135)cGc>cAc	p.R45H	YIPF6_uc011mph.2_Intron	NM_173834	NP_776195	Q96EC8	YIPF6_HUMAN	Homo sapiens Yip1 domain family, member 6 (YIPF6), transcript variant A, mRNA.	45						endoplasmic reticulum|integral to membrane				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(1)	7						ATGAGATCTCGCATCCGGGAG	0.423000														92			48		0	0	1	0	0
MTR	4548	broad.mit.edu	37	1	237025635	237025635	+	Nonsense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:237025635G>T	uc001hyi.4	+	20	2719	c.2296G>T	c.(2296-2298)Gaa>Taa	p.E766*	MTR_uc010pxw.2_Nonsense_Mutation_p.E359*|MTR_uc010pxx.2_Nonsense_Mutation_p.E715*|MTR_uc010pxy.2_Nonsense_Mutation_p.E620*	NM_000254	NP_000245	Q99707	METH_HUMAN	Homo sapiens 5-methyltetrahydrofolate-homocysteine methyltransferase (MTR), mRNA.	766					nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	CGGCACAGTAGAAGAAGAGGC	0.493000														93			6		0.00116845	0.00123466	1	1	0
CDH19	28513	broad.mit.edu	37	18	64211990	64211990	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:64211990T>C	uc002lkc.1	-	5	1064	c.926A>G	c.(925-927)cAt>cGt	p.H309R	CDH19_uc010dql.1_Non-coding_Transcript|CDH19_uc010xey.1_Missense_Mutation_p.H309R|CDH19_uc002lkd.3_Missense_Mutation_p.H309R	NM_021153	NP_066976	Q9H159	CAD19_HUMAN	Homo sapiens cadherin 19, type 2 (CDH19), mRNA.	309	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				TTGAGTTTCATGATTAGTAAT	0.303000														16			9		0	0	1	0	0
KLHL17	339451	broad.mit.edu	37	1	898614	898614	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:898614C>T	uc001aca.2	+	6	1275	c.1168C>T	c.(1168-1170)Cgg>Tgg	p.R390W	KLHL17_uc001acc.2_Non-coding_Transcript|KLHL17_uc010nyb.1_Silent_p.T138T	NM_198317	NP_938073	Q6TDP4	KLH17_HUMAN	Homo sapiens kelch-like 17 (Drosophila) (KLHL17), mRNA.	390	Interaction with F-actin (By similarity).				actin cytoskeleton organization	actin cytoskeleton|cell junction|postsynaptic density|postsynaptic membrane	protein complex scaffold			central_nervous_system(1)|kidney(2)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.52e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.59e-23)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000469)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GGTGGGGAACCGGCTCTATGC	0.687000														10			9		0	0	1	0	0
IDH3G	3421	broad.mit.edu	37	X	153055715	153055715	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153055715C>T	uc004fip.3	-	3	354	c.168G>A	c.(166-168)acG>acA	p.T56T	IDH3G_uc004fiq.3_Silent_p.T56T|IDH3G_uc004fit.1_Silent_p.T56T|IDH3G_uc004fiu.3_5'Flank	NM_004135	NP_004126	P51553	IDH3G_HUMAN	Homo sapiens isocitrate dehydrogenase 3 (NAD+) gamma (IDH3G), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	56					carbohydrate metabolic process|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleolus	ATP binding|NAD binding|isocitrate dehydrogenase (NAD+) activity|magnesium ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)	17	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)				NADH(DB00157)	TCATGGTCACCGTGTGCCGCC	0.657000														22			7		0	0	1	0	0
ZC2HC1A	51101	broad.mit.edu	37	8	79590894	79590894	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:79590894G>T	uc003ybd.3	+	2	292	c.190G>T	c.(190-192)Gta>Tta	p.V64L		NM_016010	NP_057094	Q96GY0	F164A_HUMAN	Homo sapiens family with sequence similarity 164, member A (FAM164A), mRNA.	64																	TATTCCAACAGTAAAACCTCT	0.353000														125			8		0.00307968	0.00322291	1	1	0
DEFB126	81623	broad.mit.edu	37	20	126110	126110	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:126110G>A	uc002wcx.3	+	1	131	c.113G>A	c.(112-114)tGc>tAc	p.C38Y		NM_030931	NP_112193	Q9BYW3	DB126_HUMAN	Homo sapiens defensin, beta 126 (DEFB126), mRNA.	38					defense response to bacterium	extracellular region				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)	4		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.122)			AAGAAGAAGTGCAAACCTGAA	0.383000														32			38		0	0	1	0	0
SGK1	6446	broad.mit.edu	37	6	134491471	134491471	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:134491471C>T	uc003qen.4	-	11	1320	c.1231G>A	c.(1231-1233)Gtc>Atc	p.V411I	SGK1_uc003qeo.4_Missense_Mutation_p.V506I|SGK1_uc011ect.2_Missense_Mutation_p.V401I|SGK1_uc011ecu.2_Missense_Mutation_p.V367I|SGK1_uc011ecv.2_Missense_Mutation_p.V425I|SGK1_uc011ecw.2_Missense_Mutation_p.V439I	NM_005627	NP_005618	O00141	SGK1_HUMAN	Homo sapiens serum/glucocorticoid regulated kinase 1 (SGK1), transcript variant 1, mRNA.	411	AGC-kinase C-terminal.				apoptosis|response to stress|sodium ion transport	endoplasmic reticulum|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)		GCTTCCTTGACGCTGGCTGTG	0.552000														13			14		0	0	1	0	0
SLC22A15	55356	broad.mit.edu	37	1	116563484	116563484	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:116563484C>T	uc001egb.4	+	3	706	c.576C>T	c.(574-576)ggC>ggT	p.G192G	SLC22A15_uc001ega.2_Silent_p.G192G	NM_018420	NP_060890	Q8IZD6	S22AF_HUMAN	Homo sapiens solute carrier family 22, member 15 (SLC22A15), mRNA.	192					ion transport	integral to membrane	transmembrane transporter activity			endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|urinary_tract(1)	17	Lung SC(450;0.184)	all_cancers(81;3.17e-06)|all_epithelial(167;2.32e-06)|all_lung(203;9.81e-06)|Lung NSC(69;5.94e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		AATGTGTGGGCACCGCCTACT	0.498000											OREG0013699	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		44			18		0	0	1	0	0
KIAA1549	57670	broad.mit.edu	37	7	138603183	138603183	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:138603183A>G	uc011kql.2	-	1	1238	c.1189T>C	c.(1189-1191)Tca>Cca	p.S397P	KIAA1549_uc011kqj.2_Missense_Mutation_p.S397P	NM_001164665	NP_001158137	Q9HCM3	K1549_HUMAN	Homo sapiens KIAA1549 (KIAA1549), transcript variant 2, mRNA.	397						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						GGGAGGGCTGAATTGCTATGC	0.522000			O	BRAF	pilocytic astrocytoma									90			6		0	0	1	0	0
PCNXL2	80003	broad.mit.edu	37	1	233314861	233314861	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:233314861C>T	uc001hvl.2	-	15	3362	c.3127G>A	c.(3127-3129)Gcc>Acc	p.A1043T	PCNXL2_uc001hvm.1_Non-coding_Transcript|PCNXL2_uc009xfu.3_Non-coding_Transcript|PCNXL2_uc001hvp.1_Non-coding_Transcript|PCNXL2_uc009xfv.1_Non-coding_Transcript	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA.	1043						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				TAAGAAAGGGCGACCAAGAGG	0.527000														39			14		0	0	1	0	0
CUL3	8452	broad.mit.edu	37	2	225365132	225365132	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:225365132G>A	uc010fwy.1	-	10	1629	c.1576C>T	c.(1576-1578)Cca>Tca	p.P526S	CUL3_uc010zls.1_Missense_Mutation_p.P454S|CUL3_uc002vny.2_Missense_Mutation_p.P520S	NM_003590	NP_003581	Q13618	CUL3_HUMAN	Homo sapiens cullin 3 (CUL3), mRNA.	520					G1/S transition of mitotic cell cycle|cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule	ubiquitin protein ligase binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		TTGCACTTTGGTGTGGCTGAC	0.428000														78			44		0	0	1	0	0
SOX6	55553	broad.mit.edu	37	11	16340160	16340160	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:16340160G>A	uc001mme.3	-	2	349	c.316C>T	c.(316-318)Cga>Tga	p.R106*	SOX6_uc001mmd.3_Nonsense_Mutation_p.R96*|SOX6_uc001mmf.3_Nonsense_Mutation_p.R93*|SOX6_uc001mmg.3_Nonsense_Mutation_p.R93*|SOX6_uc001mmh.1_Non-coding_Transcript|SOX6_uc009ygs.2_Non-coding_Transcript|SOX6_uc001mmi.3_Nonsense_Mutation_p.R93*|SOX6_uc001mmj.3_Nonsense_Mutation_p.R93*	NM_001145819	NP_001139291	P35712	SOX6_HUMAN	Homo sapiens SRY (sex determining region Y)-box 6 (SOX6), transcript variant 4, mRNA.	93					muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity	p.S106I(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						GAGGTATTTCGGAAGGAATAT	0.408000														129			13		0	0	1	0	0
LHFPL1	340596	broad.mit.edu	37	X	111914520	111914520	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:111914520G>T	uc004epp.3	-	0	241	c.168C>A	c.(166-168)ctC>ctA	p.L56L	LHFPL1_uc004epq.3_Silent_p.L33L|LHFPL1_uc010nqa.3_Intron|LHFPL1_uc010nqb.3_Silent_p.L33L	NM_178175	NP_835469	Q86WI0	LHPL1_HUMAN	Homo sapiens lipoma HMGIC fusion partner-like 1 (LHFPL1), mRNA.	33						integral to membrane		p.R55W(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)	13						GGGATCCAAAGAGCCAGTAAG	0.547000														202			14		1.36491e-13	1.70018e-13	1	1	0
RNF10	9921	broad.mit.edu	37	12	120995185	120995185	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:120995185T>C	uc001typ.4	+	4	1229	c.746T>C	c.(745-747)aTc>aCc	p.I249T	RNF10_uc010szk.2_Non-coding_Transcript|RNF10_uc001tyq.4_Missense_Mutation_p.I155T	NM_014868	NP_055683	Q8N5U6	RNF10_HUMAN	Homo sapiens ring finger protein 10 (RNF10), mRNA.	249					negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	27	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TGGGCATGCATCCTGCACTAT	0.468000														125			9		0	0	1	0	0
NELL2	4753	broad.mit.edu	37	12	45269650	45269650	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:45269650C>A	uc010skz.1	-	1	278	c.153G>T	c.(151-153)atG>atT	p.M51I	NELL2_uc001rof.3_5'Flank|NELL2_uc001rog.2_Missense_Mutation_p.M1I|NELL2_uc001roh.2_Missense_Mutation_p.M1I|NELL2_uc009zkd.2_5'UTR|NELL2_uc010sla.1_Missense_Mutation_p.M24I|NELL2_uc001roi.1_Missense_Mutation_p.M1I|NELL2_uc010slb.1_5'UTR|NELL2_uc001roj.2_Missense_Mutation_p.M1I	NM_001145107	NP_006150	Q99435	NELL2_HUMAN	Homo sapiens NEL-like 2 (chicken) (NELL2), transcript variant 1, mRNA.	1	TSP N-terminal.				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		CCCGAGACTCCATGGTGCGGA	0.502000														56			32		1.08312e-15	1.366e-15	1	1	0
TFAP4	7023	broad.mit.edu	37	16	4322672	4322672	+	Nonsense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:4322672C>A	uc010uxg.2	-	0	330	c.76G>T	c.(76-78)Gga>Tga	p.G26*		NM_003223	NP_003214	Q01664	TFAP4_HUMAN	Homo sapiens transcription factor AP-4 (activating enhancer binding protein 4) (TFAP4), mRNA.	26					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation by host of viral transcription|negative regulation of DNA binding|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|regulation of S phase of mitotic cell cycle	transcriptional repressor complex	E-box binding|histone deacetylase binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|endometrium(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	14						CAGAGCCCTCCTATCACTTCT	0.622000														18			6		3.59834e-05	3.95114e-05	1	1	0
SEL1L3	23231	broad.mit.edu	37	4	25819872	25819872	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:25819872G>A	uc003gru.4	-	8	1604	c.1452C>T	c.(1450-1452)ctC>ctT	p.L484L		NM_015187	NP_056002	Q68CR1	SE1L3_HUMAN	Homo sapiens sel-1 suppressor of lin-12-like 3 (C. elegans) (SEL1L3), mRNA.	484						integral to membrane	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						ACCTGCGCTGGAGGTCCAGGT	0.547000														4			5		0	0	1	0	0
BRWD3	254065	broad.mit.edu	37	X	79973207	79973207	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:79973207C>T	uc004edt.3	-	18	2359	c.2096G>A	c.(2095-2097)cGa>cAa	p.R699Q	BRWD3_uc010nmi.2_Non-coding_Transcript|BRWD3_uc004edp.3_Missense_Mutation_p.R528Q|BRWD3_uc004edq.3_Missense_Mutation_p.R295Q|BRWD3_uc010nmj.2_Missense_Mutation_p.R295Q|BRWD3_uc004edr.3_Missense_Mutation_p.R369Q|BRWD3_uc004eds.3_Missense_Mutation_p.R295Q|BRWD3_uc004edo.3_Missense_Mutation_p.R295Q|BRWD3_uc004edu.3_Missense_Mutation_p.R369Q|BRWD3_uc004edv.3_Missense_Mutation_p.R295Q|BRWD3_uc004edw.3_Missense_Mutation_p.R295Q|BRWD3_uc004edx.3_Missense_Mutation_p.R295Q|BRWD3_uc004edy.3_Missense_Mutation_p.R295Q|BRWD3_uc004edz.3_Missense_Mutation_p.R369Q|BRWD3_uc004eea.3_Missense_Mutation_p.R369Q|BRWD3_uc004eeb.3_Missense_Mutation_p.R295Q	NM_153252	NP_694984	Q6RI45	BRWD3_HUMAN	Homo sapiens bromodomain and WD repeat domain containing 3 (BRWD3), mRNA.	699										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						ACTATGTCTTCGAAGCCTGAT	0.423000														59			33		0	0	1	0	0
POLR2A	5430	broad.mit.edu	37	17	7399865	7399865	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7399865G>T	uc002ghf.4	+	3	856	c.470G>T	c.(469-471)gGg>gTg	p.G157V	POLR2A_uc002ghe.3_Missense_Mutation_p.G157V	NM_000937	NP_000928	P24928	RPB1_HUMAN	Homo sapiens polymerase (RNA) II (DNA directed) polypeptide A, 220kDa (POLR2A), mRNA.	157					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|RNA-directed RNA polymerase activity|metal ion binding|ubiquitin protein ligase binding			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				TGCGAGGGTGGGGAGGAGATG	0.532000														133			12		1.49906e-05	1.66078e-05	1	1	0
RABL2A	11159	broad.mit.edu	37	2	114399652	114399652	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:114399652A>G	uc002tks.4	+	9	777	c.636A>G	c.(634-636)gaA>gaG	p.E212E	RABL2A_uc002tkn.4_Silent_p.E211E|RABL2A_uc010flb.3_Silent_p.E211E|RABL2A_uc002tkm.4_Silent_p.E148E|RABL2A_uc002tkr.3_Silent_p.E212E|RABL2A_uc002tkp.4_Silent_p.E212E	NM_013412	NP_038198	Q9UBK7	RBL2A_HUMAN	Homo sapiens RAB, member of RAS oncogene family-like 2A (RABL2A), transcript variant 1, mRNA.	211					small GTPase mediated signal transduction		GTP binding|GTPase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|stomach(3)	9						CAGACCAGGAACAGAGCAGCA	0.602000														21			15		0	0	1	0	0
KDM5C	8242	broad.mit.edu	37	X	53239948	53239948	+	Missense_Mutation	SNP	T	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:53239948T>A	uc004drz.3	-	10	2026	c.1493A>T	c.(1492-1494)aAg>aTg	p.K498M	KDM5C_uc022bxe.1_Missense_Mutation_p.K431M|KDM5C_uc004dsa.3_Missense_Mutation_p.K497M	NM_004187	NP_004178	P41229	KDM5C_HUMAN	Homo sapiens lysine (K)-specific demethylase 5C (KDM5C), transcript variant 1, mRNA.	498	JmjC.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding	p.K498R(3)|p.K431R(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						CCAGGGCACCTTCATGCCAGA	0.507000			"""N, F, S"""		clear cell renal carcinoma									39			7		0	0	1	0	0
SYNCRIP	10492	broad.mit.edu	37	6	86332297	86332297	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:86332297C>T	uc003pla.2	-	7	1452	c.911G>A	c.(910-912)cGt>cAt	p.R304H	SYNCRIP_uc003pku.3_Missense_Mutation_p.R304H|SYNCRIP_uc003pkv.3_Missense_Mutation_p.R304H|SYNCRIP_uc003pkw.3_Intron|SYNCRIP_uc003pkx.3_Missense_Mutation_p.R152H|SYNCRIP_uc003pky.3_Missense_Mutation_p.R206H|SYNCRIP_uc003pkz.2_Intron	NM_006372	NP_006363	O60506	HNRPQ_HUMAN	Homo sapiens synaptotagmin binding, cytoplasmic RNA interacting protein (SYNCRIP), transcript variant 1, mRNA.	304	RRM 2.				CRD-mediated mRNA stabilization|interspecies interaction between organisms	CRD-mediated mRNA stability complex|catalytic step 2 spliceosome|endoplasmic reticulum|histone pre-mRNA 3'end processing complex|microsome|nucleoplasm	nucleotide binding|protein binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)		BRCA - Breast invasive adenocarcinoma(108;0.0389)		CATTAACCTACGCCTTGCCTG	0.433000														194			83		0	0	1	0	0
MINK1	50488	broad.mit.edu	37	17	4799092	4799092	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:4799092T>C	uc010vsl.2	+	26	3573	c.3329T>C	c.(3328-3330)gTg>gCg	p.V1110A	MINK1_uc010vsk.2_Missense_Mutation_p.V1081A|MINK1_uc010vsm.2_Missense_Mutation_p.V1090A|MINK1_uc010vsn.2_Missense_Mutation_p.V1073A|MINK1_uc010vso.2_Missense_Mutation_p.V1018A|MINK1_uc010vsp.2_Missense_Mutation_p.V571A	NM_153827	NP_722549	Q8N4C8	MINK1_HUMAN	Homo sapiens misshapen-like kinase 1 (MINK1), transcript variant 3, mRNA.	1110	CNH.|Mediates interaction with RAP2A.				JNK cascade	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						TGGACCACCGTGGGGGACATG	0.552000														18			7		0	0	1	0	0
STK31	56164	broad.mit.edu	37	7	23830448	23830448	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:23830448G>T	uc003sws.4	+	21	2710	c.2643G>T	c.(2641-2643)caG>caT	p.Q881H	STK31_uc003swt.4_Missense_Mutation_p.Q858H|STK31_uc011jze.2_Missense_Mutation_p.Q881H|STK31_uc010kuq.3_Missense_Mutation_p.Q858H|STK31_uc003swv.1_Missense_Mutation_p.Q47H	NM_031414	NP_116562	Q9BXU1	STK31_HUMAN	Homo sapiens serine/threonine kinase 31 (STK31), transcript variant 1, mRNA.	881	Protein kinase.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TGCAGAGTCAGCGAGCCTCGG	0.378000														74			6		1.6384e-10	1.98099e-10	1	1	0
GABRA3	2556	broad.mit.edu	37	X	151424261	151424261	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:151424261G>T	uc010ntk.1	-	4	780	c.540C>A	c.(538-540)ctC>ctA	p.L180L		NM_000808	NP_000799	P34903	GBRA3_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 3 (GABRA3), mRNA.	180				L -> P (in Ref. 3; AAH28629).	gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|protein binding	p.L180L(2)|p.L70L(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TCATTGTATAGAGGAGGGTTC	0.478000														107			9		2.80697e-09	3.3309e-09	1	1	0
ZNF281	23528	broad.mit.edu	37	1	200377831	200377831	+	Missense_Mutation	SNP	G	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:200377831G>C	uc001gve.3	-	1	1110	c.1003C>G	c.(1003-1005)Cac>Gac	p.H335D	ZNF281_uc001gvf.1_Missense_Mutation_p.H335D|ZNF281_uc001gvg.1_Missense_Mutation_p.H299D|ZNF281_uc021phb.1_Missense_Mutation_p.H335D	NM_012482	NP_036614	Q9Y2X9	ZN281_HUMAN	Homo sapiens zinc finger protein 281 (ZNF281), mRNA.	335					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	27						GTCCTCTTGTGTCTCTCCATA	0.408000														291			21		0	0	1	0	0
DHX33	56919	broad.mit.edu	37	17	5347651	5347651	+	Silent	SNP	G	A	A	rs111628161		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:5347651G>A	uc002gca.3	-	11	2199	c.1998C>T	c.(1996-1998)gtC>gtT	p.V666V	DHX33_uc002gbz.3_Silent_p.V437V|DHX33_uc002gcb.3_Silent_p.V493V|DHX33_uc010clf.3_Silent_p.V501V	NM_020162	NP_001186628	Q9H6R0	DHX33_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 33 (DHX33), transcript variant 1, mRNA.	666						nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						CAGTGTACACGACGCAGGCCG	0.597000														34			12		0	0	1	0	0
PFKFB2	5208	broad.mit.edu	37	1	207240872	207240872	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:207240872G>A	uc001hfg.3	+	8	770	c.661G>A	c.(661-663)Gtg>Atg	p.V221M	PFKFB2_uc010psc.2_Missense_Mutation_p.V123M|PFKFB2_uc001hfh.3_Missense_Mutation_p.V221M|PFKFB2_uc009xcc.3_Missense_Mutation_p.V179M|PFKFB2_uc010psd.2_Missense_Mutation_p.V35M	NM_006212	NP_006203	O60825	F262_HUMAN	Homo sapiens 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2 (PFKFB2), transcript variant 1, mRNA.	221	6-phosphofructo-2-kinase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	20	Prostate(682;0.19)					GGTGATAAACGTGGGCCAGCG	0.428000														80			9		0	0	1	0	0
ARHGAP31	57514	broad.mit.edu	37	3	119128599	119128599	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:119128599C>T	uc003ecj.4	+	10	2434	c.1902C>T	c.(1900-1902)gcC>gcT	p.A634A		NM_020754	NP_065805	Q2M1Z3	RHG31_HUMAN	Homo sapiens Rho GTPase activating protein 31 (ARHGAP31), mRNA.	634					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						GGGCCAGAGCCGAAGCTGTGC	0.532000														8			4		0	0	1	0	0
ST7	7982	broad.mit.edu	37	7	116862958	116862958	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:116862958G>A	uc003vin.3	+	15	1896	c.1682G>A	c.(1681-1683)tGc>tAc	p.C561Y	ST7_uc011knl.2_Missense_Mutation_p.C538Y|ST7_uc003vio.3_Intron|ST7_uc003viq.3_Intron|ST7_uc011knm.2_Intron|ST7_uc003vir.3_Intron	NM_021908	NP_068708	Q9NRC1	ST7_HUMAN	Homo sapiens suppression of tumorigenicity 7 (ST7), transcript variant b, mRNA.	561						integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(1)	21	all_cancers(3;3.88e-07)|all_epithelial(6;3.42e-07)|Lung NSC(10;0.00072)|all_lung(10;0.000847)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		GACTGGAATTGCAAGAGTATT	0.448000														146			14		0	0	1	0	0
DDI1	414301	broad.mit.edu	37	11	103908442	103908442	+	Missense_Mutation	SNP	A	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:103908442A>T	uc001phr.2	+	0	1135	c.892A>T	c.(892-894)Att>Ttt	p.I298F	PDGFD_uc001php.3_Intron|PDGFD_uc001phq.3_Intron	NM_001001711	NP_001001711	Q8WTU0	DDI1_HUMAN	Homo sapiens DNA-damage inducible 1 homolog 1 (S. cerevisiae) (DDI1), mRNA.	298					proteolysis		aspartic-type endopeptidase activity			central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		CACACAGAGAATTATTGGCCG	0.488000														53			7		0	0	1	0	0
C17orf47	284083	broad.mit.edu	37	17	56621448	56621448	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:56621448C>T	uc002iwq.2	-	0	286	c.100G>A	c.(100-102)Gtt>Att	p.V34I		NM_001038704	NP_001033793	Q8NEP4	CQ047_HUMAN	Homo sapiens chromosome 17 open reading frame 47 (C17orf47), mRNA.	34										NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	24	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GAGGCAAGAACGTACCCATGT	0.532000														43			31		0	0	1	0	0
TCF21	6943	broad.mit.edu	37	6	134210781	134210781	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:134210781C>T	uc003qei.4	+	0	523	c.246C>T	c.(244-246)aaC>aaT	p.N82N	BC041459_uc003qeg.1_5'Flank|TCF21_uc003qej.2_Silent_p.N82N	NM_003206	NP_938206	O43680	TCF21_HUMAN	Homo sapiens transcription factor 21 (TCF21), transcript variant 2, mRNA.	82					branching involved in ureteric bud morphogenesis|mesoderm development|negative regulation of androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus	E-box binding|androgen receptor binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	p.N82N(2)		cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	13	Colorectal(23;0.221)|Breast(56;0.247)			GBM - Glioblastoma multiforme(68;0.00518)|OV - Ovarian serous cystadenocarcinoma(155;0.00783)		TCCAGCGCAACGCCGCCAACG	0.701000														26			14		0	0	1	0	0
CNIH3	149111	broad.mit.edu	37	1	224872497	224872497	+	Splice_Site	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:224872497G>A	uc001hos.1	+	3	849	c.151_splice	c.e3-1	p.R51_splice		NM_152495	NP_689708	Q8TBE1	CNIH3_HUMAN	Homo sapiens cornichon homolog 3 (Drosophila) (CNIH3), mRNA.	51					intracellular signal transduction|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic shaft|postsynaptic membrane				large_intestine(5)|lung(4)	9	Breast(184;0.218)			GBM - Glioblastoma multiforme(131;0.073)		CATCCTGATAGAGGGAACGGT	0.542000														56			29		0	0	1	0	0
PRPF8	10594	broad.mit.edu	37	17	1578988	1578988	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:1578988C>T	uc002fte.3	-	18	2912	c.2798G>A	c.(2797-2799)cGc>cAc	p.R933H		NM_006445	NP_006436	Q6P2Q9	PRP8_HUMAN	Homo sapiens PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae) (PRPF8), mRNA.	933						U5 snRNP|catalytic step 2 spliceosome|nuclear speck	RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		GAACAGGCGGCGCTTGTCGGC	0.512000														125			92		0	0	1	0	0
WIPI2	26100	broad.mit.edu	37	7	5232791	5232791	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:5232791C>T	uc003snv.3	+	1	333	c.117C>T	c.(115-117)cgC>cgT	p.R39R	WIPI2_uc003snw.3_Silent_p.R39R|WIPI2_uc003snx.3_Intron|WIPI2_uc003sny.3_Intron|WIPI2_uc010ksv.3_5'UTR	NM_015610	NP_056425	Q9Y4P8	WIPI2_HUMAN	Homo sapiens WD repeat domain, phosphoinositide interacting 2 (WIPI2), transcript variant 1, mRNA.	39					autophagic vacuole assembly	PAS complex|cytosol|pre-autophagosomal structure membrane	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)	16		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0925)|OV - Ovarian serous cystadenocarcinoma(56;2.59e-14)		TTGGCCGTCGCGCTGTTGTCT	0.388000														150			11		0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55542081	55542081	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:55542081C>A	uc003xsd.1	+	3	5787	c.5639C>A	c.(5638-5640)cCt>cAt	p.P1880H	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	1880					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	p.P1880L(2)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			AAAGTCTACCCTGTCTCTGAT	0.398000														65			5		0.184627	0.186034	1	1	0
HPS6	79803	broad.mit.edu	37	10	103827248	103827248	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:103827248C>T	uc001kuj.3	+	0	2125	c.2017C>T	c.(2017-2019)Ctg>Ttg	p.L673L		NM_024747	NP_079023	Q86YV9	HPS6_HUMAN	Homo sapiens Hermansky-Pudlak syndrome 6 (HPS6), mRNA.	673						cytosol|early endosome membrane|endoplasmic reticulum|microsome				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)	11		Colorectal(252;0.122)		Epithelial(162;5.93e-08)|all cancers(201;1.03e-06)		AATCTTCAAACTGCTGCTGGC	0.627000									Hermansky-Pudlak syndrome					40			24		0	0	1	0	0
FAR1	84188	broad.mit.edu	37	11	13743357	13743357	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:13743357C>T	uc001mld.3	+	9	1363	c.1208C>T	c.(1207-1209)aCt>aTt	p.T403I		NM_032228	NP_115604	Q8WVX9	FACR1_HUMAN	Homo sapiens fatty acyl CoA reductase 1 (FAR1), mRNA.	403					ether lipid biosynthetic process	integral to membrane|peroxisomal matrix|peroxisomal membrane	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13						GTTTGGAATACTGAGAATGTC	0.294000														31			20		0	0	1	0	0
LRFN4	78999	broad.mit.edu	37	11	66625589	66625589	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:66625589T>C	uc001ojr.3	+	0	714	c.374T>C	c.(373-375)cTc>cCc	p.L125P	PC_uc001ojo.1_Intron|PC_uc001ojp.1_Intron|PC_uc001ojn.1_Intron|LRFN4_uc001ojq.1_Missense_Mutation_p.L125P	NM_024036	NP_076941	Q6PJG9	LRFN4_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 4 (LRFN4), mRNA.	125						integral to membrane				breast(1)|lung(1)|prostate(1)	3						CTGCAGCACCTCATCCTCAGC	0.662000														55			5		0	0	1	0	0
FDFT1	2222	broad.mit.edu	37	8	11687765	11687765	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:11687765T>C	uc003wui.3	+	5	867	c.715T>C	c.(715-717)Tat>Cat	p.Y239H	FDFT1_uc003wuh.3_Missense_Mutation_p.Y175H|FDFT1_uc010lsa.1_Missense_Mutation_p.Y154H|FDFT1_uc011kxe.2_Missense_Mutation_p.Y175H|FDFT1_uc011kxf.2_Missense_Mutation_p.Y196H|FDFT1_uc011kxg.2_Missense_Mutation_p.Y72H|FDFT1_uc010lsb.3_Missense_Mutation_p.Y175H|FDFT1_uc011kxh.2_Missense_Mutation_p.Y175H|FDFT1_uc011kxi.2_Splice_Site|FDFT1_uc011kxj.2_Missense_Mutation_p.Y175H|FDFT1_uc022ary.1_Missense_Mutation_p.Y175H|FDFT1_uc011kxk.2_Missense_Mutation_p.Y154H	NM_004462	NP_004453	P37268	FDFT_HUMAN	Homo sapiens farnesyl-diphosphate farnesyltransferase 1 (FDFT1), mRNA.	239					cholesterol biosynthetic process|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	farnesyl-diphosphate farnesyltransferase activity|oxidoreductase activity|protein binding|squalene synthase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)	12	all_epithelial(15;0.234)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.18)		TTGGAGCAGGTATGTTAAGAA	0.423000														61			47		0	0	1	0	0
RSG1	79363	broad.mit.edu	37	1	16558674	16558674	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:16558674G>A	uc001ayd.3	-	4	1068	c.646C>T	c.(646-648)Cgc>Tgc	p.R216C		NM_030907	NP_112169	Q9BU20	RSG1_HUMAN	Homo sapiens REM2 and RAB-like small GTPase 1 (RSG1), mRNA.	216	Small GTPase-like.				cellular protein localization|cilium assembly|exocytosis|protein transport|regulation of exocytosis|regulation of vesicle fusion|small GTPase mediated signal transduction	cilium|microtubule basal body	GTP binding			large_intestine(2)|lung(2)|pancreas(1)|prostate(1)	6						TCCAGTGTGCGCCCATCAGCC	0.706000														21			12		0	0	1	0	0
TMEFF2	23671	broad.mit.edu	37	2	192863836	192863836	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:192863836G>A	uc002utc.3	-	5	1029	c.635C>T	c.(634-636)tCg>tTg	p.S212L		NM_016192	NP_057276	Q9UIK5	TEFF2_HUMAN	Homo sapiens transmembrane protein with EGF-like and two follistatin-like domains 2 (TMEFF2), mRNA.	212	Kazal-like 2.					extracellular region|integral to membrane				breast(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(12)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.0835)			TTTCTGACACGATGCTTCTTT	0.378000														75			55		0	0	1	0	0
C10orf12	26148	broad.mit.edu	37	10	98743924	98743924	+	Missense_Mutation	SNP	A	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:98743924A>T	uc001kmv.3	+	0	2884	c.2777A>T	c.(2776-2778)aAa>aTa	p.K926I		NM_015652	NP_056467	Q8N655	CJ012_HUMAN	Homo sapiens chromosome 10 open reading frame 12 (C10orf12), mRNA.	926										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		GAGCGCTTGAAAAAGCACTTG	0.473000														107			9		0	0	1	0	0
OR10AD1	121275	broad.mit.edu	37	12	48596366	48596366	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:48596366T>G	uc001rrl.1	-	0	710	c.710A>C	c.(709-711)aAg>aCg	p.K237T		NM_001004134	NP_001004134	Q8NGE0	O10AD_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily AD, member 1 (OR10AD1), mRNA.	237					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|urinary_tract(1)	9						AGAGAAAGTCTTCCCCCGACC	0.532000														21			12		0	0	1	0	0
HIF3A	64344	broad.mit.edu	37	19	46815864	46815864	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:46815864C>T	uc002peh.3	+	7	1010	c.979C>T	c.(979-981)Cgg>Tgg	p.R327W	HIF3A_uc002pef.2_3'UTR|HIF3A_uc002peg.4_Missense_Mutation_p.R327W|HIF3A_uc010xxx.2_Non-coding_Transcript|HIF3A_uc021uwf.1_Missense_Mutation_p.R271W|HIF3A_uc002pej.2_Missense_Mutation_p.R258W|HIF3A_uc010xxy.2_Missense_Mutation_p.R258W|HIF3A_uc002pel.3_Missense_Mutation_p.R325W|HIF3A_uc010xxz.2_Missense_Mutation_p.R276W	NM_152795	NP_690008	Q9Y2N7	HIF3A_HUMAN	Homo sapiens hypoxia inducible factor 3, alpha subunit (HIF3A), transcript variant 3, mRNA.	327					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		GTCAGGGGGACGGGGCCCCCA	0.617000														56			42		0	0	1	0	0
UBE2L6	9246	broad.mit.edu	37	11	57322034	57322034	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:57322034C>T	uc001nkn.2	-	2	282	c.186G>A	c.(184-186)ccG>ccA	p.P62P	UBE2L6_uc001nko.2_5'UTR	NM_004223	NP_937826	O14933	UB2L6_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2L 6 (UBE2L6), transcript variant 1, mRNA.	62					negative regulation of type I interferon production	cytosol	protein binding|ubiquitin-protein ligase activity			large_intestine(1)|lung(3)|ovary(1)	5						GAGGCTTGAACGGATACTCCG	0.537000														174			9		0	0	1	0	0
TGM4	7047	broad.mit.edu	37	3	44951682	44951682	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:44951682G>A	uc003coc.4	+	10	1501	c.1428G>A	c.(1426-1428)tcG>tcA	p.S476S		NM_003241	NP_003232	P49221	TGM4_HUMAN	Homo sapiens transglutaminase 4 (prostate) (TGM4), mRNA.	476					peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	TTCACATGTCGGTACAATCAG	0.483000														84			7		0	0	1	0	0
PCDHB14	56122	broad.mit.edu	37	5	140605187	140605187	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140605187T>C	uc003ljb.3	+	0	2110	c.2110T>C	c.(2110-2112)Tcg>Ccg	p.S704P		NM_018934	NP_061757	Q9Y5E9	PCDBE_HUMAN	Homo sapiens protocadherin beta 14 (PCDHB14), mRNA.	704					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTTCCTCTTCTCGGTGCTCCT	0.706000														133			7		0	0	1	0	0
SUSD2	56241	broad.mit.edu	37	22	24582270	24582270	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:24582270A>G	uc002zzn.1	+	9	1573	c.1529A>G	c.(1528-1530)gAg>gGg	p.E510G		NM_019601	NP_062547	Q9UGT4	SUSD2_HUMAN	Homo sapiens sushi domain containing 2 (SUSD2), mRNA.	510	VWFD.				immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						GCCGTCCAGGAGGGCAACTCA	0.652000														22			8		0	0	1	0	0
KNTC1	9735	broad.mit.edu	37	12	123067323	123067323	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:123067323G>A	uc001ucv.3	+	33	3217	c.3054G>A	c.(3052-3054)caG>caA	p.Q1018Q	KNTC1_uc010taf.2_Intron	NM_014708	NP_055523	P50748	KNTC1_HUMAN	Homo sapiens kinetochore associated 1 (KNTC1), mRNA.	1018					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		TCCGTGAGCAGCACATTAAAG	0.483000														17			11		0	0	1	0	0
FRS2	10818	broad.mit.edu	37	12	69964235	69964235	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:69964235G>A	uc001suy.3	+	6	701	c.191G>A	c.(190-192)cGc>cAc	p.R64H	FRS2_uc001suz.3_Missense_Mutation_p.R64H|FRS2_uc009zrj.3_Missense_Mutation_p.R64H|FRS2_uc009zrk.3_Missense_Mutation_p.R64H	NM_006654	NP_006645	Q8WU20	FRS2_HUMAN	Homo sapiens fibroblast growth factor receptor substrate 2 (FRS2), transcript variant 1, mRNA.	64	IRS-type PTB.				G-protein coupled receptor protein signaling pathway|activation of MAPKK activity|activation of phospholipase C activity|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|transmembrane receptor protein tyrosine phosphatase signaling pathway	endomembrane system|endosome|integral to plasma membrane|membrane fraction	fibroblast growth factor receptor binding|insulin receptor binding|phosphatase activator activity|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.94e-18)|Lung(24;9.68e-05)|OV - Ovarian serous cystadenocarcinoma(12;0.000984)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			TGCCTGCGACGCTATGGCTAT	0.403000														48			27		0	0	1	0	0
ZNF175	7728	broad.mit.edu	37	19	52091117	52091117	+	Silent	SNP	C	A	A	rs140917490		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:52091117C>A	uc002pxb.3	+	4	1911	c.1533C>A	c.(1531-1533)acC>acA	p.T511T		NM_007147	NP_009078	Q9Y473	ZN175_HUMAN	Homo sapiens zinc finger protein 175 (ZNF175), mRNA.	511					response to virus	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)		GTGGAAAAACCTTCACCCAAA	0.413000														25			15		1.5739e-10	1.90488e-10	1	1	0
IRF2BP1	26145	broad.mit.edu	37	19	46387584	46387584	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:46387584G>A	uc002pds.1	-	0	1793	c.1449C>T	c.(1447-1449)gcC>gcT	p.A483A		NM_015649	NP_056464	Q8IU81	I2BP1_HUMAN	Homo sapiens interferon regulatory factor 2 binding protein 1 (IRF2BP1), mRNA.	483					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				cervix(1)|kidney(1)|lung(2)	4		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231)		TGACAGCTTCGGCCCCCGCTG	0.716000														14			6		0	0	1	0	0
CIRH1A	84916	broad.mit.edu	37	16	69197064	69197064	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:69197064G>A	uc002ews.4	+	13	1726	c.1630G>A	c.(1630-1632)Gct>Act	p.A544T	CIRH1A_uc002ewr.2_Missense_Mutation_p.A544T|CIRH1A_uc002ewt.4_Missense_Mutation_p.A461T|CIRH1A_uc010cfi.3_Missense_Mutation_p.A346T	NM_032830	NP_116219	Q969X6	CIR1A_HUMAN	Homo sapiens cirrhosis, autosomal recessive 1A (cirhin) (CIRH1A), mRNA.	544						nucleolus	protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(108;0.125)		CCTTGTCATCGCTCATTCGGA	0.498000														82			55		0	0	1	0	0
MYO7A	4647	broad.mit.edu	37	11	76912592	76912592	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:76912592G>T	uc001oyb.2	+	35	5224	c.4952G>T	c.(4951-4953)gGc>gTc	p.G1651V	MYO7A_uc010rsm.1_Missense_Mutation_p.G1602V|MYO7A_uc001oyc.2_Missense_Mutation_p.G1613V|MYO7A_uc009yus.1_Non-coding_Transcript|MYO7A_uc009yut.1_Missense_Mutation_p.G823V|MYO7A_uc001oye.2_5'Flank	NM_000260	NP_000251	Q13402	MYO7A_HUMAN	Homo sapiens myosin VIIA (MYO7A), transcript variant 1, mRNA.	1651	SH3.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	ATP binding|actin binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						TGGGCCAACGGCATCAATGAG	0.607000														20			13		5.01169e-05	5.49149e-05	1	1	0
OR7E24	26648	broad.mit.edu	37	19	9361936	9361936	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9361936C>A	uc002mlb.1	+	0	217	c.217C>A	c.(217-219)Ctc>Atc	p.L73I		NM_001079935	NP_001073404	Q6IFN5	O7E24_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily E, member 24 (OR7E24), mRNA.	73					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						TGACTCCCACCTCCACACCCC	0.572000														36			8		2.17888e-05	2.40634e-05	1	1	0
E2F5	1875	broad.mit.edu	37	8	86124439	86124439	+	Splice_Site	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:86124439G>A	uc003ycz.4	+	7	968	c.931_splice	c.e7+1	p.V311_splice	E2F5_uc003yda.4_Splice_Site_p.V310_splice|E2F5_uc010mab.3_Splice_Site_p.V150_splice|AB209185_uc003ydc.1_5'Flank	NM_001951	NP_001077058	Q15329	E2F5_HUMAN	Homo sapiens E2F transcription factor 5, p130-binding (E2F5), transcript variant 1, mRNA.	311	Transactivation (Potential).				G1 phase of mitotic cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			NS(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	8						GTCTTCTGACGGTAAGTAGGT	0.294000														31			3		0	0	1	0	0
TMPRSS9	360200	broad.mit.edu	37	19	2416729	2416729	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:2416729C>A	uc010xgx.2	+	10	1837	c.1837C>A	c.(1837-1839)Ctg>Atg	p.L613M		NM_182973	NP_892018	Q7Z410	TMPS9_HUMAN	Homo sapiens transmembrane protease, serine 9 (TMPRSS9), mRNA.	613	Peptidase S1 2.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCTGTCTGCCTGCCCCTGGC	0.617000														26			5		1.23904e-05	1.3743e-05	1	1	0
ZFP106	64397	broad.mit.edu	37	15	42744114	42744114	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:42744114G>T	uc001zpw.3	-	1	614	c.287C>A	c.(286-288)tCt>tAt	p.S96Y	ZFP106_uc001zpv.3_Intron|ZFP106_uc001zpx.3_Intron|ZFP106_uc010udh.1_5'UTR|ZFP106_uc001zpy.1_Missense_Mutation_p.S119Y	NM_022473	NP_071918	Q9H2Y7	ZF106_HUMAN	Homo sapiens zinc finger protein 106 homolog (mouse) (ZFP106), mRNA.	96						nucleolus	zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	61		all_cancers(109;1.63e-12)|all_epithelial(112;3.97e-11)|Lung NSC(122;2.04e-07)|all_lung(180;8.31e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.6e-07)		TCTGTCATCAGAGTTTATTTC	0.438000														210			18		1.64113e-05	1.8176e-05	1	1	0
HEATR1	55127	broad.mit.edu	37	1	236722336	236722336	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:236722336T>C	uc001hyd.2	-	34	5022	c.4870A>G	c.(4870-4872)Aat>Gat	p.N1624D	HEATR1_uc009xgh.2_Missense_Mutation_p.N786D	NM_018072	NP_060542	Q9H583	HEAT1_HUMAN	Homo sapiens HEAT repeat containing 1 (HEATR1), mRNA.	1624					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			AGCTTGTTATTCAAAAGGTCC	0.483000														56			45		0	0	1	0	0
TMEM54	113452	broad.mit.edu	37	1	33360916	33360916	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:33360916C>T	uc001bwi.1	-	4	698	c.584G>A	c.(583-585)aGc>aAc	p.S195N	TMEM54_uc001bwj.1_Missense_Mutation_p.S142N|TMEM54_uc001bwk.1_Missense_Mutation_p.S175N	NM_033504	NP_277039	Q969K7	TMM54_HUMAN	Homo sapiens transmembrane protein 54 (TMEM54), mRNA.	195						integral to membrane				endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	6		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				CATGTGGTGGCTGCTTTTCCC	0.627000														13			7		0	0	1	0	0
USP7	7874	broad.mit.edu	37	16	9004625	9004625	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:9004625C>T	uc002czl.2	-	10	1337	c.1138G>A	c.(1138-1140)Gac>Aac	p.D380N	USP7_uc010uyk.1_Missense_Mutation_p.D281N|USP7_uc010uyj.1_Missense_Mutation_p.D281N|USP7_uc002czk.2_Missense_Mutation_p.D364N|USP7_uc010uyl.1_Non-coding_Transcript	NM_003470	NP_003461	Q93009	UBP7_HUMAN	Homo sapiens ubiquitin specific peptidase 7 (herpes virus-associated) (USP7), mRNA.	380					interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	PML body|cytoplasm	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.D380G(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						TCCCCAGCGTCGTATTTATTG	0.363000														28			29		0	0	1	0	0
NAPG	8774	broad.mit.edu	37	18	10540398	10540398	+	Splice_Site	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:10540398T>C	uc002kon.3	+	8	733	c.506_splice	c.e8+2	p.R169_splice	NAPG_uc010wzr.2_Splice_Site_p.R87_splice|NAPG_uc002kop.3_Splice_Site_p.R82_splice	NM_003826	NP_003817	Q99747	SNAG_HUMAN	Homo sapiens N-ethylmaleimide-sensitive factor attachment protein, gamma (NAPG), mRNA.	169					cellular membrane fusion|intra-Golgi vesicle-mediated transport|intracellular protein transport|protein complex assembly|protein stabilization	membrane|membrane fraction|mitochondrion	protein binding			large_intestine(2)|lung(2)	4						AGGACGTAGGTATGTCTTTAA	0.358000														26			29		0	0	1	0	0
MTMR8	55613	broad.mit.edu	37	X	63569916	63569916	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:63569916G>T	uc004dvs.3	-	4	593	c.503C>A	c.(502-504)cCt>cAt	p.P168H	MTMR8_uc011mou.2_Missense_Mutation_p.P168H	NM_017677	NP_060147	Q96EF0	MTMR8_HUMAN	Homo sapiens myotubularin related protein 8 (MTMR8), mRNA.	168	Myotubularin phosphatase.					nuclear envelope	protein tyrosine phosphatase activity	p.0?(1)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						AACAGATTTAGGAACCACTAT	0.348000														114			8		0.00448238	0.0046769	1	1	0
AKAP13	11214	broad.mit.edu	37	15	86125208	86125208	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:86125208C>A	uc002blv.1	+	6	4079	c.3909C>A	c.(3907-3909)ttC>ttA	p.F1303L	AKAP13_uc002blt.1_Missense_Mutation_p.F1303L|AKAP13_uc002blu.1_Missense_Mutation_p.F1303L|AKAP13_uc010bne.1_5'Flank	NM_007200	NP_009131	Q12802	AKP13_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 13 (AKAP13), transcript variant 2, mRNA.	1303					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	Rho guanyl-nucleotide exchange factor activity|cAMP-dependent protein kinase activity|metal ion binding|protein binding|signal transducer activity	p.F1303I(1)		NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						TGAGTACTTTCCCACCTGGGG	0.527000														37			27		4.7796e-09	5.65454e-09	1	1	0
NAGPA	51172	broad.mit.edu	37	16	5078081	5078081	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:5078081G>A	uc002cyg.3	-	5	1053	c.1026C>T	c.(1024-1026)gaC>gaT	p.D342D	NAGPA_uc010buc.3_Silent_p.D73D|NAGPA_uc002cyh.3_Non-coding_Transcript	NM_016256	NP_057340	Q9UK23	NAGPA_HUMAN	Homo sapiens N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase (NAGPA), mRNA.	342					carbohydrate metabolic process|lysosome organization|protein modification process|protein targeting to lysosome	Golgi cisterna membrane|integral to membrane	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity			endometrium(4)|large_intestine(4)|lung(3)|urinary_tract(1)	12					N-Acetyl-D-glucosamine(DB00141)	GGCAGTGCCCGTCCACGCAGG	0.672000														12			4		0	0	1	0	0
NOTCH4	4855	broad.mit.edu	37	6	32163319	32163319	+	Silent	SNP	A	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:32163319A>T	uc003obb.3	-	29	6046	c.5907T>A	c.(5905-5907)ccT>ccA	p.P1969P	GPSM3_uc003oay.4_5'Flank|GPSM3_uc003oaz.3_5'Flank|NOTCH4_uc011dpt.2_3'UTR|NOTCH4_uc003oba.3_Silent_p.P629P|NOTCH4_uc011dpu.2_Non-coding_Transcript|NOTCH4_uc011dpv.2_Non-coding_Transcript	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	Homo sapiens notch 4 (NOTCH4), mRNA.	1969					Notch receptor processing|Notch signaling pathway|cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						TAAGGCAAGGAGGCGGGATCG	0.617000														66			9		0	0	1	0	0
GCA	25801	broad.mit.edu	37	2	163215567	163215567	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:163215567T>C	uc002ucg.3	+	5	644	c.468T>C	c.(466-468)agT>agC	p.S156S		NM_012198	NP_036330	P28676	GRAN_HUMAN	Homo sapiens grancalcin, EF-hand calcium binding protein (GCA), mRNA.	156	EF-hand 4.				cellular membrane fusion	cytoplasm|plasma membrane	calcium ion binding|protein homodimerization activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(1)	9						ATAGGTTGAGTCCTCAAACAT	0.303000														70			39		0	0	1	0	0
CLIP3	25999	broad.mit.edu	37	19	36508319	36508319	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:36508319G>A	uc010eeq.2	-	10	1799	c.1485C>T	c.(1483-1485)agC>agT	p.S495S	BC071809_uc002ocy.3_Intron|CLIP3_uc002ocz.2_Silent_p.S495S	NM_001199570	NP_001186499	Q96DZ5	CLIP3_HUMAN	Homo sapiens CAP-GLY domain containing linker protein 3 (CLIP3), transcript variant 1, mRNA.	495	GoLD.				chaperone-mediated protein transport|fat cell differentiation|membrane biogenesis|negative regulation of microtubule polymerization|peptidyl-L-cysteine S-palmitoylation|positive regulation of apoptosis|positive regulation of endocytosis|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose transport|positive regulation of protein phosphorylation	Golgi stack|early endosome membrane|membrane raft|microsome|plasma membrane|recycling endosome membrane|trans-Golgi network membrane	ganglioside binding|microtubule binding			cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	23	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TGGCTCCAACGCTGTCCCCGG	0.562000														18			11		0	0	1	0	0
IRGQ	126298	broad.mit.edu	37	19	44096855	44096855	+	Missense_Mutation	SNP	C	T	T	rs111946192		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:44096855C>T	uc002oww.2	-	1	1313	c.1195G>A	c.(1195-1197)Ggc>Agc	p.G399S	IRGQ_uc010eiv.2_Missense_Mutation_p.G399S	NM_001007561	NP_001007562	Q8WZA9	IRGQ_HUMAN	Homo sapiens immunity-related GTPase family, Q (IRGQ), mRNA.	399							protein binding			endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3)	18		Prostate(69;0.0199)				TTCTTCATGCCGACAACCTGC	0.622000														51			43		0	0	1	0	0
MAP3K12	7786	broad.mit.edu	37	12	53879183	53879183	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:53879183T>C	uc001sdn.2	-	4	1169	c.898A>G	c.(898-900)Aag>Gag	p.K300E	MAP3K12_uc001sdm.2_Missense_Mutation_p.K267E	NM_001193511	NP_001180440	Q12852	M3K12_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 12 (MAP3K12), transcript variant 1, mRNA.	267	Protein kinase.				JNK cascade|histone phosphorylation|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|MAP kinase kinase kinase activity|magnesium ion binding|protein homodimerization activity|protein kinase binding			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						AAGGACATCTTGGTGCTCTTG	0.507000														153			108		0	0	1	0	0
LRFN2	57497	broad.mit.edu	37	6	40400646	40400646	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:40400646G>A	uc003oph.1	-	1	672	c.207C>T	c.(205-207)cgC>cgT	p.R69R		NM_020737	NP_065788	Q9ULH4	LRFN2_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 2 (LRFN2), mRNA.	69						cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					CAAAGTCCTGGCGGCTGATGT	0.612000														27			20		0	0	1	0	0
SNRK	54861	broad.mit.edu	37	3	43389157	43389157	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:43389157G>A	uc003cms.4	+	6	1738	c.1406G>A	c.(1405-1407)cGg>cAg	p.R469Q	SNRK_uc003cmt.4_Missense_Mutation_p.R469Q|SNRK_uc010hik.3_Missense_Mutation_p.R469Q|SNRK_uc011azr.2_Missense_Mutation_p.R263Q	NM_017719	NP_060189	Q9NRH2	SNRK_HUMAN	Homo sapiens SNF related kinase (SNRK), transcript variant 1, mRNA.	469					myeloid cell differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	p.R468C(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(5)|prostate(1)|skin(2)|stomach(1)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792)		GTTTTGCGCCGGAAGCCATCT	0.527000														65			8		0	0	1	0	0
GFRAL	389400	broad.mit.edu	37	6	55196545	55196545	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:55196545T>C	uc003pcm.1	+	1	141	c.55T>C	c.(55-57)Tcc>Ccc	p.S19P		NM_207410	NP_997293	Q6UXV0	GFRAL_HUMAN	Homo sapiens GDNF family receptor alpha like (GFRAL), mRNA.	19						integral to membrane	receptor activity			NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			TGAATACACTTCCCAAACCAA	0.343000														51			6		0	0	1	0	0
VPS18	57617	broad.mit.edu	37	15	41192696	41192696	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:41192696A>G	uc001zne.3	+	3	2019	c.1680A>G	c.(1678-1680)gcA>gcG	p.A560A		NM_020857	NP_065908	Q9P253	VPS18_HUMAN	Homo sapiens vacuolar protein sorting 18 homolog (S. cerevisiae) (VPS18), mRNA.	560					endosome organization|lysosome organization|protein transport	HOPS complex|late endosome membrane|lysosomal membrane	metal ion binding|protein binding			autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	28		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		TGTACTTTGCAGTGATCATGC	0.627000														100			58		0	0	1	0	0
ZMYM2	7750	broad.mit.edu	37	13	20660111	20660111	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:20660111T>G	uc001umr.3	+	25	4389	c.4091T>G	c.(4090-4092)aTt>aGt	p.I1364S	ZMYM2_uc001ums.3_Missense_Mutation_p.I1364S|ZMYM2_uc021rgy.1_Missense_Mutation_p.I1364S|ZMYM2_uc001umt.3_Missense_Mutation_p.I1364S|ZMYM2_uc001umv.3_Missense_Mutation_p.I744S|ZMYM2_uc001umw.3_Missense_Mutation_p.I817S	NM_003453	NP_932072	Q9UBW7	ZMYM2_HUMAN	Homo sapiens zinc finger, MYM-type 2 (ZMYM2), transcript variant 1, mRNA.	1364					regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	ubiquitin conjugating enzyme binding|zinc ion binding			large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		GTAAAAGATATTTATGATAAA	0.393000														42			7		0	0	1	0	0
KHDC1	80759	broad.mit.edu	37	6	73952237	73952237	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:73952237C>T	uc003pgo.3	-	2	724	c.223G>A	c.(223-225)Gac>Aac	p.D75N	KHDC1_uc011dyl.1_Non-coding_Transcript|KHDC1_uc003pgn.4_Missense_Mutation_p.D2N	NM_001251874	NP_001238803	Q4VXA5	KHDC1_HUMAN	Homo sapiens KH homology domain containing 1 (KHDC1), transcript variant 1, mRNA.	75						integral to membrane	RNA binding			large_intestine(1)|lung(4)|skin(1)	6						GTTCCCATGTCCATGCTCTGC	0.527000														30			20		0	0	1	0	0
DENND2C	163259	broad.mit.edu	37	1	115130424	115130424	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:115130424C>T	uc001efd.1	-	18	3283	c.2581G>A	c.(2581-2583)Gta>Ata	p.V861I	DENND2C_uc001eez.3_Non-coding_Transcript|DENND2C_uc001efc.1_Missense_Mutation_p.V804I	NM_198459	NP_940861	Q68D51	DEN2C_HUMAN	Homo sapiens DENN/MADD domain containing 2C (DENND2C), transcript variant 2, mRNA.	861	dDENN.									NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		AAGTGGCGTACACTTCGGGAG	0.478000														50			19		0	0	1	0	0
NEK3	4752	broad.mit.edu	37	13	52726773	52726773	+	Missense_Mutation	SNP	G	A	A	rs138876819	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:52726773G>A	uc001vgh.3	-	3	1658	c.427C>T	c.(427-429)Cgt>Tgt	p.R143C	NEK3_uc001vgi.3_Missense_Mutation_p.R122C|NEK3_uc010tgx.2_Non-coding_Transcript|NEK3_uc010tgy.2_Missense_Mutation_p.R122C	NM_001146099	NP_001139571	P51956	NEK3_HUMAN	Homo sapiens NIMA (never in mitosis gene a)-related kinase 3 (NEK3), transcript variant 3, mRNA.	122	Interaction with VAV2.|Protein kinase.				cell division|mitosis	nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|stomach(2)	18		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.034)|Hepatocellular(98;0.065)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.81e-08)		TGTAGCACACGTTTCTTGTGA	0.353000														44			17		0	0	1	0	0
COL2A1	1280	broad.mit.edu	37	12	48367317	48367317	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:48367317C>T	uc001rqu.3	-	53	4518	c.4337G>A	c.(4336-4338)gGc>gAc	p.G1446D	COL2A1_uc001rqt.3_Missense_Mutation_p.G227D|COL2A1_uc009zkw.3_Non-coding_Transcript|COL2A1_uc001rqv.3_Missense_Mutation_p.G1377D	NM_001844	NP_001835	P02458	CO2A1_HUMAN	Homo sapiens collagen, type II, alpha 1 (COL2A1), transcript variant 1, mRNA.	1446	Fibrillar collagen NC1.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	AACAGTCTTGCCCCACTTACC	0.532000														35			17		0	0	1	0	0
GORAB	92344	broad.mit.edu	37	1	170511715	170511715	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:170511715C>A	uc001gha.2	+	2	605	c.578C>A	c.(577-579)gCt>gAt	p.A193D	GORAB_uc001ggz.4_Missense_Mutation_p.A193D|GORAB_uc009wvx.2_Missense_Mutation_p.A13D|GORAB_uc001ghb.2_Missense_Mutation_p.A13D|GORAB_uc001ghc.2_Missense_Mutation_p.A13D|GORAB_uc001ghd.2_5'Flank	NM_152281	NP_689494	Q5T7V8	GORAB_HUMAN	Homo sapiens golgin, RAB6-interacting (GORAB), transcript variant 1, mRNA.	193						Golgi apparatus|nucleus				endometrium(2)|large_intestine(3)|liver(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	17						GCTCTTTTGGCTAAAGCTATT	0.413000														184			17		3.41278e-10	4.10877e-10	1	1	0
ATP13A1	57130	broad.mit.edu	37	19	19770598	19770598	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:19770598G>A	uc002nnh.4	-	2	517	c.489C>T	c.(487-489)ggC>ggT	p.G163G	ATP13A1_uc002nng.3_Silent_p.G45G	NM_020410	NP_065143	Q9HD20	AT131_HUMAN	Homo sapiens ATPase type 13A1 (ATP13A1), mRNA.	163					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						GCCCGTCTTCGCCCTGCGGTA	0.587000														12			10		0	0	1	0	0
BOD1L1	259282	broad.mit.edu	37	4	13603268	13603268	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:13603268T>C	uc003gmz.1	-	9	5373	c.5256A>G	c.(5254-5256)gaA>gaG	p.E1752E	BOD1L1_uc010idr.1_Silent_p.E1089E	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN	Homo sapiens biorientation of chromosomes in cell division 1-like (BOD1L), mRNA.	1752							DNA binding										TAACCATGCGTTCCTCCCGGG	0.507000														126			83		0	0	1	0	0
NUDC	10726	broad.mit.edu	37	1	27269425	27269425	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:27269425C>T	uc001bng.1	+	5	726	c.610C>T	c.(610-612)Cgg>Tgg	p.R204W	BC016143_uc021ojq.1_Intron	NM_006600	NP_006591	Q9Y266	NUDC_HUMAN	Homo sapiens nuclear distribution gene C homolog (A. nidulans) (NUDC), mRNA.	204	CS.				cell proliferation|cytokinesis|mitotic prometaphase|multicellular organismal development	cytosol|microtubule|nucleoplasm	protein binding			cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|ovary(1)	8				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;6.1e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.87e-29)|Colorectal(126;5.74e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000281)|STAD - Stomach adenocarcinoma(196;0.000604)|KIRC - Kidney renal clear cell carcinoma(1967;0.000739)|READ - Rectum adenocarcinoma(331;0.0421)		GGACATCCAGCGGCGGCACCT	0.592000														34			8		0	0	1	0	0
GAL3ST1	9514	broad.mit.edu	37	22	30951066	30951066	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:30951066G>A	uc003aig.1	-	3	1286	c.1146C>T	c.(1144-1146)atC>atT	p.I382I	GAL3ST1_uc003aih.1_Silent_p.I382I|GAL3ST1_uc003aii.1_Silent_p.I382I|GAL3ST1_uc010gvz.1_Silent_p.I382I	NM_004861	NP_004852	Q99999	G3ST1_HUMAN	Homo sapiens galactose-3-O-sulfotransferase 1 (GAL3ST1), mRNA.	382					protein N-linked glycosylation	Golgi membrane|integral to plasma membrane|membrane fraction	galactosylceramide sulfotransferase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						GCCGCTGCCCGATGCTCTTCT	0.672000														30			24		0	0	1	0	0
VAC14	55697	broad.mit.edu	37	16	70814781	70814781	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:70814781G>A	uc002ezm.3	-	8	1266	c.1008C>T	c.(1006-1008)gaC>gaT	p.D336D	VAC14_uc010cfw.3_Silent_p.D102D|VAC14_uc002ezn.3_Intron|TRNA_uc021tkl.1_5'Flank|TRNA_uc021tkm.1_5'Flank|TRNA_Gly_uc021tkn.1_5'Flank	NM_018052	NP_060522	Q08AM6	VAC14_HUMAN	Homo sapiens Vac14 homolog (S. cerevisiae) (VAC14), mRNA.	336					interspecies interaction between organisms	endoplasmic reticulum|endosome membrane|microsome	protein binding|receptor activity			breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Ovarian(137;0.0699)				CCAGCTCGTCGTCCTCGGGGG	0.592000														33			9		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179582375	179582375	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179582375G>T	uc021vsy.1	-	83	21719	c.21494C>A	c.(21493-21495)tCt>tAt	p.S7165Y	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.S3826Y	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	8092	Ig-like 53.						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)			ATGAACAAAAGATGTCTGCAA	0.418000														18			12		2.80697e-09	3.3309e-09	1	1	0
FAM69B	138311	broad.mit.edu	37	9	139617871	139617871	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:139617871C>T	uc004cik.3	+	4	1035	c.941C>T	c.(940-942)gCc>gTc	p.A314V	FAM69B_uc004cil.3_Missense_Mutation_p.A227V|SNHG7_uc004cim.2_Intron	NM_152421	NP_689634	Q5VUD6	FA69B_HUMAN	Homo sapiens family with sequence similarity 69, member B (FAM69B), mRNA.	314						endoplasmic reticulum membrane|integral to membrane				NS(1)|endometrium(3)|large_intestine(2)|lung(1)|prostate(1)	8	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;1.03e-05)|Epithelial(140;0.00013)		TTCAAGATGGCCGACCTGCAG	0.647000														9			10		0	0	1	0	0
C7	730	broad.mit.edu	37	5	40964872	40964872	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:40964872A>C	uc003jmh.3	+	13	1893	c.1779A>C	c.(1777-1779)aaA>aaC	p.K593N	C7_uc011cpn.1_Non-coding_Transcript	NM_000587	NP_000578	P10643	CO7_HUMAN	Homo sapiens complement component 7 (C7), mRNA.	593	Sushi 1.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				CTGTGGGGAAAAATGTAGTGT	0.378000														49			26		0	0	1	0	0
NFATC2	4773	broad.mit.edu	37	20	50140512	50140512	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:50140512C>A	uc002xwd.3	-	1	488	c.268G>T	c.(268-270)Gat>Tat	p.D90Y	NFATC2_uc002xwc.3_Missense_Mutation_p.D90Y|NFATC2_uc010zyv.2_Intron|NFATC2_uc010zyw.2_Intron|NFATC2_uc002xwe.3_Missense_Mutation_p.D70Y|NFATC2_uc010zyx.2_Missense_Mutation_p.D70Y|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.	90					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	p.D90Y(2)|p.P89L(1)	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)					CCTACCCTATCCGGCTCTCCG	0.647000														69			9		1.76689e-08	2.07166e-08	1	1	0
TBC1D28	254272	broad.mit.edu	37	17	18539872	18539872	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:18539872G>A	uc002gud.2	-	9	948	c.536C>T	c.(535-537)gCa>gTa	p.A179V		NM_001039397	NP_001034486	Q2M2D7	TBC28_HUMAN	Homo sapiens TBC1 domain family, member 28 (TBC1D28), mRNA.	179	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			breast(1)|large_intestine(5)|lung(2)|ovary(1)	9						AGGGTTATATGCAGAATAGGC	0.463000														102			13		0	0	1	0	0
FNDC3B	64778	broad.mit.edu	37	3	172065003	172065003	+	Splice_Site	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:172065003G>T	uc003fhy.3	+	21	2537	c.2365_splice	c.e21-1	p.S789_splice	FNDC3B_uc003fhz.4_Splice_Site_p.S789_splice	NM_022763	NP_073600	Q53EP0	FND3B_HUMAN	Homo sapiens fibronectin type III domain containing 3B (FNDC3B), transcript variant 1, mRNA.	789	Fibronectin type-III 6.					endoplasmic reticulum|integral to membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		CCTTTCCAGAGTCCTGATAGT	0.413000														64			35		2.40579e-17	3.06446e-17	1	1	0
TTN	7273	broad.mit.edu	37	2	179483176	179483176	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179483176A>C	uc021vsy.1	-	200	39530	c.39305T>G	c.(39304-39306)tTt>tGt	p.F13102C	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.F6797C|TTN_uc021vta.1_Missense_Mutation_p.F6730C|TTN_uc021vtb.1_Missense_Mutation_p.F6605C	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	14029							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)			TTCACCATCAAATGTTTCTGT	0.388000														38			22		0	0	1	0	0
PLXNA3	55558	broad.mit.edu	37	X	153696663	153696663	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153696663G>T	uc004flm.3	+	22	4154	c.3981G>T	c.(3979-3981)gaG>gaT	p.E1327D		NM_017514	NP_059984	P51805	PLXA3_HUMAN	Homo sapiens plexin A3 (PLXNA3), mRNA.	1327					axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCAACGTGGAGAAGGCCCTGC	0.672000														40			6		1.26484e-09	1.50989e-09	1	1	0
PIK3CB	5291	broad.mit.edu	37	3	138426069	138426069	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:138426069C>T	uc011bmq.2	-	8	1462	c.1462G>A	c.(1462-1464)Gca>Aca	p.A488T	PIK3CB_uc011bmn.2_Missense_Mutation_p.A17T|PIK3CB_uc011bmo.2_Intron|PIK3CB_uc011bmp.2_Missense_Mutation_p.A92T	NM_006219	NP_006210	P42338	PK3CB_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, beta polypeptide (PIK3CB), transcript variant 1, mRNA.	488					G-protein coupled receptor protein signaling pathway|T cell receptor signaling pathway|activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						AAAGCTGTTGCATTTTCAGTA	0.313000														47			8		0	0	1	0	0
POLR2A	5430	broad.mit.edu	37	17	7405278	7405278	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7405278G>T	uc002ghf.4	+	14	2795	c.2409G>T	c.(2407-2409)aaG>aaT	p.K803N		NM_000937	NP_000928	P24928	RPB1_HUMAN	Homo sapiens polymerase (RNA) II (DNA directed) polypeptide A, 220kDa (POLR2A), mRNA.	803					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|RNA-directed RNA polymerase activity|metal ion binding|ubiquitin protein ligase binding			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				TTGGCTTCAAGCACCGGACTC	0.547000														40			16		5.03518e-11	6.129e-11	1	1	0
AUTS2	26053	broad.mit.edu	37	7	70229955	70229955	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:70229955C>T	uc003tvw.4	+	7	2167	c.1432C>T	c.(1432-1434)Cag>Tag	p.Q478*	AUTS2_uc003tvx.4_Nonsense_Mutation_p.Q478*|AUTS2_uc011keg.2_5'Flank	NM_015570	NP_056385	Q8WXX7	AUTS2_HUMAN	Homo sapiens autism susceptibility candidate 2 (AUTS2), transcript variant 1, mRNA.	478										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		AGGAAGTCTGCAGGTGGCCGG	0.662000														20			12		0	0	1	0	0
ZNF675	171392	broad.mit.edu	37	19	23836033	23836033	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:23836033C>T	uc002nri.3	-	3	1884	c.1702G>A	c.(1702-1704)Gtg>Atg	p.V568M		NM_138330	NP_612203	Q8TD23	ZN675_HUMAN	Homo sapiens zinc finger protein 675 (ZNF675), mRNA.	568					I-kappaB kinase/NF-kappaB cascade|bone resorption|cytokine-mediated signaling pathway|hemopoiesis|negative regulation of JNK cascade|negative regulation of osteoclast differentiation|negative regulation of protein kinase activity|negative regulation of transcription, DNA-dependent|regulation of ossification|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				CATTATCACACATTCCAGTTC	0.299000														23			11		0	0	1	0	0
OR5H2	79310	broad.mit.edu	37	3	98001933	98001933	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:98001933C>A	uc003dsj.1	+	0	202	c.202C>A	c.(202-204)Ctt>Att	p.L68I		NM_001005482	NP_001005482	Q8NGV7	OR5H2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 2 (OR5H2), mRNA.	68					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						GTACTTTTTTCTTGGGAGTTT	0.408000														179			113		2.19568e-55	2.92853e-55	1	1	0
ZW10	9183	broad.mit.edu	37	11	113607481	113607481	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:113607481G>A	uc001poe.3	-	14	2177	c.2080C>T	c.(2080-2082)Ccc>Tcc	p.P694S	ZW10_uc009yyv.3_Non-coding_Transcript	NM_004724	NP_004715	O43264	ZW10_HUMAN	Homo sapiens ZW10, kinetochore associated, homolog (Drosophila) (ZW10), mRNA.	694					ER to Golgi vesicle-mediated transport|cell division|establishment of mitotic spindle orientation|meiosis|mitotic cell cycle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|protein complex assembly|protein localization to kinetochore|protein transport|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|endoplasmic reticulum membrane|kinetochore microtubule|nucleus|spindle pole	centromeric DNA binding|protein binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	18		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)		AATACTTGGGGTCCTTCATCC	0.373000														123			57		0	0	1	0	0
PPID	5481	broad.mit.edu	37	4	159642600	159642600	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:159642600C>T	uc003iqc.3	-	1	233	c.121G>A	c.(121-123)Gta>Ata	p.V41I		NM_005038	NP_005029	Q08752	PPID_HUMAN	Homo sapiens peptidylprolyl isomerase D (PPID), mRNA.	41	PPIase cyclophilin-type.				protein folding	cytoplasm|intermediate filament cytoskeleton	cyclosporin A binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)	8	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0159)		GTTTTGGGTACGATATCTGCA	0.378000														9			22		0	0	1	0	0
ARL4A	10124	broad.mit.edu	37	7	12727892	12727892	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:12727892C>A	uc003ssp.3	+	1	319	c.13C>A	c.(13-15)Ctg>Atg	p.L5M	ARL4A_uc003ssq.3_Missense_Mutation_p.L5M|ARL4A_uc021zzq.1_Missense_Mutation_p.L5M|ARL4A_uc003sss.3_Missense_Mutation_p.L5M|ARL4A_uc021zzr.1_Missense_Mutation_p.L5M	NM_001037164	NP_997625	P40617	ARL4A_HUMAN	Homo sapiens ADP-ribosylation factor-like 4A (ARL4A), transcript variant 3, mRNA.	5					small GTPase mediated signal transduction	cytoplasm|nucleolus|plasma membrane	GTP binding|protein binding	p.G4R(1)		NS(2)|lung(3)|ovary(1)	6				UCEC - Uterine corpus endometrioid carcinoma (126;0.176)		GGGGAATGGGCTGTCAGACCA	0.418000														242			24		7.38237e-10	8.84762e-10	1	1	0
DAB2IP	153090	broad.mit.edu	37	9	124525895	124525895	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:124525895C>T	uc004bln.3	+	6	1267	c.1198C>T	c.(1198-1200)Cta>Tta	p.L400L	DAB2IP_uc004blo.3_Silent_p.L304L	NM_032552	NP_115941	Q5VWQ8	DAB2P_HUMAN	Homo sapiens DAB2 interacting protein (DAB2IP), transcript variant 1, mRNA.	428	Ras-GAP.				activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|Ras GTPase activator activity|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|signaling adaptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						GTACCTCAAGCTAGTGGGCCA	0.637000														13			5		0	0	1	0	0
PSMD11	5717	broad.mit.edu	37	17	30791130	30791130	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:30791130G>A	uc010cta.1	+	3	422	c.382G>A	c.(382-384)Gct>Act	p.A128T	PSMD11_uc010wbz.1_Missense_Mutation_p.A128T|PSMD11_uc002hhm.3_Missense_Mutation_p.A128T	NM_002815	NP_002806	O00231	PSD11_HUMAN	Homo sapiens proteasome (prosome, macropain) 26S subunit, non-ATPase, 11 (PSMD11), mRNA.	128					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction	proteasome complex	protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19		Breast(31;0.159)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.109)			CTTACGCCAAGCTTTGGAGGT	0.423000														92			45		0	0	1	0	0
PDCD4	27250	broad.mit.edu	37	10	112647497	112647497	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:112647497G>T	uc001kzh.3	+	5	916	c.630G>T	c.(628-630)gaG>gaT	p.E210D	PDCD4_uc001kzg.3_Missense_Mutation_p.E199D|PDCD4_uc010qre.2_Missense_Mutation_p.E196D	NM_014456	NP_055271	Q53EL6	PDCD4_HUMAN	Homo sapiens programmed cell death 4 (neoplastic transformation inhibitor) (PDCD4), transcript variant 1, mRNA.	210	MI 1.				apoptosis|cell aging|negative regulation of JUN kinase activity|negative regulation of cell cycle|negative regulation of transcription, DNA-dependent	cytosol|nucleus	RNA binding|protein binding			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	13		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.000526)|all cancers(201;0.00794)|BRCA - Breast invasive adenocarcinoma(275;0.125)		TAGCATTGGAGGGGAAGGCTA	0.353000														84			45		2.20914e-33	2.92314e-33	1	1	0
MAT2A	4144	broad.mit.edu	37	2	85769031	85769031	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:85769031C>T	uc002spr.3	+	4	795	c.485C>T	c.(484-486)gCc>gTc	p.A162V	MAT2A_uc010ysr.2_Missense_Mutation_p.A162V|MAT2A_uc010fgl.2_Missense_Mutation_p.A99V|MAT2A_uc010fgm.1_3'UTR	NM_005911	NP_005902	P31153	METK2_HUMAN	Homo sapiens methionine adenosyltransferase II, alpha (MAT2A), mRNA.	162					methylation|xenobiotic metabolic process	cytosol	ATP binding|metal ion binding|methionine adenosyltransferase activity			breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	9					L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	AAGCTAAATGCCAAACTGGCA	0.418000														58			40		0	0	1	0	0
DOPEY1	23033	broad.mit.edu	37	6	83831684	83831684	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:83831684T>G	uc011dyy.2	+	10	1368	c.1108T>G	c.(1108-1110)Ttt>Gtt	p.F370V	DOPEY1_uc003pjs.1_Missense_Mutation_p.F379V|DOPEY1_uc010kbl.1_Missense_Mutation_p.F370V	NM_001199942	NP_001186871	Q5JWR5	DOP1_HUMAN	Homo sapiens dopey family member 1 (DOPEY1), transcript variant 2, mRNA.	379					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		GATTGAAGTGTTTAGAACATT	0.338000														49			34		0	0	1	0	0
OR4A5	81318	broad.mit.edu	37	11	51411583	51411583	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:51411583A>C	uc001nhi.2	-	0	866	c.813T>G	c.(811-813)ttT>ttG	p.F271L		NM_001005272	NP_001005272	Q8NH83	OR4A5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 5 (OR4A5), mRNA.	271					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				TAATGGTATAAAACACAGTCA	0.348000														22			27		0	0	1	0	0
SCIMP	388325	broad.mit.edu	37	17	5114138	5114138	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:5114138G>A	uc002gbh.2	-	4	429	c.396C>T	c.(394-396)gaC>gaT	p.D132D	LOC100130950_uc002gbf.2_Intron|LOC100130950_uc002gbg.2_Intron|SCIMP_uc010clb.1_Silent_p.D125D	NM_207103	NP_996986	Q6UWF3	CQ087_HUMAN	Homo sapiens SLP adaptor and CSK interacting membrane protein (SCIMP), mRNA.	132						integral to membrane											TTTCAACATCGTCATAGTCAT	0.383000														17			59		0	0	1	0	0
PCIF1	63935	broad.mit.edu	37	20	44576322	44576322	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:44576322G>A	uc002xqs.3	+	16	2357	c.2043G>A	c.(2041-2043)tcG>tcA	p.S681S	PCIF1_uc002xqt.3_3'UTR	NM_022104	NP_071387	Q9H4Z3	PCIF1_HUMAN	Homo sapiens PDX1 C-terminal inhibiting factor 1 (PCIF1), mRNA.	681	Poly-Ser.					nucleus				central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	20						CTTCCTCATCGTCCTCCTCGG	0.667000														11			17		0	0	1	0	0
RPL13A	23521	broad.mit.edu	37	19	49993743	49993743	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:49993743G>A	uc002pny.3	+	3	188	c.166G>A	c.(166-168)Gct>Act	p.A56T	RPL13A_uc002pnz.3_5'UTR|SNORD33_uc010emz.1_5'Flank|SNORD34_uc010ena.1_5'Flank|SNORD35A_uc010enb.1_5'Flank	NM_012423	NP_036555	P40429	RL13A_HUMAN	Homo sapiens ribosomal protein L13a (RPL13A), mRNA.	56					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|large ribosomal subunit	structural constituent of ribosome			cervix(1)|endometrium(1)	2		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246)		GAAGTACCTGGCTTTCCTCCG	0.622000														21			20		0	0	1	0	0
MRPS26	64949	broad.mit.edu	37	20	3028480	3028480	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:3028480G>A	uc002whs.3	+	3	623	c.583G>A	c.(583-585)Ggg>Agg	p.G195R		NM_030811	NP_110438	Q9BYN8	RT26_HUMAN	Homo sapiens mitochondrial ribosomal protein S26 (MRPS26), nuclear gene encoding mitochondrial protein, mRNA.	195					DNA damage response, detection of DNA damage	mitochondrial small ribosomal subunit				kidney(1)|lung(1)	2						CACCAGAGAGGGGCTGGTGGT	0.587000														34			4		0	0	1	0	0
BACH1	571	broad.mit.edu	37	21	30701893	30701893	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:30701893C>A	uc002ynk.3	+	3	1898	c.1655C>A	c.(1654-1656)cCa>cAa	p.P552Q	BACH1_uc002ynj.3_Missense_Mutation_p.P552Q|BACH1_uc002ynl.2_Non-coding_Transcript	NM_206866	NP_996749	O14867	BACH1_HUMAN	Homo sapiens BTB and CNC homology 1, basic leucine zipper transcription factor 1 (BACH1), transcript variant 1, mRNA.	552						nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|urinary_tract(2)	27						AAGCTTACTCCAGAACAGCTG	0.373000														24			10		7.48243e-07	8.52591e-07	1	1	0
KALRN	8997	broad.mit.edu	37	3	124103819	124103819	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:124103819G>A	uc003ehg.3	+	10	2019	c.1892G>A	c.(1891-1893)cGc>cAc	p.R631H	KALRN_uc010hrv.1_Missense_Mutation_p.R631H|KALRN_uc003ehf.1_Missense_Mutation_p.R631H|KALRN_uc011bjy.1_Missense_Mutation_p.R631H|KALRN_uc003ehh.1_5'UTR	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA.	631					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GACTTCGTGCGCAGGGTGGAG	0.572000														35			25		0	0	1	0	0
PDE6C	5146	broad.mit.edu	37	10	95394638	95394638	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:95394638G>A	uc001kiu.4	+	8	1381	c.1243G>A	c.(1243-1245)Gat>Aat	p.D415N		NM_006204	NP_006195	P51160	PDE6C_HUMAN	Homo sapiens phosphodiesterase 6C, cGMP-specific, cone, alpha prime (PDE6C), mRNA.	415	GAF 2.				visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)				AAAACCTTTCGATGAGCATGA	0.363000														21			23		0	0	1	0	0
SPG20	23111	broad.mit.edu	37	13	36886330	36886330	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:36886330C>T	uc001uvn.3	-	8	1955	c.1685G>A	c.(1684-1686)tGc>tAc	p.C562Y	SPG20_uc010ten.2_Missense_Mutation_p.C552Y|SPG20_uc001uvm.3_Missense_Mutation_p.C562Y|SPG20_uc001uvo.3_Missense_Mutation_p.C562Y|SPG20_uc001uvq.3_Missense_Mutation_p.C562Y	NM_001142296	NP_055902	Q8N0X7	SPG20_HUMAN	Homo sapiens spastic paraplegia 20 (Troyer syndrome) (SPG20), transcript variant 2, mRNA.	562					cell death	cytoplasm	ubiquitin protein ligase binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	27		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)		GTTAACGATGCATTTAGCTGC	0.323000														45			14		0	0	1	0	0
TMEM38B	55151	broad.mit.edu	37	9	108536258	108536258	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:108536258G>T	uc004bcu.1	+	5	890	c.773G>T	c.(772-774)aGt>aTt	p.S258I	TMEM38B_uc010mtn.1_3'UTR	NM_018112	NP_060582	Q9NVV0	TM38B_HUMAN	Homo sapiens transmembrane protein 38B (TMEM38B), mRNA.	258						integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity			kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	13						GAGAAGAAAAGTGAAGCAAAG	0.413000														65			27		0.000117367	0.000127522	1	1	0
ZNF852	285346	broad.mit.edu	37	3	44541424	44541424	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:44541424C>T	uc011azx.2	-	3	1006	c.845G>A	c.(844-846)cGg>cAg	p.R282Q	ZNF445_uc011azw.1_Intron|ZNF852_uc011azy.2_Missense_Mutation_p.R248Q			B6EU87	B6EU87_HUMAN	RecName: Full=Putative zinc finger protein 852;	282					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|lung(5)	8						ATTTTTACTCCGACTAAAGGC	0.423000														14			16		0	0	1	0	0
RFX5	5993	broad.mit.edu	37	1	151315446	151315446	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:151315446G>T	uc001exv.1	-	10	1281	c.1067C>A	c.(1066-1068)tCt>tAt	p.S356Y	RFX5_uc001exw.1_Missense_Mutation_p.S356Y|RFX5_uc010pcx.1_Missense_Mutation_p.S316Y	NM_001025603	NP_001020774	P48382	RFX5_HUMAN	Homo sapiens regulatory factor X, 5 (influences HLA class II expression) (RFX5), transcript variant 2, mRNA.	356						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GGCACCTGAAGAAAGCCTGGG	0.587000														32			34		7.11191e-15	8.93066e-15	1	1	0
DCLRE1B	64858	broad.mit.edu	37	1	114448282	114448282	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:114448282G>A	uc001eeg.3	+	0	368	c.74G>A	c.(73-75)cGt>cAt	p.R25H	AP4B1_uc001eeb.3_5'Flank|AP4B1_uc001eec.3_5'Flank|AP4B1_uc010owp.2_5'Flank|AP4B1_uc001eed.3_5'Flank|AP4B1_uc010owq.2_5'Flank|DCLRE1B_uc001eeh.3_5'UTR|DCLRE1B_uc001eei.3_5'UTR	NM_022836	NP_073747	Q9H816	DCR1B_HUMAN	Homo sapiens DNA cross-link repair 1B (DCLRE1B), mRNA.	25					DNA repair|cell cycle checkpoint|protection from non-homologous end joining at telomere|telomeric 3' overhang formation|telomeric loop formation	centrosome|chromosome, telomeric region|nucleus	5'-3' exonuclease activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(6)|stomach(1)	18	Lung SC(450;0.184)	all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGCACCGCACGTCTCTTCTTC	0.627000								Other identified genes with known or suspected DNA repair function						54			25		0	0	1	0	0
FOXRED1	55572	broad.mit.edu	37	11	126145996	126145996	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:126145996G>A	uc001qdi.3	+	7	1020	c.853G>A	c.(853-855)Gcc>Acc	p.A285T	FOXRED1_uc010sbn.2_Missense_Mutation_p.A115T|FOXRED1_uc010sbq.2_Missense_Mutation_p.A152T|FOXRED1_uc010sbo.2_Non-coding_Transcript|FOXRED1_uc010sbp.2_Missense_Mutation_p.A98T|FOXRED1_uc010sbr.2_Missense_Mutation_p.A271T|FOXRED1_uc001qdk.3_Missense_Mutation_p.A74T	NM_017547	NP_060017	Q96CU9	FXRD1_HUMAN	Homo sapiens FAD-dependent oxidoreductase domain containing 1 (FOXRED1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	285						integral to membrane|mitochondrion	oxidoreductase activity|protein binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	15	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0729)		TGTGGAATGCGCCATTGTGAT	0.642000														27			9		0	0	1	0	0
IPO5	3843	broad.mit.edu	37	13	98673358	98673358	+	Missense_Mutation	SNP	C	T	T	rs139976558		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:98673358C>T	uc001vne.3	+	27	3412	c.3232C>T	c.(3232-3234)Cgt>Tgt	p.R1078C		NM_002271	NP_002262	O00410	IPO5_HUMAN	Homo sapiens importin 5 (IPO5), mRNA.	1060					NLS-bearing substrate import into nucleus|interspecies interaction between organisms|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|Ran GTPase binding|protein transporter activity			breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						TTGTGCCAAACGTCTGGCCAA	0.418000														104			44		0	0	1	0	0
FAM83A	84985	broad.mit.edu	37	8	124195134	124195134	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:124195134G>A	uc003ypv.3	+	1	2052	c.38G>A	c.(37-39)cGt>cAt	p.R13H	FAM83A_uc003ypw.3_Missense_Mutation_p.R13H|U3_uc022bai.1_5'Flank|FAM83A_uc003ypx.3_Missense_Mutation_p.R13H|FAM83A_uc003ypy.3_Missense_Mutation_p.R13H|FAM83A_uc003ypz.3_Missense_Mutation_p.R13H	NM_032899	NP_116288	Q86UY5	FA83A_HUMAN	Homo sapiens family with sequence similarity 83, member A (FAM83A), transcript variant 1, mRNA.	13										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(2)|skin(1)	17	Lung NSC(37;1.55e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			ATCCGGAAGCGTCTGGAAGAT	0.647000														11			3		0	0	1	0	0
C5orf42	65250	broad.mit.edu	37	5	37153906	37153906	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:37153906T>G	uc011cpa.1	-	40	8378	c.8147A>C	c.(8146-8148)aAc>aCc	p.N2716T	C5orf42_uc003jkp.1_Non-coding_Transcript|C5orf42_uc011coy.1_Missense_Mutation_p.N1234T|C5orf42_uc003jks.2_Non-coding_Transcript|C5orf42_uc011coz.1_Missense_Mutation_p.N1809T	NM_023073	NP_075561	E9PH94	E9PH94_HUMAN	Homo sapiens chromosome 5 open reading frame 42 (C5orf42), mRNA.	2716										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			TTCAGCAATGTTCTGTATTGC	0.423000														55			35		0	0	1	0	0
LMAN1L	79748	broad.mit.edu	37	15	75108826	75108826	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:75108826C>T	uc002ayt.1	+	2	391	c.389C>T	c.(388-390)tCg>tTg	p.S130L	LMAN1L_uc010bkd.2_Missense_Mutation_p.S58L|LMAN1L_uc010ulo.1_Intron|LMAN1L_uc010bke.1_Missense_Mutation_p.S130L	NM_021819	NP_068591	Q9HAT1	LMA1L_HUMAN	Homo sapiens lectin, mannose-binding, 1 like (LMAN1L), mRNA.	130	L-type lectin-like.					ER-Golgi intermediate compartment membrane|integral to membrane	sugar binding	p.S130L(2)		NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GGGCTGGCTTCGTGGGACGGC	0.667000														59			28		0	0	1	0	0
TTC23	64927	broad.mit.edu	37	15	99762037	99762037	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:99762037G>A	uc002bur.3	-	4	744	c.213C>T	c.(211-213)tgC>tgT	p.C71C	TTC23_uc002bus.3_Silent_p.C71C|TTC23_uc002but.3_Silent_p.C71C|TTC23_uc002buu.3_Silent_p.C71C|TTC23_uc002buv.3_Silent_p.C71C|TTC23_uc002bux.3_Silent_p.C71C|TTC23_uc002buw.3_Silent_p.C71C|TTC23_uc010boq.3_Non-coding_Transcript|TTC23_uc002buy.3_Silent_p.C71C|TTC23_uc010bor.3_Silent_p.C71C|TTC23_uc002buz.2_Silent_p.C71C	NM_022905	NP_075056	Q5W5X9	TTC23_HUMAN	Homo sapiens tetratricopeptide repeat domain 23 (TTC23), transcript variant 2, mRNA.	71							binding	p.R70C(1)		endometrium(2)|large_intestine(3)|lung(9)|urinary_tract(2)	16	all_cancers(4;1.49e-13)|Lung NSC(78;0.000545)|all_lung(78;0.00121)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		all cancers(5;8.11e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00215)			TCAGTGCTACGCAACGCACAA	0.448000														22			17		0	0	1	0	0
ITGAV	3685	broad.mit.edu	37	2	187466773	187466773	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:187466773C>T	uc002upq.3	+	1	487	c.211C>T	c.(211-213)Ccc>Tcc	p.P71S	ITGAV_uc010frs.3_Missense_Mutation_p.P71S|ITGAV_uc010zfv.2_Missense_Mutation_p.P25S	NM_002210	NP_002201	P06756	ITAV_HUMAN	Homo sapiens integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51) (ITGAV), transcript variant 1, mRNA.	71					ERK1 and ERK2 cascade|angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)		CGTGGGAGCTCCCAAAGCAAA	0.473000														31			23		0	0	1	0	0
TXNDC5	81567	broad.mit.edu	37	6	7891855	7891855	+	Splice_Site	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:7891855T>G	uc003mxv.3	-	5	770	c.732_splice	c.e5+1	p.K244_splice	TXNDC5_uc003mxw.3_Splice_Site_p.K201_splice|TXNDC5_uc010jnz.3_Splice_Site_p.K136_splice|TXNDC5_uc010joa.2_Splice_Site_p.K136_splice	NM_030810	NP_001139021	Q8NBS9	TXND5_HUMAN	Homo sapiens thioredoxin domain containing 5 (endoplasmic reticulum) (TXNDC5), transcript variant 1, mRNA.	244	Thioredoxin 2.				anti-apoptosis|cell redox homeostasis|cellular membrane organization|glycerol ether metabolic process|post-Golgi vesicle-mediated transport	endoplasmic reticulum lumen|lysosomal lumen	electron carrier activity|isomerase activity|protein disulfide oxidoreductase activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(2)	22	Ovarian(93;0.0398)					TTCACTCACCTTGCCAATCTT	0.498000														42			5		0	0	1	0	0
CA7	766	broad.mit.edu	37	16	66886638	66886638	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:66886638C>T	uc002eqi.3	+	5	649	c.540C>T	c.(538-540)tgC>tgT	p.C180C	AF086125_uc002eqh.3_Intron|CA7_uc002eqj.3_Silent_p.C124C	NM_005182	NP_001014435	P43166	CAH7_HUMAN	Homo sapiens carbonic anhydrase VII (CA7), transcript variant 1, mRNA.	180					one-carbon metabolic process	cytoplasm	carbonate dehydratase activity|zinc ion binding			kidney(1)|large_intestine(1)|lung(4)	6		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)		AGTTCAGCTGCTTCAACCCCA	0.592000														32			15		0	0	1	0	0
CX3CR1	1524	broad.mit.edu	37	3	39306959	39306959	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:39306959C>A	uc021wwc.1	-	1	1178	c.1138G>T	c.(1138-1140)Gat>Tat	p.D380Y	CX3CR1_uc021wwa.1_Missense_Mutation_p.D348Y|CX3CR1_uc021wwb.1_Missense_Mutation_p.D348Y|CX3CR1_uc003cjl.3_Missense_Mutation_p.D348Y|CX3CR1_uc021wwd.1_Missense_Mutation_p.D348Y	NM_001171174	NP_001164645	P49238	CX3C1_HUMAN	Homo sapiens chemokine (C-X3-C motif) receptor 1 (CX3CR1), transcript variant 1, mRNA.	348					cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding	integral to plasma membrane	chemokine receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		GCATCTCCATCACTCGTGTGG	0.483000														126			65		7.48145e-19	9.61165e-19	1	1	0
ZNF841	284371	broad.mit.edu	37	19	52570128	52570128	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:52570128C>T	uc010ydh.1	-	6	1467	c.1007G>A	c.(1006-1008)cGg>cAg	p.R336Q	ZNF841_uc002pyl.1_Missense_Mutation_p.R220Q	NM_001136499	NP_001129971	Q6ZN19	ZN841_HUMAN	Homo sapiens zinc finger protein 841 (ZNF841), mRNA.	220					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(3)|lung(3)	11						GTGACTTCTCCGGTGATTTAC	0.403000														19			11		0	0	1	0	0
PFAS	5198	broad.mit.edu	37	17	8169287	8169287	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:8169287C>T	uc002gkr.3	+	20	2794	c.2653C>T	c.(2653-2655)Cct>Tct	p.P885S	PFAS_uc010vuv.2_Missense_Mutation_p.P461S|PFAS_uc002gks.3_5'UTR	NM_012393	NP_036525	O15067	PUR4_HUMAN	Homo sapiens phosphoribosylformylglycinamidine synthase (PFAS), mRNA.	885					'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CCTGGACCTTCCTGAGAACTT	0.642000														24			10		0	0	1	0	0
SETMAR	6419	broad.mit.edu	37	3	4355208	4355208	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:4355208T>G	uc011asp.2	+	1	850	c.783T>G	c.(781-783)gaT>gaG	p.D261E	SUMF1_uc003bps.2_Intron|SETMAR_uc003bpw.4_Missense_Mutation_p.D248E|SETMAR_uc011asq.2_Intron|SETMAR_uc003bpy.4_Intron|SETMAR_uc011asr.2_Intron|SETMAR_uc010hbx.3_Missense_Mutation_p.D56E	NM_006515	NP_006506	Q53H47	SETMR_HUMAN	Homo sapiens SET domain and mariner transposase fusion gene (SETMAR), transcript variant 1, mRNA.	248	Histone-lysine N-methyltransferase.				DNA integration|DNA repair|transposition, DNA-mediated	chromosome|nucleus	DNA binding|endonuclease activity|histone-lysine N-methyltransferase activity|transposase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)	9		Melanoma(143;0.0657)		Epithelial(13;0.0025)|OV - Ovarian serous cystadenocarcinoma(96;0.011)|all cancers(10;0.0114)		TCTCTTATGATTATTCAGGAA	0.383000								Chromatin Structure						38			14		0	0	1	0	0
ALG10B	144245	broad.mit.edu	37	12	38714922	38714922	+	Nonsense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:38714922C>A	uc001rln.4	+	2	1468	c.1329C>A	c.(1327-1329)tgC>tgA	p.C443*		NM_001013620	NP_001013642	Q5I7T1	AG10B_HUMAN	Homo sapiens asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog B (yeast) (ALG10B), mRNA.	443					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|plasma membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			breast(2)|kidney(3)|large_intestine(7)|lung(8)|ovary(4)|skin(1)	25	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)				AACTGAGTTGCTATGCAATTG	0.348000														119			74		1.08321e-29	1.42813e-29	1	1	0
MAP3K9	4293	broad.mit.edu	37	14	71206852	71206852	+	Missense_Mutation	SNP	A	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:71206852A>T	uc001xmm.3	-	6	1597	c.1597T>A	c.(1597-1599)Tcc>Acc	p.S533T	MAP3K9_uc010ttk.2_Missense_Mutation_p.S270T|MAP3K9_uc001xmk.3_Missense_Mutation_p.S227T|MAP3K9_uc001xml.3_Missense_Mutation_p.S533T	NM_033141	NP_149132	P80192	M3K9_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 9 (MAP3K9), mRNA.	533				KLKDGNRISLPSDFQHKFTVQASPT -> AQPVLPFPHGHS RCPGGTGSSWGGQ (in Ref. 4).	activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		ATGGTAGGGGAGGCCTGCACC	0.468000														54			6		0	0	1	0	0
KIAA1751	85452	broad.mit.edu	37	1	1888162	1888162	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:1888162C>T	uc001aim.1	-	16	2069	c.1913G>A	c.(1912-1914)cGg>cAg	p.R638Q	KIAA1751_uc009vkz.1_Missense_Mutation_p.R638Q	NM_001080484	NP_001073953	Q9C0B2	K1751_HUMAN	Homo sapiens KIAA1751 (KIAA1751), mRNA.	638										breast(1)|endometrium(5)|kidney(4)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	32	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;8.79e-39)|OV - Ovarian serous cystadenocarcinoma(86;9.61e-25)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;4.84e-05)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		CGTGATGGTCCGAGACGTGGT	0.592000														12			4		0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31320060	31320060	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:31320060C>T	uc010dmg.1	+	10	2747	c.2692C>T	c.(2692-2694)Cca>Tca	p.P898S	ASXL3_uc002kxq.2_Missense_Mutation_p.P605S	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA.	898					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						AAATGAGCTTCCATCTGCTAA	0.373000														49			16		0	0	1	0	0
ZMYND10	51364	broad.mit.edu	37	3	50381223	50381223	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:50381223G>T	uc003dag.1	-	2	406	c.260C>A	c.(259-261)cCt>cAt	p.P87H	RASSF1_uc003dad.1_5'Flank|RASSF1_uc003dae.1_5'Flank|RASSF1_uc003daf.1_5'Flank|RASSF1_uc010hlk.1_5'Flank|RASSF1_uc011bdq.1_5'Flank|ZMYND10_uc010hll.1_Missense_Mutation_p.P87H|ZMYND10_uc010hlm.1_Missense_Mutation_p.P44H	NM_015896	NP_056980	O75800	ZMY10_HUMAN	Homo sapiens zinc finger, MYND-type containing 10 (ZMYND10), mRNA.	87						cytoplasm	protein binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|urinary_tract(2)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		GCAGAACACAGGGAACACCTT	0.557000										TSP Lung(30;0.18)				72			13		5.50884e-06	6.15991e-06	1	1	0
PCDHGC5	56097	broad.mit.edu	37	5	140773877	140773877	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140773877G>A	uc003lkd.2	+	0	2395	c.1497G>A	c.(1495-1497)gcG>gcA	p.A499A	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkb.4_Silent_p.A499A|PCDHGC5_uc003lkc.2_Intron	NM_032088	NP_114477	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 8 (PCDHGA8), transcript variant 1, mRNA.	501	Cadherin 5.				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)			TGCAGGGGGCGCCCCTGTCCT	0.562000														15			19		0	0	1	0	0
EPHA10	284656	broad.mit.edu	37	1	38184381	38184381	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:38184381G>A	uc009vvi.3	-	15	2950	c.2864C>T	c.(2863-2865)gCg>gTg	p.A955V	EPHA10_uc001cbt.3_Non-coding_Transcript|EPHA10_uc009vvh.2_Non-coding_Transcript|EPHA10_uc001cbu.3_Non-coding_Transcript|EPHA10_uc001cbv.2_Non-coding_Transcript	NM_001099439	NP_001092909	Q5JZY3	EPHAA_HUMAN	Homo sapiens EPH receptor A10 (EPHA10), transcript variant 3, mRNA.	955	SAM.					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GCCAGCAGCCGCGAAGCTGTC	0.672000														27			17		0	0	1	0	0
SETX	23064	broad.mit.edu	37	9	135163640	135163640	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:135163640C>A	uc004cbk.3	-	16	6490	c.6307G>T	c.(6307-6309)Ggt>Tgt	p.G2103C	SETX_uc004cbj.3_Missense_Mutation_p.G1722C|SETX_uc010mzt.3_Missense_Mutation_p.G1722C	NM_015046	NP_055861	Q7Z333	SETX_HUMAN	Homo sapiens senataxin (SETX), mRNA.	2103					RNA processing|cell death|double-strand break repair	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		TCCCGTCCACCTCGGCATAGA	0.403000														25			4		0.00909568	0.00940365	1	1	0
H3F3C	440093	broad.mit.edu	37	12	31944956	31944956	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:31944956G>A	uc001rkr.3	-	0	220	c.145C>T	c.(145-147)Cga>Tga	p.R49*		NM_001013699	NP_001013721	Q6NXT2	H3C_HUMAN	Homo sapiens H3 histone, family 3C (H3F3C), mRNA.	49					nucleosome assembly	nucleosome|nucleus	DNA binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	18						CGAATCTCTCGAAGCGCCACG	0.602000										HNSCC(67;0.2)				26			20		0	0	1	0	0
ADNP2	22850	broad.mit.edu	37	18	77894587	77894587	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:77894587C>T	uc002lnw.3	+	3	1746	c.1291C>T	c.(1291-1293)Cag>Tag	p.Q431*		NM_014913	NP_055728	Q6IQ32	ADNP2_HUMAN	Homo sapiens ADNP homeobox 2 (ADNP2), mRNA.	431					cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		TGGGGTCCTGCAGGCTGTCTC	0.632000														39			16		0	0	1	0	0
HIPK2	28996	broad.mit.edu	37	7	139288934	139288934	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:139288934A>G	uc003vvf.4	-	9	2419	c.2148T>C	c.(2146-2148)ctT>ctC	p.L716L	HIPK2_uc003vvd.4_Silent_p.L689L	NM_022740	NP_073577	Q9H2X6	HIPK2_HUMAN	Homo sapiens homeodomain interacting protein kinase 2 (HIPK2), transcript variant 1, mRNA.	716	Interaction with SKI and SMAD1.				DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|SMAD protein signal transduction|apoptosis|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent|virus-host interaction	PML body|centrosome|nuclear membrane	ATP binding|SMAD binding|protein serine/threonine kinase activity|transcription corepressor activity|virion binding			breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					ATGCTGGGGGAAGCAGGATCT	0.562000														180			11		0	0	1	0	0
ZNF473	25888	broad.mit.edu	37	19	50550015	50550015	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:50550015G>A	uc002prn.3	+	4	2552	c.2315G>A	c.(2314-2316)tGc>tAc	p.C772Y	ZNF473_uc002prm.3_Missense_Mutation_p.C772Y|ZNF473_uc010ybo.2_Missense_Mutation_p.C760Y	NM_001006656	NP_056243	Q8WTR7	ZN473_HUMAN	Homo sapiens zinc finger protein 473 (ZNF473), transcript variant 2, mRNA.	772					histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		CAGAGCTCATGCCTTTCTATT	0.512000											OREG0025632	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		31			25		0	0	1	0	0
PUS7L	83448	broad.mit.edu	37	12	44148951	44148951	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:44148951T>C	uc001rns.4	-	1	178	c.98A>G	c.(97-99)gAc>gGc	p.D33G	PUS7L_uc001rnq.4_Missense_Mutation_p.D33G|PUS7L_uc001rnr.4_Missense_Mutation_p.D33G|PUS7L_uc009zkb.3_Intron	NM_031292	NP_112582	Q9H0K6	PUS7L_HUMAN	Homo sapiens pseudouridylate synthase 7 homolog (S. cerevisiae)-like (PUS7L), transcript variant 3, mRNA.	33					pseudouridine synthesis|tRNA processing		RNA binding|pseudouridine synthase activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)		GBM - Glioblastoma multiforme(48;0.0402)		AACAATAAAGTCACTTGGTGA	0.323000														35			26		0	0	1	0	0
AKNAD1	254268	broad.mit.edu	37	1	109359770	109359770	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:109359770C>A	uc001dwa.3	-	14	2548	c.2279G>T	c.(2278-2280)aGc>aTc	p.S760I	AKNAD1_uc001dwb.3_Non-coding_Transcript	NM_152763	NP_689976	Q5T1N1	AKND1_HUMAN	Homo sapiens AKNA domain containing 1 (AKNAD1), mRNA.	760										breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						AGGGTCTGAGCTGTAGGTCAT	0.453000														52			5		0.217242	0.21859	1	1	0
ARHGAP20	57569	broad.mit.edu	37	11	110451259	110451259	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:110451259G>A	uc001pkz.1	-	15	2696	c.2411C>T	c.(2410-2412)gCa>gTa	p.A804V	ARHGAP20_uc001pky.1_Missense_Mutation_p.A781V|ARHGAP20_uc009yyb.1_Missense_Mutation_p.A768V|ARHGAP20_uc001pla.1_Missense_Mutation_p.A768V|ARHGAP20_uc001plb.2_Missense_Mutation_p.A347V	NM_020809	NP_065860	Q9P2F6	RHG20_HUMAN	Homo sapiens Rho GTPase activating protein 20 (ARHGAP20), mRNA.	804					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		ACTATAAGATGCCACAGAAAT	0.448000														75			39		0	0	1	0	0
SLC12A5	57468	broad.mit.edu	37	20	44666019	44666019	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:44666019C>A	uc010zxl.1	+	5	752	c.676C>A	c.(676-678)Ctg>Atg	p.L226M	SLC12A5_uc002xra.2_Missense_Mutation_p.L203M|SLC12A5_uc010zxm.1_Intron|SLC12A5_uc002xrb.2_Missense_Mutation_p.L203M	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporter), member 5 (SLC12A5), transcript variant 1, mRNA.	226					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	CATCGAAATCCTGCTGGTAAG	0.577000														24			11		0.000978159	0.00103832	1	1	0
TLR7	51284	broad.mit.edu	37	X	12904193	12904193	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:12904193G>A	uc004cvc.3	+	2	705	c.566G>A	c.(565-567)tGt>tAt	p.C189Y		NM_016562	NP_057646	Q9NYK1	TLR7_HUMAN	Homo sapiens toll-like receptor 7 (TLR7), mRNA.	189					I-kappaB phosphorylation|cellular response to mechanical stimulus|defense response to virus|inflammatory response|innate immune response|positive regulation of NF-kappaB import into nucleus|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|siRNA binding|single-stranded RNA binding|transmembrane receptor activity			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Imiquimod(DB00724)	CGAAATCCTTGTTATGTTTCA	0.383000														58			7		0	0	1	0	0
ANKRD13A	88455	broad.mit.edu	37	12	110456215	110456215	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:110456215C>T	uc001tpx.3	+	4	725	c.466C>T	c.(466-468)Cgc>Tgc	p.R156C	ANKRD13A_uc009zvl.1_Non-coding_Transcript|ANKRD13A_uc009zvm.2_Missense_Mutation_p.R156C|ANKRD13A_uc010sxw.2_Missense_Mutation_p.R156C	NM_033121	NP_149112	Q8IZ07	AN13A_HUMAN	Homo sapiens ankyrin repeat domain 13A (ANKRD13A), mRNA.	156										endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(8)|lung(3)|urinary_tract(1)	16						TGCCAAACTGCGCGTCGATAT	0.438000														33			22		0	0	1	0	0
IGFN1	91156	broad.mit.edu	37	1	201187676	201187676	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:201187676C>T	uc001gwc.3	+	17	9918	c.9788C>T	c.(9787-9789)gCg>gTg	p.A3263V	IGFN1_uc001gwb.3_Non-coding_Transcript	NM_001164586	NP_001158058			Homo sapiens immunoglobulin-like and fibronectin type III domain containing 1 (IGFN1), mRNA.											autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						TGGACGGTGGCGGACGTGCGG	0.622000														16			14		0	0	1	0	0
RAP1GAP	5909	broad.mit.edu	37	1	21938056	21938056	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:21938056G>A	uc001bev.3	-	9	750	c.732C>T	c.(730-732)gaC>gaT	p.D244D	RAP1GAP_uc001bew.3_Silent_p.D308D|RAP1GAP_uc001bey.3_Silent_p.D244D|RAP1GAP_uc001bex.3_Silent_p.D244D	NM_001145657	NP_001139129	P47736	RPGP1_HUMAN	Homo sapiens RAP1 GTPase activating protein (RAP1GAP), transcript variant 2, mRNA.	244	Rap-GAP.				regulation of Ras GTPase activity|signal transduction	Golgi membrane|cytosol|membrane fraction	GTPase activator activity|GTPase activity|Ras GTPase binding|protein homodimerization activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)		CGTGGGTCACGTCCAGGCCTC	0.662000														38			22		0	0	1	0	0
CSF1R	1436	broad.mit.edu	37	5	149459812	149459812	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:149459812G>T	uc003lrl.3	-	2	590	c.395C>A	c.(394-396)cCg>cAg	p.P132Q	CSF1R_uc011dcd.2_5'UTR|CSF1R_uc010jhc.3_Non-coding_Transcript|CSF1R_uc003lrm.3_Missense_Mutation_p.P132Q|CSF1R_uc011dce.1_Missense_Mutation_p.P132Q|CSF1R_uc011dcf.2_Missense_Mutation_p.P132Q	NM_005211	NP_005202	P07333	CSF1R_HUMAN	Homo sapiens colony stimulating factor 1 receptor (CSF1R), mRNA.	132	Ig-like C2-type 2.				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	TTCCAGCACCGGGTCTGTGAG	0.642000														28			4		0.00024832	0.000267289	1	1	0
CLIC2	1193	broad.mit.edu	37	X	154528182	154528182	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:154528182G>T	uc004fnf.3	-	2	459	c.209C>A	c.(208-210)cCt>cAt	p.P70H	CLIC2_uc010nvj.1_Missense_Mutation_p.P88H	NM_001289	NP_001280	O15247	CLIC2_HUMAN	Homo sapiens chloride intracellular channel 2 (CLIC2), mRNA.	70	N-terminal.|Required for insertion into the membrane (By similarity).				signal transduction	chloride channel complex|cytoplasm|nucleus	voltage-gated chloride channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)	18	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CAGGAACGGAGGATTGGTACC	0.373000														55			28		1.5548e-18	1.99422e-18	1	1	0
PPIP5K2	23262	broad.mit.edu	37	5	102522049	102522049	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:102522049C>A	uc003kod.4	+	26	3717	c.3198C>A	c.(3196-3198)acC>acA	p.T1066T	PPIP5K2_uc011cva.2_Non-coding_Transcript|PPIP5K2_uc003koe.3_Silent_p.T1066T|PPIP5K2_uc003kof.3_Intron	NM_015216	NP_056031	O43314	VIP2_HUMAN	Homo sapiens diphosphoinositol pentakisphosphate kinase 2 (PPIP5K2), mRNA.	1066					inositol metabolic process	cytosol	ATP binding|acid phosphatase activity|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TGTTTAGCACCTCGGTGCTCG	0.493000														14			22		3.62473e-10	4.36059e-10	1	1	0
NUAK1	9891	broad.mit.edu	37	12	106460869	106460869	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:106460869C>T	uc001tlj.1	-	6	3077	c.1697G>A	c.(1696-1698)aGc>aAc	p.S566N		NM_014840	NP_055655	O60285	NUAK1_HUMAN	Homo sapiens NUAK family, SNF1-like kinase, 1 (NUAK1), mRNA.	566							ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.S566I(3)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						GGAAGGGCGGCTGTAGCTCCG	0.637000														19			15		0	0	1	0	0
JRKL	8690	broad.mit.edu	37	11	96125218	96125218	+	Nonsense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:96125218G>T	uc009ywu.3	+	1	1657	c.1405G>T	c.(1405-1407)Gaa>Taa	p.E469*	JRKL_uc021qpa.1_Intron|CCDC82_uc001pfx.4_5'Flank|CCDC82_uc009ywr.3_5'Flank|CCDC82_uc009ywt.1_5'Flank|JRKL_uc001pfy.2_Nonsense_Mutation_p.E469*	NM_003772	NP_003763	Q9Y4A0	JERKL_HUMAN	Homo sapiens jerky homolog-like (mouse) (JRKL), mRNA.	469					central nervous system development|regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding	p.E469*(2)		endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)		BRCA - Breast invasive adenocarcinoma(274;0.148)		GGAGGAAATAGAACTAATTCC	0.403000														26			21		2.4624e-09	2.92908e-09	1	1	0
PLCH1	23007	broad.mit.edu	37	3	155311772	155311772	+	Missense_Mutation	SNP	C	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:155311772C>G	uc021xge.1	-	2	669	c.392G>C	c.(391-393)aGt>aCt	p.S131T	PLCH1_uc021xgd.1_Missense_Mutation_p.S131T|PLCH1_uc021xgf.1_Missense_Mutation_p.S113T	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Homo sapiens phospholipase C, eta 1 (PLCH1), transcript variant 1, mRNA.	131					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GTCTTCATCACTGATGCCAGC	0.527000														30			11		0	0	1	0	0
NOTUM	147111	broad.mit.edu	37	17	79916837	79916837	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:79916837G>A	uc010wvg.2	-	3	779	c.507C>T	c.(505-507)aaC>aaT	p.N169N		NM_178493	NP_848588	Q6P988	NOTUM_HUMAN	Homo sapiens notum pectinacetylesterase homolog (Drosophila) (NOTUM), mRNA.	169						extracellular region	hydrolase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	15	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			ACCAGTAGGGGTTCTCCTCCG	0.632000														30			20		0	0	1	0	0
DYNC1LI2	1783	broad.mit.edu	37	16	66762943	66762943	+	Splice_Site	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:66762943C>A	uc002eqb.1	-	9	1132	c.1101_splice	c.e9+1	p.Q367_splice	DYNC1LI2_uc010vis.1_Splice_Site_p.Q290_splice	NM_006141	NP_006132	O43237	DC1L2_HUMAN	Homo sapiens dynein, cytoplasmic 1, light intermediate chain 2 (DYNC1LI2), mRNA.	367					transport	centrosome|cytoplasmic dynein complex|microtubule	ATP binding|motor activity			central_nervous_system(3)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(4)|stomach(1)	15		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0907)|Epithelial(162;0.212)		GTCTTCTTACCTGTTGCTTCA	0.498000											OREG0023862	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		138			10		2.80697e-09	3.3309e-09	1	1	0
FAT1	2195	broad.mit.edu	37	4	187541117	187541117	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:187541117C>T	uc003izf.3	-	9	6811	c.6623G>A	c.(6622-6624)aGc>aAc	p.S2208N		NM_005245	NP_005236	Q14517	FAT1_HUMAN	Homo sapiens FAT tumor suppressor homolog 1 (Drosophila) (FAT1), mRNA.	2208	Cadherin 20.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GCCTTCCGGGCTGTTAGCCTG	0.478000										HNSCC(5;0.00058)				91			47		0	0	1	0	0
MIOS	54468	broad.mit.edu	37	7	7625343	7625343	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:7625343G>A	uc003srf.3	+	6	2033	c.1725G>A	c.(1723-1725)atG>atA	p.M575I	MIOS_uc003srg.3_Missense_Mutation_p.M110I|MIOS_uc010ktq.3_5'UTR	NM_019005	NP_061878	Q9NXC5	MIO_HUMAN	Homo sapiens missing oocyte, meiosis regulator, homolog (Drosophila) (MIOS), mRNA.	575										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GGAGAGAAATGTGTAGCACAC	0.408000														99			128		0	0	1	0	0
ST5	6764	broad.mit.edu	37	11	8720914	8720914	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:8720914G>A	uc001mgt.3	-	14	2930	c.2744C>T	c.(2743-2745)gCg>gTg	p.A915V	ST5_uc009yfr.3_Missense_Mutation_p.A495V|ST5_uc001mgu.3_Missense_Mutation_p.A495V|ST5_uc001mgv.3_Missense_Mutation_p.A915V|ST5_uc010rbp.2_Missense_Mutation_p.A428V	NM_213618	NP_998783	P78524	ST5_HUMAN	Homo sapiens suppression of tumorigenicity 5 (ST5), transcript variant 3, mRNA.	915	DENN.				positive regulation of ERK1 and ERK2 cascade		protein binding			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		GGCCACCACCGCGTGGGAGCA	0.617000														23			10		0	0	1	0	0
SLC10A6	345274	broad.mit.edu	37	4	87752964	87752964	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:87752964T>C	uc003hqd.2	-	2	714	c.566A>G	c.(565-567)cAa>cGa	p.Q189R		NM_197965	NP_932069	Q3KNW5	SOAT_HUMAN	Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 6 (SLC10A6), mRNA.	189						integral to membrane|plasma membrane	bile acid:sodium symporter activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	9		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.00099)		GATTTTGGATTGTTTTGGCCA	0.473000														11			9		0	0	1	0	0
OR51E1	143503	broad.mit.edu	37	11	4674065	4674065	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:4674065G>T	uc021qcq.1	+	0	309	c.309G>T	c.(307-309)caG>caT	p.Q103H	OR51E1_uc001lzi.4_Missense_Mutation_p.Q103H	NM_152430	NP_689643	Q8TCB6	O51E1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily E, member 1 (OR51E1), mRNA.	102					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2)	30		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)		GTCTGCTACAGATGTTTGCCA	0.517000														49			6		0.00116845	0.00123466	1	1	0
SLCO4C1	353189	broad.mit.edu	37	5	101593758	101593758	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:101593758C>A	uc003knm.3	-	6	1449	c.1162G>T	c.(1162-1164)Gtt>Ttt	p.V388F		NM_180991	NP_851322	Q6ZQN7	SO4C1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 4C1 (SLCO4C1), mRNA.	388					cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		GTTGATAGAACTAAACACATA	0.313000														49			7		8.12818e-05	8.84769e-05	1	1	0
RNF165	494470	broad.mit.edu	37	18	44027652	44027652	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:44027652G>T	uc002lcb.1	+	3	663	c.612G>T	c.(610-612)caG>caT	p.Q204H	RNF165_uc002lby.1_Missense_Mutation_p.Q137H|RNF165_uc010dnn.1_5'UTR	NM_152470	NP_689683	Q6ZSG1	RN165_HUMAN	Homo sapiens ring finger protein 165 (RNF165), mRNA.	204							zinc ion binding			NS(1)|large_intestine(4)|lung(6)	11				READ - Rectum adenocarcinoma(1;0.0873)		CCTCCACACAGATGGTAAGTG	0.582000														50			36		1.836e-18	2.35332e-18	1	1	0
UBE2D4	51619	broad.mit.edu	37	7	43982631	43982631	+	Splice_Site	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:43982631G>T	uc003tja.2	+	4	295	c.198_splice	c.e4+1	p.K66_splice	POLR2J4_uc003tjc.2_Non-coding_Transcript|UBE2D4_uc003tjb.2_Splice_Site_p.K28_splice	NM_015983	NP_057067	Q9Y2X8	UB2D4_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2D 4 (putative) (UBE2D4), mRNA.	66					protein K11-linked ubiquitination|protein K27-linked ubiquitination|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|protein K63-linked ubiquitination		ATP binding|protein binding|ubiquitin-protein ligase activity			endometrium(1)|large_intestine(2)|lung(1)|pancreas(1)	5						GCCCCCAAAGGTGAGGTCCCT	0.498000														51			54		6.60958e-23	8.59625e-23	1	1	0
MED1	5469	broad.mit.edu	37	17	37566109	37566109	+	Nonsense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:37566109C>A	uc002hrv.4	-	16	2577	c.2365G>T	c.(2365-2367)Gaa>Taa	p.E789*	MED1_uc010wee.2_Nonsense_Mutation_p.E617*|MED1_uc002hru.2_Intron	NM_004774	NP_004765	Q15648	MED1_HUMAN	Homo sapiens mediator complex subunit 1 (MED1), mRNA.	789	Interaction with ESR1.|Interaction with VDR.				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|RNA polymerase II transcription cofactor activity|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|thyroid hormone receptor binding|vitamin D receptor binding			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		TTAGAAGCTTCTTCTGCAATG	0.488000										HNSCC(31;0.082)				79			10		2.17888e-05	2.40634e-05	1	1	0
ADORA1	134	broad.mit.edu	37	1	203098113	203098113	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:203098113C>T	uc010pqh.1	+	1	280	c.243C>T	c.(241-243)atC>atT	p.I81I	ADORA1_uc001gzf.1_Silent_p.I48I|ADORA1_uc001gze.1_Silent_p.I48I|ADORA1_uc010pqg.1_5'UTR|ADORA1_uc009xak.1_5'UTR	NM_001048230	NP_001041695	P30542	AA1R_HUMAN	Homo sapiens adenosine A1 receptor (ADORA1), transcript variant 2, mRNA.	48					induction of apoptosis by extracellular signals|inflammatory response|nervous system development|phagocytosis	integral to plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(9)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25					Aminophylline(DB01223)|Caffeine(DB00201)|Defibrotide(DB04932)|Gabapentin(DB00996)|Imipramine(DB00458)|Pegademase bovine(DB00061)|Theophylline(DB00277)	TCTGCTTCATCGTGTCGCTGG	0.632000														57			64		0	0	1	0	0
CXorf23	256643	broad.mit.edu	37	X	19983521	19983521	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:19983521C>A	uc004czp.3	-	2	915	c.915G>T	c.(913-915)aaG>aaT	p.K305N	CXorf23_uc011mjg.2_5'UTR|CXorf23_uc004czo.3_Missense_Mutation_p.K255N	NM_198279	NP_938020	A2AJT9	CX023_HUMAN	Homo sapiens chromosome X open reading frame 23 (CXorf23), mRNA.	305						mitochondrion				endometrium(2)|large_intestine(1)|lung(6)|skin(1)|urinary_tract(1)	11						TATCTTCTTCCTTACAGTACT	0.403000														62			61		1.4709e-25	1.92584e-25	1	1	0
FXR1	8087	broad.mit.edu	37	3	180685891	180685891	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:180685891C>T	uc003fkq.3	+	13	1491	c.1251C>T	c.(1249-1251)gaC>gaT	p.D417D	FXR1_uc003fkp.3_Silent_p.D332D|FXR1_uc003fkr.3_Silent_p.D417D|FXR1_uc011bqj.2_Silent_p.D331D|FXR1_uc003fks.3_Silent_p.D360D|FXR1_uc011bqk.2_Silent_p.D368D|FXR1_uc011bql.2_Silent_p.D404D	NM_005087	NP_001013457	P51114	FXR1_HUMAN	Homo sapiens fragile X mental retardation, autosomal homolog 1 (FXR1), transcript variant 1, mRNA.	417					apoptosis|cell differentiation|muscle organ development	nucleolus|polysome				breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2)	26	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)			AGCGTAAAGACGAGCTGAGTG	0.463000														40			31		0	0	1	0	0
ZNF592	9640	broad.mit.edu	37	15	85342424	85342424	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:85342424G>T	uc002bld.3	+	8	3456	c.3120G>T	c.(3118-3120)aaG>aaT	p.K1040N	ZNF592_uc010upb.2_Non-coding_Transcript	NM_014630	NP_055445	Q92610	ZN592_HUMAN	Homo sapiens zinc finger protein 592 (ZNF592), mRNA.	1040					cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			ACACAGTAAAGAAGTTCTACA	0.547000														96			18		4.81078e-24	6.2772e-24	1	1	0
GCM1	8521	broad.mit.edu	37	6	52993010	52993010	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:52993010C>T	uc003pbp.3	-	5	1514	c.1305G>A	c.(1303-1305)ttG>ttA	p.L435L		NM_003643	NP_003634	Q9NP62	GCM1_HUMAN	Homo sapiens glial cells missing homolog 1 (Drosophila) (GCM1), mRNA.	435						transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1)	24	Lung NSC(77;0.0755)					TGGGTCATCTCAAAGGACACA	0.418000														123			83		0	0	1	0	0
ACSL3	2181	broad.mit.edu	37	2	223806295	223806295	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:223806295G>T	uc002vni.3	+	16	2537	c.2086G>T	c.(2086-2088)Gat>Tat	p.D696Y	ACSL3_uc002vnj.3_Missense_Mutation_p.D696Y	NM_004457	NP_976251	O95573	ACSL3_HUMAN	Homo sapiens acyl-CoA synthetase long-chain family member 3 (ACSL3), transcript variant 1, mRNA.	696					long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|fatty-acyl-CoA synthase activity|long-chain fatty acid-CoA ligase activity|protein binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)|skin(2)	22		Renal(207;0.0183)		Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864)	Icosapent(DB00159)	TCTGGTGACAGATGCCTTCAA	0.388000			T	ETV1	prostate									82			11		3.86212e-05	4.23294e-05	1	1	0
HHAT	55733	broad.mit.edu	37	1	210796895	210796895	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:210796895G>A	uc010psr.2	+	9	1379	c.1274G>A	c.(1273-1275)cGc>cAc	p.R425H	HHAT_uc009xcx.3_Missense_Mutation_p.R424H|HHAT_uc010psq.2_Missense_Mutation_p.R287H|HHAT_uc009xcy.3_Missense_Mutation_p.R359H|HHAT_uc010pss.2_Missense_Mutation_p.R379H|HHAT_uc010pst.2_Missense_Mutation_p.R361H|HHAT_uc001hhz.4_Missense_Mutation_p.R424H|HHAT_uc021pip.1_Missense_Mutation_p.R424H|HHAT_uc010psu.2_Missense_Mutation_p.R359H|HHAT_uc001hia.4_Missense_Mutation_p.R114H	NM_001170587	NP_001164058	Q5VTY9	HHAT_HUMAN	Homo sapiens hedgehog acyltransferase (HHAT), transcript variant 5, mRNA.	424					multicellular organismal development	endoplasmic reticulum membrane|integral to membrane	GTP binding			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)		CCACAAGCTCGCCGTCGATTC	0.512000														203			98		0	0	1	0	0
SYNDIG1	79953	broad.mit.edu	37	20	24523832	24523832	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:24523832C>T	uc002wtw.1	+	1	732	c.99C>T	c.(97-99)gcC>gcT	p.A33A		NM_024893	NP_079169	Q9H7V2	SYNG1_HUMAN	Homo sapiens synapse differentiation inducing 1 (SYNDIG1), mRNA.	33					response to biotic stimulus	early endosome membrane|integral to membrane|plasma membrane				breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						ACTTGATGGCCGAGAGCAGAG	0.552000														59			20		0	0	1	0	0
TAF2	6873	broad.mit.edu	37	8	120818592	120818592	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:120818592C>T	uc003you.3	-	3	619	c.349G>A	c.(349-351)Gtg>Atg	p.V117M		NM_003184	NP_003175	Q6P1X5	TAF2_HUMAN	Homo sapiens TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa (TAF2), mRNA.	117					G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TCAGGGTCCACAGCACTAACT	0.398000														152			10		0	0	1	0	0
SRGAP1	57522	broad.mit.edu	37	12	64502780	64502780	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:64502780C>A	uc010ssp.1	+	15	1938	c.1882C>A	c.(1882-1884)Ctt>Att	p.L628I	SRGAP1_uc001srv.2_Missense_Mutation_p.L565I	NM_020762	NP_065813	Q7Z6B7	SRGP1_HUMAN	Homo sapiens SLIT-ROBO Rho GTPase activating protein 1 (SRGAP1), mRNA.	628	Rho-GAP.				axon guidance	cytosol				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		CAGGTCGGTCCTTATAGTGAT	0.463000														77			6		1	1	1	1	0
PRUNE2	158471	broad.mit.edu	37	9	79321301	79321301	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:79321301C>A	uc010mpk.3	-	7	6013	c.5889G>T	c.(5887-5889)atG>atT	p.M1963I	PRUNE2_uc004akj.4_5'Flank|PRUNE2_uc022big.1_5'Flank|PRUNE2_uc010mpl.1_5'Flank|PRUNE2_uc022bih.1_Missense_Mutation_p.M1785I	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA.	1963					G1 phase|apoptosis|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						AGACTGGCAGCATGGTGTCCT	0.438000														99			9		0.0692343	0.0703432	1	1	0
RYR3	6263	broad.mit.edu	37	15	33955767	33955767	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:33955767C>T	uc001zhi.3	+	35	5518	c.5448C>T	c.(5446-5448)gaC>gaT	p.D1816D	RYR3_uc010bar.3_Silent_p.D1816D	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	1816	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		ATCTCTGCGACTGTGAGCTGC	0.468000														20			6		0	0	1	0	0
KIAA1549	57670	broad.mit.edu	37	7	138603454	138603454	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:138603454C>A	uc011kql.2	-	1	967	c.918G>T	c.(916-918)gaG>gaT	p.E306D	KIAA1549_uc011kqj.2_Missense_Mutation_p.E306D	NM_001164665	NP_001158137	Q9HCM3	K1549_HUMAN	Homo sapiens KIAA1549 (KIAA1549), transcript variant 2, mRNA.	306						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						GCTGTGAGACCTCCCCCAAGG	0.512000			O	BRAF	pilocytic astrocytoma									88			11		9.70103e-10	1.16071e-09	1	1	0
P2RY6	5031	broad.mit.edu	37	11	73007793	73007793	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:73007793G>A	uc021qnb.1	+	0	230	c.230G>A	c.(229-231)tGc>tAc	p.C77Y	P2RY6_uc001otm.3_Missense_Mutation_p.C77Y|P2RY6_uc001otn.3_Missense_Mutation_p.C77Y|P2RY6_uc001otq.3_Missense_Mutation_p.C77Y|P2RY6_uc001otr.3_Missense_Mutation_p.C77Y|P2RY6_uc001ots.3_Missense_Mutation_p.C77Y	NM_176798	NP_789768	Q15077	P2RY6_HUMAN	Homo sapiens pyrimidinergic receptor P2Y, G-protein coupled, 6 (P2RY6), transcript variant 2, mRNA.	77					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)	14						CTATATGCCTGCTCCCTGCCC	0.597000														130			18		0	0	1	0	0
OGT	8473	broad.mit.edu	37	X	70783181	70783181	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:70783181G>A	uc004eaa.2	+	17	2506	c.2268G>A	c.(2266-2268)atG>atA	p.M756I	BCYRN1_uc011mpt.1_Intron|OGT_uc004eab.2_Missense_Mutation_p.M746I|OGT_uc004eac.3_Missense_Mutation_p.M617I|OGT_uc004ead.3_Missense_Mutation_p.M375I	NM_181672	NP_858058	O15294	OGT1_HUMAN	Homo sapiens O-linked N-acetylglucosamine (GlcNAc) transferase (UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase) (OGT), transcript variant 1, mRNA.	756					cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	MLL5-L complex|cytosol	enzyme activator activity|protein N-acetylglucosaminyltransferase activity|protein binding			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					TTTTTCAGATGAAGTGTCCTG	0.353000														55			45		0	0	1	0	0
BEND3	57673	broad.mit.edu	37	6	107390799	107390799	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:107390799C>T	uc003prs.2	-	4	2246	c.1596G>A	c.(1594-1596)gtG>gtA	p.V532V		NM_001080450	NP_001073919	Q5T5X7	BEND3_HUMAN	Homo sapiens BEN domain containing 3 (BEND3), mRNA.	532										central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						AGTCGATGGGCACCAGCCAGA	0.622000														27			18		0	0	1	0	0
MTF2	22823	broad.mit.edu	37	1	93602428	93602428	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:93602428G>A	uc009wdj.3	+	14	1918	c.1626G>A	c.(1624-1626)gaG>gaA	p.E542E	MTF2_uc010oth.2_Silent_p.E440E|MTF2_uc009wdk.3_Silent_p.E485E|MTF2_uc010oti.2_Silent_p.E440E|MTF2_uc001dpi.4_Silent_p.E269E|MTF2_uc001dpl.4_Silent_p.E440E|MTF2_uc001dpm.4_Silent_p.E211E	NM_007358	NP_031384	Q9Y483	MTF2_HUMAN	Homo sapiens metal response element binding transcription factor 2 (MTF2), transcript variant 1, mRNA.	542						nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(203;0.00196)|Lung NSC(277;0.00902)|Melanoma(281;0.099)|Ovarian(761;0.109)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00076)|GBM - Glioblastoma multiforme(16;0.00157)|Epithelial(280;0.0886)		CAGATCAGGAGTTACAACTCA	0.388000														66			95		0	0	1	0	0
BRCA1	672	broad.mit.edu	37	17	41244542	41244542	+	Missense_Mutation	SNP	G	T	T	rs80357601		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:41244542G>T	uc002icq.3	-	9	3238	c.3006C>A	c.(3004-3006)aaC>aaA	p.N1002K	BRCA1_uc010whp.2_Intron|BRCA1_uc010whl.2_Intron|BRCA1_uc010whm.2_Intron|BRCA1_uc002icp.4_Missense_Mutation_p.N931K|BRCA1_uc002icu.3_Intron|BRCA1_uc010cyx.3_Missense_Mutation_p.N955K|BRCA1_uc002ict.3_Missense_Mutation_p.N1002K|BRCA1_uc010whn.2_Intron|BRCA1_uc010who.2_Intron|BRCA1_uc010whq.1_Intron|BRCA1_uc002idc.1_Intron|BRCA1_uc010whr.1_Intron|BRCA1_uc002idd.3_Missense_Mutation_p.N1002K|BRCA1_uc002ide.1_Missense_Mutation_p.N833K|BRCA1_uc010cyy.1_Missense_Mutation_p.N1002K|BRCA1_uc010whs.1_Missense_Mutation_p.N1002K|BRCA1_uc010cyz.2_Missense_Mutation_p.N955K|BRCA1_uc010cza.2_Missense_Mutation_p.N976K|BRCA1_uc010wht.1_Missense_Mutation_p.N706K	NM_007294	NP_009228	P38398	BRCA1_HUMAN	Homo sapiens breast cancer 1, early onset (BRCA1), transcript variant 1, mRNA.	1002					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|G2/M transition DNA damage checkpoint|androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|double-strand break repair via homologous recombination|fatty acid biosynthetic process|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of DNA repair|positive regulation of cell cycle arrest|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of histone acetylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein K6-linked ubiquitination|protein autoubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	RNA binding|androgen receptor binding|identical protein binding|protein binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GTTCCTCAAAGTTTTCCTCTA	0.333000			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)				77			64		1.31171e-36	1.7398e-36	1	1	0
ADRA1B	147	broad.mit.edu	37	5	159344282	159344282	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:159344282G>A	uc003lxt.1	+	0	543	c.370G>A	c.(370-372)Gtg>Atg	p.V124M		NM_000679	NP_000670	P35368	ADA1B_HUMAN	Homo sapiens adrenergic, alpha-1B-, receptor (ADRA1B), mRNA.	124					G-protein signaling, coupled to cAMP nucleotide second messenger|cell proliferation|cell-cell signaling|intracellular protein kinase cascade	integral to plasma membrane	alpha1-adrenergic receptor activity			endometrium(3)|large_intestine(6)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Modafinil(DB00745)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Olanzapine(DB00334)|Phendimetrazine(DB01579)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Trazodone(DB00656)	CTGGGCAGCCGTGGATGTCCT	0.617000														33			25		0	0	1	0	0
ESRRA	2101	broad.mit.edu	37	11	64081741	64081741	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:64081741G>A	uc001nzq.1	+	3	650	c.473G>A	c.(472-474)cGg>cAg	p.R158Q	ESRRA_uc001nzr.1_Missense_Mutation_p.R158Q|ESRRA_uc001nzs.1_Missense_Mutation_p.R158Q|ESRRA_uc009ypn.1_Non-coding_Transcript|ESRRA_uc021qku.1_5'Flank	NM_004451	NP_004442	P11474	ERR1_HUMAN	Homo sapiens estrogen-related receptor alpha (ESRRA), mRNA.	158					positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein domain specific binding|sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(8)	14						CGGGGTGGGCGGCAGAAGTAC	0.682000														8			12		0	0	1	0	0
AVPR2	554	broad.mit.edu	37	X	153171513	153171513	+	Missense_Mutation	SNP	G	T	T	rs104894748		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153171513G>T	uc004fjh.4	+	1	725	c.553G>T	c.(553-555)Ggt>Tgt	p.G185C	AVPR2_uc004fjg.4_5'UTR|AVPR2_uc004fji.3_Missense_Mutation_p.G185C	NM_000054	NP_000045	P30518	V2R_HUMAN	Homo sapiens arginine vasopressin receptor 2 (AVPR2), transcript variant 1, mRNA.	185			G -> C (in XNDI).		G-protein signaling, coupled to cAMP nucleotide second messenger|activation of adenylate cyclase activity|excretion|hemostasis|positive regulation of gene expression|transmembrane transport|water transport	Golgi apparatus|endoplasmic reticulum|endosome|integral to plasma membrane	vasopressin receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	26	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Conivaptan(DB00872)|Terlipressin(DB02638)|Vasopressin(DB00067)	CAACGTGGAAGGTGGCAGCGG	0.642000														43			5		1.23904e-05	1.3743e-05	1	1	0
IWS1	55677	broad.mit.edu	37	2	128252448	128252448	+	Splice_Site	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:128252448T>G	uc002ton.2	-	8	2102	c.1799_splice	c.e8+1	p.K600_splice	IWS1_uc010yzl.1_Splice_Site	NM_017969	NP_060439	Q96ST2	IWS1_HUMAN	Homo sapiens IWS1 homolog (S. cerevisiae) (IWS1), mRNA.	600					transcription, DNA-dependent	nucleus	DNA binding			cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		AAATACTTACTTCTTAAGGTG	0.289000														38			4		0	0	1	0	0
GPR141	353345	broad.mit.edu	37	7	37780630	37780630	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:37780630G>A	uc003tfm.1	+	0	635	c.635G>A	c.(634-636)cGc>cAc	p.R212H	BC043356_uc003tfl.3_Intron	NM_181791	NP_861456	Q7Z602	GP141_HUMAN	Homo sapiens G protein-coupled receptor 141 (GPR141), mRNA.	212						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CAGAAGCTACGCCACTCTTTA	0.413000														149			49		0	0	1	0	0
TBC1D10A	83874	broad.mit.edu	37	22	30688802	30688802	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:30688802G>A	uc010gvu.3	-	8	1195	c.1110C>T	c.(1108-1110)cgC>cgT	p.R370R	TBC1D10A_uc003ahf.3_Non-coding_Transcript|TBC1D10A_uc003ahg.3_Intron|TBC1D10A_uc003ahh.3_Intron|TBC1D10A_uc003ahi.3_Silent_p.R221R|TBC1D10A_uc010gvq.3_Intron|TBC1D10A_uc003ahk.4_Silent_p.R363R	NM_001204240	NP_001191169	Q9BXI6	TB10A_HUMAN	Homo sapiens TBC1 domain family, member 10A (TBC1D10A), transcript variant 1, mRNA.	363						intracellular|microvillus	PDZ domain binding|Rab GTPase activator activity|guanyl-nucleotide exchange factor activity	p.R370L(1)		cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						TGAGGTGTTCGCGCTCAATCT	0.637000														16			15		0	0	1	0	0
EMR2	30817	broad.mit.edu	37	19	14877859	14877859	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:14877859G>T	uc002mzp.1	-	5	874	c.418C>A	c.(418-420)Ctc>Atc	p.L140I	EMR2_uc010dzs.1_5'Flank|EMR2_uc010xnw.1_Missense_Mutation_p.L140I|EMR2_uc002mzo.1_Missense_Mutation_p.L140I|EMR2_uc002mzq.1_Missense_Mutation_p.L140I|EMR2_uc002mzr.1_Missense_Mutation_p.L140I|EMR2_uc002mzs.1_Intron|EMR2_uc002mzt.1_Intron|EMR2_uc002mzu.1_Intron|EMR2_uc010xnx.1_Non-coding_Transcript|EMR2_uc010xny.1_Non-coding_Transcript	NM_013447	NP_038475	Q9UHX3	EMR2_HUMAN	Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 2 (EMR2), transcript variant 1, mRNA.	140	EGF-like 3; calcium-binding.				cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						TAGCTGCCGAGGGTGTTGACG	0.582000														24			6		0.000157383	0.000170012	1	1	0
SLC7A9	11136	broad.mit.edu	37	19	33334843	33334843	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:33334843G>A	uc002ntv.4	-	9	1109	c.992C>T	c.(991-993)gCg>gTg	p.A331V	SLC7A9_uc002ntt.4_Intron|SLC7A9_uc002ntu.4_Missense_Mutation_p.A331V|SLC7A9_uc021usa.1_Missense_Mutation_p.A331V|SLC7A9_uc002ntw.4_Missense_Mutation_p.A122V	NM_001126335	NP_055085	P82251	BAT1_HUMAN	Homo sapiens solute carrier family 7 (glycoprotein-associated amino acid transporter light chain, bo,+ system), member 9 (SLC7A9), transcript variant 2, mRNA.	331			A -> V (in CSNU; non-classic type I).		blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	integral to plasma membrane	L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32	Esophageal squamous(110;0.137)				L-Cystine(DB00138)	CTCCCGGCCCGCCACGTAAAT	0.572000														7			13		0	0	1	0	0
GCOM1	145781	broad.mit.edu	37	15	57924668	57924668	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:57924668C>T	uc002aei.3	+	6	846	c.715C>T	c.(715-717)Cga>Tga	p.R239*	GCOM1_uc002aej.3_Nonsense_Mutation_p.R239*|GCOM1_uc002aek.3_Non-coding_Transcript|GCOM1_uc002ael.3_Non-coding_Transcript|GCOM1_uc002aem.3_Nonsense_Mutation_p.R239*|GCOM1_uc002aep.3_Non-coding_Transcript|GCOM1_uc010bfx.3_Non-coding_Transcript|GCOM1_uc002aeq.3_Non-coding_Transcript|GCOM1_uc002aen.3_Non-coding_Transcript|GCOM1_uc010bfy.3_Non-coding_Transcript|GCOM1_uc002aeo.3_Nonsense_Mutation_p.R239*	NM_001018100	NP_001018110	P0CAP1	GCOM1_HUMAN	Homo sapiens myocardial zonula adherens protein (MYZAP), transcript variant 1, mRNA.	239					intracellular signal transduction	I band|extrinsic to internal side of plasma membrane				endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1)	18						TGAGGTGATGCGAGAGATGAC	0.512000														47			29		0	0	1	0	0
PHLPP2	23035	broad.mit.edu	37	16	71683149	71683149	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:71683149G>A	uc002fax.3	-	17	3622	c.3616C>T	c.(3616-3618)Cga>Tga	p.R1206*	PHLPP2_uc002fav.3_Intron|PHLPP2_uc010cgf.3_Nonsense_Mutation_p.R1139*|PHLPP2_uc021tkv.1_5'Flank	NM_015020	NP_055835	Q6ZVD8	PHLP2_HUMAN	Homo sapiens PH domain and leucine rich repeat protein phosphatase 2 (PHLPP2), mRNA.	1206						cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity	p.R1206Q(1)		central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						TTCTGTCTTCGGATCCCAAAA	0.532000														74			9		0	0	1	0	0
GBE1	2632	broad.mit.edu	37	3	81584433	81584433	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:81584433A>G	uc021xav.1	-	13	2129	c.1847T>C	c.(1846-1848)tTt>tCt	p.F616S	GBE1_uc021xax.1_Missense_Mutation_p.F575S	NM_000158	NP_000149	Q04446	GLGB_HUMAN	Homo sapiens glucan (1,4-alpha-), branching enzyme 1 (GBE1), mRNA.	616					glucose metabolic process|glycogen biosynthetic process	cytosol	1,4-alpha-glucan branching enzyme activity|cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			breast(1)|endometrium(5)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Lung NSC(201;0.0117)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0654)|Epithelial(33;0.00305)|LUSC - Lung squamous cell carcinoma(29;0.00646)|BRCA - Breast invasive adenocarcinoma(55;0.00813)|Lung(72;0.0129)|KIRC - Kidney renal clear cell carcinoma(39;0.212)|Kidney(39;0.247)		TGCTCTTTCAAAAGCAATGAT	0.388000									Glycogen Storage Disease, type IV					44			4		0	0	1	0	0
HS6ST2	90161	broad.mit.edu	37	X	132092321	132092321	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:132092321G>A	uc011mvd.1	-	1	726	c.310C>T	c.(310-312)Cgc>Tgc	p.R104C	HS6ST2_uc011mvb.1_5'Flank|HS6ST2_uc011mvc.1_5'Flank|HS6ST2_uc011mve.1_Missense_Mutation_p.R104C	NM_001077188	NP_001070656	Q96MM7	H6ST2_HUMAN	Homo sapiens heparan sulfate 6-O-sulfotransferase 2 (HS6ST2), transcript variant L, mRNA.	104						integral to membrane	sulfotransferase activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2)	9	Acute lymphoblastic leukemia(192;0.000127)					AGGTCCCAGCGTCGCCTGAGG	0.721000														9			3		0	0	1	0	0
HLA-E	3133	broad.mit.edu	37	6	30459017	30459017	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:30459017G>A	uc011dmh.2	+	2	864	c.837G>A	c.(835-837)tgG>tgA	p.W279*	HLA-E_uc011dmg.2_Non-coding_Transcript|HLA-E_uc003nqg.3_Nonsense_Mutation_p.W238*			P13747	HLAE_HUMAN	Homo sapiens major histocompatibility complex, class I, E (HLA-E), mRNA.	238	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	MHC class I protein complex|integral to membrane	MHC class I receptor activity			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(2)|lung(1)|ovary(3)|skin(1)|urinary_tract(1)	18						CACTGACCTGGCAGCAGGATG	0.632000														53			31		0	0	1	0	0
DPM1	8813	broad.mit.edu	37	20	49562425	49562425	+	Nonsense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:49562425C>A	uc002xvw.1	-	3	331	c.331G>T	c.(331-333)Gga>Tga	p.G111*	DPM1_uc002xvx.1_Non-coding_Transcript	NM_003859	NP_003850	O60762	DPM1_HUMAN	Homo sapiens dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit (DPM1), mRNA.	111					C-terminal protein lipidation|GPI anchor biosynthetic process|dolichol metabolic process|dolichol-linked oligosaccharide biosynthetic process|protein N-linked glycosylation via asparagine|protein O-linked mannosylation	dolichol-phosphate-mannose synthase complex|endoplasmic reticulum membrane|membrane fraction	dolichyl-phosphate beta-D-mannosyltransferase activity|dolichyl-phosphate-mannose-protein mannosyltransferase activity|protein binding			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	7						ATGTAGTTTCCTGTGGCATGT	0.323000														37			23		2.41591e-17	3.07667e-17	1	1	0
TECTA	7007	broad.mit.edu	37	11	121032925	121032925	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:121032925G>A	uc010rzo.2	+	14	5118	c.5118G>A	c.(5116-5118)ggG>ggA	p.G1706G		NM_005422	NP_005413	O75443	TECTA_HUMAN	Homo sapiens tectorin alpha (TECTA), mRNA.	1706					cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		CCTGCTATGGGCTTCTCGATC	0.587000														37			18		0	0	1	0	0
F7	2155	broad.mit.edu	37	13	113772785	113772785	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:113772785C>A	uc001vsv.3	+	8	915	c.864C>A	c.(862-864)gtC>gtA	p.V288V	F7_uc001vsw.3_Silent_p.V266V|F7_uc010tjt.2_Silent_p.V219V	NM_000131	NP_000122	P08709	FA7_HUMAN	Homo sapiens coagulation factor VII (serum prothrombin conversion accelerator) (F7), transcript variant 1, mRNA.	288	Peptidase S1.				anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	Golgi lumen|endoplasmic reticulum lumen|plasma membrane	calcium ion binding|glycoprotein binding|serine-type endopeptidase activity			large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)	TGGCGCAGGTCATCATCCCCA	0.677000														38			20		2.21704e-12	2.7329e-12	1	1	0
SCARA5	286133	broad.mit.edu	37	8	27737199	27737199	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:27737199C>T	uc003xgj.3	-	7	1849	c.1238G>A	c.(1237-1239)cGt>cAt	p.R413H	SCARA5_uc010luz.3_Missense_Mutation_p.R188H	NM_173833	NP_776194	Q6ZMJ2	SCAR5_HUMAN	Homo sapiens scavenger receptor class A, member 5 (putative) (SCARA5), mRNA.	413	SRCR.				cellular iron ion homeostasis|endocytosis|iron ion transmembrane transport|protein homotrimerization	integral to plasma membrane	ferritin receptor activity|scavenger receptor activity	p.R412Q(1)|p.R412W(1)		central_nervous_system(1)|large_intestine(6)|lung(5)|prostate(3)|skin(3)	18		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228)		GGTGCCCCAACGCCGGTCGTG	0.667000														36			27		0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152193229	152193229	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:152193229C>T	uc001ezt.1	-	2	952	c.876G>A	c.(874-876)caG>caA	p.Q292Q		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	292					keratinization		calcium ion binding|protein binding	p.R291S(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGCCCAAAGACTGACGGGAAC	0.602000														73			62		0	0	1	0	0
FBXO46	23403	broad.mit.edu	37	19	46215959	46215959	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:46215959G>A	uc002pcz.3	-	1	918	c.795C>T	c.(793-795)atC>atT	p.I265I	FBXO46_uc002pcy.3_Silent_p.I265I|FBXO46_uc021uvz.1_Silent_p.I265I	NM_001080469	NP_001073938	Q6PJ61	FBX46_HUMAN	Homo sapiens F-box protein 46 (FBXO46), mRNA.	265							protein binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	15		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)		GGCCGTTGGAGATGCGGAAGG	0.731000														18			3		0	0	1	0	0
DISP1	84976	broad.mit.edu	37	1	223176061	223176061	+	Missense_Mutation	SNP	C	T	T	rs114523965	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:223176061C>T	uc001hnu.2	+	9	1648	c.1322C>T	c.(1321-1323)aCg>aTg	p.T441M		NM_032890	NP_116279	Q96F81	DISP1_HUMAN	Homo sapiens dispatched homolog 1 (Drosophila) (DISP1), mRNA.	441					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		ACCCCAAAGACGGCTGACTAT	0.458000														45			25		0	0	1	0	0
RND2	8153	broad.mit.edu	37	17	41180611	41180611	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:41180611C>T	uc002icn.3	+	4	705	c.598C>T	c.(598-600)Cga>Tga	p.R200*		NM_005440	NP_005431	P52198	RND2_HUMAN	Homo sapiens Rho family GTPase 2 (RND2), mRNA.	200					small GTPase mediated signal transduction	acrosomal membrane	GTP binding|GTPase activity			large_intestine(1)|skin(1)	2		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.156)		GGGAATGCAGCGATCCGCTCA	0.622000														16			4		0	0	1	0	0
PIF1	80119	broad.mit.edu	37	15	65114749	65114749	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:65114749G>A	uc002ant.2	-	2	685	c.619C>T	c.(619-621)Ctt>Ttt	p.L207F	PIF1_uc002anr.2_5'Flank|PIF1_uc002ans.2_5'Flank|PIF1_uc010uiq.1_Missense_Mutation_p.L207F|PIF1_uc002anu.3_Missense_Mutation_p.L207F	NM_025049	NP_079325	Q9H611	PIF1_HUMAN	Homo sapiens PIF1 5'-to-3' DNA helicase homolog (S. cerevisiae) (PIF1), mRNA.	207	Hydrolyzes ATP in the presence of both magnesium and single-stranded DNA; weak activity in the presence of RNA or double-stranded DNA; No unwinding activity.				negative regulation of telomerase activity|regulation of telomere maintenance|viral genome replication	nuclear chromosome, telomeric region	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' DNA/RNA helicase activity|magnesium ion binding|single-stranded DNA-dependent ATP-dependent DNA helicase activity|telomeric DNA binding			kidney(1)|lung(1)	2						TCCTCAGAAAGCTGTGGCTTG	0.622000														15			14		0	0	1	0	0
HIST1H1E	3008	broad.mit.edu	37	6	26156764	26156764	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:26156764C>T	uc003ngq.3	+	0	206	c.146C>T	c.(145-147)gCc>gTc	p.A49V	HIST1H2BD_uc003ngr.3_5'Flank|HIST1H2BD_uc003ngs.3_5'Flank	NM_005321	NP_005312	P10412	H14_HUMAN	Homo sapiens histone cluster 1, H1e (HIST1H1E), mRNA.	49	H15.				nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	26						AAAGCTGTTGCCGCCTCCAAG	0.607000														33			8		0	0	1	0	0
PLD1	5337	broad.mit.edu	37	3	171426565	171426565	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:171426565C>T	uc003fhs.3	-	10	1472	c.1125G>A	c.(1123-1125)gaG>gaA	p.E375E	PLD1_uc003fht.3_Silent_p.E375E	NM_002662	NP_002653	Q13393	PLD1_HUMAN	Homo sapiens phospholipase D1, phosphatidylcholine-specific (PLD1), transcript variant 1, mRNA.	375					Ras protein signal transduction|cell communication|chemotaxis	Golgi membrane|endoplasmic reticulum membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	TGATAAAAATCTCTTCATTTG	0.338000														37			18		0	0	1	0	0
GPR116	221395	broad.mit.edu	37	6	46826811	46826811	+	Silent	SNP	C	T	T	rs144073167		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:46826811C>T	uc003oyo.3	-	16	3118	c.2829G>A	c.(2827-2829)aaG>aaA	p.K943K	GPR116_uc011dwj.1_Silent_p.K498K|GPR116_uc011dwk.1_Silent_p.K372K|GPR116_uc003oyp.3_Silent_p.K801K|GPR116_uc003oyq.3_Silent_p.K943K|GPR116_uc010jzi.1_Silent_p.K615K	NM_001098518	NP_056049	Q8IZF2	GP116_HUMAN	Homo sapiens G protein-coupled receptor 116 (GPR116), transcript variant 2, mRNA.	943					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			GGCTATTGTTCTTAAAAGTCA	0.473000														56			36		0	0	1	0	0
MTA2	9219	broad.mit.edu	37	11	62361761	62361761	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:62361761G>T	uc001ntq.2	-	16	2201	c.1811C>A	c.(1810-1812)cCt>cAt	p.P604H	TUT1_uc001nto.2_5'Flank|MTA2_uc010rlx.1_Missense_Mutation_p.P431H	NM_004739	NP_004730	O94776	MTA2_HUMAN	Homo sapiens metastasis associated 1 family, member 2 (MTA2), mRNA.	604					chromatin assembly or disassembly	NuRD complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	26						AAACACCACAGGATTGGGGGC	0.562000														31			12		9.31168e-06	1.03939e-05	1	1	0
CLASP2	23122	broad.mit.edu	37	3	33592888	33592888	+	Splice_Site	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:33592888C>A	uc021wvc.1	-	30	3245	c.3034_splice	c.e30-1	p.V1012_splice	CLASP2_uc003cfs.3_Splice_Site_p.V211_splice|CLASP2_uc021wva.1_Splice_Site_p.V86_splice|CLASP2_uc021wvb.1_Splice_Site_p.V791_splice|CLASP2_uc011axt.1_Splice_Site_p.V604_splice	NM_015097	NP_055912	B2RTR1	B2RTR1_HUMAN	Homo sapiens cytoplasmic linker associated protein 2 (CLASP2), transcript variant 1, mRNA.	1013										breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						CAACCTTCACCTGCAGAGGAA	0.383000														35			6		0.248553	0.249802	1	1	0
PDE9A	5152	broad.mit.edu	37	21	44189185	44189185	+	Nonsense_Mutation	SNP	C	T	T	rs140304122		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:44189185C>T	uc002zbm.3	+	16	1573	c.1510C>T	c.(1510-1512)Cga>Tga	p.R504*	PDE9A_uc002zbn.3_Nonsense_Mutation_p.R377*|PDE9A_uc002zbo.3_Nonsense_Mutation_p.R451*|PDE9A_uc002zbp.3_Nonsense_Mutation_p.R297*|PDE9A_uc002zbq.3_Nonsense_Mutation_p.R402*|PDE9A_uc002zbs.3_Nonsense_Mutation_p.R297*|PDE9A_uc002zbr.3_Nonsense_Mutation_p.R297*|PDE9A_uc002zbt.3_Nonsense_Mutation_p.R376*|PDE9A_uc002zbu.3_Nonsense_Mutation_p.R370*|PDE9A_uc002zbv.3_Nonsense_Mutation_p.R344*|PDE9A_uc002zbw.3_Nonsense_Mutation_p.R287*|PDE9A_uc002zbx.3_Nonsense_Mutation_p.R444*|PDE9A_uc002zby.3_Nonsense_Mutation_p.R287*|PDE9A_uc002zbz.3_Nonsense_Mutation_p.R396*|PDE9A_uc002zca.3_Nonsense_Mutation_p.R463*|PDE9A_uc002zcb.3_Nonsense_Mutation_p.R478*|PDE9A_uc002zcc.3_Nonsense_Mutation_p.R403*|PDE9A_uc002zcd.3_Nonsense_Mutation_p.R418*|PDE9A_uc002zce.3_Nonsense_Mutation_p.R437*|PDE9A_uc002zcf.3_Nonsense_Mutation_p.R297*|PDE9A_uc002zcg.3_Nonsense_Mutation_p.R297*	NM_002606	NP_001001585	O76083	PDE9A_HUMAN	Homo sapiens phosphodiesterase 9A (PDE9A), transcript variant 1, mRNA.	504	Catalytic (By similarity).				platelet activation|signal transduction	Golgi apparatus|cytosol|endoplasmic reticulum|perinuclear region of cytoplasm|ruffle membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding|protein binding			breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27						GTTCATGGACCGAGACAAAGT	0.507000														58			5		0	0	1	0	0
WHSC1L1	54904	broad.mit.edu	37	8	38173513	38173513	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:38173513G>A	uc003xli.3	-	9	2421	c.1903C>T	c.(1903-1905)Cgc>Tgc	p.R635C	WHSC1L1_uc011lbm.2_Missense_Mutation_p.R635C|WHSC1L1_uc010lwe.3_Missense_Mutation_p.R635C	NM_023034	NP_075447	Q9BZ95	NSD3_HUMAN	Homo sapiens Wolf-Hirschhorn syndrome candidate 1-like 1 (WHSC1L1), transcript variant long, mRNA.	635					cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			GTTGAGGCGCGACTCCTTTTC	0.403000			T	NUP98	AML									47			26		0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196642621	196642621	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:196642621C>T	uc002utj.4	-	58	11068	c.10967G>A	c.(10966-10968)cGc>cAc	p.R3656H	DNAH7_uc002uti.4_Missense_Mutation_p.R139H	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	3656					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TAGAATGCTGCGCAGCGTGCG	0.468000														44			21		0	0	1	0	0
GPR88	54112	broad.mit.edu	37	1	101005515	101005515	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:101005515C>T	uc021oqq.1	+	0	993	c.993C>T	c.(991-993)ctC>ctT	p.L331L	GPR88_uc001dth.3_Silent_p.L331L	NM_022049	NP_071332	Q9GZN0	GPR88_HUMAN	Homo sapiens G protein-coupled receptor 88 (GPR88), mRNA.	331						integral to membrane|plasma membrane	G-protein coupled receptor activity			large_intestine(2)|skin(1)	3		all_epithelial(167;1.19e-05)|all_lung(203;0.00159)|Lung NSC(277;0.00171)		Epithelial(280;0.0372)|all cancers(265;0.0558)|COAD - Colon adenocarcinoma(174;0.141)|Colorectal(144;0.156)|Lung(183;0.189)		TGTCCGCGCTCAATCCGCTGC	0.726000														13			8		0	0	1	0	0
USF1	7391	broad.mit.edu	37	1	161011486	161011486	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:161011486G>A	uc001fxi.3	-	5	622	c.427C>T	c.(427-429)Cag>Tag	p.Q143*	F11R_uc010pjw.2_5'Flank|F11R_uc001fxf.4_5'Flank|F11R_uc010pjx.2_5'Flank|F11R_uc009wtw.3_5'Flank|F11R_uc001fxh.4_5'Flank|USF1_uc001fxj.3_Nonsense_Mutation_p.Q84*	NM_007122	NP_996888	P22415	USF1_HUMAN	Homo sapiens upstream transcription factor 1 (USF1), transcript variant 1, mRNA.	143					cellular response to insulin stimulus|glucose homeostasis|late viral mRNA transcription|lipid homeostasis|positive regulation of transcription from RNA polymerase II promoter by glucose|response to UV|response to hypoxia	transcription factor complex	bHLH transcription factor binding|histone deacetylase binding|protein heterodimerization activity|protein homodimerization activity|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|large_intestine(3)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(52;6.73e-18)|Breast(13;0.012)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			TCTGAGCCCTGGGTAGTAACA	0.587000											OREG0013936	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		49			16		0	0	1	0	0
PMS2	5395	broad.mit.edu	37	7	6042121	6042121	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:6042121G>A	uc003spl.3	-	4	587	c.500C>T	c.(499-501)cCt>cTt	p.P167L	PMS2_uc003spj.3_Missense_Mutation_p.P61L|PMS2_uc003spk.3_Missense_Mutation_p.P32L|PMS2_uc011jwl.2_Missense_Mutation_p.P32L|PMS2_uc010ktg.3_5'UTR|PMS2_uc010kte.3_Missense_Mutation_p.P167L|PMS2_uc010ktf.2_Missense_Mutation_p.P167L	NM_000535	NP_000526	P54278	PMS2_HUMAN	Homo sapiens PMS2 postmeiotic segregation increased 2 (S. cerevisiae) (PMS2), transcript variant 1, mRNA.	167					mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		ATGGCGCACAGGTAGTGTGGA	0.423000			"""Mis, N, F"""			"""colorectal, endometrial, ovarian, medulloblastoma, glioma"""		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome					68			63		0	0	1	0	0
SERPINB7	8710	broad.mit.edu	37	18	61459678	61459678	+	Splice_Site	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:61459678G>A	uc002ljl.3	+	3	315	c.219_splice	c.e3+1	p.Q73_splice	SERPINB7_uc002ljm.3_Splice_Site_p.Q73_splice|SERPINB7_uc010xet.2_Intron|SERPINB7_uc010dqg.3_Splice_Site_p.Q73_splice	NM_001040147	NP_003775	O75635	SPB7_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 7 (SERPINB7), transcript variant 2, mRNA.	73					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				TAATAGTCAGGTAAAGACAAT	0.443000														35			23		0	0	1	0	0
RBBP7	5931	broad.mit.edu	37	X	16870701	16870701	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:16870701G>A	uc004cxt.3	-	7	1294	c.936C>T	c.(934-936)ttC>ttT	p.F312F	RBBP7_uc004cxs.2_Silent_p.F356F|RBBP7_uc010nez.3_3'UTR	NM_002893	NP_002884	Q16576	RBBP7_HUMAN	Homo sapiens retinoblastoma binding protein 7 (RBBP7), transcript variant 2, mRNA.	312					CenH3-containing nucleosome assembly at centromere|DNA replication|cell proliferation|cellular heat acclimation|multicellular organismal development|negative regulation of cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex|NuRD complex	protein binding	p.F312F(2)		biliary_tract(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	25	Hepatocellular(33;0.0997)					TATGAGATTCGAAGGTATGGA	0.338000														53			35		0	0	1	0	0
NUP133	55746	broad.mit.edu	37	1	229623232	229623232	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:229623232T>C	uc001htn.3	-	9	1415	c.1323A>G	c.(1321-1323)aaA>aaG	p.K441K		NM_018230	NP_060700	Q8WUM0	NU133_HUMAN	Homo sapiens nucleoporin 133kDa (NUP133), mRNA.	441					carbohydrate metabolic process|glucose transport|mRNA export from nucleus|mitotic prometaphase|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	Nup107-160 complex|condensed chromosome kinetochore|cytosol	nucleocytoplasmic transporter activity|protein binding			NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				TAAAGACAATTTTCTCCTGGG	0.413000														116			13		0	0	1	0	0
ENTPD8	377841	broad.mit.edu	37	9	140331418	140331418	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:140331418G>T	uc004cmw.3	-	4	642	c.458C>A	c.(457-459)tCt>tAt	p.S153Y	ENTPD8_uc004cmx.3_Missense_Mutation_p.S153Y|ENTPD8_uc004cmy.2_3'UTR	NM_001033113	NP_001028285	Q5MY95	ENTP8_HUMAN	Homo sapiens ectonucleoside triphosphate diphosphohydrolase 8 (ENTPD8), transcript variant 1, mRNA.	153						integral to membrane|plasma membrane	ATP binding			biliary_tract(1)|lung(4)|prostate(1)|skin(1)	7	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000224)|Epithelial(140;0.000898)		GTCCACGGGAGACCGGCCCAG	0.642000														54			6		5.18039e-06	5.80246e-06	1	1	0
PIK3CD	5293	broad.mit.edu	37	1	9783240	9783240	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:9783240A>G	uc001aqe.4	+	18	2764	c.2556A>G	c.(2554-2556)gtA>gtG	p.V852V	PIK3CD_uc001aqb.4_Silent_p.V828V|PIK3CD_uc010oaf.2_Silent_p.V827V|PIK3CD_uc021ogb.1_Silent_p.V612V	NM_005026	NP_005017	O00329	PK3CD_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, delta polypeptide (PIK3CD), mRNA.	828	PI3K/PI4K.				phosphatidylinositol-mediated signaling|protein phosphorylation	phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)		TTGAGGTGGTACTCCGTTCAG	0.592000														118			12		0	0	1	0	0
SPEF2	79925	broad.mit.edu	37	5	35667259	35667259	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:35667259C>A	uc003jjo.3	+	8	1364	c.1253C>A	c.(1252-1254)gCt>gAt	p.A418D	SPEF2_uc003jjn.1_Missense_Mutation_p.A418D|SPEF2_uc003jjq.4_Missense_Mutation_p.A418D	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA.	418					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GTGGAAAGAGCTCAAGCTCGT	0.348000														25			19		5.03518e-11	6.129e-11	1	1	0
GABRA1	2554	broad.mit.edu	37	5	161324243	161324243	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:161324243G>A	uc010jiw.3	+	10	1654	c.1186G>A	c.(1186-1188)Gaa>Aaa	p.E396K	GABRA1_uc010jix.3_Missense_Mutation_p.E396K|GABRA1_uc010jiy.3_Missense_Mutation_p.E396K|GABRA1_uc003lyx.4_Missense_Mutation_p.E396K|GABRA1_uc010jiz.3_Missense_Mutation_p.E396K|GABRA1_uc010jja.3_Missense_Mutation_p.E396K|GABRA1_uc010jjb.3_Missense_Mutation_p.E396K	NM_000806	NP_001121120	P14867	GBRA1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 1 (GABRA1), transcript variant 1, mRNA.	396					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	TGCAACCATAGAACCTAAAGA	0.478000														53			41		0	0	1	0	0
POLR1A	25885	broad.mit.edu	37	2	86258711	86258711	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:86258711G>A	uc002sqs.3	-	29	4699	c.4320C>T	c.(4318-4320)aaC>aaT	p.N1440N	POLR1A_uc010ytb.2_Silent_p.N806N	NM_015425	NP_056240	O95602	RPA1_HUMAN	Homo sapiens polymerase (RNA) I polypeptide A, 194kDa (POLR1A), mRNA.	1440					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						cttcatcgtcgttctcctcgc	0.557000														31			25		0	0	1	0	0
FAT1	2195	broad.mit.edu	37	4	187531103	187531103	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:187531103G>A	uc003izf.3	-	14	10108	c.9920C>T	c.(9919-9921)gCc>gTc	p.A3307V		NM_005245	NP_005236	Q14517	FAT1_HUMAN	Homo sapiens FAT tumor suppressor homolog 1 (Drosophila) (FAT1), mRNA.	3307	Cadherin 30.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TCCATCAGTGGCCTCTACTGT	0.438000										HNSCC(5;0.00058)				14			8		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140229842	140229842	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140229842G>A	uc003lhu.2	+	0	2486	c.1762G>A	c.(1762-1764)Ggc>Agc	p.G588S	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lht.1_Missense_Mutation_p.G588S	NM_031857	NP_114063	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 9 (PCDHA9), transcript variant 1, mRNA.	601					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)			GGTGGGCGCCGGCGTAGTGGT	0.677000														55			4		0	0	1	0	0
ME1	4199	broad.mit.edu	37	6	83938602	83938602	+	Nonsense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:83938602C>A	uc003pjy.3	-	9	1340	c.1075G>T	c.(1075-1077)Gaa>Taa	p.E359*	ME1_uc011dzb.2_Nonsense_Mutation_p.E284*|ME1_uc011dzc.2_Nonsense_Mutation_p.E193*	NM_002395	NP_002386	P48163	MAOX_HUMAN	Homo sapiens malic enzyme 1, NADP(+)-dependent, cytosolic (ME1), mRNA.	359					NADP biosynthetic process|carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|response to carbohydrate stimulus|response to hormone stimulus	cytosol	ADP binding|NAD binding|NADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding			NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)		BRCA - Breast invasive adenocarcinoma(397;0.0641)	NADH(DB00157)	TTCATTTCTTCATGTTCATGG	0.408000														89			45		4.01344e-20	5.17398e-20	1	1	0
RNF175	285533	broad.mit.edu	37	4	154649450	154649450	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:154649450G>A	uc003int.3	-	3	683	c.310C>T	c.(310-312)Cgg>Tgg	p.R104W	RNF175_uc003inu.1_Intron	NM_173662	NP_775933	Q8N4F7	RN175_HUMAN	Homo sapiens ring finger protein 175 (RNF175), mRNA.	104						integral to membrane	zinc ion binding			breast(1)|endometrium(1)|large_intestine(5)|lung(1)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	13	all_hematologic(180;0.093)	Renal(120;0.118)				GACAGAAACCGCCACCAGTAT	0.448000														51			37		0	0	1	0	0
FAM40B	57464	broad.mit.edu	37	7	129091500	129091500	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:129091500C>A	uc011koy.2	+	3	361	c.321C>A	c.(319-321)gcC>gcA	p.A107A	FAM40B_uc003vow.3_Silent_p.A107A	NM_020704	NP_065755	Q9ULQ0	FA40B_HUMAN	Homo sapiens family with sequence similarity 40, member B (FAM40B), transcript variant 1, mRNA.	107								p.K106N(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CCCAAAAGGCCTATATAATGG	0.552000														66			20		8.10497e-08	9.41436e-08	1	1	0
B3GALTL	145173	broad.mit.edu	37	13	31797128	31797128	+	Splice_Site	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:31797128G>T	uc010aaz.3	+	3	270	c.160_splice	c.e3+1	p.D54_splice		NM_194318	NP_919299	Q6Y288	B3GLT_HUMAN	Homo sapiens beta 1,3-galactosyltransferase-like (B3GALTL), mRNA.	54					fucose metabolic process	endoplasmic reticulum membrane|integral to membrane	transferase activity, transferring glycosyl groups			breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Lung SC(185;0.0257)		all cancers(112;0.00436)|Epithelial(112;0.0285)|OV - Ovarian serous cystadenocarcinoma(117;0.0512)|GBM - Glioblastoma multiforme(144;0.184)		AAATGACATAGGTAAGTAATG	0.289000														28			9		2.17888e-05	2.40634e-05	1	1	0
ZNF598	90850	broad.mit.edu	37	16	2051688	2051688	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:2051688G>A	uc002cof.1	-	7	924	c.909C>T	c.(907-909)ggC>ggT	p.G303G	TCRBV20S1_uc021tak.1_Intron|ZNF598_uc002coe.1_5'UTR	NM_178167	NP_835461	Q86UK7	ZN598_HUMAN	Homo sapiens zinc finger protein 598 (ZNF598), mRNA.	303						intracellular	zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						CGTAGTCTTCGCCACCAACGA	0.692000														14			9		0	0	1	0	0
ECI1	1632	broad.mit.edu	37	16	2293178	2293178	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:2293178C>T	uc002cpr.3	-	5	646	c.611G>A	c.(610-612)cGt>cAt	p.R204H	ECI1_uc002cps.3_Missense_Mutation_p.R187H	NM_001919	NP_001910	P42126	ECI1_HUMAN	Homo sapiens enoyl-CoA delta isomerase 1 (ECI1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	204				RALQ -> SAPE (in Ref. 5; AAA35485).	fatty acid beta-oxidation	mitochondrial matrix	dodecenoyl-CoA delta-isomerase activity			endometrium(1)|large_intestine(2)|lung(6)	9						CTGCAGGGCACGCTCCGCCGC	0.677000														25			4		0	0	1	0	0
RSAD2	91543	broad.mit.edu	37	2	7018121	7018121	+	Nonsense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:7018121G>T	uc002qyp.1	+	0	326	c.190G>T	c.(190-192)Gag>Tag	p.E64*		NM_080657	NP_542388	Q8WXG1	RSAD2_HUMAN	Homo sapiens radical S-adenosyl methionine domain containing 2 (RSAD2), mRNA.	64					defense response to virus	Golgi apparatus|endoplasmic reticulum membrane	catalytic activity|iron-sulfur cluster binding|metal ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)	20	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			OV - Ovarian serous cystadenocarcinoma(76;0.191)		AGAGGAGGAAGAGGACCCTCC	0.557000														34			13		2.61681e-11	3.19342e-11	1	1	0
ABCA11P	79963	broad.mit.edu	37	4	420902	420902	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:420902A>G	uc003gae.3	-	4	539	c.4T>C	c.(4-6)Tcg>Ccg	p.S2P	ABCA11P_uc003gac.2_Intron|ABCA11P_uc003gad.2_Intron|ABCA11P_uc011buv.2_3'UTR|ABCA11P_uc010ibd.2_Missense_Mutation_p.S2P					Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 11, pseudogene (ABCA11P), non-coding RNA.																		ATCAATAACGACATATCCTAG	0.303000														12			8		0	0	1	0	0
GPR56	9289	broad.mit.edu	37	16	57693391	57693391	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:57693391C>T	uc002emb.2	+	11	1663	c.1371C>T	c.(1369-1371)gaC>gaT	p.D457D	GPR56_uc002elz.1_Silent_p.D287D|GPR56_uc002ema.1_Silent_p.D282D|GPR56_uc002emc.2_Silent_p.D451D|GPR56_uc002emf.2_Silent_p.D451D|GPR56_uc010vhs.1_Silent_p.D457D|GPR56_uc002emd.2_Silent_p.D451D|GPR56_uc002eme.2_Silent_p.D451D|GPR56_uc010vht.1_Silent_p.D456D|GPR56_uc002emg.3_Silent_p.D451D|GPR56_uc010vhu.1_Silent_p.D276D	NM_005682	NP_005673	Q9Y653	GPR56_HUMAN	Homo sapiens G protein-coupled receptor 56 (GPR56), transcript variant 1, mRNA.	457					brain development|cell adhesion|cell-cell signaling|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity			kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	15						TCCTGCTGGACACGAGCTTCC	0.637000														37			11		0	0	1	0	0
LINGO1	84894	broad.mit.edu	37	15	77906905	77906905	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:77906905G>A	uc002bct.1	-	1	1396	c.1344C>T	c.(1342-1344)gcC>gcT	p.A448A	LINGO1_uc002bcu.1_Silent_p.A442A	NM_032808	NP_116197	Q96FE5	LIGO1_HUMAN	Homo sapiens leucine rich repeat and Ig domain containing 1 (LINGO1), mRNA.	448	Ig-like C2-type.				negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						GGTCGCCATCGGCCCGGCACA	0.672000														5			3		0	0	1	0	0
C12orf50	160419	broad.mit.edu	37	12	88379745	88379745	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:88379745G>A	uc001tam.1	-	10	1176	c.1008C>T	c.(1006-1008)caC>caT	p.H336H	C12orf50_uc001tan.3_Silent_p.H351H	NM_152589	NP_689802	Q8NA57	CL050_HUMAN	Homo sapiens chromosome 12 open reading frame 50 (C12orf50), mRNA.	336										NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						CTCTTTGAACGTGGATATAGG	0.473000														128			9		0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155219766	155219766	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:155219766G>T	uc003inw.2	-	17	4335	c.4335C>A	c.(4333-4335)acC>acA	p.T1445T		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.	1445	Cadherin 12.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GAATGACAAGGGTAAAATTGC	0.438000														53			37		2.51541e-25	3.2909e-25	1	1	0
STRN4	29888	broad.mit.edu	37	19	47228077	47228077	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:47228077G>T	uc002pfm.3	-	11	1635	c.1602C>A	c.(1600-1602)ccC>ccA	p.P534P	STRN4_uc002pfl.3_Silent_p.P527P|STRN4_uc010xyf.2_Non-coding_Transcript	NM_001039877	NP_001034966	Q9NRL3	STRN4_HUMAN	Homo sapiens striatin, calmodulin binding protein 4 (STRN4), transcript variant 2, mRNA.	527						cytoplasm|membrane	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)		AGCCATCATAGGGATCCATGC	0.597000														15			12		0.010729	0.011087	1	1	0
OGDHL	55753	broad.mit.edu	37	10	50966452	50966452	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:50966452G>T	uc009xog.3	-	0	302	c.268C>A	c.(268-270)Ccc>Acc	p.P90T	OGDHL_uc001jie.3_Missense_Mutation_p.P63T|OGDHL_uc010qgt.2_Missense_Mutation_p.P63T|OGDHL_uc010qgu.2_Intron|OGDHL_uc009xoh.2_Intron	NM_001143997	NP_001137469	Q9ULD0	OGDHL_HUMAN	Homo sapiens oxoglutarate dehydrogenase-like (OGDHL), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	63					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	p.R89R(1)		central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						ACACTCTGGGGGTTTTCCAAC	0.662000														103			9		4.68919e-08	5.46558e-08	1	1	0
ARL6IP5	10550	broad.mit.edu	37	3	69151036	69151036	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:69151036C>T	uc003dnr.3	+	1	332	c.223C>T	c.(223-225)Ctg>Ttg	p.L75L		NM_006407	NP_006398	O75915	PRAF3_HUMAN	Homo sapiens ADP-ribosylation-like factor 6 interacting protein 5 (ARL6IP5), mRNA.	75					L-glutamate transport	endoplasmic reticulum membrane|integral to membrane				biliary_tract(1)|endometrium(1)|large_intestine(2)|ovary(1)|prostate(1)|urinary_tract(1)	7		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.78e-05)|Epithelial(33;0.000818)|LUSC - Lung squamous cell carcinoma(21;0.0118)|Lung(16;0.0189)|KIRC - Kidney renal clear cell carcinoma(39;0.203)|Kidney(39;0.238)		CGTGGTGGTGCTGGTGTTCAC	0.502000														22			12		0	0	1	0	0
SYNJ2	8871	broad.mit.edu	37	6	158464356	158464356	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:158464356C>T	uc003qqx.2	+	4	826	c.720C>T	c.(718-720)taC>taT	p.Y240Y	SYNJ2_uc011efm.2_Non-coding_Transcript|SYNJ2_uc003qqw.2_Silent_p.Y240Y|SYNJ2_uc003qqy.2_Silent_p.Y3Y|SYNJ2_uc011efn.1_Silent_p.Y189Y|SYNJ2_uc010kjo.1_Silent_p.Y189Y	NM_003898	NP_001171559	O15056	SYNJ2_HUMAN	Homo sapiens synaptojanin 2 (SYNJ2), transcript variant 1, mRNA.	240	SAC.						RNA binding|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		AGATGATTTACATGGACGATG	0.502000														29			4		0	0	1	0	0
MSTN	2660	broad.mit.edu	37	2	190924926	190924926	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:190924926C>T	uc002urp.3	-	1	742	c.609G>A	c.(607-609)tgG>tgA	p.W203*		NM_005259	NP_005250	O14793	GDF8_HUMAN	Homo sapiens myostatin (MSTN), mRNA.	203					muscle organ development|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)	12			OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395)			CAATGCTCTGCCAAATACCAG	0.408000														92			39		0	0	1	0	0
ACAA2	10449	broad.mit.edu	37	18	47329192	47329192	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:47329192G>T	uc002ldw.4	-	1	445	c.48C>A	c.(46-48)ccC>ccA	p.P16P		NM_006111	NP_006102	P42765	THIM_HUMAN	Homo sapiens acetyl-CoA acyltransferase 2 (ACAA2), nuclear gene encoding mitochondrial protein, mRNA.	16					anti-apoptosis|cholesterol biosynthetic process		acetyl-CoA C-acyltransferase activity|protein binding	p.P16R(1)		large_intestine(2)|lung(7)|ovary(1)	10						AAGCTCCAAAGGGCGTTCGCT	0.448000														68			10		1.58986e-06	1.80238e-06	1	1	0
ISLR2	57611	broad.mit.edu	37	15	74425567	74425567	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:74425567C>T	uc002axd.3	+	3	1241	c.472C>T	c.(472-474)Cgg>Tgg	p.R158W	ISLR2_uc002axe.3_Missense_Mutation_p.R158W|ISLR2_uc010bjg.3_Missense_Mutation_p.R158W|ISLR2_uc010bjf.3_Missense_Mutation_p.R158W|ISLR2_uc021sqe.1_Missense_Mutation_p.R158W	NM_001130136	NP_065902	Q6UXK2	ISLR2_HUMAN	Homo sapiens immunoglobulin superfamily containing leucine-rich repeat 2 (ISLR2), transcript variant 1, mRNA.	158					positive regulation of axon extension	cell surface|integral to membrane|plasma membrane				breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						CAACAACAACCGGCTGCGTAC	0.632000														40			30		0	0	1	0	0
ATP4A	495	broad.mit.edu	37	19	36053484	36053484	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:36053484C>T	uc002oal.1	-	3	302	c.273G>A	c.(271-273)ctG>ctA	p.L91L		NM_000704	NP_000695	P20648	ATP4A_HUMAN	Homo sapiens ATPase, H+/K+ exchanging, alpha polypeptide (ATP4A), mRNA.	91					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	GTGGTGGCCGCAGTGCGTTGG	0.706000														5			7		0	0	1	0	0
GTF3C5	9328	broad.mit.edu	37	9	135929296	135929296	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:135929296C>T	uc004ccj.4	+	5	1292	c.955C>T	c.(955-957)Ctc>Ttc	p.L319F	GTF3C5_uc010mzz.2_Missense_Mutation_p.L194F|GTF3C5_uc004cci.4_Missense_Mutation_p.L319F	NM_001122823	NP_001116295	Q9Y5Q8	TF3C5_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 5, 63kDa (GTF3C5), transcript variant 1, mRNA.	319						transcription factor TFIIIC complex	DNA binding|protein binding			endometrium(5)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;4.01e-06)|Epithelial(140;4e-05)		TTATCAAGTCCTCGATTTCCG	0.458000														23			16		0	0	1	0	0
VSIG2	23584	broad.mit.edu	37	11	124621457	124621457	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:124621457C>A	uc001qas.3	-	1	157	c.81G>T	c.(79-81)aaG>aaT	p.K27N	VSIG2_uc001qat.3_Missense_Mutation_p.K27N	NM_014312	NP_055127	Q96IQ7	VSIG2_HUMAN	Homo sapiens V-set and immunoglobulin domain containing 2 (VSIG2), mRNA.	27	Ig-like V-type.					integral to plasma membrane|membrane fraction				central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(5)	19	all_hematologic(175;0.215)	Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0215)		CTGTGGGTACCTTCACCTCCA	0.657000														31			18		2.94398e-08	3.4452e-08	1	1	0
APOL5	80831	broad.mit.edu	37	22	36122598	36122598	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:36122598G>A	uc003aof.3	+	2	483	c.483G>A	c.(481-483)gtG>gtA	p.V161V		NM_030642	NP_085145	Q9BWW9	APOL5_HUMAN	Homo sapiens apolipoprotein L, 5 (APOL5), mRNA.	161					lipid metabolic process|lipid transport|lipoprotein metabolic process	cytoplasm|extracellular region	high-density lipoprotein particle binding|lipid binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1)	19						TAGCACCTGTGACAGCAGGAG	0.542000														57			29		0	0	1	0	0
GPNMB	10457	broad.mit.edu	37	7	23306199	23306199	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:23306199G>T	uc003swc.3	+	6	1279	c.1118G>T	c.(1117-1119)aGa>aTa	p.R373I	GPNMB_uc003swb.3_Missense_Mutation_p.R361I|GPNMB_uc011jyy.2_Missense_Mutation_p.R315I|GPNMB_uc011jyz.2_Missense_Mutation_p.R262I	NM_001005340	NP_001005340	Q14956	GPNMB_HUMAN	Homo sapiens glycoprotein (transmembrane) nmb (GPNMB), transcript variant 1, mRNA.	373					negative regulation of cell proliferation	melanosome				breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2)	41			GBM - Glioblastoma multiforme(13;0.154)			CAGATTAACAGATATGGCCAC	0.478000														51			5		1.23904e-05	1.3743e-05	1	1	0
ATP7A	538	broad.mit.edu	37	X	77244936	77244936	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:77244936A>G	uc004ecx.4	+	3	978	c.818A>G	c.(817-819)tAt>tGt	p.Y273C	ATP7A_uc004ecw.2_Missense_Mutation_p.Y273C	NM_000052	NP_000043	Q04656	ATP7A_HUMAN	Homo sapiens ATPase, Cu++ transporting, alpha polypeptide (ATP7A), mRNA.	273					ATP biosynthetic process|T-helper cell differentiation|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						AGTCCATCATATACCAATGAT	0.393000														98			78		0	0	1	0	0
PRDM2	7799	broad.mit.edu	37	1	14105542	14105542	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:14105542C>T	uc001avi.3	+	7	2108	c.1252C>T	c.(1252-1254)Cgg>Tgg	p.R418W	PRDM2_uc001avg.3_Intron|PRDM2_uc001avh.3_Missense_Mutation_p.R418W|PRDM2_uc021ogk.1_Missense_Mutation_p.R181W|PRDM2_uc001avk.3_Missense_Mutation_p.R217W|PRDM2_uc009voe.3_Intron|PRDM2_uc009vof.3_Intron	NM_012231	NP_036363	Q13029	PRDM2_HUMAN	Homo sapiens PR domain containing 2, with ZNF domain (PRDM2), transcript variant 1, mRNA.	418						Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		AGGGTTAAAGCGGAAACCCAG	0.512000														25			14		0	0	1	0	0
GRM2	2912	broad.mit.edu	37	3	51749164	51749164	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:51749164C>A	uc010hlv.3	+	3	1614	c.1375C>A	c.(1375-1377)Ctg>Atg	p.L459M	GRM2_uc003dbo.4_5'UTR|GRM2_uc010hlu.3_Non-coding_Transcript	NM_000839	NP_000830	Q14416	GRM2_HUMAN	Homo sapiens glutamate receptor, metabotropic 2 (GRM2), transcript variant 1, mRNA.	459					synaptic transmission	integral to plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acamprosate(DB00659)|Nicotine(DB00184)	CTTCACCTATCTGCGTGCAGG	0.597000														21			14		2.35188e-11	2.87337e-11	1	1	0
TNFRSF17	608	broad.mit.edu	37	16	12061576	12061576	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:12061576T>C	uc002dbv.3	+	2	645	c.427T>C	c.(427-429)Tgc>Cgc	p.C143R	TNFRSF17_uc010buy.3_3'UTR|TNFRSF17_uc010buz.3_Missense_Mutation_p.C94R	NM_001192	NP_001183	Q02223	TNR17_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 17 (TNFRSF17), mRNA.	143					cell proliferation|multicellular organismal development	endomembrane system|integral to membrane|plasma membrane				large_intestine(3)|lung(3)	6						CTCTGACCATTGCTTTCCACT	0.502000			T	IL2	intestinal T-cell lymphoma									53			15		0	0	1	0	0
ORC4	5000	broad.mit.edu	37	2	148705697	148705697	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:148705697T>G	uc002twj.3	-	8	855	c.685A>C	c.(685-687)Ata>Cta	p.I229L	ORC4_uc021vqr.1_Missense_Mutation_p.I229L|ORC4_uc002twi.3_Missense_Mutation_p.I229L|ORC4_uc010zbo.2_Missense_Mutation_p.I155L|ORC4_uc010zbq.2_Missense_Mutation_p.I145L|ORC4_uc010zbp.2_Missense_Mutation_p.I12L|ORC4_uc002twk.3_Missense_Mutation_p.I229L|ORC4_uc010zbr.2_Missense_Mutation_p.I229L	NM_002552	NP_001177810	O43929	ORC4_HUMAN	Homo sapiens origin recognition complex, subunit 4 (ORC4), transcript variant 2, mRNA.	229					DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint	nuclear origin of replication recognition complex|nucleoplasm	ATP binding|DNA replication origin binding|nucleoside-triphosphatase activity|protein binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	14						TCTTTAAATATTTTAACATAC	0.333000														87			7		0	0	1	0	0
NOC3L	64318	broad.mit.edu	37	10	96112807	96112807	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:96112807T>G	uc001kjq.1	-	6	792	c.704A>C	c.(703-705)aAa>aCa	p.K235T	NOC3L_uc009xuk.1_Missense_Mutation_p.K20T	NM_022451	NP_071896	Q8WTT2	NOC3L_HUMAN	Homo sapiens nucleolar complex associated 3 homolog (S. cerevisiae) (NOC3L), mRNA.	235						nuclear speck|nucleolus	binding	p.K235fs*2(1)		endometrium(3)|large_intestine(17)|lung(5)|ovary(1)|skin(2)|stomach(1)	29		Colorectal(252;0.0897)				TTCTTTCAATTTTTTAATCTG	0.353000														98			10		0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124285903	124285903	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:124285903G>A	uc001uft.4	+	14	2209	c.2184G>A	c.(2182-2184)gtG>gtA	p.V728V	DNAH10_uc010tav.1_Silent_p.V270V|DNAH10_uc010taw.1_Silent_p.V213V	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	728	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CGGAGTCTGTGCTTCTCAAAG	0.443000														144			12		0	0	1	0	0
TANC1	85461	broad.mit.edu	37	2	160055501	160055501	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:160055501C>T	uc002uag.3	+	18	3455	c.3181C>T	c.(3181-3183)Ctg>Ttg	p.L1061L	TANC1_uc010zcm.2_Silent_p.L1053L|TANC1_uc010fom.1_Silent_p.L867L|TANC1_uc010fon.3_5'UTR	NM_033394	NP_203752	Q9C0D5	TANC1_HUMAN	Homo sapiens tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1 (TANC1), transcript variant 1, mRNA.	1061						cell junction|postsynaptic density|postsynaptic membrane	binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						CCAGTGCTTGCTGGGGATGGA	0.463000														29			11		0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64497763	64497763	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:64497763T>C	uc001xgl.3	+	44	7139	c.6909T>C	c.(6907-6909)gaT>gaC	p.D2303D	SYNE2_uc001xgm.3_Silent_p.D2303D|SYNE2_uc021ruh.1_Silent_p.D2303D	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	2303					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GTTTACAAGATGGCACATTAA	0.328000														62			15		0	0	1	0	0
ALK	238	broad.mit.edu	37	2	29754876	29754876	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:29754876C>T	uc002rmy.3	-	3	2011	c.1059G>A	c.(1057-1059)agG>agA	p.R353R		NM_004304	NP_004295	Q9UM73	ALK_HUMAN	Homo sapiens anaplastic lymphoma receptor tyrosine kinase (ALK), mRNA.	353	MAM 1.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	GCTGCAGGTGCCTGTGCACCG	0.592000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome					39			14		0	0	1	0	0
ARHGAP4	393	broad.mit.edu	37	X	153176003	153176003	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153176003G>A	uc004fjk.2	-	15	1937	c.1879C>T	c.(1879-1881)Ccg>Tcg	p.P627S	ARHGAP4_uc011mzf.2_Missense_Mutation_p.P604S|ARHGAP4_uc004fjl.2_Missense_Mutation_p.P667S|ARHGAP4_uc010nup.2_Intron	NM_001666	NP_001657	P98171	RHG04_HUMAN	Homo sapiens Rho GTPase activating protein 4 (ARHGAP4), transcript variant 2, mRNA.	627	Rho-GAP.				Rho protein signal transduction|apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway	cytosol|focal adhesion|nucleus	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ACCAGCACCGGCGCGGGCAGC	0.706000														10			7		0	0	1	0	0
SOX5	6660	broad.mit.edu	37	12	23687228	23687228	+	Silent	SNP	G	A	A	rs144757257		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:23687228G>A	uc001rfw.3	-	14	2319	c.2217C>T	c.(2215-2217)taC>taT	p.Y739Y	SOX5_uc001rfx.3_Silent_p.Y726Y|SOX5_uc001rfy.3_Silent_p.Y618Y|SOX5_uc001rfv.3_Silent_p.Y353Y|SOX5_uc010siv.2_Silent_p.Y726Y	NM_006940	NP_694534	P35711	SOX5_HUMAN	Homo sapiens SRY (sex determining region Y)-box 5 (SOX5), transcript variant 1, mRNA.	739					transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						CTTCCTCGTCGTACTCATCAT	0.443000														69			45		0	0	1	0	0
MYH7	4625	broad.mit.edu	37	14	23893260	23893260	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:23893260C>T	uc001wjx.3	-	22	2884	c.2778G>A	c.(2776-2778)ctG>ctA	p.L926L		NM_000257	NP_000248	P12883	MYH7_HUMAN	Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA.	926					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CCTCATCCTCCAGCCTCTCGT	0.517000														52			36		0	0	1	0	0
CDK1	983	broad.mit.edu	37	10	62545441	62545441	+	Nonsense_Mutation	SNP	C	T	T	rs11540347		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:62545441C>T	uc001jld.3	+	3	356	c.214C>T	c.(214-216)Cag>Tag	p.Q72*	CDK1_uc010qii.2_Nonsense_Mutation_p.Q72*|CDK1_uc021prh.1_Nonsense_Mutation_p.Q72*|CDK1_uc001jlg.3_Nonsense_Mutation_p.Q72*|CDK1_uc001jle.3_Non-coding_Transcript	NM_001786	NP_001777	P06493	CDK1_HUMAN	Homo sapiens cyclin-dependent kinase 1 (CDK1), transcript variant 1, mRNA.	72	Protein kinase.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Ras protein signal transduction|Toll signaling pathway|activation of MAPK activity|activation of MAPKK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|axon guidance|cell division|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|mitosis|nerve growth factor receptor signaling pathway|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein localization to kinetochore|regulation of transcription involved in G1/S phase of mitotic cell cycle|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|midbody|nucleoplasm|spindle microtubule	ATP binding|RNA polymerase II carboxy-terminal domain kinase activity|cyclin-dependent protein kinase activity			ovary(1)	1						TGTGCTTATGCAGGATTCCAG	0.368000														203			24		0	0	1	0	0
FOXC1	2296	broad.mit.edu	37	6	1610942	1610942	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:1610942A>G	uc003mtp.3	+	0	262	c.262A>G	c.(262-264)Acc>Gcc	p.T88A		NM_001453	NP_001444	Q12948	FOXC1_HUMAN	Homo sapiens forkhead box C1 (FOXC1), mRNA.	88					Notch signaling pathway|anti-apoptosis|artery morphogenesis|blood vessel remodeling|brain development|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|germ cell migration|glycosaminoglycan metabolic process|lacrimal gland development|lymphangiogenesis|metanephros development|negative regulation of mitotic cell cycle|neural crest cell fate commitment|odontogenesis of dentine-containing tooth|ossification|ovarian follicle development|paraxial mesodermal cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	nuclear heterochromatin|transcription factor complex	DNA bending activity|chromatin DNA binding|double-stranded DNA binding|promoter binding|sequence-specific DNA 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			large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	8	Ovarian(93;0.0733)	all_cancers(2;4.45e-07)|all_epithelial(2;4.33e-05)|all_lung(73;0.0713)|all_hematologic(90;0.0895)		Epithelial(2;0.0904)|OV - Ovarian serous cystadenocarcinoma(45;0.095)|all cancers(2;0.168)		CGCGCTCATCACCATGGCCAT	0.632000														42			16		0	0	1	0	0
C2CD3	26005	broad.mit.edu	37	11	73809210	73809210	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:73809210G>A	uc001ouu.2	-	15	3050	c.2823C>T	c.(2821-2823)ggC>ggT	p.G941G		NM_015531	NP_056346	Q4AC94	C2CD3_HUMAN	Homo sapiens C2 calcium-dependent domain containing 3 (C2CD3), mRNA.	941						centrosome				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					CATTTTGGTGGCCTGAAAACA	0.458000														41			39		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141298623	141298623	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:141298623A>G	uc002tvj.1	-	44	8404	c.7432T>C	c.(7432-7434)Ttg>Ctg	p.L2478L		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	2478					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.L2478L(2)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AAAAGGCACAAGTCATGGCAG	0.403000										TSP Lung(27;0.18)				75			9		0	0	1	0	0
AQR	9716	broad.mit.edu	37	15	35210528	35210528	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:35210528G>A	uc001ziv.3	-	14	1454	c.1273C>T	c.(1273-1275)Cct>Tct	p.P425S		NM_014691	NP_055506	O60306	AQR_HUMAN	Homo sapiens aquarius homolog (mouse) (AQR), mRNA.	425						catalytic step 2 spliceosome	RNA binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		GGATACAAAGGCATCTGGTTC	0.368000														36			19		0	0	1	0	0
FBXO10	26267	broad.mit.edu	37	9	37518375	37518375	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:37518375G>A	uc004aac.3	-	8	2389	c.2309C>T	c.(2308-2310)gCg>gTg	p.A770V	FBXO10_uc004aab.3_Missense_Mutation_p.A754V|FBXO10_uc004aad.3_Missense_Mutation_p.A304V	NM_012166	NP_036298	Q9UK96	FBX10_HUMAN	Homo sapiens F-box protein 10 (FBXO10), mRNA.	754						ubiquitin ligase complex	ubiquitin-protein ligase activity			breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34				GBM - Glioblastoma multiforme(29;0.0107)		GTCCCCATTCGCGTGGATCAC	0.587000														20			12		0	0	1	0	0
KIF16B	55614	broad.mit.edu	37	20	16486802	16486802	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:16486802C>T	uc002wpg.2	-	7	892	c.733G>A	c.(733-735)Gtc>Atc	p.V245I	KIF16B_uc010gch.2_Missense_Mutation_p.V245I|KIF16B_uc010gci.2_Missense_Mutation_p.V245I|KIF16B_uc010gcj.2_Missense_Mutation_p.V245I	NM_024704	NP_078980	Q96L93	KI16B_HUMAN	Homo sapiens kinesin family member 16B (KIF16B), transcript variant 2, mRNA.	245	Kinesin-motor.				Golgi to endosome transport|cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						ATCTTACTGACGGTTTCACAT	0.438000														109			44		0	0	1	0	0
HGS	9146	broad.mit.edu	37	17	79654062	79654062	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:79654062C>T	uc002kbg.3	+	3	363	c.228C>T	c.(226-228)ggC>ggT	p.G76G	HGS_uc010wus.2_Silent_p.G76G	NM_004712	NP_004703	O14964	HGS_HUMAN	Homo sapiens hepatocyte growth factor-regulated tyrosine kinase substrate (HGS), mRNA.	76	VHS.				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of JAK-STAT cascade|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|regulation of protein catabolic process	cytosol|early endosome membrane|multivesicular body membrane	metal ion binding|protein domain specific binding			endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)			AGAACTGTGGCCAGACAGTTC	0.622000														10			6		0	0	1	0	0
STAB1	23166	broad.mit.edu	37	3	52547929	52547929	+	Missense_Mutation	SNP	G	A	A	rs2286786	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52547929G>A	uc003dej.3	+	31	3453	c.3379G>A	c.(3379-3381)Ggt>Agt	p.G1127S		NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	Homo sapiens stabilin 1 (STAB1), mRNA.	1127			G -> R (in dbSNP:rs2286786).		cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GGATGTGCCCGGTGGGCAGGG	0.622000														162			21		0	0	1	0	0
ENOSF1	55556	broad.mit.edu	37	18	691268	691268	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:691268C>T	uc010dkf.3	-	5	506	c.495G>A	c.(493-495)agG>agA	p.R165R	ENOSF1_uc002kku.4_Silent_p.R144R|ENOSF1_uc002kkt.4_Silent_p.R62R|ENOSF1_uc010dke.3_Non-coding_Transcript|ENOSF1_uc002kkw.4_Intron|ENOSF1_uc010wyt.1_Non-coding_Transcript	NM_202758	NP_974487	Q7L5Y1	ENOF1_HUMAN	Homo sapiens enolase superfamily member 1 (ENOSF1), transcript variant 3, mRNA.	144					cellular amino acid catabolic process	mitochondrion	isomerase activity|metal ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	10						ATACCAGCATCCTGGGATCCT	0.428000														31			11		0	0	1	0	0
OR2G2	81470	broad.mit.edu	37	1	247751882	247751882	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:247751882G>A	uc010pyy.2	+	0	221	c.221G>A	c.(220-222)cGc>cAc	p.R74H		NM_001001915	NP_001001915	Q8NGZ5	OR2G2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 2 (OR2G2), mRNA.	74					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R74H(2)|p.Y73*(1)		endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TTCCTGTACCGCTGCTTCACC	0.473000														105			48		0	0	1	0	0
SPEG	10290	broad.mit.edu	37	2	220309641	220309641	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:220309641G>A	uc010fwg.3	+	2	573	c.573G>A	c.(571-573)ggG>ggA	p.G191G	SPEG_uc002vlm.3_Non-coding_Transcript|SPEG_uc010fwh.2_5'UTR|SPEG_uc002vln.1_5'UTR	NM_005876	NP_005867	Q15772	SPEG_HUMAN	Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA.	191					muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		GGGGCAGCGGGCAGACGGTCC	0.716000														28			18		0	0	1	0	0
CYP51A1	1595	broad.mit.edu	37	7	91758259	91758259	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:91758259C>A	uc003ulm.4	-	2	565	c.403G>T	c.(403-405)Gat>Tat	p.D135Y	CYP51A1_uc011khn.2_Missense_Mutation_p.D30Y|CYP51A1_uc003uln.4_Missense_Mutation_p.D72Y	NM_000786	NP_001139624	Q16850	CP51A_HUMAN	Homo sapiens cytochrome P450, family 51, subfamily A, polypeptide 1 (CYP51A1), transcript variant 1, mRNA.	129					cholesterol biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|sterol 14-demethylase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)	10	all_cancers(62;2.16e-09)|all_epithelial(64;3.86e-08)|Breast(17;0.00206)|all_lung(186;0.169)|all_hematologic(106;0.215)|Lung NSC(181;0.227)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		Fluconazole(DB00196)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Miconazole(DB01110)|Terconazole(DB00251)	CTGTAGACATCTTCTGCATTC	0.413000														188			69		3.12118e-38	4.14462e-38	1	1	0
RAI2	10742	broad.mit.edu	37	X	17819072	17819072	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:17819072G>A	uc022btm.1	-	0	1059	c.1059C>T	c.(1057-1059)tcC>tcT	p.S353S	RAI2_uc004cyf.3_Silent_p.S353S|RAI2_uc004cyg.3_Silent_p.S353S|RAI2_uc011miy.2_Silent_p.S303S|RAI2_uc022btl.1_Silent_p.S353S|RAI2_uc004cyh.4_Silent_p.S353S|RAI2_uc010nfa.3_Silent_p.S353S	NM_021785	NP_068557	Q9Y5P3	RAI2_HUMAN	Homo sapiens retinoic acid induced 2 (RAI2), transcript variant 2, mRNA.	353					embryo development					breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	22	Hepatocellular(33;0.183)					GGGGAGGCTCGGATTTCCGGT	0.547000														46			27		0	0	1	0	0
DLC1	10395	broad.mit.edu	37	8	13356887	13356887	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:13356887C>T	uc003wwm.2	-	1	1138	c.694G>A	c.(694-696)Gct>Act	p.A232T	DLC1_uc003wwn.3_Missense_Mutation_p.A232T|DLC1_uc011kxy.2_Missense_Mutation_p.A232T	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	Homo sapiens deleted in liver cancer 1 (DLC1), transcript variant 1, mRNA.	232					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of Rho protein signal transduction|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						CGTTGCTGAGCAATTACAGCA	0.393000														207			14		0	0	1	0	0
SLC16A5	9121	broad.mit.edu	37	17	73096509	73096509	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:73096509G>A	uc002jmr.3	+	4	1123	c.751G>A	c.(751-753)Ggc>Agc	p.G251S	SLC16A5_uc002jmt.3_Missense_Mutation_p.G251S|SLC16A5_uc002jmu.3_Missense_Mutation_p.G251S|SLC16A5_uc010wrt.2_Missense_Mutation_p.G291S	NM_004695	NP_004686	O15375	MOT6_HUMAN	Homo sapiens solute carrier family 16, member 5 (monocarboxylic acid transporter 6) (SLC16A5), mRNA.	251					organic anion transport	integral to plasma membrane|membrane fraction	secondary active monocarboxylate transmembrane transporter activity|symporter activity			central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	all_lung(278;0.226)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		Pyruvic acid(DB00119)	GTCCGTCCTGGGCTTCCCACT	0.607000														153			108		0	0	1	0	0
SLA2	84174	broad.mit.edu	37	20	35262913	35262913	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:35262913C>T	uc002xfv.3	-	2	594	c.171G>A	c.(169-171)gaG>gaA	p.E57E	SLA2_uc002xfu.3_Silent_p.E57E	NM_032214	NP_115590	Q9H6Q3	SLAP2_HUMAN	Homo sapiens Src-like-adaptor 2 (SLA2), transcript variant 1, mRNA.	57	SH3.				B cell mediated immunity|T cell activation|antigen receptor-mediated signaling pathway|intracellular receptor mediated signaling pathway|negative regulation of B cell activation|negative regulation of calcium-mediated signaling|negative regulation of transcription from RNA polymerase II promoter	cytoplasmic membrane-bounded vesicle|endosome membrane|plasma membrane	SH3/SH2 adaptor activity|protein N-terminus binding			endometrium(1)|lung(2)|skin(2)	5	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)				TGGTCAATGGCTCCCCGAGTC	0.582000														19			7		0	0	1	0	0
NUAK1	9891	broad.mit.edu	37	12	106461707	106461707	+	Missense_Mutation	SNP	G	T	T	rs56311486	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:106461707G>T	uc001tlj.1	-	6	2239	c.859C>A	c.(859-861)Ctg>Atg	p.L287M		NM_014840	NP_055655	O60285	NUAK1_HUMAN	Homo sapiens NUAK family, SNF1-like kinase, 1 (NUAK1), mRNA.	287	Protein kinase.						ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						TTCACCATCAGCATCCACCGT	0.547000														26			16		2.23348e-06	2.52156e-06	1	1	0
MTERFD3	80298	broad.mit.edu	37	12	107372068	107372068	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:107372068G>T	uc001tme.1	-	1	2244	c.425C>A	c.(424-426)aCt>aAt	p.T142N	MTERFD3_uc001tmf.1_Missense_Mutation_p.T142N|MTERFD3_uc001tmg.1_Missense_Mutation_p.T142N|MTERFD3_uc021rdh.1_Missense_Mutation_p.T142N|MTERFD3_uc001tmh.1_Missense_Mutation_p.T142N	NM_025198	NP_079474	Q49AM1	MTER3_HUMAN	Homo sapiens MTERF domain containing 3 (MTERFD3), transcript variant 2, mRNA.	142					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial nucleoid	transcription regulatory region DNA binding			breast(1)|kidney(1)|large_intestine(2)|lung(3)	7						GTCTTTAATAGTAAAGAAAGA	0.393000														57			29		2.65835e-16	3.3677e-16	1	1	0
VN1R5	317705	broad.mit.edu	37	1	247419660	247419660	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:247419660T>C	uc010pyu.2	+	1	284	c.284T>C	c.(283-285)tTc>tCc	p.F95S		NM_173858	NP_776257	Q7Z5H4	VN1R5_HUMAN	Homo sapiens vomeronasal 1 receptor 5 (gene/pseudogene) (VN1R5), mRNA.	96					response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity					all_cancers(71;5.7e-05)|all_epithelial(71;1.03e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)	all_cancers(173;0.0314)	OV - Ovarian serous cystadenocarcinoma(106;0.00854)			CTGCTGCTCTTCACCCAGGCA	0.403000														89			33		0	0	1	0	0
RIF1	55183	broad.mit.edu	37	2	152293769	152293769	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:152293769C>T	uc002txm.3	+	12	1548	c.1387C>T	c.(1387-1389)Ccg>Tcg	p.P463S	RIF1_uc010fnv.2_Missense_Mutation_p.P427S|RIF1_uc002txn.3_Missense_Mutation_p.P463S|RIF1_uc002txl.3_Missense_Mutation_p.P463S|RIF1_uc002txo.3_Missense_Mutation_p.P463S|RIF1_uc010zby.1_Non-coding_Transcript	NM_018151	NP_060621	Q5UIP0	RIF1_HUMAN	Homo sapiens RAP1 interacting factor homolog (yeast) (RIF1), transcript variant 1, mRNA.	463					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		ATTGGAACATCCGTTAATCAG	0.338000														69			5		0	0	1	0	0
PKD1L1	168507	broad.mit.edu	37	7	47894786	47894786	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:47894786G>A	uc003tny.2	-	28	4702	c.4668C>T	c.(4666-4668)ccC>ccT	p.P1556P		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA.	1556	REJ.				cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						CGACCATCACGGGTTTCCTTA	0.488000														37			37		0	0	1	0	0
SMC1A	8243	broad.mit.edu	37	X	53426541	53426541	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:53426541T>C	uc004dsg.3	-	15	2601	c.2532A>G	c.(2530-2532)aaA>aaG	p.K844K	SMC1A_uc011moe.2_Silent_p.K822K	NM_006306	NP_006297	Q14683	SMC1A_HUMAN	Homo sapiens structural maintenance of chromosomes 1A (SMC1A), mRNA.	844					DNA repair|cell cycle checkpoint|cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage	cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm	ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						CATTTTCATCTTTTTTCACTG	0.383000														66			18		0	0	1	0	0
ZNF200	7752	broad.mit.edu	37	16	3273916	3273916	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:3273916G>T	uc002cuj.2	-	4	1796	c.1164C>A	c.(1162-1164)gcC>gcA	p.A388A	ZNF200_uc002cum.3_Silent_p.A387A|ZNF200_uc002cuk.2_Silent_p.A388A|ZNF200_uc010bti.2_Silent_p.A387A|ZNF200_uc002cui.2_Silent_p.A387A|ZNF200_uc002cul.3_Silent_p.A387A	NM_003454	NP_932354	P98182	ZN200_HUMAN	Homo sapiens zinc finger protein 200 (ZNF200), transcript variant 1, mRNA.	388					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(4)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	17						GGGTCTTACAGGCTGAGTGGG	0.483000														259			22		9.86323e-18	1.25926e-17	1	1	0
APOC4	346	broad.mit.edu	37	19	45448728	45448728	+	RNA	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:45448728C>A	uc002pah.3	+	2		c.590C>A			APOC4_uc021uvn.1_5'Flank	NM_001646		P55056	APOC4_HUMAN	Homo sapiens apolipoprotein C-IV (APOC4), mRNA.						lipid metabolic process|positive regulation of sequestering of triglyceride|triglyceride homeostasis	high-density lipoprotein particle|very-low-density lipoprotein particle	lipid transporter activity			breast(1)|endometrium(1)|lung(2)	4	Lung NSC(12;0.00858)|all_lung(12;0.0197)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00334)|Epithelial(262;0.178)		GTTCATACTTCTCCAATAAAT	0.478000														6			4		0.150653	0.152248	1	1	0
MICAL3	57553	broad.mit.edu	37	22	18368817	18368817	+	Splice_Site	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:18368817C>A	uc002zng.4	-	16	2421	c.2068_splice	c.e16-1	p.E690_splice	MICAL3_uc011agl.2_Splice_Site_p.E690_splice|MICAL3_uc002znh.2_Splice_Site_p.E690_splice|MICAL3_uc002znj.1_Splice_Site_p.E390_splice|MICAL3_uc002znk.1_Splice_Site_p.E690_splice|MICAL3_uc002znl.1_Splice_Site_p.E323_splice|MICAL3_uc002znm.3_Splice_Site_p.E191_splice|MICAL3_uc010grf.3_Splice_Site_p.E690_splice	NM_015241	NP_056056	Q7RTP6	MICA3_HUMAN	Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 3 (MICAL3), transcript variant 1, mRNA.	690	Poly-Glu.					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		GGAGCTTCCTCCTGGTCAATG	0.612000														107			11		0.00829132	0.00860413	1	1	0
TRPM1	4308	broad.mit.edu	37	15	31318475	31318475	+	Splice_Site	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:31318475C>A	uc021sia.1	-	26	3862	c.3548_splice	c.e26-1	p.K1183_splice	TRPM1_uc010azy.3_Splice_Site_p.K1051_splice|TRPM1_uc001zfl.3_Splice_Site|TRPM1_uc021shz.1_Splice_Site_p.K1166_splice|TRPM1_uc001zfm.3_Splice_Site_p.K1144_splice	NM_001252020	NP_001238949	Q7Z4N2	TRPM1_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 1 (TRPM1), transcript variant 1, mRNA.	1144					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		AGGAAGAGCTCTGTGTGAAGG	0.512000														16			9		0.307466	0.308579	1	1	0
BTG4	54766	broad.mit.edu	37	11	111369364	111369364	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:111369364C>T	uc001plj.3	-	1	338	c.138G>A	c.(136-138)tgG>tgA	p.W46*	BTG4_uc001plk.3_Nonsense_Mutation_p.W46*	NM_017589	NP_060059	Q9NY30	BTG4_HUMAN	Homo sapiens B-cell translocation gene 4 (BTG4), mRNA.	46					cell cycle arrest|negative regulation of cell proliferation|neuron differentiation					large_intestine(2)|upper_aerodigestive_tract(1)	3		all_cancers(61;3.78e-13)|all_epithelial(67;5.29e-08)|Melanoma(852;3.15e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0204)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;1.22e-06)|BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|all cancers(92;2.18e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0509)		AATCAGAGTGCCAGTGACTTC	0.433000														33			18		0	0	1	0	0
LINGO1	84894	broad.mit.edu	37	15	77906437	77906437	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:77906437T>C	uc002bct.1	-	1	1864	c.1812A>G	c.(1810-1812)gcA>gcG	p.A604A	LINGO1_uc002bcu.1_Silent_p.A598A	NM_032808	NP_116197	Q96FE5	LIGO1_HUMAN	Homo sapiens leucine rich repeat and Ig domain containing 1 (LINGO1), mRNA.	604					negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						AGCTGATGCCTGCGTCCGACT	0.652000														10			6		0	0	1	0	0
TCTN2	79867	broad.mit.edu	37	12	124180977	124180977	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:124180977A>C	uc001ufp.3	+	11	1456	c.1328A>C	c.(1327-1329)aAg>aCg	p.K443T	TCTN2_uc009zya.3_Missense_Mutation_p.K442T	NM_024809	NP_079085	Q96GX1	TECT2_HUMAN	Homo sapiens tectonic family member 2 (TCTN2), transcript variant 1, mRNA.	443					cilium assembly|smoothened signaling pathway	integral to membrane				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)		CAACTTGGCAAGCCTGTCCGA	0.438000														50			35		0	0	1	0	0
SH3RF1	57630	broad.mit.edu	37	4	170038810	170038810	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:170038810G>A	uc003isa.1	-	8	1976	c.1641C>T	c.(1639-1641)ggC>ggT	p.G547G	SH3RF1_uc010irc.1_Silent_p.G247G	NM_020870	NP_065921	Q7Z6J0	SH3R1_HUMAN	Homo sapiens SH3 domain containing ring finger 1 (SH3RF1), mRNA.	547						Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		TCCCAGCCACGCCATTTCCCT	0.582000														25			12		0	0	1	0	0
DDHD2	23259	broad.mit.edu	37	8	38092032	38092032	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:38092032C>T	uc003xlc.3	+	2	541	c.341C>T	c.(340-342)aCg>aTg	p.T114M	DDHD2_uc003xla.2_Missense_Mutation_p.T114M|DDHD2_uc003xlb.3_Missense_Mutation_p.T114M|DDHD2_uc011lbl.1_5'UTR	NM_001164232	NP_056029	O94830	DDHD2_HUMAN	Homo sapiens DDHD domain containing 2 (DDHD2), transcript variant 2, mRNA.	114					lipid catabolic process	centrosome	hydrolase activity|metal ion binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)|urinary_tract(2)	28	Colorectal(12;0.000442)	all_lung(54;0.0657)|Lung NSC(58;0.175)	BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977)			AGACGATGTACGTGGTTTTAC	0.438000														92			66		0	0	1	0	0
IBTK	25998	broad.mit.edu	37	6	82912354	82912354	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:82912354T>G	uc003pjl.1	-	17	3147	c.2620A>C	c.(2620-2622)Aag>Cag	p.K874Q	IBTK_uc011dyu.1_5'UTR|IBTK_uc011dyv.1_Missense_Mutation_p.K874Q|IBTK_uc011dyw.1_Missense_Mutation_p.K673Q|IBTK_uc010kbi.1_Missense_Mutation_p.K568Q|IBTK_uc003pjm.2_Missense_Mutation_p.K874Q	NM_015525	NP_056340	Q9P2D0	IBTK_HUMAN	Homo sapiens inhibitor of Bruton agammaglobulinemia tyrosine kinase (IBTK), mRNA.	874					negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity			central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		GCAGCATTCTTCAGGGTAACT	0.328000														63			46		0	0	1	0	0
BFSP1	631	broad.mit.edu	37	20	17505504	17505504	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:17505504G>A	uc002wpo.3	-	1	466	c.427C>T	c.(427-429)Cgg>Tgg	p.R143W	BFSP1_uc002wpp.3_Missense_Mutation_p.R18W|BFSP1_uc010zrn.2_Missense_Mutation_p.R4W|BFSP1_uc010zro.2_Missense_Mutation_p.R4W	NM_001195	NP_001186	Q12934	BFSP1_HUMAN	Homo sapiens beaded filament structural protein 1, filensin (BFSP1), transcript variant 1, mRNA.	143	Coil 1B.|Rod.					cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)|stomach(1)	18						TTGTTAAGCCGTTCAAGCATT	0.423000														77			46		0	0	1	0	0
GBF1	8729	broad.mit.edu	37	10	104120794	104120794	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:104120794C>T	uc001kux.2	+	12	1699	c.1405C>T	c.(1405-1407)Cga>Tga	p.R469*	GBF1_uc001kuy.2_Nonsense_Mutation_p.R469*|GBF1_uc001kuz.2_Nonsense_Mutation_p.R470*	NM_004193	NP_004184	Q92538	GBF1_HUMAN	Homo sapiens golgi brefeldin A resistant guanine nucleotide exchange factor 1 (GBF1), transcript variant 1, mRNA.	469					COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		CAGCATAGAGCGACTAAACCT	0.473000														110			52		0	0	1	0	0
HPGDS	27306	broad.mit.edu	37	4	95255669	95255669	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:95255669C>T	uc003hte.1	-	1	203	c.112G>A	c.(112-114)Gac>Aac	p.D38N		NM_014485	NP_055300	O60760	HPGDS_HUMAN	Homo sapiens hematopoietic prostaglandin D synthase (HPGDS), mRNA.	38	GST N-terminal.				locomotory behavior|prostaglandin biosynthetic process|signal transduction	cytoplasm|nucleus	calcium ion binding|glutathione transferase activity|magnesium ion binding|prostaglandin-D synthase activity|protein homodimerization activity			breast(1)|cervix(1)|lung(3)|ovary(1)|urinary_tract(1)	7					Glutathione(DB00143)	TCAGGCCAGTCAGCTTGTTCT	0.318000														38			24		0	0	1	0	0
TRPV3	162514	broad.mit.edu	37	17	3458120	3458120	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:3458120C>T	uc002fvr.2	-	1	347	c.25G>A	c.(25-27)Gtg>Atg	p.V9M	TRPV3_uc010vrk.1_Non-coding_Transcript|TRPV3_uc002fvt.1_Missense_Mutation_p.V9M|TRPV3_uc010vrj.1_5'UTR|TRPV3_uc002fvu.3_Missense_Mutation_p.V9M	NM_145068	NP_659505	Q8NET8	TRPV3_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 3 (TRPV3), mRNA.	9						integral to membrane	calcium channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35					Menthol(DB00825)	ATGAGAGGCACCATCTCCTTG	0.622000														27			12		0	0	1	0	0
HEPN1	641654	broad.mit.edu	37	11	124789722	124789722	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:124789722C>T	uc001qbj.1	+	0	577	c.76C>T	c.(76-78)Caa>Taa	p.Q26*	HEPACAM_uc009zbj.3_3'UTR|HEPACAM_uc001qbk.3_3'UTR	NM_001037558	NP_001032647	Q6WQI6	HEPN1_HUMAN	Homo sapiens hepatocellular carcinoma, down-regulated 1 (HEPN1), mRNA.	26						cytoplasm				large_intestine(1)|lung(1)|stomach(1)	3	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0287)		ACTAGGGATGCAAGGACCCTT	0.498000														28			19		0	0	1	0	0
MDC1	9656	broad.mit.edu	37	6	30671921	30671921	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:30671921T>C	uc003nrg.4	-	9	5479	c.5039A>G	c.(5038-5040)cAg>cGg	p.Q1680R	MDC1_uc003nrf.4_Intron|MDC1_uc011dmp.1_Missense_Mutation_p.Q1287R	NM_014641	NP_055456	Q14676	MDC1_HUMAN	Homo sapiens mediator of DNA-damage checkpoint 1 (MDC1), mRNA.	1680					cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						TGTTTTGCTCTGACCACCCTG	0.542000								Other conserved DNA damage response genes						53			37		0	0	1	0	0
PLXNB1	5364	broad.mit.edu	37	3	48465435	48465435	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:48465435C>A	uc003csw.2	-	2	856	c.586G>T	c.(586-588)Gct>Tct	p.A196S	PLXNB1_uc003csu.2_Missense_Mutation_p.A196S|PLXNB1_uc003csx.2_Missense_Mutation_p.A196S|PLXNB1_uc010hjx.1_Non-coding_Transcript	NM_002673	NP_002664	O43157	PLXB1_HUMAN	Homo sapiens plexin B1 (PLXNB1), transcript variant 1, mRNA.	196	Sema.				axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GAGAAGGCAGCTTGGGGGTCG	0.662000														5			4		0.00024832	0.000267289	1	1	0
MFI2	4241	broad.mit.edu	37	3	196751283	196751283	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:196751283G>A	uc003fxk.4	-	3	492	c.378C>T	c.(376-378)ggC>ggT	p.G126G	MFI2_uc003fxl.4_Silent_p.G126G|MFI2_uc011bua.2_Silent_p.G126G	NM_005929	NP_005920	P08582	TRFM_HUMAN	Homo sapiens antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5 (MFI2), transcript variant 1, mRNA.	126	Transferrin-like 1.				cellular iron ion homeostasis|iron ion transport	anchored to membrane|extracellular region|integral to plasma membrane	ferric iron binding|protein binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1)	20	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)		AGGACTTCACGCCTTTCAGGG	0.637000														40			18		0	0	1	0	0
C5	727	broad.mit.edu	37	9	123732462	123732462	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:123732462G>A	uc004bkv.3	-	31	4178	c.4148C>T	c.(4147-4149)aCt>aTt	p.T1383I		NM_001735	NP_001726	P01031	CO5_HUMAN	Homo sapiens complement component 5 (C5), mRNA.	1383					G-protein coupled receptor protein signaling pathway|activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	AATATCCTGAGTATCGATTTT	0.343000														25			13		0	0	1	0	0
TM9SF4	9777	broad.mit.edu	37	20	30729426	30729426	+	Missense_Mutation	SNP	G	A	A	rs139891092		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:30729426G>A	uc002wxj.2	+	3	591	c.356G>A	c.(355-357)cGa>cAa	p.R119Q	TM9SF4_uc010ztr.1_Missense_Mutation_p.R45Q|TM9SF4_uc010zts.1_Missense_Mutation_p.R26Q|TM9SF4_uc002wxk.2_Missense_Mutation_p.R102Q	NM_014742	NP_055557	Q92544	TM9S4_HUMAN	Homo sapiens transmembrane 9 superfamily protein member 4 (TM9SF4), mRNA.	119						integral to membrane				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GAGCAGAGCCGACTCGTGGCC	0.577000														54			38		0	0	1	0	0
ABCA6	23460	broad.mit.edu	37	17	67079048	67079048	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:67079048G>A	uc002jhw.1	-	35	4757	c.4582C>T	c.(4582-4584)Ctg>Ttg	p.L1528L		NM_080284	NP_525023	Q8N139	ABCA6_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 6 (ABCA6), mRNA.	1528					transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					AAAAGCTTCAGAATCTCAGTG	0.448000														166			112		0	0	1	0	0
CLCNKA	1187	broad.mit.edu	37	1	16377038	16377038	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:16377038C>A	uc001axx.4	+	10	1132	c.996C>A	c.(994-996)acC>acA	p.T332T	CLCNKA_uc021ogl.1_Intron|CLCNKA_uc021ogm.1_Silent_p.T163T|CLCNKA_uc001axy.4_Silent_p.T163T	NM_000085	NP_000076	P51800	CLCKA_HUMAN	Homo sapiens chloride channel Kb (CLCNKB), transcript variant 1, mRNA.	332					excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	CTCTGGCCACCTTGGTTCTCG	0.647000														62			6		0.00198382	0.00208369	1	1	0
IDS	3423	broad.mit.edu	37	X	148585691	148585691	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:148585691G>A	uc011mxe.2	-	1	453	c.236C>T	c.(235-237)gCg>gTg	p.A79V	IDS_uc011mxf.2_Missense_Mutation_p.R4C|IDS_uc011mxg.2_5'UTR|IDS_uc010nsu.2_Intron|IDS_uc004fcw.4_Intron|IDS_uc011mxh.2_Missense_Mutation_p.A79V|IDS_uc011mxi.2_Non-coding_Transcript|IDS_uc011mxj.2_Missense_Mutation_p.A79V	NM_000202	NP_000193	P22304	IDS_HUMAN	Homo sapiens iduronate 2-sulfatase (IDS), transcript variant 1, mRNA.	79			A -> E (in MPS2; mild form).			lysosome	iduronate-2-sulfatase activity|metal ion binding			NS(1)|breast(3)|endometrium(5)|large_intestine(2)|lung(8)|prostate(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					ACATACCTGCGCAAAGGCATT	0.572000														10			10		0	0	1	0	0
RGS11	8786	broad.mit.edu	37	16	320571	320571	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:320571C>T	uc002cgj.1	-	14	1160	c.1157G>A	c.(1156-1158)cGc>cAc	p.R386H	LUC7L_uc021szo.1_Intron|RGS11_uc002cgi.1_Missense_Mutation_p.R365H|RGS11_uc010bqs.1_Missense_Mutation_p.R375H|RGS11_uc002cgk.1_Missense_Mutation_p.R202H	NM_183337	NP_003825	O94810	RGS11_HUMAN	Homo sapiens regulator of G-protein signaling 11 (RGS11), transcript variant 1, mRNA.	386	RGS.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			endometrium(1)|kidney(1)|lung(4)|ovary(1)|pancreas(1)	8		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				CAGGACATAGCGGTGGGGCTG	0.667000														5			5		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179640599	179640599	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179640599G>A	uc021vsy.1	-	27	6217	c.5992C>T	c.(5992-5994)Cgc>Tgc	p.R1998C	TTN_uc021vsz.1_Missense_Mutation_p.R1952C|TTN_uc021vta.1_Missense_Mutation_p.R1952C|TTN_uc021vtb.1_Missense_Mutation_p.R1952C|TTN_uc002unb.2_Missense_Mutation_p.R1998C|AK123298_uc002unc.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	1998			R -> H.				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)			AATTTACTGCGCAGCTCTTCC	0.453000														107			56		0	0	1	0	0
UACA	55075	broad.mit.edu	37	15	70959353	70959353	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:70959353C>T	uc002asr.3	-	15	3774	c.3670G>A	c.(3670-3672)Gtt>Att	p.V1224I	UACA_uc010uke.2_Missense_Mutation_p.V1115I|UACA_uc002asq.3_Missense_Mutation_p.V1211I|UACA_uc010bin.1_Missense_Mutation_p.V1199I	NM_018003	NP_060473	Q9BZF9	UACA_HUMAN	Homo sapiens uveal autoantigen with coiled-coil domains and ankyrin repeats (UACA), transcript variant 1, mRNA.	1224						cytoskeleton|extracellular region				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						GACAAGTCAACTACCTCTCTA	0.338000														71			23		0	0	1	0	0
KIAA0182	23199	broad.mit.edu	37	16	85688435	85688435	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:85688435G>T	uc002fix.3	+	4	709	c.635G>T	c.(634-636)aGt>aTt	p.S212I	KIAA0182_uc002fiw.3_Missense_Mutation_p.S108I|KIAA0182_uc002fiy.3_Missense_Mutation_p.S139I	NM_014615	NP_055430	Q14687	GSE1_HUMAN	Homo sapiens KIAA0182 (KIAA0182), transcript variant 1, mRNA.	212							protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	35						GTGCCCCCCAGTACCGTGACC	0.682000														10			8		0.00621372	0.00645399	1	1	0
ABCB4	5244	broad.mit.edu	37	7	87069024	87069024	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:87069024C>T	uc003uiv.1	-	13	1766	c.1690G>A	c.(1690-1692)Gac>Aac	p.D564N	ABCB4_uc003uiw.1_Missense_Mutation_p.D564N|ABCB4_uc003uix.1_Missense_Mutation_p.D564N	NM_018849	NP_061337	P21439	MDR3_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 4 (ABCB4), transcript variant B, mRNA.	564	ABC transporter 1.		D -> G (in PFIC3).		cellular lipid metabolic process	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity	p.L563F(1)		breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					CTTTCTGTGTCCAATGCTGAC	0.527000														38			61		0	0	1	0	0
ATE1	11101	broad.mit.edu	37	10	123503324	123503324	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:123503324C>T	uc001lfp.3	-	11	1510	c.1428G>A	c.(1426-1428)aaG>aaA	p.K476K	ATE1_uc001lfq.3_Silent_p.K476K|ATE1_uc010qtr.2_Silent_p.K361K|ATE1_uc010qts.2_Silent_p.K380K|ATE1_uc010qtt.2_Silent_p.K469K|ATE1_uc001lfr.3_Silent_p.K177K|ATE1_uc009xzu.3_Non-coding_Transcript	NM_007041	NP_008972	O95260	ATE1_HUMAN	Homo sapiens arginyltransferase 1 (ATE1), transcript variant 2, mRNA.	476					protein arginylation	cytoplasm|nucleus	acyltransferase activity|arginyltransferase activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212)				TGATGGCTCTCTTGTGAAACA	0.463000														42			34		0	0	1	0	0
MLL3	58508	broad.mit.edu	37	7	151878436	151878436	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:151878436G>A	uc003wla.3	-	35	6728	c.6509C>T	c.(6508-6510)aCt>aTt	p.T2170I	MLL3_uc003wkz.3_Missense_Mutation_p.T1231I	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	2170	Pro-rich.				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		TGGGTCAACAGTAGTAGGCCG	0.463000			N		medulloblastoma									96			41		0	0	1	0	0
DENND1A	57706	broad.mit.edu	37	9	126146102	126146102	+	Silent	SNP	G	A	A	rs145330954	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:126146102G>A	uc011lzm.1	-	19	1915	c.1701C>T	c.(1699-1701)ggC>ggT	p.G567G	DENND1A_uc011lzl.1_Silent_p.G374G|DENND1A_uc004bny.1_Silent_p.G338G|DENND1A_uc004bnz.1_Silent_p.G556G|DENND1A_uc010mwh.1_5'UTR	NM_020946	NP_065997	Q8TEH3	DEN1A_HUMAN	Homo sapiens DENN/MADD domain containing 1A (DENND1A), transcript variant 1, mRNA.	556						cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						CTGGGACAGGGCCTGTGGACT	0.657000														66			34		0	0	1	0	0
PTK2B	2185	broad.mit.edu	37	8	27287914	27287914	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:27287914G>A	uc003xfn.2	+	11	1456	c.648G>A	c.(646-648)aaG>aaA	p.K216K	PTK2B_uc022ate.1_Silent_p.K216K|PTK2B_uc003xfp.2_Silent_p.K216K|PTK2B_uc003xfq.2_Silent_p.K216K|PTK2B_uc010luq.1_5'Flank|PTK2B_uc003xfr.1_5'Flank	NM_173174	NP_775268	Q14289	FAK2_HUMAN	Homo sapiens PTK2B protein tyrosine kinase 2 beta (PTK2B), transcript variant 1, mRNA.	216	FERM.				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)		TTTTCCCAAAGCAGATGCAGG	0.547000														58			25		0	0	1	0	0
CAMTA1	23261	broad.mit.edu	37	1	7725163	7725163	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:7725163C>A	uc001aoi.3	+	8	2763	c.2556C>A	c.(2554-2556)gtC>gtA	p.V852V		NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN	Homo sapiens calmodulin binding transcription activator 1 (CAMTA1), transcript variant 1, mRNA.	852					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		CCGAGGTGGTCTCGGCCGCCT	0.667000			T	WWTR1	epitheliod hemangioendothelioma									33			19		1.96292e-10	2.36921e-10	1	1	0
FAM175B	23172	broad.mit.edu	37	10	126518046	126518046	+	Splice_Site	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:126518046G>T	uc001lib.4	+	7	708	c.663_splice	c.e7+1	p.Q221_splice		NM_032182	NP_115558	Q15018	F175B_HUMAN	Homo sapiens family with sequence similarity 175, member B (FAM175B), mRNA.	221						BRISC complex	polyubiquitin binding			NS(1)	1						AGAAAGTTCAGGTAACTGATT	0.328000														53			6		5.9392e-07	6.7814e-07	1	1	0
SLC43A1	8501	broad.mit.edu	37	11	57268692	57268692	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:57268692C>T	uc001nkk.3	-	2	383	c.265G>A	c.(265-267)Gcc>Acc	p.A89T	SLC43A1_uc001nkl.3_Missense_Mutation_p.A89T	NM_001198810	NP_001185739	O75387	LAT3_HUMAN	Homo sapiens solute carrier family 43, member 1 (SLC43A1), transcript variant 2, mRNA.	89					cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	neutral amino acid transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						AGGGTGGTGGCGCTGAGCACG	0.652000														40			19		0	0	1	0	0
DOCK4	9732	broad.mit.edu	37	7	111617249	111617249	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:111617249G>A	uc003vfy.3	-	7	908	c.639C>T	c.(637-639)aaC>aaT	p.N213N	DOCK4_uc003vfx.3_Silent_p.N213N|DOCK4_uc003vga.1_5'UTR|DOCK4_uc010ljt.1_Silent_p.N213N	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN	Homo sapiens dedicator of cytokinesis 4 (DOCK4), mRNA.	213					cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity|receptor tyrosine kinase binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				CCTCTCCCAGGTTGGAACACA	0.507000														16			6		0	0	1	0	0
IFIT1	3434	broad.mit.edu	37	10	91163009	91163009	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:91163009T>C	uc001kgi.3	+	1	1125	c.977T>C	c.(976-978)aTa>aCa	p.I326T	LIPA_uc001kgb.4_Intron|LIPA_uc001kgc.4_Intron|IFIT1_uc009xtt.3_Missense_Mutation_p.I326T|IFIT1_uc001kgj.3_Missense_Mutation_p.I295T	NM_001548	NP_001539	P09914	IFIT1_HUMAN	Homo sapiens interferon-induced protein with tetratricopeptide repeats 1 (IFIT1), transcript variant 2, mRNA.	326					cellular response to exogenous dsRNA|intracellular transport of viral proteins in host cell|negative regulation of defense response to virus by host|negative regulation of helicase activity|negative regulation of protein binding|negative regulation of viral genome replication|positive regulation of viral genome replication|response to virus|type I interferon-mediated signaling pathway	cytoplasm	protein binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	15						AGATCAGCCATATTTCATTTT	0.418000														39			8		0	0	1	0	0
ZMYM6	9204	broad.mit.edu	37	1	35457900	35457900	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:35457900T>C	uc001byh.3	-	14	2309	c.2081A>G	c.(2080-2082)aAa>aGa	p.K694R	ZMYM6_uc001byf.1_Missense_Mutation_p.K694R|ZMYM6_uc021olg.1_5'UTR|ZMYM6_uc010oht.2_Missense_Mutation_p.K597R|ZMYM6_uc009vup.3_Missense_Mutation_p.K500R|ZMYM6_uc009vuq.1_Missense_Mutation_p.K694R	NM_007167	NP_009098	O95789	ZMYM6_HUMAN	Homo sapiens zinc finger, MYM-type 6 (ZMYM6), mRNA.	694					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				TGTGACGGGTTTGCATGATAT	0.433000														104			11		0	0	1	0	0
E4F1	1877	broad.mit.edu	37	16	2285119	2285119	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:2285119A>G	uc002cpm.3	+	12	2021	c.1973A>G	c.(1972-1974)gAg>gGg	p.E658G	E4F1_uc010bsi.3_Missense_Mutation_p.R641G|E4F1_uc010bsj.3_Missense_Mutation_p.E481G|DNASE1L2_uc002cpn.3_5'Flank|DNASE1L2_uc002cpo.3_5'Flank|DNASE1L2_uc002cpp.3_5'Flank|DNASE1L2_uc002cpq.3_5'Flank	NM_004424	NP_004415	Q66K89	E4F1_HUMAN	Homo sapiens E4F transcription factor 1 (E4F1), mRNA.	658					cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of growth	cytoplasm|nucleoplasm	DNA binding|ligase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			ovary(1)	1						GAGGCCACGGAGATCATCGAG	0.701000														42			7		0	0	1	0	0
DENND1A	57706	broad.mit.edu	37	9	126371738	126371738	+	Nonsense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:126371738C>A	uc011lzm.1	-	8	860	c.646G>T	c.(646-648)Gga>Tga	p.G216*	DENND1A_uc011lzl.1_Nonsense_Mutation_p.G65*|DENND1A_uc004bny.1_Nonsense_Mutation_p.G65*|DENND1A_uc004bnz.1_Nonsense_Mutation_p.G248*|DENND1A_uc004boa.1_Nonsense_Mutation_p.G248*|DENND1A_uc004bob.1_Nonsense_Mutation_p.G218*|DENND1A_uc004boc.3_Nonsense_Mutation_p.G216*	NM_020946	NP_065997	Q8TEH3	DEN1A_HUMAN	Homo sapiens DENN/MADD domain containing 1A (DENND1A), transcript variant 1, mRNA.	248	DENN.					cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity	p.A215V(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						AAATGGATTCCTATGAGGTAG	0.458000														40			4		0.150653	0.152248	1	1	0
ITGAE	3682	broad.mit.edu	37	17	3620083	3620083	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:3620083C>T	uc002fwo.4	-	29	3442	c.3343G>A	c.(3343-3345)Gtc>Atc	p.V1115I	ITGAE_uc002fwn.4_Non-coding_Transcript	NM_002208	NP_002199	P38570	ITAE_HUMAN	Homo sapiens integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide) (ITGAE), mRNA.	1115					cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		TTCAGGAAGACGACAGTGATC	0.408000														52			27		0	0	1	0	0
ASH1L	55870	broad.mit.edu	37	1	155317611	155317611	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155317611C>T	uc009wqq.3	-	19	8134	c.7654G>A	c.(7654-7656)Gcc>Acc	p.A2552T	ASH1L_uc001fkt.3_Missense_Mutation_p.A2547T|ASH1L_uc021pay.1_5'Flank	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	Homo sapiens ash1 (absent, small, or homeotic)-like (Drosophila) (ASH1L), mRNA.	2552					DNA packaging|cell-cell signaling|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|chromosome|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	p.I2552T(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			TCAATCTGGGCTGATGCCTCA	0.488000														82			51		0	0	1	0	0
HRC	3270	broad.mit.edu	37	19	49658019	49658019	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:49658019C>A	uc002pmv.3	-	0	663	c.476G>T	c.(475-477)aGc>aTc	p.S159I	TRPM4_uc002pmw.3_5'Flank|TRPM4_uc010emu.3_5'Flank|TRPM4_uc010yak.2_5'Flank|TRPM4_uc002pmx.3_5'Flank|TRPM4_uc010emv.3_5'Flank|TRPM4_uc010yal.2_5'Flank	NM_002152	NP_002143	P23327	SRCH_HUMAN	Homo sapiens histidine rich calcium binding protein (HRC), mRNA.	159	4 X tandem repeats, acidic.|6 X approximate tandem repeats.				muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		GTCTTGATGGCTGTGGCTCCT	0.587000														44			9		1.08611e-07	1.25606e-07	1	1	0
ALS2CL	259173	broad.mit.edu	37	3	46722850	46722850	+	Missense_Mutation	SNP	C	T	T	rs117431144	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:46722850C>T	uc003cqa.2	-	12	1515	c.1322G>A	c.(1321-1323)cGg>cAg	p.R441Q	ALS2CL_uc003cpz.2_5'UTR|ALS2CL_uc003cqc.2_Non-coding_Transcript|ALS2CL_uc003cqb.2_Missense_Mutation_p.R441Q	NM_001190707	NP_667340	Q60I27	AL2CL_HUMAN	Homo sapiens ALS2 C-terminal like (ALS2CL), transcript variant 2, mRNA.	441					endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|identical protein binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		AAATCCGTGCCGCAGGCCCTC	0.642000														63			33		0	0	1	0	0
ENPP6	133121	broad.mit.edu	37	4	185074733	185074733	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:185074733C>A	uc003iwc.3	-	1	537	c.395G>T	c.(394-396)aGg>aTg	p.R132M		NM_153343	NP_699174	Q6UWR7	ENPP6_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 6 (ENPP6), mRNA.	132					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)		GTAGACCTTCCTTTTGGCCTT	0.473000														23			14		1.3612e-06	1.54683e-06	1	1	0
COX17	10063	broad.mit.edu	37	3	119394034	119394034	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:119394034G>T	uc003ecz.1	-	1	240	c.154C>A	c.(154-156)Cac>Aac	p.H52N	AK095366_uc003edb.1_5'Flank	NM_005694	NP_005685	Q14061	COX17_HUMAN	Homo sapiens COX17 cytochrome c oxidase assembly homolog (S. cerevisiae) (COX17), nuclear gene encoding mitochondrial protein, mRNA.	52					copper ion transport|generation of precursor metabolites and energy	mitochondrial intermembrane space	copper chaperone activity	p.A51A(1)		central_nervous_system(1)|kidney(1)|large_intestine(1)	3				GBM - Glioblastoma multiforme(114;0.227)		CATTCCTTGTGGGCCTCAATT	0.343000														74			12		4.93089e-13	6.11992e-13	1	1	0
DGKK	139189	broad.mit.edu	37	X	50144083	50144083	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:50144083G>A	uc010njr.2	-	7	1407	c.1363C>T	c.(1363-1365)Cgc>Tgc	p.R455C		NM_001013742	NP_001013764	Q5KSL6	DGKK_HUMAN	Homo sapiens diacylglycerol kinase, kappa (DGKK), mRNA.	455					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					ACTGATGAGCGATGGCTTCTG	0.483000														10			4		0	0	1	0	0
RDX	5962	broad.mit.edu	37	11	110124812	110124812	+	Missense_Mutation	SNP	C	T	T	rs142346566	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:110124812C>T	uc009yxy.3	-	8	1128	c.818G>A	c.(817-819)cGt>cAt	p.R273H	RDX_uc009yxx.1_Non-coding_Transcript|RDX_uc009yxz.3_Intron|RDX_uc009yya.3_Intron|RDX_uc001pku.3_Missense_Mutation_p.R273H|RDX_uc010rwe.2_Missense_Mutation_p.R137H	NM_002906	NP_002897	P35241	RADI_HUMAN	Homo sapiens radixin (RDX), mRNA.	273	FERM.				actin filament capping	Golgi apparatus|cleavage furrow|cytoskeleton|extrinsic to membrane|nucleolus|plasma membrane	actin binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	18		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)		GATTCTCAGACGAGGTGCATA	0.343000														22			22		0	0	1	0	0
WISP3	8838	broad.mit.edu	37	6	112390780	112390780	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:112390780G>A	uc003pvo.3	+	4	1212	c.1076G>A	c.(1075-1077)tGc>tAc	p.C359Y	WISP3_uc003pvm.3_Missense_Mutation_p.C341Y|WISP3_uc003pvn.3_Non-coding_Transcript	NM_198239	NP_003871	O95389	WISP3_HUMAN	Homo sapiens WNT1 inducible signaling pathway protein 3 (WISP3), transcript variant 3, mRNA.	341					cell-cell signaling|regulation of cell growth|signal transduction	extracellular region|soluble fraction	growth factor activity|insulin-like growth factor binding			breast(1)|central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	13		all_cancers(87;0.000196)|Acute lymphoblastic leukemia(125;1.18e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0283)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0827)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246)		CAGAGAAACTGCAGAGAACCT	0.343000														92			8		0	0	1	0	0
SCN2A	6326	broad.mit.edu	37	2	166152580	166152580	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:166152580C>T	uc002udc.3	+	1	537	c.247C>T	c.(247-249)Ccc>Tcc	p.P83S	SCN2A_uc002udd.3_Missense_Mutation_p.P83S|SCN2A_uc002ude.3_Missense_Mutation_p.P83S	NM_001040142	NP_066287	Q99250	SCN2A_HUMAN	Homo sapiens sodium channel, voltage-gated, type II, alpha subunit (SCN2A), transcript variant 2, mRNA.	83					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	GGATCTGGACCCCTACTATAT	0.453000														34			25		0	0	1	0	0
FAM160B1	57700	broad.mit.edu	37	10	116596000	116596000	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:116596000C>A	uc001lcb.3	+	4	852	c.517C>A	c.(517-519)Cta>Ata	p.L173I	FAM160B1_uc001lcc.3_Missense_Mutation_p.L173I	NM_020940	NP_065991	Q5W0V3	F16B1_HUMAN	Homo sapiens family with sequence similarity 160, member B1 (FAM160B1), transcript variant 1, mRNA.	173								p.L173L(1)		NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)	25						TAACTTTTTCCTAGAGGTATG	0.343000														215			21		4.26978e-12	5.24748e-12	1	1	0
IL17RD	54756	broad.mit.edu	37	3	57132155	57132155	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:57132155G>A	uc003dil.3	-	11	1665	c.1576C>T	c.(1576-1578)Cga>Tga	p.R526*	IL17RD_uc003dik.3_Nonsense_Mutation_p.R502*|IL17RD_uc010hna.3_Nonsense_Mutation_p.R382*|IL17RD_uc011bex.1_Nonsense_Mutation_p.R382*	NM_017563	NP_060033	Q8NFM7	I17RD_HUMAN	Homo sapiens interleukin 17 receptor D (IL17RD), mRNA.	526						Golgi membrane|integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)	16				KIRC - Kidney renal clear cell carcinoma(284;0.0173)|Kidney(284;0.0204)		CTGCCCTGTCGCGTGTGCTGC	0.577000														18			16		0	0	1	0	0
KRTAP19-1	337882	broad.mit.edu	37	21	31852407	31852407	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:31852407C>T	uc011acx.2	-	0	230	c.230G>A	c.(229-231)cGc>cAc	p.R77H		NM_181607	NP_853638	Q8IUB9	KR191_HUMAN	Homo sapiens keratin associated protein 19-1 (KRTAP19-1), mRNA.	77	26 X 2 AA repeats of G-[YCGS].					intermediate filament		p.R77H(2)		cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	6						GTACGATGGGCGGCAGCAGCC	0.488000														118			110		0	0	1	0	0
PKN2	5586	broad.mit.edu	37	1	89294209	89294209	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:89294209A>G	uc001dmn.3	+	18	2807	c.2465A>G	c.(2464-2466)gAa>gGa	p.E822G	PKN2_uc010osp.2_Missense_Mutation_p.E806G|PKN2_uc010osq.2_Missense_Mutation_p.E665G|PKN2_uc009wcv.3_Missense_Mutation_p.E774G|PKN2_uc010osr.2_Missense_Mutation_p.E487G	NM_006256	NP_006247	Q16513	PKN2_HUMAN	Homo sapiens protein kinase N2 (PKN2), mRNA.	822	Protein kinase.				signal transduction	cytoplasm	ATP binding|histone deacetylase binding|protein kinase C activity			breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1)	33		Lung NSC(277;0.123)		all cancers(265;0.0136)|Epithelial(280;0.0301)		GGCACTCCTGAATTTCTTGCC	0.378000														61			25		0	0	1	0	0
NDST2	8509	broad.mit.edu	37	10	75566178	75566178	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:75566178C>T	uc001jvk.2	-	5	2107	c.1303G>A	c.(1303-1305)Gtg>Atg	p.V435M	NDST2_uc010qks.1_Missense_Mutation_p.V61M|NDST2_uc010qkt.1_Missense_Mutation_p.V312M|NDST2_uc001jvl.1_5'Flank|NDST2_uc009xro.2_Missense_Mutation_p.V61M|NDST2_uc010qku.1_Missense_Mutation_p.V310M	NM_003635	NP_003626	P52849	NDST2_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2 (NDST2), mRNA.	435	Heparan sulfate N-deacetylase 2.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30	Prostate(51;0.0112)					ATGGGGTACACACCCGAGTGG	0.617000														23			18		0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	138376002	138376002	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:138376002T>C	uc002tva.1	+	17	3516	c.3516T>C	c.(3514-3516)ggT>ggC	p.G1172G	THSD7B_uc010zbj.1_Intron	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CACCCTGTGGTCAAGGCGTCA	0.493000														26			3		0	0	1	0	0
HERC4	26091	broad.mit.edu	37	10	69682740	69682740	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:69682740C>T	uc001jng.4	-	25	3433	c.3122G>A	c.(3121-3123)cGc>cAc	p.R1041H	HERC4_uc009xpq.3_Missense_Mutation_p.R573H|HERC4_uc001jnf.4_Non-coding_Transcript|HERC4_uc001jnh.4_Missense_Mutation_p.R1033H|HERC4_uc009xpr.3_Missense_Mutation_p.R963H|HERC4_uc001jni.4_Missense_Mutation_p.R777H	NM_022079	NP_071362	Q5GLZ8	HERC4_HUMAN	Homo sapiens hect domain and RLD 4 (HERC4), transcript variant 1, mRNA.	1041	HECT.				cell differentiation|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis	cytosol	ubiquitin-protein ligase activity			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	27						CAGTTTAGAGCGTAGAGTTTC	0.358000														103			57		0	0	1	0	0
FAT1	2195	broad.mit.edu	37	4	187539523	187539523	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:187539523T>C	uc003izf.3	-	9	8405	c.8217A>G	c.(8215-8217)aaA>aaG	p.K2739K		NM_005245	NP_005236	Q14517	FAT1_HUMAN	Homo sapiens FAT tumor suppressor homolog 1 (Drosophila) (FAT1), mRNA.	2739	Cadherin 25.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GAGTATTCCCTTTGACCAGGC	0.448000										HNSCC(5;0.00058)				78			49		0	0	1	0	0
LRRC33	375387	broad.mit.edu	37	3	196386837	196386837	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:196386837G>A	uc003fwv.3	+	2	427	c.323G>A	c.(322-324)cGc>cAc	p.R108H		NM_198565	NP_940967	Q86YC3	LRC33_HUMAN	Homo sapiens leucine rich repeat containing 33 (LRRC33), mRNA.	108						integral to membrane		p.R108C(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(6)|lung(17)|ovary(3)|prostate(3)	40	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.9e-23)|all cancers(36;1.76e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00326)		GGTCACCTGCGCAGCCTGGTC	0.672000														22			9		0	0	1	0	0
DHCR24	1718	broad.mit.edu	37	1	55319719	55319719	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:55319719G>A	uc001cyc.1	-	6	1338	c.1209C>T	c.(1207-1209)aaC>aaT	p.N403N	DHCR24_uc010ooi.1_Silent_p.N46N|DHCR24_uc010ooj.1_Silent_p.N217N|DHCR24_uc010ook.1_Silent_p.N362N	NM_014762	NP_055577	Q15392	DHC24_HUMAN	Homo sapiens 24-dehydrocholesterol reductase (DHCR24), mRNA.	403					anti-apoptosis|apoptosis|cell cycle arrest|cholesterol biosynthetic process|negative regulation of caspase activity|neuroprotection|response to oxidative stress|skin development	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|nucleus	delta24-sterol reductase activity|enzyme binding|flavin adenine dinucleotide binding|peptide antigen binding			large_intestine(2)|liver(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7						CGTGGATGTCGTTTTGGAAGG	0.627000														9			3		0	0	1	0	0
TMPRSS7	344805	broad.mit.edu	37	3	111782478	111782478	+	Splice_Site	SNP	C	T	T	rs150107555	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:111782478C>T	uc010hqb.2	+	10	1347	c.1177_splice	c.e10+1	p.V393_splice	TMPRSS7_uc011bhr.1_Splice_Site_p.V248_splice	NM_001042575	NP_001036040	Q7RTY8	TMPS7_HUMAN	Homo sapiens transmembrane protease, serine 7 (TMPRSS7), transcript variant 1, mRNA.	519	CUB 2.				proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity			breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						AACTGTTTTGCGGTGGGTATT	0.378000														80			60		0	0	1	0	0
STAU1	6780	broad.mit.edu	37	20	47736634	47736634	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:47736634G>A	uc002xud.3	-	8	1409	c.998C>T	c.(997-999)aCg>aTg	p.T333M	STAU1_uc002xua.3_Missense_Mutation_p.T252M|STAU1_uc002xub.3_Missense_Mutation_p.T258M|STAU1_uc002xuc.3_Missense_Mutation_p.T252M|STAU1_uc002xue.3_Missense_Mutation_p.T252M|STAU1_uc002xuf.3_Missense_Mutation_p.T258M|STAU1_uc002xug.3_Missense_Mutation_p.T333M	NM_017453	NP_059348	O95793	STAU1_HUMAN	Homo sapiens staufen, RNA binding protein, homolog 1 (Drosophila) (STAU1), transcript variant T3, mRNA.	333	DRBM 3.					microtubule associated complex|rough endoplasmic reticulum|stress granule	double-stranded RNA binding			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	23			BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)			GTTGGTGCCCGTTCCTTCTGC	0.527000														37			4		0	0	1	0	0
AKR7A2	8574	broad.mit.edu	37	1	19635124	19635124	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:19635124G>A	uc001bbw.3	-	1	333	c.311C>T	c.(310-312)aCc>aTc	p.T104I	AKR7A2_uc009vpi.1_Missense_Mutation_p.T104I	NM_003689	NP_003680	O43488	ARK72_HUMAN	Homo sapiens aldo-keto reductase family 7, member A2 (aflatoxin aldehyde reductase) (AKR7A2), mRNA.	104					carbohydrate metabolic process|cellular aldehyde metabolic process	Golgi apparatus	alditol:NADP+ 1-oxidoreductase activity|electron carrier activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00461)|BRCA - Breast invasive adenocarcinoma(304;1.83e-05)|Kidney(64;0.000167)|GBM - Glioblastoma multiforme(114;0.00115)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GTTGGCCTTGGTGGCAATTTT	0.478000														31			23		0	0	1	0	0
EML1	2009	broad.mit.edu	37	14	100363487	100363487	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:100363487G>A	uc001ygr.3	+	7	809	c.740G>A	c.(739-741)gGg>gAg	p.G247E	EML1_uc010avt.1_Missense_Mutation_p.G215E|EML1_uc010tww.2_Missense_Mutation_p.G216E|EML1_uc001ygq.3_Missense_Mutation_p.G247E|EML1_uc001ygs.3_Missense_Mutation_p.G228E	NM_001008707	NP_001008707	O00423	EMAL1_HUMAN	Homo sapiens echinoderm microtubule associated protein like 1 (EML1), transcript variant 1, mRNA.	228						cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding	p.G247V(2)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				CAAAGCTATGGGTACAGGGGT	0.443000														22			17		0	0	1	0	0
ARHGEF37	389337	broad.mit.edu	37	5	148997783	148997783	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:148997783C>A	uc003lra.1	+	5	767	c.703C>A	c.(703-705)Ctg>Atg	p.L235M		NM_001001669	NP_001001669	A1IGU5	ARH37_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 37 (ARHGEF37), mRNA.	235					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3)	17						CCGGGAGCGGCTGGCCCGCAT	0.622000														49			35		4.32679e-17	5.50406e-17	1	1	0
NUMA1	4926	broad.mit.edu	37	11	71725431	71725431	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:71725431C>T	uc001orl.1	-	14	3290	c.3118G>A	c.(3118-3120)Gag>Aag	p.E1040K	NUMA1_uc009ysw.1_Missense_Mutation_p.E603K|NUMA1_uc001ork.1_Intron|NUMA1_uc001orm.1_Missense_Mutation_p.E1040K|NUMA1_uc001orn.2_Missense_Mutation_p.E603K|NUMA1_uc009ysx.1_Missense_Mutation_p.E1040K|NUMA1_uc001oro.1_Missense_Mutation_p.E1040K	NM_006185	NP_006176	Q14980	NUMA1_HUMAN	Homo sapiens nuclear mitotic apparatus protein 1 (NUMA1), mRNA.	1040					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						ACACGCTGCTCGTTGAGGGCG	0.647000			T	RARA	APL									48			25		0	0	1	0	0
SIGLEC8	27181	broad.mit.edu	37	19	51955822	51955822	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:51955822G>T	uc002pwt.3	-	6	1378	c.1311C>A	c.(1309-1311)ccC>ccA	p.P437P	SIGLEC8_uc010yda.2_Silent_p.P328P|SIGLEC8_uc002pwu.3_Intron|SIGLEC8_uc010eox.2_Silent_p.P344P	NM_014442	NP_055257	Q9NYZ4	SIGL8_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 8 (SIGLEC8), mRNA.	437					cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		CCCCTGACGAGGGGGCAACAG	0.572000														40			7		0.000157383	0.000170012	1	1	0
PTPRU	10076	broad.mit.edu	37	1	29644280	29644280	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:29644280G>A	uc001bru.3	+	25	3693	c.3564G>A	c.(3562-3564)ccG>ccA	p.P1188P	PTPRU_uc009vtq.3_Silent_p.P1184P|PTPRU_uc009vtr.3_Silent_p.P1175P|PTPRU_uc001brw.3_Silent_p.P1178P|PTPRU_uc001brx.3_5'Flank	NM_005704	NP_005695	Q92729	PTPRU_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, U (PTPRU), transcript variant 3, mRNA.	1188	Tyrosine-protein phosphatase 2.				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		CGGTCACCCCGCCGCTGGACG	0.672000														21			22		0	0	1	0	0
NOM1	64434	broad.mit.edu	37	7	156743262	156743262	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:156743262A>C	uc003wmy.3	+	0	846	c.831A>C	c.(829-831)gaA>gaC	p.E277D		NM_138400	NP_612409	Q5C9Z4	NOM1_HUMAN	Homo sapiens nucleolar protein with MIF4G domain 1 (NOM1), mRNA.	277	Glu-rich.				RNA metabolic process	nucleolus	protein binding			endometrium(5)|kidney(4)|large_intestine(9)|lung(7)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		aggaagcagaagcgcagagcg	0.542000														8			9		0	0	1	0	0
KLHL1	57626	broad.mit.edu	37	13	70681612	70681612	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:70681612A>G	uc001vip.3	-	0	1014	c.220T>C	c.(220-222)Tcc>Ccc	p.S74P	KLHL1_uc010thm.2_Missense_Mutation_p.S74P|ATXN8OS_uc010aej.1_Non-coding_Transcript	NM_020866	NP_065917	Q9NR64	KLHL1_HUMAN	Homo sapiens kelch-like 1 (Drosophila) (KLHL1), mRNA.	74	Ser-rich.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		gaggaagaggaggaagGCTTC	0.592000														43			18		0	0	1	0	0
SORBS2	8470	broad.mit.edu	37	4	186544816	186544816	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:186544816G>A	uc003iyg.3	-	12	2129	c.2097C>T	c.(2095-2097)agC>agT	p.S699S	SORBS2_uc003iyh.3_Intron|SORBS2_uc011ckw.2_Intron|SORBS2_uc003iyi.3_Intron|SORBS2_uc011ckx.2_Intron|SORBS2_uc003iyk.3_Intron|SORBS2_uc003iym.3_Silent_p.S685S|SORBS2_uc003iyl.3_Silent_p.S585S|SORBS2_uc003iyn.1_Intron|SORBS2_uc011cku.2_Intron|SORBS2_uc011ckv.2_Silent_p.S489S|SORBS2_uc003iyd.3_Intron|SORBS2_uc003iye.3_Intron|SORBS2_uc003iya.3_Intron|SORBS2_uc003iyb.3_Intron|SORBS2_uc003iyc.3_Intron|SORBS2_uc003iyf.3_Intron|SORBS2_uc003iyo.1_Intron	NM_021069	NP_066547	O94875	SRBS2_HUMAN	Homo sapiens sorbin and SH3 domain containing 2 (SORBS2), transcript variant 2, mRNA.	585						Z disc|actin cytoskeleton|nucleus|perinuclear region of cytoplasm	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		GCTGCTCATCGCTGGTGACTT	0.592000														32			22		0	0	1	0	0
DNMT1	1786	broad.mit.edu	37	19	10265689	10265689	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10265689C>T	uc002mng.3	-	18	1668	c.1488G>A	c.(1486-1488)gcG>gcA	p.A496A	DNMT1_uc010xlc.2_Silent_p.A512A|DNMT1_uc002mnh.3_Silent_p.A391A|DNMT1_uc010xld.2_Silent_p.A496A	NM_001379	NP_001370	P26358	DNMT1_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 1 (DNMT1), transcript variant 2, mRNA.	496	DNA replication foci-targeting sequence (By similarity).|Homodimerization.|Interaction with the PRC2/EED-EZH2 complex (By similarity).				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	CAAATATGGGCGCATACTCGG	0.517000														44			22		0	0	1	0	0
MPG	4350	broad.mit.edu	37	16	133123	133123	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:133123C>T	uc002cfn.3	+	3	706	c.388C>T	c.(388-390)Cca>Tca	p.P130S	MPG_uc002cfm.3_Missense_Mutation_p.P113S|MPG_uc010bqp.3_Missense_Mutation_p.P113S|MPG_uc002cfo.3_Missense_Mutation_p.P125S	NM_002434	NP_001015054	P29372	3MG_HUMAN	Homo sapiens N-methylpurine-DNA glycosylase (MPG), transcript variant 1, mRNA.	130					DNA dealkylation involved in DNA repair|depurination	nucleoplasm	alkylbase DNA N-glycosylase activity|damaged DNA binding|identical protein binding			endometrium(4)|kidney(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9		all_cancers(16;9.01e-08)|all_epithelial(16;7.64e-07)|Hepatocellular(780;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239)				ATACCTGGGGCCAGAGGATGA	0.622000								Base excision repair (BER), DNA glycosylases						113			82		0	0	1	0	0
SPTBN1	6711	broad.mit.edu	37	2	54886386	54886386	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:54886386C>T	uc002rxu.3	+	30	6588	c.6339C>T	c.(6337-6339)gcC>gcT	p.A2113A	SPTBN1_uc002rxx.3_Silent_p.A2100A|SPTBN1_uc002rxy.3_Silent_p.A258A|SPTBN1_uc010you.2_Silent_p.A103A	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 1 (SPTBN1), transcript variant 1, mRNA.	2113					actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			CAGAGGAAGCCGAGTCCCAGC	0.582000														98			73		0	0	1	0	0
IMPG1	3617	broad.mit.edu	37	6	76715175	76715175	+	Missense_Mutation	SNP	G	T	T	rs140525637	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:76715175G>T	uc003pik.1	-	9	1094	c.964C>A	c.(964-966)Ctc>Atc	p.L322I		NM_001563	NP_001554	Q17R60	IMPG1_HUMAN	Homo sapiens interphotoreceptor matrix proteoglycan 1 (IMPG1), mRNA.	322	SEA 1.				visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				AAAGACAGGAGGTCACTTGCA	0.453000														46			28		2.44723e-14	3.06345e-14	1	1	0
ZNF791	163049	broad.mit.edu	37	19	12738638	12738638	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:12738638C>A	uc002mua.2	+	3	457	c.295C>A	c.(295-297)Cca>Aca	p.P99T	ZNF791_uc010xml.1_Missense_Mutation_p.P67T|ZNF791_uc010dyu.1_5'UTR|ZNF791_uc010xmm.1_5'UTR	NM_153358	NP_699189	Q3KP31	ZN791_HUMAN	Homo sapiens zinc finger protein 791 (ZNF791), mRNA.	99					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						CGGAGTAAAACCATATGAGTG	0.453000														93			46		8.20599e-20	1.05717e-19	1	1	0
EFCAB7	84455	broad.mit.edu	37	1	64027519	64027519	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:64027519G>T	uc001dbf.3	+	10	1782	c.1488G>T	c.(1486-1488)gaG>gaT	p.E496D		NM_032437	NP_115813	A8K855	EFCB7_HUMAN	Homo sapiens EF-hand calcium binding domain 7 (EFCAB7), mRNA.	496							calcium ion binding			breast(1)|endometrium(4)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19						AAGCTCTGGAGTTGACAGAGG	0.348000														41			5		1	1	1	1	0
ZSCAN16	80345	broad.mit.edu	37	6	28093347	28093347	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:28093347A>G	uc003nkm.3	+	1	226	c.126A>G	c.(124-126)caA>caG	p.Q42Q	AK309286_uc010jqw.1_Intron|AK309286_uc003nkk.1_Intron|AK309286_uc003nkl.1_Intron|ZSCAN16_uc011dky.1_Silent_p.Q42Q	NM_025231	NP_079507	Q9H4T2	ZSC16_HUMAN	Homo sapiens zinc finger and SCAN domain containing 16 (ZSCAN16), mRNA.	42	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(5)|liver(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						TCTATAGACAACACTTCAGGA	0.522000														255			15		0	0	1	0	0
HNRNPH2	3188	broad.mit.edu	37	X	100667626	100667626	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:100667626G>T	uc022cai.1	+	0	650	c.650G>T	c.(649-651)aGa>aTa	p.R217I	RPL36A-HNRNPH2_uc022cag.1_3'UTR|RPL36A-HNRNPH2_uc022cah.1_3'UTR|HNRNPH2_uc004ehm.3_Missense_Mutation_p.R217I|HNRNPH2_uc004ehn.3_Missense_Mutation_p.R217I	NM_019597	NP_062543	P55795	HNRH2_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein H2 (H') (HNRNPH2), transcript variant 1, mRNA.	217					nuclear mRNA splicing, via spliceosome	actin cytoskeleton|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	RNA binding|nucleotide binding|protein binding			breast(3)|large_intestine(2)|lung(6)|skin(1)	12						GGGGCTGGCAGAGGGTATAAT	0.537000														60			11		2.80697e-09	3.3309e-09	1	1	0
ARL6	84100	broad.mit.edu	37	3	97487043	97487043	+	Missense_Mutation	SNP	C	T	T	rs104893680		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:97487043C>T	uc003drv.3	+	2	405	c.92C>T	c.(91-93)aCg>aTg	p.T31M	ARL6_uc003drw.3_Non-coding_Transcript|ARL6_uc003dru.3_Missense_Mutation_p.T31M|ARL6_uc010hoy.3_Missense_Mutation_p.T31M	NM_177976	NP_816931	Q9H0F7	ARL6_HUMAN	Homo sapiens ADP-ribosylation factor-like 6 (ARL6), transcript variant 2, mRNA.	31			T -> M (in BBS3; abrogates the GTP- binding ability without affecting GDP- binding/dissociating properties; increased proteasomal degradation).|T -> R (in BBS3; locked in a GDP-bound state that differs from its wild-type counterpart which is mainly GTP-bound; increased proteasomal degradation).		Wnt receptor signaling pathway|cilium assembly|determination of left/right symmetry|melanosome transport|protein polymerization|protein targeting to membrane|small GTPase mediated signal transduction|visual perception	axonemal microtubule|cilium axoneme|cilium membrane|membrane coat|microtubule basal body	GTP binding|metal ion binding|phospholipid binding|protein binding			large_intestine(1)|lung(4)	5		Lung NSC(201;0.0193)|Prostate(884;0.174)		LUSC - Lung squamous cell carcinoma(29;0.0118)|Lung(72;0.0189)		AGTGGCAAAACGACGATCATT	0.348000														40			19		0	0	1	0	0
ATP2C2	9914	broad.mit.edu	37	16	84444186	84444186	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:84444186G>A	uc010chj.3	+	4	519	c.430G>A	c.(430-432)Gtg>Atg	p.V144M	ATP2C2_uc002fhx.3_Missense_Mutation_p.V144M|ATP2C2_uc002fhy.3_Missense_Mutation_p.V161M|ATP2C2_uc002fhz.3_Silent_p.S13S	NM_014861	NP_055676	O75185	AT2C2_HUMAN	Homo sapiens ATPase, Ca++ transporting, type 2C, member 2 (ATP2C2), mRNA.	144					ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						AGTGCTTGTCGTGGTCACTGT	0.582000														67			26		0	0	1	0	0
KLHL21	9903	broad.mit.edu	37	1	6653596	6653596	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:6653596G>A	uc001aoa.3	-	3	1675	c.1623C>T	c.(1621-1623)agC>agT	p.S541S	KLHL21_uc001anz.1_3'UTR|KLHL21_uc009vme.3_Silent_p.S174S	NM_014851	NP_055666	Q9UJP4	KLH21_HUMAN	Homo sapiens kelch-like 21 (Drosophila) (KLHL21), mRNA.	541					anaphase|cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex|cytoplasm|polar microtubule				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|prostate(2)	8	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.36e-07)|COAD - Colon adenocarcinoma(227;1.4e-05)|Kidney(185;4.95e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000528)|KIRC - Kidney renal clear cell carcinoma(229;0.000927)|STAD - Stomach adenocarcinoma(132;0.0172)|READ - Rectum adenocarcinoma(331;0.0644)		GCCCCACCACGCTCCACGCGC	0.612000														21			12		0	0	1	0	0
DYRK1A	1859	broad.mit.edu	37	21	38845169	38845169	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:38845169C>A	uc002ywk.3	+	1	270	c.194C>A	c.(193-195)cCt>cAt	p.P65H	DYRK1A_uc010gno.1_Non-coding_Transcript|DYRK1A_uc002ywg.1_Non-coding_Transcript|DYRK1A_uc002ywh.1_Missense_Mutation_p.P36H|DYRK1A_uc002ywi.3_Missense_Mutation_p.P65H|DYRK1A_uc002ywj.3_Missense_Mutation_p.P65H|DYRK1A_uc002ywm.3_Missense_Mutation_p.P65H	NM_001396	NP_001387	Q13627	DYR1A_HUMAN	Homo sapiens dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A (DYRK1A), transcript variant 1, mRNA.	65					nervous system development|peptidyl-tyrosine phosphorylation|protein autophosphorylation	nuclear speck	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein self-association|protein serine/threonine kinase activity			breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						ATTCAGCAACCTCTAACTAAC	0.408000														100			6		0.0215528	0.0220531	1	1	0
ZNF234	10780	broad.mit.edu	37	19	44661371	44661371	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:44661371A>G	uc002oym.3	+	5	1509	c.1202A>G	c.(1201-1203)aAa>aGa	p.K401R	ZNF234_uc002oyl.4_Missense_Mutation_p.K401R	NM_006630	NP_006621	Q14588	ZN234_HUMAN	Homo sapiens zinc finger protein 234 (ZNF234), transcript variant 1, mRNA.	401					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23		Prostate(69;0.0435)				AAGCCATACAAATGCAATGAG	0.423000														26			3		0	0	1	0	0
MRGPRD	116512	broad.mit.edu	37	11	68747524	68747524	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:68747524G>A	uc010rqf.2	-	0	932	c.932C>T	c.(931-933)aCg>aTg	p.T311M		NM_198923	NP_944605	Q8TDS7	MRGRD_HUMAN	Homo sapiens MAS-related GPR, member D (MRGPRD), mRNA.	311						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)	22			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CACGGTGGGCGTCTCCCCACC	0.687000														54			29		0	0	1	0	0
CDHR2	54825	broad.mit.edu	37	5	176003072	176003072	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:176003072C>A	uc021yie.1	+	11	1354	c.1080C>A	c.(1078-1080)gcC>gcA	p.A360A	CDHR2_uc003mem.2_Silent_p.A360A|CDHR2_uc003men.1_Silent_p.A360A	NM_001171976	NP_060145	Q9BYE9	CDHR2_HUMAN	Homo sapiens cadherin-related family member 2 (CDHR2), transcript variant 1, mRNA.	360					homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						GCCTCCCAGCCTGCACCTTCA	0.577000														29			5		0.184627	0.186034	1	1	0
AK310665	0	broad.mit.edu	37	17	20330193	20330193	+	RNA	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:20330193G>A	uc010cqz.3	+	1		c.145G>A								Homo sapiens cDNA, FLJ17707.																		GTTTTGATCCGAGTGCTTTTT	0.448000														40			19		0	0	1	0	0
STAT1	6772	broad.mit.edu	37	2	191848459	191848459	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:191848459G>T	uc010fse.2	-	15	1787	c.1355C>A	c.(1354-1356)tCt>tAt	p.S452Y	STAT1_uc021vue.1_Missense_Mutation_p.S264Y|STAT1_uc002usj.2_Missense_Mutation_p.S452Y|STAT1_uc002usk.2_Missense_Mutation_p.S452Y|STAT1_uc002usl.2_Missense_Mutation_p.S454Y|STAT1_uc010fsf.1_Missense_Mutation_p.S264Y	NM_007315	NP_009330	P42224	STAT1_HUMAN	Homo sapiens signal transducer and activator of transcription 1, 91kDa (STAT1), transcript variant alpha, mRNA.	452					I-kappaB kinase/NF-kappaB cascade|activation of caspase activity|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|calcium ion binding|protein binding|signal transducer activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		Fludarabine(DB01073)	AACGGGCAGAGAGGTCGTCTA	0.493000														62			6		5.9392e-07	6.7814e-07	1	1	0
STOX1	219736	broad.mit.edu	37	10	70646364	70646364	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:70646364G>T	uc001jos.2	+	2	2899	c.2812G>T	c.(2812-2814)Gat>Tat	p.D938Y	STOX1_uc001joq.3_Missense_Mutation_p.D828Y|STOX1_uc001jor.3_Intron|STOX1_uc009xpy.3_Intron|STOX1_uc021prw.1_Missense_Mutation_p.D828Y	NM_001130161	NP_689922	Q6ZVD7	STOX1_HUMAN	Homo sapiens storkhead box 1 (STOX1), transcript variant 2, mRNA.	938						cytoplasm|nucleolus	DNA binding			breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						TAGTGGAATAGATTCTCCACG	0.507000														21			21		7.45023e-12	9.14443e-12	1	1	0
ADAMTS12	81792	broad.mit.edu	37	5	33576661	33576661	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:33576661C>A	uc003jia.1	-	18	3633	c.3470G>T	c.(3469-3471)aGt>aTt	p.S1157I	ADAMTS12_uc010iuq.1_Missense_Mutation_p.S1072I	NM_030955	NP_112217	P58397	ATS12_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 12 (ADAMTS12), mRNA.	1157	Spacer 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						CCCTGAGCCACTGTGAATCTC	0.468000										HNSCC(64;0.19)				100			11		1.5842e-08	1.86177e-08	1	1	0
TLN2	83660	broad.mit.edu	37	15	62994230	62994230	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:62994230C>T	uc002alb.4	+	14	1736	c.1736C>T	c.(1735-1737)gCg>gTg	p.A579V		NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	Homo sapiens talin 2 (TLN2), mRNA.	579					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						GTGGGATGTGCGATCACCACT	0.537000														31			22		0	0	1	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5237190	5237190	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:5237190T>C	uc003jdl.3	+	13	2270	c.2132T>C	c.(2131-2133)gTt>gCt	p.V711A	ADAMTS16_uc003jdk.1_Missense_Mutation_p.V711A|ADAMTS16_uc010itk.1_Intron	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 16 (ADAMTS16), mRNA.	711	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						AGCCGTAATGTTTGTATAGAT	0.393000														58			34		0	0	1	0	0
RBMS3	27303	broad.mit.edu	37	3	29628682	29628682	+	Missense_Mutation	SNP	G	A	A	rs145048415		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:29628682G>A	uc003cel.3	+	3	755	c.385G>A	c.(385-387)Gca>Aca	p.A129T	RBMS3_uc010hfq.3_Missense_Mutation_p.A129T|RBMS3_uc003cek.3_Missense_Mutation_p.A129T|RBMS3_uc010hfr.3_Missense_Mutation_p.A129T|RBMS3_uc003cem.3_Missense_Mutation_p.A128T	NM_001003793	NP_001003793	Q6XE24	RBMS3_HUMAN	Homo sapiens RNA binding motif, single stranded interacting protein 3 (RBMS3), transcript variant 1, mRNA.	129	RRM 1.					cytoplasm	RNA binding|nucleotide binding			breast(1)|central_nervous_system(1)|large_intestine(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	11		Ovarian(412;0.0956)				TGGCGTGCAGGCACAGATGGC	0.418000														25			13		0	0	1	0	0
ZNF780A	284323	broad.mit.edu	37	19	40581101	40581101	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:40581101T>C	uc010xvh.2	-	5	1399	c.1251A>G	c.(1249-1251)ccA>ccG	p.P417P	ZNF780A_uc002omw.4_Intron|ZNF780A_uc002omy.3_Silent_p.P416P|ZNF780A_uc002omz.3_Silent_p.P416P	NM_001142577	NP_001136049	O75290	Z780A_HUMAN	Homo sapiens zinc finger protein 780A (ZNF780A), transcript variant 1, mRNA.	416					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TACATTCATATGGTTTTATAC	0.383000														231			18		0	0	1	0	0
MARCH8	220972	broad.mit.edu	37	10	45956831	45956831	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:45956831T>C	uc001jci.1	-	4	510	c.271A>G	c.(271-273)Agc>Ggc	p.S91G	MARCH8_uc001jch.2_Missense_Mutation_p.S373G|MARCH8_uc001jcj.1_Missense_Mutation_p.S91G|MARCH8_uc001jck.1_Missense_Mutation_p.S91G|MARCH8_uc001jcg.1_5'UTR	NM_001002266	NP_659458	Q5T0T0	MARH8_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 8 (MARCH8), transcript variant 7, mRNA.	91						cytoplasmic vesicle membrane|early endosome membrane|integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	12						ATCAGGGGGCTCTCATCATCT	0.582000														51			7		0	0	1	0	0
PPP1R2	5504	broad.mit.edu	37	3	195256664	195256664	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:195256664G>A	uc003fup.3	-	1	537	c.161C>T	c.(160-162)gCg>gTg	p.A54V	PPP1R2_uc003fuq.4_Missense_Mutation_p.A54V	NM_006241	NP_006232	P41236	IPP2_HUMAN	Homo sapiens protein phosphatase 1, regulatory (inhibitor) subunit 2 (PPP1R2), mRNA.	54	Required for binding PPP1CC (By similarity).				glycogen metabolic process|regulation of phosphoprotein phosphatase activity|regulation of signal transduction		protein binding|protein serine/threonine phosphatase inhibitor activity			endometrium(2)|kidney(1)|large_intestine(1)|urinary_tract(2)	6	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)		Epithelial(36;2.64e-22)|all cancers(36;2.69e-20)|OV - Ovarian serous cystadenocarcinoma(49;3.52e-19)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;9.55e-05)		ATGATACGTCGCCAAGATGTT	0.353000														62			27		0	0	1	0	0
CHRNA3	1136	broad.mit.edu	37	15	78894311	78894311	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:78894311C>T	uc002bec.3	-	4	1174	c.673G>A	c.(673-675)Gag>Aag	p.E225K	CHRNA3_uc002beb.3_Missense_Mutation_p.E225K|CHRNA3_uc002bea.3_Non-coding_Transcript	NM_000743	NP_000734	P32297	ACHA3_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 3 (CHRNA3), transcript variant 1, mRNA.	225					activation of transmembrane receptor protein tyrosine kinase activity|behavioral response to nicotine|locomotory behavior|regulation of acetylcholine secretion|regulation of dendrite morphogenesis|regulation of excitatory postsynaptic membrane potential|regulation of smooth muscle contraction|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|dendrite|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic density|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	p.C224G(1)		central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TAGATCTCCTCGCAGCAGTTG	0.547000														29			3		0	0	1	0	0
MICAL3	57553	broad.mit.edu	37	22	18385396	18385396	+	Splice_Site	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:18385396C>T	uc002zng.4	-	4	942	c.589_splice	c.e4+1	p.R197_splice	MICAL3_uc011agl.2_Splice_Site_p.R197_splice|MICAL3_uc002znh.2_Splice_Site_p.R197_splice|MICAL3_uc002znj.1_Intron|MICAL3_uc002znk.1_Splice_Site_p.R197_splice|MICAL3_uc002znl.1_Splice_Site|MICAL3_uc010grf.3_Splice_Site_p.R197_splice|MICAL3_uc011agm.1_Splice_Site_p.R197_splice	NM_015241	NP_056056	Q7RTP6	MICA3_HUMAN	Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 3 (MICAL3), transcript variant 1, mRNA.	197						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		GTATAACTTACGTTCATTCTC	0.468000														8			7		0	0	1	0	0
COL9A3	1299	broad.mit.edu	37	20	61458647	61458647	+	Splice_Site	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:61458647G>A	uc002ydm.3	+	16	849	c.846_splice	c.e16+1	p.L282_splice		NM_001853	NP_001844	Q14050	CO9A3_HUMAN	Homo sapiens collagen, type IX, alpha 3 (COL9A3), mRNA.	282	Triple-helical region 3 (COL3).				axon guidance	collagen type IX				breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	28	Breast(26;5.68e-08)					GGGTGACCTCGTAAGTGAGAG	0.597000														23			20		0	0	1	0	0
SUMF2	25870	broad.mit.edu	37	7	56141896	56141896	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:56141896G>T	uc011kcw.2	+	3	457	c.426G>T	c.(424-426)aaG>aaT	p.K142N	PSPH_uc003trj.3_Intron|SUMF2_uc011kcv.2_Non-coding_Transcript|SUMF2_uc003trt.3_Missense_Mutation_p.K35N|SUMF2_uc003trv.3_Missense_Mutation_p.K142N|SUMF2_uc011kcy.2_Intron|SUMF2_uc011kcz.2_Intron|SUMF2_uc003trx.3_Intron|SUMF2_uc011kda.2_Intron|SUMF2_uc011kcx.2_Missense_Mutation_p.K142N	NM_015411	NP_001139805	Q8NBJ7	SUMF2_HUMAN	Homo sapiens sulfatase modifying factor 2 (SUMF2), transcript variant 2, mRNA.	123						endoplasmic reticulum lumen	metal ion binding			breast(2)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	14	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CAGTGGAAAAGGCATTTTGGA	0.552000											OREG0018081	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		184			12		0.00010058	0.000109296	1	1	0
NLRP1	22861	broad.mit.edu	37	17	5424984	5424984	+	Missense_Mutation	SNP	A	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:5424984A>T	uc002gci.3	-	12	4198	c.3643T>A	c.(3643-3645)Ttg>Atg	p.L1215M	NLRP1_uc002gcg.1_Missense_Mutation_p.L1219M|NLRP1_uc002gch.4_Missense_Mutation_p.L1215M|NLRP1_uc002gck.3_Missense_Mutation_p.L1215M|NLRP1_uc002gcj.3_Missense_Mutation_p.L1185M|NLRP1_uc002gcl.3_Missense_Mutation_p.L1185M	NM_033004	NP_127497	Q9C000	NALP1_HUMAN	Homo sapiens NLR family, pyrin domain containing 1 (NLRP1), transcript variant 1, mRNA.	1215					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	NALP1 inflammasome complex|cytoplasm|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				AGGACTCCCAAGGGGGAGAAG	0.542000														61			5		0	0	1	0	0
TCEB3B	51224	broad.mit.edu	37	18	44559863	44559863	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:44559863C>A	uc002lcr.1	-	0	2126	c.1773G>T	c.(1771-1773)caG>caT	p.Q591H	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN	Homo sapiens transcription elongation factor B polypeptide 3B (elongin A2) (TCEB3B), mRNA.	591	Activation domain (By similarity).				regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CCTTGAAGTCCTGGAAACAAT	0.512000														70			7		0.00198382	0.00208369	1	1	0
WDFY1	57590	broad.mit.edu	37	2	224759041	224759041	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:224759041C>T	uc002vnq.3	-	7	792	c.741G>A	c.(739-741)tcG>tcA	p.S247S		NM_020830	NP_065881	Q8IWB7	WDFY1_HUMAN	Homo sapiens WD repeat and FYVE domain containing 1 (WDFY1), mRNA.	247						cytosol|early endosome|nucleus	1-phosphatidylinositol binding|zinc ion binding	p.Q246H(1)		NS(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)	18		all_lung(227;0.00682)|Lung NSC(271;0.00859)|Renal(207;0.0112)|all_hematologic(139;0.189)		Epithelial(121;5.34e-10)|all cancers(144;1.67e-07)|Lung(261;0.00807)|LUSC - Lung squamous cell carcinoma(224;0.00843)		GGTAGCACAGCGACTGCACCT	0.507000														27			9		0	0	1	0	0
RAP2C	57826	broad.mit.edu	37	X	131348449	131348449	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:131348449A>G	uc004ewp.3	-	2	1083	c.299T>C	c.(298-300)aTt>aCt	p.I100T	RAP2C_uc004ewo.3_Missense_Mutation_p.I34T|RAP2C_uc010nrk.3_Non-coding_Transcript|RAP2C_uc004ewq.4_Missense_Mutation_p.I100T	NM_021183	NP_067006	Q9Y3L5	RAP2C_HUMAN	Homo sapiens RAP2C, member of RAS oncogene family (RAP2C), mRNA.	100					Rap protein signal transduction|negative regulation of cell migration|positive regulation of protein autophosphorylation|regulation of protein tyrosine kinase activity	recycling endosome membrane	GTP binding|GTPase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(2)	8	Acute lymphoblastic leukemia(192;0.000127)					CACTCTGACAATTTGATCTCT	0.348000														40			4		0	0	1	0	0
CUEDC2	79004	broad.mit.edu	37	10	104184302	104184302	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:104184302G>A	uc001kvn.2	-	3	385	c.234C>T	c.(232-234)gaC>gaT	p.D78D	CUEDC2_uc001kvm.2_5'Flank	NM_024040	NP_076945	Q9H467	CUED2_HUMAN	Homo sapiens CUE domain containing 2 (CUEDC2), mRNA.	78						cytoplasm|nucleus	protein binding			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(1)|stomach(1)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.122)		Epithelial(162;9.17e-09)|all cancers(201;2.16e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		TCTGCATCATGTCCCCTATTG	0.582000														82			49		0	0	1	0	0
SERPINA3	12	broad.mit.edu	37	14	95088767	95088767	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:95088767C>T	uc001ydp.3	+	3	1166	c.1007C>T	c.(1006-1008)gCc>gTc	p.A336V	SERPINA3_uc001ydo.4_Missense_Mutation_p.A361V|SERPINA3_uc001ydr.3_Non-coding_Transcript|SERPINA3_uc021sbb.1_Intron|SERPINA3_uc010avg.3_Missense_Mutation_p.A336V|SERPINA3_uc001yds.3_Missense_Mutation_p.A336V	NM_001085	NP_001076	P01011	AACT_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3 (SERPINA3), mRNA.	336					acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		ATTGAGGAAGCCTTCACCAGC	0.502000														39			17		0	0	1	0	0
LIN28A	79727	broad.mit.edu	37	1	26751871	26751871	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:26751871G>T	uc001bmj.3	+	2	420	c.306G>T	c.(304-306)aaG>aaT	p.K102N	LIN28A_uc001bmi.1_Non-coding_Transcript	NM_024674	NP_078950	Q9H9Z2	LN28A_HUMAN	Homo sapiens lin-28 homolog A (C. elegans) (LIN28A), mRNA.	102	CSD.				RNA 3'-end processing|miRNA catabolic process|pre-miRNA processing|regulation of transcription, DNA-dependent|stem cell maintenance	cytoplasmic mRNA processing body|nucleolus|stress granule	DNA binding|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)	8						AGTCAGCCAAGGGTCTGGAAT	0.517000														105			9		4.68919e-08	5.46558e-08	1	1	0
DYSF	8291	broad.mit.edu	37	2	71801428	71801428	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:71801428G>A	uc010fen.3	+	29	3470	c.3329G>A	c.(3328-3330)cGc>cAc	p.R1110H	DYSF_uc010fei.3_Missense_Mutation_p.R1109H|DYSF_uc010feh.3_Missense_Mutation_p.R1078H|DYSF_uc002sig.4_Missense_Mutation_p.R1078H|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Missense_Mutation_p.R1123H|DYSF_uc010fee.3_Missense_Mutation_p.R1092H|DYSF_uc010fef.3_Missense_Mutation_p.R1109H|DYSF_uc002sie.3_Missense_Mutation_p.R1092H|DYSF_uc010feo.3_Missense_Mutation_p.R1124H|DYSF_uc010fej.3_Missense_Mutation_p.R1079H|DYSF_uc010fel.3_Missense_Mutation_p.R1079H|DYSF_uc010fem.3_Missense_Mutation_p.R1093H|DYSF_uc002sif.3_Missense_Mutation_p.R1093H|DYSF_uc010fek.3_Missense_Mutation_p.R1110H|DYSF_uc010yqy.2_5'Flank	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.	1092						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						TTCCGCCGCCGCCGCTGGCGC	0.662000														77			46		0	0	1	0	0
HLCS	3141	broad.mit.edu	37	21	38128859	38128859	+	Nonsense_Mutation	SNP	G	A	A	rs146448211	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:38128859G>A	uc010gnb.3	-	10	3407	c.1993C>T	c.(1993-1995)Cga>Tga	p.R665*	HLCS_uc021wjb.1_Nonsense_Mutation_p.R665*|HLCS_uc002yvs.3_Nonsense_Mutation_p.R665*	NM_001242784	NP_001229713	P50747	BPL1_HUMAN	Homo sapiens holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase) (HLCS), transcript variant 3, mRNA.	665					cell proliferation|histone biotinylation|response to biotin	chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix	ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(46;0.0422)			Biotin(DB00121)	ACCCAGTATCGGTAATAAAGG	0.408000														54			36		0	0	1	0	0
TAF5L	27097	broad.mit.edu	37	1	229738320	229738320	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:229738320G>A	uc001htq.3	-	3	760	c.594C>T	c.(592-594)gaC>gaT	p.D198D	TAF5L_uc001htr.3_Silent_p.D198D	NM_014409	NP_055224	O75529	TAF5L_HUMAN	Homo sapiens TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa (TAF5L), transcript variant 1, mRNA.	198					histone H3 acetylation|transcription from RNA polymerase II promoter	STAGA complex|transcription factor TFTC complex	sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)	11	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)				CAGGCTGCACGTCAAGATGAA	0.527000														45			30		0	0	1	0	0
ZNF835	90485	broad.mit.edu	37	19	57176010	57176010	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:57176010C>T	uc010ygn.2	-	1	784	c.557G>A	c.(556-558)cGc>cAc	p.R186H		NM_001005850	NP_001005850			Homo sapiens zinc finger protein 835 (ZNF835), mRNA.											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						CGTGTGCGTGCGCCAGTGGGA	0.721000														10			5		0	0	1	0	0
ANO1	55107	broad.mit.edu	37	11	70017073	70017073	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:70017073G>A	uc001opj.3	+	21	2583	c.2278G>A	c.(2278-2280)Gag>Aag	p.E760K	ANO1_uc001opl.2_Non-coding_Transcript|ANO1_uc010rqk.2_Missense_Mutation_p.E469K|ANO1_uc010rql.1_5'UTR	NM_018043	NP_060513	Q5XXA6	ANO1_HUMAN	Homo sapiens anoctamin 1, calcium activated chloride channel (ANO1), transcript variant 1, mRNA.	760					multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						CAACATCATCGAGATCCGCCT	0.592000														9			6		0	0	1	0	0
POLI	11201	broad.mit.edu	37	18	51820658	51820658	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:51820658G>A	uc002lfj.4	+	9	2112	c.2044G>A	c.(2044-2046)Gca>Aca	p.A682T	POLI_uc010xds.2_Missense_Mutation_p.A603T|POLI_uc002lfk.4_Missense_Mutation_p.A579T|POLI_uc010dpg.3_Missense_Mutation_p.A278T	NM_007195	NP_009126	Q9UNA4	POLI_HUMAN	Homo sapiens polymerase (DNA directed) iota (POLI), mRNA.	682					DNA repair|DNA replication	nucleoplasm	DNA-directed DNA polymerase activity|damaged DNA binding|metal ion binding|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(5)|ovary(3)|urinary_tract(1)	26				Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197)		GCAAACAGTAGCAACAGACTC	0.393000								DNA polymerases (catalytic subunits)						48			4		0	0	1	0	0
CMTM4	146223	broad.mit.edu	37	16	66657318	66657318	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:66657318T>G	uc002epz.3	-	2	633	c.451A>C	c.(451-453)Att>Ctt	p.I151L	CMTM4_uc002eqa.3_Missense_Mutation_p.I151L|CMTM4_uc021tjv.1_5'Flank	NM_178818	NP_848933	Q8IZR5	CKLF4_HUMAN	Homo sapiens CKLF-like MARVEL transmembrane domain containing 4 (CMTM4), transcript variant 1, mRNA.	151	MARVEL.				chemotaxis	extracellular space|integral to membrane	cytokine activity			cervix(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0811)|Epithelial(162;0.214)		ACGGCAGCAATTTCTGCTCCG	0.507000														37			14		0	0	1	0	0
PTPDC1	138639	broad.mit.edu	37	9	96847558	96847558	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:96847558G>T	uc010mrj.2	+	1	372	c.270G>T	c.(268-270)aaG>aaT	p.K90N	PTPDC1_uc004auf.2_Missense_Mutation_p.K36N|PTPDC1_uc004aug.2_Missense_Mutation_p.K36N|PTPDC1_uc004auh.2_Missense_Mutation_p.K88N|PTPDC1_uc010mri.2_Missense_Mutation_p.K88N	NM_001253829	NP_001240758	A2A3K4	PTPC1_HUMAN	Homo sapiens protein tyrosine phosphatase domain containing 1 (PTPDC1), transcript variant 3, mRNA.	36							protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						CAACACCAAAGTACACAAAAG	0.433000														38			16		4.96729e-08	5.78267e-08	1	1	0
PIF1	80119	broad.mit.edu	37	15	65108796	65108796	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:65108796G>A	uc002ant.2	-	11	1909	c.1843C>T	c.(1843-1845)Cgg>Tgg	p.R615W	PIF1_uc002anr.2_Missense_Mutation_p.R163W|PIF1_uc002ans.2_Missense_Mutation_p.R306W|PIF1_uc010uiq.1_Missense_Mutation_p.R615W	NM_025049	NP_079325	Q9H611	PIF1_HUMAN	Homo sapiens PIF1 5'-to-3' DNA helicase homolog (S. cerevisiae) (PIF1), mRNA.	615	Hydrolyzes ATP in the presence of both magnesium and single-stranded DNA; weak activity in the presence of RNA or double-stranded DNA; No unwinding activity.				negative regulation of telomerase activity|regulation of telomere maintenance|viral genome replication	nuclear chromosome, telomeric region	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' DNA/RNA helicase activity|magnesium ion binding|single-stranded DNA-dependent ATP-dependent DNA helicase activity|telomeric DNA binding			kidney(1)|lung(1)	2						CTGCCCCGCCGCAGGGTGGCA	0.672000														40			26		0	0	1	0	0
C16orf70	80262	broad.mit.edu	37	16	67154083	67154083	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:67154083C>A	uc002erd.3	+	1	297	c.133C>A	c.(133-135)Ctc>Atc	p.L45I	C16orf70_uc002erc.3_Missense_Mutation_p.L45I|C16orf70_uc002ere.1_Missense_Mutation_p.L23I	NM_025187	NP_079463	Q9BSU1	CP070_HUMAN	Homo sapiens chromosome 16 open reading frame 70 (C16orf70), mRNA.	45										cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)		CGTCCAGGTTCTCTACAGTGA	0.463000														49			45		1.35964e-18	1.74534e-18	1	1	0
OR2J3	442186	broad.mit.edu	37	6	29079847	29079847	+	Silent	SNP	A	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:29079847A>T	uc011dll.2	+	0	180	c.180A>T	c.(178-180)acA>acT	p.T60T		NM_001005216	NP_001005216	O76001	OR2J3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily J, member 3 (OR2J3), mRNA.	60					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						ATCTGCACACACCAATGTACT	0.453000														233			10		0	0	1	0	0
FAM190B	54462	broad.mit.edu	37	10	86273327	86273327	+	Silent	SNP	C	T	T	rs61739454	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:86273327C>T	uc010qmd.1	+	9	2642	c.2448C>T	c.(2446-2448)ggC>ggT	p.G816G	FAM190B_uc001kdh.1_3'UTR|FAM190B_uc001kdi.1_Silent_p.G4G|FAM190B_uc010qme.1_3'UTR			Q9H7U1	F190B_HUMAN	Homo sapiens family with sequence similarity 190, member B (FAM190B), mRNA.	112										NS(2)|endometrium(2)|kidney(4)|large_intestine(11)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	31						TGCATCAGGGCGGTGCACATC	0.498000														18			12		0	0	1	0	0
HSPD1	3329	broad.mit.edu	37	2	198358920	198358920	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:198358920G>A	uc002uui.3	-	5	798	c.661C>T	c.(661-663)Cga>Tga	p.R221*	HSPD1_uc010zgx.2_Nonsense_Mutation_p.R212*|HSPD1_uc010fsm.3_Nonsense_Mutation_p.R32*|HSPD1_uc002uuk.3_Nonsense_Mutation_p.R221*	NM_002156	NP_955472	P10809	CH60_HUMAN	Homo sapiens heat shock 60kDa protein 1 (chaperonin) (HSPD1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	221					'de novo' protein folding|B cell cytokine production|B cell proliferation|MyD88-dependent toll-like receptor signaling pathway|T cell activation|activation of caspase activity|chaperone-mediated protein complex assembly|interspecies interaction between organisms|isotype switching to IgG isotypes|negative regulation of apoptosis|positive regulation of T cell activation|positive regulation of T cell mediated immune response to tumor cell|positive regulation of apoptosis|positive regulation of interferon-alpha production|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of macrophage activation|protein maturation|protein refolding|protein stabilization|response to unfolded protein	cell surface|coated pit|coated vesicle|cytosol|early endosome|extracellular space|lipopolysaccharide receptor complex|mitochondrial inner membrane|mitochondrial matrix|stored secretory granule	ATP binding|ATPase activity|DNA replication origin binding|cell surface binding|chaperone binding|lipopolysaccharide binding|p53 binding|single-stranded DNA binding			NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(7)|skin(1)	17			Epithelial(96;0.225)			ATATAGCCTCGATCAAACTTC	0.269000														40			21		0	0	1	0	0
TMEM198	130612	broad.mit.edu	37	2	220412624	220412624	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:220412624C>T	uc002vme.3	+	3	1148	c.563C>T	c.(562-564)gCt>gTt	p.A188V	TMEM198_uc002vmf.3_Missense_Mutation_p.A188V	NM_001005209	NP_001005209	Q66K66	TM198_HUMAN	Homo sapiens transmembrane protein 198 (TMEM198), mRNA.	188	Leu-rich.					integral to membrane				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	16		Renal(207;0.0376)		Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		GCCACTGCCGCTGACTACTTC	0.711000														6			4		0	0	1	0	0
PLXNA2	5362	broad.mit.edu	37	1	208219374	208219374	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:208219374C>T	uc001hgz.3	-	17	4102	c.3344G>A	c.(3343-3345)cGc>cAc	p.R1115H		NM_025179	NP_079455	O75051	PLXA2_HUMAN	Homo sapiens plexin A2 (PLXNA2), mRNA.	1115	IPT/TIG 3.				axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		CTCATCTGGGCGTTCCACAGT	0.493000														62			8		0	0	1	0	0
STOML2	30968	broad.mit.edu	37	9	35101490	35101490	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:35101490C>T	uc003zwi.3	-	5	575	c.512G>A	c.(511-513)cGc>cAc	p.R171H	STOML2_uc011lou.2_Intron	NM_013442	NP_038470	Q9UJZ1	STML2_HUMAN	Homo sapiens stomatin (EPB72)-like 2 (STOML2), mRNA.	171						cytoskeleton	receptor binding	p.R171C(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1)	16			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			ACGGAGGCAGCGGATACCCCA	0.567000														88			51		0	0	1	0	0
ALPK2	115701	broad.mit.edu	37	18	56205160	56205160	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:56205160T>C	uc002lhj.4	-	4	2473	c.2259A>G	c.(2257-2259)ccA>ccG	p.P753P	ALPK2_uc002lhk.1_Silent_p.P84P	NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	Homo sapiens alpha-kinase 2 (ALPK2), mRNA.	753							ATP binding|protein serine/threonine kinase activity	p.F753F(1)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						AGAACACACCTGGGGACATAG	0.493000														170			19		0	0	1	0	0
CDHR5	53841	broad.mit.edu	37	11	621608	621608	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:621608C>T	uc001lql.3	-	4	728	c.461G>A	c.(460-462)cGc>cAc	p.R154H	CDHR5_uc001lqj.3_Missense_Mutation_p.R154H|CDHR5_uc009ycd.3_Missense_Mutation_p.R154H|CDHR5_uc001lqk.3_Missense_Mutation_p.R154H|CDHR5_uc009ycc.3_5'UTR|CDHR5_uc001lqm.2_5'UTR|CDHR5_uc009yce.1_Missense_Mutation_p.R123H	NM_021924	NP_068743	Q9HBB8	CDHR5_HUMAN	Homo sapiens cadherin-related family member 5 (CDHR5), transcript variant 1, mRNA.	154	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						GTCCTTGTCGCGGTCCTCAGC	0.637000														47			29		0	0	1	0	0
VIL1	7429	broad.mit.edu	37	2	219292775	219292775	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:219292775G>T	uc002vib.3	+	3	457	c.435G>T	c.(433-435)aaG>aaT	p.K145N	VIL1_uc010zke.2_Intron|VIL1_uc002via.3_Missense_Mutation_p.K145N|VIL1_uc002vic.1_Missense_Mutation_p.K145N	NM_007127	NP_009058	P09327	VILI_HUMAN	Homo sapiens villin 1 (VIL1), mRNA.	145	Core.|LPA/PIP2-binding site 2.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCAAGGGCAAGAGGAACGTGG	0.642000														77			10		9.70103e-10	1.16071e-09	1	1	0
HIBCH	26275	broad.mit.edu	37	2	191116931	191116931	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:191116931A>G	uc002uru.3	-	7	915	c.620T>C	c.(619-621)gTg>gCg	p.V207A	HIBCH_uc002urv.3_Missense_Mutation_p.V207A	NM_014362	NP_055177	Q6NVY1	HIBCH_HUMAN	Homo sapiens 3-hydroxyisobutyryl-CoA hydrolase (HIBCH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	207					branched chain family amino acid catabolic process	mitochondrial matrix	3-hydroxyisobutyryl-CoA hydrolase activity|protein binding			NS(1)|breast(2)|endometrium(1)|large_intestine(1)|lung(5)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	13			OV - Ovarian serous cystadenocarcinoma(117;0.000586)|Epithelial(96;0.0286)|all cancers(119;0.0814)			TGCTCTGTACACATCTCTTCC	0.388000														55			21		0	0	1	0	0
TREML2	79865	broad.mit.edu	37	6	41165904	41165904	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:41165904G>A	uc010jxm.1	-	1	498	c.319C>T	c.(319-321)Cgc>Tgc	p.R107C		NM_024807	NP_079083	Q5T2D2	TRML2_HUMAN	Homo sapiens triggering receptor expressed on myeloid cells-like 2 (TREML2), mRNA.	107	Ig-like V-type.				T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					GAGGTGTTGCGCATGCACCAG	0.627000														38			18		0	0	1	0	0
PPP2R2B	5521	broad.mit.edu	37	5	146070694	146070694	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:146070694C>T	uc011dbv.2	-	5	881	c.618G>A	c.(616-618)ctG>ctA	p.L206L	PPP2R2B_uc010jgm.3_Silent_p.L137L|PPP2R2B_uc003loe.3_Silent_p.L148L|PPP2R2B_uc003log.4_Silent_p.L148L|PPP2R2B_uc003lof.4_Silent_p.L148L|PPP2R2B_uc003loi.4_Silent_p.L151L|PPP2R2B_uc003loh.4_Silent_p.L148L|PPP2R2B_uc003lok.4_Silent_p.L137L|PPP2R2B_uc003loj.4_Silent_p.L128L|PPP2R2B_uc011dbu.2_Silent_p.L154L	NM_181675	NP_858061	Q00005	2ABB_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B, beta (PPP2R2B), transcript variant 3, mRNA.	148					apoptosis|signal transduction	cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CACTCACCCGCAGGGTTGTGA	0.562000														35			23		0	0	1	0	0
CPT1C	126129	broad.mit.edu	37	19	50209545	50209545	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:50209545G>A	uc010eng.3	+	11	1534	c.1218G>A	c.(1216-1218)gaG>gaA	p.E406E	CPT1C_uc002ppl.4_Silent_p.E372E|CPT1C_uc002ppi.3_Silent_p.E323E|CPT1C_uc002ppk.3_Silent_p.E395E|CPT1C_uc010enh.3_Silent_p.E406E|CPT1C_uc002ppj.3_Silent_p.E406E|CPT1C_uc010ybc.1_Silent_p.E277E|CPT1C_uc010eni.1_Silent_p.E63E	NM_001199753	NP_001186682	Q8TCG5	CPT1C_HUMAN	Homo sapiens carnitine palmitoyltransferase 1C (CPT1C), transcript variant 4, mRNA.	406					fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		AGGCCCTGGAGGCGGTGGAAG	0.697000														11			3		0	0	1	0	0
STOX1	219736	broad.mit.edu	37	10	70652425	70652425	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:70652425G>A	uc001jos.2	+	3	2990	c.2903G>A	c.(2902-2904)gGc>gAc	p.G968D	STOX1_uc001joq.3_Missense_Mutation_p.G858D|STOX1_uc001jor.3_3'UTR|STOX1_uc009xpy.3_3'UTR|STOX1_uc021prw.1_Missense_Mutation_p.G858D	NM_001130161	NP_689922	Q6ZVD7	STOX1_HUMAN	Homo sapiens storkhead box 1 (STOX1), transcript variant 2, mRNA.	968						cytoplasm|nucleolus	DNA binding			breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						AATGTCGAAGGCACAAAGAGC	0.333000														47			30		0	0	1	0	0
PI4KA	5297	broad.mit.edu	37	22	21107203	21107203	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:21107203C>A	uc002zsz.4	-	24	3062	c.2801G>T	c.(2800-2802)gGt>gTt	p.G934V		NM_058004	NP_477352	P42356	PI4KA_HUMAN	Homo sapiens phosphatidylinositol 4-kinase, catalytic, alpha (PI4KA), transcript variant 1, mRNA.	934					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			ATCCACCAGACCAGATAGATA	0.423000														136			85		2.16659e-41	2.88057e-41	1	1	0
MTHFD1	4522	broad.mit.edu	37	14	64920513	64920513	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:64920513C>T	uc001xhb.3	+	24	2886	c.2499C>T	c.(2497-2499)atC>atT	p.I833I	MTHFD1_uc010aqf.3_Silent_p.I889I|ZBTB25_uc001xhc.3_Intron	NM_005956	NP_005947	P11586	C1TC_HUMAN	Homo sapiens methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase (MTHFD1), mRNA.	833	Formyltetrahydrofolate synthetase.				folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process	cytosol|mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase|methylenetetrahydrofolate dehydrogenase (NADP+) activity|protein binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30				OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	NADH(DB00157)|Tetrahydrofolic acid(DB00116)	CACAGAAGATCTATGGAGCAG	0.428000														39			7		0	0	1	0	0
TCEB3	6924	broad.mit.edu	37	1	24078310	24078310	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:24078310G>A	uc001bho.3	+	3	1353	c.1293G>A	c.(1291-1293)atG>atA	p.M431I		NM_003198	NP_003189	Q14241	ELOA1_HUMAN	Homo sapiens transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A) (TCEB3), mRNA.	431					positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|viral reproduction	integral to membrane	DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		AGCCAACCATGTCTTTTGAAT	0.428000											OREG0013232	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		161			96		0	0	1	0	0
THTPA	79178	broad.mit.edu	37	14	24026141	24026141	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:24026141G>T	uc001wkh.4	+	1	545	c.175G>T	c.(175-177)Gat>Tat	p.D59Y	THTPA_uc001wkb.4_Intron|THTPA_uc001wkg.4_Missense_Mutation_p.D59Y|THTPA_uc010akr.3_Intron	NM_001126339	NP_077304	Q9BU02	THTPA_HUMAN	Homo sapiens thiamine triphosphatase (THTPA), transcript variant 2, mRNA.	59					dephosphorylation|generation of precursor metabolites and energy|thiamine metabolic process	cytosol|nucleolus|soluble fraction	thiamin-triphosphatase activity			large_intestine(1)|prostate(2)	3	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00643)	Thiamine(DB00152)	ACGACGAGAGGATAGTGGATG	0.582000														18			5		5.9392e-07	6.7814e-07	1	1	0
USP9X	8239	broad.mit.edu	37	X	41027339	41027339	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:41027339G>A	uc004dfb.3	+	17	3137	c.2504G>A	c.(2503-2505)gGt>gAt	p.G835D	USP9X_uc004dfc.3_Missense_Mutation_p.G835D	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN	Homo sapiens ubiquitin specific peptidase 9, X-linked (USP9X), transcript variant 3, mRNA.	835					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						GTTTTGGATGGTGACAAAGAC	0.373000														89			45		0	0	1	0	0
SV2B	9899	broad.mit.edu	37	15	91809856	91809856	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:91809856G>T	uc002bqv.3	+	7	1944	c.1053G>T	c.(1051-1053)gaG>gaT	p.E351D	SV2B_uc002bqt.3_Missense_Mutation_p.E351D|SV2B_uc002bqu.4_Non-coding_Transcript|SV2B_uc010uqv.2_Missense_Mutation_p.E200D	NM_014848	NP_055663	Q7L1I2	SV2B_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2B (SV2B), transcript variant 1, mRNA.	351					neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			AATTCATTGAGATCCAAAGTT	0.408000														63			7		7.48243e-07	8.52591e-07	1	1	0
SLC4A11	83959	broad.mit.edu	37	20	3209033	3209033	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:3209033C>A	uc010zqe.2	-	18	2684	c.2559G>T	c.(2557-2559)caG>caT	p.Q853H	SLC4A11_uc002wig.3_Missense_Mutation_p.Q826H|SLC4A11_uc002wih.3_Non-coding_Transcript|SLC4A11_uc010zqf.2_Missense_Mutation_p.Q810H	NM_001174090	NP_001167561	Q8NBS3	S4A11_HUMAN	Homo sapiens solute carrier family 4, sodium borate transporter, member 11 (SLC4A11), transcript variant 1, mRNA.	826	Membrane (bicarbonate transporter).				cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						GGATCTTCCTCTGGGGCACCC	0.642000														93			6		0.0215528	0.0220531	1	1	0
GNPTG	84572	broad.mit.edu	37	16	1412896	1412896	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:1412896C>T	uc002clm.3	+	9	879	c.812C>T	c.(811-813)aCg>aTg	p.T271M		NM_032520	NP_115909	Q9UJJ9	GNPTG_HUMAN	Homo sapiens N-acetylglucosamine-1-phosphate transferase, gamma subunit (GNPTG), mRNA.	271						Golgi apparatus|extracellular region	protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	7		Hepatocellular(780;0.0893)				ATCCCCTACACGAGGCCCACA	0.552000														43			32		0	0	1	0	0
MYT1L	23040	broad.mit.edu	37	2	1914072	1914072	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:1914072T>C	uc002qxe.3	-	12	2584	c.1757A>G	c.(1756-1758)cAg>cGg	p.Q586R	MYT1L_uc002qxd.3_Missense_Mutation_p.Q584R|MYT1L_uc010ewl.2_Non-coding_Transcript	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	Homo sapiens myelin transcription factor 1-like (MYT1L), mRNA.	586					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		GTGCTTTTCCTGTGCCTTGGC	0.592000														23			7		0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2774794	2774794	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:2774794G>A	uc009zdu.1	+	37	4903	c.4590G>A	c.(4588-4590)ctG>ctA	p.L1530L	CACNA1C_uc001qkc.2_Silent_p.L1482L|CACNA1C_uc001qjz.2_Silent_p.L1482L|CACNA1C_uc001qkd.2_Silent_p.L1482L|CACNA1C_uc001qke.2_Silent_p.L1471L|CACNA1C_uc001qkf.2_Silent_p.L1471L|CACNA1C_uc009zdw.1_Silent_p.L1504L|CACNA1C_uc001qkg.2_Silent_p.L1469L|CACNA1C_uc001qkh.2_Silent_p.L1471L|CACNA1C_uc001qkl.2_Silent_p.L1530L|CACNA1C_uc001qkj.2_Silent_p.L1482L|CACNA1C_uc001qkk.2_Silent_p.L1482L|CACNA1C_uc001qkn.2_Silent_p.L1482L|CACNA1C_uc001qkm.2_Silent_p.L1471L|CACNA1C_uc001qko.2_Silent_p.L1502L|CACNA1C_uc001qkp.2_Silent_p.L1482L|CACNA1C_uc001qkq.2_Silent_p.L1510L|CACNA1C_uc001qku.2_Silent_p.L1482L|CACNA1C_uc001qkr.2_Silent_p.L1499L|CACNA1C_uc001qks.2_Silent_p.L1482L|CACNA1C_uc001qkt.2_Silent_p.L1482L|CACNA1C_uc009zdv.1_Silent_p.L1479L|CACNA1C_uc001qkb.2_Silent_p.L1482L|CACNA1C_uc001qki.1_Silent_p.L1218L|CACNA1C_uc010sea.1_Silent_p.L173L	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	1530	Dihydropyridine binding (By similarity).|Phenylalkylamine binding (By similarity).				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	TTGACTACCTGACAAGGGACT	0.488000														27			17		0	0	1	0	0
CLK3	1198	broad.mit.edu	37	15	74911560	74911560	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:74911560G>A	uc010uln.2	+	1	928	c.467G>A	c.(466-468)cGc>cAc	p.R156H	CLK3_uc002ayg.4_Missense_Mutation_p.R8H|CLK3_uc002ayh.4_5'UTR|CLK3_uc010ulm.1_Missense_Mutation_p.R156H|CLK3_uc002ayj.4_Missense_Mutation_p.R8H|CLK3_uc002ayk.4_5'UTR	NM_001130028	NP_003983	P49761	CLK3_HUMAN	Homo sapiens CDC-like kinase 3 (CLK3), transcript variant 1, mRNA.	156						acrosomal vesicle|nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)|stomach(2)|urinary_tract(1)	15						AAGCGATACCGCTCCCCTGAA	0.607000														78			51		0	0	1	0	0
KDM5B	10765	broad.mit.edu	37	1	202727577	202727577	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:202727577C>T	uc009xag.3	-	9	1363	c.1247G>A	c.(1246-1248)cGt>cAt	p.R416H	KDM5B_uc001gyf.3_Missense_Mutation_p.R380H|KDM5B_uc001gyg.1_Missense_Mutation_p.R222H	NM_006618	NP_006609	Q9UGL1	KDM5B_HUMAN	Homo sapiens lysine (K)-specific demethylase 5B (KDM5B), mRNA.	380					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						CCCAAAAGTACGGAGGGTATA	0.383000														42			23		0	0	1	0	0
PLCE1	51196	broad.mit.edu	37	10	95791321	95791321	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:95791321T>C	uc001kjk.3	+	1	1152	c.518T>C	c.(517-519)aTa>aCa	p.I173T	PLCE1_uc010qnx.2_Missense_Mutation_p.I173T	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	Homo sapiens phospholipase C, epsilon 1 (PLCE1), transcript variant 1, mRNA.	173					Ras protein signal transduction|activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of cell growth|regulation of smooth muscle contraction	Golgi membrane|cytosol|membrane fraction|plasma membrane	Ras GTPase binding|calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				TCAGTGATCATAGAGACAGGC	0.433000														70			21		0	0	1	0	0
CATSPER1	117144	broad.mit.edu	37	11	65793574	65793574	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:65793574G>A	uc001ogt.3	-	0	415	c.277C>T	c.(277-279)Ccc>Tcc	p.P93S		NM_053054	NP_444282	Q8NEC5	CTSR1_HUMAN	Homo sapiens cation channel, sperm associated 1 (CATSPER1), mRNA.	93	His-rich.				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						AAGCCTGTGGGGCCATGGGCT	0.617000														132			11		0	0	1	0	0
KLHL35	283212	broad.mit.edu	37	11	75139543	75139543	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:75139543C>T	uc001owm.2	-	1	1010	c.1010G>A	c.(1009-1011)gGc>gAc	p.G337D		NM_001039548	NP_001034637	Q6PF15	KLH35_HUMAN	Homo sapiens kelch-like 35 (Drosophila) (KLHL35), mRNA.	117										lung(2)|stomach(1)	3						GCGAGTGTAGCCGGGCAGGCT	0.642000														36			14		0	0	1	0	0
KLHL34	257240	broad.mit.edu	37	X	21675840	21675840	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:21675840G>A	uc004czz.1	-	0	609	c.67C>T	c.(67-69)Cgc>Tgc	p.R23C		NM_153270	NP_695002	Q8N239	KLH34_HUMAN	Homo sapiens kelch-like 34 (Drosophila) (KLHL34), mRNA.	23								p.R23C(2)		cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	26						CCCTCGGCGCGCAGGGCCTGG	0.642000														10			10		0	0	1	0	0
WDR93	56964	broad.mit.edu	37	15	90278765	90278765	+	Missense_Mutation	SNP	T	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:90278765T>A	uc002boj.3	+	13	1690	c.1589T>A	c.(1588-1590)gTc>gAc	p.V530D	WDR93_uc010bnr.3_Missense_Mutation_p.V502D|WDR93_uc010upz.2_Missense_Mutation_p.V247D	NM_020212	NP_064597	Q6P2C0	WDR93_HUMAN	Homo sapiens WD repeat domain 93 (WDR93), mRNA.	530					electron transport chain	mitochondrial inner membrane	oxidoreductase activity, acting on NADH or NADPH			NS(1)|breast(3)|endometrium(2)|kidney(4)|large_intestine(5)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	33	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)			GTGGCCCCAGTCCCAGCCTTA	0.443000														66			6		0	0	1	0	0
GDPD5	81544	broad.mit.edu	37	11	75153512	75153512	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:75153512G>T	uc001owo.4	-	12	1600	c.1063C>A	c.(1063-1065)Ctg>Atg	p.L355M	GDPD5_uc001owp.4_Missense_Mutation_p.L355M|GDPD5_uc001own.4_Missense_Mutation_p.L110M|GDPD5_uc009yuc.3_Missense_Mutation_p.L217M|GDPD5_uc009yud.3_Missense_Mutation_p.L236M	NM_030792	NP_110419	Q8WTR4	GDPD5_HUMAN	Homo sapiens glycerophosphodiester phosphodiesterase domain containing 5 (GDPD5), mRNA.	355	GDPD.				glycerol metabolic process|lipid metabolic process|nervous system development	endomembrane system|growth cone|integral to membrane|perinuclear region of cytoplasm	glycerophosphodiester phosphodiesterase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|skin(2)	20						TTGAGCAGCAGTGTGGCATTG	0.647000														20			7		5.18039e-06	5.80246e-06	1	1	0
G6PC	2538	broad.mit.edu	37	17	41063057	41063057	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:41063057C>A	uc002icb.1	+	4	767	c.688C>A	c.(688-690)Ctg>Atg	p.L230M	G6PC_uc010whf.1_3'UTR	NM_000151	NP_000142	P35575	G6PC_HUMAN	Homo sapiens glucose-6-phosphatase, catalytic subunit (G6PC), mRNA.	230					gluconeogenesis|glucose homeostasis|transmembrane transport	integral to endoplasmic reticulum membrane	glucose-6-phosphatase activity|phosphate binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.113)		GCTCAAGGGACTGGGTGTAGA	0.512000														44			18		5.03518e-11	6.129e-11	1	1	0
TPH1	7166	broad.mit.edu	37	11	18054868	18054868	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:18054868C>T	uc001mnp.2	-	2	381	c.355G>A	c.(355-357)Gcc>Acc	p.A119T	TPH1_uc009yhe.2_Non-coding_Transcript	NM_004179	NP_004170	P17752	TPH1_HUMAN	Homo sapiens tryptophan hydroxylase 1 (TPH1), mRNA.	119					aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(14)|prostate(1)|stomach(1)	25					L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)	ACTCTGTTGGCACAATGGTCC	0.358000														153			68		0	0	1	0	0
TRAPPC6B	122553	broad.mit.edu	37	14	39621037	39621037	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:39621037C>T	uc001wut.1	-	4	693	c.358G>A	c.(358-360)Gca>Aca	p.A120T	TRAPPC6B_uc001wuu.1_Missense_Mutation_p.A92T|TRAPPC6B_uc001wuv.1_Non-coding_Transcript|TRAPPC6B_uc010tqd.1_Missense_Mutation_p.A58T	NM_001079537	NP_001073005	Q86SZ2	TPC6B_HUMAN	Homo sapiens trafficking protein particle complex 6B (TRAPPC6B), transcript variant 1, mRNA.	120					vesicle-mediated transport	Golgi apparatus|endoplasmic reticulum	guanylate cyclase activity|heme binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0128)		CACGTAAATGCTAAATACTAA	0.294000														38			16		0	0	1	0	0
MCM4	4173	broad.mit.edu	37	8	48885589	48885589	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:48885589C>T	uc003xqk.2	+	13	2927	c.2101C>T	c.(2101-2103)Cgg>Tgg	p.R701W	MCM4_uc003xql.2_Missense_Mutation_p.R701W|MCM4_uc011ldi.2_Missense_Mutation_p.R688W	NM_182746	NP_877423	P33991	MCM4_HUMAN	Homo sapiens minichromosome maintenance complex component 4 (MCM4), transcript variant 2, mRNA.	701					DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				CATCATGCCGCGGCTAAGTGA	0.552000														13			12		0	0	1	0	0
PELI3	246330	broad.mit.edu	37	11	66235654	66235654	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:66235654C>T	uc001oic.4	+	1	219	c.55C>T	c.(55-57)Cac>Tac	p.H19Y	PELI3_uc021qlx.1_Missense_Mutation_p.H19Y|PELI3_uc001oib.2_Missense_Mutation_p.H19Y|PELI3_uc001oid.4_Missense_Mutation_p.H19Y|PELI3_uc021qly.1_Intron	NM_145065	NP_001230065	Q8N2H9	PELI3_HUMAN	Homo sapiens pellino homolog 3 (Drosophila) (PELI3), transcript variant 1, mRNA.	19						cytosol	protein binding			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	15						AGACCTCCAGCACCGGGGGAA	0.597000														50			10		0	0	1	0	0
PBRM1	55193	broad.mit.edu	37	3	52643916	52643916	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52643916C>A	uc003des.2	-	15	1992	c.1980G>T	c.(1978-1980)caG>caT	p.Q660H	PBRM1_uc003dex.2_Non-coding_Transcript|PBRM1_uc003deq.2_Missense_Mutation_p.Q660H|PBRM1_uc003der.2_Missense_Mutation_p.Q628H|PBRM1_uc003det.2_Missense_Mutation_p.Q675H|PBRM1_uc003deu.2_Missense_Mutation_p.Q675H|PBRM1_uc003dev.2_Non-coding_Transcript|PBRM1_uc003dew.2_Missense_Mutation_p.Q660H|PBRM1_uc010hmk.1_Missense_Mutation_p.Q660H|PBRM1_uc003dey.2_Missense_Mutation_p.Q660H|PBRM1_uc003dez.1_Missense_Mutation_p.Q660H|PBRM1_uc003dfb.1_Missense_Mutation_p.Q573H|PBRM1_uc003dfa.1_Missense_Mutation_p.Q6H|PBRM1_uc003dfc.3_Missense_Mutation_p.Q27H	NM_181042	NP_060635	Q86U86	PB1_HUMAN	Homo sapiens polybromo 1 (PBRM1), transcript variant 4, mRNA.	660					chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	DNA binding|chromatin binding|protein binding			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		CATTTAGTTTCTGCTGCATTG	0.378000			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""									117			49		2.72333e-11	3.32317e-11	1	1	0
MTCH1	23787	broad.mit.edu	37	6	36949365	36949365	+	Splice_Site	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:36949365G>A	uc003one.4	-	2	406	c.406_splice	c.e2+1	p.A136_splice	MTCH1_uc003onc.1_Splice_Site_p.A136_splice|MTCH1_uc010jwo.1_Splice_Site|MTCH1_uc003ond.1_Splice_Site_p.A136_splice|MTCH1_uc011dtt.2_Intron	NM_014341	NP_055156	Q9NZJ7	MTCH1_HUMAN	Homo sapiens mitochondrial carrier 1 (MTCH1), nuclear gene encoding mitochondrial protein, mRNA.	136					activation of caspase activity|neuronal ion channel clustering|positive regulation of apoptosis|regulation of signal transduction|transport	integral to membrane|mitochondrial inner membrane	protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	6						CACACTCACCGTAGGTGAAGA	0.592000														14			11		0	0	1	0	0
MRPL21	219927	broad.mit.edu	37	11	68660895	68660895	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:68660895G>A	uc010rqe.1	-	4	450	c.425C>T	c.(424-426)aCg>aTg	p.T142M	MRPL21_uc001ooh.3_Missense_Mutation_p.T57M|MRPL21_uc001ooi.3_Missense_Mutation_p.T142M	NM_181514	NP_852615	Q7Z2W9	RM21_HUMAN	Homo sapiens mitochondrial ribosomal protein L21 (MRPL21), nuclear gene encoding mitochondrial protein, transcript variant 4, mRNA.	142					translation	mitochondrion|ribosome	RNA binding|structural constituent of ribosome	p.T142M(2)		large_intestine(1)|lung(6)|prostate(1)	8			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GCCAAGCAGCGTGAAGTTGTC	0.507000														20			4		0	0	1	0	0
SPEF2	79925	broad.mit.edu	37	5	35641674	35641674	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:35641674C>T	uc003jjo.3	+	2	414	c.303C>T	c.(301-303)taC>taT	p.Y101Y	SPEF2_uc003jjn.1_Silent_p.Y101Y|SPEF2_uc003jjq.4_Silent_p.Y101Y	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA.	101	CH.				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ATCAATTGTACATTGCTCTTC	0.413000														42			33		0	0	1	0	0
YSK4	80122	broad.mit.edu	37	2	135745329	135745329	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:135745329C>T	uc002tue.1	-	6	1144	c.1113G>A	c.(1111-1113)aaG>aaA	p.K371K	YSK4_uc002tuf.1_Intron|YSK4_uc010fnc.1_Intron|YSK4_uc010fnd.1_Silent_p.K258K|YSK4_uc010zbg.1_Intron|YSK4_uc002tuh.4_Silent_p.K99K|YSK4_uc002tui.4_Silent_p.K388K	NM_025052	NP_079328	Q56UN5	YSK4_HUMAN	Homo sapiens YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae) (YSK4), transcript variant 1, mRNA.	371							ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(221;0.112)		AACTCTCATTCTTTCTTGATG	0.383000														43			23		0	0	1	0	0
SLAMF6	114836	broad.mit.edu	37	1	160461053	160461053	+	Nonsense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:160461053C>A	uc001fwe.2	-	2	578	c.508G>T	c.(508-510)Gga>Tga	p.G170*	SLAMF6_uc010pji.2_Nonsense_Mutation_p.G59*|SLAMF6_uc001fwd.2_Nonsense_Mutation_p.G170*|SLAMF6_uc010pjh.2_Nonsense_Mutation_p.G121*|SLAMF6_uc010pjj.2_Nonsense_Mutation_p.G59*|SLAMF6_uc009wtm.2_Nonsense_Mutation_p.G121*	NM_001184714	NP_001171643	Q96DU3	SLAF6_HUMAN	Homo sapiens SLAM family member 6 (SLAMF6), transcript variant 1, mRNA.	170	Ig-like.					integral to membrane|plasma membrane	receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(4)	22	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0923)			AGTGTGTTTCCCAAGGCCTCC	0.483000														87			11		9.31168e-06	1.03939e-05	1	1	0
LNX1	84708	broad.mit.edu	37	4	54374161	54374161	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:54374161C>T	uc003hag.4	-	2	870	c.614G>A	c.(613-615)cGa>cAa	p.R205Q	PDGFRA_uc003haa.3_Intron|LNX1_uc003haf.4_Missense_Mutation_p.R109Q|LNX1_uc003hah.4_Intron	NM_001126328	NP_001119800	Q8TBB1	LNX1_HUMAN	Homo sapiens ligand of numb-protein X 1 (LNX1), transcript variant 1, mRNA.	205						cytoplasm	zinc ion binding	p.R109Q(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4)	32	all_neural(26;0.153)		GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)			ACCCCTAGTTCGGTTGCTCCG	0.552000														19			9		0	0	1	0	0
MRPL15	29088	broad.mit.edu	37	8	55055240	55055240	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:55055240G>A	uc003xsa.2	+	3	510	c.447G>A	c.(445-447)acG>acA	p.T149T		NM_014175	NP_054894	Q9P015	RM15_HUMAN	Homo sapiens mitochondrial ribosomal protein L15 (MRPL15), nuclear gene encoding mitochondrial protein, mRNA.	149					translation	large ribosomal subunit|mitochondrion	structural constituent of ribosome			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)|skin(3)	10		Lung NSC(129;0.109)|all_epithelial(80;0.134)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;4.3e-07)|Epithelial(17;5.79e-05)|all cancers(17;0.000458)			ACACCTTTACGGCAAAAGTTA	0.368000														30			23		0	0	1	0	0
ABCA5	23461	broad.mit.edu	37	17	67286071	67286071	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:67286071T>G	uc002jif.2	-	11	2932	c.1714A>C	c.(1714-1716)Aca>Cca	p.T572P	ABCA5_uc002jid.2_5'Flank|ABCA5_uc002jie.2_Non-coding_Transcript|ABCA5_uc002jig.2_Missense_Mutation_p.T572P|ABCA5_uc002jih.2_Missense_Mutation_p.T572P|ABCA5_uc010dfe.2_Missense_Mutation_p.T572P	NM_018672	NP_758424	Q8WWZ7	ABCA5_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 5 (ABCA5), transcript variant 1, mRNA.	572	ABC transporter 1.				cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)					TCTTCTACTGTCAAAACATCA	0.299000														41			19		0	0	1	0	0
RASSF5	83593	broad.mit.edu	37	1	206760238	206760238	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:206760238G>A	uc001hed.3	+	5	1242	c.1185G>A	c.(1183-1185)gtG>gtA	p.V395V	RASSF5_uc001hec.1_3'UTR|RASSF5_uc001hee.3_3'UTR|RASSF5_uc001hef.3_Silent_p.V242V|RASSF5_uc001heg.1_3'UTR|RASSF5_uc021pie.1_5'Flank	NM_182663	NP_872604	Q8WWW0	RASF5_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) domain family member 5 (RASSF5), transcript variant 1, mRNA.	395	SARAH.				apoptosis|intracellular signal transduction	cytoplasm|microtubule	metal ion binding|protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	8	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			TCCAACAAGTGCAAAAGAAGT	0.502000														56			42		0	0	1	0	0
SLC9A4	389015	broad.mit.edu	37	2	103095459	103095459	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:103095459C>A	uc002tbz.4	+	1	875	c.418C>A	c.(418-420)Ctg>Atg	p.L140M		NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 4 (SLC9A4), mRNA.	140					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						ACCCATCGTTCTGGAGGGCGG	0.612000														46			8		0.010729	0.011087	1	1	0
CHD6	84181	broad.mit.edu	37	20	40141510	40141510	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:40141510G>A	uc002xka.1	-	4	1005	c.827C>T	c.(826-828)gCc>gTc	p.A276V	CHD6_uc002xkd.2_Missense_Mutation_p.A254V|CHD6_uc002xkc.3_Missense_Mutation_p.A311V	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 6 (CHD6), mRNA.	276					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|chromatin binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				CAGTGTAGAGGCTGAGAGTGC	0.502000														129			67		0	0	1	0	0
ATP6V1E2	90423	broad.mit.edu	37	2	46739757	46739757	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:46739757C>T	uc021vgv.1	-	0	94	c.94G>A	c.(94-96)Gcc>Acc	p.A32T	ATP6V1E2_uc002ruy.3_Missense_Mutation_p.A32T	NM_080653	NP_542384	Q96A05	VATE2_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E2 (ATP6V1E2), mRNA.	32					cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting two-sector ATPase complex, catalytic domain	proton-transporting ATPase activity, rotational mechanism			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)	13		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.151)			TCAGCCTTGGCATCGATTTCC	0.448000														51			39		0	0	1	0	0
LRFN1	57622	broad.mit.edu	37	19	39805018	39805018	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:39805018C>T	uc002okw.2	-	0	959	c.959G>A	c.(958-960)cGc>cAc	p.R320H		NM_020862	NP_065913	Q9P244	LRFN1_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 1 (LRFN1), mRNA.	320	Ig-like.					cell junction|integral to membrane|postsynaptic density|postsynaptic membrane				central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			CGCTCGGCAGCGCAGGCTCAC	0.741000														2			3		0	0	1	0	0
DLGAP1	9229	broad.mit.edu	37	18	3729277	3729277	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:3729277C>T	uc002kmf.3	-	6	1976	c.1449G>A	c.(1447-1449)atG>atA	p.M483I	DLGAP1_uc010wyz.2_Missense_Mutation_p.M483I|DLGAP1_uc010dkn.3_Missense_Mutation_p.M181I|DLGAP1_uc002kme.2_Missense_Mutation_p.M181I|DLGAP1_uc010wyw.2_Missense_Mutation_p.M189I|DLGAP1_uc010wyx.2_Missense_Mutation_p.M195I|DLGAP1_uc010wyy.2_Missense_Mutation_p.M195I|DLGAP1_uc002kmg.3_Missense_Mutation_p.M181I|DLGAP1_uc002kmk.2_Missense_Mutation_p.M483I	NM_004746	NP_004737	O14490	DLGP1_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 1 (DLGAP1), transcript variant 1, mRNA.	483					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				AGCAGCCGGGCATGGGCAGGT	0.652000														22			7		0	0	1	0	0
ADAM18	8749	broad.mit.edu	37	8	39550173	39550173	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:39550173G>A	uc003xni.3	+	16	1931	c.1876G>A	c.(1876-1878)Gcc>Acc	p.A626T	ADAM18_uc010lww.3_Non-coding_Transcript|ADAM18_uc010lwx.3_Missense_Mutation_p.A602T	NM_014237	NP_055052	Q9Y3Q7	ADA18_HUMAN	Homo sapiens ADAM metallopeptidase domain 18 (ADAM18), transcript variant 1, mRNA.	626	EGF-like.				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			TAACTGTAATGCCACCACAAA	0.303000														35			23		0	0	1	0	0
C9orf3	84909	broad.mit.edu	37	9	97522193	97522193	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:97522193T>C	uc004ava.3	+	0	263	c.128T>C	c.(127-129)aTa>aCa	p.I43T	C9orf3_uc011lui.2_Non-coding_Transcript|C9orf3_uc004aux.2_Missense_Mutation_p.I43T|C9orf3_uc004auy.3_Missense_Mutation_p.I43T|C9orf3_uc004auz.1_Missense_Mutation_p.I43T	NM_001193329	NP_001180258	Q8N6M6	AMPO_HUMAN	Homo sapiens chromosome 9 open reading frame 3 (C9orf3), transcript variant 1, mRNA.	43					leukotriene biosynthetic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|zinc ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(323;0.000275)		GAGGGGACCATAGTGCTTTTC	0.443000														58			8		0	0	1	0	0
MYO15A	51168	broad.mit.edu	37	17	18060286	18060286	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:18060286G>A	uc021trm.1	+	47	8839	c.8620G>A	c.(8620-8622)Gct>Act	p.A2874T	MYO15A_uc021trl.1_Missense_Mutation_p.A2872T|MYO15A_uc010vxi.2_Missense_Mutation_p.A138T|MYO15A_uc010vxj.1_Missense_Mutation_p.A73T|MYO15A_uc010vxk.1_Intron|MYO15A_uc010vxl.1_5'Flank|MYO15A_uc002gsl.3_5'Flank|MYO15A_uc010vxm.2_5'Flank	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	Homo sapiens myosin XVA (MYO15A), mRNA.	2874	SH3.|Tail.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	ATP binding|actin binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CTACGTGGTCGCTGTGAGGAA	0.622000														45			4		0	0	1	0	0
ZNF839	55778	broad.mit.edu	37	14	102805268	102805268	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:102805268G>A	uc010awk.1	+	5	1782	c.1775G>A	c.(1774-1776)aGc>aAc	p.S592N	ZNF839_uc001ylo.2_Missense_Mutation_p.S476N|ZNF839_uc001ylp.2_Non-coding_Transcript|ZNF839_uc001ylq.1_Missense_Mutation_p.S476N|ZNF839_uc001ylr.2_Missense_Mutation_p.S401N|ZNF839_uc001yls.2_Missense_Mutation_p.S91N|ZNF839_uc001ylt.2_Missense_Mutation_p.S66N	NM_018335	NP_060805	A8K0R7	ZN839_HUMAN	Homo sapiens zinc finger protein 839 (ZNF839), mRNA.	476						intracellular	zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						GAGGGAGCTAGCAGCGAGAAG	0.547000														29			3		0	0	1	0	0
SMARCAD1	56916	broad.mit.edu	37	4	95147396	95147396	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:95147396G>A	uc003htb.4	+	2	494	c.317G>A	c.(316-318)tGc>tAc	p.C106Y	SMARCAD1_uc003htc.4_Missense_Mutation_p.C106Y|SMARCAD1_uc003htd.4_Missense_Mutation_p.C106Y|SMARCAD1_uc010ila.3_5'UTR	NM_001128430	NP_001121902	Q9H4L7	SMRCD_HUMAN	Homo sapiens SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1 (SMARCAD1), transcript variant 2, mRNA.	106					chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		TCCCCAAATTGCTCCAATACA	0.303000														81			42		0	0	1	0	0
CYP7B1	9420	broad.mit.edu	37	8	65528285	65528285	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:65528285C>A	uc003xvj.2	-	2	1017	c.813G>T	c.(811-813)ctG>ctT	p.L271L		NM_004820	NP_004811	O75881	CP7B1_HUMAN	Homo sapiens cytochrome P450, family 7, subfamily B, polypeptide 1 (CYP7B1), mRNA.	271					bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				AATATTTCTCCAGGACATCTT	0.353000														196			15		1.02788e-11	1.25893e-11	1	1	0
MAST4	375449	broad.mit.edu	37	5	66430419	66430419	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:66430419C>T	uc021xzk.1	+	17	2603	c.2295C>T	c.(2293-2295)gaC>gaT	p.D765D	MAST4_uc003jut.2_Silent_p.D576D|MAST4_uc003juu.1_Silent_p.D586D|MAST4_uc011cra.1_Silent_p.D559D|MAST4_uc003juv.2_Silent_p.D571D|MAST4_uc003juw.3_Silent_p.D571D	NM_001164664	NP_001158136	O15021	MAST4_HUMAN	Homo sapiens microtubule associated serine/threonine kinase family member 4 (MAST4), transcript variant 3, mRNA.	768	Protein kinase.					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		AGCCGGTGGACTGGTGGGCCA	0.453000														95			11		0	0	1	0	0
HECTD2	143279	broad.mit.edu	37	10	93260993	93260993	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:93260993G>T	uc010qnm.1	+	20	2224	c.2124G>T	c.(2122-2124)aaG>aaT	p.K708N	LOC100188947_uc010qnl.2_Intron|HECTD2_uc001khl.2_Missense_Mutation_p.K704N|HECTD2_uc001khm.2_Non-coding_Transcript|HECTD2_uc009xty.1_Missense_Mutation_p.K293N|HECTD2_uc001khn.1_Missense_Mutation_p.K354N	NM_182765	NP_877497	Q5U5R9	HECD2_HUMAN	Homo sapiens HECT domain containing 2 (HECTD2), transcript variant 1, mRNA.	704	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						ATCTTCAAAAGAAGTTGCTAC	0.348000														52			30		1.2476e-16	1.58296e-16	1	1	0
PYGB	5834	broad.mit.edu	37	20	25261668	25261668	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:25261668C>T	uc002wup.3	+	10	1432	c.1323C>T	c.(1321-1323)aaC>aaT	p.N441N		NM_002862	NP_002853	P11216	PYGB_HUMAN	Homo sapiens phosphorylase, glycogen; brain (PYGB), mRNA.	441					glucose metabolic process|glycogen catabolic process	cytoplasm	glycogen phosphorylase activity|pyridoxal phosphate binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31					Pyridoxal Phosphate(DB00114)	AGCGGATCAACATGGCCCACC	0.617000														106			9		0	0	1	0	0
CASC3	22794	broad.mit.edu	37	17	38318393	38318393	+	Nonsense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:38318393G>T	uc010cwt.1	+	4	890	c.595G>T	c.(595-597)Gag>Tag	p.E199*	CASC3_uc010cws.1_Nonsense_Mutation_p.E199*|CASC3_uc002hue.3_Nonsense_Mutation_p.E199*	NM_007359	NP_031385	O15234	CASC3_HUMAN	Homo sapiens cancer susceptibility candidate 3 (CASC3), mRNA.	199	Necessary for RNA-binding, interaction with MAGOH and localization in nucleus speckles.|Sufficient to form the EJC.				RNA splicing|mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	RNA binding|identical protein binding|ubiquitin protein ligase binding			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	16						GCAAACTCAGGAGGAGGAAGT	0.448000														50			5		3.59834e-05	3.95114e-05	1	1	0
ARHGAP24	83478	broad.mit.edu	37	4	86921845	86921845	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:86921845C>T	uc003hpk.3	+	9	2666	c.2217C>T	c.(2215-2217)acC>acT	p.T739T	ARHGAP24_uc003hpl.3_Silent_p.T644T|ARHGAP24_uc010ikf.3_Silent_p.T654T|ARHGAP24_uc003hpm.3_Silent_p.T646T	NM_001025616	NP_001036134	Q8N264	RHG24_HUMAN	Homo sapiens Rho GTPase activating protein 24 (ARHGAP24), transcript variant 1, mRNA.	739					angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell projection|cytoskeleton|cytosol|focal adhesion	GTPase activator activity|protein binding			breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		CCAGGAGAACCGAGAGAGGAA	0.473000														18			3		0	0	1	0	0
RPRD2	23248	broad.mit.edu	37	1	150445293	150445293	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:150445293C>T	uc009wlr.3	+	10	4070	c.3869C>T	c.(3868-3870)tCt>tTt	p.S1290F	RPRD2_uc010pcc.1_3'UTR|RPRD2_uc001eup.4_Missense_Mutation_p.S1264F	NM_015203	NP_056018	Q5VT52	RPRD2_HUMAN	Homo sapiens regulation of nuclear pre-mRNA domain containing 2 (RPRD2), mRNA.	1290	Pro-rich.						protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						GTCCCCTTTTCTACTCCACCC	0.622000														26			4		0	0	1	0	0
TOR1AIP1	26092	broad.mit.edu	37	1	179887200	179887200	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:179887200G>T	uc001gnq.3	+	9	1796	c.1578G>T	c.(1576-1578)aaG>aaT	p.K526N		NM_015602	NP_056417	Q5JTV8	TOIP1_HUMAN	Homo sapiens torsin A interacting protein 1 (TOR1AIP1), mRNA.	526						integral to membrane|nuclear inner membrane				breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	18						TAGGCCTAAAGGAAGTTGAAG	0.408000														46			42		4.17593e-13	5.18628e-13	1	1	0
FAM84B	157638	broad.mit.edu	37	8	127569239	127569239	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:127569239G>T	uc022bbc.1	-	0	396	c.396C>A	c.(394-396)caC>caA	p.H132Q	FAM84B_uc003yrz.2_Missense_Mutation_p.H132Q	NM_174911	NP_777571	Q96KN1	FA84B_HUMAN	Homo sapiens family with sequence similarity 84, member B (FAM84B), mRNA.	132						cytoplasm|plasma membrane	protein binding			lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	5	Ovarian(5;9.43e-05)|Esophageal squamous(12;0.0012)|Hepatocellular(40;0.128)|Myeloproliferative disorder(2;0.135)		STAD - Stomach adenocarcinoma(47;0.000556)|Colorectal(2;0.0102)|Lung(2;0.0136)|READ - Rectum adenocarcinoma(2;0.0723)			ATACGGCCCAGTGCGGGTACT	0.647000														13			10		4.68919e-08	5.46558e-08	1	1	0
AHNAK	79026	broad.mit.edu	37	11	62294946	62294946	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:62294946G>A	uc001ntl.3	-	4	7243	c.6943C>T	c.(6943-6945)Cct>Tct	p.P2315S	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	2315					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TCAACATCAGGCATGGAGATC	0.468000														108			46		0	0	1	0	0
MARK1	4139	broad.mit.edu	37	1	220804430	220804430	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:220804430G>A	uc009xdw.3	+	9	1560	c.963G>A	c.(961-963)aaG>aaA	p.K321K	MARK1_uc001hmn.4_Silent_p.K321K|MARK1_uc010pun.2_Silent_p.K321K|MARK1_uc001hmm.4_Silent_p.K299K	NM_018650	NP_061120	Q9P0L2	MARK1_HUMAN	Homo sapiens MAP/microtubule affinity-regulating kinase 1 (MARK1), mRNA.	321					intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		AAGAACTAAAGCCATATACTG	0.378000														59			25		0	0	1	0	0
PHF3	23469	broad.mit.edu	37	6	64401711	64401711	+	Silent	SNP	C	T	T	rs137872439		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:64401711C>T	uc003pep.1	+	3	2299	c.2274C>T	c.(2272-2274)ggC>ggT	p.G758G	PHF3_uc010kaf.1_Silent_p.G758G|PHF3_uc003pem.2_Silent_p.G711G|PHF3_uc010kag.1_Silent_p.G670G|PHF3_uc010kah.1_Silent_p.G572G|PHF3_uc003pen.2_Silent_p.G670G|PHF3_uc011dxs.1_Silent_p.G27G	NM_015153	NP_055968	Q92576	PHF3_HUMAN	Homo sapiens PHD finger protein 3 (PHF3), mRNA.	758					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding	p.G758G(4)		breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			AGCAGATGGGCGAGGAAGACA	0.413000														96			57		0	0	1	0	0
CDC20	991	broad.mit.edu	37	1	43824890	43824890	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:43824890G>A	uc001cix.3	+	1	105	c.4G>A	c.(4-6)Gca>Aca	p.A2T	CDC20_uc001ciy.3_Missense_Mutation_p.A2T	NM_001255	NP_001246	Q12834	CDC20_HUMAN	Homo sapiens cell division cycle 20 homolog (S. cerevisiae) (CDC20), mRNA.	2					activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle	cytosol|nucleoplasm|spindle	enzyme binding|protein C-terminus binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CGCTCCCATGGCACAGTTCGC	0.652000														46			30		0	0	1	0	0
MYT1L	23040	broad.mit.edu	37	2	1891356	1891356	+	Missense_Mutation	SNP	T	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:1891356T>A	uc002qxe.3	-	16	3373	c.2546A>T	c.(2545-2547)gAg>gTg	p.E849V	MYT1L_uc002qxd.3_Missense_Mutation_p.E847V|MYT1L_uc010ewl.2_Non-coding_Transcript	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	Homo sapiens myelin transcription factor 1-like (MYT1L), mRNA.	849					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		TTCTAGAGCCTCCTGGAATGG	0.527000														81			30		0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152702469	152702469	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:152702469G>A	uc021zhb.1	-	53	8904	c.8681C>T	c.(8680-8682)gCa>gTa	p.A2894V	SYNE1_uc003qot.4_Missense_Mutation_p.A2901V|SYNE1_uc003qou.4_Missense_Mutation_p.A2894V|SYNE1_uc010kja.2_5'UTR|SYNE1_uc003qov.3_5'UTR|SYNE1_uc010kjb.1_Missense_Mutation_p.A2877V	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	2894					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	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)		GAGACGGCTTGCACCAATCTC	0.517000										HNSCC(10;0.0054)				158			13		0	0	1	0	0
C17orf57	124989	broad.mit.edu	37	17	45425209	45425209	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:45425209C>T	uc002iln.3	+	8	984	c.553C>T	c.(553-555)Cga>Tga	p.R185*	C17orf57_uc002ilm.3_Intron|C17orf57_uc002ill.1_Intron|C17orf57_uc010daz.1_Intron	NM_152347	NP_689560	Q8IY85	CQ057_HUMAN	Homo sapiens chromosome 17 open reading frame 57 (C17orf57), transcript variant A, mRNA.	185							calcium ion binding	p.R185*(2)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(11)|pancreas(1)|skin(5)|stomach(3)	36						TAGTAAAATTCGAAGTGGTAA	0.323000														33			15		0	0	1	0	0
CHCHD8	51287	broad.mit.edu	37	11	73584383	73584383	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:73584383C>T	uc021qne.1	-	0	41	c.41G>A	c.(40-42)cGg>cAg	p.R14Q	CHCHD8_uc001ouj.3_Missense_Mutation_p.R14Q	NM_016565	NP_057649	Q9NYJ1	CHCH8_HUMAN	Homo sapiens coiled-coil-helix-coiled-coil-helix domain containing 8 (CHCHD8), mRNA.	14										lung(2)	2	Breast(11;7.42e-05)					TTTCTTCACCCGTTGGGTCCA	0.547000														53			29		0	0	1	0	0
LRRC18	474354	broad.mit.edu	37	10	50121843	50121843	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:50121843G>A	uc001jhd.3	-	0	438	c.358C>T	c.(358-360)Ctc>Ttc	p.L120F	WDFY4_uc001jha.4_Intron|LRRC18_uc001jhe.1_Missense_Mutation_p.L120F	NM_001006939	NP_001006940	Q8N456	LRC18_HUMAN	Homo sapiens leucine rich repeat containing 18 (LRRC18), mRNA.	120						cytoplasm				NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						ATGTTCTTGAGTTGCTTCAGC	0.607000														22			11		0	0	1	0	0
GJA4	2701	broad.mit.edu	37	1	35260154	35260154	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:35260154C>T	uc009vul.3	+	1	592	c.568C>T	c.(568-570)Cgg>Tgg	p.R190W	GJA4_uc001bya.3_Missense_Mutation_p.R114W|GJA4_uc009vum.1_Missense_Mutation_p.R114W|GJA4_uc021olb.1_Missense_Mutation_p.R114W	NM_002060	NP_002051	P35212	CXA4_HUMAN	Homo sapiens gap junction protein, alpha 4, 37kDa (GJA4), mRNA.	114					cell-cell junction assembly	integral to plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(4)|stomach(1)	14		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				GGGGGAGCTGCGGGCACTGCC	0.652000														19			9		0	0	1	0	0
KRT26	353288	broad.mit.edu	37	17	38922877	38922877	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:38922877G>A	uc002hvf.3	-	7	1343	c.1297C>T	c.(1297-1299)Ctg>Ttg	p.L433L		NM_181539	NP_853517	Q7Z3Y9	K1C26_HUMAN	Homo sapiens keratin 26 (KRT26), mRNA.	433	Tail.					intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(5)	16		Breast(137;0.00526)				ATTTGATCCAGTTCCTCAACC	0.338000														44			26		0	0	1	0	0
MARVELD2	153562	broad.mit.edu	37	5	68715327	68715327	+	Missense_Mutation	SNP	C	T	T	rs145027254		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:68715327C>T	uc003jwq.3	+	1	189	c.115C>T	c.(115-117)Cgg>Tgg	p.R39W	MARVELD2_uc010ixf.3_Missense_Mutation_p.R39W|MARVELD2_uc003jws.1_Non-coding_Transcript	NM_001038603	NP_001033692	Q8N4S9	MALD2_HUMAN	Homo sapiens MARVEL domain containing 2 (MARVELD2), transcript variant 1, mRNA.	39					sensory perception of sound	integral to membrane|tight junction				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(4)|skin(1)|urinary_tract(1)	15		Lung NSC(167;0.000937)|Prostate(74;0.0187)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;7.31e-57)|Epithelial(20;1.05e-52)|all cancers(19;2.63e-48)|Lung(70;0.0183)		TGACAGTGAGCGGGCAGTGAG	0.552000														21			14		0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144940270	144940270	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:144940270C>A	uc003zaa.1	-	0	7165	c.7152G>T	c.(7150-7152)aaG>aaT	p.K2384N		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	2384						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CGAAGAAGCCCTTGGTGTCGT	0.647000														220			19		1.96292e-10	2.36921e-10	1	1	0
MUC16	94025	broad.mit.edu	37	19	9058224	9058224	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9058224G>T	uc002mkp.3	-	2	29426	c.29222C>A	c.(29221-29223)cCt>cAt	p.P9741H		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	9743	Ser-rich.|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						GGAGGACACAGGAGAAAGTGA	0.498000														29			4		1.024e-07	1.18895e-07	1	1	0
TEX10	54881	broad.mit.edu	37	9	103111563	103111563	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:103111563G>A	uc004bas.3	-	1	298	c.83C>T	c.(82-84)gCt>gTt	p.A28V	TEX10_uc011lvf.2_5'Flank|TEX10_uc011lvg.2_Missense_Mutation_p.A31V|TEX10_uc011lvh.1_Intron	NM_017746	NP_060216	Q9NXF1	TEX10_HUMAN	Homo sapiens testis expressed 10 (TEX10), transcript variant 1, mRNA.	28						MLL1 complex|integral to membrane|nuclear membrane|nucleolus	binding			NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	38		Acute lymphoblastic leukemia(62;0.0527)		OV - Ovarian serous cystadenocarcinoma(323;0.157)		TGTAGGAGTAGCATTTTGTAA	0.318000														27			12		0	0	1	0	0
IBTK	25998	broad.mit.edu	37	6	82883084	82883084	+	Splice_Site	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:82883084T>C	uc003pjl.1	-	27	4324	c.3797_splice	c.e27+1	p.N1266_splice	IBTK_uc011dyu.1_Splice_Site_p.N217_splice|IBTK_uc011dyv.1_Splice_Site_p.N1251_splice|IBTK_uc011dyw.1_Splice_Site_p.N1065_splice|IBTK_uc010kbi.1_Splice_Site_p.N960_splice	NM_015525	NP_056340	Q9P2D0	IBTK_HUMAN	Homo sapiens inhibitor of Bruton agammaglobulinemia tyrosine kinase (IBTK), mRNA.	1266					negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity			central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		TTAACCTTACTTGGGACTGTC	0.423000														49			16		0	0	1	0	0
SLMAP	7871	broad.mit.edu	37	3	57894828	57894828	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:57894828C>A	uc003dje.1	+	16	1804	c.1599C>A	c.(1597-1599)gcC>gcA	p.A533A	SLMAP_uc003djd.1_Silent_p.A516A|SLMAP_uc003djf.1_Silent_p.A495A|SLMAP_uc003djg.1_Silent_p.A127A|SLMAP_uc011bez.1_Intron|SLMAP_uc011bfa.1_Silent_p.A67A|SLMAP_uc003djh.3_Silent_p.A26A|SLMAP_uc003dji.1_Silent_p.A67A|SLMAP_uc011bfb.1_Silent_p.A67A|SLMAP_uc011bfc.1_Silent_p.A26A	NM_007159	NP_009090	Q14BN4	SLMAP_HUMAN	Homo sapiens sarcolemma associated protein (SLMAP), mRNA.	533					muscle contraction|protein folding	integral to plasma membrane|microtubule organizing center|prefoldin complex|sarcolemma|smooth endoplasmic reticulum	unfolded protein binding			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(2)	18				BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182)		AAAGAAAAGCCTATCGAAATC	0.333000														76			5		0.184627	0.186034	1	1	0
CHST9	83539	broad.mit.edu	37	18	24497012	24497012	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:24497012G>A	uc002kwd.3	-	4	772	c.543C>T	c.(541-543)ttC>ttT	p.F181F	CHST9-AS1_uc002kwb.2_Intron|CHST9-AS1_uc010xbm.2_Intron|CHST9_uc002kwe.3_Silent_p.F181F|CHST9_uc021uij.1_Silent_p.F96F	NM_001243848	NP_001230777	Q7L1S5	CHST9_HUMAN	Homo sapiens carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9 (CHST9), transcript variant 2, mRNA.	181					carbohydrate biosynthetic process|glycosaminoglycan metabolic process|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|extracellular region|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|skin(3)	28	all_lung(6;0.0145)|Ovarian(20;0.124)					ACTCCTGAAGGAAAGACCTTC	0.373000														88			42		0	0	1	0	0
DNAJC21	134218	broad.mit.edu	37	5	34954715	34954715	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:34954715T>C	uc003jjb.3	+	12	1854	c.1627T>C	c.(1627-1629)Ttt>Ctt	p.F543L	DNAJC21_uc003jjc.3_Missense_Mutation_p.F498L	NM_194283	NP_919259	Q5F1R6	DJC21_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 21 (DNAJC21), transcript variant 1, mRNA.	498					protein folding	ribosome	heat shock protein binding|nucleic acid binding|unfolded protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(31;7.08e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)			GAATAAACTTTTTGACCATCT	0.388000														104			6		0	0	1	0	0
LECT1	11061	broad.mit.edu	37	13	53277790	53277790	+	Silent	SNP	C	T	T	rs78575404	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:53277790C>T	uc001vhf.2	-	6	1056	c.945G>A	c.(943-945)tcG>tcA	p.S315S	LECT1_uc001vhg.2_Silent_p.S314S|LECT1_uc001vhh.2_Silent_p.S304S	NM_007015	NP_008946	O75829	LECT1_HUMAN	Homo sapiens leukocyte cell derived chemotaxin 1 (LECT1), transcript variant 1, mRNA.	315					cartilage development|proteoglycan metabolic process	endomembrane system|extracellular region|integral to membrane				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	15		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.38e-08)		CTCTGCAGGCCGAACGGCAGC	0.493000														41			15		0	0	1	0	0
CAPN5	726	broad.mit.edu	37	11	76826516	76826516	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:76826516G>A	uc009yup.3	+	6	1080	c.895G>A	c.(895-897)Gtg>Atg	p.V299M	CAPN5_uc001oxx.3_Missense_Mutation_p.V259M|CAPN5_uc009yuq.3_Missense_Mutation_p.V295M|CAPN5_uc001oxy.3_Missense_Mutation_p.V299M	NM_004055	NP_004046	O15484	CAN5_HUMAN	Homo sapiens calpain 5 (CAPN5), mRNA.	259	Calpain catalytic.				proteolysis|signal transduction	intracellular	calcium-dependent cysteine-type endopeptidase activity			NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1)	30						CGTCACTGATGTGCGCAAGGT	0.637000														23			15		0	0	1	0	0
FADS2	9415	broad.mit.edu	37	11	61608110	61608110	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:61608110G>T	uc001nsl.1	+	3	681	c.531G>T	c.(529-531)tgG>tgT	p.W177C	FADS2_uc001nsj.2_Missense_Mutation_p.W155C|FADS2_uc010rlo.1_Missense_Mutation_p.W146C|FADS2_uc001nsk.3_Missense_Mutation_p.W177C	NM_004265	NP_004256	O95864	FADS2_HUMAN	Homo sapiens fatty acid desaturase 2 (FADS2), mRNA.	177					electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	heme binding			breast(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20					Alpha-Linolenic Acid(DB00132)	AAGCTGGATGGCTGCAACATG	0.542000														92			51		1.72184e-34	2.28044e-34	1	1	0
GTDC1	79712	broad.mit.edu	37	2	144764824	144764824	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:144764824G>T	uc002tvp.3	-	6	1079	c.800C>A	c.(799-801)aCt>aAt	p.T267N	GTDC1_uc002tvo.3_Missense_Mutation_p.T267N|GTDC1_uc021vqf.1_Missense_Mutation_p.T267N|GTDC1_uc010fnn.3_Missense_Mutation_p.T267N|GTDC1_uc002tvs.3_Missense_Mutation_p.T235N|GTDC1_uc021vqg.1_Intron|GTDC1_uc002tvr.3_Missense_Mutation_p.T267N|GTDC1_uc010fno.3_Missense_Mutation_p.T138N|GTDC1_uc002tvt.2_Missense_Mutation_p.T267N	NM_001006636	NP_001158101	Q4AE62	GTDC1_HUMAN	Homo sapiens glycosyltransferase-like domain containing 1 (GTDC1), transcript variant 1, mRNA.	267					biosynthetic process		transferase activity, transferring glycosyl groups			central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(17)|ovary(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.0914)		GGGATCAACAGTCAGATTTTG	0.398000														50			11		2.68362e-12	3.30521e-12	1	1	0
WWC3	55841	broad.mit.edu	37	X	10096201	10096201	+	Splice_Site	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:10096201G>T	uc004csx.4	+	16	2478	c.2280_splice	c.e16+1	p.T760_splice	WWC3_uc010nds.3_Splice_Site_p.T424_splice|WWC3_uc010ndt.3_Splice_Site	NM_015691	NP_056506	Q9ULE0	WWC3_HUMAN	Homo sapiens WWC family member 3 (WWC3), mRNA.	760										NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						CCGGCAAGACGGTACTTGGCC	0.567000														30			15		3.52763e-06	3.96648e-06	1	1	0
ITIH6	347365	broad.mit.edu	37	X	54784182	54784182	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:54784182A>G	uc004dtj.2	-	7	2355	c.2325T>C	c.(2323-2325)acT>acC	p.T775T		NM_198510	NP_940912	Q6UXX5	ITH5L_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 6 (ITIH6), mRNA.	775	Pro-rich.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity										CACATTTCACAGTGTCAGCTT	0.532000														66			6		0	0	1	0	0
HIVEP3	59269	broad.mit.edu	37	1	42049277	42049277	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:42049277C>T	uc001cgz.4	-	3	2405	c.1192G>A	c.(1192-1194)Gag>Aag	p.E398K	HIVEP3_uc001cha.4_Missense_Mutation_p.E398K|HIVEP3_uc001cgy.3_Non-coding_Transcript	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 3 (HIVEP3), transcript variant 1, mRNA.	398	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).|Ser-rich.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				TCTGCACTCTCGGAGCGAGAG	0.577000														41			24		0	0	1	0	0
ITPR2	3709	broad.mit.edu	37	12	26777268	26777268	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:26777268T>C	uc001rhg.3	-	23	3503	c.3086A>G	c.(3085-3087)gAa>gGa	p.E1029G		NM_002223	NP_002214	Q14571	ITPR2_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 2 (ITPR2), mRNA.	1029					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					AGCTGCAATTTCATCTATATC	0.284000														104			11		0	0	1	0	0
HSPA1L	3305	broad.mit.edu	37	6	31778007	31778007	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31778007C>T	uc003nxh.3	-	1	1926	c.1743G>A	c.(1741-1743)tcG>tcA	p.S581S	HSPA1L_uc010jte.3_Silent_p.S581S|HSPA1L_uc021yuz.1_Silent_p.S581S	NM_005527	NP_005518	P34931	HS71L_HUMAN	Homo sapiens heat shock 70kDa protein 1-like (HSPA1L), mRNA.	581					response to unfolded protein		ATP binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						CCTCCAGCCACGAAAGGAGCT	0.388000														63			42		0	0	1	0	0
QPCT	25797	broad.mit.edu	37	2	37586802	37586802	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:37586802G>T	uc002rqg.3	+	2	469	c.347G>T	c.(346-348)gGg>gTg	p.G116V		NM_012413	NP_036545	Q16769	QPCT_HUMAN	Homo sapiens glutaminyl-peptide cyclotransferase (QPCT), mRNA.	116					peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase|proteolysis	extracellular region	acyltransferase activity|glutaminyl-peptide cyclotransferase activity|peptidase activity|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|stomach(2)	17		Ovarian(717;0.051)|all_hematologic(82;0.21)				ACACCCTATGGGTACCGGTCT	0.463000														35			21		1.50039e-11	1.83529e-11	1	1	0
TRO	7216	broad.mit.edu	37	X	54955239	54955239	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:54955239C>T	uc004dtq.3	+	11	2189	c.2082C>T	c.(2080-2082)ggC>ggT	p.G694G	TRO_uc004dts.3_Intron|TRO_uc004dtr.3_Intron|TRO_uc004dtt.3_Intron|TRO_uc004dtu.3_Intron|TRO_uc004dtv.3_Intron|TRO_uc011mok.2_Silent_p.G225G|TRO_uc004dtw.3_Silent_p.G297G|TRO_uc004dtx.3_Silent_p.G77G	NM_001039705	NP_001034794	Q12816	TROP_HUMAN	Homo sapiens trophinin (TRO), transcript variant 6, mRNA.	694					embryo implantation|homophilic cell adhesion	integral to plasma membrane				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						AAGAGTTAGGCGATGATGCTC	0.517000														13			8		0	0	1	0	0
ATR	545	broad.mit.edu	37	3	142226890	142226890	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:142226890C>A	uc003eux.4	-	27	5036	c.4914G>T	c.(4912-4914)caG>caT	p.Q1638H		NM_001184	NP_001175	Q13535	ATR_HUMAN	Homo sapiens ataxia telangiectasia and Rad3 related (ATR), mRNA.	1638					DNA damage checkpoint|DNA repair|DNA replication|cell cycle|cellular response to UV|cellular response to gamma radiation|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						CCAGAGTATCCTGGGGTATGA	0.363000								Other conserved DNA damage response genes						63			6		0.000157383	0.000170012	1	1	0
DDHD2	23259	broad.mit.edu	37	8	38099780	38099780	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:38099780G>A	uc003xlc.3	+	6	925	c.725G>A	c.(724-726)cGc>cAc	p.R242H	DDHD2_uc003xlb.3_Missense_Mutation_p.R242H|DDHD2_uc011lbl.1_Missense_Mutation_p.R54H	NM_001164232	NP_056029	O94830	DDHD2_HUMAN	Homo sapiens DDHD domain containing 2 (DDHD2), transcript variant 2, mRNA.	242					lipid catabolic process	centrosome	hydrolase activity|metal ion binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)|urinary_tract(2)	28	Colorectal(12;0.000442)	all_lung(54;0.0657)|Lung NSC(58;0.175)	BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977)			AATGATTTTCGCAGTGTTTCC	0.358000														29			16		0	0	1	0	0
PRSS3	5646	broad.mit.edu	37	9	33797979	33797979	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:33797979T>C	uc003ztj.4	+	2	575	c.524T>C	c.(523-525)gTc>gCc	p.V175A	PRSS3_uc003zti.4_Missense_Mutation_p.V132A|PRSS3_uc022bfu.1_Missense_Mutation_p.V111A|PRSS3_uc003ztl.4_Missense_Mutation_p.V118A	NM_007343	NP_031369	P35030	TRY3_HUMAN	Homo sapiens protease, serine, 3 (PRSS3), transcript variant 1, mRNA.	175	Peptidase S1.				digestion|endothelial cell migration|zymogen activation	extracellular space	calcium ion binding|protein binding|serine-type endopeptidase activity|serine-type peptidase activity			large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	13			LUSC - Lung squamous cell carcinoma(29;0.0176)			TCACCTGCCGTCATCAATGCC	0.562000														33			21		0	0	1	0	0
DIP2A	23181	broad.mit.edu	37	21	47929264	47929264	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:47929264G>T	uc002zjo.2	+	6	1062	c.879G>T	c.(877-879)gtG>gtT	p.V293V	DIP2A_uc011afy.1_Silent_p.V229V|DIP2A_uc011afz.1_Silent_p.V293V|DIP2A_uc002zjl.3_Silent_p.V293V|DIP2A_uc002zjm.3_Silent_p.V293V|DIP2A_uc010gql.3_Silent_p.V250V|DIP2A_uc002zjn.3_Silent_p.V293V|DIP2A_uc002zjp.1_Silent_p.V38V	NM_015151	NP_055966	Q14689	DIP2A_HUMAN	Homo sapiens DIP2 disco-interacting protein 2 homolog A (Drosophila) (DIP2A), transcript variant 1, mRNA.	293					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		AGTTCTTTGTGGATGATTTTG	0.468000														67			22		6.21321e-17	7.89382e-17	1	1	0
SYNE2	23224	broad.mit.edu	37	14	64630256	64630256	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:64630256C>T	uc001xgl.3	+	88	16666	c.16436C>T	c.(16435-16437)gCt>gTt	p.A5479V	SYNE2_uc001xgm.3_Missense_Mutation_p.A5479V|SYNE2_uc010apy.3_Missense_Mutation_p.A1864V|SYNE2_uc001xgn.3_Missense_Mutation_p.A441V|SYNE2_uc021rui.1_Missense_Mutation_p.A441V|SYNE2_uc001xgo.3_Non-coding_Transcript|SYNE2_uc010aqa.3_5'UTR	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	5479					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CAGAGGGCTGCTTATTTGGAA	0.473000														31			15		0	0	1	0	0
FRMPD4	9758	broad.mit.edu	37	X	12735195	12735195	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:12735195C>A	uc004cuz.2	+	14	3123	c.2617C>A	c.(2617-2619)Ctg>Atg	p.L873M	FRMPD4_uc011mij.2_Missense_Mutation_p.L865M	NM_014728	NP_055543	Q14CM0	FRPD4_HUMAN	Homo sapiens FERM and PDZ domain containing 4 (FRMPD4), mRNA.	873					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						CGTCTCCACGCTGGGAGCTCT	0.502000														92			8		0.000274275	0.000294507	1	1	0
IDE	3416	broad.mit.edu	37	10	94214257	94214257	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:94214257G>A	uc001kia.3	-	24	3080	c.3004C>T	c.(3004-3006)Ctg>Ttg	p.L1002L	IDE_uc010qnp.2_Silent_p.L447L|IDE_uc001khz.3_Silent_p.L447L	NM_004969	NP_004960	P14735	IDE_HUMAN	Homo sapiens insulin-degrading enzyme (IDE), transcript variant 1, mRNA.	1002					beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation	cell surface|extracellular space|soluble fraction	ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33					Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AACAGTGGCAGACCACGCTTG	0.413000														64			43		0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57768129	57768129	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:57768129C>T	uc002yan.3	+	0	2055	c.2055C>T	c.(2053-2055)tcC>tcT	p.S685S		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	685						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					AGGACATATCCGCAGGGGCAA	0.622000														15			5		0	0	1	0	0
CA5A	763	broad.mit.edu	37	16	87969994	87969994	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:87969994G>A	uc002fkn.1	-	0	119	c.63C>T	c.(61-63)gcC>gcT	p.A21A		NM_001739	NP_001730	P35218	CAH5A_HUMAN	Homo sapiens carbonic anhydrase VA, mitochondrial (CA5A), nuclear gene encoding mitochondrial protein, mRNA.	21					one-carbon metabolic process	mitochondrial matrix	carbonate dehydratase activity|zinc ion binding			large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(80;0.0513)		TCCAGAGAGGGGCCCACATCT	0.522000														57			27		0	0	1	0	0
IGFBPL1	347252	broad.mit.edu	37	9	38411458	38411458	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:38411458G>A	uc004aba.3	-	3	799	c.776C>T	c.(775-777)aCg>aTg	p.T259M	AK131521_uc004aaz.2_5'Flank	NM_001007563	NP_001007564	Q8WX77	IBPL1_HUMAN	Homo sapiens insulin-like growth factor binding protein-like 1 (IGFBPL1), mRNA.	259	Ig-like C2-type.				regulation of cell growth	extracellular region	insulin-like growth factor binding			endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	4				GBM - Glioblastoma multiforme(29;0.0437)|Lung(182;0.116)		ATCTAGAACCGTCACTGTGCT	0.483000														21			19		0	0	1	0	0
CYFIP2	26999	broad.mit.edu	37	5	156750996	156750996	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:156750996G>T	uc021ygm.1	+	15	1874	c.1736G>T	c.(1735-1737)aGg>aTg	p.R579M	CYFIP2_uc011ddn.2_Missense_Mutation_p.R554M|CYFIP2_uc011ddo.2_Missense_Mutation_p.R384M|CYFIP2_uc021ygn.1_Missense_Mutation_p.R579M|CYFIP2_uc021ygo.1_Missense_Mutation_p.R579M|CYFIP2_uc003lwt.3_Missense_Mutation_p.R483M|CYFIP2_uc011ddp.2_Missense_Mutation_p.R314M	NM_001037333	NP_001032410	Q96F07	CYFP2_HUMAN	Homo sapiens cytoplasmic FMR1 interacting protein 2 (CYFIP2), transcript variant 1, mRNA.	605					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding			breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AAGACCCTGAGGAGCAGCCTG	0.493000														8			6		5.18039e-06	5.80246e-06	1	1	0
IGSF9B	22997	broad.mit.edu	37	11	133791002	133791002	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:133791002C>T	uc001qgx.4	-	17	2849	c.2618G>A	c.(2617-2619)cGc>cAc	p.R873H		NM_014987	NP_055802	Q9UPX0	TUTLB_HUMAN	Homo sapiens immunoglobulin superfamily, member 9B (IGSF9B), mRNA.	873						integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		GCCCTCGATGCGCCTGCTCTT	0.662000														47			36		0	0	1	0	0
ADAM12	8038	broad.mit.edu	37	10	127797171	127797171	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:127797171G>A	uc001ljk.2	-	7	1154	c.741C>T	c.(739-741)caC>caT	p.H247H	ADAM12_uc010qul.1_Intron|ADAM12_uc001ljm.3_Silent_p.H247H|ADAM12_uc001ljn.3_Silent_p.H244H|ADAM12_uc001ljl.4_Silent_p.H244H	NM_003474	NP_003465	O43184	ADA12_HUMAN	Homo sapiens ADAM metallopeptidase domain 12 (ADAM12), transcript variant 1, mRNA.	247	Peptidase M12B.				cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	SH3 domain binding|metalloendopeptidase activity|protein binding|zinc ion binding			biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		CCTTGTCAACGTGATTAGCAA	0.363000														47			24		0	0	1	0	0
PSME3	10197	broad.mit.edu	37	17	40991321	40991321	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:40991321G>A	uc002ibq.3	+	9	873	c.647G>A	c.(646-648)cGc>cAc	p.R216H	PSME3_uc002ibp.3_Missense_Mutation_p.R142H|PSME3_uc002ibr.3_Missense_Mutation_p.R203H|PSME3_uc002ibs.3_Missense_Mutation_p.R214H|PSME3_uc010whd.2_Missense_Mutation_p.R90H	NM_176863	NP_789839	P61289	PSME3_HUMAN	Homo sapiens proteasome (prosome, macropain) activator subunit 3 (PA28 gamma; Ki) (PSME3), transcript variant 2, mRNA.	203					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of proteasomal protein catabolic process|viral reproduction	cytoplasm|nucleus|proteasome activator complex	MDM2 binding|endopeptidase activator activity|identical protein binding|p53 binding			NS(1)|cervix(1)|large_intestine(3)|lung(1)	6		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		GAGGACTATCGCCGCACCGTG	0.468000														25			24		0	0	1	0	0
MCM3	4172	broad.mit.edu	37	6	52138710	52138710	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:52138710T>G	uc003pan.1	-	9	1489	c.1379A>C	c.(1378-1380)gAc>gCc	p.D460A	MCM3_uc011dwu.1_Missense_Mutation_p.D414A	NM_002388	NP_002379	P25205	MCM3_HUMAN	Homo sapiens minichromosome maintenance complex component 3 (MCM3), mRNA.	460	MCM.				DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint	MCM complex|alpha DNA polymerase:primase complex|centrosome|perinuclear region of cytoplasm	ATP binding|DNA binding|helicase activity|protein binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Lung NSC(77;0.0931)					CTTATACTGGTCATACTGGGG	0.478000														27			14		0	0	1	0	0
TRAF3IP3	80342	broad.mit.edu	37	1	209950737	209950737	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:209950737G>A	uc001hho.3	+	11	1514	c.1094G>A	c.(1093-1095)cGa>cAa	p.R365Q	TRAF3IP3_uc001hhm.2_Intron|TRAF3IP3_uc001hhn.3_Missense_Mutation_p.R345Q|TRAF3IP3_uc009xcr.3_Missense_Mutation_p.R365Q	NM_025228	NP_079504	Q9Y228	T3JAM_HUMAN	Homo sapiens TRAF3 interacting protein 3 (TRAF3IP3), mRNA.	365						integral to membrane	protein binding			breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32				OV - Ovarian serous cystadenocarcinoma(81;0.045)		CAGGCCCTGCGATTTTTGGAA	0.537000														28			6		0	0	1	0	0
VARS	7407	broad.mit.edu	37	6	31750347	31750347	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31750347G>A	uc003nxe.3	-	15	2374	c.1951C>T	c.(1951-1953)Cgt>Tgt	p.R651C	VARS_uc021yuy.1_5'Flank|VARS_uc011doi.1_Non-coding_Transcript	NM_006295	NP_006286	P26640	SYVC_HUMAN	Homo sapiens valyl-tRNA synthetase (VARS), nuclear gene encoding mitochondrial protein, mRNA.	651					translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	TCAATGCCACGGAACAGTCCC	0.632000														16			10		0	0	1	0	0
ZC3H12B	340554	broad.mit.edu	37	X	64708943	64708943	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:64708943C>T	uc010nko.3	+	0	329	c.262C>T	c.(262-264)Cgt>Tgt	p.R88C		NM_001010888	NP_001010888	Q5HYM0	ZC12B_HUMAN	Homo sapiens zinc finger CCCH-type containing 12B (ZC3H12B), mRNA.	77							endonuclease activity|nucleic acid binding|zinc ion binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CTGCCTAGATCGTCCAAGTTT	0.502000														57			30		0	0	1	0	0
SEMA5A	9037	broad.mit.edu	37	5	9052040	9052040	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:9052040G>A	uc003jek.2	-	19	3502	c.2790C>T	c.(2788-2790)tgC>tgT	p.C930C		NM_003966	NP_003957	Q13591	SEM5A_HUMAN	Homo sapiens sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A (SEMA5A), mRNA.	930	TSP type-1 7.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						TGTTCCCGGAGCACTGGCTGC	0.552000														17			16		0	0	1	0	0
PRKDC	5591	broad.mit.edu	37	8	48761853	48761853	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:48761853G>A	uc003xqi.3	-	54	7196	c.7139C>T	c.(7138-7140)gCt>gTt	p.A2380V	PRKDC_uc003xqj.3_Missense_Mutation_p.A2380V	NM_006904	NP_008835	P78527	PRKDC_HUMAN	Homo sapiens protein kinase, DNA-activated, catalytic polypeptide (PRKDC), transcript variant 1, mRNA.	2381					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				AAAGAACACAGCATTCATGAA	0.542000								Non-homologous end-joining						96			40		0	0	1	0	0
FES	2242	broad.mit.edu	37	15	91437250	91437250	+	Missense_Mutation	SNP	A	G	G	rs147795278	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:91437250A>G	uc002bpv.3	+	17	2407	c.2288A>G	c.(2287-2289)aAc>aGc	p.N763S	FES_uc010uqj.2_Missense_Mutation_p.N635S|FES_uc010uqk.2_Missense_Mutation_p.N745S|FES_uc002bpx.3_Missense_Mutation_p.N693S|FES_uc002bpy.3_Missense_Mutation_p.N705S|FES_uc010bny.3_Missense_Mutation_p.N622S	NM_002005	NP_001996	P07332	FES_HUMAN	Homo sapiens feline sarcoma oncogene (FES), transcript variant 1, mRNA.	763	Protein kinase.				axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(2)|ovary(1)	3	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			CCCTATCCCAACCTCAGCAAT	0.612000														202			82		0	0	1	0	0
L1CAM	3897	broad.mit.edu	37	X	153134067	153134067	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153134067C>T	uc004fjb.3	-	11	1603	c.1495G>A	c.(1495-1497)Gct>Act	p.A499T	L1CAM_uc004fjc.3_Missense_Mutation_p.A499T|L1CAM_uc010nuo.3_Missense_Mutation_p.A494T|L1CAM_uc004fjd.1_Missense_Mutation_p.A313T	NM_000425	NP_000416	P32004	L1CAM_HUMAN	Homo sapiens L1 cell adhesion molecule (L1CAM), transcript variant 1, mRNA.	499	Ig-like C2-type 5.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TCATTGGCAGCCAGGCAGAAG	0.557000														44			22		0	0	1	0	0
C15orf29	79768	broad.mit.edu	37	15	34445073	34445073	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:34445073C>T	uc001zhp.3	-	3	516	c.356G>A	c.(355-357)cGa>cAa	p.R119Q	C15orf29_uc010ubz.2_Missense_Mutation_p.R23Q|C15orf29_uc010uca.1_Missense_Mutation_p.R119Q	NM_024713	NP_078989	Q9H079	CO029_HUMAN	Homo sapiens chromosome 15 open reading frame 29 (C15orf29), mRNA.	119						nucleolus				kidney(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	5		all_lung(180;1.86e-06)		all cancers(64;5.49e-18)|GBM - Glioblastoma multiforme(113;8.91e-07)|BRCA - Breast invasive adenocarcinoma(123;0.026)|Lung(196;0.229)		CAAATATGTTCGACTATCATG	0.413000														104			7		0	0	1	0	0
ST18	9705	broad.mit.edu	37	8	53084707	53084707	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:53084707A>G	uc003xqz.2	-	4	870	c.714T>C	c.(712-714)acT>acC	p.T238T	ST18_uc011ldq.1_5'UTR|ST18_uc011ldr.1_Silent_p.T203T|ST18_uc011lds.1_Silent_p.T143T|ST18_uc003xra.2_Silent_p.T238T|ST18_uc003xrb.2_Silent_p.T238T	NM_014682	NP_055497	O60284	ST18_HUMAN	Homo sapiens suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) (ST18), mRNA.	238						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TGTCACCTTCAGTTTTTATTT	0.428000														48			29		0	0	1	0	0
MKL2	57496	broad.mit.edu	37	16	14354843	14354843	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:14354843C>T	uc010uza.2	+	16	2997	c.2842C>T	c.(2842-2844)Cca>Tca	p.P948S	MKL2_uc002dcg.3_Missense_Mutation_p.P898S|MKL2_uc002dcj.3_Missense_Mutation_p.P193S	NM_014048	NP_054767	Q9ULH7	MKL2_HUMAN	Homo sapiens MKL/myocardin-like 2 (MKL2), mRNA.	937					cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CACCACAATGCCAGTGAATAC	0.458000														59			42		0	0	1	0	0
XPOT	11260	broad.mit.edu	37	12	64825547	64825547	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:64825547G>A	uc001ssb.3	+	17	2712	c.2206G>A	c.(2206-2208)Gca>Aca	p.A736T		NM_007235	NP_009166	O43592	XPOT_HUMAN	Homo sapiens exportin, tRNA (nuclear export receptor for tRNAs) (XPOT), mRNA.	736	Necessary for tRNA-binding, cytoplasmic localization and nuclear export.				intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		AGATTGTGAAGCAAAAGATCT	0.413000														47			42		0	0	1	0	0
FSTL5	56884	broad.mit.edu	37	4	162306918	162306918	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:162306918A>C	uc003iqh.3	-	15	2961	c.2525T>G	c.(2524-2526)aTt>aGt	p.I842S	FSTL5_uc003iqi.3_Missense_Mutation_p.I841S|FSTL5_uc010iqv.3_Missense_Mutation_p.I832S	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN	Homo sapiens follistatin-like 5 (FSTL5), transcript variant 1, mRNA.	842						extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TCCAACCCAAATGACTGTATT	0.348000														56			20		0	0	1	0	0
PARD6G	84552	broad.mit.edu	37	18	77918260	77918260	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:77918260G>A	uc002lny.3	-	2	691	c.525C>T	c.(523-525)cgC>cgT	p.R175R	LOC100130522_uc002lnx.2_Intron|LOC100130522_uc010xfo.2_Intron	NM_032510	NP_115899	Q9BYG4	PAR6G_HUMAN	Homo sapiens par-6 partitioning defective 6 homolog gamma (C. elegans) (PARD6G), mRNA.	175	Interaction with PARD3 and CDC42 (By similarity).|PDZ.				cell cycle|cell division|tight junction assembly	cytosol|tight junction	protein binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	8		all_cancers(4;5.63e-22)|all_epithelial(4;5.86e-15)|all_lung(4;1.32e-05)|Ovarian(4;1.33e-05)|Lung NSC(4;2.77e-05)|Esophageal squamous(42;0.0157)|all_hematologic(56;0.13)|Melanoma(33;0.144)		Epithelial(2;1.48e-13)|all cancers(1;5.77e-13)|OV - Ovarian serous cystadenocarcinoma(15;2.74e-10)|BRCA - Breast invasive adenocarcinoma(31;0.00166)|STAD - Stomach adenocarcinoma(84;0.18)|Lung(128;0.23)		TGGCGCCATCGCGGATGTAGA	0.697000														8			5		0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123781513	123781513	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:123781513G>T	uc001lfv.3	+	1	377	c.17G>T	c.(16-18)aGc>aTc	p.S6I	TACC2_uc001lfw.3_Missense_Mutation_p.S6I|TACC2_uc009xzx.3_Missense_Mutation_p.S6I|TACC2_uc010qtv.2_Missense_Mutation_p.S6I	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	6						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				AATGAGAACAGCACCTCGGAC	0.483000														25			13		4.93089e-13	6.11992e-13	1	1	0
CDH4	1002	broad.mit.edu	37	20	60427860	60427860	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:60427860C>T	uc002ybn.2	+	5	871	c.783C>T	c.(781-783)atC>atT	p.I261I	CDH4_uc002ybr.2_Silent_p.I224I|CDH4_uc002ybp.2_Silent_p.I187I	NM_001794	NP_001785	P55283	CADH4_HUMAN	Homo sapiens cadherin 4, type 1, R-cadherin (retinal) (CDH4), transcript variant 1, mRNA.	261	Cadherin 1.				adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			AGAACCCCATCGACCTGTACA	0.597000														64			37		0	0	1	0	0
L1CAM	3897	broad.mit.edu	37	X	153132843	153132843	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153132843G>A	uc004fjb.3	-	15	2213	c.2105C>T	c.(2104-2106)cCg>cTg	p.P702L	L1CAM_uc004fjc.3_Missense_Mutation_p.P702L|L1CAM_uc010nuo.3_Missense_Mutation_p.P697L	NM_000425	NP_000416	P32004	L1CAM_HUMAN	Homo sapiens L1 cell adhesion molecule (L1CAM), transcript variant 1, mRNA.	702	Fibronectin type-III 1.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane		p.P702P(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTCAGAGACCGGGCTGGGCTC	0.607000														96			44		0	0	1	0	0
MCHR1	2847	broad.mit.edu	37	22	41077581	41077581	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:41077581C>A	uc003ayz.3	+	1	1186	c.918C>A	c.(916-918)tcC>tcA	p.S306S	MCHR1_uc003aza.3_Silent_p.S195S|HV452684_uc003azb.1_Non-coding_Transcript	NM_005297	NP_005288	Q99705	MCHR1_HUMAN	Homo sapiens melanin-concentrating hormone receptor 1 (MCHR1), mRNA.	306					elevation of cytosolic calcium ion concentration|feeding behavior|generation of precursor metabolites and energy|inhibition of adenylate cyclase activity by G-protein signaling pathway	integral to plasma membrane|nonmotile primary cilium	neuropeptide receptor activity	p.S306F(2)		endometrium(5)|large_intestine(7)|lung(6)|pancreas(1)|urinary_tract(1)	20						GCATGACGTCCTCAGTGGCCC	0.602000														33			20		5.26018e-13	6.52578e-13	1	1	0
TMCC2	9911	broad.mit.edu	37	1	205240997	205240997	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:205240997G>A	uc021pia.1	+	4	2530	c.1875G>A	c.(1873-1875)caG>caA	p.Q625Q	TMCC2_uc010prf.2_Silent_p.Q547Q|TMCC2_uc001hca.3_Silent_p.Q400Q|TMCC2_uc001hcb.2_Silent_p.Q385Q|TMCC2_uc001hcc.2_Silent_p.Q246Q|TMCC2_uc001hcd.3_3'UTR	NM_014858	NP_001229854	O75069	TMCC2_HUMAN	Homo sapiens transmembrane and coiled-coil domain family 2 (TMCC2), transcript variant 1, mRNA.	625						integral to membrane	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1)	20	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			AGCAGCAACAGCAGCAGGTGG	0.662000														28			33		0	0	1	0	0
KBTBD12	166348	broad.mit.edu	37	3	127642601	127642601	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:127642601G>T	uc010hsr.3	+	0	700	c.697G>T	c.(697-699)Gcc>Tcc	p.A233S	KBTBD12_uc003ejy.4_Intron|KBTBD12_uc010hsq.3_Intron|KBTBD12_uc003eka.4_Intron|KBTBD12_uc003ejz.2_Missense_Mutation_p.A233S	NM_207335	NP_997218	Q3ZCT8	KBTBC_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 12 (KBTBD12), mRNA.	233	BACK.									endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						TTTAAGACAAGCCCTAAGAAG	0.383000														67			10		2.17888e-05	2.40634e-05	1	1	0
TOM1L2	146691	broad.mit.edu	37	17	17751069	17751069	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:17751069G>T	uc002grz.4	-	14	1561	c.1404C>A	c.(1402-1404)gcC>gcA	p.A468A	TOM1L2_uc002gry.4_Silent_p.A418A|TOM1L2_uc010vwy.2_Silent_p.A444A|TOM1L2_uc010cpr.3_Silent_p.A423A|TOM1L2_uc010vwz.2_Silent_p.A349A|TOM1L2_uc010vxa.2_Silent_p.A350A|TOM1L2_uc002grv.4_Silent_p.A201A	NM_001082968	NP_001076437	Q6ZVM7	TM1L2_HUMAN	Homo sapiens target of myb1-like 2 (chicken) (TOM1L2), transcript variant 3, mRNA.	468					intracellular protein transport	intracellular				endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(2)	10	all_neural(463;0.228)					CAGCAGCTTTGGCTCTTTCTT	0.582000														66			7		0.000157383	0.000170012	1	1	0
LINC00264	645528	broad.mit.edu	37	10	26880238	26880238	+	Splice_Site	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:26880238G>A	uc001ist.3	+	2		c.474_splice	c.e2-1							Homo sapiens long intergenic non-protein coding RNA 264 (LINC00264), non-coding RNA.																		CTCCCTCTCAGGACCTATAAA	0.423000														17			11		0	0	1	0	0
TMEM8A	58986	broad.mit.edu	37	16	426671	426671	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:426671G>A	uc002cgu.4	-	4	906	c.777C>T	c.(775-777)acC>acT	p.T259T	TMEM8A_uc002cgv.4_Silent_p.T66T	NM_021259	NP_067082	Q9HCN3	TMM8A_HUMAN	Homo sapiens transmembrane protein 8A (TMEM8A), mRNA.	259					cell adhesion	integral to plasma membrane				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	14						AGGGGGCACCGGTGCAGGTGA	0.706000														3			7		0	0	1	0	0
KAT6B	23522	broad.mit.edu	37	10	76781930	76781930	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:76781930A>G	uc001jwn.1	+	15	3806	c.3313A>G	c.(3313-3315)Aat>Gat	p.N1105D	KAT6B_uc001jwm.1_Missense_Mutation_p.N813D|KAT6B_uc001jwo.1_Missense_Mutation_p.N813D|KAT6B_uc001jwp.1_Missense_Mutation_p.N922D	NM_012330	NP_036462	Q8WYB5	MYST4_HUMAN	Homo sapiens K(lysine) acetyltransferase 6B (KAT6B), mRNA.	1105					histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding										agaagaagaaAATATTCAAAG	0.448000											OREG0020273	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		38			40		0	0	1	0	0
TROAP	10024	broad.mit.edu	37	12	49724763	49724763	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:49724763G>T	uc009zlh.3	+	12	2302	c.2135G>T	c.(2134-2136)aGg>aTg	p.R712M	TROAP_uc001rtx.4_Intron	NM_005480	NP_005471	Q12815	TROAP_HUMAN	Homo sapiens trophinin associated protein (tastin) (TROAP), transcript variant 1, mRNA.	729					cell adhesion	cytoplasm		p.L711L(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						GAACACAAGAGGTCCTCACCT	0.617000														25			24		5.35356e-11	6.51008e-11	1	1	0
DHX16	8449	broad.mit.edu	37	6	30623075	30623075	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:30623075C>A	uc003nqz.3	-	17	2912	c.2700G>T	c.(2698-2700)gaG>gaT	p.E900D	DHX16_uc003nqy.3_Missense_Mutation_p.E419D|DHX16_uc011dmo.2_Missense_Mutation_p.E840D	NM_003587	NP_003578	O60231	DHX16_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 16 (DHX16), transcript variant 1, mRNA.	900					RNA splicing|mRNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA helicase activity|nucleic acid binding			kidney(2)|ovary(2)	4						GTACAAAGTTCTCATAGCACC	0.512000														54			26		1.66031e-10	2.00663e-10	1	1	0
NOL4	8715	broad.mit.edu	37	18	31684026	31684026	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:31684026G>A	uc010dmi.3	-	3	922	c.624C>T	c.(622-624)aaC>aaT	p.N208N	NOL4_uc002kxr.4_Silent_p.N44N|NOL4_uc010xbt.2_Silent_p.N134N|NOL4_uc010dmh.3_Silent_p.N134N|NOL4_uc010xbu.2_Silent_p.N208N|NOL4_uc002kxt.4_Silent_p.N208N	NM_003787	NP_001185478	O94818	NOL4_HUMAN	Homo sapiens nucleolar protein 4 (NOL4), transcript variant 1, mRNA.	208						nucleolus	RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						CTTGCTGTGAGTTTAGCAGCT	0.383000														40			32		0	0	1	0	0
FERMT1	55612	broad.mit.edu	37	20	6068529	6068529	+	Splice_Site	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:6068529G>A	uc002wmr.3	-	11	2054	c.1265_splice	c.e11-1	p.G422_splice	FERMT1_uc002wmq.3_Splice_Site|FERMT1_uc010gbt.3_Splice_Site_p.G165_splice|FERMT1_uc002wms.3_Splice_Site_p.G422_splice	NM_017671	NP_060141	Q9BQL6	FERM1_HUMAN	Homo sapiens fermitin family member 1 (FERMT1), mRNA.	422	FERM.|PH.				cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation	cytosol|focal adhesion|ruffle membrane	binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						CAACTTCGCAGCCTGAAGGAC	0.398000														56			33		0	0	1	0	0
USP9X	8239	broad.mit.edu	37	X	41025363	41025363	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:41025363C>T	uc004dfb.3	+	15	2857	c.2224C>T	c.(2224-2226)Cga>Tga	p.R742*	USP9X_uc004dfc.3_Nonsense_Mutation_p.R742*	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN	Homo sapiens ubiquitin specific peptidase 9, X-linked (USP9X), transcript variant 3, mRNA.	742					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						GTGTTTTGAGCGATTCTTCAA	0.363000														73			38		0	0	1	0	0
OR8H2	390151	broad.mit.edu	37	11	55873189	55873189	+	Missense_Mutation	SNP	C	T	T	rs138370909		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:55873189C>T	uc010riy.2	+	0	671	c.671C>T	c.(670-672)aCc>aTc	p.T224I		NM_001005200	NP_001005200	Q8N162	OR8H2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily H, member 2 (OR8H2), mRNA.	224					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T224I(2)|p.T224M(2)|p.T224T(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					ATTCTCTTTACCATCCTGAAA	0.388000										HNSCC(53;0.14)				90			41		0	0	1	0	0
TYK2	7297	broad.mit.edu	37	19	10465199	10465199	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10465199C>A	uc002moc.4	-	18	3082	c.2704G>T	c.(2704-2706)Gat>Tat	p.D902Y	TYK2_uc010dxe.3_Missense_Mutation_p.D717Y	NM_003331	NP_003322	P29597	TYK2_HUMAN	Homo sapiens tyrosine kinase 2 (TYK2), mRNA.	902	Protein kinase 2.				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			TCGCCCAGATCTCGGATCTTT	0.552000														48			10		2.27111e-07	2.61452e-07	1	1	0
NMBR	4829	broad.mit.edu	37	6	142397024	142397024	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:142397024G>T	uc003qiu.3	-	2	1075	c.934C>A	c.(934-936)Ctc>Atc	p.L312I		NM_002511	NP_002502	P28336	NMBR_HUMAN	Homo sapiens neuromedin B receptor (NMBR), mRNA.	312					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	cytoplasm|integral to plasma membrane	bombesin receptor activity			breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)		CCAAAACTGAGAACCCGGGCA	0.443000														40			26		7.92952e-12	9.72855e-12	1	1	0
VCAN	1462	broad.mit.edu	37	5	82817011	82817011	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:82817011G>T	uc003kii.3	+	6	3242	c.2886G>T	c.(2884-2886)gaG>gaT	p.E962D	VCAN_uc003kij.3_Intron|VCAN_uc010jau.2_Missense_Mutation_p.E962D|VCAN_uc003kik.3_Intron	NM_004385	NP_004376	P13611	CSPG2_HUMAN	Homo sapiens versican (VCAN), transcript variant 1, mRNA.	962	GAG-alpha (glucosaminoglycan attachment domain).				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		GCACCCAAGAGCCTACTACTT	0.433000														81			45		2.74695e-27	3.60755e-27	1	1	0
MTHFD1	4522	broad.mit.edu	37	14	64879239	64879239	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:64879239C>T	uc001xhb.3	+	3	623	c.236C>T	c.(235-237)tCt>tTt	p.S79F	MTHFD1_uc010aqe.2_Missense_Mutation_p.S115F|MTHFD1_uc010aqf.3_Missense_Mutation_p.S135F	NM_005956	NP_005947	P11586	C1TC_HUMAN	Homo sapiens methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase (MTHFD1), mRNA.	79	Methylenetetrahydrofolate dehydrogenase and cyclohydrolase.				folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process	cytosol|mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase|methylenetetrahydrofolate dehydrogenase (NADP+) activity|protein binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30				OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	NADH(DB00157)|Tetrahydrofolic acid(DB00116)	ACCACAGAATCTGAGGTGAGC	0.423000														36			19		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140167108	140167108	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140167108C>T	uc003lhb.2	+	0	1233	c.1233C>T	c.(1231-1233)agC>agT	p.S411S	PCDHAC2_uc003lha.2_Silent_p.S411S|PCDHAC2_uc003lgz.3_Silent_p.S411S	NM_018900	NP_061723	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 1 (PCDHA1), transcript variant 1, mRNA.	425	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTTGGACAGCGCCCTGGATC	0.632000														105			23		0	0	1	0	0
C10orf68	79741	broad.mit.edu	37	10	33134814	33134814	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:33134814G>T	uc001iwm.1	+	14	1508	c.1272G>T	c.(1270-1272)aaG>aaT	p.K424N	C10orf68_uc001iwl.1_Missense_Mutation_p.K379N|C10orf68_uc001iwn.4_Missense_Mutation_p.K420N|C10orf68_uc010qei.1_Missense_Mutation_p.K396N|C10orf68_uc001iwo.4_Non-coding_Transcript	NM_024688	NP_078964	Q9H943	CJ068_HUMAN	Homo sapiens chromosome 10 open reading frame 68 (C10orf68), mRNA.	420										breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						AGACTGATAAGGAATTCTTGG	0.348000														61			30		4.02929e-09	4.77839e-09	1	1	0
USP20	10868	broad.mit.edu	37	9	132632081	132632081	+	Missense_Mutation	SNP	C	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:132632081C>G	uc004bys.2	+	13	1734	c.1523C>G	c.(1522-1524)gCc>gGc	p.A508G	USP20_uc004byr.2_Missense_Mutation_p.A508G|USP20_uc004byt.1_Missense_Mutation_p.A508G	NM_001110303	NP_006667	Q9Y2K6	UBP20_HUMAN	Homo sapiens ubiquitin specific peptidase 20 (USP20), transcript variant 3, mRNA.	508					endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	G-protein-coupled receptor binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11		Ovarian(14;0.00556)				GACAGCTATGCCGCCCAGGGC	0.617000														52			29		0	0	1	0	0
CLN8	2055	broad.mit.edu	37	8	1728703	1728703	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:1728703C>T	uc003wpo.4	+	2	1136	c.831C>T	c.(829-831)aaC>aaT	p.N277N		NM_018941	NP_061764	Q9UBY8	CLN8_HUMAN	Homo sapiens ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation) (CLN8), mRNA.	277					cell death|ceramide biosynthetic process|cholesterol metabolic process|lipid transport|negative regulation of proteolysis|phospholipid metabolic process	ER-Golgi intermediate compartment membrane|endoplasmic reticulum membrane|integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24		Ovarian(12;0.0563)|Colorectal(14;0.0815)|Hepatocellular(245;0.0831)		BRCA - Breast invasive adenocarcinoma(11;7.67e-05)|READ - Rectum adenocarcinoma(644;0.0913)		CAGAAGGCAACGGGCAGCTGC	0.592000														66			31		0	0	1	0	0
DNHD1	144132	broad.mit.edu	37	11	6541014	6541014	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6541014A>G	uc001mdw.4	+	7	2141	c.1577A>G	c.(1576-1578)tAc>tGc	p.Y526C	DNHD1_uc001mdp.3_Missense_Mutation_p.Y526C|DNHD1_uc001mdq.3_Missense_Mutation_p.Y215C	NM_144666	NP_653267	Q96M86	DNHD1_HUMAN	Homo sapiens dynein heavy chain domain 1 (DNHD1), transcript variant 1, mRNA.	526					microtubule-based movement	dynein complex	microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CTGGTTGACTACATGATTTGT	0.517000														42			34		0	0	1	0	0
SYNJ2	8871	broad.mit.edu	37	6	158516907	158516907	+	Silent	SNP	G	A	A	rs3749847		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:158516907G>A	uc003qqx.2	+	26	4108	c.4002G>A	c.(4000-4002)ccG>ccA	p.P1334P	SYNJ2_uc003qqy.2_Silent_p.P1097P|SYNJ2_uc003qqz.2_Silent_p.P951P|SYNJ2_uc003qra.2_Silent_p.P677P	NM_003898	NP_001171559	O15056	SYNJ2_HUMAN	Homo sapiens synaptojanin 2 (SYNJ2), transcript variant 1, mRNA.	1334	Pro-rich.						RNA binding|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity	p.P1334L(1)		biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		AGGTACCCCCGAGGAGGAAGA	0.637000														40			29		0	0	1	0	0
GPR65	8477	broad.mit.edu	37	14	88477671	88477671	+	Silent	SNP	C	T	T	rs139775422	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:88477671C>T	uc021rxh.1	+	0	480	c.480C>T	c.(478-480)tgC>tgT	p.C160C	GPR65_uc001xvv.3_Silent_p.C160C	NM_003608	NP_003599	Q8IYL9	PSYR_HUMAN	Homo sapiens G protein-coupled receptor 65 (GPR65), mRNA.	160					actin cytoskeleton reorganization|activation of Rho GTPase activity|apoptosis|immune response|multicellular organismal development|positive regulation of cAMP biosynthetic process|positive regulation of stress fiber assembly|response to acidity	integral to plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)	16						TTGAATATTGCGATGCCGAAA	0.398000														79			49		0	0	1	0	0
SYNPO2	171024	broad.mit.edu	37	4	119951134	119951134	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:119951134C>T	uc010inb.3	+	3	1400	c.1204C>T	c.(1204-1206)Cgg>Tgg	p.R402W	SYNPO2_uc010ina.3_Missense_Mutation_p.R402W|SYNPO2_uc003icm.4_Missense_Mutation_p.R402W|SYNPO2_uc011cgh.2_Intron|SYNPO2_uc010inc.3_Missense_Mutation_p.R330W|SYNPO2_uc021xrd.1_5'Flank	NM_133477	NP_597734	Q9UMS6	SYNP2_HUMAN	Homo sapiens synaptopodin 2 (SYNPO2), transcript variant 1, mRNA.	402	Poly-Arg.					Z disc|nucleus	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GAAGCGACGTCGGAGGGCCAG	0.507000														54			29		0	0	1	0	0
SECISBP2L	9728	broad.mit.edu	37	15	49327791	49327791	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:49327791A>G	uc001zxe.2	-	2	532	c.268T>C	c.(268-270)Tac>Cac	p.Y90H	SECISBP2L_uc001zxd.2_Missense_Mutation_p.Y90H|SECISBP2L_uc010bep.2_Intron|SECISBP2L_uc010beq.2_Missense_Mutation_p.Y90H	NM_001193489	NP_001180418	Q93073	SBP2L_HUMAN	Homo sapiens SECIS binding protein 2-like (SECISBP2L), transcript variant 1, mRNA.	90										breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						TAGGCAAAGTATGGTCCAGTA	0.403000														57			40		0	0	1	0	0
GRAP	10750	broad.mit.edu	37	17	18925335	18925335	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:18925335C>T	uc002guy.3	-	4	688	c.591G>A	c.(589-591)cgG>cgA	p.R197R		NM_006613	NP_006604	Q13588	GRAP_HUMAN	Homo sapiens GRB2-related adaptor protein (GRAP), mRNA.	197	SH3 2.				Ras protein signal transduction|cell-cell signaling	cytoplasm	SH3/SH2 adaptor activity			large_intestine(1)|urinary_tract(1)	2	all_cancers(12;0.0183)					AGGACCGGCCCCGCCACCAGT	0.672000														11			6		0	0	1	0	0
RAD1	5810	broad.mit.edu	37	5	34911753	34911753	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:34911753G>T	uc003jix.3	-	3	801	c.472C>A	c.(472-474)Ctg>Atg	p.L158M	RAD1_uc003jiw.3_Missense_Mutation_p.L49M|RAD1_uc003jiy.3_Missense_Mutation_p.L158M	NM_002853	NP_002844	O60671	RAD1_HUMAN	Homo sapiens RAD1 homolog (S. pombe) (RAD1), transcript variant 1, mRNA.	158					DNA damage checkpoint|DNA repair|DNA replication|meiotic prophase I	nucleoplasm	3'-5' exonuclease activity|damaged DNA binding|exodeoxyribonuclease III activity|protein binding			endometrium(3)|large_intestine(1)|lung(5)|urinary_tract(1)	10	all_lung(31;0.000107)	Lung NSC(810;5.19e-05)|Ovarian(839;0.0448)|Breast(839;0.198)	COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)			TCTGACTGCAGAATAATTTTA	0.423000								Other conserved DNA damage response genes						61			42		8.17448e-37	1.08457e-36	1	1	0
ZNF880	400713	broad.mit.edu	37	19	52887684	52887684	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:52887684C>T	uc002pzc.3	+	3	900	c.851C>T	c.(850-852)gCa>gTa	p.A284V	ZNF880_uc021uyu.1_Missense_Mutation_p.A284V|ZNF880_uc021uyv.1_5'Flank	NM_001145434	NP_001138906	Q6PDB4	ZN880_HUMAN	Homo sapiens zinc finger protein 880 (ZNF880), mRNA.	284					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	10						TCTCACCTTGCAAATCATCAC	0.408000														20			4		0	0	1	0	0
MYO6	4646	broad.mit.edu	37	6	76582984	76582984	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:76582984G>A	uc003pih.1	+	19	2323	c.2044G>A	c.(2044-2046)Ggt>Agt	p.G682S	MYO6_uc003pig.1_Missense_Mutation_p.G682S|MYO6_uc003pii.1_Missense_Mutation_p.G682S	NM_004999	NP_004990	Q9UM54	MYO6_HUMAN	Homo sapiens myosin VI (MYO6), mRNA.	682	Myosin head-like.				DNA damage response, signal transduction by p53 class mediator|actin filament-based movement|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	DNA-directed RNA polymerase II, holoenzyme|Golgi apparatus|cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|filamentous actin|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	ADP binding|ATP binding|actin filament binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding	p.E681E(1)		breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		CCACTTTGAAGGTGCTCAAAT	0.358000														30			11		0	0	1	0	0
CDX4	1046	broad.mit.edu	37	X	72667386	72667386	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:72667386C>T	uc011mqk.2	+	0	297	c.297C>T	c.(295-297)aaC>aaT	p.N99N		NM_005193	NP_005184	O14627	CDX4_HUMAN	Homo sapiens caudal type homeobox 4 (CDX4), mRNA.	99						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|skin(1)	18	Renal(35;0.156)					TGCCGGTGAACGACGTGACCT	0.647000														18			9		0	0	1	0	0
METTL2B	55798	broad.mit.edu	37	7	128119556	128119556	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:128119556C>T	uc003vnf.3	+	2	584	c.547C>T	c.(547-549)Cga>Tga	p.R183*	METTL2B_uc003vng.3_Nonsense_Mutation_p.R118*|METTL2B_uc011kop.2_Nonsense_Mutation_p.R47*	NM_018396	NP_060866	Q6P1Q9	MTL2B_HUMAN	Homo sapiens methyltransferase like 2B (METTL2B), mRNA.	183							methyltransferase activity			breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						AGCCACCTACCGAATACTGGA	0.408000														73			5		0	0	1	0	0
HAUS5	23354	broad.mit.edu	37	19	36110348	36110348	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:36110348G>A	uc002oam.1	+	13	1253	c.1202G>A	c.(1201-1203)cGc>cAc	p.R401H		NM_015302	NP_056117	O94927	HAUS5_HUMAN	Homo sapiens HAUS augmin-like complex, subunit 5 (HAUS5), mRNA.	401					cell division|centrosome organization|mitosis|spindle assembly	HAUS complex|centrosome|microtubule|spindle				NS(1)|breast(2)|cervix(3)|endometrium(1)|large_intestine(2)|lung(5)|skin(2)	16						GAACAGGTCCGCCTGCTCATC	0.632000														22			18		0	0	1	0	0
PRB4	5545	broad.mit.edu	37	12	11463274	11463274	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:11463274C>A	uc001qzf.1	-	0	93	c.59G>T	c.(58-60)aGt>aTt	p.S20I	PRB4_uc001qzt.3_Missense_Mutation_p.S20I	NM_002723	NP_002714	P10163	PRB4_HUMAN	Homo sapiens proline-rich protein BstNI subfamily 4 (PRB4), mRNA.	20						extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						TTTACCTTCACTTGAACTCTC	0.527000										HNSCC(22;0.051)				103			39		4.44401e-20	5.7282e-20	1	1	0
SPTBN1	6711	broad.mit.edu	37	2	54876139	54876139	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:54876139C>T	uc002rxu.3	+	24	5263	c.5014C>T	c.(5014-5016)Cgg>Tgg	p.R1672W	SPTBN1_uc002rxx.3_Missense_Mutation_p.R1659W	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 1 (SPTBN1), transcript variant 1, mRNA.	1672	Interaction with ANK2.				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			CATTAGCATGCGGCAGTCCAA	0.448000														12			11		0	0	1	0	0
CSNK1E	1454	broad.mit.edu	37	22	38690147	38690147	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:38690147G>A	uc003avj.3	-	8	1447	c.1186C>T	c.(1186-1188)Cgg>Tgg	p.R396W	CSNK1E_uc003avk.3_Missense_Mutation_p.R396W|CSNK1E_uc003avm.2_Missense_Mutation_p.R396W	NM_152221	NP_689407	P49674	KC1E_HUMAN	Homo sapiens casein kinase 1, epsilon (CSNK1E), transcript variant 1, mRNA.	396					DNA repair|G2/M transition of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|signal transduction	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22	Melanoma(58;0.045)					ACCTCTTGCCGCCCAGTGAGG	0.652000														10			6		0	0	1	0	0
ZNF429	353088	broad.mit.edu	37	19	21720457	21720457	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:21720457G>A	uc002nqd.1	+	3	1739	c.1602G>A	c.(1600-1602)gaG>gaA	p.E534E	ZNF429_uc010ecu.2_Intron	NM_001001415	NP_001001415	Q86V71	ZN429_HUMAN	Homo sapiens zinc finger protein 429 (ZNF429), mRNA.	534					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E534D(2)		endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						ATACTGGAGAGAAACCTTACA	0.363000														26			19		0	0	1	0	0
ZSWIM5	57643	broad.mit.edu	37	1	45501950	45501950	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:45501950G>T	uc001cnd.2	-	8	2144	c.1916C>A	c.(1915-1917)cCt>cAt	p.P639H		NM_020883	NP_065934	Q9P217	ZSWM5_HUMAN	Homo sapiens zinc finger, SWIM-type containing 5 (ZSWIM5), mRNA.	639							zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					CTGGTACACAGGGGGTCTGCT	0.478000														41			17		1.5739e-10	1.90488e-10	1	1	0
SLC35C2	51006	broad.mit.edu	37	20	44983845	44983845	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:44983845G>A	uc010zxp.2	-	6	624	c.531C>T	c.(529-531)gcC>gcT	p.A177A	SLC35C2_uc002xro.3_Silent_p.A148A|SLC35C2_uc002xrp.3_Intron|SLC35C2_uc002xrq.3_Silent_p.A148A|SLC35C2_uc002xrr.3_Silent_p.A148A|SLC35C2_uc010zxn.2_Intron|SLC35C2_uc010zxo.2_Silent_p.A34A	NM_173179	NP_775271	Q9NQQ7	S35C2_HUMAN	Homo sapiens solute carrier family 35, member C2 (SLC35C2), transcript variant 1, mRNA.	148					transport	integral to membrane				cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	16		Myeloproliferative disorder(115;0.0122)				AGAGACCCCCGGCGATGAGGA	0.607000														23			12		0	0	1	0	0
SMAP1	60682	broad.mit.edu	37	6	71562252	71562252	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:71562252C>A	uc003pfr.3	+	7	922	c.674C>A	c.(673-675)gCt>gAt	p.A225D	SMAP1_uc003pfs.3_Missense_Mutation_p.A198D|SMAP1_uc010kao.3_Missense_Mutation_p.A198D|SMAP1_uc010kap.3_Missense_Mutation_p.A215D	NM_001044305	NP_001037770	Q8IYB5	SMAP1_HUMAN	Homo sapiens small ArfGAP 1 (SMAP1), transcript variant 1, mRNA.	225					regulation of ARF GTPase activity	plasma membrane	ARF GTPase activator activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(1)	15						GATGGCCCTGCTGTGGCACCA	0.398000														96			7		2.0095e-06	2.27092e-06	1	1	0
TFAP2D	83741	broad.mit.edu	37	6	50683315	50683315	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:50683315G>T	uc003paf.3	+	1	1038	c.526G>T	c.(526-528)Gac>Tac	p.D176Y	TFAP2D_uc011dwt.2_Non-coding_Transcript	NM_172238	NP_758438	Q7Z6R9	AP2D_HUMAN	Homo sapiens transcription factor AP-2 delta (activating enhancer binding protein 2 delta) (TFAP2D), mRNA.	176							DNA binding|sequence-specific DNA binding transcription factor activity	p.A175S(1)		NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					CGCGGGAGCAGACGACTTGCA	0.602000														42			44		1.72184e-34	2.28044e-34	1	1	0
PDE4DIP	9659	broad.mit.edu	37	1	144865846	144865846	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:144865846G>A	uc021ouh.1	-	34	6036	c.5734C>T	c.(5734-5736)Cga>Tga	p.R1912*	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|PDE4DIP_uc001elw.4_Nonsense_Mutation_p.R1912*|PDE4DIP_uc001elx.4_Nonsense_Mutation_p.R1806*|PDE4DIP_uc001elv.4_Nonsense_Mutation_p.R919*|PDE4DIP_uc001ema.3_Nonsense_Mutation_p.R99*	NM_001198834	NP_001185763	Q5VU43	MYOME_HUMAN	Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA.	1912					cellular protein complex assembly	Golgi apparatus|centrosome|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TGAAGTCTTCGATTGTCTTCC	0.478000			T	PDGFRB	MPD									358			15		0	0	1	0	0
CCDC39	339829	broad.mit.edu	37	3	180334613	180334613	+	Splice_Site	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:180334613C>T	uc010hxe.3	-	17	2521	c.2406_splice	c.e17+1	p.Q802_splice	CCDC39_uc003fkn.3_Splice_Site|TTC14_uc003fkm.2_Intron	NM_181426	NP_852091	Q9UFE4	CCD39_HUMAN	Homo sapiens coiled-coil domain containing 39 (CCDC39), mRNA.	802					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			GATATCGATACCTGTTTGGTC	0.308000														12			6		0	0	1	0	0
ATRNL1	26033	broad.mit.edu	37	10	117061554	117061554	+	Splice_Site	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:117061554G>A	uc001lcg.3	+	17	3204	c.2818_splice	c.e17+1	p.P940_splice	ATRNL1_uc010qsm.2_Splice_Site_p.P115_splice|ATRNL1_uc010qsn.2_Splice_Site	NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN	Homo sapiens attractin-like 1 (ATRNL1), mRNA.	940						integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		ACCTGCTCCCGTAAGTATTTA	0.363000														64			31		0	0	1	0	0
DHX9	1660	broad.mit.edu	37	1	182853875	182853875	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:182853875C>T	uc001gpr.3	+	26	3563	c.3388C>T	c.(3388-3390)Cgt>Tgt	p.R1130C	DHX9_uc001gps.3_Missense_Mutation_p.R916C|DHX9_uc001gpt.3_Missense_Mutation_p.R409C|DHX9_uc009wyd.3_Missense_Mutation_p.R95C	NM_001357	NP_001348	Q08211	DHX9_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 9 (DHX9), transcript variant 1, mRNA.	1130					CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	CRD-mediated mRNA stability complex|centrosome|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						CGTAAATGAACGTATGCTGAA	0.478000														50			42		0	0	1	0	0
BSN	8927	broad.mit.edu	37	3	49695448	49695448	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49695448C>A	uc003cxe.4	+	4	8573	c.8459C>A	c.(8458-8460)gCt>gAt	p.A2820D		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.	2820					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CTGAACAAAGCTCACGTGAGT	0.627000														41			30		7.01153e-11	8.50817e-11	1	1	0
FBN3	84467	broad.mit.edu	37	19	8139980	8139980	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:8139980C>T	uc002mjf.3	-	59	7694	c.7677G>A	c.(7675-7677)caG>caA	p.Q2559Q	FBN3_uc002mje.3_Silent_p.Q355Q	NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	2559	EGF-like 42; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						ACTGGGAGTGCTGGGTGAAAC	0.612000														42			24		0	0	1	0	0
LIPA	3988	broad.mit.edu	37	10	90984859	90984859	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:90984859T>C	uc001kgc.4	-	4	961	c.671A>G	c.(670-672)cAt>cGt	p.H224R	LIPA_uc001kgb.4_Missense_Mutation_p.H166R|LIPA_uc010qnf.2_Missense_Mutation_p.H27R|LIPA_uc001kga.4_Missense_Mutation_p.H222R|LIPA_uc009xtq.3_Missense_Mutation_p.H222R|LIPA_uc009xtr.1_5'Flank	NM_001127605	NP_001121077	P38571	LICH_HUMAN	Homo sapiens lipase A, lysosomal acid, cholesterol esterase (LIPA), transcript variant 1, mRNA.	222					lipid catabolic process	lysosome	lipase activity|sterol esterase activity			endometrium(1)|large_intestine(2)|lung(3)	6		Colorectal(252;0.0162)		GBM - Glioblastoma multiforme(2;0.00406)		CTTAATGAGATGATCTGGTAA	0.498000														322			29		0	0	1	0	0
UCMA	221044	broad.mit.edu	37	10	13276238	13276238	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:13276238G>A	uc001imd.3	-	0	91	c.21C>T	c.(19-21)gtC>gtT	p.V7V		NM_145314	NP_660357	Q8WVF2	UCMA_HUMAN	Homo sapiens upper zone of growth plate and cartilage matrix associated (UCMA), mRNA.	7						proteinaceous extracellular matrix				breast(2)|endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	9						AAGACAGCAGGACGGCCTGTC	0.582000														28			3		0	0	1	0	0
OR5D13	390142	broad.mit.edu	37	11	55541585	55541585	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:55541585C>T	uc010ril.2	+	0	672	c.672C>T	c.(670-672)ttC>ttT	p.F224F		NM_001001967	NP_001001967	Q8NGL4	OR5DD_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 13 (OR5D13), mRNA.	224					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				TGCTTATTTTCACTACCATTA	0.438000														67			20		0	0	1	0	0
STAG1	10274	broad.mit.edu	37	3	136260977	136260977	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:136260977G>T	uc003era.1	-	5	747	c.455C>A	c.(454-456)aCt>aAt	p.T152N	STAG1_uc003erb.1_Missense_Mutation_p.T152N|STAG1_uc003erc.1_5'UTR|STAG1_uc010hua.1_Missense_Mutation_p.T15N|STAG1_uc003ere.3_Missense_Mutation_p.T152N	NM_005862	NP_005853	Q8WVM7	STAG1_HUMAN	Homo sapiens stromal antigen 1 (STAG1), mRNA.	152					cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						AAATTCTTCAGTCATTTTTCT	0.299000														49			27		2.12542e-12	2.62166e-12	1	1	0
RYR2	6262	broad.mit.edu	37	1	237872343	237872343	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:237872343G>A	uc001hyl.1	+	68	10207	c.10087G>A	c.(10087-10089)Gcc>Acc	p.A3363T	RYR2_uc010pxz.1_Missense_Mutation_p.A318T	NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	3363					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CACCACACTGGCCAGAGATCT	0.473000														19			14		0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38810662	38810662	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:38810662C>T	uc021yzh.1	+	34	4937	c.4828C>T	c.(4828-4830)Cat>Tat	p.H1610Y	DNAH8_uc003ooe.2_Missense_Mutation_p.H1393Y	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						ACTCCTTAAACATAAGGATGA	0.358000														60			7		0	0	1	0	0
PARS2	25973	broad.mit.edu	37	1	55224353	55224353	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:55224353G>A	uc021ont.1	-	0	482	c.482C>T	c.(481-483)gCc>gTc	p.A161V	PARS2_uc001cxy.3_Missense_Mutation_p.A161V	NM_152268	NP_689481	Q7L3T8	SYPM_HUMAN	Homo sapiens prolyl-tRNA synthetase 2, mitochondrial (putative) (PARS2), nuclear gene encoding mitochondrial protein, mRNA.	161					prolyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|proline-tRNA ligase activity	p.A161S(1)		breast(1)|endometrium(3)|kidney(2)|lung(4)|ovary(2)|prostate(2)|skin(1)	15					L-Proline(DB00172)	GGCCGTAATGGCTTCCTCGTG	0.532000														119			73		0	0	1	0	0
TRIO	7204	broad.mit.edu	37	5	14462920	14462920	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:14462920G>T	uc003jff.3	+	35	5559	c.5553G>T	c.(5551-5553)ggG>ggT	p.G1851G	TRIO_uc003jfg.3_Non-coding_Transcript|TRIO_uc003jfh.1_Silent_p.G1500G	NM_007118	NP_009049	O75962	TRIO_HUMAN	Homo sapiens triple functional domain (PTPRF interacting) (TRIO), mRNA.	1851					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|protein serine/threonine kinase activity	p.G1851W(1)		NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					CCTCCTCGGGGATGCAGAGCT	0.612000														98			7		5.18039e-06	5.80246e-06	1	1	0
DCAKD	79877	broad.mit.edu	37	17	43111732	43111732	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:43111732G>A	uc002ihx.2	-	1	395	c.139C>T	c.(139-141)Cgg>Tgg	p.R47W	DCAKD_uc010daa.1_Missense_Mutation_p.R47W|DCAKD_uc010dab.1_Missense_Mutation_p.R47W|DCAKD_uc002ihy.3_Missense_Mutation_p.R47W	NM_024819	NP_079095	Q8WVC6	DCAKD_HUMAN	Homo sapiens dephospho-CoA kinase domain containing (DCAKD), transcript variant 1, mRNA.	47	DPCK.				coenzyme A biosynthetic process		ATP binding|dephospho-CoA kinase activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(2)|skin(1)	6		Prostate(33;0.155)				ACGATGCGCCGGTGGGCAGGG	0.617000														30			6		0	0	1	0	0
C2orf57	165100	broad.mit.edu	37	2	232457829	232457829	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:232457829C>T	uc002vrz.3	+	0	255	c.167C>T	c.(166-168)aCg>aTg	p.T56M		NM_152614	NP_689827	Q53QW1	CB057_HUMAN	Homo sapiens chromosome 2 open reading frame 57 (C2orf57), mRNA.	56										endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	19		Renal(207;0.025)|all_hematologic(139;0.0735)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;1.33e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)		TCCTTCAAGACGGCCACCCCC	0.542000														52			26		0	0	1	0	0
CCNL2	81669	broad.mit.edu	37	1	1334048	1334048	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:1334048C>T	uc001afi.2	-	1	324	c.292G>A	c.(292-294)Gcc>Acc	p.A98T	CCNL2_uc001afg.1_5'Flank|CCNL2_uc001afj.2_5'UTR|CCNL2_uc021oep.1_Missense_Mutation_p.A98T|LOC148413_uc001afm.3_5'Flank|LOC148413_uc009vkd.3_5'Flank	NM_030937	NP_112199	Q96S94	CCNL2_HUMAN	Homo sapiens cyclin L2 (CCNL2), transcript variant 1, mRNA.	98	Cyclin-like 1.				RNA processing|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	protein kinase binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)		GTAGCCATGGCCACCTAGAGT	0.517000														28			10		0	0	1	0	0
ACTL7B	10880	broad.mit.edu	37	9	111617633	111617633	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:111617633G>A	uc004bdi.3	-	0	643	c.578C>T	c.(577-579)tCg>tTg	p.S193L		NM_006686	NP_006677	Q9Y614	ACL7B_HUMAN	Homo sapiens actin-like 7B (ACTL7B), mRNA.	193						actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						CACCAGCCCCGAGGTCTTGCC	0.662000														32			5		0	0	1	0	0
FBXO47	494188	broad.mit.edu	37	17	37118182	37118182	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:37118182C>T	uc002hrc.2	-	2	500	c.300G>A	c.(298-300)gaG>gaA	p.E100E		NM_001008777	NP_001008777	Q5MNV8	FBX47_HUMAN	Homo sapiens F-box protein 47 (FBXO47), mRNA.	100										NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	20						TGTCAGGCAGCTCAAGGTTAT	0.383000														71			39		0	0	1	0	0
RGL2	5863	broad.mit.edu	37	6	33259951	33259951	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:33259951C>T	uc003odv.3	-	17	2822	c.2262G>A	c.(2260-2262)ccG>ccA	p.P754P	WDR46_uc011dra.2_5'Flank|WDR46_uc003ods.3_5'Flank|RGL2_uc003odu.3_Silent_p.P314P|RGL2_uc010jur.3_Silent_p.P314P|RGL2_uc003odw.3_Silent_p.P672P	NM_004761	NP_001230667	O15211	RGL2_HUMAN	Homo sapiens ral guanine nucleotide dissociation stimulator-like 2 (RGL2), transcript variant 1, mRNA.	754					Ras protein signal transduction|regulation of small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity			breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	34						CTCCCTCACTCGGAGGAGTTC	0.607000														22			33		0	0	1	0	0
ZC3H7A	29066	broad.mit.edu	37	16	11846564	11846564	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:11846564T>C	uc002dbk.3	-	20	2885	c.2687A>G	c.(2686-2688)cAg>cGg	p.Q896R	ZC3H7A_uc002dbh.3_Missense_Mutation_p.Q36R|ZC3H7A_uc002dbi.3_Missense_Mutation_p.Q84R|ZC3H7A_uc002dbj.3_Non-coding_Transcript|ZC3H7A_uc002dbl.3_Missense_Mutation_p.Q896R	NM_014153	NP_054872	Q8IWR0	Z3H7A_HUMAN	Homo sapiens zinc finger CCCH-type containing 7A (ZC3H7A), mRNA.	896						nucleus	nucleic acid binding|zinc ion binding			breast(2)|endometrium(3)|kidney(5)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(2)	25						GAAGCGGTGCTGCCAGCAGTA	0.468000														41			30		0	0	1	0	0
ITPKC	80271	broad.mit.edu	37	19	41235124	41235124	+	Nonsense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:41235124G>T	uc002oot.3	+	2	1306	c.1273G>T	c.(1273-1275)Gag>Tag	p.E425*		NM_025194	NP_079470	Q96DU7	IP3KC_HUMAN	Homo sapiens inositol-trisphosphate 3-kinase C (ITPKC), mRNA.	425						cytoplasm|nucleus	ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	14			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			CCAGGCAGGAGAGGATGGTCG	0.532000														30			4		0.0215528	0.0220531	1	1	0
PCNXL2	80003	broad.mit.edu	37	1	233394358	233394358	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:233394358G>A	uc001hvl.2	-	4	1485	c.1250C>T	c.(1249-1251)gCg>gTg	p.A417V	PCNXL2_uc009xfu.3_Non-coding_Transcript|PCNXL2_uc009xfv.1_Non-coding_Transcript	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA.	417						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				AGAACCGGCCGCCCCTGGGTT	0.572000														88			41		0	0	1	0	0
TAF9	6880	broad.mit.edu	37	5	68647899	68647899	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:68647899G>T	uc003jwa.3	-	4	600	c.508C>A	c.(508-510)Cat>Aat	p.H170N	TAF9_uc003jwb.3_Missense_Mutation_p.H167N	NM_016283	NP_057367	Q9Y3D8	KAD6_HUMAN	Homo sapiens TAF9 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 32kDa (TAF9), transcript variant 2, mRNA.	170						Cajal body	ATP binding|adenylate kinase activity|protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	8		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.1e-56)|Epithelial(20;9.54e-53)|all cancers(19;2.2e-48)|Lung(70;0.0176)		CAAGAGTTATGATCTTTGATC	0.358000														41			8		0.0381472	0.0388409	1	1	0
LRP1	4035	broad.mit.edu	37	12	57556241	57556241	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57556241C>A	uc001snd.3	+	13	2810	c.2344C>A	c.(2344-2346)Ctg>Atg	p.L782M		NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	782					aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TGTGACCCTTCTGCGCAGTGA	0.612000														48			29		4.22769e-11	5.1512e-11	1	1	0
PEAR1	375033	broad.mit.edu	37	1	156880106	156880106	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:156880106A>G	uc001fqj.1	+	13	1875	c.1759A>G	c.(1759-1761)Acc>Gcc	p.T587A	PEAR1_uc001fqk.1_Missense_Mutation_p.T212A	NM_001080471	NP_001073940	Q5VY43	PEAR1_HUMAN	Homo sapiens platelet endothelial aggregation receptor 1 (PEAR1), mRNA.	587	EGF-like 7.					integral to membrane				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GAATGGGGGCACCTGTCTCCC	0.637000											OREG0013890	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		148			65		0	0	1	0	0
FREM2	341640	broad.mit.edu	37	13	39438616	39438616	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:39438616G>T	uc001uwv.3	+	15	8165	c.7856G>T	c.(7855-7857)aGa>aTa	p.R2619I	FREM2_uc001uww.3_Missense_Mutation_p.R705I	NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	Homo sapiens FRAS1 related extracellular matrix protein 2 (FREM2), mRNA.	2619					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TTGTCCATCAGAGGTTCCACT	0.433000														65			34		4.65686e-17	5.91956e-17	1	1	0
TMEM123	114908	broad.mit.edu	37	11	102272907	102272907	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:102272907G>A	uc001pha.3	-	2	609	c.188C>T	c.(187-189)aCa>aTa	p.T63I	TMEM123_uc009yxc.3_Missense_Mutation_p.T44I	NM_052932	NP_443164	Q8N131	PORIM_HUMAN	Homo sapiens transmembrane protein 123 (TMEM123), mRNA.	63	Thr-rich.				oncosis	external side of plasma membrane|integral to membrane	receptor activity			breast(3)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	9	all_cancers(8;0.00027)|all_epithelial(12;0.0021)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0314)|Lung(13;0.109)|all cancers(10;0.12)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0149)		AGTTTCATTTGTATGGTCAGA	0.413000														60			50		0	0	1	0	0
CCNB3	85417	broad.mit.edu	37	X	50054133	50054133	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:50054133G>A	uc004dox.4	+	5	3262	c.2964G>A	c.(2962-2964)aaG>aaA	p.K988K	CCNB3_uc004doy.3_Silent_p.K988K|CCNB3_uc004doz.3_Intron|CCNB3_uc010njq.3_Intron	NM_033031	NP_149020	Q8WWL7	CCNB3_HUMAN	Homo sapiens cyclin B3 (CCNB3), transcript variant 3, mRNA.	988					cell division|meiosis|regulation of G2/M transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					TAACCAGCAAGTCCAGCATTG	0.478000														53			39		0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76487536	76487536	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:76487536C>A	uc010dhp.2	-	42	6783	c.6658G>T	c.(6658-6660)Gat>Tat	p.D2220Y		NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TTGTTGTCATCCATGACTGTG	0.607000														10			6		0.00116845	0.00123466	1	1	0
PDE3A	5139	broad.mit.edu	37	12	20803455	20803455	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:20803455C>A	uc001reh.2	+	13	2886	c.2846C>A	c.(2845-2847)gCt>gAt	p.A949D	PDE3A_uc021qwa.1_Missense_Mutation_p.A627D	NM_000921	NP_000912	Q14432	PDE3A_HUMAN	Homo sapiens phosphodiesterase 3A, cGMP-inhibited (PDE3A), transcript variant 1, mRNA.	949	Catalytic (By similarity).				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	ATAAAGTTGGCTGATATCAAT	0.333000														52			34		1.836e-18	2.35332e-18	1	1	0
NRIP3	56675	broad.mit.edu	37	11	9009126	9009126	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:9009126G>A	uc001mhg.2	-	2	505	c.391C>T	c.(391-393)Ctc>Ttc	p.L131F	NRIP3_uc010rbu.1_Missense_Mutation_p.L131F	NM_020645	NP_065696	Q9NQ35	NRIP3_HUMAN	Homo sapiens nuclear receptor interacting protein 3 (NRIP3), mRNA.	131					proteolysis		aspartic-type endopeptidase activity			large_intestine(1)|lung(4)|skin(1)|stomach(1)	7				Epithelial(150;4.77e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0241)		AAAGAGATGAGATTATATAGG	0.463000														49			42		0	0	1	0	0
PLCZ1	89869	broad.mit.edu	37	12	18837124	18837124	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:18837124A>C	uc021qvx.1	-	13	1872	c.1681T>G	c.(1681-1683)Tta>Gta	p.L561V	PLCZ1_uc001rdv.4_Missense_Mutation_p.L457V|PLCZ1_uc001rdw.4_Missense_Mutation_p.L302V|PLCZ1_uc001rdu.1_Missense_Mutation_p.L343V|PLCZ1_uc009zil.1_Non-coding_Transcript	NM_033123	NP_149114	Q86YW0	PLCZ1_HUMAN	Homo sapiens phospholipase C, zeta 1 (PLCZ1), mRNA.	561	C2.				intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					CCTGCTATTAAACCTTGACCT	0.333000														35			23		0	0	1	0	0
ZNF280D	54816	broad.mit.edu	37	15	56923983	56923983	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:56923983G>A	uc002adu.3	-	21	2870	c.2653C>T	c.(2653-2655)Cga>Tga	p.R885*	BC037892_uc002ads.3_5'Flank|ZNF280D_uc002adv.3_Nonsense_Mutation_p.R872*|ZNF280D_uc010bfq.3_Nonsense_Mutation_p.R885*|ZNF280D_uc002adt.3_Nonsense_Mutation_p.R126*|ZNF280D_uc010bfp.3_Non-coding_Transcript	NM_017661	NP_001002843	Q6N043	Z280D_HUMAN	Homo sapiens zinc finger protein 280D (ZNF280D), transcript variant 1, mRNA.	885					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R885P(1)		endometrium(5)|kidney(4)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	30				all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)		GATGCTAATCGCAAATCCTTA	0.343000														51			21		0	0	1	0	0
MFSD2A	84879	broad.mit.edu	37	1	40422876	40422876	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:40422876C>A	uc001cev.3	+	1	392	c.211C>A	c.(211-213)Cta>Ata	p.L71I	MFSD2A_uc010ojb.1_Missense_Mutation_p.L34I|MFSD2A_uc001ceu.3_Missense_Mutation_p.L71I|MFSD2A_uc010ojc.2_Intron|MFSD2A_uc009vvy.3_Non-coding_Transcript	NM_001136493	NP_001129965	Q8NA29	MFS2A_HUMAN	Homo sapiens major facilitator superfamily domain containing 2A (MFSD2A), transcript variant 1, mRNA.	71					transmembrane transport	endoplasmic reticulum membrane|integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						TCAGATCTACCTATTGGATGT	0.537000														191			17		5.03518e-11	6.129e-11	1	1	0
SEMA3A	10371	broad.mit.edu	37	7	83610649	83610649	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:83610649G>T	uc003uhz.3	-	13	1955	c.1640C>A	c.(1639-1641)cCc>cAc	p.P547H		NM_006080	NP_006071	Q14563	SEM3A_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A (SEMA3A), mRNA.	547					axon guidance	extracellular region|membrane	receptor activity			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						CTTTGCAGTGGGAAAATAGCG	0.408000														28			11		2.80697e-09	3.3309e-09	1	1	0
BTN2A2	10385	broad.mit.edu	37	6	26392884	26392884	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:26392884G>A	uc003nht.3	+	7	1394	c.1261G>A	c.(1261-1263)Gag>Aag	p.E421K	BTN2A2_uc003nhs.3_Intron|BTN2A2_uc003nhq.3_Missense_Mutation_p.E421K|BTN2A2_uc003nhr.3_Missense_Mutation_p.E305K|BTN2A2_uc011dkh.2_Missense_Mutation_p.E211K|BTN2A2_uc011dkg.2_3'UTR|BTN2A2_uc011dki.1_3'UTR	NM_001197237	NP_001184166	Q8WVV5	BT2A2_HUMAN	Homo sapiens butyrophilin, subfamily 2, member A2 (BTN2A2), transcript variant 3, mRNA.	421	B30.2/SPRY.				negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion	integral to membrane				breast(2)|endometrium(3)|large_intestine(5)|lung(13)	23						CTGGACCCTGGAGATGTTTGG	0.562000														35			16		0	0	1	0	0
EPS8L1	54869	broad.mit.edu	37	19	55590426	55590426	+	Splice_Site	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:55590426G>A	uc002qis.4	+	4	221	c.117_splice	c.e4+1	p.N39_splice	EPS8L1_uc010ess.1_Intron|EPS8L1_uc010est.1_Splice_Site_p.N39_splice|EPS8L1_uc010yfr.2_Intron|EPS8L1_uc010esu.1_Intron|EPS8L1_uc002qiu.3_5'Flank|EPS8L1_uc002qiv.3_5'Flank|EPS8L1_uc002qiw.3_5'Flank	NM_133180	NP_573441	Q8TE68	ES8L1_HUMAN	Homo sapiens EPS8-like 1 (EPS8L1), transcript variant 1, mRNA.	39						cytoplasm				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		CCCAGTCAATGTGAGTCTGGG	0.557000														28			17		0	0	1	0	0
DOT1L	84444	broad.mit.edu	37	19	2216658	2216658	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:2216658G>A	uc002lvc.1	+	5	951	c.184G>A	c.(184-186)Gca>Aca	p.A62T	DOT1L_uc002lvb.4_Missense_Mutation_p.A768T|AX746733_uc002lvd.1_5'Flank|DOT1L_uc002lve.1_Missense_Mutation_p.A62T	NM_032482	NP_115871	Q8TEK3	DOT1L_HUMAN	Homo sapiens DOT1-like, histone H3 methyltransferase (S. cerevisiae) (DOT1L), mRNA.	768						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGCCTAGCCGCACCCGACTA	0.697000														22			15		0	0	1	0	0
RB1CC1	9821	broad.mit.edu	37	8	53586799	53586799	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:53586799G>T	uc003xre.4	-	6	1166	c.608C>A	c.(607-609)cCa>cAa	p.P203Q	RB1CC1_uc003xrf.4_Missense_Mutation_p.P203Q	NM_014781	NP_055596	Q8TDY2	RBCC1_HUMAN	Homo sapiens RB1-inducible coiled-coil 1 (RB1CC1), transcript variant 1, mRNA.	203					autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ULK1-ATG13-FIP200 complex|cytosol|nucleus|pre-autophagosomal structure	protein binding			NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				CTCCAACAGTGGAATCTTGGC	0.373000														140			14		2.32078e-09	2.76369e-09	1	1	0
RABGAP1	23637	broad.mit.edu	37	9	125746809	125746809	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:125746809G>T	uc011lzh.2	+	2	330	c.196G>T	c.(196-198)Gat>Tat	p.D66Y	RABGAP1_uc004bnl.4_Non-coding_Transcript|RABGAP1_uc004bnm.1_Missense_Mutation_p.D66Y	NM_012197	NP_036329	Q9Y3P9	RBGP1_HUMAN	Homo sapiens RAB GTPase activating protein 1 (RABGAP1), mRNA.	66					cell cycle	centrosome|cytosol|microtubule associated complex	Rab GTPase activator activity|tubulin binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						AGAGCTAGCAGATGTACTGAT	0.458000														29			4		0.00909568	0.00940365	1	1	0
RASAL3	64926	broad.mit.edu	37	19	15575099	15575099	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:15575099C>T	uc002nbe.2	-	1	157	c.71G>A	c.(70-72)cGc>cAc	p.R24H		NM_022904	NP_075055	Q86YV0	RASL3_HUMAN	Homo sapiens RAS protein activator like 3 (RASAL3), mRNA.	24					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|skin(1)	18						TGTGTGCCAGCGGTAGGAAGT	0.711000														7			4		0	0	1	0	0
C7orf63	79846	broad.mit.edu	37	7	89936342	89936342	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:89936342C>A	uc010lep.3	+	19	2644	c.2393C>A	c.(2392-2394)tCt>tAt	p.S798Y	C7orf63_uc011khj.2_Missense_Mutation_p.S780Y|C7orf63_uc011khk.2_Missense_Mutation_p.S314Y	NM_001039706	NP_001034795	A5D8W1	CG063_HUMAN	Homo sapiens chromosome 7 open reading frame 63 (C7orf63), transcript variant 1, mRNA.	798							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						ATGGTTGCTTCTCTGCAAAGT	0.338000														20			22		2.21704e-12	2.7329e-12	1	1	0
ITGAL	3683	broad.mit.edu	37	16	30490414	30490414	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:30490414C>A	uc002dyi.4	+	4	506	c.330C>A	c.(328-330)gcC>gcA	p.A110A	ITGAL_uc010veu.1_Non-coding_Transcript|ITGAL_uc002dyj.4_Intron|ITGAL_uc010vev.2_Intron	NM_002209	NP_002200	P20701	ITAL_HUMAN	Homo sapiens integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) (ITGAL), transcript variant 1, mRNA.	110					T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	cell adhesion molecule binding|receptor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	TTCTTTAGGCCTGTGACCCTG	0.517000														45			10		1.76689e-08	2.07166e-08	1	1	0
CALCB	797	broad.mit.edu	37	11	15098968	15098968	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:15098968C>T	uc001mlx.1	+	3	434	c.361C>T	c.(361-363)Cgc>Tgc	p.R121C	CALCB_uc009ygr.1_Missense_Mutation_p.R121C	NM_000728	NP_000719	P10092	CALCB_HUMAN	Homo sapiens calcitonin-related polypeptide beta (CALCB), mRNA.	121					cellular calcium ion homeostasis|signal transduction|vasodilation	extracellular region|soluble fraction	neuropeptide hormone activity			endometrium(1)|large_intestine(1)|lung(1)|skin(2)	5						CTTTGGCAGGCGCCGCAGGGA	0.542000														18			11		0	0	1	0	0
FBXW10	10517	broad.mit.edu	37	17	18682533	18682533	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:18682533C>A	uc002gul.3	+	11	3340	c.3108C>A	c.(3106-3108)atC>atA	p.I1036I	FBXW10_uc002guj.3_Silent_p.I1026I|FBXW10_uc002guk.3_Silent_p.I1027I|FBXW10_uc010cqh.2_Silent_p.I974I|FAM18B1_uc002gum.2_5'Flank	NM_031456	NP_113644	Q5XX13	FBW10_HUMAN	Homo sapiens F-box and WD repeat domain containing 10 (FBXW10), mRNA.	1027										NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						TCAGGAAGATCAAAGGCCTGC	0.463000														30			22		1.22574e-08	1.44238e-08	1	1	0
OR2M5	127059	broad.mit.edu	37	1	248308747	248308747	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:248308747C>T	uc010pze.2	+	0	298	c.298C>T	c.(298-300)Caa>Taa	p.Q100*		NM_001004690	NP_001004690	A3KFT3	OR2M5_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 5 (OR2M5), mRNA.	100					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			TTGTGCCACACAAATTTTCTT	0.463000														314			17		0	0	1	0	0
LRBA	987	broad.mit.edu	37	4	151749600	151749600	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:151749600C>A	uc010ipj.3	-	29	5147	c.4903G>T	c.(4903-4905)Gat>Tat	p.D1635Y	LRBA_uc003ilt.4_Missense_Mutation_p.D294Y|LRBA_uc003ilu.4_Missense_Mutation_p.D1635Y	NM_006726	NP_006717	P50851	LRBA_HUMAN	Homo sapiens LPS-responsive vesicle trafficking, beach and anchor containing (LRBA), transcript variant 2, mRNA.	1635						Golgi apparatus|endoplasmic reticulum|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					CTGATTGCATCTGGGCCTGCA	0.483000														115			95		1.55521e-42	2.06836e-42	1	1	0
DIRAS1	148252	broad.mit.edu	37	19	2717757	2717757	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:2717757G>A	uc002lwf.3	-	1	206	c.48C>T	c.(46-48)ggC>ggT	p.G16G	DIRAS1_uc021umt.1_Silent_p.G16G	NM_145173	NP_660156	O95057	DIRA1_HUMAN	Homo sapiens DIRAS family, GTP-binding RAS-like 1 (DIRAS1), mRNA.	16					small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity			kidney(1)|lung(2)|ovary(2)|prostate(1)	6				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGCCCACGCCGCCCGCCCCGA	0.682000														22			12		0	0	1	0	0
BTN2A3P	54718	broad.mit.edu	37	6	26431066	26431066	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:26431066G>T	uc011dkl.1	+	5	1014	c.984G>T	c.(982-984)gaG>gaT	p.E328D	BTN2A3P_uc011dkm.2_Intron					Homo sapiens butyrophilin, subfamily 2, member A3, pseudogene (BTN2A3P), non-coding RNA.																		CCTCCAGGGAGAGCATTCCGG	0.527000														42			23		9.95505e-16	1.25642e-15	1	1	0
ALDH9A1	223	broad.mit.edu	37	1	165638676	165638676	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:165638676A>G	uc001gdh.1	-	6	1047	c.942T>C	c.(940-942)aaT>aaC	p.N314N	ALDH9A1_uc010pky.1_Silent_p.N220N|ALDH9A1_uc010pkz.1_Silent_p.N304N|ALDH9A1_uc010pla.1_Silent_p.N220N	NM_000696	NP_000687	P49189	AL9A1_HUMAN	Homo sapiens aldehyde dehydrogenase 9 family, member A1 (ALDH9A1), mRNA.	290					carnitine biosynthetic process|cellular aldehyde metabolic process|hormone metabolic process|neurotransmitter biosynthetic process	cytosol|plasma membrane	3-chloroallyl aldehyde dehydrogenase activity|4-trimethylammoniobutyraldehyde dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|aminobutyraldehyde dehydrogenase activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	21	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				NADH(DB00157)	CTCTTGTGCCATTACAGCAAA	0.348000														40			13		0	0	1	0	0
TMEM97	27346	broad.mit.edu	37	17	26653718	26653718	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:26653718G>A	uc002hat.3	+	2	575	c.430G>A	c.(430-432)Gtg>Atg	p.V144M		NM_014573	NP_055388	Q5BJF2	TMM97_HUMAN	Homo sapiens transmembrane protein 97 (TMEM97), mRNA.	144					cholesterol homeostasis|regulation of cell growth	integral to membrane|lysosome|nuclear membrane|plasma membrane|rough endoplasmic reticulum	protein binding			endometrium(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	6	all_lung(13;0.000238)|Lung NSC(42;0.000789)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		GTTAACCCTTGTGTCTGTCTA	0.403000														28			4		0	0	1	0	0
FAM117B	150864	broad.mit.edu	37	2	203630268	203630268	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:203630268C>A	uc010zhx.2	+	7	1561	c.1551C>A	c.(1549-1551)atC>atA	p.I517I		NM_173511	NP_775782	Q6P1L5	F117B_HUMAN	Homo sapiens family with sequence similarity 117, member B (FAM117B), mRNA.	517										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)	17						TCGTCAGCATCCTCAAGCCAC	0.498000														91			8		0.000274275	0.000294507	1	1	0
EPB41L5	57669	broad.mit.edu	37	2	120889207	120889207	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:120889207C>A	uc002tmg.3	+	17	1706	c.1515C>A	c.(1513-1515)acC>acA	p.T505T	EPB41L5_uc010fll.3_Silent_p.T505T|EPB41L5_uc010flm.3_Silent_p.T309T	NM_020909	NP_065960	Q9HCM4	E41L5_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1 like 5 (EPB41L5), transcript variant 1, mRNA.	505						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1)	26						TAAAAGACACCTCAGAGAAGC	0.438000														38			15		5.35267e-07	6.12308e-07	1	1	0
SLC25A23	79085	broad.mit.edu	37	19	6442163	6442163	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:6442163G>A	uc002mex.1	-	9	1372	c.1230C>T	c.(1228-1230)atC>atT	p.I410I	SLC25A23_uc010duu.2_Intron|SLC25A23_uc002mew.1_Intron|SLC25A23_uc002meu.3_Intron|SLC25A23_uc002mev.3_Intron|SLC25A23_uc010xjd.1_Silent_p.I171I	NM_024103	NP_077008	Q9BV35	SCMC3_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 23 (SLC25A23), nuclear gene encoding mitochondrial protein, mRNA.	410					transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding	p.I410I(2)		endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|pancreas(1)|skin(1)	17						GGCCACCCTCGATGGAGGCTG	0.667000														1			5		0	0	1	0	0
RIMKLB	57494	broad.mit.edu	37	12	8866595	8866595	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:8866595G>A	uc001qux.2	+	2	1395	c.133G>A	c.(133-135)Gtg>Atg	p.V45M	RIMKLB_uc009zgf.2_Non-coding_Transcript|RIMKLB_uc010sgl.1_Missense_Mutation_p.V45M|RIMKLB_uc001quw.2_Missense_Mutation_p.V45M	NM_020734	NP_065785	Q9ULI2	RIMKB_HUMAN	Homo sapiens ribosomal modification protein rimK-like family member B (RIMKLB), mRNA.	45					protein modification process	cytoplasm	ATP binding|acid-amino acid ligase activity|metal ion binding			central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						TAGGGCTGTGGTGATGGATGA	0.428000														17			18		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140347082	140347082	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140347082C>T	uc003lii.3	+	0	1336	c.731C>T	c.(730-732)tCt>tTt	p.S244F	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lif.2_Intron|PCDHAC2_uc003lie.1_Intron|PCDHAC2_uc003lih.2_Intron|PCDHAC2_uc011dag.2_Missense_Mutation_p.S244F	NM_018899	NP_061722	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha subfamily C, 2 (PCDHAC2), transcript variant 1, mRNA.	244	Cadherin 2.				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)			GCACAGATCTCTGTGCGTGTC	0.622000														50			24		0	0	1	0	0
XKRX	402415	broad.mit.edu	37	X	100183177	100183177	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:100183177G>T	uc004egn.2	-	0	722	c.117C>A	c.(115-117)ttC>ttA	p.F39L	XKRX_uc011mre.1_5'UTR	NM_212559	NP_997724	Q6PP77	XKR2_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related, X-linked (XKRX), mRNA.	39						integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(3)	22						AAAAGGTGGAGAAAAGGATGC	0.433000														124			11		2.80697e-09	3.3309e-09	1	1	0
C2orf29	55571	broad.mit.edu	37	2	101881457	101881457	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:101881457G>A	uc002taw.4	+	3	1065	c.983G>A	c.(982-984)cGa>cAa	p.R328Q		NM_017546	NP_060016	Q9UKZ1	CB029_HUMAN	Homo sapiens chromosome 2 open reading frame 29 (C2orf29), mRNA.	328					cell proliferation|nuclear-transcribed mRNA poly(A) tail shortening	cytosol				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(4)|ovary(3)|pancreas(1)|skin(1)	17						GAGATCAAACGAATAATGGCC	0.418000														28			26		0	0	1	0	0
SPATA2L	124044	broad.mit.edu	37	16	89764615	89764615	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:89764615G>A	uc002foj.3	-	2	489	c.402C>T	c.(400-402)agC>agT	p.S134S	SPATA2L_uc002fok.3_Silent_p.S134S	NM_152339	NP_689552	Q8IUW3	SPA2L_HUMAN	Homo sapiens spermatogenesis associated 2-like (SPATA2L), mRNA.	134								p.D133H(1)		breast(1)|cervix(1)|endometrium(1)|lung(2)|skin(1)	6		Lung NSC(15;0.00043)|all_lung(18;0.000665)|all_hematologic(23;0.0355)		BRCA - Breast invasive adenocarcinoma(80;0.0272)		TGAGCCGATGGCTGTCTCTGC	0.647000														100			33		0	0	1	0	0
ZNF142	7701	broad.mit.edu	37	2	219509500	219509500	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:219509500T>C	uc002vin.3	-	7	2175	c.1739A>G	c.(1738-1740)tAc>tGc	p.Y580C	ZNF142_uc002vil.3_Missense_Mutation_p.Y541C|ZNF142_uc010fvt.3_Missense_Mutation_p.Y417C|ZNF142_uc002vim.3_Missense_Mutation_p.Y417C	NM_001105537	NP_001099007	P52746	ZN142_HUMAN	Homo sapiens zinc finger protein 142 (ZNF142), mRNA.	580					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		GAAGGTGCGGTAGTCACAGAG	0.577000														44			18		0	0	1	0	0
HSP90AA1	3320	broad.mit.edu	37	14	102552240	102552240	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:102552240G>T	uc001yku.4	-	2	574	c.384C>A	c.(382-384)atC>atA	p.I128I	HSP90AA1_uc001ykv.4_Silent_p.I250I|HSP90AA1_uc001ykw.1_Intron|HSP90AA1_uc001ykx.1_Silent_p.I117I	NM_005348	NP_005339	P07900	HS90A_HUMAN	Homo sapiens heat shock protein 90kDa alpha (cytosolic), class A member 1 (HSP90AA1), transcript variant 2, mRNA.	128					G2/M transition of mitotic cell cycle|axon guidance|cellular chaperone-mediated protein complex assembly|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction	cytosol|melanosome|plasma membrane	ATP binding|ATPase activity|TPR domain binding|nitric-oxide synthase regulator activity|protein homodimerization activity|unfolded protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28					Rifabutin(DB00615)	CAATCATAGAGATATCTGCAC	0.438000														71			10		3.07112e-06	3.45634e-06	1	1	0
PRDM2	7799	broad.mit.edu	37	1	14106983	14106983	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:14106983G>A	uc001avi.3	+	7	3549	c.2693G>A	c.(2692-2694)gGc>gAc	p.G898D	PRDM2_uc001avg.3_Intron|PRDM2_uc001avh.3_Missense_Mutation_p.G898D|PRDM2_uc021ogk.1_Missense_Mutation_p.G661D|PRDM2_uc001avk.3_Missense_Mutation_p.G697D|PRDM2_uc009voe.3_Intron|PRDM2_uc009vof.3_Intron	NM_012231	NP_036363	Q13029	PRDM2_HUMAN	Homo sapiens PR domain containing 2, with ZNF domain (PRDM2), transcript variant 1, mRNA.	898						Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G898G(1)		endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		GAATATAATGGCATCGATTTA	0.478000														62			32		0	0	1	0	0
ZADH2	284273	broad.mit.edu	37	18	72913976	72913976	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:72913976A>G	uc002llx.3	-	1	797	c.529T>C	c.(529-531)Ttg>Ctg	p.L177L	ZADH2_uc010dqv.3_Silent_p.L54L	NM_175907	NP_787103	Q8N4Q0	ZADH2_HUMAN	Homo sapiens zinc binding alcohol dehydrogenase domain containing 2 (ZADH2), mRNA.	177						peroxisome	oxidoreductase activity|zinc ion binding			endometrium(3)|large_intestine(3)|lung(8)|skin(1)	15		Esophageal squamous(42;0.131)|Prostate(75;0.155)		READ - Rectum adenocarcinoma(2;0.0276)|BRCA - Breast invasive adenocarcinoma(31;0.216)		GCTGTCACCAAAACTTTTTTC	0.517000														245			168		0	0	1	0	0
MAP7D3	79649	broad.mit.edu	37	X	135314090	135314090	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:135314090G>A	uc004ezt.3	-	7	1247	c.1026C>T	c.(1024-1026)agC>agT	p.S342S	MAP7D3_uc004ezs.3_Silent_p.S307S|MAP7D3_uc011mwc.2_Silent_p.S324S|MAP7D3_uc010nsa.2_Silent_p.S300S	NM_024597	NP_078873	Q8IWC1	MA7D3_HUMAN	Homo sapiens MAP7 domain containing 3 (MAP7D3), transcript variant 1, mRNA.	342						cytoplasm|spindle				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					ACACGTCCACGCTCACCACAG	0.562000														107			63		0	0	1	0	0
TMOD3	29766	broad.mit.edu	37	15	52181338	52181338	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:52181338T>G	uc002abn.3	+	4	775	c.492T>G	c.(490-492)ttT>ttG	p.F164L	TMOD3_uc010bfc.1_Non-coding_Transcript	NM_014547	NP_055362	Q9NYL9	TMOD3_HUMAN	Homo sapiens tropomodulin 3 (ubiquitous) (TMOD3), mRNA.	164						cytoplasm|cytoskeleton	actin binding|tropomyosin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|stomach(1)	14				all cancers(107;0.00194)		AAGAACATTTTTCAAGTGAGT	0.299000														34			21		0	0	1	0	0
CRABP2	1382	broad.mit.edu	37	1	156670687	156670687	+	Silent	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:156670687A>C	uc001fpr.3	-	1	449	c.228T>G	c.(226-228)acT>acG	p.T76T	CRABP2_uc021pbi.1_Silent_p.T76T	NM_001878	NP_001869	P29373	RABP2_HUMAN	Homo sapiens cellular retinoic acid binding protein 2 (CRABP2), transcript variant 1, mRNA.	76					epidermis development|regulation of transcription, DNA-dependent|signal transduction	cytoplasm|nucleus	retinal binding|retinol binding|transporter activity			endometrium(2)|lung(3)|upper_aerodigestive_tract(1)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)				Alitretinoin(DB00523)	TCCCATCCACAGTCTGCTCCT	0.537000														46			18		0	0	1	0	0
SLC26A8	116369	broad.mit.edu	37	6	35943152	35943152	+	Splice_Site	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:35943152C>A	uc003olm.3	-	10	1398	c.1287_splice	c.e10+1	p.Q429_splice	SLC26A8_uc003oll.3_Splice_Site_p.Q324_splice|SLC26A8_uc003oln.3_Splice_Site_p.Q429_splice	NM_001193476	NP_443193	Q96RN1	S26A8_HUMAN	Homo sapiens solute carrier family 26, member 8 (SLC26A8), transcript variant 3, mRNA.	429					cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						TTCAACATACCTGTTGTCTTC	0.338000														15			6		0.00198382	0.00208369	1	1	0
COX15	1355	broad.mit.edu	37	10	101489459	101489459	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:101489459C>T	uc001kqb.4	-	1	740	c.123G>A	c.(121-123)ggG>ggA	p.G41G	COX15_uc001kqc.4_Silent_p.G41G|COX15_uc010qpj.2_5'UTR|CUTC_uc010qpk.2_5'Flank|CUTC_uc001kqd.4_5'Flank|CUTC_uc001kqe.4_5'Flank	NM_078470	NP_510870	Q7KZN9	COX15_HUMAN	Homo sapiens COX15 homolog, cytochrome c oxidase assembly protein (yeast) (COX15), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	41					heme a biosynthetic process|respiratory chain complex IV assembly|respiratory gaseous exchange	integral to membrane|mitochondrial respiratory chain	cytochrome-c oxidase activity			endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Colorectal(252;0.234)		Epithelial(162;3.08e-10)|all cancers(201;2.43e-08)		TGCTGTATTGCCCTGGCCTCA	0.532000														23			21		0	0	1	0	0
ZKSCAN2	342357	broad.mit.edu	37	16	25263243	25263243	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:25263243G>A	uc002dod.4	-	3	1199	c.792C>T	c.(790-792)aaC>aaT	p.N264N	ZKSCAN2_uc010vcl.2_Silent_p.N60N|ZKSCAN2_uc002doe.2_Silent_p.N264N	NM_001012981	NP_001012999	Q63HK3	ZKSC2_HUMAN	Homo sapiens zinc finger with KRAB and SCAN domains 2 (ZKSCAN2), mRNA.	264	KRAB.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		GGGAGACCACGTTCCCAACAT	0.448000														47			33		0	0	1	0	0
ISM2	145501	broad.mit.edu	37	14	77942399	77942399	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:77942399G>A	uc001xtz.3	-	6	1329	c.1255C>T	c.(1255-1257)Ctg>Ttg	p.L419L	ISM2_uc001xua.3_3'UTR|ISM2_uc001xty.3_Silent_p.L331L	NM_199296	NP_954993	Q6H9L7	ISM2_HUMAN	Homo sapiens isthmin 2 homolog (zebrafish) (ISM2), transcript variant 1, mRNA.	419	AMOP.					extracellular region				endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	21						ATCTGGCTCAGATACTTGATT	0.602000														43			15		0	0	1	0	0
FOXP2	93986	broad.mit.edu	37	7	114302238	114302238	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:114302238C>T	uc003vhb.3	+	13	2140	c.1766C>T	c.(1765-1767)aCa>aTa	p.T589I	FOXP2_uc003vgu.3_Non-coding_Transcript|FOXP2_uc003vgz.3_Missense_Mutation_p.T614I|FOXP2_uc003vha.3_Missense_Mutation_p.T497I|FOXP2_uc011kmv.2_Missense_Mutation_p.T588I|FOXP2_uc011kmu.2_Missense_Mutation_p.T606I|FOXP2_uc010ljz.2_Missense_Mutation_p.T404I|FOXP2_uc003vhe.1_Missense_Mutation_p.T159I	NM_014491	NP_055306	O15409	FOXP2_HUMAN	Homo sapiens forkhead box P2 (FOXP2), transcript variant 1, mRNA.	589					camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	DNA bending activity|chromatin binding|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA 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|zinc ion binding			breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						CAAAAGATAACAGGGTATGTT	0.413000														73			10		0	0	1	0	0
OTUD3	23252	broad.mit.edu	37	1	20234222	20234222	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:20234222G>A	uc001bcs.4	+	7	1299	c.1180G>A	c.(1180-1182)Gcc>Acc	p.A394T		NM_015207	NP_056022	Q5T2D3	OTUD3_HUMAN	Homo sapiens OTU domain containing 3 (OTUD3), mRNA.	394										breast(1)|kidney(2)|large_intestine(4)|lung(1)|skin(1)	9		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000276)|Lung NSC(340;0.000338)|Breast(348;0.000812)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.12e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.000408)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GAAGACCTTCGCCGCTCTCAA	0.542000														17			15		0	0	1	0	0
MEX3A	92312	broad.mit.edu	37	1	156046973	156046973	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:156046973C>T	uc001fnd.4	-	1	955	c.955G>A	c.(955-957)Gac>Aac	p.D319N		NM_001093725	NP_001087194	A1L020	MEX3A_HUMAN	Homo sapiens mex-3 homolog A (C. elegans) (MEX3A), mRNA.	319						cytoplasmic mRNA processing body|nucleus	RNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9	Hepatocellular(266;0.158)|all_neural(408;0.195)					CGCCAGGCGTCGGAGTAGCGG	0.642000														81			41		0	0	1	0	0
PTPN14	5784	broad.mit.edu	37	1	214576228	214576228	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:214576228G>A	uc001hkk.2	-	5	1232	c.579C>T	c.(577-579)caC>caT	p.H193H	PTPN14_uc021piy.1_5'UTR|PTPN14_uc010pty.2_Silent_p.H94H	NM_005401	NP_005392	Q15678	PTN14_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 14 (PTPN14), mRNA.	193	FERM.				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		TGCCTTACCTGTGGGCTTTGT	0.532000														150			16		0	0	1	0	0
KIT	3815	broad.mit.edu	37	4	55593703	55593703	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:55593703G>A	uc010igr.3	+	10	1856	c.1769G>A	c.(1768-1770)aGt>aAt	p.S590N	KIT_uc010igs.3_Missense_Mutation_p.S586N|KIT_uc010igt.2_Missense_Mutation_p.S39N	NM_000222	NP_000213	P10721	KIT_HUMAN	Homo sapiens v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog (KIT), transcript variant 1, mRNA.	590	Protein kinase.				male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity	p.S590N(6)|p.L589_S590ins13(4)|p.L589_S590ins15(4)|p.R588_L589ins12(3)|p.L589L(1)|p.L589_S590insKTLGAGAFGK(1)|p.L576_G592del(1)|p.S590_F591ins13(1)|p.V559_S590del(1)|p.(550_592)ins7(1)|p.L589_S590ins17(1)|p.L589_S590ins16(1)|p.R588_L589ins17(1)|p.R588_L589ins14(1)|p.R588_L589ins13(1)|p.S590_F591ins14(1)|p.R588_L589ins21(1)|p.L589P(1)|p.R588_L589insDHKWEFPRN(1)		NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	AACAGGCTGAGTTTTGGTCAG	0.413000		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors					40			28		0	0	1	0	0
MET	4233	broad.mit.edu	37	7	116435789	116435789	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:116435789T>C	uc003vij.3	+	19	4066	c.3879T>C	c.(3877-3879)acT>acC	p.T1293T	MET_uc010lkh.3_Silent_p.T1311T|MET_uc011knj.2_Silent_p.T863T	NM_000245	NP_000236	P08581	MET_HUMAN	Homo sapiens met proto-oncogene (hepatocyte growth factor receptor) (MET), transcript variant 2, mRNA.	1293	Interaction with RANBP9.|Protein kinase.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			TTGATATAACTGTTTACTTGT	0.453000			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)		OREG0003446	type=REGULATORY REGION|Gene=MET|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		144			179		0	0	1	0	0
SLC6A4	6532	broad.mit.edu	37	17	28544283	28544283	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:28544283C>T	uc002hey.4	-	5	1282	c.738G>A	c.(736-738)caG>caA	p.Q246Q		NM_001045	NP_001036	P31645	SC6A4_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, serotonin), member 4 (SLC6A4), mRNA.	246					response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	Rab GTPase binding|actin filament binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)	CCCCCAGGTCCTGGAGCCCCT	0.587000														85			7		0	0	1	0	0
NUP205	23165	broad.mit.edu	37	7	135307563	135307563	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:135307563G>A	uc003vsw.3	+	30	4400	c.4369G>A	c.(4369-4371)Gat>Aat	p.D1457N		NM_015135	NP_055950	Q92621	NU205_HUMAN	Homo sapiens nucleoporin 205kDa (NUP205), mRNA.	1457					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						AGCCCCTGAAGATGTATTTAG	0.403000														73			24		0	0	1	0	0
KCNU1	157855	broad.mit.edu	37	8	36793350	36793350	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:36793350C>A	uc010lvw.3	+	26	3449	c.3362C>A	c.(3361-3363)cCt>cAt	p.P1121H		NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN	Homo sapiens potassium channel, subfamily U, member 1 (KCNU1), mRNA.	1121						voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		TCTCAGATACCTTTAGGTGAC	0.388000														89			7		0.00198382	0.00208369	1	1	0
C9orf174	100499483	broad.mit.edu	37	9	100079447	100079447	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:100079447G>A	uc011lut.2	+	22	2451	c.1445G>A	c.(1444-1446)cGc>cAc	p.R482H	C9orf174_uc004axe.2_Missense_Mutation_p.R482H|C9orf174_uc011lus.2_Missense_Mutation_p.R300H|C9orf174_uc004axg.2_Missense_Mutation_p.R343H|C9orf174_uc010msm.1_Non-coding_Transcript|C9orf174_uc004axf.3_Missense_Mutation_p.R343H|C9orf174_uc011luv.1_Missense_Mutation_p.R340H	NM_020893	NP_065944	Q9P1Z9	CI174_HUMAN	Homo sapiens chromosome 9 open reading frame 174 (C9orf174), mRNA.	482						integral to membrane				breast(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(1)	16						AGCCGCCACCGCTGGCAAGGC	0.622000														32			13		0	0	1	0	0
ME3	10873	broad.mit.edu	37	11	86267742	86267742	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:86267742T>C	uc001pbz.3	-	2	574	c.320A>G	c.(319-321)tAc>tGc	p.Y107C	ME3_uc001pca.3_Missense_Mutation_p.Y107C|ME3_uc009yvk.3_Missense_Mutation_p.Y107C|ME3_uc010rtr.1_Non-coding_Transcript	NM_001014811	NP_001155058	Q16798	MAON_HUMAN	Homo sapiens malic enzyme 3, NADP(+)-dependent, mitochondrial (ME3), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	107					aerobic respiration|malate metabolic process|oxygen metabolic process|pyruvate metabolic process	mitochondrial matrix	NAD binding|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|metal ion binding			endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|skin(3)|stomach(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(157;4.34e-06)|all_hematologic(158;0.00252)			NADH(DB00157)	GAGAATGATGTACCTTGTAAA	0.522000														41			23		0	0	1	0	0
RER1	11079	broad.mit.edu	37	1	2328570	2328570	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:2328570C>T	uc001aje.2	+	2	288	c.97C>T	c.(97-99)Cta>Tta	p.L33L	RER1_uc001ajf.2_Silent_p.L33L	NM_007033	NP_008964	O15258	RER1_HUMAN	Homo sapiens RER1 retention in endoplasmic reticulum 1 homolog (S. cerevisiae) (RER1), mRNA.	33					retrograde vesicle-mediated transport, Golgi to ER	integral to Golgi membrane				endometrium(3)|kidney(1)	4	all_cancers(77;0.000247)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;5.35e-20)|all_lung(118;2.78e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.28e-37)|OV - Ovarian serous cystadenocarcinoma(86;8.29e-23)|GBM - Glioblastoma multiforme(42;4.71e-08)|Colorectal(212;4.73e-05)|COAD - Colon adenocarcinoma(227;0.00021)|Kidney(185;0.00116)|BRCA - Breast invasive adenocarcinoma(365;0.00459)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0182)|Lung(427;0.204)		TCAGTCCTGGCTAGACAAGTC	0.502000														52			24		0	0	1	0	0
LPAR4	2846	broad.mit.edu	37	X	78010459	78010459	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:78010459C>T	uc022bzj.1	+	0	93	c.93C>T	c.(91-93)tgC>tgT	p.C31C	LPAR4_uc010nme.3_Silent_p.C31C	NM_005296	NP_005287	Q99677	LPAR4_HUMAN	Homo sapiens lysophosphatidic acid receptor 4 (LPAR4), mRNA.	31						integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled	p.C31R(1)		breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						ATAATACTTGCATTGTTGATG	0.403000														122			82		0	0	1	0	0
HMGB3	3149	broad.mit.edu	37	X	150154607	150154607	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:150154607T>C	uc004fep.3	+	2	326	c.234T>C	c.(232-234)taT>taC	p.Y78Y	HMGB3_uc004feq.3_Silent_p.Y78Y|HMGB3_uc004fer.3_Silent_p.Y78Y	NM_005342	NP_005333	O15347	HMGB3_HUMAN	Homo sapiens high mobility group box 3 (HMGB3), mRNA.	78					DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding			endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					TGAAGGATTATGGACCAGCTA	0.413000														35			6		0	0	1	0	0
SFN	2810	broad.mit.edu	37	1	27189909	27189909	+	RNA	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:27189909G>A	uc010ofi.1	-	0		c.541C>T			BC016143_uc021ojq.1_Intron|SFN_uc001bnc.1_Missense_Mutation_p.S69N			P31947	1433S_HUMAN	Synthetic construct Homo sapiens gateway clone IMAGE:100016887 3' read SFN mRNA.						DNA damage response, signal transduction resulting in induction of apoptosis|negative regulation of caspase activity|release of cytochrome c from mitochondria	cytoplasm|extracellular space|nucleus	protein domain specific binding|protein kinase C inhibitor activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(2)	9		all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.1e-52)|Epithelial(14;2.31e-52)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)|GBM - Glioblastoma multiforme(114;0.0767)|Lung(427;0.215)		GAGCAGAAAAGCAACGAGGAG	0.627000														40			24		0	0	1	0	0
EIF4A1	1973	broad.mit.edu	37	17	7481533	7481533	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7481533T>C	uc002gho.2	+	20	3610	c.1047T>C	c.(1045-1047)ctT>ctC	p.L349L	EIF4A1_uc002ghr.1_Intron|EIF4A1_uc021tpc.1_5'Flank|CD68_uc002ghu.3_5'Flank|CD68_uc002ghv.3_5'Flank	NM_001416	NP_001407	P60842	IF4A1_HUMAN	Homo sapiens eukaryotic translation initiation factor 4A1 (EIF4A1), transcript variant 1, mRNA.	349	Helicase C-terminal.				nuclear-transcribed mRNA poly(A) tail shortening	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|RNA cap binding|mRNA binding|protein binding|translation initiation factor activity			NS(1)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	22						ACTATGACCTTCCCACCAACA	0.498000														50			4		0	0	1	0	0
UBR5	51366	broad.mit.edu	37	8	103341316	103341316	+	Splice_Site	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:103341316A>G	uc003ykr.2	-	11	1781	c.1326_splice	c.e11+1	p.K442_splice	UBR5_uc003yks.2_Splice_Site_p.K442_splice	NM_015902	NP_056986	O95071	UBR5_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 5 (UBR5), mRNA.	442					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	RNA binding|protein binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			AGTGTTTCATACCTTGTTATT	0.323000														81			51		0	0	1	0	0
RASAL2	9462	broad.mit.edu	37	1	178433521	178433521	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:178433521C>T	uc001glq.3	+	14	4125	c.3361C>T	c.(3361-3363)Cta>Tta	p.L1121L	RASAL2_uc001glr.3_Silent_p.L980L|RASAL2_uc009wxc.3_Silent_p.L494L	NM_170692	NP_733793	Q9UJF2	NGAP_HUMAN	Homo sapiens RAS protein activator like 2 (RASAL2), transcript variant 2, mRNA.	980					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						TGAGCAAAATCTAGATGAAGC	0.458000														27			14		0	0	1	0	0
FYB	2533	broad.mit.edu	37	5	39202952	39202952	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:39202952G>A	uc003jls.3	-	0	178	c.111C>T	c.(109-111)aaC>aaT	p.N37N	FYB_uc003jlt.3_Silent_p.N37N|FYB_uc003jlu.3_Silent_p.N37N|FYB_uc011cpl.2_Silent_p.N47N	NM_199335	NP_955367	O15117	FYB_HUMAN	Homo sapiens FYN binding protein (FYB), transcript variant 2, mRNA.	37					NLS-bearing substrate import into nucleus|T cell receptor signaling pathway|cell junction assembly|immune response|intracellular protein kinase cascade|protein phosphorylation	cytosol|nucleus	protein binding			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			TGTTGAATAAGTTCTTTCTTG	0.507000														31			14		0	0	1	0	0
EPHB2	2048	broad.mit.edu	37	1	23111559	23111559	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:23111559C>T	uc009vqj.1	+	2	946	c.801C>T	c.(799-801)acC>acT	p.T267T	EPHB2_uc001bge.3_Silent_p.T267T|EPHB2_uc001bgf.3_Silent_p.T267T|EPHB2_uc010odu.2_Silent_p.T267T	NM_017449	NP_059145	P29323	EPHB2_HUMAN	Homo sapiens EPH receptor B2 (EPHB2), transcript variant 1, mRNA.	267	Cys-rich.				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		AGAATGGCACCGTCTGCCGAG	0.622000														37			22		0	0	1	0	0
PCCA	5095	broad.mit.edu	37	13	101182405	101182405	+	Silent	SNP	C	T	T	rs150352833	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:101182405C>T	uc001voo.3	+	23	2278	c.2172C>T	c.(2170-2172)ctC>ctT	p.L724L	PCCA_uc010aga.3_Silent_p.L698L|PCCA_uc010tiz.2_Silent_p.L677L	NM_000282	NP_000273	P05165	PCCA_HUMAN	Homo sapiens propionyl CoA carboxylase, alpha polypeptide (PCCA), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	724	Biotinyl-binding.				fatty acid beta-oxidation	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|enzyme binding|metal ion binding|propionyl-CoA carboxylase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|prostate(1)|skin(2)	26	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Biotin(DB00121)	GGGATCTGCTCGTGGAGCTGG	0.408000														30			9		0	0	1	0	0
TNIK	23043	broad.mit.edu	37	3	170819285	170819285	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:170819285G>A	uc003fhh.2	-	21	2889	c.2544C>T	c.(2542-2544)agC>agT	p.S848S	TNIK_uc003fhi.2_Silent_p.S793S|TNIK_uc003fhj.2_Silent_p.S819S|TNIK_uc003fhk.2_Silent_p.S840S|TNIK_uc003fhl.2_Silent_p.S764S|TNIK_uc003fhm.2_Silent_p.S785S|TNIK_uc003fhn.2_Silent_p.S811S|TNIK_uc003fho.2_Silent_p.S756S|TNIK_uc003fhg.2_Silent_p.S26S	NM_015028	NP_055843	Q9UKE5	TNIK_HUMAN	Homo sapiens TRAF2 and NCK interacting kinase (TNIK), transcript variant 1, mRNA.	848	Mediates interaction with NEDD4.				Wnt receptor signaling pathway|actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	p.S848S(3)		cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			CATGGGTCTCGCTCTCTCCAT	0.488000														192			104		0	0	1	0	0
SHMT1	6470	broad.mit.edu	37	17	18233940	18233940	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:18233940C>T	uc002gta.3	-	9	1290	c.1100G>A	c.(1099-1101)gGc>gAc	p.G367D	SHMT1_uc002gsz.3_Missense_Mutation_p.G142D|SHMT1_uc002gtb.3_Missense_Mutation_p.G328D|SHMT1_uc010vxt.2_Missense_Mutation_p.G229D	NM_004169	NP_004160	P34896	GLYC_HUMAN	Homo sapiens serine hydroxymethyltransferase 1 (soluble) (SHMT1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	367					L-serine catabolic process|carnitine biosynthetic process|folic acid metabolic process|one-carbon metabolic process|purine base biosynthetic process	cytosol|nucleus	glycine hydroxymethyltransferase activity|protein homodimerization activity|pyridoxal phosphate binding	p.G367C(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)	13					Glycine(DB00145)|Mimosine(DB01055)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	ACCATCTGTGCCTTTGGAACG	0.483000														29			17		0	0	1	0	0
TMED8	283578	broad.mit.edu	37	14	77809722	77809722	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:77809722G>A	uc001xto.1	-	4	559	c.559C>T	c.(559-561)Cgt>Tgt	p.R187C	TMED8_uc001xtn.1_Missense_Mutation_p.R31C	NM_213601	NP_998766	Q6PL24	TMED8_HUMAN	Homo sapiens transmembrane emp24 protein transport domain containing 8 (TMED8), mRNA.	187	GOLD.				transport	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)	15			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)		ACCTCACCACGCTTCACCACC	0.537000														19			8		0	0	1	0	0
KIF1A	547	broad.mit.edu	37	2	241676556	241676556	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:241676556C>T	uc010fzk.3	-	37	4178	c.3931G>A	c.(3931-3933)Gag>Aag	p.E1311K	KIF1A_uc002vzy.3_Missense_Mutation_p.E1210K|KIF1A_uc002vzz.2_Missense_Mutation_p.E1311K	NM_001244008	NP_001230937	Q12756	KIF1A_HUMAN	Homo sapiens kinesin family member 1A (KIF1A), transcript variant 1, mRNA.	1210					anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		ATCAGGGACTCGTCGGTCTCT	0.612000														70			36		0	0	1	0	0
PRICKLE2	166336	broad.mit.edu	37	3	64184562	64184562	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:64184562G>A	uc003dmf.3	-	1	628	c.42C>T	c.(40-42)agC>agT	p.S14S		NM_198859	NP_942559	Q7Z3G6	PRIC2_HUMAN	Homo sapiens prickle homolog 2 (Drosophila) (PRICKLE2), mRNA.	14						cytoplasm|nuclear membrane	zinc ion binding			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		ACATGAGTTTGCTGATGGTCT	0.542000														43			4		0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48280594	48280594	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:48280594C>T	uc003toq.2	+	9	1217	c.1193C>T	c.(1192-1194)aCt>aTt	p.T398I	ABCA13_uc010kyr.2_5'UTR	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	398					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GCTCTGCACACTGCACTGCTC	0.473000														115			31		0	0	1	0	0
SEPT14	346288	broad.mit.edu	37	7	55910781	55910781	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:55910781C>T	uc003tqz.2	-	4	529	c.412G>A	c.(412-414)Gcc>Acc	p.A138T		NM_207366	NP_997249	Q6ZU15	SEP14_HUMAN	Homo sapiens septin 14 (SEPT14), mRNA.	138					cell cycle|cell division	septin complex	GTP binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TGAAGATAGGCCTCAAATTGG	0.358000														12			7		0	0	1	0	0
LRRC4C	57689	broad.mit.edu	37	11	40135961	40135961	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:40135961G>A	uc021qgf.1	-	0	1882	c.1882C>T	c.(1882-1884)Cga>Tga	p.R628*	LRRC4C_uc001mxc.1_Nonsense_Mutation_p.R624*|LRRC4C_uc001mxd.1_Nonsense_Mutation_p.R624*|LRRC4C_uc001mxa.1_Nonsense_Mutation_p.R628*|LRRC4C_uc001mxb.1_Nonsense_Mutation_p.R624*	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN	Homo sapiens leucine rich repeat containing 4C (LRRC4C), mRNA.	628					regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				GAGTTCATTCGGATCAATAAC	0.303000														55			26		0	0	1	0	0
PRKCA	5578	broad.mit.edu	37	17	64683231	64683231	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:64683231C>T	uc002jfo.1	+	6	637	c.145C>T	c.(145-147)Cga>Tga	p.R49*	PRKCA_uc002jfp.1_Nonsense_Mutation_p.R178*			P17252	KPCA_HUMAN	Homo sapiens protein kinase C, alpha (PRKCA), mRNA.	178					activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission	cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane	ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding	p.R178*(1)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Phosphatidylserine(DB00144)|Vitamin E(DB00163)	CTTCACAGTACGAGATGCAAA	0.388000														73			45		0	0	1	0	0
GPBAR1	151306	broad.mit.edu	37	2	219128211	219128211	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:219128211C>T	uc021vwu.1	+	0	764	c.764C>T	c.(763-765)cCg>cTg	p.P255L	GPBAR1_uc010zjx.1_Missense_Mutation_p.P255L|GPBAR1_uc010zjw.1_Missense_Mutation_p.P255L|GPBAR1_uc010zjy.1_Missense_Mutation_p.P255L	NM_170699	NP_733800	Q8TDU6	GPBAR_HUMAN	Homo sapiens G protein-coupled bile acid receptor 1 (GPBAR1), transcript variant 3, mRNA.	255						integral to membrane|plasma membrane	G-protein coupled receptor activity			cervix(1)|kidney(1)|large_intestine(1)|ovary(1)	4		Renal(207;0.0474)		Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GAGCAGCGCCCGCCACTGGGG	0.667000														9			3		0	0	1	0	0
FAM154B	283726	broad.mit.edu	37	15	82574798	82574798	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:82574798C>T	uc002bgv.3	+	2	661	c.592C>T	c.(592-594)Ctc>Ttc	p.L198F	FAM154B_uc010unr.2_Missense_Mutation_p.L183F|FAM154B_uc010uns.2_Non-coding_Transcript	NM_001008226	NP_001008227	Q658L1	F154B_HUMAN	Homo sapiens family with sequence similarity 154, member B (FAM154B), mRNA.	198										autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)	19						AACTGCAAAACTCTGCAGACC	0.463000														30			23		0	0	1	0	0
BFSP1	631	broad.mit.edu	37	20	17474837	17474837	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:17474837G>T	uc002wpo.3	-	7	1919	c.1880C>A	c.(1879-1881)tCt>tAt	p.S627Y	BFSP1_uc002wpp.3_Missense_Mutation_p.S502Y|BFSP1_uc010zrn.2_Missense_Mutation_p.S488Y|BFSP1_uc010zro.2_Missense_Mutation_p.S488Y	NM_001195	NP_001186	Q12934	BFSP1_HUMAN	Homo sapiens beaded filament structural protein 1, filensin (BFSP1), transcript variant 1, mRNA.	627	Tail.					cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)|stomach(1)	18						CTTCTCGATAGATTCCACCAC	0.483000														90			52		2.69774e-35	3.57598e-35	1	1	0
TCF7L2	6934	broad.mit.edu	37	10	114710691	114710691	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:114710691C>A	uc021pyi.1	+	0	683	c.176C>A	c.(175-177)tCc>tAc	p.S59Y	TCF7L2_uc001lah.3_Missense_Mutation_p.S59Y|TCF7L2_uc010qro.2_Missense_Mutation_p.S59Y|TCF7L2_uc001lae.4_Missense_Mutation_p.S59Y|TCF7L2_uc010qrm.2_Missense_Mutation_p.S59Y|TCF7L2_uc010qrn.2_Missense_Mutation_p.S59Y|TCF7L2_uc021pyg.1_5'UTR|TCF7L2_uc021pyh.1_Missense_Mutation_p.S59Y|TCF7L2_uc021pyj.1_Missense_Mutation_p.S59Y|TCF7L2_uc021pyk.1_Missense_Mutation_p.S59Y|TCF7L2_uc021pyl.1_Missense_Mutation_p.S59Y|TCF7L2_uc010qrp.2_Missense_Mutation_p.S59Y|TCF7L2_uc021pym.1_Missense_Mutation_p.S59Y|TCF7L2_uc021pyn.1_Missense_Mutation_p.S59Y|TCF7L2_uc021pyo.1_Missense_Mutation_p.S59Y|TCF7L2_uc021pyp.1_Missense_Mutation_p.S59Y|TCF7L2_uc010qrq.2_Missense_Mutation_p.S59Y|TCF7L2_uc001lac.4_Missense_Mutation_p.S59Y|TCF7L2_uc010qrk.2_Missense_Mutation_p.S59Y|TCF7L2_uc001lad.4_Missense_Mutation_p.S59Y|TCF7L2_uc001lag.4_Missense_Mutation_p.S59Y|TCF7L2_uc001laf.4_Missense_Mutation_p.S59Y|TCF7L2_uc010qrl.2_Missense_Mutation_p.S59Y|TCF7L2_uc010qrr.2_5'Flank|TCF7L2_uc010qrs.2_5'Flank|TCF7L2_uc010qrt.2_5'Flank	NM_030756	NP_110383	Q9NQB0	TF7L2_HUMAN	Homo sapiens transcription factor 7-like 2 (T-cell specific, HMG-box) (TCF7L2), transcript variant 2, mRNA.	59					anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus	PML body|beta-catenin-TCF7L2 complex|protein-DNA complex	armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding		VTI1A/TCF7L2(8)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		CAAAACAGCTCCTCCGATTCC	0.502000			T	VTI1A	colorectal									16			10		1.58986e-06	1.80238e-06	1	1	0
BSN	8927	broad.mit.edu	37	3	49693336	49693336	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49693336G>A	uc003cxe.4	+	4	6461	c.6347G>A	c.(6346-6348)gGc>gAc	p.G2116D		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.	2116					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		GGGCGGCATGGCAGTGGTGGT	0.642000														42			11		0	0	1	0	0
SSPN	8082	broad.mit.edu	37	12	26383931	26383931	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:26383931A>G	uc001rhe.3	+	2	754	c.654A>G	c.(652-654)aaA>aaG	p.K218K	SSPN_uc001rhd.3_Silent_p.K115K|SSPN_uc009zjf.2_Intron|SSPN_uc001rhf.3_Intron	NM_005086	NP_001129295	Q14714	SSPN_HUMAN	Homo sapiens sarcospan (Kras oncogene-associated gene) (SSPN), transcript variant 1, mRNA.	218					cell adhesion|muscle contraction	cell junction|dystrophin-associated glycoprotein complex|integral to plasma membrane|postsynaptic membrane|sarcolemma|transport vesicle				kidney(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	10	Colorectal(261;0.0847)					TGATGTGGAAACATAGGTACC	0.488000														48			33		0	0	1	0	0
KRT5	3852	broad.mit.edu	37	12	52912800	52912800	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:52912800C>T	uc001san.3	-	1	863	c.700G>A	c.(700-702)Gtg>Atg	p.V234M	KRT5_uc009zmh.3_Missense_Mutation_p.V234M	NM_000424	NP_000415	P13647	K2C5_HUMAN	Homo sapiens keratin 5 (KRT5), mRNA.	234	Coil 1B.|Rod.				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		CGTTCCCCCACGATGCTGTCC	0.597000														84			61		0	0	1	0	0
ZNF662	389114	broad.mit.edu	37	3	42956680	42956680	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:42956680A>C	uc003cmk.2	+	3	1379	c.1193A>C	c.(1192-1194)aAg>aCg	p.K398T	ZNF662_uc003cmi.2_Missense_Mutation_p.K372T|ZNF662_uc003cmj.2_Missense_Mutation_p.K264T	NM_001134656	NP_001128128	Q6ZS27	ZN662_HUMAN	Homo sapiens zinc finger protein 662 (ZNF662), transcript variant 2, mRNA.	372					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.217)		TTCTTTTGCAAGGCACATCTT	0.443000														53			8		0	0	1	0	0
ABCC10	89845	broad.mit.edu	37	6	43415025	43415025	+	Missense_Mutation	SNP	C	T	T	rs144841064		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:43415025C>T	uc003ouy.1	+	16	3799	c.3584C>T	c.(3583-3585)aCg>aTg	p.T1195M	ABCC10_uc003ouz.1_Missense_Mutation_p.T1167M|ABCC10_uc010jyo.1_Missense_Mutation_p.T301M	NM_001198934	NP_001185863	Q5T3U5	MRP7_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 10 (ABCC10), transcript variant MRP7, mRNA.	1195	ABC transmembrane type-1 2.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			CTGTCCCTGACGGGCCTGCTC	0.627000														60			33		0	0	1	0	0
OR5F1	338674	broad.mit.edu	37	11	55761668	55761668	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:55761668G>T	uc010riv.2	-	0	434	c.434C>A	c.(433-435)gCa>gAa	p.A145E		NM_003697	NP_003688	O95221	OR5F1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily F, member 1 (OR5F1), mRNA.	145					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M144I(2)		endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					AGCCCCGGCTGCCATTTTTAG	0.502000														25			26		3.08376e-08	3.60755e-08	1	1	0
EPHB3	2049	broad.mit.edu	37	3	184297592	184297592	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:184297592G>A	uc003foz.3	+	10	2479	c.2042G>A	c.(2041-2043)aGc>aAc	p.S681N		NM_004443	NP_004434	P54753	EPHB3_HUMAN	Homo sapiens EPH receptor B3 (EPHB3), mRNA.	681	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			GACTTCCTAAGCGAGGCCTCC	0.577000														24			27		0	0	1	0	0
KCNH8	131096	broad.mit.edu	37	3	19498417	19498417	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:19498417C>T	uc003cbk.1	+	10	2178	c.1983C>T	c.(1981-1983)ttC>ttT	p.F661F	KCNH8_uc010hex.1_Silent_p.F122F	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 8 (KCNH8), mRNA.	661						integral to membrane	two-component sensor activity	p.F661F(2)|p.F661S(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						CTCACAAATTCGTGGAAGACA	0.413000														28			21		0	0	1	0	0
PPP3CA	5530	broad.mit.edu	37	4	101947077	101947077	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:101947077G>T	uc011cen.1	-	13	2186	c.1511C>A	c.(1510-1512)aCc>aAc	p.T504N	PPP3CA_uc003hvu.2_Missense_Mutation_p.T494N|PPP3CA_uc010ilj.2_Missense_Mutation_p.T452N|PPP3CA_uc003hvt.2_Missense_Mutation_p.T481N|PPP3CA_uc003hvs.2_Missense_Mutation_p.T437N|PPP3CA_uc010ilk.2_Missense_Mutation_p.T272N	NM_000944	NP_000935	Q08209	PP2BA_HUMAN	Homo sapiens protein phosphatase 3, catalytic subunit, alpha isozyme (PPP3CA), transcript variant 1, mRNA.	504					protein dephosphorylation	calcineurin complex|cytosol|nucleus	calcium ion binding|calmodulin binding			breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(123;6.79e-08)		AGTCTCTGAGGTGAGAGCCTT	0.448000														130			10		1.58986e-06	1.80238e-06	1	1	0
FAM46A	55603	broad.mit.edu	37	6	82459934	82459934	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:82459934C>A	uc003pjf.3	-	2	1177	c.864G>T	c.(862-864)caG>caT	p.Q288H	FAM46A_uc003pjg.3_Missense_Mutation_p.Q269H	NM_017633	NP_060103	Q96IP4	FA46A_HUMAN	Homo sapiens family with sequence similarity 46, member A (FAM46A), mRNA.	269										endometrium(2)|large_intestine(3)|lung(5)|skin(1)|urinary_tract(1)	12		all_cancers(76;6.74e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000282)|all_epithelial(107;0.0104)		BRCA - Breast invasive adenocarcinoma(397;0.0428)		CAAAGGCTTCCTGGAAATCGC	0.478000														39			16		1.56452e-12	1.93189e-12	1	1	0
ADAMTSL3	57188	broad.mit.edu	37	15	84706505	84706505	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:84706505T>G	uc002bjz.4	+	29	5247	c.5023T>G	c.(5023-5025)Tgt>Ggt	p.C1675G		NM_207517	NP_997400	P82987	ATL3_HUMAN	Homo sapiens ADAMTS-like 3 (ADAMTSL3), mRNA.	1675	PLAC.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			TCTTAATTTGTGTTCTCTAGA	0.383000														108			9		0	0	1	0	0
FARP1	10160	broad.mit.edu	37	13	99047635	99047635	+	Missense_Mutation	SNP	C	T	T	rs149057508		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:99047635C>T	uc001vnh.3	+	12	1558	c.1319C>T	c.(1318-1320)gCg>gTg	p.A440V	FARP1_uc001vnj.3_Missense_Mutation_p.A440V	NM_005766	NP_005757	Q9Y4F1	FARP1_HUMAN	Homo sapiens FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived) (FARP1), transcript variant 1, mRNA.	440					regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	Rho guanyl-nucleotide exchange factor activity|cytoskeletal protein binding	p.Q439H(1)		breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			AACAAGCAGGCGGACGGAGCC	0.682000														18			17		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179467258	179467258	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179467258G>T	uc021vsy.1	-	231	47392	c.47167C>A	c.(47167-47169)Cta>Ata	p.L15723I	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.L9418I|TTN_uc021vta.1_Missense_Mutation_p.L9351I|TTN_uc021vtb.1_Missense_Mutation_p.L9226I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	16650	Ig-like 98.						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)			TTCCATCCTAGTGAGATGCTT	0.398000														9			7		0.00198382	0.00208369	1	1	0
UGT2A1	10941	broad.mit.edu	37	4	70512793	70512793	+	Silent	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:70512793A>C	uc011caq.2	-	1	686	c.570T>G	c.(568-570)ccT>ccG	p.P190P	UGT2A1_uc010ihu.3_Silent_p.P190P|UGT2A1_uc003hem.4_Silent_p.P190P|UGT2A1_uc010iht.3_Silent_p.P190P	NM_001252274	NP_001239203	Q9Y4X1	UD2A1_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus (UGT2A1), transcript variant 2, mRNA.	190					detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						GAACATAGGAAGGAGGGTATG	0.408000														62			8		0	0	1	0	0
TRPV6	55503	broad.mit.edu	37	7	142569693	142569693	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:142569693G>A	uc003wbx.2	-	14	2174	c.1945C>T	c.(1945-1947)Cag>Tag	p.Q649*	TRPV6_uc003wbw.1_Nonsense_Mutation_p.Q435*|TRPV6_uc010lou.1_Nonsense_Mutation_p.Q520*	NM_018646	NP_061116	Q9H1D0	TRPV6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 6 (TRPV6), mRNA.	649					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					TGGAAGGCCTGTGCGTAGCGT	0.572000														86			27		0	0	1	0	0
FIBCD1	84929	broad.mit.edu	37	9	133799639	133799639	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:133799639G>A	uc004bzz.3	-	2	942	c.697C>T	c.(697-699)Cgg>Tgg	p.R233W	FIBCD1_uc011mcc.2_Missense_Mutation_p.R233W	NM_032843	NP_116232	Q8N539	FBCD1_HUMAN	Homo sapiens fibrinogen C domain containing 1 (FIBCD1), transcript variant 1, mRNA.	233					signal transduction	extracellular space|integral to membrane	chitin binding|metal ion binding|receptor binding			kidney(1)|large_intestine(3)|lung(2)|prostate(5)|urinary_tract(1)	12	all_hematologic(7;0.0028)			OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019)		GCACAGCCCCGGGGCCGGGTT	0.731000														4			3		0	0	1	0	0
BAZ2B	29994	broad.mit.edu	37	2	160239235	160239235	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:160239235G>T	uc002uao.3	-	24	4245	c.3840C>A	c.(3838-3840)ccC>ccA	p.P1280P	BAZ2B_uc002uap.3_Silent_p.P1244P	NM_013450	NP_038478	Q9UIF8	BAZ2B_HUMAN	Homo sapiens bromodomain adjacent to zinc finger domain, 2B (BAZ2B), mRNA.	1280					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						GTGTGCCCAAGGGATGCTGCT	0.463000														42			4		2.56e-06	2.88678e-06	1	1	0
SLFN12L	100506736	broad.mit.edu	37	17	33802201	33802201	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:33802201A>C	uc002hjn.3	-	4	2309	c.1595T>G	c.(1594-1596)aTt>aGt	p.I532S	SLFN12L_uc021tuy.1_Missense_Mutation_p.I503S	NM_001195790	NP_001182719	Q6IEE8	SN12L_HUMAN	Homo sapiens schlafen family member 12-like (SLFN12L), mRNA.	535						integral to membrane	ATP binding			breast(1)|endometrium(4)|kidney(5)|large_intestine(2)|lung(3)|ovary(1)	16						GTAACCACCAATTTTTGCCAG	0.403000														53			24		0	0	1	0	0
IGHG1	3500	broad.mit.edu	37	14	106207954	106207954	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:106207954G>A	uc001yse.3	-	4	893	c.447C>T	c.(445-447)tcC>tcT	p.S149S	abParts_uc021ser.1_Non-coding_Transcript|DKFZp686O16217_uc001yrs.3_Intron|DKFZp686O16217_uc001yrt.3_Intron|IGHE_uc001yrw.1_Intron|IGHE_uc001yrx.2_Intron|IGHE_uc001yrz.2_Intron					RecName: Full=Ig gamma-1 chain C region;																		AGGAGCCGTCGGAGTCCAGCA	0.597000														110			39		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	142004838	142004838	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:142004838G>A	uc002tvj.1	-	4	1521	c.549C>T	c.(547-549)ggC>ggT	p.G183G	LRP1B_uc010fnl.1_Intron	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	183	EGF-like 2; calcium-binding (Potential).				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.E182D(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GCATTAGGTAGCCTTCCACAC	0.378000										TSP Lung(27;0.18)				87			8		0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	131859595	131859595	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:131859595T>C	uc003vra.4	-	20	4188	c.3959A>G	c.(3958-3960)tAc>tGc	p.Y1320C		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	1320						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CCGCATGGTGTAAGTTCTATA	0.577000														122			37		0	0	1	0	0
ZBTB38	253461	broad.mit.edu	37	3	141161619	141161619	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:141161619C>T	uc010hup.3	+	1	439	c.392C>T	c.(391-393)tCc>tTc	p.S131F	ZBTB38_uc003etw.3_Missense_Mutation_p.S130F|ZBTB38_uc010hun.3_Missense_Mutation_p.S127F|ZBTB38_uc010huo.3_Missense_Mutation_p.S130F|ZBTB38_uc003ety.3_Missense_Mutation_p.S130F|ZBTB38_uc021xes.1_Missense_Mutation_p.S130F	NM_001080412	NP_001073881	Q8NAP3	ZBT38_HUMAN	Homo sapiens zinc finger and BTB domain containing 38 (ZBTB38), mRNA.	130					positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						TTCTCAAATTCCCCGGGTCCC	0.433000														28			19		0	0	1	0	0
MAP4K1	11184	broad.mit.edu	37	19	39108527	39108527	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:39108527G>A	uc002oix.1	-	0	117	c.9C>T	c.(7-9)gtC>gtT	p.V3V	MAP4K1_uc002oiy.1_Silent_p.V3V|EIF3K_uc010xuh.2_5'Flank|EIF3K_uc002oiz.1_5'Flank	NM_007181	NP_009112	Q92918	M4K1_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase kinase 1 (MAP4K1), transcript variant 2, mRNA.	3					activation of JUN kinase activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CAGGGTCCACGACGTCCATCC	0.642000														38			26		0	0	1	0	0
TSHR	7253	broad.mit.edu	37	14	81606117	81606117	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:81606117C>T	uc001xvd.1	+	8	943	c.787C>T	c.(787-789)Ctt>Ttt	p.L263F		NM_000369	NP_000360	P16473	TSHR_HUMAN	Homo sapiens thyroid stimulating hormone receptor (TSHR), transcript variant 1, mRNA.	263					cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	TCTTAAGAAACTTCCACTTTC	0.483000			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism							24			22		0	0	1	0	0
DFNA5	1687	broad.mit.edu	37	7	24749948	24749948	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:24749948C>T	uc010kus.1	-	5	845	c.757G>A	c.(757-759)Gtc>Atc	p.V253I	DFNA5_uc003sxa.1_Missense_Mutation_p.V253I|DFNA5_uc010kut.1_Missense_Mutation_p.V89I	NM_001127453	NP_001120926	O60443	DFNA5_HUMAN	Homo sapiens deafness, autosomal dominant 5 (DFNA5), transcript variant 2, mRNA.	253					sensory perception of sound					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						TCCAGGTAGACAGAGTCAATT	0.468000														38			65		0	0	1	0	0
ZMIZ2	83637	broad.mit.edu	37	7	44802966	44802966	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:44802966G>A	uc003tlr.3	+	12	1937	c.1814G>A	c.(1813-1815)cGc>cAc	p.R605H	ZMIZ2_uc003tlq.3_Missense_Mutation_p.R547H|ZMIZ2_uc003tls.3_Missense_Mutation_p.R579H|ZMIZ2_uc003tlt.3_Missense_Mutation_p.R228H|ZMIZ2_uc010kyj.3_Missense_Mutation_p.R127H|ZMIZ2_uc003tlu.3_5'Flank	NM_031449	NP_113637	Q8NF64	ZMIZ2_HUMAN	Homo sapiens zinc finger, MIZ-type containing 2 (ZMIZ2), transcript variant 1, mRNA.	605					positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						ATCACCTTCCGCAGGATCCAG	0.582000														156			9		0	0	1	0	0
USP43	124739	broad.mit.edu	37	17	9632095	9632095	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:9632095G>T	uc010cod.3	+	14	3160	c.3160G>T	c.(3160-3162)Ggc>Tgc	p.G1054C	USP43_uc002gma.4_Missense_Mutation_p.G743C|USP43_uc010vva.2_Missense_Mutation_p.G1049C|USP43_uc010coe.3_Missense_Mutation_p.G851C|USP43_uc002gmc.4_Missense_Mutation_p.G566C	NM_153210	NP_694942	Q70EL4	UBP43_HUMAN	Homo sapiens ubiquitin specific peptidase 43 (USP43), mRNA.	1054					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						CCTGGCCAGGGGCCTGGGCAG	0.711000														11			3		0.004672	0.00486265	1	1	0
LRP2	4036	broad.mit.edu	37	2	170062575	170062575	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:170062575C>T	uc002ues.3	-	39	7727	c.7514G>A	c.(7513-7515)cGc>cAc	p.R2505H		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	2505					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity	p.R2505R(1)|p.R2505S(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TTTTGGAACGCGGGCTATCAC	0.428000														53			38		0	0	1	0	0
LHX1	3975	broad.mit.edu	37	17	35295511	35295511	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:35295511G>A	uc002hnh.2	+	0	740	c.17G>A	c.(16-18)gGc>gAc	p.G6D	BC084573_uc002hng.1_5'Flank|LHX1_uc010cux.1_5'Flank	NM_005568	NP_005559	P48742	LHX1_HUMAN	Homo sapiens LIM homeobox 1 (LHX1), mRNA.	6	LIM zinc-binding 1.				S-shaped body morphogenesis|cerebellar Purkinje cell differentiation|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation|cervix development|comma-shaped body morphogenesis|dorsal/ventral pattern formation|ectoderm formation|embryonic pattern specification|embryonic retina morphogenesis in camera-type eye|embryonic viscerocranium morphogenesis|endoderm formation|forebrain regionalization|head development|motor axon guidance|negative regulation of transcription, DNA-dependent|nephric duct morphogenesis|nephron tubule epithelial cell differentiation|neuron migration|oviduct epithelium development|paramesonephric duct development|positive regulation of anterior head development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of transcription, DNA-dependent|post-embryonic development|primitive streak formation|renal vesicle morphogenesis|retina layer formation|spinal cord association neuron differentiation|transcription from RNA polymerase II promoter|ureteric bud development|uterine epithelium development|vagina development	nucleus|protein complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Breast(25;0.00607)				CACTGTGCCGGCTGCAAAAGG	0.562000														28			15		0	0	1	0	0
CGRRF1	10668	broad.mit.edu	37	14	55005088	55005088	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:55005088C>T	uc001xay.3	+	5	1077	c.986C>T	c.(985-987)cCg>cTg	p.P329L		NM_006568	NP_006559	Q99675	CGRF1_HUMAN	Homo sapiens cell growth regulator with ring finger domain 1 (CGRRF1), mRNA.	329					cell cycle arrest|negative regulation of cell proliferation|response to stress		zinc ion binding			endometrium(3)|kidney(2)|lung(5)|ovary(2)|stomach(1)	13						AAAGACAAACCGAAGACTCTT	0.383000														20			17		0	0	1	0	0
TOP2A	7153	broad.mit.edu	37	17	38546236	38546236	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:38546236G>A	uc002huq.3	-	33	4607	c.4448C>T	c.(4447-4449)tCg>tTg	p.S1483L	RARA_uc021txb.1_Intron	NM_001067	NP_001058	P11388	TOP2A_HUMAN	Homo sapiens topoisomerase (DNA) II alpha 170kDa (TOP2A), mRNA.	1483					DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|apoptotic chromosome condensation|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation	DNA topoisomerase complex (ATP-hydrolyzing)|cytoplasm|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|chromatin binding|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding	p.S1483S(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	GACTGCTTTCGAAACAATTTT	0.418000														12			11		0	0	1	0	0
PSMD3	5709	broad.mit.edu	37	17	38146435	38146435	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:38146435C>T	uc002htn.1	+	5	1130	c.966C>T	c.(964-966)gtC>gtT	p.V322V	PSMD3_uc010wen.1_Non-coding_Transcript|PSMD3_uc010weo.1_Silent_p.V223V	NM_002809	NP_002800	O43242	PSMD3_HUMAN	Homo sapiens proteasome (prosome, macropain) 26S subunit, non-ATPase, 3 (PSMD3), mRNA.	322					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|viral reproduction	proteasome complex	enzyme regulator activity|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Colorectal(19;0.000442)					ACACAGCTGTCGGCTTCAAAC	0.512000														16			7		0	0	1	0	0
C9orf131	138724	broad.mit.edu	37	9	35043629	35043629	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:35043629G>T	uc003zvw.3	+	1	1032	c.1003G>T	c.(1003-1005)Gct>Tct	p.A335S	C9orf131_uc003zvu.3_Missense_Mutation_p.A287S|C9orf131_uc003zvv.3_Missense_Mutation_p.A262S|C9orf131_uc003zvx.3_Missense_Mutation_p.A300S	NM_203299	NP_976044	Q5VYM1	CI131_HUMAN	Homo sapiens chromosome 9 open reading frame 131 (C9orf131), transcript variant 1, mRNA.	335										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			GATGCCCCAAGCTTTTGAGCC	0.532000														194			89		5.21634e-54	6.95633e-54	1	1	0
SMARCD1	6602	broad.mit.edu	37	12	50480112	50480112	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:50480112G>A	uc001rvx.4	+	1	516	c.346G>A	c.(346-348)Gtc>Atc	p.V116I	SMARCD1_uc010smo.1_Missense_Mutation_p.V116I|SMARCD1_uc001rvy.4_Missense_Mutation_p.V116I|SMARCD1_uc009zlp.3_Missense_Mutation_p.V116I	NM_003076	NP_003067	Q96GM5	SMRD1_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1 (SMARCD1), transcript variant 1, mRNA.	116	Interaction with ESR1, NR1H4, NR3C1, PGR and SMARCA4.				chromatin-mediated maintenance of transcription|nervous system development|regulation of transcription from RNA polymerase II promoter	SWI/SNF complex|nBAF complex|npBAF complex|nucleoplasm	protein complex scaffold|transcription coactivator activity			NS(1)|breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	18						GCAGCAGGCGGTCCAAAATCG	0.612000														19			12		0	0	1	0	0
NPTN	27020	broad.mit.edu	37	15	73889488	73889488	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:73889488C>T	uc002avs.3	-	1	511	c.314G>A	c.(313-315)cGg>cAg	p.R105Q	NPTN_uc010bjc.3_Missense_Mutation_p.R105Q|NPTN_uc002avt.3_Intron|NPTN_uc002avr.3_Intron|NPTN_uc010ula.2_Intron	NM_012428	NP_036560	Q9Y639	NPTN_HUMAN	Homo sapiens neuroplastin (NPTN), transcript variant b, mRNA.	105	Ig-like 1.				elevation of cytosolic calcium ion concentration|homophilic cell adhesion|long-term synaptic potentiation|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of long-term neuronal synaptic plasticity|positive regulation of neuron projection development|positive regulation of protein phosphorylation	integral to membrane|plasma membrane|presynaptic membrane	cell adhesion molecule binding|type 1 fibroblast growth factor receptor binding			breast(2)|cervix(1)|endometrium(2)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	13						CAAGGTGAGCCGGGTTATTCT	0.577000														29			11		0	0	1	0	0
PLXNB2	23654	broad.mit.edu	37	22	50727510	50727510	+	Missense_Mutation	SNP	T	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:50727510T>A	uc003bkv.4	-	3	1223	c.1130A>T	c.(1129-1131)gAc>gTc	p.D377V		NM_012401	NP_036533	O15031	PLXB2_HUMAN	Homo sapiens plexin B2 (PLXNB2), mRNA.	377	Sema.				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TCTGAGCCCGTCGCGGCTGCC	0.672000														16			4		0	0	1	0	0
ZFPM2	23414	broad.mit.edu	37	8	106814684	106814684	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:106814684C>T	uc003ymd.3	+	7	2397	c.2374C>T	c.(2374-2376)Cca>Tca	p.P792S	ZFPM2_uc011lhs.2_Missense_Mutation_p.P523S	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	Homo sapiens zinc finger protein, multitype 2 (ZFPM2), mRNA.	792					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			TGATATCTTTCCAGGAATTGT	0.438000														13			9		0	0	1	0	0
TTK	7272	broad.mit.edu	37	6	80717747	80717747	+	Splice_Site	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:80717747G>T	uc003pjc.3	+	3	473	c.362_splice	c.e3+1	p.A121_splice	TTK_uc003pjb.4_Splice_Site_p.A121_splice	NM_003318	NP_003309	P33981	TTK_HUMAN	Homo sapiens TTK protein kinase (TTK), transcript variant 1, mRNA.	121					mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		TGAATTAAAAGCGTAAGTATT	0.333000														20			9		2.17888e-05	2.40634e-05	1	1	0
KIAA0753	9851	broad.mit.edu	37	17	6524242	6524242	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:6524242A>C	uc002gde.4	-	6	1540	c.1181T>G	c.(1180-1182)tTt>tGt	p.F394C	KIAA0753_uc010vtd.2_5'UTR|KIAA0753_uc010clo.3_Missense_Mutation_p.F95C|KIAA0753_uc010vte.2_Missense_Mutation_p.F95C	NM_014804	NP_055619	Q2KHM9	K0753_HUMAN	Homo sapiens KIAA0753 (KIAA0753), mRNA.	394						centrosome				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24				COAD - Colon adenocarcinoma(228;0.157)		ACCGATAGGAAATCTGCTCCG	0.443000														97			10		0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114288729	114288729	+	Silent	SNP	G	A	A	rs72544142		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:114288729G>A	uc003ibe.4	+	41	11140	c.11040G>A	c.(11038-11040)tcG>tcA	p.S3680S	ANK2_uc003ibd.4_Silent_p.S1586S|ANK2_uc003ibf.4_Silent_p.S1595S|ANK2_uc011cgc.2_Silent_p.S771S|ANK2_uc003ibg.4_Silent_p.S579S|ANK2_uc003ibh.4_Silent_p.S269S	NM_001148	NP_001139	Q01484	ANK2_HUMAN	Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.	3647					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TAGGGTTCTCGGTACTTCAAG	0.363000														44			21		0	0	1	0	0
HERC2	8924	broad.mit.edu	37	15	28447534	28447534	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:28447534T>G	uc001zbj.3	-	45	7545	c.7439A>C	c.(7438-7440)aAg>aCg	p.K2480T	HERC2_uc001zbk.1_Missense_Mutation_p.K15T	NM_004667	NP_004658	O95714	HERC2_HUMAN	Homo sapiens hect domain and RLD 2 (HERC2), mRNA.	2480					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		AGTGAGAGACTTCAGGGCAAA	0.562000														12			12		0	0	1	0	0
UBR1	197131	broad.mit.edu	37	15	43290423	43290423	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:43290423G>A	uc001zqq.3	-	32	3766	c.3700C>T	c.(3700-3702)Cgg>Tgg	p.R1234W		NM_174916	NP_777576	Q8IWV7	UBR1_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 1 (UBR1), mRNA.	1234					cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		TGTATCCACCGTGCCAGGGTC	0.348000														23			11		0	0	1	0	0
NF1	4763	broad.mit.edu	37	17	29508478	29508478	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:29508478C>T	uc002hgg.3	+	5	1008	c.625C>T	c.(625-627)Cag>Tag	p.Q209*	NF1_uc002hge.2_Nonsense_Mutation_p.Q209*|NF1_uc002hgf.2_Nonsense_Mutation_p.Q209*|NF1_uc002hgh.3_Nonsense_Mutation_p.Q209*|NF1_uc010csn.2_Nonsense_Mutation_p.Q69*	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	209					MAPKKK cascade|Ras protein signal transduction|actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	Ras GTPase activator activity|protein binding	p.0?(8)|p.?(4)|p.Q209H(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GAAGGTTGCGCAGTTAGCAGT	0.299000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				30			20		0	0	1	0	0
PIWIL3	440822	broad.mit.edu	37	22	25115768	25115768	+	Missense_Mutation	SNP	C	A	A	rs142951647		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:25115768C>A	uc003abd.1	-	19	2896	c.2479G>T	c.(2479-2481)Gat>Tat	p.D827Y	PIWIL3_uc011ajx.1_Missense_Mutation_p.D709Y|PIWIL3_uc010gut.1_Missense_Mutation_p.D818Y|PIWIL3_uc011ajy.1_Missense_Mutation_p.D709Y	NM_001008496	NP_001008496	Q7Z3Z3	PIWL3_HUMAN	Homo sapiens piwi-like 3 (Drosophila) (PIWIL3), transcript variant 1, mRNA.	827	Piwi.				cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding	p.P826S(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TGTACTGTATCTGGGCTCAAG	0.358000														36			22		2.89027e-11	3.52362e-11	1	1	0
NLRP13	126204	broad.mit.edu	37	19	56424591	56424591	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:56424591G>A	uc010ygg.2	-	4	617	c.592C>T	c.(592-594)Cct>Tct	p.P198S		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA.	198							ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		TGGTCTTTAGGCCAACTGATG	0.483000														81			66		0	0	1	0	0
CLEC3A	10143	broad.mit.edu	37	16	78064481	78064481	+	Missense_Mutation	SNP	G	A	A	rs147323906		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:78064481G>A	uc002ffh.4	+	2	418	c.337G>A	c.(337-339)Gcc>Acc	p.A113T	CLEC3A_uc021tlr.1_Missense_Mutation_p.A61T	NM_005752	NP_005743	O75596	CLC3A_HUMAN	Homo sapiens C-type lectin domain family 3, member A (CLEC3A), transcript variant 1, mRNA.	113	C-type lectin.				skeletal system development	extracellular region	sugar binding			NS(1)|endometrium(2)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	18						CGAAATCAACGCCCTCCAAGA	0.493000														33			19		0	0	1	0	0
SLC12A2	6558	broad.mit.edu	37	5	127503458	127503458	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:127503458T>C	uc003kus.3	+	17	2786	c.2622T>C	c.(2620-2622)gcT>gcC	p.A874A	SLC12A2_uc010jdf.3_Non-coding_Transcript|SLC12A2_uc010jdg.3_Silent_p.A874A|SLC12A2_uc003kut.1_Silent_p.A81A	NM_001046	NP_001037	P55011	S12A2_HUMAN	Homo sapiens solute carrier family 12 (sodium/potassium/chloride transporters), member 2 (SLC12A2), transcript variant 1, mRNA.	874					potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity			breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	TTTAGGCTGCTGGTCTTGGTC	0.338000														54			28		0	0	1	0	0
CCT8L2	150160	broad.mit.edu	37	22	17073125	17073125	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:17073125C>A	uc002zlp.1	-	0	576	c.316G>T	c.(316-318)Gcc>Tcc	p.A106S		NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 8 (theta)-like 2 (CCT8L2), mRNA.	106					cellular protein metabolic process	cytoplasm	ATP binding|anion channel activity|calcium-activated potassium channel activity			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				ACCACGAAGGCTGTGCCGTCC	0.662000														24			10		0.000442599	0.000473562	1	1	0
KCTD11	147040	broad.mit.edu	37	17	7256633	7256633	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7256633C>T	uc002gge.4	+	0	1426	c.372C>T	c.(370-372)gcC>gcT	p.A124A	TMEM95_uc002ggf.1_5'Flank|TMEM95_uc002ggg.1_5'Flank|TMEM95_uc002ggh.1_5'Flank	NM_001002914	NP_001002914	Q693B1	KCD11_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 11 (KCTD11), mRNA.	124					cell cycle|regulation of growth	voltage-gated potassium channel complex	voltage-gated potassium channel activity			kidney(1)|large_intestine(2)|lung(1)	4		Prostate(122;0.157)				CCTTCCGAGCCAACCTTTTCT	0.602000														41			38		0	0	1	0	0
C14orf49	161176	broad.mit.edu	37	14	95906101	95906101	+	Silent	SNP	C	T	T	rs141403586		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:95906101C>T	uc001yei.4	-	11	2109	c.2094G>A	c.(2092-2094)ccG>ccA	p.P698P	C14orf49_uc010avi.3_Silent_p.P698P	NM_152592	NP_689805	Q6ZMZ3	SYNE3_HUMAN	Homo sapiens chromosome 14 open reading frame 49 (C14orf49), mRNA.	698					cytoskeletal anchoring at nuclear membrane	SUN-KASH complex|integral to membrane|nuclear outer membrane	actin binding			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(27)|prostate(5)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	50		all_cancers(154;0.0937)		COAD - Colon adenocarcinoma(157;0.245)		CCTCCTTCTCCGGGAATTCTG	0.622000														27			10		0	0	1	0	0
EML1	2009	broad.mit.edu	37	14	100357548	100357548	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:100357548G>A	uc001ygr.3	+	5	657	c.588G>A	c.(586-588)gaG>gaA	p.E196E	EML1_uc010avt.1_Silent_p.E164E|EML1_uc010tww.2_Silent_p.E165E|EML1_uc001ygq.3_Silent_p.E196E|EML1_uc001ygs.3_Silent_p.E177E	NM_001008707	NP_001008707	O00423	EMAL1_HUMAN	Homo sapiens echinoderm microtubule associated protein like 1 (EML1), transcript variant 1, mRNA.	177						cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				AACCCAAGGAGCCTGTATTCA	0.443000														68			50		0	0	1	0	0
FGFRL1	53834	broad.mit.edu	37	4	1018775	1018775	+	Silent	SNP	C	T	T	rs140148549		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:1018775C>T	uc003gce.3	+	6	1316	c.1155C>T	c.(1153-1155)gcC>gcT	p.A385A	FGFRL1_uc003gcf.3_Silent_p.A385A|FGFRL1_uc003gcg.3_Silent_p.A385A|FGFRL1_uc010ibo.3_Silent_p.A385A	NM_021923	NP_068742	Q8N441	FGRL1_HUMAN	Homo sapiens fibroblast growth factor receptor-like 1 (FGFRL1), transcript variant 3, mRNA.	385					regulation of cell growth	integral to membrane|plasma membrane	fibroblast growth factor receptor activity|heparin binding			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GCATCCCAGCCGGCGCTGTCT	0.697000														16			12		0	0	1	0	0
TGFB3	7043	broad.mit.edu	37	14	76437556	76437556	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:76437556C>T	uc001xsc.2	-	2	1415	c.559G>A	c.(559-561)Ggt>Agt	p.G187S	TGFB3_uc001xsd.3_Missense_Mutation_p.G185S	NM_003239	NP_003230	P10600	TGFB3_HUMAN	Homo sapiens transforming growth factor, beta 3 (TGFB3), mRNA.	187					cell growth|cell-cell junction organization|detection of hypoxia|face morphogenesis|in utero embryonic development|induction of apoptosis|lung alveolus development|mammary gland development|menstrual cycle phase|negative regulation of DNA replication|negative regulation of cell proliferation|negative regulation of macrophage cytokine production|negative regulation of neuron apoptosis|odontogenesis|ossification involved in bone remodeling|palate development|platelet activation|platelet degranulation|positive regulation of DNA replication|positive regulation of SMAD protein import into nucleus|positive regulation of bone mineralization|positive regulation of cell division|positive regulation of collagen biosynthetic process|positive regulation of epithelial to mesenchymal transition|positive regulation of filopodium assembly|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein secretion|positive regulation of transcription from RNA polymerase II promoter|response to progesterone stimulus|salivary gland morphogenesis|transforming growth factor beta receptor signaling pathway	extracellular matrix|platelet alpha granule lumen	growth factor activity|identical protein binding|transforming growth factor beta binding|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	11				BRCA - Breast invasive adenocarcinoma(234;0.0169)		TTCTTGCCACCGATATAGCGC	0.562000														33			21		0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	186114999	186114999	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:186114999G>A	uc001grq.1	+	92	14781	c.14552G>A	c.(14551-14553)cGt>cAt	p.R4851H	MIR548F1_uc021pgf.1_Intron|HMCN1_uc001grs.1_Missense_Mutation_p.R420H	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	4851	TSP type-1 6.				response to stimulus|visual perception	basement membrane	calcium ion binding	p.G4850D(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AAAGGTGGCCGTCCCTGTCCC	0.537000														27			23		0	0	1	0	0
TYK2	7297	broad.mit.edu	37	19	10463722	10463722	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10463722C>T	uc002moc.4	-	21	3458	c.3080G>A	c.(3079-3081)cGc>cAc	p.R1027H	TYK2_uc010dxe.3_Missense_Mutation_p.R842H	NM_003331	NP_003322	P29597	TYK2_HUMAN	Homo sapiens tyrosine kinase 2 (TYK2), mRNA.	1027	Protein kinase 2.				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity	p.R1027H(2)		breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			CAGCACGTTGCGCGCGGCTAG	0.662000														16			9		0	0	1	0	0
DNHD1	144132	broad.mit.edu	37	11	6587819	6587819	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6587819C>T	uc001mdw.4	+	34	11773	c.11209C>T	c.(11209-11211)Cta>Tta	p.L3737L	DNHD1_uc001mea.4_Silent_p.L6L|DNHD1_uc001meb.3_Silent_p.L5L|DNHD1_uc001mec.3_Silent_p.L5L|DNHD1_uc010rao.2_Silent_p.L5L|DNHD1_uc009yfg.3_5'Flank	NM_144666	NP_653267	Q96M86	DNHD1_HUMAN	Homo sapiens dynein heavy chain domain 1 (DNHD1), transcript variant 1, mRNA.	3737					microtubule-based movement	dynein complex	microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		ACCCCAAGTGCTAGGTTGTGA	0.507000														10			9		0	0	1	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3684577	3684577	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:3684577G>A	uc002wja.3	-	3	868	c.868C>T	c.(868-870)Ctg>Ttg	p.L290L	SIGLEC1_uc002wiz.4_Silent_p.L290L|SIGLEC1_uc002wjc.3_Silent_p.L201L	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 1, sialoadhesin (SIGLEC1), mRNA.	290	Ig-like C2-type 2.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						GGCAGGTGCAGCACACCAGTC	0.602000														23			15		0	0	1	0	0
LPA	4018	broad.mit.edu	37	6	161027655	161027655	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:161027655G>T	uc003qtl.3	-	17	2759	c.2639C>A	c.(2638-2640)cCt>cAt	p.P880H		NM_005577	NP_005568	P08519	APOA_HUMAN	Homo sapiens lipoprotein, Lp(a) (LPA), mRNA.	3388	Kringle 8.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	GGCTGCCACAGGATCTGGATT	0.537000														72			56		1.80625e-27	2.37377e-27	1	1	0
OR10V1	390201	broad.mit.edu	37	11	59480455	59480455	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:59480455G>T	uc001nof.1	-	0	864	c.864C>A	c.(862-864)ccC>ccA	p.P288P		NM_001005324	NP_001005324	Q8NGI7	O10V1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily V, member 1 (OR10V1), mRNA.	288					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|liver(1)|lung(10)|skin(1)	16						TATAGATCAAGGGGTTTAAAA	0.433000														83			53		4.25531e-23	5.5398e-23	1	1	0
VWF	7450	broad.mit.edu	37	12	6173434	6173434	+	Silent	SNP	G	A	A	rs111867665		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:6173434G>A	uc001qnn.1	-	11	1660	c.1410C>T	c.(1408-1410)gaC>gaT	p.D470D	VWF_uc010set.1_Silent_p.D470D	NM_000552	NP_000543	P04275	VWF_HUMAN	Homo sapiens von Willebrand factor (VWF), mRNA.	470	VWFD 2.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	Weibel-Palade body|endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein N-terminus binding|protein homodimerization activity			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	GGAGCTGGACGTCCTGGCCAT	0.632000														16			20		0	0	1	0	0
ARHGAP29	9411	broad.mit.edu	37	1	94640257	94640257	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:94640257T>G	uc001dqj.4	-	22	3323	c.2954A>C	c.(2953-2955)aAg>aCg	p.K985T	ARHGAP29_uc009wdq.1_Non-coding_Transcript	NM_004815	NP_004806	Q52LW3	RHG29_HUMAN	Homo sapiens Rho GTPase activating protein 29 (ARHGAP29), mRNA.	985					Rho protein signal transduction	cytosol	Rho GTPase activator activity|metal ion binding			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		ATCTTCTATCTTTTGGGATGC	0.398000														144			62		0	0	1	0	0
TULP4	56995	broad.mit.edu	37	6	158850911	158850911	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:158850911G>A	uc003qrf.3	+	2	1882	c.525G>A	c.(523-525)tgG>tgA	p.W175*	TULP4_uc011efo.2_Nonsense_Mutation_p.W175*|TULP4_uc003qrg.3_Nonsense_Mutation_p.W175*	NM_020245	NP_064630	Q9NRJ4	TULP4_HUMAN	Homo sapiens tubby like protein 4 (TULP4), transcript variant 1, mRNA.	175					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		GTGGCATATGGACTCCTGACG	0.498000														81			11		0	0	1	0	0
IP6K3	117283	broad.mit.edu	37	6	33693227	33693227	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:33693227G>A	uc010jvf.2	-	5	1292	c.756C>T	c.(754-756)tgC>tgT	p.C252C	IP6K3_uc003ofb.2_Silent_p.C252C	NM_001142883	NP_473452	Q96PC2	IP6K3_HUMAN	Homo sapiens inositol hexakisphosphate kinase 3 (IP6K3), transcript variant 2, mRNA.	252					inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|protein phosphorylation	cytoplasm	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol hexakisphosphate 6-kinase activity|inositol trisphosphate 3-kinase activity			skin(1)	1						CCTGCATGCCGCAGATGCGCA	0.667000														18			11		0	0	1	0	0
ACTA2	59	broad.mit.edu	37	10	90701149	90701149	+	Splice_Site	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:90701149T>C	uc001kfp.3	-	6	571	c.455_splice	c.e6-1	p.G152_splice	STAMBPL1_uc010qmx.1_Intron|ACTA2_uc010qmy.2_Splice_Site_p.G107_splice|ACTA2_uc001kfq.3_Splice_Site_p.G152_splice	NM_001613	NP_001604	P62736	ACTA_HUMAN	Homo sapiens actin, alpha 2, smooth muscle, aorta (ACTA2), transcript variant 2, mRNA.	152					response to virus	cytosol	ATP binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(1)|urinary_tract(2)	17		Colorectal(252;0.0161)		Colorectal(12;0.000123)|COAD - Colon adenocarcinoma(12;0.00018)		GCACGATGCCTGGGAGACAAT	0.567000														35			5		0	0	1	0	0
ASPN	54829	broad.mit.edu	37	9	95228754	95228754	+	Missense_Mutation	SNP	T	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:95228754T>A	uc004ase.2	-	3	787	c.487A>T	c.(487-489)Agt>Tgt	p.S163C	CENPP_uc004arz.3_Intron|CENPP_uc010mqx.3_Intron|ASPN_uc010mqy.2_Missense_Mutation_p.S163C	NM_017680	NP_060150	Q9BXN1	ASPN_HUMAN	Homo sapiens asporin (ASPN), transcript variant 1, mRNA.	163					bone mineralization|negative regulation of tooth mineralization|negative regulation of transforming growth factor beta receptor signaling pathway	proteinaceous extracellular matrix	calcium ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9						GGTATTTCACTTAGTTGATTG	0.373000														126			10		0	0	1	0	0
PTPRN	5798	broad.mit.edu	37	2	220164440	220164440	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:220164440C>T	uc002vkz.3	-	9	1746	c.1505G>A	c.(1504-1506)gGc>gAc	p.G502D	PTPRN_uc010zlc.2_Missense_Mutation_p.G412D|PTPRN_uc002vla.3_Intron	NM_002846	NP_001186693	Q16849	PTPRN_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, N (PTPRN), transcript variant 1, mRNA.	502					response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		GATGAAGCTGCCTGAGGACAT	0.597000														51			29		0	0	1	0	0
NCOA7	135112	broad.mit.edu	37	6	126243846	126243846	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:126243846G>A	uc003qai.3	+	12	2758	c.2389G>A	c.(2389-2391)Gca>Aca	p.A797T	NCOA7_uc010kes.3_Missense_Mutation_p.A797T|NCOA7_uc003qae.4_Missense_Mutation_p.A797T|NCOA7_uc010ket.3_Missense_Mutation_p.A682T|NCOA7_uc003qah.3_Missense_Mutation_p.A786T|NCOA7_uc003qak.3_Missense_Mutation_p.A74T	NM_181782	NP_861447	Q8NI08	NCOA7_HUMAN	Homo sapiens nuclear receptor coactivator 7 (NCOA7), transcript variant 1, mRNA.	797					cell wall macromolecule catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(2)	39				UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)		ACGCCTTCCTGCAAGGGTGCA	0.512000														36			28		0	0	1	0	0
ZNF654	55279	broad.mit.edu	37	3	88188839	88188839	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:88188839G>A	uc003dqv.3	+	0	578	c.379G>A	c.(379-381)Gaa>Aaa	p.E127K	CGGBP1_uc003dqu.3_Intron	NM_018293	NP_060763	Q8IZM8	ZN654_HUMAN	Homo sapiens zinc finger protein 654 (ZNF654), mRNA.	127					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(3)	12		Lung NSC(201;0.0283)		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)		AGatgttattgaaaatgttat	0.363000														7			3		0	0	1	0	0
IL1RL2	8808	broad.mit.edu	37	2	102842450	102842450	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:102842450G>A	uc002tbs.3	+	8	1210	c.1084G>A	c.(1084-1086)Gac>Aac	p.D362N	IL1RL2_uc002tbt.3_Missense_Mutation_p.D244N	NM_003854	NP_003845	Q9HB29	ILRL2_HUMAN	Homo sapiens interleukin 1 receptor-like 2 (IL1RL2), mRNA.	362					cellular defense response|innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						TTTTAAGATCGACATTGTTCT	0.408000														48			25		0	0	1	0	0
ZFAT	57623	broad.mit.edu	37	8	135614391	135614391	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:135614391G>A	uc003yup.3	-	5	1757	c.1571C>T	c.(1570-1572)gCc>gTc	p.A524V	ZFAT_uc003yun.3_Missense_Mutation_p.A512V|ZFAT_uc003yuo.3_Missense_Mutation_p.A512V|ZFAT_uc010meh.3_Missense_Mutation_p.A512V|ZFAT_uc010mej.3_Missense_Mutation_p.A462V|ZFAT_uc010mei.3_Non-coding_Transcript|ZFAT_uc003yuq.3_Missense_Mutation_p.A512V|ZFAT_uc003yur.3_Missense_Mutation_p.A512V	NM_020863	NP_001161055	Q9P243	ZFAT_HUMAN	Homo sapiens zinc finger and AT hook domain containing (ZFAT), transcript variant 1, mRNA.	524					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			GCCCTGGAGGGCAAACTCCTC	0.622000														10			6		0	0	1	0	0
LRRFIP2	9209	broad.mit.edu	37	3	37107390	37107390	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:37107390T>G	uc003cgp.2	-	23	2033	c.1610A>C	c.(1609-1611)gAt>gCt	p.D537A	LRRFIP2_uc011ayf.1_Missense_Mutation_p.D319A|LRRFIP2_uc003cgs.3_Missense_Mutation_p.D240A|LRRFIP2_uc003cgt.3_Missense_Mutation_p.D216A	NM_006309	NP_006300	Q9Y608	LRRF2_HUMAN	Homo sapiens leucine rich repeat (in FLII) interacting protein 2 (LRRFIP2), transcript variant 1, mRNA.	537					Wnt receptor signaling pathway		LRR domain binding	p.0?(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						ATGACTGACATCACCATTGGG	0.512000														53			27		0	0	1	0	0
AATK	9625	broad.mit.edu	37	17	79093214	79093214	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:79093214C>T	uc010dia.3	-	12	4130	c.4050G>A	c.(4048-4050)acG>acA	p.T1350T	AATK_uc010dhz.3_Non-coding_Transcript|AATK_uc021ueu.1_Silent_p.T1247T	NM_001080395	NP_001073864	Q6ZMQ8	LMTK1_HUMAN	Homo sapiens apoptosis-associated tyrosine kinase (AATK), transcript variant 1, mRNA.	1350						integral to membrane|mitochondrion|perinuclear region of cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(2)|kidney(2)|lung(8)|ovary(3)|prostate(1)|stomach(4)|upper_aerodigestive_tract(1)	21	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			CAGACACGTGCGTGATGGAGA	0.736000														13			5		0	0	1	0	0
CAPZB	832	broad.mit.edu	37	1	19712004	19712004	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:19712004G>A	uc010ocz.2	-	2	725	c.297C>T	c.(295-297)tcC>tcT	p.S99S	CAPZB_uc001bce.3_Silent_p.S70S|CAPZB_uc021ohr.1_Silent_p.S70S|CAPZB_uc009vpk.3_Silent_p.S96S	NM_004930	NP_004921	P47756	CAPZB_HUMAN	Homo sapiens capping protein (actin filament) muscle Z-line, beta (CAPZB), transcript variant 1, mRNA.	70					actin cytoskeleton organization|actin filament capping|blood coagulation|cellular component movement	F-actin capping protein complex|WASH complex|cytosol	actin binding			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	7		Colorectal(325;3.93e-05)|Renal(390;0.000147)|all_lung(284;0.000169)|Lung NSC(340;0.000202)|Breast(348;0.000496)|Ovarian(437;0.00428)|Myeloproliferative disorder(586;0.0262)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Kidney(64;8.63e-06)|BRCA - Breast invasive adenocarcinoma(304;4.06e-05)|KIRC - Kidney renal clear cell carcinoma(64;0.000175)|GBM - Glioblastoma multiforme(114;0.000525)|STAD - Stomach adenocarcinoma(196;0.00779)|READ - Rectum adenocarcinoma(331;0.103)|Lung(427;0.173)		CTCACCTATAGGAGTCCCCAT	0.567000														30			18		0	0	1	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72196994	72196994	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:72196994A>G	uc001xms.3	+	17	5261	c.4900A>G	c.(4900-4902)Acc>Gcc	p.T1634A	SIPA1L1_uc001xmt.3_Missense_Mutation_p.T1613A|SIPA1L1_uc001xmu.3_Missense_Mutation_p.T1613A|SIPA1L1_uc001xmv.3_Missense_Mutation_p.T1634A|SIPA1L1_uc010ttm.2_Missense_Mutation_p.T1088A	NM_015556	NP_056371	O43166	SI1L1_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 1 (SIPA1L1), mRNA.	1634					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		GCCTTCTTACACCTTAGGAAT	0.567000														51			21		0	0	1	0	0
RPA1	6117	broad.mit.edu	37	17	1747248	1747248	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:1747248C>T	uc002fto.2	+	2	234	c.119C>T	c.(118-120)cCg>cTg	p.P40L		NM_002945	NP_002936	P27694	RFA1_HUMAN	Homo sapiens replication protein A1, 70kDa (RPA1), mRNA.	40					DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor A complex|PML body|actin cytoskeleton|cytoplasm	metal ion binding|protein binding|single-stranded DNA binding			breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)	10						AATAGTCCGCCGCGTTATCGA	0.458000								Nucleotide excision repair (NER)						40			27		0	0	1	0	0
RNF148	378925	broad.mit.edu	37	7	122342350	122342350	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:122342350G>A	uc003vkk.1	-	0	672	c.455C>T	c.(454-456)gCg>gTg	p.A152V	CADPS2_uc022akp.1_Intron|CADPS2_uc022akq.1_Intron|CADPS2_uc010lkq.3_Intron|CADPS2_uc022akr.1_Intron	NM_198085	NP_932351	Q8N7C7	RN148_HUMAN	Homo sapiens ring finger protein 148 (RNF148), mRNA.	152	PA.					integral to membrane	zinc ion binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(7)	16						TATCATCACCGCGACTATATT	0.463000														391			23		0	0	1	0	0
APOBR	55911	broad.mit.edu	37	16	28507307	28507307	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:28507307C>T	uc002dqb.2	+	1	978	c.945C>T	c.(943-945)ggC>ggT	p.G315G	NPIPL1_uc010vct.2_Intron|APOBR_uc010byg.2_5'UTR	NM_018690	NP_061160	Q0VD83	APOBR_HUMAN	Homo sapiens apolipoprotein B receptor (APOBR), mRNA.	315	Glu-rich.				cholesterol metabolic process|lipid transport	chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						CAGCCTCAGGCGGGGAGGAGG	0.672000														10			16		0	0	1	0	0
PHF20L1	51105	broad.mit.edu	37	8	133854925	133854925	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:133854925A>G	uc003ytt.3	+	18	2878	c.2553A>G	c.(2551-2553)aaA>aaG	p.K851K	PHF20L1_uc011lja.2_Silent_p.K825K	NM_016018	NP_057102	A8MW92	P20L1_HUMAN	Homo sapiens PHD finger protein 20-like 1 (PHF20L1), transcript variant 1, mRNA.	851							nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			TGCCCCTAAAAATGGAAGGAA	0.403000														50			4		0	0	1	0	0
C1orf63	57035	broad.mit.edu	37	1	25573443	25573443	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:25573443G>A	uc001bjw.3	-	1	264	c.12C>T	c.(10-12)taC>taT	p.Y4Y	C1orf63_uc021oji.1_Non-coding_Transcript|C1orf63_uc021ojj.1_Non-coding_Transcript	NM_020317	NP_064713	Q9BUV0	CA063_HUMAN	Homo sapiens chromosome 1 open reading frame 63 (C1orf63), mRNA.	4										breast(1)|large_intestine(1)|lung(4)|pancreas(1)	7		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.9e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000333)|BRCA - Breast invasive adenocarcinoma(304;0.000443)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000932)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TGTCGTTCACGTAGTTGGACA	0.597000														31			25		0	0	1	0	0
PAICS	10606	broad.mit.edu	37	4	57325593	57325593	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:57325593G>T	uc010ihd.1	+	8	1251	c.1170G>T	c.(1168-1170)caG>caT	p.Q390H	PAICS_uc003hbs.1_Missense_Mutation_p.Q389H|PAICS_uc011cac.1_Missense_Mutation_p.Q389H|PAICS_uc003hbt.1_Missense_Mutation_p.Q396H|PAICS_uc003hbu.1_Missense_Mutation_p.Q389H	NM_006452	NP_006443	P22234	PUR6_HUMAN	Homo sapiens phosphoribosylaminoimidazole carboxylase, phosphoribosylaminoimidazole succinocarboxamide synthetase (PAICS), transcript variant 2, mRNA.	389	AIR carboxylase.				'de novo' IMP biosynthetic process|purine base biosynthetic process	cytosol	ATP binding|identical protein binding|phosphoribosylaminoimidazole carboxylase activity|phosphoribosylaminoimidazolesuccinocarboxamide synthase activity			endometrium(1)|kidney(2)|large_intestine(1)|urinary_tract(1)	5	Glioma(25;0.08)|all_neural(26;0.101)				L-Aspartic Acid(DB00128)	TTGCTGCTCAGATATTTGGGT	0.413000														30			6		0.00116845	0.00123466	1	1	0
AFF2	2334	broad.mit.edu	37	X	148037907	148037907	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:148037907T>G	uc004fcp.3	+	10	2811	c.2332T>G	c.(2332-2334)Ttt>Gtt	p.F778V	AFF2_uc004fcq.3_Missense_Mutation_p.F768V|AFF2_uc004fcr.3_Missense_Mutation_p.F739V|AFF2_uc011mxb.2_Missense_Mutation_p.F743V|AFF2_uc004fcs.3_Missense_Mutation_p.F745V|AFF2_uc011mxc.2_Missense_Mutation_p.F419V	NM_002025	NP_002016	P51816	AFF2_HUMAN	Homo sapiens AF4/FMR2 family, member 2 (AFF2), transcript variant 1, mRNA.	778					RNA splicing|brain development|mRNA processing|regulation of RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					AGAGCCAACATTTTCACCTAT	0.458000														75			5		0	0	1	0	0
HIF1A	3091	broad.mit.edu	37	14	62204914	62204914	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:62204914A>G	uc001xfq.2	+	9	1763	c.1359A>G	c.(1357-1359)ttA>ttG	p.L453L	HIF1A_uc001xfr.2_Silent_p.L453L|HIF1A_uc001xfs.2_Silent_p.L454L|HIF1A_uc021rua.1_Silent_p.L477L	NM_001530	NP_001521	Q16665	HIF1A_HUMAN	Homo sapiens hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor) (HIF1A), transcript variant 1, mRNA.	453	ODD.				cellular response to hypoxia|collagen metabolic process|connective tissue replacement involved in inflammatory response wound healing|elastin metabolic process|epithelial to mesenchymal transition|oxygen homeostasis|positive regulation of chemokine production|positive regulation of epithelial cell migration|positive regulation of hormone biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|regulation of transforming growth factor-beta2 production	cytoplasm|nucleolus|transcription factor complex	Hsp90 protein binding|histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding			breast(2)|endometrium(8)|kidney(6)|large_intestine(3)|lung(4)	23				OV - Ovarian serous cystadenocarcinoma(108;1.62e-09)|BRCA - Breast invasive adenocarcinoma(234;0.189)		TGTCTCCATTACCCACCGCTG	0.418000														86			8		0	0	1	0	0
NKX2-1	7080	broad.mit.edu	37	14	36988464	36988464	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:36988464G>A	uc001wtu.3	-	1	285	c.189C>T	c.(187-189)ggC>ggT	p.G63G	SFTA3_uc001wts.3_Intron|NKX2-1_uc001wtt.3_Silent_p.G33G|NKX2-1_uc001wtv.3_Silent_p.G33G|BX161496_uc001wtw.1_5'Flank	NM_001079668	NP_001073136	P43699	NKX21_HUMAN	Homo sapiens NK2 homeobox 1 (NKX2-1), transcript variant 1, mRNA.	33					epithelial tube branching involved in lung morphogenesis|globus pallidus development|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|thyroid gland development		protein binding|transcription regulatory region DNA binding			large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)	7	all_cancers(3;4.47e-51)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.165)		Lung(8;1.8e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.014)|all cancers(34;0.0366)|LUSC - Lung squamous cell carcinoma(13;0.132)	GBM - Glioblastoma multiforme(112;0.0171)		GAGCCCCGAGGCCGCCGCCCT	0.667000			A		NSCLC									3			5		0	0	1	0	0
FHOD3	80206	broad.mit.edu	37	18	34310638	34310638	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:34310638G>T	uc021uiv.1	+	19	3544	c.3447G>T	c.(3445-3447)gaG>gaT	p.E1149D	FHOD3_uc002kzs.1_Missense_Mutation_p.E974D|FHOD3_uc002kzt.1_Missense_Mutation_p.E957D|FHOD3_uc010dmz.1_Missense_Mutation_p.E689D|FHOD3_uc010dnb.1_5'UTR	NM_025135	NP_079411	Q2V2M9	FHOD3_HUMAN	Homo sapiens formin homology 2 domain containing 3 (FHOD3), mRNA.	957	FH2.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				AAAGGCAAGAGATCATTGTTC	0.398000														88			28		1.36615e-20	1.76476e-20	1	1	0
IGSF9B	22997	broad.mit.edu	37	11	133789708	133789708	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:133789708C>T	uc001qgx.4	-	17	4143	c.3912G>A	c.(3910-3912)acG>acA	p.T1304T		NM_014987	NP_055802	Q9UPX0	TUTLB_HUMAN	Homo sapiens immunoglobulin superfamily, member 9B (IGSF9B), mRNA.	1304	Pro-rich.					integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		GAGGGGAAGGCGTCTGTCCAA	0.687000														13			11		0	0	1	0	0
PDE6B	5158	broad.mit.edu	37	4	656910	656910	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:656910G>A	uc003gap.3	+	14	1907	c.1854G>A	c.(1852-1854)aaG>aaA	p.K618K	PDE6B_uc003gao.4_Silent_p.K618K|PDE6B_uc011buy.2_Silent_p.K339K|PDE6B_uc011buz.2_Silent_p.K50K	NM_000283	NP_001138764	P35913	PDE6B_HUMAN	Homo sapiens phosphodiesterase 6B, cGMP-specific, rod, beta (PDE6B), transcript variant 1, mRNA.	618					GMP metabolic process|cytosolic calcium ion homeostasis|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						CCTTGGCTAAGCTCCACGGCT	0.632000														39			4		0	0	1	0	0
LRFN5	145581	broad.mit.edu	37	14	42356641	42356641	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:42356641C>T	uc001wvm.3	+	2	2011	c.813C>T	c.(811-813)ggC>ggT	p.G271G	LRFN5_uc010ana.3_Silent_p.G271G	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 5 (LRFN5), mRNA.	271	LRRCT.					integral to membrane		p.G271C(2)|p.T270I(1)|p.T270T(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		TTTTAACTGGCCGCTACTTTT	0.468000										HNSCC(30;0.082)				72			48		0	0	1	0	0
FBN3	84467	broad.mit.edu	37	19	8191363	8191363	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:8191363C>T	uc002mjf.3	-	18	2560	c.2543G>A	c.(2542-2544)cGc>cAc	p.R848H		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	848	TB 4.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GATCTCGCAGCGTTCGCAGGG	0.647000														12			5		0	0	1	0	0
OR13C2	392376	broad.mit.edu	37	9	107367204	107367204	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:107367204G>A	uc011lvq.2	-	0	705	c.705C>T	c.(703-705)agC>agT	p.S235S		NM_001004481	NP_001004481	Q8NGS9	O13C2_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 2 (OR13C2), mRNA.	235					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						AGGAAGCTTTGCTTCTCCCCT	0.403000														63			50		0	0	1	0	0
DYSF	8291	broad.mit.edu	37	2	71838445	71838445	+	Missense_Mutation	SNP	T	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:71838445T>A	uc010fen.3	+	36	4169	c.4028T>A	c.(4027-4029)aTc>aAc	p.I1343N	DYSF_uc010fei.3_Missense_Mutation_p.I1342N|DYSF_uc010feh.3_Missense_Mutation_p.I1311N|DYSF_uc002sig.4_Missense_Mutation_p.I1311N|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Missense_Mutation_p.I1356N|DYSF_uc010fee.3_Missense_Mutation_p.I1325N|DYSF_uc010fef.3_Missense_Mutation_p.I1342N|DYSF_uc002sie.3_Missense_Mutation_p.I1325N|DYSF_uc010feo.3_Missense_Mutation_p.I1357N|DYSF_uc010fej.3_Missense_Mutation_p.I1312N|DYSF_uc010fel.3_Missense_Mutation_p.I1312N|DYSF_uc010fem.3_Missense_Mutation_p.I1326N|DYSF_uc002sif.3_Missense_Mutation_p.I1326N|DYSF_uc010fek.3_Missense_Mutation_p.I1343N|DYSF_uc010yqy.2_Missense_Mutation_p.I206N|DYSF_uc010yqz.2_Missense_Mutation_p.I65N	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.	1325						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CCTCAGAACATCAAGCCAGCG	0.637000														16			4		0	0	1	0	0
TK2	7084	broad.mit.edu	37	16	66551710	66551710	+	Missense_Mutation	SNP	C	T	T	rs149036717	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:66551710C>T	uc002eos.3	-	6	871	c.520G>A	c.(520-522)Gtg>Atg	p.V174M	TK2_uc021tjp.1_5'Flank|TK2_uc010vip.2_Missense_Mutation_p.V77M|TK2_uc002eor.3_Missense_Mutation_p.V143M|TK2_uc010cdq.3_Intron|TK2_uc010viq.2_Missense_Mutation_p.V156M|TK2_uc010vir.2_Missense_Mutation_p.V149M|TK2_uc010cdr.3_Missense_Mutation_p.V125M	NM_004614	NP_004605	O00142	KITM_HUMAN	Homo sapiens thymidine kinase 2, mitochondrial (TK2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	174					pyrimidine base metabolic process|pyrimidine nucleoside salvage	mitochondrial matrix	ATP binding|phosphotransferase activity, alcohol group as acceptor|thymidine kinase activity			large_intestine(1)|lung(2)|urinary_tract(1)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0736)|Epithelial(162;0.237)		TCAACAGACACGTCCATGTTC	0.517000														53			17		0	0	1	0	0
POLD3	10714	broad.mit.edu	37	11	74329667	74329667	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:74329667C>A	uc001ovf.1	+	5	553	c.478C>A	c.(478-480)Ctt>Att	p.L160I	POLD3_uc009yua.1_Missense_Mutation_p.L54I	NM_006591	NP_006582	Q15054	DPOD3_HUMAN	Homo sapiens polymerase (DNA-directed), delta 3, accessory subunit (POLD3), mRNA.	160					DNA strand elongation involved in DNA replication|DNA synthesis involved in DNA repair|S phase of mitotic cell cycle|base-excision repair|mismatch repair|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm	DNA-directed DNA polymerase activity|protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|stomach(1)	18	Breast(11;3.21e-06)					GCAGTCACATCTTCACATGTC	0.488000														118			13		7.03913e-09	8.30711e-09	1	1	0
AHNAK	79026	broad.mit.edu	37	11	62289319	62289319	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:62289319T>G	uc001ntl.3	-	4	12870	c.12570A>C	c.(12568-12570)aaA>aaC	p.K4190N	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	4190					nervous system development	nucleus	protein binding	p.P4189P(1)		NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GCATTTTCACTTTGGGCATTT	0.537000														155			122		0	0	1	0	0
PHC3	80012	broad.mit.edu	37	3	169863247	169863247	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:169863247C>T	uc003fgl.2	-	5	670	c.636G>A	c.(634-636)tcG>tcA	p.S212S	PHC3_uc010hws.1_Silent_p.S200S|PHC3_uc011bpq.1_Silent_p.S159S|PHC3_uc011bpr.1_Intron|PHC3_uc003fgm.2_Silent_p.S212S	NM_024947	NP_079223	Q8NDX5	PHC3_HUMAN	Homo sapiens polyhomeotic homolog 3 (Drosophila) (PHC3), mRNA.	200	Ser-rich.				multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			ATGACGATGACGACGAGACAA	0.438000														15			12		0	0	1	0	0
ITPR1	3708	broad.mit.edu	37	3	4716021	4716021	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:4716021G>A	uc003bqc.3	+	20	2897	c.2547G>A	c.(2545-2547)acG>acA	p.T849T	ITPR1_uc021wsi.1_Silent_p.T864T|ITPR1_uc021wsj.1_Silent_p.T849T|ITPR1_uc011asu.2_Intron	NM_001168272	NP_001161744	Q14643	ITPR1_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 1 (ITPR1), transcript variant 3, mRNA.	864					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		ATAAGCTTACGTTTGAGGTAA	0.383000														12			4		0	0	1	0	0
YRDC	79693	broad.mit.edu	37	1	38272585	38272585	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:38272585G>A	uc001cca.1	-	2	581	c.568C>T	c.(568-570)Ccg>Tcg	p.P190S	C1orf122_uc001ccb.1_5'Flank	NM_024640	NP_078916	Q86U90	YRDC_HUMAN	Homo sapiens yrdC domain containing (E. coli) (YRDC), nuclear gene encoding mitochondrial protein, mRNA.	190	YrdC-like.				negative regulation of transport	membrane|mitochondrion				lung(2)|upper_aerodigestive_tract(1)	3	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				AGAGCAAGCGGACCCTCAAAC	0.512000														62			8		0	0	1	0	0
CLPX	10845	broad.mit.edu	37	15	65472527	65472527	+	Missense_Mutation	SNP	C	T	T	rs142954778	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:65472527C>T	uc002aom.3	-	1	167	c.95G>A	c.(94-96)cGc>cAc	p.R32H	CLPX_uc010uiu.2_Non-coding_Transcript|CLPX_uc010bhg.1_Missense_Mutation_p.R32H	NM_006660	NP_006651	O76031	CLPX_HUMAN	Homo sapiens ClpX caseinolytic peptidase X homolog (E. coli) (CLPX), mRNA.	32					protein folding|proteolysis involved in cellular protein catabolic process	mitochondrial endopeptidase Clp complex|mitochondrial inner membrane|mitochondrial nucleoid	ATP binding|ATPase activity|metal ion binding|peptidase activator activity|unfolded protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)|skin(2)	16						CATATGAATGCGACCACCAGA	0.388000														44			26		0	0	1	0	0
MRPL37	51253	broad.mit.edu	37	1	54678284	54678284	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:54678284C>A	uc001cxa.4	+	4	1020	c.943C>A	c.(943-945)Ctg>Atg	p.L315M	MRPL37_uc009vzp.3_Missense_Mutation_p.L184M	NM_016491	NP_057575	Q9BZE1	RM37_HUMAN	Homo sapiens mitochondrial ribosomal protein L37 (MRPL37), nuclear gene encoding mitochondrial protein, mRNA.	315					translation	mitochondrial ribosome	structural constituent of ribosome			NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(4)|skin(2)	19						CAAGATGATCCTGTTTGCTTT	0.542000														84			13		2.32078e-09	2.76369e-09	1	1	0
ZNF532	55205	broad.mit.edu	37	18	56586209	56586209	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:56586209C>A	uc010xeg.2	+	2	887	c.690C>A	c.(688-690)agC>agA	p.S230R	ZNF532_uc002lhp.3_Missense_Mutation_p.S228R|ZNF532_uc002lho.3_Missense_Mutation_p.S230R|ZNF532_uc002lhr.3_Missense_Mutation_p.S228R|ZNF532_uc002lhs.3_Missense_Mutation_p.S228R	NM_018181	NP_060651	Q9HCE3	ZN532_HUMAN	Homo sapiens zinc finger protein 532 (ZNF532), mRNA.	230					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						TGAAGGAAAGCTCTGACAAGG	0.438000														75			7		8.12818e-05	8.84769e-05	1	1	0
ITGB1	3688	broad.mit.edu	37	10	33200467	33200467	+	Missense_Mutation	SNP	C	T	T	rs140200196		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:33200467C>T	uc001iws.4	-	12	1976	c.1840G>A	c.(1840-1842)Gag>Aag	p.E614K	ITGB1_uc001iwr.4_Missense_Mutation_p.E614K|ITGB1_uc001iwt.4_Missense_Mutation_p.E614K	NM_133376	NP_596867	P05556	ITB1_HUMAN	Homo sapiens integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12) (ITGB1), transcript variant 1E, mRNA.	614	Cysteine-rich tandem repeats.				axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response	cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma	identical protein binding|protein heterodimerization activity|receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Ovarian(717;1.34e-05)|Breast(68;0.0634)				ACACCACACTCGCAGATGCCC	0.498000														59			28		0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64473928	64473928	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:64473928T>C	uc001xgl.3	+	30	4795	c.4565T>C	c.(4564-4566)tTg>tCg	p.L1522S	SYNE2_uc001xgm.3_Missense_Mutation_p.L1522S|SYNE2_uc021ruh.1_Missense_Mutation_p.L1522S	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	1522					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		ACCAAAGCCTTGGTCACCGAA	0.378000														106			79		0	0	1	0	0
OR56A3	390083	broad.mit.edu	37	11	5969408	5969408	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:5969408G>A	uc010qzt.2	+	0	832	c.832G>A	c.(832-834)Gtc>Atc	p.V278I		NM_001003443	NP_001003443	Q8NH54	O56A3_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily A, member 3 (OR56A3), mRNA.	278					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGATGTGCCAGTCTTGCTCAA	0.483000														88			63		0	0	1	0	0
HERC6	55008	broad.mit.edu	37	4	89319298	89319298	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:89319298C>T	uc011cdi.2	+	7	1212	c.1029C>T	c.(1027-1029)ttC>ttT	p.F343F	HERC6_uc003hrp.1_Non-coding_Transcript|HERC6_uc011cdj.2_Silent_p.F343F|HERC6_uc011cdk.2_Non-coding_Transcript|HERC6_uc011cdl.2_Non-coding_Transcript	NM_017912	NP_060382	Q8IVU3	HERC6_HUMAN	Homo sapiens hect domain and RLD 6 (HERC6), transcript variant 1, mRNA.	343			F -> L (in dbSNP:rs17014118).		protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytosol	ubiquitin-protein ligase activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000222)		TTTTAGACTTCGTGGATGTTC	0.294000														11			5		0	0	1	0	0
OAT	4942	broad.mit.edu	37	10	126094005	126094005	+	Splice_Site	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:126094005C>A	uc001lhp.3	-	5	781	c.648_splice	c.e5+1	p.E216_splice	OAT_uc001lhr.3_Splice_Site_p.E78_splice|OAT_uc001lhq.3_Splice_Site	NM_000274	NP_001165285	P04181	OAT_HUMAN	Homo sapiens ornithine aminotransferase (OAT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	216					cellular amino acid biosynthetic process|visual perception	mitochondrial matrix	ornithine-oxo-acid transaminase activity|protein binding|pyridoxal phosphate binding			endometrium(2)|large_intestine(1)|lung(2)	5		all_lung(145;0.0271)|Lung NSC(174;0.0436)|Colorectal(57;0.102)|all_neural(114;0.116)			L-Ornithine(DB00129)|Pyridoxal Phosphate(DB00114)	AGTGAAATACCTCCAGTGCGG	0.393000														52			8		1.12685e-05	1.25391e-05	1	1	0
ANGPTL4	51129	broad.mit.edu	37	19	8430878	8430878	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:8430878T>C	uc002mjq.1	+	1	554	c.359T>C	c.(358-360)tTc>tCc	p.F120S	ANGPTL4_uc002mjr.1_Missense_Mutation_p.F120S|ANGPTL4_uc010xkc.1_5'UTR	NM_139314	NP_647475	Q9BY76	ANGL4_HUMAN	Homo sapiens angiopoietin-like 4 (ANGPTL4), transcript variant 1, mRNA.	120					angiogenesis|cell differentiation|cellular lipid metabolic process|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|positive regulation of angiogenesis|response to hypoxia|signal transduction|triglyceride homeostasis	extracellular space|proteinaceous extracellular matrix	enzyme inhibitor activity|receptor binding			large_intestine(1)|lung(1)|ovary(2)|skin(2)	6						CAGCAACTCTTCCACAAGGTG	0.552000														17			16		0	0	1	0	0
CECR2	27443	broad.mit.edu	37	22	18028274	18028274	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:18028274G>A	uc010gqw.1	+	15	3225	c.3225G>A	c.(3223-3225)gcG>gcA	p.A1075A	CECR2_uc010gqv.1_Silent_p.A935A|CECR2_uc002zml.2_Silent_p.A936A|CECR2_uc002zmo.2_Non-coding_Transcript	NM_031413	NP_113601	Q9BXF3	CECR2_HUMAN	Homo sapiens cat eye syndrome chromosome region, candidate 2 (CECR2), mRNA.	1119					DNA fragmentation involved in apoptotic nuclear change|chromatin modification|cytokinesis|cytoskeleton organization|vesicle-mediated transport		protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		AGAACGCAGCGACACCGCCCA	0.607000														12			9		0	0	1	0	0
PRR5L	79899	broad.mit.edu	37	11	36472881	36472881	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:36472881G>A	uc001mwo.4	+	7	1097	c.708G>A	c.(706-708)acG>acA	p.T236T	PRR5L_uc001mwp.3_Silent_p.T236T|PRR5L_uc009ykk.3_Silent_p.T108T|PRR5L_uc010rfc.2_Intron	NM_001160167	NP_079117	Q6MZQ0	PRR5L_HUMAN	Homo sapiens proline rich 5 like (PRR5L), transcript variant 1, mRNA.	236										breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)	19						CCACGTACACGCTGGGTAAGG	0.517000														47			21		0	0	1	0	0
CCDC138	165055	broad.mit.edu	37	2	109411018	109411018	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:109411018C>A	uc002ten.1	+	4	477	c.417C>A	c.(415-417)acC>acA	p.T139T	CCDC138_uc002teo.1_Silent_p.T139T|CCDC138_uc002tep.1_5'UTR|CCDC138_uc010fjm.1_5'UTR	NM_144978	NP_659415	Q96M89	CC138_HUMAN	Homo sapiens coiled-coil domain containing 138 (CCDC138), mRNA.	139										endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	14						CTAATACGACCTCATCGAGAC	0.388000														57			5		2.0095e-06	2.27092e-06	1	1	0
DSCAM	1826	broad.mit.edu	37	21	41516605	41516605	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:41516605G>A	uc002yyq.1	-	16	3524	c.3072C>T	c.(3070-3072)taC>taT	p.Y1024Y	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	1024	Fibronectin type-III 2.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TGTACTCTCGGTAACCTATTT	0.453000														57			5		0	0	1	0	0
PCNXL2	80003	broad.mit.edu	37	1	233344278	233344278	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:233344278C>A	uc001hvl.2	-	12	3084	c.2849G>T	c.(2848-2850)aGg>aTg	p.R950M	PCNXL2_uc009xfu.3_Non-coding_Transcript|PCNXL2_uc001hvp.1_Non-coding_Transcript|PCNXL2_uc009xfv.1_Non-coding_Transcript|PCNXL2_uc001hvq.1_Missense_Mutation_p.R249M	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA.	950						integral to membrane		p.R950M(2)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				TAAGTAGTCCCTAGCTGATTG	0.463000														30			6		0.0215528	0.0220531	1	1	0
SPTBN1	6711	broad.mit.edu	37	2	54845255	54845255	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:54845255G>A	uc002rxu.3	+	6	937	c.688G>A	c.(688-690)Gca>Aca	p.A230T	SPTBN1_uc002rxv.1_Missense_Mutation_p.A230T|SPTBN1_uc002rxx.3_Missense_Mutation_p.A217T	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 1 (SPTBN1), transcript variant 1, mRNA.	230	Actin-binding.|CH 2.				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			GAAATCTAACGCACACTACAA	0.438000														51			15		0	0	1	0	0
HACE1	57531	broad.mit.edu	37	6	105291136	105291136	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:105291136C>T	uc003pqu.1	-	4	641	c.364G>A	c.(364-366)Gct>Act	p.A122T	HACE1_uc010kcy.1_5'UTR|HACE1_uc010kcz.1_Missense_Mutation_p.A122T	NM_020771	NP_065822	Q8IYU2	HACE1_HUMAN	Homo sapiens HECT domain and ankyrin repeat containing, E3 ubiquitin protein ligase 1 (HACE1), mRNA.	122					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	endoplasmic reticulum	ubiquitin-protein ligase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)		TTGACATCAGCGCTATATTCT	0.279000														98			32		0	0	1	0	0
ITGAE	3682	broad.mit.edu	37	17	3658554	3658554	+	Splice_Site	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:3658554C>T	uc002fwo.4	-	12	1339	c.1240_splice	c.e12-1	p.R414_splice		NM_002208	NP_002199	P38570	ITAE_HUMAN	Homo sapiens integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide) (ITGAE), mRNA.	414					cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		CAGCACCTGCCGCTGAAGGGG	0.731000														3			3		0	0	1	0	0
LRRC36	55282	broad.mit.edu	37	16	67401011	67401011	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:67401011G>A	uc002esv.3	+	7	865	c.846G>A	c.(844-846)aaG>aaA	p.K282K	LRRC36_uc002esw.3_Intron|LRRC36_uc010ceh.3_Intron|LRRC36_uc002esx.3_Silent_p.K161K|LRRC36_uc010vjk.2_Silent_p.K161K|LRRC36_uc010vjl.2_Intron	NM_018296	NP_060766	Q1X8D7	LRC36_HUMAN	Homo sapiens leucine rich repeat containing 36 (LRRC36), transcript variant 1, mRNA.	282										endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	24		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161)		TGGACAATAAGTCTTCAGGTT	0.433000														72			56		0	0	1	0	0
NUP214	8021	broad.mit.edu	37	9	134049645	134049645	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:134049645G>T	uc004cag.3	+	21	3208	c.3097G>T	c.(3097-3099)Gca>Tca	p.A1033S	NUP214_uc004cah.3_Missense_Mutation_p.A1023S|NUP214_uc004cai.3_Missense_Mutation_p.A463S|NUP214_uc004caf.1_Missense_Mutation_p.A1022S|NUP214_uc010mzf.3_Missense_Mutation_p.A331S	NM_005085	NP_005076	P35658	NU214_HUMAN	Homo sapiens nucleoporin 214kDa (NUP214), mRNA.	1033	11 X 5 AA approximate repeats.				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		GCCCCATGCAGCACCTTTTGC	0.532000			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""									74			8		0.0381472	0.0388409	1	1	0
SCML2	10389	broad.mit.edu	37	X	18264933	18264933	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:18264933G>A	uc004cyl.2	-	12	1743	c.1586C>T	c.(1585-1587)gCt>gTt	p.A529V	SCML2_uc004cyk.3_Non-coding_Transcript|SCML2_uc010nfd.1_Missense_Mutation_p.A529V|SCML2_uc011miz.1_Missense_Mutation_p.A463V|SCML2_uc010nfc.2_Missense_Mutation_p.A265V	NM_006089	NP_006080	Q9UQR0	SCML2_HUMAN	Homo sapiens sex comb on midleg-like 2 (Drosophila) (SCML2), transcript variant 1, mRNA.	529					anatomical structure morphogenesis	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	36	Hepatocellular(33;0.183)					ACTTCCCCCAGCAAACAATGG	0.378000														149			14		0	0	1	0	0
TNFRSF21	27242	broad.mit.edu	37	6	47253823	47253823	+	Missense_Mutation	SNP	G	A	A	rs146113475	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:47253823G>A	uc003oyv.3	-	1	1038	c.605C>T	c.(604-606)cCg>cTg	p.P202L		NM_014452	NP_055267	O75509	TNR21_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 21 (TNFRSF21), mRNA.	202					cellular lipid metabolic process	cytoplasm|integral to membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21			Lung(136;0.189)			CTTGGTCCCCGGCTTGATCAC	0.557000														42			9		0	0	1	0	0
RFC4	5984	broad.mit.edu	37	3	186522416	186522416	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:186522416G>A	uc003fqz.3	-	1	310	c.87C>T	c.(85-87)agC>agT	p.S29S	RFC4_uc011bsc.2_Silent_p.S29S|RFC4_uc011bsd.2_Silent_p.S29S	NM_002916	NP_853551	P35249	RFC4_HUMAN	Homo sapiens replication factor C (activator 1) 4, 37kDa (RFC4), transcript variant 1, mRNA.	29					DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle|cell cycle checkpoint|nucleotide-excision repair, DNA gap filling|phosphatidylinositol-mediated signaling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|protein binding			breast(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_cancers(143;2.92e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)	GBM - Glioblastoma multiforme(93;0.0739)		TGTTCTCTCCGCTACTTCCCG	0.438000														85			73		0	0	1	0	0
B3GALNT2	148789	broad.mit.edu	37	1	235647671	235647671	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:235647671G>A	uc001hxc.2	-	3	751	c.522C>T	c.(520-522)aaC>aaT	p.N174N	B3GALNT2_uc001hxd.1_Silent_p.N215N	NM_152490	NP_689703	Q8NCR0	B3GL2_HUMAN	Homo sapiens beta-1,3-N-acetylgalactosaminyltransferase 2 (B3GALNT2), mRNA.	174					protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	18	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.0539)|Prostate(94;0.0353)	OV - Ovarian serous cystadenocarcinoma(106;0.000117)			TGACAGTGATGTTCCTCTGGA	0.423000														72			44		0	0	1	0	0
HDGFRP2	84717	broad.mit.edu	37	19	4491791	4491791	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:4491791C>T	uc002mao.3	+	5	730	c.637C>T	c.(637-639)Cgg>Tgg	p.R213W	HDGFRP2_uc002map.3_Missense_Mutation_p.R213W|HDGFRP2_uc010dtz.1_Non-coding_Transcript	NM_001001520	NP_001001520	Q7Z4V5	HDGR2_HUMAN	Homo sapiens hepatoma-derived growth factor-related protein 2 (HDGFRP2), transcript variant 1, mRNA.	213	Ser-rich.				transcription, DNA-dependent	nucleus	DNA binding|protein binding										AGCAGCGGTCCGGGCGCCACG	0.627000														39			45		0	0	1	0	0
BACE2	25825	broad.mit.edu	37	21	42622809	42622809	+	Missense_Mutation	SNP	G	A	A	rs149731757		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:42622809G>A	uc002yyw.3	+	6	1578	c.1115G>A	c.(1114-1116)cGt>cAt	p.R372H	BACE2_uc002yyx.3_Intron|BACE2_uc002yyy.3_Missense_Mutation_p.R372H|BACE2_uc010goo.3_Intron	NM_012105	NP_036237	Q9Y5Z0	BACE2_HUMAN	Homo sapiens beta-site APP-cleaving enzyme 2 (BACE2), transcript variant a, mRNA.	372					membrane protein ectodomain proteolysis|negative regulation of amyloid precursor protein biosynthetic process|peptide hormone processing	Golgi apparatus|cell surface|endoplasmic reticulum|endosome|integral to membrane	aspartic-type endopeptidase activity			endometrium(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14		Prostate(19;1.57e-07)|all_epithelial(19;0.0251)				AGGTCATTCCGTATCACAATC	0.468000														21			11		0	0	1	0	0
HADHA	3030	broad.mit.edu	37	2	26424180	26424180	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:26424180G>A	uc002rgy.3	-	12	1360	c.1230C>T	c.(1228-1230)gaC>gaT	p.D410D	HADHA_uc010yks.2_Silent_p.D323D	NM_000182	NP_000173	P40939	ECHA_HUMAN	Homo sapiens hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit (HADHA), nuclear gene encoding mitochondrial protein, mRNA.	410					fatty acid beta-oxidation	fatty acid beta-oxidation multienzyme complex|mitochondrial nucleoid|nucleolus	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acetyltransferase activity|coenzyme binding|enoyl-CoA hydratase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity|protein binding			autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(4)|skin(1)	30	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				NADH(DB00157)	TCTTCACTTTGTCATTCAATC	0.403000														53			6		0	0	1	0	0
SLC12A7	10723	broad.mit.edu	37	5	1053494	1053494	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:1053494G>A	uc003jbu.3	-	22	3196	c.3130C>T	c.(3130-3132)Cct>Tct	p.P1044S		NM_006598	NP_006589	Q9Y666	S12A7_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 7 (SLC12A7), mRNA.	1044					potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	TTTTTGGGAGGACCTGGCATG	0.602000														24			11		0	0	1	0	0
TSPAN6	7105	broad.mit.edu	37	X	99887565	99887565	+	Splice_Site	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:99887565C>A	uc004ega.1	-	6	689	c.586_splice	c.e6-1	p.G196_splice	TSPAN6_uc010nna.1_Splice_Site_p.G102_splice	NM_003270	NP_003261	O43657	TSN6_HUMAN	Homo sapiens tetraspanin 6 (TSPAN6), mRNA.	196					positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	signal transducer activity			endometrium(2)|kidney(3)|large_intestine(6)|ovary(1)	12						ATAAAACAACCCTAATGGGAG	0.353000														14			12		4.3838e-07	5.01911e-07	1	1	0
SUPT5H	6829	broad.mit.edu	37	19	39959494	39959494	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:39959494C>T	uc002olo.4	+	13	1315	c.1136C>T	c.(1135-1137)tCt>tTt	p.S379F	SUPT5H_uc002olp.4_Missense_Mutation_p.S379F|SUPT5H_uc002olq.4_Missense_Mutation_p.S375F|SUPT5H_uc002oln.4_Missense_Mutation_p.S379F|SUPT5H_uc002olr.4_Missense_Mutation_p.S379F|SUPT5H_uc002ols.1_Missense_Mutation_p.S2F|SUPT5H_uc010egp.1_5'Flank	NM_001111020	NP_003160	O00267	SPT5H_HUMAN	Homo sapiens suppressor of Ty 5 homolog (S. cerevisiae) (SUPT5H), transcript variant 2, mRNA.	379	Interaction with RNA polymerase II.				cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TTCGCCATGTCTGCTGTGGTG	0.572000														36			18		0	0	1	0	0
TNC	3371	broad.mit.edu	37	9	117819616	117819616	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:117819616G>A	uc004bjj.4	-	14	4807	c.4395C>T	c.(4393-4395)ttC>ttT	p.F1465F	TNC_uc010mvf.3_Intron|TNC_uc022bmj.1_Silent_p.F1101F	NM_002160	NP_002151	P24821	TENA_HUMAN	Homo sapiens tenascin C (TNC), mRNA.	1465	Fibronectin type-III 10.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						TAAAGGTCTCGAAGATCCCAT	0.423000														136			78		0	0	1	0	0
CACNB4	785	broad.mit.edu	37	2	152729007	152729007	+	Splice_Site	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:152729007C>T	uc002tya.3	-	6	590	c.522_splice	c.e6-1	p.G174_splice	CACNB4_uc002txy.3_Splice_Site_p.G140_splice|CACNB4_uc002txz.3_Splice_Site_p.G156_splice|CACNB4_uc010fnz.3_Splice_Site_p.G174_splice|CACNB4_uc021vre.1_Splice_Site_p.G140_splice|CACNB4_uc002tyb.2_Splice_Site_p.G140_splice	NM_000726	NP_000717	O00305	CACB4_HUMAN	Homo sapiens calcium channel, voltage-dependent, beta 4 subunit (CACNB4), transcript variant 2, mRNA.	174					axon guidance|membrane depolarization|synaptic transmission	cytosol|internal side of plasma membrane|plasma membrane|synapse|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11				BRCA - Breast invasive adenocarcinoma(221;0.156)	Verapamil(DB00661)	CACTTGATTTCCTAGGATATA	0.383000														44			27		0	0	1	0	0
RGS19	10287	broad.mit.edu	37	20	62705659	62705659	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:62705659T>C	uc002yhy.3	-	4	567	c.300A>G	c.(298-300)ggA>ggG	p.G100G	RGS19_uc002yhz.3_Silent_p.G78G|RGS19_uc002yib.3_Silent_p.G100G	NM_005873	NP_001034556	P49795	RGS19_HUMAN	Homo sapiens regulator of G-protein signaling 19 (RGS19), transcript variant 1, mRNA.	100	RGS.				G-protein coupled receptor protein signaling pathway|autophagy|negative regulation of signal transduction|small GTPase mediated signal transduction	Golgi apparatus|membrane fraction|plasma membrane	GTPase activator activity|protein binding|signal transducer activity			lung(1)|prostate(1)|skin(1)	3	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)					ACACGCTGCGTCCCGCTGGGC	0.632000														19			5		0	0	1	0	0
FBLN2	2199	broad.mit.edu	37	3	13679300	13679300	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:13679300C>T	uc011avc.2	+	17	3959	c.3577C>T	c.(3577-3579)Cgg>Tgg	p.R1193W	FBLN2_uc011auz.2_Missense_Mutation_p.R1172W|FBLN2_uc011avb.2_Missense_Mutation_p.R1146W|FBLN2_uc011ava.2_Missense_Mutation_p.R1193W	NM_001165035	NP_001158507	P98095	FBLN2_HUMAN	Homo sapiens fibulin 2 (FBLN2), transcript variant 3, mRNA.	1146						proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			CTACCTGCAGCGGGCCGTGCT	0.617000														53			10		0	0	1	0	0
HTATSF1	27336	broad.mit.edu	37	X	135593701	135593701	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:135593701C>A	uc004ezw.3	+	9	2219	c.1797C>A	c.(1795-1797)aaC>aaA	p.N599K	HTATSF1_uc004ezx.3_Missense_Mutation_p.N599K	NM_001163280	NP_055315	O43719	HTSF1_HUMAN	Homo sapiens HIV-1 Tat specific factor 1 (HTATSF1), transcript variant 1, mRNA.	599	Asp/Glu-rich (acidic).|Mediates interaction with the P-TEFb complex.				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication	nucleus	RNA binding|nucleotide binding|protein binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30	Acute lymphoblastic leukemia(192;0.000127)					ACTCTGAAAACTCCGAATTTG	0.393000														79			36		6.90743e-12	8.48061e-12	1	1	0
KDM6A	7403	broad.mit.edu	37	X	44919321	44919321	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:44919321C>T	uc011mkz.2	+	12	1624	c.1249C>T	c.(1249-1251)Cct>Tct	p.P417S	KDM6A_uc022bvi.1_Intron|KDM6A_uc010nhk.2_Missense_Mutation_p.P417S|KDM6A_uc004dge.4_Missense_Mutation_p.P417S|KDM6A_uc011mla.2_Intron|KDM6A_uc011mlb.2_Intron|KDM6A_uc011mlc.2_Intron|KDM6A_uc022bvj.1_Intron|KDM6A_uc022bvk.1_Intron|KDM6A_uc011mld.2_Intron	NM_021140	NP_066963	O15550	KDM6A_HUMAN	Homo sapiens lysine (K)-specific demethylase 6A (KDM6A), mRNA.	417					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)|p.0(2)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						TAAATTACTTCCTAGTATTGA	0.433000			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""									17			5		0	0	1	0	0
POT1	25913	broad.mit.edu	37	7	124503570	124503570	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:124503570G>A	uc003vlm.3	-	7	981	c.380C>T	c.(379-381)aCt>aTt	p.T127I	POT1_uc011koe.2_Non-coding_Transcript|POT1_uc003vlk.3_Non-coding_Transcript|POT1_uc003vll.3_Non-coding_Transcript|POT1_uc003vln.3_Non-coding_Transcript|POT1_uc003vlo.3_5'UTR	NM_015450	NP_001036059	Q9NUX5	POTE1_HUMAN	Homo sapiens protection of telomeres 1 homolog (S. pombe) (POT1), transcript variant 1, mRNA.	127					DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase	nuclear telomere cap complex|nucleoplasm	DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						GTGGTCCTCAGTAGTGAAGTT	0.448000														127			38		0	0	1	0	0
UGP2	7360	broad.mit.edu	37	2	64114548	64114548	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:64114548G>T	uc010ypx.2	+	7	1118	c.1111G>T	c.(1111-1113)Ggc>Tgc	p.G371C	UGP2_uc002scl.3_Missense_Mutation_p.G351C|UGP2_uc002scm.3_Missense_Mutation_p.G362C	NM_001001521	NP_001001521	Q16851	UGPA_HUMAN	Homo sapiens UDP-glucose pyrophosphorylase 2 (UGP2), transcript variant 2, mRNA.	362					UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|glycogen biosynthetic process|phosphorylation|xenobiotic metabolic process	cytosol	UTP:glucose-1-phosphate uridylyltransferase activity|metal ion binding|protein binding			endometrium(2)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)	18						TTTGGATGGAGGCCTGAATGT	0.413000														84			8		1.06961e-07	1.2399e-07	1	1	0
GP5	2814	broad.mit.edu	37	3	194117456	194117456	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:194117456C>T	uc003ftv.1	-	1	1587	c.1556G>A	c.(1555-1557)aGt>aAt	p.S519N	GP5_uc021xiz.1_Missense_Mutation_p.S519N	NM_004488	NP_004479	P40197	GPV_HUMAN	Homo sapiens glycoprotein V (platelet) (GP5), mRNA.	519					blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane				breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	35	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)		CCAGAACGGACTATGATCTTG	0.522000														173			12		0	0	1	0	0
CCDC129	223075	broad.mit.edu	37	7	31592682	31592682	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:31592682G>A	uc011kae.2	+	1	134	c.122G>A	c.(121-123)gGc>gAc	p.G41D	CCDC129_uc011kad.1_Missense_Mutation_p.G25D|CCDC129_uc003tcj.1_Missense_Mutation_p.G15D|CCDC129_uc003tci.1_Missense_Mutation_p.G14D|CCDC129_uc003tck.1_5'Flank	NM_194300	NP_919276	Q6ZRS4	CC129_HUMAN	Homo sapiens coiled-coil domain containing 129 (CCDC129), mRNA.	15										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						CTTCAGGAAGGCCAGGAAAAG	0.498000														5			7		0	0	1	0	0
OLFM3	118427	broad.mit.edu	37	1	102270305	102270305	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:102270305C>A	uc001duf.2	-	5	997	c.926G>T	c.(925-927)aGt>aTt	p.S309I	OLFM3_uc001dug.2_Missense_Mutation_p.S289I|OLFM3_uc001duh.2_Non-coding_Transcript|OLFM3_uc001dui.2_Non-coding_Transcript|OLFM3_uc001duj.2_Missense_Mutation_p.S214I|OLFM3_uc001due.2_Non-coding_Transcript	NM_058170	NP_477518	Q96PB7	NOE3_HUMAN	Homo sapiens olfactomedin 3 (OLFM3), mRNA.	309	Olfactomedin-like.					extracellular region				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		GATGATATTACTCTGATACTT	0.433000														67			26		8.58068e-18	1.09608e-17	1	1	0
PER3	8863	broad.mit.edu	37	1	7886619	7886619	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:7886619C>T	uc001aop.3	+	15	2261	c.2037C>T	c.(2035-2037)caC>caT	p.H679H	PER3_uc009vmg.1_Silent_p.H679H|PER3_uc009vmh.1_Silent_p.H672H|PER3_uc001aoo.3_Silent_p.H671H|PER3_uc010nzw.2_Silent_p.H360H	NM_016831	NP_058515	P56645	PER3_HUMAN	Homo sapiens period homolog 3 (Drosophila) (PER3), mRNA.	671	CSNK1E binding domain (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		AATTTAAACACGTGGGGCTCA	0.512000														40			7		0	0	1	0	0
CPB2	1361	broad.mit.edu	37	13	46638873	46638873	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:46638873G>A	uc001vaw.3	-	7	773	c.706C>T	c.(706-708)Cga>Tga	p.R236*	AK124928_uc001vau.1_Intron|AK124928_uc001vav.1_Intron|CPB2_uc001vax.3_Nonsense_Mutation_p.R199*	NM_001872	NP_001863	Q96IY4	CBPB2_HUMAN	Homo sapiens carboxypeptidase B2 (plasma) (CPB2), transcript variant 1, mRNA.	236					blood coagulation|fibrinolysis|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|cervix(1)|large_intestine(3)|liver(1)|lung(9)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.44e-05)		CTCCACATTCGATTCTACATA	0.423000														21			15		0	0	1	0	0
WSB1	26118	broad.mit.edu	37	17	25639315	25639315	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:25639315C>T	uc002gzd.1	+	8	1502	c.1186C>T	c.(1186-1188)Cga>Tga	p.R396*	WSB1_uc002gze.1_Nonsense_Mutation_p.R250*|WSB1_uc002gzf.1_Non-coding_Transcript	NM_015626	NP_056441	Q9Y6I7	WSB1_HUMAN	Homo sapiens WD repeat and SOCS box containing 1 (WSB1), transcript variant 1, mRNA.	396	SOCS box.				intracellular signal transduction	intracellular	protein binding			lung(3)	3	all_cancers(1;2e-13)|all_epithelial(1;4.8e-15)|Lung NSC(42;0.00152)		BRCA - Breast invasive adenocarcinoma(3;0.0152)	UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		CATGTCAATCCGAAGAGTGAT	0.473000														222			134		0	0	1	0	0
CREBBP	1387	broad.mit.edu	37	16	3817888	3817888	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:3817888C>T	uc002cvv.3	-	15	3287	c.3083G>A	c.(3082-3084)gGa>gAa	p.G1028E	CREBBP_uc002cvw.3_Missense_Mutation_p.G990E	NM_004380	NP_004371	Q92793	CBP_HUMAN	Homo sapiens CREB binding protein (CREBBP), transcript variant 1, mRNA.	1028					N-terminal peptidyl-lysine acetylation|cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	MyoD binding|histone acetyltransferase activity|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)		TTGGGAAGCTCCTTGCAAATC	0.383000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome							88			47		0	0	1	0	0
ZFAND6	54469	broad.mit.edu	37	15	80423623	80423623	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:80423623G>A	uc002bfe.2	+	5	888	c.466G>A	c.(466-468)Gtg>Atg	p.V156M	ZFAND6_uc021srv.1_Intron|ZFAND6_uc021srw.1_Missense_Mutation_p.V156M|ZFAND6_uc002bfg.2_Missense_Mutation_p.V144M|ZFAND6_uc002bff.2_Missense_Mutation_p.V156M|ZFAND6_uc021srx.1_Missense_Mutation_p.V156M|ZFAND6_uc021sry.1_Missense_Mutation_p.V156M|ZFAND6_uc002bfh.2_Missense_Mutation_p.V156M|ZFAND6_uc002bfi.2_Missense_Mutation_p.V156M	NM_019006	NP_061879	Q6FIF0	ZFAN6_HUMAN	Homo sapiens zinc finger, AN1-type domain 6 (ZFAND6), transcript variant 1, mRNA.	156							DNA binding|zinc ion binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	11						CAGGAAGAAAGTGGGACTTAC	0.348000														40			23		0	0	1	0	0
MCM3AP	8888	broad.mit.edu	37	21	47671534	47671534	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:47671534G>T	uc002zir.1	-	19	4235	c.4199C>A	c.(4198-4200)tCc>tAc	p.S1400Y	MCM3AP-AS1_uc002zim.2_Non-coding_Transcript|MCM3AP-AS1_uc002zin.2_3'UTR|MCM3AP_uc002zip.1_Missense_Mutation_p.S141Y|MCM3AP_uc002ziq.1_Missense_Mutation_p.S327Y|MCM3AP-AS1_uc002zis.1_Non-coding_Transcript	NM_003906	NP_003897	O60318	MCM3A_HUMAN	Homo sapiens minichromosome maintenance complex component 3 associated protein (MCM3AP), mRNA.	1400					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					AGCATCGCTGGATGTGTCATC	0.378000														30			16		4.75885e-15	5.98547e-15	1	1	0
FMO2	2327	broad.mit.edu	37	1	171173168	171173168	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:171173168C>T	uc001ghk.1	+	5	909	c.792C>T	c.(790-792)ttC>ttT	p.F264F	FMO2_uc010pmd.1_Silent_p.F44F	NM_001460	NP_001451	Q99518	FMO2_HUMAN	Homo sapiens flavin containing monooxygenase 2 (non-functional) (FMO2), mRNA.	264					NADPH oxidation|drug metabolic process|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome	NADP binding|flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					ATCGGTGGTTCAACCATGAAA	0.433000														39			16		0	0	1	0	0
CTBP1	1487	broad.mit.edu	37	4	1209931	1209931	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:1209931C>T	uc003gcw.3	-	4	775	c.610G>A	c.(610-612)Gac>Aac	p.D204N	AX747592_uc003gcs.1_Non-coding_Transcript|CTBP1_uc003gcu.1_Missense_Mutation_p.D193N|CTBP1_uc003gcv.1_Missense_Mutation_p.D204N	NM_001328	NP_001319	Q13363	CTBP1_HUMAN	Homo sapiens C-terminal binding protein 1 (CTBP1), transcript variant 1, mRNA.	204					interspecies interaction between organisms|negative regulation of cell proliferation|negative regulation of histone H4 acetylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone deacetylation|protein phosphorylation|regulation of cell cycle|regulation of transcription by chromatin organization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|viral genome replication|white fat cell differentiation	cytoplasm|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein C-terminus binding|protein domain specific binding|transcription factor binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	8			OV - Ovarian serous cystadenocarcinoma(23;0.00818)	Colorectal(103;0.2)		AAGTAAGGGTCGTAGAAGAGC	0.652000														7			11		0	0	1	0	0
LXN	56925	broad.mit.edu	37	3	158384464	158384464	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:158384464G>A	uc003fch.3	-	5	855	c.640C>T	c.(640-642)Cgt>Tgt	p.R214C	GFM1_uc003fcd.3_Intron|GFM1_uc003fce.3_Intron|GFM1_uc003fcg.3_Intron	NM_020169	NP_064554	Q9BS40	LXN_HUMAN	Homo sapiens latexin (LXN), mRNA.	214						cytoplasm	metalloendopeptidase inhibitor activity|protein binding			breast(2)|endometrium(1)|kidney(2)	5			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)			TTTGGCAGACGGCTATTATGT	0.388000														35			22		0	0	1	0	0
ATRX	546	broad.mit.edu	37	X	76939695	76939695	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:76939695C>A	uc004ecp.4	-	8	1285	c.1053G>T	c.(1051-1053)gaG>gaT	p.E351D	ATRX_uc004ecq.4_Missense_Mutation_p.E313D|ATRX_uc004eco.4_Missense_Mutation_p.E136D|ATRX_uc004ecr.2_Missense_Mutation_p.E312D|ATRX_uc010nlx.1_Missense_Mutation_p.E351D|ATRX_uc010nly.1_Missense_Mutation_p.E296D	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	351					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TCTTAATCATCTCTTTGGGCA	0.353000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome							76			44		4.14194e-30	5.46336e-30	1	1	0
KIAA1009	22832	broad.mit.edu	37	6	84865120	84865120	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:84865120A>C	uc010kbp.3	-	21	2988	c.2891T>G	c.(2890-2892)tTt>tGt	p.F964C	KIAA1009_uc003pkj.4_Missense_Mutation_p.F888C|KIAA1009_uc003pki.4_Missense_Mutation_p.F350C	NM_014895	NP_055710	Q5TB80	QN1_HUMAN	Homo sapiens KIAA1009 (KIAA1009), mRNA.	964					cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		TTTCTCCATAAATTCCACTGT	0.388000														61			5		0	0	1	0	0
UBR1	197131	broad.mit.edu	37	15	43350539	43350539	+	Splice_Site	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:43350539C>A	uc001zqq.3	-	10	1248	c.1182_splice	c.e10+1	p.K394_splice	UBR1_uc010udk.1_Splice_Site_p.K394_splice	NM_174916	NP_777576	Q8IWV7	UBR1_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 1 (UBR1), mRNA.	394					cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		AAATAATTACCTTCACAAATT	0.254000														30			4		0.00909568	0.00940365	1	1	0
C6orf89	221477	broad.mit.edu	37	6	36870003	36870003	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:36870003G>A	uc003omw.3	+	2	380	c.217G>A	c.(217-219)Gca>Aca	p.A73T	C6orf89_uc003omv.3_Intron|C6orf89_uc003omx.3_Missense_Mutation_p.A66T|C6orf89_uc011dtr.2_Intron	NM_152734	NP_689947	Q6UWU4	CF089_HUMAN	Homo sapiens chromosome 6 open reading frame 89 (C6orf89), mRNA.	66						integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(2)	15						GTAGGTTCTCGCAACCTTGGG	0.428000														42			19		0	0	1	0	0
PCBP4	57060	broad.mit.edu	37	3	51993277	51993277	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:51993277G>A	uc003dcc.2	-	6	1452	c.731C>T	c.(730-732)gCg>gTg	p.A244V	PCBP4_uc003dcb.2_Missense_Mutation_p.A189V|PCBP4_uc003dcf.2_Missense_Mutation_p.A223V|PCBP4_uc003dce.2_Silent_p.C224C|PCBP4_uc003dcg.2_Missense_Mutation_p.A189V|PCBP4_uc003dcj.2_Missense_Mutation_p.A223V|PCBP4_uc003dck.2_Missense_Mutation_p.A180V|PCBP4_uc003dch.2_Missense_Mutation_p.A223V|PCBP4_uc003dci.2_Missense_Mutation_p.A63V			P57723	PCBP4_HUMAN	Homo sapiens poly(rC) binding protein 4 (PCBP4), transcript variant 4, mRNA.	223	KH 3.					cytoplasm|ribonucleoprotein complex	DNA binding|RNA binding			endometrium(2)|large_intestine(2)|lung(2)|prostate(1)|stomach(1)	8				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		AAAGGGGACCGCATGGCTTGA	0.637000														33			13		0	0	1	0	0
SPEF2	79925	broad.mit.edu	37	5	35654816	35654816	+	Silent	SNP	C	T	T	rs139014576		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:35654816C>T	uc003jjo.3	+	6	1077	c.966C>T	c.(964-966)caC>caT	p.H322H	SPEF2_uc003jjn.1_Silent_p.H322H|SPEF2_uc003jjq.4_Silent_p.H322H	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA.	322					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity	p.A321A(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TAATAGCCCACGAAGCACAAG	0.363000														32			19		0	0	1	0	0
C14orf37	145407	broad.mit.edu	37	14	58605246	58605246	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:58605246G>T	uc010tro.2	-	2	1143	c.945C>A	c.(943-945)tcC>tcA	p.S315S	C14orf37_uc001xdc.3_Silent_p.S277S|C14orf37_uc001xdd.3_Silent_p.S277S|C14orf37_uc001xde.3_Silent_p.S277S	NM_001001872	NP_001001872	Q86TY3	CN037_HUMAN	Homo sapiens chromosome 14 open reading frame 37 (C14orf37), mRNA.	277						integral to membrane	binding			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						GGGTGTACTCGGAAGTTTCGA	0.552000														34			29		9.80776e-20	1.26334e-19	1	1	0
THADA	63892	broad.mit.edu	37	2	43458140	43458140	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:43458140A>C	uc002rsw.4	-	37	6161	c.5809T>G	c.(5809-5811)Tct>Gct	p.S1937A	THADA_uc010far.3_Missense_Mutation_p.S1132A|THADA_uc002rsx.4_Missense_Mutation_p.S1937A|THADA_uc002rsy.4_Non-coding_Transcript	NM_001083953	NP_071348	Q6YHU6	THADA_HUMAN	Homo sapiens thyroid adenoma associated (THADA), transcript variant 3, mRNA.	1937							binding			breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				TCTGCATAAGAGTCCCAAACA	0.483000														31			4		0	0	1	0	0
MKI67	4288	broad.mit.edu	37	10	129901433	129901433	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:129901433G>A	uc001lke.3	-	12	8866	c.8671C>T	c.(8671-8673)Cgg>Tgg	p.R2891W	MKI67_uc001lkf.3_Missense_Mutation_p.R2531W|MKI67_uc009yav.1_Missense_Mutation_p.R2466W|MKI67_uc009yaw.1_Missense_Mutation_p.R2041W	NM_002417	NP_002408	P46013	KI67_HUMAN	Homo sapiens antigen identified by monoclonal antibody Ki-67 (MKI67), transcript variant 1, mRNA.	2891	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	p.R2891L(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TCCAGCTTCCGCTTTGCAGGT	0.547000														86			67		0	0	1	0	0
FRMD6	122786	broad.mit.edu	37	14	52194543	52194543	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:52194543C>T	uc001wzd.3	+	13	1950	c.1665C>T	c.(1663-1665)ttC>ttT	p.F555F	FRMD6_uc001wzb.3_Silent_p.F547F|FRMD6_uc001wzc.3_Silent_p.F547F|FRMD6_uc001wze.3_Silent_p.F478F|FRMD6_uc001wzf.3_Silent_p.F248F|FRMD6_uc001wzg.3_Silent_p.F197F	NM_152330	NP_689543	Q96NE9	FRMD6_HUMAN	Homo sapiens FERM domain containing 6 (FRMD6), transcript variant 2, mRNA.	555						cytoskeleton|mitochondrion|plasma membrane	binding			breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_epithelial(31;0.0163)|Breast(41;0.089)					AGAAAGACTTCCTGCGCATTG	0.488000														70			32		0	0	1	0	0
PCDH1	5097	broad.mit.edu	37	5	141244899	141244899	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:141244899C>T	uc003llp.3	-	2	1114	c.997G>A	c.(997-999)Gac>Aac	p.D333N	PCDH1_uc011dbf.2_Missense_Mutation_p.D311N|PCDH1_uc003llq.3_Missense_Mutation_p.D333N	NM_032420	NP_115796	Q08174	PCDH1_HUMAN	Homo sapiens protocadherin 1 (PCDH1), transcript variant 2, mRNA.	333	Cadherin 3.				cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		GTGTTCCTGTCCAGTCGAAGA	0.557000														48			21		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140257242	140257242	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140257242G>A	uc003lic.2	+	0	2312	c.2185G>A	c.(2185-2187)Gtg>Atg	p.V729M	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc011daf.2_Missense_Mutation_p.V729M	NM_018903	NP_061726	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 12 (PCDHA12), transcript variant 1, mRNA.	737					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)			GCCGCCCACCGTGAGCCGGTG	0.647000														11			18		0	0	1	0	0
NLRP8	126205	broad.mit.edu	37	19	56487536	56487536	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:56487536G>T	uc002qmh.3	+	7	2814	c.2743G>T	c.(2743-2745)Gat>Tat	p.D915Y	NLRP8_uc010etg.3_Missense_Mutation_p.D896Y	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA.	915						cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		TTGCTGTCAGGATATGATCTC	0.398000														55			38		3.09479e-21	4.0038e-21	1	1	0
GRHL3	57822	broad.mit.edu	37	1	24673118	24673118	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:24673118C>T	uc021oiw.1	+	12	1760	c.1530C>T	c.(1528-1530)ggC>ggT	p.G510G	GRHL3_uc001bix.3_Silent_p.G510G|GRHL3_uc021oix.1_Silent_p.G464G|GRHL3_uc001biy.3_Silent_p.G515G|GRHL3_uc001biz.3_Silent_p.G417G	NM_198174	NP_937817	Q8TE85	GRHL3_HUMAN	Homo sapiens grainyhead-like 3 (Drosophila) (GRHL3), transcript variant 3, mRNA.	510					regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		CCAAGGAAGGCGACCTTCAGA	0.632000														14			6		0	0	1	0	0
MSANTD3-TMEFF1	100526694	broad.mit.edu	37	9	103338803	103338803	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:103338803G>A	uc004bay.2	+	9	1319	c.1286G>A	c.(1285-1287)tGc>tAc	p.C429Y	MSANTD3-TMEFF1_uc004baz.2_Missense_Mutation_p.C355Y|MURC_uc004bba.3_5'Flank	NM_001198812	NP_001185741	Q8IYR6	TEFF1_HUMAN	Homo sapiens C9orf30-TMEFF1 readthrough (C9orf30-TMEFF1), mRNA.	355					multicellular organismal development	integral to membrane|plasma membrane											AACAGAAAATGCCCCAAAAAC	0.318000														40			31		0	0	1	0	0
KANK1	23189	broad.mit.edu	37	9	711585	711585	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:711585C>T	uc003zgl.1	+	6	1468	c.819C>T	c.(817-819)cgC>cgT	p.R273R	KANK1_uc003zgm.3_Silent_p.R273R|KANK1_uc003zgn.1_Silent_p.R273R|KANK1_uc003zgo.1_Silent_p.R273R|KANK1_uc003zgp.1_Silent_p.R273R|KANK1_uc003zgq.2_Silent_p.R115R|KANK1_uc003zgr.1_Silent_p.R115R|KANK1_uc003zgs.1_Silent_p.R115R	NM_015158	NP_055973	Q14678	KANK1_HUMAN	Homo sapiens KN motif and ankyrin repeat domains 1 (KANK1), transcript variant 1, mRNA.	273					negative regulation of actin filament polymerization	cytoplasm				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		CTCTGAAACGCCTGAAGGAGC	0.572000														36			18		0	0	1	0	0
C9orf43	257169	broad.mit.edu	37	9	116187329	116187329	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:116187329A>G	uc004bhp.3	+	8	1284	c.838A>G	c.(838-840)Aag>Gag	p.K280E	C9orf43_uc004bho.4_Missense_Mutation_p.K280E	NM_152786	NP_689999	Q8TAL5	CI043_HUMAN	Homo sapiens chromosome 9 open reading frame 43 (C9orf43), mRNA.	280										breast(2)|large_intestine(6)|lung(2)|ovary(1)|pancreas(1)|prostate(3)	15						TGAACGTTTGAAGAAATTACA	0.413000														62			4		0	0	1	0	0
C15orf55	256646	broad.mit.edu	37	15	34647979	34647979	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:34647979C>A	uc010ucc.2	+	7	2152	c.1770C>A	c.(1768-1770)agC>agA	p.S590R	C15orf55_uc010ucd.2_Missense_Mutation_p.S580R|C15orf55_uc001zif.3_Missense_Mutation_p.S562R	NM_175741	NP_786883	Q86Y26	NUT_HUMAN	Homo sapiens chromosome 15 open reading frame 55 (C15orf55), mRNA.	562						cytoplasm|nucleus			BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3)	large_intestine(2)|ovary(3)|skin(2)	7		all_lung(180;2.78e-08)		all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249)		CCCCCAGCAGCTGGGACCTGC	0.587000			T	"""BRD3, BRD4"""	lethal midline carcinoma									59			8		3.09899e-07	3.55757e-07	1	1	0
GRM1	2911	broad.mit.edu	37	6	146719914	146719914	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:146719914C>T	uc010khw.1	+	7	2209	c.1739C>T	c.(1738-1740)cCc>cTc	p.P580L	GRM1_uc010khv.1_Missense_Mutation_p.P580L|GRM1_uc003qll.2_Missense_Mutation_p.P580L|GRM1_uc011edz.1_Missense_Mutation_p.P580L|GRM1_uc011eea.1_Missense_Mutation_p.P580L	NM_000838	NP_000829	Q13255	GRM1_HUMAN	Homo sapiens glutamate receptor, metabotropic 1 (GRM1), transcript variant 1, mRNA.	580					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	p.P580P(1)		NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	GGCTGTGAGCCCATTCCTGTG	0.428000														70			56		0	0	1	0	0
CASZ1	54897	broad.mit.edu	37	1	10715763	10715763	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:10715763G>A	uc001aro.3	-	8	1928	c.1608C>T	c.(1606-1608)agC>agT	p.S536S	CASZ1_uc001arp.1_Silent_p.S536S|CASZ1_uc009vmx.2_Silent_p.S560S	NM_001079843	NP_001073312	Q86V15	CASZ1_HUMAN	Homo sapiens castor zinc finger 1 (CASZ1), transcript variant 1, mRNA.	536					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	p.S536S(2)		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)		GGTAGTAGACGCTGCAGTCGT	0.622000														19			15		0	0	1	0	0
PALLD	23022	broad.mit.edu	37	4	169432880	169432880	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:169432880C>A	uc011cjx.2	+	1	436	c.225C>A	c.(223-225)ctC>ctA	p.L75L	PALLD_uc003iru.3_Silent_p.L75L	NM_001166108	NP_001159580	Q8WX93	PALLD_HUMAN	Homo sapiens palladin, cytoskeletal associated protein (PALLD), transcript variant 1, mRNA.	75					cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		CTGCAAGCCTCTGTGAACATC	0.517000									Pancreatic Cancer, Familial Clustering of					38			5		0.000602214	0.000641151	1	1	0
CACNA1G	8913	broad.mit.edu	37	17	48653030	48653030	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:48653030C>A	uc002irk.1	+	7	1639	c.1267C>A	c.(1267-1269)Ctg>Atg	p.L423M	CACNA1G_uc002iri.1_Missense_Mutation_p.L423M|CACNA1G_uc002irj.1_Missense_Mutation_p.L423M|CACNA1G_uc002irl.1_Missense_Mutation_p.L423M|CACNA1G_uc002irm.1_Missense_Mutation_p.L423M|CACNA1G_uc002irn.1_Missense_Mutation_p.L423M|CACNA1G_uc002iro.1_Missense_Mutation_p.L423M|CACNA1G_uc002irp.1_Missense_Mutation_p.L423M|CACNA1G_uc002irq.1_Missense_Mutation_p.L423M|CACNA1G_uc002irr.1_Missense_Mutation_p.L423M|CACNA1G_uc002irs.1_Missense_Mutation_p.L423M|CACNA1G_uc002irt.1_Missense_Mutation_p.L423M|CACNA1G_uc002iru.1_Missense_Mutation_p.L423M|CACNA1G_uc002irv.1_Missense_Mutation_p.L423M|CACNA1G_uc002irw.1_Missense_Mutation_p.L423M|CACNA1G_uc002irx.1_Missense_Mutation_p.L336M|CACNA1G_uc002iry.1_Missense_Mutation_p.L336M|CACNA1G_uc002isg.1_Missense_Mutation_p.L336M|CACNA1G_uc002ish.1_Missense_Mutation_p.L336M|CACNA1G_uc002isi.1_Missense_Mutation_p.L336M|CACNA1G_uc002irz.1_Missense_Mutation_p.L336M|CACNA1G_uc002isa.1_Missense_Mutation_p.L336M|CACNA1G_uc002isd.1_Missense_Mutation_p.L336M|CACNA1G_uc002isb.1_Missense_Mutation_p.L336M|CACNA1G_uc002isc.1_Missense_Mutation_p.L336M|CACNA1G_uc002ise.1_Missense_Mutation_p.L336M|CACNA1G_uc002isf.1_Missense_Mutation_p.L336M	NM_018896	NP_061496	O43497	CAC1G_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1G subunit (CACNA1G), transcript variant 1, mRNA.	423					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	CGCCAGCACCCTGGCTAGCTT	0.617000														11			12		0.00010058	0.000109296	1	1	0
ZC3H8	84524	broad.mit.edu	37	2	112995893	112995893	+	Splice_Site	SNP	C	A	A	rs112280995	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:112995893C>A	uc021vmw.1	-	3	476	c.370_splice	c.e3+1	p.A124_splice		NM_032494	NP_115883	Q8N5P1	ZC3H8_HUMAN	Homo sapiens zinc finger CCCH-type containing 8 (ZC3H8), mRNA.	124					T cell homeostasis|apoptosis|negative regulation of T cell differentiation in thymus|negative regulation of transcription, DNA-dependent|positive regulation of thymocyte apoptosis|response to antibiotic	nucleus	RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)	7						GACTCTTACCCTGTGGGGTAT	0.373000														101			8		0.000274275	0.000294507	1	1	0
RNF213	57674	broad.mit.edu	37	17	78272171	78272171	+	Missense_Mutation	SNP	C	T	T	rs139456294	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:78272171C>T	uc002jyh.2	+	11	2353	c.2210C>T	c.(2209-2211)aCg>aTg	p.T737M	RNF213_uc002jyf.3_Missense_Mutation_p.T688M|RNF213_uc021uen.1_Missense_Mutation_p.T688M|RNF213_uc002jyg.1_Missense_Mutation_p.T419M	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	SubName: Full=Uncharacterized protein;	688										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GACACAAGGACGTACACCTGG	0.622000														18			14		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9057153	9057153	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9057153G>A	uc002mkp.3	-	2	30497	c.30293C>T	c.(30292-30294)cCt>cTt	p.P10098L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	10100	Ser-rich.|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						GCTTGAAGAAGGATGAATTTT	0.463000														76			6		0	0	1	0	0
PLXNA1	5361	broad.mit.edu	37	3	126735848	126735848	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:126735848C>T	uc003ejg.3	+	15	3244	c.3244C>T	c.(3244-3246)Cgg>Tgg	p.R1082W		NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	Homo sapiens plexin A1 (PLXNA1), mRNA.	1082	IPT/TIG 3.				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity	p.R1082C(1)		breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		ACCCCGAATCCGGGCCAAGTA	0.637000														29			15		0	0	1	0	0
ERRFI1	54206	broad.mit.edu	37	1	8073377	8073377	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:8073377C>T	uc001aoz.3	-	3	1531	c.1282G>A	c.(1282-1284)Gct>Act	p.A428T		NM_018948	NP_061821	Q9UJM3	ERRFI_HUMAN	Homo sapiens ERBB receptor feedback inhibitor 1 (ERRFI1), mRNA.	428					lung alveolus development|lung epithelium development|lung vasculature development|negative regulation of epidermal growth factor receptor activity|negative regulation of protein autophosphorylation|regulation of keratinocyte differentiation|response to stress|skin morphogenesis	cytoplasm|extrinsic to internal side of plasma membrane|nucleus	Rho GTPase activator activity|protein kinase binding	p.A428S(2)		breast(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(3)|ovary(1)|prostate(1)|skin(2)	16	Ovarian(185;0.06)|all_lung(157;0.151)	all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.33e-70)|GBM - Glioblastoma multiforme(8;8.05e-37)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;6.9e-06)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)		CCGCAGTCAGCAGGTAATGGC	0.433000														100			8		0	0	1	0	0
F8	2157	broad.mit.edu	37	X	154158779	154158779	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:154158779C>T	uc004fmt.3	-	13	3457	c.3286G>A	c.(3286-3288)Gtc>Atc	p.V1096I		NM_000132	NP_000123	P00451	FA8_HUMAN	Homo sapiens coagulation factor VIII, procoagulant component (F8), transcript variant 1, mRNA.	1096	B.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TTCTGTTGGACCATTTCCATG	0.378000														53			43		0	0	1	0	0
ZFHX3	463	broad.mit.edu	37	16	72828427	72828427	+	Silent	SNP	C	T	T	rs150499144	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:72828427C>T	uc002fck.3	-	8	8827	c.8154G>A	c.(8152-8154)gcG>gcA	p.A2718A	ZFHX3_uc002fcl.3_Silent_p.A1804A	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	2718					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CTTTGAAGAGCGCTCTGCAAA	0.557000														53			30		0	0	1	0	0
TNC	3371	broad.mit.edu	37	9	117791675	117791675	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:117791675C>T	uc004bjj.4	-	24	6545	c.6133G>A	c.(6133-6135)Gct>Act	p.A2045T	TNC_uc010mvf.3_Missense_Mutation_p.A1772T|TNC_uc022bmj.1_Missense_Mutation_p.A1682T	NM_002160	NP_002151	P24821	TENA_HUMAN	Homo sapiens tenascin C (TNC), mRNA.	2045	Fibrinogen C-terminal.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						CCAAATCCAGCAGCATATGCC	0.443000														52			39		0	0	1	0	0
ZCCHC11	23318	broad.mit.edu	37	1	52981602	52981602	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:52981602T>G	uc001cty.2	-	2	1096	c.843A>C	c.(841-843)gaA>gaC	p.E281D	ZCCHC11_uc001ctx.2_Missense_Mutation_p.E281D|ZCCHC11_uc009vze.1_Missense_Mutation_p.E281D|ZCCHC11_uc009vzf.1_Missense_Mutation_p.E40D|ZCCHC11_uc001cub.3_Missense_Mutation_p.E281D|ZCCHC11_uc001cuc.2_Non-coding_Transcript|ZCCHC11_uc001cud.3_Missense_Mutation_p.E281D	NM_001009881	NP_001009881	Q5TAX3	TUT4_HUMAN	Homo sapiens zinc finger, CCHC domain containing 11 (ZCCHC11), transcript variant 1, mRNA.	281					RNA 3'-end processing|miRNA catabolic process|pre-miRNA processing|stem cell maintenance	cytoplasm|nucleolus	RNA uridylyltransferase activity|nucleic acid binding|protein binding|zinc ion binding			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						CTAAGCGTTCTTCTGCTTGTT	0.378000														57			24		0	0	1	0	0
KIF23	9493	broad.mit.edu	37	15	69732275	69732275	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:69732275T>C	uc002asb.3	+	15	1924	c.1746T>C	c.(1744-1746)taT>taC	p.Y582Y	KIF23_uc002asc.3_Silent_p.Y582Y|KIF23_uc010bii.3_Silent_p.Y472Y|KIF23_uc010ukc.2_Silent_p.Y399Y	NM_138555	NP_612565	Q02241	KIF23_HUMAN	Homo sapiens kinesin family member 23 (KIF23), transcript variant 1, mRNA.	582					blood coagulation|cytokinesis|microtubule-based movement|mitosis|mitotic spindle elongation	cytosol|kinesin complex|microtubule|midbody|nucleoplasm|spindle	ATP binding|microtubule motor activity|protein binding			central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1)	21						CTACTATCTATGAGGAAGATA	0.358000														25			10		0	0	1	0	0
STAT4	6775	broad.mit.edu	37	2	191929597	191929597	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:191929597G>A	uc002usm.2	-	7	1033	c.718C>T	c.(718-720)Cgg>Tgg	p.R240W	STAT4_uc002usn.2_Missense_Mutation_p.R240W|STAT4_uc010zgk.1_Missense_Mutation_p.R85W|STAT4_uc002uso.2_Missense_Mutation_p.R240W	NM_003151	NP_003142	Q14765	STAT4_HUMAN	Homo sapiens signal transducer and activator of transcription 4 (STAT4), transcript variant 1, mRNA.	240					JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			TGCTGCCGCCGCTTCCAGTCT	0.488000														201			12		0	0	1	0	0
LRRC49	54839	broad.mit.edu	37	15	71272511	71272511	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:71272511A>C	uc010ukf.2	+	9	1314	c.1008A>C	c.(1006-1008)caA>caC	p.Q336H	LRRC49_uc002asu.3_Missense_Mutation_p.Q321H|LRRC49_uc002asx.3_Missense_Mutation_p.Q287H|LRRC49_uc002asw.3_Missense_Mutation_p.Q331H|LRRC49_uc002asy.3_Missense_Mutation_p.Q37H|LRRC49_uc002asz.3_Missense_Mutation_p.Q303H	NM_001199017	NP_001185946	Q8IUZ0	LRC49_HUMAN	Homo sapiens leucine rich repeat containing 49 (LRRC49), transcript variant 1, mRNA.	331						cytoplasm|microtubule				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						GTCATAAACAATCTTTGCTTA	0.403000														22			20		0	0	1	0	0
FKTN	2218	broad.mit.edu	37	9	108380347	108380347	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:108380347C>T	uc004bcr.3	+	8	1234	c.1018C>T	c.(1018-1020)Ctt>Ttt	p.L340F	FKTN_uc011lvx.2_Missense_Mutation_p.L340F|FKTN_uc004bcs.3_Missense_Mutation_p.L340F|FKTN_uc011lvy.2_Intron|FKTN_uc010mtm.3_Missense_Mutation_p.L208F	NM_001079802	NP_006722	O75072	FKTN_HUMAN	Homo sapiens fukutin (FKTN), transcript variant 1, mRNA.	340					muscle organ development|negative regulation of JNK cascade|negative regulation of cell proliferation|nervous system development|regulation of protein glycosylation	Golgi membrane|cis-Golgi network|endoplasmic reticulum|extracellular space|integral to membrane|nucleus	transferase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	25						GGATGCAGGACTTCCGCTCAA	0.333000														24			16		0	0	1	0	0
HMGCS1	3157	broad.mit.edu	37	5	43298869	43298869	+	Missense_Mutation	SNP	A	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:43298869A>T	uc003jnr.4	-	2	406	c.199T>A	c.(199-201)Tct>Act	p.S67T	HMGCS1_uc003jnq.4_Missense_Mutation_p.S67T	NM_001098272	NP_002121	Q01581	HMCS1_HUMAN	Homo sapiens 3-hydroxy-3-methylglutaryl-CoA synthase 1 (soluble) (HMGCS1), transcript variant 1, mRNA.	67					cholesterol biosynthetic process|isoprenoid biosynthetic process	cytosol|soluble fraction	hydroxymethylglutaryl-CoA synthase activity			NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|stomach(1)|urinary_tract(1)	15						ATGCAAAGAGAGTTAATATCT	0.433000														78			48		0	0	1	0	0
DNM1P46	196968	broad.mit.edu	37	15	100331336	100331336	+	RNA	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:100331336G>T	uc021sxl.1	-	1		c.1817C>A			DNM1P46_uc010urx.1_Non-coding_Transcript|DNM1P46_uc010ury.2_Non-coding_Transcript					Homo sapiens DNM1 pseudogene 46 (DNM1P46), non-coding RNA.																		TGCTCACGTGGCCCCAACCCC	0.567000														57			7		0.0293803	0.0299714	1	1	0
SULF1	23213	broad.mit.edu	37	8	70514019	70514019	+	Missense_Mutation	SNP	G	A	A	rs61747207	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:70514019G>A	uc003xyg.2	+	8	1577	c.1016G>A	c.(1015-1017)cGt>cAt	p.R339H	SULF1_uc010lza.1_Missense_Mutation_p.R339H|SULF1_uc003xyd.2_Missense_Mutation_p.R339H|SULF1_uc003xye.2_Missense_Mutation_p.R339H|SULF1_uc003xyf.2_Missense_Mutation_p.R339H|SULF1_uc003xyh.1_Non-coding_Transcript	NM_001128206	NP_055985	Q8IWU6	SULF1_HUMAN	Homo sapiens sulfatase 1 (SULF1), transcript variant 2, mRNA.	339					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	Golgi stack|cell surface|endoplasmic reticulum|extracellular space	arylsulfatase activity|calcium ion binding	p.R339H(2)		breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			TTTGATATTCGTGTGCCTTTT	0.423000														208			10		0	0	1	0	0
FLRT2	23768	broad.mit.edu	37	14	86088012	86088012	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:86088012C>T	uc021rxf.1	+	0	154	c.154C>T	c.(154-156)Cga>Tga	p.R52*	FLRT2_uc001xvr.3_Nonsense_Mutation_p.R52*|FLRT2_uc010atd.3_Nonsense_Mutation_p.R52*	NM_013231	NP_037363	O43155	FLRT2_HUMAN	Homo sapiens fibronectin leucine rich transmembrane protein 2 (FLRT2), mRNA.	52	LRRNT.				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		CTGTAATGAGCGAAGCTTGAC	0.512000														62			46		0	0	1	0	0
RIMS1	22999	broad.mit.edu	37	6	72945373	72945373	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:72945373T>G	uc003pga.3	+	7	1876	c.1799T>G	c.(1798-1800)gTt>gGt	p.V600G	RIMS1_uc011dyb.2_Missense_Mutation_p.V226G|RIMS1_uc003pgc.3_Missense_Mutation_p.V226G|RIMS1_uc010kaq.3_Missense_Mutation_p.V74G|RIMS1_uc011dyc.2_Missense_Mutation_p.V74G|RIMS1_uc010kar.3_5'UTR|RIMS1_uc011dyd.2_Missense_Mutation_p.V59G|RIMS1_uc003pgb.4_Missense_Mutation_p.V226G|RIMS1_uc010kas.1_Missense_Mutation_p.V59G	NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 1 (RIMS1), transcript variant 1, mRNA.	600					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	Rab GTPase binding|metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				ATTGGACGTGTTATTCTTAAC	0.368000														9			7		0	0	1	0	0
PLD3	23646	broad.mit.edu	37	19	40872796	40872796	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:40872796C>T	uc002onm.4	+	4	617	c.219C>T	c.(217-219)cgC>cgT	p.R73R	PLD3_uc021uus.1_Silent_p.R73R|PLD3_uc002onj.4_Silent_p.R73R|PLD3_uc002onn.3_Silent_p.R73R|PLD3_uc002ono.3_Missense_Mutation_p.P103S	NM_001031696	NP_036400	Q8IV08	PLD3_HUMAN	Homo sapiens phospholipase D family, member 3 (PLD3), transcript variant 1, mRNA.	73					lipid catabolic process	endoplasmic reticulum membrane|integral to membrane	NAPE-specific phospholipase D activity|phospholipase D activity|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20			Lung(22;0.000636)|LUSC - Lung squamous cell carcinoma(20;0.00248)			CCAACCAGCGCCCAGCCCCCT	0.592000														48			24		0	0	1	0	0
NAA25	80018	broad.mit.edu	37	12	112518933	112518933	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:112518933G>A	uc001ttm.3	-	4	466	c.408C>T	c.(406-408)ggC>ggT	p.G136G	NAA25_uc001ttn.4_Non-coding_Transcript|NAA25_uc009zvz.2_Silent_p.G108G|NAA25_uc009zwa.2_Silent_p.G136G	NM_024953	NP_079229	Q14CX7	NAA25_HUMAN	Homo sapiens N(alpha)-acetyltransferase 25, NatB auxiliary subunit (NAA25), mRNA.	136						cytoplasm	protein binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						ATAGAGCCATGCCAGCCTAAA	0.373000														177			22		0	0	1	0	0
NCOR1	9611	broad.mit.edu	37	17	16068429	16068429	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:16068429G>A	uc002gpo.3	-	4	751	c.482C>T	c.(481-483)tCg>tTg	p.S161L	NCOR1_uc002gpn.3_Missense_Mutation_p.S161L|NCOR1_uc002gpp.1_Missense_Mutation_p.S52L|NCOR1_uc002gpr.3_Missense_Mutation_p.S52L|NCOR1_uc002gps.2_Missense_Mutation_p.S161L|NCOR1_uc010cpb.2_Missense_Mutation_p.S161L|NCOR1_uc010coz.2_5'UTR|NCOR1_uc010cpa.2_Missense_Mutation_p.S161L|NCOR1_uc002gpu.3_Missense_Mutation_p.S161L	NM_006311	NP_006302	O75376	NCOR1_HUMAN	Homo sapiens nuclear receptor corepressor 1 (NCOR1), transcript variant 1, mRNA.	161	Interaction with ZBTB33 and HEXIM1.				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		TGGTTGCCCCGAAATTGGAGA	0.388000														121			21		0	0	1	0	0
KIF20B	9585	broad.mit.edu	37	10	91484805	91484805	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:91484805T>C	uc001kgs.1	+	14	1963	c.1891T>C	c.(1891-1893)Tta>Cta	p.L631L	KIF20B_uc001kgr.1_Silent_p.L631L|KIF20B_uc001kgt.1_5'UTR	NM_016195	NP_057279	Q96Q89	KI20B_HUMAN	Homo sapiens kinesin family member 20B (KIF20B), mRNA.	631					cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|WW domain binding|microtubule motor activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						ACGAGAGATATTAGAAGAAAA	0.358000														49			39		0	0	1	0	0
ZNF585A	199704	broad.mit.edu	37	19	37643829	37643829	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:37643829C>A	uc002ofo.1	-	4	1203	c.972G>T	c.(970-972)aaG>aaT	p.K324N	ZNF585A_uc002ofm.1_Missense_Mutation_p.K269N|ZNF585A_uc002ofn.1_Missense_Mutation_p.K269N	NM_199126	NP_954577	Q6P3V2	Z585A_HUMAN	Homo sapiens zinc finger protein 585A (ZNF585A), transcript variant 2, mRNA.	324					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ATATATAGGGCTTCACTCTTG	0.388000														168			13		3.45872e-05	3.81293e-05	1	1	0
NLRC4	58484	broad.mit.edu	37	2	32449721	32449721	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:32449721G>A	uc002roi.3	-	8	3157	c.2896C>T	c.(2896-2898)Caa>Taa	p.Q966*	NLRC4_uc021vfq.1_Nonsense_Mutation_p.Q966*|NLRC4_uc002roj.2_Nonsense_Mutation_p.Q966*|NLRC4_uc010ezt.2_Nonsense_Mutation_p.Q301*	NM_001199138	NP_001186067	Q9NPP4	NLRC4_HUMAN	Homo sapiens NLR family, CARD domain containing 4 (NLRC4), transcript variant 2, mRNA.	966					activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					AACACTAATTGCTTAAGATTC	0.383000														58			10		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9086021	9086021	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9086021T>C	uc002mkp.3	-	0	5998	c.5794A>G	c.(5794-5796)Ata>Gta	p.I1932V		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	1932	Ser-rich.|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						GTTAAGCTTATGGCCCTGTTT	0.483000														43			4		0	0	1	0	0
PDE6C	5146	broad.mit.edu	37	10	95418727	95418727	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:95418727A>G	uc001kiu.4	+	16	2244	c.2106A>G	c.(2104-2106)aaA>aaG	p.K702K		NM_006204	NP_006195	P51160	PDE6C_HUMAN	Homo sapiens phosphodiesterase 6C, cGMP-specific, cone, alpha prime (PDE6C), mRNA.	702					visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding	p.I701M(1)		breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)				AAGCCATCAAATATGTAACTG	0.318000														53			6		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9088125	9088125	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9088125C>A	uc002mkp.3	-	0	3894	c.3690G>T	c.(3688-3690)gaG>gaT	p.E1230D		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	1230	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						CTTCTGATGCCTCCAATGATG	0.517000														296			18		5.3912e-06	6.03622e-06	1	1	0
WT1	7490	broad.mit.edu	37	11	32421585	32421585	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:32421585C>T	uc001mtn.2	-	5	1197	c.1007G>A	c.(1006-1008)aGc>aAc	p.S336N	WT1_uc001mtl.2_Missense_Mutation_p.S124N|WT1_uc001mtm.2_Missense_Mutation_p.S107N|WT1_uc001mto.2_Missense_Mutation_p.S336N|WT1_uc001mtq.2_Missense_Mutation_p.S319N|WT1_uc009yjs.2_Non-coding_Transcript	NM_024426	NP_077744	P19544	WT1_HUMAN	Homo sapiens Wilms tumor 1 (WT1), transcript variant D, mRNA.	268					RNA splicing|adrenal cortex formation|branching involved in ureteric bud morphogenesis|camera-type eye development|cardiac muscle cell fate commitment|cellular response to cAMP|cellular response to gonadotropin stimulus|germ cell development|glomerular basement membrane development|glomerular visceral epithelial cell differentiation|induction of apoptosis|male genitalia development|male gonad development|mesenchymal to epithelial transition|metanephric S-shaped body morphogenesis|metanephric epithelium development|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of female gonad development|negative regulation of metanephric glomerular mesangial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of translation|positive regulation of male gonad development|positive regulation of transcription, DNA-dependent|posterior mesonephric tubule development|regulation of organ formation|sex determination|vasculogenesis|visceral serous pericardium development	cytoplasm|nuclear speck|nucleoplasm	C2H2 zinc finger domain binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.K336E(1)	EWSR1/WT1(234)	NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1)	533	Breast(20;0.247)		OV - Ovarian serous cystadenocarcinoma(30;0.128)			GTACCCTGTGCTGTGGCTGCA	0.498000			"""D, Mis, N, F, S"""	EWSR1	"""Wilms, desmoplastic small round cell tumor"""	Wilms			Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome					23			12		0	0	1	0	0
GABRG1	2565	broad.mit.edu	37	4	46067586	46067586	+	Missense_Mutation	SNP	T	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:46067586T>A	uc003gxb.3	-	3	489	c.337A>T	c.(337-339)Ata>Tta	p.I113L		NM_173536	NP_775807	Q8N1C3	GBRG1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 1 (GABRG1), mRNA.	113					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		GCAAAAATTATATCTATTGTA	0.274000														7			14		0	0	1	0	0
ENO1	2023	broad.mit.edu	37	1	8928048	8928048	+	Splice_Site	SNP	T	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:8928048T>A	uc001apj.2	-	5	832	c.310_splice	c.e5+1	p.S104_splice	ENO1_uc001api.2_Splice_Site_p.S11_splice|ENO1_uc009vml.2_Splice_Site_p.S104_splice	NM_001428	NP_001188412	P06733	ENOA_HUMAN	Homo sapiens enolase 1, (alpha) (ENO1), transcript variant 1, mRNA.	104	Required for repression of c-myc promoter activity.				gluconeogenesis|glycolysis|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|response to virus	phosphopyruvate hydratase complex|plasma membrane|sarcomere	DNA binding|magnesium ion binding|phosphopyruvate hydratase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	10	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;2.54e-20)|all_lung(118;2.99e-06)|Lung NSC(185;6.25e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.42e-07)|COAD - Colon adenocarcinoma(227;2.78e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		GCCACTCACATTTATTTTCTG	0.458000														375			231		0	0	1	0	0
UGCG	7357	broad.mit.edu	37	9	114695147	114695147	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:114695147C>T	uc004bft.3	+	8	1345	c.1055C>T	c.(1054-1056)gCc>gTc	p.A352V		NM_003358	NP_003349	Q16739	CEGT_HUMAN	Homo sapiens UDP-glucose ceramide glucosyltransferase (UGCG), mRNA.	352					epidermis development|glucosylceramide biosynthetic process	Golgi membrane|integral to membrane|membrane fraction	ceramide glucosyltransferase activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|ovary(1)|urinary_tract(1)	12				OV - Ovarian serous cystadenocarcinoma(323;0.0433)	Miglustat(DB00419)	TATGCAGTCGCCTGGTTCATC	0.393000														91			37		0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57333113	57333113	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:57333113G>A	uc002qnu.2	-	3	926	c.575C>T	c.(574-576)cCg>cTg	p.P192L	PEG3_uc010ygr.1_5'UTR|PEG3_uc010ygq.1_5'UTR|PEG3_uc002qnr.2_Missense_Mutation_p.P67L|PEG3_uc010etp.2_Missense_Mutation_p.P67L|PEG3_uc010ygs.1_Missense_Mutation_p.P67L|PEG3_uc002qnq.2_Missense_Mutation_p.P67L|PEG3_uc002qnt.2_Missense_Mutation_p.P193L|PEG3_uc002qnv.2_Missense_Mutation_p.P192L|PEG3_uc002qnw.2_Missense_Mutation_p.P67L|PEG3_uc002qnx.2_Missense_Mutation_p.P66L|PEG3_uc010etr.2_Missense_Mutation_p.P192L	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	192					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P191H(1)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		AAGATCCCGCGGAGGCATCCC	0.552000														67			58		0	0	1	0	0
ASPM	259266	broad.mit.edu	37	1	197072572	197072572	+	Nonsense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:197072572C>A	uc001gtu.3	-	17	6066	c.5809G>T	c.(5809-5811)Gga>Tga	p.G1937*	ASPM_uc001gtv.3_Intron|ASPM_uc001gtw.4_Intron	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	Homo sapiens asp (abnormal spindle) homolog, microcephaly associated (Drosophila) (ASPM), transcript variant 1, mRNA.	1937					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TGCTTCCTTCCTGCAGTCCAT	0.428000														219			15		1.67942e-08	1.97205e-08	1	1	0
MLKL	197259	broad.mit.edu	37	16	74729471	74729471	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:74729471A>G	uc002fdb.2	-	1	626	c.185T>C	c.(184-186)aTg>aCg	p.M62T	MLKL_uc002fdc.2_Missense_Mutation_p.M62T	NM_152649	NP_689862	Q8NB16	MLKL_HUMAN	Homo sapiens mixed lineage kinase domain-like (MLKL), transcript variant 1, mRNA.	62							ATP binding|protein binding|protein kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(6)|skin(1)|stomach(2)	19						GAAGCGGTTCATGGCTGTGGT	0.552000														58			18		0	0	1	0	0
ZNF470	388566	broad.mit.edu	37	19	57089730	57089730	+	Nonsense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:57089730G>T	uc002qnl.4	+	5	2609	c.1933G>T	c.(1933-1935)Gga>Tga	p.G645*	ZNF470_uc010etn.3_Intron	NM_001001668	NP_001001668	Q6ECI4	ZN470_HUMAN	Homo sapiens zinc finger protein 470 (ZNF470), mRNA.	645					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G645A(1)		endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		AATTCATACAGGAGAGAAACC	0.413000														46			8		5.18039e-06	5.80246e-06	1	1	0
C8orf76	84933	broad.mit.edu	37	8	124243798	124243798	+	Missense_Mutation	SNP	G	A	A	rs149988027		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:124243798G>A	uc003yqc.2	-	3	609	c.557C>T	c.(556-558)gCg>gTg	p.A186V	C8orf76_uc003yqd.3_Missense_Mutation_p.A154V	NM_032847	NP_116236	Q96K31	CH076_HUMAN	Homo sapiens chromosome 8 open reading frame 76 (C8orf76), mRNA.	186							binding			NS(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(4)	17	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			CTGAGATGACGCAAGTGCTGC	0.443000														76			43		0	0	1	0	0
ZNF555	148254	broad.mit.edu	37	19	2853330	2853330	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:2853330C>T	uc002lwo.3	+	3	1405	c.1267C>T	c.(1267-1269)Ccc>Tcc	p.P423S	ZNF555_uc002lwn.4_Missense_Mutation_p.P422S	NM_152791	NP_690004	Q8NEP9	ZN555_HUMAN	Homo sapiens zinc finger protein 555 (ZNF555), transcript variant 1, mRNA.	423					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)|urinary_tract(4)	23				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGAGAGAAACCCTATGAGTG	0.453000														15			7		0	0	1	0	0
TOP3A	7156	broad.mit.edu	37	17	18186034	18186034	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:18186034G>T	uc002gsx.1	-	15	2228	c.1999C>A	c.(1999-2001)Ctt>Att	p.L667I	TOP3A_uc010cpz.1_Missense_Mutation_p.L119I|TOP3A_uc010vxr.1_Missense_Mutation_p.L197I|TOP3A_uc002gsw.1_Missense_Mutation_p.L119I|TOP3A_uc010vxs.1_Missense_Mutation_p.L565I	NM_004618	NP_004609	Q13472	TOP3A_HUMAN	Homo sapiens topoisomerase (DNA) III alpha (TOP3A), mRNA.	667					DNA topological change|meiosis	PML body|chromosome	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						TTGGTCTTAAGGACCATGTCC	0.577000														116			7		5.18039e-06	5.80246e-06	1	1	0
SDK1	221935	broad.mit.edu	37	7	4260953	4260953	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:4260953C>T	uc003smx.3	+	39	5923	c.5784C>T	c.(5782-5784)ggC>ggT	p.G1928G	SDK1_uc010kso.3_Silent_p.G1184G|SDK1_uc003smy.3_Silent_p.G415G	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	1928	Fibronectin type-III 13.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GACACTCTGGCGACACACCTA	0.622000														6			4		0	0	1	0	0
SEMA4D	10507	broad.mit.edu	37	9	92003880	92003880	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:92003880C>T	uc004aqo.1	-	11	1429	c.857G>A	c.(856-858)aGc>aAc	p.S286N	SEMA4D_uc011ltm.1_Missense_Mutation_p.S286N|SEMA4D_uc011ltn.1_Non-coding_Transcript|SEMA4D_uc011lto.1_Non-coding_Transcript|SEMA4D_uc004aqp.1_Missense_Mutation_p.S286N	NM_006378	NP_006369	Q92854	SEM4D_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D (SEMA4D), transcript variant 1, mRNA.	286	Sema.				anti-apoptosis|axon guidance|cell adhesion|immune response	integral to membrane|plasma membrane	receptor activity|receptor binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						GACCAAGCCGCTGTCTGGCCG	0.582000														185			20		0	0	1	0	0
TRMT61B	55006	broad.mit.edu	37	2	29084149	29084149	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:29084149A>G	uc002rmm.3	-	2	860	c.828T>C	c.(826-828)agT>agC	p.S276S		NM_017910	NP_060380	Q9BVS5	TR61B_HUMAN	Homo sapiens tRNA methyltransferase 61 homolog B (S. cerevisiae) (TRMT61B), mRNA.	276							tRNA (adenine-N1-)-methyltransferase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	13						GTACCTCAAAACTTATGACTC	0.318000														25			17		0	0	1	0	0
RLIM	51132	broad.mit.edu	37	X	73815757	73815757	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:73815757C>T	uc004ebu.3	-	2	346	c.56G>A	c.(55-57)cGc>cAc	p.R19H	RLIM_uc004ebw.3_Missense_Mutation_p.R19H	NM_183353	NP_899196	Q9NVW2	RNF12_HUMAN	Homo sapiens ring finger protein, LIM domain interacting (RLIM), transcript variant 2, mRNA.	19					random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CTGACTTCTGCGCTGTGCTGC	0.378000														39			21		0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41385262	41385262	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:41385262C>T	uc002yyq.1	-	32	6190	c.5738G>A	c.(5737-5739)cGa>cAa	p.R1913Q	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	1913				HRPGDLIHLPPYLRMDFLLNRGGPGTSRDLSLGQACLEPQK SRTLKRPTVLEPIPMEAASSASSTREGQSWQPGAVATLPQR EGAELGQAAKMSSSQESLLDSRGHLKGNNPYAKSYTLV -> IGQVTSYICLHTLEWTFC (in Ref. 1; AAC17966).	cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TGGACCACCTCGGTTTAACAA	0.507000														33			19		0	0	1	0	0
FOXN2	3344	broad.mit.edu	37	2	48602108	48602108	+	Silent	SNP	C	T	T	rs144420824	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:48602108C>T	uc002rwh.1	+	6	1137	c.822C>T	c.(820-822)taC>taT	p.Y274Y		NM_002158	NP_002149	P32314	FOXN2_HUMAN	Homo sapiens forkhead box N2 (FOXN2), mRNA.	274					embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA 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			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.0272)|LUSC - Lung squamous cell carcinoma(58;0.036)			AGAGGAGTTACGGCAATGCAT	0.388000														23			15		0	0	1	0	0
MICAL1	64780	broad.mit.edu	37	6	109767545	109767545	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:109767545G>A	uc011eaq.2	-	18	2723	c.2432C>T	c.(2431-2433)gCc>gTc	p.A811V	MICAL1_uc003ptj.3_Missense_Mutation_p.A792V|MICAL1_uc003ptk.3_Missense_Mutation_p.A792V|MICAL1_uc010kdr.3_Missense_Mutation_p.A706V	NM_022765	NP_073602	Q8TDZ2	MICA1_HUMAN	Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 1 (MICAL1), transcript variant 1, mRNA.	792					cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		AACAGGACCGGCCCCCTCCTG	0.647000														64			37		0	0	1	0	0
POLR2C	5432	broad.mit.edu	37	16	57504908	57504908	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:57504908C>A	uc002elt.1	+	8	791	c.705C>A	c.(703-705)tcC>tcA	p.S235S		NM_032940	NP_116558	P19387	RPB3_HUMAN	Homo sapiens polymerase (RNA) II (DNA directed) polypeptide C, 33kDa (POLR2C), mRNA.	235					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|protein dimerization activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	10						ATGTGGAGTCCTGTGGCTCTC	0.527000														51			24		7.4402e-23	9.67434e-23	1	1	0
PAPOLA	10914	broad.mit.edu	37	14	96994341	96994341	+	Nonsense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:96994341G>T	uc001yfq.3	+	5	710	c.493G>T	c.(493-495)Gag>Tag	p.E165*	PAPOLA_uc001yfp.3_Nonsense_Mutation_p.E165*|PAPOLA_uc001yfo.3_Nonsense_Mutation_p.E165*|PAPOLA_uc001yfr.3_Nonsense_Mutation_p.E165*|PAPOLA_uc010twv.2_Nonsense_Mutation_p.E165*|PAPOLA_uc010avp.3_Intron	NM_032632	NP_116021	P51003	PAPOA_HUMAN	Homo sapiens poly(A) polymerase alpha (PAPOLA), transcript variant 1, mRNA.	165					mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cytoplasm|nucleoplasm	ATP binding|RNA binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity			breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.213)		TGATGGGATAGAGGTAAGGTA	0.333000														109			52		2.74224e-37	3.63918e-37	1	1	0
TANC1	85461	broad.mit.edu	37	2	160074022	160074022	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:160074022G>A	uc002uag.3	+	19	3533	c.3259G>A	c.(3259-3261)Gca>Aca	p.A1087T	TANC1_uc010zcm.2_Missense_Mutation_p.A1079T|TANC1_uc010fom.1_Missense_Mutation_p.A893T|TANC1_uc010fon.3_5'UTR	NM_033394	NP_203752	Q9C0D5	TANC1_HUMAN	Homo sapiens tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1 (TANC1), transcript variant 1, mRNA.	1087						cell junction|postsynaptic density|postsynaptic membrane	binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						GACTGCCGCCGCAGGAAGAGG	0.552000														82			42		0	0	1	0	0
FLCN	201163	broad.mit.edu	37	17	17119724	17119724	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:17119724C>T	uc002gra.4	-	10	1774	c.1270G>A	c.(1270-1272)Gtg>Atg	p.V424M	PLD6_uc010cpn.3_Non-coding_Transcript	NM_144997	NP_659434	Q8NFG4	FLCN_HUMAN	Homo sapiens folliculin (FLCN), transcript variant 1, mRNA.	424					regulation of protein phosphorylation	cytoplasm|nucleus|plasma membrane	protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|stomach(1)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						GGGATCTGCACGTGCGGGCTG	0.672000									Familial Non-VHL Clear Cell Renal Cancer;Birt-Hogg-Dub syndrome					6			8		0	0	1	0	0
ALG12	79087	broad.mit.edu	37	22	50304164	50304164	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:50304164C>T	uc003biy.3	-	3	661	c.387G>A	c.(385-387)atG>atA	p.M129I		NM_024105	NP_077010	Q9BV10	ALG12_HUMAN	Homo sapiens asparagine-linked glycosylation 12, alpha-1,6-mannosyltransferase homolog (S. cerevisiae) (ALG12), mRNA.	129					GPI anchor biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding	integral to membrane|intrinsic to endoplasmic reticulum membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(3)	12		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247)		CCCAGCAGAACATGGTGGCCA	0.567000														40			16		0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113275879	113275879	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:113275879G>A	uc003ynu.3	-	60	10010	c.9851C>T	c.(9850-9852)cCg>cTg	p.P3284L	CSMD3_uc003yns.3_Missense_Mutation_p.P2486L|CSMD3_uc003ynt.3_Missense_Mutation_p.P3244L|CSMD3_uc011lhx.2_Missense_Mutation_p.P3115L	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	3284	Sushi 25.					integral to membrane|plasma membrane		p.P3284Q(2)|p.P3284L(2)|p.P3244L(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TAAGCACTGCGGTACTTCACC	0.398000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				15			17		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21255269	21255269	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:21255269G>A	uc002red.3	-	9	1437	c.1309C>T	c.(1309-1311)Cgc>Tgc	p.R437C		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	437	Vitellogenin.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GCTCGGCTGCGCTGATCCCTC	0.572000														39			24		0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	69069574	69069574	+	Nonsense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:69069574G>T	uc003xxv.1	+	34	4276	c.4249G>T	c.(4249-4251)Gga>Tga	p.G1417*		NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	1417					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						GAGCATGGAAGGATATTATTA	0.343000														43			4		0.150653	0.152248	1	1	0
AIM1	202	broad.mit.edu	37	6	106978132	106978132	+	Nonsense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:106978132G>T	uc003prh.3	+	5	4348	c.3436G>T	c.(3436-3438)Gaa>Taa	p.E1146*		NM_001624	NP_001615	Q9Y4K1	AIM1_HUMAN	Homo sapiens absent in melanoma 1 (AIM1), mRNA.	1146	Beta/gamma crystallin 'Greek key' 3.						sugar binding			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		TGATACTGAAGAAATGCAGGG	0.328000														121			8		0.00621372	0.00645399	1	1	0
HLTF	6596	broad.mit.edu	37	3	148757856	148757856	+	Nonsense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:148757856C>A	uc003ewq.1	-	20	2682	c.2464G>T	c.(2464-2466)Gag>Tag	p.E822*	HLTF_uc003ewr.1_Nonsense_Mutation_p.E822*|HLTF_uc003ews.1_Nonsense_Mutation_p.E821*|HLTF_uc010hve.1_Nonsense_Mutation_p.E821*	NM_139048	NP_620636	Q14527	HLTF_HUMAN	Homo sapiens helicase-like transcription factor (HLTF), transcript variant 2, mRNA.	822					chromatin modification|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			GACTTTTTCTCACTGTCACGT	0.323000														35			10		2.17888e-05	2.40634e-05	1	1	0
GPS2	2874	broad.mit.edu	37	17	7227169	7227169	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7227169C>T	uc002gga.1	-	11	2232	c.2225G>A	c.(2224-2226)cGc>cAc	p.R742H	GPS2_uc002ggb.1_Missense_Mutation_p.R742H|GPS2_uc002ggc.1_Missense_Mutation_p.R88H	NM_032442	NP_115818	Q13227	GPS2_HUMAN	Homo sapiens neuralized homolog 4 (Drosophila) (NEURL4), transcript variant 1, mRNA.	0					JNK cascade|cell cycle|inactivation of MAPK activity|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter	transcriptional repressor complex	GTPase inhibitor activity|protein binding|transcription corepressor activity	p.R742H(2)		breast(1)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(4)	24		Prostate(122;0.157)				AAACTCGCTGCGACAGTTGTG	0.612000														54			29		0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76554290	76554290	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:76554290T>C	uc010dhp.2	-	13	2203	c.2078A>G	c.(2077-2079)cAg>cGg	p.Q693R	DNAH17_uc002jvv.2_Missense_Mutation_p.Q395R	NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			AATCTCTTTCTGTTGCTGGAA	0.453000														11			13		0	0	1	0	0
BPNT1	10380	broad.mit.edu	37	1	220246296	220246296	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:220246296G>T	uc001hma.3	-	3	401	c.229C>A	c.(229-231)Ctg>Atg	p.L77M	RNU5F-1_uc021pjd.1_Intron|BPNT1_uc010pug.2_Missense_Mutation_p.L22M|BPNT1_uc010puh.2_Intron	NM_006085	NP_006076	O95861	BPNT1_HUMAN	Homo sapiens 3'(2'), 5'-bisphosphate nucleotidase 1 (BPNT1), mRNA.	77					3'-phosphoadenosine 5'-phosphosulfate metabolic process|nervous system development|xenobiotic metabolic process	cytosol	3'(2'),5'-bisphosphate nucleotidase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(1)|skin(1)	14				GBM - Glioblastoma multiforme(131;0.0558)		TCAGAAGGCAGATCCTAAAGC	0.413000														116			10		1.76689e-08	2.07166e-08	1	1	0
SLC4A3	6508	broad.mit.edu	37	2	220497697	220497697	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:220497697G>A	uc002vmo.4	+	8	1533	c.1324G>A	c.(1324-1326)Gcc>Acc	p.A442T	SLC4A3_uc002vmp.4_Missense_Mutation_p.A415T|SLC4A3_uc010fwm.3_5'UTR|SLC4A3_uc010fwn.1_5'UTR	NM_201574	NP_963868	P48751	B3A3_HUMAN	Homo sapiens solute carrier family 4, anion exchanger, member 3 (SLC4A3), transcript variant 2, mRNA.	415	Poly-Ser.				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGAGGACAGGGCCAGCGTCCT	0.637000														23			16		0	0	1	0	0
CTH	1491	broad.mit.edu	37	1	70883695	70883695	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:70883695G>A	uc001dfd.3	+	2	524	c.326G>A	c.(325-327)tGt>tAt	p.C109Y	CTH_uc009wbl.2_Non-coding_Transcript|CTH_uc010oqq.2_Intron|CTH_uc001dfe.3_Missense_Mutation_p.C109Y	NM_001902	NP_001893	P32929	CGL_HUMAN	Homo sapiens cystathionase (cystathionine gamma-lyase) (CTH), transcript variant 1, mRNA.	109					cysteine biosynthetic process|hydrogen sulfide biosynthetic process|protein homotetramerization|protein-pyridoxal-5-phosphate linkage via peptidyl-N6-pyridoxal phosphate-L-lysine	cytoplasm|nucleus	L-cysteine desulfhydrase activity|cystathionine gamma-lyase activity|pyridoxal phosphate binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18					L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)	CAAATTATTTGTATGGATGAT	0.333000														46			42		0	0	1	0	0
MAP3K4	4216	broad.mit.edu	37	6	161508949	161508949	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:161508949C>A	uc003qtn.3	+	9	2928	c.2786C>A	c.(2785-2787)cCt>cAt	p.P929H	MAP3K4_uc010kkc.1_Missense_Mutation_p.P929H|MAP3K4_uc003qto.3_Missense_Mutation_p.P929H|MAP3K4_uc011efz.2_Non-coding_Transcript|MAP3K4_uc011ega.2_Missense_Mutation_p.P382H	NM_005922	NP_005913	Q9Y6R4	M3K4_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 4 (MAP3K4), transcript variant 1, mRNA.	929					JNK cascade|activation of MAPKK activity|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		AAAGTCGTGCCTCAGGTGGAG	0.522000														29			9		7.48243e-07	8.52591e-07	1	1	0
DBC1	1620	broad.mit.edu	37	9	121976432	121976432	+	Splice_Site	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:121976432A>G	uc004bkc.2	-	6	1142	c.686_splice	c.e6-1	p.G229_splice	DBC1_uc004bkd.2_Splice_Site_p.G229_splice	NM_014618	NP_055433	O60477	DBC1_HUMAN	Homo sapiens deleted in bladder cancer 1 (DBC1), mRNA.	229	MACPF.				cell cycle arrest|cell death	cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						TTATCTGAAGACCTGTGTGAG	0.418000														32			13		0	0	1	0	0
GRIN2C	2905	broad.mit.edu	37	17	72846006	72846006	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:72846006C>T	uc002jlt.1	-	6	1714	c.1558G>A	c.(1558-1560)Gta>Ata	p.V520I	GRIN2C_uc010wrh.1_Non-coding_Transcript|GRIN2C_uc002jlu.1_Missense_Mutation_p.V520I	NM_000835	NP_000826	Q14957	NMDE3_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2C (GRIN2C), mRNA.	520					glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|extracellular-glutamate-gated ion channel 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)	GAGAAGTCTACGATCTCGGAG	0.607000														41			34		0	0	1	0	0
SMARCA2	6595	broad.mit.edu	37	9	2054698	2054698	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:2054698T>G	uc003zhc.3	+	5	1247	c.1148T>G	c.(1147-1149)cTt>cGt	p.L383R	SMARCA2_uc003zhd.3_Missense_Mutation_p.L383R|SMARCA2_uc010mha.3_Missense_Mutation_p.L374R	NM_003070	NP_003061	P51531	SMCA2_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 (SMARCA2), transcript variant 1, mRNA.	383					chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	SWI/SNF complex|WINAC complex|intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm	ATP binding|DNA-dependent ATPase activity|RNA polymerase II transcription coactivator activity|helicase activity|protein binding|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		CTAAAAGCACTTCGGTTACTC	0.423000														93			5		0	0	1	0	0
CLASP1	23332	broad.mit.edu	37	2	122106112	122106112	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:122106112G>A	uc002tnc.3	-	36	4776	c.4386C>T	c.(4384-4386)gtC>gtT	p.V1462V	CLASP1_uc010yyv.2_Silent_p.V509V|CLASP1_uc002tmz.3_Silent_p.V548V|CLASP1_uc002tna.3_Silent_p.V509V|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_Silent_p.V1403V|CLASP1_uc010yza.2_Silent_p.V1395V|CLASP1_uc021vnl.1_Silent_p.V1401V|CLASP1_uc010yzc.2_Non-coding_Transcript|CLASP1_uc002tmy.3_Silent_p.V299V	NM_015282	NP_056097	Q7Z460	CLAP1_HUMAN	Homo sapiens cytoplasmic linker associated protein 1 (CLASP1), transcript variant 1, mRNA.	1463	Interaction with CLIP2 (By similarity).|Interaction with PHLDB2 and RSN.|Localization to kinetochores.				G2/M transition of mitotic cell cycle|axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	Golgi apparatus|centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|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)					GGATGATGTCGACAAGGAGCT	0.567000														9			8		0	0	1	0	0
FERMT3	83706	broad.mit.edu	37	11	63990794	63990794	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:63990794G>A	uc001nyl.2	+	14	1983	c.1834G>A	c.(1834-1836)Gag>Aag	p.E612K	FERMT3_uc001nym.2_Missense_Mutation_p.E608K|NUDT22_uc009ypd.3_5'Flank|NUDT22_uc001nyp.4_5'Flank|NUDT22_uc009ype.3_5'Flank|NUDT22_uc001nyq.4_5'Flank	NM_178443	NP_848537	Q86UX7	URP2_HUMAN	Homo sapiens fermitin family member 3 (FERMT3), transcript variant URP2LF, mRNA.	612					integrin activation|leukocyte cell-cell adhesion|platelet aggregation|regulation of cell-cell adhesion mediated by integrin	cell junction|cell projection|podosome	integrin binding			breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	18						GGTGGCCATCGAGTTTGATGA	0.592000														116			51		0	0	1	0	0
ZNF589	51385	broad.mit.edu	37	3	48310236	48310236	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:48310236G>T	uc003csl.4	+	3	1121	c.1055G>T	c.(1054-1056)aGa>aTa	p.R352I	ZNF589_uc010hjt.2_Missense_Mutation_p.R349I|ZNF589_uc003csn.3_Non-coding_Transcript|ZNF589_uc011bbg.2_Intron|ZNF589_uc003csm.3_Intron	NM_016089	NP_057173	Q86UQ0	ZN589_HUMAN	Homo sapiens zinc finger protein 589 (ZNF589), mRNA.	352					regulation of transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|lung(1)|ovary(1)|skin(1)	4				BRCA - Breast invasive adenocarcinoma(193;0.000649)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		AAGCACCAGAGAATTCACACG	0.478000														64			37		1.07121e-22	1.39245e-22	1	1	0
FXR2	9513	broad.mit.edu	37	17	7495189	7495189	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7495189C>T	uc002gia.2	-	16	2346	c.1981G>A	c.(1981-1983)Gcc>Acc	p.A661T	MPDU1_uc010vuc.1_Intron|SOX15_uc002ghy.1_5'Flank|SOX15_uc002ghz.1_5'Flank	NM_004860	NP_004851	P51116	FXR2_HUMAN	Homo sapiens fragile X mental retardation, autosomal homolog 2 (FXR2), mRNA.	661						cytosolic large ribosomal subunit	RNA binding|protein binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26				READ - Rectum adenocarcinoma(115;0.17)		TCCAAGGGGGCGGAGAGCTCC	0.557000														27			6		0	0	1	0	0
PIK3C2A	5286	broad.mit.edu	37	11	17190992	17190992	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:17190992T>C	uc001mmq.4	-	0	362	c.297A>G	c.(295-297)gaA>gaG	p.E99E	PIK3C2A_uc009ygu.1_Intron|PIK3C2A_uc010rcw.2_Intron|PIK3C2A_uc001mmr.3_Non-coding_Transcript|PIK3C2A_uc010rcx.1_Silent_p.E99E|PIK3C2A_uc009ygv.1_Silent_p.E99E	NM_002645	NP_002636	O00443	P3C2A_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, alpha polypeptide (PIK3C2A), mRNA.	99	Interaction with clathrin.				cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	Golgi apparatus|clathrin-coated vesicle|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58					Phosphatidylserine(DB00144)	GTTTCTCAAGTTCAGCTTGGG	0.383000														170			11		0	0	1	0	0
VPS13C	54832	broad.mit.edu	37	15	62165444	62165444	+	Splice_Site	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:62165444C>A	uc002agz.3	-	78	10669	c.10578_splice	c.e78+1	p.R3526_splice	VPS13C_uc002aha.3_Splice_Site_p.R3483_splice|VPS13C_uc002ahb.2_Splice_Site_p.R3526_splice|VPS13C_uc002ahc.2_Splice_Site_p.R3483_splice	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog C (S. cerevisiae) (VPS13C), transcript variant 2A, mRNA.	3526					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						AAAGAACTTACTCGCAGAAAG	0.418000														111			64		9.61844e-40	1.27832e-39	1	1	0
GPR158	57512	broad.mit.edu	37	10	25887652	25887652	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:25887652G>T	uc001isj.3	+	10	3157	c.3097G>T	c.(3097-3099)Gct>Tct	p.A1033S	GPR158_uc001isk.3_Missense_Mutation_p.A408S	NM_020752	NP_065803	Q5T848	GP158_HUMAN	Homo sapiens G protein-coupled receptor 158 (GPR158), mRNA.	1033						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						ATCTATTGTGGCTTCTGAAAT	0.458000														87			6		2.7689e-08	3.24273e-08	1	1	0
WASF1	8936	broad.mit.edu	37	6	110423283	110423283	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:110423283T>C	uc003ptv.1	-	9	1867	c.1030A>G	c.(1030-1032)Atg>Gtg	p.M344V	WASF1_uc003ptw.1_Missense_Mutation_p.M344V|WASF1_uc003ptx.1_Missense_Mutation_p.M344V|WASF1_uc003pty.1_Missense_Mutation_p.M344V	NM_003931	NP_003922	Q92558	WASF1_HUMAN	Homo sapiens WAS protein family, member 1 (WASF1), transcript variant 1, mRNA.	344					actin filament polymerization|cellular component movement	actin cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(87;1.18e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		OV - Ovarian serous cystadenocarcinoma(136;0.0364)|Epithelial(106;0.051)|all cancers(137;0.0687)		GTTGAAGTCATTGAAGCTCTT	0.562000														57			40		0	0	1	0	0
CSNK1A1L	122011	broad.mit.edu	37	13	37678880	37678880	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:37678880G>A	uc001uwm.1	-	0	922	c.514C>T	c.(514-516)Cac>Tac	p.H172Y		NM_145203	NP_660204	Q8N752	KC1AL_HUMAN	Homo sapiens casein kinase 1, alpha 1-like (CSNK1A1L), mRNA.	172	Protein kinase.				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity	p.H172Q(1)		NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	37		Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109)		all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407)		TACGGTATGTGTTGCCTGGTC	0.458000														50			37		0	0	1	0	0
SEZ6L	23544	broad.mit.edu	37	22	26706775	26706775	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:26706775G>A	uc003acb.3	+	6	1850	c.1654G>A	c.(1654-1656)Gcc>Acc	p.A552T	SEZ6L_uc003acd.3_Missense_Mutation_p.A552T|SEZ6L_uc011akd.2_Missense_Mutation_p.A552T|SEZ6L_uc003ace.3_Missense_Mutation_p.A552T|SEZ6L_uc011akc.2_Missense_Mutation_p.A552T|SEZ6L_uc003acc.3_Missense_Mutation_p.A552T|SEZ6L_uc003acf.1_Missense_Mutation_p.A325T|SEZ6L_uc010gvc.1_Missense_Mutation_p.A325T	NM_021115	NP_066938	Q9BYH1	SE6L1_HUMAN	Homo sapiens seizure related 6 homolog (mouse)-like (SEZ6L), transcript variant 1, mRNA.	552	CUB 2.					endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						GGCCCGGGCGGCCTCCACCTT	0.607000														58			32		0	0	1	0	0
ZNF569	148266	broad.mit.edu	37	19	37905279	37905279	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:37905279C>A	uc002ogj.3	-	8	1285	c.353G>T	c.(352-354)aGa>aTa	p.R118I	ZNF569_uc002ogh.3_5'UTR|ZNF569_uc002ogi.3_Missense_Mutation_p.R94I	NM_152484	NP_689697	Q5MCW4	ZN569_HUMAN	Homo sapiens zinc finger protein 569 (ZNF569), mRNA.	94					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCTCAAAAGTCTGTCCTGGTT	0.313000														51			22		6.44725e-10	7.73661e-10	1	1	0
ZNFX1	57169	broad.mit.edu	37	20	47868156	47868156	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:47868156G>A	uc002xui.3	-	12	3467	c.3220C>T	c.(3220-3222)Cgt>Tgt	p.R1074C		NM_021035	NP_066363	Q9P2E3	ZNFX1_HUMAN	Homo sapiens zinc finger, NFX1-type containing 1 (ZNFX1), mRNA.	1074							metal ion binding			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GGGCACATACGGTGCTGAAAA	0.433000														16			5		0	0	1	0	0
EXPH5	23086	broad.mit.edu	37	11	108381794	108381794	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:108381794C>T	uc001pkk.3	-	5	4551	c.4440G>A	c.(4438-4440)caG>caA	p.Q1480Q	EXPH5_uc010rvz.2_Silent_p.Q1324Q|EXPH5_uc010rvy.2_Silent_p.Q1292Q	NM_015065	NP_055880	Q149M6	Q149M6_HUMAN	Homo sapiens exophilin 5 (EXPH5), mRNA.	1480					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		CTTCCCTAGGCTGTGATCCAC	0.483000														17			12		0	0	1	0	0
FRG2B	441581	broad.mit.edu	37	10	135438839	135438839	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:135438839G>T	uc010qvg.2	-	3	654	c.601C>A	c.(601-603)Cca>Aca	p.P201T		NM_001080998	NP_001074467	Q96QU4	FRG2B_HUMAN	Homo sapiens FSHD region gene 2 family, member B (FRG2B), mRNA.	201						nucleus				endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1)	20		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		CAGGTAAGTGGAGAATGGATC	0.552000														46			22		2.89027e-11	3.52362e-11	1	1	0
PPP1R3F	89801	broad.mit.edu	37	X	49143232	49143232	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:49143232G>T	uc004dnh.2	+	3	2107	c.2080G>T	c.(2080-2082)Gcc>Tcc	p.A694S	PPP1R3F_uc004dni.3_Missense_Mutation_p.A348S|PPP1R3F_uc011mnd.2_Missense_Mutation_p.A365S|PPP1R3F_uc004dnj.2_Missense_Mutation_p.A348S	NM_033215	NP_149992	Q6ZSY5	PPR3F_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3F (PPP1R3F), transcript variant 1, mRNA.	694						integral to membrane		p.A694P(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(4)	27	Ovarian(276;0.236)					CAAGGAGCCAGCCTCTCCCGT	0.617000														6			6		0.00116845	0.00123466	1	1	0
CCDC88C	440193	broad.mit.edu	37	14	91776271	91776271	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:91776271G>T	uc010aty.3	-	15	2950	c.2796C>A	c.(2794-2796)agC>agA	p.S932R		NM_001080414	NP_001073883	Q9P219	DAPLE_HUMAN	Homo sapiens coiled-coil domain containing 88C (CCDC88C), mRNA.	932					Wnt receptor signaling pathway|microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation	cytoplasm|insoluble fraction	PDZ domain binding|microtubule binding|protein self-association	p.L931P(1)		central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				CCAGTTCCTGGCTCAGCTTGT	0.602000														12			6		0.00307968	0.00322291	1	1	0
TTC27	55622	broad.mit.edu	37	2	33012102	33012102	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:33012102C>T	uc002rom.3	+	15	2157	c.1884C>T	c.(1882-1884)caC>caT	p.H628H	TTC27_uc010ymx.2_Silent_p.H578H	NM_017735	NP_001180438	Q6P3X3	TTC27_HUMAN	Homo sapiens tetratricopeptide repeat domain 27 (TTC27), transcript variant 1, mRNA.	628							protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38						ACTATGAACACTGGCAGATTT	0.368000														55			5		0	0	1	0	0
UBR4	23352	broad.mit.edu	37	1	19403375	19403375	+	Nonsense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:19403375C>A	uc001bbi.3	-	104	15350	c.15346G>T	c.(15346-15348)Gag>Tag	p.E5116*	UBR4_uc001bbe.1_5'Flank|UBR4_uc001bbf.3_Nonsense_Mutation_p.E11*|UBR4_uc010ocv.2_Nonsense_Mutation_p.E639*|UBR4_uc009vph.3_Nonsense_Mutation_p.E771*|UBR4_uc010ocw.2_Nonsense_Mutation_p.E780*|UBR4_uc001bbg.3_Nonsense_Mutation_p.E827*|UBR4_uc001bbh.3_Nonsense_Mutation_p.E825*	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 4 (UBR4), mRNA.	5116					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CAGCCTCCCTCTGTGTTACTG	0.542000														76			8		0.00307968	0.00322291	1	1	0
PARP14	54625	broad.mit.edu	37	3	122437669	122437669	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:122437669G>T	uc003efq.4	+	13	4730	c.4671G>T	c.(4669-4671)gaG>gaT	p.E1557D	PARP14_uc021xdc.1_Missense_Mutation_p.E1421D|PARP14_uc010hrk.3_Non-coding_Transcript|PARP14_uc003efr.3_Missense_Mutation_p.E1274D|PARP14_uc003efs.1_Missense_Mutation_p.E1274D	NM_017554	NP_060024	Q460N5	PAR14_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 14 (PARP14), mRNA.	1557	WWE.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		TGAAATTAGAGGATGCAAGGA	0.378000														92			8		0.000157383	0.000170012	1	1	0
DNAH3	55567	broad.mit.edu	37	16	21080884	21080884	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:21080884T>C	uc010vbe.2	-	22	3233	c.3233A>G	c.(3232-3234)gAc>gGc	p.D1078G		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	1078	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		ATCCAAATTGTCTTGTATGCG	0.473000														62			20		0	0	1	0	0
AJUBA	84962	broad.mit.edu	37	14	23450656	23450656	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:23450656C>T	uc001whz.3	-	0	1193	c.820G>A	c.(820-822)Gcc>Acc	p.A274T		NM_032876	NP_116265	Q96IF1	JUB_HUMAN	Homo sapiens ajuba LIM protein (AJUBA), transcript variant 1, mRNA.	274	PreLIM.				cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly	cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center	alpha-catenin binding|zinc ion binding										TGGTACCGGGCGCCCACGGCG	0.716000														9			3		0	0	1	0	0
UPRT	139596	broad.mit.edu	37	X	74513320	74513320	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:74513320G>T	uc004ecb.2	+	1	596	c.400G>T	c.(400-402)Ggt>Tgt	p.G134C	UPRT_uc010nlu.2_Missense_Mutation_p.G134C|UPRT_uc004ecc.2_Non-coding_Transcript|UPRT_uc004ecd.2_Missense_Mutation_p.G134C	NM_145052	NP_659489	Q96BW1	UPP_HUMAN	Homo sapiens uracil phosphoribosyltransferase (FUR1) homolog (S. cerevisiae) (UPRT), transcript variant 1, mRNA.	134					nucleoside metabolic process	cytoplasm|nucleus				breast(1)|endometrium(7)|kidney(2)|large_intestine(4)|lung(4)	18						AGCCAGTAGAGGTGACTTCAT	0.343000														153			77		2.93434e-44	3.90405e-44	1	1	0
RANBP6	26953	broad.mit.edu	37	9	6013420	6013420	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:6013420C>T	uc003zjr.3	-	0	2221	c.2188G>A	c.(2188-2190)Gca>Aca	p.A730T	RANBP6_uc011lmf.2_Missense_Mutation_p.A378T|RANBP6_uc003zjs.3_3'UTR	NM_012416	NP_036548	O60518	RNBP6_HUMAN	Homo sapiens RAN binding protein 6 (RANBP6), transcript variant 1, mRNA.	730					protein transport	cytoplasm|nucleus	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		TCTGCTGCTGCCACTCGAACA	0.428000														54			35		0	0	1	0	0
HIP1R	9026	broad.mit.edu	37	12	123345497	123345497	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:123345497G>A	uc001udj.1	+	28	2860	c.2801G>A	c.(2800-2802)cGc>cAc	p.R934H	HIP1R_uc001udk.1_Missense_Mutation_p.R199H	NM_003959	NP_003950	O75146	HIP1R_HUMAN	Homo sapiens huntingtin interacting protein 1 related (HIP1R), mRNA.	934	I/LWEQ.				receptor-mediated endocytosis	clathrin coated vesicle membrane|coated pit|perinuclear region of cytoplasm	actin binding|phosphatidylinositol binding			breast(1)|endometrium(5)|kidney(6)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	26	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2)		CACCTGAGCCGCCTGCAGGAA	0.637000											OREG0022225	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		12			5		0	0	1	0	0
FASN	2194	broad.mit.edu	37	17	80053284	80053284	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:80053284G>A	uc002kdu.3	-	2	309	c.192C>T	c.(190-192)ttC>ttT	p.F64F		NM_004104	NP_004095	P49327	FAS_HUMAN	Homo sapiens fatty acid synthase (FASN), mRNA.	64	Beta-ketoacyl synthase (By similarity).				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	Golgi apparatus|cytosol|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding	p.S63fs*27(1)		central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	GGACTCCGAAGAAGGAGGCAT	0.617000														27			13		0	0	1	0	0
MAST1	22983	broad.mit.edu	37	19	12963039	12963039	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:12963039C>A	uc002mvm.3	+	8	1115	c.987C>A	c.(985-987)ggC>ggA	p.G329G	MAST1_uc021upp.1_Silent_p.G153G	NM_014975	NP_055790	Q9Y2H9	MAST1_HUMAN	Homo sapiens microtubule associated serine/threonine kinase 1 (MAST1), mRNA.	329					cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						GCCAGCTGGGCCTCACCCGTG	0.672000														39			24		2.21704e-12	2.7329e-12	1	1	0
OTUD3	23252	broad.mit.edu	37	1	20224082	20224082	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:20224082G>A	uc001bcs.4	+	3	652	c.533G>A	c.(532-534)cGg>cAg	p.R178Q		NM_015207	NP_056022	Q5T2D3	OTUD3_HUMAN	Homo sapiens OTU domain containing 3 (OTUD3), mRNA.	178	OTU.									breast(1)|kidney(2)|large_intestine(4)|lung(1)|skin(1)	9		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000276)|Lung NSC(340;0.000338)|Breast(348;0.000812)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.12e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.000408)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		ATCGCATATCGGTATGGAGAG	0.507000														31			16		0	0	1	0	0
MEGF10	84466	broad.mit.edu	37	5	126781197	126781197	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:126781197C>A	uc003kuh.4	+	20	2902	c.2540C>A	c.(2539-2541)aCt>aAt	p.T847N	MEGF10_uc003kui.4_Missense_Mutation_p.T847N	NM_032446	NP_115822	Q96KG7	MEG10_HUMAN	Homo sapiens multiple EGF-like-domains 10 (MEGF10), mRNA.	847	Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		CGAACCAGTACTGCTCTCCCT	0.428000														55			29		1.88708e-17	2.40588e-17	1	1	0
PIK3C2G	5288	broad.mit.edu	37	12	18435201	18435201	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:18435201C>A	uc001rdt.3	+	1	302	c.186C>A	c.(184-186)acC>acA	p.T62T	PIK3C2G_uc010sia.2_Non-coding_Transcript|PIK3C2G_uc010sib.2_Silent_p.T62T|PIK3C2G_uc010sic.2_5'UTR	NM_004570	NP_004561	O75747	P3C2G_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, gamma polypeptide (PIK3C2G), mRNA.	62					cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				ATGAAAACACCTTTTTTGTGC	0.408000														49			5		1.23904e-05	1.3743e-05	1	1	0
SLC26A9	115019	broad.mit.edu	37	1	205904889	205904889	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:205904889G>A	uc001hdp.3	-	1	174	c.60C>T	c.(58-60)ttC>ttT	p.F20F	SLC26A9_uc001hdq.3_Silent_p.F20F	NM_134325	NP_599152	Q7LBE3	S26A9_HUMAN	Homo sapiens solute carrier family 26, member 9 (SLC26A9), transcript variant 2, mRNA.	20						integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			ACTCATCGTCGAAGAGGGTAA	0.557000														48			39		0	0	1	0	0
CBX6	23466	broad.mit.edu	37	22	39262791	39262791	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:39262791C>T	uc003awl.3	-	4	725	c.662G>A	c.(661-663)cGt>cAt	p.R221H		NM_014292	NP_055107	O95503	CBX6_HUMAN	Homo sapiens chromobox homolog 6 (CBX6), mRNA.	221					chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex				large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6	Melanoma(58;0.04)					GATCTGTGTACGCAGGACGCT	0.701000														40			20		0	0	1	0	0
DDRGK1	65992	broad.mit.edu	37	20	3171368	3171368	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:3171368G>A	uc002wic.3	-	8	898	c.876C>T	c.(874-876)gcC>gcT	p.A292A		NM_023935	NP_076424	Q96HY6	DDRGK_HUMAN	Homo sapiens DDRGK domain containing 1 (DDRGK1), mRNA.	292						endoplasmic reticulum	protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(1)	7						GGGCAAGCTCGGCGATGGACA	0.642000														20			21		0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195474116	195474116	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:195474116G>T	uc021xjp.1	-	24	16326	c.16170C>A	c.(16168-16170)gtC>gtA	p.V5390V	MUC4_uc010hzq.3_Silent_p.V247V|MUC4_uc003fuz.3_Silent_p.V988V|MUC4_uc003fva.3_Silent_p.V870V|MUC4_uc003fvb.3_Silent_p.V906V|MUC4_uc003fvc.3_Non-coding_Transcript|MUC4_uc003fvd.3_Non-coding_Transcript|MUC4_uc003fve.3_Silent_p.V906V|MUC4_uc010hzr.3_Non-coding_Transcript|MUC4_uc021xjm.1_Silent_p.V899V|MUC4_uc021xjn.1_Silent_p.V1079V|MUC4_uc021xjo.1_Silent_p.V870V|MUC4_uc021xjg.1_Silent_p.V870V|MUC4_uc021xjh.1_Non-coding_Transcript|MUC4_uc021xji.1_Silent_p.V954V|MUC4_uc021xjj.1_Silent_p.V954V|MUC4_uc021xjk.1_Silent_p.V1131V|MUC4_uc021xjl.1_Silent_p.V870V|MUC4_uc003fvo.3_Silent_p.V1154V|MUC4_uc003fvp.3_Silent_p.V1103V	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	2147					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		AGAAGCGCAGGACCACGAACG	0.612000														132			8		0.000157383	0.000170012	1	1	0
ZMAT2	153527	broad.mit.edu	37	5	140085217	140085217	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140085217A>G	uc003lgy.1	+	5	490	c.476A>G	c.(475-477)tAc>tGc	p.Y159C		NM_144723	NP_653324	Q96NC0	ZMAT2_HUMAN	Homo sapiens zinc finger, matrin-type 2 (ZMAT2), mRNA.	159						nucleus	DNA binding|zinc ion binding	p.A158A(1)		breast(2)|kidney(2)|large_intestine(1)|liver(1)|lung(2)	8			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			gccaaagcgtacaagaaagag	0.458000														26			5		0	0	1	0	0
CCL5	6352	broad.mit.edu	37	17	34199458	34199458	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:34199458G>A	uc002hkf.3	-	2	267	c.199C>T	c.(199-201)Cga>Tga	p.R67*		NM_002985	NP_002976	P13501	CCL5_HUMAN	Homo sapiens chemokine (C-C motif) ligand 5 (CCL5), mRNA.	67					activation of phospholipase D activity|cell-cell signaling|cellular protein complex assembly|chemokine-mediated signaling pathway|dendritic cell chemotaxis|eosinophil chemotaxis|immune response|leukocyte cell-cell adhesion|macrophage chemotaxis|negative regulation of T cell apoptosis|negative regulation of viral genome replication|neutrophil activation|positive regulation of T cell apoptosis|positive regulation of T cell chemotaxis|positive regulation of T cell proliferation|positive regulation of activation of JAK2 kinase activity|positive regulation of cell-cell adhesion mediated by integrin|positive regulation of homotypic cell-cell adhesion|positive regulation of innate immune response|positive regulation of macrophage chemotaxis|positive regulation of monocyte chemotaxis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|positive regulation of translational initiation|positive regulation of tyrosine phosphorylation of STAT protein|positive regulation of viral genome replication|protein tetramerization|regulation of chronic inflammatory response|response to virus	extracellular space	CCR1 chemokine receptor binding|CCR4 chemokine receptor binding|CCR5 chemokine receptor binding|chemoattractant activity|chemokine activity|chemokine receptor antagonist activity|protein homodimerization activity|protein self-association|receptor signaling protein tyrosine kinase activator activity			breast(1)|kidney(1)|lung(1)	3		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0183)		CGGTTCTTTCGGGTGACAAAG	0.507000														66			9		0	0	1	0	0
ATP1A1	476	broad.mit.edu	37	1	116929940	116929940	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:116929940C>A	uc001ege.3	+	3	553	c.214C>A	c.(214-216)Ctg>Atg	p.L72M	ATP1A1_uc010owv.1_Missense_Mutation_p.L41M|ATP1A1_uc010oww.2_Missense_Mutation_p.L72M|ATP1A1_uc010owx.2_Missense_Mutation_p.L41M	NM_000701	NP_001153706	P05023	AT1A1_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 1 polypeptide (ATP1A1), transcript variant 1, mRNA.	72					ATP biosynthetic process	melanosome|sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity			NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021)	AGCTGAGATCCTGGCGCGAGA	0.502000														53			8		0.000157383	0.000170012	1	1	0
HOOK1	51361	broad.mit.edu	37	1	60314120	60314120	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:60314120G>A	uc009wad.3	+	11	1165	c.1063G>A	c.(1063-1065)Gtc>Atc	p.V355I	HOOK1_uc001czo.3_Missense_Mutation_p.V355I|HOOK1_uc001czp.3_Non-coding_Transcript|HOOK1_uc010oor.2_Missense_Mutation_p.V313I	NM_015888	NP_056972	Q9UJC3	HOOK1_HUMAN	Homo sapiens hook homolog 1 (Drosophila) (HOOK1), mRNA.	355	Sufficient for interaction with microtubules.				early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|multicellular organismal development|protein transport	FHF complex|microtubule	identical protein binding			biliary_tract(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|urinary_tract(1)	29	all_cancers(7;0.000129)					GCATAATACAGTCAGCTTAGA	0.328000														72			7		0	0	1	0	0
KIAA1614	57710	broad.mit.edu	37	1	180907788	180907788	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:180907788G>T	uc001gok.2	+	5	2926	c.2859G>T	c.(2857-2859)aaG>aaT	p.K953N	KIAA1614_uc001gol.1_Missense_Mutation_p.K574N|KIAA1614_uc001gom.1_Missense_Mutation_p.K44N	NM_020950	NP_066001	Q5VZ46	K1614_HUMAN	Homo sapiens KIAA1614 (KIAA1614), mRNA.	953	Ser-rich.									NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						AGTCCAGCAAGGAATCAGAGG	0.572000														32			27		4.87955e-14	6.09581e-14	1	1	0
KATNAL1	84056	broad.mit.edu	37	13	30829592	30829592	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:30829592C>A	uc001uss.3	-	3	585	c.484G>T	c.(484-486)Gat>Tat	p.D162Y	KATNAL1_uc001ust.3_Missense_Mutation_p.D162Y	NM_001014380	NP_115492	Q9BW62	KATL1_HUMAN	Homo sapiens katanin p60 subunit A-like 1 (KATNAL1), transcript variant 2, mRNA.	162						cytoplasm|microtubule	ATP binding|microtubule-severing ATPase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)|urinary_tract(3)	19		Lung SC(185;0.0257)		all cancers(112;0.114)|OV - Ovarian serous cystadenocarcinoma(117;0.213)		GCCTTGTCATCTCTCCCTCTT	0.463000														165			80		6.14238e-36	8.14452e-36	1	1	0
PIGA	5277	broad.mit.edu	37	X	15350018	15350018	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:15350018C>T	uc004cwr.3	-	1	151	c.35G>A	c.(34-36)cGt>cAt	p.R12H	PIGA_uc010nev.3_Missense_Mutation_p.R12H|PIGA_uc004cwq.3_5'UTR|PIGA_uc004cws.3_5'UTR|PIGA_uc011miq.2_Intron	NM_002641	NP_002632	P37287	PIGA_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class A (PIGA), transcript variant 1, mRNA.	12					C-terminal protein lipidation|positive regulation of metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity|protein binding			endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)|prostate(2)|urinary_tract(1)	10	Hepatocellular(33;0.183)					AGCTGAGGCACGGTGGCCATT	0.473000														68			37		0	0	1	0	0
CXorf59	286464	broad.mit.edu	37	X	36090059	36090059	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:36090059C>A	uc004ddk.1	+	2	347	c.161C>A	c.(160-162)gCt>gAt	p.A54D		NM_173695	NP_775966	Q8N9S7	CX059_HUMAN	Homo sapiens chromosome X open reading frame 59 (CXorf59), mRNA.	54						integral to membrane				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(18)|skin(1)|upper_aerodigestive_tract(2)	34						TTCAATGATGCTGAACCTGCA	0.363000														38			16		1.15919e-05	1.28923e-05	1	1	0
SIK3	23387	broad.mit.edu	37	11	116798086	116798086	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:116798086C>A	uc001ppy.3	-	3	327	c.291G>T	c.(289-291)gtG>gtT	p.V97V	SIK3_uc001ppz.3_5'UTR|SIK3_uc001pqa.3_Silent_p.V97V	NM_025164	NP_079440	Q9Y2K2	SIK3_HUMAN	Homo sapiens SIK family kinase 3 (SIK3), mRNA.	97	Protein kinase.					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						TACCATGGGCCACCAGGTGGT	0.448000														77			31		1.22384e-17	1.5618e-17	1	1	0
FBXO31	79791	broad.mit.edu	37	16	87367807	87367807	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:87367807C>T	uc002fjw.3	-	7	1126	c.1082G>A	c.(1081-1083)cGc>cAc	p.R361H	FBXO31_uc010vot.2_Missense_Mutation_p.R189H|FBXO31_uc002fjv.3_Missense_Mutation_p.R253H	NM_024735	NP_079011	Q5XUX0	FBX31_HUMAN	Homo sapiens F-box protein 31 (FBXO31), mRNA.	361					SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle|cyclin catabolic process|mitotic cell cycle G1/S transition DNA damage checkpoint	SCF ubiquitin ligase complex	cyclin binding	p.R361H(2)|p.R189H(2)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0272)		ATTGAAGTTGCGCTGGTTCTC	0.682000														40			40		0	0	1	0	0
DNAJA3	9093	broad.mit.edu	37	16	4493049	4493049	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:4493049G>A	uc002cwk.3	+	5	892	c.815G>A	c.(814-816)cGt>cAt	p.R272H	DNAJA3_uc002cwl.3_Missense_Mutation_p.R272H|DNAJA3_uc010uxk.2_Missense_Mutation_p.R119H	NM_005147	NP_005138	Q96EY1	DNJA3_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily A, member 3 (DNAJA3), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	272					activation of caspase activity|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of cell proliferation|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of protein kinase activity|neuromuscular junction development|positive regulation of apoptosis|positive regulation of protein ubiquitination|protein folding|protein stabilization|response to heat|response to interferon-gamma	cytosol|mitochondrial matrix|mitochondrial nucleoid|nucleus	ATP binding|NF-kappaB binding|heat shock protein binding|interferon-gamma receptor binding|metal ion binding|protein kinase binding			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|upper_aerodigestive_tract(2)	15						TTTGTGATGCGTTCCACGTGT	0.502000														38			21		0	0	1	0	0
ILKAP	80895	broad.mit.edu	37	2	239098610	239098610	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:239098610G>T	uc002vxv.3	-	3	312	c.182C>A	c.(181-183)tCt>tAt	p.S61Y	ILKAP_uc010zns.2_5'UTR|ILKAP_uc002vxw.3_5'UTR|ILKAP_uc021vyt.1_Non-coding_Transcript|ILKAP_uc021vyu.1_Intron|ILKAP_uc010znt.1_5'UTR	NM_030768	NP_110395	Q9H0C8	ILKAP_HUMAN	Homo sapiens integrin-linked kinase-associated serine/threonine phosphatase (ILKAP), mRNA.	61						cytoplasm|protein serine/threonine phosphatase complex	metal ion binding|protein binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_lung(227;0.152)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;5.49e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.93e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.82e-08)|BRCA - Breast invasive adenocarcinoma(100;0.00012)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0163)		TGTGGCAAGAGAACCTGGAAA	0.438000														62			7		2.0095e-06	2.27092e-06	1	1	0
DDB1	1642	broad.mit.edu	37	11	61070156	61070156	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:61070156C>T	uc001nrc.4	-	23	3236	c.3010G>A	c.(3010-3012)Gtc>Atc	p.V1004I	DDB1_uc010rle.1_Missense_Mutation_p.V315I|DDB1_uc010rlf.1_Missense_Mutation_p.V1004I	NM_001923	NP_001914	Q16531	DDB1_HUMAN	Homo sapiens damage-specific DNA binding protein 1, 127kDa (DDB1), mRNA.	1004	Interaction with CDT1 and CUL4A.				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						AAGACATTGACAAACTCGCCC	0.562000								Nucleotide excision repair (NER)						121			10		0	0	1	0	0
CHEK2P2	646096	broad.mit.edu	37	15	20489431	20489431	+	RNA	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:20489431G>T	uc001ytf.1	+	2		c.419G>T								Homo sapiens checkpoint kinase 2 pseudogene 2 (CHEK2P2), non-coding RNA.																		TGTCACTGAAGGACCAGATCA	0.418000														50			10		0.00829132	0.00860413	1	1	0
SESN3	143686	broad.mit.edu	37	11	94918426	94918426	+	Silent	SNP	G	A	A	rs138689867		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:94918426G>A	uc001pfk.1	-	4	978	c.756C>T	c.(754-756)aaC>aaT	p.N252N	SESN3_uc010rug.1_Silent_p.N113N|SESN3_uc001pfl.3_Silent_p.N252N	NM_144665	NP_653266	P58005	SESN3_HUMAN	Homo sapiens sestrin 3 (SESN3), mRNA.	252					cell cycle arrest	nucleus				endometrium(5)|large_intestine(6)|lung(3)|skin(1)|stomach(1)	16		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.234)		TAACCCCAAAGTTGCTGCCTG	0.313000														130			89		0	0	1	0	0
ARHGAP9	64333	broad.mit.edu	37	12	57867954	57867954	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57867954G>A	uc001sod.3	-	18	2252	c.2059C>T	c.(2059-2061)Cgg>Tgg	p.R687W	ARHGAP9_uc001sny.3_Intron|ARHGAP9_uc001snz.3_Missense_Mutation_p.R413W|ARHGAP9_uc001soa.3_Missense_Mutation_p.R286W|ARHGAP9_uc001sob.3_Missense_Mutation_p.R597W|ARHGAP9_uc001soc.3_Missense_Mutation_p.R597W|ARHGAP9_uc001soe.1_Missense_Mutation_p.R676W	NM_032496	NP_115885	Q9BRR9	RHG09_HUMAN	Homo sapiens Rho GTPase activating protein 9 (ARHGAP9), transcript variant 1, mRNA.	616	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			AAATCTAACCGACCTTCTGGA	0.517000														23			11		0	0	1	0	0
CPLX3	594855	broad.mit.edu	37	15	75122677	75122677	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:75122677G>A	uc002ayu.1	+	2	1687	c.459G>A	c.(457-459)gaG>gaA	p.E153E		NM_001030005	NP_001025176	Q8WVH0	CPLX3_HUMAN	Homo sapiens complexin 3 (CPLX3), mRNA.	153						cell junction|synapse	syntaxin binding	p.E153D(2)		large_intestine(2)|lung(2)	4						AATCAGCTGAGAAGTGTCACG	0.592000														10			9		0	0	1	0	0
C12orf56	115749	broad.mit.edu	37	12	64661006	64661006	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:64661006G>T	uc021qzu.1	-	12	1826	c.1826C>A	c.(1825-1827)cCt>cAt	p.P609H	BC042855_uc001srx.3_Intron|C12orf56_uc001ssa.4_Missense_Mutation_p.P449H|C12orf56_uc001srz.3_Missense_Mutation_p.P91H|C12orf56_uc001sry.3_Missense_Mutation_p.P191H	NM_001170633	NP_001164104	Q8IXR9	CL056_HUMAN	Homo sapiens chromosome 12 open reading frame 56 (C12orf56), transcript variant 1, mRNA.	612										NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)	15			GBM - Glioblastoma multiforme(3;0.000582)	GBM - Glioblastoma multiforme(28;0.0259)		TTGAATGGTAGGTTGAGTGAT	0.333000														10			8		1.33987e-11	1.64046e-11	1	1	0
AP2B1	163	broad.mit.edu	37	17	33984748	33984748	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:33984748C>T	uc002hjr.3	+	13	2116	c.1927C>T	c.(1927-1929)Cca>Tca	p.P643S	AP2B1_uc002hjq.3_Missense_Mutation_p.P643S|AP2B1_uc010wci.2_Missense_Mutation_p.P605S|AP2B1_uc002hjs.3_Missense_Mutation_p.P586S|AP2B1_uc002hjt.3_Missense_Mutation_p.P643S|AP2B1_uc010ctv.3_Missense_Mutation_p.P643S|AP2B1_uc010wcj.2_Missense_Mutation_p.P380S	NM_001282	NP_001273	P63010	AP2B1_HUMAN	Homo sapiens adaptor-related protein complex 2, beta 1 subunit (AP2B1), transcript variant 2, mRNA.	643	Pro-rich (stalk region).				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|coated pit|cytosol|endocytic vesicle membrane|plasma membrane	clathrin binding|protein transporter activity			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		AGTCAATGTGCCACAGGTGTC	0.488000														36			17		0	0	1	0	0
NLRP12	91662	broad.mit.edu	37	19	54314193	54314193	+	Missense_Mutation	SNP	G	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:54314193G>C	uc002qcj.4	-	2	940	c.720C>G	c.(718-720)ttC>ttG	p.F240L	NLRP12_uc010eqw.3_5'Flank|NLRP12_uc002qch.4_Missense_Mutation_p.F240L|NLRP12_uc002qci.4_Missense_Mutation_p.F240L|NLRP12_uc002qck.4_Non-coding_Transcript|NLRP12_uc010eqx.3_Missense_Mutation_p.F240L	NM_144687	NP_653288	P59046	NAL12_HUMAN	Homo sapiens NLR family, pyrin domain containing 12 (NLRP12), transcript variant 2, mRNA.	240	NACHT.				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of Toll signaling pathway|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		ATCTGCCTTGGAAGAGCTTCC	0.577000														27			10		0	0	1	0	0
SLC2A13	114134	broad.mit.edu	37	12	40345164	40345164	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:40345164C>A	uc010skm.2	-	3	980	c.929G>T	c.(928-930)gGa>gTa	p.G310V	SLC2A13_uc001rmf.3_Missense_Mutation_p.G310V	NM_052885	NP_443117	Q96QE2	MYCT_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 13 (SLC2A13), mRNA.	310						integral to membrane|plasma membrane	myo-inositol:hydrogen symporter activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	29		Lung NSC(34;0.105)|all_lung(34;0.123)				GATCACAGGTCCAGCTTTTTT	0.373000										HNSCC(50;0.14)				20			7		2.0095e-06	2.27092e-06	1	1	0
FBN3	84467	broad.mit.edu	37	19	8152081	8152081	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:8152081C>T	uc002mjf.3	-	52	6651	c.6634G>A	c.(6634-6636)Gca>Aca	p.A2212T	FBN3_uc002mje.3_Missense_Mutation_p.A51T	NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	2212	EGF-like 36; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						TGACCATCTGCACACTCGTCC	0.632000														30			18		0	0	1	0	0
SLC4A3	6508	broad.mit.edu	37	2	220504340	220504340	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:220504340G>A	uc002vmo.4	+	19	3450	c.3241G>A	c.(3241-3243)Gtc>Atc	p.V1081I	SLC4A3_uc002vmp.4_Missense_Mutation_p.V1054I|SLC4A3_uc010fwm.3_Missense_Mutation_p.V604I	NM_201574	NP_963868	P48751	B3A3_HUMAN	Homo sapiens solute carrier family 4, anion exchanger, member 3 (SLC4A3), transcript variant 2, mRNA.	1054	Membrane (anion exchange).				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity	p.V1081I(2)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGTCCGCTCCGTCACCCATGT	0.652000														28			25		0	0	1	0	0
TMCC1	23023	broad.mit.edu	37	3	129389913	129389913	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:129389913G>A	uc021xdy.1	-	3	1205	c.771C>T	c.(769-771)gaC>gaT	p.D257D	TMCC1_uc003emy.4_5'UTR|TMCC1_uc011blc.2_Silent_p.D78D|TMCC1_uc010htg.3_Silent_p.D143D	NM_001017395	NP_001121696	O94876	TMCC1_HUMAN	Homo sapiens transmembrane and coiled-coil domain family 1 (TMCC1), transcript variant 1, mRNA.	257						integral to membrane			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						CAGCAACGTTGTCGTCCCGGG	0.507000														89			69		0	0	1	0	0
ARHGAP22	58504	broad.mit.edu	37	10	49662148	49662148	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:49662148C>T	uc001jgu.3	-	6	1194	c.897G>A	c.(895-897)ctG>ctA	p.L299L	ARHGAP22_uc001jgs.3_Silent_p.L193L|ARHGAP22_uc001jgt.3_Silent_p.L283L|ARHGAP22_uc010qgl.2_Silent_p.L240L|ARHGAP22_uc010qgm.2_Silent_p.L289L|ARHGAP22_uc001jgv.3_5'UTR|ARHGAP22_uc001jgr.3_5'Flank	NM_021226	NP_067049	Q7Z5H3	RHG22_HUMAN	Homo sapiens Rho GTPase activating protein 22 (ARHGAP22), transcript variant 3, mRNA.	283	Rho-GAP.				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol|nucleus	GTPase activator activity			endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TGTATCTGAGCAGGTTGTAAT	0.527000														63			6		0	0	1	0	0
CHD6	84181	broad.mit.edu	37	20	40050062	40050062	+	Nonsense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:40050062G>T	uc002xka.1	-	30	5391	c.5213C>A	c.(5212-5214)tCa>tAa	p.S1738*		NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 6 (CHD6), mRNA.	1738					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|chromatin binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				TTTGCTTATTGAGATGGTAAT	0.453000														41			51		1.39843e-22	1.81711e-22	1	1	0
PLEKHG4B	153478	broad.mit.edu	37	5	163454	163454	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:163454T>C	uc003jak.2	+	10	2249	c.2199T>C	c.(2197-2199)ccT>ccC	p.P733P		NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 4B (PLEKHG4B), mRNA.	733					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		TCGAGATACCTCAGCCCGACA	0.567000														108			12		0	0	1	0	0
MLYCD	23417	broad.mit.edu	37	16	83948953	83948953	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:83948953C>A	uc002fgz.3	+	4	1361	c.1341C>A	c.(1339-1341)tcC>tcA	p.S447S		NM_012213	NP_036345	O95822	DCMC_HUMAN	Homo sapiens malonyl-CoA decarboxylase (MLYCD), nuclear gene encoding mitochondrial protein, mRNA.	447					acyl-CoA metabolic process|fatty acid biosynthetic process	mitochondrion|peroxisome	malonyl-CoA decarboxylase activity|methylmalonyl-CoA decarboxylase activity			NS(1)|biliary_tract(1)|breast(1)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						TCACCGGCTCCTGCGGCCTGA	0.632000														66			9		7.48243e-07	8.52591e-07	1	1	0
MACF1	23499	broad.mit.edu	37	1	39763312	39763312	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:39763312G>A	uc021olt.1	+	19	2443	c.2391G>A	c.(2389-2391)gaG>gaA	p.E797E	MACF1_uc021ols.1_Silent_p.E797E|MACF1_uc001cdc.2_Silent_p.E797E|MACF1_uc001cda.1_Silent_p.E705E|MACF1_uc009vvq.1_5'Flank|MACF1_uc001cdb.1_5'Flank	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	797					Golgi to plasma membrane protein transport|Wnt receptor signaling pathway|cell cycle arrest|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|wound healing	Golgi apparatus|microtubule|ruffle membrane	ATPase activity|actin filament binding|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			ATGCACGAGAGCTGGAGTCAT	0.418000														75			36		0	0	1	0	0
ADD3	120	broad.mit.edu	37	10	111872641	111872641	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:111872641A>G	uc001kyu.3	+	2	458	c.302A>G	c.(301-303)aAt>aGt	p.N101S	ADD3_uc001kyt.4_Missense_Mutation_p.N101S|ADD3_uc001kys.4_Missense_Mutation_p.N101S|ADD3_uc001kyv.3_Missense_Mutation_p.N101S|ADD3_uc001kyw.3_Missense_Mutation_p.N101S	NM_016824	NP_058432	Q9UEY8	ADDG_HUMAN	Homo sapiens adducin 3 (gamma) (ADD3), transcript variant 1, mRNA.	101						cytoskeleton	actin binding|calmodulin binding|metal ion binding|structural constituent of cytoskeleton			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	29		Breast(234;0.052)|Lung NSC(174;0.223)		Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742)		ATCATGGCCAATTCTTTCTCG	0.393000														168			12		0	0	1	0	0
ITPRIP	85450	broad.mit.edu	37	10	106074366	106074366	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:106074366G>A	uc001kyf.3	-	2	1897	c.1444C>T	c.(1444-1446)Cgc>Tgc	p.R482C	ITPRIP_uc001kye.3_Missense_Mutation_p.R482C|ITPRIP_uc001kyg.3_Missense_Mutation_p.R482C|ITPRIP_uc021pxv.1_Missense_Mutation_p.R482C	NM_033397	NP_203755	Q8IWB1	IPRI_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor interacting protein (ITPRIP), mRNA.	482						plasma membrane				breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						GGCACCTTGCGGTTGCCGATG	0.622000														90			19		0	0	1	0	0
MED1	5469	broad.mit.edu	37	17	37563934	37563934	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:37563934G>A	uc002hrv.4	-	16	4752	c.4540C>T	c.(4540-4542)Cga>Tga	p.R1514*	MED1_uc010wee.2_Nonsense_Mutation_p.R1342*|MED1_uc002hru.2_Intron	NM_004774	NP_004765	Q15648	MED1_HUMAN	Homo sapiens mediator complex subunit 1 (MED1), mRNA.	1514	Lys-rich.				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|RNA polymerase II transcription cofactor activity|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|thyroid hormone receptor binding|vitamin D receptor binding			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		tcccggtctcggtccctatct	0.443000										HNSCC(31;0.082)				34			18		0	0	1	0	0
MFAP1	4236	broad.mit.edu	37	15	44105185	44105185	+	Splice_Site	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:44105185G>A	uc001zth.1	-	6	1071	c.887_splice	c.e6+1	p.A296_splice		NM_005926	NP_005917	P55081	MFAP1_HUMAN	Homo sapiens microfibrillar-associated protein 1 (MFAP1), mRNA.	296						microfibril				breast(2)|endometrium(1)|kidney(1)|lung(6)|skin(2)|upper_aerodigestive_tract(3)	15		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.33e-07)		TTTTACTCACGCTTCTCGATC	0.423000														201			130		0	0	1	0	0
KLF4	9314	broad.mit.edu	37	9	110250325	110250325	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:110250325G>A	uc004bdh.3	-	2	944	c.323C>T	c.(322-324)cCg>cTg	p.P108L	KLF4_uc004bdf.2_Missense_Mutation_p.P67L|KLF4_uc022blk.1_Intron|KLF4_uc004bdg.3_Missense_Mutation_p.P117L	NM_004235	NP_004226	O43474	KLF4_HUMAN	Homo sapiens Kruppel-like factor 4 (gut) (KLF4), mRNA.	117					fat cell differentiation|mesodermal cell fate determination|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|stem cell maintenance|transcription from RNA polymerase II promoter	nucleus	RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor recruiting transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(5)|large_intestine(1)|lung(3)|pancreas(1)|prostate(2)	16						CACTGACTCCGGAGGATGGGT	0.647000														11			8		0	0	1	0	0
KRTAP9-4	85280	broad.mit.edu	37	17	39406017	39406017	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:39406017G>A	uc002hwi.3	+	0	79	c.45G>A	c.(43-45)agG>agA	p.R15R		NM_033191	NP_149461	Q9BYQ2	KRA94_HUMAN	Homo sapiens keratin associated protein 9-4 (KRTAP9-4), mRNA.	15	15 X 5 AA repeats of C-C-[RQVGE]-[SPTN]- [TASPF].					keratin filament				breast(1)|large_intestine(1)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			CATGCTGCAGGACCACCTGCT	0.602000														45			21		0	0	1	0	0
ODZ2	57451	broad.mit.edu	37	5	167642134	167642134	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:167642134G>A	uc010jjd.3	+	20	3908	c.3908G>A	c.(3907-3909)cGc>cAc	p.R1303H	ODZ2_uc003lzr.4_Missense_Mutation_p.R1073H|ODZ2_uc003lzt.4_Missense_Mutation_p.R676H|ODZ2_uc010jje.3_Missense_Mutation_p.R567H	NM_001122679	NP_001116151			Homo sapiens odz, odd Oz/ten-m homolog 2 (Drosophila) (ODZ2), mRNA.											NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|lung(45)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(2)	122	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		AGAATCTACCGCGTCAAGTCT	0.562000														51			34		0	0	1	0	0
ZNF438	220929	broad.mit.edu	37	10	31137485	31137485	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:31137485G>A	uc010qdz.2	-	6	2284	c.1849C>T	c.(1849-1851)Cga>Tga	p.R617*	ZNF438_uc001ivn.3_Nonsense_Mutation_p.R568*|ZNF438_uc010qdy.2_Nonsense_Mutation_p.R607*|ZNF438_uc001ivo.4_Nonsense_Mutation_p.R181*|ZNF438_uc009xlg.3_Nonsense_Mutation_p.R617*|ZNF438_uc001ivp.4_Nonsense_Mutation_p.R607*|ZNF438_uc010qea.2_Nonsense_Mutation_p.R617*|ZNF438_uc010qeb.2_Nonsense_Mutation_p.R617*|ZNF438_uc010qec.1_Nonsense_Mutation_p.R181*	NM_182755	NP_001137241	Q7Z4V0	ZN438_HUMAN	Homo sapiens zinc finger protein 438 (ZNF438), transcript variant 2, mRNA.	617					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(175;0.0587)				TCCATGCCTCGCACACTCATG	0.498000														27			10		0	0	1	0	0
CR2	1380	broad.mit.edu	37	1	207640205	207640205	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:207640205G>A	uc001hfw.3	+	1	512	c.393G>A	c.(391-393)tgG>tgA	p.W131*	CR2_uc001hfv.3_Nonsense_Mutation_p.W131*|CR2_uc009xch.3_Nonsense_Mutation_p.W131*	NM_001877	NP_001868	P20023	CR2_HUMAN	Homo sapiens complement component (3d/Epstein Barr virus) receptor 2 (CR2), transcript variant 2, mRNA.	131	Sushi 2.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						AGTCTGTTTGGTGTCAAGCAA	0.458000														64			4		0	0	1	0	0
CDK13	8621	broad.mit.edu	37	7	40133900	40133900	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:40133900C>T	uc003thh.4	+	13	4142	c.3860C>T	c.(3859-3861)aCc>aTc	p.T1287I	CDK13_uc003thi.4_Missense_Mutation_p.T1227I|CDK13_uc003thj.3_Missense_Mutation_p.T338I|CDK13_uc003thk.3_Missense_Mutation_p.T220I	NM_003718	NP_003709	Q14004	CDK13_HUMAN	Homo sapiens cyclin-dependent kinase 13 (CDK13), transcript variant 1, mRNA.	1287					alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|RNA polymerase II carboxy-terminal domain kinase activity|cyclin-dependent protein kinase activity|protein binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						GTACCCACCACCAGTTCTTCA	0.542000														104			29		0	0	1	0	0
TMEM204	79652	broad.mit.edu	37	16	1584372	1584372	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:1584372C>T	uc002cmc.2	+	1	494	c.96C>T	c.(94-96)tgC>tgT	p.C32C	IFT140_uc002clz.3_Intron|IFT140_uc002cmb.3_Intron|TMEM204_uc002cmd.2_Silent_p.C32C|TMEM204_uc010brr.1_Silent_p.C32C	NM_024600	NP_078876	Q9BSN7	TM204_HUMAN	Homo sapiens transmembrane protein 204 (TMEM204), mRNA.	32					response to stress	adherens junction|integral to membrane				NS(1)|breast(1)|cervix(1)|endometrium(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	11		Hepatocellular(780;0.219)				ACTGGGTGTGCCAGACGCTGG	0.701000														37			39		0	0	1	0	0
C14orf118	55668	broad.mit.edu	37	14	76621011	76621011	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:76621011C>T	uc001xsh.3	+	1	391	c.305C>T	c.(304-306)gCc>gTc	p.A102V	C14orf118_uc001xsi.3_Missense_Mutation_p.A102V|C14orf118_uc001xsj.1_Missense_Mutation_p.A102V|C14orf118_uc001xsk.1_Missense_Mutation_p.A102V|C14orf118_uc001xsl.3_Non-coding_Transcript	NM_017926	NP_060396	Q9NWQ4	CN118_HUMAN	Homo sapiens chromosome 14 open reading frame 118 (C14orf118), transcript variant 1, mRNA.	102										endometrium(1)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)|skin(2)	16				BRCA - Breast invasive adenocarcinoma(234;0.0172)		GCTCTCAATGCCATTGTCAAG	0.502000														36			30		0	0	1	0	0
LOC440041	440041	broad.mit.edu	37	11	55064983	55064983	+	RNA	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:55064983A>G	uc021qjb.1	-	1		c.443T>C			LOC440041_uc001nhl.1_Non-coding_Transcript					Homo sapiens SPRY domain containing 5 pseudogene (LOC440041), non-coding RNA.																		GGTGGTTTCCATGTTCAGGTT	0.408000														57			6		0	0	1	0	0
RIOK1	83732	broad.mit.edu	37	6	7411575	7411575	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:7411575G>A	uc003mxn.3	+	13	1454	c.1280G>A	c.(1279-1281)cGa>cAa	p.R427Q	RIOK1_uc003mxo.3_Missense_Mutation_p.R186Q	NM_031480	NP_694550	Q9BRS2	RIOK1_HUMAN	Homo sapiens RIO kinase 1 (yeast) (RIOK1), transcript variant 1, mRNA.	427	Protein kinase.						ATP binding|protein serine/threonine kinase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					GTGTTTAAGCGAGCATATATT	0.383000														45			28		0	0	1	0	0
NDUFAF1	51103	broad.mit.edu	37	15	41688736	41688736	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:41688736G>A	uc001znx.3	-	1	920	c.522C>T	c.(520-522)gaC>gaT	p.D174D	NDUFAF1_uc010bcf.3_Non-coding_Transcript	NM_016013	NP_057097	Q9Y375	CIA30_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 1 (NDUFAF1), transcript variant 1, mRNA.	174					mitochondrial electron transport, NADH to ubiquinone|protein complex assembly	mitochondrial respiratory chain complex I	unfolded protein binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	12		all_cancers(109;5.07e-19)|all_epithelial(112;2.43e-16)|Lung NSC(122;1.81e-11)|all_lung(180;4.81e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;8e-17)|GBM - Glioblastoma multiforme(113;1.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.114)		TAGACTCCCCGTCCTGAGGCG	0.488000														36			19		0	0	1	0	0
MORC3	23515	broad.mit.edu	37	21	37710068	37710068	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:37710068T>C	uc002yvi.3	+	3	360	c.284T>C	c.(283-285)gTc>gCc	p.V95A	MORC3_uc021wiz.1_5'Flank	NM_015358	NP_056173	Q14149	MORC3_HUMAN	Homo sapiens MORC family CW-type zinc finger 3 (MORC3), mRNA.	95					cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization	PML body|aggresome|intermediate filament cytoskeleton	ATP binding|zinc ion binding			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						AATGGTCATGTCCCAGTTGGA	0.353000														41			32		0	0	1	0	0
CD151	977	broad.mit.edu	37	11	836123	836123	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:836123C>T	uc001lry.3	+	2	198	c.54C>T	c.(52-54)taC>taT	p.Y18Y	CD151_uc001lrx.3_Non-coding_Transcript|CD151_uc001lrz.3_Silent_p.Y18Y|CD151_uc001lsa.3_Silent_p.Y18Y|CD151_uc001lsb.3_Silent_p.Y18Y	NM_004357	NP_620599	P48509	CD151_HUMAN	Homo sapiens CD151 molecule (Raph blood group) (CD151), transcript variant 1, mRNA.	18					cell adhesion|hemidesmosome assembly	cytosol|integral to plasma membrane|membrane fraction	protein binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	3		all_cancers(49;2.31e-08)|all_epithelial(84;3.72e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.179)|all_lung(207;0.227)		all cancers(45;1.54e-25)|Epithelial(43;1.22e-24)|OV - Ovarian serous cystadenocarcinoma(40;6.91e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GCCTCAAGTACCTGCTGTTTA	0.632000														17			11		0	0	1	0	0
WDR47	22911	broad.mit.edu	37	1	109538268	109538268	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:109538268G>T	uc001dwl.3	-	7	2025	c.1649C>A	c.(1648-1650)aCt>aAt	p.T550N	WDR47_uc001dwi.3_Missense_Mutation_p.T543N|WDR47_uc001dwj.3_Missense_Mutation_p.T542N|WDR47_uc001dwk.2_Missense_Mutation_p.T514N|WDR47_uc010ovf.2_Missense_Mutation_p.T469N	NM_001142550	NP_001136022	O94967	WDR47_HUMAN	Homo sapiens WD repeat domain 47 (WDR47), transcript variant 1, mRNA.	542										breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		ATTACGAGGAGTGCTTGTATG	0.388000														382			18		7.45023e-12	9.14443e-12	1	1	0
SLC9A3	6550	broad.mit.edu	37	5	476767	476767	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:476767A>G	uc003jbe.2	-	11	1893	c.1781T>C	c.(1780-1782)gTc>gCc	p.V594A	SLC9A3_uc011clx.1_Missense_Mutation_p.V585A|BC013821_uc011cly.2_5'Flank	NM_004174	NP_004165	P48764	SL9A3_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 3 (SLC9A3), mRNA.	594	Interaction with PDZD3 (By similarity).					cell surface|integral to membrane	sodium:hydrogen antiporter activity			NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			GTCCAGGCAGACAGCGCTGAC	0.657000														13			6		0	0	1	0	0
WBSCR16	81554	broad.mit.edu	37	7	74470046	74470046	+	Missense_Mutation	SNP	C	T	T	rs140481718	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:74470046C>T	uc003ubr.3	-	8	1319	c.1193G>A	c.(1192-1194)cGc>cAc	p.R398H	WBSCR16_uc010lca.3_Missense_Mutation_p.R201H|WBSCR16_uc010lcb.1_Missense_Mutation_p.R398H	NM_030798	NP_110425	Q96I51	WBS16_HUMAN	Homo sapiens Williams-Beuren syndrome chromosome region 16 (WBSCR16), mRNA.	398								p.R398C(1)|p.R398S(1)		kidney(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						ACATCGGATGCGGGAAACCTG	0.542000														12			23		0	0	1	0	0
ZXDA	7789	broad.mit.edu	37	X	57936083	57936083	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:57936083G>A	uc004dve.3	-	0	985	c.772C>T	c.(772-774)Ctg>Ttg	p.L258L		NM_007156	NP_009087	P98168	ZXDA_HUMAN	Homo sapiens zinc finger, X-linked, duplicated A (ZXDA), mRNA.	258					positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|prostate(2)|skin(1)	37						CCAGAGCCCAGCAGTCCGCGG	0.721000														6			5		0	0	1	0	0
YIPF2	78992	broad.mit.edu	37	19	11034337	11034337	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:11034337G>T	uc002mqc.3	-	7	795	c.668C>A	c.(667-669)cCt>cAt	p.P223H	DQ597473_uc021upb.1_5'Flank|YIPF2_uc002mqb.3_Missense_Mutation_p.P223H	NM_024029	NP_076934	Q9BWQ6	YIPF2_HUMAN	Homo sapiens Yip1 domain family, member 2 (YIPF2), mRNA.	223						integral to membrane|transport vesicle				cervix(1)|endometrium(1)|lung(3)|ovary(2)	7						CCAAGGCACAGGGATGAGCCA	0.687000														24			4		0.150653	0.152248	1	1	0
C20orf96	140680	broad.mit.edu	37	20	270254	270254	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:270254G>A	uc002wde.2	-	2	301	c.133C>T	c.(133-135)Caa>Taa	p.Q45*	C20orf96_uc021vzl.1_Nonsense_Mutation_p.Q44*|C20orf96_uc010zpi.2_5'UTR|C20orf96_uc010zpj.1_Intron|C20orf96_uc010zpk.2_Intron	NM_153269	NP_695001	Q9NUD7	CT096_HUMAN	Homo sapiens chromosome 20 open reading frame 96 (C20orf96), transcript variant 1, mRNA.	45										endometrium(3)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12		all_cancers(10;0.00959)|Lung NSC(37;0.227)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			CTGTTGGCTTGTTGGACTGGA	0.502000														57			44		0	0	1	0	0
LRRN4	164312	broad.mit.edu	37	20	6031520	6031520	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:6031520C>T	uc002wmo.2	-	2	989	c.765G>A	c.(763-765)ctG>ctA	p.L255L	LRRN4_uc002wmp.3_Silent_p.L255L	NM_152611	NP_689824	Q8WUT4	LRRN4_HUMAN	Homo sapiens leucine rich repeat neuronal 4 (LRRN4), mRNA.	255						integral to membrane				breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						CCAGCTGCTGCAGGTTGGGGG	0.547000														44			29		0	0	1	0	0
ABCA2	20	broad.mit.edu	37	9	139911711	139911711	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:139911711C>T	uc004ckm.1	-	17	2627	c.2577G>A	c.(2575-2577)atG>atA	p.M859I	ABCA2_uc022bpy.1_Missense_Mutation_p.M760I|ABCA2_uc022bpz.1_Missense_Mutation_p.M830I|ABCA2_uc011mem.1_Missense_Mutation_p.M829I|ABCA2_uc004ckl.1_Missense_Mutation_p.M760I|ABCA2_uc004ckn.1_Non-coding_Transcript	NM_212533	NP_997698	Q9BZC7	ABCA2_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 2 (ABCA2), transcript variant 2, mRNA.	829					cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		TCGCCACGTACATGTAGGGCA	0.647000														56			5		0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34180325	34180325	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:34180325G>A	uc001bxm.1	-	20	3445	c.3268C>T	c.(3268-3270)Cgg>Tgg	p.R1090W	CSMD2_uc001bxn.1_Missense_Mutation_p.R1050W	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	1050	Sushi 6.					integral to membrane|plasma membrane	protein binding	p.S1089L(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				AAGCCCTTCCGGATGCTGTAG	0.642000														40			19		0	0	1	0	0
PCM1	5108	broad.mit.edu	37	8	17822079	17822079	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:17822079C>T	uc022asj.1	+	16	2796	c.2774C>T	c.(2773-2775)aCg>aTg	p.T925M	PCM1_uc003wyi.4_Missense_Mutation_p.T886M|PCM1_uc011kyh.2_Missense_Mutation_p.T886M|PCM1_uc003wyj.4_Missense_Mutation_p.T887M	NM_006197	NP_006188	Q15154	PCM1_HUMAN	Homo sapiens pericentriolar material 1 (PCM1), mRNA.	886					G2/M transition of mitotic cell cycle|centrosome organization|cilium assembly|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding		PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		ATCACTAGAACGATGGCAACT	0.418000			T	"""RET, JAK2"""	"""papillary thyroid, CML, MPD"""									15			6		0	0	1	0	0
BCL2L2-PABPN1	100529063	broad.mit.edu	37	14	23793493	23793493	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:23793493C>A	uc001wjh.4	+	7	1186	c.957C>A	c.(955-957)gtC>gtA	p.V319V	BCL2L2-PABPN1_uc001wjj.3_Silent_p.V292V|BCL2L2-PABPN1_uc001wjk.3_Silent_p.V292V	NM_001199864	NP_001186793			Homo sapiens BCL2L2-PABPN1 readthrough (BCL2L2-PABPN1), mRNA.																		GGGGTCGCGTCTACAGGTCAG	0.637000														55			15		5.01169e-05	5.49149e-05	1	1	0
MUC17	140453	broad.mit.edu	37	7	100684913	100684913	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100684913G>A	uc003uxp.1	+	2	10269	c.10216G>A	c.(10216-10218)Gtc>Atc	p.V3406I	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	3406	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)					AAGTATGCCTGTCAGCACCAC	0.493000														370			38		0	0	1	0	0
TMLHE	55217	broad.mit.edu	37	X	154754131	154754131	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:154754131G>A	uc004fnn.3	-	2	515	c.344C>T	c.(343-345)aCa>aTa	p.T115I	TMLHE_uc004fnp.4_Missense_Mutation_p.T115I	NM_018196	NP_060666	Q9NVH6	TMLH_HUMAN	Homo sapiens trimethyllysine hydroxylase, epsilon (TMLHE), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	115					carnitine biosynthetic process	mitochondrial matrix	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|trimethyllysine dioxygenase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Succinic acid(DB00139)|Vitamin C(DB00126)	GAAAAAGAGTGTGGTCTCATC	0.443000														200			121		0	0	1	0	0
TOR1AIP1	26092	broad.mit.edu	37	1	179887080	179887080	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:179887080A>G	uc001gnq.3	+	9	1676	c.1458A>G	c.(1456-1458)gcA>gcG	p.A486A		NM_015602	NP_056417	Q5JTV8	TOIP1_HUMAN	Homo sapiens torsin A interacting protein 1 (TOR1AIP1), mRNA.	486						integral to membrane|nuclear inner membrane		p.P485P(1)		breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	18						CATTTCCCGCAGGCTCTACTT	0.443000														58			5		0	0	1	0	0
IWS1	55677	broad.mit.edu	37	2	128262742	128262742	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:128262742C>T	uc002ton.2	-	2	1040	c.737G>A	c.(736-738)cGt>cAt	p.R246H	IWS1_uc010yzl.1_Non-coding_Transcript|IWS1_uc010fma.2_Non-coding_Transcript	NM_017969	NP_060439	Q96ST2	IWS1_HUMAN	Homo sapiens IWS1 homolog (S. cerevisiae) (IWS1), mRNA.	246	3 X approximate tandem repeats.|Glu-rich.				transcription, DNA-dependent	nucleus	DNA binding			cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		GTCACTGATACGAGGTTTGGG	0.517000														101			79		0	0	1	0	0
ANO6	196527	broad.mit.edu	37	12	45810504	45810504	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:45810504C>A	uc010slf.2	+	17	2432	c.2097C>A	c.(2095-2097)acC>acA	p.T699T	ANO6_uc001roo.3_Silent_p.T678T|ANO6_uc010sld.1_Silent_p.T678T|ANO6_uc010sle.1_Silent_p.T678T|ANO6_uc010slg.2_Silent_p.T660T	NM_001204803	NP_001191732	Q4KMQ2	ANO6_HUMAN	Homo sapiens anoctamin 6 (ANO6), transcript variant 5, mRNA.	678					activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet	chloride channel complex|plasma membrane	chloride channel activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						GGTTCGTCACCTTATTTGTGG	0.443000														25			12		0.0202918	0.0208584	1	1	0
PIGO	84720	broad.mit.edu	37	9	35090505	35090505	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:35090505G>T	uc003zwd.3	-	7	3208	c.2812C>A	c.(2812-2814)Cta>Ata	p.L938I	PIGO_uc003zwe.3_Missense_Mutation_p.L521I|PIGO_uc003zwf.3_Missense_Mutation_p.L521I|PIGO_uc003zwc.1_3'UTR|PIGO_uc003zwg.2_Missense_Mutation_p.L501I	NM_032634	NP_116023	Q8TEQ8	PIGO_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class O (PIGO), transcript variant 1, mRNA.	938				PFTVPWQAVSAWALMATQTFYSTGHQPVFPAIHWHAAFVGF PEGHGSCTWLPALLVGANTFASHLLFAVGCPLLLLWPFLCE SQGL -> KYLSSDSLKDNSDVSSAPLVFKEVLLLMFLSLT EGPMPHTTRKVFLVSSLLPAIAKQIDPSCWFPGFMERRDKE SSKTPCGNAASS (in Ref. 8).	C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity			endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GCTCCCACTAGCAAAGCAGGC	0.557000														24			13		4.36969e-10	5.24943e-10	1	1	0
SLC2A7	155184	broad.mit.edu	37	1	9083027	9083027	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:9083027G>A	uc009vmo.1	-	2	261	c.261C>T	c.(259-261)ggC>ggT	p.G87G		NM_207420	NP_997303	Q6PXP3	GTR7_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 7 (SLC2A7), mRNA.	87						integral to membrane|plasma membrane	sugar transmembrane transporter activity	p.G87G(2)		NS(1)|breast(1)|endometrium(4)|large_intestine(10)|lung(4)|prostate(2)|skin(2)	24	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.04e-07)|COAD - Colon adenocarcinoma(227;7.66e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		CCAACAGGCCGCCCAGAGGAA	0.517000														89			80		0	0	1	0	0
KIF5A	3798	broad.mit.edu	37	12	57969503	57969503	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57969503C>T	uc001sor.1	+	16	2194	c.1986C>T	c.(1984-1986)gaC>gaT	p.D662D	KIF5A_uc010srr.1_Silent_p.D573D	NM_004984	NP_004975	Q12840	KIF5A_HUMAN	Homo sapiens kinesin family member 5A (KIF5A), mRNA.	662					blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						AGTCCTATGACTCCTTGAGCG	0.532000														132			70		0	0	1	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113522168	113522168	+	Nonsense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:113522168C>A	uc010ljy.1	-	2	923	c.892G>T	c.(892-894)Gaa>Taa	p.E298*		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA.	298					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TTACTGGCTTCCAAATCTTCC	0.333000														95			6		0.00198382	0.00208369	1	1	0
ALG3	10195	broad.mit.edu	37	3	183960347	183960347	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:183960347C>T	uc003fne.2	-	8	1303	c.1272G>A	c.(1270-1272)ccG>ccA	p.P424P	ALG3_uc011brc.1_Silent_p.P389P|ALG3_uc011brd.1_Silent_p.P368P|ALG3_uc011bre.1_Silent_p.P376P	NM_005787	NP_005778	Q92685	ALG3_HUMAN	Homo sapiens asparagine-linked glycosylation 3, alpha-1,3- mannosyltransferase homolog (S. cerevisiae) (ALG3), transcript variant 1, mRNA.	424					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	alpha-1,3-mannosyltransferase activity	p.P424P(2)		kidney(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GGAAAGGCTGCGGGCCCAGCC	0.592000														13			8		0	0	1	0	0
KLRG1	10219	broad.mit.edu	37	12	9142222	9142222	+	Splice_Site	SNP	T	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:9142222T>A	uc001qvh.3	+	1	1	c.-10_splice	c.e1-1		KLRG1_uc001qvg.3_Splice_Site	NM_005810	NP_005801	Q96E93	KLRG1_HUMAN	Homo sapiens killer cell lectin-like receptor subfamily G, member 1 (KLRG1), mRNA.						cell surface receptor linked signaling pathway|cellular defense response|inflammatory response|regulation of immune response	integral to membrane	receptor activity|sugar binding			breast(1)|central_nervous_system(1)|kidney(1)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1)	8						GTGAAAGATCTTAGCTGAAGA	0.403000														48			21		0	0	1	0	0
C3	718	broad.mit.edu	37	19	6697416	6697416	+	Missense_Mutation	SNP	A	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:6697416A>T	uc002mfm.3	-	20	2797	c.2735T>A	c.(2734-2736)gTc>gAc	p.V912D		NM_000064	NP_000055	P01024	CO3_HUMAN	Homo sapiens complement component 3 (C3), mRNA.	912					G-protein coupled receptor protein signaling pathway|complement activation, alternative pathway|complement activation, classical pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		AGCAGCCTTGACTTCCACTTC	0.557000														38			8		0	0	1	0	0
CCDC138	165055	broad.mit.edu	37	2	109405347	109405347	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:109405347C>T	uc002ten.1	+	2	251	c.191C>T	c.(190-192)tCg>tTg	p.S64L	CCDC138_uc002teo.1_Missense_Mutation_p.S64L|CCDC138_uc002tep.1_5'UTR|CCDC138_uc010fjm.1_5'UTR	NM_144978	NP_659415	Q96M89	CC138_HUMAN	Homo sapiens coiled-coil domain containing 138 (CCDC138), mRNA.	64										endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	14						GTTGGTTCATCGTTAAAATAT	0.358000														68			40		0	0	1	0	0
MAP3K8	1326	broad.mit.edu	37	10	30747036	30747036	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:30747036C>T	uc001ivi.2	+	6	1509	c.897C>T	c.(895-897)atC>atT	p.I299I	MAP3K8_uc009xlf.2_Silent_p.I299I|MAP3K8_uc001ivj.2_Silent_p.I299I	NM_005204	NP_005195	P41279	M3K8_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 8 (MAP3K8), transcript variant 1, mRNA.	299	Protein kinase.				T cell costimulation|cell cycle	cytosol	ATP binding|MAP kinase kinase kinase activity|magnesium ion binding|protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Prostate(175;0.151)				CAGAGGTCATCCTGTGCAGGG	0.537000														32			12		0	0	1	0	0
GABRQ	55879	broad.mit.edu	37	X	151806759	151806759	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:151806759G>A	uc004ffp.1	+	0	123	c.103G>A	c.(103-105)Gag>Aag	p.E35K		NM_018558	NP_061028	Q9UN88	GBRT_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) receptor, theta (GABRQ), mRNA.	35						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|neurotransmitter transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)					ATTCCACTTCGAGTTCTCCTC	0.637000														58			10		0	0	1	0	0
MTR	4548	broad.mit.edu	37	1	236966835	236966835	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:236966835G>A	uc001hyi.4	+	1	565	c.142G>A	c.(142-144)Gaa>Aaa	p.E48K	MTR_uc010pxv.1_Intron|MTR_uc010pxw.2_5'UTR|MTR_uc010pxx.2_Missense_Mutation_p.E48K|MTR_uc010pxy.2_Missense_Mutation_p.E48K	NM_000254	NP_000245	Q99707	METH_HUMAN	Homo sapiens 5-methyltetrahydrofolate-homocysteine methyltransferase (MTR), mRNA.	48	Hcy-binding.				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	GAAGCTAAACGAAGAACACTT	0.463000														49			49		0	0	1	0	0
SST	6750	broad.mit.edu	37	3	187386859	187386859	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:187386859G>T	uc003frn.3	-	1	467	c.345C>A	c.(343-345)tcC>tcA	p.S115S		NM_001048	NP_001039	P61278	SMS_HUMAN	Homo sapiens somatostatin (SST), mRNA.	115					G-protein coupled receptor protein signaling pathway|digestion|induction of apoptosis by hormones|negative regulation of cell proliferation|response to nutrient|synaptic transmission	extracellular space	hormone activity			kidney(1)|large_intestine(1)|lung(6)|pancreas(1)	9	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.00444)	Bromocriptine(DB01200)|Cysteamine(DB00847)	AAAGCTAACAGGATGTGAAAG	0.507000														150			8		5.18039e-06	5.80246e-06	1	1	0
C12orf56	115749	broad.mit.edu	37	12	64664353	64664353	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:64664353C>A	uc021qzu.1	-	11	1726	c.1726G>T	c.(1726-1728)Gct>Tct	p.A576S	BC042855_uc001srx.3_Intron|C12orf56_uc001ssa.4_Missense_Mutation_p.A416S|C12orf56_uc001srz.3_Missense_Mutation_p.A58S|C12orf56_uc001sry.3_Missense_Mutation_p.A158S	NM_001170633	NP_001164104	Q8IXR9	CL056_HUMAN	Homo sapiens chromosome 12 open reading frame 56 (C12orf56), transcript variant 1, mRNA.	579										NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)	15			GBM - Glioblastoma multiforme(3;0.000582)	GBM - Glioblastoma multiforme(28;0.0259)		ATATACTCAGCTAGAGTCCTG	0.403000														22			3		0.004672	0.00486265	1	1	0
TINAGL1	64129	broad.mit.edu	37	1	32050780	32050780	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:32050780T>C	uc001bta.3	+	7	1012	c.886T>C	c.(886-888)Tcg>Ccg	p.S296P	TINAGL1_uc010ogj.2_Missense_Mutation_p.S265P|TINAGL1_uc010ogk.1_Missense_Mutation_p.S296P|TINAGL1_uc021oko.1_Missense_Mutation_p.S191P	NM_022164	NP_001191344	Q9GZM7	TINAL_HUMAN	Homo sapiens tubulointerstitial nephritis antigen-like 1 (TINAGL1), transcript variant 1, mRNA.	296					endosome transport|immune response|proteolysis	extracellular region	cysteine-type endopeptidase activity|extracellular matrix structural constituent|polysaccharide binding|scavenger receptor activity			breast(2)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		STAD - Stomach adenocarcinoma(196;0.0526)|READ - Rectum adenocarcinoma(331;0.145)		CTACCCCTTCTCGGGCCGTGA	0.652000														67			40		0	0	1	0	0
C2orf16	84226	broad.mit.edu	37	2	27802252	27802252	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:27802252C>A	uc002rkz.4	+	0	2864	c.2813C>A	c.(2812-2814)cCt>cAt	p.P938H		NM_032266	NP_115642	Q68DN1	CB016_HUMAN	Homo sapiens chromosome 2 open reading frame 16 (C2orf16), mRNA.	938										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					CTGATGGAACCTTCCCAGAGC	0.403000														39			5		1.23904e-05	1.3743e-05	1	1	0
CEACAM21	90273	broad.mit.edu	37	19	42083694	42083694	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:42083694A>G	uc002ore.4	+	1	303	c.207A>G	c.(205-207)aaA>aaG	p.K69K	CEACAM21_uc002orc.1_Non-coding_Transcript|CEACAM21_uc002orf.2_Non-coding_Transcript|CEACAM21_uc002org.4_Silent_p.K69K	NM_001098506	NP_001091976	Q3KPI0	CEA21_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 21 (CEACAM21), transcript variant 1, mRNA.	69						integral to membrane				endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	13						GCTGGTACAAAGGGAAAACGG	0.483000														35			4		0	0	1	0	0
CHD9	80205	broad.mit.edu	37	16	53272404	53272404	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:53272404G>A	uc002ehb.3	+	10	2947	c.2783G>A	c.(2782-2784)cGt>cAt	p.R928H	CHD9_uc002egy.3_Missense_Mutation_p.R928H|CHD9_uc002ehc.3_Missense_Mutation_p.R928H|CHD9_uc002ehf.3_Missense_Mutation_p.R42H|CHD9_uc002ehg.2_Missense_Mutation_p.R42H|CHD9_uc002ehd.2_Missense_Mutation_p.R454H|CHD9_uc002ehe.1_Missense_Mutation_p.R42H	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 9 (CHD9), mRNA.	928	Helicase ATP-binding.				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding	p.R928H(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				AGAGAATTTCGTACGTGGACT	0.403000														93			52		0	0	1	0	0
UBR1	197131	broad.mit.edu	37	15	43330062	43330062	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:43330062A>G	uc001zqq.3	-	16	1997	c.1931T>C	c.(1930-1932)gTa>gCa	p.V644A	UBR1_uc010udk.1_Missense_Mutation_p.V644A	NM_174916	NP_777576	Q8IWV7	UBR1_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 1 (UBR1), mRNA.	644					cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		TTCCACTAGTACCTCTACTTG	0.418000														17			9		0	0	1	0	0
PEX5L	51555	broad.mit.edu	37	3	179519707	179519707	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:179519707G>A	uc003fki.1	-	14	1920	c.1790C>T	c.(1789-1791)gCg>gTg	p.A597V	PEX5L_uc011bqd.1_Missense_Mutation_p.A554V|PEX5L_uc011bqe.1_Missense_Mutation_p.A405V|PEX5L_uc011bqf.1_Missense_Mutation_p.A489V|PEX5L_uc003fkj.1_Missense_Mutation_p.A562V|PEX5L_uc010hxd.1_Missense_Mutation_p.A595V|PEX5L_uc011bqg.1_Missense_Mutation_p.A573V|PEX5L_uc011bqh.1_Missense_Mutation_p.A538V	NM_016559	NP_057643	Q8IYB4	PEX5R_HUMAN	Homo sapiens peroxisomal biogenesis factor 5-like (PEX5L), mRNA.	597					protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			CAGAGAGAGCGCAATTCTGAG	0.473000														151			67		0	0	1	0	0
LINC00477	144360	broad.mit.edu	37	12	24736568	24736568	+	RNA	SNP	A	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:24736568A>T	uc001rgb.1	-	0		c.535T>A								Homo sapiens long intergenic non-protein coding RNA 477 (LINC00477), non-coding RNA.																		AAGGAAAAAAAGGGGGCCCAG	0.547000														55			34		0	0	1	0	0
RNF144B	255488	broad.mit.edu	37	6	18459946	18459946	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:18459946G>T	uc003ncs.3	+	5	962	c.645G>T	c.(643-645)aaG>aaT	p.K215N		NM_182757	NP_877434	Q7Z419	R144B_HUMAN	Homo sapiens ring finger protein 144B (RNF144B), mRNA.	215					apoptosis|positive regulation of anti-apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	integral to membrane|mitochondrial membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(7)	11	Ovarian(93;0.00365)|Breast(50;0.0145)	all_hematologic(90;0.0536)	OV - Ovarian serous cystadenocarcinoma(7;0.00165)|all cancers(50;0.0102)|Epithelial(50;0.0105)			AAAACTGCAAGCATACATTTT	0.468000														90			10		0.010729	0.011087	1	1	0
DMXL1	1657	broad.mit.edu	37	5	118556191	118556191	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:118556191G>A	uc010jcl.1	+	35	8219	c.8038G>A	c.(8038-8040)Gct>Act	p.A2680T	DMXL1_uc003ksd.2_Missense_Mutation_p.A2659T|DMXL1_uc021ycw.1_Missense_Mutation_p.A2486T	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN	Homo sapiens Dmx-like 1 (DMXL1), mRNA.	2659										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		CATAGCAATCGCTTCCAGTCA	0.373000														27			18		0	0	1	0	0
EZH1	2145	broad.mit.edu	37	17	40858040	40858040	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:40858040C>A	uc010wgu.2	-	14	1878	c.1842G>T	c.(1840-1842)caG>caT	p.Q614H	EZH1_uc002iaz.3_Missense_Mutation_p.Q608H|EZH1_uc002iba.3_Missense_Mutation_p.Q599H|EZH1_uc010wgt.2_Missense_Mutation_p.Q538H|EZH1_uc010wgv.2_Missense_Mutation_p.Q568H|EZH1_uc010wgw.2_Missense_Mutation_p.Q469H|EZH1_uc010cyp.2_Missense_Mutation_p.Q509H|EZH1_uc010cyq.2_Missense_Mutation_p.Q525H|EZH1_uc010cyo.1_Missense_Mutation_p.Q271H	NM_001991	NP_001982	Q92800	EZH1_HUMAN	Homo sapiens enhancer of zeste homolog 1 (Drosophila) (EZH1), mRNA.	608	SET.				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|chromatin binding			breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	27		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0784)		TAAGTCCACGCTGGATGCTGC	0.542000														7			10		0.000673444	0.000715966	1	1	0
PLEKHG3	26030	broad.mit.edu	37	14	65207966	65207966	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:65207966C>T	uc001xhp.2	+	15	2133	c.2094C>T	c.(2092-2094)agC>agT	p.S698S	PLEKHG3_uc001xhn.1_Silent_p.S521S|PLEKHG3_uc001xho.1_Silent_p.S577S|PLEKHG3_uc010aqh.1_Silent_p.S119S|PLEKHG3_uc001xhq.1_Silent_p.S82S	NM_015549	NP_056364	A1L390	PKHG3_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 3 (PLEKHG3), mRNA.	577					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		CCCTGAGCAGCGAGGAGGAAG	0.617000														78			8		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140718798	140718798	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140718798C>T	uc003ljk.2	+	0	445	c.260C>T	c.(259-261)gCg>gTg	p.A87V	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc011dao.2_Missense_Mutation_p.A87V	NM_018915	NP_061738	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 2 (PCDHGA2), transcript variant 1, mRNA.	87	Cadherin 1.				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)			TTGGTCACTGCGAACAGGATA	0.547000														42			28		0	0	1	0	0
ZNF347	84671	broad.mit.edu	37	19	53645134	53645134	+	Missense_Mutation	SNP	C	T	T	rs142905085		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:53645134C>T	uc002qbc.2	-	4	1377	c.950G>A	c.(949-951)cGt>cAt	p.R317H	ZNF347_uc002qbb.2_Missense_Mutation_p.R316H|ZNF347_uc010eql.2_Missense_Mutation_p.R317H	NM_001172674	NP_001166146	Q96SE7	ZN347_HUMAN	Homo sapiens zinc finger protein 347 (ZNF347), transcript variant 1, mRNA.	316					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		ACATTTGTAACGTTTTTCGCC	0.373000														64			53		0	0	1	0	0
KCNK9	51305	broad.mit.edu	37	8	140631313	140631313	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:140631313C>T	uc003yvf.1	-	1	377	c.313G>A	c.(313-315)Gcg>Acg	p.A105T	KCNK9_uc003yvg.1_Missense_Mutation_p.A105T|KCNK9_uc003yve.1_Non-coding_Transcript	NM_016601	NP_057685	Q9NPC2	KCNK9_HUMAN	Homo sapiens potassium channel, subfamily K, member 9 (KCNK9), mRNA.	105						integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity			NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)			GCCTTGCCCGCATCGGTGCCA	0.607000														17			9		0	0	1	0	0
PCDH20	64881	broad.mit.edu	37	13	61986332	61986332	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:61986332C>T	uc001vid.4	-	1	2264	c.1900G>A	c.(1900-1902)Gac>Aac	p.D634N	PCDH20_uc010thj.2_Missense_Mutation_p.D634N	NM_022843	NP_073754	Q8N6Y1	PCD20_HUMAN	Homo sapiens protocadherin 20 (PCDH20), mRNA.	607	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		GGACTGTTGTCATTTTTATCC	0.438000														49			4		0	0	1	0	0
ILVBL	10994	broad.mit.edu	37	19	15227253	15227253	+	Missense_Mutation	SNP	G	A	A	rs147018373	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:15227253G>A	uc002nam.3	-	10	1388	c.1267C>T	c.(1267-1269)Cgg>Tgg	p.R423W		NM_006844	NP_006835	A1L0T0	ILVBL_HUMAN	Homo sapiens ilvB (bacterial acetolactate synthase)-like (ILVBL), mRNA.	423						integral to membrane	magnesium ion binding|thiamine pyrophosphate binding|transferase activity			NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)	26						TCGGCTTCCCGCAGCTCCTCC	0.647000														49			24		0	0	1	0	0
PAK7	57144	broad.mit.edu	37	20	9525092	9525092	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:9525092G>A	uc002wnl.2	-	8	2338	c.1793C>T	c.(1792-1794)cCg>cTg	p.P598L	PAK7_uc002wnk.2_Missense_Mutation_p.P598L|PAK7_uc002wnj.2_Missense_Mutation_p.P598L|PAK7_uc010gby.1_Intron	NM_020341	NP_817127	Q9P286	PAK7_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 7 (PAK7), transcript variant 1, mRNA.	598	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			TTTCCTCTTCGGCACCTCTTT	0.448000														85			11		0	0	1	0	0
SGPP2	130367	broad.mit.edu	37	2	223423168	223423168	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:223423168G>A	uc010zlo.2	+	4	751	c.751G>A	c.(751-753)Gtg>Atg	p.V251M	SGPP2_uc010zlp.2_Missense_Mutation_p.V123M	NM_152386	NP_689599	Q8IWX5	SGPP2_HUMAN	Homo sapiens sphingosine-1-phosphate phosphatase 2 (SGPP2), mRNA.	251					sphingosine metabolic process	endoplasmic reticulum membrane|integral to membrane	dihydrosphingosine-1-phosphate phosphatase activity|sphingosine-1-phosphate phosphatase activity	p.V251M(2)		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)		CCTCTTCCCCGTGTGTGTCAT	0.587000														56			24		0	0	1	0	0
FCAMR	83953	broad.mit.edu	37	1	207140951	207140951	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:207140951C>T	uc001hfa.4	-	1	585	c.85G>A	c.(85-87)Gct>Act	p.A29T	FCAMR_uc001hfb.3_Missense_Mutation_p.A29T|FCAMR_uc009xca.2_Missense_Mutation_p.A29T|FCAMR_uc021pig.1_5'Flank	NM_001170631	NP_001164102	Q8WWV6	FCAMR_HUMAN	Homo sapiens Fc receptor, IgA, IgM, high affinity (FCAMR), transcript variant 3, mRNA.	328						integral to membrane|plasma membrane	receptor activity			endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(1)	11						aaagtgccagcaatgagcctg	0.443000														173			9		0	0	1	0	0
IL20RA	53832	broad.mit.edu	37	6	137338236	137338236	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:137338236G>T	uc003qhj.3	-	1	526	c.93C>A	c.(91-93)ccC>ccA	p.P31P	IL20RA_uc011edl.2_5'UTR|IL20RA_uc003qhk.3_5'UTR|IL20RA_uc010kgy.1_Non-coding_Transcript	NM_014432	NP_055247	Q9UHF4	I20RA_HUMAN	Homo sapiens interleukin 20 receptor, alpha (IL20RA), mRNA.	31						integral to membrane	receptor activity			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459)		CAGAGACACAGGGAACTGAAA	0.463000														18			12		5.50884e-06	6.15991e-06	1	1	0
MEIS3	56917	broad.mit.edu	37	19	47920151	47920151	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:47920151G>A	uc002pgq.3	-	2	564	c.498C>T	c.(496-498)gaC>gaT	p.D166D	MEIS3_uc002pgp.3_5'Flank|MEIS3_uc002pgr.3_5'UTR|MEIS3_uc002pgs.3_Silent_p.D85D|MEIS3_uc002pgt.3_Silent_p.D85D|MEIS3_uc010eld.3_Silent_p.D85D|MEIS3_uc002pgw.3_3'UTR	NM_001009813	NP_001009813	Q99687	MEIS3_HUMAN	Homo sapiens Meis homeobox 3 (MEIS3), transcript variant 2, mRNA.	85						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(5)|lung(11)|prostate(1)|skin(2)	20		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000198)|OV - Ovarian serous cystadenocarcinoma(262;0.000439)|Epithelial(262;0.0113)|GBM - Glioblastoma multiforme(486;0.0223)		CTCCGGCCCCGTCACGGGGAG	0.617000														8			8		0	0	1	0	0
PDZD3	79849	broad.mit.edu	37	11	119057160	119057160	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:119057160C>T	uc001pwb.3	+	1	813	c.289C>T	c.(289-291)Ctt>Ttt	p.L97F	PDZD3_uc001pvz.3_Intron|PDZD3_uc010rzd.2_Intron|PDZD3_uc001pvy.3_Intron|PDZD3_uc001pwa.3_Intron			Q86UT5	NHRF4_HUMAN	Homo sapiens PDZ domain containing 3 (PDZD3), transcript variant 3, non-coding RNA.	97					cGMP-mediated signaling|ion transport|negative regulation of cGMP biosynthetic process|response to toxin|water transport	apical part of cell|brush border|cytosol|membrane fraction|subapical complex	guanylate cyclase inhibitor activity|ion channel inhibitor activity|protein C-terminus binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	14	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;7.52e-05)		TCTCCTCCCCCTTTTCTGCTG	0.602000														30			16		0	0	1	0	0
ABCA2	20	broad.mit.edu	37	9	139910430	139910430	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:139910430G>A	uc004ckm.1	-	21	3438	c.3388C>T	c.(3388-3390)Cgc>Tgc	p.R1130C	ABCA2_uc022bpy.1_Missense_Mutation_p.R1031C|ABCA2_uc022bpz.1_Missense_Mutation_p.R1101C|ABCA2_uc011mem.1_Missense_Mutation_p.R1100C|ABCA2_uc004ckl.1_Missense_Mutation_p.R1031C|ABCA2_uc004ckn.1_Non-coding_Transcript	NM_212533	NP_997698	Q9BZC7	ABCA2_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 2 (ABCA2), transcript variant 2, mRNA.	1100	ABC transporter 1.				cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		ATCTCTCTGCGGATCTCCTCC	0.662000														14			15		0	0	1	0	0
CDC23	8697	broad.mit.edu	37	5	137536863	137536863	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:137536863G>T	uc003lcl.3	-	5	618	c.587C>A	c.(586-588)aCt>aAt	p.T196N		NM_004661	NP_004652	Q9UJX2	CDC23_HUMAN	Homo sapiens cell division cycle 23 homolog (S. cerevisiae) (CDC23), mRNA.	196					G1 phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase plate congression|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of exit from mitosis	anaphase-promoting complex|cytosol|nucleoplasm	binding|ubiquitin-protein ligase activity			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(6)|prostate(2)|skin(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			CAAAACATGAGTAGCTTCCAC	0.418000														43			33		9.17885e-22	1.18973e-21	1	1	0
SMARCA4	6597	broad.mit.edu	37	19	11098592	11098592	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:11098592C>T	uc010dxp.3	+	6	1470	c.1110C>T	c.(1108-1110)cgC>cgT	p.R370R	SMARCA4_uc010dxo.3_Silent_p.R370R|SMARCA4_uc002mqf.4_Silent_p.R370R|SMARCA4_uc002mqg.1_Silent_p.R370R|SMARCA4_uc010dxq.3_Silent_p.R370R|SMARCA4_uc010dxr.3_Silent_p.R370R|SMARCA4_uc002mqj.4_Silent_p.R370R|SMARCA4_uc010dxs.3_Silent_p.R370R|SMARCA4_uc002mqe.2_Silent_p.R370R	NM_001128844	NP_003063	P51532	SMCA4_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 (SMARCA4), transcript variant 2, mRNA.	370					chromatin remodeling|negative regulation of S phase of mitotic cell cycle|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex|WINAC complex|nBAF complex|npBAF complex|nuclear chromatin	ATP binding|DNA binding|DNA-dependent ATPase activity|androgen receptor binding|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				TGCAGGAGCGCGAGTACAGGT	0.662000			"""F, N, Mis"""		NSCLC									4			10		0	0	1	0	0
GRIK5	2901	broad.mit.edu	37	19	42557982	42557982	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:42557982G>A	uc002osj.1	-	8	1191	c.1156C>T	c.(1156-1158)Cgt>Tgt	p.R386C	GRIK5_uc010eib.1_Missense_Mutation_p.R305C	NM_002088	NP_002079	Q16478	GRIK5_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 5 (GRIK5), mRNA.	386						cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)			L-Glutamic Acid(DB00142)	CTCACCTCACGGTGGCCCTGC	0.647000														17			6		0	0	1	0	0
HSFY1P1	27437	broad.mit.edu	37	22	17308627	17308627	+	RNA	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:17308627C>A	uc010gqr.1	+	0		c.264C>A								Homo sapiens heat shock transcription factor, Y-linked 1 pseudogene 1 (HSFY1P1), non-coding RNA.																		CCACATTATACTTTATGTCTC	0.368000														12			4		0.150653	0.152248	1	1	0
ITSN1	6453	broad.mit.edu	37	21	35208937	35208937	+	Splice_Site	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:35208937G>A	uc002yta.1	+	29	3929	c.3661_splice	c.e29+1	p.W1221_splice	DONSON_uc002ysn.1_Intron|ITSN1_uc010gmj.3_Splice_Site_p.*1100_splice|ITSN1_uc002ysy.3_Splice_Site_p.*1216_splice|ITSN1_uc002ysx.3_Splice_Site_p.*1179_splice|ITSN1_uc002yth.4_Splice_Site|ITSN1_uc002ysz.3_Splice_Site_p.*1145_splice|ITSN1_uc010gmg.3_Splice_Site_p.*1108_splice|ITSN1_uc010gmh.3_Splice_Site|ITSN1_uc002ysw.3_Splice_Site_p.*1221_splice|ITSN1_uc010gmi.3_Splice_Site_p.*1184_splice|ITSN1_uc002ytb.1_Splice_Site_p.W1216_splice|ITSN1_uc010gmk.3_Splice_Site_p.*1113_splice|ITSN1_uc010gml.3_Splice_Site|ITSN1_uc002ytd.3_Splice_Site|ITSN1_uc002ytj.2_Splice_Site_p.W1216_splice|ITSN1_uc010gmm.1_Splice_Site|ITSN1_uc002yte.3_Splice_Site_p.*1084_splice|ITSN1_uc021wip.1_Splice_Site_p.*1039_splice|ITSN1_uc002yti.1_Splice_Site	NM_003024	NP_003015	Q15811	ITSN1_HUMAN	Homo sapiens intersectin 1 (SH3 domain protein) (ITSN1), transcript variant 1, mRNA.	1221					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	Rho guanyl-nucleotide exchange factor activity|calcium ion binding|proline-rich region binding|protein complex scaffold			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						AGCCAGCAATGTAAGTGCCCT	0.507000														41			16		0	0	1	0	0
TNS3	64759	broad.mit.edu	37	7	47384355	47384355	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:47384355C>T	uc003tnw.3	-	19	3006	c.2648G>A	c.(2647-2649)cGt>cAt	p.R883H	TNS3_uc022acn.1_Missense_Mutation_p.R440H	NM_022748	NP_073585	Q68CZ2	TENS3_HUMAN	Homo sapiens tensin 3 (TNS3), mRNA.	883						focal adhesion	protein binding			NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						TTTCTTACCACGTCCTCCTTT	0.582000														36			36		0	0	1	0	0
CYLD	1540	broad.mit.edu	37	16	50813864	50813864	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:50813864C>T	uc021tib.1	+	6	1550	c.1427C>T	c.(1426-1428)gCt>gTt	p.A476V	CYLD_uc002ego.3_Missense_Mutation_p.A473V|CYLD_uc010cbs.1_Missense_Mutation_p.A473V|CYLD_uc002egp.1_Missense_Mutation_p.A473V|CYLD_uc002egq.1_Missense_Mutation_p.A473V|CYLD_uc002egr.1_Missense_Mutation_p.A473V|CYLD_uc002egs.1_Missense_Mutation_p.A473V	NM_015247	NP_056062	Q9NQC7	CYLD_HUMAN	Homo sapiens cylindromatosis (turban tumor syndrome) (CYLD), transcript variant 1, mRNA.	476	Interaction with IKBKG/NEMO.|Interaction with TRIP.				Wnt receptor signaling pathway|cell cycle|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process	cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome	proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62		all_cancers(37;0.0156)				GGCTCATTGGCTGAAGTTAAG	0.512000			"""Mis, N, F, S"""		cylindroma	cylindroma			Multiple Trichoepithelioma, Familial;Familial Cylindromatosis					38			26		0	0	1	0	0
ITGA2	3673	broad.mit.edu	37	5	52379220	52379220	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:52379220T>C	uc003joy.3	+	26	3338	c.3195T>C	c.(3193-3195)gtT>gtC	p.V1065V	ITGA2_uc011cqa.2_Non-coding_Transcript|ITGA2_uc011cqb.2_Non-coding_Transcript|ITGA2_uc011cqc.2_Silent_p.V989V|ITGA2_uc011cqd.2_Non-coding_Transcript|ITGA2_uc011cqe.2_Non-coding_Transcript	NM_002203	NP_002194	P17301	ITA2_HUMAN	Homo sapiens integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor) (ITGA2), mRNA.	1065					axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				TGAAAGACGTTCACATGAAAG	0.358000														29			18		0	0	1	0	0
KDM3B	51780	broad.mit.edu	37	5	137721803	137721803	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:137721803G>A	uc003lcy.1	+	6	1073	c.873G>A	c.(871-873)tcG>tcA	p.S291S	KDM3B_uc010jew.1_5'UTR|KDM3B_uc011cys.1_5'Flank	NM_016604	NP_057688	Q7LBC6	KDM3B_HUMAN	Homo sapiens lysine (K)-specific demethylase 3B (KDM3B), mRNA.	291					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						AAAGTGCTTCGGACTCTGGGT	0.493000														45			24		0	0	1	0	0
SPEG	10290	broad.mit.edu	37	2	220338574	220338574	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:220338574G>A	uc010fwg.3	+	17	4396	c.4396G>A	c.(4396-4398)Gcc>Acc	p.A1466T		NM_005876	NP_005867	Q15772	SPEG_HUMAN	Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA.	1466	Ig-like 7.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CACCTGCACCGCCCGAAACCG	0.647000														87			8		0	0	1	0	0
NOTCH3	4854	broad.mit.edu	37	19	15291940	15291940	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:15291940G>A	uc002nan.3	-	17	2902	c.2826C>T	c.(2824-2826)ggC>ggT	p.G942G	NOTCH3_uc002nao.1_Silent_p.G890G	NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	Homo sapiens notch 3 (NOTCH3), mRNA.	942	EGF-like 24.				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			acgagttcacgccgtccacac	0.677000														5			6		0	0	1	0	0
PRRC2B	84726	broad.mit.edu	37	9	134351859	134351859	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:134351859G>T	uc004can.4	+	14	4398	c.4343G>T	c.(4342-4344)gGt>gTt	p.G1448V	PRRC2B_uc010mzj.1_Missense_Mutation_p.G1031V|PRRC2B_uc004cao.4_Missense_Mutation_p.G806V	NM_013318	NP_037450	Q5JSZ5	PRC2B_HUMAN	Homo sapiens proline-rich coiled-coil 2B (PRRC2B), mRNA.	1448							protein binding			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						GTTAGGCCAGGTGGTGGTGAC	0.562000											OREG0019561	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		15			4		0.00909568	0.00940365	1	1	0
SVEP1	79987	broad.mit.edu	37	9	113168817	113168817	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:113168817A>C	uc010mtz.3	-	37	9400	c.9063T>G	c.(9061-9063)gaT>gaG	p.D3021E	SVEP1_uc010mty.3_Missense_Mutation_p.D947E	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	3021	Sushi 27.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CACAGTCAAAATCTGTCCCAT	0.522000														13			11		0	0	1	0	0
OR5B2	390190	broad.mit.edu	37	11	58190027	58190027	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:58190027C>T	uc010rkg.2	-	0	760	c.708G>A	c.(706-708)ttG>ttA	p.L236L		NM_001005566	NP_001005566	Q96R09	OR5B2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily B, member 2 (OR5B2), mRNA.	236					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				CACAGGTGGACAATGCTTTTT	0.428000														66			6		0	0	1	0	0
OR1K1	392392	broad.mit.edu	37	9	125563230	125563230	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:125563230G>A	uc011lze.2	+	0	829	c.829G>A	c.(829-831)Gtc>Atc	p.V277I		NM_080859	NP_543135	Q8NGR3	OR1K1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily K, member 1 (OR1K1), mRNA.	277					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(8)|lung(2)|ovary(1)|skin(4)|stomach(1)	17						TGTGGCCACTGTCATGTACAC	0.592000														44			40		0	0	1	0	0
AFF1	4299	broad.mit.edu	37	4	88036378	88036378	+	Missense_Mutation	SNP	C	T	T	rs142319329		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:88036378C>T	uc011ccz.2	+	11	2668	c.2393C>T	c.(2392-2394)cCg>cTg	p.P798L	AFF1_uc003hqj.4_Missense_Mutation_p.P791L|AFF1_uc003hqk.4_Missense_Mutation_p.P791L|AFF1_uc011cda.2_Missense_Mutation_p.P429L	NM_001166693	NP_001160165	P51825	AFF1_HUMAN	Homo sapiens AF4/FMR2 family, member 1 (AFF1), transcript variant 1, mRNA.	791						nucleus	sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		GATAAACAGCCGCCCGCAGGG	0.567000														8			11		0	0	1	0	0
KLF8	11279	broad.mit.edu	37	X	56291821	56291821	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:56291821C>A	uc004dur.3	+	2	1236	c.290C>A	c.(289-291)cCt>cAt	p.P97H	KLF8_uc010nkg.2_Missense_Mutation_p.P92H|KLF8_uc011mop.2_Missense_Mutation_p.P97H|KLF8_uc010nkh.3_Non-coding_Transcript	NM_007250	NP_009181	O95600	KLF8_HUMAN	Homo sapiens Kruppel-like factor 8 (KLF8), transcript variant 1, mRNA.	97					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(4)|large_intestine(6)|lung(5)|ovary(1)	16						CCCAAGGCTCCTCTCCAGCCT	0.532000														32			4		0.150653	0.152248	1	1	0
TUBB3	10381	broad.mit.edu	37	16	89985956	89985956	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:89985956T>C	uc002fpf.2	+	0	698	c.290T>C	c.(289-291)gTc>gCc	p.V97A	TUBB3_uc002fpe.4_Missense_Mutation_p.V97A|TUBB3_uc010ciz.1_5'Flank	NM_006086	NP_006077	Q13509	TBB3_HUMAN	Homo sapiens tubulin, beta 3 class III (TUBB3), transcript variant 1, mRNA.	0					'de novo' posttranslational protein folding|axon guidance|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	p.G96G(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		GAGACGGCCGTCATCCTCCTG	0.632000														38			4		0	0	1	0	0
MOXD1	26002	broad.mit.edu	37	6	132695805	132695805	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:132695805G>T	uc003qdf.3	-	1	475	c.376C>A	c.(376-378)Ctg>Atg	p.L126M	MOXD1_uc003qde.3_Missense_Mutation_p.L58M	NM_015529	NP_056344	Q6UVY6	MOXD1_HUMAN	Homo sapiens monooxygenase, DBH-like 1 (MOXD1), transcript variant 2, mRNA.	126	DOMON.				catecholamine metabolic process	endoplasmic reticulum membrane|integral to membrane	copper ion binding|dopamine beta-monooxygenase activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1)	37	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)		CATGTATGCAGCTCTCTGGTA	0.343000														68			25		2.14196e-07	2.46881e-07	1	1	0
ZBTB11	27107	broad.mit.edu	37	3	101383909	101383909	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:101383909G>A	uc003dve.4	-	3	1752	c.1522C>T	c.(1522-1524)Cga>Tga	p.R508*		NM_014415	NP_055230	O95625	ZBT11_HUMAN	Homo sapiens zinc finger and BTB domain containing 11 (ZBTB11), mRNA.	508					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						GAACGTTGTCGAAGCCTGCTT	0.428000														124			64		0	0	1	0	0
ENGASE	64772	broad.mit.edu	37	17	77080732	77080732	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:77080732G>A	uc002jwv.3	+	10	1563	c.1555G>A	c.(1555-1557)Ggc>Agc	p.G519S	ENGASE_uc002jww.3_Missense_Mutation_p.G225S	NM_001042573	NP_001036038	Q8NFI3	ENASE_HUMAN	Homo sapiens endo-beta-N-acetylglucosaminidase (ENGASE), mRNA.	519						cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity			breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						AGGGGATGCCGGCAGCTGCCA	0.612000														46			34		0	0	1	0	0
DHX34	9704	broad.mit.edu	37	19	47879311	47879311	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:47879311C>T	uc010xyn.2	+	10	2787	c.2438C>T	c.(2437-2439)gCc>gTc	p.A813V	DHX34_uc010xyo.1_5'Flank	NM_014681	NP_055496	Q14147	DHX34_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 34 (DHX34), mRNA.	813						intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		CCACAGCTGGCCGTCCCCGAC	0.657000														25			13		0	0	1	0	0
APOBEC3D	140564	broad.mit.edu	37	22	39421574	39421574	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:39421574G>A	uc003awt.4	+	3	910	c.503G>A	c.(502-504)tGc>tAc	p.C168Y	APOBEC3D_uc021wpq.1_Missense_Mutation_p.C237Y|APOBEC3D_uc010gxu.3_Intron|APOBEC3D_uc003awu.4_Intron	NM_152426	NP_689639	Q96AK3	ABC3D_HUMAN	Homo sapiens apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D (APOBEC3D), mRNA.	168					negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)	11	Melanoma(58;0.04)					TTTGCATACTGCTGGGAAAAC	0.527000														165			12		0	0	1	0	0
BCL2L10	10017	broad.mit.edu	37	15	52402056	52402056	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:52402056G>A	uc002abq.3	-	1	653	c.604C>T	c.(604-606)Cga>Tga	p.R202*		NM_020396	NP_065129	Q9HD36	B2L10_HUMAN	Homo sapiens BCL2-like 10 (apoptosis facilitator) (BCL2L10), mRNA.	192					activation of caspase activity|anti-apoptosis|female gamete generation|spermatogenesis	cytosol|integral to membrane|membrane fraction|mitochondrion|nuclear membrane	protein binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	2				all cancers(107;0.0148)		CATAATAATCGTGTCCAGAGA	0.433000														151			102		0	0	1	0	0
LGI3	203190	broad.mit.edu	37	8	22011708	22011708	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:22011708G>A	uc003xav.3	-	3	658	c.369C>T	c.(367-369)gaC>gaT	p.D123D	LGI3_uc010ltu.3_Intron	NM_139278	NP_644807	Q8N145	LGI3_HUMAN	Homo sapiens leucine-rich repeat LGI family, member 3 (LGI3), mRNA.	123					exocytosis	cell junction|extracellular region|synaptic vesicle|synaptosome				endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	17				Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999)		GTGCCCAGATGTCATTGTTCT	0.557000														41			20		0	0	1	0	0
RAPGEF1	2889	broad.mit.edu	37	9	134497224	134497224	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:134497224G>T	uc022bos.1	-	10	2026	c.1867C>A	c.(1867-1869)Ctg>Atg	p.L623M	RAPGEF1_uc022bot.1_Missense_Mutation_p.L605M|RAPGEF1_uc010mzm.3_Non-coding_Transcript|RAPGEF1_uc022bou.1_Missense_Mutation_p.L610M|RAPGEF1_uc022bov.1_Missense_Mutation_p.L610M|RAPGEF1_uc010mzr.1_Missense_Mutation_p.L51M|RAPGEF1_uc010mzq.1_Missense_Mutation_p.L51M|RAPGEF1_uc010mzs.1_Missense_Mutation_p.L51M|RAPGEF1_uc010mzl.1_Missense_Mutation_p.L51M|RAPGEF1_uc010mzo.1_Missense_Mutation_p.L51M|RAPGEF1_uc010mzp.1_Missense_Mutation_p.L51M	NM_198679	NP_941372	Q13905	RPGF1_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 1 (RAPGEF1), transcript variant 2, mRNA.	605					activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome	SH3 domain binding|guanyl-nucleotide exchange factor activity			NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		GGCGGGGCCAGCTCCTGCACG	0.602000														11			6		2.0095e-06	2.27092e-06	1	1	0
MYT1L	23040	broad.mit.edu	37	2	1795747	1795747	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:1795747G>A	uc002qxe.3	-	24	4280	c.3453C>T	c.(3451-3453)taC>taT	p.Y1151Y	MYT1L_uc002qxd.3_Silent_p.Y1149Y|MYT1L_uc010ewk.3_Silent_p.Y149Y	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	Homo sapiens myelin transcription factor 1-like (MYT1L), mRNA.	1151					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		AAGTAGTCACGTAAGCATCAA	0.308000														13			11		0	0	1	0	0
RGS12	6002	broad.mit.edu	37	4	3432328	3432328	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:3432328G>A	uc003ggw.3	+	16	4664	c.3760G>A	c.(3760-3762)Gcc>Acc	p.A1254T	RGS12_uc003ggv.3_Missense_Mutation_p.A1254T|RGS12_uc003ggy.1_3'UTR|RGS12_uc003ggz.3_Missense_Mutation_p.A606T|RGS12_uc011bvs.2_3'UTR|RGS12_uc003gha.3_Missense_Mutation_p.A596T|RGS12_uc010icv.3_Missense_Mutation_p.A453T	NM_198229	NP_937872	O14924	RGS12_HUMAN	Homo sapiens regulator of G-protein signaling 12 (RGS12), transcript variant 1, mRNA.	1254						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CCGGGAGAGCGCCTCCCAGCC	0.677000														5			7		0	0	1	0	0
PRR14	78994	broad.mit.edu	37	16	30666150	30666150	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:30666150G>A	uc002dyy.3	+	7	1117	c.859G>A	c.(859-861)Gcc>Acc	p.A287T	PRR14_uc002dyz.3_Missense_Mutation_p.A132T|PRR14_uc002dza.3_Missense_Mutation_p.A287T|PRR14_uc002dzb.1_Missense_Mutation_p.A101T	NM_024031	NP_076936	Q9BWN1	PRR14_HUMAN	Homo sapiens proline rich 14 (PRR14), mRNA.	287	Pro-rich.									breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	18			Colorectal(24;0.103)			GTTGAAGATCGCCATCTCAGA	0.637000														12			11		0	0	1	0	0
SLC9A2	6549	broad.mit.edu	37	2	103300674	103300674	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:103300674G>A	uc002tca.3	+	4	1446	c.1304G>A	c.(1303-1305)gGa>gAa	p.G435E		NM_003048	NP_003039	Q9UBY0	SL9A2_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 2 (SLC9A2), mRNA.	435						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						ATTGCCTATGGAGGACTTCGA	0.448000														95			45		0	0	1	0	0
NCAPD3	23310	broad.mit.edu	37	11	134023044	134023044	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:134023044G>T	uc001qhd.1	-	33	4985	c.4379C>A	c.(4378-4380)cCt>cAt	p.P1460H	NCAPD3_uc010scm.1_Non-coding_Transcript|NCAPD3_uc009zda.1_Non-coding_Transcript	NM_015261	NP_056076	P42695	CNDD3_HUMAN	Homo sapiens non-SMC condensin II complex, subunit D3 (NCAPD3), mRNA.	1460					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		CGGTTTATCAGGCAGTGATAA	0.433000														160			15		3.27435e-08	3.82583e-08	1	1	0
ZNF836	162962	broad.mit.edu	37	19	52660166	52660166	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:52660166C>T	uc010ydj.2	-	4	1292	c.770G>A	c.(769-771)cGg>cAg	p.R257Q	ZNF836_uc010ydi.2_Missense_Mutation_p.R257Q	NM_001102657	NP_001096127	Q6ZNA1	ZN836_HUMAN	Homo sapiens zinc finger protein 836 (ZNF836), mRNA.	257					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						TAGTGAGCCCCGATGAAAGGC	0.403000														25			19		0	0	1	0	0
GPR21	2844	broad.mit.edu	37	9	125797635	125797635	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:125797635C>A	uc011lzk.2	+	0	790	c.790C>A	c.(790-792)Ctc>Atc	p.L264I	RABGAP1_uc004bnl.4_Intron|RABGAP1_uc011lzh.2_Intron|RABGAP1_uc011lzj.2_Intron|GPR21_uc011lzi.2_Non-coding_Transcript	NM_005294	NP_005285	Q99679	GPR21_HUMAN	Homo sapiens G protein-coupled receptor 21 (GPR21), mRNA.	264						integral to plasma membrane	G-protein coupled receptor activity			endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	15						ATTTTACATCCTCTGGTTGCC	0.507000														81			35		2.19358e-23	2.85789e-23	1	1	0
NUDC	10726	broad.mit.edu	37	1	27269155	27269155	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:27269155C>T	uc001bng.1	+	4	550	c.434C>T	c.(433-435)aCt>aTt	p.T145I	BC016143_uc021ojq.1_Intron	NM_006600	NP_006591	Q9Y266	NUDC_HUMAN	Homo sapiens nuclear distribution gene C homolog (A. nidulans) (NUDC), mRNA.	145					cell proliferation|cytokinesis|mitotic prometaphase|multicellular organismal development	cytosol|microtubule|nucleoplasm	protein binding			cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|ovary(1)	8				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;6.1e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.87e-29)|Colorectal(126;5.74e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000281)|STAD - Stomach adenocarcinoma(196;0.000604)|KIRC - Kidney renal clear cell carcinoma(1967;0.000739)|READ - Rectum adenocarcinoma(331;0.0421)		AAGCAGGATACTGAGGAAGAT	0.532000														39			25		0	0	1	0	0
TMEM184C	55751	broad.mit.edu	37	4	148555495	148555495	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:148555495T>C	uc003ila.4	+	9	1796	c.1227T>C	c.(1225-1227)acT>acC	p.T409T		NM_018241	NP_060711	Q9NVA4	T184C_HUMAN	Homo sapiens transmembrane protein 184C (TMEM184C), mRNA.	409						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(2)|prostate(1)	16						CTCCCCAGACTACACCTACCA	0.423000														73			14		0	0	1	0	0
C10orf12	26148	broad.mit.edu	37	10	98741938	98741938	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:98741938C>A	uc001kmv.3	+	0	898	c.791C>A	c.(790-792)tCt>tAt	p.S264Y	C10orf12_uc009xvg.2_Missense_Mutation_p.S574Y	NM_015652	NP_056467	Q8N655	CJ012_HUMAN	Homo sapiens chromosome 10 open reading frame 12 (C10orf12), mRNA.	264										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		GAAATCACCTCTCACGAGGAA	0.512000														53			27		5.45727e-16	6.89772e-16	1	1	0
ATP2A2	488	broad.mit.edu	37	12	110780139	110780139	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:110780139C>T	uc001tqk.4	+	14	2767	c.2204C>T	c.(2203-2205)gCg>gTg	p.A735V	ATP2A2_uc001tql.4_Missense_Mutation_p.A735V|ATP2A2_uc021rdt.1_Missense_Mutation_p.A583V	NM_170665	NP_733765	P16615	AT2A2_HUMAN	Homo sapiens ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 (ATP2A2), transcript variant b, mRNA.	735					ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|S100 alpha binding|calcium-transporting ATPase activity|protein C-terminus binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						ATGGTCCTGGCGGATGACAAC	0.552000														32			22		0	0	1	0	0
GPR143	4935	broad.mit.edu	37	X	9727379	9727379	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:9727379C>T	uc004cst.2	-	2	596	c.448G>A	c.(448-450)Gga>Aga	p.G150R		NM_000273	NP_000264	P51810	GP143_HUMAN	Homo sapiens G protein-coupled receptor 143 (GPR143), mRNA.	150					calcium-mediated signaling using intracellular calcium source|eye pigment biosynthetic process|melanosome organization|melanosome transport|phosphatidylinositol-mediated signaling|regulation of calcium-mediated signaling|visual perception	Golgi apparatus|apical plasma membrane|integral to membrane|lysosomal membrane|melanosome membrane|membrane fraction	L-DOPA receptor activity|dopamine binding|protein binding|tyrosine binding			endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15		Hepatocellular(5;0.000888)				TACCTCAGTCCTGCCGATCTC	0.468000														1			4		0	0	1	0	0
C12orf29	91298	broad.mit.edu	37	12	88433974	88433974	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:88433974C>T	uc001tao.3	+	1	298	c.140C>T	c.(139-141)gCa>gTa	p.A47V	C12orf29_uc001tap.3_Intron|C12orf29_uc009zsk.3_Intron	NM_001009894	NP_001009894	Q8N999	CL029_HUMAN	Homo sapiens chromosome 12 open reading frame 29 (C12orf29), mRNA.	47										large_intestine(3)|lung(1)|ovary(1)	5						GCATTAGATGCAGATATATAC	0.313000														82			6		0	0	1	0	0
PTX4	390667	broad.mit.edu	37	16	1537523	1537523	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:1537523T>C	uc010uvf.2	-	1	575	c.575A>G	c.(574-576)gAg>gGg	p.E192G		NM_001013658	NP_001013680	Q96A99	PTX4_HUMAN	Homo sapiens pentraxin 4, long (PTX4), mRNA.	197						extracellular region	metal ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						GCCCAGCTCCTCAGGCTGGGT	0.731000														10			10		0	0	1	0	0
RECQL	5965	broad.mit.edu	37	12	21643136	21643136	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:21643136C>A	uc001rex.3	-	4	739	c.391G>T	c.(391-393)Gat>Tat	p.D131Y	RECQL_uc001rey.3_Missense_Mutation_p.D131Y	NM_032941	NP_116559	P46063	RECQ1_HUMAN	Homo sapiens RecQ protein-like (DNA helicase Q1-like) (RECQL), transcript variant 2, mRNA.	131	Helicase ATP-binding.				DNA recombination|DNA repair|DNA replication	nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|DNA strand annealing activity|protein binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17						TACATACCATCTGAACATAAT	0.294000								Other identified genes with known or suspected DNA repair function						72			6		0.0215528	0.0220531	1	1	0
MC4R	4160	broad.mit.edu	37	18	58039503	58039503	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:58039503G>A	uc002lie.1	-	0	499	c.80C>T	c.(79-81)gCc>gTc	p.A27V		NM_005912	NP_005903	P32245	MC4R_HUMAN	Homo sapiens melanocortin 4 receptor (MC4R), mRNA.	27					G-protein signaling, coupled to cAMP nucleotide second messenger|feeding behavior|positive regulation of bone resorption|positive regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|ubiquitin protein ligase binding			endometrium(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	17		Colorectal(73;0.0946)				GGACTCACTGGCATTGCTGTG	0.532000														33			19		0	0	1	0	0
CLN5	1203	broad.mit.edu	37	13	77569213	77569213	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:77569213T>C	uc001vkc.3	+	1	364	c.336T>C	c.(334-336)cgT>cgC	p.R112R		NM_006493	NP_006484	O75503	CLN5_HUMAN	Homo sapiens ceroid-lipofuscinosis, neuronal 5 (CLN5), mRNA.	63					brain development|cell death|lysosomal lumen acidification|neuron maturation|protein catabolic process	Golgi apparatus|endoplasmic reticulum|integral to membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	16		Acute lymphoblastic leukemia(28;0.205)		GBM - Glioblastoma multiforme(99;0.0503)		TTGACTTCCGTCCAAAACCTG	0.363000														85			12		0	0	1	0	0
IQCD	115811	broad.mit.edu	37	12	113645772	113645772	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:113645772G>A	uc001tuu.3	-	1	372	c.200C>T	c.(199-201)aCc>aTc	p.T67I		NM_138451	NP_612460	Q96DY2	IQCD_HUMAN	Homo sapiens IQ motif containing D (IQCD), mRNA.	67										endometrium(2)|large_intestine(4)|lung(1)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						CGACAGCAAGGTCACCAGCTC	0.537000														94			53		0	0	1	0	0
APPL1	26060	broad.mit.edu	37	3	57293919	57293919	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:57293919G>T	uc003dio.3	+	16	1677	c.1530G>T	c.(1528-1530)atG>atT	p.M510I	APPL1_uc010hnb.3_Missense_Mutation_p.M510I|APPL1_uc011bey.1_Missense_Mutation_p.M493I	NM_012096	NP_036228	Q9UKG1	DP13A_HUMAN	Homo sapiens adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1 (APPL1), mRNA.	510	PID.				apoptosis|cell cycle|cell proliferation|insulin receptor signaling pathway|regulation of apoptosis|regulation of establishment of protein localization in plasma membrane|regulation of glucose import	cytosol|early endosome membrane|microsome|nucleus|vesicle membrane	protein kinase B binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(10)|liver(2)|lung(4)|prostate(2)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)		TTGGTTCAATGGAGGTGAAAT	0.348000														35			5		2.0095e-06	2.27092e-06	1	1	0
NUP153	9972	broad.mit.edu	37	6	17688630	17688630	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:17688630C>T	uc003ncd.1	-	1	531	c.331G>A	c.(331-333)Gaa>Aaa	p.E111K	NUP153_uc011dje.1_Missense_Mutation_p.E111K|NUP153_uc010jpl.1_Missense_Mutation_p.E111K	NM_005124	NP_005115	P49790	NU153_HUMAN	Homo sapiens nucleoporin 153kDa (NUP153), mRNA.	111					carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			TACTTACCTTCTGTATTACTG	0.393000														35			24		0	0	1	0	0
MTA3	57504	broad.mit.edu	37	2	42871382	42871382	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:42871382A>G	uc002rso.1	+	6	999	c.329A>G	c.(328-330)gAa>gGa	p.E110G	MTA3_uc002rsp.1_Missense_Mutation_p.E110G|MTA3_uc002rsq.3_Missense_Mutation_p.E166G	NM_020744	NP_065795	Q9BTC8	MTA3_HUMAN	Homo sapiens metastasis associated 1 family, member 3 (MTA3), mRNA.	166	BAH.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|large_intestine(2)|lung(9)|ovary(2)|stomach(1)	15						ATGCTGTTAGAAGGTACGTTT	0.388000														41			5		0	0	1	0	0
VDAC3	7419	broad.mit.edu	37	8	42260974	42260974	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:42260974C>A	uc022aul.1	+	6	702	c.700C>A	c.(700-702)Ctc>Atc	p.L234I	VDAC3_uc003xpc.3_Missense_Mutation_p.L233I|VDAC3_uc011lct.2_Missense_Mutation_p.L233I	NM_001135694	NP_001129166	Q9Y277	VDAC3_HUMAN	Homo sapiens voltage-dependent anion channel 3 (VDAC3), transcript variant 2, mRNA.	233					adenine transport	mitochondrial outer membrane|pore complex	nucleotide binding|porin activity|protein binding|voltage-gated anion channel activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	7	all_cancers(6;3.86e-23)|all_lung(13;6.47e-12)|Lung NSC(13;1.08e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;3.48e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00266)|Lung(22;0.00849)|LUSC - Lung squamous cell carcinoma(45;0.024)		Dihydroxyaluminium(DB01375)	TAGAACTTCTCTCTCTGTAAG	0.398000														34			20		8.34094e-07	9.49533e-07	1	1	0
APPL1	26060	broad.mit.edu	37	3	57274504	57274504	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:57274504T>C	uc003dio.3	+	4	444	c.297T>C	c.(295-297)tgT>tgC	p.C99C	APPL1_uc010hnb.3_Silent_p.C99C|APPL1_uc011bey.1_Silent_p.C82C	NM_012096	NP_036228	Q9UKG1	DP13A_HUMAN	Homo sapiens adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1 (APPL1), mRNA.	99	Required for RAB5A binding.				apoptosis|cell cycle|cell proliferation|insulin receptor signaling pathway|regulation of apoptosis|regulation of establishment of protein localization in plasma membrane|regulation of glucose import	cytosol|early endosome membrane|microsome|nucleus|vesicle membrane	protein kinase B binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(10)|liver(2)|lung(4)|prostate(2)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)		TTAGCTCTTGTCATGCAGTGC	0.343000														53			42		0	0	1	0	0
LRRIQ4	344657	broad.mit.edu	37	3	169540252	169540252	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:169540252C>T	uc003fgb.3	+	0	543	c.543C>T	c.(541-543)ccC>ccT	p.P181P		NM_001080460	NP_001073929	A6NIV6	LRIQ4_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 4 (LRRIQ4), mRNA.	181										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						AAGTTTTCCCCCAGGAGCTCT	0.512000														69			6		0	0	1	0	0
USP33	23032	broad.mit.edu	37	1	78180376	78180376	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:78180376C>T	uc001dht.3	-	19	2578	c.2231G>A	c.(2230-2232)cGa>cAa	p.R744Q	USP33_uc001dhs.3_Missense_Mutation_p.R465Q|USP33_uc001dhu.3_Missense_Mutation_p.R713Q|USP33_uc001dhv.3_Missense_Mutation_p.R549Q|USP33_uc001dhw.3_Missense_Mutation_p.R736Q	NM_015017	NP_963918	Q8TEY7	UBP33_HUMAN	Homo sapiens ubiquitin specific peptidase 33 (USP33), transcript variant 1, mRNA.	744	DUSP 1.				axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	VCB complex|perinuclear region of cytoplasm	G-protein-coupled receptor binding|cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						AAGCCACTGTCGAGAAATATA	0.373000														86			37		0	0	1	0	0
LONP1	9361	broad.mit.edu	37	19	5700881	5700881	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:5700881G>A	uc002mcx.3	-	8	1458	c.1425C>T	c.(1423-1425)aaC>aaT	p.N475N	LONP1_uc002mcy.3_Silent_p.N411N|LONP1_uc010duh.3_Silent_p.N216N|LONP1_uc010dui.3_Silent_p.N459N|LONP1_uc002mcz.3_Silent_p.N279N	NM_004793	NP_004784	P36776	LONM_HUMAN	Homo sapiens lon peptidase 1, mitochondrial (LONP1), nuclear gene encoding mitochondrial protein, mRNA.	475					cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia	mitochondrial nucleoid	ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CCAGGTTCTCGTTGCTGTACT	0.607000														70			39		0	0	1	0	0
DYNC2H1	79659	broad.mit.edu	37	11	103041675	103041675	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:103041675G>A	uc001phn.1	+	33	5356	c.5212G>A	c.(5212-5214)Ggt>Agt	p.G1738S	DYNC2H1_uc009yxe.1_Intron|DYNC2H1_uc001pho.2_Missense_Mutation_p.G1738S	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	Homo sapiens dynein, cytoplasmic 2, heavy chain 1 (DYNC2H1), transcript variant 2, mRNA.	1738	AAA 1 (By similarity).				Golgi organization|cell projection organization|microtubule-based movement|multicellular organismal development	Golgi apparatus|cilium axoneme|dynein complex|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TGGGGCCTGGGGTTGTTTTGA	0.353000														16			16		0	0	1	0	0
SLC25A46	91137	broad.mit.edu	37	5	110082040	110082040	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:110082040A>C	uc003koz.3	+	3	522	c.455A>C	c.(454-456)aAa>aCa	p.K152T	SLC25A46_uc011cvi.2_Missense_Mutation_p.K61T	NM_138773	NP_620128	Q96AG3	S2546_HUMAN	Homo sapiens solute carrier family 25, member 46 (SLC25A46), mRNA.	152					transport	integral to membrane|mitochondrial inner membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	10		all_cancers(142;0.00203)|all_epithelial(76;4.52e-05)|Prostate(80;0.0115)|Colorectal(57;0.0676)|Ovarian(225;0.156)		OV - Ovarian serous cystadenocarcinoma(64;2.58e-09)|Epithelial(69;7.29e-08)|all cancers(49;9.35e-06)|COAD - Colon adenocarcinoma(37;0.211)		AGTTTCAACAAAACTCAGGTG	0.289000														58			7		0	0	1	0	0
VAT1L	57687	broad.mit.edu	37	16	77850856	77850856	+	Missense_Mutation	SNP	A	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:77850856A>T	uc002ffg.1	+	1	369	c.272A>T	c.(271-273)aAt>aTt	p.N91I		NM_020927	NP_065978	Q9HCJ6	VAT1L_HUMAN	Homo sapiens vesicle amine transport protein 1 homolog (T. californica)-like (VAT1L), mRNA.	91							oxidoreductase activity|zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						CGACAAGGGAATATTGACAAC	0.443000														48			45		0	0	1	0	0
PLCL1	5334	broad.mit.edu	37	2	198950953	198950953	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:198950953G>A	uc010fsp.3	+	1	3110	c.2712G>A	c.(2710-2712)atG>atA	p.M904I	PLCL1_uc002uuv.4_Missense_Mutation_p.M825I	NM_006226	NP_006217	Q15111	PLCL1_HUMAN	Homo sapiens phospholipase C-like 1 (PLCL1), mRNA.	904					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	GAGAAAATATGCAGGTAGGAG	0.353000														29			4		0	0	1	0	0
FOLH1	2346	broad.mit.edu	37	11	49207246	49207246	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:49207246A>G	uc001ngy.3	-	5	1062	c.801T>C	c.(799-801)ccT>ccC	p.P267P	FOLH1_uc009yly.3_Silent_p.P252P|FOLH1_uc009ylz.3_Silent_p.P252P|FOLH1_uc001ngz.3_Silent_p.P267P|FOLH1_uc009yma.3_Intron	NM_004476	NP_001180402	Q04609	FOLH1_HUMAN	Homo sapiens folate hydrolase (prostate-specific membrane antigen) 1 (FOLH1), transcript variant 1, mRNA.	267					proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	CTGGTGTGAGAGGGTCTCCTG	0.423000														40			9		0	0	1	0	0
UCKL1	54963	broad.mit.edu	37	20	62577807	62577807	+	Splice_Site	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:62577807G>A	uc010gkn.3	-	2	379	c.304_splice	c.e2+1	p.G102_splice	UCKL1_uc011abm.2_Splice_Site_p.G87_splice|UCKL1_uc011abn.2_Splice_Site|UCKL1_uc011abo.2_Splice_Site	NM_017859	NP_060329	Q9NWZ5	UCKL1_HUMAN	Homo sapiens uridine-cytidine kinase 1-like 1 (UCKL1), transcript variant 1, mRNA.	102					interspecies interaction between organisms	endoplasmic reticulum|nucleus	ATP binding|phosphotransferase activity, alcohol group as acceptor|protein binding|uridine kinase activity			endometrium(3)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					TGCTCTCACCGATGGCGAAGG	0.677000														10			5		0	0	1	0	0
XDH	7498	broad.mit.edu	37	2	31591522	31591522	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:31591522G>A	uc002rnv.1	-	18	2064	c.1985C>T	c.(1984-1986)aCt>aTt	p.T662I		NM_000379	NP_000370	P47989	XDH_HUMAN	Homo sapiens xanthine dehydrogenase (XDH), mRNA.	662					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	CCCAACACAAGTAACCTAGTA	0.468000														50			31		0	0	1	0	0
TULP4	56995	broad.mit.edu	37	6	158923090	158923090	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:158923090C>T	uc003qrf.3	+	12	3752	c.2395C>T	c.(2395-2397)Cag>Tag	p.Q799*	TULP4_uc003qrg.3_Intron	NM_020245	NP_064630	Q9NRJ4	TULP4_HUMAN	Homo sapiens tubby like protein 4 (TULP4), transcript variant 1, mRNA.	799					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		CGAACACCTGCAGAAGTCAGC	0.647000														47			7		0	0	1	0	0
HPS1	3257	broad.mit.edu	37	10	100202908	100202908	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:100202908G>A	uc021pwv.1	-	2	336	c.90C>T	c.(88-90)ttC>ttT	p.F30F	HPS1_uc009xwb.3_Non-coding_Transcript|HPS1_uc010qph.1_Silent_p.F30F|HPS1_uc001kpl.3_Silent_p.F30F	NM_000195	NP_000186	Q92902	HPS1_HUMAN	Homo sapiens Hermansky-Pudlak syndrome 1 (HPS1), transcript variant 1, mRNA.	30					lysosome organization|response to stimulus|visual perception	cytoplasmic membrane-bounded vesicle|integral to plasma membrane|lysosome|membrane fraction|soluble fraction	protein dimerization activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.234)		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)		CTGACTGCCCGAACTTCAGCC	0.557000									Hermansky-Pudlak syndrome					59			32		0	0	1	0	0
SGK3	23678	broad.mit.edu	37	8	67752295	67752295	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:67752295G>A	uc003xwp.3	+	12	1430	c.799G>A	c.(799-801)Gct>Act	p.A267T	SGK3_uc003xwr.3_Missense_Mutation_p.A267T|SGK3_uc003xwt.3_Missense_Mutation_p.A267T|SGK3_uc003xwu.3_Missense_Mutation_p.A267T	NM_001204173	NP_001191102	Q96BR1	SGK3_HUMAN	Homo sapiens C8orf44-SGK3 readthrough (C8orf44-SGK3), mRNA.	267	Protein kinase.				cell communication|response to stress	cytoplasmic membrane-bounded vesicle|early endosome	ATP binding|phosphatidylinositol binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	18	Breast(64;0.186)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0046)|OV - Ovarian serous cystadenocarcinoma(28;0.0112)|all cancers(69;0.0141)|BRCA - Breast invasive adenocarcinoma(89;0.206)			TAGGTTTTACGCTGCTGAAAT	0.368000														50			31		0	0	1	0	0
ROCK1	6093	broad.mit.edu	37	18	18622660	18622660	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:18622660A>G	uc002kte.3	-	6	1627	c.686T>C	c.(685-687)gTa>gCa	p.V229A		NM_005406	NP_005397	Q13464	ROCK1_HUMAN	Homo sapiens Rho-associated, coiled-coil containing protein kinase 1 (ROCK1), mRNA.	229	Protein kinase.				Rho protein signal transduction|actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking	Golgi membrane|centriole|cytosol	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					ATCACATCGTACCATGCCTTC	0.373000														56			4		0	0	1	0	0
GPS2	2874	broad.mit.edu	37	17	7224947	7224947	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7224947T>G	uc002gga.1	-	17	3038	c.3031A>C	c.(3031-3033)Agc>Cgc	p.S1011R	GPS2_uc002gfy.1_5'Flank|GPS2_uc002gfz.1_5'Flank|GPS2_uc002ggb.1_Missense_Mutation_p.S1009R|GPS2_uc002ggc.1_Missense_Mutation_p.S357R	NM_032442	NP_115818	Q13227	GPS2_HUMAN	Homo sapiens neuralized homolog 4 (Drosophila) (NEURL4), transcript variant 1, mRNA.	0					JNK cascade|cell cycle|inactivation of MAPK activity|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter	transcriptional repressor complex	GTPase inhibitor activity|protein binding|transcription corepressor activity			breast(1)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(4)	24		Prostate(122;0.157)				ACTTCACAGCTGGATACCATC	0.652000														62			6		0	0	1	0	0
HCFC1	3054	broad.mit.edu	37	X	153215027	153215027	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153215027C>T	uc004fjp.3	-	24	6573	c.6045G>A	c.(6043-6045)aaG>aaA	p.K2015K		NM_005334	NP_005325	P51610	HCFC1_HUMAN	Homo sapiens host cell factor C1 (VP16-accessory protein) (HCFC1), mRNA.	2015					cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex|MLL5-L complex|Set1C/COMPASS complex|mitochondrion	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ACATGGGCCGCTTGTTGGCTG	0.532000														58			29		0	0	1	0	0
PCDP1	200373	broad.mit.edu	37	2	120388383	120388383	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:120388383C>T	uc002tmb.3	+	19	2134	c.1022C>T	c.(1021-1023)tCc>tTc	p.S341F	PCDP1_uc010yyq.2_Missense_Mutation_p.S471F	NM_001029996	NP_001025167	Q4G0U5	PCDP1_HUMAN	Homo sapiens primary ciliary dyskinesia protein 1 (PCDP1), mRNA.	627						cilium	calmodulin binding					Colorectal(110;0.196)					AAACAGGACTCCACAACTCAG	0.458000														74			46		0	0	1	0	0
AKAP5	9495	broad.mit.edu	37	14	64936301	64936301	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:64936301T>C	uc021ruk.1	+	0	1189	c.1189T>C	c.(1189-1191)Tct>Cct	p.S397P	ZBTB25_uc001xhc.3_Intron|AKAP5_uc001xhd.4_Missense_Mutation_p.S397P	NM_004857	NP_004848	P24588	AKAP5_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 5 (AKAP5), mRNA.	397	PKA-RII subunit binding domain.				energy reserve metabolic process|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting|regulation of insulin secretion|signal transduction|synaptic transmission	cytosol	adenylate cyclase binding|calmodulin binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|stomach(1)	13				all cancers(60;0.00749)|OV - Ovarian serous cystadenocarcinoma(108;0.0095)|BRCA - Breast invasive adenocarcinoma(234;0.0449)		TGAAACAGCCTCTTCTCTAGT	0.338000														153			11		0	0	1	0	0
NSMAF	8439	broad.mit.edu	37	8	59498535	59498535	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:59498535C>A	uc011lee.2	-	28	2625	c.2564G>T	c.(2563-2565)gGa>gTa	p.G855V	NSMAF_uc003xtt.3_Missense_Mutation_p.G824V	NM_001144772	NP_001138244	Q92636	FAN_HUMAN	Homo sapiens neutral sphingomyelinase (N-SMase) activation associated factor (NSMAF), transcript variant 2, mRNA.	824					ceramide metabolic process	cytoplasm|soluble fraction	protein binding|receptor signaling protein activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38		all_lung(136;0.174)|Lung NSC(129;0.2)				gccatctgttcctgtgctgag	0.443000														83			7		0.0293803	0.0299714	1	1	0
SH3GLB1	51100	broad.mit.edu	37	1	87208030	87208030	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:87208030C>A	uc001dly.3	+	8	1318	c.988C>A	c.(988-990)Ctt>Att	p.L330I	SH3GLB1_uc001dlw.3_Missense_Mutation_p.L301I|SH3GLB1_uc001dlz.3_Missense_Mutation_p.L201I|SH3GLB1_uc001dlx.3_Missense_Mutation_p.L322I	NM_001206651	NP_001193580	Q9Y371	SHLB1_HUMAN	Homo sapiens SH3-domain GRB2-like endophilin B1 (SH3GLB1), transcript variant 2, mRNA.	301	SH3.				anti-apoptosis|filopodium assembly|signal transduction	Golgi membrane|mitochondrial outer membrane	SH3 domain binding|cytoskeletal adaptor activity|protein homodimerization activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|stomach(1)	11		Lung NSC(277;0.209)		all cancers(265;0.0136)|Epithelial(280;0.0414)		CCTCAGTGACCTTAAGGAGTG	0.453000														77			26		3.17567e-06	3.57377e-06	1	1	0
PRKDC	5591	broad.mit.edu	37	8	48715981	48715981	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:48715981C>A	uc003xqi.3	-	70	9862	c.9805G>T	c.(9805-9807)Gac>Tac	p.D3269Y	PRKDC_uc003xqj.3_Missense_Mutation_p.D3269Y	NM_006904	NP_008835	P78527	PRKDC_HUMAN	Homo sapiens protein kinase, DNA-activated, catalytic polypeptide (PRKDC), transcript variant 1, mRNA.	3270	FAT.				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				AGCCAATCGTCTCTGGTTTTT	0.498000								Non-homologous end-joining						89			9		2.17888e-05	2.40634e-05	1	1	0
TSC1	7248	broad.mit.edu	37	9	135776205	135776205	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:135776205A>G	uc004cca.2	-	19	2756	c.2522T>C	c.(2521-2523)gTc>gCc	p.V841A	TSC1_uc004ccb.3_Missense_Mutation_p.V840A|TSC1_uc011mcq.1_Missense_Mutation_p.V790A|TSC1_uc011mcr.2_Intron	NM_000368	NP_000359	Q92574	TSC1_HUMAN	Homo sapiens tuberous sclerosis 1 (TSC1), transcript variant 1, mRNA.	841					activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of TOR signaling cascade|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of translation|positive regulation of focal adhesion assembly|rRNA export from nucleus|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly	TSC1-TSC2 complex|cell cortex|lamellipodium|membrane	chaperone binding|protein N-terminus binding	p.?(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		CTGCTGCTGGACCGACTCACT	0.448000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis					41			31		0	0	1	0	0
MYBPC2	4606	broad.mit.edu	37	19	50939873	50939873	+	Splice_Site	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:50939873G>T	uc002psf.2	+	5	397	c.346_splice	c.e5-1	p.V116_splice		NM_004533	NP_004524	Q14324	MYPC2_HUMAN	Homo sapiens myosin binding protein C, fast type (MYBPC2), mRNA.	116	Ig-like C2-type 1.				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		CCTGGACCCAGGTGTACACCG	0.612000														31			17		4.7546e-09	5.62729e-09	1	1	0
FAT2	2196	broad.mit.edu	37	5	150947407	150947407	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:150947407G>A	uc003lue.4	-	0	1099	c.1086C>T	c.(1084-1086)ttC>ttT	p.F362F	FAT2_uc010jhx.1_Silent_p.F362F	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	362					epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAGCCTTCTCGAATTTGAGGG	0.547000														40			48		0	0	1	0	0
SEC22B	9554	broad.mit.edu	37	1	145115738	145115738	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:145115738T>C	uc001eml.1	+	5	634	c.494T>C	c.(493-495)tTg>tCg	p.L165S	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron	NM_004892	NP_004883	O75396	SC22B_HUMAN	Homo sapiens SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene) (SEC22B), mRNA.	166	v-SNARE coiled-coil homology.				ER to Golgi vesicle-mediated transport|protein transport	ER-Golgi intermediate compartment membrane|Golgi membrane|endoplasmic reticulum membrane|integral to membrane|melanosome	protein binding										TTGACAGCATTGGATTCAAAG	0.388000														167			12		0	0	1	0	0
PYGB	5834	broad.mit.edu	37	20	25259041	25259041	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:25259041G>A	uc002wup.3	+	7	1051	c.942G>A	c.(940-942)tcG>tcA	p.S314S		NM_002862	NP_002853	P11216	PYGB_HUMAN	Homo sapiens phosphorylase, glycogen; brain (PYGB), mRNA.	314					glucose metabolic process|glycogen catabolic process	cytoplasm	glycogen phosphorylase activity|pyridoxal phosphate binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31					Pyridoxal Phosphate(DB00114)	GCTTCAAGTCGTCCAAGTTCG	0.617000														48			5		0	0	1	0	0
DYNC1LI1	51143	broad.mit.edu	37	3	32586466	32586466	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:32586466G>A	uc003cfb.4	-	3	574	c.470C>T	c.(469-471)aCt>aTt	p.T157I	DYNC1LI1_uc011axh.2_Intron	NM_016141	NP_057225	Q9Y6G9	DC1L1_HUMAN	Homo sapiens dynein, cytoplasmic 1, light intermediate chain 1 (DYNC1LI1), mRNA.	157					cell division|interspecies interaction between organisms|mitosis|positive regulation of mitotic cell cycle spindle assembly checkpoint|transport	centrosome|condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|plasma membrane|spindle pole	ATP binding|motor activity	p.W156L(1)		kidney(2)|large_intestine(1)|lung(3)|ovary(1)	7						ATCCAAAGCAGTCCAAGGCTT	0.398000														48			44		0	0	1	0	0
FBXO36	130888	broad.mit.edu	37	2	230861496	230861496	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:230861496A>G	uc010fxi.1	+	2	258	c.235A>G	c.(235-237)Ata>Gta	p.I79V	FBXO36_uc002vqa.3_Missense_Mutation_p.I79V|FBXO36_uc002vqb.3_Missense_Mutation_p.I48V	NM_174899	NP_777559	Q8NEA4	FBX36_HUMAN	Homo sapiens F-box protein 36 (FBXO36), mRNA.	79								p.I79M(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	7		Renal(207;0.0112)|all_lung(227;0.0179)|Lung NSC(271;0.0804)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;7.56e-14)|all cancers(144;7.74e-11)|Lung(119;0.00488)|LUSC - Lung squamous cell carcinoma(224;0.008)		TGGTGCAAGAATATTAGACTA	0.333000														73			53		0	0	1	0	0
KRT80	144501	broad.mit.edu	37	12	52566080	52566080	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:52566080C>T	uc001rzw.3	-	4	1236	c.1185G>A	c.(1183-1185)gcG>gcA	p.A395A	KRT80_uc001rzy.3_Silent_p.A360A|KRT80_uc001rzx.3_Silent_p.A360A	NM_182507	NP_872313	Q6KB66	K2C80_HUMAN	Homo sapiens keratin 80 (KRT80), transcript variant 1, mRNA.	360	Tail.					keratin filament	structural molecule activity			endometrium(2)|large_intestine(2)|lung(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.108)		GCAGCTGCCGCGCCATGTCCT	0.642000														40			15		0	0	1	0	0
MRGPRX4	117196	broad.mit.edu	37	11	18194963	18194963	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:18194963T>C	uc001mnv.1	+	0	580	c.160T>C	c.(160-162)Tac>Cac	p.Y54H		NM_054032	NP_473373	Q96LA9	MRGX4_HUMAN	Homo sapiens MAS-related GPR, member X4 (MRGPRX4), mRNA.	54			Y -> C (in dbSNP:rs1869788).			integral to membrane|plasma membrane	G-protein coupled receptor activity	p.G53R(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						GCTCCTGGGCTACCGCATGCG	0.552000														57			36		0	0	1	0	0
CELSR3	1951	broad.mit.edu	37	3	48669381	48669381	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:48669381C>T	uc003cuf.1	-	41	10897	c.10897G>A	c.(10897-10899)Gtc>Atc	p.V3633I	CELSR3_uc003cug.3_Missense_Mutation_p.V207I|CELSR3_uc011bbp.2_Missense_Mutation_p.R193H|CELSR3_uc010hke.3_Missense_Mutation_p.V79I|CELSR3_uc003cuk.3_Intron|CELSR3_uc003cuh.3_Missense_Mutation_p.V228I|CELSR3_uc003cui.3_Missense_Mutation_p.V228I|CELSR3_uc003cuj.3_Missense_Mutation_p.V228I	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA.	0					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		AGCTGTGAGACGAAGACCTGC	0.582000														35			21		0	0	1	0	0
PCNXL2	80003	broad.mit.edu	37	1	233353846	233353846	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:233353846G>T	uc001hvl.2	-	10	2824	c.2589C>A	c.(2587-2589)ggC>ggA	p.G863G	PCNXL2_uc009xfu.3_Non-coding_Transcript|PCNXL2_uc001hvp.1_Non-coding_Transcript|PCNXL2_uc009xfv.1_Non-coding_Transcript|PCNXL2_uc001hvq.1_Silent_p.G162G	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA.	863						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				CTTTGCAAAAGCCTTGGCTCA	0.463000														7			3		0.150653	0.152248	1	1	0
MYO18B	84700	broad.mit.edu	37	22	26165202	26165202	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:26165202G>A	uc003abz.1	+	3	1569	c.1319G>A	c.(1318-1320)aGc>aAc	p.S440N	MYO18B_uc003aca.1_Missense_Mutation_p.S321N|MYO18B_uc010guy.1_Missense_Mutation_p.S321N|MYO18B_uc010guz.1_Missense_Mutation_p.S321N|MYO18B_uc011aka.1_5'UTR|MYO18B_uc011akb.1_5'Flank	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	440						nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						TGGCCAGGAAGCCGTGGGCAG	0.632000														5			4		0	0	1	0	0
FAM193A	8603	broad.mit.edu	37	4	2692619	2692619	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:2692619T>G	uc010ick.3	+	13	2453	c.2452T>G	c.(2452-2454)Tct>Gct	p.S818A	FAM193A_uc003gfd.3_Missense_Mutation_p.S618A|FAM193A_uc011bvm.2_Missense_Mutation_p.S640A|FAM193A_uc011bvn.2_Missense_Mutation_p.S618A|FAM193A_uc010icl.3_Missense_Mutation_p.S618A|FAM193A_uc011bvo.2_Non-coding_Transcript|FAM193A_uc010icm.3_Non-coding_Transcript|FAM193A_uc003gfe.2_Missense_Mutation_p.S472A	NM_003704	NP_003695	P78312	F193A_HUMAN	Homo sapiens family with sequence similarity 193, member A (FAM193A), mRNA.	618										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						AGCCACGTCCTCTGTGTCCTG	0.458000														64			5		0	0	1	0	0
APEX2	27301	broad.mit.edu	37	X	55026892	55026892	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:55026892C>T	uc004dtz.3	+	0	113	c.37C>T	c.(37-39)Cgg>Tgg	p.R13W	PFKFB1_uc011mol.1_5'Flank|APEX2_uc011mom.2_5'UTR	NM_014481	NP_055296	Q9UBZ4	APEX2_HUMAN	Homo sapiens APEX nuclease (apurinic/apyrimidinic endonuclease) 2 (APEX2), nuclear gene encoding mitochondrial protein, mRNA.	13					DNA recombination|DNA repair|cell cycle	nucleus	DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|endonuclease activity|exonuclease activity|zinc ion binding			breast(1)|endometrium(8)|large_intestine(4)|lung(6)|prostate(1)|urinary_tract(1)	21						CAATGGGATTCGGAGACCCCT	0.602000								Other BER factors						6			4		0	0	1	0	0
ATP11A	23250	broad.mit.edu	37	13	113465017	113465017	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:113465017C>T	uc001vsj.4	+	4	506	c.418C>T	c.(418-420)Cgg>Tgg	p.R140W	ATP11A_uc001vsi.4_Missense_Mutation_p.R140W|ATP11A_uc001vsm.1_Missense_Mutation_p.R16W	NM_032189	NP_115565	P98196	AT11A_HUMAN	Homo sapiens ATPase, class VI, type 11A (ATP11A), transcript variant 2, mRNA.	140					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				CAAGCTCGTTCGGAAACAAAG	0.443000														40			18		0	0	1	0	0
EPHA8	2046	broad.mit.edu	37	1	22927938	22927938	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:22927938C>A	uc001bfx.1	+	15	3000	c.2875C>A	c.(2875-2877)Ctg>Atg	p.L959M		NM_020526	NP_065387	P29322	EPHA8_HUMAN	Homo sapiens EPH receptor A8 (EPHA8), transcript variant 1, mRNA.	959	SAM.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		ATACTCCTCTCTGGGCATGGT	0.711000														39			17		6.49762e-13	8.04122e-13	1	1	0
PLRG1	5356	broad.mit.edu	37	4	155463420	155463420	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:155463420C>T	uc003iny.3	-	7	731	c.606G>A	c.(604-606)ggG>ggA	p.G202G	PLRG1_uc003inz.3_Silent_p.G193G|PLRG1_uc011cil.2_Silent_p.G41G	NM_002669	NP_002660	O43660	PLRG1_HUMAN	Homo sapiens pleiotropic regulator 1 (PLRG1), transcript variant 1, mRNA.	202						catalytic step 2 spliceosome|nuclear speck	protein binding|signal transducer activity|transcription corepressor activity	p.G202G(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|skin(1)|urinary_tract(1)	22	all_hematologic(180;0.215)	Renal(120;0.0854)				AGCCAAGATGCCCACTGATAA	0.413000														26			21		0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152470620	152470620	+	Missense_Mutation	SNP	G	A	A	rs139885317		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:152470620G>A	uc021zhb.1	-	133	24857	c.24634C>T	c.(24634-24636)Cgc>Tgc	p.R8212C	SYNE1_uc003qos.4_Missense_Mutation_p.R2736C|SYNE1_uc003qot.4_Missense_Mutation_p.R8141C|SYNE1_uc003qou.4_Missense_Mutation_p.R8212C|SYNE1_uc011eez.2_Missense_Mutation_p.R414C|SYNE1_uc003qoq.4_Missense_Mutation_p.R414C|SYNE1_uc003qor.4_Missense_Mutation_p.R1112C	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	8212					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	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)		ACAGGCAGGCGGATCAGTTTC	0.468000										HNSCC(10;0.0054)				25			28		0	0	1	0	0
WDR70	55100	broad.mit.edu	37	5	37392110	37392110	+	Nonsense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:37392110G>T	uc003jkv.3	+	3	242	c.184G>T	c.(184-186)Gaa>Taa	p.E62*	WDR70_uc010iva.1_Nonsense_Mutation_p.E62*	NM_018034	NP_060504	Q9NW82	WDR70_HUMAN	Homo sapiens WD repeat domain 70 (WDR70), mRNA.	62										central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AGAAGCAAGAGAAAAAGAGGA	0.303000														55			18		3.32936e-07	3.81974e-07	1	1	0
SBK1	388228	broad.mit.edu	37	16	28328853	28328853	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:28328853C>T	uc002dpd.3	+	1	930	c.141C>T	c.(139-141)agC>agT	p.S47S		NM_001024401	NP_001019572	Q52WX2	SBK1_HUMAN	Homo sapiens SH3-binding domain kinase 1 (SBK1), mRNA.	47						cytoplasm	ATP binding|protein serine/threonine kinase activity			kidney(1)|lung(3)|ovary(1)	5						TGGCCGCCAGCGACGTCACCA	0.632000											OREG0023701	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		25			23		0	0	1	0	0
IRS2	8660	broad.mit.edu	37	13	110434638	110434638	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:110434638C>T	uc001vqv.3	-	0	4277	c.3763G>A	c.(3763-3765)Gcc>Acc	p.A1255T		NM_003749	NP_003740	Q9Y4H2	IRS2_HUMAN	Homo sapiens insulin receptor substrate 2 (IRS2), mRNA.	1255					fibroblast growth factor receptor signaling pathway|glucose metabolic process|insulin receptor signaling pathway|lipid homeostasis|negative regulation of B cell apoptosis|negative regulation of kinase activity|negative regulation of plasma membrane long-chain fatty acid transport|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of B cell proliferation|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|response to glucose stimulus	cytosol|plasma membrane	insulin receptor binding|signal transducer activity			kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	19	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)			ACGTCGATGGCGATGTAGTTG	0.711000														8			7		0	0	1	0	0
PUS7	54517	broad.mit.edu	37	7	105148912	105148912	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:105148912C>A	uc010lji.3	-	0	56	c.48G>T	c.(46-48)ctG>ctT	p.L16L	PUS7_uc003vcx.3_Silent_p.L16L|PUS7_uc003vcy.3_Silent_p.L16L|PUS7_uc003vcz.1_Silent_p.L16L	NM_019042	NP_061915	Q96PZ0	PUS7_HUMAN	Homo sapiens pseudouridylate synthase 7 homolog (S. cerevisiae) (PUS7), mRNA.	16					pseudouridine synthesis|tRNA processing		RNA binding|pseudouridine synthase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|pancreas(1)|skin(1)	23						CTTCGACAACCAGTGCCCCAC	0.433000														121			8		1.12685e-05	1.25391e-05	1	1	0
BMP1	649	broad.mit.edu	37	8	22054225	22054225	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:22054225G>A	uc003xbg.3	+	13	2064	c.1798G>A	c.(1798-1800)Ggc>Agc	p.G600S	BMP1_uc003xbf.3_Missense_Mutation_p.G349S|BMP1_uc003xbb.3_Missense_Mutation_p.G600S|BMP1_uc003xbc.3_Missense_Mutation_p.G349S|BMP1_uc003xbd.3_Non-coding_Transcript|BMP1_uc003xbe.3_Non-coding_Transcript|BMP1_uc011kzc.2_Missense_Mutation_p.G349S|BMP1_uc003xbh.3_Non-coding_Transcript|BMP1_uc003xbi.3_Non-coding_Transcript	NM_006129	NP_006120	P13497	BMP1_HUMAN	Homo sapiens bone morphogenetic protein 1 (BMP1), transcript variant 3, mRNA.	600	CUB 3.				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		CAAGCTCAACGGCTCCATCAC	0.647000														29			17		0	0	1	0	0
YIPF4	84272	broad.mit.edu	37	2	32530576	32530576	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:32530576G>A	uc002rok.3	+	5	883	c.616G>A	c.(616-618)Gct>Act	p.A206T		NM_032312	NP_115688	Q9BSR8	YIPF4_HUMAN	Homo sapiens Yip1 domain family, member 4 (YIPF4), mRNA.	206						endoplasmic reticulum|integral to membrane	protein binding			kidney(2)|lung(3)|prostate(3)|skin(1)	9	Acute lymphoblastic leukemia(172;0.155)					TGTGTTTTGGGCTGCCTACAG	0.328000														45			26		0	0	1	0	0
GRAMD1C	54762	broad.mit.edu	37	3	113655184	113655184	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:113655184C>T	uc003eaq.4	+	13	1604	c.1528C>T	c.(1528-1530)Cga>Tga	p.R510*	GRAMD1C_uc011bil.2_Non-coding_Transcript|GRAMD1C_uc003ear.3_Nonsense_Mutation_p.R343*|GRAMD1C_uc003eas.3_Nonsense_Mutation_p.R305*|GRAMD1C_uc003eat.3_Nonsense_Mutation_p.R169*	NM_017577	NP_001165576	Q8IYS0	GRM1C_HUMAN	Homo sapiens GRAM domain containing 1C (GRAMD1C), transcript variant 1, mRNA.	510						integral to membrane				NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	26						TACTGGCCTACGAAGGAGAAG	0.393000														51			25		0	0	1	0	0
ESYT1	23344	broad.mit.edu	37	12	56536911	56536911	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56536911T>C	uc001sjr.3	+	27	3246	c.3128T>C	c.(3127-3129)cTg>cCg	p.L1043P	ESYT1_uc001sjq.3_Missense_Mutation_p.L1033P	NM_001184796	NP_001171725	Q9BSJ8	ESYT1_HUMAN	Homo sapiens extended synaptotagmin-like protein 1 (ESYT1), transcript variant 1, mRNA.	1033	C2 5.					integral to membrane				breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						AAGAGGACCCTGAGTCCTGAA	0.537000														40			29		0	0	1	0	0
HPD	3242	broad.mit.edu	37	12	122294280	122294280	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:122294280C>T	uc001ubj.3	-	5	314	c.274G>A	c.(274-276)Gga>Aga	p.G92R	HPD_uc001ubk.3_Missense_Mutation_p.G53R	NM_002150	NP_001165464	P32754	HPPD_HUMAN	Homo sapiens 4-hydroxyphenylpyruvate dioxygenase (HPD), transcript variant 1, mRNA.	92					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	4-hydroxyphenylpyruvate dioxygenase activity|metal ion binding			breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|urinary_tract(1)	18	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000105)|Epithelial(86;0.000352)|BRCA - Breast invasive adenocarcinoma(302;0.225)	Nitisinone(DB00348)	TCCTTCACTCCGTCACCGTGT	0.567000														53			6		0	0	1	0	0
DOM3Z	1797	broad.mit.edu	37	6	31938862	31938862	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31938862G>A	uc003nyp.1	-	2	752	c.419C>T	c.(418-420)aCg>aTg	p.T140M	DOM3Z_uc003nyq.1_5'UTR|DOM3Z_uc010jtl.1_3'UTR|STK19_uc003nyt.3_5'Flank|STK19_uc011dow.2_5'Flank|STK19_uc011dox.1_5'Flank|STK19_uc003nyv.3_5'Flank|STK19_uc003nyw.3_5'Flank|STK19_uc010jtn.1_5'Flank	NM_005510	NP_005501	O77932	DOM3Z_HUMAN	Homo sapiens dom-3 homolog Z (C. elegans) (DOM3Z), mRNA.	140							identical protein binding|metal ion binding|nucleotide binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	7						ATACGGTGTCGTCAGCAGTTT	0.622000														44			17		0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100681191	100681191	+	Missense_Mutation	SNP	G	A	A	rs148535690		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100681191G>A	uc003uxp.1	+	2	6547	c.6494G>A	c.(6493-6495)aGt>aAt	p.S2165N	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	2165	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)					CCTTTAACAAGTATGCCTGTC	0.468000														315			20		0	0	1	0	0
CHD3	1107	broad.mit.edu	37	17	7803351	7803351	+	Splice_Site	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7803351G>T	uc002gjd.2	+	16	2861	c.2859_splice	c.e16+1	p.K953_splice	CHD3_uc002gje.2_Splice_Site_p.K894_splice|CHD3_uc002gjf.2_Splice_Site_p.K894_splice	NM_001005271	NP_001005271	Q12873	CHD3_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 3 (CHD3), transcript variant 3, mRNA.	894					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	NuRD complex|microtubule organizing center	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				ACCAGTCCAAGGTGAGTGAGG	0.473000														15			13		4.3838e-07	5.01911e-07	1	1	0
ALG5	29880	broad.mit.edu	37	13	37569720	37569720	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:37569720G>A	uc001uvy.3	-	1	147	c.80C>T	c.(79-81)gCa>gTa	p.A27V	ALG5_uc010teq.2_Missense_Mutation_p.A27V|ALG5_uc010ter.2_Non-coding_Transcript	NM_013338	NP_037470	Q9Y673	ALG5_HUMAN	Homo sapiens asparagine-linked glycosylation 5, dolichyl-phosphate beta-glucosyltransferase homolog (S. cerevisiae) (ALG5), transcript variant 1, mRNA.	27					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate beta-glucosyltransferase activity|oligosaccharyl transferase activity	p.V26I(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	11		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)		all cancers(112;5.79e-07)|Epithelial(112;1.81e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00785)|BRCA - Breast invasive adenocarcinoma(63;0.0127)|GBM - Glioblastoma multiforme(144;0.0472)		AGTTGTAAATGCAACGATGGA	0.343000														38			14		0	0	1	0	0
KIAA1751	85452	broad.mit.edu	37	1	1916825	1916825	+	Splice_Site	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:1916825T>C	uc001aim.1	-	6	656	c.500_splice	c.e6+1	p.E167_splice	KIAA1751_uc009vkz.1_Splice_Site_p.E167_splice|KIAA1751_uc001ain.1_Missense_Mutation_p.E167G	NM_001080484	NP_001073953	Q9C0B2	K1751_HUMAN	Homo sapiens KIAA1751 (KIAA1751), mRNA.	167										breast(1)|endometrium(5)|kidney(4)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	32	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;8.79e-39)|OV - Ovarian serous cystadenocarcinoma(86;9.61e-25)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;4.84e-05)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		ACCGACTCACTCGCTCTCCTT	0.647000														51			4		0	0	1	0	0
KDM6B	23135	broad.mit.edu	37	17	7753424	7753424	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7753424T>C	uc002gix.3	+	2	2345	c.1508T>C	c.(1507-1509)cTg>cCg	p.L503P	KDM6B_uc002giw.1_Missense_Mutation_p.L1201P	NM_001080424	NP_001073893	O15054	KDM6B_HUMAN	Homo sapiens lysine (K)-specific demethylase 6B (KDM6B), mRNA.	1201	Pro-rich.				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						TCACCTGTCCTGCTGCAGTTC	0.622000														18			12		0	0	1	0	0
TRMT12	55039	broad.mit.edu	37	8	125464168	125464168	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:125464168C>T	uc003yra.4	+	0	1121	c.1000C>T	c.(1000-1002)Cat>Tat	p.H334Y		NM_017956	NP_060426	Q53H54	TYW2_HUMAN	Homo sapiens tRNA methyltransferase 12 homolog (S. cerevisiae) (TRMT12), mRNA.	334					tRNA processing		methyltransferase activity			breast(2)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			AGGCATTTTGCATATCCACCA	0.478000														39			19		0	0	1	0	0
EPHB3	2049	broad.mit.edu	37	3	184295234	184295234	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:184295234C>T	uc003foz.3	+	5	1895	c.1458C>T	c.(1456-1458)taC>taT	p.Y486Y		NM_004443	NP_004434	P54753	EPHB3_HUMAN	Homo sapiens EPH receptor B3 (EPHB3), mRNA.	486	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			TCCTGGACTACGAGATGAAGT	0.602000														52			33		0	0	1	0	0
DDX4	54514	broad.mit.edu	37	5	55075867	55075867	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:55075867G>A	uc003jqg.4	+	7	569	c.470G>A	c.(469-471)cGt>cAt	p.R157H	DDX4_uc010ivz.3_Missense_Mutation_p.R137H|DDX4_uc003jqh.4_Intron|DDX4_uc003jqj.3_Intron	NM_024415	NP_077726	Q9NQI0	DDX4_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 4 (DDX4), transcript variant 1, mRNA.	157	Gly-rich.				multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				CGAGGTTGCCGTGGAGGATTT	0.373000														36			10		0	0	1	0	0
RNF14	9604	broad.mit.edu	37	5	141357958	141357958	+	Nonsense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:141357958G>T	uc003llz.3	+	4	645	c.397G>T	c.(397-399)Gag>Tag	p.E133*	RNF14_uc003lly.3_Nonsense_Mutation_p.E133*|RNF14_uc003lma.3_Nonsense_Mutation_p.E133*|RNF14_uc003lmb.3_Nonsense_Mutation_p.E7*|RNF14_uc003lmc.3_Nonsense_Mutation_p.E133*|RNF14_uc011dbg.2_Intron|RNF14_uc011dbh.2_Intron|RNF14_uc003lmd.3_Nonsense_Mutation_p.E133*	NM_001201365	NP_001188294	Q9UBS8	RNF14_HUMAN	Homo sapiens ring finger protein 14 (RNF14), transcript variant 6, mRNA.	133	RWD.				androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|protein ubiquitination|regulation of androgen receptor signaling pathway|regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|small conjugating protein ligase activity|transcription coactivator activity|zinc ion binding			cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15		all_hematologic(541;0.0536)|Ovarian(839;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)		TCTTAAGGAAGAGACCCTAGC	0.453000														59			5		0.000602214	0.000641151	1	1	0
ITPK1	3705	broad.mit.edu	37	14	93408082	93408082	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:93408082C>T	uc001ybg.3	-	10	1358	c.1069G>A	c.(1069-1071)Gcc>Acc	p.A357T	ITPK1_uc001ybe.2_Intron|ITPK1_uc001ybf.3_Missense_Mutation_p.A238T|ITPK1_uc001ybh.3_Missense_Mutation_p.A357T	NM_014216	NP_055031	Q13572	ITPK1_HUMAN	Homo sapiens inositol-tetrakisphosphate 1-kinase (ITPK1), transcript variant 1, mRNA.	357					blood coagulation|inositol trisphosphate metabolic process|signal transduction	cytosol	ATP binding|hydrolase activity|inositol tetrakisphosphate 1-kinase activity|inositol-1,3,4-trisphosphate 5/6-kinase activity|isomerase activity|ligase activity|magnesium ion binding			endometrium(1)|large_intestine(3)|lung(6)|ovary(1)	11		all_cancers(154;0.077)|all_epithelial(191;0.247)		Epithelial(152;0.124)|all cancers(159;0.169)		CCGGGGCTGGCGCTGCATGTC	0.736000														4			4		0	0	1	0	0
TCEB3B	51224	broad.mit.edu	37	18	44560997	44560997	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:44560997G>A	uc002lcr.1	-	0	992	c.639C>T	c.(637-639)ggC>ggT	p.G213G	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN	Homo sapiens transcription elongation factor B polypeptide 3B (elongin A2) (TCEB3B), mRNA.	213					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CCTGGGGTTGGCCCTGGCAGC	0.672000														26			12		0	0	1	0	0
CLIP3	25999	broad.mit.edu	37	19	36515309	36515309	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:36515309C>T	uc010eeq.2	-	5	1221	c.907G>A	c.(907-909)Gat>Aat	p.D303N	BC071809_uc002ocy.3_Intron|CLIP3_uc002ocz.2_Missense_Mutation_p.D303N	NM_001199570	NP_001186499	Q96DZ5	CLIP3_HUMAN	Homo sapiens CAP-GLY domain containing linker protein 3 (CLIP3), transcript variant 1, mRNA.	303					chaperone-mediated protein transport|fat cell differentiation|membrane biogenesis|negative regulation of microtubule polymerization|peptidyl-L-cysteine S-palmitoylation|positive regulation of apoptosis|positive regulation of endocytosis|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose transport|positive regulation of protein phosphorylation	Golgi stack|early endosome membrane|membrane raft|microsome|plasma membrane|recycling endosome membrane|trans-Golgi network membrane	ganglioside binding|microtubule binding			cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	23	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TTCTGGCCATCCAGCAGCACG	0.622000														21			6		0	0	1	0	0
PASK	23178	broad.mit.edu	37	2	242066235	242066235	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:242066235G>A	uc002wao.2	-	9	2228	c.2095C>T	c.(2095-2097)Ctg>Ttg	p.L699L	PASK_uc010zol.2_Silent_p.L513L|PASK_uc010zom.2_Silent_p.L664L|PASK_uc010fzl.2_Silent_p.L699L|PASK_uc010zon.2_Silent_p.L480L|PASK_uc021vzf.1_Silent_p.L699L|PASK_uc002wap.3_Silent_p.L242L|PASK_uc002waq.3_Silent_p.L699L	NM_015148	NP_055963	Q96RG2	PASK_HUMAN	Homo sapiens PAS domain containing serine/threonine kinase (PASK), transcript variant 2, mRNA.	699					regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity	p.D698H(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		CTGCCTCCCAGATCGCAGGAC	0.667000														54			33		0	0	1	0	0
SLITRK6	84189	broad.mit.edu	37	13	86369036	86369036	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:86369036G>A	uc001vll.1	-	1	2067	c.1608C>T	c.(1606-1608)agC>agT	p.S536S	SLITRK6_uc021rla.1_Silent_p.S536S	NM_032229	NP_115605	Q9H5Y7	SLIK6_HUMAN	Homo sapiens SLIT and NTRK-like family, member 6 (SLITRK6), mRNA.	536	LRRCT 2.					integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		CTGTGTTCTTGCTTAACTTTT	0.463000														37			13		0	0	1	0	0
C10orf118	55088	broad.mit.edu	37	10	115894781	115894781	+	Nonsense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:115894781C>A	uc001lbb.1	-	9	2198	c.1546G>T	c.(1546-1548)Gaa>Taa	p.E516*	C10orf118_uc009xyd.1_Nonsense_Mutation_p.E114*|C10orf118_uc009xye.1_Non-coding_Transcript|C10orf118_uc001lbc.1_Nonsense_Mutation_p.E516*	NM_018017	NP_060487	Q7Z3E2	CJ118_HUMAN	Homo sapiens chromosome 10 open reading frame 118 (C10orf118), mRNA.	516										NS(1)|autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(2)	24		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0161)|all cancers(201;0.0397)		AATTCATCTTCTGTTCTTAAT	0.308000														32			5		0.000602214	0.000641151	1	1	0
CD1A	909	broad.mit.edu	37	1	158225851	158225851	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:158225851G>T	uc001frt.3	+	2	916	c.383G>T	c.(382-384)gGa>gTa	p.G128V	CD1A_uc021pbk.1_5'Flank	NM_001763	NP_001754	P06126	CD1A_HUMAN	Homo sapiens CD1a molecule (CD1A), mRNA.	128					antigen processing and presentation|immune response	MHC class I protein complex|endosome membrane|integral to plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	AAGGTCTCAGGAAGCTTCTTG	0.438000														98			9		0.000673444	0.000715966	1	1	0
LOC645166	645166	broad.mit.edu	37	1	148932911	148932911	+	RNA	SNP	G	A	A	rs2531445	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:148932911G>A	uc010pbc.1	+	1		c.226G>A			LOC645166_uc010pbd.1_Non-coding_Transcript|LOC645166_uc009wkw.1_Non-coding_Transcript					Homo sapiens lymphocyte-specific protein 1 pseudogene (LOC645166), transcript variant 2, non-coding RNA.																		CCAAGACTCCGTCCTGCAAGG	0.612000														113			8		0	0	1	0	0
FBXO39	162517	broad.mit.edu	37	17	6683897	6683897	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:6683897C>T	uc010vtg.2	+	1	830	c.710C>T	c.(709-711)tCc>tTc	p.S237F		NM_153230	NP_694962	Q8N4B4	FBX39_HUMAN	Homo sapiens F-box protein 39 (FBXO39), mRNA.	237										NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	26						AACTGTATCTCCGACGAGCTG	0.512000														74			5		0	0	1	0	0
FAM59A	64762	broad.mit.edu	37	18	29867591	29867591	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:29867591G>A	uc002kxl.3	-	3	1025	c.969C>T	c.(967-969)gtC>gtT	p.V323V	FAM59A_uc002kxk.2_Silent_p.V323V	NM_001242409	NP_001229338	Q9H706	FA59A_HUMAN	Homo sapiens family with sequence similarity 59, member A (FAM59A), transcript variant 1, mRNA.	323										endometrium(9)|kidney(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	36						GCCAGTGATGGACCAGGGTTT	0.527000														31			15		0	0	1	0	0
MAPK10	5602	broad.mit.edu	37	4	87028381	87028381	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:87028381T>C	uc003hps.3	-	4	1047	c.361A>G	c.(361-363)Aaa>Gaa	p.K121E	MAPK10_uc010ikg.3_Missense_Mutation_p.K83E|MAPK10_uc003hpr.3_Missense_Mutation_p.K83E|MAPK10_uc003hpt.3_Missense_Mutation_p.K121E|MAPK10_uc003hpu.3_Missense_Mutation_p.K121E|MAPK10_uc003hpv.3_5'UTR|MAPK10_uc010ikh.1_Non-coding_Transcript|MAPK10_uc011ccw.2_Missense_Mutation_p.K7E|MAPK10_uc003hpo.3_5'UTR|MAPK10_uc003hpp.3_5'UTR	NM_138982	NP_620446	P53779	MK10_HUMAN	Homo sapiens mitogen-activated protein kinase 10 (MAPK10), transcript variant 2, mRNA.	121	Protein kinase.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|JUN kinase activity|MAP kinase kinase activity|protein binding			breast(1)|central_nervous_system(1)|stomach(1)	3		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243)		OV - Ovarian serous cystadenocarcinoma(123;0.002)		CTCACGTTTTTATGGTTCACA	0.418000														32			15		0	0	1	0	0
AZI1	22994	broad.mit.edu	37	17	79166385	79166385	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:79166385G>A	uc002jzp.1	-	19	2647	c.2447C>T	c.(2446-2448)gCg>gTg	p.A816V	AZI1_uc002jzm.1_Missense_Mutation_p.A243V|AZI1_uc002jzn.1_Missense_Mutation_p.A813V|AZI1_uc002jzo.1_Missense_Mutation_p.A777V|AZI1_uc010wum.1_Missense_Mutation_p.A780V|AZI1_uc002jzq.3_5'UTR	NM_014984	NP_055799	Q9UPN4	AZI1_HUMAN	Homo sapiens 5-azacytidine induced 1 (AZI1), transcript variant 1, mRNA.	816					G2/M transition of mitotic cell cycle|cell differentiation|multicellular organismal development|spermatogenesis	centrosome|cytosol|intracellular membrane-bounded organelle				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			TTCCAGCTCCGCCCGCTGCCT	0.682000														4			9		0	0	1	0	0
MARS	4141	broad.mit.edu	37	12	57891963	57891963	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57891963A>C	uc001sog.3	+	7	948	c.794A>C	c.(793-795)aAt>aCt	p.N265T	MARS_uc001sof.1_Non-coding_Transcript|MARS_uc010srp.1_Missense_Mutation_p.N138T|MARS_uc010srq.1_Missense_Mutation_p.N31T	NM_004990	NP_004981	P56192	SYMC_HUMAN	Homo sapiens methionyl-tRNA synthetase (MARS), mRNA.	265					methionyl-tRNA aminoacylation	cytosol	ATP binding|methionine-tRNA ligase activity|protein binding|tRNA binding			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	33			GBM - Glioblastoma multiforme(3;4.27e-41)		L-Methionine(DB00134)	GGAGAAAGGAATGTGCTCATC	0.537000														50			6		0	0	1	0	0
DUOX2	50506	broad.mit.edu	37	15	45392018	45392018	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:45392018G>A	uc001zun.3	-	24	3460	c.3257C>T	c.(3256-3258)aCg>aTg	p.T1086M	DUOX2_uc010bea.3_Missense_Mutation_p.T1086M	NM_014080	NP_054799	Q9NRD8	DUOX2_HUMAN	Homo sapiens dual oxidase 2 (DUOX2), mRNA.	1086	Ferric oxidoreductase.|Interaction with TXNDC11 (By similarity).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	NAD(P)H oxidase activity|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		GCTGGCCGCCGTGCCTCGTGA	0.567000														29			9		0	0	1	0	0
PLG	5340	broad.mit.edu	37	6	161160111	161160111	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:161160111C>A	uc003qtm.4	+	15	2001	c.1889C>A	c.(1888-1890)cCt>cAt	p.P630H		NM_000301	NP_000292	P00747	PLMN_HUMAN	Homo sapiens plasminogen (PLG), transcript variant 1, mRNA.	630	Peptidase S1.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	TCCCCAAGGCCTTCATCCTAC	0.502000														80			10		0.00621372	0.00645399	1	1	0
WDR70	55100	broad.mit.edu	37	5	37721297	37721297	+	Silent	SNP	C	T	T	rs112595440	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:37721297C>T	uc003jkv.3	+	13	1555	c.1497C>T	c.(1495-1497)taC>taT	p.Y499Y		NM_018034	NP_060504	Q9NW82	WDR70_HUMAN	Homo sapiens WD repeat domain 70 (WDR70), mRNA.	499										central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AAGTCTATTACGACCCCAACA	0.468000														47			33		0	0	1	0	0
CD83	9308	broad.mit.edu	37	6	14135456	14135456	+	Nonsense_Mutation	SNP	G	T	T	rs147096996	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:14135456G>T	uc003nbi.3	+	4	785	c.607G>T	c.(607-609)Gaa>Taa	p.E203*	CD83_uc021ylz.1_Nonsense_Mutation_p.E144*|CD83_uc003nbh.3_Nonsense_Mutation_p.E202*	NM_004233	NP_001238830	Q01151	CD83_HUMAN	Homo sapiens CD83 molecule (CD83), transcript variant 1, mRNA.	203					defense response|humoral immune response|signal transduction	integral to plasma membrane		p.T202I(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)	12	Breast(50;0.00245)|Ovarian(93;0.137)	all_hematologic(90;0.117)				TCACAAGACAGAACTGGTATG	0.488000														54			5		1	1	1	1	0
GMIP	51291	broad.mit.edu	37	19	19740991	19740991	+	Silent	SNP	G	A	A	rs144936310	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:19740991G>A	uc002nnd.3	-	20	2811	c.2694C>T	c.(2692-2694)acC>acT	p.T898T	LPAR2_uc002nnb.4_5'Flank|LPAR2_uc002nna.4_5'Flank|LPAR2_uc002nnc.4_5'Flank|GMIP_uc010xrb.2_Silent_p.T872T|GMIP_uc010xrc.2_Silent_p.T869T	NM_016573	NP_057657	Q9P107	GMIP_HUMAN	Homo sapiens GEM interacting protein (GMIP), mRNA.	898					negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity|metal ion binding|protein binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						ATGTGATGGGGGTCTCCTCGC	0.701000														16			9		0	0	1	0	0
PLA1A	51365	broad.mit.edu	37	3	119328400	119328400	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:119328400G>T	uc003ecu.3	+	3	605	c.539G>T	c.(538-540)gGa>gTa	p.G180V	PLA1A_uc003ecv.3_Missense_Mutation_p.G164V|PLA1A_uc011bjc.2_Missense_Mutation_p.G7V|PLA1A_uc003ecw.3_Non-coding_Transcript	NM_015900	NP_001193890	Q53H76	PLA1A_HUMAN	Homo sapiens phospholipase A1 member A (PLA1A), transcript variant 1, mRNA.	180					lipid catabolic process|phosphatidylserine metabolic process	extracellular region	phospholipase A1 activity			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CAGCTCTTCGGAGGCCAGCTG	0.532000														89			15		1.15088e-07	1.32926e-07	1	1	0
MYLK3	91807	broad.mit.edu	37	16	46771675	46771675	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:46771675C>A	uc002eei.4	-	2	1065	c.949G>T	c.(949-951)Ggg>Tgg	p.G317W	MYLK3_uc010vge.2_Intron|MYLK3_uc002eej.1_5'UTR	NM_182493	NP_872299	Q32MK0	MYLK3_HUMAN	Homo sapiens myosin light chain kinase 3 (MYLK3), mRNA.	317					cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				GCTGGCAGCCCTGGAGGCCCT	0.657000														61			7		0.0381472	0.0388409	1	1	0
PHRF1	57661	broad.mit.edu	37	11	609157	609157	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:609157C>T	uc001lqe.3	+	13	3832	c.3701C>T	c.(3700-3702)aCg>aTg	p.T1234M	PHRF1_uc010qwc.2_Missense_Mutation_p.T1233M|PHRF1_uc010qwd.2_Missense_Mutation_p.T1232M|PHRF1_uc010qwe.2_Missense_Mutation_p.T1230M|PHRF1_uc009ybz.1_Missense_Mutation_p.T1024M|PHRF1_uc009yca.2_Non-coding_Transcript	NM_020901	NP_065952	Q9P1Y6	PHRF1_HUMAN	Homo sapiens PHD and ring finger domains 1 (PHRF1), mRNA.	1234							RNA polymerase binding|zinc ion binding			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						GAGGTGGCTACGGCCGACAAG	0.692000														33			9		0	0	1	0	0
COL6A1	1291	broad.mit.edu	37	21	47422182	47422182	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:47422182C>T	uc002zhu.1	+	31	2219	c.2117C>T	c.(2116-2118)gCc>gTc	p.A706V	COL6A1_uc002zhv.1_Missense_Mutation_p.A37V	NM_001848	NP_001839	P12109	CO6A1_HUMAN	Homo sapiens collagen, type VI, alpha 1 (COL6A1), mRNA.	706	C-terminal globular domain.|VWFA 2.				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)	ACGGGGGAGGCCCTGCAGTAC	0.682000														0			4		0	0	1	0	0
ZNF621	285268	broad.mit.edu	37	3	40574286	40574286	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:40574286C>A	uc003ckm.2	+	4	1241	c.1025C>A	c.(1024-1026)cCt>cAt	p.P342H	ZNF621_uc003ckn.2_Missense_Mutation_p.P342H|ZNF621_uc003cko.2_Missense_Mutation_p.P307H|ZNF621_uc011aze.1_Missense_Mutation_p.P334H	NM_001098414	NP_940886	Q6ZSS3	ZN621_HUMAN	Homo sapiens zinc finger protein 621 (ZNF621), transcript variant 2, mRNA.	342					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0515)|Kidney(284;0.0648)		AAATTGCACCCTGTGGAGAAG	0.507000														29			4		3.59834e-05	3.95114e-05	1	1	0
KIF12	113220	broad.mit.edu	37	9	116854674	116854674	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:116854674C>A	uc004bif.3	-	14	1579	c.1341G>T	c.(1339-1341)gaG>gaT	p.E447D	KIF12_uc004big.3_Non-coding_Transcript	NM_138424	NP_612433	Q96FN5	KIF12_HUMAN	Homo sapiens kinesin family member 12 (KIF12), mRNA.	580					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	17						AAGGTACCACCTCCTCCTCCG	0.602000														94			10		0.00829132	0.00860413	1	1	0
DDHD2	23259	broad.mit.edu	37	8	38099827	38099827	+	Nonsense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:38099827G>T	uc003xlc.3	+	6	972	c.772G>T	c.(772-774)Gaa>Taa	p.E258*	DDHD2_uc003xlb.3_Nonsense_Mutation_p.E258*|DDHD2_uc011lbl.1_Nonsense_Mutation_p.E70*	NM_001164232	NP_056029	O94830	DDHD2_HUMAN	Homo sapiens DDHD domain containing 2 (DDHD2), transcript variant 2, mRNA.	258					lipid catabolic process	centrosome	hydrolase activity|metal ion binding	p.Q257R(1)		endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)|urinary_tract(2)	28	Colorectal(12;0.000442)	all_lung(54;0.0657)|Lung NSC(58;0.175)	BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977)			GAAAGCCCAAGAAAATCAGCA	0.378000														44			5		3.59834e-05	3.95114e-05	1	1	0
ARMC4	55130	broad.mit.edu	37	10	28151500	28151500	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:28151500T>C	uc009xky.3	-	17	2760	c.2662A>G	c.(2662-2664)Aat>Gat	p.N888D	ARMC4_uc010qds.2_Missense_Mutation_p.N413D|ARMC4_uc010qdt.2_Missense_Mutation_p.N580D|ARMC4_uc001itz.3_Missense_Mutation_p.N888D	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN	Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA.	888							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						TTCAGTAAATTGACAATAAGT	0.343000														34			25		0	0	1	0	0
ECT2	1894	broad.mit.edu	37	3	172525559	172525559	+	Splice_Site	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:172525559G>A	uc003fii.2	+	21	2291	c.2153_splice	c.e21-1	p.D718_splice	ECT2_uc010hwv.1_Splice_Site_p.D749_splice|ECT2_uc003fih.2_Splice_Site_p.D717_splice|ECT2_uc003fij.1_Splice_Site_p.D718_splice|ECT2_uc003fik.1_Splice_Site_p.D718_splice|ECT2_uc003fil.1_Splice_Site_p.D749_splice|ECT2_uc003fim.1_Splice_Site_p.D17_splice	NM_018098	NP_060568	Q9H8V3	ECT2_HUMAN	Homo sapiens epithelial cell transforming sequence 2 oncogene (ECT2), mRNA.	718	PH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			TGGAACCCTAGATTGCCATAA	0.398000														55			25		0	0	1	0	0
FIZ1	84922	broad.mit.edu	37	19	56103882	56103882	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:56103882G>A	uc002qli.4	-	2	1515	c.1425C>T	c.(1423-1425)tgC>tgT	p.C475C	FIZ1_uc002qlj.4_Silent_p.C475C	NM_032836	NP_116225	Q96SL8	FIZ1_HUMAN	Homo sapiens FLT3-interacting zinc finger 1 (FIZ1), mRNA.	475					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein kinase binding|receptor binding|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)	11			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		AGCCCTTGCCGCAGATGTGGC	0.672000														5			5		0	0	1	0	0
VTI1A	143187	broad.mit.edu	37	10	114575091	114575091	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:114575091C>T	uc001kzz.3	+	7	979	c.603C>T	c.(601-603)atC>atT	p.I201I		NM_145206	NP_660207	Q96AJ9	VTI1A_HUMAN	Homo sapiens vesicle transport through interaction with t-SNAREs homolog 1A (yeast) (VTI1A), mRNA.	0					intracellular protein transport|retrograde transport, endosome to Golgi	SNARE complex	SNAP receptor activity|protein transporter activity		VTI1A/TCF7L2(8)	breast(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6		Colorectal(252;0.0314)|Breast(234;0.183)		Epithelial(162;0.0126)|all cancers(201;0.0487)		TAGGGATCATCGTGGTCATCA	0.458000			T	TCF7L2	colorectal									43			13		0	0	1	0	0
ERC2	26059	broad.mit.edu	37	3	56183009	56183009	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:56183009G>A	uc021wzo.1	-	3	1441	c.1301C>T	c.(1300-1302)aCc>aTc	p.T434I	ERC2_uc003dhr.1_Missense_Mutation_p.T434I	NM_015576	NP_056391	O15083	ERC2_HUMAN	Homo sapiens ELKS/RAB6-interacting/CAST family member 2 (ERC2), mRNA.	434						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		CCGTACCTTGGTCTTCATAAA	0.358000														55			41		0	0	1	0	0
ZZZ3	26009	broad.mit.edu	37	1	78041867	78041867	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:78041867A>G	uc001dhq.3	-	11	2693	c.2217T>C	c.(2215-2217)caT>caC	p.H739H	ZZZ3_uc001dhr.3_Silent_p.H245H|ZZZ3_uc001dhp.3_Silent_p.H738H	NM_015534	NP_056349	Q8IYH5	ZZZ3_HUMAN	Homo sapiens zinc finger, ZZ-type containing 3 (ZZZ3), mRNA.	739					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						GCTTAAAGAGATGCTTATTAA	0.363000														173			12		0	0	1	0	0
KIAA1919	91749	broad.mit.edu	37	6	111587679	111587679	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:111587679G>A	uc003puv.4	+	3	1336	c.914G>A	c.(913-915)aGc>aAc	p.S305N		NM_153369	NP_699200	Q5TF39	NAGT1_HUMAN	Homo sapiens KIAA1919 (KIAA1919), mRNA.	305					carbohydrate transport|sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			large_intestine(3)|lung(2)|ovary(4)|skin(3)	12		all_cancers(87;2.35e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.055)|all cancers(137;0.0871)|Epithelial(106;0.0884)		AACATTGGCAGCCTGACTTCA	0.468000														163			17		0	0	1	0	0
MAMLD1	10046	broad.mit.edu	37	X	149639226	149639226	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:149639226G>A	uc011mxu.2	+	2	1616	c.1306G>A	c.(1306-1308)Gag>Aag	p.E436K	MAMLD1_uc011mxt.1_Missense_Mutation_p.E423K|MAMLD1_uc004fee.2_Missense_Mutation_p.E461K|MAMLD1_uc011mxv.2_Missense_Mutation_p.E436K|MAMLD1_uc011mxw.2_Missense_Mutation_p.E388K	NM_001177465	NP_001170936	Q13495	MAMD1_HUMAN	Homo sapiens mastermind-like domain containing 1 (MAMLD1), transcript variant 1, mRNA.	461					male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		p.E461Q(1)|p.E436Q(1)|p.E388Q(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					CTATCGCCCAGAGAAGCTCTC	0.572000														80			31		0	0	1	0	0
SETBP1	26040	broad.mit.edu	37	18	42281508	42281508	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:42281508G>A	uc010dni.3	+	1	493	c.197G>A	c.(196-198)gGg>gAg	p.G66E	SETBP1_uc002lay.3_Missense_Mutation_p.G66E	NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	Homo sapiens SET binding protein 1 (SETBP1), transcript variant 1, mRNA.	66						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		CTAGGCTCAGGGCGGGATGTG	0.562000									Schinzel-Giedion syndrome					34			18		0	0	1	0	0
PSD	5662	broad.mit.edu	37	10	104176346	104176346	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:104176346C>T	uc001kvg.1	-	1	977	c.450G>A	c.(448-450)cgG>cgA	p.R150R	PSD_uc001kvh.1_5'UTR|PSD_uc009xxd.1_Silent_p.R150R|PSD_uc001kvi.1_Silent_p.R150R|FBXL15_uc001kvj.1_5'Flank	NM_002779	NP_002770	A5PKW4	PSD1_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing (PSD), mRNA.	150	Pro-rich.				regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		ATGCTTCCAGCCGTAACTTCC	0.667000														19			11		0	0	1	0	0
BIRC6	57448	broad.mit.edu	37	2	32613827	32613827	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:32613827G>T	uc010ezu.3	+	3	789	c.655G>T	c.(655-657)Gtt>Ttt	p.V219F		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	Homo sapiens baculoviral IAP repeat containing 6 (BIRC6), mRNA.	219					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					GTGGGCCACAGTTACATTTCA	0.358000														25			7		8.12818e-05	8.84769e-05	1	1	0
PRRC2A	7916	broad.mit.edu	37	6	31595899	31595899	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31595899G>A	uc003nvb.4	+	11	1897	c.1648G>A	c.(1648-1650)Gca>Aca	p.A550T	PRRC2A_uc011dnv.1_Intron|PRRC2A_uc003nvc.4_Missense_Mutation_p.A550T	NM_080686	NP_542417	P48634	PRC2A_HUMAN	Homo sapiens proline-rich coiled-coil 2A (PRRC2A), transcript variant 1, mRNA.	550	2 X type B repeats.|4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						TGAAGAGCCAGCACAGGCCCC	0.612000														30			31		0	0	1	0	0
PTGIS	5740	broad.mit.edu	37	20	48140673	48140673	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:48140673G>A	uc002xut.3	-	5	831	c.777C>T	c.(775-777)taC>taT	p.Y259Y	PTGIS_uc010zyi.2_Silent_p.Y120Y	NM_000961	NP_000952	Q16647	PTGIS_HUMAN	Homo sapiens prostaglandin I2 (prostacyclin) synthase (PTGIS), mRNA.	259					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|prostaglandin-I synthase activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Phenylbutazone(DB00812)	GGTGCAGCAGGTAACTCTCCA	0.617000														45			22		0	0	1	0	0
PPARGC1A	10891	broad.mit.edu	37	4	23815351	23815351	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:23815351C>T	uc003gqs.3	-	7	1875	c.1755G>A	c.(1753-1755)agG>agA	p.R585R	PPARGC1A_uc003gqt.3_Non-coding_Transcript|PPARGC1A_uc011bxp.1_Non-coding_Transcript|PPARGC1A_uc010ier.1_Non-coding_Transcript	NM_013261	NP_037393	Q9UBK2	PRGC1_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator 1 alpha (PPARGC1A), mRNA.	585	Arg/Ser-rich.				RNA splicing|androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mRNA processing|mitochondrion organization|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|RNA binding|RNA polymerase II transcription cofactor activity|androgen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|transcription factor binding			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				TTGATCTTGACCTGGAATATG	0.428000														24			13		0	0	1	0	0
CDC42BPA	8476	broad.mit.edu	37	1	227300398	227300398	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:227300398G>A	uc001hqr.3	-	12	2807	c.1864C>T	c.(1864-1866)Cgc>Tgc	p.R622C	CDC42BPA_uc001hqs.3_Intron|CDC42BPA_uc009xes.3_Missense_Mutation_p.R622C|CDC42BPA_uc010pvs.2_Missense_Mutation_p.R622C	NM_003607	NP_003598	Q5VT25	MRCKA_HUMAN	Homo sapiens CDC42 binding protein kinase alpha (DMPK-like) (CDC42BPA), transcript variant B, mRNA.	622					actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				TCTGTTCTGCGCAGTTCTTGC	0.413000														129			56		0	0	1	0	0
CAND1	55832	broad.mit.edu	37	12	67675766	67675766	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:67675766G>T	uc001stn.2	+	1	582	c.145G>T	c.(145-147)Gta>Tta	p.V49L		NM_018448	NP_060918	Q86VP6	CAND1_HUMAN	Homo sapiens cullin-associated and neddylation-dissociated 1 (CAND1), mRNA.	49					cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		TGAAAGGAAAGTAGTGAAAAT	0.313000														65			7		1.12685e-05	1.25391e-05	1	1	0
SH3RF2	153769	broad.mit.edu	37	5	145317698	145317698	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:145317698C>T	uc003lnt.3	+	1	445	c.207C>T	c.(205-207)ctC>ctT	p.L69L	SH3RF2_uc011dbl.1_Silent_p.L69L	NM_152550	NP_689763	Q8TEC5	SH3R2_HUMAN	Homo sapiens SH3 domain containing ring finger 2 (SH3RF2), mRNA.	69							ligase activity|protein phosphatase 1 binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACCTGCTGCTCGTGCGCCTTC	0.622000														31			31		0	0	1	0	0
SLC44A1	23446	broad.mit.edu	37	9	108120689	108120689	+	Silent	SNP	G	A	A	rs146574269		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:108120689G>A	uc004bcn.3	+	6	956	c.735G>A	c.(733-735)acG>acA	p.T245T	SLC44A1_uc004bco.1_Silent_p.T37T	NM_080546	NP_536856	Q8WWI5	CTL1_HUMAN	Homo sapiens solute carrier family 44, member 1 (SLC44A1), mRNA.	245						integral to membrane|mitochondrial outer membrane|plasma membrane	choline transmembrane transporter activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	38					Choline(DB00122)	GGATCTTAACGATTCTGGTCA	0.323000														67			40		0	0	1	0	0
UTP18	51096	broad.mit.edu	37	17	49365522	49365522	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:49365522C>A	uc002its.3	+	10	1510	c.1461C>A	c.(1459-1461)atC>atA	p.I487I		NM_016001	NP_057085	Q9Y5J1	UTP18_HUMAN	Homo sapiens UTP18 small subunit (SSU) processome component homolog (yeast) (UTP18), mRNA.	487					rRNA processing	nucleolus				breast(2)|endometrium(3)|kidney(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16			BRCA - Breast invasive adenocarcinoma(22;2.09e-07)			CTACAGAAATCTTGGCAATTG	0.313000														36			23		1.22574e-08	1.44238e-08	1	1	0
LRP1	4035	broad.mit.edu	37	12	57570895	57570895	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57570895G>A	uc001snd.3	+	24	4529	c.4063G>A	c.(4063-4065)Gca>Aca	p.A1355T		NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	1355					aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	AGACTGGATTGCAGGCAACAT	0.582000														72			5		0	0	1	0	0
ABLIM1	3983	broad.mit.edu	37	10	116196050	116196050	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:116196050T>C	uc021pyx.1	-	22	2405	c.2306A>G	c.(2305-2307)aAc>aGc	p.N769S	ABLIM1_uc021pyw.1_3'UTR|ABLIM1_uc021pyy.1_Missense_Mutation_p.N734S|ABLIM1_uc021pyz.1_3'UTR|ABLIM1_uc021pza.1_Missense_Mutation_p.N709S|ABLIM1_uc021pyv.1_3'UTR|ABLIM1_uc021pyu.1_Missense_Mutation_p.N446S	NM_002313	NP_002304	O14639	ABLM1_HUMAN	Homo sapiens actin binding LIM protein 1 (ABLIM1), transcript variant 1, mRNA.	769	HP.				axon guidance|cytoskeleton organization|organ morphogenesis|visual perception	actin cytoskeleton|cytoplasm	actin binding|zinc ion binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		CTTCATGTCGTTGCGTCTCCA	0.453000														88			7		0	0	1	0	0
ZFYVE26	23503	broad.mit.edu	37	14	68222729	68222729	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:68222729G>A	uc001xka.2	-	35	6861	c.6722C>T	c.(6721-6723)gCc>gTc	p.A2241V	ZFYVE26_uc010tsz.1_Non-coding_Transcript|ZFYVE26_uc001xkb.3_Missense_Mutation_p.A87V	NM_015346	NP_056161	Q68DK2	ZFY26_HUMAN	Homo sapiens zinc finger, FYVE domain containing 26 (ZFYVE26), mRNA.	2241					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		ATGTTGGCAGGCAGCAATCAA	0.453000														273			182		0	0	1	0	0
MAN2A2	4122	broad.mit.edu	37	15	91453772	91453772	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:91453772G>A	uc010bnz.2	+	10	1734	c.1619G>A	c.(1618-1620)cGc>cAc	p.R540H	MAN2A2_uc010boa.3_Missense_Mutation_p.R582H|MAN2A2_uc002bqc.3_Missense_Mutation_p.R540H|MAN2A2_uc010uql.2_Missense_Mutation_p.R202H|MAN2A2_uc010uqm.2_Missense_Mutation_p.R119H|MAN2A2_uc010uqn.1_5'Flank	NM_006122	NP_006113	P49641	MA2A2_HUMAN	Homo sapiens mannosidase, alpha, class 2A, member 2 (MAN2A2), mRNA.	540					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			GCTCACGCTCGCCGCTCTGGT	0.627000														28			17		0	0	1	0	0
PTPN9	5780	broad.mit.edu	37	15	75809691	75809691	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:75809691C>A	uc002bal.3	-	4	945	c.437G>T	c.(436-438)aGg>aTg	p.R146M		NM_002833	NP_002824	P43378	PTN9_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 9 (PTPN9), mRNA.	146	CRAL-TRIO.					cytoplasmic part	non-membrane spanning protein tyrosine phosphatase activity|protein binding			central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CAGTCCATTCCTCTGAGTTTC	0.398000														44			4		0.00909568	0.00940365	1	1	0
ZNF449	203523	broad.mit.edu	37	X	134494386	134494386	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:134494386G>T	uc004eys.3	+	4	1107	c.942G>T	c.(940-942)aaG>aaT	p.K314N	ZNF449_uc004eyt.3_Missense_Mutation_p.K194N|ZNF449_uc004eyu.3_Missense_Mutation_p.K120N	NM_152695	NP_689908	Q6P9G9	ZN449_HUMAN	Homo sapiens zinc finger protein 449 (ZNF449), mRNA.	314					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					AACCCCACAAGAAAAAGAGTC	0.468000														34			30		7.01153e-11	8.50817e-11	1	1	0
ARSA	410	broad.mit.edu	37	22	51065374	51065374	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:51065374G>A	uc003bna.4	-	2	576	c.314C>T	c.(313-315)gCg>gTg	p.A105V	ARSA_uc021wsd.1_Missense_Mutation_p.A191V|ARSA_uc021wse.1_Missense_Mutation_p.A191V|ARSA_uc021wsf.1_Missense_Mutation_p.A191V|ARSA_uc003bmz.4_Missense_Mutation_p.A189V|ARSA_uc010hbf.3_3'UTR	NM_001085428	NP_001078897	P15289	ARSA_HUMAN	Homo sapiens arylsulfatase A (ARSA), transcript variant 5, mRNA.	189						lysosome	arylsulfatase activity|calcium ion binding|cerebroside-sulfatase activity			endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|skin(1)	9		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	Micafungin(DB01141)	GGGGGGCTGCGCCTCCACGGA	0.677000														52			38		0	0	1	0	0
FAM19A2	338811	broad.mit.edu	37	12	62147416	62147416	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:62147416A>C	uc001sqw.3	-	3	1953	c.371T>G	c.(370-372)gTc>gGc	p.V124G	FAM19A2_uc001sqv.3_Non-coding_Transcript|FAM19A2_uc001sqx.3_Missense_Mutation_p.V124G|FAM19A2_uc001sqy.3_Non-coding_Transcript	NM_178539	NP_848634	Q8N3H0	F19A2_HUMAN	Homo sapiens family with sequence similarity 19 (chemokine (C-C motif)-like), member A2 (FAM19A2), mRNA.	124						cytoplasm				endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	15			GBM - Glioblastoma multiforme(1;0.00484)	GBM - Glioblastoma multiforme(3;0.02)		AGTTGTTTTGACTTTATTCCC	0.433000														42			25		0	0	1	0	0
ZNF165	7718	broad.mit.edu	37	6	28053407	28053407	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:28053407A>G	uc021yro.1	+	1	976	c.149A>G	c.(148-150)cAg>cGg	p.Q50R	ZNF165_uc003nkh.3_Missense_Mutation_p.Q50R|ZNF165_uc003nki.4_Missense_Mutation_p.Q50R	NM_003447	NP_003438	P49910	ZN165_HUMAN	Homo sapiens zinc finger protein 165 (ZNF165), mRNA.	50					viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CTCTGCAGGCAGCTTTTTAGG	0.522000														116			65		0	0	1	0	0
HHIP	64399	broad.mit.edu	37	4	145573764	145573764	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:145573764C>A	uc003ijs.2	+	1	967	c.287C>A	c.(286-288)tCt>tAt	p.S96Y	HHIP_uc003ijr.2_Missense_Mutation_p.S96Y	NM_022475	NP_071920	Q96QV1	HHIP_HUMAN	Homo sapiens hedgehog interacting protein (HHIP), mRNA.	96						cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding	p.F95C(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		CAGATATTTTCTGTTACCAAC	0.343000														49			15		1.02788e-11	1.25893e-11	1	1	0
SYT6	148281	broad.mit.edu	37	1	114680281	114680281	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:114680281G>A	uc021osa.1	-	2	985	c.907C>T	c.(907-909)Ccc>Tcc	p.P303S	SYT6_uc021orz.1_Missense_Mutation_p.P218S|SYT6_uc001eev.3_Missense_Mutation_p.P218S	NM_001253772	NP_001240701	Q5T7P8	SYT6_HUMAN	Homo sapiens synaptotagmin VI (SYT6), transcript variant 1, mRNA.	303	C2 1.				acrosomal vesicle exocytosis	cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane	clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity			central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCCTCATAGGGCACAGGGAAG	0.567000														32			10		0	0	1	0	0
ABCA3	21	broad.mit.edu	37	16	2369603	2369603	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:2369603C>A	uc002cpy.1	-	7	1564	c.852G>T	c.(850-852)caG>caT	p.Q284H	ABCA3_uc010bsk.1_Missense_Mutation_p.Q284H|ABCA3_uc010bsl.1_Missense_Mutation_p.Q284H	NM_001089	NP_001080	Q99758	ABCA3_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 3 (ABCA3), mRNA.	284					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				TTTCCTTCTCCTGCACGACAG	0.607000														33			18		5.03518e-11	6.129e-11	1	1	0
C20orf72	92667	broad.mit.edu	37	20	17970728	17970728	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:17970728T>C	uc002wqh.3	+	4	1093	c.1011T>C	c.(1009-1011)atT>atC	p.I337I	C20orf72_uc010gco.3_Non-coding_Transcript|C20orf72_uc010gcp.3_Non-coding_Transcript	NM_052865	NP_443097	Q9BQP7	CT072_HUMAN	Homo sapiens chromosome 20 open reading frame 72 (C20orf72), mRNA.	337										breast(1)|large_intestine(2)|lung(2)|urinary_tract(2)	7						ACCAGAATATTCAGAAACCAG	0.418000														40			5		0	0	1	0	0
CLSTN2	64084	broad.mit.edu	37	3	140123471	140123471	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:140123471C>T	uc003etn.3	+	3	690	c.500C>T	c.(499-501)gCt>gTt	p.A167V	CLSTN2_uc003etm.2_Missense_Mutation_p.A167V	NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN	Homo sapiens calsyntenin 2 (CLSTN2), mRNA.	167	Cadherin 2.				homophilic cell adhesion	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						GCCTACAAGGCTGTTGTGACG	0.532000										HNSCC(16;0.037)				35			31		0	0	1	0	0
LGALS8	3964	broad.mit.edu	37	1	236702296	236702296	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:236702296A>G	uc001hxz.2	+	4	633	c.252A>G	c.(250-252)gaA>gaG	p.E84E	LGALS8_uc001hxw.2_Silent_p.E84E|LGALS8_uc001hxy.2_Silent_p.E84E|LGALS8_uc009xgg.2_Non-coding_Transcript|LGALS8_uc001hya.2_Silent_p.E84E|LGALS8_uc001hyc.2_Silent_p.E84E	NM_201543	NP_963838	O00214	LEG8_HUMAN	Homo sapiens lectin, galactoside-binding, soluble, 8 (LGALS8), transcript variant 2, mRNA.	84	Galectin 1.					cytoplasm|extracellular space	sugar binding			kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(5)	20	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.0253)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			TGATAAATGAAAAATGGGGAC	0.438000														36			44		0	0	1	0	0
C6orf211	79624	broad.mit.edu	37	6	151785753	151785753	+	Splice_Site	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:151785753G>T	uc003qok.1	+	4	817	c.558_splice	c.e4+1	p.Q186_splice	C6orf211_uc011ees.1_Splice_Site_p.Q67_splice	NM_024573	NP_078849	Q9H993	CF211_HUMAN	Homo sapiens chromosome 6 open reading frame 211 (C6orf211), mRNA.	186							protein binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(7)	15			BRCA - Breast invasive adenocarcinoma(37;0.183)	OV - Ovarian serous cystadenocarcinoma(155;5.27e-11)		AACTTCTGCAGGTAAATGTGA	0.279000														26			4		0.00024832	0.000267289	1	1	0
PPFIA1	8500	broad.mit.edu	37	11	70171029	70171029	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:70171029C>T	uc001opo.3	+	3	658	c.443C>T	c.(442-444)gCg>gTg	p.A148V	PPFIA1_uc001opn.2_Missense_Mutation_p.A148V|PPFIA1_uc001opp.3_Non-coding_Transcript|PPFIA1_uc001opq.1_5'Flank	NM_003626	NP_003617	Q13136	LIPA1_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1 (PPFIA1), transcript variant 2, mRNA.	148					cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			AAGAGACAAGCGCAGTCTCCA	0.493000														126			66		0	0	1	0	0
CKAP4	10970	broad.mit.edu	37	12	106633424	106633424	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:106633424G>A	uc001tlk.3	-	1	1271	c.1187C>T	c.(1186-1188)tCg>tTg	p.S396L		NM_006825	NP_006816	Q07065	CKAP4_HUMAN	Homo sapiens cytoskeleton-associated protein 4 (CKAP4), mRNA.	396						ER-Golgi intermediate compartment membrane|integral to membrane|membrane fraction		p.S396S(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|pancreas(1)|urinary_tract(1)	20						AAAGGCTTCCGAGTGTCTGAA	0.637000														32			29		0	0	1	0	0
RNF32	140545	broad.mit.edu	37	7	156468554	156468554	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:156468554G>A	uc003wmo.3	+	7	1079	c.849G>A	c.(847-849)gtG>gtA	p.V283V	RNF32_uc010lqm.3_Silent_p.V283V|RNF32_uc003wmq.3_Silent_p.V283V|RNF32_uc003wmr.3_Silent_p.V283V|RNF32_uc003wmu.3_Non-coding_Transcript	NM_030936	NP_112198	Q9H0A6	RNF32_HUMAN	Homo sapiens ring finger protein 32 (RNF32), transcript variant 3, mRNA.	283						aggresome|endosome	protein binding|zinc ion binding			cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(2)	15	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		AAATCCAAGTGCAGGTAGGTT	0.527000														52			18		0	0	1	0	0
EPS8L1	54869	broad.mit.edu	37	19	55597258	55597258	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:55597258G>T	uc002qis.4	+	14	1539	c.1435G>T	c.(1435-1437)Gca>Tca	p.A479S	EPS8L1_uc010ess.1_Missense_Mutation_p.A493S|EPS8L1_uc010yfr.2_Missense_Mutation_p.A415S|EPS8L1_uc010esu.1_Non-coding_Transcript|EPS8L1_uc002qiu.3_Missense_Mutation_p.A352S|EPS8L1_uc002qiv.3_Missense_Mutation_p.A157S|EPS8L1_uc002qiw.3_Missense_Mutation_p.A258S	NM_133180	NP_573441	Q8TE68	ES8L1_HUMAN	Homo sapiens EPS8-like 1 (EPS8L1), transcript variant 1, mRNA.	479	SH3.					cytoplasm				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		GTCAGAGACAGCAGGAAAATG	0.577000														22			12		4.3838e-07	5.01911e-07	1	1	0
GPR64	10149	broad.mit.edu	37	X	19013148	19013148	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:19013148G>T	uc004cyx.3	-	27	2977	c.2735C>A	c.(2734-2736)aCt>aAt	p.T912N	GPR64_uc004cze.3_Missense_Mutation_p.T882N|GPR64_uc004cza.3_Missense_Mutation_p.T890N|GPR64_uc004czf.3_Missense_Mutation_p.T874N|GPR64_uc004cyy.3_Missense_Mutation_p.T909N|GPR64_uc004czc.3_Missense_Mutation_p.T896N|GPR64_uc004cyz.3_Missense_Mutation_p.T898N|GPR64_uc004czb.3_Intron|GPR64_uc004czd.3_Missense_Mutation_p.T888N|GPR64_uc004cyw.3_Intron|GPR64_uc010nfj.3_Missense_Mutation_p.T793N	NM_001079858	NP_001073327	Q8IZP9	GPR64_HUMAN	Homo sapiens G protein-coupled receptor 64 (GPR64), transcript variant 1, mRNA.	912					neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					TAAACCATTAGTAGCAGTTTT	0.423000														83			40		5.43694e-19	6.98762e-19	1	1	0
MIB2	142678	broad.mit.edu	37	1	1563491	1563491	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:1563491C>T	uc001agg.3	+	13	2163	c.2118C>T	c.(2116-2118)atC>atT	p.I706I	MIB2_uc001agh.3_Silent_p.I692I|MIB2_uc001agi.3_Silent_p.I702I|MIB2_uc001agj.3_Silent_p.I490I|MIB2_uc001agk.3_Silent_p.I641I|MIB2_uc001agl.2_Silent_p.I605I|MIB2_uc001agm.3_Silent_p.I526I|MIB2_uc010nyq.2_Silent_p.I605I|MIB2_uc009vkh.3_Silent_p.I455I|MIB2_uc001agn.3_Silent_p.I281I|MIB2_uc001ago.3_5'Flank	NM_080875	NP_543151	Q96AX9	MIB2_HUMAN	Homo sapiens mindbomb homolog 2 (Drosophila) (MIB2), transcript variant 1, mRNA.	649					Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade	endosome	actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1)	18	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		TGCCAAACATCGATGTTACCG	0.662000														12			10		0	0	1	0	0
DPH1	1801	broad.mit.edu	37	17	1945107	1945107	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:1945107G>T	uc010vqs.2	+	10	1324	c.1318G>T	c.(1318-1320)Gac>Tac	p.D440Y	DPH1_uc002fts.3_Missense_Mutation_p.D430Y|DPH1_uc002ftt.3_Missense_Mutation_p.D414Y|DPH1_uc010cjx.3_Missense_Mutation_p.D290Y|DPH1_uc002ftv.3_Missense_Mutation_p.D186Y|DPH1_uc002ftw.3_Missense_Mutation_p.D158Y|OVCA2_uc002ftx.3_5'Flank	NM_001383	NP_001374	Q9BZG8	DPH1_HUMAN	Homo sapiens DPH1 homolog (S. cerevisiae) (DPH1), mRNA.	430					peptidyl-diphthamide biosynthetic process from peptidyl-histidine|translation	cytoplasm|nucleus				endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	17						GGCTTGCGAGGACTGCAGCTG	0.697000														4			4		0.00909568	0.00940365	1	1	0
OSBP2	23762	broad.mit.edu	37	22	31302206	31302206	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:31302206G>A	uc003aiy.1	+	13	2735	c.2631G>A	c.(2629-2631)acG>acA	p.T877T	OSBP2_uc011ala.1_Silent_p.T711T|OSBP2_uc010gwc.1_Silent_p.T704T|OSBP2_uc011alb.1_Missense_Mutation_p.A871T|OSBP2_uc003aiz.1_Silent_p.T876T|OSBP2_uc003aja.1_Silent_p.T510T|OSBP2_uc011alc.2_Silent_p.T620T|OSBP2_uc011ald.1_Silent_p.T421T|OSBP2_uc010gwd.1_Missense_Mutation_p.A361T	NM_030758	NP_110385	Q969R2	OSBP2_HUMAN	Homo sapiens oxysterol binding protein 2 (OSBP2), transcript variant 1, mRNA.	877					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						ATGCCTACACGCCACTGTGGT	0.647000														50			4		0	0	1	0	0
SSBP2	23635	broad.mit.edu	37	5	80946145	80946145	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:80946145C>T	uc003khp.3	-	1	287	c.76G>A	c.(76-78)Gta>Ata	p.V26I	SSBP2_uc003khn.3_5'UTR|SSBP2_uc011ctr.2_Missense_Mutation_p.V26I|SSBP2_uc003kho.3_Missense_Mutation_p.V26I|SSBP2_uc011ctp.2_Missense_Mutation_p.V26I|SSBP2_uc011ctq.2_Missense_Mutation_p.V26I	NM_012446	NP_036578	P81877	SSBP2_HUMAN	Homo sapiens single-stranded DNA binding protein 2 (SSBP2), mRNA.	26	LisH.				regulation of transcription, DNA-dependent	cytoplasm|nucleus	single-stranded DNA binding	p.V26I(2)	SSBP2/JAK2(4)	central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10		Lung NSC(167;0.00154)|all_lung(232;0.00179)|Ovarian(174;0.0338)		OV - Ovarian serous cystadenocarcinoma(54;1.07e-41)|Epithelial(54;2.79e-35)|all cancers(79;1.18e-29)		TATTCATATACGTAGAGTGCT	0.284000														9			4		0	0	1	0	0
ZNF468	90333	broad.mit.edu	37	19	53345338	53345338	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:53345338T>C	uc002qaf.3	-	3	360	c.209A>G	c.(208-210)cAc>cGc	p.H70R	ZNF468_uc002qae.3_Missense_Mutation_p.H17R|ZNF468_uc021uzb.1_Missense_Mutation_p.H17R	NM_001008801	NP_954583	Q5VIY5	ZN468_HUMAN	Homo sapiens zinc finger protein 468 (ZNF468), transcript variant 2, mRNA.	70	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(3)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(134;0.0358)		TGTCCCTGTGTGGATCACTTC	0.388000														138			10		0	0	1	0	0
OR10A6	390093	broad.mit.edu	37	11	7949989	7949989	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:7949989C>A	uc010rbh.2	-	0	221	c.221G>T	c.(220-222)aGt>aTt	p.S74I		NM_001004461	NP_001004461	Q8NH74	O10A6_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 6 (OR10A6), mRNA.	74					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AATAACTGCACTGAAACTCAG	0.428000														69			63		5.82218e-30	7.6779e-30	1	1	0
TMEM92	162461	broad.mit.edu	37	17	48356668	48356668	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:48356668G>A	uc002iqn.2	+	5	589	c.479G>A	c.(478-480)tGa>tAa	p.*160*	TMEM92_uc021tzz.1_Silent_p.*160*	NM_001168215	NP_694961	Q6UXU6	TMM92_HUMAN	Homo sapiens transmembrane protein 92 (TMEM92), transcript variant 2, mRNA.	0						integral to membrane				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(1)	7						CCGGCCTTCTGAGTCACCTCC	0.607000														99			7		0	0	1	0	0
OSR1	130497	broad.mit.edu	37	2	19553015	19553015	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:19553015G>T	uc002rdc.3	-	1	855	c.552C>A	c.(550-552)ttC>ttA	p.F184L		NM_145260	NP_660303	Q8TAX0	OSR1_HUMAN	Homo sapiens odd-skipped related 1 (Drosophila) (OSR1), mRNA.	184					chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|heart development|mesangial cell development|mesonephric duct morphogenesis|metanephric cap mesenchymal cell proliferation involved in metanephros development|metanephric glomerulus vasculature development|metanephric interstitial cell development|metanephric mesenchymal cell differentiation|metanephric nephron tubule development|metanephric smooth muscle tissue development|middle ear morphogenesis|negative regulation of apoptosis|negative regulation of nephron tubule epithelial cell differentiation|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|pattern specification involved in metanephros development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of gastrulation|positive regulation of transcription from RNA polymerase II promoter|pronephros development|renal vesicle progenitor cell differentiation|specification of anterior mesonephric tubule identity|specification of posterior mesonephric tubule identity|stem cell differentiation|transcription, DNA-dependent|ureter urothelium development|ureteric bud development	nucleolus	nucleic acid binding|zinc ion binding			breast(1)|large_intestine(2)|lung(4)|ovary(1)	8	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	Acute lymphoblastic leukemia(84;0.221)				AGGACTTGGTGAAGTGGCGGC	0.562000														63			36		1.7489e-18	2.24252e-18	1	1	0
KIAA1244	57221	broad.mit.edu	37	6	138584261	138584261	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:138584261G>A	uc003qhu.3	+	11	1812	c.1641G>A	c.(1639-1641)acG>acA	p.T547T		NM_020340	NP_065073	Q5TH69	BIG3_HUMAN	Homo sapiens KIAA1244 (KIAA1244), mRNA.	547					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		GTAAGGAGACGCTGAGCAAAG	0.542000														22			6		0	0	1	0	0
KIAA0922	23240	broad.mit.edu	37	4	154525057	154525057	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:154525057G>A	uc010ipp.3	+	24	2945	c.2893G>A	c.(2893-2895)Gca>Aca	p.A965T	KIAA0922_uc003inm.4_Missense_Mutation_p.A964T|KIAA0922_uc010ipq.3_Missense_Mutation_p.A733T	NM_001131007	NP_001124479	A2VDJ0	T131L_HUMAN	Homo sapiens KIAA0922 (KIAA0922), transcript variant 1, mRNA.	964						integral to membrane				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				CCAGAATGCTGCAAAGAGGAG	0.498000														29			5		0	0	1	0	0
KIAA0913	23053	broad.mit.edu	37	10	75561190	75561190	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:75561190C>T	uc001jvj.3	+	25	5590	c.5335C>T	c.(5335-5337)Cga>Tga	p.R1779*	KIAA0913_uc001jve.3_Silent_p.N1814N|KIAA0913_uc009xrl.3_Silent_p.N1809N|KIAA0913_uc001jvf.3_Silent_p.N1627N|KIAA0913_uc001jvh.3_Non-coding_Transcript|KIAA0913_uc001jvi.3_Silent_p.N1236N|KIAA0913_uc010qkr.2_Silent_p.N1224N	NM_001242488	NP_001229417	A7E2V4	K0913_HUMAN	Homo sapiens KIAA0913 (KIAA0913), transcript variant 3, mRNA.	0							zinc ion binding			breast(3)|cervix(1)|endometrium(6)|kidney(3)|lung(6)	19	Prostate(51;0.0112)					TGCAGTTCAACGACATCCTAC	0.577000														21			11		0	0	1	0	0
SLC45A2	51151	broad.mit.edu	37	5	33984677	33984677	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:33984677G>A	uc003jid.3	-	0	104	c.12C>T	c.(10-12)aaC>aaT	p.N4N	SLC45A2_uc003jie.3_Silent_p.N4N|SLC45A2_uc003jif.4_Silent_p.N4N|SLC45A2_uc011coe.1_Silent_p.N4N	NM_016180	NP_057264	Q9UMX9	S45A2_HUMAN	Homo sapiens solute carrier family 45, member 2 (SLC45A2), transcript variant 1, mRNA.	4					melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception	integral to membrane|melanosome membrane				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						CCTGCCCACTGTTGCTACCCA	0.572000														29			20		0	0	1	0	0
FBXL2	25827	broad.mit.edu	37	3	33416806	33416806	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:33416806G>T	uc003cfp.3	+	9	755	c.684G>T	c.(682-684)caG>caT	p.Q228H	FBXL2_uc011axm.1_Non-coding_Transcript|FBXL2_uc011axn.1_Non-coding_Transcript|FBXL2_uc011axp.2_Missense_Mutation_p.Q144H|FBXL2_uc021wuy.1_Missense_Mutation_p.Q160H|FBXL2_uc011axo.2_Missense_Mutation_p.Q123H|FBXL2_uc011axr.1_Non-coding_Transcript|FBXL2_uc011axq.1_Non-coding_Transcript|FBXL2_uc011axs.1_Non-coding_Transcript	NM_012157	NP_036289	Q9UKC9	FBXL2_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 2 (FBXL2), transcript variant 1, mRNA.	228					interspecies interaction between organisms|proteolysis	cytoplasm|membrane	protein binding|ubiquitin-protein ligase activity			endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|urinary_tract(1)	15						GTGTGGTGCAGATATGCAGGG	0.532000														87			7		5.18039e-06	5.80246e-06	1	1	0
IK	3550	broad.mit.edu	37	5	140041219	140041219	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140041219G>A	uc003lgq.3	+	16	1538	c.1428G>A	c.(1426-1428)ggG>ggA	p.G476G		NM_006083	NP_006074	Q13123	RED_HUMAN	Homo sapiens IK cytokine, down-regulator of HLA II (IK), mRNA.	476					cell-cell signaling|immune response	extracellular space|nucleus|soluble fraction				large_intestine(1)	1		all_hematologic(541;4.8e-07)|all_lung(500;0.000434)|Lung NSC(810;0.00161)|Breast(839;0.128)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAAGAAGGGGCCCTTAGGCC	0.498000														7			3		0	0	1	0	0
THOC6	79228	broad.mit.edu	37	16	3075782	3075782	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:3075782T>C	uc002ctb.2	+	1	409	c.113T>C	c.(112-114)tTt>tCt	p.F38S	HCFC1R1_uc002csx.1_5'Flank|HCFC1R1_uc002csy.1_5'Flank|HCFC1R1_uc002csz.1_5'Flank|THOC6_uc002ctd.2_Missense_Mutation_p.F38S|THOC6_uc002cta.2_Missense_Mutation_p.F14S	NM_024339	NP_077315	Q86W42	THOC6_HUMAN	Homo sapiens THO complex 6 homolog (Drosophila) (THOC6), transcript variant 1, mRNA.	38					RNA splicing|intronless viral mRNA export from host nucleus|mRNA processing	THO complex part of transcription export complex	RNA binding			central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	13						TGTGGGAAGTTTCTGGCGGCT	0.582000														40			24		0	0	1	0	0
EBF2	64641	broad.mit.edu	37	8	25890667	25890667	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:25890667C>T	uc003xes.2	-	5	750	c.485G>A	c.(484-486)cGa>cAa	p.R162Q	DOCK5_uc003xek.3_Intron|EBF2_uc003xet.2_Missense_Mutation_p.R162Q	NM_022659	NP_073150	Q9HAK2	COE2_HUMAN	Homo sapiens early B-cell factor 2 (EBF2), mRNA.	162		Interaction with DNA (By similarity).			multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		TTCGCAGCATCGACTGTAGAT	0.398000														50			17		0	0	1	0	0
FLNB	2317	broad.mit.edu	37	3	58080562	58080562	+	Splice_Site	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:58080562G>T	uc003djj.2	+	5	953	c.788_splice	c.e5-1	p.G263_splice	FLNB_uc010hne.2_Splice_Site_p.G263_splice|FLNB_uc003djk.2_Splice_Site_p.G263_splice|FLNB_uc010hnf.2_Splice_Site_p.G263_splice|FLNB_uc003djl.2_Splice_Site_p.G94_splice|FLNB_uc003djm.2_Splice_Site_p.G94_splice	NM_001457	NP_001448	O75369	FLNB_HUMAN	Homo sapiens filamin B, beta (FLNB), transcript variant 2, mRNA.	263					actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		ACCTGTGGCAGGAATCGAGCC	0.562000														175			15		1.49906e-05	1.66078e-05	1	1	0
DOK3	79930	broad.mit.edu	37	5	176931382	176931382	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:176931382G>T	uc003mhk.3	-	5	1098	c.1093C>A	c.(1093-1095)Ctg>Atg	p.L365M	DOK3_uc003mhh.4_Intron|DOK3_uc003mhi.4_Intron|DOK3_uc003mhj.4_Intron	NM_024872	NP_079148	Q7L591	DOK3_HUMAN	Homo sapiens docking protein 3 (DOK3), transcript variant 1, mRNA.	365	Pro-rich.					cytoplasm|plasma membrane	insulin receptor binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|lung(7)	13	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			AGTAGCGGCAGGCTCTGGGGT	0.672000														19			4		0.000602214	0.000641151	1	1	0
YIPF4	84272	broad.mit.edu	37	2	32526473	32526473	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:32526473G>A	uc002rok.3	+	4	773	c.506G>A	c.(505-507)gGa>gAa	p.G169E		NM_032312	NP_115688	Q9BSR8	YIPF4_HUMAN	Homo sapiens Yip1 domain family, member 4 (YIPF4), mRNA.	169						endoplasmic reticulum|integral to membrane	protein binding	p.L168R(3)		kidney(2)|lung(3)|prostate(3)|skin(1)	9	Acute lymphoblastic leukemia(172;0.155)					CAAGTCCTTGGAGTTATAGGA	0.308000														58			40		0	0	1	0	0
MAP7	9053	broad.mit.edu	37	6	136698913	136698913	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:136698913G>T	uc011edg.2	-	6	1046	c.797C>A	c.(796-798)gCt>gAt	p.A266D	MAP7_uc011edf.2_Missense_Mutation_p.A229D|MAP7_uc010kgu.3_Missense_Mutation_p.A266D|MAP7_uc011edh.2_Missense_Mutation_p.A229D|MAP7_uc010kgv.3_Missense_Mutation_p.A266D|MAP7_uc010kgs.3_Missense_Mutation_p.A98D|MAP7_uc011edi.2_Missense_Mutation_p.A98D|MAP7_uc010kgq.2_Missense_Mutation_p.A150D|MAP7_uc003qgz.3_Missense_Mutation_p.A244D|MAP7_uc003qha.2_Missense_Mutation_p.A207D|MAP7_uc010kgr.2_Missense_Mutation_p.A98D|MAP7_uc010kgt.2_Missense_Mutation_p.A266D	NM_001198609	NP_001185538	Q14244	MAP7_HUMAN	Homo sapiens microtubule-associated protein 7 (MAP7), transcript variant 3, mRNA.	244					establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress	basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm	receptor binding|structural molecule activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		AGACAAGGCAGCTGTGCTTTT	0.517000														15			22		5.45024e-15	6.85306e-15	1	1	0
PPT2	9374	broad.mit.edu	37	6	32125413	32125413	+	Splice_Site	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:32125413G>T	uc003nzw.3	+	6	735	c.560_splice	c.e6-1	p.D187_splice	PPT2_uc003nzx.3_Splice_Site_p.D181_splice|PPT2_uc003nzz.3_Splice_Site_p.D181_splice|PPT2_uc021yvl.1_Splice_Site_p.D58_splice|EGFL8_uc003nzy.2_Splice_Site|PPT2_uc010jtu.1_Splice_Site_p.D181_splice	NM_138717	NP_005146	Q9UMR5	PPT2_HUMAN	Homo sapiens palmitoyl-protein thioesterase 2 (PPT2), transcript variant 2, mRNA.	181					protein modification process	lysosome	palmitoyl-(protein) hydrolase activity			NS(1)|endometrium(2)|large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1)	17						TTTGTACCCAGATCCCCACCA	0.498000														32			5		1.23904e-05	1.3743e-05	1	1	0
UGT1A1	54658	broad.mit.edu	37	2	234526813	234526813	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:234526813G>T	uc002vup.3	+	0	523	c.460G>T	c.(460-462)Ggc>Tgc	p.G154C	UGT1A1_uc010zmv.1_Missense_Mutation_p.G154C	NM_019076	NP_061949	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A8 (UGT1A8), mRNA.	157					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	TGATGCCTGTGGCTTAATTGT	0.438000														102			71		4.98926e-31	6.58961e-31	1	1	0
MTMR11	10903	broad.mit.edu	37	1	149903850	149903850	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:149903850G>T	uc001etl.4	-	11	1360	c.1109C>A	c.(1108-1110)tCt>tAt	p.S370Y	MTMR11_uc001etm.2_Missense_Mutation_p.S298Y|MTMR11_uc010pbm.1_Missense_Mutation_p.S342Y|MTMR11_uc010pbn.1_Missense_Mutation_p.S212Y	NM_001145862	NP_001139334	A4FU01	MTMRB_HUMAN	Homo sapiens myotubularin related protein 11 (MTMR11), transcript variant 1, mRNA.	370	Myotubularin phosphatase.						phosphatase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34	Breast(34;0.0009)|Ovarian(49;0.0377)|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)			AAGTATTACAGAACGAACCCT	0.478000														16			7		1.06961e-07	1.2399e-07	1	1	0
MAST4	375449	broad.mit.edu	37	5	66459617	66459617	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:66459617T>C	uc021xzk.1	+	28	4918	c.4610T>C	c.(4609-4611)gTg>gCg	p.V1537A	MAST4_uc003jut.2_Missense_Mutation_p.V1348A|MAST4_uc003juw.3_Missense_Mutation_p.V1276A|MAST4_uc003jux.3_5'Flank	NM_001164664	NP_001158136	O15021	MAST4_HUMAN	Homo sapiens microtubule associated serine/threonine kinase family member 4 (MAST4), transcript variant 3, mRNA.	1540						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		GCCAAGGTGGTGGTGAAGAAA	0.572000														5			6		0	0	1	0	0
GJA10	84694	broad.mit.edu	37	6	90605392	90605392	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:90605392T>C	uc011eaa.2	+	0	1205	c.1205T>C	c.(1204-1206)cTt>cCt	p.L402P		NM_032602	NP_115991	Q969M2	CXA10_HUMAN	Homo sapiens gap junction protein, alpha 10, 62kDa (GJA10), mRNA.	402					synaptic transmission	connexon complex|integral to membrane	gap junction channel activity	p.L402I(1)|p.D401Y(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1)	37		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.0915)		CTCACAGATCTTCATAGTCAC	0.547000														40			6		0	0	1	0	0
SFN	2810	broad.mit.edu	37	1	27190385	27190385	+	RNA	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:27190385A>G	uc010ofi.1	-	0		c.65T>C			BC016143_uc021ojq.1_Intron|SFN_uc001bnc.1_Missense_Mutation_p.T228A			P31947	1433S_HUMAN	Synthetic construct Homo sapiens gateway clone IMAGE:100016887 3' read SFN mRNA.						DNA damage response, signal transduction resulting in induction of apoptosis|negative regulation of caspase activity|release of cytochrome c from mitochondria	cytoplasm|extracellular space|nucleus	protein domain specific binding|protein kinase C inhibitor activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(2)	9		all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.1e-52)|Epithelial(14;2.31e-52)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)|GBM - Glioblastoma multiforme(114;0.0767)|Lung(427;0.215)		AGACAACCTGACACTGTGGAC	0.657000														58			4		0	0	1	0	0
KCNH7	90134	broad.mit.edu	37	2	163374646	163374646	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:163374646G>A	uc002uch.2	-	3	715	c.486C>T	c.(484-486)ttC>ttT	p.F162F	KCNH7_uc002uci.3_Silent_p.F162F	NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 7 (KCNH7), transcript variant 1, mRNA.	162					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	TCAGACCAGGGAATTTGAACC	0.388000														38			28		0	0	1	0	0
DDX21	9188	broad.mit.edu	37	10	70742539	70742539	+	Missense_Mutation	SNP	C	T	T	rs117087416	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:70742539C>T	uc001jov.1	+	14	2413	c.2323C>T	c.(2323-2325)Cgg>Tgg	p.R775W	DDX21_uc001jow.1_Missense_Mutation_p.R707W	NM_004728	NP_004719	Q9NR30	DDX21_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 21 (DDX21), mRNA.	775						nucleolus	ATP binding|ATP-dependent RNA helicase activity|RNA binding|protein binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	20						AGGCCAGAAGCGGAGTTTCAG	0.403000														48			22		0	0	1	0	0
ITPKC	80271	broad.mit.edu	37	19	41224105	41224105	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:41224105C>T	uc002oot.3	+	0	1098	c.1065C>T	c.(1063-1065)ggC>ggT	p.G355G	ADCK4_uc002oor.2_5'Flank|ADCK4_uc002oos.2_5'Flank	NM_025194	NP_079470	Q96DU7	IP3KC_HUMAN	Homo sapiens inositol-trisphosphate 3-kinase C (ITPKC), mRNA.	355						cytoplasm|nucleus	ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	14			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			GGGGCAGCGGCGGCTTCTCCT	0.692000														37			28		0	0	1	0	0
SFXN5	94097	broad.mit.edu	37	2	73249650	73249650	+	Splice_Site	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:73249650C>A	uc002siq.3	-	5	462	c.331_splice	c.e5+1	p.G111_splice	SFXN5_uc002sip.3_Splice_Site|SFXN5_uc002sio.3_Splice_Site_p.G3_splice|SFXN5_uc010yrc.2_Splice_Site|SFXN5_uc010fet.3_Splice_Site_p.G111_splice	NM_144579	NP_653180	Q8TD22	SFXN5_HUMAN	Homo sapiens sideroflexin 5 (SFXN5), nuclear gene encoding mitochondrial protein, mRNA.	111					iron ion homeostasis	integral to membrane	cation transmembrane transporter activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)	9						CAGGAGCTTACCTGACATTCT	0.547000														10			6		3.59834e-05	3.95114e-05	1	1	0
TSC22D3	1831	broad.mit.edu	37	X	107018362	107018362	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:107018362C>A	uc004enh.3	-	0	656	c.288G>T	c.(286-288)caG>caT	p.Q96H	TSC22D3_uc004eni.3_Missense_Mutation_p.Q96H|TSC22D3_uc004enj.3_Missense_Mutation_p.Q96H	NM_198057	NP_932174	Q99576	T22D3_HUMAN	Homo sapiens TSC22 domain family, member 3 (TSC22D3), transcript variant 1, mRNA.	0	Leucine-zipper.						sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(2)|lung(3)	6						AGAGCATGGTCTGGTCGATGT	0.607000														97			9		1.12685e-05	1.25391e-05	1	1	0
ATP1A1	476	broad.mit.edu	37	1	116929920	116929920	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:116929920C>A	uc001ege.3	+	3	533	c.194C>A	c.(193-195)tCt>tAt	p.S65Y	ATP1A1_uc010owv.1_Missense_Mutation_p.S34Y|ATP1A1_uc010oww.2_Missense_Mutation_p.S65Y|ATP1A1_uc010owx.2_Missense_Mutation_p.S34Y	NM_000701	NP_001153706	P05023	AT1A1_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 1 polypeptide (ATP1A1), transcript variant 1, mRNA.	65					ATP biosynthetic process	melanosome|sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity			NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021)	GGATTAACATCTGCTCGTGCA	0.507000														41			5		0.184627	0.186034	1	1	0
CD163L1	283316	broad.mit.edu	37	12	7531861	7531861	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:7531861C>T	uc010sge.2	-	8	2140	c.2114G>A	c.(2113-2115)gGa>gAa	p.G705E	CD163L1_uc001qsy.3_Missense_Mutation_p.G695E	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA.	695	SRCR 7.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						CCTGCTGCTTCCACCCACAAG	0.453000														19			12		0	0	1	0	0
ZC3H11A	9877	broad.mit.edu	37	1	203819731	203819731	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:203819731C>T	uc001hac.3	+	17	2644	c.2028C>T	c.(2026-2028)caC>caT	p.H676H	ZC3H11A_uc001had.3_Silent_p.H676H|ZC3H11A_uc001hae.3_Silent_p.H676H|ZC3H11A_uc001haf.3_Silent_p.H676H|ZC3H11A_uc010pqm.2_Silent_p.H622H	NM_014827	NP_055642	O75152	ZC11A_HUMAN	Homo sapiens zinc finger CCCH-type containing 11A (ZC3H11A), mRNA.	676							nucleic acid binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			TGGAGATGCACGCTGCTGTCA	0.502000														56			28		0	0	1	0	0
PLA2G4C	8605	broad.mit.edu	37	19	48608606	48608606	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:48608606C>A	uc010xzd.2	-	2	471	c.134G>T	c.(133-135)aGg>aTg	p.R45M	PLA2G4C_uc002phw.3_5'UTR|PLA2G4C_uc010elr.3_Missense_Mutation_p.R35M|PLA2G4C_uc002phx.3_Missense_Mutation_p.R35M|PLA2G4C_uc002phy.4_Missense_Mutation_p.R35M	NM_001159322	NP_001152794	Q9UP65	PA24C_HUMAN	Homo sapiens phospholipase A2, group IVC (cytosolic, calcium-independent) (PLA2G4C), transcript variant 2, mRNA.	35	PLA2c.				arachidonic acid metabolic process|glycerophospholipid catabolic process|inflammatory response|intracellular signal transduction|parturition	cytosol|membrane	calcium-independent phospholipase A2 activity|phospholipid binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3)	38		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)		AGCCTCAATCCTTAGCTTCTT	0.557000														79			41		4.16155e-14	5.20299e-14	1	1	0
TACC2	10579	broad.mit.edu	37	10	123843937	123843937	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:123843937C>A	uc001lfv.3	+	3	2282	c.1922C>A	c.(1921-1923)gCt>gAt	p.A641D	TACC2_uc001lfw.3_Intron|TACC2_uc009xzx.3_Missense_Mutation_p.A641D|TACC2_uc010qtv.2_Missense_Mutation_p.A641D	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	641						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				AAGGGGGGTGCTGGGCACACG	0.607000														17			6		0.00116845	0.00123466	1	1	0
CDH20	28316	broad.mit.edu	37	18	59170288	59170288	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:59170288C>T	uc010dps.1	+	3	916	c.764C>T	c.(763-765)gCt>gTt	p.A255V	CDH20_uc002lif.2_Missense_Mutation_p.A249V	NM_031891	NP_114097	Q9HBT6	CAD20_HUMAN	Homo sapiens cadherin 20, type 2 (CDH20), mRNA.	255	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				GGAGGATTAGCTGGGACCACA	0.507000											OREG0025026	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		75			27		0	0	1	0	0
OVGP1	5016	broad.mit.edu	37	1	111957148	111957148	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:111957148T>C	uc001eba.3	-	10	2031	c.1975A>G	c.(1975-1977)Aca>Gca	p.T659A	OVGP1_uc001eaz.3_Missense_Mutation_p.T621A|OVGP1_uc010owb.2_Missense_Mutation_p.T307A	NM_002557	NP_002548	Q12889	OVGP1_HUMAN	Homo sapiens oviductal glycoprotein 1, 120kDa (OVGP1), mRNA.	659					chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		AGAGGACTTGTTTGAGGGGTT	0.473000														48			22		0	0	1	0	0
ZNF609	23060	broad.mit.edu	37	15	64792015	64792015	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:64792015G>T	uc002ann.3	+	0	397	c.397G>T	c.(397-399)Ggc>Tgc	p.G133C	ZNF609_uc010bgy.3_Missense_Mutation_p.G133C	NM_015042	NP_055857	O15014	ZN609_HUMAN	Homo sapiens zinc finger protein 609 (ZNF609), mRNA.	133						nucleus	zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CAATGCTGGAGGCCTGGTTGC	0.567000														31			3		0.115264	0.116841	1	1	0
NLGN4X	57502	broad.mit.edu	37	X	5821135	5821135	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:5821135C>T	uc010ndi.3	-	5	2159	c.1695G>A	c.(1693-1695)acG>acA	p.T565T	NLGN4X_uc004crp.3_Silent_p.T548T|NLGN4X_uc010ndh.3_Silent_p.T528T|NLGN4X_uc004crq.3_Silent_p.T528T|NLGN4X_uc004crr.3_Silent_p.T528T|NLGN4X_uc010ndj.3_Silent_p.T528T	NM_181332	NP_851849	Q8N0W4	NLGNX_HUMAN	Homo sapiens neuroligin 4, X-linked (NLGN4X), transcript variant 2, mRNA.	528					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						TGGCGAAGTTCGTCCAGTAGG	0.502000														44			24		0	0	1	0	0
KIAA0355	9710	broad.mit.edu	37	19	34791788	34791788	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:34791788C>A	uc002nvd.4	+	1	1269	c.410C>A	c.(409-411)cCt>cAt	p.P137H	KIAA0355_uc010edk.1_Missense_Mutation_p.P127H	NM_014686	NP_055501	O15063	K0355_HUMAN	Homo sapiens KIAA0355 (KIAA0355), mRNA.	137										breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					GCCATAAAGCCTGAGATCGCC	0.493000														21			16		6.72482e-11	8.1643e-11	1	1	0
THBS2	7058	broad.mit.edu	37	6	169641932	169641932	+	Silent	SNP	C	T	T	rs145867791	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:169641932C>T	uc003qwt.3	-	5	1064	c.816G>A	c.(814-816)gaG>gaA	p.E272E		NM_003247	NP_003238	P35442	TSP2_HUMAN	Homo sapiens thrombospondin 2 (THBS2), mRNA.	272					cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		TGTTTCCCAGCTCCTCGCACG	0.657000														34			34		0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	145001826	145001826	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:145001826G>A	uc003zaf.1	-	26	4089	c.3919C>T	c.(3919-3921)Cgg>Tgg	p.R1307W	PLEC_uc003zab.1_Missense_Mutation_p.R1170W|PLEC_uc003zac.1_Missense_Mutation_p.R1174W|PLEC_uc003zad.2_Missense_Mutation_p.R1170W|PLEC_uc003zae.1_Missense_Mutation_p.R1138W|PLEC_uc003zag.1_Missense_Mutation_p.R1148W|PLEC_uc003zah.2_Missense_Mutation_p.R1156W|PLEC_uc003zaj.2_Missense_Mutation_p.R1197W	NM_201380	NP_958782	Q15149	PLEC_HUMAN	Homo sapiens plectin (PLEC), transcript variant 6, mRNA.	1307	Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TCCACGTCCCGCTCCCCGTGC	0.741000														5			3		0	0	1	0	0
RGS18	64407	broad.mit.edu	37	1	192150425	192150425	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:192150425G>A	uc001gsg.3	+	3	463	c.287G>A	c.(286-288)gGa>gAa	p.G96E		NM_130782	NP_570138	Q9NS28	RGS18_HUMAN	Homo sapiens regulator of G-protein signaling 18 (RGS18), mRNA.	96	RGS.				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			kidney(1)|large_intestine(2)|lung(15)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TTGATAGATGGACTAGAGGCT	0.269000														27			26		0	0	1	0	0
KDM4A	9682	broad.mit.edu	37	1	44121425	44121425	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:44121425C>A	uc001cjx.3	+	2	468	c.302C>A	c.(301-303)gCc>gAc	p.A101D	KDM4A_uc010oki.2_Missense_Mutation_p.A101D	NM_014663	NP_055478	O75164	KDM4A_HUMAN	Homo sapiens lysine (K)-specific demethylase 4A (KDM4A), mRNA.	101					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleolus	histone demethylase activity (H3-K36 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						CGCAAGATAGCCAATAGCGAT	0.517000														13			9		1.12685e-05	1.25391e-05	1	1	0
CREBRF	153222	broad.mit.edu	37	5	172535773	172535773	+	Nonsense_Mutation	SNP	C	T	T	rs142630557		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:172535773C>T	uc003mch.3	+	4	1688	c.1369C>T	c.(1369-1371)Cga>Tga	p.R457*	CREBRF_uc011dfd.1_Nonsense_Mutation_p.R457*	NM_153607	NP_705835	Q8IUR6	CE041_HUMAN	Homo sapiens chromosome 5 open reading frame 41 (C5orf41), transcript variant 1, mRNA.	457							protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity										TGAGTGGAACCGAGATACTTT	0.403000														68			36		0	0	1	0	0
RBM17	84991	broad.mit.edu	37	10	6152028	6152028	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:6152028C>T	uc001ijb.3	+	6	868	c.642C>T	c.(640-642)taC>taT	p.Y214Y	RBM17_uc010qav.2_Silent_p.Y214Y	NM_032905	NP_116294	Q96I25	SPF45_HUMAN	Homo sapiens RNA binding motif protein 17 (RBM17), transcript variant 1, mRNA.	214				Y -> H (in Ref. 1; AAH09064).	RNA splicing|mRNA processing	spliceosomal complex	RNA binding|nucleotide binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	19						CCCCAGTGTACGAGGAACAAG	0.453000														54			31		0	0	1	0	0
RPL29	6159	broad.mit.edu	37	3	52029074	52029074	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52029074T>C	uc003dcs.3	-	2	180	c.86A>G	c.(85-87)tAc>tGc	p.Y29C		NM_000992	NP_000983	P47914	RL29_HUMAN	Homo sapiens ribosomal protein L29 (RPL29), mRNA.	29					embryo implantation|endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	RNA binding|heparin binding|protein binding|structural constituent of ribosome			lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		AAGAGATTCGTATCTTTGTGA	0.428000														135			10		0	0	1	0	0
ZFP2	80108	broad.mit.edu	37	5	178358812	178358812	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:178358812C>A	uc003mjn.1	+	4	1007	c.498C>A	c.(496-498)gcC>gcA	p.A166A	ZFP2_uc010jky.2_Silent_p.A166A|ZFP2_uc010jkx.1_Silent_p.A166A|ZFP2_uc021yjb.1_Silent_p.A166A	NM_030613	NP_085116	Q6ZN57	ZFP2_HUMAN	Homo sapiens zinc finger protein 2 homolog (mouse) (ZFP2), mRNA.	166					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	20	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.00655)|GBM - Glioblastoma multiforme(465;0.0302)|OV - Ovarian serous cystadenocarcinoma(192;0.0615)|Epithelial(171;0.111)		GTGGGAAAGCCTTTAGTCAGA	0.403000														39			4		0.00909568	0.00940365	1	1	0
SGCD	6444	broad.mit.edu	37	5	156186309	156186309	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:156186309T>G	uc003lwc.4	+	8	1300	c.781T>G	c.(781-783)Ttc>Gtc	p.F261V	SGCD_uc003lwd.4_Missense_Mutation_p.F260V	NM_000337	NP_001121681	Q92629	SGCD_HUMAN	Homo sapiens sarcoglycan, delta (35kDa dystrophin-associated glycoprotein) (SGCD), transcript variant 1, mRNA.	260			E -> K (in LGMD2F).		cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma		p.F261L(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|prostate(1)	24	Renal(175;0.00488)	Medulloblastoma(196;0.0378)|all_neural(177;0.106)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GCAGAAGGTCTTCGAGATCTG	0.483000														64			36		0	0	1	0	0
MAN2B1	4125	broad.mit.edu	37	19	12760167	12760167	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:12760167C>T	uc002mub.2	-	18	2419	c.2343G>A	c.(2341-2343)cgG>cgA	p.R781R	MAN2B1_uc010dyv.1_Silent_p.R780R	NM_000528	NP_000519	O00754	MA2B1_HUMAN	Homo sapiens mannosidase, alpha, class 2B, member 1 (MAN2B1), transcript variant 1, mRNA.	781					protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TGATGTAAATCCGGGTGTTGA	0.572000														10			4		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140235801	140235801	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140235801G>A	uc003lhx.2	+	0	168	c.168G>A	c.(166-168)gcG>gcA	p.A56A	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Silent_p.A56A|PCDHAC2_uc011dad.2_Silent_p.A56A	NM_018901	NP_061724	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 10 (PCDHA10), transcript variant 1, mRNA.	70	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.A56A(4)		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)			TGGAGCTGGCGGAGCTGGTGC	0.617000														53			46		0	0	1	0	0
SUMF2	25870	broad.mit.edu	37	7	56140721	56140721	+	Nonsense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:56140721G>T	uc011kcw.2	+	2	344	c.313G>T	c.(313-315)Gaa>Taa	p.E105*	PSPH_uc003trj.3_Intron|SUMF2_uc011kcv.2_Non-coding_Transcript|SUMF2_uc003trt.3_5'UTR|SUMF2_uc003trv.3_Nonsense_Mutation_p.E105*|SUMF2_uc011kcy.2_Nonsense_Mutation_p.E105*|SUMF2_uc011kcz.2_Nonsense_Mutation_p.E105*|SUMF2_uc003trx.3_Non-coding_Transcript|SUMF2_uc011kda.2_Intron|SUMF2_uc011kcx.2_Nonsense_Mutation_p.E105*	NM_015411	NP_001139805	Q8NBJ7	SUMF2_HUMAN	Homo sapiens sulfatase modifying factor 2 (SUMF2), transcript variant 2, mRNA.	86						endoplasmic reticulum lumen	metal ion binding			breast(2)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	14	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GTATCGGACAGAAGCTGAGAT	0.483000														48			4		5.9392e-07	6.7814e-07	1	1	0
MRAS	22808	broad.mit.edu	37	3	138091848	138091848	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:138091848C>A	uc003esh.4	+	1	819	c.123C>A	c.(121-123)gaC>gaA	p.D41E	MRAS_uc011bmi.2_Intron|MRAS_uc003esi.4_Missense_Mutation_p.D41E|MRAS_uc021xep.1_Intron|MRAS_uc011bmj.2_Intron|MRAS_uc021xeq.1_Missense_Mutation_p.D41E	NM_012219	NP_036351	O14807	RASM_HUMAN	Homo sapiens muscle RAS oncogene homolog (MRAS), transcript variant 1, mRNA.	41					Ras protein signal transduction|actin cytoskeleton organization|muscle organ development	intracellular|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity			kidney(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	14						TTGTGCCTGACTATGACCCCA	0.542000														126			18		2.94398e-08	3.4452e-08	1	1	0
MSI2	124540	broad.mit.edu	37	17	55334830	55334830	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:55334830G>A	uc002iuz.1	+	2	280	c.107G>A	c.(106-108)aGc>aAc	p.S36N	MSI2_uc010wnm.1_Missense_Mutation_p.S14N|MSI2_uc002iva.3_Missense_Mutation_p.S32N	NM_138962	NP_620412	Q96DH6	MSI2H_HUMAN	Homo sapiens musashi homolog 2 (Drosophila) (MSI2), transcript variant 1, mRNA.	36	RRM 1.					cytoplasm	RNA binding|nucleotide binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(1)|pancreas(1)|skin(1)	7	Breast(9;1.78e-08)			GBM - Glioblastoma multiforme(1;0.0025)		TCTACAGATAGCCTTAGAGAC	0.398000			T	HOXA9	CML									17			8		0	0	1	0	0
PARP1	142	broad.mit.edu	37	1	226552832	226552832	+	Silent	SNP	G	A	A	rs148631906		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:226552832G>A	uc001hqd.4	-	18	2700	c.2529C>T	c.(2527-2529)ggC>ggT	p.G843G		NM_001618	NP_001609	P09874	PARP1_HUMAN	Homo sapiens poly (ADP-ribose) polymerase 1 (PARP1), mRNA.	843	PARP catalytic.				cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|NAD+ ADP-ribosyltransferase activity|identical protein binding|protein N-terminus binding|transcription factor binding|zinc ion binding			breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		GCTGGCATTCGCCTTCACGCT	0.488000								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA						34			30		0	0	1	0	0
EXT1	2131	broad.mit.edu	37	8	119122459	119122459	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:119122459C>A	uc003yok.1	-	0	1600	c.827G>T	c.(826-828)gGa>gTa	p.G276V		NM_000127	NP_000118	Q16394	EXT1_HUMAN	Homo sapiens exostosin 1 (EXT1), mRNA.	276					glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development	Golgi membrane|integral to endoplasmic reticulum membrane	N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			GGTGTCTGATCCTATCCCTGT	0.517000			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Langer-Giedion syndrome;Hereditary Multiple Exostoses					56			5		0.000602214	0.000641151	1	1	0
XRN2	22803	broad.mit.edu	37	20	21327052	21327052	+	Splice_Site	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:21327052G>T	uc002wsf.1	+	17	1625	c.1530_splice	c.e17-1	p.R510_splice	XRN2_uc002wsg.1_Splice_Site_p.R434_splice|XRN2_uc010zsk.1_Splice_Site_p.R456_splice	NM_012255	NP_036387	Q9H0D6	XRN2_HUMAN	Homo sapiens 5'-3' exoribonuclease 2 (XRN2), mRNA.	510					DNA catabolic process, exonucleolytic|RNA catabolic process|cell growth|mRNA processing|regulation of transcription, DNA-dependent|spermatogenesis|transcription termination, DNA-dependent	nucleolus	5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding			endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5)	39						CCTGGTTTTAGGTTATGGGAA	0.418000														99			14		0.000151284	0.000164177	1	1	0
SORD	6652	broad.mit.edu	37	15	45361176	45361176	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:45361176G>T	uc001zul.4	+	6	892	c.712G>T	c.(712-714)Ggt>Tgt	p.G238C	SORD_uc010uel.2_Non-coding_Transcript|SORD_uc010bdz.3_Missense_Mutation_p.G159C	NM_003104	NP_003095	Q00796	DHSO_HUMAN	Homo sapiens sorbitol dehydrogenase (SORD), transcript variant 1, mRNA.	238					L-xylitol catabolic process|fructose biosynthetic process|glucose metabolic process|sorbitol catabolic process|sperm motility	cilium|extracellular space|flagellum|membrane fraction|mitochondrial membrane|soluble fraction	L-iditol 2-dehydrogenase activity|NAD binding|sugar binding|zinc ion binding			endometrium(2)|large_intestine(3)|lung(4)	9		all_cancers(109;3.43e-12)|all_epithelial(112;2.33e-10)|Lung NSC(122;6.01e-07)|all_lung(180;4.38e-06)|Melanoma(134;0.0122)		all cancers(107;1.6e-18)|GBM - Glioblastoma multiforme(94;4.95e-07)|COAD - Colon adenocarcinoma(120;0.0704)|Colorectal(133;0.0706)	NADH(DB00157)	GAAAGTAGAAGGTCAGCTGGG	0.587000														12			3		1	1	1	1	0
LHCGR	3973	broad.mit.edu	37	2	48936113	48936113	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:48936113G>A	uc002rwu.4	-	7	724	c.654C>T	c.(652-654)ttC>ttT	p.F218F	STON1-GTF2A1L_uc021vhf.1_Intron|LHCGR_uc002rwv.2_Non-coding_Transcript	NM_000233	NP_000224	P22888	LSHR_HUMAN	Homo sapiens luteinizing hormone/choriogonadotropin receptor (LHCGR), mRNA.	218					male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity			NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	TGGCCCCACGGAAGGCTCCAT	0.537000														69			41		0	0	1	0	0
TRPC5	7224	broad.mit.edu	37	X	111195637	111195637	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:111195637C>T	uc004epl.1	-	1	931	c.12G>A	c.(10-12)ctG>ctA	p.L4L	TRPC5_uc004epm.1_Silent_p.L4L	NM_012471	NP_036603	Q9UL62	TRPC5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 5 (TRPC5), mRNA.	4					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TTTTGTAGTACAGTTGGGCCA	0.483000														51			7		0	0	1	0	0
ZNF75D	7626	broad.mit.edu	37	X	134421643	134421643	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:134421643G>T	uc022ceq.1	-	5	1349	c.959C>A	c.(958-960)cCt>cAt	p.P320H	DKFZp451F083_uc004eym.3_Intron|DKFZp451F083_uc022cep.1_Intron|ZNF75D_uc004eyo.3_Missense_Mutation_p.P225H	NM_007131	NP_009062	P51815	ZN75D_HUMAN	Homo sapiens zinc finger protein 75D (ZNF75D), transcript variant 1, mRNA.	320					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						TGTATCACCAGGATTTTCCCT	0.383000														157			19		5.35267e-07	6.12308e-07	1	1	0
UBQLNL	143630	broad.mit.edu	37	11	5537069	5537069	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:5537069C>T	uc001maz.4	-	0	888	c.603G>A	c.(601-603)acG>acA	p.T201T	HBG1_uc001mak.1_Intron	NM_145053	NP_659490	Q8IYU4	UBQLN_HUMAN	Homo sapiens ubiquilin-like (UBQLNL), mRNA.	201								p.T201T(2)		endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)		TCAATTGTTGCGTGTCTAGAT	0.483000														78			50		0	0	1	0	0
KPNA2	3838	broad.mit.edu	37	17	66040087	66040087	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:66040087C>T	uc002jgk.3	+	7	1196	c.1064C>T	c.(1063-1065)gCt>gTt	p.A355V	KPNA2_uc002jgl.3_Missense_Mutation_p.A355V	NM_002266	NP_002257	P52292	IMA2_HUMAN	Homo sapiens karyopherin alpha 2 (RAG cohort 1, importin alpha 1) (KPNA2), mRNA.	355	NLS binding site (minor) (By similarity).				DNA metabolic process|G2 phase of mitotic cell cycle|M phase specific microtubule process|NLS-bearing substrate import into nucleus|interspecies interaction between organisms|regulation of DNA recombination	cytoplasm|nuclear pore|nucleoplasm	histone deacetylase binding|nuclear localization sequence binding|protein transporter activity			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|kidney(2)|lung(9)|prostate(1)|urinary_tract(2)	22	all_cancers(12;1.18e-09)		BRCA - Breast invasive adenocarcinoma(8;1.03e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			CAGAAGGAAGCTACGTGGACA	0.493000														109			62		0	0	1	0	0
ZNF334	55713	broad.mit.edu	37	20	45130708	45130708	+	Nonsense_Mutation	SNP	G	A	A	rs143794973		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:45130708G>A	uc002xsa.3	-	3	1801	c.1339C>T	c.(1339-1341)Cga>Tga	p.R447*	ZNF334_uc002xsb.3_Nonsense_Mutation_p.R386*|ZNF334_uc002xsd.3_Nonsense_Mutation_p.R386*|ZNF334_uc002xsc.3_Nonsense_Mutation_p.R424*|ZNF334_uc010ghl.3_Nonsense_Mutation_p.R423*			Q9HCZ1	ZN334_HUMAN	Homo sapiens zinc finger protein 334 (ZNF334), transcript variant 2, mRNA.	424					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				TGACTTCTTCGATGCACATTG	0.418000														91			59		0	0	1	0	0
DZIP1	22873	broad.mit.edu	37	13	96239874	96239874	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:96239874C>T	uc001vmk.3	-	19	2989	c.2137G>A	c.(2137-2139)Ggg>Agg	p.G713R	DZIP1_uc001vmj.3_Missense_Mutation_p.G189R|DZIP1_uc001vml.3_Missense_Mutation_p.G694R	NM_198968	NP_945319	Q86YF9	DZIP1_HUMAN	Homo sapiens DAZ interacting protein 1 (DZIP1), transcript variant 2, mRNA.	713					germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding	p.G713W(1)|p.G694W(1)		endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			GTGTTCTTCCCGAAGCTGCCC	0.572000														47			5		0	0	1	0	0
EGLN2	112398	broad.mit.edu	37	19	41306600	41306600	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:41306600C>A	uc010ehd.3	+	7	1171	c.123C>A	c.(121-123)ccC>ccA	p.P41P	EGLN2_uc002opg.4_Silent_p.P41P|EGLN2_uc002oph.3_Silent_p.P41P|EGLN2_uc002opi.3_Silent_p.P41P	NM_080732	NP_542770	Q96KS0	EGLN2_HUMAN	Homo sapiens egl nine homolog 2 (C. elegans) (EGLN2), transcript variant 3, mRNA.	41					cell redox homeostasis|estrogen receptor signaling pathway|positive regulation of protein catabolic process|regulation of cell growth|response to hypoxia	cytoplasm|nucleus	L-ascorbic acid binding|ferrous iron binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|oxygen sensor activity			breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Vitamin C(DB00126)	GTTACCTGCCCTGTCCCCTGC	0.652000														24			4		0.00909568	0.00940365	1	1	0
FBXW11	23291	broad.mit.edu	37	5	171303505	171303505	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:171303505G>A	uc003mbm.1	-	7	1313	c.942C>T	c.(940-942)aaC>aaT	p.N314N	FBXW11_uc011dey.1_Silent_p.N282N|FBXW11_uc003mbl.1_Silent_p.N301N|FBXW11_uc003mbn.1_Silent_p.N280N	NM_012300	NP_036432	Q9UKB1	FBW1B_HUMAN	Homo sapiens F-box and WD repeat domain containing 11 (FBXW11), transcript variant 3, mRNA.	314					SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway|cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of circadian rhythm|positive regulation of proteolysis|positive regulation of transcription, DNA-dependent|protein dephosphorylation|protein destabilization|protein polyubiquitination|rhythmic process	SCF ubiquitin ligase complex|centrosome|cytosol|nucleus	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2)	21	Renal(175;0.000159)|Lung NSC(126;0.00384)|all_lung(126;0.00659)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GGATCAATGTGTTAAGAACTT	0.468000														31			26		0	0	1	0	0
RLTPR	146206	broad.mit.edu	37	16	67690161	67690161	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:67690161C>A	uc002etn.3	+	33	3893	c.3773C>A	c.(3772-3774)cCt>cAt	p.P1258H	RLTPR_uc010vjr.2_Missense_Mutation_p.P1222H	NM_001013838	NP_001013860	Q6F5E8	LR16C_HUMAN	Homo sapiens RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing (RLTPR), mRNA.	1258								p.Q1258Q(1)		breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		ACGGAGGCCCCTCCCATCTCG	0.602000														94			9		0.000442599	0.000473562	1	1	0
ALPK2	115701	broad.mit.edu	37	18	56202619	56202619	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:56202619G>T	uc002lhj.4	-	4	5014	c.4800C>A	c.(4798-4800)ccC>ccA	p.P1600P	ALPK2_uc002lhk.1_Silent_p.P931P	NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	Homo sapiens alpha-kinase 2 (ALPK2), mRNA.	1600							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CAGGAGAAGAGGGCAAAGGTT	0.433000														63			30		2.4375e-19	3.13598e-19	1	1	0
IPO9	55705	broad.mit.edu	37	1	201828116	201828116	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:201828116C>A	uc001gwz.3	+	12	1512	c.1462C>A	c.(1462-1464)Ctc>Atc	p.L488I		NM_018085	NP_060555	Q96P70	IPO9_HUMAN	Homo sapiens importin 9 (IPO9), mRNA.	488					protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity			cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						AGACCTCAACCTCTCAGGTAT	0.468000														39			7		8.12818e-05	8.84769e-05	1	1	0
OBSCN	84033	broad.mit.edu	37	1	228503696	228503696	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:228503696G>T	uc009xez.1	+	49	13205	c.13161G>T	c.(13159-13161)gaG>gaT	p.E4387D	OBSCN_uc001hsn.3_Missense_Mutation_p.E4387D	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	4387	Ig-like 45.				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	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase 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)				AGAACGCCGAGGTGGTCTTCT	0.657000														5			6		3.59834e-05	3.95114e-05	1	1	0
TNIP1	10318	broad.mit.edu	37	5	150444602	150444602	+	Nonsense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:150444602C>A	uc003lti.3	-	1	296	c.55G>T	c.(55-57)Gga>Tga	p.G19*	TNIP1_uc010jhq.2_5'Flank|TNIP1_uc010jho.2_5'Flank|TNIP1_uc010jhp.2_5'Flank|TNIP1_uc010jhl.3_5'Flank|TNIP1_uc010jhn.3_Nonsense_Mutation_p.G19*|TNIP1_uc010jhm.3_Nonsense_Mutation_p.G19*|TNIP1_uc010jhr.2_Nonsense_Mutation_p.G19*|TNIP1_uc011dco.2_Nonsense_Mutation_p.G19*|TNIP1_uc003ltg.3_Intron|TNIP1_uc003ltk.3_Nonsense_Mutation_p.G19*|TNIP1_uc003ltj.3_Nonsense_Mutation_p.G19*|TNIP1_uc021ygb.1_Nonsense_Mutation_p.G19*|TNIP1_uc010jhs.2_Intron	NM_006058	NP_006049	Q15025	TNIP1_HUMAN	Homo sapiens TNFAIP3 interacting protein 1 (TNIP1), transcript variant 5, mRNA.	19					defense response|glycoprotein biosynthetic process|negative regulation of viral genome replication|translation	cytoplasm|nucleus	protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(5)|ovary(2)|prostate(2)|skin(3)	23		Medulloblastoma(196;0.0911)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GATGCCTCTCCTGAGGGCACG	0.587000														27			18		6.94344e-10	8.32448e-10	1	1	0
DHX8	1659	broad.mit.edu	37	17	41568556	41568556	+	Nonsense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:41568556G>T	uc002idu.1	+	3	403	c.331G>T	c.(331-333)Gaa>Taa	p.E111*	DHX8_uc010wif.1_Nonsense_Mutation_p.E20*|DHX8_uc010wig.2_Nonsense_Mutation_p.E111*	NM_004941	NP_004932	Q14562	DHX8_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 8 (DHX8), mRNA.	111						catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|RNA binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		ACCTAAAACAGAAAAAGAAAA	0.318000														32			23		3.73988e-18	4.78508e-18	1	1	0
IFT140	9742	broad.mit.edu	37	16	1630804	1630804	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:1630804C>T	uc002cmb.3	-	12	1842	c.1480G>A	c.(1480-1482)Gtt>Att	p.V494I	IFT140_uc002clz.3_Missense_Mutation_p.V145I	NM_014714	NP_055529	Q96RY7	IF140_HUMAN	Homo sapiens intraflagellar transport 140 homolog (Chlamydomonas) (IFT140), mRNA.	494										breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				ACCGTGTAAACGTTTTCTTCA	0.498000														41			10		0	0	1	0	0
C1orf210	149466	broad.mit.edu	37	1	43748742	43748742	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:43748742G>A	uc001cit.4	-	2	290	c.56C>T	c.(55-57)gCt>gTt	p.A19V	C1orf210_uc021omn.1_Missense_Mutation_p.A19V	NM_182517	NP_872323	Q8IVY1	CA210_HUMAN	Homo sapiens chromosome 1 open reading frame 210 (C1orf210), transcript variant 1, mRNA.	19						integral to membrane				breast(1)	1	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				AGGGGCCACAGCAGACGCTGT	0.637000														18			9		0	0	1	0	0
NCOR1	9611	broad.mit.edu	37	17	15942969	15942969	+	Splice_Site	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:15942969C>A	uc002gpo.3	-	44	7003	c.6734_splice	c.e44-1	p.G2245_splice	NCOR1_uc002gpn.3_Splice_Site_p.G2142_splice|NCOR1_uc002gpl.3_Splice_Site_p.G260_splice|NCOR1_uc002gpm.3_Splice_Site_p.G765_splice|NCOR1_uc010vwb.2_Splice_Site_p.G829_splice|NCOR1_uc010coy.3_Splice_Site_p.G1153_splice	NM_006311	NP_006302	O75376	NCOR1_HUMAN	Homo sapiens nuclear receptor corepressor 1 (NCOR1), transcript variant 1, mRNA.	2245	ID2 (By similarity).|Interaction with C1D (By similarity).				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		CTAACTGAGCCTGAAAGAGAA	0.448000														26			4		2.56e-06	2.88678e-06	1	1	0
CDS2	8760	broad.mit.edu	37	20	5159588	5159588	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:5159588C>T	uc002wls.3	+	4	847	c.515C>T	c.(514-516)aCt>aTt	p.T172I	CDS2_uc002wlr.2_Missense_Mutation_p.T94I|CDS2_uc002wlw.3_Missense_Mutation_p.T52I|CDS2_uc002wlv.3_Missense_Mutation_p.T74I|CDS2_uc010zqv.2_5'UTR	NM_003818	NP_003809	O95674	CDS2_HUMAN	Homo sapiens CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 2 (CDS2), mRNA.	172					phospholipid biosynthetic process	integral to membrane|mitochondrial inner membrane	phosphatidate cytidylyltransferase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|stomach(1)	14						ATTTCCTTTACTCTCTATCTA	0.408000														97			6		0	0	1	0	0
C8orf74	203076	broad.mit.edu	37	8	10555162	10555162	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:10555162C>T	uc003wtd.1	+	2	324	c.295C>T	c.(295-297)Cgg>Tgg	p.R99W	C8orf74_uc003wte.1_Non-coding_Transcript	NM_001040032	NP_001035121	Q6P047	CH074_HUMAN	Homo sapiens chromosome 8 open reading frame 74 (C8orf74), mRNA.	99										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13				COAD - Colon adenocarcinoma(149;0.0811)		TAGAGATTACCGGGGCCATTT	0.567000														76			51		0	0	1	0	0
POGZ	23126	broad.mit.edu	37	1	151400673	151400673	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:151400673G>A	uc001eyd.2	-	5	1100	c.785C>T	c.(784-786)aCa>aTa	p.T262I	POGZ_uc021oyq.1_Missense_Mutation_p.T209I|POGZ_uc010pdb.2_Missense_Mutation_p.T262I|POGZ_uc010pdc.2_Missense_Mutation_p.T209I|POGZ_uc009wmv.2_Missense_Mutation_p.T167I|POGZ_uc001eyf.2_Missense_Mutation_p.T209I|POGZ_uc010pdd.2_Intron|POGZ_uc001eyg.2_Missense_Mutation_p.T262I	NM_015100	NP_055915	Q7Z3K3	POGZ_HUMAN	Homo sapiens pogo transposable element with ZNF domain (POGZ), transcript variant 1, mRNA.	262					cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GGTTGGCTGTGTGGCAGTGGG	0.577000														51			9		0	0	1	0	0
TTC6	319089	broad.mit.edu	37	14	38296400	38296400	+	Splice_Site	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:38296400G>T	uc001wuj.3	+	12	1420	c.1318_splice	c.e12-1	p.I440_splice	TTC6_uc001wug.3_Intron|TTC6_uc001wuh.3_Splice_Site_p.I343_splice|TTC6_uc001wui.3_Splice_Site					SubName: Full=TTC6 protein;											central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	14	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;1.59e-06)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0543)|all cancers(34;0.108)|BRCA - Breast invasive adenocarcinoma(188;0.156)|LUSC - Lung squamous cell carcinoma(13;0.176)	GBM - Glioblastoma multiforme(112;0.00551)		TTATACTGCAGATCAGTACTA	0.363000														35			18		9.16793e-09	1.08001e-08	1	1	0
SH3BP1	23616	broad.mit.edu	37	22	38046569	38046569	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:38046569G>T	uc003ati.3	+	15	2173	c.1435G>T	c.(1435-1437)Ggc>Tgc	p.G479C	SH3BP1_uc003atg.1_Non-coding_Transcript|SH3BP1_uc011anl.1_3'UTR|SH3BP1_uc003ath.1_Missense_Mutation_p.G479C|SH3BP1_uc003atj.1_Missense_Mutation_p.G415C|SH3BP1_uc003atk.1_Missense_Mutation_p.G393C|AK097791_uc003atl.1_Non-coding_Transcript	NM_018957	NP_061830	Q9Y3L3	3BP1_HUMAN	Homo sapiens SH3-domain binding protein 1 (SH3BP1), mRNA.	479					signal transduction	cytoplasm	GTPase activator activity|SH3 domain binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Melanoma(58;0.0574)					CAACGTGTCAGGCCTCTTCTC	0.632000														29			19		3.62473e-10	4.36059e-10	1	1	0
TAS2R9	50835	broad.mit.edu	37	12	10961845	10961845	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:10961845C>T	uc001qyx.3	-	0	923	c.830G>A	c.(829-831)aGc>aAc	p.S277N	TAS2R8_uc010shh.2_5'Flank	NM_023917	NP_076406	Q9NYW1	TA2R9_HUMAN	Homo sapiens taste receptor, type 2, member 9 (TAS2R9), mRNA.	277					sensory perception of taste	integral to membrane	taste receptor activity	p.S277R(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						GAATGAATGGCTTGATGGGAA	0.373000														76			8		0	0	1	0	0
CEP192	55125	broad.mit.edu	37	18	13095650	13095650	+	Nonsense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:13095650G>T	uc010xac.2	+	34	6483	c.6403G>T	c.(6403-6405)Gag>Tag	p.E2135*	CEP192_uc010dlf.1_Non-coding_Transcript|CEP192_uc010xad.2_Nonsense_Mutation_p.E1660*|CEP192_uc002kru.3_Non-coding_Transcript|CEP192_uc002krv.3_Nonsense_Mutation_p.E557*|CEP192_uc002krx.3_Nonsense_Mutation_p.E139*|CEP192_uc002kry.3_Non-coding_Transcript	NM_032142	NP_115518	B7ZMF0	B7ZMF0_HUMAN	Homo sapiens centrosomal protein 192kDa (CEP192), mRNA.	1730										NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						TGTCCTACCCGAGCACTTGAT	0.587000														55			24		1.1804e-14	1.48086e-14	1	1	0
INADL	10207	broad.mit.edu	37	1	62330279	62330279	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:62330279C>T	uc001dab.3	+	19	2923	c.2809C>T	c.(2809-2811)Ccg>Tcg	p.P937S	INADL_uc009waf.1_Missense_Mutation_p.P937S|INADL_uc001daa.2_Missense_Mutation_p.P937S|INADL_uc001dad.3_Missense_Mutation_p.P634S|INADL_uc001dac.3_Non-coding_Transcript	NM_176877	NP_795352	Q8NI35	INADL_HUMAN	Homo sapiens InaD-like (Drosophila) (INADL), mRNA.	937					intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						GGAGGCACAGCCGTATGGCTA	0.483000														38			29		0	0	1	0	0
USP3	9960	broad.mit.edu	37	15	63880966	63880966	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:63880966C>T	uc002amf.3	+	12	1410	c.1281C>T	c.(1279-1281)taC>taT	p.Y427Y	USP3_uc002amg.3_Silent_p.Y342Y|USP3_uc002amh.3_Silent_p.Y405Y|USP3_uc010uij.2_Silent_p.Y383Y|USP3_uc010uik.2_Silent_p.Y178Y|USP3_uc010bgs.3_Silent_p.Y410Y|USP3_uc002ami.3_Silent_p.Y258Y|LOC100130855_uc002amk.3_Non-coding_Transcript|LOC100130855_uc002amj.3_Non-coding_Transcript	NM_006537	NP_006528	Q9Y6I4	UBP3_HUMAN	Homo sapiens ubiquitin specific peptidase 3 (USP3), mRNA.	427					DNA repair|histone deubiquitination|mitotic cell cycle|regulation of protein stability|ubiquitin-dependent protein catabolic process	nuclear chromatin	histone binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			endometrium(3)|large_intestine(7)|lung(4)	14				GBM - Glioblastoma multiforme(80;0.0187)		TTGATACATACGTAGAATTTC	0.373000														55			34		0	0	1	0	0
ANPEP	290	broad.mit.edu	37	15	90347138	90347138	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:90347138C>T	uc002bop.4	-	6	1567	c.1275G>A	c.(1273-1275)gcG>gcA	p.A425A		NM_001150	NP_001141	P15144	AMPN_HUMAN	Homo sapiens alanyl (membrane) aminopeptidase (ANPEP), mRNA.	425	Metalloprotease.				angiogenesis|cell differentiation|interspecies interaction between organisms	ER-Golgi intermediate compartment|cytosol|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding	p.A425A(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)	AGGTGGGCTCCGCATAGTCAG	0.632000														24			7		0	0	1	0	0
INO80	54617	broad.mit.edu	37	15	41339616	41339616	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:41339616G>A	uc001zni.3	-	22	2938	c.2725C>T	c.(2725-2727)Ctt>Ttt	p.L909F	INO80_uc010ucu.2_Non-coding_Transcript	NM_017553	NP_060023	Q9ULG1	INO80_HUMAN	Homo sapiens INO80 homolog (S. cerevisiae) (INO80), mRNA.	909	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.				UV-damage excision repair|cell division|cellular response to UV|cellular response to ionizing radiation|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of DNA replication involved in S phase|positive regulation of cell growth|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly	Ino80 complex|microtubule	ATP binding|ATPase activity|DNA binding|DNA helicase activity|actin binding|alpha-tubulin binding			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						CTGGCCAAAAGTCCCTGAAGC	0.343000														19			19		0	0	1	0	0
SUPT16H	11198	broad.mit.edu	37	14	21825521	21825521	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:21825521G>T	uc001wao.2	-	21	2834	c.2495C>A	c.(2494-2496)cCt>cAt	p.P832H	SUPT16H_uc001wan.2_5'UTR	NM_007192	NP_009123	Q9Y5B9	SP16H_HUMAN	Homo sapiens suppressor of Ty 16 homolog (S. cerevisiae) (SUPT16H), mRNA.	832					DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		CACCACAAAAGGTGGCTGTCA	0.388000														27			4		0.184627	0.186034	1	1	0
SSPO	23145	broad.mit.edu	37	7	149500075	149500075	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:149500075C>T	uc010lpk.3	+	51	7692	c.7692C>T	c.(7690-7692)tgC>tgT	p.C2564C		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	2567	TSP type-1 5.				cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GGGGACCCTGCAGCGTCTCCT	0.672000														7			3		0	0	1	0	0
COL4A1	1282	broad.mit.edu	37	13	110861234	110861234	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:110861234G>A	uc001vqw.4	-	11	777	c.655C>T	c.(655-657)Caa>Taa	p.Q219*		NM_001845	NP_001836	P02462	CO4A1_HUMAN	Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA.	219	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			AAGCCCATTTGTCCCTGTGGA	0.388000														135			10		0	0	1	0	0
VWA7	80737	broad.mit.edu	37	6	31742304	31742304	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31742304G>A	uc011dog.2	-	4	948	c.710C>T	c.(709-711)cCg>cTg	p.P237L	VWA7_uc003nxd.2_5'UTR|VWA7_uc011doh.1_Non-coding_Transcript	NM_025258	NP_079534	Q9Y334	G7C_HUMAN	Homo sapiens von Willebrand factor A domain containing 7 (VWA7), mRNA.	237						extracellular region											TGGAGGTTTCGGGGGATGAGT	0.542000														36			8		0	0	1	0	0
ADCY2	108	broad.mit.edu	37	5	7816988	7816988	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:7816988C>T	uc003jdz.1	+	22	2960	c.2893C>T	c.(2893-2895)Cgg>Tgg	p.R965W	ADCY2_uc011cmo.1_Missense_Mutation_p.R785W|ADCY2_uc010itm.1_Missense_Mutation_p.R161W	NM_020546	NP_065433	Q08462	ADCY2_HUMAN	Homo sapiens adenylate cyclase 2 (brain) (ADCY2), mRNA.	965					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	p.E964K(1)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						GGAGCCCGAGCGGCAGTACAT	0.507000											OREG0016499	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		30			12		0	0	1	0	0
CLN3	1201	broad.mit.edu	37	16	28493460	28493460	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:28493460C>T	uc002dpo.3	-	12	1345	c.1022G>A	c.(1021-1023)cGc>cAc	p.R341H	NPIPL1_uc010vct.2_Intron|CLN3_uc002dpl.3_Missense_Mutation_p.R263H|CLN3_uc002dpm.3_Missense_Mutation_p.R287H|CLN3_uc010vcu.2_Missense_Mutation_p.R241H|CLN3_uc010vcv.2_Missense_Mutation_p.R317H|CLN3_uc002dpp.3_Missense_Mutation_p.R341H|CLN3_uc021tfs.1_Missense_Mutation_p.R188H|CLN3_uc002dpt.1_Missense_Mutation_p.R241H|CLN3_uc002dpq.1_Missense_Mutation_p.R293H|CLN3_uc010bye.1_Missense_Mutation_p.R324H|CLN3_uc002dpr.1_Non-coding_Transcript|CLN3_uc010byf.1_Non-coding_Transcript|CLN3_uc002dps.1_Missense_Mutation_p.R214H|CLN3_uc002dpu.1_Missense_Mutation_p.R239H|CLN3_uc002dpw.1_Missense_Mutation_p.R188H|CLN3_uc010vcw.1_3'UTR	NM_000086	NP_001035897	Q13286	CLN3_HUMAN	Homo sapiens ceroid-lipofuscinosis, neuronal 3 (CLN3), transcript variant 2, mRNA.	341					amyloid precursor protein catabolic process|arginine transport|associative learning|autophagic vacuole fusion|cell death|cellular amino acid metabolic process|cytosolic calcium ion homeostasis|galactosylceramide metabolic process|globoside metabolic process|glucosylceramide metabolic process|ionotropic glutamate receptor signaling pathway|lysosomal lumen acidification|lysosomal lumen pH elevation|negative regulation of catalytic activity|negative regulation of macroautophagy|negative regulation of neuron apoptosis|negative regulation of proteolysis|neuromuscular process controlling balance|neurotransmitter metabolic process|protein catabolic process|protein folding|protein processing|receptor-mediated endocytosis|regulation of action potential|sphingomyelin metabolic process|vacuolar transport	Golgi membrane|Golgi stack|autophagic vacuole|caveola|cytosol|early endosome|integral to endoplasmic reticulum membrane|late endosome|lysosomal membrane|membrane fraction|mitochondrion|neuron projection|nucleus|synaptic vesicle|trans-Golgi network	unfolded protein binding			breast(1)|large_intestine(2)|lung(11)|upper_aerodigestive_tract(1)	15						GAAACGGATGCGACAGCAGCG	0.637000														11			12		0	0	1	0	0
IFNAR2	3455	broad.mit.edu	37	21	34660531	34660531	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:34660531T>G	uc002yrl.1	+	4	1186	c.775T>G	c.(775-777)Tcc>Gcc	p.S259A	IFNAR2_uc002yrk.1_Missense_Mutation_p.S257A	NM_000628	NP_000619	P48551	INAR2_HUMAN	Homo sapiens interleukin 10 receptor, beta (IL10RB), mRNA.	271					JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to interferon-alpha|response to virus|type I interferon-mediated signaling pathway	extracellular region|extracellular space|integral to plasma membrane	protein kinase binding|type I interferon binding|type I interferon receptor activity	p.T258A(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	11					Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)	GTACGCCTTCTCCCCTAGGAA	0.512000														48			32		0	0	1	0	0
ZNF646	9726	broad.mit.edu	37	16	31090101	31090101	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:31090101C>T	uc002eap.3	+	1	2745	c.2456C>T	c.(2455-2457)gCc>gTc	p.A819V	ZNF646_uc021tgu.1_Missense_Mutation_p.A819V	NM_014699	NP_055514	O15015	ZN646_HUMAN	Homo sapiens zinc finger protein 646 (ZNF646), mRNA.	819					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						CAGGCTGGGGCCGCTCACACA	0.617000														46			19		0	0	1	0	0
MED16	10025	broad.mit.edu	37	19	885908	885908	+	Silent	SNP	G	A	A	rs116674441	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:885908G>A	uc002lqd.1	-	4	892	c.741C>T	c.(739-741)agC>agT	p.S247S	MED16_uc010drw.2_Silent_p.S72S|MED16_uc002lqe.3_Silent_p.S236S|MED16_uc002lqf.3_Silent_p.S236S|MED16_uc010xfv.1_Intron|MED16_uc010xfw.1_Silent_p.S236S|MED16_uc010xfx.1_Intron|MED16_uc010xfy.1_Intron	NM_005481	NP_005472	Q9Y2X0	MED16_HUMAN	Homo sapiens mediator complex subunit 16 (MED16), mRNA.	247					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGCTCACCACGCTCACGCACA	0.652000														37			22		0	0	1	0	0
NT5M	56953	broad.mit.edu	37	17	17250164	17250164	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:17250164G>A	uc002grf.3	+	4	775	c.590G>A	c.(589-591)tGc>tAc	p.C197Y	NT5M_uc002grg.3_Missense_Mutation_p.C203Y	NM_020201	NP_064586	Q9NPB1	NT5M_HUMAN	Homo sapiens 5',3'-nucleotidase, mitochondrial (NT5M), nuclear gene encoding mitochondrial protein, mRNA.	197					DNA replication|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	5'-nucleotidase activity|metal ion binding|nucleotide binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4						TTCACCGCCTGCCACAACCAG	0.682000														23			4		0	0	1	0	0
PDDC1	347862	broad.mit.edu	37	11	771345	771345	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:771345C>T	uc001lrd.3	-	5	557	c.532G>A	c.(532-534)Gcc>Acc	p.A178T	PDDC1_uc001lrc.3_Missense_Mutation_p.A178T|PDDC1_uc010qwm.2_Missense_Mutation_p.A128T|PDDC1_uc001lrf.1_3'UTR|PDDC1_uc001lrg.1_Non-coding_Transcript|PDDC1_uc009ycg.3_Missense_Mutation_p.A128T|PDDC1_uc021qbo.1_Missense_Mutation_p.A128T|PDDC1_uc010qwn.1_Non-coding_Transcript|PDDC1_uc010qwo.1_Non-coding_Transcript|PDDC1_uc010qwp.1_Missense_Mutation_p.A142T|PDDC1_uc010qwq.1_Missense_Mutation_p.A92T|PDDC1_uc010qwr.1_Missense_Mutation_p.A178T|PDDC1_uc010qws.1_Missense_Mutation_p.A128T	NM_182612	NP_872418	Q8NB37	PDDC1_HUMAN	Homo sapiens Parkinson disease 7 domain containing 1 (PDDC1), mRNA.	178						extracellular region				kidney(1)|lung(3)|urinary_tract(1)	5		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;3.66e-26)|Epithelial(43;2.43e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-19)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CTGAAGCAGGCGCCCGAATCC	0.697000														12			6		0	0	1	0	0
GRIK4	2900	broad.mit.edu	37	11	120776145	120776145	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:120776145C>T	uc001pxn.2	+	12	1706	c.1419C>T	c.(1417-1419)taC>taT	p.Y473Y	GRIK4_uc009zav.1_Silent_p.Y473Y|GRIK4_uc009zaw.1_Silent_p.Y473Y|GRIK4_uc009zax.1_Silent_p.Y473Y	NM_014619	NP_055434	Q16099	GRIK4_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 4 (GRIK4), mRNA.	473					glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)	ATGGCGTGTACGGCGTTCCCG	0.607000														113			40		0	0	1	0	0
STK17B	9262	broad.mit.edu	37	2	197021347	197021347	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:197021347T>C	uc002utk.3	-	2	475	c.151A>G	c.(151-153)Ata>Gta	p.I51V	STK17B_uc010fsh.3_Missense_Mutation_p.I51V	NM_004226	NP_004217	O94768	ST17B_HUMAN	Homo sapiens serine/threonine kinase 17b (STK17B), mRNA.	51	Protein kinase.				apoptosis|induction of apoptosis|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity			breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(10)	15			OV - Ovarian serous cystadenocarcinoma(117;0.141)			GATTTTGATATACATTGTCTA	0.353000														61			45		0	0	1	0	0
LRRC8E	80131	broad.mit.edu	37	19	7965224	7965224	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:7965224C>T	uc002mir.3	+	2	1918	c.1817C>T	c.(1816-1818)gCg>gTg	p.A606V		NM_025061	NP_079337	Q6NSJ5	LRC8E_HUMAN	Homo sapiens leucine rich repeat containing 8 family, member E (LRRC8E), mRNA.	606						integral to membrane				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(10)	35						AGCCTGGGTGCGCTGCAGGAA	0.632000														18			17		0	0	1	0	0
SPTBN4	57731	broad.mit.edu	37	19	41040140	41040140	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:41040140C>T	uc002ony.3	+	19	4335	c.4249C>T	c.(4249-4251)Cag>Tag	p.Q1417*	SPTBN4_uc002onx.3_Nonsense_Mutation_p.Q1417*|SPTBN4_uc002onz.3_Nonsense_Mutation_p.Q1417*|SPTBN4_uc010egx.3_Nonsense_Mutation_p.Q160*|SPTBN4_uc010egy.1_Nonsense_Mutation_p.Q93*|SPTBN4_uc002ooa.3_Nonsense_Mutation_p.Q93*|SPTBN4_uc010egz.1_Nonsense_Mutation_p.Q93*	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 4 (SPTBN4), transcript variant sigma1, mRNA.	1417					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	PML body|cytosol|nuclear matrix|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CCAGCTGGTGCAGAGCTTTGC	0.612000														16			15		0	0	1	0	0
ACTL8	81569	broad.mit.edu	37	1	18149677	18149677	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:18149677C>T	uc001bat.3	+	1	390	c.174C>T	c.(172-174)tgC>tgT	p.C58C		NM_030812	NP_110439	Q9H568	ACTL8_HUMAN	Homo sapiens actin-like 8 (ACTL8), mRNA.	58						cytoplasm|cytoskeleton				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	28		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)		TCGACATTTGCCATCCTGACA	0.582000														57			26		0	0	1	0	0
DHX58	79132	broad.mit.edu	37	17	40257143	40257143	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:40257143G>T	uc002hyw.3	-	9	1517	c.1294C>A	c.(1294-1296)Ctg>Atg	p.L432M	DHX58_uc002hyv.3_Non-coding_Transcript|DHX58_uc010wgf.1_Missense_Mutation_p.L425M	NM_024119	NP_077024	Q96C10	DHX58_HUMAN	Homo sapiens DEXH (Asp-Glu-X-His) box polypeptide 58 (DHX58), mRNA.	432	Helicase C-terminal.				innate immune response	cytoplasm	ATP binding|DNA binding|RNA binding|helicase activity|protein binding|zinc ion binding			breast(2)|endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		AGAAGGTTCAGGGTTCCATCT	0.562000														18			10		2.52707e-12	3.1144e-12	1	1	0
VRK3	51231	broad.mit.edu	37	19	50482412	50482412	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:50482412G>A	uc002prg.2	-	13	1462	c.1364C>T	c.(1363-1365)gCt>gTt	p.A455V	VRK3_uc002prh.1_Missense_Mutation_p.A455V|VRK3_uc002pri.1_Missense_Mutation_p.A405V|VRK3_uc010ens.2_Missense_Mutation_p.A455V|VRK3_uc010ybl.1_Missense_Mutation_p.A405V|VRK3_uc010ybm.1_Missense_Mutation_p.A224V	NM_016440	NP_057524	Q8IV63	VRK3_HUMAN	Homo sapiens vaccinia related kinase 3 (VRK3), transcript variant 1, mRNA.	455	Protein kinase.					nucleus	ATP binding|protein kinase activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)|stomach(2)|urinary_tract(1)	23		all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00166)|OV - Ovarian serous cystadenocarcinoma(262;0.00652)		CTGCAGCAAAGCTTCTAGGTT	0.562000														21			11		0	0	1	0	0
C2orf16	84226	broad.mit.edu	37	2	27804294	27804294	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:27804294G>A	uc002rkz.4	+	0	4906	c.4855G>A	c.(4855-4857)Gag>Aag	p.E1619K	ZNF512_uc010ylw.2_5'Flank|ZNF512_uc002rlb.3_5'Flank|ZNF512_uc010ylx.2_5'Flank|ZNF512_uc002rlc.3_5'Flank|ZNF512_uc002rla.3_5'Flank|ZNF512_uc010ylv.2_5'Flank|ZNF512_uc010yly.1_5'Flank|ZNF512_uc010ylz.2_5'Flank	NM_032266	NP_115642	Q68DN1	CB016_HUMAN	Homo sapiens chromosome 2 open reading frame 16 (C2orf16), mRNA.	1619	27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.									breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					CAGTCCCCCCGAGAGGAGCTG	0.567000														123			7		0	0	1	0	0
MUS81	80198	broad.mit.edu	37	11	65632736	65632736	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:65632736C>T	uc001ofv.4	+	13	1800	c.1447C>T	c.(1447-1449)Cgc>Tgc	p.R483C	MUS81_uc001ofx.4_Missense_Mutation_p.R40C	NM_025128	NP_079404	Q96NY9	MUS81_HUMAN	Homo sapiens MUS81 endonuclease homolog (S. cerevisiae) (MUS81), mRNA.	483					DNA recombination|DNA repair	nucleolus	3'-flap endonuclease activity|DNA binding|metal ion binding|protein binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	13				READ - Rectum adenocarcinoma(159;0.166)		GATGCAGGTGCGCGGAGTGAG	0.647000								Homologous recombination						49			31		0	0	1	0	0
H6PD	9563	broad.mit.edu	37	1	9323955	9323955	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:9323955G>A	uc001apt.3	+	4	1676	c.1403G>A	c.(1402-1404)gGc>gAc	p.G468D		NM_004285	NP_004276	O95479	G6PE_HUMAN	Homo sapiens hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase) (H6PD), mRNA.	468	Glucose 1-dehydrogenase.					endoplasmic reticulum lumen	6-phosphogluconolactonase activity|NADP binding|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)	NADH(DB00157)	ATCTTCCATGGCCGGAAGAAT	0.602000														97			61		0	0	1	0	0
E2F8	79733	broad.mit.edu	37	11	19247037	19247037	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:19247037G>T	uc001mpm.3	-	11	2674	c.2152C>A	c.(2152-2154)Ctc>Atc	p.L718I	E2F8_uc009yhv.3_Non-coding_Transcript|E2F8_uc001mpn.4_Missense_Mutation_p.L718I	NM_024680	NP_078956	A0AVK6	E2F8_HUMAN	Homo sapiens E2F transcription factor 8 (E2F8), transcript variant 1, mRNA.	718					cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CTTGAAGCGAGAGCCGGGCTG	0.527000														46			30		1.80694e-10	2.18278e-10	1	1	0
ATE1	11101	broad.mit.edu	37	10	123658440	123658440	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:123658440C>T	uc001lfp.3	-	6	940	c.858G>A	c.(856-858)tcG>tcA	p.S286S	ATE1_uc001lfq.3_Intron|ATE1_uc010qtr.2_Intron|ATE1_uc010qts.2_Silent_p.S190S|ATE1_uc010qtt.2_Silent_p.S279S|ATE1_uc001lfr.3_Intron|ATE1_uc009xzu.3_Intron	NM_007041	NP_008972	O95260	ATE1_HUMAN	Homo sapiens arginyltransferase 1 (ATE1), transcript variant 2, mRNA.	286					protein arginylation	cytoplasm|nucleus	acyltransferase activity|arginyltransferase activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212)				GGCTGAAAGACGACTTGAACT	0.433000														32			33		0	0	1	0	0
LGI2	55203	broad.mit.edu	37	4	25013964	25013964	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:25013964G>A	uc003grf.2	-	6	912	c.813C>T	c.(811-813)aaC>aaT	p.N271N		NM_018176	NP_060646	Q8N0V4	LGI2_HUMAN	Homo sapiens leucine-rich repeat LGI family, member 2 (LGI2), mRNA.	271						extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				CACCTGTAATGTTGTCATAGC	0.512000														60			28		0	0	1	0	0
TTI2	80185	broad.mit.edu	37	8	33361070	33361070	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:33361070C>T	uc003xjl.4	-	4	1661	c.1136G>A	c.(1135-1137)cGg>cAg	p.R379Q	TTI2_uc003xjm.4_Missense_Mutation_p.R379Q|TTI2_uc003xjn.1_Missense_Mutation_p.R379Q	NM_025115	NP_079391	Q6NXR4	CH041_HUMAN	Homo sapiens TELO2 interacting protein 2 (TTI2), transcript variant 2, mRNA.	379							binding										CTTTAAGTGCCGGACAGTTAG	0.468000														71			34		0	0	1	0	0
REXO2	25996	broad.mit.edu	37	11	114320644	114320644	+	Nonsense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:114320644G>T	uc001poy.3	+	6	804	c.661G>T	c.(661-663)Gaa>Taa	p.E221*	REXO2_uc001poz.3_3'UTR	NM_015523	NP_056338	Q9Y3B8	ORN_HUMAN	Homo sapiens REX2, RNA exonuclease 2 homolog (S. cerevisiae) (REXO2), nuclear gene encoding mitochondrial protein, mRNA.	221					nucleotide metabolic process	mitochondrion|nucleus	3'-5' exonuclease activity|nucleic acid binding			cervix(1)|endometrium(1)|kidney(1)|lung(1)	4		all_cancers(61;5.06e-12)|all_epithelial(67;5.3e-06)|all_hematologic(158;7.68e-05)|Acute lymphoblastic leukemia(157;0.000966)|Melanoma(852;0.00153)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.0818)|Prostate(24;0.104)		BRCA - Breast invasive adenocarcinoma(274;2.65e-06)|Epithelial(105;6.09e-05)|all cancers(92;0.000494)		AAAAATAGATGAAAAGAAGAG	0.368000														101			42		3.61848e-18	4.63112e-18	1	1	0
CUBN	8029	broad.mit.edu	37	10	17083137	17083137	+	Silent	SNP	C	T	T	rs139281325		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:17083137C>T	uc001ioo.3	-	26	3964	c.3912G>A	c.(3910-3912)caG>caA	p.Q1304Q		NM_001081	NP_001072	O60494	CUBN_HUMAN	Homo sapiens cubilin (intrinsic factor-cobalamin receptor) (CUBN), mRNA.	1304	CUB 8.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AGTTGCAATGCTGATTTTCAG	0.393000														144			15		0	0	1	0	0
RCAN2	10231	broad.mit.edu	37	6	46216554	46216554	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:46216554A>G	uc003oyc.2	-	2	458	c.305T>C	c.(304-306)aTa>aCa	p.I102T	RCAN2_uc003oyb.2_Missense_Mutation_p.I56T|RCAN2_uc003oyd.2_Missense_Mutation_p.I102T	NM_001251974	NP_001238903	Q14206	RCAN2_HUMAN	Homo sapiens regulator of calcineurin 2 (RCAN2), transcript variant 2, mRNA.	56					calcium-mediated signaling|central nervous system development		nucleotide binding|protein phosphatase 2B binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						GCTGAAGTTTATACGGACACG	0.408000														20			26		0	0	1	0	0
FAT2	2196	broad.mit.edu	37	5	150922829	150922829	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:150922829A>G	uc003lue.4	-	8	7872	c.7859T>C	c.(7858-7860)gTc>gCc	p.V2620A		NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	2620	Cadherin 23.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGAGTAGGTGACATCTGCGTT	0.463000														165			15		0	0	1	0	0
SLC16A5	9121	broad.mit.edu	37	17	73089920	73089920	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:73089920C>A	uc002jmr.3	+	2	561	c.189C>A	c.(187-189)ctC>ctA	p.L63L	SLC16A5_uc002jmt.3_Silent_p.L63L|SLC16A5_uc002jmu.3_Silent_p.L63L|SLC16A5_uc010wrt.2_Silent_p.L103L	NM_004695	NP_004686	O15375	MOT6_HUMAN	Homo sapiens solute carrier family 16, member 5 (monocarboxylic acid transporter 6) (SLC16A5), mRNA.	63					organic anion transport	integral to plasma membrane|membrane fraction	secondary active monocarboxylate transmembrane transporter activity|symporter activity			central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	all_lung(278;0.226)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		Pyruvic acid(DB00119)	CGGCTGTGCTCCACATGGCAG	0.592000														87			6		0.0215528	0.0220531	1	1	0
IL1RL1	9173	broad.mit.edu	37	2	102958715	102958715	+	Missense_Mutation	SNP	G	A	A	rs75320001	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:102958715G>A	uc002tbu.1	+	5	914	c.643G>A	c.(643-645)Gga>Aga	p.G215R	IL1RL1_uc010ywa.2_Missense_Mutation_p.G98R|IL18R1_uc002tbw.4_Intron|IL1RL1_uc002tbv.3_Missense_Mutation_p.G215R	NM_016232	NP_057316	Q01638	ILRL1_HUMAN	Homo sapiens interleukin 1 receptor-like 1 (IL1RL1), transcript variant 1, mRNA.	215	Ig-like C2-type 3.				innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity	p.G215R(2)		NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						TCCAGTAATCGGAGCCCCTGC	0.338000														35			22		0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3235911	3235911	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:3235911G>A	uc004crg.4	-	5	5968	c.5811C>T	c.(5809-5811)gaC>gaT	p.D1937D		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	1937	Ig-like C2-type 3.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CCACCATCCTGTCCAGGCCGT	0.537000														59			6		0	0	1	0	0
PAN2	9924	broad.mit.edu	37	12	56718252	56718252	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56718252C>T	uc001skx.3	-	11	2131	c.1754G>A	c.(1753-1755)cGt>cAt	p.R585H	PAN2_uc001skw.3_5'Flank|PAN2_uc001sky.3_Missense_Mutation_p.R585H|PAN2_uc001skz.3_Missense_Mutation_p.R585H	NM_001127460	NP_001120932	Q504Q3	PAN2_HUMAN	Homo sapiens PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae) (PAN2), transcript variant 1, mRNA.	585					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						AGGAATAGTACGGAATGCCCG	0.502000														51			4		0	0	1	0	0
COBL	23242	broad.mit.edu	37	7	51152918	51152918	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:51152918A>G	uc003tps.3	-	6	1226	c.1041T>C	c.(1039-1041)agT>agC	p.S347S	COBL_uc003tpr.4_Silent_p.S347S|COBL_uc011kcl.2_Silent_p.S347S|COBL_uc010kzc.3_Silent_p.S347S|COBL_uc003tpt.3_Silent_p.S347S|COBL_uc003tpp.4_Silent_p.S76S|COBL_uc003tpq.4_Silent_p.S288S	NM_015198	NP_056013	O75128	COBL_HUMAN	Homo sapiens cordon-bleu homolog (mouse) (COBL), mRNA.	311	Pro-rich.									NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					GGATCAGGGGACTCGGTGGTG	0.572000														55			14		0	0	1	0	0
NLRX1	79671	broad.mit.edu	37	11	119051903	119051903	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:119051903C>A	uc001pvu.3	+	7	2506	c.2291C>A	c.(2290-2292)cCt>cAt	p.P764H	NLRX1_uc010rzc.1_Missense_Mutation_p.P586H|NLRX1_uc001pvv.3_Missense_Mutation_p.P764H|NLRX1_uc001pvw.3_Missense_Mutation_p.P764H|NLRX1_uc001pvx.3_Missense_Mutation_p.P764H	NM_024618	NP_078894	Q86UT6	NLRX1_HUMAN	Homo sapiens NLR family member X1 (NLRX1), transcript variant 1, mRNA.	764	Required for the repression of MAVS- induced interferon signaling.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		AGCCTGGGCCCTGAGGCCTGC	0.607000														55			5		0.00116845	0.00123466	1	1	0
PROM2	150696	broad.mit.edu	37	2	95941712	95941712	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:95941712C>A	uc002suk.3	+	2	462	c.329C>A	c.(328-330)gCt>gAt	p.A110D	PROM2_uc002suh.2_Missense_Mutation_p.A110D|PROM2_uc002sui.3_Missense_Mutation_p.A110D|PROM2_uc002suj.3_5'UTR|PROM2_uc002sul.3_5'UTR	NM_001165977	NP_653308	Q8N271	PROM2_HUMAN	Homo sapiens prominin 2 (PROM2), transcript variant 2, mRNA.	110						apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						GTGGTATGCGCTGTGATCGCG	0.692000														9			3		0.0293803	0.0299714	1	1	0
MEA1	4201	broad.mit.edu	37	6	42980865	42980865	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:42980865C>A	uc003otk.3	-	1	358	c.291G>T	c.(289-291)caG>caT	p.Q97H	MEA1_uc010jyc.1_Missense_Mutation_p.Q84H|KLHDC3_uc003otl.3_5'Flank|KLHDC3_uc003otn.3_5'Flank|KLHDC3_uc003otm.3_5'Flank|KLHDC3_uc021yzr.1_5'Flank	NM_014623	NP_055438	Q16626	MEA1_HUMAN	Homo sapiens male-enhanced antigen 1 (MEA1), mRNA.	97					cell differentiation|male gonad development|spermatogenesis		protein binding			central_nervous_system(1)|large_intestine(3)|lung(1)|skin(1)	6			Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			GGATTCGATCCTGGATGTCAG	0.577000														56			41		2.95478e-19	3.80036e-19	1	1	0
KIAA1586	57691	broad.mit.edu	37	6	56918203	56918203	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:56918203G>T	uc003pdj.3	+	3	1076	c.906G>T	c.(904-906)aaG>aaT	p.K302N	KIAA1586_uc011dxm.2_Missense_Mutation_p.K275N	NM_020931	NP_065982	Q9HCI6	K1586_HUMAN	Homo sapiens KIAA1586 (KIAA1586), mRNA.	302							nucleic acid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)	18	Lung NSC(77;0.0969)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			TGAAGATGAAGATATTTAAGA	0.313000														28			19		7.41877e-09	8.75093e-09	1	1	0
LZTFL1	54585	broad.mit.edu	37	3	45870074	45870074	+	Nonsense_Mutation	SNP	C	A	A	rs146835760		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:45870074C>A	uc003cox.1	-	7	772	c.634G>T	c.(634-636)Gaa>Taa	p.E212*	LZTFL1_uc003coy.1_Nonsense_Mutation_p.E195*|LZTFL1_uc011bak.1_Non-coding_Transcript	NM_020347	NP_065080	Q9NQ48	LZTL1_HUMAN	Homo sapiens leucine zipper transcription factor-like 1 (LZTFL1), mRNA.	212										endometrium(1)|large_intestine(2)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	8				BRCA - Breast invasive adenocarcinoma(193;0.00867)|KIRC - Kidney renal clear cell carcinoma(197;0.0177)|Kidney(197;0.0208)		ACAGTGTTTTCTAAGTTACTT	0.358000														56			30		1.7881e-09	2.13289e-09	1	1	0
ZNF518B	85460	broad.mit.edu	37	4	10445301	10445301	+	Silent	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:10445301A>C	uc003gmn.3	-	2	3139	c.2652T>G	c.(2650-2652)ctT>ctG	p.L884L	ZNF518B_uc021xme.1_Silent_p.L884L	NM_053042	NP_444270	Q9C0D4	Z518B_HUMAN	Homo sapiens zinc finger protein 518B (ZNF518B), mRNA.	884					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						TACTTATAGAAAGACTTCTGG	0.398000														52			20		0	0	1	0	0
ADCK1	57143	broad.mit.edu	37	14	78392212	78392212	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:78392212G>A	uc001xui.3	+	8	1213	c.1114G>A	c.(1114-1116)Gat>Aat	p.D372N	ADCK1_uc010tvo.1_Non-coding_Transcript|ADCK1_uc001xuj.3_Missense_Mutation_p.D304N|ADCK1_uc001xul.3_Missense_Mutation_p.D79N	NM_020421	NP_065154	Q86TW2	ADCK1_HUMAN	Homo sapiens aarF domain containing kinase 1 (ADCK1), transcript variant 1, mRNA.	379	Protein kinase.					extracellular region	ATP binding|protein serine/threonine kinase activity	p.G372D(1)|p.R371H(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2)	25			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)		GGGAGCCGGGGATCTCTACCC	0.587000														97			60		0	0	1	0	0
SCUBE1	80274	broad.mit.edu	37	22	43654256	43654256	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:43654256G>A	uc003bdt.2	-	5	823	c.696C>T	c.(694-696)taC>taT	p.Y232Y	SCUBE1_uc003bdu.2_Silent_p.Y232Y	NM_173050	NP_766638	Q8IWY4	SCUB1_HUMAN	Homo sapiens signal peptide, CUB domain, EGF-like 1 (SCUBE1), mRNA.	232					adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				AGTGGAGGGCGTACTTCTGGT	0.617000														24			28		0	0	1	0	0
ROS1	6098	broad.mit.edu	37	6	117892043	117892043	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:117892043C>A	uc003pxu.3	-	5	1146	c.892G>T	c.(892-894)Ggc>Tgc	p.G298C	ROS1_uc003pxq.1_Missense_Mutation_p.G71C|ROS1_uc003pxv.3_Missense_Mutation_p.G290C	NM_020399	NP_065132	P08922	ROS_HUMAN	Homo sapiens golgi-associated PDZ and coiled-coil motif containing (GOPC), transcript variant 1, mRNA.	0					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.K298*(1)	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		ATGCCAAGGCCTTCATGATCT	0.378000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""									50			4		1	1	1	1	0
CPA2	1358	broad.mit.edu	37	7	129915044	129915044	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:129915044G>A	uc003vpq.3	+	5	561	c.542G>A	c.(541-543)cGa>cAa	p.R181Q	CPA2_uc011kpc.1_Missense_Mutation_p.R181Q	NM_001869	NP_001860	P48052	CBPA2_HUMAN	Homo sapiens carboxypeptidase A2 (pancreatic) (CPA2), mRNA.	181	Substrate binding (By similarity).				proteolysis|vacuolar protein catabolic process	extracellular region|vacuole	metallocarboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Melanoma(18;0.0435)					ATCCATGCTCGAGAGTGGGTT	0.517000														64			4		0	0	1	0	0
PDE6C	5146	broad.mit.edu	37	10	95422400	95422400	+	Splice_Site	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:95422400G>A	uc001kiu.4	+	20	2505	c.2367_splice	c.e20+1	p.K789_splice		NM_006204	NP_006195	P51160	PDE6C_HUMAN	Homo sapiens phosphodiesterase 6C, cGMP-specific, cone, alpha prime (PDE6C), mRNA.	789					visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)				TTGTATATAAGGTAAGTAAGC	0.289000														14			10		0	0	1	0	0
TNNC1	7134	broad.mit.edu	37	3	52485835	52485835	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52485835A>G	uc003deb.3	-	3	268	c.242T>C	c.(241-243)aTg>aCg	p.M81T		NM_003280	NP_003271	P63316	TNNC1_HUMAN	Homo sapiens troponin C type 1 (slow) (TNNC1), mRNA.	81	EF-hand 2.				cardiac muscle contraction|muscle filament sliding|regulation of ATPase activity|regulation of muscle filament sliding speed|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin filament binding|calcium ion binding|calcium-dependent protein binding|protein homodimerization activity|troponin I binding|troponin T binding			endometrium(1)|lung(3)|ovary(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00175)|KIRC - Kidney renal clear cell carcinoma(197;0.00198)|OV - Ovarian serous cystadenocarcinoma(275;0.0525)	Bepridil(DB01244)|Dihydroxyaluminium(DB01375)|Levosimendan(DB00922)	GCACCGAACCATCATGACCAG	0.577000														52			4		0	0	1	0	0
GPR63	81491	broad.mit.edu	37	6	97247454	97247454	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:97247454C>T	uc010kcl.3	-	2	632	c.154G>A	c.(154-156)Gct>Act	p.A52T	GPR63_uc003pou.3_Missense_Mutation_p.A52T|GPR63_uc021zcy.1_Missense_Mutation_p.A52T	NM_001143957	NP_001137429	Q9BZJ6	GPR63_HUMAN	Homo sapiens G protein-coupled receptor 63 (GPR63), transcript variant 1, mRNA.	52						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			kidney(1)|large_intestine(5)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721)		BRCA - Breast invasive adenocarcinoma(108;0.0912)		CCAGTGGGAGCCATGGTTTCA	0.448000														35			11		0	0	1	0	0
FREM1	158326	broad.mit.edu	37	9	14770771	14770771	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:14770771T>C	uc003zlm.3	-	26	5707	c.4891A>G	c.(4891-4893)Aca>Gca	p.T1631A	FREM1_uc010mic.3_Intron|FREM1_uc003zlk.3_Non-coding_Transcript|FREM1_uc003zll.3_Missense_Mutation_p.T167A	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.	1631					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TGCAAGAGTGTGATACGAGGA	0.493000														16			11		0	0	1	0	0
PROM2	150696	broad.mit.edu	37	2	95950734	95950734	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:95950734G>A	uc002suk.3	+	14	1879	c.1746G>A	c.(1744-1746)cgG>cgA	p.R582R	PROM2_uc002suh.2_Silent_p.R582R|PROM2_uc002sui.3_Silent_p.R582R|PROM2_uc002suj.3_Silent_p.R236R|PROM2_uc002sul.3_Silent_p.R108R|PROM2_uc002sum.3_Intron	NM_001165977	NP_653308	Q8N271	PROM2_HUMAN	Homo sapiens prominin 2 (PROM2), transcript variant 2, mRNA.	582						apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						ACAAGCTACGGCAGGAGTTGC	0.632000														8			4		0	0	1	0	0
TRPV4	59341	broad.mit.edu	37	12	110224598	110224598	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:110224598G>A	uc001tpj.2	-	12	2348	c.2253C>T	c.(2251-2253)ttC>ttT	p.F751F	TRPV4_uc001tpg.2_Silent_p.F717F|TRPV4_uc021rdp.1_Silent_p.F691F|TRPV4_uc001tph.2_Silent_p.F704F|TRPV4_uc001tpi.2_Silent_p.F644F|TRPV4_uc001tpk.2_Silent_p.F751F	NM_021625	NP_067638	Q9HBA0	TRPV4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 4 (TRPV4), transcript variant 1, mRNA.	751					actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	SH2 domain binding|actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						CCTTCCTCAGGAATACGGGGA	0.662000														29			3		0	0	1	0	0
MAML3	55534	broad.mit.edu	37	4	140641415	140641415	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:140641415G>A	uc021xsg.1	-	4	3231	c.2479C>T	c.(2479-2481)Cgg>Tgg	p.R827W	MGST2_uc021xsf.1_Intron|MGST2_uc010ioi.1_Intron|MAML3_uc011chd.1_Missense_Mutation_p.R290W	NM_018717	NP_061187	Q96JK9	MAML3_HUMAN	Homo sapiens mastermind-like 3 (Drosophila) (MAML3), mRNA.	823	Gln-rich.				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					GCCATCAGCCGTGACGTTCGC	0.587000														57			37		0	0	1	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72139292	72139292	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:72139292G>A	uc001xms.3	+	8	3418	c.3057G>A	c.(3055-3057)acG>acA	p.T1019T	SIPA1L1_uc001xmt.3_Silent_p.T1019T|SIPA1L1_uc001xmu.3_Silent_p.T1019T|SIPA1L1_uc001xmv.3_Silent_p.T1019T|SIPA1L1_uc010ttm.2_Silent_p.T494T	NM_015556	NP_056371	O43166	SI1L1_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 1 (SIPA1L1), mRNA.	1019	PDZ.				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity	p.T1019M(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		CATCTGTCACGGTGAAGGTTG	0.592000														24			15		0	0	1	0	0
GALNT6	11226	broad.mit.edu	37	12	51758007	51758007	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:51758007C>T	uc001ryk.2	-	4	1172	c.947G>A	c.(946-948)aGa>aAa	p.R316K	GALNT6_uc009zma.1_Non-coding_Transcript|GALNT6_uc001ryl.1_Missense_Mutation_p.R316K	NM_007210	NP_009141	Q8NCL4	GALT6_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6) (GALNT6), mRNA.	316					protein O-linked glycosylation	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						GCTATGGACTCTGCCCCTCTG	0.557000														36			20		0	0	1	0	0
OR2B2	81697	broad.mit.edu	37	6	27880070	27880070	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:27880070G>A	uc011dkw.2	-	0	105	c.28C>T	c.(28-30)Cag>Tag	p.Q10*		NM_033057	NP_149046	Q9GZK3	OR2B2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily B, member 2 (OR2B2), mRNA.	10					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P9T(1)		cervix(1)|endometrium(4)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	22						ATGAACTCCTGTGGGACACTC	0.368000														43			35		0	0	1	0	0
NID1	4811	broad.mit.edu	37	1	236175274	236175274	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:236175274G>A	uc001hxo.3	-	11	2576	c.2474C>T	c.(2473-2475)aCg>aTg	p.T825M	NID1_uc009xgd.3_Intron|NID1_uc009xgc.3_5'UTR	NM_002508	NP_002499	P14543	NID1_HUMAN	Homo sapiens nidogen 1 (NID1), mRNA.	825	EGF-like 5; calcium-binding (Potential).				cell-matrix adhesion	basement membrane	calcium ion binding			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	GCACTGGCACGTGAAAGAGCC	0.567000														23			21		0	0	1	0	0
RCOR3	55758	broad.mit.edu	37	1	211444642	211444642	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:211444642G>T	uc010psw.2	+	2	487	c.292G>T	c.(292-294)Gat>Tat	p.D98Y	RCOR3_uc010psv.1_Non-coding_Transcript|RCOR3_uc001hie.3_Missense_Mutation_p.D98Y|RCOR3_uc001hif.3_Missense_Mutation_p.D98Y|RCOR3_uc001hig.3_Missense_Mutation_p.D40Y	NM_001136223	NP_060724	Q9P2K3	RCOR3_HUMAN	Homo sapiens REST corepressor 3 (RCOR3), transcript variant 1, mRNA.	40	SANT 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.00961)|all cancers(67;0.0999)|Epithelial(68;0.171)		CAGTATCCCAGATGCCAAATG	0.358000														37			17		1.87028e-06	2.11959e-06	1	1	0
TPP1	1200	broad.mit.edu	37	11	6640080	6640080	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6640080G>A	uc001mel.1	-	2	217	c.156C>T	c.(154-156)gcC>gcT	p.A52A	TPP1_uc001mek.1_5'UTR|TPP1_uc010rar.1_Silent_p.A52A	NM_000391	NP_000382	O14773	TPP1_HUMAN	Homo sapiens tripeptidyl peptidase I (TPP1), mRNA.	52					bone resorption|cell death|lipid metabolic process|lysosome organization|nervous system development|neuromuscular process controlling balance|peptide catabolic process|protein catabolic process|proteolysis	lysosome|melanosome|soluble fraction	metal ion binding|peptide binding|protein binding|serine-type endopeptidase activity|tripeptidyl-peptidase activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;3.45e-09)|BRCA - Breast invasive adenocarcinoma(625;0.131)		GCTGTCTCAGGGCAAAGGTGA	0.607000														54			32		0	0	1	0	0
RPGRIP1	57096	broad.mit.edu	37	14	21794202	21794202	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:21794202C>A	uc001wag.3	+	15	2580	c.2580C>A	c.(2578-2580)gaC>gaA	p.D860E	RPGRIP1_uc001wah.3_Missense_Mutation_p.D502E|RPGRIP1_uc001wai.3_Intron|RPGRIP1_uc001wak.3_Missense_Mutation_p.D335E|RPGRIP1_uc010aim.3_Missense_Mutation_p.D243E|RPGRIP1_uc001wal.3_Missense_Mutation_p.D219E|RPGRIP1_uc001wam.3_Missense_Mutation_p.D177E	NM_020366	NP_065099	Q96KN7	RPGR1_HUMAN	Homo sapiens retinitis pigmentosa GTPase regulator interacting protein 1 (RPGRIP1), mRNA.	860	C2.				response to stimulus|visual perception	cilium				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		TGACCTCTGACCTGGACCATT	0.502000														21			6		0.0215528	0.0220531	1	1	0
ERCC6L	54821	broad.mit.edu	37	X	71425010	71425010	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:71425010G>T	uc004eaq.1	-	1	3704	c.3607C>A	c.(3607-3609)Ctt>Att	p.L1203I	PIN4_uc004eao.2_Intron|ERCC6L_uc004eap.1_Missense_Mutation_p.L1080I	NM_017669	NP_060139	Q2NKX8	ERC6L_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 6-like (ERCC6L), mRNA.	1203					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol	ATP binding|DNA binding|helicase activity|protein binding			breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38	Renal(35;0.156)					CGCTTTACAAGAGTCTCATAG	0.463000														66			6		0.0215528	0.0220531	1	1	0
TEP1	7011	broad.mit.edu	37	14	20852291	20852291	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:20852291C>T	uc001vxe.3	-	23	3480	c.3440G>A	c.(3439-3441)cGc>cAc	p.R1147H	TEP1_uc010ahk.3_Missense_Mutation_p.R497H|TEP1_uc010tlf.1_Non-coding_Transcript|TEP1_uc010tlg.1_Missense_Mutation_p.R1039H|TEP1_uc010tlh.1_5'Flank	NM_007110	NP_009041	Q99973	TEP1_HUMAN	Homo sapiens telomerase-associated protein 1 (TEP1), mRNA.	1147					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CTGAAGAAGGCGTGGCCGGGC	0.647000														31			24		0	0	1	0	0
ECT2L	345930	broad.mit.edu	37	6	139202188	139202188	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:139202188T>G	uc003qif.2	+	14	2085	c.1760T>G	c.(1759-1761)aTt>aGt	p.I587S	ECT2L_uc021zfx.1_Missense_Mutation_p.I587S|ECT2L_uc011edq.1_Missense_Mutation_p.I518S	NM_001077706	NP_001181966	Q008S8	ECT2L_HUMAN	Homo sapiens epithelial cell transforming sequence 2 oncogene-like (ECT2L), transcript variant 1, mRNA.	587	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						ATACTGGAAATTGTGAGAGAT	0.428000			"""N, Splice, Mis"""		ETP ALL									33			5		0	0	1	0	0
RAB19	401409	broad.mit.edu	37	7	140125904	140125904	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:140125904T>C	uc010lni.2	+	3	806	c.608T>C	c.(607-609)gTt>gCt	p.V203A	RAB19_uc011krc.1_Missense_Mutation_p.V203A	NM_001008749	NP_001008749	A4D1S5	RAB19_HUMAN	Homo sapiens RAB19, member RAS oncogene family (RAB19), mRNA.	203					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			breast(3)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	9	Melanoma(164;0.0142)					TCCAGCCCCGTTCTTATGGCC	0.577000														94			9		0	0	1	0	0
LIMK2	3985	broad.mit.edu	37	22	31654373	31654373	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:31654373C>T	uc003akh.3	+	2	358	c.213C>T	c.(211-213)ttC>ttT	p.F71F	LIMK2_uc003aki.3_Intron|LIMK2_uc003akj.3_Silent_p.F50F|LIMK2_uc003akk.3_Silent_p.F50F|LIMK2_uc011aln.2_5'UTR	NM_005569	NP_005560	P53671	LIMK2_HUMAN	Homo sapiens LIM domain kinase 2 (LIMK2), transcript variant 2a, mRNA.	71						mitochondrion|nucleus	ATP binding|protein serine/threonine kinase activity|zinc ion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						TTGGGGAGTTCTGTCATGGGT	0.517000														35			30		0	0	1	0	0
INO80	54617	broad.mit.edu	37	15	41347563	41347563	+	Splice_Site	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:41347563C>A	uc001zni.3	-	18	2284	c.2071_splice	c.e18-1	p.L691_splice	INO80_uc010ucu.2_Splice_Site	NM_017553	NP_060023	Q9ULG1	INO80_HUMAN	Homo sapiens INO80 homolog (S. cerevisiae) (INO80), mRNA.	691	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.|Helicase ATP-binding.				UV-damage excision repair|cell division|cellular response to UV|cellular response to ionizing radiation|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of DNA replication involved in S phase|positive regulation of cell growth|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly	Ino80 complex|microtubule	ATP binding|ATPase activity|DNA binding|DNA helicase activity|actin binding|alpha-tubulin binding			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						GAGCCCAAAGCTGTAAACAAA	0.353000														30			7		0.000157383	0.000170012	1	1	0
CEP128	145508	broad.mit.edu	37	14	81307033	81307033	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:81307033T>G	uc001xux.2	-	8	1013	c.842A>C	c.(841-843)aAg>aCg	p.K281T	CEP128_uc001xuz.2_Missense_Mutation_p.K281T|CEP128_uc001xuy.1_Missense_Mutation_p.K139T	NM_152446	NP_689659	Q6ZU80	CE128_HUMAN	Homo sapiens centrosomal protein 128kDa (CEP128), mRNA.	281						centriole|spindle pole				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						TACTTGATTCTTCTCAGTTTC	0.373000														77			44		0	0	1	0	0
CDH1	999	broad.mit.edu	37	16	68847221	68847221	+	Missense_Mutation	SNP	G	T	T	rs143727462	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:68847221G>T	uc002ewg.1	+	8	1267	c.1143G>T	c.(1141-1143)aaG>aaT	p.K381N	CDH1_uc010vlj.1_Non-coding_Transcript|CDH1_uc010cfg.1_Intron	NM_004360	NP_004351	P12830	CADH1_HUMAN	Homo sapiens cadherin 1, type 1, E-cadherin (epithelial) (CDH1), mRNA.	381	Cadherin 3.				adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	Golgi apparatus|actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding	p.Y380_K440del(7)|p.?(1)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		TGCAGTACAAGGGTCAGGTGC	0.493000			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer					46			37		1.57351e-24	2.05502e-24	1	1	0
DHX38	9785	broad.mit.edu	37	16	72130083	72130083	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:72130083G>A	uc002fcb.3	+	1	382	c.27G>A	c.(25-27)tcG>tcA	p.S9S	TXNL4B_uc010cgl.2_5'Flank|TXNL4B_uc002fca.3_5'Flank|TXNL4B_uc010vmn.2_5'Flank|TXNL4B_uc010vmo.2_5'Flank|DHX38_uc010vmp.2_Silent_p.S9S|DHX38_uc010cgn.1_5'Flank	NM_014003	NP_054722	Q92620	PRP16_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 38 (DHX38), mRNA.	9					mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				AGGATGCCTCGATCCATCGAT	0.517000														32			19		0	0	1	0	0
DAPK2	23604	broad.mit.edu	37	15	64231494	64231494	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:64231494G>T	uc002amr.3	-	4	551	c.520C>A	c.(520-522)Ctg>Atg	p.L174M	DAPK2_uc010uim.2_Non-coding_Transcript|DAPK2_uc010bgu.1_Missense_Mutation_p.L164M	NM_014326	NP_055141	Q9UIK4	DAPK2_HUMAN	Homo sapiens death-associated protein kinase 2 (DAPK2), mRNA.	174	Protein kinase.				apoptosis|induction of apoptosis|intracellular protein kinase cascade	cytoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|identical protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	11				LUAD - Lung adenocarcinoma(2;0.215)		TCGTGAGCCAGACCAAAGTCA	0.368000														62			34		2.19358e-23	2.85789e-23	1	1	0
CDH10	1008	broad.mit.edu	37	5	24509872	24509872	+	Silent	SNP	G	A	A	rs144567766	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:24509872G>A	uc003jgr.2	-	6	1565	c.1059C>T	c.(1057-1059)acC>acT	p.T353T	CDH10_uc011cnu.2_Non-coding_Transcript	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	Homo sapiens cadherin 10, type 2 (T2-cadherin) (CDH10), mRNA.	353	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		GATCTACATGGGTGTTTTCTG	0.368000										HNSCC(23;0.051)				35			22		0	0	1	0	0
COG7	91949	broad.mit.edu	37	16	23428437	23428437	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:23428437A>G	uc002dlo.3	-	8	1340	c.1143T>C	c.(1141-1143)caT>caC	p.H381H		NM_153603	NP_705831	P83436	COG7_HUMAN	Homo sapiens component of oligomeric golgi complex 7 (COG7), mRNA.	381					intracellular protein transport|protein glycosylation|protein localization in Golgi apparatus|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.0401)		TCACTTCCCCATGCTCCTGGT	0.493000														41			4		0	0	1	0	0
HPS4	89781	broad.mit.edu	37	22	26868841	26868841	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:26868841C>A	uc003acl.3	-	4	1000	c.341G>T	c.(340-342)gGa>gTa	p.G114V	HPS4_uc003aci.3_Missense_Mutation_p.G109V|HPS4_uc003acj.3_5'UTR|HPS4_uc003ack.3_5'UTR|HPS4_uc003acn.3_5'UTR|HPS4_uc010gvd.1_Missense_Mutation_p.G114V|HPS4_uc003ach.3_5'Flank	NM_022081	NP_071364	Q9NQG7	HPS4_HUMAN	Homo sapiens Hermansky-Pudlak syndrome 4 (HPS4), transcript variant 1, mRNA.	114					lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting	lysosome|melanosome|membrane fraction|platelet dense granule	protein homodimerization activity			breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	32						ATTAAAGAATCCAACTAGCTG	0.458000									Hermansky-Pudlak syndrome					53			26		1.7881e-09	2.13289e-09	1	1	0
GYG2	8908	broad.mit.edu	37	X	2761277	2761277	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:2761277C>T	uc004cqs.1	+	3	406	c.124C>T	c.(124-126)Cta>Tta	p.L42L	GYG2_uc004cqu.1_Silent_p.L11L|GYG2_uc004cqx.2_Silent_p.L42L|GYG2_uc004cqt.1_Silent_p.L11L|GYG2_uc004cqv.1_Intron|GYG2_uc004cqw.1_Intron	NM_003918	NP_003909	O15488	GLYG2_HUMAN	Homo sapiens glycogenin 2 (GYG2), transcript variant 2, mRNA.	42					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|soluble fraction	glycogenin glucosyltransferase activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TTTTGTCACACTAGCCACCAA	0.552000														23			15		0	0	1	0	0
RGP1	9827	broad.mit.edu	37	9	35750902	35750902	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:35750902G>A	uc011lpf.2	+	4	551	c.403G>A	c.(403-405)Gtc>Atc	p.V135I	GBA2_uc003zxw.3_5'Flank|GBA2_uc011lpd.2_5'Flank|GBA2_uc011lpb.1_5'Flank|GBA2_uc011lpc.1_5'Flank	NM_001080496	NP_001073965	Q92546	RGP1_HUMAN	Homo sapiens RGP1 retrograde golgi transport homolog (S. cerevisiae) (RGP1), mRNA.	135										cervix(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	14	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			AGTCAAGTACGTCTACAAACT	0.542000														28			16		0	0	1	0	0
RASEF	158158	broad.mit.edu	37	9	85615413	85615413	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:85615413C>A	uc004amo.1	-	10	1771	c.1510G>T	c.(1510-1512)Ggg>Tgg	p.G504W		NM_152573	NP_689786	Q8IZ41	RASEF_HUMAN	Homo sapiens RAS and EF-hand domain containing (RASEF), mRNA.	504					protein transport|small GTPase mediated signal transduction	perinuclear region of cytoplasm	GTP binding|calcium ion binding			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						CTAACAGACCCTTGGGGCTTC	0.448000														33			14		6.31663e-08	7.34157e-08	1	1	0
BTN2A1	11120	broad.mit.edu	37	6	26463635	26463635	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:26463635C>T	uc003nib.2	+	3	842	c.594C>T	c.(592-594)gaC>gaT	p.D198D	BTN2A1_uc021yni.1_Silent_p.D198D|BTN2A1_uc003nic.2_Silent_p.D198D|BTN2A1_uc011dko.2_Silent_p.D137D	NM_007049	NP_001184162	Q7KYR7	BT2A1_HUMAN	Homo sapiens butyrophilin, subfamily 2, member A1 (BTN2A1), transcript variant 1, mRNA.	198					lipid metabolic process	integral to plasma membrane				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(3)	27						CTGATGCAGACGGCCTCTTCA	0.557000														58			46		0	0	1	0	0
RASSF9	9182	broad.mit.edu	37	12	86198665	86198665	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:86198665A>G	uc001taf.1	-	1	1462	c.1123T>C	c.(1123-1125)Tgc>Cgc	p.C375R		NM_005447	NP_005438	O75901	RASF9_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) domain family (N-terminal) member 9 (RASSF9), mRNA.	375					endosome transport|protein targeting|signal transduction	cytosol|endosome|trans-Golgi network transport vesicle membrane	protein binding|transporter activity			endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TTTAACTGGCACCCATCTTTG	0.393000														121			42		0	0	1	0	0
FBN1	2200	broad.mit.edu	37	15	48829911	48829911	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:48829911G>T	uc001zwx.2	-	6	1028	c.633C>A	c.(631-633)gcC>gcA	p.A211A		NM_000138	NP_000129	P35555	FBN1_HUMAN	Homo sapiens fibrillin 1 (FBN1), mRNA.	211	TB 1.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		GGCCGACTGTGGCACAGCAGA	0.577000														83			12		4.3838e-07	5.01911e-07	1	1	0
SH3KBP1	30011	broad.mit.edu	37	X	19713850	19713850	+	Nonsense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:19713850C>A	uc004czm.3	-	4	716	c.400G>T	c.(400-402)Gga>Tga	p.G134*	SH3KBP1_uc004czl.3_Nonsense_Mutation_p.G97*	NM_031892	NP_114098	Q96B97	SH3K1_HUMAN	Homo sapiens SH3-domain kinase binding protein 1 (SH3KBP1), transcript variant 1, mRNA.	134	SH3 2.				apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome	SH3 domain binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						TCCCACCATCCTTCCTCTACC	0.473000														48			26		1.17739e-12	1.4548e-12	1	1	0
TEK	7010	broad.mit.edu	37	9	27192502	27192502	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:27192502T>C	uc011lno.2	+	9	1818	c.1376T>C	c.(1375-1377)gTt>gCt	p.V459A	TEK_uc003zqi.4_Missense_Mutation_p.V502A|TEK_uc011lnp.2_Missense_Mutation_p.V355A|TEK_uc003zqj.1_Missense_Mutation_p.V436A	NM_000459	NP_000450	Q02763	TIE2_HUMAN	Homo sapiens TEK tyrosine kinase, endothelial (TEK), mRNA.	502	Fibronectin type-III 1.				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		AATGAGATTGTTACACTCAAC	0.473000														56			46		0	0	1	0	0
ZFP3	124961	broad.mit.edu	37	17	4995471	4995471	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:4995471C>A	uc002gaq.3	+	1	797	c.672C>A	c.(670-672)ccC>ccA	p.P224P	ZFP3_uc021tog.1_Silent_p.P224P	NM_153018	NP_694563	Q96NJ6	ZFP3_HUMAN	Homo sapiens zinc finger protein 3 homolog (mouse) (ZFP3), mRNA.	224					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(3)|prostate(1)	20						GAGAGAGACCCTATAAATGTG	0.383000														70			6		0.248553	0.249802	1	1	0
BICD1	636	broad.mit.edu	37	12	32369275	32369275	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:32369275C>T	uc001rku.3	+	1	389	c.308C>T	c.(307-309)gCt>gTt	p.A103V	BICD1_uc001rkv.3_Missense_Mutation_p.A103V|BICD1_uc010skd.2_Non-coding_Transcript	NM_001714	NP_001705	Q96G01	BICD1_HUMAN	Homo sapiens bicaudal D homolog 1 (Drosophila) (BICD1), transcript variant 1, mRNA.	103					RNA processing|anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	Rab GTPase binding|cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|structural constituent of cytoskeleton			NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			TCGAAGGAGGCTTACTATCTG	0.547000														32			15		0	0	1	0	0
MFAP2	4237	broad.mit.edu	37	1	17303034	17303034	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:17303034C>T	uc001azw.3	-	5	381	c.248G>A	c.(247-249)gGa>gAa	p.G83E	MFAP2_uc001azx.3_Missense_Mutation_p.G82E|MFAP2_uc001azy.3_Missense_Mutation_p.G83E|MFAP2_uc010ocl.2_Missense_Mutation_p.G82E	NM_002403	NP_059453	P55001	MFAP2_HUMAN	Homo sapiens microfibrillar-associated protein 2 (MFAP2), transcript variant 2, mRNA.	83						microfibril				kidney(1)|lung(1)	2		Colorectal(325;3.46e-05)|Breast(348;0.000118)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000538)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|COAD - Colon adenocarcinoma(227;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;3.04e-05)|Kidney(64;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00544)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		CTCTGCATTTCCTGGTTCTGG	0.607000														37			19		0	0	1	0	0
METTL2A	339175	broad.mit.edu	37	17	60504004	60504004	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:60504004C>T	uc002izv.2	+	2	565	c.547C>T	c.(547-549)Cga>Tga	p.R183*	METTL2A_uc002izw.3_Nonsense_Mutation_p.R47*	NM_181725	NP_859076	Q96IZ6	MTL2A_HUMAN	Homo sapiens methyltransferase like 2A (METTL2A), mRNA.	183							methyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(1)|upper_aerodigestive_tract(2)	6			BRCA - Breast invasive adenocarcinoma(2;1.08e-10)			AGCCACCTACCGAATACTGGA	0.408000														9			9		0	0	1	0	0
YPEL5	51646	broad.mit.edu	37	2	30379582	30379582	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:30379582C>T	uc002rna.4	+	3	626	c.65C>T	c.(64-66)aCg>aTg	p.T22M	YPEL5_uc002rnb.4_Missense_Mutation_p.T22M|YPEL5_uc002rnc.4_Missense_Mutation_p.T22M|YPEL5_uc002rmz.4_Missense_Mutation_p.T22M|YPEL5_uc010ezn.3_Intron|YPEL5_uc002rnd.3_Missense_Mutation_p.T22M	NM_001127401	NP_057145	P62699	YPEL5_HUMAN	Homo sapiens yippee-like 5 (Drosophila) (YPEL5), transcript variant 1, mRNA.	22							peptide-methionine-(S)-S-oxide reductase activity			NS(1)|endometrium(1)|kidney(1)|lung(3)|prostate(1)	7	Acute lymphoblastic leukemia(172;0.155)					AACTGTGATACGATCCTGACC	0.428000														69			62		0	0	1	0	0
SLC18B1	116843	broad.mit.edu	37	6	133100435	133100435	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:133100435G>T	uc003qdw.1	-	6	919	c.767C>A	c.(766-768)cCt>cAt	p.P256H	SLC18B1_uc010kgd.1_Non-coding_Transcript|SLC18B1_uc011eco.1_Missense_Mutation_p.P130H	NM_052831	NP_439896	Q6NT16	CF192_HUMAN	Homo sapiens chromosome 6 open reading frame 192 (C6orf192), mRNA.	256					transmembrane transport	integral to membrane											AGACAGAGTAGGATCGAGGAA	0.473000														67			25		3.73808e-20	4.82081e-20	1	1	0
ADCK1	57143	broad.mit.edu	37	14	78365512	78365512	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:78365512A>G	uc001xui.3	+	5	751	c.652A>G	c.(652-654)Aag>Gag	p.K218E	ADCK1_uc010tvo.1_Non-coding_Transcript|ADCK1_uc001xuj.3_Missense_Mutation_p.K150E|ADCK1_uc001xuk.1_Missense_Mutation_p.K92E	NM_020421	NP_065154	Q86TW2	ADCK1_HUMAN	Homo sapiens aarF domain containing kinase 1 (ADCK1), transcript variant 1, mRNA.	225	Protein kinase.					extracellular region	ATP binding|protein serine/threonine kinase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2)	25			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)		TGAAGCCAAGAAGAACCTGCC	0.498000														74			8		0	0	1	0	0
COL17A1	1308	broad.mit.edu	37	10	105807859	105807859	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:105807859G>T	uc001kxr.3	-	29	2400	c.2231C>A	c.(2230-2232)cCt>cAt	p.P744H	MIR936_uc021pxp.1_Non-coding_Transcript	NM_000494	NP_000485	Q9UMD9	COHA1_HUMAN	Homo sapiens collagen, type XVII, alpha 1 (COL17A1), mRNA.	744	Triple-helical region.				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		TGGGCCAGCAGGACCTGGTAA	0.582000														239			12		2.27111e-07	2.61452e-07	1	1	0
SLC9A1	6548	broad.mit.edu	37	1	27426981	27426981	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:27426981G>A	uc001bnm.3	-	11	2891	c.2265C>T	c.(2263-2265)gaC>gaT	p.D755D	SLC9A1_uc001bnl.3_Silent_p.D259D|SLC9A1_uc010ofk.2_Silent_p.D416D	NM_003047	NP_003038	P19634	SL9A1_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 1 (SLC9A1), mRNA.	755					regulation of pH	integral to membrane	sodium:hydrogen antiporter activity			central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046)	Amiloride(DB00594)	CGTCGTCCTCGTCCTCCTCAG	0.617000														113			71		0	0	1	0	0
AKNAD1	254268	broad.mit.edu	37	1	109366029	109366029	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:109366029C>T	uc001dwa.3	-	12	2399	c.2130G>A	c.(2128-2130)caG>caA	p.Q710Q	AKNAD1_uc010ovb.2_Silent_p.Q417Q|AKNAD1_uc001dwb.3_Non-coding_Transcript	NM_152763	NP_689976	Q5T1N1	AKND1_HUMAN	Homo sapiens AKNA domain containing 1 (AKNAD1), mRNA.	710										breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						AAGAATGGGGCTGGACAAAGG	0.383000														112			36		0	0	1	0	0
PDHA2	5161	broad.mit.edu	37	4	96761689	96761689	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:96761689C>T	uc003htr.4	+	0	451	c.388C>T	c.(388-390)Cga>Tga	p.R130*		NM_005390	NP_005381	P29803	ODPAT_HUMAN	Homo sapiens pyruvate dehydrogenase (lipoamide) alpha 2 (PDHA2), mRNA.	130					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity	p.R130Q(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	ACTTTCTGTCCGATCCATTCT	0.512000														50			16		0	0	1	0	0
THAP9	79725	broad.mit.edu	37	4	83826058	83826058	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:83826058G>A	uc003hnt.2	+	1	369	c.250G>A	c.(250-252)Gct>Act	p.A84T	THAP9_uc003hns.1_5'UTR|THAP9_uc003hnu.1_Non-coding_Transcript|THAP9_uc003hnv.2_5'UTR	NM_024672	NP_078948	Q9H5L6	THAP9_HUMAN	Homo sapiens THAP domain containing 9 (THAP9), mRNA.	84							DNA binding|metal ion binding	p.G83fs*26(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3)	33		Hepatocellular(203;0.114)				GAAAAAAGGAGCTGTGCCTTC	0.353000														48			29		0	0	1	0	0
YIPF6	286451	broad.mit.edu	37	X	67741284	67741284	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:67741284G>A	uc004dwz.3	+	4	664	c.379G>A	c.(379-381)Gtc>Atc	p.V127I	YIPF6_uc011mph.2_Missense_Mutation_p.V84I	NM_173834	NP_776195	Q96EC8	YIPF6_HUMAN	Homo sapiens Yip1 domain family, member 6 (YIPF6), transcript variant A, mRNA.	127						endoplasmic reticulum|integral to membrane				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(1)	7						GTTTGTCATTGTCTGGTTTGG	0.418000														83			9		0	0	1	0	0
B3GNT2	10678	broad.mit.edu	37	2	62450246	62450246	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:62450246T>C	uc021vii.1	+	0	891	c.891T>C	c.(889-891)tcT>tcC	p.S297S	B3GNT2_uc002sbs.3_Silent_p.S297S	NM_006577	NP_006568	Q9NY97	B3GN2_HUMAN	Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2 (B3GNT2), mRNA.	297						Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)	18	Lung NSC(7;0.031)|all_lung(7;0.0634)		LUSC - Lung squamous cell carcinoma(7;3.55e-06)|Epithelial(17;0.0963)			TTGTTTACTCTGGCCTCTACC	0.532000														70			10		0	0	1	0	0
CLCNKA	1187	broad.mit.edu	37	1	16374411	16374411	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:16374411C>A	uc001axx.4	+	4	506	c.370C>A	c.(370-372)Ccg>Acg	p.P124T	CLCNKA_uc021ogl.1_Intron|CLCNKA_uc021ogm.1_5'Flank|CLCNKA_uc001axy.4_5'Flank	NM_000085	NP_000076	P51800	CLCKA_HUMAN	Homo sapiens chloride channel Kb (CLCNKB), transcript variant 1, mRNA.	124					excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	p.P124Q(2)|p.P124H(1)		breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	TTCTGGAATCCCGGAGGTGAA	0.547000														52			7		0.00307968	0.00322291	1	1	0
MMP20	9313	broad.mit.edu	37	11	102487664	102487664	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:102487664C>T	uc001phc.3	-	1	266	c.253G>A	c.(253-255)Ggg>Agg	p.G85R		NM_004771	NP_004762	O60882	MMP20_HUMAN	Homo sapiens matrix metallopeptidase 20 (MMP20), mRNA.	85					proteolysis|regulation of enamel mineralization	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|protein binding|zinc ion binding	p.G85W(2)|p.G85R(2)|p.T84N(1)		endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)		TCTAACTTCCCGGTGACTTGG	0.478000														34			17		0	0	1	0	0
ANKRD32	84250	broad.mit.edu	37	5	94024299	94024299	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:94024299G>A	uc003kkr.4	+	16	2290	c.2210G>A	c.(2209-2211)tGt>tAt	p.C737Y	ANKRD32_uc003kks.3_Missense_Mutation_p.C101Y	NM_032290	NP_115666	Q9BQI6	ANR32_HUMAN	Homo sapiens ankyrin repeat domain 32 (ANKRD32), mRNA.	737										NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	13		all_cancers(142;1.51e-09)|all_epithelial(76;4.68e-12)|all_lung(232;5.94e-05)|Ovarian(174;0.000953)|Lung NSC(167;0.00105)|Colorectal(57;0.122)|Lung SC(612;0.152)		all cancers(79;3.88e-18)		CAGCGGCCTTGTTTTGACTCT	0.428000														96			13		0	0	1	0	0
RALGPS1	9649	broad.mit.edu	37	9	129937013	129937013	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:129937013C>T	uc004bqo.2	+	10	1129	c.862C>T	c.(862-864)Cca>Tca	p.P288S	RALGPS1_uc022bno.1_Missense_Mutation_p.P288S|RALGPS1_uc011mab.2_Missense_Mutation_p.P288S|RALGPS1_uc011mac.2_Missense_Mutation_p.P288S|RALGPS1_uc004bqq.4_Missense_Mutation_p.P288S	NM_014636	NP_055451	Q5JS13	RGPS1_HUMAN	Homo sapiens Ral GEF with PH domain and SH3 binding motif 1 (RALGPS1), transcript variant 1, mRNA.	288	Ras-GEF.				small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity			kidney(2)|large_intestine(6)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						CAGAATCGAACCAGGAAGCAG	0.468000														89			53		0	0	1	0	0
CHSY1	22856	broad.mit.edu	37	15	101717621	101717621	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:101717621T>G	uc021sxt.1	-	2	2857	c.2381A>C	c.(2380-2382)aAt>aCt	p.N794T	CHSY1_uc010usd.2_Missense_Mutation_p.N522T	NM_014918	NP_055733	Q86X52	CHSS1_HUMAN	Homo sapiens chondroitin sulfate synthase 1 (CHSY1), mRNA.	794					chondroitin sulfate biosynthetic process	Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(5)|skin(1)	24	Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GCCATTATTATTGCTGCTTTT	0.388000														37			18		0	0	1	0	0
ZC3H6	376940	broad.mit.edu	37	2	113089840	113089840	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:113089840G>A	uc002thq.1	+	11	3739	c.3345G>A	c.(3343-3345)gcG>gcA	p.A1115A		NM_198581	NP_940983	P61129	ZC3H6_HUMAN	Homo sapiens zinc finger CCCH-type containing 6 (ZC3H6), mRNA.	1115							nucleic acid binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						ACCCACAGGCGGACGTTCCCA	0.527000														16			13		0	0	1	0	0
CEACAM8	1088	broad.mit.edu	37	19	43097933	43097933	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:43097933G>T	uc002oud.2	-	1	286	c.184C>A	c.(184-186)Cct>Act	p.P62T	AK311181_uc010eif.1_Intron|AK310497_uc010eig.1_Intron|AK310497_uc010eih.1_Intron	NM_001816	NP_001807	P31997	CEAM8_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 8 (CEACAM8), mRNA.	62	Ig-like V-type.				immune response	anchored to membrane|extracellular space|integral to plasma membrane				endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	16		Prostate(69;0.00899)				TAGCCACGAGGGTCCTGGGGC	0.507000														81			56		8.52622e-23	1.10848e-22	1	1	0
CAMKV	79012	broad.mit.edu	37	3	49896835	49896835	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49896835G>A	uc003cxt.1	-	10	1615	c.1422C>T	c.(1420-1422)ggC>ggT	p.G474G	TRAIP_uc003cxs.1_5'Flank|TRAIP_uc010hla.1_5'Flank|TRAIP_uc011bcx.2_5'Flank|CAMKV_uc011bcy.1_Silent_p.G399G|CAMKV_uc003cxv.1_Silent_p.G446G|CAMKV_uc003cxw.1_Silent_p.G306G|CAMKV_uc003cxx.1_Silent_p.G306G|CAMKV_uc003cxu.2_Silent_p.G443G|CAMKV_uc011bcz.1_Silent_p.G406G|CAMKV_uc011bda.1_Silent_p.G400G	NM_024046	NP_076951	Q8NCB2	CAMKV_HUMAN	Homo sapiens CaM kinase-like vesicle-associated (CAMKV), mRNA.	474	Ala-rich.					cytoplasmic vesicle membrane|plasma membrane	ATP binding|protein serine/threonine kinase activity			central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(2)	7				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		GGCCTGTGGCGCCCTCTGGGG	0.652000														47			22		0	0	1	0	0
SH3KBP1	30011	broad.mit.edu	37	X	19626117	19626117	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:19626117C>T	uc004czm.3	-	8	1260	c.944G>A	c.(943-945)cGa>cAa	p.R315Q	SH3KBP1_uc011mje.2_Missense_Mutation_p.R54Q|SH3KBP1_uc011mjf.2_Missense_Mutation_p.R77Q|SH3KBP1_uc004czl.3_Missense_Mutation_p.R278Q	NM_031892	NP_114098	Q96B97	SH3K1_HUMAN	Homo sapiens SH3-domain kinase binding protein 1 (SH3KBP1), transcript variant 1, mRNA.	315	SH3 3.				apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome	SH3 domain binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						GAACACGCCTCGTCTGCCGTT	0.527000														24			24		0	0	1	0	0
CEP170	9859	broad.mit.edu	37	1	243303270	243303270	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:243303270A>C	uc021plo.1	-	15	4607	c.4199T>G	c.(4198-4200)aTt>aGt	p.I1400S	CEP170_uc021plp.1_Missense_Mutation_p.I1276S|CEP170_uc021plq.1_Missense_Mutation_p.I1302S|CEP170_uc001hzr.3_5'UTR|CEP170_uc001hzv.1_Missense_Mutation_p.I752S	NM_014812	NP_055627	Q5SW79	CE170_HUMAN	Homo sapiens centrosomal protein 170kDa (CEP170), transcript variant alpha, mRNA.	1400	Targeting to centrosomes.|Targeting to microtubules.					centriole|microtubule|spindle				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			CCGCCTTGTAATTGTTAAGTG	0.428000														37			5		0	0	1	0	0
RP2	6102	broad.mit.edu	37	X	46713008	46713008	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:46713008G>A	uc004dgw.4	+	1	389	c.200G>A	c.(199-201)tGt>tAt	p.C67Y		NM_006915	NP_008846	O75695	XRP2_HUMAN	Homo sapiens retinitis pigmentosa 2 (X-linked recessive) (RP2), mRNA.	67	C-CAP/cofactor C-like.		C -> Y (in RP2).		CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process|cell morphogenesis|protein folding|visual perception	cytoplasm|plasma membrane	ATP binding|GTP binding|GTPase activator activity|nucleoside diphosphate kinase activity|unfolded protein binding			NS(1)|large_intestine(4)|lung(5)|stomach(1)	11						ATTCAAGACTGTGAGAACTGT	0.433000														122			17		0	0	1	0	0
CALCA	796	broad.mit.edu	37	11	14990358	14990358	+	Missense_Mutation	SNP	T	C	C	rs13306224	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:14990358T>C	uc001mlv.1	-	3	464	c.413A>G	c.(412-414)cAg>cGg	p.Q138R	CALCA_uc001mlt.2_Intron|CALCA_uc001mlu.2_Intron|CALCA_uc001mlw.1_Missense_Mutation_p.Q138R	NM_001741	NP_001732	P06881	CALCA_HUMAN	Homo sapiens calcitonin-related polypeptide alpha (CALCA), transcript variant 1, mRNA.	0					activation of adenylate cyclase activity|cell-cell signaling|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|endothelial cell migration|endothelial cell proliferation|leukocyte cell-cell adhesion|negative regulation of blood pressure|negative regulation of bone resorption|negative regulation of calcium ion transport into cytosol|negative regulation of osteoclast differentiation|neurological system process involved in regulation of systemic arterial blood pressure|positive regulation of interleukin-1 alpha production|positive regulation of interleukin-8 production|positive regulation of macrophage differentiation|positive regulation of vasodilation|regulation of blood pressure|vasculature development|vasodilation	cytosol|extracellular space	hormone activity			central_nervous_system(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	8					Phentolamine(DB00692)	GTTGGCATTCTGGGGCATGCT	0.493000														164			8		0	0	1	0	0
PGBD1	84547	broad.mit.edu	37	6	28268753	28268753	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:28268753G>A	uc003nky.3	+	6	1542	c.1122G>A	c.(1120-1122)caG>caA	p.Q374Q	PGBD1_uc003nkz.3_Silent_p.Q374Q	NM_032507	NP_115896	Q96JS3	PGBD1_HUMAN	Homo sapiens piggyBac transposable element derived 1 (PGBD1), transcript variant 2, mRNA.	374					viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						CTGAGATCCAGCCTGCTCAAA	0.433000														44			26		0	0	1	0	0
LONRF1	91694	broad.mit.edu	37	8	12594616	12594616	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:12594616C>T	uc003wwd.1	-	4	1210	c.1147G>A	c.(1147-1149)Gtc>Atc	p.V383I	LONRF1_uc011kxv.1_5'UTR|LONRF1_uc010lsp.1_5'UTR	NM_152271	NP_689484	Q17RB8	LONF1_HUMAN	Homo sapiens LON peptidase N-terminal domain and ring finger 1 (LONRF1), mRNA.	383					proteolysis		ATP-dependent peptidase activity|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19				READ - Rectum adenocarcinoma(644;0.236)		CTTCCTTTGACAGGCTCTGAA	0.388000														92			6		0	0	1	0	0
OPRL1	4987	broad.mit.edu	37	20	62729242	62729242	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:62729242G>T	uc002yic.3	+	3	740	c.321G>T	c.(319-321)caG>caT	p.Q107H	OPRL1_uc002yid.3_Missense_Mutation_p.Q107H|OPRL1_uc021wgs.1_Missense_Mutation_p.Q107H|OPRL1_uc002yif.4_Missense_Mutation_p.Q102H	NM_182647	NP_872588	P41146	OPRX_HUMAN	Homo sapiens opiate receptor-like 1 (OPRL1), transcript variant 1, mRNA.	107					elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception	integral to plasma membrane	X-opioid receptor activity|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)					TGCCCTTCCAGGGCACGGACA	0.547000														57			48		2.43468e-25	3.18552e-25	1	1	0
DYNC2H1	79659	broad.mit.edu	37	11	103048487	103048487	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:103048487C>T	uc001phn.1	+	37	6221	c.6077C>T	c.(6076-6078)aCa>aTa	p.T2026I	DYNC2H1_uc009yxe.1_Intron|DYNC2H1_uc001pho.2_Missense_Mutation_p.T2026I	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	Homo sapiens dynein, cytoplasmic 2, heavy chain 1 (DYNC2H1), transcript variant 2, mRNA.	2026	AAA 2 (By similarity).				Golgi organization|cell projection organization|microtubule-based movement|multicellular organismal development	Golgi apparatus|cilium axoneme|dynein complex|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		GACATGGACACAAGAGAATGG	0.393000														41			7		0	0	1	0	0
TTC37	9652	broad.mit.edu	37	5	94858910	94858910	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:94858910C>T	uc003klb.3	-	17	2050	c.1753G>A	c.(1753-1755)Gct>Act	p.A585T	TTC37_uc010jbf.2_Missense_Mutation_p.A537T	NM_014639	NP_055454	Q6PGP7	TTC37_HUMAN	Homo sapiens tetratricopeptide repeat domain 37 (TTC37), mRNA.	585							binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						CCTTACTCAGCCACTGCTTGA	0.398000														131			62		0	0	1	0	0
TTLL3	26140	broad.mit.edu	37	3	9876506	9876506	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:9876506G>T	uc003btg.3	+	11	2314	c.1838G>T	c.(1837-1839)aGg>aTg	p.R613M	TTLL3_uc003btd.4_3'UTR|TTLL3_uc003btc.2_Intron|TTLL3_uc003btf.4_3'UTR|TTLL3_uc010hco.1_3'UTR|TTLL3_uc003bth.4_Missense_Mutation_p.R401M|TTLL3_uc011atj.2_Missense_Mutation_p.R584M|TTLL3_uc003btj.4_3'UTR|TTLL3_uc003bti.4_Missense_Mutation_p.R401M	NM_001025930	NP_001021100	Q9Y4R7	TTLL3_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 3 (TTLL3), transcript variant 1, mRNA.	613					axoneme assembly|cilium assembly|protein polyglycylation	cilium axoneme|cytoplasm|microtubule	protein-glycine ligase activity, initiating|tubulin-tyrosine ligase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	Medulloblastoma(99;0.227)					AAGGCCTTGAGGACTCTACCC	0.592000														50			28		2.4375e-19	3.13598e-19	1	1	0
ITGB1BP1	9270	broad.mit.edu	37	2	9558819	9558819	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:9558819C>T	uc002qzj.3	-	1	185	c.8G>A	c.(7-9)cGc>cAc	p.R3H	ITGB1BP1_uc002qzm.3_Non-coding_Transcript|ITGB1BP1_uc002qzk.3_Missense_Mutation_p.R3H|ITGB1BP1_uc002qzl.3_Non-coding_Transcript|ITGB1BP1_uc010yiy.2_Intron|ITGB1BP1_uc002qzn.1_Missense_Mutation_p.R3H	NM_004763	NP_004754	O14713	ITBP1_HUMAN	Homo sapiens integrin beta 1 binding protein 1 (ITGB1BP1), transcript variant 1, mRNA.	3					cell migration|cell-matrix adhesion|intracellular protein kinase cascade	cytosol|lamellipodium|membrane|ruffle	protein binding			kidney(2)|large_intestine(2)|lung(2)|prostate(2)	8	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.23)		TTTGCCCTTGCGAAACATTTT	0.373000														159			82		0	0	1	0	0
SH3RF2	153769	broad.mit.edu	37	5	145439660	145439660	+	Missense_Mutation	SNP	C	T	T	rs139582730		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:145439660C>T	uc003lnt.3	+	8	2025	c.1787C>T	c.(1786-1788)gCg>gTg	p.A596V	SH3RF2_uc011dbl.1_Missense_Mutation_p.A596V|SH3RF2_uc011dbm.1_Missense_Mutation_p.A81V|SH3RF2_uc003lnu.3_Missense_Mutation_p.A87V|SH3RF2_uc011dbn.1_Missense_Mutation_p.A87V|SH3RF2_uc011dbo.2_Missense_Mutation_p.A53V	NM_152550	NP_689763	Q8TEC5	SH3R2_HUMAN	Homo sapiens SH3 domain containing ring finger 2 (SH3RF2), mRNA.	596							ligase activity|protein phosphatase 1 binding|zinc ion binding	p.A596T(1)|p.S595F(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATCCACTCCGCGGCCAGCTCC	0.627000														31			29		0	0	1	0	0
TMEM39A	55254	broad.mit.edu	37	3	119176890	119176890	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:119176890T>G	uc003eck.1	-	2	674	c.311A>C	c.(310-312)aAt>aCt	p.N104T	TMEM39A_uc003ecl.1_5'UTR	NM_018266	NP_060736	Q9NV64	TM39A_HUMAN	Homo sapiens transmembrane protein 39A (TMEM39A), mRNA.	104						integral to membrane				NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	13				GBM - Glioblastoma multiforme(114;0.244)		AGCAGGATGATTGTAAGGATA	0.373000														97			12		0	0	1	0	0
HNRPLL	92906	broad.mit.edu	37	2	38795439	38795439	+	Splice_Site	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:38795439G>A	uc021vgc.1	-	12	1885	c.1475_splice	c.e12-1	p.P492_splice	HNRPLL_uc002rqv.3_Splice_Site_p.P187_splice|HNRPLL_uc021vgb.1_Splice_Site_p.P487_splice	NM_138394	NP_612403	Q8WVV9	HNRLL_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein L-like (HNRPLL), transcript variant 1, mRNA.	492					mRNA processing|positive regulation of RNA splicing	nucleus|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding			NS(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)|skin(2)	10		all_hematologic(82;0.248)				TTTGGCTGAAGCTAAAACAAA	0.388000														28			17		0	0	1	0	0
CNOT2	4848	broad.mit.edu	37	12	70726546	70726546	+	Splice_Site	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:70726546G>T	uc001svv.3	+	7	1152	c.570_splice	c.e7-1	p.S190_splice	CNOT2_uc009zro.3_Splice_Site_p.S190_splice|CNOT2_uc009zrp.3_Splice_Site_p.S170_splice|CNOT2_uc009zrq.3_Splice_Site_p.S190_splice	NM_014515	NP_055330	Q9NZN8	CNOT2_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 2 (CNOT2), transcript variant 2, mRNA.	190					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	RNA polymerase II transcription cofactor activity|protein binding			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(2)|urinary_tract(1)	20	Renal(347;0.236)		GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)			TATGTACCCAGTATGTCTGGA	0.318000														65			35		2.20474e-14	2.7607e-14	1	1	0
SPIRE2	84501	broad.mit.edu	37	16	89929992	89929992	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:89929992C>T	uc002foz.1	+	10	1736	c.1684C>T	c.(1684-1686)Ctc>Ttc	p.L562F	SPIRE2_uc010ciw.1_Missense_Mutation_p.L562F|SPIRE2_uc002fpa.1_Missense_Mutation_p.L514F|SPIRE2_uc010cix.1_Missense_Mutation_p.L429F	NM_032451	NP_115827	Q8WWL2	SPIR2_HUMAN	Homo sapiens spire homolog 2 (Drosophila) (SPIRE2), mRNA.	562					transport	cytoplasm|cytoskeleton	actin binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0286)		GAACAAGGAGCTCTTCAGCAG	0.622000														46			17		0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195515893	195515893	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:195515893C>T	uc021xjp.1	-	1	2714	c.2558G>A	c.(2557-2559)aGt>aAt	p.S853N	MUC4_uc003fvo.3_Intron|MUC4_uc003fvp.3_Intron|MUC4_uc021xjq.1_Missense_Mutation_p.S735N	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	858	Ser-rich.				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GGCACCATGACTGGCTGAGGC	0.567000														34			6		0	0	1	0	0
RASD2	23551	broad.mit.edu	37	22	35947819	35947819	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:35947819G>A	uc003anx.3	+	2	746	c.541G>A	c.(541-543)Gag>Aag	p.E181K	RASD2_uc003any.3_Missense_Mutation_p.E181K	NM_014310	NP_055125	Q96D21	RHES_HUMAN	Homo sapiens RASD family, member 2 (RASD2), mRNA.	181					locomotory behavior|positive regulation of protein kinase B signaling cascade|positive regulation of protein sumoylation|regulation of cAMP-mediated signaling	intracellular|plasma membrane	G-protein beta-subunit binding|GTP binding|GTPase activity			endometrium(2)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	13						CAACGTGGACGAGATGTTCTA	0.632000														12			15		0	0	1	0	0
SHANK3	85358	broad.mit.edu	37	22	51160488	51160488	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:51160488G>T	uc003bne.1	+	21	4275	c.4275G>T	c.(4273-4275)aaG>aaT	p.K1425N	SHANK3_uc003bnf.1_Missense_Mutation_p.K872N	NM_001080420	NP_001073889	F2Z3L0	F2Z3L0_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 3 (SHANK3), mRNA.	1425										central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		TACTCGAGAAGCCACCAGTGC	0.622000														11			4		0.184627	0.186034	1	1	0
SSPO	23145	broad.mit.edu	37	7	149479958	149479958	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:149479958G>T	uc010lpk.3	+	14	1924	c.1924G>T	c.(1924-1926)Gat>Tat	p.D642Y	SSPO_uc010lpl.1_Intron	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	642	VWFD 2.				cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CAATGGGCAGGATGTGGGCTT	0.652000														27			6		8.12818e-05	8.84769e-05	1	1	0
CCNB3	85417	broad.mit.edu	37	X	50053092	50053092	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:50053092A>G	uc004dox.4	+	5	2221	c.1923A>G	c.(1921-1923)gcA>gcG	p.A641A	CCNB3_uc004doy.3_Silent_p.A641A|CCNB3_uc004doz.3_Intron|CCNB3_uc010njq.3_Intron	NM_033031	NP_149020	Q8WWL7	CCNB3_HUMAN	Homo sapiens cyclin B3 (CCNB3), transcript variant 3, mRNA.	641					cell division|meiosis|regulation of G2/M transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					AACCATCTGCATTGAAAGAGA	0.453000														24			5		0	0	1	0	0
FZD8	8325	broad.mit.edu	37	10	35929971	35929971	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:35929971C>T	uc001iyz.1	-	0	392	c.387G>A	c.(385-387)tgG>tgA	p.W129*		NM_031866	NP_114072	Q9H461	FZD8_HUMAN	Homo sapiens frizzled family receptor 8 (FZD8), mRNA.	129	FZ.				T cell differentiation in thymus|axonogenesis|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|vasculature development	Golgi apparatus|cell projection|integral to membrane|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	11						TGCGGTCGGGCCAGGCGAAGC	0.711000														7			8		0	0	1	0	0
MTX1	4580	broad.mit.edu	37	1	155178807	155178807	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155178807C>T	uc001fjb.3	+	0	318	c.212C>T	c.(211-213)gCg>gTg	p.A71V	THBS3_uc010pfu.2_5'Flank|THBS3_uc001fix.3_5'Flank|THBS3_uc009wqi.3_5'Flank|THBS3_uc001fiy.3_5'Flank|THBS3_uc010pfv.2_5'Flank|THBS3_uc001fja.2_Non-coding_Transcript|THBS3_uc009wqj.1_5'UTR|MTX1_uc001fjc.3_Missense_Mutation_p.A71V	NM_002455	NP_002446	Q13505	MTX1_HUMAN	Homo sapiens metaxin 1 (MTX1), transcript variant 1, mRNA.	71					protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane	protein binding			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	7	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GGGCCGACAGCGCTGTCCCGC	0.751000														5			5		0	0	1	0	0
HSF1	3297	broad.mit.edu	37	8	145535674	145535674	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:145535674C>T	uc003zbt.4	+	8	1056	c.886C>T	c.(886-888)Cgt>Tgt	p.R296C	HSF1_uc003zbu.4_Non-coding_Transcript	NM_005526	NP_005517	Q00613	HSF1_HUMAN	Homo sapiens heat shock transcription factor 1 (HSF1), mRNA.	296	Regulatory domain.					cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)|urinary_tract(2)	11	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055)			CCCCCTGGTGCGTGTCAAGGA	0.721000														2			6		0	0	1	0	0
ZMYM3	9203	broad.mit.edu	37	X	70469915	70469915	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:70469915G>A	uc004dzh.2	-	5	1391	c.1212C>T	c.(1210-1212)gcC>gcT	p.A404A	BCYRN1_uc011mpt.1_Intron|ZMYM3_uc004dzi.2_Silent_p.A404A|ZMYM3_uc004dzj.2_Silent_p.A404A|ZMYM3_uc011mpu.2_Silent_p.A135A|ZMYM3_uc004dzl.4_Silent_p.A404A	NM_201599	NP_963893	Q14202	ZMYM3_HUMAN	Homo sapiens zinc finger, MYM-type 3 (ZMYM3), transcript variant 1, mRNA.	404					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					GAGTAGCGTCGGCGGGATCCC	0.622000														10			3		0	0	1	0	0
KRT71	112802	broad.mit.edu	37	12	52943138	52943138	+	Splice_Site	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:52943138C>A	uc001sao.3	-	3	727	c.657_splice	c.e3-1	p.R219_splice		NM_033448	NP_258259	Q3SY84	K2C71_HUMAN	Homo sapiens keratin 71 (KRT71), mRNA.	219	Coil 1B.|Rod.						structural molecule activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.194)		CTCCTCATACCTGTGGGAATG	0.552000														110			16		1.99824e-07	2.30332e-07	1	1	0
ITGB4	3691	broad.mit.edu	37	17	73746348	73746348	+	Splice_Site	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:73746348G>T	uc002jpg.3	+	28	3661	c.3474_splice	c.e28+1	p.R1158_splice	ITGB4_uc002jph.3_Splice_Site_p.R1158_splice|ITGB4_uc002jpi.4_Splice_Site_p.R1158_splice|ITGB4_uc002jpj.3_Splice_Site_p.R1158_splice	NM_000213	NP_000204	P16144	ITB4_HUMAN	Homo sapiens integrin, beta 4 (ITGB4), transcript variant 1, mRNA.	1158	Fibronectin type-III 1.				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			ATGGGGTACAGGGTAAGGCGG	0.657000											OREG0024739	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		15			4		0.00909568	0.00940365	1	1	0
MOCOS	55034	broad.mit.edu	37	18	33795492	33795492	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:33795492G>A	uc002kzq.4	+	7	1372	c.1349G>A	c.(1348-1350)tGt>tAt	p.C450Y		NM_017947	NP_060417	Q96EN8	MOCOS_HUMAN	Homo sapiens molybdenum cofactor sulfurase (MOCOS), mRNA.	450					Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	Mo-molybdopterin cofactor sulfurase activity|lyase activity|molybdenum ion binding|pyridoxal phosphate binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43					Pyridoxal Phosphate(DB00114)	GGTCATGTCTGTGGGGACAAT	0.468000														19			9		0	0	1	0	0
ELMOD1	55531	broad.mit.edu	37	11	107518236	107518236	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:107518236A>G	uc010rvs.2	+	6	867	c.463A>G	c.(463-465)Att>Gtt	p.I155V	ELMOD1_uc001pjm.3_Missense_Mutation_p.I155V|ELMOD1_uc010rvt.2_Missense_Mutation_p.I149V	NM_018712	NP_061182	Q8N336	ELMD1_HUMAN	Homo sapiens ELMO/CED-12 domain containing 1 (ELMOD1), transcript variant 1, mRNA.	155	ELMO.				phagocytosis	cytoskeleton	GTPase activator activity			endometrium(2)|large_intestine(5)|liver(2)|lung(7)|pancreas(2)|prostate(1)	19		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00304)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Epithelial(105;0.00027)|all cancers(92;0.00481)		GGAATCTCGGATTTCTAAGCA	0.388000														47			5		0	0	1	0	0
ANPEP	290	broad.mit.edu	37	15	90328653	90328653	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:90328653G>A	uc002bop.4	-	20	3123	c.2831C>T	c.(2830-2832)aCg>aTg	p.T944M		NM_001150	NP_001141	P15144	AMPN_HUMAN	Homo sapiens alanyl (membrane) aminopeptidase (ANPEP), mRNA.	944	Metalloprotease.				angiogenesis|cell differentiation|interspecies interaction between organisms	ER-Golgi intermediate compartment|cytosol|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)	GTTGGCTTTCGTCTTCTCCAG	0.547000														66			55		0	0	1	0	0
COL1A1	1277	broad.mit.edu	37	17	48270050	48270050	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:48270050G>T	uc002iqm.3	-	27	2006	c.1880C>A	c.(1879-1881)cCc>cAc	p.P627H		NM_000088	NP_000079	P02452	CO1A1_HUMAN	Homo sapiens collagen, type I, alpha 1 (COL1A1), mRNA.	627	Triple-helical region.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	CTCGCCAGCGGGACCCTGCAC	0.627000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta							78			35		3.33393e-15	4.19542e-15	1	1	0
CRB1	23418	broad.mit.edu	37	1	197404300	197404300	+	Missense_Mutation	SNP	G	A	A	rs62636275		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:197404300G>A	uc001gtz.3	+	8	3516	c.3307G>A	c.(3307-3309)Gga>Aga	p.G1103R	CRB1_uc010poz.2_Missense_Mutation_p.G1079R|CRB1_uc009wza.3_Missense_Mutation_p.G991R|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Intron|CRB1_uc010ppd.2_Missense_Mutation_p.G584R|CRB1_uc001gub.1_Missense_Mutation_p.G752R	NM_201253	NP_957705	P82279	CRUM1_HUMAN	Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA.	1103	Laminin G-like 3.		G -> R (in LCA8 and RP12).		cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	p.G1103R(2)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						AATAGAAATCGGAGGCATTTA	0.368000														51			35		0	0	1	0	0
AKAP11	11215	broad.mit.edu	37	13	42869861	42869861	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:42869861G>T	uc001uys.2	+	4	374	c.199G>T	c.(199-201)Gat>Tat	p.D67Y		NM_016248	NP_057332	Q9UKA4	AKA11_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 11 (AKAP11), mRNA.	67					intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding	p.D67Y(2)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		TGAAGAGACAGATGCTGCTCA	0.348000														77			6		0.000157383	0.000170012	1	1	0
MST1R	4486	broad.mit.edu	37	3	49940860	49940860	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49940860G>A	uc003cxy.4	-	0	447	c.183C>T	c.(181-183)taC>taT	p.Y61Y	MST1R_uc011bdc.2_Silent_p.Y61Y|MST1R_uc011bdd.2_Silent_p.Y61Y|MST1R_uc011bde.1_Silent_p.Y61Y|MST1R_uc011bdf.1_Silent_p.Y61Y|MST1R_uc011bdg.2_Silent_p.Y61Y	NM_002447	NP_002438	Q04912	RON_HUMAN	Homo sapiens macrophage stimulating 1 receptor (c-met-related tyrosine kinase) (MST1R), transcript variant 1, mRNA.	61	Sema.				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		TGTCGCCCTCGTAGGTCACCA	0.627000														70			11		0	0	1	0	0
PHF2	5253	broad.mit.edu	37	9	96339133	96339133	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:96339133C>T	uc004aub.3	+	0	225	c.78C>T	c.(76-78)tgC>tgT	p.C26C	PHF2_uc011lug.1_Intron	NM_005392	NP_005383	O75151	PHF2_HUMAN	Homo sapiens PHD finger protein 2 (PHF2), mRNA.	26				FMIECDACKDWFHGSCVGVEEEE -> PRAARPPARPGPTR AAQRRGRAT (in Ref. 2; BAA31637).	liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		GCGACGCCTGCAAGGACTGGT	0.756000														8			3		0	0	1	0	0
PRDM11	56981	broad.mit.edu	37	11	45203856	45203856	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:45203856G>A	uc001myo.3	+	3	530	c.281G>A	c.(280-282)cGc>cAc	p.R94H		NM_020229	NP_064614	Q9NQV5	PRD11_HUMAN	Homo sapiens PR domain containing 11 (PRDM11), mRNA.	94										endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						AAGGGGAAGCGCGACCTCATC	0.587000														27			15		0	0	1	0	0
ATR	545	broad.mit.edu	37	3	142281097	142281097	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:142281097G>A	uc003eux.4	-	3	1269	c.1147C>T	c.(1147-1149)Ctt>Ttt	p.L383F		NM_001184	NP_001175	Q13535	ATR_HUMAN	Homo sapiens ataxia telangiectasia and Rad3 related (ATR), mRNA.	383					DNA damage checkpoint|DNA repair|DNA replication|cell cycle|cellular response to UV|cellular response to gamma radiation|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						TCAATTCCAAGCACATCCAAA	0.333000								Other conserved DNA damage response genes						29			18		0	0	1	0	0
NFASC	23114	broad.mit.edu	37	1	204943842	204943842	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:204943842C>T	uc010prc.2	+	12	1679	c.150C>T	c.(148-150)aaC>aaT	p.N50N	NFASC_uc001hbh.3_Silent_p.N483N|NFASC_uc010pqz.2_Silent_p.N477N|NFASC_uc001hbj.3_Silent_p.N483N|NFASC_uc010pra.2_Silent_p.N494N|NFASC_uc001hbi.3_Silent_p.N494N|NFASC_uc010prb.2_Silent_p.N494N|NFASC_uc001hbk.1_Silent_p.N304N			O94856	NFASC_HUMAN	Homo sapiens neurofascin (NFASC), transcript variant 2, mRNA.	483	Ig-like C2-type 1.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			TTTATGAGAACGGCAGTCTGG	0.512000														74			51		0	0	1	0	0
MYO1E	4643	broad.mit.edu	37	15	59487690	59487690	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:59487690G>A	uc002aga.3	-	16	2147	c.1775C>T	c.(1774-1776)aCc>aTc	p.T592I		NM_004998	NP_004989	Q12965	MYO1E_HUMAN	Homo sapiens myosin IE (MYO1E), mRNA.	592	Myosin head-like.				actin filament-based movement	myosin complex	ATP binding|ATPase activity, coupled|actin binding|calmodulin binding|microfilament motor activity	p.E591K(1)		breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1)	33				all cancers(107;0.207)		GGGCTTCTTGGTTTCGTTTGG	0.522000														64			44		0	0	1	0	0
BAIAP2L1	55971	broad.mit.edu	37	7	97944811	97944811	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:97944811G>A	uc003upj.3	-	6	863	c.600C>T	c.(598-600)caC>caT	p.H200H		NM_018842	NP_061330	Q9UHR4	BI2L1_HUMAN	Homo sapiens BAI1-associated protein 2-like 1 (BAIAP2L1), mRNA.	200	IMD.				filopodium assembly|positive regulation of actin cytoskeleton reorganization|positive regulation of actin filament polymerization|response to bacterium|signal transduction	cell junction|cytoskeleton|cytosol|nucleus	SH3 domain binding|actin binding|cytoskeletal adaptor activity|proline-rich region binding			NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)	23	all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126)		STAD - Stomach adenocarcinoma(171;0.215)			CAAAGCCACAGTGCTTATCAA	0.408000														195			18		0	0	1	0	0
NCOA5	57727	broad.mit.edu	37	20	44691373	44691373	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:44691373G>T	uc002xrd.3	-	6	1834	c.1306C>A	c.(1306-1308)Ctc>Atc	p.L436I	NCOA5_uc002xrc.3_3'UTR|NCOA5_uc002xre.3_Missense_Mutation_p.L436I	NM_020967	NP_066018	Q9HCD5	NCOA5_HUMAN	Homo sapiens nuclear receptor coactivator 5 (NCOA5), mRNA.	436					regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation	nucleus	ATP binding|aminoacyl-tRNA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				AAGAGGCTGAGGATTTTGGCC	0.592000														132			16		6.72482e-11	8.1643e-11	1	1	0
FKBP4	2288	broad.mit.edu	37	12	2910319	2910319	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:2910319T>C	uc001qkz.3	+	8	1267	c.1069T>C	c.(1069-1071)Ttc>Ctc	p.F357L		NM_002014	NP_002005	Q02790	FKBP4_HUMAN	Homo sapiens FK506 binding protein 4, 59kDa (FKBP4), mRNA.	357	Interaction with tubulin (By similarity).				negative regulation of microtubule polymerization or depolymerization|negative regulation of neuron projection development|protein folding	axonal growth cone|cytosol|membrane|microtubule|nucleus	FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity|protein binding, bridging			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(1)	14			OV - Ovarian serous cystadenocarcinoma(31;0.00105)		Dimethyl sulfoxide(DB01093)	GAAGGGCCTCTTCCGCCGGGG	0.567000														64			8		0	0	1	0	0
ZNF660	285349	broad.mit.edu	37	3	44636358	44636358	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:44636358A>G	uc003cnl.1	+	2	1006	c.673A>G	c.(673-675)Aaa>Gaa	p.K225E	ZNF660_uc021wwp.1_Missense_Mutation_p.K225E	NM_173658	NP_775929	Q6AZW8	ZN660_HUMAN	Homo sapiens zinc finger protein 660 (ZNF660), mRNA.	225					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(2)|lung(4)	6				KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585)		TGAGTGTGGAAAAACTTTCAT	0.373000														93			7		0	0	1	0	0
TDRKH	11022	broad.mit.edu	37	1	151752494	151752494	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:151752494G>A	uc009wnb.1	-	3	536	c.354C>T	c.(352-354)atC>atT	p.I118I	TDRKH_uc001eyy.2_Intron|TDRKH_uc001ezb.4_Silent_p.I114I|TDRKH_uc001ezc.4_Intron|TDRKH_uc001eza.4_Silent_p.I118I|TDRKH_uc001ezd.4_Silent_p.I118I|TDRKH_uc010pdn.1_Intron	NM_006862	NP_006853	Q9Y2W6	TDRKH_HUMAN	Homo sapiens tudor and KH domain containing (TDRKH), transcript variant 3, mRNA.	118							RNA binding			breast(5)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			TCTCTGTCAGGATCTGATGGA	0.498000														63			54		0	0	1	0	0
ALMS1	7840	broad.mit.edu	37	2	73717414	73717414	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:73717414G>A	uc002sje.1	+	9	8436	c.8325G>A	c.(8323-8325)atG>atA	p.M2775I	ALMS1_uc002sjf.1_Missense_Mutation_p.M2733I|ALMS1_uc002sjg.3_Missense_Mutation_p.M2163I|ALMS1_uc002sjh.1_Missense_Mutation_p.M2163I	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Homo sapiens Alstrom syndrome 1 (ALMS1), mRNA.	2775					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						CATTTAAAATGCATAGTAATT	0.358000														61			18		0	0	1	0	0
CD4	920	broad.mit.edu	37	12	6909495	6909495	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:6909495G>T	uc001qqv.2	+	2	330	c.72G>T	c.(70-72)caG>caT	p.Q24H	CD4_uc009zfa.2_Intron|CD4_uc009zez.2_Intron|CD4_uc009zfb.2_Intron|CD4_uc010sfj.2_Intron|CD4_uc009zfc.2_Intron|CD4_uc010sfl.2_Intron|CD4_uc010sfk.2_Intron	NM_000616	NP_000607	P01730	CD4_HUMAN	Homo sapiens CD4 molecule (CD4), transcript variant 1, mRNA.	24					T cell costimulation|T cell receptor signaling pathway|T cell selection|cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|transmembrane receptor protein tyrosine kinase signaling pathway	T cell receptor complex|early endosome|endoplasmic reticulum membrane|integral to membrane	MHC class II protein binding|coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)				CAGCCACTCAGGGAAAGAAAG	0.522000														25			17		3.57192e-18	4.57256e-18	1	1	0
MYO7B	4648	broad.mit.edu	37	2	128381746	128381746	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:128381746G>A	uc002top.3	+	28	3873	c.3820G>A	c.(3820-3822)Gag>Aag	p.E1274K	MYO7B_uc002toq.1_Missense_Mutation_p.E127K|MYO7B_uc002tor.1_Missense_Mutation_p.E127K	NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN	Homo sapiens myosin VIIB (MYO7B), mRNA.	1274	FERM 1.					apical plasma membrane|myosin complex	ATP binding|actin binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		GGAGAGGGGCGAGAGCCAGCG	0.642000														1			4		0	0	1	0	0
KLK4	9622	broad.mit.edu	37	19	51411961	51411961	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:51411961G>T	uc002pua.1	-	2	349	c.349C>A	c.(349-351)Ctc>Atc	p.L117I	KLK4_uc002pty.1_Missense_Mutation_p.L68I|KLK4_uc002ptz.1_Non-coding_Transcript|KLK4_uc002pub.1_Missense_Mutation_p.L22I|KLK4_uc002puc.1_Non-coding_Transcript|KLK4_uc010eoi.1_Missense_Mutation_p.L22I|KLK4_uc002pud.1_Missense_Mutation_p.L22I	NM_004917	NP_004908	Q9Y5K2	KLK4_HUMAN	Homo sapiens kallikrein-related peptidase 4 (KLK4), mRNA.	117	Peptidase S1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(8)	19		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00624)|GBM - Glioblastoma multiforme(134;0.00878)		ATGAGCATGAGGTCGTTAGCG	0.597000														61			8		5.18039e-06	5.80246e-06	1	1	0
TMPRSS6	164656	broad.mit.edu	37	22	37462235	37462235	+	Missense_Mutation	SNP	C	T	T	rs34971651		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:37462235C>T	uc003aqt.1	-	18	2422	c.2360G>A	c.(2359-2361)cGc>cAc	p.R787H	TMPRSS6_uc003aqs.1_Missense_Mutation_p.R774H	NM_153609	NP_705837	Q8IU80	TMPS6_HUMAN	Homo sapiens transmembrane protease, serine 6 (TMPRSS6), mRNA.	774	Peptidase S1.				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						CAGGAACCAGCGGCCACTGAG	0.627000														14			6		0	0	1	0	0
GPR151	134391	broad.mit.edu	37	5	145894747	145894747	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:145894747C>T	uc003lod.1	-	0	930	c.930G>A	c.(928-930)tcG>tcA	p.S310S		NM_194251	NP_919227	Q8TDV0	GP151_HUMAN	Homo sapiens G protein-coupled receptor 151 (GPR151), mRNA.	310						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(2)	14			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGAACTCTTCCGACATCACAA	0.478000														16			10		0	0	1	0	0
MRPL40	64976	broad.mit.edu	37	22	19423208	19423208	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:19423208C>T	uc002zpg.3	+	3	386	c.344C>T	c.(343-345)gCt>gTt	p.A115V	HIRA_uc010gro.2_Intron|HIRA_uc010grp.3_Intron	NM_003776	NP_003767	Q9NQ50	RM40_HUMAN	Homo sapiens mitochondrial ribosomal protein L40 (MRPL40), nuclear gene encoding mitochondrial protein, mRNA.	115					anatomical structure morphogenesis	mitochondrial ribosome|nucleus				endometrium(1)|upper_aerodigestive_tract(1)	2	Colorectal(54;0.0993)					GAGAGGAGAGCTCTGCTTCTG	0.532000														273			27		0	0	1	0	0
ZNF445	353274	broad.mit.edu	37	3	44488739	44488739	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:44488739A>G	uc003cnf.2	-	7	2772	c.2424T>C	c.(2422-2424)caT>caC	p.H808H	ZNF445_uc011azv.1_Silent_p.H796H|ZNF445_uc011azw.1_Silent_p.H808H	NM_181489	NP_852466	P59923	ZN445_HUMAN	Homo sapiens zinc finger protein 445 (ZNF445), mRNA.	808					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R807Q(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		GAATCCTCTGATGTCGGTAGA	0.443000														74			9		0	0	1	0	0
AMZ2	51321	broad.mit.edu	37	17	66247070	66247070	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:66247070G>T	uc002jgt.1	+	3	564	c.419G>T	c.(418-420)aGa>aTa	p.R140I	AMZ2_uc002jgs.1_Missense_Mutation_p.R140I|AMZ2_uc002jgr.1_Missense_Mutation_p.R140I|AMZ2_uc002jgu.1_Missense_Mutation_p.R140I|AMZ2_uc002jgv.1_Missense_Mutation_p.R140I|AMZ2_uc002jgw.1_Intron|AMZ2_uc002jgy.1_Missense_Mutation_p.R140I	NM_001033570	NP_057711	Q86W34	AMZ2_HUMAN	Homo sapiens archaelysin family metallopeptidase 2 (AMZ2), transcript variant 3, mRNA.	140							metallopeptidase activity|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	9	all_cancers(12;1.12e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)			TGTTCCTTTAGAGTCAATGAG	0.353000														38			17		1.33834e-09	1.59673e-09	1	1	0
FLT3	2322	broad.mit.edu	37	13	28592603	28592603	+	Splice_Site	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:28592603C>T	uc001urw.3	-	20	2623	c.2541_splice	c.e20+1	p.N847_splice	FLT3_uc010aao.3_Splice_Site|FLT3_uc010tdn.2_Intron	NM_004119	NP_004110	P36888	FLT3_HUMAN	Homo sapiens fms-related tyrosine kinase 3 (FLT3), mRNA.	847	Protein kinase.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	AGCAGCCTCACATTGCCCCTG	0.423000			"""Mis, O"""		"""AML, ALL"""									35			14		0	0	1	0	0
SPARCL1	8404	broad.mit.edu	37	4	88412805	88412805	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:88412805G>A	uc010ikm.3	-	5	1828	c.1256C>T	c.(1255-1257)aCg>aTg	p.T419M	SPARCL1_uc011cdc.2_Missense_Mutation_p.T294M|SPARCL1_uc003hqs.4_Missense_Mutation_p.T419M|SPARCL1_uc011cdd.2_Missense_Mutation_p.T294M	NM_001128310	NP_004675	Q14515	SPRL1_HUMAN	Homo sapiens SPARC-like 1 (hevin) (SPARCL1), transcript variant 1, mRNA.	419			T -> A (in dbSNP:rs1130643).		signal transduction	extracellular space|proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2)	21				OV - Ovarian serous cystadenocarcinoma(123;0.00118)		TTCACTTGACGTTTCCTCCTC	0.398000														45			27		0	0	1	0	0
PTPN21	11099	broad.mit.edu	37	14	88967684	88967684	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:88967684G>A	uc001xwv.4	-	6	947	c.616C>T	c.(616-618)Ctg>Ttg	p.L206L	PTPN21_uc010twc.2_Silent_p.L2L|PTPN21_uc010atf.1_Silent_p.L206L	NM_007039	NP_008970	Q16825	PTN21_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 21 (PTPN21), mRNA.	206	FERM.					cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						TGCATGTACAGCATTTCAGCA	0.443000														107			8		0	0	1	0	0
FKBP14	55033	broad.mit.edu	37	7	30058726	30058726	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:30058726T>C	uc003tal.1	-	2	507	c.363A>G	c.(361-363)ccA>ccG	p.P121P	FKBP14_uc010kvq.1_Non-coding_Transcript	NM_017946	NP_060416	Q9NWM8	FKB14_HUMAN	Homo sapiens FK506 binding protein 14, 22 kDa (FKBP14), mRNA.	121	PPIase FKBP-type.				protein folding	endoplasmic reticulum lumen|membrane	FK506 binding|calcium ion binding|peptidyl-prolyl cis-trans isomerase activity	p.P120T(1)		breast(1)|large_intestine(2)|lung(2)	5						GTGTACTTTCTGGGGGAATTT	0.333000														115			8		0	0	1	0	0
ADCK5	203054	broad.mit.edu	37	8	145617300	145617300	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:145617300C>T	uc003zch.3	+	10	1159	c.1105C>T	c.(1105-1107)Cgg>Tgg	p.R369W	ADCK5_uc003zci.3_5'UTR	NM_174922	NP_777582	Q3MIX3	ADCK5_HUMAN	Homo sapiens aarF domain containing kinase 5 (ADCK5), mRNA.	369	Protein kinase.					integral to membrane	protein serine/threonine kinase activity			endometrium(1)|lung(2)|prostate(2)|skin(1)|stomach(2)	8	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;8.96e-41)|Epithelial(56;4.08e-40)|all cancers(56;4.51e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			AGTTCTGGTGCGGAAAGGCCC	0.662000														12			7		0	0	1	0	0
NID1	4811	broad.mit.edu	37	1	236143157	236143157	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:236143157G>A	uc001hxo.3	-	17	3576	c.3474C>T	c.(3472-3474)agC>agT	p.S1158S	NID1_uc009xgd.3_Silent_p.S1025S|NID1_uc009xgc.3_Silent_p.S239S	NM_002508	NP_002499	P14543	NID1_HUMAN	Homo sapiens nidogen 1 (NID1), mRNA.	1158					cell-matrix adhesion	basement membrane	calcium ion binding			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	TCTTCCCGTAGCTCGTCACAG	0.597000														46			22		0	0	1	0	0
CTNND2	1501	broad.mit.edu	37	5	11236855	11236855	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:11236855G>A	uc003jfa.1	-	9	1854	c.1709C>T	c.(1708-1710)gCg>gTg	p.A570V	CTNND2_uc010itt.2_Missense_Mutation_p.A479V|CTNND2_uc011cmy.1_Missense_Mutation_p.A233V|CTNND2_uc011cmz.1_Missense_Mutation_p.A137V|CTNND2_uc010itu.1_Non-coding_Transcript|CTNND2_uc011cmx.1_Missense_Mutation_p.A137V	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	Homo sapiens catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) (CTNND2), mRNA.	570					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GTAGGCTGCCGCGTTAGACTG	0.473000														80			43		0	0	1	0	0
CNTRL	11064	broad.mit.edu	37	9	123935588	123935588	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:123935588C>A	uc004bkx.1	+	38	6516	c.6485C>A	c.(6484-6486)tCt>tAt	p.S2162Y	CNTRL_uc004blb.1_Missense_Mutation_p.S831Y|CNTRL_uc010mvp.1_Missense_Mutation_p.S112Y	NM_007018	NP_008949	Q7Z7A1	CNTRL_HUMAN	Homo sapiens centriolin (CNTRL), mRNA.	2162	Sufficient for interaction with HOOK2.				G2/M transition of mitotic cell cycle|cell division	centrosome|cytosol	protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						ACACTTAAATCTGAGGTGAAG	0.368000														54			5		1	1	1	1	0
FOXD4	2298	broad.mit.edu	37	9	117021	117021	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:117021G>A	uc003zfz.3	-	0	1397	c.1099C>T	c.(1099-1101)Cgg>Tgg	p.R367W		NM_207305	NP_997188	Q12950	FOXD4_HUMAN	Homo sapiens forkhead box D4 (FOXD4), mRNA.	367					axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA 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			endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		TCCTGATGCCGCTGCTGTTGC	0.687000														141			32		0	0	1	0	0
IGSF21	84966	broad.mit.edu	37	1	18692015	18692015	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:18692015G>A	uc001bau.2	+	5	1222	c.839G>A	c.(838-840)aGc>aAc	p.S280N	IGSF21_uc001bav.2_Missense_Mutation_p.S101N	NM_032880	NP_116269	Q96ID5	IGS21_HUMAN	Homo sapiens immunoglobin superfamily, member 21 (IGSF21), mRNA.	280						extracellular region		p.S280C(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)		TGGGTCCACAGCGCCGAGCCC	0.637000														60			36		0	0	1	0	0
ZNF677	342926	broad.mit.edu	37	19	53740687	53740687	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:53740687G>A	uc002qbg.1	-	4	1444	c.1293C>T	c.(1291-1293)caC>caT	p.H431H	ZNF677_uc002qbf.1_Silent_p.H431H	NM_182609	NP_872415	Q86XU0	ZN677_HUMAN	Homo sapiens zinc finger protein 677 (ZNF677), mRNA.	431					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(134;0.00352)		CATTACATTTGTGTGGTTTCT	0.398000														35			17		0	0	1	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121653746	121653746	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:121653746G>A	uc003vjy.3	+	11	5041	c.4646G>A	c.(4645-4647)aGt>aAt	p.S1549N	PTPRZ1_uc011knt.2_Intron|PTPRZ1_uc003vjz.3_Intron	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor-type, Z polypeptide 1 (PTPRZ1), transcript variant 1, mRNA.	1549					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	p.G1549E(2)		NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						GATGAAGAAAGTGGATCAGGG	0.433000														69			30		0	0	1	0	0
MTL5	9633	broad.mit.edu	37	11	68514826	68514826	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:68514826G>T	uc001ooc.3	-	2	620	c.480C>A	c.(478-480)atC>atA	p.I160I	MTL5_uc001ood.1_Silent_p.I160I|MTL5_uc009ysi.1_Silent_p.I160I|MTL5_uc001ooe.3_Silent_p.I160I	NM_004923	NP_004914	Q9Y4I5	MTL5_HUMAN	Homo sapiens metallothionein-like 5, testis-specific (tesmin) (MTL5), transcript variant 1, mRNA.	160					cell differentiation|cellular metal ion homeostasis|multicellular organismal development|response to metal ion|spermatogenesis	cytoplasm|nucleus|soluble fraction	metal ion binding			breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	15	Esophageal squamous(3;4.37e-12)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)			CTGCTTCCTTGATTTCAACCT	0.393000														57			6		3.59834e-05	3.95114e-05	1	1	0
CDK2	1017	broad.mit.edu	37	12	56361852	56361852	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56361852A>G	uc001sit.4	+	2	451	c.214A>G	c.(214-216)Aca>Gca	p.T72A	CDK2_uc001siu.4_Missense_Mutation_p.T72A|CDK2_uc010spy.2_Missense_Mutation_p.T46A	NM_001798	NP_001789	P24941	CDK2_HUMAN	Homo sapiens cyclin-dependent kinase 2 (CDK2), transcript variant 1, mRNA.	72	Protein kinase.				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA replication|G1/S transition of mitotic cell cycle|G2 phase of mitotic cell cycle|G2/M transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|Ras protein signal transduction|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|blood coagulation|cell division|histone phosphorylation|mitosis|positive regulation of cell proliferation|regulation of DNA replication|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|traversing start control point of mitotic cell cycle	cyclin-dependent protein kinase holoenzyme complex|cytosol	ATP binding|cyclin-dependent protein kinase activity|identical protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	18			UCEC - Uterine corpus endometrioid carcinoma (6;0.123)|OV - Ovarian serous cystadenocarcinoma(18;0.235)			TGTCATTCACACAGAAAATAA	0.438000														104			6		0	0	1	0	0
GHRHR	2692	broad.mit.edu	37	7	31009572	31009572	+	Missense_Mutation	SNP	C	T	T	rs138751215		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:31009572C>T	uc003tbx.3	+	3	407	c.359C>T	c.(358-360)gCt>gTt	p.A120V	GHRHR_uc003tby.3_Missense_Mutation_p.A56V|GHRHR_uc003tbz.3_5'UTR	NM_000823	NP_000814	Q02643	GHRHR_HUMAN	Homo sapiens growth hormone releasing hormone receptor (GHRHR), mRNA.	120					activation of adenylate cyclase activity by G-protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to estrogen stimulus|response to glucocorticoid stimulus	cell surface|integral to membrane|nuclear inner membrane|nuclear matrix|nuclear outer membrane|plasma membrane|stored secretory granule	growth factor binding|growth hormone-releasing hormone receptor activity|peptide hormone binding			biliary_tract(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35					Sermorelin(DB00010)	GAGCTGCTGGCTGAGGAGGTA	0.577000														99			8		0	0	1	0	0
RASSF3	283349	broad.mit.edu	37	12	65085294	65085294	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:65085294C>T	uc001ssd.3	+	3	622	c.502C>T	c.(502-504)Cgt>Tgt	p.R168C	RASSF3_uc009zqn.3_Non-coding_Transcript|RASSF3_uc001sse.3_Missense_Mutation_p.R98C	NM_178169	NP_835463	Q86WH2	RASF3_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) domain family member 3 (RASSF3), transcript variant 1, mRNA.	168	Ras-associating.				signal transduction	cytoplasm|microtubule	identical protein binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10			Lung(2;0.00133)|LUAD - Lung adenocarcinoma(6;0.0665)|LUSC - Lung squamous cell carcinoma(43;0.132)	GBM - Glioblastoma multiforme(28;0.0611)		ACTCTACCTGCGTTTGGTAGC	0.443000														24			13		0	0	1	0	0
ZFP106	64397	broad.mit.edu	37	15	42740426	42740426	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:42740426G>T	uc001zpw.3	-	2	3237	c.2910C>A	c.(2908-2910)tcC>tcA	p.S970S	ZFP106_uc001zpu.3_Silent_p.S155S|ZFP106_uc001zpv.3_Silent_p.S155S|ZFP106_uc001zpx.3_Silent_p.S198S|ZFP106_uc010udh.1_Silent_p.S753S	NM_022473	NP_071918	Q9H2Y7	ZF106_HUMAN	Homo sapiens zinc finger protein 106 homolog (mouse) (ZFP106), mRNA.	970						nucleolus	zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	61		all_cancers(109;1.63e-12)|all_epithelial(112;3.97e-11)|Lung NSC(122;2.04e-07)|all_lung(180;8.31e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.6e-07)		TACTCTCCTGGGAATTCTGAT	0.473000														139			11		0.0809354	0.0822074	1	1	0
NDC80	10403	broad.mit.edu	37	18	2578944	2578944	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:2578944C>T	uc002kli.3	+	5	677	c.495C>T	c.(493-495)tcC>tcT	p.S165S		NM_006101	NP_006092	O14777	NDC80_HUMAN	Homo sapiens NDC80 kinetochore complex component homolog (S. cerevisiae) (NDC80), mRNA.	165	Interaction with RB1.|Interaction with the N-terminus of CDCA1.|Nuclear localization.				attachment of spindle microtubules to kinetochore|cell division|establishment of mitotic spindle orientation|mitotic prometaphase|mitotic sister chromatid segregation|mitotic spindle organization|phosphatidylinositol-mediated signaling	Ndc80 complex|condensed nuclear chromosome outer kinetochore|cytosol	protein binding			NS(1)|biliary_tract(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)|urinary_tract(2)	22						TTGCACTATCCAAAAGCTCCA	0.348000														44			7		0	0	1	0	0
PRR19	284338	broad.mit.edu	37	19	42813973	42813973	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:42813973C>T	uc002oti.3	+	1	615	c.237C>T	c.(235-237)caC>caT	p.H79H	PRR19_uc002oth.1_Silent_p.H79H|PRR19_uc002otj.3_Silent_p.H79H	NM_199285	NP_954979	A6NJB7	PRR19_HUMAN	Homo sapiens proline rich 19 (PRR19), mRNA.	79										NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	10		Prostate(69;0.00682)				TCTTCAACCACGAGGTGAAAT	0.647000														103			47		0	0	1	0	0
AICDA	57379	broad.mit.edu	37	12	8757829	8757829	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:8757829C>T	uc001qur.2	-	2	488	c.409G>A	c.(409-411)Gcc>Acc	p.A137T	AICDA_uc001qup.1_Missense_Mutation_p.A132T|AICDA_uc001quq.1_Missense_Mutation_p.A132T|AICDA_uc009zgd.1_Intron	NM_020661	NP_065712	Q9GZX7	AICDA_HUMAN	Homo sapiens activation-induced cytidine deaminase (AICDA), mRNA.	137					B cell differentiation|DNA demethylation|mRNA processing|negative regulation of methylation-dependent chromatin silencing	cytoplasm	cytidine deaminase activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)	16	Lung SC(5;0.184)					GTCATGATGGCTATTTGCACC	0.627000														21			9		0	0	1	0	0
MYF5	4617	broad.mit.edu	37	12	81110945	81110945	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:81110945C>T	uc001szg.2	+	0	238	c.103C>T	c.(103-105)Cga>Tga	p.R35*		NM_005593	NP_005584	P13349	MYF5_HUMAN	Homo sapiens myogenic factor 5 (MYF5), mRNA.	35					muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity	p.P34Q(1)|p.P34P(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						GTTTGTGCCGCGAGTGGCTGC	0.622000														21			4		0	0	1	0	0
CYP27A1	1593	broad.mit.edu	37	2	219679440	219679440	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:219679440G>A	uc002viz.4	+	7	1870	c.1436G>A	c.(1435-1437)cGc>cAc	p.R479H		NM_000784	NP_000775	Q02318	CP27A_HUMAN	Homo sapiens cytochrome P450, family 27, subfamily A, polypeptide 1 (CYP27A1), nuclear gene encoding mitochondrial protein, mRNA.	479			R -> C (in CTX).		bile acid biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(3)|urinary_tract(1)	26		Renal(207;0.0474)		Epithelial(149;9.48e-07)|all cancers(144;0.000171)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00981)	Cholecalciferol(DB00169)	TGCCTGGGCCGCAGGATTGCA	0.652000														19			12		0	0	1	0	0
ZNF431	170959	broad.mit.edu	37	19	21366678	21366678	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:21366678C>A	uc010ecr.2	+	4	1722	c.1575C>A	c.(1573-1575)tcC>tcA	p.S525S	ZNF431_uc002npp.2_Silent_p.S524S|ZNF431_uc010ecq.2_Silent_p.S433S	NM_133473	NP_597730	Q8TF32	ZN431_HUMAN	Homo sapiens zinc finger protein 431 (ZNF431), mRNA.	524					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23						TTAACCAATCCTCAACTCTTA	0.328000														36			20		1.64113e-05	1.8176e-05	1	1	0
LNX1	84708	broad.mit.edu	37	4	54362284	54362284	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:54362284C>T	uc003hag.4	-	5	1512	c.1256G>A	c.(1255-1257)cGa>cAa	p.R419Q	PDGFRA_uc003haa.3_Intron|LNX1_uc003haf.4_Missense_Mutation_p.R323Q|LNX1_uc003hah.4_Intron	NM_001126328	NP_001119800	Q8TBB1	LNX1_HUMAN	Homo sapiens ligand of numb-protein X 1 (LNX1), transcript variant 1, mRNA.	419	PDZ 2.					cytoplasm	zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4)	32	all_neural(26;0.153)		GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)			CTGACCATGTCGATATGCCAC	0.507000														54			36		0	0	1	0	0
SP100	6672	broad.mit.edu	37	2	231282380	231282380	+	Splice_Site	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:231282380G>T	uc002vqt.3	+	2	248	c.107_splice	c.e2+1	p.R36_splice	SP100_uc002vqs.3_Splice_Site_p.R36_splice|SP100_uc002vqu.1_Splice_Site_p.R36_splice|SP100_uc010zmb.2_Splice_Site_p.R36_splice|SP100_uc002vqq.2_Splice_Site_p.R36_splice|SP100_uc010zmc.2_Intron|SP100_uc002vqv.2_Splice_Site	NM_003113	NP_003104	P23497	SP100_HUMAN	Homo sapiens SP100 nuclear antigen (SP100), transcript variant 2, mRNA.	36	HSR.				DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of DNA binding|negative regulation of cellular component movement|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	PML body|cytoplasm|nuclear periphery|nucleolus	DNA binding|chromo shadow domain binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|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)		gatttgcaaaggtgatgaatg	0.378000														44			27		1.2476e-16	1.58296e-16	1	1	0
RGL2	5863	broad.mit.edu	37	6	33261844	33261844	+	Splice_Site	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:33261844C>A	uc003odv.3	-	12	1914	c.1354_splice	c.e12-1	p.N452_splice	RGL2_uc003odu.3_Splice_Site_p.N12_splice|RGL2_uc010jur.3_Splice_Site_p.N12_splice|RGL2_uc003odw.3_Splice_Site_p.N370_splice|RGL2_uc011drb.2_Intron	NM_004761	NP_001230667	O15211	RGL2_HUMAN	Homo sapiens ral guanine nucleotide dissociation stimulator-like 2 (RGL2), transcript variant 1, mRNA.	452	Ras-GEF.				Ras protein signal transduction|regulation of small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity			breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	34						TGTATCCATTCTGCGAGGAAA	0.517000														177			12		0.000978159	0.00103832	1	1	0
ZNF583	147949	broad.mit.edu	37	19	56935667	56935667	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:56935667T>C	uc010ygl.1	+	4	1805	c.1640T>C	c.(1639-1641)tTc>tCc	p.F547S	ZNF583_uc002qnc.2_Missense_Mutation_p.F547S|ZNF583_uc010ygm.1_Missense_Mutation_p.F547S	NM_001159860	NP_689691	Q96ND8	ZN583_HUMAN	Homo sapiens zinc finger protein 583 (ZNF583), transcript variant 2, mRNA.	547					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0564)		atggagtcattcttgactctt	0.428000														39			5		0	0	1	0	0
NGEF	25791	broad.mit.edu	37	2	233785012	233785012	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:233785012C>A	uc002vts.2	-	4	1058	c.810G>T	c.(808-810)gaG>gaT	p.E270D	NGEF_uc010fyg.1_Missense_Mutation_p.E178D|NGEF_uc002vtt.2_Missense_Mutation_p.E178D	NM_019850	NP_062824	Q8N5V2	NGEF_HUMAN	Homo sapiens neuronal guanine nucleotide exchange factor (NGEF), transcript variant 1, mRNA.	270	Regulatory region; modulates activity toward RHOA, RAC1 and CDC42 (By similarity).				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|growth cone|plasma membrane	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)		GCTTAATCTCCTCGGGCTGTA	0.652000														31			20		2.54575e-18	3.26134e-18	1	1	0
RASD2	23551	broad.mit.edu	37	22	35948047	35948047	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:35948047G>A	uc003anx.3	+	2	974	c.769G>A	c.(769-771)Gcc>Acc	p.A257T	RASD2_uc003any.3_Missense_Mutation_p.A257T	NM_014310	NP_055125	Q96D21	RHES_HUMAN	Homo sapiens RASD family, member 2 (RASD2), mRNA.	257					locomotory behavior|positive regulation of protein kinase B signaling cascade|positive regulation of protein sumoylation|regulation of cAMP-mediated signaling	intracellular|plasma membrane	G-protein beta-subunit binding|GTP binding|GTPase activity			endometrium(2)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	13						GGAAGGCCAGGCCCGTGAGAG	0.657000														40			21		0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1269149	1269149	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:1269149C>T	uc001lta.3	+	30	11098	c.11039C>T	c.(11038-11040)aCg>aTg	p.T3680M		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	3680	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ACCAGCTCTACGGCCACGCCC	0.607000														94			46		0	0	1	0	0
GATAD2B	57459	broad.mit.edu	37	1	153800488	153800488	+	Splice_Site	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:153800488C>T	uc001fdb.4	-	2	579	c.335_splice	c.e2+1	p.S112_splice		NM_020699	NP_065750	Q8WXI9	P66B_HUMAN	Homo sapiens GATA zinc finger domain containing 2B (GATAD2B), mRNA.	112						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	38	all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CTGAGCCATACCTCCGTCTAG	0.478000														47			38		0	0	1	0	0
CCKBR	887	broad.mit.edu	37	11	6281259	6281259	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6281259T>C	uc001mcp.3	+	0	356	c.101T>C	c.(100-102)gTg>gCg	p.V34A	CCKBR_uc001mcq.3_5'UTR|CCKBR_uc001mcr.3_Missense_Mutation_p.V34A|CCKBR_uc001mcs.3_Missense_Mutation_p.V34A	NM_176875	NP_795344	P32239	GASR_HUMAN	Homo sapiens cholecystokinin B receptor (CCKBR), mRNA.	34					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding	p.V34V(1)		NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	AGCAGCAGTGTGGGCAACCTC	0.682000														8			4		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179576705	179576705	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179576705T>C	uc021vsy.1	-	92	24345	c.24120A>G	c.(24118-24120)ggA>ggG	p.G8040G	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.G4701G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	8967							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)			CAGAAACTTCTCCCACGCTGT	0.343000														92			11		0	0	1	0	0
ATP11B	23200	broad.mit.edu	37	3	182585172	182585172	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:182585172T>C	uc003flb.3	+	14	1885	c.1628T>C	c.(1627-1629)aTt>aCt	p.I543T	ATP11B_uc003flc.3_Missense_Mutation_p.I127T	NM_014616	NP_055431	Q9Y2G3	AT11B_HUMAN	Homo sapiens ATPase, class VI, type 11B (ATP11B), mRNA.	543					ATP biosynthetic process|aminophospholipid transport	integral to membrane|nuclear inner membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			AGGATTGGTATTGTGTTTATT	0.289000														54			7		0	0	1	0	0
L1CAM	3897	broad.mit.edu	37	X	153138122	153138122	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153138122G>T	uc004fjb.3	-	2	230	c.122C>A	c.(121-123)tCt>tAt	p.S41Y	L1CAM_uc004fjc.3_Missense_Mutation_p.S41Y|L1CAM_uc010nuo.3_Missense_Mutation_p.S36Y|L1CAM_uc004fjd.1_5'Flank|L1CAM_uc022chz.1_Missense_Mutation_p.S36Y	NM_000425	NP_000416	P32004	L1CAM_HUMAN	Homo sapiens L1 cell adhesion molecule (L1CAM), transcript variant 1, mRNA.	41	Ig-like C2-type 1.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCGCCGTGGAGACTGTTCCGT	0.602000														43			20		6.33239e-15	7.95586e-15	1	1	0
CWF19L2	143884	broad.mit.edu	37	11	107299983	107299983	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:107299983T>C	uc010rvp.2	-	7	1005	c.975A>G	c.(973-975)aaA>aaG	p.K325K	CWF19L2_uc001pjh.4_Non-coding_Transcript|CWF19L2_uc009yxo.3_Non-coding_Transcript	NM_152434	NP_689647	Q2TBE0	C19L2_HUMAN	Homo sapiens CWF19-like 2, cell cycle control (S. pombe) (CWF19L2), mRNA.	325							catalytic activity			endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)		TATTGCTATTTTTTGCAGTAT	0.323000														60			6		0	0	1	0	0
FAM83G	644815	broad.mit.edu	37	17	18874841	18874841	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:18874841C>T	uc002guw.3	-	5	2470	c.2303G>A	c.(2302-2304)cGc>cAc	p.R768H	SLC5A10_uc002gur.1_Intron|SLC5A10_uc002guu.1_Intron|SLC5A10_uc002gut.1_Intron|SLC5A10_uc002guv.1_Intron|SLC5A10_uc010vyl.1_Intron	NM_001039999	NP_001035088	A6ND36	FA83G_HUMAN	Homo sapiens family with sequence similarity 83, member G (FAM83G), mRNA.	768										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						GGTCATGGGGCGGGCATTTTG	0.657000														130			12		0	0	1	0	0
ARID2	196528	broad.mit.edu	37	12	46245654	46245654	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:46245654G>A	uc001ros.1	+	14	3748	c.3748G>A	c.(3748-3750)Gca>Aca	p.A1250T	ARID2_uc001ror.3_Missense_Mutation_p.A1250T|ARID2_uc009zkg.1_Missense_Mutation_p.A706T|ARID2_uc009zkh.1_Missense_Mutation_p.A877T|ARID2_uc001rou.1_Missense_Mutation_p.A584T	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	Homo sapiens AT rich interactive domain 2 (ARID, RFX-like) (ARID2), mRNA.	1250					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		GGAGGAGGAAGCAAAGGAAGC	0.468000			"""N, S, F"""		hepatocellular carcinoma									25			14		0	0	1	0	0
TOR3A	64222	broad.mit.edu	37	1	179057219	179057219	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:179057219T>C	uc001gmd.3	+	3	965	c.813T>C	c.(811-813)ttT>ttC	p.F271F	TOR3A_uc010pnd.2_Silent_p.F55F	NM_022371	NP_071766	Q9H497	TOR3A_HUMAN	Homo sapiens torsin family 3, member A (TOR3A), mRNA.	271					chaperone mediated protein folding requiring cofactor	endoplasmic reticulum	ATP binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|urinary_tract(1)	13						TCTTTCTGTTTCTCAGGTGGG	0.597000														66			32		0	0	1	0	0
SCARB1	949	broad.mit.edu	37	12	125270966	125270966	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:125270966G>A	uc001ugp.3	-	10	1591	c.1338C>T	c.(1336-1338)taC>taT	p.Y446Y	SCARB1_uc001ugm.4_Silent_p.Y446Y|SCARB1_uc001ugn.4_Silent_p.Y446Y|SCARB1_uc010tbd.2_Intron|SCARB1_uc001ugo.4_Silent_p.Y446Y	NM_001082959	NP_001076428	Q8WTV0	SCRB1_HUMAN	Homo sapiens scavenger receptor class B, member 1 (SCARB1), transcript variant 2, mRNA.	446					adhesion to symbiont|cell adhesion|cholesterol efflux|cholesterol homeostasis|cholesterol import|detection of lipopolysaccharide|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|lipopolysaccharide transport|lipoprotein metabolic process|positive regulation of cholesterol storage|positive regulation of endothelial cell migration|positive regulation of nitric-oxide synthase activity|recognition of apoptotic cell|reverse cholesterol transport|triglyceride homeostasis|wound healing	caveola	1-phosphatidylinositol binding|apolipoprotein A-I binding|high-density lipoprotein particle receptor activity|lipopolysaccharide receptor activity|low-density lipoprotein particle binding|phosphatidylserine binding|transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|prostate(1)	17	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395)	Phosphatidylserine(DB00144)	CCAGGAGGACGTACTGGGCAT	0.612000														38			29		0	0	1	0	0
AMIGO1	57463	broad.mit.edu	37	1	110050173	110050173	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:110050173G>A	uc021org.1	-	0	1362	c.1362C>T	c.(1360-1362)aaC>aaT	p.N454N	AMIGO1_uc001dxx.4_Silent_p.N454N	NM_020703	NP_065754	Q86WK6	AMGO1_HUMAN	Homo sapiens adhesion molecule with Ig-like domain 1 (AMIGO1), mRNA.	454				N -> S (in Ref. 4; AAH40879).	axonal fasciculation|heterophilic cell-cell adhesion|homophilic cell adhesion|myelination|positive regulation of axonogenesis	axon|integral to membrane				autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Colorectal(144;0.0129)|Lung(183;0.0182)|Epithelial(280;0.046)|all cancers(265;0.0492)|READ - Rectum adenocarcinoma(129;0.0689)|LUSC - Lung squamous cell carcinoma(189;0.227)		TGAGCTTGCCGTTTTGACCCT	0.592000														67			27		0	0	1	0	0
ATP13A3	79572	broad.mit.edu	37	3	194162084	194162084	+	Missense_Mutation	SNP	A	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:194162084A>T	uc003fty.4	-	14	2068	c.1666T>A	c.(1666-1668)Tct>Act	p.S556T	ATP13A3_uc003ftz.1_Missense_Mutation_p.S262T	NM_024524	NP_078800	Q9H7F0	AT133_HUMAN	Homo sapiens ATPase type 13A3 (ATP13A3), mRNA.	556					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	p.L555L(1)		NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		GGATCACCAGAGAGCACTCCT	0.323000														67			8		0	0	1	0	0
RASD1	51655	broad.mit.edu	37	17	17399332	17399332	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:17399332G>T	uc002gri.3	-	0	378	c.164C>A	c.(163-165)cCt>cAt	p.P55H	RASD1_uc021trg.1_Missense_Mutation_p.P55H	NM_016084	NP_057168	Q9Y272	RASD1_HUMAN	Homo sapiens RAS, dexamethasone-induced 1 (RASD1), transcript variant 1, mRNA.	55					G-protein coupled receptor protein signaling pathway|small GTPase mediated signal transduction	nucleus|perinuclear region of cytoplasm|plasma membrane	GTP binding|GTPase activity			endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	4						CTCGATGGTAGGCGTGTAGGC	0.627000														32			24		7.4402e-23	9.67434e-23	1	1	0
UNC5B	219699	broad.mit.edu	37	10	73058900	73058900	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:73058900C>T	uc001jro.3	+	16	3155	c.2704C>T	c.(2704-2706)Ccc>Tcc	p.P902S	UNC5B_uc001jrp.3_Missense_Mutation_p.P891S	NM_170744	NP_734465	Q8IZJ1	UNC5B_HUMAN	Homo sapiens unc-5 homolog B (C. elegans) (UNC5B), transcript variant 1, mRNA.	902	Death.				apoptosis|axon guidance|regulation of apoptosis	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						CAAAGCGAGCCCCACGGGTGT	0.607000														168			7		0	0	1	0	0
PTTG1	9232	broad.mit.edu	37	5	159849771	159849771	+	Silent	SNP	G	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:159849771G>C	uc003lyk.3	+	1	252	c.147G>C	c.(145-147)acG>acC	p.T49T	PTTG1_uc003lyj.3_Silent_p.T49T	NM_004219	NP_004210	O95997	PTTG1_HUMAN	Homo sapiens pituitary tumor-transforming 1 (PTTG1), mRNA.	49					DNA repair|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|chromosome organization|chromosome segregation|mitosis|spermatogenesis|transcription from RNA polymerase II promoter	cytosol|nucleus	SH3 domain binding|cysteine-type endopeptidase inhibitor activity|sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(1)|lung(4)	6	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.00219)|Epithelial(171;0.00348)|all cancers(165;0.0104)		TTGGCAAAACGTTCGATGCCC	0.433000														51			44		0	0	1	0	0
HRC	3270	broad.mit.edu	37	19	49657374	49657374	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:49657374A>G	uc002pmv.3	-	0	1308	c.1121T>C	c.(1120-1122)gTa>gCa	p.V374A		NM_002152	NP_002143	P23327	SRCH_HUMAN	Homo sapiens histidine rich calcium binding protein (HRC), mRNA.	374					muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		TTCCTCATCTACAAGGCCATG	0.542000														57			25		0	0	1	0	0
DDX26B	203522	broad.mit.edu	37	X	134707898	134707898	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:134707898A>G	uc004eyw.4	+	11	1904	c.1541A>G	c.(1540-1542)gAt>gGt	p.D514G	DDX26B_uc004eyx.4_Missense_Mutation_p.D115G	NM_182540	NP_872346	Q5JSJ4	DX26B_HUMAN	Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B (DDX26B), mRNA.	514										large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					AATGCTTATGATATTCCCCGT	0.338000														41			32		0	0	1	0	0
RGS22	26166	broad.mit.edu	37	8	101018281	101018281	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:101018281C>A	uc003yjb.1	-	15	2613	c.2418G>T	c.(2416-2418)caG>caT	p.Q806H	RGS22_uc003yja.1_Missense_Mutation_p.Q625H|RGS22_uc003yjc.1_Missense_Mutation_p.Q794H|RGS22_uc011lgz.1_Non-coding_Transcript|RGS22_uc022azf.1_Missense_Mutation_p.Q195H	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	Homo sapiens regulator of G-protein signaling 22 (RGS22), mRNA.	806					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			TATGCAAAGCCTGTAGCTTTC	0.368000														51			5		0.014758	0.0151755	1	1	0
XKR3	150165	broad.mit.edu	37	22	17280789	17280789	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:17280789C>A	uc002zlv.3	-	2	559	c.461G>T	c.(460-462)cGg>cTg	p.R154L	XKR3_uc011agf.2_Missense_Mutation_p.R154L	NM_175878	NP_787074	Q5GH77	XKR3_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 3 (XKR3), mRNA.	154						integral to membrane|plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				GAAATTATCCCGGATTGAGAA	0.398000														165			24		4.87955e-14	6.09581e-14	1	1	0
MDGA2	161357	broad.mit.edu	37	14	47343308	47343308	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:47343308T>C	uc001wwj.4	-	12	2691	c.2533A>G	c.(2533-2535)Aga>Gga	p.R845G	MDGA2_uc001wwh.4_5'UTR|MDGA2_uc001wwi.4_Missense_Mutation_p.R547G|MDGA2_uc010ani.3_Missense_Mutation_p.R336G	NM_001113498	NP_878250	Q7Z553	MDGA2_HUMAN	Homo sapiens MAM domain containing glycosylphosphatidylinositol anchor 2 (MDGA2), transcript variant 1, mRNA.	776	MAM.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						TTTGTATTTCTTGTTGCTGTA	0.368000														82			5		0	0	1	0	0
IGF2BP2	10644	broad.mit.edu	37	3	185407364	185407364	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:185407364A>G	uc003fpo.3	-	5	535	c.456T>C	c.(454-456)atT>atC	p.I152I	IGF2BP2_uc010hyi.3_Silent_p.I95I|IGF2BP2_uc010hyj.3_Silent_p.I89I|IGF2BP2_uc010hyk.3_Silent_p.I16I|IGF2BP2_uc010hyl.3_Silent_p.I89I|IGF2BP2_uc003fpp.3_Silent_p.I152I|IGF2BP2_uc003fpq.3_Silent_p.I157I	NM_006548	NP_006539	Q9Y6M1	IF2B2_HUMAN	Homo sapiens insulin-like growth factor 2 mRNA binding protein 2 (IGF2BP2), transcript variant 1, mRNA.	152	RRM 2.				anatomical structure morphogenesis|negative regulation of translation	cytoskeletal part|cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	20	all_cancers(143;5.84e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			GGATGTAGGAAATCTTGAAGG	0.582000														36			34		0	0	1	0	0
NCCRP1	342897	broad.mit.edu	37	19	39691388	39691388	+	Missense_Mutation	SNP	C	T	T	rs113786921		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:39691388C>T	uc002okq.1	+	5	839	c.820C>T	c.(820-822)Cgg>Tgg	p.R274W		NM_001001414	NP_001001414	Q6ZVX7	NCRP1_HUMAN	Homo sapiens non-specific cytotoxic cell receptor protein 1 homolog (zebrafish) (NCCRP1), mRNA.	274					protein catabolic process			p.R274R(1)		kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	10						TGTGCAGCTCCGGGAGTGACT	0.607000														116			79		0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26272207	26272207	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:26272207G>A	uc003abz.1	+	23	4382	c.4132G>A	c.(4132-4134)Gca>Aca	p.A1378T	MYO18B_uc003aca.1_Missense_Mutation_p.A1259T|MYO18B_uc010guy.1_Missense_Mutation_p.A1260T|MYO18B_uc010guz.1_Missense_Mutation_p.A1259T|MYO18B_uc011aka.1_Missense_Mutation_p.A532T|MYO18B_uc011akb.1_Missense_Mutation_p.A891T	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	1378						nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						TGTGTTCCTCGCAGTCAAGGA	0.572000														13			9		0	0	1	0	0
FAM189B	10712	broad.mit.edu	37	1	155217722	155217722	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155217722G>T	uc001fjm.3	-	11	2464	c.1858C>A	c.(1858-1860)Cct>Act	p.P620T	FAM189B_uc009wql.3_Missense_Mutation_p.P422T|FAM189B_uc001fjn.3_Missense_Mutation_p.P524T|FAM189B_uc001fjo.3_Missense_Mutation_p.P602T|FAM189B_uc001fjp.3_Non-coding_Transcript	NM_006589	NP_006580	P81408	F189B_HUMAN	Homo sapiens family with sequence similarity 189, member B (FAM189B), transcript variant 1, mRNA.	620						integral to membrane	WW domain binding			breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23						TCTCGGCCAGGCCGGCCCCAC	0.617000														11			5		5.68852e-11	6.91301e-11	1	1	0
NXPH4	11247	broad.mit.edu	37	12	57619494	57619494	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57619494C>T	uc010srf.2	+	1	1066	c.891C>T	c.(889-891)gaC>gaT	p.D297D	NXPH4_uc009zpj.3_Silent_p.D103D	NM_007224	NP_009155	O95158	NXPH4_HUMAN	Homo sapiens neurexophilin 4 (NXPH4), mRNA.	297	V (Cys-rich).				neuropeptide signaling pathway	extracellular region				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)	10						TGTGCCCAGACTATAACTTCC	0.577000														21			14		0	0	1	0	0
ZNF678	339500	broad.mit.edu	37	1	227842667	227842667	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:227842667G>A	uc021pjy.1	+	3	1057	c.881G>A	c.(880-882)tGc>tAc	p.C294Y	ZNF678_uc001hqw.2_Missense_Mutation_p.C239Y|ZNF678_uc009xet.2_Intron|ZNF678_uc009xeu.2_Intron	NM_178549	NP_848644	F5GXA7	F5GXA7_HUMAN	Homo sapiens zinc finger protein 678 (ZNF678), transcript variant 1, mRNA.	294					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.C239F(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|pancreas(1)|prostate(1)	24		Prostate(94;0.0885)				CCCTACAAATGCAAAGAATGT	0.388000														72			38		0	0	1	0	0
MCM4	4173	broad.mit.edu	37	8	48887319	48887319	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:48887319G>A	uc003xqk.2	+	14	2988	c.2162G>A	c.(2161-2163)gGc>gAc	p.G721D	MCM4_uc003xql.2_Missense_Mutation_p.G721D|MCM4_uc011ldi.2_Missense_Mutation_p.G708D	NM_182746	NP_877423	P33991	MCM4_HUMAN	Homo sapiens minichromosome maintenance complex component 4 (MCM4), transcript variant 2, mRNA.	721					DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				AGGAAGATTGGCAGTAGCCGG	0.408000														145			98		0	0	1	0	0
C1QA	712	broad.mit.edu	37	1	22965859	22965859	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:22965859G>A	uc001bfy.3	+	2	782	c.697G>A	c.(697-699)Gac>Aac	p.D233N		NM_015991	NP_057075	P02745	C1QA_HUMAN	Homo sapiens complement component 1, q subcomponent, A chain (C1QA), mRNA.	233	C1q.				cell-cell signaling|complement activation, classical pathway|innate immune response	collagen|complement component C1 complex				autonomic_ganglia(1)|liver(1)|lung(3)|skin(1)	6		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.41e-27)|Colorectal(126;1.52e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.63e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000541)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CTCTGAGGCCGACAGCGTCTT	0.597000														15			14		0	0	1	0	0
VPS16	64601	broad.mit.edu	37	20	2845660	2845660	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:2845660G>A	uc002whe.3	+	19	2011	c.1963G>A	c.(1963-1965)Gcc>Acc	p.A655T	PTPRA_uc002whj.3_5'UTR|VPS16_uc002whf.3_Missense_Mutation_p.A511T|VPS16_uc002whg.3_Missense_Mutation_p.A341T	NM_022575	NP_072097	Q9H269	VPS16_HUMAN	Homo sapiens vacuolar protein sorting 16 homolog (S. cerevisiae) (VPS16), transcript variant 1, mRNA.	655					intracellular protein transport	HOPS complex|early endosome|late endosome membrane|lysosomal membrane|recycling endosome				NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						GCAGACAGCCGCCGATGCCTT	0.572000														35			29		0	0	1	0	0
CHRNA4	1137	broad.mit.edu	37	20	61981023	61981023	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:61981023G>A	uc002yes.2	-	4	1918	c.1740C>T	c.(1738-1740)gcC>gcT	p.A580A	CHRNA4_uc002yet.1_Silent_p.A404A|CHRNA4_uc010gke.1_Silent_p.A509A|CHRNA4_uc002yev.1_Silent_p.A404A|CHRNA4_uc010gkf.1_Silent_p.A404A	NM_000744	NP_000735	P43681	ACHA4_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 4 (CHRNA4), mRNA.	580					B cell activation|DNA repair|behavioral response to nicotine|calcium ion transport|cognition|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	p.K579K(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Nicotine(DB00184)|Varenicline(DB01273)	CTGTGTCTTCGGCCTTCAGGT	0.662000														51			28		0	0	1	0	0
DNM1P46	196968	broad.mit.edu	37	15	100331713	100331713	+	RNA	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:100331713T>C	uc021sxl.1	-	1		c.1440A>G			DNM1P46_uc010urx.1_Non-coding_Transcript|DNM1P46_uc010ury.2_Non-coding_Transcript					Homo sapiens DNM1 pseudogene 46 (DNM1P46), non-coding RNA.																		CCACAGTACCTCCCTTATTGG	0.562000														17			8		0	0	1	0	0
ANKRD11	29123	broad.mit.edu	37	16	89354940	89354940	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:89354940T>C	uc002fmx.1	-	6	1201	c.740A>G	c.(739-741)tAc>tGc	p.Y247C	ANKRD11_uc002fmy.1_Missense_Mutation_p.Y247C|ANKRD11_uc002fnc.1_Missense_Mutation_p.Y247C|ANKRD11_uc002fnd.3_Missense_Mutation_p.Y213C|ANKRD11_uc002fne.3_Missense_Mutation_p.Y213C|ANKRD11_uc002fnb.1_Missense_Mutation_p.Y204C	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	Homo sapiens ankyrin repeat domain 11 (ANKRD11), transcript variant 2, mRNA.	247						nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		GCCAACCTTGTAGTGCCCGTT	0.592000														26			17		0	0	1	0	0
PMVK	10654	broad.mit.edu	37	1	154898882	154898882	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:154898882G>A	uc001ffq.3	-	3	713	c.390C>T	c.(388-390)cgC>cgT	p.R130R		NM_006556	NP_006547	Q15126	PMVK_HUMAN	Homo sapiens phosphomevalonate kinase (PMVK), mRNA.	130					cholesterol biosynthetic process|protein phosphorylation	cytosol|peroxisome	ATP binding|phosphomevalonate kinase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.142)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			ACGCTACAACGCGGACCGTCT	0.627000														34			4		0	0	1	0	0
ZFX	7543	broad.mit.edu	37	X	24227140	24227140	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:24227140C>T	uc011mjv.2	+	8	1583	c.1334C>T	c.(1333-1335)tCc>tTc	p.S445F	ZFX_uc004dbd.2_Missense_Mutation_p.S406F|ZFX_uc004dbf.3_Missense_Mutation_p.S406F|ZFX_uc004dbe.3_Missense_Mutation_p.S406F|ZFX_uc022bua.1_Missense_Mutation_p.S406F|ZFX_uc010nfx.2_Missense_Mutation_p.S177F|ZFX_uc010nfy.1_Missense_Mutation_p.S257F|ZFX_uc010nfz.3_Intron	NM_001178086	NP_001171557	P17010	ZFX_HUMAN	Homo sapiens zinc finger protein, X-linked (ZFX), transcript variant 4, mRNA.	406					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						AGACCTGATTCCAGGCAGTAC	0.532000														36			28		0	0	1	0	0
CYSTM1	84418	broad.mit.edu	37	5	139574094	139574094	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:139574094C>T	uc003lfd.3	+	1	282	c.44C>T	c.(43-45)aCg>aTg	p.T15M	CYSTM1_uc010jfi.3_Intron	NM_032412	NP_115788	Q9H1C7	CE032_HUMAN	Homo sapiens chromosome 5 open reading frame 32 (C5orf32), mRNA.	15	Pro-rich.																CCTGGTCCAACGGCCCCATAC	0.517000														68			32		0	0	1	0	0
FAM207A	85395	broad.mit.edu	37	21	46380065	46380065	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:46380065C>T	uc002zgl.3	+	2	352	c.334C>T	c.(334-336)Cgt>Tgt	p.R112C	FAM207A_uc002zgm.3_Missense_Mutation_p.R97C	NM_058190	NP_478070	Q9NSI2	CU070_HUMAN	Homo sapiens family with sequence similarity 207, member A (FAM207A), mRNA.	112								p.R112C(1)									GAAGCTGAGGCGTGAGCAATG	0.567000														42			17		0	0	1	0	0
ARID2	196528	broad.mit.edu	37	12	46233126	46233126	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:46233126C>A	uc001ros.1	+	10	1345	c.1345C>A	c.(1345-1347)Ctg>Atg	p.L449M	ARID2_uc001ror.3_Missense_Mutation_p.L449M|ARID2_uc009zkg.1_5'UTR|ARID2_uc009zkh.1_Intron|ARID2_uc001rot.1_Missense_Mutation_p.L95M	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	Homo sapiens AT rich interactive domain 2 (ARID, RFX-like) (ARID2), mRNA.	449					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		GTTAGTGTGTCTGGTTTCTAT	0.338000			"""N, S, F"""		hepatocellular carcinoma									42			13		1.5842e-08	1.86177e-08	1	1	0
THNSL1	79896	broad.mit.edu	37	10	25312394	25312394	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:25312394G>A	uc001isi.4	+	2	571	c.242G>A	c.(241-243)tGt>tAt	p.C81Y	ENKUR_uc001ish.1_Intron|THNSL1_uc021pol.1_Missense_Mutation_p.C81Y	NM_024838	NP_079114	Q8IYQ7	THNS1_HUMAN	Homo sapiens threonine synthase-like 1 (S. cerevisiae) (THNSL1), mRNA.	81					threonine biosynthetic process		ATP binding|pyridoxal phosphate binding|shikimate kinase activity|threonine synthase activity			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(5)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28					L-Threonine(DB00156)|Pyridoxal Phosphate(DB00114)	AAACTAGGTTGTTGTGTCATA	0.388000														80			32		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179542594	179542594	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179542594C>T	uc021vsy.1	-	142	30538	c.30313G>A	c.(30313-30315)Gag>Aag	p.E10105K	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E6766K|TTN_uc010fre.1_Intron|TTN_uc002una.1_Non-coding_Transcript|TTN_uc010frf.1_Non-coding_Transcript	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	11032	Glu-rich.|Poly-Pro.						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)			AGAACTTCCTCTTCCTGAGGT	0.383000														50			27		0	0	1	0	0
MIR518A1	574488	broad.mit.edu	37	19	54234339	54234339	+	RNA	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:54234339T>G	uc021van.1	+	0		c.80T>G								Homo sapiens microRNA 518a-1 (MIR518A1), microRNA.																		GGATTACGGTTTGAGAAAAAC	0.473000														52			39		0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57595294	57595294	+	Missense_Mutation	SNP	G	A	A	rs149436792		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57595294G>A	uc001snd.3	+	65	10826	c.10360G>A	c.(10360-10362)Gcc>Acc	p.A3454T		NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	3454	LDL-receptor class A 24.				aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	p.A3454T(2)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GGTGACCTGCGCCCCCAACCA	0.607000														17			18		0	0	1	0	0
TINAG	27283	broad.mit.edu	37	6	54208113	54208113	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:54208113A>C	uc003pcj.2	+	4	860	c.714A>C	c.(712-714)aaA>aaC	p.K238N	TINAG_uc010jzt.2_Intron	NM_014464	NP_055279	Q9UJW2	TINAG_HUMAN	Homo sapiens tubulointerstitial nephritis antigen (TINAG), mRNA.	238					Malpighian tubule morphogenesis|cell adhesion|immune response|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			TGGATCAAAAAAATTGTGCTG	0.388000														43			26		0	0	1	0	0
PER2	8864	broad.mit.edu	37	2	239161906	239161906	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:239161906G>T	uc002vyc.3	-	18	2995	c.2758C>A	c.(2758-2760)Ctg>Atg	p.L920M	PER2_uc010znv.1_Missense_Mutation_p.L920M	NM_022817	NP_073728	O15055	PER2_HUMAN	Homo sapiens period homolog 2 (Drosophila) (PER2), mRNA.	920	Pro-rich.				circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		GCCTGGGGCAGGTTTGGGGTC	0.627000														59			8		2.17888e-05	2.40634e-05	1	1	0
SLC7A1	6541	broad.mit.edu	37	13	30097549	30097549	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:30097549G>A	uc001uso.3	-	6	1290	c.903C>T	c.(901-903)taC>taT	p.Y301Y		NM_003045	NP_003036	P30825	CTR1_HUMAN	Homo sapiens solute carrier family 7 (cationic amino acid transporter, y+ system), member 1 (SLC7A1), mRNA.	301					cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	receptor activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|stomach(1)|urinary_tract(2)	24		Lung SC(185;0.0257)|Breast(139;0.238)		all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179)	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	ACACCCCAAAGTAGGCGATGA	0.597000														26			24		0	0	1	0	0
TEX10	54881	broad.mit.edu	37	9	103092422	103092422	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:103092422T>C	uc004bas.3	-	5	1495	c.1280A>G	c.(1279-1281)aAc>aGc	p.N427S	TEX10_uc011lvf.2_Missense_Mutation_p.N266S|TEX10_uc011lvg.2_Missense_Mutation_p.N430S|TEX10_uc011lvh.1_Missense_Mutation_p.N362S	NM_017746	NP_060216	Q9NXF1	TEX10_HUMAN	Homo sapiens testis expressed 10 (TEX10), transcript variant 1, mRNA.	427						MLL1 complex|integral to membrane|nuclear membrane|nucleolus	binding			NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	38		Acute lymphoblastic leukemia(62;0.0527)		OV - Ovarian serous cystadenocarcinoma(323;0.157)		ATGATCTATGTTATTGGAGAG	0.373000														85			69		0	0	1	0	0
IQCF1	132141	broad.mit.edu	37	3	51937000	51937000	+	Splice_Site	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:51937000C>T	uc003dbv.3	-	2	206	c.108_splice	c.e2+1	p.E36_splice	IQCF1_uc003dbq.4_Splice_Site	NM_152397	NP_689610	Q8N6M8	IQCF1_HUMAN	Homo sapiens IQ motif containing F1 (IQCF1), mRNA.	36										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GCTCCTCCTACCTCTGCCTTT	0.493000														267			29		0	0	1	0	0
GAPDHS	26330	broad.mit.edu	37	19	36034625	36034625	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:36034625A>G	uc002oaf.1	+	8	1068	c.952A>G	c.(952-954)Acc>Gcc	p.T318A	AX747325_uc002oag.3_Intron|AX747325_uc021usq.1_3'UTR|TMEM147_uc002oaj.2_5'Flank|TMEM147_uc002oai.2_5'Flank|TMEM147_uc021usr.1_5'Flank	NM_014364	NP_055179	O14556	G3PT_HUMAN	Homo sapiens glyceraldehyde-3-phosphate dehydrogenase, spermatogenic (GAPDHS), mRNA.	318					gluconeogenesis|glycolysis|positive regulation of glycolysis|sperm motility	cytosol	NAD binding|glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)	11	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		NADH(DB00157)	CGTGGACCTGACCTGCCGCCT	0.612000														45			11		0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38781028	38781028	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:38781028G>T	uc003ciq.3	-	13	2258	c.2258C>A	c.(2257-2259)tCt>tAt	p.S753Y		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	753					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	CCGCAGCACAGACAGGCTTCC	0.512000														14			8		9.70103e-10	1.16071e-09	1	1	0
JMJD6	23210	broad.mit.edu	37	17	74714828	74714828	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:74714828G>A	uc002jso.3	-	5	1519	c.1195C>T	c.(1195-1197)Cgc>Tgc	p.R399C	JMJD6_uc002jsn.1_Missense_Mutation_p.R399C	NM_015167	NP_055982	Q6NYC1	JMJD6_HUMAN	Homo sapiens jumonji domain containing 6 (JMJD6), transcript variant 2, mRNA.	399					RNA splicing|mRNA processing|peptidyl-lysine hydroxylation to 5-hydroxy-L-lysine|regulation of nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|sprouting angiogenesis|transcription, DNA-dependent	nucleolus|nucleoplasm	histone demethylase activity (H3-R2 specific)|histone demethylase activity (H4-R3 specific)|identical protein binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptidyl-lysine 5-dioxygenase activity|single-stranded RNA binding			endometrium(2)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|skin(2)	16						GAGGAGCTGCGCTCTTTGCTG	0.642000														28			20		0	0	1	0	0
GOLGA1	2800	broad.mit.edu	37	9	127674201	127674201	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:127674201G>A	uc004bpc.3	-	10	1290	c.948C>T	c.(946-948)caC>caT	p.H316H	GOLGA1_uc010mws.3_Non-coding_Transcript|GOLGA1_uc010mwt.1_Silent_p.H291H	NM_002077	NP_002068	Q92805	GOGA1_HUMAN	Homo sapiens golgin A1 (GOLGA1), mRNA.	316						Golgi cisterna membrane				NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	20						GTTCTTGCAAGTGTTCTTCTC	0.438000														80			8		0	0	1	0	0
KIF26A	26153	broad.mit.edu	37	14	104643465	104643465	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:104643465G>T	uc001yos.4	+	11	4340	c.4340G>T	c.(4339-4341)aGc>aTc	p.S1447I		NM_015656	NP_056471	Q9ULI4	KI26A_HUMAN	Homo sapiens kinesin family member 26A (KIF26A), mRNA.	1447					blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		CTGGCGCACAGCAGCAGCAAG	0.701000														6			8		2.74318e-10	3.3084e-10	1	1	0
MLLT1	4298	broad.mit.edu	37	19	6222532	6222532	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:6222532C>T	uc002mek.3	-	5	874	c.710G>A	c.(709-711)cGg>cAg	p.R237Q		NM_005934	NP_005925	Q03111	ENL_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1 (MLLT1), mRNA.	237					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|protein binding			endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2)	17						CTTGGGCAGCCGGCCCTCGCC	0.642000			T	MLL	AL									23			5		0	0	1	0	0
TBC1D16	125058	broad.mit.edu	37	17	77921465	77921465	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:77921465G>A	uc002jxj.3	-	8	1823	c.1707C>T	c.(1705-1707)gaC>gaT	p.D569D	TBC1D16_uc002jxh.3_Silent_p.D207D|TBC1D16_uc002jxi.3_Silent_p.D194D|TBC1D16_uc002jxk.1_Silent_p.D207D	NM_019020	NP_061893	Q8TBP0	TBC16_HUMAN	Homo sapiens TBC1 domain family, member 16 (TBC1D16), mRNA.	569	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(3)	28	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819)			CCATGTCCTCGTCCCGGGGTG	0.607000														30			14		0	0	1	0	0
FRY	10129	broad.mit.edu	37	13	32826033	32826033	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:32826033T>C	uc001utx.3	+	49	7685	c.7189T>C	c.(7189-7191)Ttg>Ctg	p.L2397L	FRY_uc010tdw.2_Non-coding_Transcript	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	Homo sapiens furry homolog (Drosophila) (FRY), mRNA.	2397					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		AAAAGAGAAGTTGGTACATGT	0.403000														97			10		0	0	1	0	0
TCTEX1D1	200132	broad.mit.edu	37	1	67243109	67243109	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:67243109C>T	uc001dcv.3	+	4	643	c.512C>T	c.(511-513)gCa>gTa	p.A171V	TCTEX1D1_uc009wau.3_Non-coding_Transcript|TCTEX1D1_uc009wav.3_Non-coding_Transcript	NM_152665	NP_689878	Q8N7M0	TC1D1_HUMAN	Homo sapiens Tctex1 domain containing 1 (TCTEX1D1), mRNA.	171										large_intestine(2)|lung(10)|skin(1)	13						TTCGCTCTTGCAAATGTCTAT	0.368000														96			11		0	0	1	0	0
SMC2	10592	broad.mit.edu	37	9	106877012	106877012	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:106877012C>T	uc004bbv.3	+	12	1861	c.1573C>T	c.(1573-1575)Ctt>Ttt	p.L525F	SMC2_uc004bbu.1_Missense_Mutation_p.L525F|SMC2_uc004bbw.3_Missense_Mutation_p.L525F|SMC2_uc011lvl.2_Missense_Mutation_p.L525F|SMC2_uc004bbx.3_Missense_Mutation_p.L525F	NM_001042551	NP_006435	O95347	SMC2_HUMAN	Homo sapiens structural maintenance of chromosomes 2 (SMC2), transcript variant 2, mRNA.	525	Flexible hinge.				cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						TGTGAAAGGACTTGTGGCTTC	0.353000														57			7		0	0	1	0	0
VIT	5212	broad.mit.edu	37	2	37035650	37035650	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:37035650C>T	uc002rpl.3	+	14	1727	c.1425C>T	c.(1423-1425)caC>caT	p.H475H	VIT_uc002rpm.3_Silent_p.H460H|VIT_uc010ezv.3_Silent_p.H438H|VIT_uc010ezw.3_Silent_p.H439H	NM_053276	NP_444506	Q6UXI7	VITRN_HUMAN	Homo sapiens vitrin (VIT), transcript variant 1, mRNA.	460	VWFA 1.					proteinaceous extracellular matrix				autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				ACTCGCTCCACGTGCAGAGCT	0.607000														23			8		0	0	1	0	0
TASP1	55617	broad.mit.edu	37	20	13514789	13514789	+	Splice_Site	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:13514789C>T	uc002woi.3	-	9	793	c.676_splice	c.e9-1	p.E226_splice	TASP1_uc010zri.1_Intron|TASP1_uc010zrj.1_Splice_Site	NM_017714	NP_060184	Q9H6P5	TASP1_HUMAN	Homo sapiens taspase, threonine aspartase, 1 (TASP1), mRNA.	226					asparagine catabolic process via L-aspartate|positive regulation of transcription, DNA-dependent|protein maturation		threonine-type endopeptidase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(11)|liver(1)|lung(11)|stomach(2)|urinary_tract(2)	31						AGTCATTTTCCTGCAGAGCAA	0.478000														64			9		0	0	1	0	0
DECR2	26063	broad.mit.edu	37	16	461021	461021	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:461021C>T	uc002chb.3	+	6	712	c.606C>T	c.(604-606)cgC>cgT	p.R202R	DECR2_uc002chc.3_Silent_p.R118R|DECR2_uc002chd.3_Silent_p.R118R|DECR2_uc002che.1_Non-coding_Transcript	NM_020664	NP_065715	Q9NUI1	DECR2_HUMAN	Homo sapiens 2,4-dienoyl CoA reductase 2, peroxisomal (DECR2), mRNA.	202						peroxisome	2,4-dienoyl-CoA reductase (NADPH) activity|binding			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)	9		Hepatocellular(16;0.00015)				AAAACATCCGCGTCAACAGCC	0.642000														5			3		0	0	1	0	0
CTNNA1	1495	broad.mit.edu	37	5	138264967	138264967	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:138264967G>A	uc003ldh.3	+	13	2027	c.1932G>A	c.(1930-1932)gaG>gaA	p.E644E	CTNNA1_uc011cyx.2_Silent_p.E541E|CTNNA1_uc011cyy.2_Silent_p.E521E|CTNNA1_uc003ldi.3_Silent_p.E342E|CTNNA1_uc003ldj.3_Silent_p.E644E|CTNNA1_uc003ldl.3_Silent_p.E274E	NM_001903	NP_001894	P35221	CTNA1_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 1, 102kDa (CTNNA1), mRNA.	644					adherens junction organization|apical junction assembly|cell adhesion|cellular response to indole-3-methanol|muscle cell differentiation|positive regulation of muscle cell differentiation	actin cytoskeleton|catenin complex|cytosol	beta-catenin binding|cadherin binding|gamma-catenin binding|structural molecule activity|vinculin binding			NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			CTGACTTTGAGACAGAAGATT	0.582000														51			31		0	0	1	0	0
TPR	7175	broad.mit.edu	37	1	186329083	186329083	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:186329083T>C	uc001grv.3	-	11	1534	c.1237A>G	c.(1237-1239)Aaa>Gaa	p.K413E	MIR548F1_uc021pgf.1_Intron|TPR_uc010pop.2_Missense_Mutation_p.K489E	NM_003292	NP_003283	P12270	TPR_HUMAN	Homo sapiens translocated promoter region (to activated MET oncogene) (TPR), mRNA.	413					carbohydrate metabolic process|glucose transport|mRNA transport|mitotic cell cycle spindle assembly checkpoint|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		TTCTCTAGTTTCTCCAAAAGC	0.363000			T	NTRK1	papillary thyroid									41			24		0	0	1	0	0
SULT1C2	6819	broad.mit.edu	37	2	108921684	108921684	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:108921684C>T	uc002tdy.3	+	5	1012	c.559C>T	c.(559-561)Cac>Tac	p.H187Y	SULT1C2_uc010ywp.1_Missense_Mutation_p.H102Y|SULT1C2_uc010ywq.2_Missense_Mutation_p.H201Y|SULT1C2_uc002tdx.3_Missense_Mutation_p.H198Y	NM_001056	NP_001047	O00338	ST1C2_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 1C, member 2 (SULT1C2), transcript variant 1, mRNA.	187					3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine metabolic process|sulfation|xenobiotic metabolic process	cytosol|microtubule cytoskeleton	sulfotransferase activity			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						GAAAGACAGACACCAGATTCT	0.438000														92			9		0	0	1	0	0
TMPRSS9	360200	broad.mit.edu	37	19	2421892	2421892	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:2421892G>A	uc010xgx.2	+	12	2093	c.2093G>A	c.(2092-2094)gGc>gAc	p.G698D		NM_182973	NP_892018	Q7Z410	TMPS9_HUMAN	Homo sapiens transmembrane protease, serine 9 (TMPRSS9), mRNA.	698	Peptidase S1 2.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GAGGCCCCTGGCGTGTTTTAT	0.617000														54			26		0	0	1	0	0
PRICKLE2	166336	broad.mit.edu	37	3	64184478	64184478	+	Silent	SNP	C	T	T	rs145790169		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:64184478C>T	uc003dmf.3	-	1	712	c.126G>A	c.(124-126)ccG>ccA	p.P42P		NM_198859	NP_942559	Q7Z3G6	PRIC2_HUMAN	Homo sapiens prickle homolog 2 (Drosophila) (PRICKLE2), mRNA.	42	PET.					cytoplasm|nuclear membrane	zinc ion binding			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		GCTTCAGACCCGGCGGGACCC	0.512000														23			18		0	0	1	0	0
TEDDM1	127670	broad.mit.edu	37	1	182369445	182369445	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:182369445A>G	uc001gpe.3	-	0	307	c.176T>C	c.(175-177)gTg>gCg	p.V59A		NM_172000	NP_741997	Q5T9Z0	TEDM1_HUMAN	Homo sapiens transmembrane epididymal protein 1 (TEDDM1), mRNA.	59						integral to membrane				haematopoietic_and_lymphoid_tissue(1)|lung(4)|ovary(2)	7						CCTTGATGGCACTTGCTTCCT	0.473000														60			40		0	0	1	0	0
SMG6	23293	broad.mit.edu	37	17	2203472	2203472	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:2203472G>A	uc002fub.1	-	1	630	c.575C>T	c.(574-576)gCg>gTg	p.A192V	SMG6_uc002fud.2_Missense_Mutation_p.A161V	NM_017575	NP_060045	Q86US8	EST1A_HUMAN	Homo sapiens smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans) (SMG6), transcript variant 1, mRNA.	192	Interaction with telomeric DNA.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance	chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex	endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						TGGTTTATTCGCAACTTCCTC	0.522000														232			105		0	0	1	0	0
ODZ2	57451	broad.mit.edu	37	5	167674983	167674983	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:167674983T>C	uc010jjd.3	+	26	7012	c.7012T>C	c.(7012-7014)Tac>Cac	p.Y2338H	ODZ2_uc003lzr.4_Missense_Mutation_p.Y2108H|ODZ2_uc003lzt.4_Missense_Mutation_p.Y1711H|ODZ2_uc010jje.3_Missense_Mutation_p.Y1602H	NM_001122679	NP_001116151			Homo sapiens odz, odd Oz/ten-m homolog 2 (Drosophila) (ODZ2), mRNA.											NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|lung(45)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(2)	122	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		TACCTCACTGTACTACGACCT	0.552000														51			24		0	0	1	0	0
CAPN11	11131	broad.mit.edu	37	6	44145044	44145044	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:44145044G>A	uc003owt.1	+	11	1341	c.1303G>A	c.(1303-1305)Gca>Aca	p.A435T	CAPN11_uc011dvn.2_Missense_Mutation_p.A89T	NM_007058	NP_008989	Q9UMQ6	CAN11_HUMAN	Homo sapiens calpain 11 (CAPN11), mRNA.	435	Domain III.				proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	p.D434D(1)		breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			AGAGGATGACGCAGAGGGCAA	0.597000														19			8		0	0	1	0	0
RPS10P7	376693	broad.mit.edu	37	1	201489572	201489572	+	RNA	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:201489572C>A	uc010ppt.2	+	0		c.541C>A								Homo sapiens ribosomal protein S10 pseudogene 7 (RPS10P7), non-coding RNA.																		AAACGGAGTGCTGTGCCCCCT	0.572000														15			12		4.36969e-10	5.24943e-10	1	1	0
TMEM161A	54929	broad.mit.edu	37	19	19243998	19243998	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:19243998C>T	uc002nlg.3	-	2	159	c.129G>A	c.(127-129)ccG>ccA	p.P43P	TMEM161A_uc002nli.3_Silent_p.P43P	NM_017814	NP_060284	Q9NX61	T161A_HUMAN	Homo sapiens transmembrane protein 161A (TMEM161A), mRNA.	43					cellular response to UV|cellular response to oxidative stress|negative regulation of apoptosis|positive regulation of DNA repair|response to retinoic acid	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	15			OV - Ovarian serous cystadenocarcinoma(5;1.19e-05)|Epithelial(12;0.0011)			CCTCCTCAGACGGGTGCTTGT	0.647000														28			10		0	0	1	0	0
HOOK2	29911	broad.mit.edu	37	19	12883718	12883718	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:12883718C>T	uc002muy.2	-	4	435	c.264G>A	c.(262-264)gcG>gcA	p.A88A	HOOK2_uc002muz.2_Silent_p.A88A	NM_013312	NP_037444	Q96ED9	HOOK2_HUMAN	Homo sapiens hook homolog 2 (Drosophila) (HOOK2), transcript variant 1, mRNA.	88	Required for localization to the centrosome and induction of aggresome formation.|Sufficient for interaction with microtubules.				early endosome to late endosome transport|endocytosis|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|protein transport	FHF complex|centrosome|microtubule	identical protein binding|microtubule binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1)	20						ACACAGGATGCGCCAGGACCT	0.592000														38			16		0	0	1	0	0
TTC26	79989	broad.mit.edu	37	7	138872160	138872160	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:138872160G>T	uc003vus.2	+	16	1542	c.1428G>T	c.(1426-1428)caG>caT	p.Q476H	TTC26_uc011kqn.1_Intron|TTC26_uc011kqo.1_Missense_Mutation_p.Q445H|TTC26_uc011kqp.1_Missense_Mutation_p.Q371H|TTC26_uc003vut.2_Missense_Mutation_p.Q336H|TTC26_uc011kqq.1_Missense_Mutation_p.Q345H	NM_024926	NP_079202	A0AVF1	TTC26_HUMAN	Homo sapiens tetratricopeptide repeat domain 26 (TTC26), transcript variant 1, mRNA.	476							binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	24						AGATGGGCCAGTTTTACTATT	0.433000														139			51		1.4374e-25	1.88212e-25	1	1	0
UBR5	51366	broad.mit.edu	37	8	103327066	103327066	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:103327066C>A	uc003ykr.2	-	14	2255	c.1800G>T	c.(1798-1800)caG>caT	p.Q600H	UBR5_uc003yks.2_Missense_Mutation_p.Q600H	NM_015902	NP_056986	O95071	UBR5_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 5 (UBR5), mRNA.	600					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	RNA binding|protein binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TCACTGGCTCCTGCTTACTTT	0.373000														15			16		9.16793e-09	1.08001e-08	1	1	0
TCHHL1	126637	broad.mit.edu	37	1	152059177	152059177	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:152059177G>A	uc001ezo.1	-	2	1046	c.981C>T	c.(979-981)gtC>gtT	p.V327V		NM_001008536	NP_001008536	Q5QJ38	TCHL1_HUMAN	Homo sapiens trichohyalin-like 1 (TCHHL1), mRNA.	327							calcium ion binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			ACATTCTACAGACATCCTTGG	0.463000														158			122		0	0	1	0	0
ODZ4	26011	broad.mit.edu	37	11	78443582	78443582	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:78443582G>A	uc001ozl.4	-	20	3380	c.2917C>T	c.(2917-2919)Cgg>Tgg	p.R973W		NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA.	973					signal transduction	integral to membrane				breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						CGCTCGAACCGCAGGATGATG	0.547000														12			9		0	0	1	0	0
RNF213	57674	broad.mit.edu	37	17	78321958	78321958	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:78321958C>A	uc002jyh.2	+	29	10113	c.9970C>A	c.(9970-9972)Ctg>Atg	p.L3324M	RNF213_uc021uen.1_Missense_Mutation_p.L3275M	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	SubName: Full=Uncharacterized protein;	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			CGCCTACTCGCTGGGCGGGTT	0.597000														42			6		0.000157383	0.000170012	1	1	0
HLA-DPB1	3115	broad.mit.edu	37	6	33054010	33054010	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:33054010G>A	uc003ocu.2	+	4	888	c.772G>A	c.(772-774)Gca>Aca	p.A258T	HLA-DPB1_uc011dqo.2_Non-coding_Transcript	NM_002121	NP_002112	P04440	DPB1_HUMAN	Homo sapiens major histocompatibility complex, class II, DP beta 1 (HLA-DPB1), mRNA.	258					T cell costimulation|T cell receptor signaling pathway|antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway	Golgi apparatus|MHC class II protein complex|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	11						ACGAGGATCTGCATAAACAGG	0.418000														67			5		0	0	1	0	0
EDIL3	10085	broad.mit.edu	37	5	83433159	83433159	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:83433159G>A	uc003kio.1	-	4	788	c.369C>T	c.(367-369)tgC>tgT	p.C123C	EDIL3_uc003kip.1_Silent_p.C113C	NM_005711	NP_005702	O43854	EDIL3_HUMAN	Homo sapiens EGF-like repeats and discoidin I-like domains 3 (EDIL3), mRNA.	123	EGF-like 3.				cell adhesion|multicellular organismal development	extracellular region	calcium ion binding|integrin binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		GCTCAACTTCGCATTCATTTA	0.333000														47			31		0	0	1	0	0
KCNQ2	3785	broad.mit.edu	37	20	62071046	62071046	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:62071046T>C	uc002yey.1	-	5	1009	c.832A>G	c.(832-834)Att>Gtt	p.I278V	KCNQ2_uc002yez.1_Missense_Mutation_p.I278V|KCNQ2_uc002yfa.1_Missense_Mutation_p.I278V|KCNQ2_uc002yfb.1_Missense_Mutation_p.I278V|KCNQ2_uc011aax.1_Missense_Mutation_p.I278V|KCNQ2_uc002yfc.1_Missense_Mutation_p.I278V	NM_172107	NP_742105	O43526	KCNQ2_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 2 (KCNQ2), transcript variant 1, mRNA.	278					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)	CCGTAGCCAATGGTGGTCAGC	0.642000														27			18		0	0	1	0	0
UGT1A1	54658	broad.mit.edu	37	2	234526719	234526719	+	Silent	SNP	G	A	A	rs28969669		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:234526719G>A	uc002vup.3	+	0	429	c.366G>A	c.(364-366)tcG>tcA	p.S122S	UGT1A1_uc010zmv.1_Silent_p.S122S	NM_019076	NP_061949	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A8 (UGT1A8), mRNA.	125					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	TATTTTTTTCGCATTGCAGGA	0.353000														103			49		0	0	1	0	0
IQSEC3	440073	broad.mit.edu	37	12	247931	247931	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:247931G>A	uc001qhw.2	+	3	1402	c.1402G>A	c.(1402-1404)Gcg>Acg	p.A468T	IQSEC3_uc001qhu.1_Missense_Mutation_p.A165T|LOC574538_uc001qhv.1_Intron	NM_001170738	NP_001164209	Q9UPP2	IQEC3_HUMAN	Homo sapiens IQ motif and Sec7 domain 3 (IQSEC3), transcript variant 1, mRNA.	468					regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		ggATGACGCCGCGGAGACCCC	0.761000														6			3		0	0	1	0	0
GORASP1	64689	broad.mit.edu	37	3	39142345	39142345	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:39142345G>A	uc003ciw.1	-	4	557	c.459C>T	c.(457-459)atC>atT	p.I153I	GORASP1_uc003civ.1_Non-coding_Transcript|GORASP1_uc003cix.1_Non-coding_Transcript|GORASP1_uc003ciy.1_Non-coding_Transcript|GORASP1_uc011ayw.1_Silent_p.I58I|GORASP1_uc003ciz.1_Intron	NM_031899	NP_114105	Q9BQQ3	GORS1_HUMAN	Homo sapiens golgi reassembly stacking protein 1, 65kDa (GORASP1), mRNA.	153					mitotic prophase|protein transport	Golgi apparatus|cytosol|membrane				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(1)|ovary(3)|urinary_tract(1)	14				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		CATGAGACTCGATGAGCGTAA	0.542000											OREG0015486	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		93			49		0	0	1	0	0
FAM217A	222826	broad.mit.edu	37	6	4070035	4070035	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:4070035G>T	uc003mvx.3	-	6	828	c.422C>A	c.(421-423)cCt>cAt	p.P141H	FAM217A_uc010jnq.1_Intron|FAM217A_uc003mvy.3_Missense_Mutation_p.P78H	NM_173563	NP_775834	Q8IXS0	CF146_HUMAN	Homo sapiens chromosome 6 open reading frame 146 (C6orf146), mRNA.	141																	TGGCAGTCCAGGGTAAGGACC	0.403000														44			26		3.6726e-16	4.64609e-16	1	1	0
B4GALNT1	2583	broad.mit.edu	37	12	58024986	58024986	+	Missense_Mutation	SNP	G	A	A	rs141063083		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:58024986G>A	uc001spg.1	-	2	812	c.380C>T	c.(379-381)tCg>tTg	p.S127L	B4GALNT1_uc010sru.2_Intron|B4GALNT1_uc010srv.2_Missense_Mutation_p.S127L|B4GALNT1_uc001spi.3_Missense_Mutation_p.S127L|B4GALNT1_uc010srw.1_Missense_Mutation_p.S204L	NM_001478	NP_001469	Q00973	B4GN1_HUMAN	Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 1 (B4GALNT1), mRNA.	127					lipid glycosylation	integral to Golgi membrane|membrane fraction	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1)	20	Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			CTGGTACCTCGACAGAAAGGC	0.587000														261			13		0	0	1	0	0
TUBB7P	56604	broad.mit.edu	37	4	190903882	190903882	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:190903882G>T	uc011clg.2	-	3	1103	c.885C>A	c.(883-885)ttC>ttA	p.F295L				Q99867	TBB4Q_HUMAN	Synthetic construct DNA, clone: pF1KB7231, Homo sapiens TUBB4Q gene for tubulin, beta polypeptide 4, member Q, without stop codon, in Flexi system.	367					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity										TGTTCCCAGTGAAGGTGACTG	0.537000														102			9		3.09899e-07	3.55757e-07	1	1	0
LY6G6C	80740	broad.mit.edu	37	6	31689450	31689450	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31689450C>T	uc003nwh.3	-	0	62	c.7G>A	c.(7-9)Gcc>Acc	p.A3T	LY6G6C_uc010jtd.3_Non-coding_Transcript|C6orf25_uc021yux.1_5'Flank|C6orf25_uc011doc.2_5'Flank|C6orf25_uc003nwk.3_5'Flank|C6orf25_uc011dod.2_5'Flank|C6orf25_uc003nwn.3_5'Flank|C6orf25_uc011doe.2_5'Flank|C6orf25_uc003nwo.3_5'Flank	NM_025261	NP_079537	O95867	LY66C_HUMAN	Homo sapiens lymphocyte antigen 6 complex, locus G6C (LY6G6C), mRNA.	3						anchored to membrane|plasma membrane				NS(1)|large_intestine(1)|lung(1)|skin(1)	4						AGCATAAGGGCTTTCATGGCG	0.537000														26			13		0	0	1	0	0
C15orf54	400360	broad.mit.edu	37	15	39544356	39544356	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:39544356C>A	uc001zkg.2	+	1	388	c.20C>A	c.(19-21)aCt>aAt	p.T7N	C15orf54_uc021sjb.1_Missense_Mutation_p.T7N	NM_207445	NP_997328	Q8N8G6	CO054_HUMAN	Homo sapiens chromosome 15 open reading frame 54 (C15orf54), mRNA.	7										NS(1)|haematopoietic_and_lymphoid_tissue(2)|lung(2)	5		all_cancers(109;5.39e-14)|all_epithelial(112;3.14e-12)|Lung NSC(122;9.74e-10)|all_lung(180;2.23e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)		GBM - Glioblastoma multiforme(113;1.19e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0706)		AAATTCATTACTGGCAAGCAC	0.473000														193			22		1.10513e-12	1.3661e-12	1	1	0
IRS4	8471	broad.mit.edu	37	X	107977626	107977626	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:107977626C>A	uc004eoc.2	-	0	1982	c.1949G>T	c.(1948-1950)gGg>gTg	p.G650V		NM_003604	NP_003595	O14654	IRS4_HUMAN	Homo sapiens insulin receptor substrate 4 (IRS4), mRNA.	650						plasma membrane	SH3/SH2 adaptor activity|insulin receptor binding|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						GAATCTTCCCCCAGACTTCCC	0.498000														267			143		1.91924e-68	2.56122e-68	1	1	0
DNMT1	1786	broad.mit.edu	37	19	10254557	10254557	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10254557G>T	uc002mng.3	-	27	3133	c.2953C>A	c.(2953-2955)Ctg>Atg	p.L985M	DNMT1_uc002mnf.3_5'UTR|DNMT1_uc010xlc.2_Missense_Mutation_p.L1001M|DNMT1_uc002mnh.3_Missense_Mutation_p.L880M|DNMT1_uc010xld.2_Missense_Mutation_p.L985M	NM_001379	NP_001370	P26358	DNMT1_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 1 (DNMT1), transcript variant 2, mRNA.	985	BAH 2.				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	GGGGCATCCAGGTTGCTGCCT	0.562000														198			34		1.36161e-19	1.75324e-19	1	1	0
PLA2G4D	283748	broad.mit.edu	37	15	42360978	42360978	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:42360978G>A	uc001zox.3	-	19	2487	c.2392C>T	c.(2392-2394)Cag>Tag	p.Q798*		NM_178034	NP_828848	Q86XP0	PA24D_HUMAN	Homo sapiens phospholipase A2, group IVD (cytosolic) (PLA2G4D), mRNA.	798	PLA2c.				phospholipid catabolic process	cytoplasmic vesicle membrane|cytosol	metal ion binding|phospholipase A2 activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		CTCAGGGCCTGCAGGATGGCA	0.637000														12			9		0	0	1	0	0
VPS11	55823	broad.mit.edu	37	11	118944660	118944660	+	Splice_Site	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:118944660C>T	uc010ryx.2	+	8	1274	c.1232_splice	c.e8+1	p.R411_splice	VPS11_uc010ryy.2_Splice_Site_p.R259_splice	NM_021729	NP_068375	Q9H270	VPS11_HUMAN	Homo sapiens vacuolar protein sorting 11 homolog (S. cerevisiae) (VPS11), mRNA.	413					protein transport	HOPS complex|endocytic vesicle|late endosome membrane|lysosomal membrane	nucleotide binding|protein binding|zinc ion binding			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	29	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)		GCAATATATCCGGTCAGTCTG	0.527000														11			9		0	0	1	0	0
FAM129A	116496	broad.mit.edu	37	1	184764288	184764288	+	Silent	SNP	G	A	A	rs150744246		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:184764288G>A	uc001gra.3	-	13	2804	c.2610C>T	c.(2608-2610)agC>agT	p.S870S	FAM129A_uc001grb.1_Intron	NM_052966	NP_443198	Q9BZQ8	NIBAN_HUMAN	Homo sapiens family with sequence similarity 129, member A (FAM129A), transcript variant 2, mRNA.	870					negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						CCTGGGCCGCGCTGCTTTGCC	0.577000														59			53		0	0	1	0	0
BCLAF1	9774	broad.mit.edu	37	6	136582540	136582540	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:136582540C>A	uc003qgx.1	-	11	2873	c.2620G>T	c.(2620-2622)Ggg>Tgg	p.G874W	BCLAF1_uc011edb.1_Missense_Mutation_p.G153W|BCLAF1_uc003qgy.1_Missense_Mutation_p.G823W|BCLAF1_uc011edc.1_Non-coding_Transcript|BCLAF1_uc011edd.1_Non-coding_Transcript|BCLAF1_uc011ede.1_Missense_Mutation_p.G872W|BCLAF1_uc003qgw.1_Missense_Mutation_p.G701W	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	Homo sapiens BCL2-associated transcription factor 1 (BCLAF1), transcript variant 1, mRNA.	874					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			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)		TTAAAGCGCCCTCTGCCACGT	0.423000														254			57		9.72345e-25	1.27047e-24	1	1	0
SFTPA1	653509	broad.mit.edu	37	10	81373771	81373771	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:81373771G>T	uc009xry.3	+	5	776	c.694G>T	c.(694-696)Gca>Tca	p.A232S	SFTPA1_uc001kap.3_Missense_Mutation_p.A217S|SFTPA1_uc001kar.3_Missense_Mutation_p.A217S|SFTPA1_uc001kaq.3_Missense_Mutation_p.A217S|SFTPA1_uc001kao.3_Missense_Mutation_p.A183S|SFTPA1_uc021puu.1_Missense_Mutation_p.A168S|SFTPA1_uc010qlt.2_Missense_Mutation_p.A158S|SFTPA1_uc009xrz.3_Missense_Mutation_p.A147S	NM_001093770	NP_005402	Q8IWL2	SFTA1_HUMAN	Homo sapiens surfactant protein A1 (SFTPA1), transcript variant 2, mRNA.	217	C-type lectin.				cell junction assembly|respiratory gaseous exchange	collagen|extracellular space	lipid transporter activity|sugar binding			endometrium(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)			AGGGGAGCCCGCAGGTCGGGG	0.562000														143			15		2.23348e-06	2.52156e-06	1	1	0
MAP1LC3A	84557	broad.mit.edu	37	20	33147655	33147655	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:33147655G>A	uc002xaq.1	+	3	473	c.319G>A	c.(319-321)Ggc>Agc	p.G107S	MAP1LC3A_uc002xap.1_Missense_Mutation_p.G111S	NM_032514	NP_115903	Q9H492	MLP3A_HUMAN	Homo sapiens microtubule-associated protein 1 light chain 3 alpha (MAP1LC3A), transcript variant 1, mRNA.	107					autophagic vacuole assembly	autophagic vacuole membrane|cytoplasmic vesicle|cytosol|endomembrane system|microtubule	phosphatidylethanolamine binding|protein binding			cervix(1)|kidney(1)|large_intestine(1)|upper_aerodigestive_tract(2)	5						AGACGAGGACGGCTTCCTCTA	0.637000														38			24		0	0	1	0	0
C3orf15	89876	broad.mit.edu	37	3	119449127	119449127	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:119449127G>A	uc003ede.4	+	7	998	c.921G>A	c.(919-921)caG>caA	p.Q307Q	C3orf15_uc010hqy.2_Silent_p.Q307Q|C3orf15_uc010hqz.3_Silent_p.Q245Q|C3orf15_uc011bjd.2_Silent_p.Q181Q|C3orf15_uc011bje.2_Silent_p.Q287Q|C3orf15_uc010hra.2_Silent_p.Q68Q	NM_033364	NP_203528	Q7Z4T9	AAT1_HUMAN	Homo sapiens chromosome 3 open reading frame 15 (C3orf15), mRNA.	307						mitochondrion	protein binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.186)		AAGAGAATCAGAATGAAGTGA	0.418000														101			63		0	0	1	0	0
SON	6651	broad.mit.edu	37	21	34939572	34939572	+	Splice_Site	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:34939572G>T	uc002yse.1	+	7	6817	c.6768_splice	c.e7+1	p.R2256_splice	SON_uc002ysd.3_Splice_Site_p.R1247_splice|SON_uc002ysf.1_Splice_Site_p.R284_splice|SON_uc002ysg.3_Missense_Mutation_p.R1247M	NM_138927	NP_620305	P18583	SON_HUMAN	Homo sapiens SON DNA binding protein (SON), transcript variant f, mRNA.	2256					RNA splicing|anti-apoptosis|cytokinesis|mRNA processing|regulation of RNA splicing|regulation of cell cycle|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						GCTCAGGAAAGGGTATGTAGC	0.353000														39			9		0.0581538	0.0591027	1	1	0
MYH9	4627	broad.mit.edu	37	22	36716362	36716362	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:36716362A>G	uc003apg.3	-	8	1146	c.915T>C	c.(913-915)aaT>aaC	p.N305N	MYH9_uc003aph.1_Silent_p.N169N	NM_002473	NP_002464	P35579	MYH9_HUMAN	Homo sapiens myosin, heavy chain 9, non-muscle (MYH9), mRNA.	305	Myosin head-like.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	ADP binding|ATP binding|actin filament binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						TGACGTGTCCATTGGACAGGA	0.577000			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated					92			7		0	0	1	0	0
BPIFB4	149954	broad.mit.edu	37	20	31671602	31671602	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:31671602G>T	uc010zue.2	+	2	614	c.599G>T	c.(598-600)gGa>gTa	p.G200V		NM_182519	NP_872325	P59827	LPLC4_HUMAN	Homo sapiens BPI fold containing family B, member 4 (BPIFB4), mRNA.	200	Gly-rich.					cytoplasm|extracellular region	lipid binding										CTTGGTGATGGAGGACTTCTT	0.657000														28			15		5.03518e-11	6.129e-11	1	1	0
BBS9	27241	broad.mit.edu	37	7	33380508	33380508	+	Splice_Site	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:33380508G>A	uc003tdn.1	+	11	1712	c.1199_splice	c.e11-1	p.G400_splice	BBS9_uc003tdo.1_Splice_Site_p.G400_splice|BBS9_uc003tdp.1_Splice_Site_p.G400_splice|BBS9_uc003tdq.1_Splice_Site_p.G400_splice|BBS9_uc010kwn.1_Splice_Site|BBS9_uc011kao.1_Splice_Site_p.G278_splice	NM_198428	NP_940820	Q3SYG4	PTHB1_HUMAN	Homo sapiens Bardet-Biedl syndrome 9 (BBS9), transcript variant 2, mRNA.	400					fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding		BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			TTAAATCACAGGTGTTTGGCC	0.308000									Bardet-Biedl syndrome					30			40		0	0	1	0	0
PHLPP2	23035	broad.mit.edu	37	16	71710385	71710385	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:71710385C>T	uc002fax.3	-	7	1442	c.1436G>A	c.(1435-1437)gGc>gAc	p.G479D	PHLPP2_uc002fav.3_Non-coding_Transcript|PHLPP2_uc010cgf.3_Missense_Mutation_p.G479D	NM_015020	NP_055835	Q6ZVD8	PHLP2_HUMAN	Homo sapiens PH domain and leucine rich repeat protein phosphatase 2 (PHLPP2), mRNA.	479						cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						AAGGGAAAAGCCACTGAGTGT	0.502000														26			14		0	0	1	0	0
DIABLO	56616	broad.mit.edu	37	12	122693109	122693109	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:122693109G>T	uc010tab.2	-	6	1344	c.539C>A	c.(538-540)tCt>tAt	p.S180Y	DIABLO_uc010taa.2_Missense_Mutation_p.S127Y|DIABLO_uc010tac.2_Non-coding_Transcript|DIABLO_uc010tad.2_Missense_Mutation_p.S136Y|VPS33A_uc001ucc.3_Non-coding_Transcript	NM_019887	NP_063940	Q9NR28	DBLOH_HUMAN	Homo sapiens diablo, IAP-binding mitochondrial protein (DIABLO), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	180					activation of caspase activity by cytochrome c|induction of apoptosis via death domain receptors	CD40 receptor complex|cytosol|internal side of plasma membrane|mitochondrial intermembrane space	protein binding			breast(1)|endometrium(3)|large_intestine(1)|lung(1)|ovary(1)	7	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000302)|Epithelial(86;0.00051)|BRCA - Breast invasive adenocarcinoma(302;0.223)		GGCGGTTATAGAGGCCTGATC	0.582000														14			11		1.61879e-10	1.95797e-10	1	1	0
MYO18B	84700	broad.mit.edu	37	22	26272246	26272246	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:26272246C>A	uc003abz.1	+	23	4421	c.4171C>A	c.(4171-4173)Ctc>Atc	p.L1391I	MYO18B_uc003aca.1_Missense_Mutation_p.L1272I|MYO18B_uc010guy.1_Missense_Mutation_p.L1273I|MYO18B_uc010guz.1_Missense_Mutation_p.L1272I|MYO18B_uc011aka.1_Missense_Mutation_p.L545I|MYO18B_uc011akb.1_Missense_Mutation_p.L904I	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	1391						nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GCTTGGTTCCCTCCAGCCTCT	0.592000														15			12		6.40141e-05	6.99953e-05	1	1	0
ADAMTSL3	57188	broad.mit.edu	37	15	84581936	84581936	+	Missense_Mutation	SNP	C	T	T	rs139144597		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:84581936C>T	uc002bjz.4	+	15	2017	c.1793C>T	c.(1792-1794)aCg>aTg	p.T598M	ADAMTSL3_uc010bmt.1_Missense_Mutation_p.T598M	NM_207517	NP_997400	P82987	ATL3_HUMAN	Homo sapiens ADAMTS-like 3 (ADAMTSL3), mRNA.	598	TSP type-1 4.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			CTCACATTCACGCAGACTGAG	0.622000														53			7		0	0	1	0	0
LYST	1130	broad.mit.edu	37	1	235922740	235922740	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:235922740G>T	uc001hxj.2	-	22	6588	c.6413C>A	c.(6412-6414)aCt>aAt	p.T2138N	LYST_uc009xgb.1_Non-coding_Transcript|LYST_uc010pxs.1_Non-coding_Transcript	NM_000081	NP_000072	Q99698	LYST_HUMAN	Homo sapiens lysosomal trafficking regulator (LYST), mRNA.	2138					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			GGCAACATAAGTATCTGCAAT	0.418000														66			54		4.1673e-28	5.48252e-28	1	1	0
DOCK5	80005	broad.mit.edu	37	8	25230229	25230229	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:25230229G>A	uc003xeg.3	+	34	3816	c.3679G>A	c.(3679-3681)Gtg>Atg	p.V1227M	DOCK5_uc010luf.1_Non-coding_Transcript|DOCK5_uc003xeh.1_Missense_Mutation_p.V941M|DOCK5_uc003xek.3_Missense_Mutation_p.V16M|DOCK5_uc003xei.3_Missense_Mutation_p.V797M|DOCK5_uc003xej.3_Non-coding_Transcript	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN	Homo sapiens dedicator of cytokinesis 5 (DOCK5), mRNA.	1227	DHR-2.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	p.N1226N(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		CACTGTGAACGTGCTGGTATG	0.557000														10			6		0	0	1	0	0
RTTN	25914	broad.mit.edu	37	18	67725039	67725039	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:67725039C>T	uc002lkp.2	-	36	5038	c.4970G>A	c.(4969-4971)tGt>tAt	p.C1657Y	RTTN_uc002lko.2_Non-coding_Transcript|RTTN_uc010xfb.1_Missense_Mutation_p.C745Y|RTTN_uc010dqp.2_5'UTR	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN	Homo sapiens rotatin (RTTN), mRNA.	1657							binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				TTCCTGGACACATGTCTGTAT	0.413000														25			7		0	0	1	0	0
MMP27	64066	broad.mit.edu	37	11	102562576	102562576	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:102562576T>C	uc001phd.1	-	9	1486	c.1463A>G	c.(1462-1464)aAg>aGg	p.K488R		NM_022122	NP_071405	Q9H306	MMP27_HUMAN	Homo sapiens matrix metallopeptidase 27 (MMP27), mRNA.	488					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)		ATACAATATCTTTATGCCTCC	0.299000														75			8		0	0	1	0	0
TRIO	7204	broad.mit.edu	37	5	14399169	14399169	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:14399169G>A	uc003jff.3	+	29	4610	c.4604G>A	c.(4603-4605)aGc>aAc	p.S1535N	TRIO_uc003jfg.3_Non-coding_Transcript|TRIO_uc011cna.1_Missense_Mutation_p.S1486N|TRIO_uc003jfh.1_Missense_Mutation_p.S1184N	NM_007118	NP_009049	O75962	TRIO_HUMAN	Homo sapiens triple functional domain (PTPRF interacting) (TRIO), mRNA.	1535	PH 1.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|protein serine/threonine kinase activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					CTTTATAAAAGCAAATTGTTT	0.358000														88			7		0	0	1	0	0
GDPGP1	390637	broad.mit.edu	37	15	90785152	90785152	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:90785152C>T	uc002bpc.3	+	3	1191	c.1012C>T	c.(1012-1014)Cac>Tac	p.H338Y	GDPGP1_uc021suh.1_Missense_Mutation_p.H338Y	NM_001013657	NP_001013679	Q6ZNW5	VTC2_HUMAN	Homo sapiens chromosome 15 open reading frame 58 (C15orf58), mRNA.	338					glucose metabolic process	cytoplasm	GDP-D-glucose phosphorylase activity										GCTGGCTGGGCACCTCCCTGT	0.587000														24			21		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140784723	140784723	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140784723T>C	uc003lkh.2	+	0	2204	c.2204T>C	c.(2203-2205)gTg>gCg	p.V735A	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc011dax.2_Missense_Mutation_p.V735A	NM_018921	NP_061744	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 9 (PCDHGA9), transcript variant 1, mRNA.	736					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)			TTGGCTGGTGTGCCCACCTCA	0.572000														22			21		0	0	1	0	0
LENG8	114823	broad.mit.edu	37	19	54963829	54963829	+	Splice_Site	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:54963829G>A	uc002qfv.1	+	4	358	c.214_splice	c.e4-1	p.Y72_splice	LENG8_uc002qfw.2_Splice_Site_p.Y72_splice			Q96PV6	LENG8_HUMAN	Homo sapiens leukocyte receptor cluster (LRC) member 8 (LENG8), mRNA.	72							protein binding			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		TGCTTCCACAGTACGTGTCCC	0.562000														35			15		0	0	1	0	0
FREM1	158326	broad.mit.edu	37	9	14808009	14808009	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:14808009G>A	uc003zlm.3	-	17	3833	c.3017C>T	c.(3016-3018)gCg>gTg	p.A1006V	FREM1_uc010mic.3_Non-coding_Transcript	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.	1006					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TGGAAAGGACGCATGAAGTGG	0.453000														109			48		0	0	1	0	0
CYP4X1	260293	broad.mit.edu	37	1	47501745	47501745	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:47501745G>A	uc001cqt.3	+	5	927	c.677G>A	c.(676-678)cGc>cAc	p.R226H	CYP4X1_uc001cqr.3_Missense_Mutation_p.R225H|CYP4X1_uc001cqs.3_Missense_Mutation_p.R161H	NM_178033	NP_828847	Q8N118	CP4X1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily X, polypeptide 1 (CYP4X1), mRNA.	226						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						ATATTTCACCGCTTGTACAGT	0.393000														81			68		0	0	1	0	0
MIA3	375056	broad.mit.edu	37	1	222802500	222802500	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:222802500C>T	uc001hnl.3	+	3	1947	c.1938C>T	c.(1936-1938)gaC>gaT	p.D646D	MIA3_uc009xea.1_Silent_p.D482D	NM_198551	NP_940953	Q5JRA6	MIA3_HUMAN	Homo sapiens melanoma inhibitory activity family, member 3 (MIA3), mRNA.	646					exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		AACTGGAAGACGAGGTTCCCA	0.443000														88			71		0	0	1	0	0
GPR84	53831	broad.mit.edu	37	12	54756722	54756722	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:54756722C>A	uc021qyp.1	-	0	914	c.914G>T	c.(913-915)aGa>aTa	p.R305I	GPR84_uc001sfu.3_Missense_Mutation_p.R305I	NM_020370	NP_065103	Q9NQS5	GPR84_HUMAN	Homo sapiens G protein-coupled receptor 84 (GPR84), mRNA.	305						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(2)|kidney(2)|large_intestine(6)|lung(5)|skin(1)|urinary_tract(1)	18						CGGAGCTCTTCTGGCTCCTTT	0.507000														80			41		6.27289e-28	8.25138e-28	1	1	0
NINL	22981	broad.mit.edu	37	20	25507058	25507058	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:25507058C>T	uc002wux.1	-	1	240	c.166G>A	c.(166-168)Gac>Aac	p.D56N	NINL_uc010gdn.1_Missense_Mutation_p.D56N|NINL_uc010gdo.1_5'UTR|NINL_uc010ztf.1_Missense_Mutation_p.D72N	NM_025176	NP_079452	Q9Y2I6	NINL_HUMAN	Homo sapiens ninein-like (NINL), mRNA.	56	EF-hand 2.				G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						GCGAAATGGTCGTTTCCGAGA	0.527000														83			55		0	0	1	0	0
C15orf44	81556	broad.mit.edu	37	15	65871831	65871831	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:65871831G>A	uc010uix.2	-	11	1968	c.1580C>T	c.(1579-1581)aCc>aTc	p.T527I	C15orf44_uc002apd.3_Missense_Mutation_p.T491I|C15orf44_uc010uja.2_Missense_Mutation_p.T473I|C15orf44_uc010ujb.2_Missense_Mutation_p.T434I|C15orf44_uc002ape.4_Missense_Mutation_p.T491I|C15orf44_uc010uiy.2_Missense_Mutation_p.T412I|C15orf44_uc010uiz.2_Missense_Mutation_p.T455I			Q96SY0	CO044_HUMAN	Homo sapiens chromosome 15 open reading frame 44 (C15orf44), transcript variant 3, non-coding RNA.	491										breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|urinary_tract(2)	12						AGAGGTGCCGGTACTGGCCAG	0.542000														49			33		0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170103217	170103217	+	Missense_Mutation	SNP	A	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:170103217A>T	uc002ues.3	-	20	3401	c.3188T>A	c.(3187-3189)cTt>cAt	p.L1063H	LRP2_uc010zdf.1_Missense_Mutation_p.L926H	NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	1063					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CTACTTACTAAGTGTGCCACA	0.398000														122			83		0	0	1	0	0
DTX2P1-UPK3BP1-PMS2P11	441263	broad.mit.edu	37	7	76610233	76610233	+	RNA	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:76610233G>A	uc011kgn.1	+	0		c.95G>A			DTX2P1-UPK3BP1-PMS2P11_uc003ufw.4_Non-coding_Transcript					Homo sapiens DTX2P1-UPK3BP1-PMS2P11 readthrough (non-protein coding) (DTX2P1-UPK3BP1-PMS2P11), non-coding RNA.																		TCATCGCTCCGCCGGGCCACA	0.642000														13			24		0	0	1	0	0
NDRG4	65009	broad.mit.edu	37	16	58538058	58538058	+	Splice_Site	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:58538058A>G	uc002enm.3	+	5	625	c.284_splice	c.e5-1	p.H95_splice	NDRG4_uc002enk.3_Splice_Site_p.H75_splice|NDRG4_uc010vif.2_Splice_Site_p.H75_splice|NDRG4_uc002eno.3_Splice_Site_p.H43_splice|NDRG4_uc010cdk.3_Splice_Site_p.D61_splice|NDRG4_uc010vig.2_Splice_Site_p.H73_splice|NDRG4_uc010vih.2_Splice_Site|NDRG4_uc010vii.2_Splice_Site_p.H61_splice|NDRG4_uc002enp.3_Splice_Site_p.H43_splice|NDRG4_uc002enq.1_5'Flank	NM_001130487	NP_075061	Q9ULP0	NDRG4_HUMAN	Homo sapiens NDRG family member 4 (NDRG4), transcript variant 2, mRNA.	43					cell differentiation|cell growth|multicellular organismal development|response to stress	cytoplasm				breast(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11						GTCTTTGCAGACAAACTATGC	0.577000														141			18		0	0	1	0	0
ZKSCAN5	23660	broad.mit.edu	37	7	99123670	99123670	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:99123670C>A	uc003uqv.3	+	5	1131	c.1007C>A	c.(1006-1008)cCt>cAt	p.P336H	ZKSCAN5_uc010lfx.3_Missense_Mutation_p.P336H|ZKSCAN5_uc003uqw.3_Missense_Mutation_p.P336H|ZKSCAN5_uc003uqx.3_Missense_Mutation_p.P263H|ZKSCAN5_uc003uqy.3_Missense_Mutation_p.P72H	NM_145102	NP_659570	Q9Y2L8	ZKSC5_HUMAN	Homo sapiens zinc finger with KRAB and SCAN domains 5 (ZKSCAN5), transcript variant 2, mRNA.	336					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					GACATCAGCCCTAAGCAAAGC	0.507000														55			7		1.06961e-07	1.2399e-07	1	1	0
DRP2	1821	broad.mit.edu	37	X	100486730	100486730	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:100486730C>T	uc004egz.2	+	2	463	c.94C>T	c.(94-96)Cga>Tga	p.R32*	DRP2_uc011mrh.1_Intron	NM_001939	NP_001164655	Q13474	DRP2_HUMAN	Homo sapiens dystrophin related protein 2 (DRP2), transcript variant 1, mRNA.	32					central nervous system development	cytoplasm|cytoskeleton	zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						CAGCAGCCTCCGAAGCACCTG	0.542000														52			35		0	0	1	0	0
AHCTF1	25909	broad.mit.edu	37	1	247053278	247053278	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:247053278G>A	uc001ibv.2	-	16	2258	c.2161C>T	c.(2161-2163)Cgt>Tgt	p.R721C	AHCTF1_uc009xgs.1_5'UTR	NM_015446	NP_056261	Q8WYP5	ELYS_HUMAN	Homo sapiens AT hook containing transcription factor 1 (AHCTF1), mRNA.	712	Necessary for cytoplasmic localization (By similarity).				cytokinesis|mRNA transport|mitotic prometaphase|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			CTTGATAAACGCTCAAACTTC	0.338000														86			67		0	0	1	0	0
NFIL3	4783	broad.mit.edu	37	9	94172623	94172623	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:94172623T>C	uc022bjt.1	-	0	394	c.394A>G	c.(394-396)Aca>Gca	p.T132A	NFIL3_uc004arh.3_Missense_Mutation_p.T132A	NM_005384	NP_005375	Q16649	NFIL3_HUMAN	Homo sapiens nuclear factor, interleukin 3 regulated (NFIL3), mRNA.	132					circadian rhythm|immune response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	16						GCATATGCTGTGGAGCTAATT	0.378000														58			45		0	0	1	0	0
ZNF300	91975	broad.mit.edu	37	5	150276343	150276343	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:150276343C>T	uc021yfx.1	-	6	934	c.506G>A	c.(505-507)aGc>aAc	p.S169N	ZNF300_uc021yfy.1_Missense_Mutation_p.S153N|ZNF300_uc021yfz.1_Missense_Mutation_p.S117N	NM_001172831	NP_001166303	Q96RE9	ZN300_HUMAN	Homo sapiens zinc finger protein 300 (ZNF300), transcript variant 1, mRNA.	153					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CACTGTTTTGCTGTTAACAAA	0.378000														91			37		0	0	1	0	0
CCDC13	152206	broad.mit.edu	37	3	42772013	42772013	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:42772013G>T	uc003cly.4	-	12	1748	c.1664C>A	c.(1663-1665)gCt>gAt	p.A555D		NM_144719	NP_653320	Q8IYE1	CCD13_HUMAN	Homo sapiens coiled-coil domain containing 13 (CCDC13), mRNA.	555										endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						CACCTCGGCAGCCTGCCAGAG	0.607000														39			4		0.00024832	0.000267289	1	1	0
TRPM8	79054	broad.mit.edu	37	2	234878920	234878920	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:234878920C>T	uc002vvh.3	+	16	2245	c.2205C>T	c.(2203-2205)ttC>ttT	p.F735F	TRPM8_uc010fyj.3_Intron	NM_024080	NP_076985	Q7Z2W7	TRPM8_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 8 (TRPM8), mRNA.	735						integral to membrane				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	CCTCCCCCTTCGTGGTCTTCT	0.547000														149			125		0	0	1	0	0
ABCC3	8714	broad.mit.edu	37	17	48753805	48753805	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:48753805C>T	uc002isl.3	+	22	3314	c.3234C>T	c.(3232-3234)gtC>gtT	p.V1078V	ABCC3_uc002isn.3_5'Flank	NM_003786	NP_003777	O15438	MRP3_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 3 (ABCC3), transcript variant 1, mRNA.	1078	ABC transmembrane type-1 2.				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	ACATCTATGTCGTTGATGAGG	0.537000														123			68		0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168201248	168201248	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:168201248G>A	uc010jjg.3	-	12	1707	c.1287C>T	c.(1285-1287)atC>atT	p.I429I	SLIT3_uc003mab.3_Silent_p.I429I|SLIT3_uc010jji.2_Silent_p.I429I|SLIT3_uc003mac.1_Silent_p.I226I	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	429					Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus	extracellular space|mitochondrion	Roundabout binding|calcium ion binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACAGTGTCTGGATGGACTGCA	0.557000														111			46		0	0	1	0	0
ATF5	22809	broad.mit.edu	37	19	50436081	50436081	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:50436081C>A	uc010enq.2	+	3	1163	c.581C>A	c.(580-582)cCt>cAt	p.P194H	ATF5_uc002prd.3_Missense_Mutation_p.P194H|ATF5_uc021uyb.1_5'Flank	NM_012068	NP_036200	Q9Y2D1	ATF5_HUMAN	Homo sapiens activating transcription factor 5 (ATF5), transcript variant 1, mRNA.	194	Interaction with PTP4A1 (By similarity).|Poly-Pro.				regulation of transcription from RNA polymerase II promoter	cytoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			NS(1)|endometrium(2)|large_intestine(1)|skin(3)	7		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00221)|OV - Ovarian serous cystadenocarcinoma(262;0.017)		CCACCTCAACCTTCTCGCCTG	0.657000														2			4		0.000602214	0.000641151	1	1	0
SERAC1	84947	broad.mit.edu	37	6	158569913	158569913	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:158569913C>T	uc003qrc.2	-	4	481	c.339G>A	c.(337-339)ctG>ctA	p.L113L	SERAC1_uc003qrb.2_5'UTR	NM_032861	NP_116250	Q96JX3	SRAC1_HUMAN	Homo sapiens serine active site containing 1 (SERAC1), mRNA.	113					GPI anchor metabolic process|intracellular protein transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	binding|hydrolase activity, acting on ester bonds	p.L113P(1)		endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	15		Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)		OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)		ATGGATTCCGCAGTATCTTGG	0.338000														30			9		0	0	1	0	0
CREBBP	1387	broad.mit.edu	37	16	3843551	3843551	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:3843551C>T	uc002cvv.3	-	3	1256	c.1052G>A	c.(1051-1053)cGc>cAc	p.R351H	CREBBP_uc002cvw.3_Missense_Mutation_p.R351H	NM_004380	NP_004371	Q92793	CBP_HUMAN	Homo sapiens CREB binding protein (CREBBP), transcript variant 1, mRNA.	351	Interaction with SRCAP.				N-terminal peptidyl-lysine acetylation|cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	MyoD binding|histone acetyltransferase activity|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)		TATCAGTTTGCGTTTTTCAGG	0.468000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome							37			29		0	0	1	0	0
CCDC101	112869	broad.mit.edu	37	16	28596240	28596240	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:28596240C>T	uc002dqf.3	+	2	267	c.82C>T	c.(82-84)Cgt>Tgt	p.R28C	NPIPL1_uc010vct.2_Intron	NM_138414	NP_612423	Q96ES7	SGF29_HUMAN	Homo sapiens coiled-coil domain containing 101 (CCDC101), mRNA.	28					establishment of protein localization to chromatin|histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ada2/Gcn5/Ada3 transcription activator complex|SAGA-type complex	methylated histone residue binding			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	10						ACAGGAAGAGCGTTCGCGGAG	0.557000														32			15		0	0	1	0	0
CLNK	116449	broad.mit.edu	37	4	10566361	10566361	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:10566361C>T	uc003gmo.4	-	6	470	c.333G>A	c.(331-333)ccG>ccA	p.P111P	CLNK_uc003gmp.3_Silent_p.P69P	NM_052964	NP_443196	Q7Z7G1	CLNK_HUMAN	Homo sapiens cytokine-dependent hematopoietic cell linker (CLNK), mRNA.	111					immune response|intracellular signal transduction	intracellular	SH3/SH2 adaptor activity			NS(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)	17						TGGTGTCTAACGGAAGGGGAG	0.433000														23			15		0	0	1	0	0
CCDC24	149473	broad.mit.edu	37	1	44458013	44458013	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:44458013C>T	uc001clj.3	+	2	427	c.256C>T	c.(256-258)Cgg>Tgg	p.R86W	SLC6A9_uc009vxe.2_Intron|SLC6A9_uc010okm.1_Intron|CCDC24_uc009vxc.3_Missense_Mutation_p.R50W	NM_152499	NP_689712	Q8N4L8	CCD24_HUMAN	Homo sapiens coiled-coil domain containing 24 (CCDC24), mRNA.	86										endometrium(3)|large_intestine(2)|lung(3)|stomach(1)	9	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				CCAGGAGCTCCGGCAGTTGCT	0.647000														60			36		0	0	1	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18776887	18776887	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:18776887C>T	uc003zne.4	+	18	2812	c.2660C>T	c.(2659-2661)gCc>gTc	p.A887V		NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN	Homo sapiens ADAMTS-like 1 (ADAMTSL1), transcript variant 4, mRNA.	887	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)		GGGGGCTTCGCCTACCTGCTC	0.677000														12			6		0	0	1	0	0
ANKRD40	91369	broad.mit.edu	37	17	48777955	48777955	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:48777955C>A	uc002iso.3	-	1	512	c.257G>T	c.(256-258)aGg>aTg	p.R86M		NM_052855	NP_443087	Q6AI12	ANR40_HUMAN	Homo sapiens ankyrin repeat domain 40 (ANKRD40), mRNA.	86										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)|urinary_tract(1)	11			BRCA - Breast invasive adenocarcinoma(22;2.03e-09)			GATTTCTCTCCTTGATGTTAA	0.413000														87			29		4.15321e-07	4.76399e-07	1	1	0
PRMT2	3275	broad.mit.edu	37	21	48068466	48068466	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:48068466C>A	uc002zjx.3	+	5	758	c.424C>A	c.(424-426)Ctg>Atg	p.L142M	PRMT2_uc021wkc.1_Missense_Mutation_p.L142M|PRMT2_uc002zjw.3_Missense_Mutation_p.L142M|PRMT2_uc002zjy.3_Missense_Mutation_p.L142M|PRMT2_uc010gqm.3_Missense_Mutation_p.L142M|PRMT2_uc011aga.2_Missense_Mutation_p.L142M|PRMT2_uc011agb.2_Missense_Mutation_p.L142M|PRMT2_uc011agc.2_Missense_Mutation_p.L142M|PRMT2_uc002zjz.1_Missense_Mutation_p.L28M	NM_206962	NP_996845	P55345	ANM2_HUMAN	Homo sapiens protein arginine methyltransferase 2 (PRMT2), transcript variant 1, mRNA.	142	Interaction with ESR1.|Interaction with RB1 (By similarity).				developmental cell growth|induction of apoptosis|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of androgen receptor signaling pathway	cytosol|nucleus	androgen receptor binding|estrogen receptor binding|histone-arginine N-methyltransferase activity|peroxisome proliferator activated receptor binding|progesterone receptor binding|protein homodimerization activity|retinoic acid receptor binding|signal transducer activity|thyroid hormone receptor binding|transcription coactivator activity			NS(1)|breast(3)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	Breast(49;0.247)	Lung NSC(3;0.245)		Epithelial(3;1.03e-07)|OV - Ovarian serous cystadenocarcinoma(3;4.68e-07)|all cancers(3;7.48e-07)|Colorectal(79;0.167)|Lung(125;0.203)|LUSC - Lung squamous cell carcinoma(216;0.23)|READ - Rectum adenocarcinoma(84;0.248)		TAAAGTCATCCTGGACGTGGG	0.537000														108			8		0.0477658	0.0485825	1	1	0
CDC42EP4	23580	broad.mit.edu	37	17	71282025	71282025	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:71282025G>A	uc002jjn.3	-	1	762	c.615C>T	c.(613-615)tcC>tcT	p.S205S	CDC42EP4_uc002jjo.3_Silent_p.S205S|CDC42EP4_uc002jjp.1_Silent_p.S135S|CDC42EP4_uc021ucn.1_Silent_p.S205S	NM_012121	NP_036253	Q9H3Q1	BORG4_HUMAN	Homo sapiens CDC42 effector protein (Rho GTPase binding) 4 (CDC42EP4), mRNA.	205					positive regulation of pseudopodium assembly|regulation of cell shape	actin cytoskeleton|cytoplasm|endomembrane system|membrane|microtubule cytoskeleton	GTP-Rho binding			cervix(2)|endometrium(3)|large_intestine(1)|lung(7)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711)			AGGACATGATGGACTCCGCAT	0.622000														32			34		0	0	1	0	0
NOTCH1	4851	broad.mit.edu	37	9	139391863	139391863	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:139391863C>T	uc004chz.3	-	33	6328	c.6328G>A	c.(6328-6330)Gtg>Atg	p.V2110M		NM_017617	NP_060087	P46531	NOTC1_HUMAN	Homo sapiens notch 1 (NOTCH1), mRNA.	2110					Notch receptor processing|aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		AGCAGCCTCACGATGTCGTGA	0.677000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)				40			8		0	0	1	0	0
LUZP1	7798	broad.mit.edu	37	1	23420599	23420599	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:23420599A>G	uc001bgk.2	-	3	706	c.156T>C	c.(154-156)atT>atC	p.I52I	LUZP1_uc010odv.1_Silent_p.I52I|LUZP1_uc001bgl.3_Silent_p.I52I|LUZP1_uc001bgm.1_Silent_p.I52I	NM_033631	NP_361013	Q86V48	LUZP1_HUMAN	Homo sapiens leucine zipper protein 1 (LUZP1), transcript variant 1, mRNA.	52						nucleus				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		CTTCTGCCTGAATCACCTTGT	0.517000														111			11		0	0	1	0	0
KIF26A	26153	broad.mit.edu	37	14	104639572	104639572	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:104639572C>T	uc001yos.4	+	7	1679	c.1679C>T	c.(1678-1680)gCg>gTg	p.A560V		NM_015656	NP_056471	Q9ULI4	KI26A_HUMAN	Homo sapiens kinesin family member 26A (KIF26A), mRNA.	560	Kinesin-motor.				blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		GTGTGTGGGGCGCAGGTGCGC	0.701000														27			7		0	0	1	0	0
DDX26B	203522	broad.mit.edu	37	X	134711350	134711350	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:134711350C>T	uc004eyw.4	+	13	2369	c.2006C>T	c.(2005-2007)aCa>aTa	p.T669I	DDX26B_uc004eyx.4_Missense_Mutation_p.T270I	NM_182540	NP_872346	Q5JSJ4	DX26B_HUMAN	Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B (DDX26B), mRNA.	669										large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					CTTGTACATACAGGTATAGAG	0.443000														55			9		0	0	1	0	0
BCL6B	255877	broad.mit.edu	37	17	6929875	6929875	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:6929875G>A	uc010clt.1	+	5	1051	c.989G>A	c.(988-990)tGt>tAt	p.C330Y	BCL6B_uc002geg.2_Missense_Mutation_p.C330Y	NM_181844	NP_862827	Q8N143	BCL6B_HUMAN	Homo sapiens B-cell CLL/lymphoma 6, member B (BCL6B), mRNA.	330						nucleus	zinc ion binding			skin(1)	1						CCCTATAAGTGTCAGCTGTGC	0.572000														60			49		0	0	1	0	0
PDE1C	5137	broad.mit.edu	37	7	32209452	32209452	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:32209452C>T	uc003tco.2	-	2	289	c.253G>A	c.(253-255)Gct>Act	p.A85T		NM_001191058	NP_001177987	Q14123	PDE1C_HUMAN	Homo sapiens phosphodiesterase 1C, calmodulin-dependent 70kDa (PDE1C), transcript variant 3, mRNA.	0					activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			AATTCATCAGCTAGGATCTCC	0.498000														64			20		0	0	1	0	0
ABCA6	23460	broad.mit.edu	37	17	67124790	67124790	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:67124790G>A	uc002jhw.1	-	7	1264	c.1089C>T	c.(1087-1089)agC>agT	p.S363S		NM_080284	NP_525023	Q8N139	ABCA6_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 6 (ABCA6), mRNA.	363					transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					AGGCAAAAGGGCTACAAATAT	0.373000														47			25		0	0	1	0	0
ZNF573	126231	broad.mit.edu	37	19	38230584	38230584	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:38230584A>G	uc002ohe.3	-	4	876	c.807T>C	c.(805-807)acT>acC	p.T269T	ZNF573_uc010efs.2_Silent_p.T182T|ZNF573_uc002ohd.3_Silent_p.T267T|ZNF573_uc002ohf.3_Silent_p.T211T|ZNF573_uc002ohg.3_Silent_p.T181T|ZNF573_uc021utv.1_Silent_p.T181T	NM_001172690	NP_001166161	Q86YE8	ZN573_HUMAN	Homo sapiens zinc finger protein 573 (ZNF573), transcript variant 3, mRNA.	249					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146)			GTTTTTCGCCAGTATGAACTC	0.428000														116			15		0	0	1	0	0
BIN3	55909	broad.mit.edu	37	8	22481832	22481832	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:22481832C>T	uc003xcl.3	-	6	480	c.383G>A	c.(382-384)cGg>cAg	p.R128Q	BIN3_uc010ltw.3_Missense_Mutation_p.R74Q	NM_018688	NP_061158	Q9NQY0	BIN3_HUMAN	Homo sapiens bridging integrator 3 (BIN3), mRNA.	128	BAR.				actin filament organization|barrier septum formation|cell cycle|protein localization|unidimensional cell growth	cytoplasm|cytoskeleton	cytoskeletal adaptor activity			kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	9		Prostate(55;0.0424)|Breast(100;0.102)|all_epithelial(46;0.143)		BRCA - Breast invasive adenocarcinoma(99;0.00664)|Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727)		GGCCTGTTCCCGCCTCTTCAC	0.607000														33			9		0	0	1	0	0
GRM3	2913	broad.mit.edu	37	7	86394888	86394888	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:86394888G>A	uc003uid.3	+	1	1526	c.427G>A	c.(427-429)Gca>Aca	p.A143T	GRM3_uc010lef.3_Missense_Mutation_p.A141T|GRM3_uc010leg.3_Intron|GRM3_uc010leh.3_Intron	NM_000840	NP_000831	Q14832	GRM3_HUMAN	Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.	143					synaptic transmission	integral to plasma membrane		p.A143E(1)		NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	ACTTCTCATTGCAGGGGTCAT	0.428000														110			8		0	0	1	0	0
TNR	7143	broad.mit.edu	37	1	175372720	175372720	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:175372720G>T	uc001gkp.1	-	1	613	c.532C>A	c.(532-534)Cac>Aac	p.H178N	TNR_uc009wwu.1_Missense_Mutation_p.H178N|TNR_uc010pmz.1_Missense_Mutation_p.H178N	NM_003285	NP_003276	Q92752	TENR_HUMAN	Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA.	178	Cys-rich.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					AAGTTGCCGTGGCCACTGCAG	0.562000														80			48		1.72184e-34	2.28044e-34	1	1	0
RNF144A	9781	broad.mit.edu	37	2	7170284	7170284	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:7170284A>G	uc002qys.3	+	7	1127	c.685A>G	c.(685-687)Aag>Gag	p.K229E		NM_014746	NP_055561	P50876	R144A_HUMAN	Homo sapiens ring finger protein 144A (RNF144A), mRNA.	229						Golgi apparatus|integral to membrane	ligase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)	25	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;0.226)		OV - Ovarian serous cystadenocarcinoma(76;0.195)		ACACTACGATAAGGGACCCTG	0.542000														40			28		0	0	1	0	0
TTK	7272	broad.mit.edu	37	6	80744846	80744846	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:80744846C>T	uc003pjc.3	+	14	1870	c.1759C>T	c.(1759-1761)Cga>Tga	p.R587*	TTK_uc003pjb.4_Nonsense_Mutation_p.R586*	NM_003318	NP_003309	P33981	TTK_HUMAN	Homo sapiens TTK protein kinase (TTK), transcript variant 1, mRNA.	587	Protein kinase.				mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		TAAGATCATCCGACTTTATGA	0.279000														47			28		0	0	1	0	0
SAR1A	56681	broad.mit.edu	37	10	71913627	71913627	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:71913627C>A	uc010qjh.2	-	6	650	c.447G>T	c.(445-447)gaG>gaT	p.E149D	SAR1A_uc010qji.2_Missense_Mutation_p.E149D|SAR1A_uc010qjj.2_Missense_Mutation_p.E106D	NM_001142648	NP_064535	Q9NR31	SAR1A_HUMAN	Homo sapiens SAR1 homolog A (S. cerevisiae) (SAR1A), transcript variant 1, mRNA.	149					ER to Golgi vesicle-mediated transport|intracellular protein transport	Golgi apparatus	GTP binding|GTPase activity			NS(1)|endometrium(1)|large_intestine(1)|lung(3)	6						GCCCAAATATCTCACGGAGTT	0.348000														223			18		1.67942e-08	1.97205e-08	1	1	0
SDK2	54549	broad.mit.edu	37	17	71415339	71415339	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:71415339G>A	uc010dfm.3	-	15	2152	c.2152C>T	c.(2152-2154)Cac>Tac	p.H718Y	SDK2_uc010dfn.2_Missense_Mutation_p.H397Y	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN	Homo sapiens sidekick cell adhesion molecule 2 (SDK2), mRNA.	718	Fibronectin type-III 2.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						CCATTCTGGTGGCTCTCAGGA	0.622000														9			8		0	0	1	0	0
LAMA4	3910	broad.mit.edu	37	6	112499372	112499372	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:112499372G>A	uc003pvu.2	-	9	1449	c.1140C>T	c.(1138-1140)caC>caT	p.H380H	LAMA4_uc003pvv.2_Silent_p.H373H|LAMA4_uc003pvt.2_Silent_p.H373H	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN	Homo sapiens laminin, alpha 4 (LAMA4), transcript variant 1, mRNA.	380	Domain II and I.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		GCTGACTTGCGTGGTTAATGG	0.373000														53			28		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179478634	179478634	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179478634G>T	uc021vsy.1	-	211	41897	c.41672C>A	c.(41671-41673)cCt>cAt	p.P13891H	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.P7586H|TTN_uc021vta.1_Missense_Mutation_p.P7519H|TTN_uc021vtb.1_Missense_Mutation_p.P7394H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	14818							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)			GATATCAGAAGGTTCTAGGCG	0.433000														73			43		1.61004e-24	2.1024e-24	1	1	0
MEF2A	4205	broad.mit.edu	37	15	100185844	100185844	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:100185844C>T	uc010urw.2	+	2	492	c.133C>T	c.(133-135)Ctc>Ttc	p.L45F	MEF2A_uc002bve.3_Missense_Mutation_p.L45F|MEF2A_uc002bvg.3_Missense_Mutation_p.L45F|MEF2A_uc010urv.2_Intron|MEF2A_uc010bos.3_Missense_Mutation_p.L45F|MEF2A_uc002bvf.3_Missense_Mutation_p.L45F|MEF2A_uc002bvi.3_Missense_Mutation_p.L45F|MEF2A_uc010bot.3_Intron	NM_005587	NP_005578	Q02078	MEF2A_HUMAN	Homo sapiens myocyte enhancer factor 2A (MEF2A), transcript variant 1, mRNA.	45	MADS-box.				BMK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|apoptosis|cardiac conduction|cellular response to calcium ion|dendrite morphogenesis|innate immune response|mitochondrial genome maintenance|mitochondrion distribution|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|ventricular cardiac myofibril development	nuclear chromatin|nucleoplasm	RNA polymerase II regulatory region sequence-specific DNA binding|SMAD binding|activating transcription factor binding|histone acetyltransferase binding|histone deacetylase binding|protein heterodimerization activity|sequence-specific DNA binding RNA polymerase II transcription factor activity			endometrium(2)|large_intestine(2)|lung(7)|ovary(1)	12	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00085)			TGAAATAGCACTCATCATTTT	0.328000														53			23		0	0	1	0	0
EI24	9538	broad.mit.edu	37	11	125448918	125448918	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:125448918C>T	uc009zbl.3	+	6	757	c.515C>T	c.(514-516)gCt>gTt	p.A172V	EI24_uc001qca.3_Missense_Mutation_p.A172V|EI24_uc001qcb.3_Missense_Mutation_p.A172V|EI24_uc010sbd.2_Non-coding_Transcript|EI24_uc010sbe.2_Missense_Mutation_p.A158V|EI24_uc010sbf.2_Non-coding_Transcript	NM_004879	NP_004870	O14681	EI24_HUMAN	Homo sapiens etoposide induced 2.4 mRNA (EI24), transcript variant 1, mRNA.	172					apoptosis|autophagy|induction of apoptosis|negative regulation of cell growth	endoplasmic reticulum membrane|integral to membrane|nuclear membrane				large_intestine(1)|lung(9)|ovary(1)	11	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.64e-07)|OV - Ovarian serous cystadenocarcinoma(99;0.0975)		AAAATAATTGCTGACATGCTC	0.433000														1			2		0	0	1	0	0
SLC34A1	6569	broad.mit.edu	37	5	176824065	176824065	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:176824065G>A	uc003mgk.4	+	11	1510	c.1406G>A	c.(1405-1407)aGc>aAc	p.S469N		NM_003052	NP_003043	Q06495	NPT2A_HUMAN	Homo sapiens solute carrier family 34 (sodium phosphate), member 1 (SLC34A1), transcript variant 1, mRNA.	469					phosphate ion homeostasis|response to cadmium ion|response to lead ion|response to mercury ion|sodium ion transport	brush border membrane|integral to plasma membrane	protein binding|sodium-dependent phosphate transmembrane transporter activity|symporter activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AAGCTGTCCAGCGCTTTCCAG	0.627000														15			9		0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10914407	10914407	+	Nonsense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:10914407C>A	uc002yip.1	-	20	1680	c.1312G>T	c.(1312-1314)Gag>Tag	p.E438*	TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Nonsense_Mutation_p.E420*|TPTE_uc002yir.1_Nonsense_Mutation_p.E400*|TPTE_uc010gkv.1_Nonsense_Mutation_p.E300*	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	438	C2 tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.N438K(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ACCTTTTTCTCCATTTCTATT	0.323000														40			6		0.0215528	0.0220531	1	1	0
C3orf25	90288	broad.mit.edu	37	3	129120571	129120571	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:129120571C>T	uc003emg.3	-	8	1747	c.1584G>A	c.(1582-1584)gcG>gcA	p.A528A	RPL32P3_uc003ema.3_5'Flank|RPL32P3_uc003emb.3_5'Flank|RPL32P3_uc003emd.1_5'Flank	NM_207307	NP_997190			Homo sapiens chromosome 3 open reading frame 25 (C3orf25), mRNA.											breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|prostate(2)	23						AACTGAAGAGCGCCAGGCTCC	0.587000														3			3		0	0	1	0	0
ZNF354A	6940	broad.mit.edu	37	5	178139101	178139101	+	Missense_Mutation	SNP	A	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:178139101A>T	uc003mjj.3	-	4	1976	c.1778T>A	c.(1777-1779)cTt>cAt	p.L593H		NM_005649	NP_005640	O60765	Z354A_HUMAN	Homo sapiens zinc finger protein 354A (ZNF354A), mRNA.	593					regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(7)|lung(3)|ovary(2)|skin(2)|stomach(2)	19	all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536)	all_cancers(40;0.0452)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.185)		ATGATTAGTAAGGGATGACCT	0.368000														79			6		0	0	1	0	0
ZFYVE26	23503	broad.mit.edu	37	14	68251862	68251862	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:68251862C>A	uc001xka.2	-	18	3576	c.3437G>T	c.(3436-3438)aGc>aTc	p.S1146I	ZFYVE26_uc010tsz.1_Non-coding_Transcript|ZFYVE26_uc001xkc.4_Missense_Mutation_p.S1146I	NM_015346	NP_056161	Q68DK2	ZFY26_HUMAN	Homo sapiens zinc finger, FYVE domain containing 26 (ZFYVE26), mRNA.	1146					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		CATCTGCCTGCTGCCTGATGG	0.562000														97			12		0.000978159	0.00103832	1	1	0
RND1	27289	broad.mit.edu	37	12	49251978	49251978	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:49251978C>T	uc001rsn.3	-	4	603	c.500G>A	c.(499-501)gGc>gAc	p.G167D		NM_014470	NP_055285	Q92730	RND1_HUMAN	Homo sapiens Rho family GTPase 1 (RND1), mRNA.	167					actin filament organization|axon guidance|negative regulation of cell adhesion|neuron remodeling|small GTPase mediated signal transduction	adherens junction|cytoskeleton|cytosol	GTP binding|GTPase activity|receptor binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(2)|skin(1)|urinary_tract(1)	10						GAAAGCTGAGCCTTCCAGGTA	0.557000														37			14		0	0	1	0	0
FAM111A	63901	broad.mit.edu	37	11	58920195	58920195	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:58920195C>T	uc010rkp.2	+	4	1281	c.1054C>T	c.(1054-1056)Cgt>Tgt	p.R352C	FAM111A_uc010rkq.2_Missense_Mutation_p.R352C|FAM111A_uc010rkr.2_Missense_Mutation_p.R352C|FAM111A_uc001nno.3_Missense_Mutation_p.R352C|FAM111A_uc001nnp.3_Missense_Mutation_p.R352C|FAM111A_uc001nnq.3_Missense_Mutation_p.R352C	NM_001142521	NP_942144	Q96PZ2	F111A_HUMAN	Homo sapiens family with sequence similarity 111, member A (FAM111A), transcript variant 5, mRNA.	352					proteolysis		serine-type endopeptidase activity	p.R352H(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_epithelial(135;0.139)				ACTTCTTGTACGTCTCAGTGA	0.368000														72			45		0	0	1	0	0
DKFZP586I1420	222161	broad.mit.edu	37	7	30412316	30412316	+	RNA	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:30412316G>T	uc003tau.3	+	0		c.2651G>T								Homo sapiens uncharacterized protein DKFZp586I1420 (DKFZP586I1420), non-coding RNA.																		TCATGCCAAAGGACAGTGAGG	0.448000														2			4		2.56e-06	2.88678e-06	1	1	0
SCN3A	6328	broad.mit.edu	37	2	165986519	165986519	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:165986519A>G	uc002ucx.3	-	16	3345	c.2853T>C	c.(2851-2853)tgT>tgC	p.C951C	SCN3A_uc002ucy.3_Silent_p.C902C|SCN3A_uc002ucz.3_Silent_p.C902C|SCN3A_uc002uda.1_Silent_p.C771C|SCN3A_uc002udb.1_Silent_p.C771C	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	Homo sapiens sodium channel, voltage-gated, type III, alpha subunit (SCN3A), transcript variant 1, mRNA.	951						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	CGACCTCCATACAGTCCCACA	0.473000														87			54		0	0	1	0	0
SLC3A2	6520	broad.mit.edu	37	11	62655901	62655901	+	Silent	SNP	G	A	A	rs138892942		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:62655901G>A	uc001nwd.3	+	11	1887	c.1629G>A	c.(1627-1629)gcG>gcA	p.A543A	SLC3A2_uc001nwc.3_Silent_p.A544A|SLC3A2_uc001nwf.3_Silent_p.A481A|SLC3A2_uc001nwg.3_Silent_p.A442A	NM_002394	NP_001013269	P08195	4F2_HUMAN	Homo sapiens solute carrier family 3 (activators of dibasic and neutral amino acid transport), member 2 (SLC3A2), transcript variant 3, mRNA.	543					blood coagulation|carbohydrate metabolic process|cell growth|cellular nitrogen compound metabolic process|leucine import|leukocyte migration|tryptophan transport	apical plasma membrane|cell surface|integral to membrane|melanosome	calcium:sodium antiporter activity|catalytic activity|cation binding|neutral amino acid transmembrane transporter activity|protein binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)	22						ACTTCCACGCGTTCTCCGCTG	0.597000														109			14		0	0	1	0	0
NPAS2	4862	broad.mit.edu	37	2	101591354	101591354	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:101591354G>A	uc010yvt.1	+	12	1427	c.1425G>A	c.(1423-1425)gcG>gcA	p.A475A	NPAS2_uc002tap.1_Silent_p.A410A|NPAS2_uc010fit.1_5'UTR	NM_002518	NP_002509	Q99743	NPAS2_HUMAN	Homo sapiens neuronal PAS domain protein 2 (NPAS2), mRNA.	410					central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process	transcription factor complex	DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CGCCATCGGCGTCCTCAAGAA	0.562000														29			16		0	0	1	0	0
GAN	8139	broad.mit.edu	37	16	81388172	81388172	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:81388172G>A	uc002fgo.3	+	2	593	c.445G>A	c.(445-447)Gtt>Att	p.V149I		NM_022041	NP_071324	Q9H2C0	GAN_HUMAN	Homo sapiens gigaxonin (GAN), mRNA.	149	BACK.				cell death	cytoplasm|neurofilament	protein binding	p.H148R(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)	25		Colorectal(91;0.153)				CCTCCATCACGTTCATTACCT	0.458000														124			34		0	0	1	0	0
DFNB59	494513	broad.mit.edu	37	2	179325155	179325155	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179325155A>G	uc002umi.4	+	5	1104	c.748A>G	c.(748-750)Aat>Gat	p.N250D	MIR548N_uc021vsx.1_Intron|DFNB59_uc002umj.4_Missense_Mutation_p.N250D	NM_001042702	NP_001036167	Q0ZLH3	PJVK_HUMAN	Homo sapiens deafness, autosomal recessive 59 (DFNB59), mRNA.	250					sensory perception of sound					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)			CAGGTTGAGAAATATCCTATT	0.343000														50			7		0	0	1	0	0
ZNF18	7566	broad.mit.edu	37	17	11887482	11887482	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:11887482C>A	uc002gng.1	-	6	1304	c.699G>T	c.(697-699)aaG>aaT	p.K233N	ZNF18_uc002gnh.1_Missense_Mutation_p.K233N|ZNF18_uc002gni.1_Missense_Mutation_p.K233N	NM_144680	NP_653281	P17022	ZNF18_HUMAN	Homo sapiens zinc finger protein 18 (ZNF18), mRNA.	233	KRAB.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	14				Colorectal(4;3.33e-05)|COAD - Colon adenocarcinoma(4;0.000494)|READ - Rectum adenocarcinoma(10;0.233)		AGTATTGCTCCTTTTGAGTGG	0.448000														15			10		2.17888e-05	2.40634e-05	1	1	0
COG7	91949	broad.mit.edu	37	16	23400310	23400310	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:23400310T>C	uc002dlo.3	-	16	2441	c.2244A>G	c.(2242-2244)agA>agG	p.R748R		NM_153603	NP_705831	P83436	COG7_HUMAN	Homo sapiens component of oligomeric golgi complex 7 (COG7), mRNA.	748					intracellular protein transport|protein glycosylation|protein localization in Golgi apparatus|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.0401)		TGCTGACCTGTCTATAGTCCT	0.617000														49			18		0	0	1	0	0
C11orf16	56673	broad.mit.edu	37	11	8942885	8942885	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:8942885T>C	uc001mhb.4	-	5	1506	c.1382A>G	c.(1381-1383)cAg>cGg	p.Q461R	C11orf16_uc001mhc.4_Intron	NM_020643	NP_065694	Q9NQ32	CK016_HUMAN	Homo sapiens chromosome 11 open reading frame 16 (C11orf16), mRNA.	461										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	22				Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234)		CTTGTTCCACTGACATATTGC	0.532000														57			43		0	0	1	0	0
APOBEC2	10930	broad.mit.edu	37	6	41029259	41029259	+	Silent	SNP	G	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:41029259G>C	uc003opl.3	+	1	471	c.324G>C	c.(322-324)ctG>ctC	p.L108L	UNC5CL_uc010jxe.1_Intron|APOBEC2_uc010jxf.3_Non-coding_Transcript	NM_006789	NP_006780	Q9Y235	ABEC2_HUMAN	Homo sapiens apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 2 (APOBEC2), mRNA.	108					DNA demethylation|mRNA processing		RNA binding|cytidine deaminase activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)|skin(1)	10	Ovarian(28;0.0418)|Colorectal(47;0.196)					ACACCATCCTGCCAGCCTTCG	0.577000														71			44		0	0	1	0	0
SETD3	84193	broad.mit.edu	37	14	99879293	99879293	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:99879293C>T	uc001ygc.3	-	7	1014	c.844G>A	c.(844-846)Ggc>Agc	p.G282S	SETD3_uc001ygd.3_Missense_Mutation_p.G282S|SETD3_uc021sbn.1_Missense_Mutation_p.G282S|SETD3_uc001ygf.3_Missense_Mutation_p.G282S	NM_032233	NP_115609	Q86TU7	SETD3_HUMAN	Homo sapiens SET domain containing 3 (SETD3), transcript variant 1, mRNA.	282	SET.				peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|peptidyl-lysine trimethylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone methyltransferase activity (H3-K36 specific)|transcription coactivator activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25		all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866)				GTTACCAGGCCGTTGGTGTGG	0.517000														42			24		0	0	1	0	0
MYT1L	23040	broad.mit.edu	37	2	1982978	1982978	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:1982978G>A	uc002qxe.3	-	7	938	c.111C>T	c.(109-111)gaC>gaT	p.D37D	MYT1L_uc002qxd.3_Silent_p.D37D	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	Homo sapiens myelin transcription factor 1-like (MYT1L), mRNA.	37					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		GACCACTGCCGTCACAGCCAG	0.517000														5			5		0	0	1	0	0
RAD54L2	23132	broad.mit.edu	37	3	51697257	51697257	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:51697257C>A	uc011bdt.2	+	21	4350	c.4225C>A	c.(4225-4227)Ctt>Att	p.L1409I	RAD54L2_uc003dbh.3_Missense_Mutation_p.L998I|RAD54L2_uc011bdu.2_Missense_Mutation_p.L1103I|RAD54L2_uc003dbj.3_Missense_Mutation_p.L735I	NM_015106	NP_055921	Q9Y4B4	ARIP4_HUMAN	Homo sapiens RAD54-like 2 (S. cerevisiae) (RAD54L2), mRNA.	1409						nucleus	ATP binding|DNA binding|helicase activity			NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		GCCCAGCAACCTTTCGCGGGG	0.577000														72			7		5.18039e-06	5.80246e-06	1	1	0
MYOM2	9172	broad.mit.edu	37	8	2007344	2007344	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:2007344G>A	uc003wpx.4	+	5	769	c.631G>A	c.(631-633)Gta>Ata	p.V211I	MYOM2_uc011kwi.2_Intron	NM_003970	NP_003961	P54296	MYOM2_HUMAN	Homo sapiens myomesin (M-protein) 2, 165kDa (MYOM2), mRNA.	211	Ig-like C2-type 1.				muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		CAACTATGGCGTACACACACT	0.502000														19			19		0	0	1	0	0
TRPC6	7225	broad.mit.edu	37	11	101341917	101341917	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:101341917G>A	uc001pgk.4	-	8	2831	c.2406C>T	c.(2404-2406)aaC>aaT	p.N802N	TRPC6_uc009ywy.3_Silent_p.N686N|TRPC6_uc009ywz.1_Silent_p.N747N	NM_004621	NP_004612	Q9Y210	TRPC6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 6 (TRPC6), mRNA.	802					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		AAGTTACCTTGTTCATCTCTG	0.378000														112			48		0	0	1	0	0
FOXN4	121643	broad.mit.edu	37	12	109719221	109719221	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:109719221C>T	uc001toe.4	-	8	1390	c.1285G>A	c.(1285-1287)Gct>Act	p.A429T	FOXN4_uc009zvg.3_Missense_Mutation_p.A226T|FOXN4_uc001tof.4_Missense_Mutation_p.A249T	NM_213596	NP_998761	Q96NZ1	FOXN4_HUMAN	Homo sapiens forkhead box N4 (FOXN4), mRNA.	429					axon extension|embryo development|organ development|pattern specification process|regulation of heart contraction|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA 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			large_intestine(5)|lung(9)|ovary(2)	16						CCCTGCAGAGCGAAGTCCATG	0.612000														34			17		0	0	1	0	0
CHGB	1114	broad.mit.edu	37	20	5897001	5897001	+	Missense_Mutation	SNP	A	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:5897001A>T	uc002wmg.3	+	1	385	c.79A>T	c.(79-81)Aac>Tac	p.N27Y	CHGB_uc010zqz.2_5'UTR	NM_001819	NP_001810	P05060	SCG1_HUMAN	Homo sapiens chromogranin B (secretogranin 1) (CHGB), mRNA.	27						extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						GGATAACAGGAACCACAATGA	0.398000														19			10		0	0	1	0	0
DNAJC13	23317	broad.mit.edu	37	3	132169630	132169630	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:132169630T>C	uc003eor.3	+	5	541	c.476T>C	c.(475-477)tTt>tCt	p.F159S	DNAJC13_uc010htq.2_Missense_Mutation_p.F159S	NM_015268	NP_056083	O75165	DJC13_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 13 (DNAJC13), mRNA.	159							heat shock protein binding	p.W159*(1)		breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						ATTGAAGGATTTGTAGATCTC	0.323000														66			6		0	0	1	0	0
ERI3	79033	broad.mit.edu	37	1	44804807	44804807	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:44804807C>T	uc001clt.3	-	2	640	c.399G>A	c.(397-399)gcG>gcA	p.A133A	ERI3_uc010okv.2_Intron|ERI3_uc010okw.2_Silent_p.A55A	NM_024066	NP_076971	O43414	ERI3_HUMAN	Homo sapiens ERI1 exoribonuclease family member 3 (ERI3), mRNA.	133						intracellular	exonuclease activity|metal ion binding|nucleic acid binding			endometrium(2)|large_intestine(2)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						ACACCATTGCCGCCATGGATG	0.547000														191			17		0	0	1	0	0
RAB4B	53916	broad.mit.edu	37	19	41292767	41292767	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:41292767G>A	uc002opd.2	+	6	698	c.541G>A	c.(541-543)Gag>Aag	p.E181K	RAB4B_uc002opc.2_Non-coding_Transcript|RAB4B_uc002ope.2_Non-coding_Transcript|EGLN2_uc010ehd.3_5'UTR|RAB4B_uc002opf.2_Missense_Mutation_p.E207K	NM_016154	NP_057238	P61018	RAB4B_HUMAN	Homo sapiens RAB4B, member RAS oncogene family (RAB4B), mRNA.	181					protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	intracellular|plasma membrane	GTP binding|GTPase activity			endometrium(2)|kidney(3)|large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	11			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			GCTAGACCCGGAGAGGATGGG	0.701000														49			15		0	0	1	0	0
ALDH7A1	501	broad.mit.edu	37	5	125894979	125894979	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:125894979C>T	uc003ktx.3	-	10	1153	c.961G>A	c.(961-963)Gct>Act	p.A321T	ALDH7A1_uc003ktv.3_5'UTR|ALDH7A1_uc011cxa.2_Missense_Mutation_p.A348T	NM_001201377	NP_001188306	P49419	AL7A1_HUMAN	Homo sapiens aldehyde dehydrogenase 7 family, member A1 (ALDH7A1), transcript variant 1, mRNA.	321					cellular aldehyde metabolic process|lysine catabolic process|sensory perception of sound	cytosol|mitochondrial matrix|nucleus	L-aminoadipate-semialdehyde dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|betaine-aldehyde dehydrogenase activity			endometrium(1)|kidney(4)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	16		all_cancers(142;0.24)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0417)|OV - Ovarian serous cystadenocarcinoma(64;0.068)|all cancers(49;0.109)	NADH(DB00157)|Pyridoxine(DB00165)	CCCACAGCAGCGAAGAGAGCT	0.478000														19			14		0	0	1	0	0
PHF14	9678	broad.mit.edu	37	7	11076172	11076172	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:11076172G>A	uc003sry.2	+	8	2182	c.1730G>A	c.(1729-1731)cGt>cAt	p.R577H	PHF14_uc011jxi.2_Missense_Mutation_p.R292H|PHF14_uc011jxj.2_Missense_Mutation_p.R292H	NM_014660	NP_055475	O94880	PHF14_HUMAN	Homo sapiens PHD finger protein 14 (PHF14), transcript variant 2, mRNA.	577							zinc ion binding			NS(2)|breast(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	35				UCEC - Uterine corpus endometrioid carcinoma (126;0.205)		TCAGCTATTCGTAAACTTATG	0.468000														55			25		0	0	1	0	0
CYSLTR1	10800	broad.mit.edu	37	X	77528525	77528525	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:77528525G>A	uc022bzh.1	-	0	719	c.719C>T	c.(718-720)gCt>gTt	p.A240V	CYSLTR1_uc004edb.3_Missense_Mutation_p.A240V|CYSLTR1_uc010nma.3_Missense_Mutation_p.A240V|CYSLTR1_uc010nmb.3_Missense_Mutation_p.A240V	NM_006639	NP_006630	Q9Y271	CLTR1_HUMAN	Homo sapiens cysteinyl leukotriene receptor 1 (CYSLTR1), mRNA.	240					elevation of cytosolic calcium ion concentration|respiratory gaseous exchange	integral to plasma membrane|membrane fraction	leukotriene receptor activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14					Amlexanox(DB01025)|Cinalukast(DB00587)|Montelukast(DB00471)|Nedocromil(DB00716)|Pranlukast(DB01411)|Zafirlukast(DB00549)	TAAAAAGGCAGCGGTCACGAC	0.343000														51			48		0	0	1	0	0
HCN1	348980	broad.mit.edu	37	5	45262378	45262378	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:45262378G>A	uc003jok.3	-	7	2343	c.2318C>T	c.(2317-2319)gCg>gTg	p.A773V		NM_021072	NP_066550	O60741	HCN1_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.	773						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	p.Q772*(1)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						GTTGTGAAGCGCCTGCGTGCT	0.637000														29			15		0	0	1	0	0
SETDB2	83852	broad.mit.edu	37	13	50054363	50054363	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:50054363G>A	uc001vcz.3	+	7	1820	c.914G>A	c.(913-915)tGt>tAt	p.C305Y	SETDB2_uc010adg.2_Missense_Mutation_p.C281Y|SETDB2_uc010adh.2_Missense_Mutation_p.C293Y|SETDB2_uc001vda.3_Missense_Mutation_p.C293Y|SETDB2_uc021rjn.1_Missense_Mutation_p.C222Y	NM_031915	NP_114121	Q96T68	SETB2_HUMAN	Homo sapiens SET domain, bifurcated 2 (SETDB2), transcript variant 1, mRNA.	305	Pre-SET.				cell division|chromosome segregation|heart looping|left/right axis specification|mitosis|negative regulation of transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone methyltransferase activity (H3-K9 specific)|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	15		Lung NSC(96;0.000408)|Breast(56;0.00131)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.1e-09)		AGAACAAAATGTGCATGTCTT	0.358000														86			42		0	0	1	0	0
BRWD1	54014	broad.mit.edu	37	21	40610438	40610438	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:40610438T>C	uc002yxk.2	-	21	2838	c.2543A>G	c.(2542-2544)gAc>gGc	p.D848G	BRWD1_uc010goc.1_5'UTR|BRWD1_uc021wjf.1_Missense_Mutation_p.D848G|BRWD1_uc010goe.1_Non-coding_Transcript|BRWD1_uc010gof.1_Missense_Mutation_p.D301G|BRWD1_uc010gog.1_Non-coding_Transcript|BRWD1_uc010goh.1_Non-coding_Transcript|BRWD1_uc010goi.1_Missense_Mutation_p.D524G	NM_018963	NP_061836	Q9NSI6	BRWD1_HUMAN	Homo sapiens bromodomain and WD repeat domain containing 1 (BRWD1), transcript variant 1, mRNA.	848					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				ACTTTTTCTGTCACTTCTCCA	0.383000														39			29		0	0	1	0	0
ATR	545	broad.mit.edu	37	3	142168414	142168414	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:142168414G>A	uc003eux.4	-	46	7914	c.7792C>T	c.(7792-7794)Cga>Tga	p.R2598*	XRN1_uc003eus.3_5'Flank|XRN1_uc003eut.3_5'Flank|XRN1_uc003euu.3_5'Flank|XRN1_uc003euw.3_5'Flank|XRN1_uc011bnh.2_5'Flank|ATR_uc003euy.1_3'UTR	NM_001184	NP_001175	Q13535	ATR_HUMAN	Homo sapiens ataxia telangiectasia and Rad3 related (ATR), mRNA.	2598					DNA damage checkpoint|DNA repair|DNA replication|cell cycle|cellular response to UV|cellular response to gamma radiation|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity	p.Q2597K(1)		NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						CCTTGTAGTCGCTGCTCAATG	0.353000								Other conserved DNA damage response genes						29			15		0	0	1	0	0
SEMA6C	10500	broad.mit.edu	37	1	151105842	151105842	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:151105842G>A	uc001ewv.3	-	19	2343	c.2007C>T	c.(2005-2007)ggC>ggT	p.G669G	SEMA6C_uc001ewu.3_Silent_p.G637G|SEMA6C_uc001eww.3_Silent_p.G629G	NM_001178061	NP_001171532	Q9H3T2	SEM6C_HUMAN	Homo sapiens sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C (SEMA6C), transcript variant 1, mRNA.	637						integral to membrane	receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CGATGTCCTTGCCCCGACGTC	0.721000														6			12		0	0	1	0	0
IGF2R	3482	broad.mit.edu	37	6	160453618	160453618	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:160453618C>T	uc003qta.3	+	7	1066	c.918C>T	c.(916-918)tgC>tgT	p.C306C		NM_000876	NP_000867	P11717	MPRI_HUMAN	Homo sapiens insulin-like growth factor 2 receptor (IGF2R), mRNA.	306					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		AATCCAACTGCCGCTATGAAA	0.428000														52			36		0	0	1	0	0
MYH9	4627	broad.mit.edu	37	22	36697595	36697595	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:36697595C>T	uc003apg.3	-	20	2847	c.2616G>A	c.(2614-2616)gaG>gaA	p.E872E	MYH9_uc003aph.1_Silent_p.E736E	NM_002473	NP_002464	P35579	MYH9_HUMAN	Homo sapiens myosin, heavy chain 9, non-muscle (MYH9), mRNA.	872					actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	ADP binding|ATP binding|actin filament binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						ACTGCAGCGTCTCCATCTCCG	0.637000			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated		OREG0026520	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		19			12		0	0	1	0	0
ADNP2	22850	broad.mit.edu	37	18	77895757	77895757	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:77895757C>T	uc002lnw.3	+	3	2916	c.2461C>T	c.(2461-2463)Ccc>Tcc	p.P821S		NM_014913	NP_055728	Q6IQ32	ADNP2_HUMAN	Homo sapiens ADNP homeobox 2 (ADNP2), mRNA.	821					cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		CCTGCTCTTTCCCCACCTTGA	0.498000														36			41		0	0	1	0	0
GINS3	64785	broad.mit.edu	37	16	58426548	58426548	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:58426548C>T	uc002enh.4	+	0	251	c.43C>T	c.(43-45)Cct>Tct	p.P15S	GINS3_uc010cdj.3_Missense_Mutation_p.P15S|GINS3_uc002enj.4_Missense_Mutation_p.P15S	NM_022770	NP_073607	Q9BRX5	PSF3_HUMAN	Homo sapiens GINS complex subunit 3 (Psf3 homolog) (GINS3), transcript variant 2, mRNA.	15	Not essential for folding and stability of GINS complex, but may regulate accessibility to the central complex pore.				DNA replication	nucleus				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	7						TGCGCTGGGGCCTGAGGAGAA	0.597000														43			22		0	0	1	0	0
PHTF2	57157	broad.mit.edu	37	7	77569880	77569880	+	Silent	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:77569880A>C	uc003ugs.4	+	13	1902	c.1776A>C	c.(1774-1776)acA>acC	p.T592T	PHTF2_uc010ldv.3_Silent_p.T554T|PHTF2_uc003ugq.4_Silent_p.T554T|PHTF2_uc003ugt.4_Silent_p.T558T|PHTF2_uc003ugu.4_Silent_p.T554T|PHTF2_uc022agp.1_Silent_p.T592T	NM_001127357	NP_001120829	Q8N3S3	PHTF2_HUMAN	Homo sapiens putative homeodomain transcription factor 2 (PHTF2), transcript variant 1, mRNA.	592					regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum|nucleus	DNA binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	19						GACATTTAACATCTGCAAGGA	0.338000														82			7		0	0	1	0	0
FAM40B	57464	broad.mit.edu	37	7	129125492	129125492	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:129125492G>T	uc011koy.2	+	20	2367	c.2327G>T	c.(2326-2328)aGc>aTc	p.S776I	FAM40B_uc011koz.2_Missense_Mutation_p.S268I	NM_020704	NP_065755	Q9ULQ0	FA40B_HUMAN	Homo sapiens family with sequence similarity 40, member B (FAM40B), transcript variant 1, mRNA.	776										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GCTTTTAACAGCCGTCGCTAT	0.502000														71			24		1.17739e-12	1.4548e-12	1	1	0
DDX60L	91351	broad.mit.edu	37	4	169353660	169353660	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:169353660G>A	uc021xuh.1	-	10	1572	c.1462C>T	c.(1462-1464)Cat>Tat	p.H488Y	DDX60L_uc003irq.4_Missense_Mutation_p.H488Y|DDX60L_uc003irr.1_Missense_Mutation_p.H488Y|DDX60L_uc003irs.1_Missense_Mutation_p.H215Y	NM_001012967	NP_001012985	Q5H9U9	DDX6L_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like (DDX60L), mRNA.	488							ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		CTTTGAGCATGCCAGTGCAAA	0.343000														29			3		0	0	1	0	0
CCDC38	120935	broad.mit.edu	37	12	96273469	96273469	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:96273469T>C	uc001tek.2	-	11	1329	c.1095A>G	c.(1093-1095)gaA>gaG	p.E365E		NM_182496	NP_872302	Q502W7	CCD38_HUMAN	Homo sapiens coiled-coil domain containing 38 (CCDC38), mRNA.	365										breast(1)|endometrium(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CTTCAAGATTTTCATCTACAT	0.338000														141			7		0	0	1	0	0
RTN3	10313	broad.mit.edu	37	11	63488068	63488068	+	Silent	SNP	C	A	A	rs143833769	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:63488068C>A	uc001nxq.3	+	2	2281	c.2094C>A	c.(2092-2094)tcC>tcA	p.S698S	RTN3_uc001nxp.3_Intron|RTN3_uc009yov.3_Silent_p.S586S|RTN3_uc010rmt.2_Intron|RTN3_uc010rmu.2_Intron|RTN3_uc001nxm.3_Intron|RTN3_uc001nxn.3_Silent_p.S679S|RTN3_uc001nxo.3_Intron	NM_201428	NP_958831	O95197	RTN3_HUMAN	Homo sapiens reticulon 3 (RTN3), transcript variant 2, mRNA.	698					apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	Golgi membrane|endoplasmic reticulum membrane|extracellular space|integral to membrane				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						AAAATGAGTCCGGTGGTTCTG	0.373000														45			35		1.22384e-17	1.5618e-17	1	1	0
KIF26B	55083	broad.mit.edu	37	1	245847663	245847663	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:245847663C>T	uc001ibf.1	+	10	2827	c.2387C>T	c.(2386-2388)tCg>tTg	p.S796L	KIF26B_uc001ibg.1_Missense_Mutation_p.S414L|KIF26B_uc001ibh.1_Missense_Mutation_p.S38L	NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	Homo sapiens kinesin family member 26B (KIF26B), mRNA.	796					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			CAGATTGCATCGAGAGTCTTG	0.597000														19			7		0	0	1	0	0
FBXO40	51725	broad.mit.edu	37	3	121340550	121340550	+	Missense_Mutation	SNP	G	A	A	rs148128733	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:121340550G>A	uc003eeg.2	+	2	484	c.274G>A	c.(274-276)Gtg>Atg	p.V92M		NM_016298	NP_057382	Q9UH90	FBX40_HUMAN	Homo sapiens F-box protein 40 (FBXO40), mRNA.	92					muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		CCCCGCCAGCGTGGTCTGCTG	0.567000														30			23		0	0	1	0	0
RAB3D	9545	broad.mit.edu	37	19	11447954	11447954	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:11447954C>T	uc002mqx.3	-	1	383	c.122G>A	c.(121-123)cGa>cAa	p.R41Q		NM_004283	NP_004274	O95716	RAB3D_HUMAN	Homo sapiens RAB3D, member RAS oncogene family (RAB3D), mRNA.	41					exocytosis|protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|ovary(2)	14						GTCCGCGTATCGGAACAGGAA	0.537000														186			114		0	0	1	0	0
RGS7	6000	broad.mit.edu	37	1	240979635	240979635	+	Missense_Mutation	SNP	T	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:240979635T>A	uc001hyt.2	-	3	315	c.261A>T	c.(259-261)gaA>gaT	p.E87D	RGS7_uc010pyh.2_Missense_Mutation_p.E229D|RGS7_uc010pyj.1_Missense_Mutation_p.E171D|RGS7_uc001hyu.2_Missense_Mutation_p.E255D|RGS7_uc009xgn.1_Missense_Mutation_p.E202D|RGS7_uc001hyv.2_Missense_Mutation_p.E255D|RGS7_uc001hyw.2_Missense_Mutation_p.E255D	NM_002924	NP_002915	P49802	RGS7_HUMAN	Homo sapiens regulator of G-protein signaling 7 (RGS7), mRNA.	255	DEP.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity	p.A86S(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			GTAACTCATCTTCTGTTGGAG	0.363000														109			64		0	0	1	0	0
GATA3	2625	broad.mit.edu	37	10	8115914	8115914	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:8115914G>A	uc001ijz.3	+	5	1820	c.1263G>A	c.(1261-1263)acG>acA	p.T421T	GATA3_uc001ika.3_Silent_p.T420T	NM_001002295	NP_001002295	P23771	GATA3_HUMAN	Homo sapiens GATA binding protein 3 (GATA3), transcript variant 1, mRNA.	420					T cell receptor signaling pathway|TOR signaling cascade|aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of T cell differentiation|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|transcription coactivator activity|transcription factor binding|zinc ion binding			NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						CCACGCCCACGCCGATGCACC	0.642000			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""							39			21		0	0	1	0	0
PLXND1	23129	broad.mit.edu	37	3	129289894	129289894	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:129289894G>T	uc003emx.2	-	17	3689	c.3589C>A	c.(3589-3591)Ctc>Atc	p.L1197I		NM_015103	NP_055918	Q9Y4D7	PLXD1_HUMAN	Homo sapiens plexin D1 (PLXND1), mRNA.	1197					axon guidance	integral to membrane|intracellular|plasma membrane			PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						TGGATAACGAGGGTGAGAGGC	0.662000														185			14		0.000151284	0.000164177	1	1	0
CCDC75	253635	broad.mit.edu	37	2	37319369	37319369	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:37319369C>T	uc010ezz.3	+	5	644	c.499C>T	c.(499-501)Cga>Tga	p.R167*	CCDC75_uc002rpr.4_Nonsense_Mutation_p.R64*	NM_174931	NP_777591	Q8N954	CCD75_HUMAN	Homo sapiens coiled-coil domain containing 75 (CCDC75), mRNA.	167						intracellular	nucleic acid binding			endometrium(2)|kidney(3)|large_intestine(1)|urinary_tract(1)	7		all_hematologic(82;0.21)				AAGAAGCCAGCGAGCCTGTCA	0.373000														7			4		0	0	1	0	0
NRXN3	9369	broad.mit.edu	37	14	79933703	79933703	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:79933703C>T	uc001xun.3	+	12	2774	c.2283C>T	c.(2281-2283)atC>atT	p.I761I	NRXN3_uc001xum.1_Non-coding_Transcript|NRXN3_uc001xup.2_Non-coding_Transcript|NRXN3_uc001xuq.2_Silent_p.I129I|NRXN3_uc010asw.3_Silent_p.I129I|NRXN3_uc001xur.4_Silent_p.I129I	NM_004796	NP_004787	Q9HDB5	NRX3B_HUMAN	Homo sapiens neurexin 3 (NRXN3), transcript variant 1, mRNA.	129					angiogenesis|cell adhesion	integral to membrane		p.R760fs*16(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		TGGTCCGCATCGACAGTGCTC	0.557000														34			31		0	0	1	0	0
CCDC137	339230	broad.mit.edu	37	17	79638824	79638824	+	Missense_Mutation	SNP	C	T	T	rs79563828	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:79638824C>T	uc002kbc.4	+	3	584	c.548C>T	c.(547-549)gCg>gTg	p.A183V		NM_199287	NP_954981	Q6PK04	CC137_HUMAN	Homo sapiens coiled-coil domain containing 137 (CCDC137), mRNA.	183										NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(2)	12	all_neural(118;0.0878)|all_lung(278;0.23)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			GAGGAAAAGGCGGCAGACAGG	0.567000														21			9		0	0	1	0	0
SLC50A1	55974	broad.mit.edu	37	1	155110754	155110754	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155110754C>A	uc001fhj.4	+	5	763	c.663C>A	c.(661-663)acC>acA	p.T221T	SLC50A1_uc001fhk.4_Silent_p.T166T|SLC50A1_uc001fhl.4_Silent_p.T167T	NM_018845	NP_061333	Q9BRV3	SWET1_HUMAN	Homo sapiens solute carrier family 50 (sugar transporter), member 1 (SLC50A1), transcript variant 1, mRNA.	221	Mediates interaction with TRPV2 (By similarity).				positive regulation of gene expression, epigenetic	Golgi membrane|integral to membrane|plasma membrane	glucoside transmembrane transporter activity			endometrium(1)|lung(1)|ovary(1)|skin(1)	4						TCCTGCAAACCTGAGGCTGCT	0.547000														12			7		1.12685e-05	1.25391e-05	1	1	0
CEP250	11190	broad.mit.edu	37	20	34092805	34092805	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:34092805A>G	uc021wco.1	+	29	7255	c.6608A>G	c.(6607-6609)gAg>gGg	p.E2203G	CEP250_uc010zve.2_Missense_Mutation_p.E1571G	NM_007186	NP_009117	Q9BV73	CP250_HUMAN	Homo sapiens centrosomal protein 250kDa (CEP250), mRNA.	2203					G2/M transition of mitotic cell cycle|centriole-centriole cohesion|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			TCTGTCCTGGAGCGGGACTCA	0.607000														15			4		0	0	1	0	0
MYO5B	4645	broad.mit.edu	37	18	47389692	47389692	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:47389692C>T	uc002leb.2	-	28	4137	c.3849G>A	c.(3847-3849)ccG>ccA	p.P1283P	MYO5B_uc002lea.2_Silent_p.P424P	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	Homo sapiens myosin VB (MYO5B), mRNA.	1283					protein transport	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		CATTAATGTTCGGCTCCTAGA	0.418000														34			18		0	0	1	0	0
ZNF366	167465	broad.mit.edu	37	5	71756469	71756469	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:71756469G>T	uc003kce.1	-	1	1041	c.855C>A	c.(853-855)caC>caA	p.H285Q		NM_152625	NP_689838	Q8N895	ZN366_HUMAN	Homo sapiens zinc finger protein 366 (ZNF366), mRNA.	285					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		GCTTCCCGCAGTGCGTGCACG	0.632000														64			38		4.92203e-23	6.40486e-23	1	1	0
SRRT	51593	broad.mit.edu	37	7	100485034	100485034	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100485034G>A	uc003uwy.2	+	15	2336	c.2069G>A	c.(2068-2070)cGc>cAc	p.R690H	SRRT_uc010lhl.1_Missense_Mutation_p.R689H|SRRT_uc003uxa.2_Missense_Mutation_p.R689H|SRRT_uc003uwz.2_Missense_Mutation_p.R690H	NM_015908	NP_056992	Q9BXP5	SRRT_HUMAN	Homo sapiens serrate RNA effector molecule homolog (Arabidopsis) (SRRT), transcript variant 1, mRNA.	690					cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						AAGATGGGGCGCAAAGACCCA	0.552000														31			54		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9067550	9067550	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9067550G>T	uc002mkp.3	-	2	20100	c.19896C>A	c.(19894-19896)acC>acA	p.T6632T		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	6634	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						TGGAAACAATGGTGTCCCTTA	0.498000														146			16		1.15088e-07	1.32926e-07	1	1	0
RGS3	5998	broad.mit.edu	37	9	116285291	116285291	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:116285291C>A	uc004bhq.3	+	17	2049	c.1840C>A	c.(1840-1842)Ctc>Atc	p.L614I	RGS3_uc004bhr.3_Missense_Mutation_p.L502I|RGS3_uc004bhs.3_Missense_Mutation_p.L504I|RGS3_uc004bht.3_Missense_Mutation_p.L333I|RGS3_uc010muy.3_Missense_Mutation_p.L333I|RGS3_uc004bhu.3_Missense_Mutation_p.L240I	NM_144488	NP_652759	P49796	RGS3_HUMAN	Homo sapiens regulator of G-protein signaling 3 (RGS3), transcript variant 6, mRNA.	614					inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						GAGGAACCCCCTCTACCTCCA	0.607000														77			11		0.00010058	0.000109296	1	1	0
PRDM16	63976	broad.mit.edu	37	1	3102694	3102694	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:3102694G>A	uc001akf.3	+	1	125	c.43G>A	c.(43-45)Ggt>Agt	p.G15S	PRDM16_uc001ake.3_Missense_Mutation_p.G15S|PRDM16_uc009vlh.3_5'UTR|PRDM16_uc001akc.3_Missense_Mutation_p.G15S	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN	Homo sapiens PR domain containing 16 (PRDM16), transcript variant 1, mRNA.	15					brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		TTTAGGTGACGGTGACGTTGT	0.622000			T	EVI1	"""MDS, AML"""									35			18		0	0	1	0	0
KAT6B	23522	broad.mit.edu	37	10	76789241	76789241	+	Silent	SNP	C	T	T	rs147158118		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:76789241C>T	uc001jwn.1	+	17	5152	c.4659C>T	c.(4657-4659)agC>agT	p.S1553S	KAT6B_uc001jwo.1_Silent_p.S1261S|KAT6B_uc001jwp.1_Silent_p.S1370S	NM_012330	NP_036462	Q8WYB5	MYST4_HUMAN	Homo sapiens K(lysine) acetyltransferase 6B (KAT6B), mRNA.	1553					histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding										AGGAGAGCAGCGAACAGGACG	0.527000														32			22		0	0	1	0	0
ADSL	158	broad.mit.edu	37	22	40745930	40745930	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:40745930G>A	uc003ayp.4	+	1	307	c.248G>A	c.(247-249)cGt>cAt	p.R83H	ADSL_uc003ays.4_Missense_Mutation_p.R83H	NM_000026	NP_000017	P30566	PUR8_HUMAN	Homo sapiens adenylosuccinate lyase (ADSL), transcript variant 1, mRNA.	83					AMP biosynthetic process|protein tetramerization|purine base metabolic process	cytosol	(S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity|N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(2)|ovary(1)|prostate(1)	19						GAAGAGAAACGTTTACGACAT	0.463000														32			23		0	0	1	0	0
WDR96	80217	broad.mit.edu	37	10	105912435	105912435	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:105912435G>A	uc001kxw.3	-	27	3706	c.3590C>T	c.(3589-3591)aCa>aTa	p.T1197I	WDR96_uc009xxq.3_Missense_Mutation_p.T505I	NM_025145	NP_079421	Q8NDM7	WDR96_HUMAN	Homo sapiens WD repeat domain 96 (WDR96), mRNA.	1197										NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						AAAGGCCTGTGTGCTTTCTTG	0.338000														72			48		0	0	1	0	0
ASH1L	55870	broad.mit.edu	37	1	155447933	155447933	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155447933C>A	uc009wqq.3	-	2	5208	c.4728G>T	c.(4726-4728)caG>caT	p.Q1576H	ASH1L_uc001fkt.3_Missense_Mutation_p.Q1576H|ASH1L_uc009wqr.1_Missense_Mutation_p.Q1576H	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	Homo sapiens ash1 (absent, small, or homeotic)-like (Drosophila) (ASH1L), mRNA.	1576					DNA packaging|cell-cell signaling|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|chromosome|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			AACAGTCAATCTGTAAAGGTG	0.458000														30			34		2.20474e-14	2.7607e-14	1	1	0
SMYD1	150572	broad.mit.edu	37	2	88387390	88387390	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:88387390G>A	uc002ssr.3	+	2	409	c.324G>A	c.(322-324)gcG>gcA	p.A108A	SMYD1_uc002ssq.2_Intron	NM_198274	NP_938015	Q8NB12	SMYD1_HUMAN	Homo sapiens SET and MYND domain containing 1 (SMYD1), mRNA.	108					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	p.A107V(1)		NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						GGCTGGCGGCGCGCATCATGT	0.607000														8			6		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90001396	90001396	+	Splice_Site	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:90001396G>T	uc003kju.3	+	37	8662	c.8566_splice	c.e37+1	p.G2856_splice	GPR98_uc003kjt.3_Splice_Site_p.G562_splice|GPR98_uc003kjv.3_Splice_Site_p.G456_splice	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	2856					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TGGATCTCTAGGTTTGTGTTA	0.358000														42			7		1.26484e-09	1.50989e-09	1	1	0
CLSTN2	64084	broad.mit.edu	37	3	140185494	140185494	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:140185494G>A	uc003etn.3	+	7	1455	c.1265G>A	c.(1264-1266)cGc>cAc	p.R422H	CLSTN2_uc003etm.2_Missense_Mutation_p.R422H	NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN	Homo sapiens calsyntenin 2 (CLSTN2), mRNA.	422					homophilic cell adhesion	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						CACAACTGCCGCCTCGTCTTT	0.547000										HNSCC(16;0.037)				30			28		0	0	1	0	0
RLTPR	146206	broad.mit.edu	37	16	67682846	67682846	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:67682846C>T	uc002etn.3	+	16	1680	c.1560C>T	c.(1558-1560)ggC>ggT	p.G520G	RLTPR_uc010cel.1_Silent_p.G513G|RLTPR_uc010vjr.2_Silent_p.G484G	NM_001013838	NP_001013860	Q6F5E8	LR16C_HUMAN	Homo sapiens RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing (RLTPR), mRNA.	520										breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		GCGACGCAGGCGCTGTGAGCT	0.627000														7			8		0	0	1	0	0
ZNF323	64288	broad.mit.edu	37	6	28297126	28297126	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:28297126G>A	uc003nlc.3	-	1	724	c.335C>T	c.(334-336)gCt>gTt	p.A112V	ZNF323_uc003nld.3_Missense_Mutation_p.A112V|ZNF323_uc010jra.3_Missense_Mutation_p.A112V|ZNF323_uc003nla.3_Missense_Mutation_p.A112V|ZNF323_uc003nlb.3_Intron|ZNF323_uc010jrb.3_Intron|ZNF323_uc021yrs.1_Missense_Mutation_p.A112V|ZNF323_uc021yrt.1_Intron	NM_030899	NP_001230173	Q96LW9	ZN323_HUMAN	Homo sapiens zinc finger protein 323 (ZNF323), transcript variant 1, mRNA.	112	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|ovary(2)|prostate(2)|skin(1)	27						TTCAACTACAGCCACAGCCTC	0.537000														182			27		0	0	1	0	0
IRF8	3394	broad.mit.edu	37	16	85942614	85942614	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:85942614G>T	uc002fjh.3	+	2	250	c.193G>T	c.(193-195)Ggg>Tgg	p.G65W	IRF8_uc002fji.3_Missense_Mutation_p.G65W	NM_002163	NP_002154	Q02556	IRF8_HUMAN	Homo sapiens interferon regulatory factor 8 (IRF8), mRNA.	65					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	p.G65G(1)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24		Prostate(104;0.0771)				AGTTTTTAAAGGGAAGTTTAA	0.473000														51			13		1.5842e-08	1.86177e-08	1	1	0
GLP2R	9340	broad.mit.edu	37	17	9729552	9729552	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:9729552C>T	uc002gmd.1	+	0	172	c.172C>T	c.(172-174)Ctg>Ttg	p.L58L	GLP2R_uc010cog.1_Non-coding_Transcript	NM_004246	NP_004237	O95838	GLP2R_HUMAN	Homo sapiens glucagon-like peptide 2 receptor (GLP2R), mRNA.	58					G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane				endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)	TCTGGTCCTGCTGGTTTCCAT	0.488000														29			3		0	0	1	0	0
KCNJ2	3759	broad.mit.edu	37	17	68171380	68171380	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:68171380G>A	uc010dfg.3	+	1	601	c.200G>A	c.(199-201)cGg>cAg	p.R67Q	KCNJ2_uc002jir.3_Missense_Mutation_p.R67Q|KCNJ2_uc021ucj.1_Missense_Mutation_p.R67Q	NM_000891	NP_000882	P63252	IRK2_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 2 (KCNJ2), mRNA.	67			R -> W (in LQT7).		synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity|protein binding	p.R67W(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1)	25	Breast(10;1.64e-08)					AAGGGGCAACGGTACCTCGCA	0.517000														45			26		0	0	1	0	0
PLCXD3	345557	broad.mit.edu	37	5	41381941	41381941	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:41381941T>G	uc003jmm.1	-	1	901	c.799A>C	c.(799-801)Aca>Cca	p.T267P		NM_001005473	NP_001005473	Q63HM9	PLCX3_HUMAN	Homo sapiens phosphatidylinositol-specific phospholipase C, X domain containing 3 (PLCXD3), mRNA.	267					intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						TCTGTGATTGTTTCTCTGAGG	0.408000														41			24		0	0	1	0	0
TUBA3C	7278	broad.mit.edu	37	13	19748045	19748045	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:19748045C>A	uc009zzj.3	-	4	1416	c.1311G>T	c.(1309-1311)gtG>gtT	p.V437V		NM_006001	NP_525125	Q13748	TBA3C_HUMAN	Homo sapiens tubulin, alpha 3c (TUBA3C), mRNA.	437					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	p.G436G(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		CCACGGAATCCACGCCCACCT	0.597000														61			35		5.59293e-11	6.79972e-11	1	1	0
MYO1D	4642	broad.mit.edu	37	17	30986141	30986141	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:30986141A>G	uc002hho.1	-	16	2349	c.2337T>C	c.(2335-2337)atT>atC	p.I779I	MYO1D_uc002hhp.1_Silent_p.I779I	NM_015194	NP_056009	O94832	MYO1D_HUMAN	Homo sapiens myosin ID (MYO1D), mRNA.	779						myosin complex	ATP binding|actin binding|calmodulin binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			ACCTATTGAAAATCGTCTGCA	0.498000											OREG0024311	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		44			6		0	0	1	0	0
FLNA	2316	broad.mit.edu	37	X	153583193	153583193	+	Splice_Site	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153583193C>T	uc004fkk.2	-	31	5466	c.5217_splice	c.e31+1	p.T1739_splice	FLNA_uc011mzn.1_Splice_Site|FLNA_uc010nuu.1_Splice_Site_p.T1731_splice	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	Homo sapiens filamin A, alpha (FLNA), transcript variant 2, mRNA.	1739			Missing (in TOD).		actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	Fc-gamma receptor I complex binding|GTP-Ral binding|Rac GTPase binding|actin filament binding|glycoprotein binding|protein homodimerization activity|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCCTCCTCACCGTCACTTGGA	0.637000														21			9		0	0	1	0	0
DCTN2	10540	broad.mit.edu	37	12	57927068	57927068	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57927068G>A	uc021qzn.1	-	9	835	c.703C>T	c.(703-705)Cgc>Tgc	p.R235C	DCTN2_uc001som.1_Missense_Mutation_p.R230C|DCTN2_uc009zpv.1_Missense_Mutation_p.R143C|DCTN2_uc009zpw.1_Missense_Mutation_p.R143C	NM_006400	NP_006391	Q13561	DCTN2_HUMAN	Homo sapiens dynactin 2 (p50) (DCTN2), mRNA.	230					G2/M transition of mitotic cell cycle|cell proliferation|mitosis	centrosome|cytosol|dynactin complex|dynein complex|kinetochore|membrane|microtubule|vesicle	motor activity|protein binding			endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|upper_aerodigestive_tract(2)	11						TCTGTCAGGCGCTTTTCAAGT	0.527000														67			40		0	0	1	0	0
SH3PXD2A	9644	broad.mit.edu	37	10	105362637	105362637	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:105362637G>A	uc010qqu.1	-	11	2150	c.2083C>T	c.(2083-2085)Cgc>Tgc	p.R695C	SH3PXD2A_uc010qqr.2_Intron|SH3PXD2A_uc010qqs.1_Missense_Mutation_p.R587C|SH3PXD2A_uc010qqt.1_Missense_Mutation_p.R629C|SH3PXD2A_uc009xxn.1_Missense_Mutation_p.R587C|SH3PXD2A_uc001kxj.1_Missense_Mutation_p.R752C	NM_014631	NP_055446	Q5TCZ1	SPD2A_HUMAN	Homo sapiens SH3 and PX domains 2A (SH3PXD2A), mRNA.	780	Ser-rich.				cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		CTCAGCTGGCGCCGTAAAGTG	0.642000														226			17		0	0	1	0	0
TMTC2	160335	broad.mit.edu	37	12	83251240	83251240	+	Missense_Mutation	SNP	G	A	A	rs142358970		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:83251240G>A	uc001szt.3	+	1	967	c.535G>A	c.(535-537)Gca>Aca	p.A179T	TMTC2_uc001szr.1_Missense_Mutation_p.A179T|TMTC2_uc001szs.1_Missense_Mutation_p.A179T|TMTC2_uc010suk.2_Intron	NM_152588	NP_689801	Q8N394	TMTC2_HUMAN	Homo sapiens transmembrane and tetratricopeptide repeat containing 2 (TMTC2), mRNA.	179						endoplasmic reticulum|integral to membrane	binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						AGGACTGTGCGCAGGATGCAG	0.473000														29			29		0	0	1	0	0
RAB40A	142684	broad.mit.edu	37	X	102754930	102754930	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:102754930C>T	uc022cbs.1	-	0	755	c.755G>A	c.(754-756)aGc>aAc	p.S252N	RAB40A_uc004ekk.3_Missense_Mutation_p.S252N	NM_080879	NP_543155	Q8WXH6	RB40A_HUMAN	Homo sapiens RAB40A, member RAS oncogene family (RAB40A), mRNA.	252					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	12						TTTGCAGAGGCTGCTCTTGTG	0.537000														108			10		0	0	1	0	0
PEX12	5193	broad.mit.edu	37	17	33904225	33904225	+	Missense_Mutation	SNP	T	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:33904225T>A	uc002hjp.3	-	1	1128	c.512A>T	c.(511-513)gAa>gTa	p.E171V		NM_000286	NP_000277	O00623	PEX12_HUMAN	Homo sapiens peroxisomal biogenesis factor 12 (PEX12), mRNA.	171					protein import into peroxisome matrix	integral to peroxisomal membrane	protein C-terminus binding|zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(8)	18				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AAACCATCCTTCCCAGGCCAT	0.483000														25			23		0	0	1	0	0
HIAT1	64645	broad.mit.edu	37	1	100525513	100525513	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:100525513C>T	uc001dst.3	+	3	323	c.323C>T	c.(322-324)aCg>aTg	p.T108M		NM_033055	NP_149044	Q96MC6	HIAT1_HUMAN	Homo sapiens hippocampus abundant transcript 1 (HIAT1), mRNA.	108					transmembrane transport	integral to membrane|plasma membrane	transporter activity	p.T108T(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|skin(1)	16		all_epithelial(167;2.96e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0832)|all cancers(265;0.136)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)		TTGCTGCTAACGGTGTTTTTC	0.378000														212			19		0	0	1	0	0
DYNLT1	6993	broad.mit.edu	37	6	159058914	159058914	+	Missense_Mutation	SNP	C	T	T	rs142843740		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:159058914C>T	uc003qrn.2	-	2	146	c.82G>A	c.(82-84)Gca>Aca	p.A28T		NM_006519	NP_006510	P63172	DYLT1_HUMAN	Homo sapiens dynein, light chain, Tctex-type 1 (DYNLT1), mRNA.	28					cell division|establishment of mitotic spindle orientation|intracellular transport of viral proteins in host cell|mitosis|negative regulation of neurogenesis|regulation of G-protein coupled receptor protein signaling pathway	Golgi apparatus|cytoplasmic dynein complex|microtubule|spindle	identical protein binding|motor activity			lung(2)	2		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;4.02e-18)|BRCA - Breast invasive adenocarcinoma(81;9.53e-06)		CCACCAATTGCGCTTTCTATA	0.463000														50			25		0	0	1	0	0
EPAS1	2034	broad.mit.edu	37	2	46603893	46603893	+	Splice_Site	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:46603893G>A	uc002ruv.3	+	9	1759	c.1249_splice	c.e9+1	p.G417_splice	EPAS1_uc002ruw.3_5'Flank	NM_001430	NP_001421	Q99814	EPAS1_HUMAN	Homo sapiens endothelial PAS domain protein 1 (EPAS1), mRNA.	417					angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding	p.?(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			CTGGATTTCGGTGGGTGCTTC	0.562000														51			32		0	0	1	0	0
IREB2	3658	broad.mit.edu	37	15	78730683	78730683	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:78730683G>A	uc002bdr.2	+	0	166	c.4G>A	c.(4-6)Gac>Aac	p.D2N	IREB2_uc010unb.1_5'UTR|IREB2_uc002bdq.3_Missense_Mutation_p.D2N	NM_004136	NP_004127	P48200	IREB2_HUMAN	Homo sapiens iron-responsive element binding protein 2 (IREB2), mRNA.	2							4 iron, 4 sulfur cluster binding|metal ion binding|protein binding			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		TCCGGCGATGGACGCCCCAAA	0.657000														3			4		0	0	1	0	0
PITX2	5308	broad.mit.edu	37	4	111539701	111539701	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:111539701G>T	uc003iaf.3	-	6	2357	c.534C>A	c.(532-534)aaC>aaA	p.N178K	PITX2_uc003iac.3_Missense_Mutation_p.N185K|PITX2_uc003iad.3_Missense_Mutation_p.N178K|PITX2_uc021xqr.1_Missense_Mutation_p.N178K|PITX2_uc003iae.3_Missense_Mutation_p.N132K|PITX2_uc021xqs.1_Missense_Mutation_p.N132K	NM_001204397	NP_001191326	Q99697	PITX2_HUMAN	Homo sapiens paired-like homeodomain 2 (PITX2), transcript variant 4, mRNA.	178					determination of left/right symmetry|organ morphogenesis	transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			breast(1)|endometrium(3)|large_intestine(1)|lung(5)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00222)		TGGCGGCCCAGTTGTTGTAGG	0.552000														20			24		1.85244e-09	2.20857e-09	1	1	0
MLST8	64223	broad.mit.edu	37	16	2258236	2258236	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:2258236C>T	uc002coy.3	+	6	990	c.599C>T	c.(598-600)aCg>aTg	p.T200M	MLST8_uc002cpc.3_Missense_Mutation_p.T200M|MLST8_uc010uvx.2_Missense_Mutation_p.T134M|MLST8_uc002cpd.3_Missense_Mutation_p.T134M|MLST8_uc002cpb.3_Missense_Mutation_p.T199M|MLST8_uc002coz.3_Missense_Mutation_p.T200M|MLST8_uc002cpe.3_Missense_Mutation_p.T200M|MLST8_uc002cpf.3_Missense_Mutation_p.T200M|MLST8_uc002cph.3_Intron	NM_022372	NP_071767	Q9BVC4	LST8_HUMAN	Homo sapiens MTOR associated protein, LST8 homolog (S. cerevisiae) (MLST8), transcript variant 1, mRNA.	200					T cell costimulation|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade	cytosol	protein binding			large_intestine(3)|lung(2)|skin(1)	6						TGGAATCTGACGGGGGGCATT	0.632000														104			9		0	0	1	0	0
C8orf46	254778	broad.mit.edu	37	8	67428264	67428264	+	Nonsense_Mutation	SNP	A	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:67428264A>T	uc003xwg.3	+	5	970	c.577A>T	c.(577-579)Aag>Tag	p.K193*	C8orf46_uc003xwh.3_Non-coding_Transcript|C8orf46_uc011let.2_3'UTR|C8orf46_uc003xwi.3_Nonsense_Mutation_p.K58*	NM_152765	NP_689978	Q8TAG6	CH046_HUMAN	Homo sapiens chromosome 8 open reading frame 46 (C8orf46), mRNA.	193										endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|skin(2)	6			Epithelial(68;0.0224)|BRCA - Breast invasive adenocarcinoma(89;0.0508)|all cancers(69;0.0558)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			GCACAAGAAGAAGTCTGAATA	0.577000														18			10		0	0	1	0	0
HSPG2	3339	broad.mit.edu	37	1	22168809	22168809	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:22168809C>T	uc009vqd.3	-	67	9018	c.8978G>A	c.(8977-8979)cGt>cAt	p.R2993H	HSPG2_uc001bfj.3_Missense_Mutation_p.R2992H	NM_005529	NP_005520	P98160	PGBM_HUMAN	Homo sapiens heparan sulfate proteoglycan 2 (HSPG2), mRNA.	2992	Ig-like C2-type 15.				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)	GCTGGCTGCACGACACACATA	0.632000														16			10		0	0	1	0	0
FAT2	2196	broad.mit.edu	37	5	150945414	150945414	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:150945414G>T	uc003lue.4	-	0	3092	c.3079C>A	c.(3079-3081)Ctc>Atc	p.L1027I	FAT2_uc010jhx.1_Missense_Mutation_p.L1027I	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	1027	Cadherin 8.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGAGGGTGGAGATTCTCATTC	0.602000														28			27		3.28513e-13	4.08142e-13	1	1	0
TINAG	27283	broad.mit.edu	37	6	54208056	54208056	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:54208056G>A	uc003pcj.2	+	4	803	c.657G>A	c.(655-657)gaG>gaA	p.E219E	TINAG_uc010jzt.2_Intron	NM_014464	NP_055279	Q9UJW2	TINAG_HUMAN	Homo sapiens tubulointerstitial nephritis antigen (TINAG), mRNA.	219					Malpighian tubule morphogenesis|cell adhesion|immune response|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			ATCTTCCAGAGTTTTTTGTTG	0.393000														42			23		0	0	1	0	0
MCHR1	2847	broad.mit.edu	37	22	41077577	41077577	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:41077577C>T	uc003ayz.3	+	1	1182	c.914C>T	c.(913-915)aCg>aTg	p.T305M	MCHR1_uc003aza.3_Missense_Mutation_p.T194M|HV452684_uc003azb.1_Non-coding_Transcript	NM_005297	NP_005288	Q99705	MCHR1_HUMAN	Homo sapiens melanin-concentrating hormone receptor 1 (MCHR1), mRNA.	305			T -> M.		elevation of cytosolic calcium ion concentration|feeding behavior|generation of precursor metabolites and energy|inhibition of adenylate cyclase activity by G-protein signaling pathway	integral to plasma membrane|nonmotile primary cilium	neuropeptide receptor activity			endometrium(5)|large_intestine(7)|lung(6)|pancreas(1)|urinary_tract(1)	20						CAGCGCATGACGTCCTCAGTG	0.597000														31			20		0	0	1	0	0
LPCAT2	54947	broad.mit.edu	37	16	55584911	55584911	+	Missense_Mutation	SNP	C	T	T	rs139462449		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:55584911C>T	uc002eie.4	+	10	1293	c.1112C>T	c.(1111-1113)gCg>gTg	p.A371V	LPCAT2_uc002eic.3_Missense_Mutation_p.A101V	NM_017839	NP_060309	Q7L5N7	PCAT2_HUMAN	Homo sapiens lysophosphatidylcholine acyltransferase 2 (LPCAT2), mRNA.	371					cellular membrane organization|platelet activating factor biosynthetic process	Golgi membrane|Golgi stack|endoplasmic reticulum membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	12						GCATCTATTGCGAGTTCCTCA	0.348000														43			35		0	0	1	0	0
BCAT1	586	broad.mit.edu	37	12	25002836	25002836	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:25002836G>T	uc001rgd.4	-	5	1085	c.558C>A	c.(556-558)ctC>ctA	p.L186L	BCAT1_uc001rgc.3_Silent_p.L185L|BCAT1_uc010six.2_Silent_p.L198L|BCAT1_uc010siy.2_Silent_p.L149L|BCAT1_uc001rge.4_Silent_p.L125L	NM_005504	NP_005495	P54687	BCAT1_HUMAN	Homo sapiens branched chain amino-acid transaminase 1, cytosolic (BCAT1), transcript variant 1, mRNA.	186					G1/S transition of mitotic cell cycle|branched chain family amino acid biosynthetic process|branched chain family amino acid catabolic process|cell proliferation	cytosol	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity			breast(1)|large_intestine(1)|lung(3)|prostate(2)	7	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Ovarian(17;0.107)|Colorectal(261;0.196)				Gabapentin(DB00996)|L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Valine(DB00161)|Pyridoxal Phosphate(DB00114)	CTGGGCTCAAGAGTACAAAGA	0.468000														36			18		6.49762e-13	8.04122e-13	1	1	0
SEL1L	6400	broad.mit.edu	37	14	81946082	81946082	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:81946082A>G	uc010tvv.2	-	19	2166	c.2049T>C	c.(2047-2049)gaT>gaC	p.D683D		NM_005065	NP_005056	Q9UBV2	SE1L1_HUMAN	Homo sapiens sel-1 suppressor of lin-12-like (C. elegans) (SEL1L), transcript variant 1, mRNA.	683	Interaction with ERLEC1, OS9 and SYVN1.				Notch signaling pathway	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	28				BRCA - Breast invasive adenocarcinoma(234;0.0299)		CAAGGTGAATATCCTATAATA	0.363000														62			5		0	0	1	0	0
STRN4	29888	broad.mit.edu	37	19	47228890	47228890	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:47228890C>A	uc002pfm.3	-	9	1318	c.1285G>T	c.(1285-1287)Gat>Tat	p.D429Y	STRN4_uc002pfl.3_Missense_Mutation_p.D422Y|STRN4_uc010xyf.2_Non-coding_Transcript|STRN4_uc010xyg.1_Non-coding_Transcript	NM_001039877	NP_001034966	Q9NRL3	STRN4_HUMAN	Homo sapiens striatin, calmodulin binding protein 4 (STRN4), transcript variant 2, mRNA.	422						cytoplasm|membrane	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)		TTAAAAGCATCTTTGCTGTCA	0.602000														28			10		0.000978159	0.00103832	1	1	0
REST	5978	broad.mit.edu	37	4	57797637	57797637	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:57797637T>G	uc003hch.3	+	3	2960	c.2613T>G	c.(2611-2613)aaT>aaG	p.N871K	REST_uc003hci.3_Missense_Mutation_p.N871K|REST_uc010ihf.3_Missense_Mutation_p.N545K	NM_005612	NP_005603	Q13127	REST_HUMAN	Homo sapiens RE1-silencing transcription factor (REST), transcript variant 1, mRNA.	871					cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|zinc ion binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					CAAAGGAAAATTTAAGAGAAG	0.438000														90			62		0	0	1	0	0
SLC4A5	57835	broad.mit.edu	37	2	74452104	74452104	+	Missense_Mutation	SNP	C	T	T	rs144930405	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:74452104C>T	uc002sko.1	-	23	3159	c.3157G>A	c.(3157-3159)Gtt>Att	p.V1053I	SLC4A5_uc002skl.3_Non-coding_Transcript|SLC4A5_uc002skn.3_Missense_Mutation_p.V1037I|SLC4A5_uc010ffc.1_Missense_Mutation_p.V956I|SLC4A5_uc002skp.1_Missense_Mutation_p.V935I|SLC4A5_uc002sks.1_Silent_p.S944S	NM_021196	NP_067019	Q9BY07	S4A5_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 5 (SLC4A5), transcript variant a, mRNA.	1053						apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						AGCCTTCGAACGATGATGAGG	0.453000														22			12		0	0	1	0	0
GPATCH8	23131	broad.mit.edu	37	17	42474972	42474972	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:42474972A>G	uc002igw.2	-	7	4692	c.4473T>C	c.(4471-4473)ggT>ggC	p.G1491G	GPATCH8_uc002igv.2_Silent_p.G1413G|GPATCH8_uc010wiz.2_Silent_p.G1413G	NM_001002909	NP_001002909	Q9UKJ3	GPTC8_HUMAN	Homo sapiens G patch domain containing 8 (GPATCH8), transcript variant 1, mRNA.	1491						intracellular	nucleic acid binding|zinc ion binding			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		GCAGGTCCTGACCTGAGAAGA	0.602000														29			6		0	0	1	0	0
DSCR6	53820	broad.mit.edu	37	21	38390258	38390258	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:38390258G>A	uc002yvv.3	+	3	534	c.324G>A	c.(322-324)acG>acA	p.T108T	DSCR6_uc011aec.2_5'UTR|DSCR6_uc010gnd.3_5'UTR	NM_018962	NP_061835	P57055	DSCR6_HUMAN	Homo sapiens Down syndrome critical region gene 6 (DSCR6), mRNA.	108	Ripply homology domain.					nucleus				NS(1)|breast(1)|kidney(2)|lung(3)|upper_aerodigestive_tract(1)	8		Myeloproliferative disorder(46;0.0632)				TGCAAGCCACGATTGACTTCT	0.522000														18			14		0	0	1	0	0
CDK13	8621	broad.mit.edu	37	7	40027399	40027399	+	Silent	SNP	G	A	A	rs144712960		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:40027399G>A	uc003thh.4	+	1	1695	c.1413G>A	c.(1411-1413)gcG>gcA	p.A471A	CDK13_uc003thi.4_Silent_p.A471A|CDK13_uc011kbf.2_5'UTR	NM_003718	NP_003709	Q14004	CDK13_HUMAN	Homo sapiens cyclin-dependent kinase 13 (CDK13), transcript variant 1, mRNA.	471					alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|RNA polymerase II carboxy-terminal domain kinase activity|cyclin-dependent protein kinase activity|protein binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						cagaagcagcgaaagctgcag	0.502000														12			23		0	0	1	0	0
PAAF1	80227	broad.mit.edu	37	11	73611337	73611337	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:73611337T>C	uc001ouk.1	+	5	438	c.404T>C	c.(403-405)tTt>tCt	p.F135S	PAAF1_uc001oul.1_Missense_Mutation_p.F118S|PAAF1_uc001oum.1_Missense_Mutation_p.F118S	NM_025155	NP_079431	Q9BRP4	PAAF1_HUMAN	Homo sapiens proteasomal ATPase-associated factor 1 (PAAF1), mRNA.	135					interspecies interaction between organisms	proteasome complex	protein binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Breast(11;7.42e-05)					GGACATGTGTTTGATGTGAAT	0.463000														110			79		0	0	1	0	0
UHRF1BP1L	23074	broad.mit.edu	37	12	100452847	100452847	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:100452847C>T	uc001tgq.3	-	13	2437	c.2208G>A	c.(2206-2208)gaG>gaA	p.E736E	UHRF1BP1L_uc001tgp.3_Silent_p.E386E	NM_015054	NP_055869	A0JNW5	UH1BL_HUMAN	Homo sapiens UHRF1 binding protein 1-like (UHRF1BP1L), transcript variant 1, mRNA.	736										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						CTTTTTGTGACTCTGCATATC	0.408000														72			41		0	0	1	0	0
COL1A2	1278	broad.mit.edu	37	7	94038679	94038679	+	Missense_Mutation	SNP	G	A	A	rs72656387		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:94038679G>A	uc003ung.1	+	16	1309	c.838G>A	c.(838-840)Ggt>Agt	p.G280S	COL1A2_uc011kib.1_Intron	NM_000089	NP_000080	P08123	CO1A2_HUMAN	Homo sapiens collagen, type I, alpha 2 (COL1A2), mRNA.	280					Rho protein signal transduction|axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|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)	TGGTCCCGCCGGTCCCCGTGG	0.473000										HNSCC(75;0.22)				106			35		0	0	1	0	0
TTC5	91875	broad.mit.edu	37	14	20757860	20757860	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:20757860C>A	uc001vwt.3	-	9	1306	c.1249G>T	c.(1249-1251)Gtg>Ttg	p.V417L	TTC5_uc001vwu.3_Missense_Mutation_p.V274L	NM_138376	NP_612385	Q8N0Z6	TTC5_HUMAN	Homo sapiens tetratricopeptide repeat domain 5 (TTC5), mRNA.	417					DNA repair	cytoplasm|nucleus	binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_cancers(95;0.00092)		Epithelial(56;1.1e-06)|all cancers(55;8.07e-06)	GBM - Glioblastoma multiforme(265;0.0106)		CCATTCACCACTAGCAGGAGG	0.512000														14			7		0.00198382	0.00208369	1	1	0
SERPINA11	256394	broad.mit.edu	37	14	94914893	94914893	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:94914893G>T	uc001ydd.1	-	1	279	c.219C>A	c.(217-219)atC>atA	p.I73I		NM_001080451	NP_001073920	Q86U17	SPA11_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11 (SERPINA11), mRNA.	73					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1)	24				COAD - Colon adenocarcinoma(157;0.211)		GCGAGAAGAAGATGTTTCCGG	0.567000														154			11		3.86212e-05	4.23294e-05	1	1	0
HAPLN2	60484	broad.mit.edu	37	1	156593868	156593868	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:156593868C>T	uc001fpn.1	+	3	762	c.355C>T	c.(355-357)Cgc>Tgc	p.R119C	HAPLN2_uc010phq.1_Missense_Mutation_p.R119C	NM_021817	NP_068589	Q9GZV7	HPLN2_HUMAN	Homo sapiens hyaluronan and proteoglycan link protein 2 (HAPLN2), mRNA.	119	Ig-like V-type.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			NS(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	7	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CGCGGGCGTGCGCCTGGAGGA	0.701000														18			13		0	0	1	0	0
SEMA6A	57556	broad.mit.edu	37	5	115837950	115837950	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:115837950G>A	uc003krx.4	-	2	883	c.174C>T	c.(172-174)atC>atT	p.I58I	SEMA6A_uc010jck.3_Silent_p.I58I	NM_020796	NP_065847	Q9H2E6	SEM6A_HUMAN	Homo sapiens sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A (SEMA6A), mRNA.	58	Sema.				apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		TAATCATCTGGATGTCCAGCC	0.507000														74			62		0	0	1	0	0
ICOSLG	23308	broad.mit.edu	37	21	45656874	45656874	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:45656874G>A	uc010gpp.1	-	2	416	c.282C>T	c.(280-282)ggC>ggT	p.G94G	ICOSLG_uc002zef.3_Intron|ICOSLG_uc002zee.3_Silent_p.G94G|ICOSLG_uc011afc.2_Silent_p.G4G	NM_015259	NP_056074	O75144	ICOSL_HUMAN	Homo sapiens inducible T-cell co-stimulator ligand (ICOSLG), mRNA.	94	Ig-like V-type.				B cell activation|T cell activation|T cell costimulation|defense response|hyperosmotic response|positive regulation of activated T cell proliferation|signal transduction		receptor binding			endometrium(2)|lung(1)|stomach(1)|urinary_tract(1)	5				Colorectal(79;0.0163)|READ - Rectum adenocarcinoma(84;0.0772)		GGGAGAAGTCGCCCCGCAGCA	0.607000														44			16		0	0	1	0	0
PXDN	7837	broad.mit.edu	37	2	1642691	1642691	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:1642691T>G	uc002qxa.3	-	20	4197	c.4133A>C	c.(4132-4134)gAt>gCt	p.D1378A		NM_012293	NP_036425	Q92626	PXDN_HUMAN	Homo sapiens peroxidasin homolog (Drosophila) (PXDN), mRNA.	1378					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		CCCAGATGCATCTGAGCGTGT	0.537000														34			23		0	0	1	0	0
TFAP2B	7021	broad.mit.edu	37	6	50807964	50807964	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:50807964G>T	uc003pag.3	+	5	1202	c.1036G>T	c.(1036-1038)Gac>Tac	p.D346Y		NM_003221	NP_003212	Q92481	AP2B_HUMAN	Homo sapiens transcription factor AP-2 beta (activating enhancer binding protein 2 beta) (TFAP2B), mRNA.	346					nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					GCAGCACACAGACCCGAGTGA	0.527000														53			25		7.92952e-12	9.72855e-12	1	1	0
KCNA4	3739	broad.mit.edu	37	11	30033097	30033097	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:30033097C>T	uc021qfi.1	-	0	1129	c.1129G>A	c.(1129-1131)Gtc>Atc	p.V377I	KCNA4_uc001msk.3_Missense_Mutation_p.V377I	NM_002233	NP_002224	P22459	KCNA4_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 4 (KCNA4), mRNA.	377						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						ACAATACAGACTGTTTCCACG	0.453000														64			9		0	0	1	0	0
ZNF827	152485	broad.mit.edu	37	4	146824126	146824126	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:146824126C>A	uc003ikn.3	-	1	333	c.285G>T	c.(283-285)ctG>ctT	p.L95L	ZNF827_uc003ikm.3_Silent_p.L95L|ZNF827_uc010iox.3_Intron	NM_178835	NP_849157	Q17R98	ZN827_HUMAN	Homo sapiens zinc finger protein 827 (ZNF827), mRNA.	95					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					CTTGACACTGCAGTGAGTCTC	0.602000														24			18		0.006122	0.00637105	1	1	0
ARMC12	221481	broad.mit.edu	37	6	35716414	35716414	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:35716414G>A	uc003ola.3	+	5	898	c.871G>A	c.(871-873)Gca>Aca	p.A291T	ARMC12_uc003olb.1_Missense_Mutation_p.A254T	NM_145028	NP_659465	Q5T9G4	CF081_HUMAN	Homo sapiens armadillo repeat containing 12 (ARMC12), mRNA.	264							binding										GGGCCGGAACGCACCCCACTA	0.557000														44			24		0	0	1	0	0
SLC1A7	6512	broad.mit.edu	37	1	53580505	53580505	+	Missense_Mutation	SNP	G	A	A	rs141274422	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:53580505G>A	uc021onn.1	-	2	524	c.356C>T	c.(355-357)gCg>gTg	p.A119V	SLC1A7_uc021onm.1_Intron|SLC1A7_uc001cuy.3_Missense_Mutation_p.A119V|SLC1A7_uc021ono.1_Non-coding_Transcript|SLC1A7_uc001cuz.4_Missense_Mutation_p.A119V|AX748428_uc001cva.1_Non-coding_Transcript	NM_006671	NP_006662	O00341	EAA5_HUMAN	Homo sapiens solute carrier family 1 (glutamate transporter), member 7 (SLC1A7), mRNA.	119						integral to membrane|plasma membrane	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Colorectal(1306;0.234)	L-Glutamic Acid(DB00142)	CTTCTGGGCCGCGCTGCCTGG	0.622000														12			19		0	0	1	0	0
TFDP3	51270	broad.mit.edu	37	X	132351436	132351436	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:132351436G>A	uc004exb.1	-	0	941	c.852C>T	c.(850-852)agC>agT	p.S284S		NM_016521	NP_057605	Q5H9I0	TFDP3_HUMAN	Homo sapiens transcription factor Dp family, member 3 (TFDP3), mRNA.	284	DCB2 (By similarity).|Involved in negatively regulating E2F activity.					transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(1)|lung(8)|ovary(1)|prostate(2)	19	Acute lymphoblastic leukemia(192;0.000127)					TTTCAAAGGAGCTGTTAAACT	0.478000														87			37		0	0	1	0	0
OR2T11	127077	broad.mit.edu	37	1	248789941	248789941	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:248789941G>A	uc001ier.1	-	0	489	c.489C>T	c.(487-489)gtC>gtT	p.V163V		NM_001001964	NP_001001964	Q8NH01	O2T11_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 11 (OR2T11), mRNA.	163					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(5)|lung(20)|skin(2)	28	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)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CACAGTAAGGGACATTCATGG	0.512000														74			6		0	0	1	0	0
C1S	716	broad.mit.edu	37	12	7177275	7177275	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:7177275G>T	uc001qsj.3	+	14	2106	c.1387G>T	c.(1387-1389)Gcg>Tcg	p.A463S	C1S_uc001qsk.3_Missense_Mutation_p.A463S|C1S_uc001qsl.3_Missense_Mutation_p.A463S|C1S_uc009zfr.3_Missense_Mutation_p.A296S|C1S_uc009zfs.3_Non-coding_Transcript	NM_201442	NP_958850	P09871	C1S_HUMAN	Homo sapiens complement component 1, s subcomponent (C1S), transcript variant 1, mRNA.	463	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	GGCTGGTGGAGCGCTCATTAA	0.493000														32			12		2.80697e-09	3.3309e-09	1	1	0
BOC	91653	broad.mit.edu	37	3	113002407	113002407	+	Missense_Mutation	SNP	G	A	A	rs148702312	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:113002407G>A	uc003dzx.3	+	15	3202	c.2581G>A	c.(2581-2583)Gtc>Atc	p.V861I	BOC_uc003dzy.3_Missense_Mutation_p.V861I|BOC_uc003dzz.3_Missense_Mutation_p.V862I|BOC_uc003eab.3_Missense_Mutation_p.V562I|BOC_uc003eac.3_Missense_Mutation_p.V176I	NM_033254	NP_150279	Q9BWV1	BOC_HUMAN	Homo sapiens Boc homolog (mouse) (BOC), mRNA.	861					cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding	p.V861I(2)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			TGTCGGGGTCGTCCTGGGCTC	0.612000														56			27		0	0	1	0	0
CDC37	11140	broad.mit.edu	37	19	10503942	10503942	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10503942A>G	uc002mof.1	-	5	1018	c.902T>C	c.(901-903)cTc>cCc	p.L301P		NM_007065	NP_008996	Q16543	CDC37_HUMAN	Homo sapiens cell division cycle 37 homolog (S. cerevisiae) (CDC37), mRNA.	301					protein targeting|regulation of cyclin-dependent protein kinase activity|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway		unfolded protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	16			OV - Ovarian serous cystadenocarcinoma(20;4.65e-10)|Epithelial(33;6.48e-07)|all cancers(31;2.31e-06)	GBM - Glioblastoma multiforme(1328;0.0318)		CACCTCAGGGAGGGACTCGTA	0.711000														18			3		0	0	1	0	0
KLHDC1	122773	broad.mit.edu	37	14	50218357	50218357	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:50218357C>T	uc001www.3	+	12	1178	c.1088C>T	c.(1087-1089)tCt>tTt	p.S363F	NEMF_uc010anj.1_Intron|KLHDC1_uc010tqg.2_Missense_Mutation_p.S318F|KLHDC1_uc010tqh.2_Missense_Mutation_p.S278F	NM_172193	NP_751943	Q8N7A1	KLDC1_HUMAN	Homo sapiens kelch domain containing 1 (KLHDC1), mRNA.	363						cytoplasm				kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	12	all_epithelial(31;0.00244)|Breast(41;0.00964)					AGTCAGATATCTTTATTACCT	0.333000														19			15		0	0	1	0	0
SLC35B3	51000	broad.mit.edu	37	6	8428253	8428253	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:8428253G>T	uc011did.2	-	3	713	c.336C>A	c.(334-336)ggC>ggA	p.G112G	SLC35B3_uc003myc.3_Non-coding_Transcript|SLC35B3_uc003myd.3_Non-coding_Transcript|SLC35B3_uc010joe.3_Silent_p.G112G|SLC35B3_uc003myb.3_Silent_p.G112G	NM_001142540	NP_057032	Q9H1N7	S35B3_HUMAN	Homo sapiens solute carrier family 35, member B3 (SLC35B3), transcript variant 2, mRNA.	112					transmembrane transport	Golgi membrane|integral to membrane				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(1)|prostate(1)	15	Ovarian(93;0.0569)					TAAGGTACCAGCCACAGGACT	0.378000														105			13		3.27435e-08	3.82583e-08	1	1	0
RALGAPB	57148	broad.mit.edu	37	20	37117086	37117086	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:37117086A>G	uc002xiw.3	+	1	268	c.11A>G	c.(10-12)gAg>gGg	p.E4G	RALGAPB_uc010zvz.1_Missense_Mutation_p.E4G|RALGAPB_uc002xix.3_Missense_Mutation_p.E4G|RALGAPB_uc002xiy.1_Missense_Mutation_p.E4G	NM_020336	NP_065069	Q86X10	RLGPB_HUMAN	Homo sapiens Ral GTPase activating protein, beta subunit (non-catalytic) (RALGAPB), mRNA.	4					activation of Ral GTPase activity	intracellular	Ral GTPase activator activity|protein heterodimerization activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						ATGTACTCTGAGTGGAGGTCA	0.418000														79			13		0	0	1	0	0
ZFX	7543	broad.mit.edu	37	X	24197419	24197419	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:24197419G>A	uc011mjv.2	+	4	544	c.295G>A	c.(295-297)Gat>Aat	p.D99N	ZFX_uc004dbd.2_Missense_Mutation_p.D60N|ZFX_uc004dbf.3_Missense_Mutation_p.D60N|ZFX_uc004dbe.3_Missense_Mutation_p.D60N|ZFX_uc022bua.1_Missense_Mutation_p.D60N|ZFX_uc010nfx.2_Intron|ZFX_uc010nfy.1_Missense_Mutation_p.D60N	NM_001178086	NP_001171557	P17010	ZFX_HUMAN	Homo sapiens zinc finger protein, X-linked (ZFX), transcript variant 4, mRNA.	60					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						TGATGACCCAGATTCAGTTGT	0.388000														138			85		0	0	1	0	0
CRHBP	1393	broad.mit.edu	37	5	76254685	76254685	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:76254685C>A	uc003ker.3	+	4	944	c.664C>A	c.(664-666)Ctg>Atg	p.L222M	CRHBP_uc010izx.3_Missense_Mutation_p.L222M	NM_001882	NP_001873	P24387	CRHBP_HUMAN	Homo sapiens corticotropin releasing hormone binding protein (CRHBP), mRNA.	222					female pregnancy|learning or memory|signal transduction	soluble fraction				kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-51)|Epithelial(54;8.79e-46)|all cancers(79;2.49e-41)		TGATCTTACCCTGGGACACGT	0.413000														39			13		5.50884e-06	6.15991e-06	1	1	0
ECE1	1889	broad.mit.edu	37	1	21551875	21551875	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:21551875C>A	uc001bek.2	-	16	1983	c.1908G>T	c.(1906-1908)gaG>gaT	p.E636D	ECE1_uc001bem.2_Missense_Mutation_p.E620D|ECE1_uc001bej.2_Missense_Mutation_p.E624D|ECE1_uc001bei.2_Missense_Mutation_p.E633D|ECE1_uc010odl.1_Missense_Mutation_p.E636D	NM_001397	NP_001388	P42892	ECE1_HUMAN	Homo sapiens endothelin converting enzyme 1 (ECE1), transcript variant 1, mRNA.	636					bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process	Weibel-Palade body|early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane	metal ion binding|metalloendopeptidase activity|protein homodimerization activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	25		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)		GCTTGAAGGCCTCCACGGATG	0.622000														31			4		0.00909568	0.00940365	1	1	0
AHR	196	broad.mit.edu	37	7	17379003	17379003	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:17379003G>T	uc011jxz.1	+	9	2167	c.1554G>T	c.(1552-1554)caG>caT	p.Q518H		NM_001621	NP_001612	P35869	AHR_HUMAN	Homo sapiens aryl hydrocarbon receptor (AHR), mRNA.	518					apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process	cytosolic aryl hydrocarbon receptor complex|transcription factor complex	Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33	Lung NSC(10;0.0392)|all_lung(11;0.0754)					ACCAGCCTCAGGATGTGAACT	0.393000														109			28		4.22769e-11	5.1512e-11	1	1	0
ABCG8	64241	broad.mit.edu	37	2	44104939	44104939	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:44104939T>C	uc002rtq.3	+	12	1999	c.1909T>C	c.(1909-1911)Tcg>Ccg	p.S637P	ABCG8_uc010yoa.2_Missense_Mutation_p.S636P	NM_022437	NP_071882	Q9H221	ABCG8_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 8 (ABCG8), mRNA.	637	ABC transmembrane type-2.				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				GGAGCTGGACTCGTACCCTCT	0.522000											OREG0014582	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		36			25		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9066603	9066603	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9066603G>A	uc002mkp.3	-	2	21047	c.20843C>T	c.(20842-20844)tCc>tTc	p.S6948F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	6950	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.S6948F(3)|p.S2581F(1)		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						AGGAGTCAAGGAATATGTTGA	0.448000														121			66		0	0	1	0	0
KIAA0355	9710	broad.mit.edu	37	19	34810870	34810870	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:34810870C>T	uc002nvd.4	+	2	1413	c.554C>T	c.(553-555)gCg>gTg	p.A185V		NM_014686	NP_055501	O15063	K0355_HUMAN	Homo sapiens KIAA0355 (KIAA0355), mRNA.	185										breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					TTGACTCATGCGTTACAGAAG	0.527000														114			7		0	0	1	0	0
SORCS2	57537	broad.mit.edu	37	4	7725423	7725423	+	Splice_Site	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:7725423G>T	uc003gkb.4	+	19	2425	c.2425_splice	c.e19-1	p.G809_splice	SORCS2_uc011bwi.2_Splice_Site_p.G637_splice	NM_020777	NP_065828	Q96PQ0	SORC2_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 2 (SORCS2), mRNA.	809	PKD.					integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						TTTCTCTGCAGGGTGATGTCC	0.557000														101			7		0.307466	0.308579	1	1	0
LRRC18	474354	broad.mit.edu	37	10	50122110	50122110	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:50122110G>A	uc001jhd.3	-	0	171	c.91C>T	c.(91-93)Cgc>Tgc	p.R31C	WDFY4_uc001jha.4_Intron|LRRC18_uc001jhe.1_Missense_Mutation_p.R31C	NM_001006939	NP_001006940	Q8N456	LRC18_HUMAN	Homo sapiens leucine rich repeat containing 18 (LRRC18), mRNA.	31			R -> H (in dbSNP:rs17772611).			cytoplasm		p.R31C(2)		NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						AAGTCAAGGCGCTTTTTCCCA	0.478000														39			24		0	0	1	0	0
WDR70	55100	broad.mit.edu	37	5	37703146	37703146	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:37703146G>A	uc003jkv.3	+	12	1431	c.1373G>A	c.(1372-1374)cGt>cAt	p.R458H		NM_018034	NP_060504	Q9NW82	WDR70_HUMAN	Homo sapiens WD repeat domain 70 (WDR70), mRNA.	458										central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TTCTTTGAGCGTAGGACTTTC	0.423000														49			34		0	0	1	0	0
MUC6	4588	broad.mit.edu	37	11	1028756	1028756	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:1028756G>A	uc001lsw.2	-	12	1532	c.1481C>T	c.(1480-1482)tCc>tTc	p.S494F		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	Homo sapiens mucin 6, oligomeric mucus/gel-forming (MUC6), mRNA.	494	VWFD 2.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|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;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GAGGTGGGTGGACGTCTGCCT	0.657000														14			7		0	0	1	0	0
UNC13A	23025	broad.mit.edu	37	19	17753751	17753751	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:17753751G>A	uc021uqk.1	-	19	2414	c.2372C>T	c.(2371-2373)tCt>tTt	p.S791F		NM_001080421	NP_001073890	Q9UPW8	UN13A_HUMAN	Homo sapiens unc-13 homolog A (C. elegans) (UNC13A), mRNA.	792					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						CGACACGGCAGATTTGTCAGT	0.507000														9			3		0	0	1	0	0
MST1	4485	broad.mit.edu	37	3	49725255	49725255	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49725255G>A	uc003cxg.3	-	1	242	c.170C>T	c.(169-171)cCc>cTc	p.P57L	MST1_uc011bcs.1_Missense_Mutation_p.P57L|MST1_uc010hkx.2_5'UTR|MST1_uc011bct.1_Missense_Mutation_p.P57L|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.	43	PAN.				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)		CCAAGGCCCGGGCACCACCGC	0.612000														16			12		0	0	1	0	0
DNM2	1785	broad.mit.edu	37	19	10886449	10886449	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10886449C>T	uc002mpt.2	+	3	646	c.456C>T	c.(454-456)atC>atT	p.I152I	DNM2_uc010dxk.2_Non-coding_Transcript|DNM2_uc002mps.2_Silent_p.I152I|DNM2_uc010dxl.2_Silent_p.I152I|DNM2_uc002mpu.2_Silent_p.I152I|DNM2_uc002mpv.2_Silent_p.I152I	NM_001005360	NP_001005360	P50570	DYN2_HUMAN	Homo sapiens dynamin 2 (DNM2), transcript variant 1, mRNA.	152					G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	Golgi membrane|cell junction|cytosol|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			CTCCAGACATCGAGTACCAGA	0.582000			"""F, N, Splice, Mis, O"""		ETP ALL									154			9		0	0	1	0	0
SETD1A	9739	broad.mit.edu	37	16	30976233	30976233	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:30976233G>T	uc002ead.1	+	6	1856	c.1170G>T	c.(1168-1170)gaG>gaT	p.E390D		NM_014712	NP_055527	O15047	SET1A_HUMAN	Homo sapiens SET domain containing 1A (SETD1A), mRNA.	390	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	Set1C/COMPASS complex|chromosome|nuclear speck	RNA binding|histone-lysine N-methyltransferase activity|nucleotide binding|protein binding	p.R389L(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						CCACACGGGAGGAACCCCCTG	0.592000														144			62		2.17656e-39	2.89226e-39	1	1	0
SYT3	84258	broad.mit.edu	37	19	51132654	51132654	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:51132654G>A	uc002pst.3	-	3	1812	c.1178C>T	c.(1177-1179)tCg>tTg	p.S393L	SYT3_uc002psv.3_Missense_Mutation_p.S393L|SYT3_uc010ycd.2_Missense_Mutation_p.S393L	NM_032298	NP_115674	Q9BQG1	SYT3_HUMAN	Homo sapiens synaptotagmin III (SYT3), transcript variant 1, mRNA.	393	C2 1.					cell junction|endosome|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	p.S393L(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		GTCGTGCCGCGAGAAGCGGTC	0.637000														19			10		0	0	1	0	0
DLG4	1742	broad.mit.edu	37	17	7100196	7100196	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7100196C>T	uc010vtn.2	-	7	1043	c.783G>A	c.(781-783)acG>acA	p.T261T	DLG4_uc010vtm.2_Non-coding_Transcript|DLG4_uc010cly.3_Silent_p.T318T|DLG4_uc002get.4_Silent_p.T364T|DLG4_uc010vto.2_Silent_p.T361T	NM_001128827	NP_001122299	P78352	DLG4_HUMAN	Homo sapiens discs, large homolog 4 (Drosophila) (DLG4), transcript variant 2, mRNA.	321					axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission	cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome	protein C-terminus binding|protein binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18						AGCCCAGGCCCGTGGAGCCCC	0.642000														14			7		0	0	1	0	0
GMPR2	51292	broad.mit.edu	37	14	24705324	24705324	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:24705324G>A	uc001wnr.3	+	4	825	c.443G>A	c.(442-444)cGc>cAc	p.R148H	GMPR2_uc001wnu.2_Missense_Mutation_p.R112H|GMPR2_uc001wns.3_Missense_Mutation_p.R148H|GMPR2_uc001wnv.3_5'UTR|GMPR2_uc010alk.1_Missense_Mutation_p.R148H|GMPR2_uc001wnw.3_Missense_Mutation_p.R148H|GMPR2_uc001wnx.3_Missense_Mutation_p.R166H|GMPR2_uc010all.3_Missense_Mutation_p.R120H|GMPR2_uc010toe.1_Missense_Mutation_p.R148H	NM_001002001	NP_001002002	Q9P2T1	GMPR2_HUMAN	Homo sapiens guanosine monophosphate reductase 2 (GMPR2), transcript variant 3, mRNA.	148					nucleotide metabolic process|purine base metabolic process|purine-containing compound salvage	cytosol	GMP reductase activity|metal ion binding			large_intestine(4)|lung(3)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(265;0.0181)		GTACGGAAGCGCTTCCCCCAG	0.438000														60			36		0	0	1	0	0
ACACA	31	broad.mit.edu	37	17	35563703	35563703	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:35563703C>A	uc002hnm.3	-	31	4022	c.3831G>T	c.(3829-3831)gaG>gaT	p.E1277D	ACACA_uc002hnk.3_Missense_Mutation_p.E1199D|ACACA_uc002hnl.3_Missense_Mutation_p.E1219D|ACACA_uc002hnn.3_Missense_Mutation_p.E1277D|ACACA_uc002hno.3_Missense_Mutation_p.E1314D|ACACA_uc010cuy.3_5'Flank	NM_198836	NP_942135	Q13085	ACACA_HUMAN	Homo sapiens acetyl-CoA carboxylase alpha (ACACA), transcript variant 3, mRNA.	1277					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	ATP binding|acetyl-CoA carboxylase activity|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	ATACCTTATCCTCATCATAAA	0.438000														44			5		0.184627	0.186034	1	1	0
KIAA1522	57648	broad.mit.edu	37	1	33236827	33236827	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:33236827G>T	uc001bvu.1	+	5	2091	c.2047G>T	c.(2047-2049)Gct>Tct	p.A683S	KIAA1522_uc010ohm.1_Missense_Mutation_p.A635S|KIAA1522_uc001bvv.2_Missense_Mutation_p.A624S|KIAA1522_uc010ohn.1_Intron	NM_020888	NP_065939	Q9P206	K1522_HUMAN	Homo sapiens KIAA1522 (KIAA1522), transcript variant 1, mRNA.	624	Pro-rich.									breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				CCCTAACCCAGCTGCCCCTGC	0.632000														44			21		8.04996e-18	1.02859e-17	1	1	0
FOXN4	121643	broad.mit.edu	37	12	109719350	109719350	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:109719350C>T	uc001toe.4	-	8	1261	c.1156G>A	c.(1156-1158)Gcc>Acc	p.A386T	FOXN4_uc009zvg.3_Missense_Mutation_p.A183T|FOXN4_uc001tof.4_Missense_Mutation_p.A206T	NM_213596	NP_998761	Q96NZ1	FOXN4_HUMAN	Homo sapiens forkhead box N4 (FOXN4), mRNA.	386					axon extension|embryo development|organ development|pattern specification process|regulation of heart contraction|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA 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			large_intestine(5)|lung(9)|ovary(2)	16						TCCGGCAGGGCGTGCAGTGGC	0.657000														11			3		0	0	1	0	0
ATP6V1E2	90423	broad.mit.edu	37	2	46739186	46739186	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:46739186C>A	uc021vgv.1	-	0	665	c.665G>T	c.(664-666)aGa>aTa	p.R222I	ATP6V1E2_uc002ruy.3_Missense_Mutation_p.R222I	NM_080653	NP_542384	Q96A05	VATE2_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E2 (ATP6V1E2), mRNA.	222					cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting two-sector ATPase complex, catalytic domain	proton-transporting ATPase activity, rotational mechanism			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)	13		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.151)			AAAGAACTTTCTGTTGGTGTT	0.393000														48			26		2.12542e-12	2.62166e-12	1	1	0
ICA1	3382	broad.mit.edu	37	7	8167563	8167563	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:8167563C>A	uc003sro.4	-	12	1406	c.1270G>T	c.(1270-1272)Ggt>Tgt	p.G424C	ICA1_uc010ktr.3_Missense_Mutation_p.G453C|ICA1_uc003srm.3_Missense_Mutation_p.G424C|ICA1_uc003srn.4_Missense_Mutation_p.G350C|ICA1_uc003srq.3_Missense_Mutation_p.G424C|ICA1_uc003srr.3_Missense_Mutation_p.G423C|ICA1_uc010kts.3_Non-coding_Transcript	NM_001136020	NP_071682	Q05084	ICA69_HUMAN	Homo sapiens islet cell autoantigen 1, 69kDa (ICA1), mRNA.	424					neurotransmitter transport	Golgi membrane|cell junction|cytosol|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	23		Ovarian(82;0.0612)		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)		GGAAGGAAACCTGAGCCTGTC	0.527000														154			59		5.73376e-24	7.47982e-24	1	1	0
EPHX1	2052	broad.mit.edu	37	1	226026412	226026412	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:226026412C>T	uc001hpk.3	+	3	502	c.422C>T	c.(421-423)cCg>cTg	p.P141L	EPHX1_uc001hpl.3_Missense_Mutation_p.P141L	NM_001136018	NP_001129490	P07099	HYEP_HUMAN	Homo sapiens epoxide hydrolase 1, microsomal (xenobiotic) (EPHX1), transcript variant 2, mRNA.	141					aromatic compound catabolic process|response to toxin	endoplasmic reticulum membrane|integral to membrane|microsome	cis-stilbene-oxide hydrolase activity|epoxide hydrolase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.197)					GGCCATACCCCGAAGCCCTTG	0.602000														104			34		0	0	1	0	0
GLI3	2737	broad.mit.edu	37	7	42004149	42004149	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:42004149C>T	uc011kbh.2	-	14	4613	c.4522G>A	c.(4522-4524)Gcc>Acc	p.A1508T	GLI3_uc011kbg.2_Missense_Mutation_p.A1449T	NM_000168	NP_000159	P10071	GLI3_HUMAN	Homo sapiens GLI family zinc finger 3 (GLI3), mRNA.	1508	Asp/Glu-rich (acidic).				negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						TCTATGATGGCATCGAAGTCA	0.552000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly					33			30		0	0	1	0	0
NOS3	4846	broad.mit.edu	37	7	150698337	150698337	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:150698337G>A	uc003wif.3	+	10	1548	c.1252G>A	c.(1252-1254)Gtg>Atg	p.V418M	NOS3_uc011kuy.2_Missense_Mutation_p.V212M|NOS3_uc011kva.2_Missense_Mutation_p.V418M|NOS3_uc011kuz.2_Missense_Mutation_p.V418M|NOS3_uc011kvb.2_Missense_Mutation_p.V418M	NM_000603	NP_000594	P29474	NOS3_HUMAN	Homo sapiens nitric oxide synthase 3 (endothelial cell) (NOS3), transcript variant 1, mRNA.	418	Interaction with NOSIP.				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	Golgi membrane|caveola|cytoskeleton|cytosol	FMN binding|NADP binding|actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	AGTCACCATCGTGGACCACCA	0.637000														57			70		0	0	1	0	0
DOT1L	84444	broad.mit.edu	37	19	2216561	2216561	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:2216561G>A	uc002lvc.1	+	5	854	c.87G>A	c.(85-87)acG>acA	p.T29T	DOT1L_uc002lvb.4_Silent_p.T735T|AX746733_uc002lvd.1_5'Flank|DOT1L_uc002lve.1_Silent_p.T29T	NM_032482	NP_115871	Q8TEK3	DOT1L_HUMAN	Homo sapiens DOT1-like, histone H3 methyltransferase (S. cerevisiae) (DOT1L), mRNA.	735						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCAGAACACGCCCCAGTACC	0.667000														29			25		0	0	1	0	0
CACHD1	57685	broad.mit.edu	37	1	65141176	65141176	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:65141176C>T	uc001dbo.1	+	19	2772	c.2667C>T	c.(2665-2667)aaC>aaT	p.N889N	CACHD1_uc001dbp.1_Silent_p.N644N|CACHD1_uc001dbq.1_Silent_p.N644N|CACHD1_uc010opa.1_Silent_p.N133N	NM_020925	NP_065976	Q5VU97	CAHD1_HUMAN	Homo sapiens cache domain containing 1 (CACHD1), mRNA.	940					calcium ion transport	integral to membrane				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						GCATTGTCAACGAAACCTGCG	0.493000											OREG0013544	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		66			44		0	0	1	0	0
ATN1	1822	broad.mit.edu	37	12	7045646	7045646	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:7045646C>T	uc001qrw.1	+	4	1453	c.1216C>T	c.(1216-1218)Ccc>Tcc	p.P406S	ATN1_uc001qrx.1_Missense_Mutation_p.P406S|ATN1_uc001qry.1_Missense_Mutation_p.P405S	NM_001007026	NP_001931	P54259	ATN1_HUMAN	Homo sapiens atrophin 1 (ATN1), transcript variant 1, mRNA.	406					cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						CCAGGCATTGCCCAGCTACCC	0.567000														11			12		0	0	1	0	0
SEC23A	10484	broad.mit.edu	37	14	39565205	39565205	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:39565205C>A	uc001wup.1	-	1	341	c.118G>T	c.(118-120)Gcc>Tcc	p.A40S	SEC23A_uc010tqa.1_Intron|SEC23A_uc010tqb.1_Missense_Mutation_p.A40S	NM_006364	NP_006355	Q15436	SC23A_HUMAN	Homo sapiens Sec23 homolog A (S. cerevisiae) (SEC23A), mRNA.	40					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|Golgi membrane|cytosol|smooth endoplasmic reticulum membrane	protein binding|zinc ion binding			kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1)	23	Hepatocellular(127;0.213)		Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)		GTAAACAGGGCTGCCACAGGA	0.433000														72			10		0.361761	0.362901	1	1	0
AFF2	2334	broad.mit.edu	37	X	148035176	148035176	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:148035176C>T	uc004fcp.3	+	9	1943	c.1464C>T	c.(1462-1464)agC>agT	p.S488S	AFF2_uc004fcq.3_Silent_p.S478S|AFF2_uc004fcr.3_Silent_p.S449S|AFF2_uc011mxb.2_Silent_p.S453S|AFF2_uc004fcs.3_Silent_p.S455S|AFF2_uc011mxc.2_Silent_p.S129S	NM_002025	NP_002016	P51816	AFF2_HUMAN	Homo sapiens AF4/FMR2 family, member 2 (AFF2), transcript variant 1, mRNA.	488					RNA splicing|brain development|mRNA processing|regulation of RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					GCAGCTCCAGCGAATCGGAGA	0.552000														75			51		0	0	1	0	0
UBR4	23352	broad.mit.edu	37	1	19446192	19446192	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:19446192A>C	uc001bbi.3	-	69	10318	c.10314T>G	c.(10312-10314)aaT>aaG	p.N3438K	UBR4_uc001bbj.1_5'Flank	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 4 (UBR4), mRNA.	3438					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		ATTTGCTGGAATTTCTGTGGA	0.488000														31			20		0	0	1	0	0
BRD2	6046	broad.mit.edu	37	6	32945321	32945321	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:32945321G>A	uc010juh.3	+	6	2607	c.1303G>A	c.(1303-1305)Gtt>Att	p.V435I	BRD2_uc003ocn.4_Missense_Mutation_p.V435I|BRD2_uc003oco.3_Non-coding_Transcript|BRD2_uc003ocp.4_Missense_Mutation_p.V315I|BRD2_uc003ocq.4_Missense_Mutation_p.V435I|BRD2_uc021ywf.1_Missense_Mutation_p.V388I	NM_001199455	NP_001186384	P25440	BRD2_HUMAN	Homo sapiens bromodomain containing 2 (BRD2), transcript variant 3, mRNA.	435	Bromo 2.				spermatogenesis	nucleus	protein serine/threonine kinase activity			central_nervous_system(3)|stomach(2)	5						AGATCACGATGTTGTGGCAAT	0.458000														90			59		0	0	1	0	0
NUFIP1	26747	broad.mit.edu	37	13	45533519	45533519	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:45533519A>G	uc001uzp.2	-	6	1060	c.1018T>C	c.(1018-1020)Tct>Cct	p.S340P		NM_012345	NP_036477	Q9UHK0	NUFP1_HUMAN	Homo sapiens nuclear fragile X mental retardation protein interacting protein 1 (NUFIP1), mRNA.	340					RNA processing|box C/D snoRNP assembly|positive regulation of transcription from RNA polymerase II promoter	actin cytoskeleton|cytosolic ribosome|nuclear matrix|nucleolus|perichromatin fibrils|pre-snoRNP complex|presynaptic active zone|transcription elongation factor complex	DNA binding|RNA binding|identical protein binding|protein binding, bridging|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(4)|skin(3)	18		Lung NSC(96;8.23e-05)|Breast(139;0.00378)|Prostate(109;0.0107)|all_hematologic(4;0.014)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)|Acute lymphoblastic leukemia(4;0.143)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000306)|BRCA - Breast invasive adenocarcinoma(63;0.125)		AGCTTACCAGAATCACTGTTT	0.393000														61			6		0	0	1	0	0
C2orf63	130162	broad.mit.edu	37	2	55408813	55408813	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:55408813A>G	uc002ryi.2	-	9	1420	c.1074T>C	c.(1072-1074)agT>agC	p.S358S	C2orf63_uc002ryh.2_5'UTR|C2orf63_uc002ryj.2_Silent_p.S236S	NM_152385	NP_001129070	Q8NHS4	CB063_HUMAN	Homo sapiens chromosome 2 open reading frame 63 (C2orf63), transcript variant 1, mRNA.	358							binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20			LUSC - Lung squamous cell carcinoma(58;0.179)|Lung(47;0.189)			GAAAAGCATGACTTGTGATAA	0.373000														32			19		0	0	1	0	0
CALML3	810	broad.mit.edu	37	10	5567216	5567216	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:5567216C>T	uc001iie.1	+	0	293	c.168C>T	c.(166-168)atC>atT	p.I56I	AK128534_uc001iid.1_5'Flank	NM_005185	NP_005176	P27482	CALL3_HUMAN	Homo sapiens calmodulin-like 3 (CALML3), mRNA.	56	EF-hand 2.						calcium ion binding			endometrium(3)|lung(2)	5						TGAGTGAGATCGACCGGGACG	0.657000														15			6		0	0	1	0	0
TLL1	7092	broad.mit.edu	37	4	166999172	166999172	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:166999172G>A	uc003irh.2	+	17	3079	c.2432G>A	c.(2431-2433)cGa>cAa	p.R811Q	TLL1_uc011cjn.2_Missense_Mutation_p.R834Q|TLL1_uc011cjo.2_Missense_Mutation_p.R635Q	NM_012464	NP_036596	O43897	TLL1_HUMAN	Homo sapiens tolloid-like 1 (TLL1), transcript variant 1, mRNA.	811	CUB 4.				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.R811Q(2)		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)		CCTGGCCACCGAATCAAATTA	0.458000														21			9		0	0	1	0	0
ENY2	56943	broad.mit.edu	37	8	110348394	110348394	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:110348394C>T	uc003ynd.3	+	1	190	c.44C>T	c.(43-45)gCg>gTg	p.A15V	NUDCD1_uc003ynb.4_5'Flank|NUDCD1_uc010mcl.3_5'Flank|ENY2_uc003ync.3_Missense_Mutation_p.A10V|ENY2_uc022azt.1_Non-coding_Transcript|ENY2_uc022azu.1_Non-coding_Transcript	NM_020189	NP_001180486	Q9NPA8	ENY2_HUMAN	Homo sapiens enhancer of yellow 2 homolog (Drosophila) (ENY2), transcript variant 1, mRNA.	15					histone deubiquitination|mRNA transport|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity			endometrium(2)|large_intestine(1)|lung(1)	4	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;9.05e-13)			ATGAGAGCAGCGATTAACCAA	0.348000														17			5		0	0	1	0	0
PLXNB3	5365	broad.mit.edu	37	X	153037030	153037030	+	Missense_Mutation	SNP	G	A	A	rs144601801	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153037030G>A	uc010nuk.2	+	14	2777	c.2506G>A	c.(2506-2508)Ggc>Agc	p.G836S	PLXNB3_uc011mzb.1_Intron|PLXNB3_uc011mzc.2_Missense_Mutation_p.G495S|PLXNB3_uc004fii.2_Missense_Mutation_p.G813S|PLXNB3_uc011mzd.1_Missense_Mutation_p.G452S|PLXNB3_uc004fij.1_5'Flank	NM_001163257	NP_001156729	Q9ULL4	PLXB3_HUMAN	Homo sapiens plexin B3 (PLXNB3), transcript variant 2, mRNA.	813	IPT/TIG 1.				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity	p.S836N(1)		central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					GTGTGCTGACGGCCAGCCTGC	0.682000														14			8		0	0	1	0	0
EAF1	85403	broad.mit.edu	37	3	15478058	15478058	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:15478058A>C	uc003bzu.3	+	4	959	c.736A>C	c.(736-738)Agc>Cgc	p.S246R	EAF1_uc011avq.2_Missense_Mutation_p.S145R	NM_033083	NP_149074	Q96JC9	EAF1_HUMAN	Homo sapiens ELL associated factor 1 (EAF1), mRNA.	246	Necessary for transactivation activity.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cajal body|nuclear speck	protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1)	7						GCCACAAGGAAGCAACCAGCT	0.547000														20			14		0	0	1	0	0
PMEL	6490	broad.mit.edu	37	12	56351340	56351340	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56351340G>T	uc001sir.3	-	5	1410	c.747C>A	c.(745-747)ggC>ggA	p.G249G	PMEL_uc001siq.3_Silent_p.G249G|PMEL_uc010spx.2_Silent_p.G163G|PMEL_uc001sip.3_Silent_p.G249G	NM_006928	NP_008859	P40967	PMEL_HUMAN	Homo sapiens premelanosome protein (PMEL), transcript variant 3, mRNA.	249					melanin biosynthetic process|melanosome organization	Golgi apparatus|endoplasmic reticulum membrane|extracellular region|integral to membrane|melanosome|multivesicular body membrane|plasma membrane	protein binding			NS(1)|breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CAGCCAGATAGCCACTGGGGT	0.567000														86			52		6.3008e-33	8.33337e-33	1	1	0
ANKRD49	54851	broad.mit.edu	37	11	94231653	94231653	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:94231653C>A	uc001pew.3	+	2	814	c.675C>A	c.(673-675)ctC>ctA	p.L225L	ANKRD49_uc001pex.3_3'UTR|ANKRD49_uc001pey.3_Non-coding_Transcript	NM_017704	NP_060174	Q8WVL7	ANR49_HUMAN	Homo sapiens ankyrin repeat domain 49 (ANKRD49), mRNA.	225					positive regulation of transcription, DNA-dependent					autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|urinary_tract(1)	12		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				ATCACTACCTCTTTGAAATTG	0.398000														106			9		9.70103e-10	1.16071e-09	1	1	0
PTPRM	5797	broad.mit.edu	37	18	7888151	7888151	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:7888151G>A	uc002knn.4	+	2	747	c.244G>A	c.(244-246)Gcc>Acc	p.A82T	PTPRM_uc010dkv.3_Missense_Mutation_p.A82T	NM_002845	NP_002836	P28827	PTPRM_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, M (PTPRM), transcript variant 2, mRNA.	82	MAM.				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				GGGGCAGAGAGCCCACCTGCT	0.458000														128			59		0	0	1	0	0
MKI67	4288	broad.mit.edu	37	10	129908731	129908731	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:129908731G>A	uc001lke.3	-	11	2522	c.2327C>T	c.(2326-2328)gCt>gTt	p.A776V	MKI67_uc001lkf.3_Missense_Mutation_p.A416V|MKI67_uc009yav.1_Missense_Mutation_p.A351V|MKI67_uc009yaw.1_Intron	NM_002417	NP_002408	P46013	KI67_HUMAN	Homo sapiens antigen identified by monoclonal antibody Ki-67 (MKI67), transcript variant 1, mRNA.	776					cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				ATTTGAAATAGCGATGTGACA	0.408000														85			40		0	0	1	0	0
RAB1B	81876	broad.mit.edu	37	11	66039663	66039663	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:66039663C>T	uc001ohf.3	+	2	218	c.123C>T	c.(121-123)atC>atT	p.I41I	AK125412_uc001ohg.1_Non-coding_Transcript	NM_030981	NP_112243	Q9H0U4	RAB1B_HUMAN	Homo sapiens RAB1B, member RAS oncogene family (RAB1B), mRNA.	41					protein transport|small GTPase mediated signal transduction	Golgi apparatus|membrane	GTP binding|protein binding			large_intestine(2)|lung(1)|ovary(1)|prostate(1)	5						TCAGCACCATCGGGGTGGACT	0.502000														126			63		0	0	1	0	0
COL24A1	255631	broad.mit.edu	37	1	86304298	86304298	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:86304298C>T	uc001dlj.3	-	42	3726	c.3651G>A	c.(3649-3651)gaG>gaA	p.E1217E	COL24A1_uc001dli.3_Silent_p.E353E|COL24A1_uc010osf.2_Non-coding_Transcript|COL24A1_uc010osd.2_Silent_p.E517E|COL24A1_uc001dlk.3_Non-coding_Transcript|COL24A1_uc010ose.2_Non-coding_Transcript	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN	Homo sapiens collagen, type XXIV, alpha 1 (COL24A1), mRNA.	1217	Collagen-like 13.				cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		GCTCTCCTCTCTCTCCTTGGT	0.418000														155			7		0	0	1	0	0
EEF2	1938	broad.mit.edu	37	19	3980680	3980680	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:3980680G>T	uc002lze.3	-	8	1261	c.1178C>A	c.(1177-1179)cCt>cAt	p.P393H		NM_001961	NP_001952	P13639	EF2_HUMAN	Homo sapiens eukaryotic translation elongation factor 2 (EEF2), mRNA.	393						cytosol|ribonucleoprotein complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		CATCATAAGAGGGCCTTTGGG	0.527000														20			9		6.40141e-05	6.99953e-05	1	1	0
TMEM132D	121256	broad.mit.edu	37	12	130184368	130184368	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:130184368G>A	uc009zyl.1	-	1	1283	c.955C>T	c.(955-957)Cgc>Tgc	p.R319C		NM_133448	NP_597705	Q14C87	T132D_HUMAN	Homo sapiens transmembrane protein 132D (TMEM132D), mRNA.	319						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		AACGTGAAGCGATCTTCAGTG	0.483000														24			14		0	0	1	0	0
CANX	821	broad.mit.edu	37	5	179143190	179143190	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:179143190C>A	uc011dgp.2	+	7	986	c.911C>A	c.(910-912)cCt>cAt	p.P304H	CANX_uc010jlb.1_Missense_Mutation_p.P205H|CANX_uc003mkk.3_Missense_Mutation_p.P269H|CANX_uc003mkl.3_Missense_Mutation_p.P269H|CANX_uc011dgq.2_Missense_Mutation_p.P161H	NM_001746	NP_001737	P27824	CALX_HUMAN	Homo sapiens calnexin (CANX), transcript variant 1, mRNA.	269	4 X approximate repeats.|P domain (Extended arm) (By similarity).				post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding|protein secretion	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane|melanosome	calcium ion binding|sugar binding|unfolded protein binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|prostate(2)|urinary_tract(3)	22	all_cancers(89;0.000129)|all_epithelial(37;5.59e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0413)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031)	ATGACTCCTCCTGTAAATCCT	0.423000														99			7		0.00307968	0.00322291	1	1	0
FHOD1	29109	broad.mit.edu	37	16	67272337	67272337	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:67272337G>A	uc002esl.3	-	3	499	c.387C>T	c.(385-387)agC>agT	p.S129S	FHOD1_uc010ced.3_5'UTR|FHOD1_uc010vjh.1_5'UTR	NM_013241	NP_037373	Q9Y613	FHOD1_HUMAN	Homo sapiens formin homology 2 domain containing 1 (FHOD1), mRNA.	129	GBD/FH3.				actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		GACCACTGGAGCTATACAGCT	0.532000														9			11		0	0	1	0	0
FNDC3A	22862	broad.mit.edu	37	13	49749565	49749565	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:49749565C>A	uc001vcm.3	+	12	1723	c.1418C>A	c.(1417-1419)cCt>cAt	p.P473H	FNDC3A_uc001vcn.3_Missense_Mutation_p.P473H|FNDC3A_uc001vco.3_Non-coding_Transcript|FNDC3A_uc001vcp.1_Missense_Mutation_p.P399H|FNDC3A_uc001vcq.3_Missense_Mutation_p.P417H	NM_001079673	NP_001073141	Q9Y2H6	FND3A_HUMAN	Homo sapiens fibronectin type III domain containing 3A (FNDC3A), transcript variant 1, mRNA.	473	Fibronectin type-III 3.					Golgi membrane|integral to membrane				endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		CCAGCAAGTCCTGTATTAACC	0.388000														48			5		1.024e-07	1.18895e-07	1	1	0
GBX2	2637	broad.mit.edu	37	2	237074680	237074680	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:237074680G>A	uc002vvw.1	-	1	962	c.924C>T	c.(922-924)ggC>ggT	p.G308G	GBX2_uc010zng.1_3'UTR	NM_001485	NP_001476	P52951	GBX2_HUMAN	Homo sapiens gastrulation brain homeobox 2 (GBX2), mRNA.	308						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7		Breast(86;0.00235)|Renal(207;0.00339)|all_hematologic(139;0.00357)|all_lung(227;0.0616)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|Lung NSC(271;0.179)		Epithelial(121;4.5e-25)|OV - Ovarian serous cystadenocarcinoma(60;5.16e-11)|BRCA - Breast invasive adenocarcinoma(100;3.4e-05)|Lung(119;0.00195)|LUSC - Lung squamous cell carcinoma(224;0.00471)		AATTGGCATTGCCTGCCTTCA	0.597000														45			32		0	0	1	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18777290	18777290	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:18777290C>T	uc003zne.4	+	18	3215	c.3063C>T	c.(3061-3063)taC>taT	p.Y1021Y		NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN	Homo sapiens ADAMTS-like 1 (ADAMTSL1), transcript variant 4, mRNA.	1021						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)		GGAGCCGCTACGACGACCTCG	0.692000														2			6		0	0	1	0	0
PLEKHA8P1	51054	broad.mit.edu	37	12	45567556	45567556	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:45567556G>A	uc001rom.2	-	2	1130	c.593C>T	c.(592-594)aCc>aTc	p.T198I						Homo sapiens pleckstrin homology domain containing, family A member 8 pseudogene 1 (PLEKHA8P1), non-coding RNA.											breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						TGTGTTCATGGTACTAAAGAA	0.433000														112			61		0	0	1	0	0
LRRC41	10489	broad.mit.edu	37	1	46764040	46764040	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:46764040G>T	uc001cpn.3	-	1	246	c.202C>A	c.(202-204)Ctc>Atc	p.L68I	LRRC41_uc010omb.2_Missense_Mutation_p.L68I|LRRC41_uc001cpo.1_Missense_Mutation_p.L68I	NM_006369	NP_006360	Q15345	LRC41_HUMAN	Homo sapiens leucine rich repeat containing 41 (LRRC41), mRNA.	68										breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					GGGCCTGGGAGGGCTACAAAA	0.423000														26			20		3.51602e-12	4.32762e-12	1	1	0
ELF2	1998	broad.mit.edu	37	4	139981791	139981791	+	Nonsense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:139981791C>A	uc003ihp.1	-	7	1059	c.808G>T	c.(808-810)Gga>Tga	p.G270*	ELF2_uc003ihm.1_Nonsense_Mutation_p.G222*|ELF2_uc003ihn.1_Nonsense_Mutation_p.G210*|ELF2_uc003iho.1_Nonsense_Mutation_p.G193*|ELF2_uc011chc.1_Nonsense_Mutation_p.G85*	NM_201999	NP_973728	Q15723	ELF2_HUMAN	Homo sapiens E74-like factor 2 (ets domain transcription factor) (ELF2), transcript variant 1, mRNA.	282					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	19	all_hematologic(180;0.162)					AGCCTCTGTCCTTCAACCTTT	0.398000														83			44		1.30409e-13	1.62501e-13	1	1	0
TAOK2	9344	broad.mit.edu	37	16	29998656	29998656	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:29998656C>A	uc010bzm.2	+	14	3119	c.3084C>A	c.(3082-3084)gcC>gcA	p.A1028A	BOLA2_uc010bzb.1_Intron|TAOK2_uc002dvb.2_Intron|TAOK2_uc021tgf.1_Silent_p.A908A|TAOK2_uc002dva.2_Silent_p.A1021A|TAOK2_uc002dvc.2_Intron|TAOK2_uc002dvd.2_Silent_p.A848A	NM_016151	NP_057235	Q9UL54	TAOK2_HUMAN	Homo sapiens TAO kinase 2 (TAOK2), transcript variant 1, mRNA.	1021	Leu-rich.				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						TACTCCTGGCCCAGGGTACCG	0.677000														22			3		0.150653	0.152248	1	1	0
WNK3	65267	broad.mit.edu	37	X	54321078	54321078	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:54321078G>A	uc004dtc.2	-	7	2040	c.1601C>T	c.(1600-1602)aCt>aTt	p.T534I	WNK3_uc004dtd.2_Missense_Mutation_p.T534I	NM_020922	NP_065973	Q9BYP7	WNK3_HUMAN	Homo sapiens WNK lysine deficient protein kinase 3 (WNK3), transcript variant 1, mRNA.	534					intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						TTCAGCCCCAGTTTGCTGAGC	0.473000														19			12		0	0	1	0	0
TEX15	56154	broad.mit.edu	37	8	30701743	30701743	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:30701743G>A	uc003xil.3	-	0	4791	c.4791C>T	c.(4789-4791)taC>taT	p.Y1597Y		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	Homo sapiens testis expressed 15 (TEX15), mRNA.	1597										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)		AATCACTCACGTATGACGCAG	0.403000														66			55		0	0	1	0	0
ODF3L2	284451	broad.mit.edu	37	19	463999	463999	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:463999C>T	uc002lor.3	-	3	951	c.715G>A	c.(715-717)Ggc>Agc	p.G239S	ODF3L2_uc010drp.3_Missense_Mutation_p.G203S	NM_182577	NP_872383	Q3SX64	OD3L2_HUMAN	Homo sapiens outer dense fiber of sperm tails 3-like 2 (ODF3L2), mRNA.	239	Pro-rich.									large_intestine(1)|lung(2)	3						GCGCCAGGGCCGGGGGTCTCC	0.701000														7			6		0	0	1	0	0
OPA1	4976	broad.mit.edu	37	3	193361390	193361390	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:193361390C>A	uc003ftg.3	+	14	1685	c.1451C>A	c.(1450-1452)cCt>cAt	p.P484H	OPA1_uc003fth.3_Missense_Mutation_p.P448H|OPA1_uc003fti.3_Missense_Mutation_p.P466H|OPA1_uc003ftj.3_Missense_Mutation_p.P447H|OPA1_uc003ftk.3_Missense_Mutation_p.P430H|OPA1_uc003ftl.3_Missense_Mutation_p.P411H|OPA1_uc003ftm.3_Missense_Mutation_p.P429H|OPA1_uc003ftn.3_Missense_Mutation_p.P393H	NM_130837	NP_570850	O60313	OPA1_HUMAN	Homo sapiens optic atrophy 1 (autosomal dominant) (OPA1), nuclear gene encoding mitochondrial protein, transcript variant 8, mRNA.	429					apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception	dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane	GTP binding|GTPase activity|magnesium ion binding|protein binding			breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		ATGCAGAATCCTAATGCCATC	0.328000														49			5		5.9392e-07	6.7814e-07	1	1	0
GAST	2520	broad.mit.edu	37	17	39871718	39871718	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:39871718C>A	uc002hxl.3	+	1	97	c.30C>A	c.(28-30)atC>atA	p.I10I	JUP_uc010wfs.2_Intron	NM_000805	NP_000796	P01350	GAST_HUMAN	Homo sapiens gastrin (GAST), mRNA.	10						extracellular region	hormone activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7		Breast(137;0.000307)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			ATGTGCTGATCTTTGCACTGG	0.602000														296			30		2.85442e-18	3.65487e-18	1	1	0
COPS6	10980	broad.mit.edu	37	7	99688570	99688570	+	Nonsense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:99688570G>T	uc003usu.3	+	5	563	c.532G>T	c.(532-534)Gag>Tag	p.E178*	DD413568_uc022aif.1_5'Flank	NM_006833	NP_006824	Q7L5N1	CSN6_HUMAN	Homo sapiens COP9 constitutive photomorphogenic homolog subunit 6 (Arabidopsis) (COPS6), mRNA.	178					cullin deneddylation|interspecies interaction between organisms	cytoplasm|signalosome	protein binding			breast(1)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|stomach(1)	12	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			AATCAATGGAGAGGTAATACC	0.478000														102			31		9.80977e-26	1.28497e-25	1	1	0
UVSSA	57654	broad.mit.edu	37	4	1369293	1369293	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:1369293C>T	uc003gde.4	+	8	1877	c.1430C>T	c.(1429-1431)gCc>gTc	p.A477V	UVSSA_uc010ibv.3_Missense_Mutation_p.A28V	NM_020894	NP_065945	Q2YD98	K1530_HUMAN	Homo sapiens KIAA1530 (KIAA1530), mRNA.	477																	CCCTCATCTGCCAGGTGACTC	0.677000														24			18		0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7662914	7662914	+	Nonsense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7662914G>T	uc002giu.1	+	14	2637	c.2623G>T	c.(2623-2625)Gga>Tga	p.G875*		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	875	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TGATCTGCAAGGAAGTGTGGC	0.458000														39			18		3.32936e-07	3.81974e-07	1	1	0
SNX20	124460	broad.mit.edu	37	16	50707891	50707891	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:50707891G>A	uc002egk.2	-	3	550	c.377C>T	c.(376-378)gCg>gTg	p.A126V	SNX20_uc010vgp.1_Intron|SNX20_uc002egi.3_Intron|SNX20_uc021thz.1_Intron	NM_182854	NP_878274	Q7Z614	SNX20_HUMAN	Homo sapiens sorting nexin 20 (SNX20), transcript variant 1, mRNA.	126	PX.				cell communication|protein transport	endosome membrane|nucleus|plasma membrane	phosphatidylinositol binding|protein binding			kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(2)|stomach(1)	15						CTTCAGCAGCGCTTTCTGGAG	0.562000														57			5		0	0	1	0	0
KRTAP10-2	386679	broad.mit.edu	37	21	45970949	45970949	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:45970949A>G	uc002zfi.1	-	0	440	c.393T>C	c.(391-393)tgT>tgC	p.C131C	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198693	NP_941966	P60368	KR102_HUMAN	Homo sapiens keratin associated protein 10-2 (KRTAP10-2), mRNA.	131	22 X 5 AA repeats of C-C-X(3).					keratin filament				large_intestine(1)|lung(4)|skin(1)	6						AGGAAGAGGCACAGCAAGCTG	0.627000														84			12		0	0	1	0	0
CCDC146	57639	broad.mit.edu	37	7	76922406	76922406	+	Silent	SNP	C	T	T	rs149134416		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:76922406C>T	uc003uga.3	+	17	2680	c.2553C>T	c.(2551-2553)tgC>tgT	p.C851C	CCDC146_uc010ldp.3_Silent_p.C565C|CCDC146_uc003ugc.3_Silent_p.C188C	NM_020879	NP_065930	Q8IYE0	CC146_HUMAN	Homo sapiens coiled-coil domain containing 146 (CCDC146), mRNA.	851										breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				TCTTCACTTGCAATTCCAGGA	0.433000														133			7		0	0	1	0	0
SDPR	8436	broad.mit.edu	37	2	192701419	192701419	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:192701419C>T	uc002utb.3	-	1	863	c.508G>A	c.(508-510)Gtg>Atg	p.V170M		NM_004657	NP_004648	O95810	SDPR_HUMAN	Homo sapiens serum deprivation response (SDPR), mRNA.	170						caveola|cytosol	phosphatidylserine binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)		Phosphatidylserine(DB00144)	TTCACAAACACGCTGGCAGGG	0.488000														15			14		0	0	1	0	0
POFUT1	23509	broad.mit.edu	37	20	30822373	30822373	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:30822373C>A	uc002wxp.3	+	6	1125	c.1076C>A	c.(1075-1077)aCt>aAt	p.T359N	POFUT1_uc010ztt.2_Missense_Mutation_p.T251N|POFUT1_uc010ztu.2_Missense_Mutation_p.T148N	NM_015352	NP_056167	Q9H488	OFUT1_HUMAN	Homo sapiens protein O-fucosyltransferase 1 (POFUT1), transcript variant 1, mRNA.	359					Notch signaling pathway|O-glycan processing|fucose metabolic process|regulation of transcription, DNA-dependent	endoplasmic reticulum|membrane	peptide-O-fucosyltransferase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|urinary_tract(1)	6			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			TCCTCCTTCACTGCCTTTGTG	0.607000														102			14		4.7546e-09	5.62729e-09	1	1	0
DNAH17	8632	broad.mit.edu	37	17	76488801	76488801	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:76488801G>A	uc010dhp.2	-	41	6580	c.6455C>T	c.(6454-6456)cCg>cTg	p.P2152L		NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CACGGCGACCGGCTTCCTCTT	0.577000														4			8		0	0	1	0	0
RNF213	57674	broad.mit.edu	37	17	78237505	78237505	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:78237505G>A	uc002jyh.2	+	1	168	c.25G>A	c.(25-27)Gtc>Atc	p.V9I	RNF213_uc002jyf.3_Missense_Mutation_p.V9I|RNF213_uc021uen.1_Missense_Mutation_p.V9I	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	SubName: Full=Uncharacterized protein;	9										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GTGCCAGCATGTCTCCAAGGA	0.612000														46			31		0	0	1	0	0
ELAVL1	1994	broad.mit.edu	37	19	8032574	8032574	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:8032574C>T	uc002mjb.3	-	4	698	c.531G>A	c.(529-531)gaG>gaA	p.E177E		NM_001419	NP_001410	Q15717	ELAV1_HUMAN	Homo sapiens ELAV (embryonic lethal, abnormal vision, Drosophila)-like 1 (Hu antigen R) (ELAVL1), mRNA.	177	RRM 2.				3'-UTR-mediated mRNA stabilization|multicellular organismal development	cytoplasm|nucleoplasm	identical protein binding|mRNA binding|nucleotide binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						CTGTGATGGGCTCAGAGGAAC	0.557000														29			18		0	0	1	0	0
GAS2L2	246176	broad.mit.edu	37	17	34079532	34079532	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:34079532T>C	uc002hjv.2	-	0	366	c.338A>G	c.(337-339)aAt>aGt	p.N113S		NM_139285	NP_644814	Q8NHY3	GA2L2_HUMAN	Homo sapiens growth arrest-specific 2 like 2 (GAS2L2), mRNA.	113	CH.				cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GTTAGAGACATTGTCCCTGGC	0.597000														106			9		0	0	1	0	0
OR4M1	441670	broad.mit.edu	37	14	20248802	20248802	+	Silent	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:20248802T>G	uc010tku.2	+	0	321	c.321T>G	c.(319-321)gtT>gtG	p.V107V		NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily M, member 1 (OR4M1), mRNA.	107					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TACACTTTGTTGGGGCTTCGG	0.473000														294			11		0	0	1	0	0
PML	5371	broad.mit.edu	37	15	74290723	74290723	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:74290723C>T	uc002awv.3	+	1	648	c.508C>T	c.(508-510)Cgc>Tgc	p.R170C	PML_uc002awj.1_Missense_Mutation_p.R170C|PML_uc002awm.3_Missense_Mutation_p.R170C|PML_uc002awl.3_Missense_Mutation_p.R170C|PML_uc002awk.3_Missense_Mutation_p.R170C|PML_uc002awn.3_Missense_Mutation_p.R170C|PML_uc002awo.3_Missense_Mutation_p.R170C|PML_uc002awp.3_Missense_Mutation_p.R170C|PML_uc002awq.3_Missense_Mutation_p.R170C|PML_uc002awr.3_Missense_Mutation_p.R170C|PML_uc002aws.3_Missense_Mutation_p.R170C|PML_uc002awt.3_Missense_Mutation_p.R170C|PML_uc002awu.3_Missense_Mutation_p.R170C|PML_uc010ule.2_Intron|PML_uc002aww.1_Missense_Mutation_p.R85C	NM_033238	NP_150241	P29590	PML_HUMAN	Homo sapiens promyelocytic leukemia (PML), transcript variant 1, mRNA.	170					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 resulting in induction of apoptosis|PML body organization|cell cycle arrest|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	PML body|cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus	DNA binding|SUMO binding|cobalt ion binding|protein binding|protein heterodimerization activity|protein homodimerization activity|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						AGCAGAGCTGCGCAACCAGTC	0.622000			T	"""RARA, PAX5"""	"""APL, ALL"""									14			12		0	0	1	0	0
CLMP	79827	broad.mit.edu	37	11	122953822	122953822	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:122953822T>C	uc001pyt.3	-	4	1009	c.650A>G	c.(649-651)gAa>gGa	p.E217G		NM_024769	NP_079045	Q9H6B4	CLMP_HUMAN	Homo sapiens CXADR-like membrane protein (CLMP), mRNA.	217	Ig-like C2-type 2.					integral to membrane|tight junction				endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	14						CACACAGCTTTCCTTCCCAGC	0.443000														77			54		0	0	1	0	0
ICAM4	3386	broad.mit.edu	37	19	10398513	10398513	+	Splice_Site	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10398513C>T	uc002mnr.2	+	2	666	c.620_splice	c.e2+1	p.R207_splice	ICAM4_uc002mns.2_Splice_Site_p.A233_splice|ICAM4_uc002mnt.2_Silent_p.L232L|ICAM5_uc002mnu.4_5'Flank	NM_001039132	NP_001034221	Q14773	ICAM4_HUMAN	Homo sapiens intercellular adhesion molecule 4 (Landsteiner-Wiener blood group) (ICAM4), transcript variant 3, mRNA.	0	Ig-like C2-type 2.				cell-cell adhesion|regulation of immune response	extracellular region|integral to membrane|plasma membrane	integrin binding			breast(1)|large_intestine(3)|lung(2)|pancreas(1)	7			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			CACTGATGCTCGGTGAGGCAC	0.652000														58			47		0	0	1	0	0
KCNK15	60598	broad.mit.edu	37	20	43374622	43374622	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:43374622C>A	uc002xmr.3	+	0	135	c.71C>A	c.(70-72)gCt>gAt	p.A24D		NM_022358	NP_071753	Q9H427	KCNKF_HUMAN	Homo sapiens potassium channel, subfamily K, member 15 (KCNK15), mRNA.	24						integral to membrane	potassium channel activity|voltage-gated ion channel activity			NS(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(2)	10		Myeloproliferative disorder(115;0.0122)				GTGGGCGCTGCTGTCTTCGAC	0.736000														4			5		0.0215528	0.0220531	1	1	0
MIB2	142678	broad.mit.edu	37	1	1558852	1558852	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:1558852C>T	uc001agg.3	+	2	410	c.365C>T	c.(364-366)gCg>gTg	p.A122V	MIB2_uc001agh.3_Missense_Mutation_p.A108V|MIB2_uc001agi.3_Missense_Mutation_p.A122V|MIB2_uc001agj.3_5'UTR|MIB2_uc001agk.3_Missense_Mutation_p.A122V|MIB2_uc001agl.2_Missense_Mutation_p.A21V|MIB2_uc001agm.3_Missense_Mutation_p.A7V|MIB2_uc010nyq.2_Missense_Mutation_p.A21V|MIB2_uc009vkh.3_5'Flank|MIB2_uc001agn.3_5'Flank	NM_080875	NP_543151	Q96AX9	MIB2_HUMAN	Homo sapiens mindbomb homolog 2 (Drosophila) (MIB2), transcript variant 1, mRNA.	65	MIB/HERC2 1.				Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade	endosome	actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1)	18	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GACCCCCAGGCGGGCGTGCAG	0.736000														9			4		0	0	1	0	0
PHKA1	5255	broad.mit.edu	37	X	71876093	71876093	+	Splice_Site	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:71876093C>T	uc004eax.4	-	10	1220	c.919_splice	c.e10-1	p.D307_splice	PHKA1_uc004eay.4_Splice_Site_p.D307_splice|PHKA1_uc011mqi.2_Splice_Site_p.D307_splice	NM_002637	NP_002628	P46020	KPB1_HUMAN	Homo sapiens phosphorylase kinase, alpha 1 (muscle) (PHKA1), transcript variant 1, mRNA.	307					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					GATTGGGATCCTAGTAAAAAC	0.368000														38			37		0	0	1	0	0
NBEA	26960	broad.mit.edu	37	13	36241642	36241642	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:36241642C>T	uc021rid.1	+	55	9067	c.8533C>T	c.(8533-8535)Cga>Tga	p.R2845*	NBEA_uc021ric.1_Nonsense_Mutation_p.R2842*|NBEA_uc010abi.3_Nonsense_Mutation_p.R1503*|MAB21L1_uc001uvc.3_Intron|NBEA_uc010tef.2_Nonsense_Mutation_p.R638*|NBEA_uc001uvd.3_Nonsense_Mutation_p.R423*	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	Homo sapiens neurobeachin (NBEA), transcript variant 1, mRNA.	2845						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding	p.R2845*(2)		NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TGAACGAGGGCGATTCAGTAA	0.428000														79			45		0	0	1	0	0
GJA1	2697	broad.mit.edu	37	6	121768987	121768987	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:121768987G>A	uc003pyr.3	+	1	1244	c.994G>A	c.(994-996)Gca>Aca	p.A332T	GJA1_uc011ebo.1_Missense_Mutation_p.A233T|GJA1_uc011ebp.1_Missense_Mutation_p.A120T|GJA1_uc021zel.1_Missense_Mutation_p.A332T	NM_000165	NP_000156	P17302	CXA1_HUMAN	Homo sapiens gap junction protein, alpha 1, 43kDa (GJA1), mRNA.	332					cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi-associated vesicle membrane|connexon complex|integral to plasma membrane|membrane raft	ion transmembrane transporter activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2)	33				GBM - Glioblastoma multiforme(226;0.00252)	Carvedilol(DB01136)	TAACTCCCATGCACAGCCTTT	0.468000														46			36		0	0	1	0	0
TRAPPC11	60684	broad.mit.edu	37	4	184601408	184601408	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:184601408C>A	uc003ivx.3	+	9	1303	c.1101C>A	c.(1099-1101)ctC>ctA	p.L367L	TRAPPC11_uc003ivw.3_Silent_p.L367L|TRAPPC11_uc010isc.3_5'UTR	NM_021942	NP_068761	Q7Z392	CD041_HUMAN	Homo sapiens trafficking protein particle complex 11 (TRAPPC11), transcript variant 1, mRNA.	367																	CAAAAACCCTCTGTAACCACG	0.383000														46			33		1.21669e-08	1.43261e-08	1	1	0
NCOA7	135112	broad.mit.edu	37	6	126236496	126236496	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:126236496C>T	uc003qai.3	+	10	2483	c.2114C>T	c.(2113-2115)aCa>aTa	p.T705I	NCOA7_uc010kes.3_Missense_Mutation_p.T705I|NCOA7_uc003qae.4_Missense_Mutation_p.T705I|NCOA7_uc010ket.3_Missense_Mutation_p.T590I|NCOA7_uc003qah.3_Missense_Mutation_p.T694I	NM_181782	NP_861447	Q8NI08	NCOA7_HUMAN	Homo sapiens nuclear receptor coactivator 7 (NCOA7), transcript variant 1, mRNA.	705					cell wall macromolecule catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.Y704C(1)|p.T705T(1)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(2)	39				UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)		CATTTGTACACATTCTTTGTT	0.433000														120			11		0	0	1	0	0
C16orf53	79447	broad.mit.edu	37	16	29831064	29831064	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:29831064C>T	uc002dug.4	+	2	1073	c.754C>T	c.(754-756)Cgg>Tgg	p.R252W	BOLA2_uc010bzb.1_Intron|BC029255_uc002duh.1_Intron|MVP_uc010bzh.2_5'Flank|MVP_uc010vdz.2_5'Flank|MVP_uc002dui.3_5'Flank|MVP_uc002duj.3_5'Flank	NM_024516	NP_078792	Q9BTK6	PA1_HUMAN	Homo sapiens chromosome 16 open reading frame 53 (C16orf53), mRNA.	252										kidney(1)|lung(1)|prostate(1)	3						CCCTCGGCAGCGGAAATACTG	0.642000														19			12		0	0	1	0	0
GSDMA	284110	broad.mit.edu	37	17	38133298	38133298	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:38133298C>T	uc002htl.1	+	11	1443	c.1325C>T	c.(1324-1326)aCc>aTc	p.T442I	GSDMA_uc002htm.1_Missense_Mutation_p.T442I	NM_178171	NP_835465	Q96QA5	GSDMA_HUMAN	Homo sapiens gasdermin A (GSDMA), mRNA.	442					apoptosis|induction of apoptosis	perinuclear region of cytoplasm				NS(1)|endometrium(2)|large_intestine(3)|lung(1)	7						CAGCAGCTTACCAAGGCCTCC	0.542000														46			36		0	0	1	0	0
CCT5	22948	broad.mit.edu	37	5	10254886	10254886	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:10254886G>A	uc003jeq.3	+	2	438	c.267G>A	c.(265-267)aaG>aaA	p.K89K	CCT5_uc011cmq.2_Intron|CCT5_uc011cmr.2_Intron|CCT5_uc011cms.2_Silent_p.K51K|CCT5_uc011cmt.2_Intron	NM_012073	NP_036205	P48643	TCPE_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 5 (epsilon) (CCT5), mRNA.	89					'de novo' posttranslational protein folding|response to virus	microtubule organizing center|nucleolus	ATP binding|unfolded protein binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(2)	26						AGATTGCCAAGCTGATGGTGG	0.428000														59			40		0	0	1	0	0
UBE2Q2	92912	broad.mit.edu	37	15	76165893	76165893	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:76165893G>T	uc002bbg.2	+	4	958	c.572G>T	c.(571-573)aGg>aTg	p.R191M	UBE2Q2_uc002bbh.2_Missense_Mutation_p.R156M|UBE2Q2_uc010umn.1_Missense_Mutation_p.R175M|UBE2Q2_uc002bbi.2_Missense_Mutation_p.R72M	NM_173469	NP_775740	Q8WVN8	UB2Q2_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2Q family member 2 (UBE2Q2), transcript variant 1, mRNA.	191					protein K48-linked ubiquitination	cytoplasm	ATP binding|ubiquitin-protein ligase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	12						AAGACTCAAAGGCAAGACCAT	0.343000														36			22		7.87624e-14	9.83087e-14	1	1	0
COL16A1	1307	broad.mit.edu	37	1	32119490	32119490	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:32119490C>T	uc001btk.1	-	68	4877	c.4512G>A	c.(4510-4512)cgG>cgA	p.R1504R	COL16A1_uc001btj.1_Silent_p.R1302R	NM_001856	NP_001847	Q07092	COGA1_HUMAN	Homo sapiens collagen, type XVI, alpha 1 (COL16A1), mRNA.	1504	Triple-helical region 1 (COL1) with 2 imperfections.				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		GCAAGCCCTGCCGTCCTTCTC	0.602000														51			26		0	0	1	0	0
CLCN5	1184	broad.mit.edu	37	X	49856787	49856787	+	Splice_Site	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:49856787C>T	uc004dos.1	+	12	2399	c.2151_splice	c.e12-1	p.G717_splice	CLCN5_uc004dor.1_Splice_Site_p.G787_splice|CLCN5_uc004doq.1_Splice_Site_p.G787_splice|CLCN5_uc004dot.1_Splice_Site_p.G717_splice	NM_000084	NP_000075	P51795	CLCN5_HUMAN	Homo sapiens chloride channel 5 (CLCN5), transcript variant 3, mRNA.	717	CBS 2.				excretion	Golgi membrane|apical part of cell|endosome membrane|integral to plasma membrane	ATP binding|antiporter activity			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)	30	Ovarian(276;0.236)					GTCTTTTAGGCGATTGCTTGG	0.353000														36			14		0	0	1	0	0
HAT1	8520	broad.mit.edu	37	2	172821917	172821917	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:172821917C>T	uc002uhi.3	+	4	444	c.368C>T	c.(367-369)aCg>aTg	p.T123M	HAT1_uc010fqi.2_5'UTR|HAT1_uc002uhj.3_Missense_Mutation_p.T38M	NM_003642	NP_003633	O14929	HAT1_HUMAN	Homo sapiens histone acetyltransferase 1 (HAT1), transcript variant 1, mRNA.	123					DNA packaging|chromatin silencing at telomere	cytoplasm|nuclear matrix|nucleoplasm	histone acetyltransferase activity|protein binding			breast(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|prostate(1)	19			OV - Ovarian serous cystadenocarcinoma(117;0.216)			TGCACAAACACGAATGATTTC	0.358000														40			4		0	0	1	0	0
SETDB1	9869	broad.mit.edu	37	1	150936218	150936218	+	Splice_Site	SNP	G	A	A	rs111660370		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:150936218G>A	uc001evu.2	+	20	3859	c.3669_splice	c.e20+1	p.N1223_splice	SETDB1_uc001evv.2_Splice_Site_p.N1223_splice|SETDB1_uc009wmg.2_Missense_Mutation_p.V1224M	NM_001145415	NP_001138887	Q15047	SETB1_HUMAN	Homo sapiens SET domain, bifurcated 1 (SETDB1), transcript variant 1, mRNA.	1223	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|chromosome|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			CTACCTCAACGTGAGACCCCT	0.468000														43			30		0	0	1	0	0
MKLN1	4289	broad.mit.edu	37	7	131073706	131073706	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:131073706G>A	uc011kpm.2	+	3	439	c.375G>A	c.(373-375)atG>atA	p.M125I	MKLN1_uc011kpl.2_Missense_Mutation_p.M102I|MKLN1_uc010lmh.2_Missense_Mutation_p.M125I|MKLN1_uc003vqs.3_5'UTR	NM_013255	NP_037387	Q9UL63	MKLN1_HUMAN	Homo sapiens muskelin 1, intracellular mediator containing kelch motifs (MKLN1), transcript variant 2, mRNA.	125					signal transduction	cytoplasm	protein binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28	Melanoma(18;0.162)					ATGAACAGATGTTCCCTTGTC	0.313000														45			4		0	0	1	0	0
ALKBH1	8846	broad.mit.edu	37	14	78142174	78142174	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:78142174A>G	uc001xuc.1	-	4	574	c.565T>C	c.(565-567)Tac>Cac	p.Y189H		NM_006020	NP_006011	Q13686	ALKB1_HUMAN	Homo sapiens alkB, alkylation repair homolog 1 (E. coli) (ALKBH1), mRNA.	189					DNA dealkylation involved in DNA repair|DNA demethylation|RNA repair|oxidative demethylation	mitochondrion	DNA-(apurinic or apyrimidinic site) lyase activity|ferrous iron binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	9			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		AAAGGTGTGTAATGATCTGCT	0.393000														33			19		0	0	1	0	0
ATRX	546	broad.mit.edu	37	X	76875919	76875919	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:76875919C>T	uc004ecp.4	-	19	5448	c.5216G>A	c.(5215-5217)cGa>cAa	p.R1739Q	ATRX_uc004ecq.4_Missense_Mutation_p.R1701Q|ATRX_uc004eco.4_Missense_Mutation_p.R1524Q	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	1739	Helicase ATP-binding.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.R1739*(1)|p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	CCTCCTTGATCGTATAGAATT	0.328000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome							51			5		0	0	1	0	0
PRPF8	10594	broad.mit.edu	37	17	1579960	1579960	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:1579960C>T	uc002fte.3	-	15	2341	c.2227G>A	c.(2227-2229)Gtg>Atg	p.V743M		NM_006445	NP_006436	Q6P2Q9	PRP8_HUMAN	Homo sapiens PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae) (PRPF8), mRNA.	743						U5 snRNP|catalytic step 2 spliceosome|nuclear speck	RNA binding|protein binding	p.V743M(2)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		TTGGCCTTCACGTATCGAAGG	0.537000														300			21		0	0	1	0	0
ALMS1	7840	broad.mit.edu	37	2	73677079	73677079	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:73677079C>T	uc002sje.1	+	7	3533	c.3422C>T	c.(3421-3423)aCt>aTt	p.T1141I	ALMS1_uc002sjf.1_Missense_Mutation_p.T1099I|ALMS1_uc002sjg.3_Missense_Mutation_p.T529I|ALMS1_uc002sjh.1_Missense_Mutation_p.T529I	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Homo sapiens Alstrom syndrome 1 (ALMS1), mRNA.	1141	34 X 47 AA approximate tandem repeat.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						GTAACCTCAACTTCCTACTCA	0.478000														99			64		0	0	1	0	0
ADAMTS7	11173	broad.mit.edu	37	15	79060602	79060602	+	Splice_Site	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:79060602C>A	uc002bej.4	-	17	2730	c.2519_splice	c.e17-1	p.G840_splice	ADAMTS7_uc010und.1_Splice_Site_p.S416_splice	NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 7 (ADAMTS7), mRNA.	840	TSP type-1 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						CTCTGCACACCTAGGGGCCAC	0.647000														14			3		0.004672	0.00486265	1	1	0
STX2	2054	broad.mit.edu	37	12	131291536	131291536	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:131291536G>A	uc001uio.3	-	5	621	c.454C>T	c.(454-456)Ctg>Ttg	p.L152L	STX2_uc001uip.3_Silent_p.L152L|STX2_uc010tbj.2_Silent_p.L152L	NM_194356	NP_919337	P32856	STX2_HUMAN	Homo sapiens syntaxin 2 (STX2), transcript variant 2, mRNA.	152					acrosome reaction|ectoderm development|intracellular protein transport|organ morphogenesis|signal transduction	basolateral plasma membrane|integral to membrane|microsome|soluble fraction	SNAP receptor activity|calcium-dependent protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)	16	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.79e-06)|all cancers(50;5.27e-05)|Epithelial(86;5.29e-05)		CTTATCTCCAGCTGGCGCTGG	0.478000														53			25		0	0	1	0	0
NMUR1	10316	broad.mit.edu	37	2	232393400	232393400	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:232393400A>G	uc002vry.4	-	1	442	c.332T>C	c.(331-333)cTg>cCg	p.L111P		NM_006056	NP_006047	Q9HB89	NMUR1_HUMAN	Homo sapiens neuromedin U receptor 1 (NMUR1), mRNA.	111					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|calcium ion transport|calcium-mediated signaling|chloride transport|smooth muscle contraction	integral to plasma membrane|membrane fraction	neuromedin U receptor activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(12)|pancreas(1)|skin(1)	24		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;8.37e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		CAGGCCCACCAGCAGCACCAG	0.602000														65			28		0	0	1	0	0
POLR1A	25885	broad.mit.edu	37	2	86255105	86255105	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:86255105C>T	uc002sqs.3	-	32	5344	c.4965G>A	c.(4963-4965)aaG>aaA	p.K1655K	POLR1A_uc010ytb.2_Silent_p.K1021K	NM_015425	NP_056240	O95602	RPA1_HUMAN	Homo sapiens polymerase (RNA) I polypeptide A, 194kDa (POLR1A), mRNA.	1655					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						GATTCAGTGGCTTGTAAACAC	0.507000														39			25		0	0	1	0	0
SOX7	83595	broad.mit.edu	37	8	10583854	10583854	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:10583854G>A	uc011kwz.2	-	5	750	c.717C>T	c.(715-717)ggC>ggT	p.G239G	BC043573_uc003wtg.1_5'Flank|SOX7_uc003wtf.3_Silent_p.G187G	NM_031439	NP_113627	Q9BT81	SOX7_HUMAN	Homo sapiens SRY (sex determining region Y)-box 7 (SOX7), mRNA.	187					endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway	cytoplasm|nucleus	transcription regulatory region DNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				COAD - Colon adenocarcinoma(149;0.0732)		GGGTGCCGCCGCCGCCACCAC	0.701000														7			10		0	0	1	0	0
GCLC	2729	broad.mit.edu	37	6	53370685	53370685	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:53370685C>T	uc003pbw.2	-	10	1690	c.1206G>A	c.(1204-1206)caG>caA	p.Q402Q	GCLC_uc003pbv.1_Silent_p.Q126Q|GCLC_uc021zau.1_Silent_p.Q364Q	NM_001498	NP_001489	P48506	GSH1_HUMAN	Homo sapiens glutamate-cysteine ligase, catalytic subunit (GCLC), transcript variant 1, mRNA.	402					anti-apoptosis|cell redox homeostasis|cysteine metabolic process|glutamate metabolic process|glutathione biosynthetic process|negative regulation of transcription, DNA-dependent|regulation of blood vessel size|response to heat|response to hormone stimulus|response to oxidative stress|xenobiotic metabolic process	cytosol	ADP binding|ATP binding|coenzyme binding|glutamate binding|glutamate-cysteine ligase activity|magnesium ion binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Lung NSC(77;0.0137)				L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)	AATTTGTGGACTGAATATTCT	0.393000														85			6		0	0	1	0	0
CAPN10	11132	broad.mit.edu	37	2	241536168	241536168	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:241536168C>T	uc002vzk.2	+	8	1748	c.1552C>T	c.(1552-1554)Cag>Tag	p.Q518*	CAPN10_uc002vzp.2_Intron|CAPN10_uc002vzm.2_Intron|CAPN10_uc002vzl.2_Intron|CAPN10_uc002vzn.2_Nonsense_Mutation_p.Q390*|CAPN10_uc002vzo.2_Intron|CAPN10_uc010fzg.2_Intron|CAPN10_uc002vzq.2_Intron	NM_023083	NP_075571	Q9HC96	CAN10_HUMAN	Homo sapiens calpain 10 (CAPN10), transcript variant 1, mRNA.	518	Domain III 2.				actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis	cytosol|plasma membrane	SNARE binding|calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1)	27		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)		GGGGACCGTGCAGCTACGGGG	0.677000														55			6		0	0	1	0	0
ITIH1	3697	broad.mit.edu	37	3	52812378	52812378	+	Missense_Mutation	SNP	G	A	A	rs150656991	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52812378G>A	uc003dfs.3	+	2	191	c.161G>A	c.(160-162)cGg>cAg	p.R54Q	ITIH1_uc010hmn.2_Non-coding_Transcript|ITIH1_uc021wzf.1_5'Flank|ITIH1_uc021wzg.1_5'Flank|ITIH1_uc021wzh.1_5'Flank	NM_002215	NP_002206	P19827	ITIH1_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain 1 (ITIH1), transcript variant 1, mRNA.	54	VIT.			R -> A (in Ref. 7; AA sequence).	hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		GTGTTCATCCGGAGTTTGAAA	0.552000														44			23		0	0	1	0	0
NPRL2	10641	broad.mit.edu	37	3	50385824	50385824	+	Nonsense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:50385824G>T	uc003daj.1	-	7	1141	c.738C>A	c.(736-738)tgC>tgA	p.C246*	ZMYND10_uc003dag.1_5'Flank|ZMYND10_uc010hll.1_5'Flank|ZMYND10_uc010hlm.1_5'Flank|CYB561D2_uc003dal.3_5'Flank|CYB561D2_uc003dam.3_5'Flank	NM_006545	NP_006536	Q8WTW4	NPRL2_HUMAN	Homo sapiens nitrogen permease regulator-like 2 (S. cerevisiae) (NPRL2), mRNA.	246					negative regulation of kinase activity		protein binding|protein kinase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	11						TGGGCGTTGGGCAGTATACAT	0.567000														41			4		0.00909568	0.00940365	1	1	0
GNPTG	84572	broad.mit.edu	37	16	1411752	1411752	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:1411752C>T	uc002clm.3	+	3	254	c.187C>T	c.(187-189)Cat>Tat	p.H63Y		NM_032520	NP_115909	Q9UJJ9	GNPTG_HUMAN	Homo sapiens N-acetylglucosamine-1-phosphate transferase, gamma subunit (GNPTG), mRNA.	63						Golgi apparatus|extracellular region	protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	7		Hepatocellular(780;0.0893)				AGGACCCGTGCATCTCTTCCG	0.602000														15			16		0	0	1	0	0
INF2	64423	broad.mit.edu	37	14	105179215	105179215	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:105179215G>A	uc001ypb.2	+	17	2804	c.2661G>A	c.(2659-2661)gaG>gaA	p.E887E	INF2_uc001ypc.2_Silent_p.E887E|INF2_uc010awz.1_Non-coding_Transcript	NM_022489	NP_071934	Q27J81	INF2_HUMAN	Homo sapiens inverted formin, FH2 and WH2 domain containing (INF2), transcript variant 1, mRNA.	887	FH2.				actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	Rho GTPase binding|actin binding			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		AGGCCATCGAGCAGAAGCAAC	0.647000														27			14		0	0	1	0	0
KCNQ3	3786	broad.mit.edu	37	8	133182641	133182641	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:133182641C>T	uc003ytj.3	-	7	1400	c.1175G>A	c.(1174-1176)aGg>aAg	p.R392K	KCNQ3_uc003yti.3_Missense_Mutation_p.R272K|KCNQ3_uc010mdt.3_Missense_Mutation_p.R392K	NM_004519	NP_004510	O43525	KCNQ3_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 3 (KCNQ3), transcript variant 1, mRNA.	392					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			CAGGTCAATCCTGTTGGGGTT	0.532000														40			24		0	0	1	0	0
HOXA3	3200	broad.mit.edu	37	7	27149775	27149775	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:27149775G>A	uc011jzl.2	-	1	685	c.485C>T	c.(484-486)tCt>tTt	p.S162F	HOXA3_uc003syk.3_Missense_Mutation_p.S162F	NM_030661	NP_705895	O43365	HXA3_HUMAN	Homo sapiens homeobox A3 (HOXA3), transcript variant 1, mRNA.	162					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						GTTTTGTCGAGACTCTTTCAT	0.562000														73			23		0	0	1	0	0
EEA1	8411	broad.mit.edu	37	12	93169839	93169839	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:93169839G>A	uc001tck.3	-	28	4449	c.4184C>T	c.(4183-4185)tCc>tTc	p.S1395F		NM_003566	NP_003557	Q15075	EEA1_HUMAN	Homo sapiens early endosome antigen 1 (EEA1), mRNA.	1395					early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion	cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction	1-phosphatidylinositol binding|GTP-dependent protein binding|calmodulin binding|protein homodimerization activity|zinc ion binding			endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						AGGCTTCTTGGAGGAAGGAGT	0.363000														27			20		0	0	1	0	0
CHST13	166012	broad.mit.edu	37	3	126255145	126255145	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:126255145G>T	uc003eja.3	+	1	174	c.129G>T	c.(127-129)tgG>tgT	p.W43C		NM_152889	NP_690849	Q8NET6	CHSTD_HUMAN	Homo sapiens carbohydrate (chondroitin 4) sulfotransferase 13 (CHST13), mRNA.	43					chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity|chondroitin 4-sulfotransferase activity			central_nervous_system(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(114;0.151)		GCTCCAGCTGGCTTGGTGGGG	0.597000														40			17		3.41278e-10	4.10877e-10	1	1	0
N4BP1	9683	broad.mit.edu	37	16	48596022	48596022	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:48596022A>G	uc002efp.3	-	1	769	c.532T>C	c.(532-534)Ttg>Ctg	p.L178L		NM_153029	NP_694574	O75113	N4BP1_HUMAN	Homo sapiens NEDD4 binding protein 1 (N4BP1), mRNA.	178					negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination	PML body|nucleolus				breast(3)|kidney(2)|lung(11)|urinary_tract(1)	17		all_cancers(37;0.179)|all_lung(18;0.11)				GAAGTGGGCAAAATCAACAAA	0.383000														40			17		0	0	1	0	0
OTOGL	283310	broad.mit.edu	37	12	80672872	80672872	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:80672872G>A	uc001szd.3	+	24	2833	c.2827G>A	c.(2827-2829)Ggg>Agg	p.G943R		NM_173591	NP_775862			Homo sapiens otogelin-like (OTOGL), mRNA.											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						CACAATATACGGGGACCGACA	0.348000														76			68		0	0	1	0	0
PEAK1	79834	broad.mit.edu	37	15	77450859	77450859	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:77450859G>A	uc021sqy.1	-	5	3893	c.3317C>T	c.(3316-3318)aCa>aTa	p.T1106I	PEAK1_uc002bcn.2_Missense_Mutation_p.T1106I	NM_024776	NP_079052	Q9H792	PEAK1_HUMAN	Homo sapiens NKF3 kinase family member (PEAK1), mRNA.	1106					cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding										GTTGCTGTATGTTGCACTACA	0.403000														47			24		0	0	1	0	0
HIPK2	28996	broad.mit.edu	37	7	139285180	139285180	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:139285180C>T	uc003vvf.4	-	10	2689	c.2418G>A	c.(2416-2418)caG>caA	p.Q806Q	HIPK2_uc003vvd.4_Silent_p.Q779Q	NM_022740	NP_073577	Q9H2X6	HIPK2_HUMAN	Homo sapiens homeodomain interacting protein kinase 2 (HIPK2), transcript variant 1, mRNA.	806	Interaction with CTBP1 (By similarity).|Interaction with HMGA1 (By similarity).|Interaction with POU4F1 (By similarity).|Interaction with SKI and SMAD1.				DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|SMAD protein signal transduction|apoptosis|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent|virus-host interaction	PML body|centrosome|nuclear membrane	ATP binding|SMAD binding|protein serine/threonine kinase activity|transcription corepressor activity|virion binding			breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					ATGACTGGTGCTGCTTACTCT	0.552000														43			16		0	0	1	0	0
HERC1	8925	broad.mit.edu	37	15	63922785	63922785	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:63922785C>T	uc002amp.3	-	68	12994	c.12846G>A	c.(12844-12846)ccG>ccA	p.P4282P		NM_003922	NP_003913	Q15751	HERC1_HUMAN	Homo sapiens hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1 (HERC1), mRNA.	4282					protein modification process|transport	Golgi apparatus|cytosol|membrane	ARF guanyl-nucleotide exchange factor activity|acid-amino acid ligase activity	p.P4282P(2)		NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						GGATTTGTTGCGGTCGATTGT	0.473000														55			45		0	0	1	0	0
FAM172A	83989	broad.mit.edu	37	5	93300165	93300165	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:93300165G>T	uc010jbd.3	-	4	580	c.373C>A	c.(373-375)Cca>Aca	p.P125T	FAM172A_uc011cuf.2_Missense_Mutation_p.P79T|FAM172A_uc011cug.2_Missense_Mutation_p.P79T|FAM172A_uc011cuh.2_Missense_Mutation_p.P42T|FAM172A_uc011cui.2_Non-coding_Transcript|FAM172A_uc011cuj.2_Intron|FAM172A_uc003kkm.4_Missense_Mutation_p.P125T	NM_032042	NP_001156889	Q8WUF8	F172A_HUMAN	Homo sapiens family with sequence similarity 172, member A (FAM172A), transcript variant 1, mRNA.	125						endoplasmic reticulum|extracellular region				endometrium(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	9						TGACTTACTGGAATAGATACT	0.269000														16			9		5.4927e-09	6.49148e-09	1	1	0
ATG2A	23130	broad.mit.edu	37	11	64662655	64662655	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:64662655G>T	uc001obx.3	-	40	5722	c.5607C>A	c.(5605-5607)atC>atA	p.I1869I	AB429224_uc009ypx.3_5'Flank|ATG2A_uc001obw.3_Silent_p.I634I	NM_015104	NP_055919	Q2TAZ0	ATG2A_HUMAN	Homo sapiens ATG2 autophagy related 2 homolog A (S. cerevisiae) (ATG2A), mRNA.	1869							protein binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						CCACGTCACAGATGGTCTGAG	0.682000														54			7		2.0095e-06	2.27092e-06	1	1	0
MECR	51102	broad.mit.edu	37	1	29528491	29528491	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:29528491C>A	uc001brq.1	-	5	756	c.720G>T	c.(718-720)gaG>gaT	p.E240D	MECR_uc001brp.1_Missense_Mutation_p.E164D|MECR_uc001brt.1_Missense_Mutation_p.E164D|MECR_uc010ofz.1_Missense_Mutation_p.E240D	NM_016011	NP_001019903	Q9BV79	MECR_HUMAN	Homo sapiens mitochondrial trans-2-enoyl-CoA reductase (MECR), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	240					fatty acid biosynthetic process	mitochondrion	trans-2-enoyl-CoA reductase (NADPH) activity|zinc ion binding	p.E240G(1)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)	11		Colorectal(325;0.000389)|Breast(348;0.00765)|Lung NSC(340;0.0081)|all_lung(284;0.00914)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.39e-07)|COAD - Colon adenocarcinoma(152;2.04e-05)|STAD - Stomach adenocarcinoma(196;0.0195)|BRCA - Breast invasive adenocarcinoma(304;0.053)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.137)		TTCTTAGCTCCTCTTCTGTGA	0.493000														293			22		4.59853e-10	5.52125e-10	1	1	0
CYCS	54205	broad.mit.edu	37	7	25163588	25163588	+	Missense_Mutation	SNP	C	T	T	rs11548772		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:25163588C>T	uc003sxl.3	-	1	321	c.151G>A	c.(151-153)Gcc>Acc	p.A51T		NM_018947	NP_061820	P99999	CYC_HUMAN	Homo sapiens cytochrome c, somatic (CYCS), nuclear gene encoding mitochondrial protein, mRNA.	51					DNA fragmentation involved in apoptotic nuclear change|activation of caspase activity by cytochrome c|induction of apoptosis by intracellular signals|respiratory electron transport chain|transport	cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|mitochondrial matrix|nucleus|protein phosphatase type 2A complex|respiratory chain	electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity|heme binding|protein binding			endometrium(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	4					Melatonin(DB01065)|Minocycline(DB01017)	TTATTGGCGGCTGTGTAAGAG	0.458000														47			18		0	0	1	0	0
KCNF1	3754	broad.mit.edu	37	2	11053082	11053082	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:11053082C>T	uc002rax.3	+	0	1020	c.530C>T	c.(529-531)tCg>tTg	p.S177L		NM_002236	NP_002227	Q9H3M0	KCNF1_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily F, member 1 (KCNF1), mRNA.	177						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		AAGCCCGAGTCGTCGTGCCCG	0.687000														20			13		0	0	1	0	0
SYCP2	10388	broad.mit.edu	37	20	58448959	58448959	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:58448959G>T	uc002yaz.3	-	33	3646	c.3507C>A	c.(3505-3507)ttC>ttA	p.F1169L		NM_014258	NP_055073	Q9BX26	SYCP2_HUMAN	Homo sapiens synaptonemal complex protein 2 (SYCP2), mRNA.	1169					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			TTGCACACAGGAAGTTTTTCT	0.338000														40			8		0.000157383	0.000170012	1	1	0
TAP2	6891	broad.mit.edu	37	6	32805576	32805576	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:32805576G>T	uc011dqf.1	-	1	557	c.435C>A	c.(433-435)tcC>tcA	p.S145S	TAP2_uc003ocb.1_Silent_p.S145S|TAP2_uc003occ.3_Silent_p.S145S|TAP2_uc003ocd.3_Silent_p.S145S	NM_018833	NP_061313	Q03519	TAP2_HUMAN	Homo sapiens transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) (TAP2), transcript variant 2, mRNA.	145					antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of T cell mediated cytotoxicity|positive regulation of antigen processing and presentation of peptide antigen via MHC class I	TAP complex|nucleus|plasma membrane	ATP binding|MHC class I protein binding|TAP1 binding|TAP2 binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|tapasin binding										GGTCCGGCCTGGAGAGCTTCA	0.572000														22			21		4.63292e-17	5.89218e-17	1	1	0
MEGF8	1954	broad.mit.edu	37	19	42838210	42838210	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:42838210G>A	uc002otl.4	+	2	1038	c.403G>A	c.(403-405)Gcc>Acc	p.A135T	MEGF8_uc002otm.4_5'Flank	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN	Homo sapiens multiple EGF-like-domains 8 (MEGF8), mRNA.	135	CUB 1.					integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				GGGCTTTAACGCCTCATTCCG	0.652000														17			7		0	0	1	0	0
NKRF	55922	broad.mit.edu	37	X	118724034	118724034	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:118724034C>T	uc022cdk.1	-	3	1621	c.1399G>A	c.(1399-1401)Gtg>Atg	p.V467M	NKRF_uc004erq.3_Missense_Mutation_p.V452M|NKRF_uc004err.3_Missense_Mutation_p.V452M	NM_001173487	NP_060014	O15226	NKRF_HUMAN	Homo sapiens NFKB repressing factor (NKRF), transcript variant 1, mRNA.	452					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|double-stranded RNA binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	30						AGCGTGCACACGGGATTTGAA	0.423000														65			57		0	0	1	0	0
DNAH6	1768	broad.mit.edu	37	2	84804521	84804521	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:84804521C>T	uc010fgb.3	+	12	2202	c.2065C>T	c.(2065-2067)Cga>Tga	p.R689*	DNAH6_uc002soo.3_Nonsense_Mutation_p.R268*|DNAH6_uc002sop.3_Nonsense_Mutation_p.R268*	NM_001370	NP_001361	Q9C0G6	DYH6_HUMAN	Homo sapiens dynein, axonemal, heavy chain 6 (DNAH6), mRNA.	689	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						ATCACCTTTGCGATGCTTAGA	0.333000														17			9		0	0	1	0	0
MGAT3	4248	broad.mit.edu	37	22	39883969	39883969	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:39883969G>A	uc003axv.4	+	1	856	c.617G>A	c.(616-618)cGc>cAc	p.R206H	MGAT3_uc010gxy.3_Missense_Mutation_p.R206H	NM_002409	NP_002400	Q09327	MGAT3_HUMAN	Homo sapiens mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase (MGAT3), transcript variant 1, mRNA.	206					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity			endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24	Melanoma(58;0.04)					GAGGTGCCGCGCCGCGTCATC	0.677000														8			8		0	0	1	0	0
RGMA	56963	broad.mit.edu	37	15	93588245	93588245	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:93588245G>T	uc010urc.2	-	3	1591	c.1360C>A	c.(1360-1362)Ctc>Atc	p.L454I	RGMA_uc002bsq.2_Missense_Mutation_p.L430I|RGMA_uc021svs.1_Missense_Mutation_p.L430I|RGMA_uc021svt.1_Missense_Mutation_p.L430I|RGMA_uc010boi.2_Missense_Mutation_p.L337I|RGMA_uc002bsr.2_Missense_Mutation_p.L337I|RGMA_uc021svu.1_Missense_Mutation_p.L430I|RGMA_uc002bss.2_Missense_Mutation_p.L446I	NM_001166283	NP_001159761	Q96B86	RGMA_HUMAN	Homo sapiens RGM domain family, member A (RGMA), transcript variant 1, mRNA.	446					axon guidance	anchored to membrane|endoplasmic reticulum|plasma membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	9	Lung NSC(78;0.0542)|all_lung(78;0.0786)		BRCA - Breast invasive adenocarcinoma(143;0.0312)|OV - Ovarian serous cystadenocarcinoma(32;0.108)			AACACAGGGAGCAGGGCCAGG	0.721000														2			3		0.115264	0.116841	1	1	0
ZSWIM4	65249	broad.mit.edu	37	19	13941042	13941042	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:13941042T>C	uc002mxh.1	+	12	2337	c.2148T>C	c.(2146-2148)taT>taC	p.Y716Y	ZSWIM4_uc010xng.1_Silent_p.Y639Y	NM_023072	NP_075560	Q9H7M6	ZSWM4_HUMAN	Homo sapiens zinc finger, SWIM-type containing 4 (ZSWIM4), mRNA.	716							zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			AGAACTGGTATTCCTTATTCA	0.602000														32			10		0	0	1	0	0
ZBTB46	140685	broad.mit.edu	37	20	62384176	62384176	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:62384176G>T	uc002ygv.2	-	3	1462	c.1261C>A	c.(1261-1263)Ccg>Acg	p.P421T	ZBTB46_uc002ygu.3_Non-coding_Transcript	NM_025224	NP_079500	Q86UZ6	ZBT46_HUMAN	Homo sapiens zinc finger and BTB domain containing 46 (ZBTB46), mRNA.	421					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					CTGCAGTACGGACACTTGAAC	0.607000														20			13		6.31663e-08	7.34157e-08	1	1	0
DNAH9	1770	broad.mit.edu	37	17	11872633	11872633	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:11872633A>G	uc002gne.3	+	68	13318	c.13250A>G	c.(13249-13251)gAg>gGg	p.E4417G	DNAH9_uc010coo.3_Missense_Mutation_p.E3635G|DNAH9_uc002gnf.3_Missense_Mutation_p.E729G	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	4417					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		ATCATTACAGAGGCAAAGCTG	0.522000														82			6		0	0	1	0	0
SULF2	55959	broad.mit.edu	37	20	46318928	46318928	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:46318928C>T	uc002xto.3	-	4	1009	c.679G>A	c.(679-681)Ggc>Agc	p.G227S	SULF2_uc002xtr.3_Missense_Mutation_p.G227S|SULF2_uc002xtq.3_Missense_Mutation_p.G227S|SULF2_uc010ghv.1_Missense_Mutation_p.G227S	NM_018837	NP_061325	Q8IWU5	SULF2_HUMAN	Homo sapiens sulfatase 2 (SULF2), transcript variant 1, mRNA.	227					bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	Golgi stack|cell surface|endoplasmic reticulum|extracellular space	arylsulfatase activity|calcium ion binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						TCCTCAGGGCCGTGGGGGGCT	0.567000														27			19		0	0	1	0	0
VPS36	51028	broad.mit.edu	37	13	53008987	53008987	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:53008987G>A	uc001vgs.3	-	4	416	c.382C>T	c.(382-384)Caa>Taa	p.Q128*	VPS36_uc001vgq.3_Nonsense_Mutation_p.Q70*	NM_016075	NP_057159	Q86VN1	VPS36_HUMAN	Homo sapiens vacuolar protein sorting 36 homolog (S. cerevisiae) (VPS36), mRNA.	128	GLUE C-terminal.				cellular membrane organization|endosome transport|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|late endosome|membrane|nucleus	lipid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	17		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.14e-08)		CATCTTCTTTGTGTCATTTCC	0.333000														78			84		0	0	1	0	0
C12orf44	60673	broad.mit.edu	37	12	52470759	52470759	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:52470759C>A	uc001rzu.4	+	3	917	c.442C>A	c.(442-444)Ctc>Atc	p.L148I	C12orf44_uc009zmd.3_Missense_Mutation_p.L148I|bpl_41-16_uc009zme.2_5'Flank	NM_021934	NP_068753	Q9BSB4	ATGA1_HUMAN	Homo sapiens chromosome 12 open reading frame 44 (C12orf44), transcript variant 1, mRNA.	148					autophagic vacuole assembly	pre-autophagosomal structure	identical protein binding|protein complex binding			endometrium(1)|lung(2)|ovary(1)	4				BRCA - Breast invasive adenocarcinoma(357;0.0978)		GGGTGAGAAACTCTGCGAGAA	0.567000														42			4		0.150653	0.152248	1	1	0
STAB1	23166	broad.mit.edu	37	3	52556370	52556370	+	Missense_Mutation	SNP	G	A	A	rs141937769		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52556370G>A	uc003dej.3	+	59	6564	c.6490G>A	c.(6490-6492)Gca>Aca	p.A2164T	STAB1_uc003dek.1_Missense_Mutation_p.A179T|STAB1_uc003del.3_Missense_Mutation_p.A51T	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	Homo sapiens stabilin 1 (STAB1), mRNA.	2164	EGF-like 16.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		TGAGTGCCACGCAGGCTACGT	0.647000														33			13		0	0	1	0	0
CCDC144C	348254	broad.mit.edu	37	17	20269165	20269165	+	RNA	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:20269165G>T	uc010cqy.1	+	11		c.3332G>T								Homo sapiens coiled-coil domain containing 144C (CCDC144C), non-coding RNA.											breast(2)|endometrium(1)|kidney(4)|lung(4)|prostate(1)|urinary_tract(1)	13						AAAGCTAACAGTCAAGAAAAG	0.388000														45			16		1.15088e-07	1.32926e-07	1	1	0
FAM109B	150368	broad.mit.edu	37	22	42473371	42473371	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:42473371G>A	uc003bbz.3	+	2	261	c.74G>A	c.(73-75)cGc>cAc	p.R25H	FAM109B_uc021wqi.1_Missense_Mutation_p.R25H|C22orf32_uc003bca.3_5'Flank	NM_001002034	NP_001002034	Q6ICB4	SESQ2_HUMAN	Homo sapiens family with sequence similarity 109, member B (FAM109B), mRNA.	25	PH.				endosome organization|receptor recycling|retrograde transport, endosome to Golgi	clathrin-coated vesicle|early endosome|recycling endosome|trans-Golgi network	protein homodimerization activity			endometrium(2)|large_intestine(2)|liver(2)|lung(1)|prostate(1)	8						GGCTTCCTGCGCACCTGGGGG	0.622000														49			31		0	0	1	0	0
ALMS1	7840	broad.mit.edu	37	2	73829483	73829483	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:73829483C>T	uc002sje.1	+	19	12394	c.12283C>T	c.(12283-12285)Ctg>Ttg	p.L4095L	ALMS1_uc002sjf.1_Silent_p.L4053L|ALMS1_uc002sjh.1_Silent_p.L3483L	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Homo sapiens Alstrom syndrome 1 (ALMS1), mRNA.	4095					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						CATGTGCCCGCTGCCCAAGAG	0.582000														42			6		0	0	1	0	0
MRPL14	64928	broad.mit.edu	37	6	44081740	44081740	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:44081740C>T	uc003owp.3	-	2	407	c.278G>A	c.(277-279)gGc>gAc	p.G93D		NM_032111	NP_115487	Q6P1L8	RM14_HUMAN	Homo sapiens mitochondrial ribosomal protein L14 (MRPL14), nuclear gene encoding mitochondrial protein, mRNA.	93					translation	mitochondrion|ribosome	structural constituent of ribosome	p.P92A(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	12	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0181)			CATTCGGGGGCCAGGCATGCA	0.557000														91			55		0	0	1	0	0
GDF5OS	554250	broad.mit.edu	37	20	34021926	34021926	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:34021926G>A	uc002xcj.3	+	1	412	c.337G>A	c.(337-339)Gca>Aca	p.A113T	GDF5_uc010gfc.1_Silent_p.C429C|GDF5_uc002xck.1_Silent_p.C429C					Homo sapiens growth differentiation factor 5 opposite strand, mRNA (cDNA clone MGC:99835 IMAGE:6650156), complete cds.											cervix(1)|endometrium(4)|lung(4)	9						ACAGCCCCTCGCAGTGGAAAG	0.587000														38			22		0	0	1	0	0
EI24	9538	broad.mit.edu	37	11	125452284	125452284	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:125452284C>T	uc009zbl.3	+	9	1070	c.828C>T	c.(826-828)agC>agT	p.S276S	EI24_uc001qca.3_Silent_p.S276S|EI24_uc001qcb.3_Missense_Mutation_p.A239V|EI24_uc010sbd.2_Non-coding_Transcript|EI24_uc010sbe.2_Silent_p.S262S|EI24_uc010sbf.2_Non-coding_Transcript	NM_004879	NP_004870	O14681	EI24_HUMAN	Homo sapiens etoposide induced 2.4 mRNA (EI24), transcript variant 1, mRNA.	276					apoptosis|autophagy|induction of apoptosis|negative regulation of cell growth	endoplasmic reticulum membrane|integral to membrane|nuclear membrane				large_intestine(1)|lung(9)|ovary(1)	11	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.64e-07)|OV - Ovarian serous cystadenocarcinoma(99;0.0975)		TCATTATCAGCGCCAATGAAG	0.368000														5			3		0	0	1	0	0
PRKAA1	5562	broad.mit.edu	37	5	40764715	40764715	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:40764715G>A	uc003jmb.3	-	8	1387	c.1381C>T	c.(1381-1383)Cga>Tga	p.R461*	PRKAA1_uc003jmc.3_Nonsense_Mutation_p.R446*	NM_206907	NP_996790	Q13131	AAPK1_HUMAN	Homo sapiens protein kinase, AMP-activated, alpha 1 catalytic subunit (PRKAA1), transcript variant 2, mRNA.	446					activation of MAPK activity|cell cycle arrest|cholesterol biosynthetic process|fatty acid biosynthetic process|insulin receptor signaling pathway|negative regulation of glucosylceramide biosynthetic process|positive regulation of anti-apoptosis|positive regulation of cholesterol biosynthetic process|regulation of fatty acid oxidation|response to hypoxia	cytosol	ATP binding|cAMP-dependent protein kinase activity|metal ion binding|protein binding			breast(1)	1					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Phenformin(DB00914)	TTCTTCCTTCGTACACGCAAA	0.353000														48			4		0	0	1	0	0
OTOGL	283310	broad.mit.edu	37	12	80647251	80647251	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:80647251G>A	uc001szd.3	+	12	1270	c.1264G>A	c.(1264-1266)Gta>Ata	p.V422I		NM_173591	NP_775862			Homo sapiens otogelin-like (OTOGL), mRNA.											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						ATTAGGCCTCGTAATGGACAA	0.328000														34			14		0	0	1	0	0
KHNYN	23351	broad.mit.edu	37	14	24901675	24901675	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:24901675G>A	uc010tpc.2	+	2	1347	c.1331G>A	c.(1330-1332)gGc>gAc	p.G444D	KHNYN_uc001wph.4_Missense_Mutation_p.G403D|KHNYN_uc010alw.3_Missense_Mutation_p.G403D|CBLN3_uc001wpg.4_5'Flank	NM_015299	NP_056114	O15037	KHNYN_HUMAN	Homo sapiens KH and NYN domain containing (KHNYN), mRNA.	403										kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(3)	24						TGGAAACGAGGCGCCCGAGGG	0.657000											OREG0022627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		15			11		0	0	1	0	0
RSF1	51773	broad.mit.edu	37	11	77412657	77412657	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:77412657A>G	uc001oyn.3	-	5	1737	c.1617T>C	c.(1615-1617)acT>acC	p.T539T	RSF1_uc001oym.3_Silent_p.T287T	NM_016578	NP_057662	Q96T23	RSF1_HUMAN	Homo sapiens remodeling and spacing factor 1 (RSF1), mRNA.	539					CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding	p.E538D(1)		breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			AATCAAGAGAAGTTTCCATTT	0.413000														168			90		0	0	1	0	0
ELMOD2	255520	broad.mit.edu	37	4	141446679	141446679	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:141446679C>T	uc003iik.3	+	1	229	c.97C>T	c.(97-99)Cga>Tga	p.R33*		NM_153702	NP_714913	Q8IZ81	ELMD2_HUMAN	Homo sapiens ELMO/CED-12 domain containing 2 (ELMOD2), mRNA.	33					phagocytosis|regulation of defense response to virus|response to virus	cytoskeleton	GTPase activator activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	7	all_hematologic(180;0.162)					TGAATTGCAGCGAATATTTGA	0.343000														64			37		0	0	1	0	0
SMARCC1	6599	broad.mit.edu	37	3	47629740	47629740	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:47629740G>T	uc003crq.2	-	27	3395	c.3277C>A	c.(3277-3279)Ccg>Acg	p.P1093T	SMARCC1_uc011bbc.1_Non-coding_Transcript|SMARCC1_uc011bbd.1_Missense_Mutation_p.P984T	NM_003074	NP_003065	Q92922	SMRC1_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1 (SMARCC1), mRNA.	1093	Pro-rich.				chromatin remodeling|nervous system development|transcription, DNA-dependent	SWI/SNF complex|WINAC complex|nBAF complex|npBAF complex|nucleoplasm	DNA binding|protein N-terminus binding|transcription coactivator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		GCAGGAGGCGGAGGGACCCCA	0.597000														25			15		2.31682e-05	2.55671e-05	1	1	0
VPS13C	54832	broad.mit.edu	37	15	62199530	62199530	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:62199530T>C	uc002agz.3	-	65	9129	c.9038A>G	c.(9037-9039)gAt>gGt	p.D3013G	VPS13C_uc002aha.3_Missense_Mutation_p.D2970G|VPS13C_uc002ahb.2_Missense_Mutation_p.D3013G|VPS13C_uc002ahc.2_Missense_Mutation_p.D2970G|VPS13C_uc002ahd.1_Missense_Mutation_p.D390G	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog C (S. cerevisiae) (VPS13C), transcript variant 2A, mRNA.	3013					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						ACCAGTAGGATCTGCCCAGGC	0.413000														56			37		0	0	1	0	0
ATP9A	10079	broad.mit.edu	37	20	50292706	50292706	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:50292706G>A	uc002xwg.1	-	9	841	c.841C>T	c.(841-843)Cgg>Tgg	p.R281W	ATP9A_uc010gih.1_Missense_Mutation_p.R145W|ATP9A_uc002xwf.1_5'UTR	NM_006045	NP_006036	O75110	ATP9A_HUMAN	Homo sapiens ATPase, class II, type 9A (ATP9A), mRNA.	281					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						ATGACACTCCGGAGTTCTCTG	0.443000														38			5		0	0	1	0	0
SPAG9	9043	broad.mit.edu	37	17	49067917	49067917	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:49067917G>T	uc002itc.3	-	19	2720	c.2511C>A	c.(2509-2511)agC>agA	p.S837R	SPAG9_uc002itd.3_Missense_Mutation_p.S827R|SPAG9_uc002itb.3_Missense_Mutation_p.S823R|SPAG9_uc002itf.3_Missense_Mutation_p.S658R|SPAG9_uc002ita.3_Missense_Mutation_p.S680R|SPAG9_uc002ite.3_Missense_Mutation_p.S667R	NM_001130528	NP_001124000	O60271	JIP4_HUMAN	Homo sapiens sperm associated antigen 9 (SPAG9), transcript variant 1, mRNA.	837					positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis	acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm				NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			CTCCTAACAGGCTGTCTGTCT	0.488000														33			29		1.5548e-18	1.99422e-18	1	1	0
FAM13B	51306	broad.mit.edu	37	5	137289855	137289855	+	Splice_Site	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:137289855C>A	uc003lbz.2	-	14	2186	c.1652_splice	c.e14+1	p.R551_splice	FAM13B_uc003lcb.2_Splice_Site_p.R455_splice|FAM13B_uc003lca.2_Splice_Site_p.R551_splice	NM_016603	NP_057687	Q9NYF5	FA13B_HUMAN	Homo sapiens family with sequence similarity 13, member B (FAM13B), transcript variant 1, mRNA.	551					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			endometrium(4)|kidney(2)|lung(5)	11						AATCATATACCTAGTAAAAGA	0.388000														41			5		0.00116845	0.00123466	1	1	0
SNX15	29907	broad.mit.edu	37	11	64799950	64799950	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:64799950C>T	uc001oci.4	+	5	837	c.183C>T	c.(181-183)gaC>gaT	p.D61D	SNX15_uc001ock.3_Silent_p.D61D	NM_013306	NP_037438	Q9NRS6	SNX15_HUMAN	Homo sapiens sorting nexin 15 (SNX15), transcript variant A, mRNA.	61	PX.				cell communication|intracellular protein transport	cytoplasmic vesicle membrane|cytosol	phosphatidylinositol binding|protein transporter activity			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14						TGCATGGAGACCTGGCCTACA	0.622000														22			17		0	0	1	0	0
ITPKB	3707	broad.mit.edu	37	1	226822474	226822474	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:226822474G>A	uc010pvo.2	-	7	3079	c.2739C>T	c.(2737-2739)gaC>gaT	p.D913D		NM_002221	NP_002212	P27987	IP3KB_HUMAN	Homo sapiens inositol-trisphosphate 3-kinase B (ITPKB), mRNA.	913							ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				GCCAGGGGACGTCATGCTGCA	0.607000														14			11		0	0	1	0	0
ZC3H13	23091	broad.mit.edu	37	13	46619132	46619132	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:46619132C>T	uc010tfw.1	-	1	191	c.185G>A	c.(184-186)gGc>gAc	p.G62D	ZC3H13_uc001vas.1_Missense_Mutation_p.G62D|ZC3H13_uc001vat.1_Missense_Mutation_p.G62D	NM_015070	NP_055885	Q5T200	ZC3HD_HUMAN	Homo sapiens zinc finger CCCH-type containing 13 (ZC3H13), mRNA.	62							nucleic acid binding|zinc ion binding	p.G62G(1)		cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		AGGTGAAGGGCCATGTACGAA	0.373000														29			23		0	0	1	0	0
OASL	8638	broad.mit.edu	37	12	121461900	121461900	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:121461900C>A	uc001tzj.1	-	4	946	c.940G>T	c.(940-942)Gca>Tca	p.A314S	OASL_uc001tzk.1_Missense_Mutation_p.G233V	NM_003733	NP_003724	Q15646	OASL_HUMAN	Homo sapiens 2'-5'-oligoadenylate synthetase-like (OASL), transcript variant 1, mRNA.	314					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoplasm|nucleolus	ATP binding|DNA binding|double-stranded RNA binding|thyroid hormone receptor binding|transferase activity			NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TACCCTTCTGCCACGTTGAGG	0.557000														36			14		6.72482e-11	8.1643e-11	1	1	0
FBXO44	93611	broad.mit.edu	37	1	11718910	11718910	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:11718910C>T	uc010oar.2	+	4	703	c.577C>T	c.(577-579)Cga>Tga	p.R193*	FBXO44_uc001ask.3_Nonsense_Mutation_p.R161*|FBXO44_uc010oas.2_Silent_p.S62S|FBXO44_uc001asm.3_Silent_p.S202S|FBXO44_uc001asl.3_Silent_p.S202S|FBXO44_uc001asn.3_Nonsense_Mutation_p.R161*	NM_183413	NP_904320	Q9H4M3	FBX44_HUMAN	Homo sapiens F-box protein 44 (FBXO44), transcript variant 3, mRNA.	0	FBA.				protein catabolic process	SCF ubiquitin ligase complex	protein binding			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	8	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.41e-06)|COAD - Colon adenocarcinoma(227;0.000255)|BRCA - Breast invasive adenocarcinoma(304;0.0003)|Kidney(185;0.000758)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		AGCAGAAGAGCGATGCCAAGT	0.657000														31			18		0	0	1	0	0
SLC1A2	6506	broad.mit.edu	37	11	35339032	35339032	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:35339032G>A	uc001mwd.3	-	1	641	c.49C>T	c.(49-51)Cga>Tga	p.R17*	SLC1A2_uc021qfx.1_Nonsense_Mutation_p.R8*|SLC1A2_uc001mwe.3_Nonsense_Mutation_p.R8*|SLC1A2_uc010rev.1_Nonsense_Mutation_p.R17*|SLC1A2_uc021qfy.1_Nonsense_Mutation_p.R62*	NM_004171	NP_001239581	P43004	EAA2_HUMAN	Homo sapiens solute carrier family 1 (glial high affinity glutamate transporter), member 2 (SLC1A2), transcript variant 1, mRNA.	17					D-aspartate import|L-glutamate import|synaptic transmission	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|urinary_tract(1)	24	all_lung(20;0.211)|all_epithelial(35;0.234)	all_hematologic(20;0.109)	STAD - Stomach adenocarcinoma(6;0.00731)		L-Glutamic Acid(DB00142)	TCGTGCATTCGCACTTCCACC	0.562000														182			19		0	0	1	0	0
MYO5B	4645	broad.mit.edu	37	18	47431075	47431075	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:47431075G>T	uc002leb.2	-	19	2826	c.2538C>A	c.(2536-2538)acC>acA	p.T846T	MYO5B_uc002lea.2_5'Flank	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	Homo sapiens myosin VB (MYO5B), mRNA.	846	Arg-rich.|IQ 3.|IQ 4.				protein transport	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		ACATGGCCCGGGTGAAGGCCT	0.582000														41			6		0.00116845	0.00123466	1	1	0
TCRDV2	0	broad.mit.edu	37	14	22919132	22919132	+	Splice_Site	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:22919132G>A	uc001wdx.4	+	1	51	c.-35_splice	c.e1+1		TCRA_uc001wbw.2_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Intron|TCRA_uc001wco.3_Intron|TCRA_uc010aje.1_Intron|TCRA_uc001wcp.2_Intron|TCRA_uc001wcr.1_Intron|TCRA_uc001wcs.1_Intron|TCRA_uc010ajf.1_Intron|TCRA_uc001wcu.4_Intron|TCRA_uc021rpn.1_Intron|TCRA_uc001wcx.4_Intron|TCRA_uc021rpr.1_Intron|TCRA_uc001wdd.2_Intron|TCRA_uc010ajj.1_Intron|TCRA_uc001wde.1_Intron|TCRA_uc010ajk.2_Intron|TCRA_uc001wdg.1_Intron|TCRA_uc021rpt.1_Intron|TCRA_uc010ajl.1_Intron|AV4S1_uc021rpv.1_Intron|TCRA_uc010ajo.1_Intron|TCRA_uc010ajp.1_Intron|TCRA_uc021rpw.1_Intron|TRAV38-2DV8_uc010tmr.2_Intron|AK093552_uc001wds.1_Intron|TCRA_uc001wdv.4_Intron|TCRDV2_uc001wdw.2_Intron					RecName: Full=T-cell receptor delta chain C region;																		GTGGAACCAAGTAAGTAACTC	0.438000														31			18		0	0	1	0	0
PROX1	5629	broad.mit.edu	37	1	214171247	214171247	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:214171247G>A	uc001hkh.3	+	1	1641	c.1369G>A	c.(1369-1371)Gct>Act	p.A457T	PROX1_uc001hkg.1_Missense_Mutation_p.A457T	NM_002763	NP_002754	Q92786	PROX1_HUMAN	Homo sapiens prospero homeobox 1 (PROX1), mRNA.	457				PAA -> LV (in Ref. 1; AAC50656).	aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of S phase of mitotic cell cycle|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		CGGCCCTGCCGCTGGCGGCCA	0.642000														86			9		0	0	1	0	0
CCNDBP1	23582	broad.mit.edu	37	15	43481449	43481449	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:43481449C>T	uc001zqv.3	+	3	533	c.302C>T	c.(301-303)gCa>gTa	p.A101V	CCNDBP1_uc021sjs.1_5'UTR|CCNDBP1_uc010udl.2_5'UTR|CCNDBP1_uc021sjt.1_5'UTR|CCNDBP1_uc021sju.1_Non-coding_Transcript|CCNDBP1_uc010bdb.3_5'UTR|CCNDBP1_uc001zqy.3_5'UTR	NM_012142	NP_036274	O95273	CCDB1_HUMAN	Homo sapiens cyclin D-type binding-protein 1 (CCNDBP1), transcript variant 1, mRNA.	101	Interaction with RPLP0.|Interaction with TCF3.|Required for interaction with CCND1.				cell cycle	cytoplasm|nucleus	protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)	13		all_cancers(109;3.31e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.42e-07)		GCATTTATTGCAGTGTACTAT	0.393000														34			16		0	0	1	0	0
FOXRED1	55572	broad.mit.edu	37	11	126141551	126141551	+	Splice_Site	SNP	C	T	T	rs77785510		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:126141551C>T	uc001qdi.3	+	2	473	c.306_splice	c.e2+1	p.T102_splice	SRPR_uc001qdh.3_5'Flank|SRPR_uc010sbm.2_5'Flank|FOXRED1_uc010sbn.2_Intron|FOXRED1_uc010sbq.2_Splice_Site|FOXRED1_uc010sbo.2_Intron|FOXRED1_uc010sbp.2_Intron|FOXRED1_uc010sbr.2_Splice_Site_p.T88_splice|FOXRED1_uc001qdk.3_Splice_Site	NM_017547	NP_060017	Q96CU9	FXRD1_HUMAN	Homo sapiens FAD-dependent oxidoreductase domain containing 1 (FOXRED1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	102						integral to membrane|mitochondrion	oxidoreductase activity|protein binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	15	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0729)		CGGGACCACACGGTGAGGTCT	0.552000														43			19		0	0	1	0	0
MAB21L2	10586	broad.mit.edu	37	4	151504852	151504852	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:151504852C>T	uc003ilw.3	+	0	1776	c.671C>T	c.(670-672)tCg>tTg	p.S224L	LRBA_uc003ils.4_5'Flank|LRBA_uc003ilt.4_Intron|LRBA_uc003ilu.4_Intron|LRBA_uc010ipj.3_Intron	NM_006439	NP_006430	Q9Y586	MB212_HUMAN	Homo sapiens mab-21-like 2 (C. elegans) (MAB21L2), mRNA.	224					nervous system development	nucleus				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	21	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.159)		AAGCAGAGCTCGGCAGAGAGC	0.637000														24			24		0	0	1	0	0
GSC2	2928	broad.mit.edu	37	22	19137263	19137263	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:19137263C>A	uc011ags.2	-	1	426	c.426G>T	c.(424-426)gaG>gaT	p.E142D		NM_005315	NP_005306	O15499	GSC2_HUMAN	Homo sapiens goosecoid homeobox 2 (GSC2), mRNA.	142					anatomical structure morphogenesis|regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(1)|lung(2)	4	Colorectal(54;0.0993)					CGAAAAGCGCCTCGAGCGCCT	0.721000														3			5		0.184627	0.186034	1	1	0
OSBPL1A	114876	broad.mit.edu	37	18	21745032	21745032	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:21745032G>A	uc002kve.3	-	26	2964	c.2747C>T	c.(2746-2748)aCg>aTg	p.T916M	OSBPL1A_uc002kvd.3_Missense_Mutation_p.T403M|OSBPL1A_uc010xbc.2_Missense_Mutation_p.T534M	NM_080597	NP_542164	Q9BXW6	OSBL1_HUMAN	Homo sapiens oxysterol binding protein-like 1A (OSBPL1A), transcript variant 2, mRNA.	916					cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding	p.T916T(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					CACGCACCTCGTCTTCCAGTC	0.532000														97			84		0	0	1	0	0
GSTZ1	2954	broad.mit.edu	37	14	77793211	77793211	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:77793211C>T	uc001xtj.3	+	2	380	c.98C>T	c.(97-99)aCg>aTg	p.T33M	GSTZ1_uc001xtk.3_Missense_Mutation_p.T33M|GSTZ1_uc010ass.3_5'UTR|GSTZ1_uc001xtm.3_5'UTR	NM_145870	NP_001504	O43708	MAAI_HUMAN	Homo sapiens glutathione transferase zeta 1 (GSTZ1), transcript variant 1, mRNA.	33	GST N-terminal.				L-phenylalanine catabolic process|glutathione metabolic process|tyrosine catabolic process	cytosol|mitochondrion	glutathione peroxidase activity|glutathione transferase activity|maleylacetoacetate isomerase activity|protein homodimerization activity			lung(2)|prostate(1)	3			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)	Glutathione(DB00143)	GACTACGAGACGGTGCCCATC	0.547000														11			4		0	0	1	0	0
AOX1	316	broad.mit.edu	37	2	201531428	201531428	+	Missense_Mutation	SNP	G	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:201531428G>C	uc002uvx.3	+	31	3663	c.3562G>C	c.(3562-3564)Gtc>Ctc	p.V1188L	AOX1_uc010zhf.2_Missense_Mutation_p.V744L|AOX1_uc010fsu.3_Missense_Mutation_p.V554L	NM_001159	NP_001150	Q06278	ADO_HUMAN	Homo sapiens aldehyde oxidase 1 (AOX1), mRNA.	1188					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|NAD binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|xanthine dehydrogenase activity			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	AACAGACATTGTCATGGATGT	0.383000														53			7		0	0	1	0	0
GART	2618	broad.mit.edu	37	21	34911618	34911618	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:34911618C>T	uc002yrz.3	-	1	315	c.4G>A	c.(4-6)Gca>Aca	p.A2T	GART_uc002yrx.3_Missense_Mutation_p.A2T|GART_uc010gmd.3_5'UTR|GART_uc002yry.3_Missense_Mutation_p.A2T|GART_uc002ysa.2_Missense_Mutation_p.A2T	NM_001136005	NP_001129478	P22102	PUR2_HUMAN	Homo sapiens phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase (GART), transcript variant 3, mRNA.	2					'de novo' IMP biosynthetic process|purine base biosynthetic process	cytosol	ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding			NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1)	31					Pemetrexed(DB00642)	ACTCGGGCTGCCATTGTTCTG	0.443000														59			4		0	0	1	0	0
SHPK	23729	broad.mit.edu	37	17	3513958	3513958	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:3513958G>A	uc002fvz.1	-	6	1436	c.1333C>T	c.(1333-1335)Cag>Tag	p.Q445*	TRPV1_uc010vru.2_5'Flank	NM_013276	NP_037408	Q9UHJ6	SHPK_HUMAN	Homo sapiens sedoheptulokinase (SHPK), mRNA.	445					carbohydrate metabolic process	cytoplasm	ATP binding|sedoheptulokinase activity			breast(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				COAD - Colon adenocarcinoma(5;0.0828)		AAAGCCCTCTGCACCTCCTGC	0.602000														87			27		0	0	1	0	0
ZFP112	7771	broad.mit.edu	37	19	44891167	44891167	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:44891167C>T	uc010xxa.2	-	3	1304	c.1261G>A	c.(1261-1263)Gtt>Att	p.V421I	ZFP112_uc010xwz.2_Intron|ZFP112_uc002ozd.4_Missense_Mutation_p.V414I	NM_152354	NP_689567	Q9UJU3	ZF112_HUMAN	Homo sapiens zinc finger protein 285 (ZNF285), mRNA.	707					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(1)|lung(8)|ovary(3)|prostate(4)|skin(3)	41						ACTTGAAGAACGGAGCTTGAA	0.488000														26			21		0	0	1	0	0
DNAJB3	414061	broad.mit.edu	37	2	234652377	234652377	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:234652377G>A	uc002vuz.3	-	0	285	c.186C>T	c.(184-186)cgC>cgT	p.R62R	UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Intron|UGT1A1_uc002vur.3_Intron|UGT1A1_uc010zmw.1_Intron|UGT1A1_uc002vus.3_Intron|UGT1A1_uc010zmx.1_Intron|UGT1A1_uc002vut.3_Intron|UGT1A1_uc002vuu.3_Intron|UGT1A1_uc010zmy.1_Intron|UGT1A1_uc002vuv.4_Intron|UGT1A1_uc010zmz.1_Intron|UGT1A1_uc002vuw.3_Intron|UGT1A1_uc010zna.1_Intron|UGT1A1_uc002vux.3_Intron|UGT1A1_uc010znb.1_Intron|UGT1A1_uc002vuy.3_Intron	NM_001001394	NP_001001394	Q8WWF6	DNJB3_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 3 (DNAJB3), mRNA.	62	J.				protein folding		heat shock protein binding|unfolded protein binding										CATAGATATCGCGTTTCTTGG	0.627000														112			64		0	0	1	0	0
CEP68	23177	broad.mit.edu	37	2	65309818	65309818	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:65309818G>T	uc002sdl.4	+	5	2467	c.2253G>T	c.(2251-2253)gaG>gaT	p.E751D	CEP68_uc010yqb.1_3'UTR|CEP68_uc002sdk.4_Missense_Mutation_p.E614D|CEP68_uc010yqc.2_Missense_Mutation_p.E751D	NM_015147	NP_055962	Q76N32	CEP68_HUMAN	Homo sapiens centrosomal protein 68kDa (CEP68), mRNA.	751					centrosome organization	centrosome		p.M750T(1)		breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						CGGCAATGGAGCACCCATGTG	0.512000														73			32		9.78485e-24	1.27607e-23	1	1	0
MECOM	2122	broad.mit.edu	37	3	168849257	168849257	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:168849257G>A	uc011bpj.1	-	3	976	c.573C>T	c.(571-573)agC>agT	p.S191S	MECOM_uc010hwk.1_Silent_p.S26S|MECOM_uc003ffj.3_Silent_p.S67S|MECOM_uc003ffi.3_Silent_p.S3S|MECOM_uc011bpi.1_Silent_p.S3S|MECOM_uc003ffn.3_Silent_p.S3S|MECOM_uc003ffk.2_Silent_p.S3S|MECOM_uc003ffl.2_Silent_p.S163S|MECOM_uc011bpk.1_Silent_p.S3S|MECOM_uc010hwn.2_Silent_p.S191S|MECOM_uc003ffm.1_Silent_p.S67S	NM_004991	NP_004982	Q13465	MDS1_HUMAN	Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA.	98							sequence-specific DNA binding transcription factor activity	p.C190G(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						GATAGTCTTCGCTCTTCATGA	0.458000														25			16		0	0	1	0	0
ACVR1	90	broad.mit.edu	37	2	158622483	158622483	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:158622483C>A	uc002tzn.3	-	7	1446	c.1016G>T	c.(1015-1017)aGc>aTc	p.S339I	ACVR1_uc002tzm.3_Missense_Mutation_p.S339I|ACVR1_uc010fog.2_Missense_Mutation_p.S339I	NM_001105	NP_001104537	Q04771	ACVR1_HUMAN	Homo sapiens activin A receptor, type I (ACVR1), transcript variant 1, mRNA.	339	Protein kinase.				BMP signaling pathway|G1/S transition of mitotic cell cycle|negative regulation of activin receptor signaling pathway|negative regulation of apoptosis|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	activin receptor complex	ATP binding|SMAD binding|activin binding|follistatin binding|metal ion binding|protein homodimerization activity|transforming growth factor beta binding			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	19				BRCA - Breast invasive adenocarcinoma(221;0.104)	Adenosine triphosphate(DB00171)	AATATTTTTGCTCTTTAAATC	0.368000														65			8		0.0477658	0.0485825	1	1	0
PRRC2A	7916	broad.mit.edu	37	6	31600228	31600228	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31600228C>T	uc003nvb.4	+	15	4027	c.3778C>T	c.(3778-3780)Ctg>Ttg	p.L1260L	PRRC2A_uc011dnv.1_Intron|PRRC2A_uc003nvc.4_Silent_p.L1260L	NM_080686	NP_542417	P48634	PRC2A_HUMAN	Homo sapiens proline-rich coiled-coil 2A (PRRC2A), transcript variant 1, mRNA.	1260	4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						TTTCCGGAGGCTGAAGCAGGA	0.622000														58			6		0	0	1	0	0
HSP90B1	7184	broad.mit.edu	37	12	104337581	104337581	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:104337581C>T	uc001tkb.1	+	13	2061	c.1956C>T	c.(1954-1956)taC>taT	p.Y652Y	HSP90B1_uc010swg.1_Silent_p.Y317Y|HSP90B1_uc009zui.1_Intron	NM_003299	NP_003290	P14625	ENPL_HUMAN	Homo sapiens heat shock protein 90kDa beta (Grp94), member 1 (HSP90B1), mRNA.	652					ER-associated protein catabolic process|actin rod assembly|anti-apoptosis|cellular response to ATP|protein folding|protein transport|regulation of phosphoprotein phosphatase activity|response to hypoxia|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|melanosome|microsome|midbody|perinuclear region of cytoplasm	ATP binding|RNA binding|calcium ion binding|low-density lipoprotein particle receptor binding|protein phosphatase binding|unfolded protein binding|virion binding			central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4)	29					Rifabutin(DB00615)	CCAGCCAGTACGGATGGTCTG	0.473000														17			15		0	0	1	0	0
ZBTB11	27107	broad.mit.edu	37	3	101378786	101378786	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:101378786C>T	uc003dve.4	-	5	2117	c.1887G>A	c.(1885-1887)tcG>tcA	p.S629S		NM_014415	NP_055230	O95625	ZBT11_HUMAN	Homo sapiens zinc finger and BTB domain containing 11 (ZBTB11), mRNA.	629					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TGGAATTGGACGAGGATGAAG	0.398000														39			26		0	0	1	0	0
UBASH3A	53347	broad.mit.edu	37	21	43857619	43857619	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:43857619G>T	uc002zbe.3	+	10	1499	c.1415G>T	c.(1414-1416)gGt>gTt	p.G472V	UBASH3A_uc002zbf.3_Missense_Mutation_p.G434V|UBASH3A_uc010gpe.3_Missense_Mutation_p.G434V|UBASH3A_uc010gpc.3_Non-coding_Transcript|UBASH3A_uc010gpd.3_Intron	NM_018961	NP_061834	P57075	UBS3A_HUMAN	Homo sapiens ubiquitin associated and SH3 domain containing A (UBASH3A), transcript variant 1, mRNA.	472	Phosphatase-like.					cytosol|nucleus				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						CTGGACAGTGGTATCAGAATC	0.537000														31			14		1.3612e-06	1.54683e-06	1	1	0
NOTCH1	4851	broad.mit.edu	37	9	139393414	139393414	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:139393414G>A	uc004chz.3	-	32	6117	c.6117C>T	c.(6115-6117)aaC>aaT	p.N2039N		NM_017617	NP_060087	P46531	NOTC1_HUMAN	Homo sapiens notch 1 (NOTCH1), mRNA.	2039					Notch receptor processing|aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.V2039L(2)|p.V2039E(1)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CATCCACATTGTTCACGGCGG	0.617000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)				107			11		0	0	1	0	0
APOBEC3D	140564	broad.mit.edu	37	22	39425374	39425374	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:39425374G>A	uc003awt.4	+	4	1019	c.612G>A	c.(610-612)ccG>ccA	p.P204P	APOBEC3D_uc010gxu.3_5'UTR|APOBEC3D_uc003awu.4_Intron	NM_152426	NP_689639	Q96AK3	ABC3D_HUMAN	Homo sapiens apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D (APOBEC3D), mRNA.	204					negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)	11	Melanoma(58;0.04)					TCAGAAACCCGATGGAGGCAA	0.522000														64			19		0	0	1	0	0
ZNF34	80778	broad.mit.edu	37	8	145999691	145999691	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:145999691G>A	uc003zdy.4	-	5	745	c.643C>T	c.(643-645)Cgt>Tgt	p.R215C	ZNF34_uc010mgb.3_Missense_Mutation_p.R112C|ZNF34_uc003zdx.4_Missense_Mutation_p.R194C	NM_030580	NP_085057	Q8IZ26	ZNF34_HUMAN	Homo sapiens zinc finger protein 34 (ZNF34), mRNA.	215					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(1)	11	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.221)	OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;5.18e-38)|all cancers(56;4.41e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.0179)		CTGTGTACACGCTTATGGTTG	0.388000														20			11		0	0	1	0	0
AKAP17A	8227	broad.mit.edu	37	X	1712677	1712677	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:1712677G>A	uc004cqa.3	+	1	518	c.322G>A	c.(322-324)Gac>Aac	p.D108N	AKAP17A_uc010ncx.1_Missense_Mutation_p.D108N|AKAP17A_uc004cqb.3_Non-coding_Transcript|ASMT_uc004cqd.3_5'Flank	NM_005088	NP_005079	Q02040	AK17A_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 17A (AKAP17A), transcript variant 1, mRNA.	108	PKA-RI and PKA-RII subunit binding domain.				B cell activation|RNA splicing|mRNA processing|regulation of transcription, DNA-dependent|signal transduction	nuclear speck|spliceosomal complex	RNA binding|nucleotide binding|protein binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)	26						CGGCTTCTCCGACATCCTGAA	0.607000														88			48		0	0	1	0	0
ARHGAP44	9912	broad.mit.edu	37	17	12823149	12823149	+	Splice_Site	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:12823149G>A	uc002gnr.4	+	6	791	c.464_splice	c.e6+1	p.R155_splice	ARHGAP44_uc010vvk.2_Splice_Site_p.R155_splice|ARHGAP44_uc010vvl.2_Splice_Site_p.R155_splice|ARHGAP44_uc002gns.4_Splice_Site|ARHGAP44_uc010vvm.2_Splice_Site_p.R155_splice|ARHGAP44_uc010vvn.2_Splice_Site	NM_014859	NP_055674	Q17R89	RHG44_HUMAN	Homo sapiens Rho GTPase activating protein 44 (ARHGAP44), mRNA.	155	BAR.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						CACGAACCAGGTAGAATCTCT	0.403000														11			6		0	0	1	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33549430	33549430	+	Missense_Mutation	SNP	C	T	T	rs147732973		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:33549430C>T	uc003jia.1	-	20	4347	c.4184G>A	c.(4183-4185)cGg>cAg	p.R1395Q	ADAMTS12_uc010iuq.1_Missense_Mutation_p.R1310Q	NM_030955	NP_112217	P58397	ATS12_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 12 (ADAMTS12), mRNA.	1395	TSP type-1 6.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						CCGGTGGTCCCGGCTGTCCAC	0.572000										HNSCC(64;0.19)				75			6		0	0	1	0	0
AGAP2	116986	broad.mit.edu	37	12	58126751	58126751	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:58126751C>T	uc001spq.3	-	5	1561	c.1561G>A	c.(1561-1563)Gct>Act	p.A521T	AGAP2_uc001spp.3_Missense_Mutation_p.A521T|AGAP2_uc001spr.3_Missense_Mutation_p.A185T	NM_001122772	NP_001116244	Q99490	AGAP2_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 2 (AGAP2), transcript variant 1, mRNA.	521	G domain.				axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	mitochondrion|nucleolus	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						GGGGAGGAAGCACTGATCCTG	0.552000														154			82		0	0	1	0	0
PSAP	5660	broad.mit.edu	37	10	73581732	73581732	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:73581732G>T	uc001jsm.3	-	7	914	c.810C>A	c.(808-810)ttC>ttA	p.F270L		NM_002778	NP_002769	P07602	SAP_HUMAN	Homo sapiens prosaposin (PSAP), transcript variant 1, mRNA.	270	Saposin B-type 2.				glycosphingolipid metabolic process|lipid transport|platelet activation|platelet degranulation	Golgi apparatus|extracellular space|integral to membrane|lysosomal lumen	enzyme activator activity|lipid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	13						CCTCATCACAGAACCCAACCA	0.567000														28			12		0.0931896	0.0946486	1	1	0
MARC1	64757	broad.mit.edu	37	1	220971352	220971352	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:220971352C>T	uc001hmt.3	+	3	997	c.749C>T	c.(748-750)gCa>gTa	p.A250V	MARC1_uc001hms.3_Missense_Mutation_p.A250V	NM_022746	NP_073583	Q5VT66	MOSC1_HUMAN	Homo sapiens mitochondrial amidoxime reducing component 1 (MARC1), nuclear gene encoding mitochondrial protein, mRNA.	250	MOSC.						molybdenum ion binding|oxidoreductase activity|pyridoxal phosphate binding										GATGTCTATGCAGAGGTAACA	0.428000														204			10		0	0	1	0	0
LUC7L3	51747	broad.mit.edu	37	17	48821079	48821079	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:48821079G>T	uc002isq.3	+	5	607	c.439G>T	c.(439-441)Ggg>Tgg	p.G147W	LUC7L3_uc002isp.2_Non-coding_Transcript|LUC7L3_uc010wmw.2_Missense_Mutation_p.G71W|LUC7L3_uc002isr.3_Missense_Mutation_p.G147W|LUC7L3_uc002iss.3_Missense_Mutation_p.G147W	NM_016424	NP_057508	O95232	LC7L3_HUMAN	Homo sapiens LUC7-like 3 (S. cerevisiae) (LUC7L3), transcript variant 1, mRNA.	147					RNA splicing|apoptosis|mRNA processing|response to stress	focal adhesion|nuclear speck	DNA binding|mRNA binding|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	12						TGAAGAATTAGGGTCTGAAGG	0.378000														35			4		0.150653	0.152248	1	1	0
TSEN34	79042	broad.mit.edu	37	19	54695428	54695428	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:54695428C>A	uc010yeo.2	+	1	302	c.213C>A	c.(211-213)gcC>gcA	p.A71A	MBOAT7_uc002qdq.3_5'Flank|MBOAT7_uc002qdr.3_5'Flank|MBOAT7_uc002qds.3_5'Flank|MBOAT7_uc010yen.2_5'Flank|MBOAT7_uc002qdt.4_5'Flank|TSEN34_uc002qdu.3_Silent_p.A71A|TSEN34_uc002qdv.3_Silent_p.A71A|TSEN34_uc002qdw.3_Silent_p.A71A	NM_024075	NP_076980	Q9BSV6	SEN34_HUMAN	Homo sapiens tRNA splicing endonuclease 34 homolog (S. cerevisiae) (TSEN34), transcript variant 1, mRNA.	71					mRNA processing|tRNA-type intron splice site recognition and cleavage	nucleolus|tRNA-intron endonuclease complex	nucleic acid binding|tRNA-intron endonuclease activity			endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	10	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					TGGTCAGCGCCCCGCGTCCAG	0.701000														23			14		3.27435e-08	3.82583e-08	1	1	0
COL4A6	1288	broad.mit.edu	37	X	107554055	107554055	+	Nonsense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:107554055C>A	uc004enw.4	-	2	173	c.70G>T	c.(70-72)Gag>Tag	p.E24*	COL4A6_uc004env.4_Nonsense_Mutation_p.E23*|COL4A6_uc011msn.2_Nonsense_Mutation_p.E23*|COL4A6_uc010npk.3_Nonsense_Mutation_p.E23*|COL4A6_uc004enx.2_Non-coding_Transcript|COL4A6_uc004eny.2_Non-coding_Transcript	NM_001847	NP_001838	Q14031	CO4A6_HUMAN	Homo sapiens collagen, type IV, alpha 6 (COL4A6), transcript variant A, mRNA.	24	7S domain.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						TAAGACTTCTCTCCCTATTAA	0.413000									Alport syndrome with Diffuse Leiomyomatosis					64			5		0.014758	0.0151755	1	1	0
GPI	2821	broad.mit.edu	37	19	34856219	34856219	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:34856219G>A	uc002nvf.3	+	1	335	c.165G>A	c.(163-165)tgG>tgA	p.W55*	GPI_uc010xrv.2_Nonsense_Mutation_p.W55*|GPI_uc002nvg.2_Nonsense_Mutation_p.W16*|GPI_uc010xrw.2_Nonsense_Mutation_p.W16*|GPI_uc002nvh.1_Missense_Mutation_p.V2I	NM_000175	NP_000166	P06744	G6PI_HUMAN	Homo sapiens glucose-6-phosphate isomerase (GPI), transcript variant 2, mRNA.	16					angiogenesis|gluconeogenesis|glycolysis|hemostasis|humoral immune response	cytosol|extracellular space|nucleus|plasma membrane	cytokine activity|glucose-6-phosphate isomerase activity|growth factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	25	Esophageal squamous(110;0.162)					TGCAGCAATGGTACCGCGAGC	0.667000														9			8		0	0	1	0	0
TMEM59	9528	broad.mit.edu	37	1	54518691	54518691	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:54518691G>T	uc001cwq.3	-	0	421	c.171C>A	c.(169-171)ccC>ccA	p.P57P	TCEANC2_uc001cwt.1_5'Flank|TCEANC2_uc001cwu.1_5'Flank|TMEM59_uc001cwp.3_Silent_p.P57P|MIR4781_uc021ons.1_5'Flank	NM_004872	NP_004863	Q9BXS4	TMM59_HUMAN	Homo sapiens transmembrane protein 59 (TMEM59), mRNA.	57						Golgi membrane|integral to membrane				kidney(3)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7						AGGTGTGCAAGGGGTAGGTCA	0.637000														39			22		1.36565e-18	1.75266e-18	1	1	0
FMO1	2326	broad.mit.edu	37	1	171251411	171251411	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:171251411C>T	uc009wvz.3	+	6	1258	c.1122C>T	c.(1120-1122)ccC>ccT	p.P374P	FMO1_uc010pme.2_Silent_p.P311P|FMO1_uc001ghl.3_Silent_p.P374P|FMO1_uc001ghm.3_Silent_p.P374P	NM_002021	NP_002012	Q01740	FMO1_HUMAN	Homo sapiens flavin containing monooxygenase 1 (FMO1), mRNA.	374					NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	NADP binding|flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TCATCAAACCCTTGGGCTCCA	0.478000														45			26		0	0	1	0	0
BOD1L1	259282	broad.mit.edu	37	4	13602437	13602437	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:13602437T>G	uc003gmz.1	-	9	6204	c.6087A>C	c.(6085-6087)aaA>aaC	p.K2029N	BOD1L1_uc010idr.1_Missense_Mutation_p.K1366N	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN	Homo sapiens biorientation of chromosomes in cell division 1-like (BOD1L), mRNA.	2029							DNA binding										CCTCATCTTCTTTTTCACTTG	0.448000														22			5		0	0	1	0	0
MLL5	55904	broad.mit.edu	37	7	104742434	104742434	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:104742434G>A	uc003vcm.3	+	16	2523	c.1989G>A	c.(1987-1989)caG>caA	p.Q663Q	MLL5_uc010ljc.3_Silent_p.Q663Q|MLL5_uc010lje.1_Non-coding_Transcript	NM_182931	NP_891847	Q8IZD2	MLL5_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila) (MLL5), transcript variant 1, mRNA.	663					DNA methylation|cell cycle arrest|cellular response to retinoic acid|erythrocyte differentiation|neutrophil activation|neutrophil mediated immunity|positive regulation of granulocyte differentiation|positive regulation of transcription, DNA-dependent|retinoic acid receptor signaling pathway|transcription, DNA-dependent	MLL5-L complex|nuclear speck	enzyme binding|histone methyltransferase activity (H3-K4 specific)|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(13)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	63						ACATTGGACAGCAGCGTCGGA	0.398000														52			61		0	0	1	0	0
ARID4B	51742	broad.mit.edu	37	1	235383757	235383757	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:235383757C>T	uc021pks.1	-	14	1644	c.1267G>A	c.(1267-1269)Gta>Ata	p.V423I	ARID4B_uc001hwq.3_Missense_Mutation_p.V423I|ARID4B_uc001hwr.3_Missense_Mutation_p.V423I|ARID4B_uc001hws.4_Missense_Mutation_p.V423I|ARID4B_uc001hwt.4_Missense_Mutation_p.V104I	NM_001206794	NP_001193723	Q4LE39	ARI4B_HUMAN	Homo sapiens AT rich interactive domain 4B (RBP1-like) (ARID4B), transcript variant 3, mRNA.	423	Glu-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			ATTTCTTTTACATTTTCACAC	0.343000														55			6		0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238290034	238290034	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:238290034C>A	uc002vwl.2	-	4	1706	c.1421G>T	c.(1420-1422)aGg>aTg	p.R474M	COL6A3_uc002vwo.2_Missense_Mutation_p.R268M|COL6A3_uc010znj.1_Missense_Mutation_p.R67M|COL6A3_uc002vwq.3_Missense_Mutation_p.R268M|COL6A3_uc002vwr.3_Missense_Mutation_p.R67M|COL6A3_uc010znk.1_Missense_Mutation_p.R474M	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	474	Nonhelical region.|VWFA 3.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GATTTCCAGCCTCTGGATGAC	0.483000														59			5		0.0215528	0.0220531	1	1	0
LSM3	27258	broad.mit.edu	37	3	14239546	14239546	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:14239546G>A	uc003byn.3	+	3	372	c.239G>A	c.(238-240)cGg>cAg	p.R80Q	AX747368_uc003byo.1_5'Flank	NM_014463	NP_055278	P62310	LSM3_HUMAN	Homo sapiens LSM3 homolog, U6 small nuclear RNA associated (S. cerevisiae) (LSM3), mRNA.	80					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	catalytic step 2 spliceosome|cytosol	RNA binding|protein binding	p.R80R(1)		central_nervous_system(1)|large_intestine(2)|ovary(1)	4						TCAACGAAACGGAATATTCCA	0.393000														34			18		0	0	1	0	0
VPS13C	54832	broad.mit.edu	37	15	62238573	62238573	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:62238573G>A	uc002agz.3	-	43	5004	c.4913C>T	c.(4912-4914)aCt>aTt	p.T1638I	VPS13C_uc002aha.3_Missense_Mutation_p.T1595I|VPS13C_uc002ahb.2_Missense_Mutation_p.T1638I|VPS13C_uc002ahc.2_Missense_Mutation_p.T1595I	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog C (S. cerevisiae) (VPS13C), transcript variant 2A, mRNA.	1638					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						AAACACATCAGTCTGCTTAGG	0.318000														22			18		0	0	1	0	0
ITGA5	3678	broad.mit.edu	37	12	54795851	54795851	+	Nonsense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:54795851G>T	uc001sga.3	-	20	2228	c.2160C>A	c.(2158-2160)taC>taA	p.Y720*		NM_002205	NP_002196	P08648	ITA5_HUMAN	Homo sapiens integrin, alpha 5 (fibronectin receptor, alpha polypeptide) (ITGA5), mRNA.	720					angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						TCACGGCAAAGTAGTCACAGC	0.572000														61			6		3.59834e-05	3.95114e-05	1	1	0
LRP1	4035	broad.mit.edu	37	12	57600483	57600483	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57600483C>T	uc001snd.3	+	75	12284	c.11818C>T	c.(11818-11820)Cgc>Tgc	p.R3940C		NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	3940					aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CACTTCCAACCGCCACCGGCG	0.617000														26			17		0	0	1	0	0
KIAA0284	283638	broad.mit.edu	37	14	105352885	105352885	+	Missense_Mutation	SNP	G	A	A	rs60001925		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:105352885G>A	uc001yps.3	+	10	2405	c.2099G>A	c.(2098-2100)cGc>cAc	p.R700H	KIAA0284_uc010axb.3_Missense_Mutation_p.R700H|KIAA0284_uc001ypt.3_5'Flank	NM_015005	NP_055820	Q9Y4F5	K0284_HUMAN	Homo sapiens KIAA0284 (KIAA0284), transcript variant 2, mRNA.	770						cytoplasm|microtubule				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(5)|prostate(3)|soft_tissue(1)	14		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000472)|OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0149)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.178)		GACAGCAGACGCAGGAGCCCC	0.692000														4			4		0	0	1	0	0
IGDCC3	9543	broad.mit.edu	37	15	65625621	65625621	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:65625621G>A	uc002aos.2	-	5	1208	c.956C>T	c.(955-957)aCg>aTg	p.T319M		NM_004884	NP_004875	Q8IVU1	IGDC3_HUMAN	Homo sapiens immunoglobulin superfamily, DCC subclass, member 3 (IGDCC3), mRNA.	319	Ig-like C2-type 3.									breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GCCCTGTGCCGTTCTCCTCAC	0.637000														32			5		0	0	1	0	0
USP39	10713	broad.mit.edu	37	2	85868167	85868167	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:85868167C>A	uc002sqe.3	+	9	1389	c.1353C>A	c.(1351-1353)atC>atA	p.I451I	USP39_uc002sqb.3_Silent_p.I182I|USP39_uc010ysu.2_Silent_p.I373I|USP39_uc010ysv.2_Silent_p.I348I|USP39_uc010fgn.1_Silent_p.I451I|USP39_uc002sqg.3_Silent_p.I451I|USP39_uc010fgo.3_Silent_p.I451I	NM_006590	NP_006581	Q53GS9	SNUT2_HUMAN	Homo sapiens ubiquitin specific peptidase 39 (USP39), mRNA.	451					spliceosome assembly|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	19						CATATCTAATCTTTTGTATCA	0.353000														37			25		3.1745e-13	3.94683e-13	1	1	0
PHF14	9678	broad.mit.edu	37	7	11091395	11091395	+	Silent	SNP	G	A	A	rs150763937	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:11091395G>A	uc003sry.2	+	13	2921	c.2469G>A	c.(2467-2469)ccG>ccA	p.P823P	PHF14_uc011jxi.2_Silent_p.P538P|PHF14_uc011jxj.2_Silent_p.P538P	NM_014660	NP_055475	O94880	PHF14_HUMAN	Homo sapiens PHD finger protein 14 (PHF14), transcript variant 2, mRNA.	823							zinc ion binding			NS(2)|breast(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	35				UCEC - Uterine corpus endometrioid carcinoma (126;0.205)		AGAAGATTCCGATAAGAAACA	0.393000														30			16		0	0	1	0	0
UNC93A	54346	broad.mit.edu	37	6	167708048	167708048	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:167708048G>T	uc003qvq.3	+	1	306	c.131G>T	c.(130-132)aGc>aTc	p.S44I	UNC93A_uc003qvr.3_Missense_Mutation_p.S44I	NM_018974	NP_061847	Q86WB7	UN93A_HUMAN	Homo sapiens unc-93 homolog A (C. elegans) (UNC93A), transcript variant 1, mRNA.	44						integral to membrane|plasma membrane				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		ACAGCGCTCAGCACCCTCTAT	0.617000														56			51		4.10826e-27	5.39411e-27	1	1	0
CREBBP	1387	broad.mit.edu	37	16	3929833	3929833	+	Splice_Site	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:3929833C>A	uc002cvv.3	-	1	289	c.85_splice	c.e1+1	p.D29_splice	CREBBP_uc002cvw.3_Splice_Site_p.D29_splice	NM_004380	NP_004371	Q92793	CBP_HUMAN	Homo sapiens CREB binding protein (CREBBP), transcript variant 1, mRNA.	29		Breakpoint for translocation to form MYST4-CREBBP.			N-terminal peptidyl-lysine acetylation|cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	MyoD binding|histone acetyltransferase activity|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)		CCCTCCTCACCTGTGCTGTCA	0.672000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome							7			7		8.12818e-05	8.84769e-05	1	1	0
HCFC1	3054	broad.mit.edu	37	X	153227081	153227081	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153227081G>A	uc004fjp.3	-	5	1344	c.816C>T	c.(814-816)ggC>ggT	p.G272G		NM_005334	NP_005325	P51610	HCFC1_HUMAN	Homo sapiens host cell factor C1 (VP16-accessory protein) (HCFC1), mRNA.	272					cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex|MLL5-L complex|Set1C/COMPASS complex|mitochondrion	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GAGGCACCCAGCCACCAAACA	0.547000														13			9		0	0	1	0	0
SLC30A1	7779	broad.mit.edu	37	1	211749578	211749578	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:211749578G>T	uc001hio.1	-	1	821	c.676C>A	c.(676-678)Ctt>Att	p.L226I		NM_021194	NP_067017	Q9Y6M5	ZNT1_HUMAN	Homo sapiens solute carrier family 30 (zinc transporter), member 1 (SLC30A1), mRNA.	226					cadmium ion transmembrane transport|cellular calcium ion homeostasis|cellular zinc ion homeostasis|negative regulation of calcium ion import|negative regulation of neurotransmitter secretion|negative regulation of zinc ion import	T-tubule|integral to membrane	calcium channel inhibitor activity|zinc ion transmembrane transporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(3)|prostate(1)	11				OV - Ovarian serous cystadenocarcinoma(81;0.00535)|GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.0604)|Epithelial(68;0.0978)		TCTCTGACAAGATTTCCATTC	0.388000														44			27		3.73808e-20	4.82081e-20	1	1	0
NSD1	64324	broad.mit.edu	37	5	176638615	176638615	+	Missense_Mutation	SNP	G	A	A	rs28932180		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:176638615G>A	uc003mfr.4	+	4	3353	c.3215G>A	c.(3214-3216)cGa>cAa	p.R1072Q	NSD1_uc003mft.4_Missense_Mutation_p.R803Q|NSD1_uc003mfs.1_Missense_Mutation_p.R969Q|NSD1_uc011dfx.2_Missense_Mutation_p.R720Q	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	Homo sapiens nuclear receptor binding SET domain protein 1 (NSD1), transcript variant 2, mRNA.	1072					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		CAGGGAGACCGAGAACGTGGA	0.463000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)				67			48		0	0	1	0	0
POLG	5428	broad.mit.edu	37	15	89871701	89871701	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:89871701C>T	uc002bns.4	-	5	1518	c.1236G>A	c.(1234-1236)ccG>ccA	p.P412P	POLG_uc002bnr.4_Silent_p.P412P	NM_002693	NP_002684	P54098	DPOG1_HUMAN	Homo sapiens polymerase (DNA directed), gamma (POLG), transcript variant 1, mRNA.	412					DNA-dependent DNA replication|base-excision repair, gap-filling|cell death	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			CCAAGAAGAGCGGTAGCTGCT	0.602000								DNA polymerases (catalytic subunits)						17			9		0	0	1	0	0
LOC100507433	100507433	broad.mit.edu	37	19	38103579	38103579	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:38103579C>A	uc002ogq.3	+	4	1765	c.1398C>A	c.(1396-1398)ccC>ccA	p.P466P	LOC100507433_uc002ogu.3_Silent_p.P466P|LOC100507433_uc010efq.3_Silent_p.P434P	NM_152606	NP_689819			Homo sapiens zinc finger protein 540 (ZNF540), transcript variant 2, mRNA.																		GTGTGAAGCCCTACGAATGTA	0.403000														63			6		0.217242	0.21859	1	1	0
ROMO1	140823	broad.mit.edu	37	20	34288814	34288814	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:34288814G>T	uc002xdy.3	+	2	373	c.226G>T	c.(226-228)Ggc>Tgc	p.G76C	NFS1_uc002xdt.2_5'Flank|NFS1_uc010zvl.2_5'Flank|NFS1_uc010zvk.2_5'Flank|NFS1_uc002xdw.2_5'Flank|NFS1_uc002xdx.3_5'Flank|ROMO1_uc010gfm.3_Missense_Mutation_p.G76C	NM_080748	NP_542786	P60602	ROMO1_HUMAN	Homo sapiens reactive oxygen species modulator 1 (ROMO1), nuclear gene encoding mitochondrial protein, mRNA.	76					cellular response to reactive oxygen species|positive regulation of cell proliferation|positive regulation of reactive oxygen species metabolic process|replicative cell aging	integral to membrane|mitochondrial membrane				cervix(1)	1						CATTGGGATGGGCATCCGATG	0.522000														41			16		1.5739e-10	1.90488e-10	1	1	0
AQP5	362	broad.mit.edu	37	12	50355889	50355889	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:50355889G>A	uc001rvo.2	+	0	611	c.89G>A	c.(88-90)gGc>gAc	p.G30D		NM_001651	NP_001642	P55064	AQP5_HUMAN	Homo sapiens aquaporin 5 (AQP5), mRNA.	30					carbon dioxide transport|excretion|odontogenesis|pancreatic juice secretion	apical plasma membrane|integral to plasma membrane	protein binding|water channel activity			large_intestine(1)|lung(3)	4						TTTGGCCTGGGCTCGGCCCTC	0.662000														15			10		0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	186147631	186147631	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:186147631C>A	uc001grq.1	+	103	16256	c.16027C>A	c.(16027-16029)Cca>Aca	p.P5343T	MIR548F1_uc021pgf.1_Intron|HMCN1_uc001grs.1_Intron	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	5343	EGF-like 6; calcium-binding (Potential).				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TATCTGTCCACCAGGACAACA	0.478000														189			24		9.57634e-11	1.16131e-10	1	1	0
MOGS	7841	broad.mit.edu	37	2	74689080	74689080	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:74689080C>T	uc010ffj.3	-	3	1999	c.1836G>A	c.(1834-1836)acG>acA	p.T612T	MOGS_uc010ffh.3_Silent_p.T337T|MOGS_uc010yrt.2_Silent_p.T493T|MOGS_uc010ffi.3_Silent_p.T506T	NM_006302	NP_001139630	Q13724	MOGS_HUMAN	Homo sapiens mannosyl-oligosaccharide glucosidase (MOGS), transcript variant 1, mRNA.	612					oligosaccharide metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding	endoplasmic reticulum membrane|integral to membrane|membrane fraction	mannosyl-oligosaccharide glucosidase activity			cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2)	23						CTGCCAGCCGCGTCAGCACAC	0.657000														40			23		0	0	1	0	0
TBC1D22A	25771	broad.mit.edu	37	22	47189693	47189693	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:47189693C>T	uc003bib.3	+	2	581	c.415C>T	c.(415-417)Cgg>Tgg	p.R139W	TBC1D22A_uc010haf.3_Missense_Mutation_p.R109W|TBC1D22A_uc003bie.3_Missense_Mutation_p.R120W|TBC1D22A_uc010hag.3_Non-coding_Transcript|TBC1D22A_uc003bif.3_Missense_Mutation_p.R92W	NM_014346	NP_055161	Q8WUA7	TB22A_HUMAN	Homo sapiens TBC1 domain family, member 22A (TBC1D22A), mRNA.	139						intracellular	Rab GTPase activator activity|protein homodimerization activity			breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)		CGGCGACCTCCGGCTGGTGAA	0.667000														2			3		0	0	1	0	0
IL34	146433	broad.mit.edu	37	16	70690941	70690941	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:70690941G>A	uc002ezh.2	+	4	874	c.319G>A	c.(319-321)Gac>Aac	p.D107N	IL34_uc002ezi.2_Missense_Mutation_p.D106N|IL34_uc021tkk.1_Missense_Mutation_p.D107N	NM_152456	NP_689669	Q6ZMJ4	IL34_HUMAN	Homo sapiens interleukin 34 (IL34), transcript variant 1, mRNA.	107					positive regulation of cell proliferation|positive regulation of protein phosphorylation	extracellular space	cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding			breast(1)|central_nervous_system(1)|kidney(9)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(2)	17						GTCGGTGCAGGACGTGCTGCT	0.627000														90			51		0	0	1	0	0
TMC7	79905	broad.mit.edu	37	16	19056286	19056286	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:19056286C>T	uc002dfp.2	+	9	1548	c.1418C>T	c.(1417-1419)aCa>aTa	p.T473I	TMC7_uc010vao.1_3'UTR|TMC7_uc002dfq.3_Missense_Mutation_p.T473I|TMC7_uc010vap.2_Missense_Mutation_p.T363I	NM_024847	NP_079123	Q7Z402	TMC7_HUMAN	Homo sapiens transmembrane channel-like 7 (TMC7), transcript variant 1, mRNA.	473						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						GATGATGACACATGTGACCTT	0.562000														66			55		0	0	1	0	0
LIPA	3988	broad.mit.edu	37	10	90984986	90984986	+	Splice_Site	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:90984986C>A	uc001kgc.4	-	5	835	c.545_splice	c.e5-1	p.G182_splice	LIPA_uc001kgb.4_Splice_Site_p.G124_splice|LIPA_uc010qnf.2_5'UTR|LIPA_uc001kga.4_Splice_Site_p.G180_splice|LIPA_uc009xtq.3_Splice_Site_p.G180_splice|LIPA_uc009xtr.1_5'Flank	NM_001127605	NP_001121077	P38571	LICH_HUMAN	Homo sapiens lipase A, lysosomal acid, cholesterol esterase (LIPA), transcript variant 1, mRNA.	180					lipid catabolic process	lysosome	lipase activity|sterol esterase activity			endometrium(1)|large_intestine(2)|lung(3)	6		Colorectal(252;0.0162)		GBM - Glioblastoma multiforme(2;0.00406)		GCTATAAAACCTGTGAGAACA	0.488000														194			11		3.86212e-05	4.23294e-05	1	1	0
ZNF319	57567	broad.mit.edu	37	16	58031995	58031995	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:58031995C>T	uc002emx.1	-	1	798	c.175G>A	c.(175-177)Ggc>Agc	p.G59S	ZNF319_uc021tjd.1_Missense_Mutation_p.G59S	NM_020807	NP_065858	Q9P2F9	ZN319_HUMAN	Homo sapiens zinc finger protein 319 (ZNF319), mRNA.	59	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1)	8						GGCTGCAGGCCGGGGTCTGGC	0.697000														23			15		0	0	1	0	0
TSPAN32	10077	broad.mit.edu	37	11	2324157	2324157	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:2324157G>T	uc001lvy.1	+	1	287	c.150G>T	c.(148-150)gaG>gaT	p.E50D	C11orf21_uc009ydj.2_5'Flank|C11orf21_uc001lvv.2_5'Flank|TSPAN32_uc001lvx.1_Missense_Mutation_p.E85D|TSPAN32_uc009ydk.1_Missense_Mutation_p.E85D|TSPAN32_uc010qxk.2_Missense_Mutation_p.E85D|TSPAN32_uc009ydl.1_Non-coding_Transcript|TSPAN32_uc001lvz.1_Missense_Mutation_p.E20D|TSPAN32_uc001lwb.1_Missense_Mutation_p.E20D|TSPAN32_uc001lwc.1_Missense_Mutation_p.E20D	NM_139022	NP_620591	Q96QS1	TSN32_HUMAN	Homo sapiens tetraspanin 32 (TSPAN32), mRNA.	50					cell-cell signaling	integral to membrane				breast(1)|central_nervous_system(1)|lung(4)|ovary(1)|skin(1)	8		all_epithelial(84;4.89e-05)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.00791)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.000533)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)		CGTCCCTGGAGAAGAACCCGT	0.642000														41			8		0.00621372	0.00645399	1	1	0
DUS2L	54920	broad.mit.edu	37	16	68071995	68071995	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:68071995G>A	uc002evi.3	+	2	218	c.69G>A	c.(67-69)ggG>ggA	p.G23G	DUS2L_uc002evj.3_Silent_p.G23G|DUS2L_uc010vkk.2_Silent_p.G23G	NM_017803	NP_060273	Q9NX74	DUS2L_HUMAN	Homo sapiens dihydrouridine synthase 2-like, SMM1 homolog (S. cerevisiae) (DUS2L), mRNA.	23					tRNA processing	endoplasmic reticulum	double-stranded RNA binding|flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|stomach(1)	24		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0131)|Epithelial(162;0.0564)		TTCGGGTAGGGACTCTTCCAA	0.468000														56			31		0	0	1	0	0
PTPRA	5786	broad.mit.edu	37	20	2998533	2998533	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:2998533G>A	uc010zqd.2	+	11	1365	c.1048G>A	c.(1048-1050)Gtt>Att	p.V350I	PTPRA_uc002whj.3_Missense_Mutation_p.V339I|PTPRA_uc002whk.3_Missense_Mutation_p.V330I|PTPRA_uc002whl.3_Missense_Mutation_p.V330I|PTPRA_uc002whm.3_Missense_Mutation_p.V106I|PTPRA_uc002whn.3_Missense_Mutation_p.V330I|PTPRA_uc002who.3_Missense_Mutation_p.V2I	NM_002836	NP_002827	P18433	PTPRA_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, A (PTPRA), transcript variant 1, mRNA.	339	Tyrosine-protein phosphatase 1.				axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						CATCGTCATGGTTACCAACCT	0.443000														49			5		0	0	1	0	0
SEC14L5	9717	broad.mit.edu	37	16	5046882	5046882	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:5046882G>A	uc002cye.2	+	7	987	c.807G>A	c.(805-807)cgG>cgA	p.R269R		NM_014692	NP_055507	O43304	S14L5_HUMAN	Homo sapiens SEC14-like 5 (S. cerevisiae) (SEC14L5), mRNA.	269						integral to membrane|intracellular	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						ACATCCTTCGGTTCCTGCGGG	0.542000														18			14		0	0	1	0	0
KIAA1024	23251	broad.mit.edu	37	15	79748643	79748643	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:79748643T>C	uc002bew.1	+	1	229	c.154T>C	c.(154-156)Tac>Cac	p.Y52H	KIAA1024_uc010unk.1_Missense_Mutation_p.Y52H	NM_015206	NP_056021	Q9UPX6	K1024_HUMAN	Homo sapiens KIAA1024 (KIAA1024), mRNA.	52						integral to membrane				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						TGTGCTCTTCTACACAGCTTG	0.468000														46			23		0	0	1	0	0
MTBP	27085	broad.mit.edu	37	8	121467747	121467747	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:121467747C>T	uc003ypc.1	+	5	602	c.557C>T	c.(556-558)aCt>aTt	p.T186I	MTBP_uc011lie.1_Non-coding_Transcript	NM_022045	NP_071328	Q96DY7	MTBP_HUMAN	Homo sapiens Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa (MTBP), mRNA.	186					cell cycle arrest					NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			TATTTACCTACTGTAGGAGCA	0.318000														68			40		0	0	1	0	0
GALNT9	50614	broad.mit.edu	37	12	132681707	132681707	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:132681707C>A	uc001ukc.4	-	10	1873	c.1757G>T	c.(1756-1758)aGg>aTg	p.R586M	GALNT9_uc009zyr.3_Missense_Mutation_p.R360M|GALNT9_uc001ukb.3_Missense_Mutation_p.R443M|GALNT9_uc001uka.3_Missense_Mutation_p.R220M	NM_001122636	NP_001116108	Q9HCQ5	GALT9_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 9 (GalNAc-T9) (GALNT9), transcript variant A, mRNA.	586	Ricin B-type lectin.				protein O-linked glycosylation	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(1)|endometrium(1)|large_intestine(2)|lung(5)	9	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.49e-08)|Epithelial(86;3.55e-07)|all cancers(50;2.09e-05)		CCCCGAGCACCTCTGTACCAC	0.647000														40			7		1.6384e-10	1.98099e-10	1	1	0
LMTK2	22853	broad.mit.edu	37	7	97822147	97822147	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:97822147G>T	uc003upd.2	+	10	2663	c.2370G>T	c.(2368-2370)aaG>aaT	p.K790N		NM_014916	NP_055731	Q8IWU2	LMTK2_HUMAN	Homo sapiens lemur tyrosine kinase 2 (LMTK2), mRNA.	790					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	Golgi apparatus|early endosome|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					TAAGCACAAAGGGTGACGATA	0.453000														157			12		2.32078e-09	2.76369e-09	1	1	0
FAM65A	79567	broad.mit.edu	37	16	67579727	67579727	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:67579727C>T	uc010vjp.2	+	18	3597	c.3411C>T	c.(3409-3411)ctC>ctT	p.L1137L	FAM65A_uc002eth.3_Silent_p.L1117L|FAM65A_uc010cej.3_Silent_p.L1121L|FAM65A_uc010vjq.2_Silent_p.L1131L|FAM65A_uc002etk.3_Silent_p.L1115L	NM_001193523	NP_078795	Q6ZS17	FA65A_HUMAN	Homo sapiens family with sequence similarity 65, member A (FAM65A), transcript variant 3, mRNA.	1121						cytoplasm	binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		GCACCCAGCTCCGGAGCCTGT	0.672000														16			22		0	0	1	0	0
C3orf35	339883	broad.mit.edu	37	3	37458932	37458932	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:37458932C>T	uc003cha.4	+	4	839	c.175C>T	c.(175-177)Cag>Tag	p.Q59*	C3orf35_uc003chb.3_Nonsense_Mutation_p.Q59*|C3orf35_uc021wvg.1_Nonsense_Mutation_p.Q59*	NM_178339	NP_848029	Q8IVJ8	APRG1_HUMAN	Homo sapiens chromosome 3 open reading frame 35 (C3orf35), transcript variant B, mRNA.	59						integral to membrane				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	11						GATGGGCCTGCAGGGCAGTGC	0.453000														44			30		0	0	1	0	0
FAM160B1	57700	broad.mit.edu	37	10	116590682	116590682	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:116590682G>A	uc001lcb.3	+	1	452	c.117G>A	c.(115-117)gaG>gaA	p.E39E	FAM160B1_uc001lcc.3_Silent_p.E39E	NM_020940	NP_065991	Q5W0V3	F16B1_HUMAN	Homo sapiens family with sequence similarity 160, member B1 (FAM160B1), transcript variant 1, mRNA.	39				E -> G (in Ref. 1; CAI45992).				p.E39D(3)		NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)	25						ACTACATAGAGACTTCAGGTA	0.308000														57			23		0	0	1	0	0
SMAD9	4093	broad.mit.edu	37	13	37439705	37439705	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:37439705C>T	uc001uvw.3	-	4	1315	c.972G>A	c.(970-972)acG>acA	p.T324T	SMAD9_uc001uvx.3_Silent_p.T287T|SMAD9_uc010tep.2_Silent_p.T117T	NM_001127217	NP_001120689	O15198	SMAD9_HUMAN	Homo sapiens SMAD family member 9 (SMAD9), transcript variant a, mRNA.	324	MH2.				BMP signaling pathway|transforming growth factor beta receptor signaling pathway	cytosol|transcription factor complex	sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)	18		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026)		TATTTTCTATCGTTGAGTTTC	0.408000														56			20		0	0	1	0	0
DGKQ	1609	broad.mit.edu	37	4	955517	955517	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:955517C>A	uc003gbw.3	-	19	2495	c.2421G>T	c.(2419-2421)gaG>gaT	p.E807D	DGKQ_uc010ibn.3_Missense_Mutation_p.E794D	NM_001347	NP_001338	P52824	DGKQ_HUMAN	Homo sapiens diacylglycerol kinase, theta 110kDa (DGKQ), mRNA.	807					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|platelet activation|protein kinase C signaling cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to ATP|thrombin receptor signaling pathway	cytoskeleton|cytosol|nuclear speck|plasma membrane	ATP binding|activating transcription factor binding|diacylglycerol kinase activity|kinase binding|metal ion binding|phospholipase binding			breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2)	9			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			TACTGGGCAGCTCCACCTCCT	0.652000														35			5		0.217242	0.21859	1	1	0
POLR1A	25885	broad.mit.edu	37	2	86276317	86276317	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:86276317C>T	uc002sqs.3	-	16	2820	c.2441G>A	c.(2440-2442)cGt>cAt	p.R814H	POLR1A_uc010ytb.2_Missense_Mutation_p.R180H	NM_015425	NP_056240	O95602	RPA1_HUMAN	Homo sapiens polymerase (RNA) I polypeptide A, 194kDa (POLR1A), mRNA.	814					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						TTCAATGATACGTTGCCTCTT	0.547000														81			43		0	0	1	0	0
TAS2R10	50839	broad.mit.edu	37	12	10978450	10978450	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:10978450G>A	uc001qyy.1	-	0	419	c.419C>T	c.(418-420)tCg>tTg	p.S140L		NM_023921	NP_076410	Q9NYW0	T2R10_HUMAN	Homo sapiens taste receptor, type 2, member 10 (TAS2R10), mRNA.	140					sensory perception of taste	integral to membrane	taste receptor activity			breast(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						ATTAAGTAACGATGAAATAAG	0.308000														30			17		0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8340357	8340357	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:8340357G>A	uc003zkk.3	-	41	5982	c.5239C>T	c.(5239-5241)Cgt>Tgt	p.R1747C	PTPRD_uc003zkp.3_Missense_Mutation_p.R1341C|PTPRD_uc003zkq.3_Missense_Mutation_p.R1340C|PTPRD_uc003zkr.3_Missense_Mutation_p.R1331C|PTPRD_uc003zks.3_Missense_Mutation_p.R1340C|PTPRD_uc022bdj.1_Missense_Mutation_p.R1337C	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	1747	Tyrosine-protein phosphatase 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CCCATTTCACGCAGCTTGGTG	0.488000										TSP Lung(15;0.13)				35			24		0	0	1	0	0
CHML	1122	broad.mit.edu	37	1	241798768	241798768	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:241798768C>T	uc001hzd.3	-	0	465	c.301G>A	c.(301-303)Gct>Act	p.A101T	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.	101					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)			TAGCAAAAAGCTTCTGTGTGT	0.443000														286			44		0	0	1	0	0
ZNF18	7566	broad.mit.edu	37	17	11881326	11881326	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:11881326G>A	uc002gng.1	-	8	2203	c.1598C>T	c.(1597-1599)tCg>tTg	p.S533L	ZNF18_uc002gnh.1_Missense_Mutation_p.S533L|ZNF18_uc002gni.1_Missense_Mutation_p.S532L	NM_144680	NP_653281	P17022	ZNF18_HUMAN	Homo sapiens zinc finger protein 18 (ZNF18), mRNA.	533					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	14				Colorectal(4;3.33e-05)|COAD - Colon adenocarcinoma(4;0.000494)|READ - Rectum adenocarcinoma(10;0.233)		GTCAAGGCTCGAGCTCCAGCT	0.433000														116			7		0	0	1	0	0
HOXD8	3234	broad.mit.edu	37	2	176996304	176996304	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:176996304G>T	uc002uko.3	+	1	1464	c.837G>T	c.(835-837)gaG>gaT	p.E279D	AX747372_uc002ukm.1_5'Flank|HOXD8_uc002ukn.3_Missense_Mutation_p.E95D|HOXD8_uc002ukp.3_Missense_Mutation_p.E278D	NM_019558	NP_062458	P13378	HXD8_HUMAN	Homo sapiens homeobox D8 (HOXD8), transcript variant 1, mRNA.	279					anterior/posterior axis specification, embryo	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(2)|lung(5)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)		AAGCCCAAGAGCTGGAGGAAG	0.428000														20			12		1.08611e-07	1.25606e-07	1	1	0
SYNJ1	8867	broad.mit.edu	37	21	34045776	34045776	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:34045776G>A	uc002yqh.2	-	13	1717	c.1717C>T	c.(1717-1719)Cga>Tga	p.R573*	SYNJ1_uc011ads.1_Nonsense_Mutation_p.R529*|SYNJ1_uc002yqf.2_Nonsense_Mutation_p.R534*|SYNJ1_uc002yqg.2_Nonsense_Mutation_p.R529*|SYNJ1_uc002yqi.2_Nonsense_Mutation_p.R573*	NM_003895	NP_003886	O43426	SYNJ1_HUMAN	Homo sapiens synaptojanin 1 (SYNJ1), transcript variant 1, mRNA.	534	Catalytic (Potential).						RNA binding|inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity	p.R534*(2)		breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						ACACATACTCGAATTTTCTTA	0.388000														57			6		0	0	1	0	0
CENPF	1063	broad.mit.edu	37	1	214794038	214794038	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:214794038G>A	uc001hkm.3	+	5	788	c.614G>A	c.(613-615)cGc>cAc	p.R205H		NM_016343	NP_057427	P49454	CENPF_HUMAN	Homo sapiens centromere protein F, 350/400kDa (mitosin) (CENPF), mRNA.	205	Interaction with SNAP25 and required for localization to the cytoplasm (By similarity).				DNA replication|G2 phase of mitotic cell cycle|cell differentiation|cell division|cell proliferation|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		ATGAATCACCGCGACATTGCC	0.428000														136			29		0	0	1	0	0
FAM120A	23196	broad.mit.edu	37	9	96305688	96305688	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:96305688C>T	uc004atw.3	+	10	2119	c.2094C>T	c.(2092-2094)gaC>gaT	p.D698D	FAM120A_uc004aty.3_Silent_p.D479D|FAM120A_uc004atz.3_Silent_p.D347D|FAM120A_uc010mrg.3_Silent_p.D11D	NM_014612	NP_055427	Q9NZB2	F120A_HUMAN	Homo sapiens family with sequence similarity 120A (FAM120A), mRNA.	698						cytoplasm|plasma membrane	RNA binding			endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TGAGGTCGGACACCCCAGCCA	0.632000														42			20		0	0	1	0	0
PTPRA	5786	broad.mit.edu	37	20	2945784	2945784	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:2945784A>C	uc010zqd.2	+	3	701	c.384A>C	c.(382-384)agA>agC	p.R128S	PTPRA_uc002whj.3_Missense_Mutation_p.R117S|PTPRA_uc010zqb.1_Missense_Mutation_p.R117S|PTPRA_uc010zqc.1_Intron|PTPRA_uc002whk.3_Missense_Mutation_p.R117S|PTPRA_uc002whl.3_Missense_Mutation_p.R117S|PTPRA_uc002whm.3_5'UTR|PTPRA_uc002whn.3_Missense_Mutation_p.R117S	NM_002836	NP_002827	P18433	PTPRA_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, A (PTPRA), transcript variant 1, mRNA.	117					axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						CGGATGCCAGAACAGAACCCT	0.468000														54			33		0	0	1	0	0
TAF1	6872	broad.mit.edu	37	X	70627487	70627487	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:70627487G>A	uc004dzu.4	+	26	4219	c.4168G>A	c.(4168-4170)Gag>Aag	p.E1390K	BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.4_Missense_Mutation_p.E1411K|TAF1_uc004dzv.4_Missense_Mutation_p.E564K|TAF1_uc010nld.1_Non-coding_Transcript|TAF1_uc010nle.1_Non-coding_Transcript|TAF1_uc010nlf.1_5'UTR|TAF1_uc004dzx.2_Non-coding_Transcript|TAF1_uc004dzy.2_Non-coding_Transcript	NM_138923	NP_620278	P21675	TAF1_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa (TAF1), transcript variant 2, mRNA.	1390	Interaction with ASF1A and ASF1B.				G1 phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|TBP-class protein binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|transcription coactivator activity			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				GTCCATCTTGGAGTCTATCAT	0.453000														41			17		0	0	1	0	0
TSC2	7249	broad.mit.edu	37	16	2105475	2105475	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:2105475A>G	uc002con.3	+	5	660	c.554A>G	c.(553-555)aAa>aGa	p.K185R	TCRBV20S1_uc021tak.1_Intron|TSC2_uc010bsd.3_Missense_Mutation_p.K185R|TSC2_uc002coo.3_Missense_Mutation_p.K185R|TSC2_uc010uvv.2_Missense_Mutation_p.K148R|TSC2_uc010uvw.2_Missense_Mutation_p.K136R|TSC2_uc002cop.3_Intron	NM_000548	NP_000539	P49815	TSC2_HUMAN	Homo sapiens tuberous sclerosis 2 (TSC2), transcript variant 1, mRNA.	185	Required for interaction with TSC1.				cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|TSC1-TSC2 complex|nucleus|perinuclear region of cytoplasm	GTPase activator activity|protein homodimerization activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				AACTTGGTCAAATTCAATAGC	0.493000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis					97			44		0	0	1	0	0
USP32	84669	broad.mit.edu	37	17	58260799	58260799	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:58260799G>A	uc002iyo.1	-	30	4136	c.3850C>T	c.(3850-3852)Cga>Tga	p.R1284*	USP32_uc002iyn.1_Nonsense_Mutation_p.R954*	NM_032582	NP_115971	Q8NFA0	UBP32_HUMAN	Homo sapiens ubiquitin specific peptidase 32 (USP32), mRNA.	1284					protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			AATTGAAATCGCTTAAGGTGA	0.343000														42			37		0	0	1	0	0
USP19	10869	broad.mit.edu	37	3	49155466	49155466	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49155466A>G	uc003cwd.2	-	2	531	c.212T>C	c.(211-213)aTc>aCc	p.I71T	USP19_uc003cwa.3_5'UTR|USP19_uc003cwb.3_Missense_Mutation_p.I71T|USP19_uc003cvz.4_Missense_Mutation_p.I71T|USP19_uc011bcg.2_Missense_Mutation_p.I71T|USP19_uc003cwc.2_5'Flank|USP19_uc011bch.2_Missense_Mutation_p.I71T|USP19_uc011bci.2_Missense_Mutation_p.I71T	NM_006677	NP_006668	O94966	UBP19_HUMAN	Homo sapiens ubiquitin specific peptidase 19 (USP19), transcript variant 4, mRNA.	71					ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		tgagcctgtgatcccagctgc	0.537000														25			10		0	0	1	0	0
CCNJ	54619	broad.mit.edu	37	10	97817680	97817680	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:97817680G>A	uc010qoq.2	+	5	1193	c.834G>A	c.(832-834)caG>caA	p.Q278Q	LOC728558_uc001klg.2_Intron|LOC728558_uc001klj.2_Intron|CCNJ_uc001klm.3_Silent_p.Q267Q|CCNJ_uc001kln.3_Silent_p.Q266Q	NM_001134375	NP_001127847	Q5T5M9	CCNJ_HUMAN	Homo sapiens cyclin J (CCNJ), transcript variant 1, mRNA.	267						nucleus				breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	11				Epithelial(162;6.1e-08)|all cancers(201;2.32e-06)		CAGCCTCCCAGCCATCACGGC	0.498000														47			29		0	0	1	0	0
S100A9	6280	broad.mit.edu	37	1	153330827	153330827	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:153330827C>A	uc001fbq.3	+	1	111	c.68C>A	c.(67-69)tCt>tAt	p.S23Y		NM_002965	NP_002956	P06702	S10A9_HUMAN	Homo sapiens S100 calcium binding protein A9 (S100A9), mRNA.	23	EF-hand 1.				cell-cell signaling	cytoplasm|cytoskeleton|nucleus|plasma membrane	calcium ion binding|protein binding|signal transducer activity			breast(1)|endometrium(1)|large_intestine(2)	4	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			CACCAATACTCTGTGAAGCTG	0.493000														31			18		1.67942e-08	1.97205e-08	1	1	0
BC139719	0	broad.mit.edu	37	16	90161014	90161014	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:90161014G>A	uc002fqq.3	+	2	244	c.244G>A	c.(244-246)Ggg>Agg	p.G82R	BC139719_uc002fqp.3_Intron					Homo sapiens, Similar to tubulin, beta, 2, clone IMAGE:4873024, mRNA.																		GGGGCCCTTCGGGCAGGTCTT	0.667000														64			23		0	0	1	0	0
VAV1	7409	broad.mit.edu	37	19	6829876	6829876	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:6829876C>A	uc002mfu.1	+	13	1442	c.1345C>A	c.(1345-1347)Ctg>Atg	p.L449M	VAV1_uc010xjh.1_Missense_Mutation_p.L417M|VAV1_uc010dva.1_Missense_Mutation_p.L449M|VAV1_uc002mfv.1_Missense_Mutation_p.L394M	NM_005428	NP_005419	P15498	VAV_HUMAN	Homo sapiens vav 1 guanine nucleotide exchange factor (VAV1), mRNA.	449	PH.				T cell costimulation|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						CTTTGTAAACCTGCACAGCTT	0.542000														78			11		1.08611e-07	1.25606e-07	1	1	0
TLR8	51311	broad.mit.edu	37	X	12937546	12937546	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:12937546G>A	uc004cvd.3	+	2	611	c.441G>A	c.(439-441)gaG>gaA	p.E147E	TLR8-AS1_uc022btb.1_Intron|TLR8_uc004cve.3_Silent_p.E129E	NM_138636	NP_619542	Q9NR97	TLR8_HUMAN	Homo sapiens toll-like receptor 8 (TLR8), mRNA.	129					I-kappaB kinase/NF-kappaB cascade|cellular response to mechanical stimulus|defense response to virus|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						ACCTAAGGGAGTTACTGCTTG	0.408000														96			63		0	0	1	0	0
ANAPC2	29882	broad.mit.edu	37	9	140082371	140082371	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:140082371G>T	uc004clr.1	-	1	375	c.302C>A	c.(301-303)tCt>tAt	p.S101Y	ANAPC2_uc004clq.1_5'UTR|ANAPC2_uc011mer.1_Missense_Mutation_p.S101Y|SSNA1_uc004cls.2_5'Flank	NM_013366	NP_037498	Q9UJX6	ANC2_HUMAN	Homo sapiens anaphase promoting complex subunit 2 (ANAPC2), mRNA.	101					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of cyclin-dependent protein kinase activity	anaphase-promoting complex|cytosol|nucleoplasm	ubiquitin protein ligase binding|ubiquitin-protein ligase activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)		CTCATCCGCAGAGTTCTCGCA	0.582000														46			7		0.0293803	0.0299714	1	1	0
PAPOLA	10914	broad.mit.edu	37	14	97009208	97009208	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:97009208G>A	uc001yfq.3	+	13	1484	c.1267G>A	c.(1267-1269)Gca>Aca	p.A423T	PAPOLA_uc001yfr.3_Missense_Mutation_p.A423T|PAPOLA_uc010twv.2_Missense_Mutation_p.A423T|PAPOLA_uc010avp.3_Missense_Mutation_p.A173T	NM_032632	NP_116021	P51003	PAPOA_HUMAN	Homo sapiens poly(A) polymerase alpha (PAPOLA), transcript variant 1, mRNA.	423					mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cytoplasm|nucleoplasm	ATP binding|RNA binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity			breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.213)		GTCATTTCCAGCACCCAAAGA	0.383000														82			33		0	0	1	0	0
TMEM132B	114795	broad.mit.edu	37	12	126004064	126004064	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:126004064A>G	uc001uhe.1	+	3	1179	c.1171A>G	c.(1171-1173)Att>Gtt	p.I391V	TMEM132B_uc021rgl.1_Missense_Mutation_p.I281V	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	Homo sapiens transmembrane protein 132B (TMEM132B), mRNA.	391						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		GGCCCAGCAGATTACCTGGCA	0.502000														70			7		0	0	1	0	0
RAB5C	5878	broad.mit.edu	37	17	40280316	40280316	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:40280316T>G	uc010cxx.3	-	4	860	c.503A>C	c.(502-504)aAg>aCg	p.K168T	RAB5C_uc002hyz.3_Missense_Mutation_p.K135T|RAB5C_uc002hza.3_Missense_Mutation_p.K135T	NM_001252039	NP_001238968	P51148	RAB5C_HUMAN	Homo sapiens RAB5C, member RAS oncogene family (RAB5C), transcript variant 3, mRNA.	135					protein transport|small GTPase mediated signal transduction	early endosome membrane|melanosome|plasma membrane	GTP binding|GTPase activity|protein binding			large_intestine(1)|lung(4)|prostate(1)|skin(1)	7		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.128)		CAGGTCTGCCTTGTTACCCGC	0.607000														44			21		0	0	1	0	0
GHR	2690	broad.mit.edu	37	5	42711316	42711316	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:42711316C>A	uc021xxv.1	+	6	784	c.647C>A	c.(646-648)cCt>cAt	p.P216H	GHR_uc003jmt.3_Missense_Mutation_p.P209H|GHR_uc003jmu.3_Missense_Mutation_p.P209H|GHR_uc003jmv.2_Missense_Mutation_p.P209H|GHR_uc021xxw.1_Missense_Mutation_p.P209H|GHR_uc021xxx.1_Missense_Mutation_p.P209H|GHR_uc021xxy.1_Missense_Mutation_p.P209H|GHR_uc021xxz.1_Missense_Mutation_p.P209H|GHR_uc021xya.1_Missense_Mutation_p.P209H|GHR_uc021xyb.1_Missense_Mutation_p.P209H|GHR_uc021xyc.1_Missense_Mutation_p.P209H|GHR_uc011cpq.2_Missense_Mutation_p.P22H|GHR_uc021xyd.1_Missense_Mutation_p.P187H	NM_001242399	NP_001229328	P10912	GHR_HUMAN	Homo sapiens growth hormone receptor (GHR), transcript variant 2, mRNA.	209	Fibronectin type-III.				2-oxoglutarate metabolic process|JAK-STAT cascade|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	AAGATGGACCCTATATTGACA	0.378000														109			9		4.68919e-08	5.46558e-08	1	1	0
SLC12A5	57468	broad.mit.edu	37	20	44665968	44665968	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:44665968C>T	uc010zxl.1	+	5	701	c.625C>T	c.(625-627)Ctg>Ttg	p.L209L	SLC12A5_uc002xra.2_Silent_p.L186L|SLC12A5_uc010zxm.1_Intron|SLC12A5_uc002xrb.2_Silent_p.L186L	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporter), member 5 (SLC12A5), transcript variant 1, mRNA.	209					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	CTGCTTCTACCTGGGCACTAC	0.572000														30			13		0	0	1	0	0
BRMS1L	84312	broad.mit.edu	37	14	36339592	36339592	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:36339592A>G	uc001wtl.3	+	9	1007	c.881A>G	c.(880-882)gAt>gGt	p.D294G		NM_032352	NP_115728	Q5PSV4	BRM1L_HUMAN	Homo sapiens breast cancer metastasis-suppressor 1-like (BRMS1L), mRNA.	294					regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9	Breast(36;0.137)|Hepatocellular(127;0.158)		Lung(8;1.7e-07)|LUAD - Lung adenocarcinoma(9;3e-07)|Epithelial(34;0.00467)|all cancers(34;0.0157)|BRCA - Breast invasive adenocarcinoma(188;0.158)	GBM - Glioblastoma multiforme(112;0.0333)		ATTAACCATGATGAAGTTTGG	0.279000														107			13		0	0	1	0	0
CREBBP	1387	broad.mit.edu	37	16	3788664	3788664	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:3788664G>A	uc002cvv.3	-	25	4494	c.4290C>T	c.(4288-4290)taC>taT	p.Y1430Y	CREBBP_uc002cvw.3_Silent_p.Y1392Y	NM_004380	NP_004371	Q92793	CBP_HUMAN	Homo sapiens CREB binding protein (CREBBP), transcript variant 1, mRNA.	1430	Cys/His-rich.				N-terminal peptidyl-lysine acetylation|cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	MyoD binding|histone acetyltransferase activity|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)		GATAAGAAATGTACACACGCC	0.418000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome							9			10		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140209564	140209564	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140209564G>A	uc003lho.2	+	0	1915	c.1888G>A	c.(1888-1890)Gag>Aag	p.E630K	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_uc003lhn.2_Intron|PCDHAC2_uc011dab.2_Missense_Mutation_p.E630K	NM_018909	NP_061732	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 6 (PCDHA6), transcript variant 1, mRNA.	641	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.D629N(1)		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)			GTACACGGGCGAGATCAGCAC	0.662000														65			7		0	0	1	0	0
DHX57	90957	broad.mit.edu	37	2	39053084	39053084	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:39053084G>A	uc002rrf.3	-	15	3018	c.2919C>T	c.(2917-2919)tgC>tgT	p.C973C	DHX57_uc002rrd.4_Silent_p.C357C|DHX57_uc002rre.3_Silent_p.C406C	NM_198963	NP_945314	Q6P158	DHX57_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57 (DHX57), mRNA.	973	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				ATAAATGGAAGCAGACCCCAG	0.458000														39			23		0	0	1	0	0
CST7	8530	broad.mit.edu	37	20	24939633	24939633	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:24939633C>A	uc002wtx.2	+	2	589	c.313C>A	c.(313-315)Ctg>Atg	p.L105M		NM_003650	NP_003641	O76096	CYTF_HUMAN	Homo sapiens cystatin F (leukocystatin) (CST7), mRNA.	105					immune response	cytoplasm|extracellular region	cysteine-type endopeptidase inhibitor activity			large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	5						AAACCAGCACCTGCGTCTGGA	0.527000														44			28		7.26314e-15	9.11658e-15	1	1	0
EGR3	1960	broad.mit.edu	37	8	22548564	22548564	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:22548564G>T	uc003xcm.1	-	1	944	c.586C>A	c.(586-588)Ctc>Atc	p.L196I	EGR3_uc011kzn.1_Missense_Mutation_p.L158I|EGR3_uc011kzo.2_Missense_Mutation_p.L142I	NM_004430	NP_001186810	Q06889	EGR3_HUMAN	Homo sapiens early growth response 3 (EGR3), transcript variant 1, mRNA.	196					circadian rhythm|muscle organ development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		Prostate(55;0.0421)|Breast(100;0.102)		Colorectal(74;0.0145)|BRCA - Breast invasive adenocarcinoma(99;0.053)|COAD - Colon adenocarcinoma(73;0.0608)		TGGTGGTAGAGGTTGTAGTCA	0.617000														28			25		7.38237e-10	8.84762e-10	1	1	0
ECHDC1	55862	broad.mit.edu	37	6	127611167	127611167	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:127611167C>T	uc003qax.3	-	5	807	c.771G>A	c.(769-771)ccG>ccA	p.P257P	ECHDC1_uc003qaz.4_Silent_p.P251P|ECHDC1_uc010key.3_Silent_p.P176P|ECHDC1_uc003qay.4_3'UTR|ECHDC1_uc010kez.3_3'UTR	NM_001139510	NP_001099014	Q9NTX5	ECHD1_HUMAN	Homo sapiens enoyl CoA hydratase domain containing 1 (ECHDC1), transcript variant 5, mRNA.	257							catalytic activity			large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	4				GBM - Glioblastoma multiforme(226;0.0423)|all cancers(137;0.156)		TAATTACTTCCGGTGGCCCTT	0.398000														81			49		0	0	1	0	0
ZC3H14	79882	broad.mit.edu	37	14	89039186	89039186	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:89039186G>A	uc001xww.3	+	5	921	c.696G>A	c.(694-696)ttG>ttA	p.L232L	ZC3H14_uc010twd.2_Silent_p.L232L|ZC3H14_uc010twe.2_Silent_p.L232L|ZC3H14_uc001xwx.3_Silent_p.L232L|ZC3H14_uc010twf.2_Silent_p.L77L|ZC3H14_uc001xwy.3_Silent_p.L198L|ZC3H14_uc010twg.2_Silent_p.L77L|ZC3H14_uc001xxa.3_5'Flank	NM_024824	NP_079100	Q6PJT7	ZC3HE_HUMAN	Homo sapiens zinc finger CCCH-type containing 14 (ZC3H14), transcript variant 1, mRNA.	232						cytoplasm|nuclear speck	RNA binding|protein binding|zinc ion binding			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						TAAACAGGTTGCAATTTCAAC	0.418000														87			49		0	0	1	0	0
ZNF792	126375	broad.mit.edu	37	19	35450383	35450383	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:35450383G>T	uc002nxh.1	-	3	763	c.376C>A	c.(376-378)Ctg>Atg	p.L126M		NM_175872	NP_787068	Q3KQV3	ZN792_HUMAN	Homo sapiens zinc finger protein 792 (ZNF792), mRNA.	126					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)	12	all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			TGGGGGCACAGAGTTGCCTCG	0.507000														86			9		0.000442599	0.000473562	1	1	0
MAN2B1	4125	broad.mit.edu	37	19	12762982	12762982	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:12762982C>T	uc002mub.2	-	15	2107	c.2031G>A	c.(2029-2031)caG>caA	p.Q677Q	MAN2B1_uc010dyv.1_Silent_p.Q676Q	NM_000528	NP_000519	O00754	MA2B1_HUMAN	Homo sapiens mannosidase, alpha, class 2B, member 1 (MAN2B1), transcript variant 1, mRNA.	677					protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CCAGGTGGATCTGAGCCCAGC	0.557000														45			18		0	0	1	0	0
CSTF2	1478	broad.mit.edu	37	X	100081697	100081697	+	Missense_Mutation	SNP	A	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:100081697A>T	uc004egh.3	+	6	835	c.777A>T	c.(775-777)caA>caT	p.Q259H	CSTF2_uc010nnd.3_Missense_Mutation_p.Q259H|CSTF2_uc004egi.3_Missense_Mutation_p.Q242H	NM_001325	NP_001316	P33240	CSTF2_HUMAN	Homo sapiens cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa (CSTF2), mRNA.	259	Gly/Pro-rich.				mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cleavage body|mRNA cleavage and polyadenylation specificity factor complex	RNA binding|nucleotide binding|protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	13						CACCAGGGCAAATGCCAGCTG	0.483000														32			5		0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164776843	164776843	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:164776843C>T	uc003fei.3	-	11	1369	c.1306G>A	c.(1306-1308)Gcc>Acc	p.A436T		NM_001041	NP_001032	P14410	SUIS_HUMAN	Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA.	436	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	Golgi apparatus|apical plasma membrane|brush border|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	GTTCCATTGGCACGTCGACCT	0.363000										HNSCC(35;0.089)				20			16		0	0	1	0	0
CLEC4G	339390	broad.mit.edu	37	19	7794735	7794735	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:7794735A>G	uc002mhp.4	-	7	784	c.715T>C	c.(715-717)Tgg>Cgg	p.W239R	CLEC4G_uc021uny.1_Missense_Mutation_p.W227R	NM_198492	NP_940894	Q6UXB4	CLC4G_HUMAN	Homo sapiens C-type lectin domain family 4, member G (CLEC4G), transcript variant 1, mRNA.	239	C-type lectin.					integral to membrane	protein binding|sugar binding			breast(1)|cervix(2)|endometrium(1)|large_intestine(1)|lung(1)	6						CCGTCCACCCACTGGTAGCCC	0.607000														56			22		0	0	1	0	0
AIG1	51390	broad.mit.edu	37	6	143654485	143654485	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:143654485A>G	uc003qjh.3	+	4	622	c.582A>G	c.(580-582)ggA>ggG	p.G194G	AIG1_uc003qjf.3_Silent_p.G184G|AIG1_uc003qji.3_Silent_p.G132G	NM_016108	NP_057192	Q9NVV5	AIG1_HUMAN	Homo sapiens androgen-induced 1 (AIG1), mRNA.	194						integral to membrane				endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(155;2.34e-05)|GBM - Glioblastoma multiforme(68;0.0246)		TTGGCCCAGGAGCCAGAATCA	0.468000														85			89		0	0	1	0	0
SPRY4	81848	broad.mit.edu	37	5	141694663	141694663	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:141694663G>A	uc010jgi.1	-	2	321	c.80C>T	c.(79-81)cCg>cTg	p.P27L	SPRY4_uc003lml.2_Missense_Mutation_p.P4L|SPRY4_uc021yet.1_Missense_Mutation_p.P4L	NM_030964	NP_001120968	Q9C004	SPY4_HUMAN	Homo sapiens sprouty homolog 4 (Drosophila) (SPRY4), transcript variant 1, mRNA.	4					multicellular organismal development	cytoplasm|ruffle membrane	protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(1)	18		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGTGGGATCGGGGGCTCCAT	0.627000									Testicular Cancer, Familial Clustering of					20			13		0	0	1	0	0
MTTP	4547	broad.mit.edu	37	4	100543915	100543915	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:100543915A>G	uc011cej.2	+	17	2689	c.2676A>G	c.(2674-2676)ggA>ggG	p.G892G	MTTP_uc003hvc.4_Silent_p.G865G	NM_000253	NP_000244	P55157	MTP_HUMAN	Homo sapiens microsomal triglyceride transfer protein (MTTP), mRNA.	865					lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity	p.G892*(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)	TATTAGCAGGATGTGAATTCC	0.458000														103			11		0	0	1	0	0
POLR3B	55703	broad.mit.edu	37	12	106903274	106903274	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:106903274C>T	uc001tlp.3	+	27	3571	c.3349C>T	c.(3349-3351)Cta>Tta	p.L1117L	LOC100287944_uc021rdg.1_Intron|POLR3B_uc001tlq.3_Silent_p.L1059L	NM_018082	NP_001154180	Q9NW08	RPC2_HUMAN	Homo sapiens polymerase (RNA) III (DNA directed) polypeptide B (POLR3B), transcript variant 1, mRNA.	1117					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						CTTCCAGGAACTACAGTCTAT	0.443000														57			21		0	0	1	0	0
NFIC	4782	broad.mit.edu	37	19	3382050	3382050	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:3382050C>T	uc010xhi.2	+	1	441	c.371C>T	c.(370-372)gCg>gTg	p.A124V	NFIC_uc002lxo.3_Missense_Mutation_p.A115V|NFIC_uc010xhh.2_Missense_Mutation_p.A115V|NFIC_uc010xhj.2_Missense_Mutation_p.A124V|NFIC_uc002lxp.3_Missense_Mutation_p.A124V	NM_001245002	NP_001231931	P08651	NFIC_HUMAN	Homo sapiens nuclear factor I/C (CCAAT-binding transcription factor) (NFIC), transcript variant 1, mRNA.	124					DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191)		CTCCGGCAGGCGGACAAGGTG	0.662000														63			44		0	0	1	0	0
NOL4	8715	broad.mit.edu	37	18	31685089	31685089	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:31685089C>T	uc010dmi.3	-	2	748	c.450G>A	c.(448-450)gcG>gcA	p.A150A	NOL4_uc002kxr.4_5'UTR|NOL4_uc010xbt.2_Silent_p.A76A|NOL4_uc010dmh.3_Silent_p.A76A|NOL4_uc010xbu.2_Silent_p.A150A|NOL4_uc002kxt.4_Silent_p.A150A	NM_003787	NP_001185478	O94818	NOL4_HUMAN	Homo sapiens nucleolar protein 4 (NOL4), transcript variant 1, mRNA.	150						nucleolus	RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						ATCGTGTCACCGCTTCTCTTG	0.393000														66			37		0	0	1	0	0
COL1A2	1278	broad.mit.edu	37	7	94039589	94039589	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:94039589C>T	uc003ung.1	+	19	1542	c.1071C>T	c.(1069-1071)agC>agT	p.S357S	COL1A2_uc011kib.1_Intron	NM_000089	NP_000080	P08123	CO1A2_HUMAN	Homo sapiens collagen, type I, alpha 2 (COL1A2), mRNA.	357					Rho protein signal transduction|axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|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)	AAGGAGAGAGCGGTAACAAGG	0.418000										HNSCC(75;0.22)				20			20		0	0	1	0	0
USP33	23032	broad.mit.edu	37	1	78183609	78183609	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:78183609C>A	uc001dht.3	-	17	2301	c.1954G>T	c.(1954-1956)Gct>Tct	p.A652S	USP33_uc001dhs.3_Missense_Mutation_p.A373S|USP33_uc001dhu.3_Missense_Mutation_p.A621S|USP33_uc001dhv.3_Missense_Mutation_p.A457S|USP33_uc001dhw.3_Missense_Mutation_p.A644S	NM_015017	NP_963918	Q8TEY7	UBP33_HUMAN	Homo sapiens ubiquitin specific peptidase 33 (USP33), transcript variant 1, mRNA.	652					axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	VCB complex|perinuclear region of cytoplasm	G-protein-coupled receptor binding|cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						ACAATTTGAGCTGGACTATCC	0.363000														134			49		2.27781e-18	2.91874e-18	1	1	0
ZNF600	162966	broad.mit.edu	37	19	53270475	53270475	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:53270475C>T	uc002qab.4	-	2	820	c.534G>A	c.(532-534)agG>agA	p.R178R	ZNF600_uc021uyz.1_Silent_p.R178R	NM_198457	NP_940859	Q6ZNG1	ZN600_HUMAN	Homo sapiens zinc finger protein 600 (ZNF600), mRNA.	178					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)		TCTGGTGTTTCCTTAAGAGTG	0.368000														102			62		0	0	1	0	0
ZNF665	79788	broad.mit.edu	37	19	53668765	53668765	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:53668765G>T	uc010eqm.1	-	3	1078	c.978C>A	c.(976-978)gcC>gcA	p.A326A		NM_024733	NP_079009	Q9H7R5	ZN665_HUMAN	Homo sapiens zinc finger protein 665 (ZNF665), mRNA.	261					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		GAACACTAAAGGCTTTGCCAC	0.433000														99			8		0.000157383	0.000170012	1	1	0
ADA	100	broad.mit.edu	37	20	43251484	43251484	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:43251484T>G	uc002xmj.3	-	7	894	c.766A>C	c.(766-768)Aac>Cac	p.N256H		NM_000022	NP_000013	P00813	ADA_HUMAN	Homo sapiens adenosine deaminase (ADA), mRNA.	256					T cell activation|adenosine catabolic process|cell adhesion|hypoxanthine salvage|inosine biosynthetic process|negative regulation of adenosine receptor signaling pathway|purine nucleotide salvage|purine ribonucleoside monophosphate biosynthetic process|regulation of cell-cell adhesion mediated by integrin|response to hypoxia	cell junction|cytoplasmic membrane-bounded vesicle lumen|cytosol|external side of plasma membrane|lysosome	adenosine deaminase activity|protein binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(2)|prostate(3)|skin(2)|urinary_tract(1)	18		all_lung(126;1.24e-07)|Lung NSC(126;1.94e-07)|Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)		Adenosine(DB00640)|Cladribine(DB00242)|Dipyridamole(DB00975)|Erythromycin(DB00199)|Fludarabine(DB01073)|Idoxuridine(DB00249)|Nelarabine(DB01280)|Pentostatin(DB00552)|Theophylline(DB00277)|Vidarabine(DB00194)	AAGTGCATGTTTTCCTGCCGC	0.592000									Adenosine Deaminase Deficiency					95			46		0	0	1	0	0
JAG2	3714	broad.mit.edu	37	14	105615643	105615643	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:105615643A>G	uc001yqg.3	-	12	2021	c.1617T>C	c.(1615-1617)ctT>ctC	p.L539L	JAG2_uc001yqf.3_5'UTR|JAG2_uc001yqh.3_Silent_p.L501L	NM_002226	NP_002217	Q9Y219	JAG2_HUMAN	Homo sapiens jagged 2 (JAG2), transcript variant 1, mRNA.	539	EGF-like 9.				Notch receptor processing|Notch signaling pathway|auditory receptor cell fate commitment|cell communication|cell cycle|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	Notch binding|calcium ion binding|growth factor activity	p.D538N(2)		breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		TTGGCTCACAAAGGTCGACAT	0.622000														79			6		0	0	1	0	0
DOK4	55715	broad.mit.edu	37	16	57507814	57507814	+	Splice_Site	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:57507814C>T	uc010cdb.3	-	6	998	c.738_splice	c.e6+1	p.R246_splice	DOK4_uc002elv.4_Splice_Site_p.R246_splice	NM_018110	NP_060580	Q8TEW6	DOK4_HUMAN	Homo sapiens docking protein 4 (DOK4), mRNA.	246							insulin receptor binding			kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(2)	6						CTGCCTCACCCTCACGTTCTT	0.652000														37			13		0	0	1	0	0
UBE3C	9690	broad.mit.edu	37	7	156994433	156994433	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:156994433C>A	uc010lqs.3	+	10	1662	c.1350C>A	c.(1348-1350)gcC>gcA	p.A450A	UBE3C_uc003wng.2_Silent_p.A450A	NM_014671	NP_055486	Q15386	UBE3C_HUMAN	Homo sapiens ubiquitin protein ligase E3C (UBE3C), mRNA.	450					protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		ACAGTTTAGCCTTTAATGCCA	0.308000														101			32		6.90743e-12	8.48061e-12	1	1	0
SLC44A5	204962	broad.mit.edu	37	1	75699770	75699770	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:75699770C>T	uc010oqz.1	-	10	937	c.871G>A	c.(871-873)Gcc>Acc	p.A291T	SLC44A5_uc001dgt.2_Missense_Mutation_p.A252T|SLC44A5_uc001dgs.2_Missense_Mutation_p.A210T|SLC44A5_uc001dgr.2_Missense_Mutation_p.A210T|SLC44A5_uc001dgu.3_Missense_Mutation_p.A252T|SLC44A5_uc010ora.2_Missense_Mutation_p.A246T|SLC44A5_uc010orb.2_Missense_Mutation_p.A122T	NM_001130058	NP_001123530	Q8NCS7	CTL5_HUMAN	Homo sapiens solute carrier family 44, member 5 (SLC44A5), transcript variant 2, mRNA.	252						integral to membrane|plasma membrane	choline transmembrane transporter activity	p.Q291H(1)		kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						AGGACCATGGCAATCGTCAGG	0.388000														40			28		0	0	1	0	0
ITGB3	3690	broad.mit.edu	37	17	45367564	45367564	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:45367564T>C	uc002ilj.3	+	7	1069	c.1049T>C	c.(1048-1050)cTc>cCc	p.L350P	ITGB3_uc002ili.1_Missense_Mutation_p.L350P|ITGB3_uc010wkr.1_Non-coding_Transcript	NM_000212	NP_000203	P05106	ITB3_HUMAN	Homo sapiens integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61) (ITGB3), mRNA.	350	VWFA.				activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development	alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane	cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	39					Abciximab(DB00054)|Tirofiban(DB00775)	TATAGTGAGCTCATCCCAGGG	0.493000														72			36		0	0	1	0	0
P2RY4	5030	broad.mit.edu	37	X	69478906	69478906	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:69478906C>T	uc004dxz.1	-	0	749	c.569G>A	c.(568-570)cGg>cAg	p.R190Q		NM_002565	NP_002556	P51582	P2RY4_HUMAN	Homo sapiens pyrimidinergic receptor P2Y, G-protein coupled, 4 (P2RY4), mRNA.	190					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.R190P(2)|p.R190S(2)|p.R190W(1)		cervix(2)|endometrium(2)|large_intestine(8)|lung(6)	18						CTCTTCAGGCCGAGTGGTGTC	0.572000														27			16		0	0	1	0	0
PASK	23178	broad.mit.edu	37	2	242062244	242062244	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:242062244T>G	uc002wao.2	-	11	3108	c.2975A>C	c.(2974-2976)gAg>gCg	p.E992A	PASK_uc010zol.2_Missense_Mutation_p.E806A|PASK_uc010zom.2_Missense_Mutation_p.E957A|PASK_uc010fzl.2_Missense_Mutation_p.E992A|PASK_uc010zon.2_Missense_Mutation_p.E773A|PASK_uc021vzf.1_Missense_Mutation_p.E992A|PASK_uc002wap.3_Missense_Mutation_p.E535A|PASK_uc002waq.3_Missense_Mutation_p.E992A	NM_015148	NP_055963	Q96RG2	PASK_HUMAN	Homo sapiens PAS domain containing serine/threonine kinase (PASK), transcript variant 2, mRNA.	992					regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		GTACTCGCCCTCACAGGCCGC	0.587000														42			5		0	0	1	0	0
NAALADL1	10004	broad.mit.edu	37	11	64824954	64824954	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:64824954G>T	uc001ocn.3	-	3	508	c.492C>A	c.(490-492)gtC>gtA	p.V164V	NAALADL1_uc010rnw.2_5'UTR	NM_005468	NP_005459	Q9UQQ1	NALDL_HUMAN	Homo sapiens N-acetylated alpha-linked acidic dipeptidase-like 1 (NAALADL1), mRNA.	164					proteolysis	apical plasma membrane|integral to membrane	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	29						GGTTGGCATAGACGAGGAGGC	0.592000														26			8		1.12685e-05	1.25391e-05	1	1	0
CCDC125	202243	broad.mit.edu	37	5	68616261	68616261	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:68616261G>T	uc003jvv.1	-	0	147	c.107C>A	c.(106-108)cCt>cAt	p.P36H	CCDC125_uc003jvx.1_Missense_Mutation_p.P36H|CCDC125_uc003jvy.1_Intron|CCDC125_uc003jvw.2_Intron|CCDC125_uc003jvz.1_Missense_Mutation_p.P36H	NM_176816	NP_789786	Q86Z20	CC125_HUMAN	Homo sapiens coiled-coil domain containing 125 (CCDC125), mRNA.	36						cytoplasm				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|urinary_tract(1)	19		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.2e-56)|Epithelial(20;2.31e-52)|all cancers(19;5.85e-48)|Lung(70;0.0183)		AATCCCACCAGGTTTCCTTCC	0.438000														105			9		3.86212e-05	4.23294e-05	1	1	0
SLC5A8	160728	broad.mit.edu	37	12	101603623	101603623	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:101603623C>A	uc001thz.4	-	0	394	c.4G>T	c.(4-6)Gac>Tac	p.D2Y		NM_145913	NP_666018	Q8N695	SC5A8_HUMAN	Homo sapiens solute carrier family 5 (iodide transporter), member 8 (SLC5A8), mRNA.	2					apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CGTGGCGTGTCCATGGCCGCA	0.706000														6			4		0.014758	0.0151755	1	1	0
VWA3A	146177	broad.mit.edu	37	16	22142596	22142596	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:22142596T>G	uc010vbq.2	+	17	1819	c.1723T>G	c.(1723-1725)Tgg>Ggg	p.W575G	VWA3A_uc010bxd.3_Non-coding_Transcript|VWA3A_uc010bxc.2_Missense_Mutation_p.W583G	NM_173615	NP_775886	A6NCI4	VWA3A_HUMAN	Homo sapiens von Willebrand factor A domain containing 3A (VWA3A), mRNA.	575	VWFA 1.					extracellular region				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		ACAAAGTGCCTGGCGGTAGGT	0.493000														19			14		0	0	1	0	0
MAP7D3	79649	broad.mit.edu	37	X	135314193	135314193	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:135314193T>C	uc004ezt.3	-	7	1144	c.923A>G	c.(922-924)cAg>cGg	p.Q308R	MAP7D3_uc004ezs.3_Missense_Mutation_p.Q273R|MAP7D3_uc011mwc.2_Missense_Mutation_p.Q290R|MAP7D3_uc010nsa.2_Missense_Mutation_p.Q266R	NM_024597	NP_078873	Q8IWC1	MA7D3_HUMAN	Homo sapiens MAP7 domain containing 3 (MAP7D3), transcript variant 1, mRNA.	308						cytoplasm|spindle				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					CACATTCACCTGGGGGGGTGC	0.537000														261			17		0	0	1	0	0
OR10Q1	219960	broad.mit.edu	37	11	57996253	57996253	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:57996253A>G	uc010rkd.2	-	0	138	c.95T>C	c.(94-96)tTc>tCc	p.F32S		NM_001004471	NP_001004471	Q8NGQ4	O10Q1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily Q, member 1 (OR10Q1), mRNA.	32					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35		Breast(21;0.0589)				GAAGAGAAGGAAGAGAAGAAC	0.522000														109			7		0	0	1	0	0
OR2K2	26248	broad.mit.edu	37	9	114089774	114089774	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:114089774C>T	uc011lwp.2	-	0	940	c.940G>A	c.(940-942)Gaa>Aaa	p.E314K		NM_205859	NP_995581	Q8NGT1	OR2K2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily K, member 2 (OR2K2), mRNA.	343					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E314K(2)|p.E343K(1)		breast(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)	20						CAGAGATGTTCGTGTGTTTGA	0.408000														41			20		0	0	1	0	0
ZFHX3	463	broad.mit.edu	37	16	72832394	72832394	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:72832394C>T	uc002fck.3	-	8	4860	c.4187G>A	c.(4186-4188)cGc>cAc	p.R1396H	ZFHX3_uc002fcl.3_Missense_Mutation_p.R482H	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	1396					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GTACACATGGCGATCTGACAC	0.502000														43			24		0	0	1	0	0
PDXK	8566	broad.mit.edu	37	21	45165991	45165991	+	Silent	SNP	C	T	T	rs117861720	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:45165991C>T	uc002zdm.4	+	4	561	c.363C>T	c.(361-363)gaC>gaT	p.D121D	PDXK_uc002zdn.4_Silent_p.D93D	NM_003681	NP_003672	O00764	PDXK_HUMAN	Homo sapiens pyridoxal (pyridoxine, vitamin B6) kinase (PDXK), mRNA.	121					cell proliferation|pyridoxal 5'-phosphate salvage	cytosol	ATP binding|lithium ion binding|magnesium ion binding|potassium ion binding|protein homodimerization activity|pyridoxal kinase activity|pyridoxal phosphate binding|sodium ion binding|zinc ion binding			endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5				Colorectal(79;0.109)|READ - Rectum adenocarcinoma(84;0.161)|STAD - Stomach adenocarcinoma(101;0.18)	Pyridoxal(DB00147)|Pyridoxine(DB00165)	ACAAGTGGGACGGCGAAGGCT	0.498000														31			7		0	0	1	0	0
ZNF673	55634	broad.mit.edu	37	X	46322661	46322661	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:46322661C>A	uc004dgn.4	+	4	470	c.171C>A	c.(169-171)atC>atA	p.I57I	ZNF673_uc004dgp.4_Silent_p.I57I|ZNF673_uc010nhl.3_Silent_p.I57I|ZNF673_uc004dgm.4_Silent_p.I57I	NM_001129898	NP_001123370	Q5JUW0	ZN673_HUMAN	Homo sapiens zinc finger family member 673 (ZNF673), transcript variant 1, mRNA.	57	KRAB.				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding			large_intestine(1)|lung(3)|skin(2)	6						CAGATGTGATCTTCAGGTTGG	0.567000														42			21		3.8784e-16	4.905e-16	1	1	0
TSNAX	7257	broad.mit.edu	37	1	231673028	231673028	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:231673028C>T	uc001huw.3	+	2	349	c.191C>T	c.(190-192)aCt>aTt	p.T64I	DISC1_uc010pwe.2_5'UTR|DISC1_uc010pwf.2_5'UTR|DISC1_uc010pwj.1_5'UTR|DISC1_uc010pwk.1_5'UTR|DISC1_uc010pwg.1_5'UTR|DISC1_uc010pwh.1_5'UTR|DISC1_uc010pwi.1_Intron|DISC1_uc010pwl.2_Non-coding_Transcript	NM_005999	NP_005990	Q99598	TSNAX_HUMAN	Homo sapiens translin-associated factor X (TSNAX), mRNA.	64					cell differentiation|multicellular organismal development|spermatogenesis	nucleus|perinuclear region of cytoplasm	protein transporter activity|sequence-specific DNA binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	9		all_cancers(173;0.0395)|Acute lymphoblastic leukemia(190;3.76e-06)|Prostate(94;0.116)				CGGGATATAACTGTTGAAAGT	0.328000														43			20		0	0	1	0	0
SSH2	85464	broad.mit.edu	37	17	27959346	27959346	+	Nonsense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:27959346C>A	uc002heo.1	-	14	2785	c.2785G>T	c.(2785-2787)Gaa>Taa	p.E929*	SSH2_uc010wbh.1_Nonsense_Mutation_p.E956*	NM_033389	NP_203747	Q76I76	SSH2_HUMAN	Homo sapiens slingshot homolog 2 (Drosophila) (SSH2), mRNA.	929					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TTGCTCATTTCTGGTTCCTTG	0.488000														129			77		2.40982e-25	3.15347e-25	1	1	0
SORBS2	8470	broad.mit.edu	37	4	186573858	186573858	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:186573858A>G	uc003iyg.3	-	5	582	c.550T>C	c.(550-552)Tac>Cac	p.Y184H	SORBS2_uc003iyh.3_Missense_Mutation_p.Y277H|SORBS2_uc011ckw.2_Missense_Mutation_p.Y167H|SORBS2_uc003iyi.3_Missense_Mutation_p.Y184H|SORBS2_uc011ckx.2_Missense_Mutation_p.Y144H|SORBS2_uc003iyk.3_Missense_Mutation_p.Y184H|SORBS2_uc003iym.3_Missense_Mutation_p.Y198H|SORBS2_uc003iyl.3_Missense_Mutation_p.Y98H|SORBS2_uc003iyn.1_Missense_Mutation_p.Y144H|SORBS2_uc011cky.1_Missense_Mutation_p.Y161H|SORBS2_uc011cku.2_Missense_Mutation_p.Y17H|SORBS2_uc011ckv.2_Missense_Mutation_p.Y17H|SORBS2_uc003iyd.3_Missense_Mutation_p.Y277H|SORBS2_uc003iye.3_Missense_Mutation_p.Y98H|SORBS2_uc003iya.3_Missense_Mutation_p.Y98H|SORBS2_uc003iyb.3_Missense_Mutation_p.Y98H|SORBS2_uc003iyc.3_Missense_Mutation_p.Y98H|SORBS2_uc003iyf.3_Missense_Mutation_p.Y161H|SORBS2_uc003iyo.1_Missense_Mutation_p.Y17H	NM_021069	NP_066547	O94875	SRBS2_HUMAN	Homo sapiens sorbin and SH3 domain containing 2 (SORBS2), transcript variant 2, mRNA.	98						Z disc|actin cytoskeleton|nucleus|perinuclear region of cytoplasm	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		ATCGTCTTGTACCAGTCCTTG	0.473000														61			5		0	0	1	0	0
LTBP1	4052	broad.mit.edu	37	2	33518329	33518329	+	Missense_Mutation	SNP	C	T	T	rs150123521		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:33518329C>T	uc021vft.1	+	19	3238	c.3215C>T	c.(3214-3216)cCg>cTg	p.P1072L	LTBP1_uc002rou.3_Missense_Mutation_p.P746L|LTBP1_uc002rov.3_Missense_Mutation_p.P693L|LTBP1_uc010ymz.2_Missense_Mutation_p.P746L|LTBP1_uc010yna.2_Missense_Mutation_p.P693L|LTBP1_uc010ynb.2_Missense_Mutation_p.P12L	NM_206943	NP_996826	Q14766	LTBP1_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 1 (LTBP1), transcript variant 1, mRNA.	1072	EGF-like 8; calcium-binding (Potential).				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				ACCCGGACTCCGGACCACAAG	0.428000														28			22		0	0	1	0	0
SLC25A40	55972	broad.mit.edu	37	7	87476283	87476283	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:87476283A>G	uc003uje.3	-	7	987	c.612T>C	c.(610-612)ctT>ctC	p.L204L		NM_018843	NP_061331	Q8TBP6	S2540_HUMAN	Homo sapiens solute carrier family 25, member 40 (SLC25A40), nuclear gene encoding mitochondrial protein, mRNA.	204					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	17	Esophageal squamous(14;0.00202)					GTACATCTCTAAGAACAGTAG	0.378000														154			7		0	0	1	0	0
GCM1	8521	broad.mit.edu	37	6	52993556	52993556	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:52993556C>T	uc003pbp.3	-	5	968	c.759G>A	c.(757-759)caG>caA	p.Q253Q		NM_003643	NP_003634	Q9NP62	GCM1_HUMAN	Homo sapiens glial cells missing homolog 1 (Drosophila) (GCM1), mRNA.	253						transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1)	24	Lung NSC(77;0.0755)					CAGTGGAAGTCTGGTCAGTCA	0.473000														32			25		0	0	1	0	0
EPS8	2059	broad.mit.edu	37	12	15774360	15774360	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:15774360C>T	uc009zif.3	-	20	2454	c.2360G>A	c.(2359-2361)aGc>aAc	p.S787N	EPS8_uc001rdb.3_Missense_Mutation_p.S787N|EPS8_uc009zig.3_Missense_Mutation_p.S527N|EPS8_uc010shv.2_Missense_Mutation_p.S527N	NM_004447	NP_004438	Q12929	EPS8_HUMAN	Homo sapiens epidermal growth factor receptor pathway substrate 8 (EPS8), mRNA.	787					cell proliferation|epidermal growth factor receptor signaling pathway		SH3/SH2 adaptor activity			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)		GCTGCCACTGCTATCCTGAAA	0.418000														16			5		0	0	1	0	0
CNST	163882	broad.mit.edu	37	1	246829045	246829045	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:246829045C>T	uc001ibp.3	+	10	2394	c.2016C>T	c.(2014-2016)tgC>tgT	p.C672C		NM_152609	NP_689822	Q6PJW8	CNST_HUMAN	Homo sapiens consortin, connexin sorting protein (CNST), transcript variant 1, mRNA.	672					positive regulation of Golgi to plasma membrane protein transport	integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle	connexin binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2)	28						TCTTGCTGTGCATAGCAACGG	0.448000														62			34		0	0	1	0	0
TUBB	203068	broad.mit.edu	37	6	30691217	30691217	+	Silent	SNP	C	T	T	rs147158826		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:30691217C>T	uc003nrl.3	+	3	505	c.378C>T	c.(376-378)agC>agT	p.S126S	TUBB_uc011dmq.2_Silent_p.S54S	NM_178014	NP_821133	P07437	TBB5_HUMAN	Homo sapiens tubulin, beta class I (TUBB), mRNA.	126					G2/M transition of mitotic cell cycle|cellular component movement|microtubule-based movement|natural killer cell mediated cytotoxicity|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|MHC class I protein binding			breast(1)|endometrium(1)|kidney(8)|large_intestine(3)|lung(1)|ovary(1)|urinary_tract(1)	16					Colchicine(DB01394)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)	AGGCAGAGAGCTGTGACTGCC	0.592000														26			16		0	0	1	0	0
SZT2	23334	broad.mit.edu	37	1	43902861	43902861	+	Missense_Mutation	SNP	C	A	A	rs138657693		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:43902861C>A	uc001cjk.2	+	41	5967	c.3357C>A	c.(3355-3357)agC>agA	p.S1119R		NM_015284	NP_056099	Q5T011	SZT2_HUMAN	Homo sapiens seizure threshold 2 homolog (mouse) (SZT2), mRNA.	2018						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						CTGATGAGAGCTGTGCGCCCC	0.577000														64			41		1.7489e-18	2.24252e-18	1	1	0
MRPL55	128308	broad.mit.edu	37	1	228294577	228294577	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:228294577C>T	uc001hrz.4	-	5	668	c.379G>A	c.(379-381)Gcc>Acc	p.A127T	MRPL55_uc001hsg.4_Missense_Mutation_p.A91T|MRPL55_uc009xex.3_Missense_Mutation_p.A91T|MRPL55_uc001hsa.4_Missense_Mutation_p.A91T|MRPL55_uc001hsb.4_Missense_Mutation_p.A91T|MRPL55_uc001hsc.4_Missense_Mutation_p.A91T|MRPL55_uc001hsd.4_Missense_Mutation_p.A91T|MRPL55_uc001hse.4_Missense_Mutation_p.A91T|MRPL55_uc001hsf.4_Missense_Mutation_p.A91T	NM_181462	NP_852127	Q7Z7F7	RM55_HUMAN	Homo sapiens mitochondrial ribosomal protein L55 (MRPL55), nuclear gene encoding mitochondrial protein, transcript variant 4, mRNA.	91					translation	mitochondrial large ribosomal subunit	structural constituent of ribosome			central_nervous_system(1)|lung(4)	5		Prostate(94;0.0405)				CGCAGCCTGGCCCGGCGCTCC	0.597000														42			35		0	0	1	0	0
HARS2	23438	broad.mit.edu	37	5	140075366	140075366	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140075366C>T	uc003lgx.3	+	5	785	c.569C>T	c.(568-570)gCa>gTa	p.A190V	HARS2_uc010jfv.1_Missense_Mutation_p.A120V|HARS2_uc011czr.2_Missense_Mutation_p.A165V|HARS2_uc011czs.2_Missense_Mutation_p.A46V|HARS2_uc011czt.2_Missense_Mutation_p.A51V|HARS2_uc011czu.2_Missense_Mutation_p.A49V	NM_012208	NP_036340	P49590	SYHM_HUMAN	Homo sapiens histidyl-tRNA synthetase 2, mitochondrial (putative) (HARS2), nuclear gene encoding mitochondrial protein, mRNA.	190					histidyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|histidine-tRNA ligase activity			NS(1)|endometrium(3)|large_intestine(5)|lung(10)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATCCCCGATGCAGAGTGTTTG	0.448000														98			41		0	0	1	0	0
DHX40	79665	broad.mit.edu	37	17	57644083	57644083	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:57644083T>C	uc002ixn.2	+	1	355	c.208T>C	c.(208-210)Tca>Cca	p.S70P	DHX40_uc010woe.2_Intron|DHX40_uc002ixo.1_5'UTR	NM_024612	NP_078888	Q8IX18	DHX40_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 40 (DHX40), transcript variant 1, mRNA.	70	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			endometrium(7)|large_intestine(6)|lung(6)|prostate(1)	20	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					GAGGGACAATTCATTCCTTAT	0.363000														48			8		0	0	1	0	0
SPTBN1	6711	broad.mit.edu	37	2	54885015	54885015	+	Silent	SNP	C	T	T	rs144327595	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:54885015C>T	uc002rxu.3	+	29	6324	c.6075C>T	c.(6073-6075)gaC>gaT	p.D2025D	SPTBN1_uc002rxx.3_Silent_p.D2012D|SPTBN1_uc002rxy.3_Silent_p.D170D|SPTBN1_uc010you.2_Silent_p.D15D	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 1 (SPTBN1), transcript variant 1, mRNA.	2025	Interaction with ANK2.				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			TCTCAAGAGACGCCAGTGTGG	0.587000											OREG0014619	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		32			14		0	0	1	0	0
COL7A1	1294	broad.mit.edu	37	3	48608556	48608556	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:48608556G>T	uc003ctz.2	-	92	7143	c.7142C>A	c.(7141-7143)cCt>cAt	p.P2381H		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA.	2381	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		AGGGCCAGGAGGCCCAGGGGA	0.632000														51			16		1.15088e-07	1.32926e-07	1	1	0
KCNJ16	3773	broad.mit.edu	37	17	68129430	68129430	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:68129430C>A	uc002jiq.3	+	2	1438	c.1298C>A	c.(1297-1299)cCt>cAt	p.P433H	KCNJ16_uc002jin.3_Missense_Mutation_p.P401H|KCNJ16_uc002jio.3_Missense_Mutation_p.P401H|KCNJ16_uc002jip.3_Missense_Mutation_p.P401H|KCNJ16_uc021uch.1_Missense_Mutation_p.P401H	NM_170742	NP_733938	Q9NPI9	IRK16_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 16 (KCNJ16), transcript variant 3, mRNA.	401					synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	32	Breast(10;2.96e-09)					AGGGAAACACCTTATCAGAAA	0.428000														60			5		1	1	1	1	0
EFCAB4B	84766	broad.mit.edu	37	12	3788265	3788265	+	Splice_Site	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:3788265C>A	uc010sen.1	-	6	913	c.341_splice	c.e6-1	p.S114_splice	EFCAB4B_uc001qmj.2_Splice_Site_p.S114_splice	NM_001144958	NP_001138430	Q9BSW2	EFC4B_HUMAN	Homo sapiens EF-hand calcium binding domain 4B (EFCAB4B), transcript variant 1, mRNA.	114	EF-hand 2.				activation of store-operated calcium channel activity|store-operated calcium entry	cytoplasm	calcium ion binding|protein binding			breast(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)			AAGAAGTGACCTGGGGGGTGC	0.522000														35			17		9.16793e-09	1.08001e-08	1	1	0
ZDHHC5	25921	broad.mit.edu	37	11	57466563	57466563	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:57466563G>A	uc001nkx.1	+	10	2911	c.1655G>A	c.(1654-1656)cGc>cAc	p.R552H	ZDHHC5_uc001nky.1_Missense_Mutation_p.R499H|ZDHHC5_uc001nkz.1_Missense_Mutation_p.R366H	NM_015457	NP_056272	Q9C0B5	ZDHC5_HUMAN	Homo sapiens zinc finger, DHHC-type containing 5 (ZDHHC5), mRNA.	552						integral to membrane	acyltransferase activity|zinc ion binding			endometrium(6)|kidney(3)|large_intestine(3)|lung(5)|skin(1)	18						AAGTTGCTGCGCCAGTCACCC	0.617000														47			40		0	0	1	0	0
CXCR7	57007	broad.mit.edu	37	2	237489982	237489982	+	Missense_Mutation	SNP	G	A	A	rs149226214		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:237489982G>A	uc021vys.1	+	0	874	c.874G>A	c.(874-876)Gcc>Acc	p.A292T	CXCR7_uc010fyq.3_Missense_Mutation_p.A292T|CXCR7_uc002vwd.3_Missense_Mutation_p.A292T	NM_020311	NP_064707	P25106	CXCR7_HUMAN	Homo sapiens chemokine (C-X-C motif) receptor 7 (CXCR7), mRNA.	292					interspecies interaction between organisms	integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			central_nervous_system(1)|large_intestine(2)|skin(1)	4		Breast(86;0.000182)|Renal(207;0.00339)|all_hematologic(139;0.0048)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|all_lung(227;0.147)|all_neural(83;0.223)		Epithelial(121;8.35e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.09e-11)|Kidney(56;1.11e-07)|KIRC - Kidney renal clear cell carcinoma(57;3.03e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000176)|Lung(119;0.00468)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.118)		GCTGGAGCACGCCCTCTTCAC	0.592000														63			35		0	0	1	0	0
CPEB4	80315	broad.mit.edu	37	5	173380103	173380103	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:173380103C>T	uc003mcs.4	+	8	3196	c.1790C>T	c.(1789-1791)gCg>gTg	p.A597V	CPEB4_uc010jju.2_Missense_Mutation_p.A572V|CPEB4_uc010jjv.3_Missense_Mutation_p.A580V|CPEB4_uc011dfg.2_Missense_Mutation_p.A572V|CPEB4_uc003mcu.4_Missense_Mutation_p.A190V|CPEB4_uc021yhy.1_Missense_Mutation_p.A163V	NM_030627	NP_085130	Q17RY0	CPEB4_HUMAN	Homo sapiens cytoplasmic polyadenylation element binding protein 4 (CPEB4), mRNA.	597	RRM 2.						RNA binding|nucleotide binding			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			GTGGAGCTTGCGATGATAATG	0.433000														141			20		0	0	1	0	0
TMEM189-UBE2V1	387522	broad.mit.edu	37	20	48760145	48760145	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:48760145C>A	uc002xvf.3	-	1	296	c.135G>T	c.(133-135)caG>caT	p.Q45H	TMEM189-UBE2V1_uc010zyq.1_Non-coding_Transcript|TMEM189-UBE2V1_uc002xvg.2_Missense_Mutation_p.Q45H|TMEM189-UBE2V1_uc010gif.2_Missense_Mutation_p.Q45H	NM_199203	NP_954673	A5PLL7	TM189_HUMAN	Homo sapiens TMEM189-UBE2V1 readthrough (TMEM189-UBE2V1), mRNA.	45						endoplasmic reticulum membrane|integral to membrane				breast(1)|endometrium(4)|large_intestine(6)|lung(6)	17			BRCA - Breast invasive adenocarcinoma(9;8.29e-07)			AGCACCACTCCTGGAGGCGCT	0.587000														17			10		5.16669e-11	6.28684e-11	1	1	0
CLCN1	1180	broad.mit.edu	37	7	143028657	143028657	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:143028657C>T	uc003wcr.1	+	9	1165	c.1078C>T	c.(1078-1080)Ctc>Ttc	p.L360F	CLCN1_uc011ktc.1_Missense_Mutation_p.L22F	NM_000083	NP_000074	P35523	CLCN1_HUMAN	Homo sapiens chloride channel 1, skeletal muscle (CLCN1), mRNA.	360					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					TTGCTGTGGGCTCCTGGGAGC	0.473000														34			55		0	0	1	0	0
RBM26	64062	broad.mit.edu	37	13	79911338	79911338	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:79911338G>T	uc001vkz.2	-	18	2652	c.2638C>A	c.(2638-2640)Cga>Aga	p.R880R	RBM26_uc001vky.2_Silent_p.R851R|RBM26_uc001vla.2_Silent_p.R854R|RBM26_uc001vkx.2_Silent_p.R590R|RBM26_uc010tia.2_Silent_p.R235R	NM_022118	NP_071401	Q5T8P6	RBM26_HUMAN	Homo sapiens RNA binding motif protein 26 (RBM26), mRNA.	878					mRNA processing		RNA binding|nucleotide binding|protein binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		GGCACACCTCGCCCTCGCCCT	0.562000														22			10		1.08611e-07	1.25606e-07	1	1	0
OR4K5	79317	broad.mit.edu	37	14	20389691	20389691	+	Missense_Mutation	SNP	G	A	A	rs140004714		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:20389691G>A	uc010tkw.2	+	0	926	c.926G>A	c.(925-927)aGg>aAg	p.R309K		NM_001005483	NP_001005483	Q8NGD3	OR4K5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 5 (OR4K5), mRNA.	309					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P308Q(1)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTGAGGCCAAGGAGAATTTCT	0.373000														98			31		0	0	1	0	0
BCKDK	10295	broad.mit.edu	37	16	31122664	31122664	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:31122664G>T	uc002eaw.4	+	9	1205	c.889G>T	c.(889-891)Gat>Tat	p.D297Y	BCKDK_uc002eav.4_Missense_Mutation_p.D297Y|BCKDK_uc010cai.3_Intron	NM_005881	NP_005872	O14874	BCKD_HUMAN	Homo sapiens branched chain ketoacid dehydrogenase kinase (BCKDK), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	297	Histidine kinase.				branched chain family amino acid catabolic process|peptidyl-histidine phosphorylation	mitochondrial alpha-ketoglutarate dehydrogenase complex	ATP binding|[3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)] kinase activity|protein binding|protein serine/threonine kinase activity|two-component sensor activity			breast(1)|stomach(1)	2						CAATGTCCCAGATGTGGTCAT	0.547000														41			15		8.34094e-07	9.49533e-07	1	1	0
C3P1	388503	broad.mit.edu	37	19	10169550	10169550	+	RNA	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10169550C>T	uc010dwx.2	+	17		c.2185C>T								Homo sapiens complement component 3 precursor pseudogene (C3P1), non-coding RNA.											endometrium(4)|large_intestine(2)|lung(6)|urinary_tract(1)	13						GACATTCAGACAACCTTTGCC	0.582000														48			13		0	0	1	0	0
FAM167B	84734	broad.mit.edu	37	1	32713256	32713256	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:32713256C>T	uc001buw.3	+	0	439	c.234C>T	c.(232-234)tcC>tcT	p.S78S		NM_032648	NP_116037	Q9BTA0	F167B_HUMAN	Homo sapiens family with sequence similarity 167, member B (FAM167B), mRNA.	78										endometrium(1)|large_intestine(1)|lung(1)|ovary(2)	5						CAATGGACTCCGCCCTTGAGT	0.652000														40			20		0	0	1	0	0
CHRNB4	1143	broad.mit.edu	37	15	78923638	78923638	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:78923638G>T	uc002bed.1	-	2	353	c.241C>A	c.(241-243)Ctg>Atg	p.L81M	CHRNB4_uc002bee.1_Missense_Mutation_p.L81M|CHRNB4_uc010blh.1_5'UTR	NM_000750	NP_000741	P30926	ACHB4_HUMAN	Homo sapiens cholinergic receptor, nicotinic, beta 4 (CHRNB4), mRNA.	81					regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			endometrium(7)|kidney(1)|lung(13)|prostate(1)	22						ACCTGTTTCAGCCAGACATTG	0.552000														39			32		4.65686e-17	5.91956e-17	1	1	0
GAS2L2	246176	broad.mit.edu	37	17	34072720	34072720	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:34072720G>A	uc002hjv.2	-	5	1824	c.1796C>T	c.(1795-1797)gCc>gTc	p.A599V		NM_139285	NP_644814	Q8NHY3	GA2L2_HUMAN	Homo sapiens growth arrest-specific 2 like 2 (GAS2L2), mRNA.	599					cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ACAGTAGATGGCTTGCTCCTT	0.597000														82			28		0	0	1	0	0
ZNF804B	219578	broad.mit.edu	37	7	88965809	88965809	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:88965809G>T	uc011khi.2	+	3	4051	c.3513G>T	c.(3511-3513)aaG>aaT	p.K1171N		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	Homo sapiens zinc finger protein 804B (ZNF804B), mRNA.	1171						intracellular	zinc ion binding	p.M1169_Q1170>I*(1)|p.Q1170*(1)		NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			ATATGCAGAAGCAACTCCTAT	0.468000										HNSCC(36;0.09)				76			6		5.9392e-07	6.7814e-07	1	1	0
MCC	4163	broad.mit.edu	37	5	112418619	112418619	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:112418619G>A	uc003kql.4	-	10	2138	c.1722C>T	c.(1720-1722)caC>caT	p.H574H	MCC_uc003kqj.4_Silent_p.H384H|MCC_uc003kqk.4_Non-coding_Transcript|MCC_uc011cwb.1_Silent_p.H384H|MCC_uc010jcd.1_Silent_p.H346H	NM_001085377	NP_001078846	P23508	CRCM_HUMAN	Homo sapiens mutated in colorectal cancers (MCC), transcript variant 1, mRNA.	384					Wnt receptor signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		TGGCAGATCCGTGTGAGTAGA	0.483000														55			32		0	0	1	0	0
LOC493754	493754	broad.mit.edu	37	7	66019804	66019804	+	RNA	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:66019804G>A	uc010lac.2	-	2		c.315C>T			LOC493754_uc010lad.3_Non-coding_Transcript|LOC493754_uc011kdx.2_Non-coding_Transcript|LOC493754_uc011kdy.1_Non-coding_Transcript|LOC493754_uc011kea.2_Non-coding_Transcript|LOC493754_uc003tvc.4_Non-coding_Transcript|LOC493754_uc011keb.2_Non-coding_Transcript					Homo sapiens RAB guanine nucleotide exchange factor (GEF) 1 pseudogene (LOC493754), non-coding RNA.																		CGAGGCACACGCCTGGAATCC	0.438000														21			9		0	0	1	0	0
JAKMIP2	9832	broad.mit.edu	37	5	146997622	146997622	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:146997622A>G	uc010jgo.1	-	17	2346	c.2198T>C	c.(2197-2199)aTc>aCc	p.I733T	JAKMIP2_uc003loq.1_Missense_Mutation_p.I733T|JAKMIP2_uc011dbx.1_Missense_Mutation_p.I691T|JAKMIP2_uc003lor.1_Missense_Mutation_p.I712T|LOC153469_uc003lop.1_Intron	NM_014790	NP_055605	Q96AA8	JKIP2_HUMAN	Homo sapiens janus kinase and microtubule interacting protein 2 (JAKMIP2), mRNA.	733						Golgi apparatus				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCAAACTTGATAACAGTTTC	0.408000														61			29		0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144943428	144943428	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:144943428A>C	uc003zaa.1	-	0	4007	c.3994T>G	c.(3994-3996)Tct>Gct	p.S1332A		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	1332						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GAGGCCCTAGAGTAGGGATCT	0.682000														34			27		0	0	1	0	0
RDBP	7936	broad.mit.edu	37	6	31922131	31922131	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31922131A>G	uc003nyk.3	-	7	1035	c.831T>C	c.(829-831)cgT>cgC	p.R277R	RDBP_uc011dot.2_Silent_p.R247R	NM_002904	NP_002895	P18615	NELFE_HUMAN	Homo sapiens RD RNA binding protein (RDBP), mRNA.	277	RRM.				positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	mitochondrion|nucleoplasm	RNA binding|nucleotide binding|protein binding			cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)	9						AGAAGGCCCCACGGAGAAGGG	0.517000														41			22		0	0	1	0	0
ERMN	57471	broad.mit.edu	37	2	158178124	158178124	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:158178124G>A	uc002tzi.3	-	3	708	c.553C>T	c.(553-555)Cat>Tat	p.H185Y	ERMN_uc010zcj.2_Missense_Mutation_p.H66Y|ERMN_uc002tzh.3_Missense_Mutation_p.H172Y|ERMN_uc010zck.2_Missense_Mutation_p.H152Y	NM_001009959	NP_065762	Q8TAM6	ERMIN_HUMAN	Homo sapiens ermin, ERM-like protein (ERMN), transcript variant 1, mRNA.	172						cytoplasm|cytoskeleton				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12						TGTTTAGAATGTAACATGTCA	0.398000														95			38		0	0	1	0	0
MARVELD2	153562	broad.mit.edu	37	5	68715761	68715761	+	Nonsense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:68715761C>A	uc003jwq.3	+	1	623	c.549C>A	c.(547-549)taC>taA	p.Y183*	MARVELD2_uc010ixf.3_Nonsense_Mutation_p.Y183*|MARVELD2_uc003jws.1_Non-coding_Transcript	NM_001038603	NP_001033692	Q8N4S9	MALD2_HUMAN	Homo sapiens MARVEL domain containing 2 (MARVELD2), transcript variant 1, mRNA.	183					sensory perception of sound	integral to membrane|tight junction				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(4)|skin(1)|urinary_tract(1)	15		Lung NSC(167;0.000937)|Prostate(74;0.0187)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;7.31e-57)|Epithelial(20;1.05e-52)|all cancers(19;2.63e-48)|Lung(70;0.0183)		ACCTGAGATACTCCTACATGA	0.517000														55			22		3.73194e-20	4.81397e-20	1	1	0
PDE4D	5144	broad.mit.edu	37	5	58270808	58270808	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:58270808G>A	uc003jsa.2	-	14	2285	c.2113C>T	c.(2113-2115)Cgt>Tgt	p.R705C	PDE4D_uc003jrx.2_Missense_Mutation_p.R569C|PDE4D_uc003jry.3_Missense_Mutation_p.R403C|PDE4D_uc003jrz.3_Missense_Mutation_p.R641C|PDE4D_uc003jsb.3_Missense_Mutation_p.R644C|PDE4D_uc003jrt.2_Missense_Mutation_p.R403C|PDE4D_uc003jru.3_Missense_Mutation_p.R481C|PDE4D_uc003jrv.2_Missense_Mutation_p.R575C|PDE4D_uc003jrw.2_Missense_Mutation_p.R583C|PDE4D_uc003jrs.2_Missense_Mutation_p.R414C	NM_001104631	NP_001098101	Q08499	PDE4D_HUMAN	Homo sapiens phosphodiesterase 4D, cAMP-specific (PDE4D), transcript variant 1, mRNA.	705					signal transduction	cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Dyphylline(DB00651)	TACCATTCACGATTGTCCTCC	0.537000														49			4		0	0	1	0	0
PHLPP2	23035	broad.mit.edu	37	16	71736512	71736512	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:71736512C>T	uc002fax.3	-	1	413	c.407G>A	c.(406-408)cGa>cAa	p.R136Q	PHLPP2_uc010cgf.3_Missense_Mutation_p.R136Q|PHLPP2_uc002fay.1_Missense_Mutation_p.R136Q	NM_015020	NP_055835	Q6ZVD8	PHLP2_HUMAN	Homo sapiens PH domain and leucine rich repeat protein phosphatase 2 (PHLPP2), mRNA.	136						cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						ACCATAAAATCGAATCATACA	0.403000														36			30		0	0	1	0	0
GRK5	2869	broad.mit.edu	37	10	121182770	121182770	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:121182770C>A	uc001led.3	+	4	665	c.432C>A	c.(430-432)gcC>gcA	p.A144A	GRK5_uc009xzh.3_Silent_p.A39A|GRK5_uc010qta.1_Silent_p.A39A	NM_005308	NP_005299	P34947	GRK5_HUMAN	Homo sapiens G protein-coupled receptor kinase 5 (GRK5), mRNA.	144	N-terminal.|RGS.				G-protein signaling, coupled to cAMP nucleotide second messenger|regulation of G-protein coupled receptor protein signaling pathway|tachykinin receptor signaling pathway	cytoplasm|plasma membrane|soluble fraction	ATP binding|G-protein coupled receptor kinase activity|phospholipid binding|protein kinase C binding|signal transducer activity			endometrium(2)|large_intestine(5)|lung(15)|skin(3)|stomach(1)|urinary_tract(1)	27		Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249)		all cancers(201;0.0227)		TCTTTTCTGCCTGTGCACAGT	0.582000														58			50		9.87224e-16	1.24634e-15	1	1	0
C15orf39	56905	broad.mit.edu	37	15	75498424	75498424	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:75498424C>A	uc002azp.4	+	1	355	c.35C>A	c.(34-36)cCt>cAt	p.P12H	C15orf39_uc002azq.4_Missense_Mutation_p.P12H|C15orf39_uc021sqm.1_5'Flank|C15orf39_uc002azr.4_5'Flank	NM_015492	NP_056307	Q6ZRI6	CO039_HUMAN	Homo sapiens chromosome 15 open reading frame 39 (C15orf39), mRNA.	12										autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						ACCCTGGGGCCTGTGATGTAT	0.602000														11			3		0.115264	0.116841	1	1	0
FAS	355	broad.mit.edu	37	10	90770572	90770572	+	Splice_Site	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:90770572G>T	uc001kfr.3	+	6	914	c.568_splice	c.e6+1	p.V190_splice	FAS_uc010qna.2_Splice_Site|FAS_uc001kft.3_Intron|FAS_uc010qnb.2_Splice_Site|FAS_uc001kfs.3_Splice_Site_p.V190_splice|FAS_uc010qnc.2_Intron|FAS_uc010qnd.2_Splice_Site|FAS_uc010qne.2_Intron|FAS_uc001kfw.3_Splice_Site|FAS_uc009xtp.3_Splice_Site	NM_000043	NP_000034	P25445	TNR6_HUMAN	Homo sapiens Fas (TNF receptor superfamily, member 6) (FAS), transcript variant 1, mRNA.	190					activation of caspase activity|activation of pro-apoptotic gene products|anti-apoptosis|cellular response to mechanical stimulus|positive regulation of necrotic cell death	cytosol|extracellular region|integral to membrane|soluble fraction	identical protein binding|kinase binding			breast(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0161)		Colorectal(12;0.000136)|COAD - Colon adenocarcinoma(12;0.000193)		AATTGTTTGGGGTAAGTTCTT	0.363000														181			14		0.000308642	0.000331285	1	1	0
YTHDC2	64848	broad.mit.edu	37	5	112926833	112926833	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:112926833G>T	uc003kqn.3	+	26	4123	c.3921G>T	c.(3919-3921)aaG>aaT	p.K1307N		NM_022828	NP_073739	Q9H6S0	YTDC2_HUMAN	Homo sapiens YTH domain containing 2 (YTHDC2), mRNA.	1307	YTH.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		CTCAACAGAAGGGTATCTGGT	0.403000														113			14		1.49906e-05	1.66078e-05	1	1	0
NOX1	27035	broad.mit.edu	37	X	100117425	100117425	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:100117425G>A	uc004egj.3	-	5	833	c.627C>T	c.(625-627)caC>caT	p.H209H	NOX1_uc004egl.4_Silent_p.H209H|NOX1_uc010nne.3_Silent_p.H172H	NM_007052	NP_008983	Q9Y5S8	NOX1_HUMAN	Homo sapiens NADPH oxidase 1 (NOX1), transcript variant NOH-1L, mRNA.	209	Ferric oxidoreductase.				FADH2 metabolic process|angiogenesis|cell migration|electron transport chain|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation	NADPH oxidase complex|cell junction|early endosome|invadopodium membrane	Rac GTPase binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity			cervix(1)|lung(3)|ovary(1)|skin(2)	7						AGATAAAAAGGTGGTGAGTAT	0.443000														168			105		0	0	1	0	0
TRAPPC5	126003	broad.mit.edu	37	19	7747355	7747355	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:7747355C>T	uc002mhi.1	+	1	286	c.216C>T	c.(214-216)cgC>cgT	p.R72R	TRAPPC5_uc002mhj.1_Silent_p.R72R|TRAPPC5_uc002mhk.1_Silent_p.R72R|TRAPPC5_uc021unw.1_Silent_p.R72R	NM_001042462	NP_777554	Q8IUR0	TPPC5_HUMAN	Homo sapiens trafficking protein particle complex 5 (TRAPPC5), transcript variant 3, mRNA.	72					vesicle-mediated transport	endoplasmic reticulum	guanylate cyclase activity|heme binding			NS(1)|lung(2)	3						TGGTGGCGCGCGAAAAGGGTG	0.711000														5			8		0	0	1	0	0
TMPRSS3	64699	broad.mit.edu	37	21	43808547	43808547	+	Silent	SNP	G	A	A	rs142784113		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:43808547G>A	uc002zbb.2	-	4	612	c.411C>T	c.(409-411)taC>taT	p.Y137Y	TMPRSS3_uc002zaz.2_Silent_p.Y10Y|TMPRSS3_uc002zba.2_Silent_p.Y10Y|TMPRSS3_uc002zbc.2_Silent_p.Y137Y|TMPRSS3_uc002zbd.3_Silent_p.Y137Y	NM_024022	NP_076927	P57727	TMPS3_HUMAN	Homo sapiens transmembrane protease, serine 3 (TMPRSS3), transcript variant A, mRNA.	137	SRCR.				cellular sodium ion homeostasis|proteolysis	endoplasmic reticulum membrane|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity|sodium channel regulator activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1)	13						CAACATTTGCGTAGTGACCCT	0.512000														81			47		0	0	1	0	0
ZNF160	90338	broad.mit.edu	37	19	53571786	53571786	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:53571786A>G	uc010eqk.3	-	6	2417	c.2001T>C	c.(1999-2001)caT>caC	p.H667H	ZNF160_uc002qaq.4_Silent_p.H667H|ZNF160_uc002qar.4_Silent_p.H667H	NM_001102603	NP_942596	Q9HCG1	ZN160_HUMAN	Homo sapiens zinc finger protein 160 (ZNF160), transcript variant 3, mRNA.	667					hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		GGATGACCTTATGGGTAGTTA	0.428000														121			13		0	0	1	0	0
MPP3	4356	broad.mit.edu	37	17	41903202	41903202	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:41903202G>A	uc002ieh.3	-	6	867	c.606C>T	c.(604-606)gtC>gtT	p.V202V	MPP3_uc002iei.4_Silent_p.V177V|MPP3_uc002iej.3_Non-coding_Transcript|MPP3_uc010czi.2_Silent_p.V177V|MPP3_uc010wik.2_Silent_p.V202V	NM_001932	NP_001923	Q13368	MPP3_HUMAN	Homo sapiens membrane protein, palmitoylated 3 (MAGUK p55 subfamily member 3) (MPP3), transcript variant 1, mRNA.	177	PDZ.				signal transduction	cell surface|integral to plasma membrane	guanylate kinase activity			endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Breast(137;0.00394)		BRCA - Breast invasive adenocarcinoma(366;0.119)		CTCCAACGTGGACCAGGCCTA	0.617000														31			4		0	0	1	0	0
CYB5R2	51700	broad.mit.edu	37	11	7687771	7687771	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:7687771T>G	uc001mfm.3	-	7	807	c.569A>C	c.(568-570)gAt>gCt	p.D190A	CYB5R2_uc001mfn.3_Non-coding_Transcript|CYB5R2_uc009yfk.3_Missense_Mutation_p.D190A	NM_016229	NP_057313	Q6BCY4	NB5R2_HUMAN	Homo sapiens cytochrome b5 reductase 2 (CYB5R2), mRNA.	190					sterol biosynthetic process	membrane|soluble fraction	cytochrome-b5 reductase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11				Epithelial(150;5.48e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GACCAAGATATCCTCCTCTGT	0.517000											OREG0020724	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		21			15		0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139788214	139788214	+	Nonsense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:139788214C>A	uc003yvd.3	-	15	2245	c.1798G>T	c.(1798-1800)Gaa>Taa	p.E600*		NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA.	600	Collagen-like 3.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			AATACCTTTTCTCCTCGAGTT	0.483000										HNSCC(7;0.00092)				62			26		9.39395e-14	1.17142e-13	1	1	0
WNT3A	89780	broad.mit.edu	37	1	228210547	228210547	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:228210547G>A	uc001hrp.2	+	1	358	c.251G>A	c.(250-252)cGc>cAc	p.R84H	WNT3A_uc001hrq.2_Missense_Mutation_p.R84H	NM_033131	NP_149122	P56704	WNT3A_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 3A (WNT3A), mRNA.	84					Wnt receptor signaling pathway involved in forebrain neuroblast division|Wnt receptor signaling pathway, calcium modulating pathway|axis specification|cell proliferation in forebrain|cell-cell signaling|cellular response to retinoic acid|convergent extension|dermatome development|dorsal/ventral neural tube patterning|embryonic pattern specification|extracellular matrix organization|hemopoietic stem cell proliferation|hippocampus development|inner ear morphogenesis|mammary gland development|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of neuron projection development|notochord development|palate development|paraxial mesodermal cell fate commitment|positive regulation of catenin import into nucleus|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of receptor internalization|positive regulation of transcription from RNA polymerase II promoter|signalosome assembly|tail morphogenesis	cell surface|early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled-2 binding|receptor agonist activity|signal transducer activity|transcription coactivator activity			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12		Prostate(94;0.0405)				TTCCGCGGCCGCCGGTGGAAC	0.637000														32			30		0	0	1	0	0
ZNF596	169270	broad.mit.edu	37	8	195916	195916	+	Missense_Mutation	SNP	C	T	T	rs137958651		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:195916C>T	uc003wot.3	+	5	1357	c.1069C>T	c.(1069-1071)Cac>Tac	p.H357Y	ZNF596_uc003wou.3_Missense_Mutation_p.H256Y|ZNF596_uc003wov.3_Missense_Mutation_p.H357Y|ZNF596_uc003wow.3_Missense_Mutation_p.H357Y	NM_173539	NP_775810	Q8TC21	ZN596_HUMAN	Homo sapiens zinc finger protein 596 (ZNF596), transcript variant 3, mRNA.	357					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(5)	14		all_cancers(2;4.81e-29)|all_epithelial(2;5.03e-19)|Lung NSC(2;8.68e-08)|all_lung(2;1.52e-07)|Ovarian(12;0.00965)|Colorectal(14;0.0367)|all_neural(12;0.0837)|Myeloproliferative disorder(644;0.116)|all_hematologic(2;0.138)|Acute lymphoblastic leukemia(644;0.242)		Epithelial(5;3.77e-18)|all cancers(2;5.2e-17)|OV - Ovarian serous cystadenocarcinoma(5;5.37e-09)|BRCA - Breast invasive adenocarcinoma(11;1.7e-06)|Colorectal(2;6.51e-05)|READ - Rectum adenocarcinoma(2;0.0276)|COAD - Colon adenocarcinoma(149;0.0702)		TGAGCGAAGTCACAATGGAGA	0.408000														35			15		0	0	1	0	0
ALPK2	115701	broad.mit.edu	37	18	56196431	56196431	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:56196431G>T	uc002lhj.4	-	5	5607	c.5393C>A	c.(5392-5394)cCt>cAt	p.P1798H	ALPK2_uc002lhk.1_Missense_Mutation_p.P1129H	NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	Homo sapiens alpha-kinase 2 (ALPK2), mRNA.	1798	Ig-like 2.						ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						AGAGTGTTCAGGGAACATCTC	0.363000														53			35		2.09667e-21	2.71394e-21	1	1	0
LCP1	3936	broad.mit.edu	37	13	46730704	46730704	+	Splice_Site	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:46730704C>A	uc001vaz.4	-	5	485	c.359_splice	c.e5-1	p.E120_splice	LCP1_uc001vba.4_Splice_Site_p.E120_splice	NM_002298	NP_002289	P13796	PLSL_HUMAN	Homo sapiens lymphocyte cytosolic protein 1 (L-plastin) (LCP1), mRNA.	120	Actin-binding 1.|CH 1.				T cell activation involved in immune response|regulation of intracellular protein transport	cell junction|cytosol|ruffle membrane	calcium ion binding			breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		ACTTTTCTTCCTCTGCAAGTA	0.373000			T	BCL6	NHL									136			11		5.50884e-06	6.15991e-06	1	1	0
AHNAK	79026	broad.mit.edu	37	11	62300220	62300220	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:62300220G>T	uc001ntl.3	-	4	1969	c.1669C>A	c.(1669-1671)Ctt>Att	p.L557I	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	557					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GGACTGCCAAGCCTAGGGCCT	0.512000														93			56		1.0442e-30	1.3785e-30	1	1	0
POLR1A	25885	broad.mit.edu	37	2	86297353	86297353	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:86297353G>A	uc002sqs.3	-	12	2033	c.1654C>T	c.(1654-1656)Cga>Tga	p.R552*		NM_015425	NP_056240	O95602	RPA1_HUMAN	Homo sapiens polymerase (RNA) I polypeptide A, 194kDa (POLR1A), mRNA.	552					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						GTGGGCTGTCGGTTCAGTAGC	0.582000														21			13		0	0	1	0	0
LLGL2	3993	broad.mit.edu	37	17	73569667	73569667	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:73569667G>A	uc002joh.3	+	20	2985	c.2831G>A	c.(2830-2832)cGc>cAc	p.R944H	LLGL2_uc002joi.3_Missense_Mutation_p.R944H|LLGL2_uc010dgg.2_Missense_Mutation_p.R944H|LLGL2_uc002joj.3_Missense_Mutation_p.R933H|LLGL2_uc010wsd.2_Missense_Mutation_p.R571H	NM_001031803	NP_001026973	Q6P1M3	L2GL2_HUMAN	Homo sapiens lethal giant larvae homolog 2 (Drosophila) (LLGL2), transcript variant 3, mRNA.	944					cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding	p.R944C(1)		NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			AAGAACCACCGCCCTGGTAAC	0.652000														31			21		0	0	1	0	0
CAMTA1	23261	broad.mit.edu	37	1	7700541	7700541	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:7700541T>C	uc001aoi.3	+	6	799	c.592T>C	c.(592-594)Tcc>Ccc	p.S198P		NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN	Homo sapiens calmodulin binding transcription activator 1 (CAMTA1), transcript variant 1, mRNA.	198					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		CATCCTCTGCTCCATCAACAC	0.622000			T	WWTR1	epitheliod hemangioendothelioma									29			24		0	0	1	0	0
ANKRD13A	88455	broad.mit.edu	37	12	110461861	110461861	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:110461861G>A	uc001tpx.3	+	6	1004	c.745G>A	c.(745-747)Gga>Aga	p.G249R	ANKRD13A_uc009zvl.1_Intron|ANKRD13A_uc010sxw.2_Missense_Mutation_p.G249R|ANKRD13A_uc001tpy.3_5'Flank	NM_033121	NP_149112	Q8IZ07	AN13A_HUMAN	Homo sapiens ankyrin repeat domain 13A (ANKRD13A), mRNA.	249										endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(8)|lung(3)|urinary_tract(1)	16						AACTAAATCCGGATTCTGGGG	0.348000														216			20		0	0	1	0	0
LDB1	8861	broad.mit.edu	37	10	103870645	103870645	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:103870645C>T	uc009xwz.3	-	4	676	c.333G>A	c.(331-333)gaG>gaA	p.E111E	LDB1_uc001kuk.4_Silent_p.E75E|LDB1_uc001kul.3_Silent_p.E75E	NM_001113407	NP_003884	Q86U70	LDB1_HUMAN	Homo sapiens LIM domain binding 1 (LDB1), transcript variant 1, mRNA.	111					histone H3-K4 acetylation|negative regulation of erythrocyte differentiation|negative regulation of transcription, DNA-dependent|positive regulation of hemoglobin biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription elongation, DNA-dependent|transcription, DNA-dependent|transcription-dependent tethering of RNA polymerase II gene DNA at nuclear periphery	nuclear chromatin|protein complex	LIM domain binding|protein homodimerization activity|transcription corepressor activity			breast(1)|central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)	21		Colorectal(252;0.122)		Epithelial(162;1.11e-07)|all cancers(201;1.82e-06)		TTGGTCCATCCTCCAGGCAGA	0.498000														48			30		0	0	1	0	0
LRRN1	57633	broad.mit.edu	37	3	3888474	3888474	+	Nonstop_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:3888474T>C	uc003bpt.4	+	1	2910	c.2149T>C	c.(2149-2151)Taa>Caa	p.*717Q	SUMF1_uc003bps.2_Intron|LRRN1_uc021wsh.1_Nonstop_Mutation_p.*717Q	NM_020873	NP_065924	Q6UXK5	LRRN1_HUMAN	Homo sapiens leucine rich repeat neuronal 1 (LRRN1), mRNA.	0						integral to membrane				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		TTACATGTGGTAACTCAGAGG	0.413000														12			10		0	0	1	0	0
CD40	958	broad.mit.edu	37	20	44746989	44746989	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:44746989C>T	uc002xrg.1	+	0	84	c.7C>T	c.(7-9)Cgt>Tgt	p.R3C	CD40_uc002xrf.1_Missense_Mutation_p.R3C|CD40_uc002xrh.1_Missense_Mutation_p.R3C|CD40_uc002xrj.1_Non-coding_Transcript|CD40_uc002xrk.1_Non-coding_Transcript	NM_001250	NP_001241	P25942	TNR5_HUMAN	Homo sapiens CD40 molecule, TNF receptor superfamily member 5 (CD40), transcript variant 1, mRNA.	3					B cell proliferation|cellular response to mechanical stimulus|inflammatory response|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of endothelial cell apoptosis|protein complex assembly	CD40 receptor complex|extracellular region	enzyme binding|receptor activity			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10		Myeloproliferative disorder(115;0.0122)			Simvastatin(DB00641)	CGCTATGGTTCGTCTGCCTCT	0.652000									Immune Deficiency with Hyper-IgM					15			13		0	0	1	0	0
LRRC4B	94030	broad.mit.edu	37	19	51022514	51022514	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:51022514C>A	uc002pss.3	-	2	593	c.456G>T	c.(454-456)caG>caT	p.Q152H		NM_001080457	NP_001073926	Q9NT99	LRC4B_HUMAN	Homo sapiens leucine rich repeat containing 4B (LRRC4B), mRNA.	152						cell junction|integral to membrane|presynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		ACTCGAAGGCCTGCGTGGGCA	0.647000														45			22		1.10513e-12	1.3661e-12	1	1	0
MUC16	94025	broad.mit.edu	37	19	9074008	9074008	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9074008C>T	uc002mkp.3	-	2	13642	c.13438G>A	c.(13438-13440)Gtt>Att	p.V4480I		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	4482	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						GTCGCAGAAACAGGAGAGGAT	0.468000														76			10		0	0	1	0	0
GALNTL4	374378	broad.mit.edu	37	11	11642982	11642982	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:11642982C>A	uc001mjo.2	-	0	580	c.159G>T	c.(157-159)gaG>gaT	p.E53D		NM_198516	NP_940918	Q6P9A2	GLTL4_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 4 (GALNTL4), mRNA.	53						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26				all cancers(16;3.67e-05)|Epithelial(150;0.000184)		CTTTGTCTTCCTCCAGCTTCT	0.577000														84			6		5.18039e-06	5.80246e-06	1	1	0
SORCS3	22986	broad.mit.edu	37	10	106937890	106937890	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:106937890C>T	uc001kyi.1	+	13	2195	c.1968C>T	c.(1966-1968)gaC>gaT	p.D656D	SORCS3_uc010qqz.1_Intron	NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA.	656						integral to membrane	neuropeptide receptor activity	p.D656D(2)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		TCTTTGTTGACGGGGCTCTGG	0.473000														21			14		0	0	1	0	0
ZNF324B	388569	broad.mit.edu	37	19	58965153	58965153	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58965153G>A	uc002qsv.1	+	1	192	c.85G>A	c.(85-87)Gtg>Atg	p.V29M	ZNF324B_uc002qsu.1_5'UTR|ZNF324B_uc010euq.1_Missense_Mutation_p.V29M	NM_207395	NP_997278	Q6AW86	Z324B_HUMAN	Homo sapiens zinc finger protein 324B (ZNF324B), mRNA.	29	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		GTACCGCCACGTGATGCTGGA	0.562000														29			15		0	0	1	0	0
USP15	9958	broad.mit.edu	37	12	62688032	62688032	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:62688032G>T	uc001src.2	+	1	237	c.162G>T	c.(160-162)caG>caT	p.Q54H	USP15_uc001srb.2_Missense_Mutation_p.Q54H|USP15_uc010ssj.2_Missense_Mutation_p.Q54H|USP15_uc010ssk.2_Missense_Mutation_p.Q54H|USP15_uc001sra.3_Missense_Mutation_p.Q54H	NM_001252078	NP_001239007	Q9Y4E8	UBP15_HUMAN	Homo sapiens ubiquitin specific peptidase 15 (USP15), transcript variant 1, mRNA.	54	DUSP.				protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		ACAAATACCAGATGGGAGATC	0.358000														61			7		0.000274275	0.000294507	1	1	0
BCL6	604	broad.mit.edu	37	3	187447458	187447458	+	Silent	SNP	C	T	T	rs2228258	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:187447458C>T	uc003frp.3	-	4	1192	c.735G>A	c.(733-735)ccG>ccA	p.P245P	LOC100131635_uc021xio.1_Intron|BCL6_uc011bsf.1_Silent_p.P245P|BCL6_uc010hza.2_Silent_p.P143P|BCL6_uc003frq.2_Silent_p.P245P	NM_001130845	NP_001697	P41182	BCL6_HUMAN	Homo sapiens B-cell CLL/lymphoma 6 (BCL6), transcript variant 2, mRNA.	245					negative regulation of B cell apoptosis|negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R244R(1)|p.P245L(1)|p.R244L(1)		central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		CCTCCAAAGTCGGCCGGCTGT	0.567000			"""T, Mis"""	"""IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"""	"""NHL, CLL"""									17			8		0	0	1	0	0
PCNT	5116	broad.mit.edu	37	21	47819616	47819616	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:47819616G>A	uc002zji.4	+	24	4804	c.4697G>A	c.(4696-4698)cGt>cAt	p.R1566H	PCNT_uc002zjj.3_Missense_Mutation_p.R1448H	NM_006031	NP_006022	O95613	PCNT_HUMAN	Homo sapiens pericentrin (PCNT), mRNA.	1566					G2/M transition of mitotic cell cycle|cilium assembly	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					GAAATTAAACGTCTGGAGGAG	0.398000														54			39		0	0	1	0	0
HTR3C	170572	broad.mit.edu	37	3	183774687	183774687	+	Silent	SNP	C	T	T	rs140566773	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:183774687C>T	uc003fmk.3	+	4	448	c.414C>T	c.(412-414)tcC>tcT	p.S138S		NM_130770	NP_570126	Q8WXA8	5HT3C_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3, family member C (HTR3C), mRNA.	138						integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			AGACGCCTTCCGGTCTCACTG	0.507000														112			7		0	0	1	0	0
IFIT1B	439996	broad.mit.edu	37	10	91144325	91144325	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:91144325C>A	uc001kgh.3	+	1	1335	c.1255C>A	c.(1255-1257)Ctc>Atc	p.L419I	LIPA_uc001kgb.4_Intron|LIPA_uc001kgc.4_Intron	NM_001010987	NP_001010987	Q5T764	IFT1B_HUMAN	Homo sapiens interferon-induced protein with tetratricopeptide repeats 1B (IFIT1B), mRNA.	419							binding			endometrium(2)|large_intestine(3)|lung(8)	13						GGAAAAACTTCTCAATGCTTT	0.373000														128			13		7.93312e-07	9.03407e-07	1	1	0
ACR	49	broad.mit.edu	37	22	51182575	51182575	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:51182575C>T	uc003bnh.4	+	3	664	c.652C>T	c.(652-654)Cgc>Tgc	p.R218C		NM_001097	NP_001088	P10323	ACRO_HUMAN	Homo sapiens acrosin (ACR), mRNA.	218	Peptidase S1.				acrosome matrix dispersal|activation of adenylate cyclase activity	acrosomal matrix|protein complex	DNA binding|amidase activity|copper ion binding|drug binding|fucose binding|mannose binding|protein binding|serine-type endopeptidase activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	7		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;1.1e-06)|LUAD - Lung adenocarcinoma(64;0.247)		GTACAATGGGCGCGTTCAGCC	0.572000														94			6		0	0	1	0	0
PCSK4	54760	broad.mit.edu	37	19	1486973	1486973	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:1486973C>A	uc002ltb.1	-	7	1009	c.947G>T	c.(946-948)aGc>aTc	p.S316I	PCSK4_uc002lta.2_Missense_Mutation_p.S128I	NM_017573	NP_060043	Q6UW60	PCSK4_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 4 (PCSK4), mRNA.	316	Catalytic (By similarity).				proteolysis	integral to membrane	serine-type endopeptidase activity			cervix(2)|endometrium(2)|kidney(1)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGTGTGGATGCTGTTGGTGTA	0.682000														60			6		0.0293803	0.0299714	1	1	0
EVC	2121	broad.mit.edu	37	4	5811321	5811321	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:5811321C>T	uc003gil.1	+	18	2949	c.2765C>T	c.(2764-2766)gCt>gTt	p.A922V	EVC_uc003gim.1_Non-coding_Transcript	NM_153717	NP_714928	P57679	EVC_HUMAN	Homo sapiens Ellis van Creveld syndrome (EVC), mRNA.	922					muscle organ development	integral to membrane				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				CTGTTGCCTGCTAAGCGTGGG	0.542000														20			12		0	0	1	0	0
OR10Q1	219960	broad.mit.edu	37	11	57996345	57996345	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:57996345C>T	uc010rkd.2	-	0	46	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_001004471	NP_001004471	Q8NGQ4	O10Q1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily Q, member 1 (OR10Q1), mRNA.	1					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35		Breast(21;0.0589)				TCCCCACAGGCATGTCTTATG	0.478000														103			17		0	0	1	0	0
FKBP10	60681	broad.mit.edu	37	17	39973393	39973393	+	Missense_Mutation	SNP	G	A	A	rs137853882		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:39973393G>A	uc002hxv.2	+	1	654	c.329G>A	c.(328-330)tGt>tAt	p.C110Y	FKBP10_uc002hxw.1_5'Flank	NM_021939	NP_068758	Q96AY3	FKB10_HUMAN	Homo sapiens FK506 binding protein 10, 65 kDa (FKBP10), mRNA.	110	PPIase FKBP-type 1.		Missing (in OI6).		protein folding	endoplasmic reticulum lumen|membrane	FK506 binding|calcium ion binding|peptidyl-prolyl cis-trans isomerase activity			cervix(1)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(137;0.00122)		BRCA - Breast invasive adenocarcinoma(366;0.148)		ATGGGCATGTGTGTCAACGAG	0.662000														51			25		0	0	1	0	0
FZD4	8322	broad.mit.edu	37	11	86663407	86663407	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:86663407C>T	uc001pce.3	-	1	704	c.391G>A	c.(391-393)Gtc>Atc	p.V131I	PRSS23_uc001pcc.1_Non-coding_Transcript	NM_012193	NP_036325	Q9ULV1	FZD4_HUMAN	Homo sapiens frizzled family receptor 4 (FZD4), mRNA.	131	FZ.				Wnt receptor signaling pathway, calcium modulating pathway|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|negative regulation of cell-substrate adhesion|neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|progesterone secretion|regulation of vascular endothelial growth factor receptor signaling pathway|substrate adhesion-dependent cell spreading|vasculogenesis	cell projection|cell surface|cytoplasm	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding|cytokine binding|protein heterodimerization activity|protein homodimerization activity	p.P130P(1)		breast(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(6)|skin(1)	21		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TCCTTCAGGACGGGTTCACAG	0.517000														148			15		0	0	1	0	0
WDR81	124997	broad.mit.edu	37	17	1634379	1634379	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:1634379C>A	uc002ftj.2	+	3	4113	c.3984C>A	c.(3982-3984)gcC>gcA	p.A1328A	WDR81_uc002fth.2_Silent_p.A277A|WDR81_uc010vqp.1_Silent_p.A125A|WDR81_uc002fti.2_Silent_p.A101A|WDR81_uc010vqq.1_Intron	NM_001163809	NP_001157281	B3KXU1	B3KXU1_HUMAN	Homo sapiens WD repeat domain 81 (WDR81), transcript variant 1, mRNA.	101										cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CAGGGAGTGCCTCAGGCCCCA	0.677000														19			6		0.00198382	0.00208369	1	1	0
PLCE1	51196	broad.mit.edu	37	10	96005763	96005763	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:96005763C>T	uc001kjk.3	+	7	3115	c.2481C>T	c.(2479-2481)taC>taT	p.Y827Y	PLCE1_uc010qnx.2_Silent_p.Y827Y|PLCE1_uc001kjm.3_Silent_p.Y519Y	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	Homo sapiens phospholipase C, epsilon 1 (PLCE1), transcript variant 1, mRNA.	827					Ras protein signal transduction|activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of cell growth|regulation of smooth muscle contraction	Golgi membrane|cytosol|membrane fraction|plasma membrane	Ras GTPase binding|calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				CCAAAGAATACGACTCTCATG	0.443000														53			27		0	0	1	0	0
C9orf3	84909	broad.mit.edu	37	9	97563235	97563235	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:97563235C>T	uc004ava.3	+	3	1450	c.1315C>T	c.(1315-1317)Ctg>Ttg	p.L439L	C9orf3_uc004aux.2_Silent_p.L439L|C9orf3_uc004auy.3_Silent_p.L439L|C9orf3_uc004auz.1_Silent_p.L439L	NM_001193329	NP_001180258	Q8N6M6	AMPO_HUMAN	Homo sapiens chromosome 9 open reading frame 3 (C9orf3), transcript variant 1, mRNA.	439					leukotriene biosynthetic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|zinc ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(323;0.000275)		GTTCTCTCGGCTGGATGTTCT	0.537000														110			11		0	0	1	0	0
ANAPC2	29882	broad.mit.edu	37	9	140074825	140074825	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:140074825G>A	uc004clr.1	-	9	1771	c.1698C>T	c.(1696-1698)gaC>gaT	p.D566D	ANAPC2_uc004clq.1_Silent_p.D422D	NM_013366	NP_037498	Q9UJX6	ANC2_HUMAN	Homo sapiens anaphase promoting complex subunit 2 (ANAPC2), mRNA.	566					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of cyclin-dependent protein kinase activity	anaphase-promoting complex|cytosol|nucleoplasm	ubiquitin protein ligase binding|ubiquitin-protein ligase activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)		TGCGGCGGGAGTCCGCCATGT	0.667000														26			13		0	0	1	0	0
ARHGAP11A	9824	broad.mit.edu	37	15	32917784	32917784	+	Missense_Mutation	SNP	A	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:32917784A>T	uc001zgy.1	+	5	1534	c.812A>T	c.(811-813)gAa>gTa	p.E271V	ARHGAP11A_uc010ubw.1_Missense_Mutation_p.E82V|ARHGAP11A_uc001zgw.3_Missense_Mutation_p.E271V|ARHGAP11A_uc010ubx.1_Missense_Mutation_p.E82V	NM_014783	NP_055598	Q6P4F7	RHGBA_HUMAN	Homo sapiens Rho GTPase activating protein 11A (ARHGAP11A), transcript variant 1, mRNA.	271					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		all_lung(180;1.3e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)		GAAGAAGGTGAATATGAAACT	0.423000														140			13		0	0	1	0	0
USP28	57646	broad.mit.edu	37	11	113698033	113698033	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:113698033A>G	uc001poh.3	-	10	1142	c.1109T>C	c.(1108-1110)tTt>tCt	p.F370S	USP28_uc001pog.3_Missense_Mutation_p.F78S|USP28_uc010rwy.2_Missense_Mutation_p.F245S|USP28_uc001poi.3_5'UTR|USP28_uc001poj.3_Missense_Mutation_p.F370S	NM_020886	NP_065937	Q96RU2	UBP28_HUMAN	Homo sapiens ubiquitin specific peptidase 28 (USP28), mRNA.	370					DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|cell proliferation|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.R369I(1)		breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		ATTAAACTCAAATCTTGAGAG	0.363000														33			28		0	0	1	0	0
TCRA	0	broad.mit.edu	37	14	22616465	22616465	+	Missense_Mutation	SNP	C	T	T	rs34071112		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:22616465C>T	uc010ajk.2	+	1	292	c.206C>T	c.(205-207)aCg>aTg	p.T69M	TCRA_uc001wbw.2_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Intron|TCRA_uc001wco.3_Intron|TCRA_uc010aje.1_Intron|TCRA_uc001wcp.2_Intron|TCRA_uc001wcr.1_Intron|TCRA_uc001wcs.1_Intron|TCRA_uc010ajf.1_Intron|TCRA_uc001wcu.4_Intron|TCRA_uc021rpn.1_Intron|TCRA_uc001wcx.4_Intron|TCRA_uc021rpr.1_Intron|TCRA_uc001wdd.2_Intron|TCRA_uc010ajj.1_Intron|TCRA_uc001wde.1_Intron|TCRA_uc001wdg.1_5'UTR|TCRA_uc021rpt.1_5'UTR					SubName: Full=TRA@ protein;																		ACAGTAGTTACGGGTGGAGAA	0.488000														29			16		0	0	1	0	0
WDR3	10885	broad.mit.edu	37	1	118501575	118501575	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:118501575A>G	uc010oxe.1	+	25	2691	c.2625A>G	c.(2623-2625)ccA>ccG	p.P875P	WDR3_uc001ehi.2_Intron|SPAG17_uc001ehk.2_Intron	NM_006784	NP_006775	Q9UNX4	WDR3_HUMAN	Homo sapiens WD repeat domain 3 (WDR3), mRNA.	875						nuclear membrane|nucleolus				breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		TGCTTGTGCCAGTGATAGAAA	0.388000														43			26		0	0	1	0	0
PCDHB4	56131	broad.mit.edu	37	5	140503114	140503114	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140503114C>A	uc003lip.1	+	0	1534	c.1534C>A	c.(1534-1536)Ctg>Atg	p.L512M		NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	Homo sapiens protocadherin beta 4 (PCDHB4), mRNA.	512	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAACGGCCACCTGTTCGCCCT	0.692000														53			23		9.73076e-26	1.27472e-25	1	1	0
C5	727	broad.mit.edu	37	9	123794416	123794416	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:123794416G>A	uc004bkv.3	-	5	672	c.642C>T	c.(640-642)acC>acT	p.T214T	C5_uc010mvm.1_Silent_p.T214T|C5_uc010mvn.1_Silent_p.T214T	NM_001735	NP_001726	P01031	CO5_HUMAN	Homo sapiens complement component 5 (C5), mRNA.	214					G-protein coupled receptor protein signaling pathway|activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	CAAAATATGCGGTTCCAGTTG	0.323000														30			19		0	0	1	0	0
SARDH	1757	broad.mit.edu	37	9	136531992	136531992	+	Splice_Site	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:136531992G>A	uc004cep.4	-	20	2630	c.2496_splice	c.e20-1	p.D832_splice	SARDH_uc004ceo.3_Splice_Site_p.D832_splice|SARDH_uc011mdo.2_Splice_Site_p.D664_splice|SARDH_uc011mdn.2_Splice_Site_p.D832_splice|SARDH_uc004cen.3_Silent_p.S282S	NM_001134707	NP_009032	Q9UL12	SARDH_HUMAN	Homo sapiens sarcosine dehydrogenase (SARDH), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	832					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		TGGGTACTTTGCTGGAAGAAG	0.617000														4			4		0	0	1	0	0
POM121	9883	broad.mit.edu	37	7	72412550	72412550	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:72412550C>T	uc003twk.2	+	10	2018	c.2018C>T	c.(2017-2019)gCc>gTc	p.A673V	POM121_uc003twj.3_Missense_Mutation_p.A408V|POM121_uc010lam.1_Missense_Mutation_p.A408V	NM_172020	NP_742017	Q96HA1	P121A_HUMAN	Homo sapiens POM121 membrane glycoprotein (POM121), mRNA.	673	Pore side (Potential).				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				ATGGTACCAGCCACTGACACC	0.627000														81			7		0	0	1	0	0
PSMC3IP	29893	broad.mit.edu	37	17	40725521	40725521	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:40725521T>C	uc002iai.2	-	4	501	c.458A>G	c.(457-459)cAt>cGt	p.H153R	PSMC3IP_uc002iaj.3_Missense_Mutation_p.H90R|PSMC3IP_uc010wgp.1_Non-coding_Transcript|PSMC3IP_uc002iak.2_Missense_Mutation_p.H141R|PSMC3IP_uc010wgn.1_Missense_Mutation_p.H74R|PSMC3IP_uc010wgo.1_Non-coding_Transcript	NM_016556	NP_057640	Q9P2W1	HOP2_HUMAN	Homo sapiens PSMC3 interacting protein (PSMC3IP), transcript variant 2, mRNA.	153	DNA binding (By similarity).				DNA recombination|meiosis	nucleus	DNA binding			endometrium(2)|large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(2)	7		all_cancers(22;0.00426)|Breast(137;0.00116)|all_epithelial(22;0.0395)		BRCA - Breast invasive adenocarcinoma(366;0.13)		TGGAGTCACATGATTGGTAGC	0.522000														195			25		0	0	1	0	0
UTRN	7402	broad.mit.edu	37	6	145142120	145142120	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:145142120G>A	uc003qkt.3	+	64	9552	c.9460G>A	c.(9460-9462)Gtc>Atc	p.V3154I		NM_007124	NP_009055	P46939	UTRO_HUMAN	Homo sapiens utrophin (UTRN), mRNA.	3154	Interaction with SYNM.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		TTACCTGCCTGTCCAGACAGT	0.373000														62			11		0	0	1	0	0
CHCHD5	84269	broad.mit.edu	37	2	113343849	113343849	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:113343849C>T	uc002tia.2	+	2	405	c.216C>T	c.(214-216)aaC>aaT	p.N72N	CHCHD5_uc002thz.1_Silent_p.N72N			Q9BSY4	CHCH5_HUMAN	Homo sapiens coiled-coil-helix-coiled-coil-helix domain containing 5 (CHCHD5), mRNA.	72	CHCH.									NS(1)|endometrium(1)|large_intestine(4)|urinary_tract(1)	7						TTCGACAGAACGAGGCAGCTG	0.622000														31			22		0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	137814073	137814073	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:137814073A>G	uc002tva.1	+	1	130	c.130A>G	c.(130-132)Aca>Gca	p.T44A	THSD7B_uc010zbj.1_Non-coding_Transcript|THSD7B_uc002tvb.3_5'UTR	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		TGACGGGTGGACAAGTCACCT	0.532000														26			18		0	0	1	0	0
PRDM10	56980	broad.mit.edu	37	11	129827806	129827806	+	Splice_Site	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:129827806C>A	uc001qfm.3	-	3	302	c.70_splice	c.e3-1	p.V24_splice	PRDM10_uc001qfn.3_Splice_Site_p.V24_splice|PRDM10_uc009zct.1_Splice_Site_p.V24_splice	NM_020228	NP_064613	Q9NQV6	PRD10_HUMAN	Homo sapiens PR domain containing 10 (PRDM10), transcript variant 1, mRNA.	24					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		CAAAGTGCACCTGGCATAAAC	0.498000														138			27		2.79863e-10	3.37315e-10	1	1	0
TREH	11181	broad.mit.edu	37	11	118529667	118529667	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:118529667A>G	uc001pty.1	-	12	1537	c.1492T>C	c.(1492-1494)Tgg>Cgg	p.W498R	TREH_uc009zaj.1_Missense_Mutation_p.W467R|TREH_uc001ptz.1_Missense_Mutation_p.W375R	NM_007180	NP_009111	O43280	TREA_HUMAN	Homo sapiens trehalase (brush-border membrane glycoprotein) (TREH), mRNA.	498					polysaccharide digestion|trehalose catabolic process	anchored to plasma membrane	alpha,alpha-trehalase activity			NS(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(1)	13	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.16e-05)		GTTCGGATCCAATTCTGAGCC	0.592000											OREG0021385	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		102			67		0	0	1	0	0
IVL	3713	broad.mit.edu	37	1	152883903	152883903	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:152883903G>A	uc021ozl.1	+	0	1630	c.1630G>A	c.(1630-1632)Gtg>Atg	p.V544M	IVL_uc001fau.3_Missense_Mutation_p.V544M	NM_005547	NP_005538	P07476	INVO_HUMAN	Homo sapiens involucrin (IVL), mRNA.	544					isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			ggagcagcCTGTGTTTGCCCC	0.587000														33			4		0	0	1	0	0
CLDN4	1364	broad.mit.edu	37	7	73245993	73245993	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:73245993C>T	uc003tzi.4	+	0	801	c.462C>T	c.(460-462)tcC>tcT	p.S154S	CLDN4_uc003tzh.1_Non-coding_Transcript	NM_001305	NP_001296	O14493	CLD4_HUMAN	Homo sapiens claudin 4 (CLDN4), mRNA.	154					calcium-independent cell-cell adhesion	integral to plasma membrane|tight junction	identical protein binding|structural molecule activity|transmembrane receptor activity			kidney(2)|lung(4)|urinary_tract(1)	7		Lung NSC(55;0.159)				TGGTGGCCTCCGGGCAGAAGC	0.657000														21			32		0	0	1	0	0
CADPS	8618	broad.mit.edu	37	3	62385182	62385182	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:62385182G>A	uc003dll.2	-	29	4321	c.3961C>T	c.(3961-3963)Cgt>Tgt	p.R1321C	CADPS_uc003dlj.1_Missense_Mutation_p.R276C|CADPS_uc003dlk.1_Missense_Mutation_p.R769C|CADPS_uc003dlm.2_Missense_Mutation_p.R1282C|CADPS_uc003dln.2_Missense_Mutation_p.R1242C|CADPS_uc021wzv.1_Missense_Mutation_p.R1312C	NM_003716	NP_003707	Q9ULU8	CAPS1_HUMAN	Homo sapiens Ca++-dependent secretion activator (CADPS), transcript variant 1, mRNA.	1321	Mediates targeting and association with DCVs (By similarity).				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		ACAGTGAGACGGTTCCGGATC	0.498000														71			42		0	0	1	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21015771	21015771	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:21015771T>C	uc010sil.2	+	5	775	c.710T>C	c.(709-711)aTt>aCt	p.I237T	SLCO1B3_uc001rek.3_Missense_Mutation_p.I237T|SLCO1B3_uc001rel.3_Missense_Mutation_p.I237T|SLCO1B3_uc010sim.2_Intron			Q9NPD5	SO1B3_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1B3 (SLCO1B3), mRNA.	237					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					TACGTGGATATTGGATATGTA	0.358000														48			22		0	0	1	0	0
CLIP2	7461	broad.mit.edu	37	7	73790597	73790597	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:73790597G>A	uc003uam.3	+	9	2193	c.1866G>A	c.(1864-1866)tcG>tcA	p.S622S	CLIP2_uc003uan.3_Silent_p.S587S|CLIP2_uc003uao.3_Silent_p.S16S	NM_003388	NP_003379	Q9UDT6	CLIP2_HUMAN	Homo sapiens CAP-GLY domain containing linker protein 2 (CLIP2), transcript variant 1, mRNA.	622						microtubule associated complex				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						CGCTGGCCTCGGACCACCAGA	0.622000														42			14		0	0	1	0	0
MRGPRX3	117195	broad.mit.edu	37	11	18159368	18159368	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:18159368C>T	uc021qek.1	+	0	619	c.619C>T	c.(619-621)Cgg>Tgg	p.R207W	MRGPRX3_uc001mnu.3_Missense_Mutation_p.R207W	NM_054031	NP_473372	Q96LB0	MRGX3_HUMAN	Homo sapiens MAS-related GPR, member X3 (MRGPRX3), mRNA.	207						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						CTGTGGATCCCGGAAGATGCC	0.542000														69			5		0	0	1	0	0
SPTLC2	9517	broad.mit.edu	37	14	78028820	78028820	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:78028820G>T	uc001xub.3	-	5	957	c.769C>A	c.(769-771)Ctg>Atg	p.L257M		NM_004863	NP_004854	O15270	SPTC2_HUMAN	Homo sapiens serine palmitoyltransferase, long chain base subunit 2 (SPTLC2), mRNA.	257						integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(5)	19			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0346)	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	TCATCACTCAGAATCAGGCAA	0.433000														48			6		5.18039e-06	5.80246e-06	1	1	0
DUXA	503835	broad.mit.edu	37	19	57669820	57669820	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:57669820C>T	uc002qoa.1	-	3	359	c.314G>A	c.(313-315)cGt>cAt	p.R105H		NM_001012729	NP_001012747	A6NLW8	DUXA_HUMAN	Homo sapiens double homeobox A (DUXA), mRNA.	105						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.R105C(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	17		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0123)		GTAGGTGGTACGACACCGTCT	0.468000														51			5		0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152674457	152674457	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:152674457C>T	uc021zhb.1	-	66	11417	c.11194G>A	c.(11194-11196)Gct>Act	p.A3732T	SYNE1_uc003qot.4_Missense_Mutation_p.A3717T|SYNE1_uc003qou.4_Missense_Mutation_p.A3732T|SYNE1_uc010kja.2_Missense_Mutation_p.A437T	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	3732					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	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)		ATCTTGGTAGCCACATTCTTG	0.413000										HNSCC(10;0.0054)				181			16		0	0	1	0	0
SLC35G2	80723	broad.mit.edu	37	3	136574386	136574386	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:136574386C>T	uc003erf.4	+	1	1298	c.1084C>T	c.(1084-1086)Cag>Tag	p.Q362*	SLC35G2_uc003erg.4_Nonsense_Mutation_p.Q362*|SLC35G2_uc010hub.3_Nonsense_Mutation_p.Q362*|SLC35G2_uc021xem.1_Nonsense_Mutation_p.Q362*	NM_001097600	NP_079522	Q8TBE7	TMM22_HUMAN	Homo sapiens transmembrane protein 22 (TMEM22), transcript variant 3, mRNA.	362	DUF6 2.					Golgi apparatus|integral to membrane											TATGGTCTTGCAGCTTCTCGT	0.398000														145			82		0	0	1	0	0
PRSS38	339501	broad.mit.edu	37	1	228004916	228004916	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:228004916G>T	uc001hrh.3	+	2	318	c.318G>T	c.(316-318)aaG>aaT	p.K106N		NM_183062	NP_898885	A1L453	PRS38_HUMAN	Homo sapiens protease, serine, 38 (PRSS38), mRNA.	106	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						ACAGGGACAAGAATATCAAAA	0.582000														52			27		4.40665e-25	5.76344e-25	1	1	0
SLCO6A1	133482	broad.mit.edu	37	5	101748843	101748843	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:101748843C>A	uc003knn.3	-	8	1649	c.1477G>T	c.(1477-1479)Ggg>Tgg	p.G493W	SLCO6A1_uc003kno.3_Missense_Mutation_p.G240W|SLCO6A1_uc003knp.3_Missense_Mutation_p.G493W|SLCO6A1_uc003knq.3_Missense_Mutation_p.G431W	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 6A1 (SLCO6A1), mRNA.	493						integral to membrane|plasma membrane	transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		CCCAACTTCCCTGTTCTGTAA	0.303000														30			7		0.000157383	0.000170012	1	1	0
HLTF	6596	broad.mit.edu	37	3	148750076	148750076	+	Silent	SNP	A	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:148750076A>T	uc003ewq.1	-	24	3179	c.2961T>A	c.(2959-2961)acT>acA	p.T987T	HLTF_uc003ewr.1_Silent_p.T987T|HLTF_uc003ews.1_Silent_p.T986T|HLTF_uc010hve.1_Silent_p.T986T	NM_139048	NP_620636	Q14527	HLTF_HUMAN	Homo sapiens helicase-like transcription factor (HLTF), transcript variant 2, mRNA.	987	Helicase C-terminal.|Interaction with SP1 and SP3.				chromatin modification|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			TTGGTTTTTTAGTTCCAAAGG	0.299000														24			10		0	0	1	0	0
SHANK1	50944	broad.mit.edu	37	19	51169592	51169592	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:51169592G>T	uc002psx.1	-	21	5644	c.5625C>A	c.(5623-5625)agC>agA	p.S1875R	SHANK1_uc002psw.1_Missense_Mutation_p.S1259R	NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 1 (SHANK1), mRNA.	1875					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		GAAGCTTGGAGCTGAGTTCAC	0.697000														15			7		0.00198382	0.00208369	1	1	0
LPAR6	10161	broad.mit.edu	37	13	48986512	48986512	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:48986512C>A	uc010acu.3	-	0	1142	c.48G>T	c.(46-48)aaG>aaT	p.K16N	RB1_uc001vcb.3_Intron|LPAR6_uc001vcc.1_Intron|LPAR6_uc001vce.3_Missense_Mutation_p.K16N|LPAR6_uc001vcf.3_Missense_Mutation_p.K16N	NM_001162498	NP_005758	P43657	LPAR6_HUMAN	Homo sapiens lysophosphatidic acid receptor 6 (LPAR6), transcript variant 3, mRNA.	16						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.0?(15)|p.?(4)		NS(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	14						ACAAAGTGTACTTAAAGGAGT	0.423000														53			7		8.12818e-05	8.84769e-05	1	1	0
ABI2	10152	broad.mit.edu	37	2	204255867	204255867	+	Splice_Site	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:204255867G>A	uc002vaa.3	+	5	813	c.578_splice	c.e5+1	p.G193_splice	ABI2_uc010zig.1_Splice_Site|ABI2_uc010zij.2_Splice_Site_p.G131_splice|ABI2_uc002uzz.3_Splice_Site_p.G187_splice|ABI2_uc010zih.2_Intron|ABI2_uc010zii.2_Splice_Site_p.G187_splice|ABI2_uc002vab.3_Splice_Site_p.G142_splice|ABI2_uc010zik.2_Splice_Site_p.G28_splice|ABI2_uc010zil.2_Splice_Site_p.G28_splice|ABI2_uc010zim.2_Splice_Site_p.G28_splice|ABI2_uc002vac.3_Splice_Site_p.G28_splice	NM_005759	NP_005750	Q9NYB9	ABI2_HUMAN	Homo sapiens abl-interactor 2 (ABI2), mRNA.	193	Pro-rich.				actin polymerization or depolymerization|cell migration|peptidyl-tyrosine phosphorylation	cytoskeleton|cytosol|filopodium|lamellipodium	DNA binding|SH3 domain binding|cytoskeletal adaptor activity|kinase binding|proline-rich region binding|ubiquitin protein ligase binding			breast(1)|kidney(3)|large_intestine(1)|liver(2)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	15						GGACACTTGGGTGAGTATATA	0.398000														14			7		0	0	1	0	0
MSRB2	22921	broad.mit.edu	37	10	23408358	23408358	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:23408358G>A	uc001iro.3	+	3	533	c.422G>A	c.(421-423)cGc>cAc	p.R141H		NM_012228	NP_036360	Q9Y3D2	MSRB2_HUMAN	Homo sapiens methionine sulfoxide reductase B2 (MSRB2), mRNA.	141					protein repair	mitochondrion	peptide-methionine-(S)-S-oxide reductase activity|protein-methionine-R-oxide reductase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R141C(1)		endometrium(1)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	9					L-Methionine(DB00134)	GGATCAGCTCGCACAGAGGTT	0.512000														29			22		0	0	1	0	0
C1orf112	55732	broad.mit.edu	37	1	169777011	169777011	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:169777011C>A	uc001ggq.3	+	7	1343	c.643C>A	c.(643-645)Ctt>Att	p.L215I	C1orf112_uc001ggj.3_Non-coding_Transcript|C1orf112_uc001ggp.3_Missense_Mutation_p.L215I|C1orf112_uc009wvt.3_Intron|C1orf112_uc010plu.1_Missense_Mutation_p.L186I|C1orf112_uc009wvu.1_Intron|C1orf112_uc001ggr.3_Missense_Mutation_p.L80I|C1orf112_uc010plv.2_Missense_Mutation_p.L157I	NM_018186	NP_060656	Q9NSG2	CA112_HUMAN	Homo sapiens chromosome 1 open reading frame 112 (C1orf112), mRNA.	215										breast(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|stomach(1)	34	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TGAAGACATTCTTTTCTCCTT	0.353000														138			16		4.7546e-09	5.62729e-09	1	1	0
C10orf81	79949	broad.mit.edu	37	10	115529585	115529585	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:115529585A>G	uc001lat.2	+	5	1022	c.460A>G	c.(460-462)Agc>Ggc	p.S154G	C10orf81_uc009xyc.2_Missense_Mutation_p.S72G|C10orf81_uc001lar.2_Missense_Mutation_p.S160G|C10orf81_uc001las.2_Missense_Mutation_p.S72G|C10orf81_uc001lau.2_5'Flank	NM_182601	NP_872407	Q5SXH7	CJ081_HUMAN	Homo sapiens chromosome 10 open reading frame 81 (C10orf81), transcript variant 1, mRNA.	154										central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)	15		Colorectal(252;0.175)		Epithelial(162;0.0181)|all cancers(201;0.0204)		CTTCTACTCCAGCCCTCTCCT	0.493000														97			11		0	0	1	0	0
PEX5	5830	broad.mit.edu	37	12	7362699	7362699	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:7362699G>A	uc009zfu.2	+	16	2380	c.1800G>A	c.(1798-1800)tcG>tcA	p.S600S	PEX5_uc001qsw.3_Silent_p.S600S|PEX5_uc010sgc.2_Silent_p.S615S|PEX5_uc001qsu.3_Silent_p.S563S|PEX5_uc010sgd.2_Silent_p.S621S|PEX5_uc001qsv.3_Silent_p.S592S	NM_001131026	NP_001124498	P50542	PEX5_HUMAN	Homo sapiens peroxisomal biogenesis factor 5 (PEX5), transcript variant 5, mRNA.	600			S -> W (in IRD; mildly affects peroxisomal protein import).		protein import into peroxisome matrix, translocation|protein targeting to peroxisome|protein tetramerization|protein transport	cytosol|peroxisomal matrix|peroxisomal membrane	peroxisome matrix targeting signal-1 binding|protein C-terminus binding|protein N-terminus binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)	21						GTGCCATGTCGGAGAACATCT	0.592000														43			25		0	0	1	0	0
ARID5B	84159	broad.mit.edu	37	10	63851262	63851262	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:63851262T>C	uc001jlt.2	+	9	2496	c.2040T>C	c.(2038-2040)tcT>tcC	p.S680S	ARID5B_uc001jlu.2_Silent_p.S437S	NM_032199	NP_115575	Q14865	ARI5B_HUMAN	Homo sapiens AT rich interactive domain 5B (MRF1-like) (ARID5B), transcript variant 1, mRNA.	680					liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					TGCTCTACTCTAGGGGCAACC	0.542000														17			15		0	0	1	0	0
HLCS	3141	broad.mit.edu	37	21	38128917	38128917	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:38128917C>A	uc010gnb.3	-	10	3349	c.1935G>T	c.(1933-1935)gaG>gaT	p.E645D	HLCS_uc021wjb.1_Missense_Mutation_p.E645D|HLCS_uc002yvs.3_Missense_Mutation_p.E645D	NM_001242784	NP_001229713	P50747	BPL1_HUMAN	Homo sapiens holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase) (HLCS), transcript variant 3, mRNA.	645					cell proliferation|histone biotinylation|response to biotin	chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix	ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(46;0.0422)			Biotin(DB00121)	TGATCAGTTTCTCCAGCACAG	0.478000														80			52		3.21867e-24	4.2017e-24	1	1	0
PAQR7	164091	broad.mit.edu	37	1	26190160	26190160	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:26190160G>A	uc021ojm.1	-	0	171	c.171C>T	c.(169-171)acC>acT	p.T57T	PAQR7_uc001bkx.3_Silent_p.T57T	NM_178422	NP_848509	Q86WK9	MPRA_HUMAN	Homo sapiens progestin and adipoQ receptor family member VII (PAQR7), mRNA.	57					cell differentiation|multicellular organismal development|oogenesis	integral to membrane|plasma membrane	receptor activity|steroid binding			breast(3)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	9		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.16e-25)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000724)|BRCA - Breast invasive adenocarcinoma(304;0.000965)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0136)|READ - Rectum adenocarcinoma(331;0.0649)		AGAAGCGCCAGGTCTGATGCA	0.642000														37			17		0	0	1	0	0
MUC6	4588	broad.mit.edu	37	11	1018737	1018737	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:1018737G>A	uc001lsw.2	-	30	4115	c.4064C>T	c.(4063-4065)aCg>aTg	p.T1355M		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	Homo sapiens mucin 6, oligomeric mucus/gel-forming (MUC6), mRNA.	1355	Pro-rich.|Thr-rich.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent	p.T1354K(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|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;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CTGGGTGGCCGTTGTTCCTGG	0.582000														66			49		0	0	1	0	0
MRPS18C	51023	broad.mit.edu	37	4	84379555	84379555	+	Silent	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:84379555A>C	uc003hor.4	+	2	320	c.207A>C	c.(205-207)ggA>ggC	p.G69G	HELQ_uc003hom.3_5'Flank|HELQ_uc010ikb.3_5'Flank|HELQ_uc003hol.4_5'Flank|HELQ_uc010ikc.3_5'Flank|HELQ_uc003hon.1_5'Flank|HELQ_uc003hoo.1_5'Flank|HELQ_uc003hop.1_5'Flank|HELQ_uc003hoq.1_5'Flank	NM_016067	NP_057151	Q9Y3D5	RT18C_HUMAN	Homo sapiens mitochondrial ribosomal protein S18C (MRPS18C), nuclear gene encoding mitochondrial protein, mRNA.	69					translation	mitochondrial small ribosomal subunit	structural constituent of ribosome			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5		Hepatocellular(203;0.114)				TCTTGTGTGGAAAGCATGTAG	0.328000														45			20		0	0	1	0	0
FSHR	2492	broad.mit.edu	37	2	49190357	49190357	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:49190357G>T	uc002rww.3	-	9	1713	c.1603C>A	c.(1603-1605)Ctt>Att	p.L535I	FSHR_uc010fbn.3_Missense_Mutation_p.L509I|FSHR_uc002rwx.3_Missense_Mutation_p.L473I	NM_000145	NP_000136	P23945	FSHR_HUMAN	Homo sapiens follicle stimulating hormone receptor (FSHR), transcript variant 1, mRNA.	535					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	TTGAGCACAAGGAGGGACATG	0.517000									Gonadal Dysgenesis, 46 XX					14			12		1.5842e-08	1.86177e-08	1	1	0
TNFAIP1	7126	broad.mit.edu	37	17	26666704	26666704	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:26666704C>T	uc002hax.2	+	1	176	c.157C>T	c.(157-159)Ctc>Ttc	p.L53F	TNFAIP1_uc002hay.3_Missense_Mutation_p.L53F|TNFAIP1_uc010waf.2_Intron	NM_021137	NP_066960	Q13829	BACD2_HUMAN	Homo sapiens tumor necrosis factor, alpha-induced protein 1 (endothelial) (TNFAIP1), mRNA.	53	BTB.				DNA replication|apoptosis|cell migration|embryo development|immune response|negative regulation of Rho protein signal transduction|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|endosome|nucleus|voltage-gated potassium channel complex	GTP-Rho binding|voltage-gated potassium channel activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)	12	all_lung(13;0.000294)|Lung NSC(42;0.000964)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		CGACACCATGCTCAAGGCCAT	0.627000														43			20		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140175795	140175795	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140175795G>A	uc003lhd.2	+	0	1352	c.1246G>A	c.(1246-1248)Gag>Aag	p.E416K	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhc.1_Missense_Mutation_p.E416K|PCDHAC2_uc011czy.2_Missense_Mutation_p.E416K	NM_018905	NP_061728	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 2 (PCDHA2), transcript variant 1, mRNA.	430	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTGGACCGCGAGAGCGTGTC	0.627000														76			46		0	0	1	0	0
USP6	9098	broad.mit.edu	37	17	5048783	5048783	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:5048783G>T	uc002gau.1	+	26	4306	c.2076G>T	c.(2074-2076)aaG>aaT	p.K692N	USP6_uc002gav.1_Missense_Mutation_p.K692N|USP6_uc010ckz.1_Missense_Mutation_p.K375N	NM_004505	NP_004496	P35125	UBP6_HUMAN	Homo sapiens ubiquitin specific peptidase 6 (Tre-2 oncogene) (USP6), mRNA.	692					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	Rab GTPase activator activity|calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						TCAAATGCAAGACATGTGGGC	0.388000			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts									53			32		2.46105e-21	3.1844e-21	1	1	0
ADNP	23394	broad.mit.edu	37	20	49508536	49508536	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:49508536G>A	uc002xvt.1	-	4	3060	c.2715C>T	c.(2713-2715)aaC>aaT	p.N905N	ADNP_uc002xvu.1_Silent_p.N905N	NM_015339	NP_852107	Q9H2P0	ADNP_HUMAN	Homo sapiens activity-dependent neuroprotector homeobox (ADNP), transcript variant 1, mRNA.	905						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						CTGGGTTATCGTTAGAGATTT	0.388000														104			68		0	0	1	0	0
MYO9A	4649	broad.mit.edu	37	15	72338703	72338703	+	Nonsense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:72338703C>A	uc002atl.4	-	1	675	c.202G>T	c.(202-204)Gaa>Taa	p.E68*	MYO9A_uc010biq.3_Intron|MYO9A_uc002ato.3_Nonsense_Mutation_p.E68*|MYO9A_uc002atn.1_Nonsense_Mutation_p.E68*	NM_006901	NP_008832	B2RTY4	MYO9A_HUMAN	Homo sapiens myosin IXA (MYO9A), mRNA.	68	Ras-associating.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	ATP binding|GTPase activator activity|actin binding|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						CCACCAAATTCCTTTACCTCT	0.423000														46			30		1.75199e-13	2.18028e-13	1	1	0
KCNN4	3783	broad.mit.edu	37	19	44273958	44273958	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:44273958C>A	uc002oxl.3	-	4	1239	c.843G>T	c.(841-843)ctG>ctT	p.L281L		NM_002250	NP_002241	O15554	KCNN4_HUMAN	Homo sapiens potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4 (KCNN4), mRNA.	281					defense response	voltage-gated potassium channel complex	calcium-activated potassium channel activity|calmodulin binding			biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0352)			Clotrimazole(DB00257)|Halothane(DB01159)|Quinine(DB00468)	CCACGGCCACCAGCAGGGCTG	0.592000														45			23		1.9806e-07	2.28575e-07	1	1	0
BHMT2	23743	broad.mit.edu	37	5	78379191	78379191	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:78379191C>A	uc003kft.3	+	5	834	c.775C>A	c.(775-777)Ccc>Acc	p.P259T	BHMT2_uc011cth.2_Missense_Mutation_p.P195T	NM_017614	NP_060084	Q9H2M3	BHMT2_HUMAN	Homo sapiens betaine--homocysteine S-methyltransferase 2 (BHMT2), transcript variant 1, mRNA.	259	Hcy-binding.				methionine biosynthetic process	cytoplasm	betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding			endometrium(2)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	15		all_lung(232;0.00063)|Lung NSC(167;0.00171)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;2.09e-45)|Epithelial(54;9.3e-41)|all cancers(79;4.09e-36)	L-Methionine(DB00134)	CCCAGAATATCCCTTTGGTAA	0.488000														33			6		1	1	1	1	0
TRPC5	7224	broad.mit.edu	37	X	111195533	111195533	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:111195533G>A	uc004epl.1	-	1	1035	c.116C>T	c.(115-117)gCt>gTt	p.A39V	TRPC5_uc004epm.1_Missense_Mutation_p.A39V	NM_012471	NP_036603	Q9UL62	TRPC5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 5 (TRPC5), mRNA.	39					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CTTCTCCACAGCATTGAGGAA	0.527000														49			30		0	0	1	0	0
ZNF526	116115	broad.mit.edu	37	19	42730536	42730536	+	Missense_Mutation	SNP	G	A	A	rs143303371	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:42730536G>A	uc002osz.1	+	2	2137	c.1981G>A	c.(1981-1983)Ggg>Agg	p.G661R	ZNF526_uc021uvc.1_Missense_Mutation_p.G661R	NM_133444	NP_597701	Q8TF50	ZN526_HUMAN	Homo sapiens zinc finger protein 526 (ZNF526), mRNA.	661					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(3)	22		Prostate(69;0.0704)				TGAAGCAGGCGGGCTCTTGCA	0.602000														92			33		0	0	1	0	0
IGSF10	285313	broad.mit.edu	37	3	151163978	151163978	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:151163978G>T	uc011bod.2	-	3	3791	c.3791C>A	c.(3790-3792)tCt>tAt	p.S1264Y		NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	Homo sapiens immunoglobulin superfamily, member 10 (IGSF10), transcript variant 1, mRNA.	1264					cell differentiation|multicellular organismal development|ossification	extracellular region		p.S1264C(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CAAGGTATTAGATGGAATTTG	0.458000														83			46		1.6237e-14	2.03388e-14	1	1	0
SERPINA12	145264	broad.mit.edu	37	14	94964255	94964255	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:94964255G>A	uc001ydj.3	-	2	1276	c.480C>T	c.(478-480)gcC>gcT	p.A160A		NM_173850	NP_776249	Q8IW75	SPA12_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12 (SERPINA12), mRNA.	160					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	p.A160A(2)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33				COAD - Colon adenocarcinoma(157;0.235)		GGATGGTTTCGGCACTGTAAA	0.443000														68			31		0	0	1	0	0
F7	2155	broad.mit.edu	37	13	113772771	113772771	+	Missense_Mutation	SNP	C	T	T	rs149779477		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:113772771C>T	uc001vsv.3	+	8	901	c.850C>T	c.(850-852)Cgg>Tgg	p.R284W	F7_uc001vsw.3_Missense_Mutation_p.R262W|F7_uc010tjt.2_Missense_Mutation_p.R215W	NM_000131	NP_000122	P08709	FA7_HUMAN	Homo sapiens coagulation factor VII (serum prothrombin conversion accelerator) (F7), transcript variant 1, mRNA.	284	Peptidase S1.				anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	Golgi lumen|endoplasmic reticulum lumen|plasma membrane	calcium ion binding|glycoprotein binding|serine-type endopeptidase activity	p.R284L(1)		large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)	GCAGAGCCGGCGGGTGGCGCA	0.682000														36			26		0	0	1	0	0
UBA7	7318	broad.mit.edu	37	3	49849917	49849917	+	Silent	SNP	T	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49849917T>A	uc003cxr.3	-	5	789	c.618A>T	c.(616-618)ggA>ggT	p.G206G		NM_003335	NP_003326	P41226	UBA7_HUMAN	Homo sapiens ubiquitin-like modifier activating enzyme 7 (UBA7), mRNA.	206	2 approximate repeats.				ISG15-protein conjugation|negative regulation of type I interferon production	cytosol	ATP binding|ISG15 activating enzyme activity|ligase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		TCACCAAGTCTCCATCACGGA	0.567000														50			5		0	0	1	0	0
FAM91A1	157769	broad.mit.edu	37	8	124792766	124792766	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:124792766T>C	uc003yqv.3	+	7	748	c.687T>C	c.(685-687)gaT>gaC	p.D229D	FAM91A1_uc011lik.1_Silent_p.D229D|FAM91A1_uc011lil.2_5'UTR	NM_144963	NP_659400	Q658Y4	F91A1_HUMAN	Homo sapiens family with sequence similarity 91, member A1 (FAM91A1), mRNA.	229										breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00192)			CAATATCTGATGACAGTTGTA	0.348000														32			3		0	0	1	0	0
GDI1	2664	broad.mit.edu	37	X	153669466	153669466	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153669466C>T	uc004fli.4	+	6	1085	c.743C>T	c.(742-744)aCa>aTa	p.T248I	GDI1_uc011mzo.1_3'UTR|GDI1_uc004flj.3_5'Flank	NM_001493	NP_001484	P31150	GDIA_HUMAN	Homo sapiens GDP dissociation inhibitor 1 (GDI1), mRNA.	248					protein transport|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|midbody	GTPase activator activity|protein binding			autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	16	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TATGGGGGGACATATATGCTG	0.567000														89			50		0	0	1	0	0
SLC2A3	6515	broad.mit.edu	37	12	8088619	8088619	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:8088619C>A	uc001qtr.3	-	0	274	c.12G>T	c.(10-12)caG>caT	p.Q4H		NM_006931	NP_008862	P11169	GTR3_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 3 (SLC2A3), mRNA.	4					carbohydrate metabolic process|water-soluble vitamin metabolic process	integral to membrane|plasma membrane	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				Kidney(36;0.0866)		TTCTTACCTTCTGTGTCCCCA	0.358000														111			18		2.94398e-08	3.4452e-08	1	1	0
PITPNM1	9600	broad.mit.edu	37	11	67267735	67267735	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:67267735G>A	uc001olx.3	-	4	987	c.798C>T	c.(796-798)tcC>tcT	p.S266S	PITPNM1_uc001olw.3_5'Flank|PITPNM1_uc001oly.3_Silent_p.S266S|PITPNM1_uc001olz.3_Silent_p.S266S	NM_004910	NP_004901	O00562	PITM1_HUMAN	Homo sapiens phosphatidylinositol transfer protein, membrane-associated 1 (PITPNM1), transcript variant 1, mRNA.	266					brain development|lipid metabolic process|phototransduction|protein transport	Golgi cisterna membrane|cleavage furrow|endoplasmic reticulum membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						GCTGGGCCTCGGACCCCTCAC	0.692000														37			25		0	0	1	0	0
BC104003	0	broad.mit.edu	37	11	64884244	64884244	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:64884244C>T	uc009yqb.1	+	0	370	c.115C>T	c.(115-117)Cag>Tag	p.Q39*	ZNHIT2_uc001ocw.3_Silent_p.L294L					Homo sapiens cDNA clone IMAGE:40024031.																		CCTCGCCCAGCAGGATGCGGG	0.706000														45			5		0	0	1	0	0
CFH	3075	broad.mit.edu	37	1	196884207	196884207	+	Silent	SNP	T	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:196884207T>A	uc001gtp.3	+	8	1616	c.1479T>A	c.(1477-1479)ctT>ctA	p.L493L	CFH_uc021pgt.1_Silent_p.L116L|CFH_uc009wyy.3_Silent_p.L492L|CFH_uc001gto.3_Silent_p.L246L	NM_001201550	NP_001188479	P08603	CFAH_HUMAN	Homo sapiens complement factor H-related 4 (CFHR4), transcript variant 1, mRNA.	845	Sushi 8.		T -> R (in dbSNP:rs1061171).		complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						ACTATGAACTTCAGGGTTCTA	0.413000														170			20		0	0	1	0	0
SLC26A10	65012	broad.mit.edu	37	12	58016897	58016897	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:58016897G>A	uc001spe.3	+	6	1341	c.1030G>A	c.(1030-1032)Gtg>Atg	p.V344M	SLC26A10_uc001spf.3_Non-coding_Transcript|SLC26A10_uc009zpz.2_5'Flank	NM_133489	NP_597996	Q8NG04	S2610_HUMAN	Homo sapiens solute carrier family 26, member 10 (SLC26A10), mRNA.	344						integral to membrane	antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)	19	Melanoma(17;0.122)					CAATCTACTGGTGGATGCTGG	0.567000														92			65		0	0	1	0	0
TMPRSS7	344805	broad.mit.edu	37	3	111766665	111766665	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:111766665G>A	uc010hqb.2	+	4	602	c.432G>A	c.(430-432)agG>agA	p.R144R	TMPRSS7_uc011bhr.1_5'UTR	NM_001042575	NP_001036040	Q7RTY8	TMPS7_HUMAN	Homo sapiens transmembrane protease, serine 7 (TMPRSS7), transcript variant 1, mRNA.	270					proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity			breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						CCTCAGGGAGGCTGATGTGTC	0.517000														22			16		0	0	1	0	0
AKR1E2	83592	broad.mit.edu	37	10	4877927	4877927	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:4877927C>T	uc001ihi.3	+	3	500	c.385C>T	c.(385-387)Cga>Tga	p.R129*	AKR1E2_uc010qam.1_Nonsense_Mutation_p.R90*|AKR1E2_uc001ihh.1_Nonsense_Mutation_p.R129*|AKR1E2_uc001ihj.3_Non-coding_Transcript|AKR1E2_uc001ihk.3_Nonsense_Mutation_p.R129*|AKR1E2_uc009xhw.3_Nonsense_Mutation_p.R129*	NM_001040177	NP_001035267	Q96JD6	AKCL2_HUMAN	Homo sapiens aldo-keto reductase family 1, member E2 (AKR1E2), mRNA.	129						cytoplasm	1,5-anhydro-D-fructose reductase activity	p.R129*(2)		NS(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)	15						CTCACATCCTCGAGTGCAGGA	0.527000														21			22		0	0	1	0	0
INHBE	83729	broad.mit.edu	37	12	57849418	57849418	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57849418A>G	uc001snw.3	+	0	323	c.99A>G	c.(97-99)aaA>aaG	p.K33K		NM_031479	NP_113667	P58166	INHBE_HUMAN	Homo sapiens inhibin, beta E (INHBE), mRNA.	33					growth	extracellular region	growth factor activity|hormone activity			breast(2)|central_nervous_system(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	15						GGGGCTCCAAACTGGCACCCC	0.612000														29			4		0	0	1	0	0
FLNB	2317	broad.mit.edu	37	3	58134478	58134478	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:58134478C>T	uc003djj.2	+	35	6155	c.5990C>T	c.(5989-5991)tCg>tTg	p.S1997L	FLNB_uc010hne.2_Missense_Mutation_p.S2028L|FLNB_uc003djk.2_Missense_Mutation_p.S1986L|FLNB_uc010hnf.2_Missense_Mutation_p.S1973L|FLNB_uc003djl.2_Missense_Mutation_p.S1817L|FLNB_uc003djm.2_Missense_Mutation_p.S1804L|FLNB_uc010hng.1_5'Flank	NM_001457	NP_001448	O75369	FLNB_HUMAN	Homo sapiens filamin B, beta (FLNB), transcript variant 2, mRNA.	1997	Interaction with the cytoplasmic tail of GP1BA.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		GTGGTCCAGTCGGAGATTGGT	0.567000														31			21		0	0	1	0	0
MRPL36	64979	broad.mit.edu	37	5	1798862	1798862	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:1798862G>A	uc003jcx.4	-	1	251	c.188C>T	c.(187-189)gCg>gTg	p.A63V	MRPL36_uc021xwh.1_Missense_Mutation_p.A63V|NDUFS6_uc003jcy.3_5'Flank	NM_032479	NP_115868	Q9P0J6	RM36_HUMAN	Homo sapiens mitochondrial ribosomal protein L36 (MRPL36), nuclear gene encoding mitochondrial protein, mRNA.	63					translation	mitochondrial large ribosomal subunit	structural constituent of ribosome			breast(1)|lung(2)	3				GBM - Glioblastoma multiforme(108;0.241)		GAACCCCAGCGCAGGCAGCAG	0.592000														32			13		0	0	1	0	0
ZNF16	7564	broad.mit.edu	37	8	146156226	146156226	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:146156226C>A	uc003zet.3	-	3	2134	c.1947G>T	c.(1945-1947)agG>agT	p.R649S	ZNF16_uc003zeu.3_Missense_Mutation_p.R649S	NM_001029976	NP_008889	P17020	ZNF16_HUMAN	Homo sapiens zinc finger protein 16 (ZNF16), transcript variant 2, mRNA.	649					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1)	29	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)		CAGTGTGAATCCTCTGGTGCT	0.522000														101			7		2.7689e-08	3.24273e-08	1	1	0
DHX35	60625	broad.mit.edu	37	20	37634834	37634834	+	Missense_Mutation	SNP	G	A	A	rs147968535		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:37634834G>A	uc002xjh.3	+	11	1087	c.1057G>A	c.(1057-1059)Ggc>Agc	p.G353S	DHX35_uc010zwa.2_Missense_Mutation_p.G198S|DHX35_uc010zwc.2_Missense_Mutation_p.G322S|DHX35_uc010zwb.2_Missense_Mutation_p.G198S	NM_021931	NP_068750	Q9H5Z1	DHX35_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 35 (DHX35), transcript variant 1, mRNA.	353	Helicase C-terminal.					catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40		Myeloproliferative disorder(115;0.00878)				CACAATCAGCGGCATTGTGTA	0.458000														272			133		0	0	1	0	0
COL6A6	131873	broad.mit.edu	37	3	130285612	130285612	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:130285612C>T	uc010htl.3	+	3	1380	c.1349C>T	c.(1348-1350)aCa>aTa	p.T450I		NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	Homo sapiens collagen, type VI, alpha 6 (COL6A6), mRNA.	450	Nonhelical region.|VWFA 3.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						ACCCAGGCCACAGATTTCCAT	0.493000														51			12		0	0	1	0	0
NRXN1	9378	broad.mit.edu	37	2	50850457	50850457	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:50850457G>A	uc021vhh.1	-	4	2050	c.1129C>T	c.(1129-1131)Cgt>Tgt	p.R377C	NRXN1_uc002rxb.4_Missense_Mutation_p.R57C|NRXN1_uc021vhg.1_Missense_Mutation_p.R410C|NRXN1_uc021vhi.1_Missense_Mutation_p.R406C|NRXN1_uc021vhj.1_Missense_Mutation_p.R373C|NRXN1_uc002rxc.1_Non-coding_Transcript	NM_004801	NP_004792	Q9ULB1	NRX1A_HUMAN	Homo sapiens neurexin 1 (NRXN1), transcript variant alpha1, mRNA.	377	Laminin G-like 2.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	p.A377A(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GTTACCTGACGCAGATTCCTG	0.443000														18			10		0	0	1	0	0
ASUN	55726	broad.mit.edu	37	12	27070659	27070659	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:27070659C>T	uc001rhk.4	-	8	1434	c.897G>A	c.(895-897)tcG>tcA	p.S299S	ASUN_uc001rhj.4_5'UTR|ASUN_uc010sjk.2_Silent_p.S198S	NM_018164	NP_060634	Q9NVM9	M89BB_HUMAN	Homo sapiens asunder, spermatogenesis regulator homolog (Drosphila) (ASUN), mRNA.	299					cell division|mitosis|regulation of mitotic cell cycle		protein binding										CACCTAGATGCGAATCACCTT	0.323000														22			9		0	0	1	0	0
ZNF708	7562	broad.mit.edu	37	19	21477090	21477090	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:21477090A>G	uc002npq.1	-	3	876	c.678T>C	c.(676-678)tgT>tgC	p.C226C	ZNF708_uc002npr.1_Silent_p.C162C|ZNF708_uc010ecs.1_Silent_p.C162C	NM_021269	NP_067092	P17019	ZN708_HUMAN	Homo sapiens zinc finger protein 708 (ZNF708), mRNA.	226					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(2)|stomach(1)	32						CACATTCTTCACATTTGTAGG	0.348000														14			11		0	0	1	0	0
PRPF40B	25766	broad.mit.edu	37	12	50027216	50027216	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:50027216C>A	uc001rur.1	+	6	463	c.400C>A	c.(400-402)Ctg>Atg	p.L134M	PRPF40B_uc001rup.1_Missense_Mutation_p.L156M|PRPF40B_uc001ruq.1_Missense_Mutation_p.L128M|PRPF40B_uc001rus.1_Missense_Mutation_p.L77M	NM_001031698	NP_001026868	Q6NWY9	PR40B_HUMAN	Homo sapiens PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae) (PRPF40B), transcript variant 1, mRNA.	134	WW 2.				RNA splicing|mRNA processing	nuclear speck				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						GCAGCTGCTCCTGTCCCAATG	0.542000														266			25		9.39395e-14	1.17142e-13	1	1	0
CD1A	909	broad.mit.edu	37	1	158224912	158224912	+	Missense_Mutation	SNP	G	A	A	rs140904380	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:158224912G>A	uc001frt.3	+	1	630	c.97G>A	c.(97-99)Gca>Aca	p.A33T	CD1A_uc021pbk.1_5'Flank	NM_001763	NP_001754	P06126	CD1A_HUMAN	Homo sapiens CD1a molecule (CD1A), mRNA.	33					antigen processing and presentation|immune response	MHC class I protein complex|endosome membrane|integral to plasma membrane		p.A33T(2)|p.I32I(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	CACCTGGATCGCATCCTTTTA	0.468000														71			38		0	0	1	0	0
RINT1	60561	broad.mit.edu	37	7	105177032	105177032	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:105177032C>T	uc003vda.1	+	2	340	c.109C>T	c.(109-111)Ctt>Ttt	p.L37F	RINT1_uc010ljj.1_5'UTR	NM_021930	NP_068749	Q6NUQ1	RINT1_HUMAN	Homo sapiens RAD50 interactor 1 (RINT1), mRNA.	37					G2/M transition DNA damage checkpoint|cell cycle|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						TGTTACAGTTCTTATTGGAAG	0.323000														127			57		0	0	1	0	0
KRT2	3849	broad.mit.edu	37	12	53040720	53040720	+	Missense_Mutation	SNP	C	T	T	rs148103071	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:53040720C>T	uc001sat.3	-	6	1306	c.1273G>A	c.(1273-1275)Gca>Aca	p.A425T		NM_000423	NP_000414	P35908	K22E_HUMAN	Homo sapiens keratin 2 (KRT2), mRNA.	425	Coil 2.|Rod.				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		TCGGCATCTGCGATGGCATCT	0.572000														44			32		0	0	1	0	0
SPG21	51324	broad.mit.edu	37	15	65275859	65275859	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:65275859C>T	uc002aod.3	-	1	142	c.49G>A	c.(49-51)Gtt>Att	p.V17I	SPG21_uc002aoe.3_Missense_Mutation_p.V17I|SPG21_uc010bhb.3_Missense_Mutation_p.V17I	NM_001127889	NP_057714	Q9NZD8	SPG21_HUMAN	Homo sapiens spastic paraplegia 21 (autosomal recessive, Mast syndrome) (SPG21), transcript variant 2, mRNA.	17					cell death	cytosol|endosome membrane|trans-Golgi network transport vesicle	CD4 receptor binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|urinary_tract(1)	10						TTAAGGGGAACTGTACCTCTA	0.333000														4			4		0	0	1	0	0
IGSF22	283284	broad.mit.edu	37	11	18735622	18735622	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:18735622C>T	uc009yht.2	-	13	2062	c.1872G>A	c.(1870-1872)acG>acA	p.T624T	IGSF22_uc001mpa.2_Non-coding_Transcript	NM_173588	NP_775859	Q8N9C0	IGS22_HUMAN	Homo sapiens immunoglobulin superfamily, member 22 (IGSF22), mRNA.	624	Ig-like 4.									NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						TGATGTGGGCCGTGTGGCCTA	0.617000														43			25		0	0	1	0	0
PSMC2	5701	broad.mit.edu	37	7	103008238	103008238	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:103008238C>T	uc003vbs.3	+	10	1314	c.1126C>T	c.(1126-1128)Ctg>Ttg	p.L376L	SLC26A5_uc003vbt.2_Intron|SLC26A5_uc003vbu.2_Intron|SLC26A5_uc003vbv.2_Intron|PSMC2_uc011klo.2_Silent_p.L239L	NM_002803	NP_002794	P35998	PRS7_HUMAN	Homo sapiens proteasome (prosome, macropain) 26S subunit, ATPase, 2 (PSMC2), transcript variant 1, mRNA.	376					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|interspecies interaction between organisms|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	21						GTTAGCACGACTGTGTCCAAA	0.373000														126			7		0	0	1	0	0
KCNT2	343450	broad.mit.edu	37	1	196300299	196300299	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:196300299A>G	uc001gtd.1	-	17	2150	c.2090T>C	c.(2089-2091)tTa>tCa	p.L697S	KCNT2_uc009wyt.1_Non-coding_Transcript|KCNT2_uc001gte.1_Missense_Mutation_p.L647S|KCNT2_uc001gtf.1_Missense_Mutation_p.L697S|KCNT2_uc001gtg.1_Non-coding_Transcript|KCNT2_uc009wyu.3_Missense_Mutation_p.L697S|KCNT2_uc001gth.1_Missense_Mutation_p.L218S	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	Homo sapiens potassium channel, subfamily T, member 2 (KCNT2), mRNA.	697						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						GTCTAATCTTAAGCAGCAAAA	0.294000														215			12		0	0	1	0	0
SELE	6401	broad.mit.edu	37	1	169698503	169698503	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:169698503C>T	uc001ggm.4	-	6	1071	c.914G>A	c.(913-915)aGg>aAg	p.R305K	C1orf112_uc001ggj.3_Intron	NM_000450	NP_000441	P16581	LYAM2_HUMAN	Homo sapiens selectin E (SELE), mRNA.	305	Sushi 3.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					GCGGACGGCCCTGCATGTCAC	0.498000														23			10		0	0	1	0	0
MGA	23269	broad.mit.edu	37	15	42058358	42058358	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:42058358A>C	uc010ucy.2	+	23	8259	c.8078A>C	c.(8077-8079)aAt>aCt	p.N2693T	MGA_uc010ucz.2_Missense_Mutation_p.N2484T	NM_001164273	NP_001157745	Q8IWI9	MGAP_HUMAN	Homo sapiens MAX gene associated (MGA), transcript variant 1, mRNA.	2654						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		AATGAAGATAATTCCTTAGAG	0.458000														47			6		0	0	1	0	0
AVL9	23080	broad.mit.edu	37	7	32615649	32615649	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:32615649C>T	uc003tcv.1	+	12	1799	c.1653C>T	c.(1651-1653)agC>agT	p.S551S	AVL9_uc011kai.2_Intron|AVL9_uc010kwj.1_Intron	NM_015060	NP_055875	Q8NBF6	AVL9_HUMAN	Homo sapiens AVL9 homolog (S. cerevisiase) (AVL9), mRNA.	551						integral to membrane				endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						TGTGGAACAGCAACAAGCATC	0.398000														128			45		0	0	1	0	0
PER1	5187	broad.mit.edu	37	17	8051983	8051983	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:8051983G>A	uc002gkd.3	-	7	1265	c.1027C>T	c.(1027-1029)Cgc>Tgc	p.R343C	PER1_uc010vuq.2_Non-coding_Transcript|PER1_uc010vur.1_Missense_Mutation_p.R327C	NM_002616	NP_002607	O15534	PER1_HUMAN	Homo sapiens period homolog 1 (Drosophila) (PER1), mRNA.	343					circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						GAATGGATGCGCTCTGCAATC	0.622000			T	ETV6	"""AML, CMML"""			Other conserved DNA damage response genes						78			6		0	0	1	0	0
SNRPA	6626	broad.mit.edu	37	19	41265336	41265336	+	Splice_Site	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:41265336C>T	uc002ooz.3	+	3	802	c.247_splice	c.e3-1	p.R83_splice		NM_004596	NP_004587	P09012	SNRPA_HUMAN	Homo sapiens small nuclear ribonucleoprotein polypeptide A (SNRPA), mRNA.	83	RRM 1.					nucleoplasm|spliceosomal complex	RNA binding|nucleotide binding|protein binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)	10			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			tgtTTGGTAGCGTATCCAGTA	0.532000														45			19		0	0	1	0	0
SEH1L	81929	broad.mit.edu	37	18	12951898	12951898	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:12951898C>A	uc002krq.3	+	1	294	c.156C>A	c.(154-156)agC>agA	p.S52R	SEH1L_uc002krr.3_Missense_Mutation_p.S52R	NM_001013437	NP_001013455	Q96EE3	SEH1_HUMAN	Homo sapiens SEH1-like (S. cerevisiae) (SEH1L), transcript variant 1, mRNA.	52					attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|carbohydrate metabolic process|cell division|glucose transport|mRNA transport|mitotic metaphase plate congression|mitotic prometaphase|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	Nup107-160 complex|condensed chromosome kinetochore|cytosol				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	11						GTACTGCTAGCTGGAAGGTTA	0.244000														96			9		1.58986e-06	1.80238e-06	1	1	0
C7orf62	219557	broad.mit.edu	37	7	88423597	88423597	+	Silent	SNP	G	A	A	rs147171457	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:88423597G>A	uc003ujv.3	-	1	842	c.660C>T	c.(658-660)tcC>tcT	p.S220S	ZNF804B_uc011khi.2_Intron|C7orf62_uc022ahc.1_Silent_p.S220S	NM_152706	NP_689919	Q8TBZ9	CG062_HUMAN	Homo sapiens chromosome 7 open reading frame 62 (C7orf62), mRNA.	220										NS(1)|breast(1)|endometrium(3)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	30						TGAATTCTTCGGATTTGCACA	0.433000														77			26		0	0	1	0	0
CEP70	80321	broad.mit.edu	37	3	138256110	138256110	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:138256110A>G	uc003esl.3	-	6	743	c.545T>C	c.(544-546)tTa>tCa	p.L182S	CEP70_uc011bmk.2_Missense_Mutation_p.L162S|CEP70_uc011bml.2_Missense_Mutation_p.L164S|CEP70_uc011bmm.2_Missense_Mutation_p.L30S|CEP70_uc003esm.3_Missense_Mutation_p.L182S|CEP70_uc003esn.3_Missense_Mutation_p.L182S	NM_024491	NP_077817	Q8NHQ1	CEP70_HUMAN	Homo sapiens centrosomal protein 70kDa (CEP70), mRNA.	182					G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	24						CTCCTTTTTTAATCTACAGAC	0.358000														29			31		0	0	1	0	0
CASP8AP2	9994	broad.mit.edu	37	6	90573337	90573337	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:90573337G>A	uc003pnr.3	+	6	2105	c.1909G>A	c.(1909-1911)Gct>Act	p.A637T	CASP8AP2_uc003pns.2_Intron|CASP8AP2_uc003pnt.3_Missense_Mutation_p.A637T|CASP8AP2_uc011dzz.2_Missense_Mutation_p.A637T	NM_001137667	NP_001131139	Q9UKL3	C8AP2_HUMAN	Homo sapiens caspase 8 associated protein 2 (CASP8AP2), transcript variant 2, mRNA.	637					cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity			NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		ACCAAAGGTTGCTCTTCTAGC	0.438000														12			11		0	0	1	0	0
MTFMT	123263	broad.mit.edu	37	15	65308798	65308798	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:65308798T>G	uc002aof.4	-	5	815	c.789A>C	c.(787-789)agA>agC	p.R263S		NM_139242	NP_640335	Q96DP5	FMT_HUMAN	Homo sapiens mitochondrial methionyl-tRNA formyltransferase (MTFMT), nuclear gene encoding mitochondrial protein, mRNA.	263						mitochondrion	methionyl-tRNA formyltransferase activity|methyltransferase activity			endometrium(1)|large_intestine(3)|lung(3)|ovary(3)	10					Tetrahydrofolic acid(DB00116)	CACGGTAAAGTCTGAATATTT	0.348000														71			34		0	0	1	0	0
MAGEC3	139081	broad.mit.edu	37	X	140983167	140983167	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:140983167G>A	uc011mwp.2	+	4	1022	c.1022G>A	c.(1021-1023)aGc>aAc	p.S341N	MAGEC3_uc004fbs.3_5'UTR|MAGEC3_uc010nsj.3_5'Flank|MAGEC3_uc022cfh.1_5'Flank	NM_138702	NP_619647	Q8TD91	MAGC3_HUMAN	Homo sapiens melanoma antigen family C, 3 (MAGEC3), transcript variant 1, mRNA.	341	MAGE 1.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					GCAGAGGGAAGCGTCTTAGAC	0.582000														75			43		0	0	1	0	0
CBS	875	broad.mit.edu	37	21	44484021	44484021	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:44484021G>A	uc002zcu.2	-	8	1062	c.817C>T	c.(817-819)Cct>Tct	p.P273S	CBS_uc002zcs.1_Missense_Mutation_p.P168S|CBS_uc002zct.2_Missense_Mutation_p.P273S|CBS_uc002zcw.3_Missense_Mutation_p.P273S|CBS_uc002zcv.2_Missense_Mutation_p.P273S	NM_000071	NP_001171480	P35520	CBS_HUMAN	Homo sapiens cystathionine-beta-synthase (CBS), transcript variant 1, mRNA.	273					L-cysteine catabolic process|L-serine catabolic process|cysteine biosynthetic process from serine|cysteine biosynthetic process via cystathionine|homocysteine catabolic process|hydrogen sulfide biosynthetic process	cytosol|nucleolus	cystathionine beta-synthase activity|heme binding|protein homodimerization activity|pyridoxal phosphate binding|ubiquitin protein ligase binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(8)	17					L-Cysteine(DB00151)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|S-Adenosylmethionine(DB00118)	CTGCATCCAGGACACTTCTCC	0.627000														5			7		0	0	1	0	0
BSDC1	55108	broad.mit.edu	37	1	32841937	32841937	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:32841937G>A	uc001bvi.3	-	8	1180	c.1133C>T	c.(1132-1134)gCg>gTg	p.A378V	BSDC1_uc001bvh.4_Missense_Mutation_p.A361V|BSDC1_uc010ohg.2_Missense_Mutation_p.A378V|BSDC1_uc010ohh.2_Missense_Mutation_p.A305V|BSDC1_uc010ohi.2_Missense_Mutation_p.A266V|BSDC1_uc001bvg.4_Non-coding_Transcript|BSDC1_uc001bvj.3_Missense_Mutation_p.A257V			Q9NW68	BSDC1_HUMAN	Homo sapiens BSD domain containing 1 (BSDC1), transcript variant 1, mRNA.	361							protein binding			breast(1)|central_nervous_system(2)|kidney(1)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GTCTGTGGGCGCCTCCTCCCT	0.602000														99			68		0	0	1	0	0
DTX2P1-UPK3BP1-PMS2P11	441263	broad.mit.edu	37	7	76631493	76631493	+	RNA	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:76631493G>A	uc011kgn.1	+	3		c.634G>A			DTX2P1-UPK3BP1-PMS2P11_uc003ufw.4_Non-coding_Transcript					Homo sapiens DTX2P1-UPK3BP1-PMS2P11 readthrough (non-protein coding) (DTX2P1-UPK3BP1-PMS2P11), non-coding RNA.																		TGCATCATCTGCATGGAGAAG	0.592000														17			13		0	0	1	0	0
SLC26A8	116369	broad.mit.edu	37	6	35912039	35912039	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:35912039G>A	uc003olm.3	-	19	2662	c.2551C>T	c.(2551-2553)Caa>Taa	p.Q851*	SLC26A8_uc010jwa.3_Non-coding_Transcript|SLC26A8_uc003olk.3_Nonsense_Mutation_p.Q433*|SLC26A8_uc003oll.3_Nonsense_Mutation_p.Q746*|SLC26A8_uc003oln.3_Nonsense_Mutation_p.Q851*	NM_001193476	NP_443193	Q96RN1	S26A8_HUMAN	Homo sapiens solute carrier family 26, member 8 (SLC26A8), transcript variant 3, mRNA.	851	Interaction with RACGAP1.				cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						ACAGGCTGTTGGATCTTGATG	0.463000														50			22		0	0	1	0	0
BRD3	8019	broad.mit.edu	37	9	136901379	136901379	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:136901379G>A	uc004cew.3	-	9	1899	c.1711C>T	c.(1711-1713)Ccc>Tcc	p.P571S	BRD3_uc004cex.2_3'UTR	NM_007371	NP_031397	Q15059	BRD3_HUMAN	Homo sapiens bromodomain containing 3 (BRD3), mRNA.	571						nucleus	protein binding		BRD3/C15orf55(3)	kidney(1)|skin(1)|stomach(4)	6				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		TAGCTCATGGGCAGGCCCTCC	0.607000			T	C15orf55	lethal midline carcinoma of young people									46			6		0	0	1	0	0
EPHB3	2049	broad.mit.edu	37	3	184290522	184290522	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:184290522C>T	uc003foz.3	+	2	851	c.414C>T	c.(412-414)gaC>gaT	p.D138D		NM_004443	NP_004434	P54753	EPHB3_HUMAN	Homo sapiens EPH receptor B3 (EPHB3), mRNA.	138						integral to plasma membrane	ATP binding|ephrin receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			ACGAGGCTGACAGCGATGTGG	0.582000														25			12		0	0	1	0	0
ASAP1	50807	broad.mit.edu	37	8	131191542	131191542	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:131191542C>T	uc003yta.2	-	8	942	c.714G>A	c.(712-714)caG>caA	p.Q238Q	ASAP1_uc003ysz.2_Silent_p.Q46Q|ASAP1_uc011liw.2_Silent_p.Q231Q	NM_018482	NP_060952	Q9ULH1	ASAP1_HUMAN	Homo sapiens ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 (ASAP1), transcript variant 1, mRNA.	238					cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|SH3 domain binding|cytoskeletal adaptor activity|zinc ion binding	p.Q238H(2)		breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						TTATAAGATTCTGCAGCAGAT	0.368000														29			18		0	0	1	0	0
OR2W3	343171	broad.mit.edu	37	1	248059271	248059271	+	Missense_Mutation	SNP	A	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:248059271A>T	uc010pzb.2	+	0	383	c.383A>T	c.(382-384)aAg>aTg	p.K128M	OR2W3_uc001idp.1_Missense_Mutation_p.K128M	NM_001001957	NP_001001957	Q7Z3T1	OR2W3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily W, member 3 (OR2W3), mRNA.	128					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GCTATCTGCAAGCCCCTGCAC	0.607000														36			23		0	0	1	0	0
CEP170	9859	broad.mit.edu	37	1	243327909	243327909	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:243327909T>G	uc021plo.1	-	12	3761	c.3353A>C	c.(3352-3354)gAt>gCt	p.D1118A	CEP170_uc021plp.1_Missense_Mutation_p.D1020A|CEP170_uc021plq.1_Missense_Mutation_p.D1020A|CEP170_uc001hzv.1_Missense_Mutation_p.D496A	NM_014812	NP_055627	Q5SW79	CE170_HUMAN	Homo sapiens centrosomal protein 170kDa (CEP170), transcript variant alpha, mRNA.	1118	Targeting to centrosomes.|Targeting to microtubules.					centriole|microtubule|spindle				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			TTTGTCAGCATCAGCAAGTTC	0.473000														44			7		0	0	1	0	0
AKAP1	8165	broad.mit.edu	37	17	55193476	55193476	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:55193476G>A	uc010wnl.2	+	7	2568	c.2286G>A	c.(2284-2286)acG>acA	p.T762T	AKAP1_uc002iux.3_Silent_p.T762T|AKAP1_uc021uak.1_Silent_p.T762T|AKAP1_uc010dcm.3_Silent_p.T762T	NM_001242902	NP_001229831	Q92667	AKAP1_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 1 (AKAP1), transcript variant 2, mRNA.	762	Tudor.				blood coagulation	cytosol|integral to membrane|mitochondrial outer membrane	RNA binding|protein binding			endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14	Breast(9;5.46e-08)					CTGCAGTAACGGTCATCTGTG	0.647000														27			13		0	0	1	0	0
EDEM3	80267	broad.mit.edu	37	1	184688655	184688655	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:184688655A>G	uc010pom.2	-	9	1260	c.999T>C	c.(997-999)ctT>ctC	p.L333L	EDEM3_uc010pok.2_Silent_p.L333L|EDEM3_uc010pol.2_Non-coding_Transcript	NM_025191	NP_079467	Q9BZQ6	EDEM3_HUMAN	Homo sapiens ER degradation enhancer, mannosidase alpha-like 3 (EDEM3), mRNA.	333					post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding	p.Y333D(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TATGCACATCAAGTAGAAGAG	0.408000														27			35		0	0	1	0	0
POMT1	10585	broad.mit.edu	37	9	134385314	134385314	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:134385314G>A	uc004cav.3	+	7	832	c.630G>A	c.(628-630)acG>acA	p.T210T	POMT1_uc011mci.1_3'UTR|POMT1_uc004cax.3_Silent_p.T210T|POMT1_uc011mcj.2_Intron|POMT1_uc004cau.3_Silent_p.T210T|POMT1_uc004caw.3_Silent_p.T156T|POMT1_uc011mck.2_Silent_p.T93T|POMT1_uc011mcl.2_Silent_p.T58T|POMT1_uc011mcm.2_Silent_p.T180T	NM_007171	NP_009102	Q9Y6A1	POMT1_HUMAN	Homo sapiens protein-O-mannosyltransferase 1 (POMT1), transcript variant 1, mRNA.	210					multicellular organismal development|protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	31		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259)		GTGTGTTCACGTACGTGCTCG	0.512000														96			49		0	0	1	0	0
EXTL1	2134	broad.mit.edu	37	1	26349472	26349472	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:26349472G>A	uc001blf.3	+	0	1202	c.335G>A	c.(334-336)cGc>cAc	p.R112H		NM_004455	NP_004446	Q92935	EXTL1_HUMAN	Homo sapiens exostoses (multiple)-like 1 (EXTL1), mRNA.	112					skeletal system development	integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)		GAGACTCATCGCAGGATCCTG	0.572000														36			25		0	0	1	0	0
ARHGAP21	57584	broad.mit.edu	37	10	24886401	24886401	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:24886401C>A	uc001isb.2	-	15	3796	c.3309G>T	c.(3307-3309)gaG>gaT	p.E1103D	ARHGAP21_uc010qdb.1_Non-coding_Transcript|ARHGAP21_uc009xkl.1_Missense_Mutation_p.E1103D|ARHGAP21_uc010qdc.1_Missense_Mutation_p.E938D	NM_020824	NP_065875	Q5T5U3	RHG21_HUMAN	Homo sapiens Rho GTPase activating protein 21 (ARHGAP21), mRNA.	1102					signal transduction	Golgi membrane|cell junction|cytoplasmic vesicle membrane|cytoskeleton	GTPase activator activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						TCCTTTCCGACTCTTCCTTCG	0.398000														116			16		6.49762e-13	8.04122e-13	1	1	0
TOP2A	7153	broad.mit.edu	37	17	38562686	38562686	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:38562686G>A	uc002huq.3	-	15	2062	c.1903C>T	c.(1903-1905)Cgt>Tgt	p.R635C	RARA_uc021txb.1_Intron	NM_001067	NP_001058	P11388	TOP2A_HUMAN	Homo sapiens topoisomerase (DNA) II alpha 170kDa (TOP2A), mRNA.	635					DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|apoptotic chromosome condensation|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation	DNA topoisomerase complex (ATP-hydrolyzing)|cytoplasm|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|chromatin binding|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	AACTGGATACGATGTCTTTTC	0.348000														19			10		0	0	1	0	0
PTPRA	5786	broad.mit.edu	37	20	3002825	3002825	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:3002825C>A	uc010zqd.2	+	13	1637	c.1320C>A	c.(1318-1320)gcC>gcA	p.A440A	PTPRA_uc002whj.3_Silent_p.A429A|PTPRA_uc002whk.3_Silent_p.A420A|PTPRA_uc002whl.3_Silent_p.A420A|PTPRA_uc002whm.3_Silent_p.A196A|PTPRA_uc002whn.3_Silent_p.A420A|PTPRA_uc002who.3_Silent_p.A92A	NM_002836	NP_002827	P18433	PTPRA_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, A (PTPRA), transcript variant 1, mRNA.	429	Tyrosine-protein phosphatase 1.				axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						AGGTGAAGGCCTGTAACCCTC	0.587000														49			23		1.85244e-09	2.20857e-09	1	1	0
ENAM	10117	broad.mit.edu	37	4	71507838	71507838	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:71507838C>T	uc011caw.1	+	8	976	c.695C>T	c.(694-696)cCt>cTt	p.P232L		NM_031889	NP_114095	Q9NRM1	ENAM_HUMAN	Homo sapiens enamelin (ENAM), mRNA.	232					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			GAAGAAGATCCTCCTAAAGCA	0.413000														94			74		0	0	1	0	0
CLEC4E	26253	broad.mit.edu	37	12	8689848	8689848	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:8689848A>G	uc001quo.1	-	3	400	c.235T>C	c.(235-237)Tgt>Cgt	p.C79R		NM_014358	NP_055173	Q9ULY5	CLC4E_HUMAN	Homo sapiens C-type lectin domain family 4, member E (CLEC4E), mRNA.	79						integral to membrane	sugar binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12	Lung SC(5;0.184)					AATGGACAACAATTCTTGACT	0.443000														49			21		0	0	1	0	0
SPAG16	79582	broad.mit.edu	37	2	214239746	214239746	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:214239746G>A	uc002veq.3	+	8	937	c.845G>A	c.(844-846)cGt>cAt	p.R282H	SPAG16_uc010fuz.2_Missense_Mutation_p.R133H|SPAG16_uc002ver.3_Missense_Mutation_p.R228H|SPAG16_uc010zjk.2_Missense_Mutation_p.R188H	NM_024532	NP_078808	Q8N0X2	SPG16_HUMAN	Homo sapiens sperm associated antigen 16 (SPAG16), transcript variant 1, mRNA.	282					cilium assembly	cilium axoneme|flagellar axoneme				endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		GATCATAGTCGTGAAAAAGAA	0.323000														24			12		0	0	1	0	0
UBP1	7342	broad.mit.edu	37	3	33453088	33453088	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:33453088G>T	uc003cfq.4	-	4	1070	c.540C>A	c.(538-540)acC>acA	p.T180T	UBP1_uc003cfr.4_Silent_p.T180T|UBP1_uc010hga.3_Silent_p.T180T	NM_014517	NP_055332	Q9NZI7	UBIP1_HUMAN	Homo sapiens upstream binding protein 1 (LBP-1a) (UBP1), transcript variant 1, mRNA.	180					negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|viral genome replication	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|urinary_tract(2)	23						TGAAAGCAGAGGTGCGTTTTG	0.368000														105			10		7.48243e-07	8.52591e-07	1	1	0
NFATC4	4776	broad.mit.edu	37	14	24842970	24842970	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:24842970C>T	uc001wpc.3	+	4	1950	c.1629C>T	c.(1627-1629)atC>atT	p.I543I	NFATC4_uc010alr.3_Silent_p.I606I|NFATC4_uc010tok.2_Silent_p.I606I|NFATC4_uc010tol.2_Silent_p.I606I|NFATC4_uc010als.2_Silent_p.I556I|NFATC4_uc010too.2_Silent_p.I556I|NFATC4_uc010tom.2_Silent_p.I556I|NFATC4_uc010ton.2_Silent_p.I556I|NFATC4_uc010toq.2_Silent_p.I575I|NFATC4_uc010alt.3_Silent_p.I575I|NFATC4_uc010top.2_Silent_p.I575I|NFATC4_uc010alu.3_Silent_p.I235I|NFATC4_uc010tor.2_Silent_p.I543I|NFATC4_uc010tos.2_Silent_p.I473I|NFATC4_uc010tot.2_Silent_p.I531I|NFATC4_uc010tou.2_Silent_p.I473I|NFATC4_uc010tov.2_Silent_p.I531I|NFATC4_uc010tow.2_Silent_p.I473I|NFATC4_uc010alv.3_Silent_p.I531I|NFATC4_uc010tox.2_Silent_p.I473I|NFATC4_uc001wpd.3_Silent_p.I78I|NFATC4_uc010toy.2_Silent_p.I78I|NFATC4_uc010toz.2_Silent_p.I78I|NFATC4_uc010tpa.2_5'UTR|NFATC4_uc010tpb.2_5'UTR	NM_004554	NP_001185895	Q14934	NFAC4_HUMAN	Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4 (NFATC4), transcript variant 2, mRNA.	543	RHD.				cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		AGACGGACATCGGGCGCAAAA	0.597000														47			33		0	0	1	0	0
MDC1	9656	broad.mit.edu	37	6	30671864	30671864	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:30671864T>G	uc003nrg.4	-	9	5536	c.5096A>C	c.(5095-5097)gAa>gCa	p.E1699A	MDC1_uc003nrf.4_Intron|MDC1_uc011dmp.1_Missense_Mutation_p.E1306A	NM_014641	NP_055456	Q14676	MDC1_HUMAN	Homo sapiens mediator of DNA-damage checkpoint 1 (MDC1), mRNA.	1699	Required for nuclear localization (NLS2).				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						AGATTGGAATTCAGGGGTGGT	0.557000								Other conserved DNA damage response genes						79			6		0	0	1	0	0
PDK3	5165	broad.mit.edu	37	X	24552111	24552111	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:24552111G>T	uc004dbg.3	+	10	1372	c.1143G>T	c.(1141-1143)aaG>aaT	p.K381N	PDK3_uc004dbh.3_Missense_Mutation_p.K381N	NM_005391	NP_005382	Q15120	PDK3_HUMAN	Homo sapiens pyruvate dehydrogenase kinase, isozyme 3 (PDK3), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	381					glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	ATP binding|protein binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity			NS(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						GCCATTACAAGACCACGCCTG	0.418000														21			13		2.68362e-12	3.30521e-12	1	1	0
TRIP12	9320	broad.mit.edu	37	2	230672573	230672573	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:230672573T>C	uc002vpx.1	-	16	2456	c.2347A>G	c.(2347-2349)Atg>Gtg	p.M783V	TRIP12_uc021vxw.1_Missense_Mutation_p.M741V|TRIP12_uc002vpy.1_Missense_Mutation_p.M438V|TRIP12_uc002vpw.1_Missense_Mutation_p.M735V|TRIP12_uc010zlz.1_Intron|TRIP12_uc010fxh.1_Missense_Mutation_p.M741V	NM_004238	NP_004229	Q14669	TRIPC_HUMAN	Homo sapiens thyroid hormone receptor interactor 12 (TRIP12), mRNA.	735	WWE.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		AAACATGGCATAAGTTCACTG	0.343000														16			6		0	0	1	0	0
IQGAP1	8826	broad.mit.edu	37	15	91030306	91030306	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:91030306G>A	uc002bpl.1	+	31	4246	c.4145G>A	c.(4144-4146)cGa>cAa	p.R1382Q	IQGAP1_uc010uqg.1_5'Flank	NM_003870	NP_003861	P46940	IQGA1_HUMAN	Homo sapiens IQ motif containing GTPase activating protein 1 (IQGAP1), mRNA.	1382	C2.				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	GTPase inhibitor activity|Ras GTPase activator activity|calmodulin binding|protein phosphatase binding			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			ATGGATGCTCGAACCATCTTA	0.463000														45			19		0	0	1	0	0
KIF11	3832	broad.mit.edu	37	10	94399627	94399627	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:94399627C>A	uc001kic.3	+	16	2545	c.2237C>A	c.(2236-2238)cCa>cAa	p.P746Q		NM_004523	NP_004514	P52732	KIF11_HUMAN	Homo sapiens kinesin family member 11 (KIF11), mRNA.	746					blood coagulation|cell division|microtubule-based movement|spindle assembly involved in mitosis	chromatin remodeling complex|cytosol|kinesin complex|microtubule|spindle pole	ATP binding|microtubule motor activity|protein kinase binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ATACAGAAACCACTTAGTAGT	0.323000														43			32		1.06801e-11	1.3078e-11	1	1	0
SSTR3	6753	broad.mit.edu	37	22	37603286	37603286	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:37603286C>T	uc003ara.3	-	1	619	c.557G>A	c.(556-558)cGc>cAc	p.R186H	SSTR3_uc003arb.3_Missense_Mutation_p.R186H|SSTR3_uc021wos.1_Missense_Mutation_p.R186H	NM_001051	NP_001042	P32745	SSR3_HUMAN	Homo sapiens somatostatin receptor 3 (SSTR3), mRNA.	186					G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation	integral to plasma membrane|nonmotile primary cilium	somatostatin receptor activity			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	14						GCTCATGCCGCGGGGCACTCC	0.726000														8			4		0	0	1	0	0
TMEM47	83604	broad.mit.edu	37	X	34657422	34657422	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:34657422G>T	uc004ddh.3	-	1	568	c.309C>A	c.(307-309)atC>atA	p.I103I	TMEM47_uc010ngs.3_Non-coding_Transcript	NM_031442	NP_113630	Q9BQJ4	TMM47_HUMAN	Homo sapiens transmembrane protein 47 (TMEM47), mRNA.	103						integral to membrane				breast(1)|kidney(1)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						ATCCCACGCAGATAGAAATCA	0.428000														6			3		0.00024832	0.000267289	1	1	0
TPX2	22974	broad.mit.edu	37	20	30365440	30365440	+	Splice_Site	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:30365440C>A	uc002wwp.1	+	9	1580	c.882_splice	c.e9+1	p.P294_splice	TPX2_uc010gdv.1_Splice_Site_p.P294_splice	NM_012112	NP_036244	Q9ULW0	TPX2_HUMAN	Homo sapiens TPX2, microtubule-associated, homolog (Xenopus laevis) (TPX2), mRNA.	294					activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization	cytoplasm|microtubule|nucleus|spindle pole	ATP binding|GTP binding|protein kinase binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)			CCTTCATCTCCTGTAAGTTGA	0.353000														28			22		5.35356e-11	6.51008e-11	1	1	0
IPO9	55705	broad.mit.edu	37	1	201838754	201838754	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:201838754A>G	uc001gwz.3	+	16	2091	c.2041A>G	c.(2041-2043)Aca>Gca	p.T681A		NM_018085	NP_060555	Q96P70	IPO9_HUMAN	Homo sapiens importin 9 (IPO9), mRNA.	681					protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity			cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						AGTACGAAATACAAAGCCTCC	0.483000														39			38		0	0	1	0	0
LY9	4063	broad.mit.edu	37	1	160786519	160786519	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:160786519C>T	uc001fwu.3	+	4	1258	c.1208C>T	c.(1207-1209)gCt>gTt	p.A403V	LY9_uc001fwv.3_Missense_Mutation_p.A403V|LY9_uc001fww.3_Intron|LY9_uc001fwy.1_Intron|LY9_uc001fwz.3_Missense_Mutation_p.A55V	NM_002348	NP_002339	Q9HBG7	LY9_HUMAN	Homo sapiens lymphocyte antigen 9 (LY9), transcript variant 1, mRNA.	403	Ig-like C2-type 2.				cell adhesion|immunoglobulin mediated immune response	integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			CAGAAGGAAGCTGTTGTGTCC	0.557000														27			25		0	0	1	0	0
DGKK	139189	broad.mit.edu	37	X	50144082	50144082	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:50144082C>T	uc010njr.2	-	7	1408	c.1364G>A	c.(1363-1365)cGc>cAc	p.R455H		NM_001013742	NP_001013764	Q5KSL6	DGKK_HUMAN	Homo sapiens diacylglycerol kinase, kappa (DGKK), mRNA.	455					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	p.R251H(1)		central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					GACTGATGAGCGATGGCTTCT	0.488000														4			10		0	0	1	0	0
CNGA3	1261	broad.mit.edu	37	2	99013275	99013275	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:99013275G>A	uc010fij.3	+	7	1795	c.1654G>A	c.(1654-1656)Ggg>Agg	p.G552R	CNGA3_uc002syt.3_Missense_Mutation_p.G548R|CNGA3_uc002syu.3_Missense_Mutation_p.G530R			Q16281	CNGA3_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 3 (CNGA3), transcript variant 1, mRNA.	548					signal transduction|visual perception	integral to membrane	cGMP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						CAGCTACTTCGGGGAGATCAG	0.562000														133			9		0	0	1	0	0
SIGMAR1	10280	broad.mit.edu	37	9	34636994	34636994	+	Splice_Site	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:34636994C>A	uc003zvb.3	-	3	519	c.445_splice	c.e3+1	p.G149_splice	SIGMAR1_uc003zva.4_Splice_Site_p.G129_splice|SIGMAR1_uc003zuz.3_Splice_Site_p.G60_splice|SIGMAR1_uc003zvd.3_Splice_Site|SIGMAR1_uc003zvc.3_Intron|SIGMAR1_uc011loo.1_Splice_Site_p.G149_splice	NM_005866	NP_005857	Q99720	SGMR1_HUMAN	Homo sapiens sigma non-opioid intracellular receptor 1 (SIGMAR1), transcript variant 1, mRNA.	149					ergosterol biosynthetic process|lipid transport	cell junction|endoplasmic reticulum membrane|growth cone|integral to plasma membrane|lipid particle|nuclear inner membrane|nuclear outer membrane	C-8 sterol isomerase activity|drug binding			large_intestine(1)|lung(1)	2					Dextromethorphan(DB00514)	TCTTACCCACCTGGGTAGAAG	0.592000														24			4		0.00909568	0.00940365	1	1	0
UBN1	29855	broad.mit.edu	37	16	4909942	4909942	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:4909942C>T	uc002cyb.3	+	5	983	c.644C>T	c.(643-645)tCg>tTg	p.S215L	UBN1_uc010uxw.2_Missense_Mutation_p.S215L|UBN1_uc002cyc.3_Missense_Mutation_p.S215L	NM_001079514	NP_058632	Q9NPG3	UBN1_HUMAN	Homo sapiens ubinuclein 1 (UBN1), transcript variant 2, mRNA.	215	Lys-rich.				chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						GAGAAGAAATCGAAAAAGTCC	0.453000														36			15		0	0	1	0	0
LRRC16B	90668	broad.mit.edu	37	14	24528897	24528897	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:24528897T>C	uc001wlj.2	+	21	1981	c.1824T>C	c.(1822-1824)aaT>aaC	p.N608N	LRRC16B_uc001wlk.2_5'Flank	NM_138360	NP_612369	Q8ND23	LR16B_HUMAN	Homo sapiens leucine rich repeat containing 16B (LRRC16B), mRNA.	608										breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		ATCGGAACAATACATCTGCCC	0.592000														25			8		0	0	1	0	0
MLL2	8085	broad.mit.edu	37	12	49445789	49445789	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:49445789C>A	uc001rta.4	-	9	1677	c.1677G>T	c.(1675-1677)gaG>gaT	p.E559D		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	559	15 X 5 AA repeats of S/P-P-P-E/P-E/A.|Pro-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						TGGGCAATTCCTCAGGTGGCG	0.597000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				73			54		1.14385e-22	1.48677e-22	1	1	0
CUBN	8029	broad.mit.edu	37	10	17107602	17107602	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:17107602C>A	uc001ioo.3	-	21	3096	c.3044G>T	c.(3043-3045)aGc>aTc	p.S1015I		NM_001081	NP_001072	O60494	CUBN_HUMAN	Homo sapiens cubilin (intrinsic factor-cobalamin receptor) (CUBN), mRNA.	1015	CUB 5.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	p.T1014K(1)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GTTACCACTGCTTGTGAGAGA	0.413000														104			74		9.42754e-34	1.24803e-33	1	1	0
ADAMTS16	170690	broad.mit.edu	37	5	5235133	5235133	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:5235133G>A	uc003jdl.3	+	12	1995	c.1857G>A	c.(1855-1857)tcG>tcA	p.S619S	ADAMTS16_uc003jdk.1_Silent_p.S619S|ADAMTS16_uc010itk.1_Non-coding_Transcript	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 16 (ADAMTS16), mRNA.	619	TSP type-1 1.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						CCAGGCCATCGCATGGAGGGA	0.433000														28			12		0	0	1	0	0
POLR3A	11128	broad.mit.edu	37	10	79742556	79742556	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:79742556C>A	uc001jzn.3	-	26	3582	c.3449G>T	c.(3448-3450)aGa>aTa	p.R1150I		NM_007055	NP_008986	O14802	RPC1_HUMAN	Homo sapiens polymerase (RNA) III (DNA directed) polypeptide A, 155kDa (POLR3A), mRNA.	1150					innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			GATGGAATATCTCACTGTCTC	0.507000														38			6		0.0215528	0.0220531	1	1	0
BPTF	2186	broad.mit.edu	37	17	65955939	65955939	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:65955939A>G	uc002jgf.3	+	23	8270	c.8209A>G	c.(8209-8211)Aag>Gag	p.K2737E	BPTF_uc002jge.3_Missense_Mutation_p.K2720E|BPTF_uc021uca.1_Missense_Mutation_p.K537E|BPTF_uc002jgg.3_Missense_Mutation_p.K394E|BPTF_uc002jgh.3_Missense_Mutation_p.K196E	NM_182641	NP_872579	Q12830	BPTF_HUMAN	Homo sapiens bromodomain PHD finger transcription factor (BPTF), transcript variant 1, mRNA.	2863					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex|cytoplasm	sequence-specific DNA binding|transcription factor binding|zinc ion binding	p.T2736T(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			AAAGGAAACTAAGAAGGACAC	0.388000														58			17		0	0	1	0	0
EHBP1L1	254102	broad.mit.edu	37	11	65351009	65351009	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:65351009G>A	uc001oeo.4	+	8	3131	c.2866G>A	c.(2866-2868)Gaa>Aaa	p.E956K		NM_001099409	NP_001092879	Q8N3D4	EH1L1_HUMAN	Homo sapiens EH domain binding protein 1-like 1 (EHBP1L1), mRNA.	956										central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						GGGGGCCCAGGAAGCAGAGAT	0.542000														25			11		0	0	1	0	0
GAB4	128954	broad.mit.edu	37	22	17447227	17447227	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:17447227C>A	uc002zlw.3	-	5	1159	c.1051G>T	c.(1051-1053)Gac>Tac	p.D351Y	GAB4_uc010gqs.1_3'UTR	NM_001037814	NP_001032903	Q2WGN9	GAB4_HUMAN	Homo sapiens GRB2-associated binding protein family, member 4 (GAB4), mRNA.	351										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				GCAATGCTGTCTGACAGGCCC	0.527000														18			7		0.0293803	0.0299714	1	1	0
PNPLA5	150379	broad.mit.edu	37	22	44277523	44277523	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:44277523C>A	uc003beg.3	-	7	1247	c.1114G>T	c.(1114-1116)Gac>Tac	p.D372Y	PNPLA5_uc003beh.3_Missense_Mutation_p.D258Y|PNPLA5_uc021wqw.1_Missense_Mutation_p.D372Y|PNPLA5_uc021wqx.1_Missense_Mutation_p.D258Y|PNPLA5_uc011aqc.2_Missense_Mutation_p.D232Y	NM_138814	NP_620169	Q7Z6Z6	PLPL5_HUMAN	Homo sapiens patatin-like phospholipase domain containing 5 (PNPLA5), transcript variant 1, mRNA.	372					lipid catabolic process		hydrolase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	16		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				CACCACAAGTCCGCCGGCACA	0.662000														5			5		1.23904e-05	1.3743e-05	1	1	0
SPICE1	152185	broad.mit.edu	37	3	113184616	113184616	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:113184616G>A	uc003eag.4	-	10	1462	c.1171C>T	c.(1171-1173)Cgt>Tgt	p.R391C	SPICE1_uc003eaf.4_Non-coding_Transcript|SPICE1_uc003eah.1_Missense_Mutation_p.R287C	NM_144718	NP_653319	Q8N0Z3	SPICE_HUMAN	Homo sapiens spindle and centriole associated protein 1 (SPICE1), mRNA.	391					cell division|mitosis	centriole|spindle	protein binding			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(3)|large_intestine(9)|lung(10)|ovary(2)|skin(2)|urinary_tract(1)	33						ACTTCTTTACGTAGCTGGATC	0.378000														40			20		0	0	1	0	0
NINL	22981	broad.mit.edu	37	20	25434265	25434265	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:25434265G>A	uc002wux.1	-	23	4045	c.3971C>T	c.(3970-3972)aCg>aTg	p.T1324M	NINL_uc010gdn.1_Missense_Mutation_p.T975M|NINL_uc002wuw.1_Missense_Mutation_p.T115M	NM_025176	NP_079452	Q9Y2I6	NINL_HUMAN	Homo sapiens ninein-like (NINL), mRNA.	1324					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						GTCGGACTTCGTGTTCTTTTC	0.552000														29			12		0	0	1	0	0
TRAM1L1	133022	broad.mit.edu	37	4	118005516	118005516	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:118005516C>A	uc003ibv.4	-	0	1221	c.1034G>T	c.(1033-1035)aGa>aTa	p.R345I		NM_152402	NP_689615	Q8N609	TR1L1_HUMAN	Homo sapiens translocation associated membrane protein 1-like 1 (TRAM1L1), mRNA.	345					protein transport|transmembrane transport	endoplasmic reticulum membrane|integral to membrane				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						GTTTTCTGTTCTTTTTTTAGA	0.388000														123			70		8.73484e-25	1.14156e-24	1	1	0
PODXL	5420	broad.mit.edu	37	7	131196042	131196042	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:131196042C>T	uc003vqw.4	-	1	509	c.251G>A	c.(250-252)gGt>gAt	p.G84D	PODXL_uc003vqx.4_Missense_Mutation_p.G84D	NM_001018111	NP_001018121	O00592	PODXL_HUMAN	Homo sapiens podocalyxin-like (PODXL), transcript variant 1, mRNA.	84	Thr-rich.				cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					ACTGGATACACCAAGGGTGGT	0.582000														72			35		0	0	1	0	0
CSPP1	79848	broad.mit.edu	37	8	68107748	68107748	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:68107748C>T	uc003xxi.3	+	30	3722	c.3691C>T	c.(3691-3693)Cag>Tag	p.Q1231*	ARFGEF1_uc003xxl.1_Intron|CSPP1_uc003xxj.3_Nonsense_Mutation_p.Q1196*|CSPP1_uc003xxk.3_Nonsense_Mutation_p.Q851*|CSPP1_uc010lyw.3_3'UTR	NM_024790	NP_079066	Q1MSJ5	CSPP1_HUMAN	Homo sapiens centrosome and spindle pole associated protein 1 (CSPP1), mRNA.	1231						centrosome|microtubule|spindle				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			CATGGCAGAGCAGCTGAACCA	0.522000														62			39		0	0	1	0	0
NKRF	55922	broad.mit.edu	37	X	118723315	118723315	+	Nonstop_Mutation	SNP	T	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:118723315T>A	uc022cdk.1	-	3	2340	c.2118A>T	c.(2116-2118)tgA>tgT	p.*706C	NKRF_uc004erq.3_Nonstop_Mutation_p.*691C|NKRF_uc004err.3_Nonstop_Mutation_p.*691C	NM_001173487	NP_060014	O15226	NKRF_HUMAN	Homo sapiens NFKB repressing factor (NKRF), transcript variant 1, mRNA.	0					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|double-stranded RNA binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	30						TAGTAAGATCTCAATTTGCTT	0.383000														51			12		0	0	1	0	0
MTMR14	64419	broad.mit.edu	37	3	9714435	9714435	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:9714435G>A	uc003brz.3	+	6	895	c.744G>A	c.(742-744)ccG>ccA	p.P248P	MTMR14_uc003bsa.3_Silent_p.P248P|MTMR14_uc003bsb.3_Silent_p.P248P|MTMR14_uc011ath.2_Non-coding_Transcript|MTMR14_uc010hcl.3_Intron|MTMR14_uc003bsc.3_Non-coding_Transcript	NM_001077525	NP_001070993	Q8NCE2	MTMRE_HUMAN	Homo sapiens myotubularin related protein 14 (MTMR14), transcript variant 2, mRNA.	248						perinuclear region of cytoplasm|ruffle	phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(2)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	21	Medulloblastoma(99;0.227)					TCTCCATCCCGTATCCAGGTA	0.552000														58			35		0	0	1	0	0
MAGEE1	57692	broad.mit.edu	37	X	75649430	75649430	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:75649430G>A	uc004ecm.2	+	0	1385	c.1107G>A	c.(1105-1107)ccG>ccA	p.P369P		NM_020932	NP_065983	Q9HCI5	MAGE1_HUMAN	Homo sapiens melanoma antigen family E, 1 (MAGEE1), mRNA.	369	Pro-rich.					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						CCTCTGTGCCGCCCACCGCCT	0.672000														15			7		0	0	1	0	0
NCLN	56926	broad.mit.edu	37	19	3192602	3192602	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:3192602G>A	uc002lxi.3	+	1	473	c.319G>A	c.(319-321)Gcc>Acc	p.A107T	NCLN_uc002lxh.1_Non-coding_Transcript	NM_020170	NP_064555	Q969V3	NCLN_HUMAN	Homo sapiens nicalin (NCLN), mRNA.	107					proteolysis|regulation of signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	peptidase activity|protein binding			kidney(1)|lung(3)|skin(1)	5		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.83e-113)|Epithelial(107;1.65e-111)|all cancers(105;1.53e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00139)|STAD - Stomach adenocarcinoma(1328;0.18)		GTCGGCGGGCGCCGTGGTCAT	0.716000														8			11		0	0	1	0	0
SLC1A1	6505	broad.mit.edu	37	9	4567705	4567705	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:4567705G>A	uc003zij.2	+	5	773	c.520G>A	c.(520-522)Gat>Aat	p.D174N	SPATA6L_uc003zik.3_Intron	NM_004170	NP_004161	P43005	EAA3_HUMAN	Homo sapiens solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1 (SLC1A1), mRNA.	174					D-aspartate import|L-glutamate import|synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|pancreas(1)|skin(1)	15		Acute lymphoblastic leukemia(2;0.0359)|Breast(48;0.0457)		GBM - Glioblastoma multiforme(50;0.0124)|Lung(218;0.183)	L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)	GCCTCCCAGCGATCCAGAGAT	0.413000														10			6		0	0	1	0	0
GRPR	2925	broad.mit.edu	37	X	16170513	16170513	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:16170513C>T	uc004cxj.3	+	2	1553	c.900C>T	c.(898-900)caC>caT	p.H300H		NM_005314	NP_005305	P30550	GRPR_HUMAN	Homo sapiens gastrin-releasing peptide receptor (GRPR), mRNA.	300					cell proliferation	integral to plasma membrane	bombesin receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(3)|stomach(1)|upper_aerodigestive_tract(3)	25	Hepatocellular(33;0.183)					CCATGCTCCACTTTGTCACCA	0.557000														87			53		0	0	1	0	0
C19orf73	55150	broad.mit.edu	37	19	49621655	49621655	+	Splice_Site	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:49621655G>A	uc002pmq.4	-	1	744	c.626_splice	c.e1+1		LIN7B_uc002pmp.3_3'UTR|PPFIA3_uc002pmr.3_5'Flank|PPFIA3_uc010yai.2_5'Flank	NM_018111	NP_060581	Q9NVV2	CS073_HUMAN	Homo sapiens chromosome 19 open reading frame 73 (C19orf73), mRNA.											large_intestine(1)|lung(2)	3						ACGTTCACGTGCACTCTCTTC	0.522000														107			64		0	0	1	0	0
GUSB	2990	broad.mit.edu	37	7	65435343	65435343	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:65435343C>T	uc003tun.3	-	8	1533	c.1402G>A	c.(1402-1404)Gct>Act	p.A468T	GUSB_uc011kdt.2_Missense_Mutation_p.A322T	NM_000181	NP_000172	P08236	BGLR_HUMAN	Homo sapiens glucuronidase, beta (GUSB), mRNA.	468					glycosaminoglycan catabolic process	lysosome	beta-glucuronidase activity|cation binding			breast(1)|cervix(2)|kidney(2)|large_intestine(4)|lung(10)|skin(1)	20						TTGGTGTGAGCGATCACCATC	0.572000														18			32		0	0	1	0	0
AHRR	57491	broad.mit.edu	37	5	432971	432971	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:432971G>A	uc003jav.3	+	10	1130	c.1087G>A	c.(1087-1089)Gct>Act	p.A363T	AHRR_uc003jaw.3_Missense_Mutation_p.A345T|AHRR_uc010isy.3_Missense_Mutation_p.A191T|AHRR_uc010isz.3_Missense_Mutation_p.A341T|AHRR_uc003jax.3_Missense_Mutation_p.A104T|AHRR_uc003jay.3_Missense_Mutation_p.A201T|AHRR_uc003jaz.3_5'UTR	NM_020731	NP_065782	A9YTQ3	AHRR_HUMAN	Homo sapiens aryl-hydrocarbon receptor repressor (AHRR), transcript variant 1, mRNA.	345					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			ACAGACTGACGCTGGCCGATG	0.657000														16			8		0	0	1	0	0
CCDC122	160857	broad.mit.edu	37	13	44432972	44432972	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:44432972G>A	uc010tfn.1	-	4	816	c.617C>T	c.(616-618)aCt>aTt	p.T206I	CCDC122_uc010acf.3_Missense_Mutation_p.T206I	NM_144974	NP_659411	Q5T0U0	CC122_HUMAN	Homo sapiens coiled-coil domain containing 122 (CCDC122), mRNA.	206										endometrium(1)|large_intestine(2)|lung(5)|stomach(1)	9		Lung NSC(96;7.5e-06)|Breast(139;0.00765)|Hepatocellular(98;0.00826)|Prostate(109;0.0143)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000767)|BRCA - Breast invasive adenocarcinoma(63;0.128)		AAGAAAACAAGTTTTTTCAAT	0.249000														9			5		0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152507377	152507377	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:152507377C>T	uc021vrb.1	-	50	6967	c.6938G>A	c.(6937-6939)cGa>cAa	p.R2313Q	NEB_uc002txu.3_Missense_Mutation_p.R2313Q|NEB_uc021vrc.1_Missense_Mutation_p.R2313Q|NEB_uc010fnx.3_Missense_Mutation_p.R2313Q|NEB_uc021vrd.1_Missense_Mutation_p.R2313Q	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	2313					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		AAGTTGCTTTCGGTAGCCTTG	0.393000														84			56		0	0	1	0	0
TEAD1	7003	broad.mit.edu	37	11	12904600	12904600	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:12904600C>T	uc021qdx.1	+	8	1247	c.627C>T	c.(625-627)cgC>cgT	p.R209R	TEAD1_uc001mkk.4_Silent_p.R113R|TEAD1_uc009ygl.3_Silent_p.R88R	NM_021961	NP_068780	P28347	TEAD1_HUMAN	Homo sapiens TEA domain family member 1 (SV40 transcriptional enhancer factor) (TEAD1), mRNA.	209	Transcriptional activation (Potential).				hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)	17				Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236)		GGCAAGGTCGCTCCATTGGCA	0.577000														59			28		0	0	1	0	0
TBXA2R	6915	broad.mit.edu	37	19	3600109	3600109	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:3600109G>A	uc002lyg.2	-	1	911	c.524C>T	c.(523-525)aCc>aTc	p.T175I	TBXA2R_uc021umv.1_Missense_Mutation_p.T175I	NM_001060	NP_001051	P21731	TA2R_HUMAN	Homo sapiens thromboxane A2 receptor (TBXA2R), transcript variant a, mRNA.	175					platelet activation	integral to plasma membrane	guanyl-nucleotide exchange factor activity|protein binding|thromboxane A2 receptor activity			kidney(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	8		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	Ridogrel(DB01207)	GTATTGCACGGTGTAGCGACC	0.751000														13			6		0	0	1	0	0
PLOD2	5352	broad.mit.edu	37	3	145794589	145794589	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:145794589G>A	uc003evr.1	-	14	2163	c.1657C>T	c.(1657-1659)Cag>Tag	p.Q553*	PLOD2_uc003evq.1_Nonsense_Mutation_p.Q213*|PLOD2_uc011bnm.1_Nonsense_Mutation_p.Q498*|PLOD2_uc003evs.1_Nonsense_Mutation_p.Q532*	NM_182943	NP_891988	O00469	PLOD2_HUMAN	Homo sapiens procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2 (PLOD2), transcript variant 1, mRNA.	532					protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29					Vitamin C(DB00126)	TCAAAAATCTGCCAGAGGTCA	0.289000														90			7		0	0	1	0	0
DISP1	84976	broad.mit.edu	37	1	223175814	223175814	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:223175814G>A	uc001hnu.2	+	9	1401	c.1075G>A	c.(1075-1077)Gcc>Acc	p.A359T		NM_032890	NP_116279	Q96F81	DISP1_HUMAN	Homo sapiens dispatched homolog 1 (Drosophila) (DISP1), mRNA.	359					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		AAACTACATCGCCATTCTGAA	0.498000											OREG0014268|OREG0026708	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		51			52		0	0	1	0	0
SCAP	22937	broad.mit.edu	37	3	47460252	47460252	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:47460252G>A	uc003crh.1	-	13	2277	c.2022C>T	c.(2020-2022)gaC>gaT	p.D674D	SCAP_uc011baz.1_Silent_p.D419D|SCAP_uc003crg.2_Silent_p.D282D	NM_012235	NP_036367	Q12770	SCAP_HUMAN	Homo sapiens SREBF chaperone (SCAP), mRNA.	674					cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	ER to Golgi transport vesicle membrane|Golgi membrane|endoplasmic reticulum membrane|integral to membrane	unfolded protein binding			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		CACTGCGGCCGTCCTGAGGGT	0.701000														9			3		0	0	1	0	0
C5orf4	10826	broad.mit.edu	37	5	154200982	154200982	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:154200982G>A	uc003lvs.4	-	7	854	c.683C>T	c.(682-684)tCc>tTc	p.S228F	C5orf4_uc011dde.2_Missense_Mutation_p.S205F	NM_032385	NP_115761	Q96IV6	CE004_HUMAN	Homo sapiens chromosome 5 open reading frame 4 (C5orf4), mRNA.	228					fatty acid biosynthetic process	integral to membrane	iron ion binding|oxidoreductase activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)	14	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TAGCATGTTGGAGACCTGCAA	0.522000														13			5		0	0	1	0	0
C14orf43	91748	broad.mit.edu	37	14	74205452	74205452	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:74205452G>A	uc010tud.1	-	0	1507	c.1260C>T	c.(1258-1260)ggC>ggT	p.G420G	C14orf43_uc001xot.3_Silent_p.G420G|C14orf43_uc001xou.3_Silent_p.G420G|C14orf43_uc010arw.2_Non-coding_Transcript	NM_194278	NP_919254	Q6PJG2	CN043_HUMAN	Homo sapiens chromosome 14 open reading frame 43 (C14orf43), transcript variant 1, mRNA.	420					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.Q408fs*65(1)		NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(4)	37				BRCA - Breast invasive adenocarcinoma(234;0.00358)|KIRC - Kidney renal clear cell carcinoma(182;0.0878)|OV - Ovarian serous cystadenocarcinoma(108;0.115)		CTCGCTCCCGGCCATTGGGTG	0.662000														19			14		0	0	1	0	0
UBA7	7318	broad.mit.edu	37	3	49850778	49850778	+	Silent	SNP	G	A	A	rs144077688	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49850778G>A	uc003cxr.3	-	2	435	c.264C>T	c.(262-264)gcC>gcT	p.A88A		NM_003335	NP_003326	P41226	UBA7_HUMAN	Homo sapiens ubiquitin-like modifier activating enzyme 7 (UBA7), mRNA.	88	2 approximate repeats.				ISG15-protein conjugation|negative regulation of type I interferon production	cytosol	ATP binding|ISG15 activating enzyme activity|ligase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		GAGAGGCCTCGGCTCTGCTCC	0.587000														46			4		0	0	1	0	0
HOXD12	3238	broad.mit.edu	37	2	176964817	176964817	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:176964817G>A	uc010zev.1	+	0	288	c.288G>A	c.(286-288)gaG>gaA	p.E96E	HOXD12_uc021vsp.1_Silent_p.E96E	NM_021193	NP_067016	P35452	HXD12_HUMAN	Homo sapiens homeobox D12 (HOXD12), mRNA.	96						nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678)		GACCCGAAGAGCAGGCTAAGT	0.706000														7			4		0	0	1	0	0
PARP8	79668	broad.mit.edu	37	5	50123879	50123879	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:50123879C>A	uc003jon.4	+	20	2261	c.2079C>A	c.(2077-2079)acC>acA	p.T693T	PARP8_uc011cpz.2_Silent_p.T585T|PARP8_uc003joo.3_Silent_p.T693T|PARP8_uc003jop.3_Silent_p.T651T	NM_001178055	NP_078891	Q8N3A8	PARP8_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 8 (PARP8), transcript variant 1, mRNA.	693	PARP catalytic.					intracellular	NAD+ ADP-ribosyltransferase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				TTGGAAGCACCTTTGCATTTC	0.393000														71			7		0.307466	0.308579	1	1	0
IPO7	10527	broad.mit.edu	37	11	9452542	9452542	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:9452542C>T	uc001mho.3	+	15	2015	c.1873C>T	c.(1873-1875)Cat>Tat	p.H625Y		NM_006391	NP_006382	O95373	IPO7_HUMAN	Homo sapiens importin 7 (IPO7), mRNA.	625					interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	Ran GTPase binding|protein transporter activity|small GTPase regulator activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		AGTTGAAGATCATAAAGAGGT	0.383000														33			24		0	0	1	0	0
LY6G6F	259215	broad.mit.edu	37	6	31675698	31675698	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31675698C>A	uc003nwb.1	+	2	433	c.433C>A	c.(433-435)Ctg>Atg	p.L145M	ABHD16A_uc011dnz.2_Intron|LY6G6F_uc003nwa.1_Missense_Mutation_p.L145M	NM_001003693	NP_001003693	Q5SQ64	LY66F_HUMAN	Homo sapiens lymphocyte antigen 6 complex, locus G6F (LY6G6F), mRNA.	145						integral to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)	12						CAATGTCCTCCTGTGCTCTGT	0.607000														66			8		5.18039e-06	5.80246e-06	1	1	0
KIRREL	55243	broad.mit.edu	37	1	158064462	158064462	+	Missense_Mutation	SNP	G	A	A	rs147886424		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:158064462G>A	uc001frn.4	+	14	2230	c.1826G>A	c.(1825-1827)cGt>cAt	p.R609H	KIRREL_uc010pib.2_Missense_Mutation_p.R509H|KIRREL_uc009wsq.3_Missense_Mutation_p.R445H|KIRREL_uc001fro.4_Missense_Mutation_p.R423H|hCG_1995134_uc001frp.2_5'Flank	NM_018240	NP_060710	Q96J84	KIRR1_HUMAN	Homo sapiens kin of IRRE like (Drosophila) (KIRREL), mRNA.	609						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					TACAACGTGCGTGCCCATGAA	0.622000														30			18		0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62295065	62295065	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:62295065G>A	uc001ntl.3	-	4	7124	c.6824C>T	c.(6823-6825)tCa>tTa	p.S2275L	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	2275					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CTTGGGTCCTGAGACATCAAC	0.512000														188			89		0	0	1	0	0
PLEKHM3	389072	broad.mit.edu	37	2	208841666	208841666	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:208841666C>T	uc002vcl.2	-	2	1745	c.1255G>A	c.(1255-1257)Gat>Aat	p.D419N	PLEKHM3_uc002vcm.2_Missense_Mutation_p.D419N	NM_001080475	NP_001073944	Q6ZWE6	PKHM3_HUMAN	Homo sapiens pleckstrin homology domain containing, family M, member 3 (PLEKHM3), mRNA.	419	PH 2.				intracellular signal transduction		metal ion binding	p.L418L(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TCGCAGCCATCCAGGTTGTCC	0.552000														16			15		0	0	1	0	0
SOWAHB	345079	broad.mit.edu	37	4	77817433	77817433	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:77817433G>A	uc003hki.3	-	0	1570	c.1570C>T	c.(1570-1572)Cgg>Tgg	p.R524W		NM_001029870	NP_001025041	A6NEL2	ANR56_HUMAN	Homo sapiens sosondowah ankyrin repeat domain family member B (SOWAHB), mRNA.	524																	GGTGGGCGCCGACTTCTTTTC	0.547000														21			20		0	0	1	0	0
RSPH4A	345895	broad.mit.edu	37	6	116949302	116949302	+	Nonsense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:116949302G>T	uc003pxe.2	+	2	1577	c.1432G>T	c.(1432-1434)Gga>Tga	p.G478*	RSPH4A_uc010kee.2_Nonsense_Mutation_p.G478*	NM_001010892	NP_001010892	Q5TD94	RSH4A_HUMAN	Homo sapiens radial spoke head 4 homolog A (Chlamydomonas) (RSPH4A), transcript variant 1, mRNA.	478					cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton|radial spoke				breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						ACCTTTCCCAGGAAATGAGAG	0.418000									Kartagener syndrome					40			14		0.000219431	0.000236831	1	1	0
BTN2A1	11120	broad.mit.edu	37	6	26465472	26465472	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:26465472C>A	uc003nib.2	+	4	1020	c.772C>A	c.(772-774)Ctg>Atg	p.L258M	BTN2A1_uc021yni.1_Missense_Mutation_p.L258M|BTN2A1_uc003nic.2_Missense_Mutation_p.L258M|BTN2A1_uc011dko.2_Missense_Mutation_p.L197M	NM_007049	NP_001184162	Q7KYR7	BT2A1_HUMAN	Homo sapiens butyrophilin, subfamily 2, member A1 (BTN2A1), transcript variant 1, mRNA.	258					lipid metabolic process	integral to plasma membrane				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(3)	27						TGTGGTTATTCTGATGATACC	0.428000														88			43		1.7489e-18	2.24252e-18	1	1	0
DPP9	91039	broad.mit.edu	37	19	4714097	4714097	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:4714097G>A	uc002mba.3	-	3	567	c.309C>T	c.(307-309)taC>taT	p.Y103Y		NM_139159	NP_631898	Q86TI2	DPP9_HUMAN	Homo sapiens dipeptidyl-peptidase 9 (DPP9), mRNA.	74					proteolysis	cytosol|membrane	aminopeptidase activity|serine-type peptidase activity			cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)		GCTTACCCAGGTAGTAGAGGC	0.622000														2			4		0	0	1	0	0
C14orf102	55051	broad.mit.edu	37	14	90759193	90759193	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:90759193C>T	uc001xyi.2	-	8	1923	c.1690G>A	c.(1690-1692)Gag>Aag	p.E564K	C14orf102_uc010atp.1_Missense_Mutation_p.E69K|C14orf102_uc001xyj.2_Missense_Mutation_p.E333K	NM_017970	NP_060440	Q9H7Z3	CN102_HUMAN	Homo sapiens chromosome 14 open reading frame 102 (C14orf102), mRNA.	564							protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(10)|lung(12)|ovary(5)|prostate(2)|upper_aerodigestive_tract(1)	39		all_cancers(154;0.118)		COAD - Colon adenocarcinoma(157;0.218)		TGGTCATCCTCTTCTGGTTCA	0.527000														61			35		0	0	1	0	0
ZNF821	55565	broad.mit.edu	37	16	71898054	71898054	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:71898054G>A	uc010vmj.2	-	4	812	c.404C>T	c.(403-405)gCt>gTt	p.A135V	ATXN1L_uc010vmi.1_Intron|ZNF821_uc002fbe.3_5'UTR|ZNF821_uc002fbf.3_Missense_Mutation_p.A93V|ZNF821_uc021tlb.1_Missense_Mutation_p.A135V|ZNF821_uc021tlc.1_Missense_Mutation_p.A135V|ZNF821_uc002fbh.4_Missense_Mutation_p.A93V|ZNF821_uc002fbg.4_5'UTR	NM_001201553	NP_001188482	O75541	ZN821_HUMAN	Homo sapiens zinc finger protein 821 (ZNF821), transcript variant 2, mRNA.	135					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(2)	13						GTACACGTGAGCAATCAACTG	0.552000														71			44		0	0	1	0	0
CLPX	10845	broad.mit.edu	37	15	65472481	65472481	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:65472481C>T	uc002aom.3	-	1	213	c.141G>A	c.(139-141)caG>caA	p.Q47Q	CLPX_uc010uiu.2_Non-coding_Transcript|CLPX_uc010bhg.1_Silent_p.Q47Q	NM_006660	NP_006651	O76031	CLPX_HUMAN	Homo sapiens ClpX caseinolytic peptidase X homolog (E. coli) (CLPX), mRNA.	47					protein folding|proteolysis involved in cellular protein catabolic process	mitochondrial endopeptidase Clp complex|mitochondrial inner membrane|mitochondrial nucleoid	ATP binding|ATPase activity|metal ion binding|peptidase activator activity|unfolded protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)|skin(2)	16						TTTGCAGAATCTGAGTTTCAA	0.383000														60			26		0	0	1	0	0
LOC440041	440041	broad.mit.edu	37	11	55065673	55065673	+	RNA	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:55065673G>T	uc021qjb.1	-	0		c.36C>A			LOC440041_uc001nhl.1_Non-coding_Transcript					Homo sapiens SPRY domain containing 5 pseudogene (LOC440041), non-coding RNA.																		ATGGTGACTGGGTCTAGGAAG	0.488000														58			6		8.12818e-05	8.84769e-05	1	1	0
CPSF3	51692	broad.mit.edu	37	2	9571002	9571002	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:9571002A>G	uc002qzo.1	+	3	369	c.334A>G	c.(334-336)Aaa>Gaa	p.K112E	CPSF3_uc010ewx.1_Missense_Mutation_p.K112E|CPSF3_uc002qzp.1_Missense_Mutation_p.K75E	NM_016207	NP_057291	Q9UKF6	CPSF3_HUMAN	Homo sapiens cleavage and polyadenylation specific factor 3, 73kDa (CPSF3), mRNA.	112					histone mRNA 3'-end processing|mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex|ribonucleoprotein complex	5'-3' exonuclease activity|RNA binding|endoribonuclease activity|metal ion binding|protein binding			NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;2.39e-25)|all_epithelial(98;8.75e-19)|Lung NSC(108;2.38e-06)|Ovarian(717;0.0308)		all cancers(51;2.2e-40)|Epithelial(75;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(76;4.35e-21)|STAD - Stomach adenocarcinoma(1183;0.00644)		TGATTATGTCAAAGTTAGGTA	0.348000														43			34		0	0	1	0	0
ZNF805	390980	broad.mit.edu	37	19	57755401	57755401	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:57755401G>A	uc010ygt.2	+	1	348	c.141G>A	c.(139-141)ggG>ggA	p.G47G	ZNF805_uc010ygu.2_Intron	NM_001023563	NP_001138550	Q5CZA5	ZN805_HUMAN	Homo sapiens zinc finger protein 805 (ZNF805), transcript variant 1, mRNA.	47	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|lung(1)|stomach(1)	9						AAAACTGTGGGCTCCTGGTAT	0.592000														13			9		0	0	1	0	0
VPS13B	157680	broad.mit.edu	37	8	100205171	100205171	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:100205171A>G	uc003yiv.3	+	16	2512	c.2401A>G	c.(2401-2403)Aca>Gca	p.T801A	VPS13B_uc003yiw.3_Missense_Mutation_p.T801A|VPS13B_uc003yit.3_Missense_Mutation_p.T801A|VPS13B_uc003yiu.1_Missense_Mutation_p.T801A|VPS13B_uc003yix.1_Missense_Mutation_p.T272A	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA.	801					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			AATTCAAGCTACAAGAGCACA	0.373000														83			6		0	0	1	0	0
ZNF266	10781	broad.mit.edu	37	19	9525366	9525366	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9525366C>A	uc010dwq.3	-	8	1443	c.235G>T	c.(235-237)Gat>Tat	p.D79Y	ZNF266_uc002mll.3_Missense_Mutation_p.D79Y|ZNF266_uc002mlm.3_Missense_Mutation_p.D79Y|ZNF266_uc002mln.3_Missense_Mutation_p.D79Y|ZNF266_uc002mlo.3_Missense_Mutation_p.D79Y	NM_198058	NP_932175	Q14584	ZN266_HUMAN	Homo sapiens zinc finger protein 266 (ZNF266), mRNA.	79					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(2)|large_intestine(11)|lung(8)|ovary(1)|skin(2)|stomach(1)	28						TGCTTAACATCACTGACCTCC	0.408000														53			34		8.53417e-09	1.00646e-08	1	1	0
NR1I2	8856	broad.mit.edu	37	3	119530454	119530454	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:119530454G>T	uc003edj.3	+	3	2239	c.400G>T	c.(400-402)Ggg>Tgg	p.G134W	NR1I2_uc003edi.3_Missense_Mutation_p.G134W|NR1I2_uc003edk.3_Missense_Mutation_p.G173W|NR1I2_uc003edl.3_Missense_Mutation_p.G22W	NM_003889	NP_003880	O75469	NR1I2_HUMAN	Homo sapiens nuclear receptor subfamily 1, group I, member 2 (NR1I2), transcript variant 1, mRNA.	134	Hinge.				drug export|exogenous drug catabolic process|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid metabolic process|xenobiotic metabolic process|xenobiotic transport	nucleoplasm	drug binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.175)	Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Rifampin(DB01045)|Vitamin E(DB00163)	TGAACGGACAGGGACTCAGCC	0.582000														16			3		0.004672	0.00486265	1	1	0
ZNF707	286075	broad.mit.edu	37	8	144775881	144775881	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:144775881T>C	uc003yze.4	+	6	612	c.297T>C	c.(295-297)caT>caC	p.H99H	ZNF707_uc010mfh.3_Silent_p.H99H|ZNF707_uc010mfi.3_Silent_p.H99H|ZNF707_uc003yzf.4_Silent_p.H99H|ZNF707_uc003yzh.4_Silent_p.H26H|ZNF707_uc011lkq.1_Non-coding_Transcript	NM_173831	NP_776192	Q96C28	ZN707_HUMAN	Homo sapiens zinc finger protein 707 (ZNF707), transcript variant 1, mRNA.	99					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(1)	1	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;5.6e-41)|Epithelial(56;1.02e-39)|all cancers(56;9.65e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CTTGTGATCATCCAGCTTGGG	0.592000														17			10		0	0	1	0	0
STOML1	9399	broad.mit.edu	37	15	74280984	74280984	+	Missense_Mutation	SNP	G	A	A	rs114483410	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:74280984G>A	uc002awe.3	-	3	621	c.550C>T	c.(550-552)Cgg>Tgg	p.R184W	STOML1_uc002awf.3_Missense_Mutation_p.R184W|STOML1_uc010bje.3_Missense_Mutation_p.R184W|STOML1_uc010uld.2_Missense_Mutation_p.R142W|STOML1_uc002awh.3_Missense_Mutation_p.R134W|STOML1_uc002awg.3_Missense_Mutation_p.R134W	NM_004809	NP_004800	Q9UBI4	STML1_HUMAN	Homo sapiens stomatin (EPB72)-like 1 (STOML1), mRNA.	184						integral to membrane	sterol binding			endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						TGGATCTCCCGCAGCGGCCTC	0.617000														31			25		0	0	1	0	0
COL4A5	1287	broad.mit.edu	37	X	107925050	107925050	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:107925050C>T	uc022ccg.1	+	46	4350	c.4148C>T	c.(4147-4149)cCt>cTt	p.P1383L	COL4A5_uc004enz.1_Missense_Mutation_p.P1377L	NM_033380	NP_203699	P29400	CO4A5_HUMAN	Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA.	1377	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						GATGCTGGTCCTCCAGGAATC	0.463000									Alport syndrome with Diffuse Leiomyomatosis					56			31		0	0	1	0	0
SF3B3	23450	broad.mit.edu	37	16	70599032	70599032	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:70599032T>C	uc002ezf.3	+	18	2739	c.2528T>C	c.(2527-2529)cTc>cCc	p.L843P		NM_012426	NP_036558	Q15393	SF3B3_HUMAN	Homo sapiens splicing factor 3b, subunit 3, 130kDa (SF3B3), mRNA.	843					protein complex assembly	U12-type spliceosomal complex|catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex	nucleic acid binding|protein binding			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				GCAGCATTCCTCAATGAAAAC	0.537000														83			6		0	0	1	0	0
RDH13	112724	broad.mit.edu	37	19	55556517	55556517	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:55556517C>A	uc002qio.3	-	6	1106	c.921G>T	c.(919-921)cgG>cgT	p.R307R	RDH13_uc002qip.2_Silent_p.R236R|RDH13_uc010esr.1_Non-coding_Transcript	NM_001145971	NP_612421	Q8NBN7	RDH13_HUMAN	Homo sapiens retinol dehydrogenase 13 (all-trans/9-cis) (RDH13), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	307							binding|oxidoreductase activity			endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.199)	GBM - Glioblastoma multiforme(193;0.0504)	Vitamin A(DB00162)	CCCAAAGCCTCCGGGCCACCT	0.622000														43			5		0.014758	0.0151755	1	1	0
TOMM34	10953	broad.mit.edu	37	20	43580536	43580536	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:43580536G>A	uc002xmy.3	-	3	628	c.488C>T	c.(487-489)tCg>tTg	p.S163L	PABPC1L_uc002xmx.3_Intron	NM_006809	NP_006800	Q15785	TOM34_HUMAN	Homo sapiens translocase of outer mitochondrial membrane 34 (TOMM34), nuclear gene encoding mitochondrial protein, mRNA.	163					protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane	heat shock protein binding|signal sequence binding	p.S163L(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	11		Myeloproliferative disorder(115;0.0122)				GTGGTTCTCCGAAGGCAAGGA	0.527000														58			32		0	0	1	0	0
abParts	0	broad.mit.edu	37	22	22453443	22453443	+	RNA	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:22453443G>T	uc021wml.1	+	6		c.564G>T								Parts of antibodies, mostly variable regions.																		GCTGGTACCAGCAGACCCCAG	0.572000														62			28		9.39395e-14	1.17142e-13	1	1	0
TSPYL2	64061	broad.mit.edu	37	X	53114479	53114479	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:53114479G>T	uc004drw.3	+	4	1353	c.1214G>T	c.(1213-1215)aGa>aTa	p.R405I	TSPYL2_uc004drv.3_3'UTR|TSPYL2_uc004drx.1_5'UTR	NM_022117	NP_071400	Q9H2G4	TSYL2_HUMAN	Homo sapiens TSPY-like 2 (TSPYL2), mRNA.	405					cell cycle|chromatin modification|negative regulation of DNA replication|negative regulation of cell cycle|negative regulation of cell growth|nucleosome assembly|regulation of protein kinase activity|regulation of signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|rDNA binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	19						AGGATAAAGAGAAAGAAGCAA	0.438000														33			4		0.00909568	0.00940365	1	1	0
RYR3	6263	broad.mit.edu	37	15	33893742	33893742	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:33893742C>T	uc001zhi.3	+	16	1981	c.1911C>T	c.(1909-1911)aaC>aaT	p.N637N	RYR3_uc010bar.3_Silent_p.N637N	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	637	B30.2/SPRY 1.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GACTGATTAACGATGTAACCA	0.507000														12			8		0	0	1	0	0
CATSPERD	257062	broad.mit.edu	37	19	5778417	5778417	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:5778417C>A	uc002mda.3	+	21	2188	c.2127C>A	c.(2125-2127)atC>atA	p.I709I		NM_152784	NP_689997	Q86XM0	TM146_HUMAN	Homo sapiens transmembrane protein 146 (TMEM146), mRNA.	709						integral to membrane											TCTTTAGCATCTACGTGTATG	0.572000														53			6		0.0381472	0.0388409	1	1	0
SULF2	55959	broad.mit.edu	37	20	46292287	46292287	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:46292287G>A	uc002xto.3	-	15	2467	c.2137C>T	c.(2137-2139)Cgc>Tgc	p.R713C	SULF2_uc002xtr.3_Missense_Mutation_p.R713C|SULF2_uc002xtq.3_Missense_Mutation_p.R713C|SULF2_uc010zyd.2_5'UTR	NM_018837	NP_061325	Q8IWU5	SULF2_HUMAN	Homo sapiens sulfatase 2 (SULF2), transcript variant 1, mRNA.	713					bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	Golgi stack|cell surface|endoplasmic reticulum|extracellular space	arylsulfatase activity|calcium ion binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						TTCTGCAGGCGCTTGAGCAGC	0.607000											OREG0026005	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		66			47		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140769033	140769033	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140769033C>A	uc003lkc.2	+	0	1582	c.1582C>A	c.(1582-1584)Ctc>Atc	p.L528I	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkb.4_5'UTR	NM_003736	NP_003727	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 4 (PCDHGB4), transcript variant 1, mRNA.	532	Cadherin 5.				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)			CGCCTTCGAACTCACACTGCA	0.677000														31			17		5.3912e-06	6.03622e-06	1	1	0
HIVEP2	3097	broad.mit.edu	37	6	143095871	143095871	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:143095871T>C	uc003qjd.3	-	4	748	c.5A>G	c.(4-6)gAc>gGc	p.D2G		NM_006734	NP_006725	P31629	ZEP2_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 2 (HIVEP2), mRNA.	2					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		GTCCCCAGTGTCCATTTTGTT	0.453000														91			47		0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51524157	51524157	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:51524157C>T	uc003pah.1	-	60	11043	c.10767G>A	c.(10765-10767)caG>caA	p.Q3589Q		NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	3589					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	p.Q3589H(2)|p.Q3589_I3590>HV(2)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TTTGGCCAATCTGTAAGAAGT	0.433000														76			10		0	0	1	0	0
OCIAD1	54940	broad.mit.edu	37	4	48834663	48834663	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:48834663C>T	uc010igk.3	+	1	253	c.37C>T	c.(37-39)Cga>Tga	p.R13*	OCIAD1_uc011bzk.2_Intron|OCIAD1_uc003gyo.3_Nonsense_Mutation_p.R8*|OCIAD1_uc003gyq.3_Nonsense_Mutation_p.R8*|OCIAD1_uc003gyp.3_Nonsense_Mutation_p.R8*|OCIAD1_uc003gyr.3_Nonsense_Mutation_p.R8*|OCIAD1_uc021xoc.1_Nonsense_Mutation_p.R8*	NM_001168254	NP_001161726	Q9NX40	OCAD1_HUMAN	Homo sapiens OCIA domain containing 1 (OCIAD1), transcript variant 6, mRNA.	8	OCIA.					endosome	protein binding			breast(2)|large_intestine(2)|lung(2)|prostate(1)|skin(2)	9						GGCTGATTTTCGAGAGCCGAA	0.348000														91			56		0	0	1	0	0
SLC2A14	144195	broad.mit.edu	37	12	7985401	7985401	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:7985401C>T	uc010sgh.2	-	1	163	c.142G>A	c.(142-144)Gct>Act	p.A48T	SLC2A14_uc001qtk.3_Missense_Mutation_p.A33T|SLC2A14_uc001qtl.3_Missense_Mutation_p.A10T|SLC2A14_uc001qtm.3_Missense_Mutation_p.A10T|SLC2A14_uc010sgg.2_5'UTR|SLC2A14_uc001qtn.3_Missense_Mutation_p.A33T|SLC2A14_uc001qto.3_Intron	NM_153449	NP_703150	Q8TDB8	GTR14_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 14 (SLC2A14), mRNA.	33					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane	glucose transmembrane transporter activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38				Kidney(36;0.0883)		AAGATCAGAGCTGGGGTGACC	0.468000											OREG0021654	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		22			19		0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100679256	100679256	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100679256C>A	uc003uxp.1	+	2	4612	c.4559C>A	c.(4558-4560)cCt>cAt	p.P1520H	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	1520	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)					ACAAGTATACCTGTCAGCACC	0.478000														186			54		5.99346e-17	7.61688e-17	1	1	0
BCL9L	283149	broad.mit.edu	37	11	118773031	118773031	+	Nonsense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:118773031G>T	uc001pug.3	-	5	2386	c.1421C>A	c.(1420-1422)tCa>tAa	p.S474*	BCL9L_uc009zal.3_Nonsense_Mutation_p.S469*	NM_182557	NP_872363	Q86UU0	BCL9L_HUMAN	Homo sapiens B-cell CLL/lymphoma 9-like (BCL9L), mRNA.	474	Necessary for interaction with CTNNB1 (By similarity).|Pro-rich.				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		CTGTGTCTGTGAAATCATGGA	0.652000														100			12		2.80697e-09	3.3309e-09	1	1	0
AK5	26289	broad.mit.edu	37	1	77759556	77759556	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:77759556A>G	uc001dhn.3	+	2	663	c.326A>G	c.(325-327)gAc>gGc	p.D109G	AK5_uc001dho.3_Missense_Mutation_p.D83G|AK5_uc001dhm.2_Missense_Mutation_p.D85G	NM_174858	NP_036225	Q9Y6K8	KAD5_HUMAN	Homo sapiens adenylate kinase 5 (AK5), transcript variant 1, mRNA.	109					ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction	centrosome|cytosol	ATP binding|adenylate kinase activity|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						ATAGAAAGTGACACGGATCTC	0.423000														54			25		0	0	1	0	0
MAPKBP1	23005	broad.mit.edu	37	15	42113212	42113212	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:42113212A>G	uc001zok.4	+	23	2968	c.2682A>G	c.(2680-2682)ccA>ccG	p.P894P	MAPKBP1_uc010bci.3_Silent_p.P888P|MAPKBP1_uc010udb.2_Silent_p.P727P|MAPKBP1_uc001zoj.4_Silent_p.P888P|MAPKBP1_uc010bcj.3_Silent_p.P395P|MAPKBP1_uc010bck.3_Silent_p.P105P|MAPKBP1_uc010bcl.3_Silent_p.P395P	NM_001128608	NP_001122080	O60336	MABP1_HUMAN	Homo sapiens mitogen-activated protein kinase binding protein 1 (MAPKBP1), transcript variant 2, mRNA.	894										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		CCATCATCCCATCTGGTCCCA	0.592000														35			4		0	0	1	0	0
ST13P4	145165	broad.mit.edu	37	13	50746252	50746252	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:50746252C>T	uc001vej.3	+	0	99	c.28C>T	c.(28-30)Cgg>Tgg	p.R10W	BCMS_uc010adl.1_Intron|BCMS_uc001vee.1_Intron|BCMS_uc010adm.1_Intron|BCMS_uc010adn.1_Intron|BCMS_uc001vef.1_Intron|BCMS_uc001veg.1_Intron|BCMS_uc010tgn.1_Intron|BCMS_uc001vei.1_Intron|BCMS_uc010ado.1_Intron|BCMS_uc010adp.1_Intron					Homo sapiens suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 4 (ST13P4), non-coding RNA.																		GAACGAGCTTCGGGCCTTTGT	0.617000														9			9		0	0	1	0	0
ACIN1	22985	broad.mit.edu	37	14	23549333	23549333	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:23549333C>A	uc001wit.4	-	5	1713	c.1385G>T	c.(1384-1386)aGg>aTg	p.R462M	ACIN1_uc001wis.4_Missense_Mutation_p.R144M|ACIN1_uc010akg.3_Missense_Mutation_p.R462M|ACIN1_uc010tnj.2_Missense_Mutation_p.R422M	NM_014977	NP_055792	Q9UKV3	ACINU_HUMAN	Homo sapiens apoptotic chromatin condensation inducer 1 (ACIN1), transcript variant 1, mRNA.	462					apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		TAATAGCTCCCTGGTGTCAGC	0.502000														71			7		5.18039e-06	5.80246e-06	1	1	0
PPP1R26	9858	broad.mit.edu	37	9	138378029	138378029	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:138378029G>A	uc022bpi.1	+	0	1673	c.1673G>A	c.(1672-1674)tGc>tAc	p.C558Y	PPP1R26_uc004cfr.1_Missense_Mutation_p.C558Y	NM_014811	NP_055626	Q5T8A7	K0649_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 26 (PPP1R26), mRNA.	558						nucleolus	protein binding										GGTGAGAGCTGCCCGCAGGCT	0.612000														127			56		0	0	1	0	0
HECW1	23072	broad.mit.edu	37	7	43483896	43483896	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:43483896C>T	uc003tid.1	+	10	1730	c.1125C>T	c.(1123-1125)agC>agT	p.S375S	HECW1_uc011kbi.1_Silent_p.S375S	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 (HECW1), mRNA.	375					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	p.S354S(1)		NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						TGATGGAAAGCGGCAGTGGGG	0.552000														32			11		0	0	1	0	0
TRRAP	8295	broad.mit.edu	37	7	98515137	98515137	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:98515137G>A	uc003upp.3	+	19	2666	c.2457G>A	c.(2455-2457)tcG>tcA	p.S819S	TRRAP_uc011kis.2_Silent_p.S819S|TRRAP_uc003upr.3_Silent_p.S511S	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.	819					histone H2A acetylation|histone H4 acetylation|histone deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GGCTGAGCTCGCTTTTGCCGT	0.572000														70			19		0	0	1	0	0
ZZEF1	23140	broad.mit.edu	37	17	3999910	3999910	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:3999910C>T	uc002fxe.3	-	9	1821	c.1757G>A	c.(1756-1758)aGa>aAa	p.R586K	ZZEF1_uc002fxk.1_Missense_Mutation_p.R586K	NM_015113	NP_055928	O43149	ZZEF1_HUMAN	Homo sapiens zinc finger, ZZ-type with EF-hand domain 1 (ZZEF1), mRNA.	586							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						TACCATAATTCTTATCTGTGT	0.343000														153			13		0	0	1	0	0
TULP1	7287	broad.mit.edu	37	6	35478765	35478765	+	Silent	SNP	G	A	A	rs147950414	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:35478765G>A	uc003okv.4	-	4	384	c.372C>T	c.(370-372)gaC>gaT	p.D124D	TULP1_uc003okw.4_Silent_p.D71D|TULP1_uc021yyx.1_Silent_p.D124D|TULP1_uc021yyy.1_Silent_p.D124D	NM_003322	NP_003313	O00294	TULP1_HUMAN	Homo sapiens tubby like protein 1 (TULP1), mRNA.	124	Poly-Glu.		Missing (in RP14).		dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis	cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse	actin filament binding|phosphatidylinositol-4,5-bisphosphate binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	19						cgtcctcctcgtcctcctctt	0.557000														61			25		0	0	1	0	0
C14orf28	122525	broad.mit.edu	37	14	45370113	45370113	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:45370113C>T	uc001wvo.3	+	1	741	c.475C>T	c.(475-477)Cga>Tga	p.R159*	C14orf28_uc001wvp.1_Nonsense_Mutation_p.R159*	NM_001017923	NP_001017923	Q4W4Y0	CN028_HUMAN	Homo sapiens chromosome 14 open reading frame 28 (C14orf28), mRNA.	159								p.R159L(1)		endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(2)	11						TTCCAACTGGCGATGCCCAAC	0.343000														31			17		0	0	1	0	0
SLC26A4	5172	broad.mit.edu	37	7	107330592	107330592	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:107330592C>T	uc003vep.3	+	9	1397	c.1173C>T	c.(1171-1173)agC>agT	p.S391S	SLC26A4_uc011kmb.2_5'Flank|SLC26A4_uc011kmc.2_5'Flank	NM_000441	NP_000432	O43511	S26A4_HUMAN	Homo sapiens solute carrier family 26, member 4 (SLC26A4), mRNA.	391			S -> N (in PDS).		regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						TTGGGATCAGCAACATCTTCT	0.473000									Pendred syndrome					102			14		0	0	1	0	0
COL9A1	1297	broad.mit.edu	37	6	70964198	70964198	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:70964198G>A	uc003pfg.4	-	24	1859	c.1700C>T	c.(1699-1701)gCa>gTa	p.A567V	COL9A1_uc003pfe.4_Missense_Mutation_p.A140V|COL9A1_uc003pff.4_Missense_Mutation_p.A324V	NM_001851	NP_001842	P20849	CO9A1_HUMAN	Homo sapiens collagen, type IX, alpha 1 (COL9A1), transcript variant 1, mRNA.	567	Triple-helical region (COL2).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						CTGCAATCCTGCATCACCAGG	0.383000														26			22		0	0	1	0	0
SENP3	26168	broad.mit.edu	37	17	7468005	7468005	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7468005G>T	uc002ghm.3	+	2	1062	c.779G>T	c.(778-780)aGc>aTc	p.S260I	EIF4A1_uc002gho.2_5'UTR|SENP3_uc002ghn.1_Missense_Mutation_p.S95I	NM_015670	NP_056485	Q9H4L4	SENP3_HUMAN	Homo sapiens SUMO1/sentrin/SMT3 specific peptidase 3 (SENP3), mRNA.	260					proteolysis	MLL1 complex|nucleolus	cysteine-type peptidase activity			central_nervous_system(1)|ovary(1)	2		Prostate(122;0.157)				GGGGAGCGCAGCTTGGCACCC	0.572000														25			18		1.85244e-09	2.20857e-09	1	1	0
FAM117B	150864	broad.mit.edu	37	2	203589718	203589718	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:203589718G>T	uc010zhx.2	+	2	842	c.832G>T	c.(832-834)Gat>Tat	p.D278Y	FAM117B_uc010zhw.2_Missense_Mutation_p.D278Y	NM_173511	NP_775782	Q6P1L5	F117B_HUMAN	Homo sapiens family with sequence similarity 117, member B (FAM117B), mRNA.	278										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)	17						GGGCAGTACAGATCAACTTAA	0.423000														57			6		3.59834e-05	3.95114e-05	1	1	0
ISLR2	57611	broad.mit.edu	37	15	74426914	74426914	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:74426914C>T	uc002axd.3	+	3	2588	c.1819C>T	c.(1819-1821)Ccc>Tcc	p.P607S	ISLR2_uc002axe.3_Missense_Mutation_p.P607S|ISLR2_uc010bjg.3_Missense_Mutation_p.P607S|ISLR2_uc010bjf.3_Missense_Mutation_p.P607S|ISLR2_uc021sqe.1_Missense_Mutation_p.P607S	NM_001130136	NP_065902	Q6UXK2	ISLR2_HUMAN	Homo sapiens immunoglobulin superfamily containing leucine-rich repeat 2 (ISLR2), transcript variant 1, mRNA.	607					positive regulation of axon extension	cell surface|integral to membrane|plasma membrane				breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						GGCCACAGTGCCCCTTCTGGG	0.627000											OREG0023277	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		27			9		0	0	1	0	0
MVD	4597	broad.mit.edu	37	16	88723931	88723931	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:88723931G>T	uc002flg.1	-	3	323	c.316C>A	c.(316-318)Ctc>Atc	p.L106I	MVD_uc002flf.1_5'Flank	NM_002461	NP_002452	P53602	MVD1_HUMAN	Homo sapiens mevalonate (diphospho) decarboxylase (MVD), mRNA.	106					cholesterol biosynthetic process|positive regulation of cell proliferation	cytosol	ATP binding|Hsp70 protein binding|diphosphomevalonate decarboxylase activity|kinase activity|protein homodimerization activity			endometrium(3)|large_intestine(1)|lung(7)|ovary(1)	12				BRCA - Breast invasive adenocarcinoma(80;0.0478)		TTGCAGCTGAGGCTGGAGGGC	0.677000														19			13		4.36969e-10	5.24943e-10	1	1	0
IL20RB	53833	broad.mit.edu	37	3	136699435	136699435	+	Splice_Site	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:136699435G>T	uc003eri.2	+	2	464	c.215_splice	c.e2+1	p.G72_splice	IL20RB_uc003erj.2_Splice_Site|IL20RB_uc010hud.2_Splice_Site	NM_144717	NP_653318	Q6UXL0	I20RB_HUMAN	Homo sapiens interleukin 20 receptor beta (IL20RB), mRNA.	72	Fibronectin type-III 1.					integral to membrane	receptor activity			kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14						AATACCAGGGGTGAGTTTTTT	0.478000														71			52		9.45407e-15	1.18657e-14	1	1	0
CITED1	4435	broad.mit.edu	37	X	71522666	71522666	+	Silent	SNP	C	T	T	rs141552530		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:71522666C>T	uc011mqc.2	-	2	330	c.132G>A	c.(130-132)gcG>gcA	p.A44A	CITED1_uc011mqd.2_Silent_p.A18A|CITED1_uc004eas.3_Silent_p.A18A|CITED1_uc004eat.3_Silent_p.A18A	NM_001144885	NP_004134	Q99966	CITE1_HUMAN	Homo sapiens Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 1 (CITED1), transcript variant 2, mRNA.	18					SMAD protein signal transduction|apoptosis|branching involved in ureteric bud morphogenesis|cell proliferation|melanin biosynthetic process|melanocyte differentiation|mesenchymal to epithelial transition|metanephros development|negative regulation of Wnt receptor signaling pathway|negative regulation of neuron apoptosis|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|nucleocytoplasmic transport|placenta development|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transcription from RNA polymerase II promoter|response to cAMP|response to estrogen stimulus|response to insulin stimulus|response to interferon-gamma|response to interleukin-1|response to interleukin-11|response to interleukin-2|response to interleukin-4|response to interleukin-6|response to interleukin-9|response to lipopolysaccharide|response to parathyroid hormone stimulus|response to transforming growth factor beta stimulus|transforming growth factor beta receptor signaling pathway	cytosol|nucleus	LBD domain binding|chromatin binding|co-SMAD binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding			skin(1)	1	Renal(35;0.156)					ttacctccttcgcaggTGAGG	0.517000														7			5		0	0	1	0	0
CSDE1	7812	broad.mit.edu	37	1	115267900	115267900	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:115267900G>A	uc001efi.3	-	15	2355	c.1833C>T	c.(1831-1833)agC>agT	p.S611S	CSDE1_uc001efj.3_Non-coding_Transcript|CSDE1_uc001efk.3_Silent_p.S565S|CSDE1_uc001efm.3_Silent_p.S580S|CSDE1_uc009wgv.3_Silent_p.S565S|CSDE1_uc001efl.3_Silent_p.S534S|CSDE1_uc001efn.3_Silent_p.S534S	NM_001242891	NP_001229820	O75534	CSDE1_HUMAN	Homo sapiens cold shock domain containing E1, RNA-binding (CSDE1), transcript variant 4, mRNA.	565	CSD 8.				male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|RNA binding|protein binding			NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTTTGGACAAGCTATACTCGA	0.393000														97			36		0	0	1	0	0
ERCC6L	54821	broad.mit.edu	37	X	71427039	71427039	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:71427039A>G	uc004eaq.1	-	1	1675	c.1578T>C	c.(1576-1578)aaT>aaC	p.N526N	PIN4_uc004eao.2_Intron|ERCC6L_uc004eap.1_Silent_p.N403N	NM_017669	NP_060139	Q2NKX8	ERC6L_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 6-like (ERCC6L), mRNA.	526	Helicase C-terminal.				cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol	ATP binding|DNA binding|helicase activity|protein binding			breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38	Renal(35;0.156)					AGTAATCTTTATTTTGCTGGA	0.383000														70			39		0	0	1	0	0
DMXL1	1657	broad.mit.edu	37	5	118484954	118484954	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:118484954G>A	uc010jcl.1	+	17	3613	c.3432G>A	c.(3430-3432)tgG>tgA	p.W1144*	DMXL1_uc003ksd.2_Nonsense_Mutation_p.W1144*|DMXL1_uc021ycw.1_Nonsense_Mutation_p.W971*	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN	Homo sapiens Dmx-like 1 (DMXL1), mRNA.	1144										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		ACTTAGATTGGATGTCTAGAG	0.368000														67			31		0	0	1	0	0
ZNF544	27300	broad.mit.edu	37	19	58773033	58773033	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58773033C>A	uc010euo.3	+	6	1535	c.1061C>A	c.(1060-1062)tCt>tAt	p.S354Y	ZNF544_uc010yhw.1_Non-coding_Transcript|ZNF544_uc010yhx.2_Missense_Mutation_p.S326Y|ZNF544_uc010yhy.2_Missense_Mutation_p.S326Y|ZNF544_uc002qrt.4_Missense_Mutation_p.S212Y|ZNF544_uc002qru.4_Missense_Mutation_p.S212Y|BC063675_uc002qrx.1_Intron	NM_014480	NP_055295	Q6NX49	ZN544_HUMAN	Homo sapiens zinc finger protein 544 (ZNF544), mRNA.	354					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	18		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)		GAGAAGCCATCTGTGTGTAAT	0.473000														50			8		1.12685e-05	1.25391e-05	1	1	0
LOC649330	649330	broad.mit.edu	37	1	12907884	12907884	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:12907884C>T	uc010obf.2	-	1	485	c.259G>A	c.(259-261)Gag>Aag	p.E87K	LOC649330_uc009vno.2_Missense_Mutation_p.E87K	NM_001013631	NP_001013653	B7ZW38	B7ZW38_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein C-like 1 (HNRNPCL1), mRNA.	87							nucleic acid binding|nucleotide binding										ACTTTTGGCTCTGCAGCCAGG	0.478000														150			17		0	0	1	0	0
XPO6	23214	broad.mit.edu	37	16	28123322	28123322	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:28123322C>A	uc002dpa.1	-	16	2658	c.2157G>T	c.(2155-2157)caG>caT	p.Q719H	XPO6_uc002dpb.1_Missense_Mutation_p.Q705H|XPO6_uc010vcp.1_Missense_Mutation_p.Q719H	NM_015171	NP_055986	Q96QU8	XPO6_HUMAN	Homo sapiens exportin 6 (XPO6), mRNA.	719					protein export from nucleus		protein binding|protein transporter activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						ACACCAACACCTGGGCCTACA	0.602000														7			3		0.004672	0.00486265	1	1	0
USP34	9736	broad.mit.edu	37	2	61433181	61433181	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:61433181C>A	uc002sbe.3	-	71	9147	c.9125G>T	c.(9124-9126)aGt>aTt	p.S3042I	USP34_uc002sbd.3_5'UTR	NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	Homo sapiens ubiquitin specific peptidase 34 (USP34), mRNA.	3042					Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			TTCTGGAGGACTATAGGAATT	0.363000														59			40		4.01765e-15	5.05433e-15	1	1	0
SUPV3L1	6832	broad.mit.edu	37	10	70960148	70960148	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:70960148G>T	uc001jpe.1	+	10	1466	c.1411G>T	c.(1411-1413)Gct>Tct	p.A471S	SUPV3L1_uc010qjd.1_Missense_Mutation_p.A340S	NM_003171	NP_003162	Q8IYB8	SUV3_HUMAN	Homo sapiens suppressor of var1, 3-like 1 (S. cerevisiae) (SUPV3L1), mRNA.	471	Helicase C-terminal.				DNA duplex unwinding	mitochondrial nucleoid|nucleus	ATP binding|DNA binding|DNA helicase activity|RNA binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TGCTGGCAGAGCTGGCAGATT	0.408000														64			28		3.11337e-16	3.94066e-16	1	1	0
CTNND1	1500	broad.mit.edu	37	11	57569568	57569568	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:57569568C>T	uc001nmc.4	+	6	1891	c.1320C>T	c.(1318-1320)gaC>gaT	p.D440D	CTNND1_uc001nlf.2_Silent_p.D440D|CTNND1_uc021qjk.1_Silent_p.D440D|CTNND1_uc001nlh.1_Silent_p.D440D|CTNND1_uc001nlj.4_Silent_p.D386D|CTNND1_uc001nlq.4_Silent_p.D339D|CTNND1_uc001nlr.4_Silent_p.D386D|CTNND1_uc001nln.4_Silent_p.D440D|CTNND1_uc001nli.4_Silent_p.D440D|CTNND1_uc001nlo.4_Silent_p.D339D|CTNND1_uc001nlp.4_Silent_p.D386D|CTNND1_uc001nlu.4_Silent_p.D339D|CTNND1_uc001nlt.4_Silent_p.D339D|CTNND1_uc001nlv.4_Silent_p.D339D|CTNND1_uc001nls.4_Silent_p.D339D|CTNND1_uc001nlw.4_Silent_p.D339D|CTNND1_uc001nmf.4_Silent_p.D440D|CTNND1_uc001nlx.4_Silent_p.D117D|CTNND1_uc001nlz.4_Silent_p.D117D|CTNND1_uc009ymn.3_Silent_p.D117D|CTNND1_uc001nly.4_Silent_p.D117D|CTNND1_uc001nmb.4_Silent_p.D117D|CTNND1_uc001nma.4_Silent_p.D117D|CTNND1_uc001nmd.4_Silent_p.D386D|CTNND1_uc001nlk.4_Silent_p.D386D|CTNND1_uc001nme.4_Silent_p.D440D|CTNND1_uc001nll.4_Silent_p.D386D|CTNND1_uc001nlm.4_Silent_p.D440D|CTNND1_uc001nmi.4_Silent_p.D339D|CTNND1_uc001nmg.4_Silent_p.D386D|CTNND1_uc001nmh.4_Silent_p.D440D	NM_001085458	NP_001078932	O60716	CTND1_HUMAN	Homo sapiens catenin (cadherin-associated protein), delta 1 (CTNND1), transcript variant 1, mRNA.	440					Wnt receptor signaling pathway|adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|midbody|nucleus	cadherin binding|protein binding|receptor binding			breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				TTGGACGTGACCAGGATAACA	0.473000														172			72		0	0	1	0	0
FLT4	2324	broad.mit.edu	37	5	180035977	180035977	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:180035977C>T	uc003mlz.4	-	28	3963	c.3884G>A	c.(3883-3885)aGc>aAc	p.S1295N	FLT4_uc003mma.4_Missense_Mutation_p.S1295N	NM_182925	NP_891555	P35916	VGFR3_HUMAN	Homo sapiens fms-related tyrosine kinase 4 (FLT4), transcript variant 1, mRNA.	1295					positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	CCTGAAGCCGCTTTCTTGTCT	0.602000														54			25		0	0	1	0	0
DPEP3	64180	broad.mit.edu	37	16	68011861	68011861	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:68011861C>T	uc002evc.4	-	4	905	c.811G>A	c.(811-813)Gga>Aga	p.G271R	DPEP3_uc010cex.3_Missense_Mutation_p.G271R	NM_022357	NP_071752	Q9H4B8	DPEP3_HUMAN	Homo sapiens dipeptidase 3 (DPEP3), transcript variant 1, mRNA.	246					meiosis	anchored to membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity			breast(4)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236)		CTTGTCAATCCGCTGACGTTG	0.542000														49			6		0	0	1	0	0
RFX4	5992	broad.mit.edu	37	12	107155035	107155035	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:107155035C>A	uc001tlt.3	+	17	2163	c.2023C>A	c.(2023-2025)Ctg>Atg	p.L675M	LOC100287944_uc021rdg.1_Intron|RFX4_uc001tlr.3_Missense_Mutation_p.L666M|RFX4_uc001tlv.3_Missense_Mutation_p.L572M	NM_001206691	NP_001193620	Q33E94	RFX4_HUMAN	Homo sapiens regulatory factor X, 4 (influences HLA class II expression) (RFX4), transcript variant 4, mRNA.	666					transcription, DNA-dependent	nucleus	DNA binding			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						TACTCCCAGACTGCATCCTAC	0.517000														117			61		5.82218e-30	7.6779e-30	1	1	0
KRR1	11103	broad.mit.edu	37	12	75897758	75897758	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:75897758T>C	uc001sxt.3	-	6	798	c.757A>G	c.(757-759)Aaa>Gaa	p.K253E	KRR1_uc009zsc.3_Intron	NM_007043	NP_008974	Q13601	KRR1_HUMAN	Homo sapiens KRR1, small subunit (SSU) processome component, homolog (yeast) (KRR1), mRNA.	253	Lys-rich.				rRNA processing	nucleolus|ribonucleoprotein complex	RNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(1)|pancreas(1)|urinary_tract(1)	11						TCCTTGCGTTTATTCACATTT	0.353000														150			9		0	0	1	0	0
TBC1D2	55357	broad.mit.edu	37	9	100961719	100961719	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:100961719G>A	uc011lvb.2	-	12	2911	c.2731C>T	c.(2731-2733)Cgc>Tgc	p.R911C	TBC1D2_uc004ayp.3_Missense_Mutation_p.R451C|TBC1D2_uc004ayq.3_Missense_Mutation_p.R900C|TBC1D2_uc004ayr.3_Missense_Mutation_p.R693C	NM_018421	NP_060891	Q9BYX2	TBD2A_HUMAN	Homo sapiens TBC1 domain family, member 2 (TBC1D2), mRNA.	911						cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		ACAGCTCTGCGCCGGGATGCC	0.692000														118			18		0	0	1	0	0
FAM179B	23116	broad.mit.edu	37	14	45432170	45432170	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:45432170T>C	uc001wvw.3	+	0	755	c.546T>C	c.(544-546)ccT>ccC	p.P182P	FAM179B_uc001wvv.3_Silent_p.P182P|FAM179B_uc010anc.3_Non-coding_Transcript|KLHL28_uc001wvq.3_5'Flank|KLHL28_uc001wvr.3_5'Flank|FAM179B_uc010anb.1_Silent_p.P182P|FAM179B_uc001wvu.3_Silent_p.P182P	NM_015091	NP_055906	Q9Y4F4	F179B_HUMAN	Homo sapiens family with sequence similarity 179, member B (FAM179B), mRNA.	182							binding			endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						CACTTTTGCCTCAACTAGTTG	0.537000														95			8		0	0	1	0	0
NLRP4	147945	broad.mit.edu	37	19	56369066	56369066	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:56369066G>A	uc002qmd.4	+	2	729	c.307G>A	c.(307-309)Gca>Aca	p.A103T	NLRP4_uc002qmf.3_Missense_Mutation_p.A28T|NLRP4_uc010etf.3_5'UTR	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA.	103							ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		TCAAGCTCACGCAAAGCAGAA	0.428000														21			24		0	0	1	0	0
CBX6	23466	broad.mit.edu	37	22	39262895	39262895	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:39262895G>A	uc003awl.3	-	4	621	c.558C>T	c.(556-558)ggC>ggT	p.G186G		NM_014292	NP_055107	O95503	CBX6_HUMAN	Homo sapiens chromobox homolog 6 (CBX6), mRNA.	186					chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex				large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6	Melanoma(58;0.04)					cgcccccgccgccAGCGCCCT	0.677000														11			7		0	0	1	0	0
RAPGEF6	51735	broad.mit.edu	37	5	130799818	130799818	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:130799818G>A	uc003kvn.2	-	17	2602	c.2396C>T	c.(2395-2397)tCt>tTt	p.S799F	RAPGEF6_uc003kvp.2_Missense_Mutation_p.S849F|RAPGEF6_uc003kvo.2_Missense_Mutation_p.S804F|RAPGEF6_uc010jdi.2_Missense_Mutation_p.S799F|RAPGEF6_uc010jdj.2_Missense_Mutation_p.S799F|RAPGEF6_uc003kvq.3_Missense_Mutation_p.S516F|RAPGEF6_uc011cxe.2_Non-coding_Transcript|RAPGEF6_uc003kvr.3_Missense_Mutation_p.S799F|RAPGEF6_uc010jdk.3_Missense_Mutation_p.S799F	NM_016340	NP_057424	Q8TEU7	RPGF6_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 6 (RAPGEF6), transcript variant 2, mRNA.	799	Ras-associating.				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|Ras GTPase binding|guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		AGGAGTAACAGAAACTTCACA	0.383000														46			20		0	0	1	0	0
ASAH2	56624	broad.mit.edu	37	10	52008258	52008258	+	Missense_Mutation	SNP	A	G	G	rs114108618	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:52008258A>G	uc001jjd.3	-	0	113	c.113T>C	c.(112-114)aTt>aCt	p.I38T	ASAH2_uc009xos.3_Missense_Mutation_p.I38T	NM_019893	NP_063946	Q9NR71	ASAH2_HUMAN	Homo sapiens N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2 (ASAH2), transcript variant 1, mRNA.	38					apoptosis|ceramide metabolic process|signal transduction	integral to membrane|mitochondrion|plasma membrane	ceramidase activity			large_intestine(1)|lung(9)|urinary_tract(1)	11						GTGGTTTTCAATGGTCCCACT	0.433000														39			4		0	0	1	0	0
WDR17	116966	broad.mit.edu	37	4	177094487	177094487	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:177094487G>A	uc003iuj.3	+	26	3734	c.3431G>A	c.(3430-3432)cGt>cAt	p.R1144H	WDR17_uc003ium.4_Missense_Mutation_p.R1105H|WDR17_uc003iul.2_Intron|WDR17_uc003iun.3_Missense_Mutation_p.R355H	NM_170710	NP_733828	Q8IZU2	WDR17_HUMAN	Homo sapiens WD repeat domain 17 (WDR17), transcript variant 1, mRNA.	1144										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		AGCTATATTCGTACTGAAAAA	0.333000														30			12		0	0	1	0	0
SPRY4	81848	broad.mit.edu	37	5	141694443	141694443	+	Silent	SNP	C	T	T	rs143709567	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:141694443C>T	uc010jgi.1	-	2	541	c.300G>A	c.(298-300)acG>acA	p.T100T	SPRY4_uc003lml.2_Silent_p.T77T|SPRY4_uc021yet.1_Silent_p.T77T	NM_030964	NP_001120968	Q9C004	SPY4_HUMAN	Homo sapiens sprouty homolog 4 (Drosophila) (SPRY4), transcript variant 1, mRNA.	77	Poly-Ser.				multicellular organismal development	cytoplasm|ruffle membrane	protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(1)	18		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCGGGCGGGCGTCGGGGCCA	0.662000									Testicular Cancer, Familial Clustering of					32			23		0	0	1	0	0
MLL2	8085	broad.mit.edu	37	12	49437698	49437698	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:49437698C>T	uc001rta.4	-	21	5272	c.5272G>A	c.(5272-5274)Ggg>Agg	p.G1758R		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	1758					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						TTCTTGCGCCCTCGCCGCTGT	0.587000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)	OREG0021780	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		48			41		0	0	1	0	0
UBE2J2	118424	broad.mit.edu	37	1	1192381	1192381	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:1192381C>T	uc001adp.3	-	4	594	c.405G>A	c.(403-405)tcG>tcA	p.S135S	UBE2J2_uc001adm.3_Silent_p.S100S|UBE2J2_uc001ado.3_Silent_p.S151S|UBE2J2_uc001adq.3_Silent_p.S83S|UBE2J2_uc001adr.3_Silent_p.S83S	NM_058167	NP_919440	Q8N2K1	UB2J2_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2, J2 (UBE2J2), transcript variant 2, mRNA.	135					response to unfolded protein	endoplasmic reticulum membrane|integral to membrane	ATP binding|ubiquitin-protein ligase activity			cervix(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;6.66e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.53e-21)|Colorectal(212;0.00019)|COAD - Colon adenocarcinoma(227;0.000215)|Kidney(185;0.00255)|BRCA - Breast invasive adenocarcinoma(365;0.00266)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0371)|Lung(427;0.205)		CCGTGAAGTCCGACGTCTCTA	0.577000														63			33		0	0	1	0	0
SLC35F2	54733	broad.mit.edu	37	11	107677491	107677491	+	Nonsense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:107677491C>A	uc001pjq.3	-	3	947	c.526G>T	c.(526-528)Gga>Tga	p.G176*	SLC35F2_uc010rvu.2_Nonsense_Mutation_p.G28*|SLC35F2_uc001pjs.3_Nonsense_Mutation_p.G176*	NM_017515	NP_059985	Q8IXU6	S35F2_HUMAN	Homo sapiens solute carrier family 35, member F2 (SLC35F2), mRNA.	176					transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(61;9.46e-06)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;0.000111)|all_hematologic(158;0.000315)|all_epithelial(67;0.00197)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)|Epithelial(105;0.000105)|all cancers(92;0.00217)		ACCATGGTTCCTACACCCAAC	0.458000														40			27		2.12542e-12	2.62166e-12	1	1	0
FPGT-TNNI3K	100526835	broad.mit.edu	37	1	74665459	74665459	+	Missense_Mutation	SNP	A	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:74665459A>T	uc001dge.2	+	1	261	c.194A>T	c.(193-195)gAg>gTg	p.E65V	LRRIQ3_uc001dfy.4_5'Flank|LRRIQ3_uc001dfz.4_5'Flank|FPGT-TNNI3K_uc001dgc.2_Missense_Mutation_p.E65V|FPGT-TNNI3K_uc001dgd.3_Missense_Mutation_p.E65V|FPGT-TNNI3K_uc010oqu.2_Missense_Mutation_p.E65V|FPGT-TNNI3K_uc001dgb.2_Missense_Mutation_p.E65V|FPGT-TNNI3K_uc010oqt.2_Missense_Mutation_p.E65V	NM_001112808	NP_001106279	Q59H18	TNI3K_HUMAN	Homo sapiens FPGT-TNNI3K readthrough (FPGT-TNNI3K), transcript variant 1, mRNA.	0						cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding										AAAAGAAAGGAGTTACCCCTT	0.428000														109			12		0	0	1	0	0
PXDN	7837	broad.mit.edu	37	2	1677432	1677432	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:1677432C>A	uc002qxa.3	-	8	1065	c.1001G>T	c.(1000-1002)aGg>aTg	p.R334M	PXDN_uc002qxb.1_Missense_Mutation_p.R334M|PXDN_uc002qxc.1_Missense_Mutation_p.R151M	NM_012293	NP_036425	Q92626	PXDN_HUMAN	Homo sapiens peroxidasin homolog (Drosophila) (PXDN), mRNA.	334					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		CCCGAAGTACCTGAGGGTCAC	0.552000														83			48		1.00953e-15	1.27403e-15	1	1	0
OR4K15	81127	broad.mit.edu	37	14	20443743	20443743	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:20443743A>G	uc010tkx.2	+	0	66	c.66A>G	c.(64-66)ccA>ccG	p.P22P		NM_001005486	NP_001005486	Q8NH41	OR4KF_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 15 (OR4K15), mRNA.	22					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L21I(1)		endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		AGTCCCTTCCAAAATCGATGA	0.383000														97			9		0	0	1	0	0
ZNF638	27332	broad.mit.edu	37	2	71577212	71577212	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:71577212G>T	uc002shx.3	+	1	1451	c.1128G>T	c.(1126-1128)caG>caT	p.Q376H	ZNF638_uc010fec.2_Missense_Mutation_p.Q482H|ZNF638_uc010yqw.1_Intron|ZNF638_uc002shw.3_Missense_Mutation_p.Q376H|ZNF638_uc002shz.3_Missense_Mutation_p.Q376H|ZNF638_uc002shy.3_Missense_Mutation_p.Q376H|ZNF638_uc002sia.3_Missense_Mutation_p.Q376H|ZNF638_uc002sib.1_Missense_Mutation_p.Q376H	NM_014497	NP_055312	Q14966	ZN638_HUMAN	Homo sapiens zinc finger protein 638 (ZNF638), transcript variant 1, mRNA.	376					RNA splicing	cytoplasm|nuclear speck	RNA binding|double-stranded DNA binding|nucleotide binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						ACCAGTCACAGGCTGACATTC	0.443000														115			8		1.12685e-05	1.25391e-05	1	1	0
ANKRD12	23253	broad.mit.edu	37	18	9258860	9258860	+	Silent	SNP	C	T	T	rs149491789	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:9258860C>T	uc002knv.3	+	8	5859	c.5595C>T	c.(5593-5595)gaC>gaT	p.D1865D	ANKRD12_uc002knw.3_Silent_p.D1842D|ANKRD12_uc002knx.3_Silent_p.D1842D|ANKRD12_uc010dkx.1_Silent_p.D1572D	NM_015208	NP_056023	Q6UB98	ANR12_HUMAN	Homo sapiens ankyrin repeat domain 12 (ANKRD12), transcript variant 1, mRNA.	1865						nucleus				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						AGTACTATGACGAATATGTAA	0.363000														76			34		0	0	1	0	0
PAN2	9924	broad.mit.edu	37	12	56716231	56716231	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56716231G>A	uc001skx.3	-	18	3062	c.2685C>T	c.(2683-2685)gaC>gaT	p.D895D	PAN2_uc001skw.3_Silent_p.D43D|PAN2_uc001sky.3_Silent_p.D891D|PAN2_uc001skz.3_Silent_p.D894D	NM_001127460	NP_001120932	Q504Q3	PAN2_HUMAN	Homo sapiens PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae) (PAN2), transcript variant 1, mRNA.	895					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						CAATAAGAAAGTCATTGAACA	0.403000														36			19		0	0	1	0	0
HERC1	8925	broad.mit.edu	37	15	63944624	63944624	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:63944624C>T	uc002amp.3	-	51	10555	c.10407G>A	c.(10405-10407)gtG>gtA	p.V3469V		NM_003922	NP_003913	Q15751	HERC1_HUMAN	Homo sapiens hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1 (HERC1), mRNA.	3469					protein modification process|transport	Golgi apparatus|cytosol|membrane	ARF guanyl-nucleotide exchange factor activity|acid-amino acid ligase activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						ATCTGTTGAACACACAGGTCT	0.383000														14			10		0	0	1	0	0
LCN8	138307	broad.mit.edu	37	9	139651520	139651520	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:139651520C>T	uc004cjb.1	-	1	474	c.125G>A	c.(124-126)aGt>aAt	p.S42N	LCN8_uc004cja.3_5'Flank|LCN8_uc004cjc.1_Missense_Mutation_p.S42N	NM_178469	NP_848564	Q6JVE9	LCN8_HUMAN	Homo sapiens lipocalin 8 (LCN8), mRNA.	65					transport	extracellular region	binding			endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)	10	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;5.56e-06)|Epithelial(140;8.32e-05)		GGTCAGGTTACTCCCGCTCAA	0.612000														9			13		0	0	1	0	0
DBN1	1627	broad.mit.edu	37	5	176893796	176893796	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:176893796G>A	uc003mgx.2	-	8	1036	c.754C>T	c.(754-756)Cgg>Tgg	p.R252W	DBN1_uc003mgy.2_Missense_Mutation_p.R250W|DBN1_uc010jkn.1_Missense_Mutation_p.R200W|DBN1_uc003mgz.1_Missense_Mutation_p.R187W	NM_080881	NP_543157	Q16643	DREB_HUMAN	Homo sapiens drebrin 1 (DBN1), transcript variant 2, mRNA.	250					actin filament organization|regulation of dendrite development|regulation of neuronal synaptic plasticity	actomyosin|cytoplasm|dendrite	actin binding|profilin binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(12)|ovary(1)|skin(2)	25	all_cancers(89;2.17e-05)|Renal(175;0.000269)|Lung NSC(126;0.0014)|all_lung(126;0.0025)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCCTTCAACCGCCTCTTGGCC	0.602000														137			87		0	0	1	0	0
TRIP13	9319	broad.mit.edu	37	5	901528	901528	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:901528C>T	uc003jbr.3	+	4	662	c.517C>T	c.(517-519)Cgg>Tgg	p.R173W	TRIP13_uc010ite.2_Missense_Mutation_p.R173W	NM_004237	NP_004228	Q15645	PCH2_HUMAN	Homo sapiens thyroid hormone receptor interactor 13 (TRIP13), transcript variant 1, mRNA.	173					double-strand break repair|reciprocal meiotic recombination|synaptonemal complex assembly|transcription from RNA polymerase II promoter		ATP binding|identical protein binding|nucleoside-triphosphatase activity|transcription cofactor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	18			Epithelial(17;0.00147)|OV - Ovarian serous cystadenocarcinoma(19;0.00271)|all cancers(22;0.00622)|Lung(60;0.165)			CACCTGGAACCGGGTGGTGCT	0.433000														20			13		0	0	1	0	0
FAM13B	51306	broad.mit.edu	37	5	137342722	137342722	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:137342722T>C	uc003lbz.2	-	6	1339	c.805A>G	c.(805-807)Atg>Gtg	p.M269V	FAM13B_uc003lcb.2_Missense_Mutation_p.M151V|FAM13B_uc003lca.2_Missense_Mutation_p.M269V	NM_016603	NP_057687	Q9NYF5	FA13B_HUMAN	Homo sapiens family with sequence similarity 13, member B (FAM13B), transcript variant 1, mRNA.	269					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			endometrium(4)|kidney(2)|lung(5)	11						TTTTCAGTCATCCTTAATTGT	0.373000														122			14		0	0	1	0	0
UTP20	27340	broad.mit.edu	37	12	101720944	101720944	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:101720944C>T	uc001tia.1	+	25	3283	c.3127C>T	c.(3127-3129)Cgg>Tgg	p.R1043W		NM_014503	NP_055318	O75691	UTP20_HUMAN	Homo sapiens UTP20, small subunit (SSU) processome component, homolog (yeast) (UTP20), mRNA.	1043					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						CATTGTCCTGCGGTTCCTGGC	0.478000														53			40		0	0	1	0	0
ANKAR	150709	broad.mit.edu	37	2	190585463	190585463	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:190585463G>T	uc002uqw.2	+	11	2673	c.2585G>T	c.(2584-2586)aGa>aTa	p.R862I	ANKAR_uc002uqu.3_Non-coding_Transcript|ANKAR_uc002uqx.2_Non-coding_Transcript	NM_144708	NP_653309	Q7Z5J8	ANKAR_HUMAN	Homo sapiens ankyrin and armadillo repeat containing (ANKAR), mRNA.	862						integral to membrane	binding			breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			AGAGCTGTGAGAGAACATAAA	0.313000														133			65		1.4051e-37	1.86512e-37	1	1	0
SLC12A7	10723	broad.mit.edu	37	5	1083924	1083924	+	Nonsense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:1083924G>T	uc003jbu.3	-	7	1131	c.1065C>A	c.(1063-1065)taC>taA	p.Y355*		NM_006598	NP_006589	Q9Y666	S12A7_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 7 (SLC12A7), mRNA.	355					potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	TCTGGATGAAGTACTCGTCAC	0.652000														28			18		6.94344e-10	8.32448e-10	1	1	0
A1CF	29974	broad.mit.edu	37	10	52566559	52566559	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:52566559G>T	uc001jjj.3	-	12	1903	c.1715C>A	c.(1714-1716)gCa>gAa	p.A572E	A1CF_uc010qho.2_Missense_Mutation_p.A580E|A1CF_uc010qhn.2_Missense_Mutation_p.A572E|A1CF_uc009xov.3_Missense_Mutation_p.A564E|A1CF_uc001jji.3_Missense_Mutation_p.A564E|A1CF_uc001jjh.3_Missense_Mutation_p.A572E	NM_138932	NP_620310	Q9NQ94	A1CF_HUMAN	Homo sapiens APOBEC1 complementation factor (A1CF), transcript variant 2, mRNA.	572					cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						GGTTGTATATGCTGCTAAGTC	0.478000														43			27		6.32553e-13	7.83728e-13	1	1	0
ANKRD13C	81573	broad.mit.edu	37	1	70736577	70736577	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:70736577A>G	uc001dex.4	-	11	1783	c.1457T>C	c.(1456-1458)gTt>gCt	p.V486A	ANKRD13C_uc009wbk.3_Missense_Mutation_p.V451A	NM_030816	NP_110443	Q8N6S4	AN13C_HUMAN	Homo sapiens ankyrin repeat domain 13C (ANKRD13C), mRNA.	486					protein retention in ER lumen|regulation of anoikis|regulation of receptor biosynthetic process	endoplasmic reticulum membrane|perinuclear region of cytoplasm	receptor binding	p.F485F(1)		endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	19						CTTCATCTGAACAAATTCTCT	0.308000														20			15		0	0	1	0	0
TPR	7175	broad.mit.edu	37	1	186292915	186292915	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:186292915G>A	uc001grv.3	-	42	6497	c.6200C>T	c.(6199-6201)gCc>gTc	p.A2067V	MIR548F1_uc021pgf.1_Intron	NM_003292	NP_003283	P12270	TPR_HUMAN	Homo sapiens translocated promoter region (to activated MET oncogene) (TPR), mRNA.	2067					carbohydrate metabolic process|glucose transport|mRNA transport|mitotic cell cycle spindle assembly checkpoint|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		TGCTCGAGGGGCCTGTCTTTC	0.517000			T	NTRK1	papillary thyroid									88			46		0	0	1	0	0
ZMAT3	64393	broad.mit.edu	37	3	178748770	178748770	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:178748770C>A	uc003fjg.3	-	2	619	c.288G>T	c.(286-288)aaG>aaT	p.K96N	ZMAT3_uc003fji.3_Missense_Mutation_p.K96N	NM_022470	NP_071915	Q9HA38	ZMAT3_HUMAN	Homo sapiens zinc finger, matrin-type 3 (ZMAT3), transcript variant 1, mRNA.	96					apoptosis|protein transport|regulation of growth|response to DNA damage stimulus|transmembrane transport	nucleolus	RNA binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(1)|skin(1)	14	all_cancers(143;3.31e-18)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;6.74e-27)|GBM - Glioblastoma multiforme(14;0.00448)|BRCA - Breast invasive adenocarcinoma(182;0.0527)			TTCGGAGTTTCTTACCATGAT	0.438000														36			22		9.04412e-07	1.02938e-06	1	1	0
TCRA	0	broad.mit.edu	37	14	22471692	22471692	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:22471692A>G	uc001wct.4	+	1	220	c.115A>G	c.(115-117)Aca>Gca	p.T39A	TCRA_uc001wbw.2_Intron|TCRA_uc021rpe.1_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|TCRA_uc021rpj.1_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Intron|TCRA_uc001wco.3_Intron|TCRA_uc010aje.1_Intron|TCRA_uc001wcp.2_Intron|TCRA_uc001wcr.1_Intron|TCRA_uc001wcs.1_Intron|TCRA_uc010ajf.1_Intron|TCRA_uc010tmm.2_Intron					Homo sapiens mRNA for T cell receptor alpha variable 19, partial cds, clone: SEB 336.																		GGCAGCTCTGACATTAAACTG	0.443000														51			26		0	0	1	0	0
UBN2	254048	broad.mit.edu	37	7	138969195	138969195	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:138969195G>A	uc011kqr.2	+	14	3544	c.3544G>A	c.(3544-3546)Gga>Aga	p.G1182R		NM_173569	NP_775840	Q6ZU65	UBN2_HUMAN	Homo sapiens ubinuclein 2 (UBN2), mRNA.	1182	Ser-rich.									NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						TAACTCAAGCGGAGCTAATAG	0.493000														26			34		0	0	1	0	0
HFE	3077	broad.mit.edu	37	6	26091284	26091284	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:26091284T>C	uc003nfx.1	+	1	452	c.292T>C	c.(292-294)Ttc>Ctc	p.F98L	HFE_uc003nfy.1_Missense_Mutation_p.F75L|HFE_uc010jqe.1_Missense_Mutation_p.F98L|HFE_uc003nfz.1_Intron|HFE_uc003ngd.1_Intron|HFE_uc003nga.1_Missense_Mutation_p.F98L|HFE_uc003ngb.1_Missense_Mutation_p.F98L|HFE_uc003ngc.1_Missense_Mutation_p.F98L|HFE_uc003nge.1_Intron|HFE_uc003ngf.1_Intron|HFE_uc021yms.1_5'Flank	NM_000410	NP_000401	Q30201	HFE_HUMAN	Homo sapiens hemochromatosis (HFE), transcript variant 1, mRNA.	98	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I|cellular iron ion homeostasis|immune response|iron ion transport|protein complex assembly|receptor-mediated endocytosis	MHC class I protein complex|apical part of cell|basal part of cell|cytoplasmic vesicle|early endosome|integral to plasma membrane|perinuclear region of cytoplasm|recycling endosome	protein binding			endometrium(3)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GGATCACATGTTCACTGTTGA	0.507000									Hemochromatosis					49			24		0	0	1	0	0
GFPT2	9945	broad.mit.edu	37	5	179743862	179743862	+	Splice_Site	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:179743862C>A	uc003mlw.1	-	12	1153	c.1055_splice	c.e12-1	p.V352_splice		NM_005110	NP_005101	O94808	GFPT2_HUMAN	Homo sapiens glutamine-fructose-6-phosphate transaminase 2 (GFPT2), mRNA.	352					UDP-N-acetylglucosamine biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	CCCAGGAGCACTGCAGGGCAC	0.587000														37			5		0.000602214	0.000641151	1	1	0
ADRBK1	156	broad.mit.edu	37	11	67049162	67049162	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:67049162G>A	uc009yrn.1	+	9	1055	c.789G>A	c.(787-789)acG>acA	p.T263T		NM_001619	NP_001610	P25098	ARBK1_HUMAN	Homo sapiens adrenergic, beta, receptor kinase 1 (ADRBK1), mRNA.	263	Protein kinase.				activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway	cytosol|soluble fraction	ATP binding|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|alpha-2A adrenergic receptor binding|beta-adrenergic receptor kinase activity|signal transducer activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	CGTTCCACACGCCAGACAAGC	0.657000														25			26		0	0	1	0	0
TRAPPC11	60684	broad.mit.edu	37	4	184615145	184615145	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:184615145C>T	uc003ivx.3	+	21	2664	c.2462C>T	c.(2461-2463)gCt>gTt	p.A821V	TRAPPC11_uc003ivw.3_Missense_Mutation_p.A821V|TRAPPC11_uc010isc.3_Missense_Mutation_p.A165V|TRAPPC11_uc003ivy.3_Missense_Mutation_p.A427V	NM_021942	NP_068761	Q7Z392	CD041_HUMAN	Homo sapiens trafficking protein particle complex 11 (TRAPPC11), transcript variant 1, mRNA.	821																	TCCTACCCGGCTTTACTCACT	0.403000														88			36		0	0	1	0	0
ATPAF1	64756	broad.mit.edu	37	1	47101574	47101574	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:47101574G>T	uc001cqh.3	-	8	966	c.861C>A	c.(859-861)acC>acA	p.T287T	ATPAF1_uc021onc.1_Silent_p.T81T|ATPAF1_uc009vyk.3_Silent_p.T136T|ATPAF1_uc010omg.2_Silent_p.T199T|ATPAF1_uc001cqi.3_Silent_p.T219T	NM_022745	NP_073582	Q5TC12	ATPF1_HUMAN	Homo sapiens ATP synthase mitochondrial F1 complex assembly factor 1 (ATPAF1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	287					protein complex assembly	mitochondrion	protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)	8	Acute lymphoblastic leukemia(166;0.155)					CTAACCCGTAGGTCTCTTTCC	0.443000														216			18		5.03518e-11	6.129e-11	1	1	0
RP1L1	94137	broad.mit.edu	37	8	10470315	10470315	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:10470315G>A	uc003wtc.3	-	3	1522	c.1293C>T	c.(1291-1293)caC>caT	p.H431H		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	431					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TGCAGCGGACGTGCTGGGCCA	0.687000														39			9		0	0	1	0	0
ZSCAN20	7579	broad.mit.edu	37	1	33960018	33960018	+	Nonsense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:33960018G>T	uc001bxj.4	+	7	2241	c.2074G>T	c.(2074-2076)Gag>Tag	p.E692*	ZSCAN20_uc009vui.3_Nonsense_Mutation_p.E691*	NM_145238	NP_660281	P17040	ZSC20_HUMAN	Homo sapiens zinc finger and SCAN domain containing 20 (ZSCAN20), mRNA.	692					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				TTCTTCTGAAGAGGACTTAGA	0.463000														83			8		7.48243e-07	8.52591e-07	1	1	0
LRRIQ1	84125	broad.mit.edu	37	12	85450485	85450485	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:85450485A>G	uc001tac.3	+	7	2025	c.1914A>G	c.(1912-1914)aaA>aaG	p.K638K	LRRIQ1_uc021rbo.1_Silent_p.K516K|LRRIQ1_uc001taa.1_Silent_p.K613K	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 1 (LRRIQ1), mRNA.	638								p.S637*(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		TTTATTCAAAATCCAAAGAAA	0.299000														26			19		0	0	1	0	0
C7orf43	55262	broad.mit.edu	37	7	99754506	99754506	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:99754506G>T	uc003utr.3	-	5	1135	c.955C>A	c.(955-957)Ctg>Atg	p.L319M	C7orf43_uc010lgo.3_5'Flank|C7orf43_uc010lgp.3_5'UTR|C7orf43_uc011kjj.2_Missense_Mutation_p.L87M|C7orf43_uc003uts.3_Missense_Mutation_p.L50M|C7orf43_uc022aih.1_5'Flank	NM_018275	NP_060745	Q8WVR3	CG043_HUMAN	Homo sapiens chromosome 7 open reading frame 43 (C7orf43), mRNA.	319										breast(1)|endometrium(3)|large_intestine(3)|lung(2)|prostate(1)	10	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CCCCCTCTCAGCTGAAACAGG	0.602000														114			9		2.17888e-05	2.40634e-05	1	1	0
C15orf57	90416	broad.mit.edu	37	15	40855059	40855059	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:40855059G>A	uc001zma.1	-	1	456	c.183C>T	c.(181-183)ggC>ggT	p.G61G	C15orf57_uc001zly.3_Silent_p.G50G|C15orf57_uc001zmc.1_Silent_p.G52G|C15orf57_uc001zmb.1_Silent_p.G52G|C15orf57_uc010bbr.3_Silent_p.G50G	NM_001080791	NP_443081	Q9BV29	CO057_HUMAN	Homo sapiens chromosome 15 open reading frame 57 (C15orf57), transcript variant 3, mRNA.	52										endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	9						CCTCCCTCTGGCCTTCACCTT	0.493000														85			48		0	0	1	0	0
ZNF565	147929	broad.mit.edu	37	19	36673579	36673579	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:36673579C>T	uc002odn.3	-	4	1397	c.1289G>A	c.(1288-1290)cGt>cAt	p.R430H	ZNF565_uc010ees.3_Missense_Mutation_p.R365H|ZNF565_uc002odo.3_Missense_Mutation_p.R430H	NM_152477	NP_689690	Q8N9K5	ZN565_HUMAN	Homo sapiens zinc finger protein 565 (ZNF565), transcript variant 2, mRNA.	430					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(4)|lung(4)|ovary(1)|skin(2)	11	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.206)			TTGTGAAACACGAATAAAGGC	0.428000														29			24		0	0	1	0	0
STK3	6788	broad.mit.edu	37	8	99718840	99718840	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:99718840G>A	uc003yio.3	-	7	1097	c.623C>T	c.(622-624)aCt>aTt	p.T208I	STK3_uc003yip.3_Missense_Mutation_p.T180I|STK3_uc010mbm.1_Intron	NM_006281	NP_006272	Q13188	STK3_HUMAN	Homo sapiens serine/threonine kinase 3 (STK3), transcript variant 1, mRNA.	180	Protein kinase.				apoptosis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of apoptosis	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein dimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17	Breast(36;2.4e-06)	Breast(495;0.106)	OV - Ovarian serous cystadenocarcinoma(57;0.0382)	KIRC - Kidney renal clear cell carcinoma(542;9.44e-06)		TCCTATTACAGTATTGCGTTT	0.378000														98			7		0	0	1	0	0
LRRC1	55227	broad.mit.edu	37	6	53762158	53762158	+	Splice_Site	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:53762158G>A	uc003pcd.1	+	7	1163	c.642_splice	c.e7+1	p.Q214_splice		NM_018214	NP_060684	Q9BTT6	LRRC1_HUMAN	Homo sapiens leucine rich repeat containing 1 (LRRC1), mRNA.	214						cytoplasm|membrane				cervix(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Lung NSC(77;0.0147)			BRCA - Breast invasive adenocarcinoma(397;0.0745)		ATTACCTCAGGTAAGTGGTAA	0.368000														6			14		0	0	1	0	0
RPL32P3	132241	broad.mit.edu	37	3	129116154	129116154	+	RNA	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:129116154G>T	uc003eme.1	-	0		c.644C>A			RPL32P3_uc003ema.3_Intron|RPL32P3_uc003emb.3_Intron|RPL32P3_uc003emd.1_Intron|RPL32P3_uc003emf.2_Non-coding_Transcript					Homo sapiens ribosomal protein L32 pseudogene 3 (RPL32P3), non-coding RNA.											lung(1)	1						GAAGCTGGCAGAATACTAGGC	0.547000														63			27		3.65163e-15	4.59487e-15	1	1	0
GPR179	440435	broad.mit.edu	37	17	36499492	36499492	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:36499492C>T	uc002hpz.3	-	0	202	c.181G>A	c.(181-183)Gct>Act	p.A61T		NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN	Homo sapiens G protein-coupled receptor 179 (GPR179), mRNA.	61						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.A61T(2)		breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				TAGAGATAAGCGAGGGCGGCC	0.637000														31			12		0	0	1	0	0
PDK4	5166	broad.mit.edu	37	7	95217073	95217073	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:95217073A>G	uc003uoa.3	-	7	1156	c.836T>C	c.(835-837)aTt>aCt	p.I279T	PDK4_uc003unz.3_Missense_Mutation_p.I67T	NM_002612	NP_002603	Q16654	PDK4_HUMAN	Homo sapiens pyruvate dehydrogenase kinase, isozyme 4 (PDK4), nuclear gene encoding mitochondrial protein, mRNA.	279	Histidine kinase.				glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15	all_cancers(62;1.06e-10)|all_epithelial(64;1.04e-09)|Lung NSC(181;0.128)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0151)			CAAGACAACAATAACCTCTAT	0.383000														56			4		0	0	1	0	0
NFATC1	4772	broad.mit.edu	37	18	77246297	77246297	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:77246297C>A	uc010xfg.2	+	8	2595	c.2142C>A	c.(2140-2142)acC>acA	p.T714T	NFATC1_uc002lnd.3_Silent_p.T714T|NFATC1_uc002lne.3_Silent_p.T242T|NFATC1_uc010xfh.2_Intron|NFATC1_uc010xfj.2_Silent_p.T242T|NFATC1_uc002lnf.3_Silent_p.T701T|NFATC1_uc002lng.3_Silent_p.T701T|NFATC1_uc010xfk.2_Intron	NM_006162	NP_006153	O95644	NFAC1_HUMAN	Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1 (NFATC1), transcript variant 2, mRNA.	714	Trans-activation domain B (TAD-B).				intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)		CTGCTCCAACCTGTGGACCGG	0.502000														232			22		2.32416e-17	2.96135e-17	1	1	0
ANXA6	309	broad.mit.edu	37	5	150488054	150488054	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:150488054T>C	uc003ltl.2	-	22	1970	c.1742A>G	c.(1741-1743)gAg>gGg	p.E581G	ANXA6_uc011dcp.2_Missense_Mutation_p.E549G|ANXA6_uc003lto.2_Missense_Mutation_p.E168G	NM_001155	NP_001180473	P08133	ANXA6_HUMAN	Homo sapiens annexin A6 (ANXA6), transcript variant 1, mRNA.	581						melanosome	calcium ion binding|calcium-dependent phospholipid binding|protein binding			endometrium(2)|kidney(1)|lung(9)	12		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCCAGACATCTCCTTCTTGAT	0.537000														114			83		0	0	1	0	0
KCNK16	83795	broad.mit.edu	37	6	39290160	39290160	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:39290160G>A	uc003oor.4	-	0	171	c.157C>T	c.(157-159)Cgc>Tgc	p.R53C	KCNK16_uc003ooq.3_Missense_Mutation_p.R53C|KCNK16_uc010jwy.3_Missense_Mutation_p.R53C|KCNK16_uc011dtz.1_Missense_Mutation_p.R53C	NM_001135105	NP_001128577	Q96T55	KCNKG_HUMAN	Homo sapiens potassium channel, subfamily K, member 16 (KCNK16), transcript variant 1, mRNA.	53						integral to membrane	potassium channel activity|voltage-gated ion channel activity			large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)	13						TCCAGGAAGCGCAGCTTCTCC	0.592000														15			7		0	0	1	0	0
WDR33	55339	broad.mit.edu	37	2	128476856	128476856	+	Missense_Mutation	SNP	G	A	A	rs138525316		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:128476856G>A	uc002tpg.2	-	15	2942	c.2743C>T	c.(2743-2745)Cgg>Tgg	p.R915W		NM_018383	NP_060853	Q9C0J8	WDR33_HUMAN	Homo sapiens WD repeat domain 33 (WDR33), transcript variant 1, mRNA.	915					postreplication repair|spermatogenesis	collagen|nucleus	protein binding			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		AAGGGGGCCCGGGGCCCATCA	0.517000														151			10		0	0	1	0	0
IL1RAPL2	26280	broad.mit.edu	37	X	104999317	104999317	+	Nonsense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:104999317G>T	uc004elz.1	+	9	2095	c.1339G>T	c.(1339-1341)Gaa>Taa	p.E447*		NM_017416	NP_059112	Q9NP60	IRPL2_HUMAN	Homo sapiens interleukin 1 receptor accessory protein-like 2 (IL1RAPL2), mRNA.	447	TIR.				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CTTCATCCCAGAAAGAGACCT	0.373000														91			44		2.77807e-22	3.60736e-22	1	1	0
TYR	7299	broad.mit.edu	37	11	88911756	88911756	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:88911756G>T	uc001pcs.3	+	0	717	c.635G>T	c.(634-636)aGa>aTa	p.R212I		NM_000372	NP_000363	P14679	TYRO_HUMAN	Homo sapiens tyrosinase (oculocutaneous albinism IA) (TYR), mRNA.	212					eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)	CCTTGGCATAGACTCTTCTTG	0.453000														78			47		2.01872e-29	2.66072e-29	1	1	0
ZNRF2	223082	broad.mit.edu	37	7	30363339	30363339	+	Missense_Mutation	SNP	G	A	A	rs142290977		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:30363339G>A	uc003tat.3	+	1	1602	c.551G>A	c.(550-552)cGa>cAa	p.R184Q		NM_147128	NP_667339	Q8NHG8	ZNRF2_HUMAN	Homo sapiens zinc and ring finger 2 (ZNRF2), mRNA.	184						cell junction|endosome membrane|lysosomal membrane|presynaptic membrane	ligase activity|zinc ion binding	p.R184L(2)		breast(1)|endometrium(1)|lung(2)|prostate(1)	5						ACAAAGCCACGAATAACCTAT	0.269000														96			29		0	0	1	0	0
DSC1	1823	broad.mit.edu	37	18	28720060	28720060	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:28720060C>T	uc002kwn.3	-	9	1727	c.1465G>A	c.(1465-1467)Gaa>Aaa	p.E489K	DSC1_uc002kwm.3_Missense_Mutation_p.E489K	NM_024421	NP_077739	Q08554	DSC1_HUMAN	Homo sapiens desmocollin 1 (DSC1), transcript variant Dsc1a, mRNA.	489	Cadherin 4.				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding	p.E489*(3)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			CCAAGGAGTTCTTGGCCAGCT	0.428000														58			38		0	0	1	0	0
LGR5	8549	broad.mit.edu	37	12	71977622	71977622	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:71977622C>A	uc001swl.3	+	17	1880	c.1832C>A	c.(1831-1833)gCc>gAc	p.A611D	LGR5_uc001swm.3_Missense_Mutation_p.A587D|LGR5_uc021rar.1_Missense_Mutation_p.A539D|LGR5_uc001swn.1_Non-coding_Transcript	NM_003667	NP_003658	O75473	LGR5_HUMAN	Homo sapiens leucine-rich repeat containing G protein-coupled receptor 5 (LGR5), mRNA.	611						integral to plasma membrane	protein-hormone receptor activity		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						GTCTCCAGTGCCGTGCTGGCT	0.512000														44			29		8.16721e-17	1.03702e-16	1	1	0
UBR5	51366	broad.mit.edu	37	8	103288036	103288036	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:103288036C>T	uc003ykr.2	-	45	6985	c.6530G>A	c.(6529-6531)gGa>gAa	p.G2177E	UBR5_uc003yks.2_Missense_Mutation_p.G2177E	NM_015902	NP_056986	O95071	UBR5_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 5 (UBR5), mRNA.	2177					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	RNA binding|protein binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			AATAACCATTCCCATAAAGCT	0.443000														32			12		0	0	1	0	0
ZNF276	92822	broad.mit.edu	37	16	89799811	89799811	+	Missense_Mutation	SNP	G	A	A	rs148047906		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:89799811G>A	uc002fos.4	+	6	1368	c.1271G>A	c.(1270-1272)cGt>cAt	p.R424H	ZNF276_uc010ciq.3_Missense_Mutation_p.R210H|ZNF276_uc002foq.4_Missense_Mutation_p.R349H|ZNF276_uc010cir.3_Non-coding_Transcript|ZNF276_uc002for.4_Missense_Mutation_p.R210H|ZNF276_uc010cis.3_Missense_Mutation_p.R183H|ZNF276_uc002fot.4_Non-coding_Transcript|ZNF276_uc010vpm.2_Missense_Mutation_p.R262H|ZNF276_uc010cit.2_Missense_Mutation_p.R183H	NM_001113525	NP_001106997	Q8N554	ZN276_HUMAN	Homo sapiens zinc finger protein 276 (ZNF276), transcript variant a, mRNA.	424					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)	14		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		AAGAAGCTTCGTTGTGAGAGG	0.562000														151			8		0	0	1	0	0
DZIP1L	199221	broad.mit.edu	37	3	137790485	137790485	+	Splice_Site	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:137790485C>A	uc003erq.3	-	12	1978	c.1615_splice	c.e12+1	p.V539_splice	DZIP1L_uc003err.1_Splice_Site_p.G539_splice	NM_173543	NP_775814	Q8IYY4	DZI1L_HUMAN	Homo sapiens DAZ interacting protein 1-like (DZIP1L), transcript variant 1, mRNA.	539						intracellular	zinc ion binding			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	35						CCCAGTGTACCTGAAGGCTGC	0.562000														25			13		7.03913e-09	8.30711e-09	1	1	0
PPP2R2D	55844	broad.mit.edu	37	10	133769401	133769401	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:133769401C>T	uc001lks.3	+	6	1198	c.1197C>T	c.(1195-1197)ccC>ccT	p.P399P	PPP2R2D_uc001lkr.3_Silent_p.P205P|PPP2R2D_uc001lkt.3_Silent_p.P205P|PPP2R2D_uc009yay.3_Silent_p.P267P	NM_018461	NP_060931	Q66LE6	2ABD_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B, delta (PPP2R2D), transcript variant 1, mRNA.	432					cell division|exit from mitosis|mitosis|signal transduction	cytoplasm|protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity			endometrium(3)|large_intestine(3)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13		all_cancers(35;2.16e-12)|all_epithelial(44;2.77e-09)|Lung NSC(174;0.00237)|all_lung(145;0.00354)|Colorectal(31;0.0124)|Breast(234;0.023)|all_neural(114;0.0299)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;7.86e-05)|Epithelial(32;8.82e-05)|all cancers(32;0.000106)|BRCA - Breast invasive adenocarcinoma(275;0.21)		CCTGGCACCCCGTGGACAATG	0.522000														17			7		0	0	1	0	0
SEPT9	10801	broad.mit.edu	37	17	75398611	75398611	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:75398611G>A	uc002jts.4	+	2	673	c.547G>A	c.(547-549)Gca>Aca	p.A183T	SEPT9_uc010wtk.2_Missense_Mutation_p.A164T|SEPT9_uc002jtt.4_Missense_Mutation_p.A19T|SEPT9_uc002jtu.4_Missense_Mutation_p.A165T|SEPT9_uc002jtv.3_Missense_Mutation_p.A176T|SEPT9_uc002jtw.3_Missense_Mutation_p.A19T|SEPT9_uc002jtx.1_Missense_Mutation_p.A19T|SEPT9_uc010wtl.2_5'Flank	NM_001113491	NP_001106968	Q9UHD8	SEPT9_HUMAN	Homo sapiens septin 9 (SEPT9), transcript variant 1, mRNA.	183					cell cycle|cell division|protein heterooligomerization	microtubule|perinuclear region of cytoplasm|stress fiber	GTP binding|GTPase activity|protein binding	p.A183T(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)	16			BRCA - Breast invasive adenocarcinoma(99;0.153)			TGCCACCGACGCAGCCCCCAA	0.677000														3			5		0	0	1	0	0
LGR4	55366	broad.mit.edu	37	11	27390141	27390141	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:27390141A>G	uc001mrj.4	-	17	2614	c.2129T>C	c.(2128-2130)tTa>tCa	p.L710S	LGR4_uc001mrk.4_Missense_Mutation_p.L686S	NM_018490	NP_060960	Q9BXB1	LGR4_HUMAN	Homo sapiens leucine-rich repeat containing G protein-coupled receptor 4 (LGR4), mRNA.	710						integral to membrane|plasma membrane	protein-hormone receptor activity	p.T709T(1)		NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						TAATAGCACTAACGTTACAGT	0.398000														85			12		0	0	1	0	0
UTRN	7402	broad.mit.edu	37	6	144844245	144844245	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:144844245G>T	uc003qkt.3	+	39	5919	c.5827G>T	c.(5827-5829)Gcc>Tcc	p.A1943S		NM_007124	NP_009055	P46939	UTRO_HUMAN	Homo sapiens utrophin (UTRN), mRNA.	1943					muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		TGGACCTGAAGCCATTCAGAT	0.383000														31			15		1.3612e-06	1.54683e-06	1	1	0
LRBA	987	broad.mit.edu	37	4	151829607	151829607	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:151829607C>T	uc010ipj.3	-	10	1616	c.1372G>A	c.(1372-1374)Gtt>Att	p.V458I	LRBA_uc003ilu.4_Missense_Mutation_p.V458I|LRBA_uc010ipk.1_Missense_Mutation_p.V377I	NM_006726	NP_006717	P50851	LRBA_HUMAN	Homo sapiens LPS-responsive vesicle trafficking, beach and anchor containing (LRBA), transcript variant 2, mRNA.	458						Golgi apparatus|endoplasmic reticulum|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					TGTGTTAAAACTGCCTTTACA	0.328000														26			8		0	0	1	0	0
RBM12B	389677	broad.mit.edu	37	8	94748355	94748355	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:94748355C>T	uc022aye.1	-	0	284	c.284G>A	c.(283-285)cGt>cAt	p.R95H	RBM12B_uc003yfz.3_Missense_Mutation_p.R95H	NM_203390	NP_976324	Q8IXT5	RB12B_HUMAN	Homo sapiens RNA binding motif protein 12B (RBM12B), mRNA.	95							RNA binding|nucleotide binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			AGATCCTGGACGCCCTCTTCC	0.408000														121			64		0	0	1	0	0
LRIG1	26018	broad.mit.edu	37	3	66465424	66465424	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:66465424C>T	uc003dmx.3	-	4	581	c.567G>A	c.(565-567)tcG>tcA	p.S189S	LRIG1_uc010hnz.3_5'UTR|LRIG1_uc010hoa.3_Silent_p.S189S	NM_015541	NP_056356	Q96JA1	LRIG1_HUMAN	Homo sapiens leucine-rich repeats and immunoglobulin-like domains 1 (LRIG1), mRNA.	189						integral to membrane				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		GAGTTAGCAGCGACCGTGACA	0.502000														44			29		0	0	1	0	0
SEMA3E	9723	broad.mit.edu	37	7	83032043	83032043	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:83032043G>A	uc003uhy.2	-	9	1669	c.1048C>T	c.(1048-1050)Cgg>Tgg	p.R350W	SEMA3E_uc022agy.1_Missense_Mutation_p.R290W	NM_012431	NP_001171600	O15041	SEM3E_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E (SEMA3E), transcript variant 1, mRNA.	350	Sema.				axon guidance	extracellular space|membrane	receptor activity			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				AAGGCTGCCCGAATGCTAGAC	0.408000														44			23		0	0	1	0	0
AP2A2	161	broad.mit.edu	37	11	977142	977142	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:977142G>A	uc001lst.2	+	4	734	c.521G>A	c.(520-522)cGc>cAc	p.R174H	AP2A2_uc009yco.2_Non-coding_Transcript|AP2A2_uc001lss.3_Missense_Mutation_p.R174H|AP2A2_uc001lsu.1_Missense_Mutation_p.R47H	NM_001242837	NP_001229766	O94973	AP2A2_HUMAN	Homo sapiens adaptor-related protein complex 2, alpha 2 subunit (AP2A2), transcript variant 1, mRNA.	174					axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|cytosol	lipid binding|protein transporter activity			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)	21		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)		TGCTTGCTGCGCCTGTACAGG	0.587000														21			8		0	0	1	0	0
TLR3	7098	broad.mit.edu	37	4	187004162	187004162	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:187004162A>C	uc003iyq.3	+	3	1423	c.1322A>C	c.(1321-1323)aAt>aCt	p.N441T	TLR3_uc011ckz.2_Missense_Mutation_p.N164T|TLR3_uc003iyr.3_Missense_Mutation_p.N164T	NM_003265	NP_003256	O15455	TLR3_HUMAN	Homo sapiens toll-like receptor 3 (TLR3), mRNA.	441					I-kappaB phosphorylation|MyD88-independent toll-like receptor signaling pathway|activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|inflammatory response|innate immune response|negative regulation of osteoclast differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		CTGGGCCTTAATGAAATTGGG	0.418000														60			4		0	0	1	0	0
GJB6	10804	broad.mit.edu	37	13	20797204	20797204	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:20797204C>T	uc001und.4	-	2	803	c.416G>A	c.(415-417)aGc>aAc	p.S139N	GJB6_uc001umz.4_Missense_Mutation_p.S139N|GJB6_uc001unb.4_Missense_Mutation_p.S139N|GJB6_uc001unc.4_Missense_Mutation_p.S139N|GJB6_uc001una.4_Missense_Mutation_p.S139N|GJB6_uc021rhb.1_Missense_Mutation_p.S139N	NM_001110221	NP_006774	O95452	CXB6_HUMAN	Homo sapiens gap junction protein, beta 6, 30kDa (GJB6), transcript variant 4, mRNA.	139			S -> G.		cell communication|sensory perception of sound	connexon complex|integral to membrane|intracellular membrane-bounded organelle				biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)	9		all_cancers(29;2.04e-22)|all_epithelial(30;1.19e-19)|all_lung(29;2.27e-18)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;2.17e-05)|Epithelial(112;0.00075)|OV - Ovarian serous cystadenocarcinoma(117;0.00978)|Lung(94;0.0238)|GBM - Glioblastoma multiforme(144;0.0323)|LUSC - Lung squamous cell carcinoma(192;0.0744)		GAAAAAGATGCTGCTGGTGTA	0.453000														26			11		0	0	1	0	0
SLC6A14	11254	broad.mit.edu	37	X	115573909	115573909	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:115573909T>C	uc004eqi.3	+	3	532	c.401T>C	c.(400-402)gTc>gCc	p.V134A	SLC6A14_uc011mtm.2_Intron	NM_007231	NP_009162	Q9UN76	S6A14_HUMAN	Homo sapiens solute carrier family 6 (amino acid transporter), member 14 (SLC6A14), mRNA.	134					cellular amino acid metabolic process|response to toxin	integral to membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23					L-Proline(DB00172)	TATTACAATGTCATAATTGCC	0.318000														156			9		0	0	1	0	0
TCL1A	8115	broad.mit.edu	37	14	96178700	96178700	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:96178700G>A	uc001yfc.4	-	1	284	c.154C>T	c.(154-156)Cgt>Tgt	p.R52C	TCL1A_uc001yfb.4_Missense_Mutation_p.R52C	NM_001098725	NP_068801	P56279	TCL1A_HUMAN	Homo sapiens T-cell leukemia/lymphoma 1A (TCL1A), transcript variant 2, mRNA.	52					multicellular organismal development	endoplasmic reticulum|microsome				haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|prostate(1)|skin(1)	12		all_cancers(154;0.103)		COAD - Colon adenocarcinoma(157;0.205)|Epithelial(152;0.248)		TCTTCCCGACGCAAGAGCACC	0.567000			T	TRA@	T-CLL									40			26		0	0	1	0	0
ARID2	196528	broad.mit.edu	37	12	46231168	46231168	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:46231168T>C	uc001ros.1	+	8	1088	c.1088T>C	c.(1087-1089)cTa>cCa	p.L363P	ARID2_uc001ror.3_Missense_Mutation_p.L363P|ARID2_uc009zkg.1_5'UTR|ARID2_uc009zkh.1_Missense_Mutation_p.L9P|ARID2_uc001rot.1_Missense_Mutation_p.L9P	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	Homo sapiens AT rich interactive domain 2 (ARID, RFX-like) (ARID2), mRNA.	363					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		ACAAAATGTCTAATGTCAAGG	0.303000			"""N, S, F"""		hepatocellular carcinoma									82			10		0	0	1	0	0
DST	667	broad.mit.edu	37	6	56417281	56417281	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:56417281C>T	uc003pcy.4	-	41	8548	c.8440G>A	c.(8440-8442)Gca>Aca	p.A2814T		NM_015548	NP_056363	Q03001	DYST_HUMAN	Homo sapiens dystonin (DST), transcript variant 1eA, mRNA.	5226					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	Z disc|actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein C-terminus binding|protein binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TCATTGCTTGCCATGAGGGCT	0.433000														26			20		0	0	1	0	0
CAND1	55832	broad.mit.edu	37	12	67686508	67686508	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:67686508A>G	uc001stn.2	+	2	756	c.319A>G	c.(319-321)Agt>Ggt	p.S107G		NM_018448	NP_060918	Q86VP6	CAND1_HUMAN	Homo sapiens cullin-associated and neddylation-dissociated 1 (CAND1), mRNA.	107					cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		AGACATTTCAAGTATTGGTCT	0.368000														82			55		0	0	1	0	0
TMEM120A	83862	broad.mit.edu	37	7	75621548	75621548	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:75621548C>A	uc003ued.3	-	3	332	c.228G>T	c.(226-228)gaG>gaT	p.E76D	TMEM120A_uc003uec.2_5'UTR|TMEM120A_uc022agl.1_5'UTR	NM_031925	NP_114131	Q9BXJ8	T120A_HUMAN	Homo sapiens transmembrane protein 120A (TMEM120A), mRNA.	77						integral to membrane											GTGCGGCCCCCTCGGCCTCTG	0.602000														124			9		7.03913e-09	8.30711e-09	1	1	0
ZBTB46	140685	broad.mit.edu	37	20	62421634	62421634	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:62421634C>T	uc002ygv.2	-	1	678	c.477G>A	c.(475-477)tcG>tcA	p.S159S	ZBTB46_uc002ygu.3_Non-coding_Transcript	NM_025224	NP_079500	Q86UZ6	ZBT46_HUMAN	Homo sapiens zinc finger and BTB domain containing 46 (ZBTB46), mRNA.	159					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					CCATCACGGCCGAGATGAGAG	0.642000														5			3		0	0	1	0	0
IL21R	50615	broad.mit.edu	37	16	27460361	27460361	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:27460361C>T	uc002dor.2	+	9	1988	c.1440C>T	c.(1438-1440)gaC>gaT	p.D480D	IL21R_uc002doq.2_Silent_p.D458D|IL21R_uc002dos.2_Silent_p.D458D|LOC283888_uc002dot.3_Non-coding_Transcript	NM_181079	NP_851565	Q9HBE5	IL21R_HUMAN	Homo sapiens interleukin 21 receptor (IL21R), transcript variant 3, mRNA.	458					natural killer cell activation	integral to membrane	interleukin-21 receptor activity			breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						ATGGGGAGGACTGGGCTGGGG	0.662000			T	BCL6	NHL									24			11		0	0	1	0	0
PUM1	9698	broad.mit.edu	37	1	31454233	31454233	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:31454233G>A	uc001bsi.1	-	7	1291	c.1178C>T	c.(1177-1179)gCg>gTg	p.A393V	PUM1_uc001bsf.1_Missense_Mutation_p.A54V|PUM1_uc001bsh.1_Missense_Mutation_p.A393V|PUM1_uc001bsj.1_Missense_Mutation_p.A393V|PUM1_uc010oga.1_Missense_Mutation_p.A297V|PUM1_uc001bsk.1_Missense_Mutation_p.A429V|PUM1_uc010ogb.1_Missense_Mutation_p.A333V	NM_014676	NP_055491	Q14671	PUM1_HUMAN	Homo sapiens pumilio homolog 1 (Drosophila) (PUM1), transcript variant 2, mRNA.	393	Ala-rich.				cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		GACAGCAAGCGCATTAGGTCT	0.463000														32			20		0	0	1	0	0
NF1	4763	broad.mit.edu	37	17	29557866	29557866	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:29557866G>T	uc002hgg.3	+	23	3503	c.3120G>T	c.(3118-3120)aaG>aaT	p.K1040N	NF1_uc002hgh.3_Missense_Mutation_p.K1040N|NF1_uc010csn.2_Missense_Mutation_p.K900N|NF1_uc002hgi.1_Missense_Mutation_p.K73N	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	1040					MAPKKK cascade|Ras protein signal transduction|actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	Ras GTPase activator activity|protein binding	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		ATAGGAATAAGATGGTAGAAT	0.363000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				21			3		0.004672	0.00486265	1	1	0
GNL2	29889	broad.mit.edu	37	1	38048423	38048423	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:38048423T>C	uc001cbk.3	-	6	914	c.751A>G	c.(751-753)Att>Gtt	p.I251V	GNL2_uc010oif.1_Missense_Mutation_p.I92V	NM_013285	NP_037417	Q13823	NOG2_HUMAN	Homo sapiens guanine nucleotide binding protein-like 2 (nucleolar) (GNL2), mRNA.	251					ribosome biogenesis	nucleolus	GTP binding|GTPase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	30		Myeloproliferative disorder(586;0.0393)				AGTACAAAAATGAGGTGTTTC	0.383000														122			15		0	0	1	0	0
BRD3	8019	broad.mit.edu	37	9	136901413	136901413	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:136901413G>T	uc004cew.3	-	9	1865	c.1677C>A	c.(1675-1677)gcC>gcA	p.A559A	BRD3_uc004cex.2_3'UTR	NM_007371	NP_031397	Q15059	BRD3_HUMAN	Homo sapiens bromodomain containing 3 (BRD3), mRNA.	559						nucleus	protein binding		BRD3/C15orf55(3)	kidney(1)|skin(1)|stomach(4)	6				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		AGTCGTAGGAGGCAGATGCCT	0.612000			T	C15orf55	lethal midline carcinoma of young people									41			4		0.000602214	0.000641151	1	1	0
PAK1	5058	broad.mit.edu	37	11	77090938	77090938	+	Splice_Site	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:77090938C>T	uc001oyh.4	-	3	824	c.291_splice	c.e3+1	p.T97_splice	PAK1_uc010rso.2_Splice_Site|PAK1_uc001oyg.4_Splice_Site_p.T97_splice|PAK1_uc001oyi.1_Splice_Site_p.T97_splice	NM_002576	NP_002567	Q13153	PAK1_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 1 (PAK1), transcript variant 2, mRNA.	97	Autoregulatory region.|GTPase-binding (By similarity).				ER-nucleus signaling pathway|T cell costimulation|T cell receptor signaling pathway|apoptosis|axon guidance|cytoskeleton organization|positive regulation of JUN kinase activity|positive regulation of peptidyl-serine phosphorylation|protein autophosphorylation	Golgi apparatus|cytosol|focal adhesion	ATP binding|collagen binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(13)|skin(2)|stomach(1)	29	all_cancers(14;1.75e-18)					CCAGGACTTACCGTAAACTCC	0.423000														53			21		0	0	1	0	0
PRICKLE1	144165	broad.mit.edu	37	12	42860069	42860069	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:42860069G>A	uc010skv.2	-	5	989	c.702C>T	c.(700-702)gaC>gaT	p.D234D	PRICKLE1_uc001rnl.3_Silent_p.D234D|PRICKLE1_uc010skw.2_Silent_p.D234D|PRICKLE1_uc001rnm.3_Silent_p.D234D	NM_001144881	NP_694571	Q96MT3	PRIC1_HUMAN	Homo sapiens prickle homolog 1 (Drosophila) (PRICKLE1), transcript variant 2, mRNA.	234	LIM zinc-binding 2.				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus	cytosol|nuclear membrane	zinc ion binding	p.K233N(1)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		AGGGGCGGCCGTCCTTCATGA	0.542000														41			5		0	0	1	0	0
MAB21L3	126868	broad.mit.edu	37	1	116666974	116666974	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:116666974C>T	uc001egc.1	+	3	742	c.477C>T	c.(475-477)ctC>ctT	p.L159L		NM_152367	NP_689580	Q8N8X9	MB213_HUMAN	Homo sapiens mab-21-like 3 (C. elegans) (MAB21L3), mRNA.	159										breast(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|urinary_tract(1)	19						CCTGTCACCTCTCAGGTGAGC	0.502000														30			19		0	0	1	0	0
CHD2	1106	broad.mit.edu	37	15	93467605	93467605	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:93467605T>C	uc002bsp.3	+	2	692	c.117T>C	c.(115-117)agT>agC	p.S39S	CHD2_uc002bsm.2_Silent_p.S39S|CHD2_uc002bsn.3_Silent_p.S39S|CHD2_uc002bso.1_Silent_p.S39S|CHD2_uc010urb.2_Silent_p.S52S	NM_001271	NP_001262	O14647	CHD2_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 2 (CHD2), transcript variant 1, mRNA.	39	Ser-rich.				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			AGTCGGAAAGTGAGCAGGGAA	0.468000														85			12		0	0	1	0	0
GLIS1	148979	broad.mit.edu	37	1	54060032	54060032	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:54060032G>T	uc001cvr.1	-	2	1111	c.544C>A	c.(544-546)Ctg>Atg	p.L182M		NM_147193	NP_671726	Q8NBF1	GLIS1_HUMAN	Homo sapiens GLIS family zinc finger 1 (GLIS1), mRNA.	182					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						CCCAGCCCCAGGCCTCCAAGG	0.697000														6			4		0.00909568	0.00940365	1	1	0
RETSAT	54884	broad.mit.edu	37	2	85573180	85573180	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:85573180G>T	uc002spd.3	-	5	1226	c.1035C>A	c.(1033-1035)atC>atA	p.I345I	RETSAT_uc010fge.3_Non-coding_Transcript|RETSAT_uc010ysm.2_Silent_p.I284I	NM_017750	NP_060220	Q6NUM9	RETST_HUMAN	Homo sapiens retinol saturase (all-trans-retinol 13,14-reductase) (RETSAT), mRNA.	345					retinol metabolic process	endoplasmic reticulum membrane|nuclear outer membrane	all-trans-retinol 13,14-reductase activity|electron carrier activity			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30					Vitamin A(DB00162)	TGGGGCAATAGATGTTCACCA	0.582000														68			50		3.07002e-29	4.04574e-29	1	1	0
KATNAL2	83473	broad.mit.edu	37	18	44589659	44589659	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:44589659G>A	uc002lco.3	+	6	631	c.437G>A	c.(436-438)cGa>cAa	p.R146Q	KATNAL2_uc010dnq.1_Intron	NM_031303	NP_112593	Q8IYT4	KATL2_HUMAN	Homo sapiens katanin p60 subunit A-like 2 (KATNAL2), mRNA.	218						cytoplasm|microtubule	ATP binding|microtubule-severing ATPase activity			central_nervous_system(2)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	27						CATCAGGAACGACTGCTGAAA	0.458000														29			14		0	0	1	0	0
NBN	4683	broad.mit.edu	37	8	90960053	90960053	+	Splice_Site	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:90960053G>A	uc003yej.1	-	12	2024	c.1914_splice	c.e12+1	p.S638_splice	NBN_uc011lgb.1_Splice_Site_p.S638_splice|NBN_uc003yei.1_Splice_Site_p.S556_splice	NM_002485	NP_002476	O60934	NBN_HUMAN	Homo sapiens nibrin (NBN), mRNA.	638					DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|cell cycle arrest|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance	Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm	protein N-terminus binding|transcription factor binding			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(11;0.0344)			GTTTCTCACAGATATTTCTTT	0.303000								Homologous recombination						9			6		0	0	1	0	0
INVS	27130	broad.mit.edu	37	9	103054731	103054731	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:103054731G>A	uc004bap.1	+	13	2404	c.2192G>A	c.(2191-2193)gGc>gAc	p.G731D	INVS_uc011lve.1_Missense_Mutation_p.G635D|INVS_uc004bao.1_Intron|INVS_uc004baq.1_Intron|INVS_uc004bar.1_Missense_Mutation_p.G635D|INVS_uc010mtb.1_Missense_Mutation_p.G405D	NM_014425	NP_055240	Q9Y283	INVS_HUMAN	Homo sapiens inversin (INVS), transcript variant 1, mRNA.	731					Wnt receptor signaling pathway|negative regulation of canonical Wnt receptor signaling pathway	cytoplasm|membrane|microtubule|nucleus|spindle	calmodulin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Acute lymphoblastic leukemia(62;0.056)				GAGACAGCTGGCGATGAGCGG	0.577000														36			8		0	0	1	0	0
FAT2	2196	broad.mit.edu	37	5	150946498	150946498	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:150946498T>C	uc003lue.4	-	0	2008	c.1995A>G	c.(1993-1995)gaA>gaG	p.E665E	FAT2_uc010jhx.1_Silent_p.E665E	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	665	Cadherin 5.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTACAGGAACTTCAAAATGAG	0.423000														55			30		0	0	1	0	0
FAM13C	220965	broad.mit.edu	37	10	61029813	61029813	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:61029813G>T	uc010qif.1	-	6	781	c.715C>A	c.(715-717)Ctc>Atc	p.L239I	FAM13C_uc010qid.2_Missense_Mutation_p.L134I|FAM13C_uc001jkn.3_Missense_Mutation_p.L217I|FAM13C_uc001jko.3_Missense_Mutation_p.L217I|FAM13C_uc010qie.2_Missense_Mutation_p.L134I|FAM13C_uc001jkp.3_Missense_Mutation_p.L134I	NM_198215	NP_937858	Q8NE31	FA13C_HUMAN	Homo sapiens family with sequence similarity 13, member C (FAM13C), transcript variant 1, mRNA.	217								p.S238L(1)		NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						ACAGAGTGGAGGTCTTCTGGT	0.527000														36			5		0.00116845	0.00123466	1	1	0
RIPK1	8737	broad.mit.edu	37	6	3111146	3111146	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:3111146G>A	uc010jni.3	+	9	1918	c.1686G>A	c.(1684-1686)acG>acA	p.T562T	RIPK1_uc003muv.4_Silent_p.T399T|RIPK1_uc003mux.3_Silent_p.T562T|RIPK1_uc011dhs.2_Silent_p.T516T	NM_003804	NP_003795	Q13546	RIPK1_HUMAN	Homo sapiens receptor (TNFRSF)-interacting serine-threonine kinase 1 (RIPK1), mRNA.	562	Interaction with SQSTM1.				MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of JUN kinase activity|activation of caspase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of necroptosis by extracellular signals|innate immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of anti-apoptosis|positive regulation of interleukin-8 production|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|protein autophosphorylation|regulation of ATP:ADP antiporter activity|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|death-inducing signaling complex|endosome membrane|mitochondrion|receptor complex	ATP binding|death domain binding|death receptor binding|protein serine/threonine kinase activity	p.T562M(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23	Ovarian(93;0.0386)	all_hematologic(90;0.0895)				GCACAAATACGAACTTCAAAG	0.408000														62			37		0	0	1	0	0
MTCH1	23787	broad.mit.edu	37	6	36945015	36945015	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:36945015G>A	uc003one.4	-	5	661	c.661C>T	c.(661-663)Cgc>Tgc	p.R221C	MTCH1_uc003onc.1_Missense_Mutation_p.R221C|MTCH1_uc010jwo.1_Non-coding_Transcript|MTCH1_uc003ond.1_Missense_Mutation_p.R221C|MTCH1_uc011dtt.2_Missense_Mutation_p.R53C	NM_014341	NP_055156	Q9NZJ7	MTCH1_HUMAN	Homo sapiens mitochondrial carrier 1 (MTCH1), nuclear gene encoding mitochondrial protein, mRNA.	221					activation of caspase activity|neuronal ion channel clustering|positive regulation of apoptosis|regulation of signal transduction|transport	integral to membrane|mitochondrial inner membrane	protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	6						ACCATGCAGCGCATTGAGATG	0.562000											OREG0017393	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		75			7		0	0	1	0	0
PBRM1	55193	broad.mit.edu	37	3	52678781	52678781	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52678781A>C	uc003des.2	-	7	850	c.838T>G	c.(838-840)Ttt>Gtt	p.F280V	PBRM1_uc003dex.2_Non-coding_Transcript|PBRM1_uc003deq.2_Missense_Mutation_p.F280V|PBRM1_uc003der.2_Missense_Mutation_p.F280V|PBRM1_uc003det.2_Missense_Mutation_p.F280V|PBRM1_uc003deu.2_Missense_Mutation_p.F280V|PBRM1_uc003dev.2_Non-coding_Transcript|PBRM1_uc003dew.2_Missense_Mutation_p.F280V|PBRM1_uc010hmk.1_Missense_Mutation_p.F280V|PBRM1_uc003dey.2_Missense_Mutation_p.F280V|PBRM1_uc003dez.1_Missense_Mutation_p.F280V|PBRM1_uc003dfb.1_Missense_Mutation_p.F178V	NM_181042	NP_060635	Q86U86	PB1_HUMAN	Homo sapiens polybromo 1 (PBRM1), transcript variant 4, mRNA.	280					chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	DNA binding|chromatin binding|protein binding	p.I279fs*4(4)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TTCatataaaatattttttta	0.358000			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""									7			6		0	0	1	0	0
REPS1	85021	broad.mit.edu	37	6	139266781	139266781	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:139266781G>A	uc003qii.3	-	2	910	c.331C>T	c.(331-333)Cgc>Tgc	p.R111C	REPS1_uc003qig.4_Missense_Mutation_p.R111C|REPS1_uc011edr.2_Missense_Mutation_p.R111C|REPS1_uc003qij.3_Missense_Mutation_p.R111C|REPS1_uc003qik.3_5'UTR	NM_031922	NP_114128	Q96D71	REPS1_HUMAN	Homo sapiens RALBP1 associated Eps domain containing 1 (REPS1), transcript variant 1, mRNA.	111	EH 1.					coated pit|plasma membrane	SH3 domain binding|calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19				GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)		GCTGCATGGCGAGATTCCTGT	0.413000														70			39		0	0	1	0	0
UNC13B	10497	broad.mit.edu	37	9	35396885	35396885	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:35396885T>C	uc003zwr.3	+	26	3528	c.3236T>C	c.(3235-3237)gTa>gCa	p.V1079A	UNC13B_uc003zwq.3_Missense_Mutation_p.V1079A	NM_006377	NP_006368	O14795	UN13B_HUMAN	Homo sapiens unc-13 homolog B (C. elegans) (UNC13B), mRNA.	1079	MHD1.				excretion|induction of apoptosis|intracellular signal transduction	Golgi apparatus|cell junction|synapse	metal ion binding|receptor activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			AATGAGGATGTATCCCTGGAA	0.557000														112			91		0	0	1	0	0
KIF19	124602	broad.mit.edu	37	17	72345413	72345413	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:72345413C>T	uc002jkm.4	+	9	1276	c.1138C>T	c.(1138-1140)Cgc>Tgc	p.R380C	KIF19_uc002jkj.2_Missense_Mutation_p.R380C|KIF19_uc002jkk.2_Missense_Mutation_p.R338C|KIF19_uc002jkl.2_Missense_Mutation_p.R338C	NM_153209	NP_694941	Q2TAC6	KIF19_HUMAN	Homo sapiens kinesin family member 19 (KIF19), mRNA.	380					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						GCGACTCAAGCGCAAGATTGA	0.632000														20			10		0	0	1	0	0
RASGRF1	5923	broad.mit.edu	37	15	79324528	79324528	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:79324528G>A	uc002beq.3	-	6	1464	c.1089C>T	c.(1087-1089)taC>taT	p.Y363Y	RASGRF1_uc002bep.3_Silent_p.Y363Y|RASGRF1_uc010blm.1_Silent_p.Y285Y|RASGRF1_uc002ber.4_Silent_p.Y363Y	NM_002891	NP_002882	Q13972	RGRF1_HUMAN	Homo sapiens Ras protein-specific guanine nucleotide-releasing factor 1 (RASGRF1), transcript variant 1, mRNA.	363	DH.				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GCTTGGCCTCGTAGTGCTTCA	0.602000														16			8		0	0	1	0	0
SENP6	26054	broad.mit.edu	37	6	76385598	76385598	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:76385598G>T	uc003pid.4	+	12	2068	c.1449G>T	c.(1447-1449)gaG>gaT	p.E483D	SENP6_uc003pie.4_Missense_Mutation_p.E476D|SENP6_uc010kbf.3_Non-coding_Transcript|SENP6_uc003pic.2_Missense_Mutation_p.E476D|SENP6_uc003pif.1_Missense_Mutation_p.E374D	NM_015571	NP_056386	Q9GZR1	SENP6_HUMAN	Homo sapiens SUMO1/sentrin specific peptidase 6 (SENP6), transcript variant 1, mRNA.	483					proteolysis	cytoplasm|nucleus	cysteine-type peptidase activity			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				ATCCTGTAGAGATTATATTAA	0.343000														41			19		3.99206e-14	4.99145e-14	1	1	0
ST8SIA5	29906	broad.mit.edu	37	18	44260099	44260099	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:44260099C>T	uc010xcy.1	-	7	1713	c.1145G>A	c.(1144-1146)gGc>gAc	p.G382D	ST8SIA5_uc002lci.1_Missense_Mutation_p.G193D|ST8SIA5_uc002lcj.1_Missense_Mutation_p.G346D|ST8SIA5_uc010xcz.1_Missense_Mutation_p.G315D	NM_013305	NP_037437	O15466	SIA8E_HUMAN	Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5 (ST8SIA5), mRNA.	346					glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane				kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						GGCGTGGAAGCCGGGACGCGG	0.607000														61			40		0	0	1	0	0
PTPRU	10076	broad.mit.edu	37	1	29585240	29585240	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:29585240G>A	uc001bru.3	+	2	558	c.429G>A	c.(427-429)tgG>tgA	p.W143*	PTPRU_uc009vtq.3_Nonsense_Mutation_p.W143*|PTPRU_uc009vtr.3_Nonsense_Mutation_p.W143*|PTPRU_uc001brw.3_Nonsense_Mutation_p.W143*	NM_005704	NP_005695	Q92729	PTPRU_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, U (PTPRU), transcript variant 3, mRNA.	143	MAM.				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		GCCGTCAGTGGCACCAGGCTG	0.642000														35			30		0	0	1	0	0
SCAF11	9169	broad.mit.edu	37	12	46320202	46320202	+	Missense_Mutation	SNP	T	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:46320202T>A	uc001rox.3	-	10	3569	c.3282A>T	c.(3280-3282)gaA>gaT	p.E1094D	SCAF11_uc001row.3_Missense_Mutation_p.E779D|SCAF11_uc001roy.1_Missense_Mutation_p.E1168D	NM_004719	NP_004710	Q99590	SCAFB_HUMAN	Homo sapiens SR-related CTD-associated factor 11 (SCAF11), mRNA.	1094					spliceosome assembly	nucleus	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						GCCACCGATTTTCATTCTGAT	0.433000														66			7		0	0	1	0	0
CPT2	1376	broad.mit.edu	37	1	53679163	53679163	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:53679163G>A	uc001cvb.4	+	4	2388	c.1873G>A	c.(1873-1875)Gtc>Atc	p.V625I		NM_000098	NP_000089	P23786	CPT2_HUMAN	Homo sapiens carnitine palmitoyltransferase 2 (CPT2), nuclear gene encoding mitochondrial protein, mRNA.	625					carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	mitochondrial inner membrane	carnitine O-palmitoyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	15					L-Carnitine(DB00583)|Perhexiline(DB01074)	AGGCTGCAATGTCTCTTCCTA	0.517000														56			33		0	0	1	0	0
SUPT3H	8464	broad.mit.edu	37	6	44971423	44971423	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:44971423G>A	uc003oxp.3	-	5	637	c.471C>T	c.(469-471)gaC>gaT	p.D157D	SUPT3H_uc003oxn.1_Silent_p.D157D|SUPT3H_uc003oxo.3_Silent_p.D168D|SUPT3H_uc011dvv.2_Silent_p.D5D|SUPT3H_uc011dvw.2_Silent_p.D71D	NM_003599	NP_003590	O75486	SUPT3_HUMAN	Homo sapiens suppressor of Ty 3 homolog (S. cerevisiae) (SUPT3H), transcript variant 1, mRNA.	239					histone H3 acetylation|histone deubiquitination|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	STAGA complex|transcription factor TFTC complex	DNA binding|transcription coactivator activity	p.Q157*(1)		breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)	12						CATCAATTTCGTCATCTTCAA	0.378000														49			28		0	0	1	0	0
PLXNC1	10154	broad.mit.edu	37	12	94645258	94645258	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:94645258G>A	uc001tdc.3	+	14	3084	c.2835G>A	c.(2833-2835)tgG>tgA	p.W945*		NM_005761	NP_005752	O60486	PLXC1_HUMAN	Homo sapiens plexin C1 (PLXNC1), transcript variant 1, mRNA.	945					axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						CTTCCACATGGTATTTTCTGA	0.473000														23			16		0	0	1	0	0
KIF22	3835	broad.mit.edu	37	16	29814854	29814854	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:29814854C>A	uc002dts.3	+	9	1557	c.1534C>A	c.(1534-1536)Ctc>Atc	p.L512I	BOLA2_uc010bzb.1_Intron|KIF22_uc010vdv.1_Missense_Mutation_p.L444I|KIF22_uc010vdw.1_Missense_Mutation_p.L444I|KIF22_uc002frc.1_5'Flank|MAZ_uc010vdx.2_5'Flank	NM_007317	NP_015556	Q14807	KIF22_HUMAN	Homo sapiens kinesin family member 22 (KIF22), transcript variant 1, mRNA.	512				ENHCPTMLR -> RTIVPQCSG (in Ref. 2; BAA33063).	DNA repair|blood coagulation|microtubule-based movement|mitosis	cytosol|kinetochore|microtubule|nucleus	ATP binding|DNA binding|microtubule motor activity|protein binding			endometrium(1)|large_intestine(1)|lung(11)|skin(1)	14						TCCCACAATGCTCCGGCCCCT	0.532000														17			14		1.05317e-09	1.25904e-09	1	1	0
COL12A1	1303	broad.mit.edu	37	6	75797421	75797421	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:75797421C>T	uc021zbv.1	-	63	9088	c.9053G>A	c.(9052-9054)gGt>gAt	p.G3018D	COL12A1_uc021zbw.1_Missense_Mutation_p.G1854D|COL12A1_uc003phs.3_Missense_Mutation_p.G3018D|COL12A1_uc003pht.3_Missense_Mutation_p.G1854D	NM_004370	NP_004361	Q99715	COCA1_HUMAN	Homo sapiens collagen, type XII, alpha 1 (COL12A1), transcript variant long, mRNA.	3018	Triple-helical region (COL1) with 2 imperfections.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						ACCTCTTGAACCTGTGGACCC	0.532000														49			23		0	0	1	0	0
EEA1	8411	broad.mit.edu	37	12	93258692	93258692	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:93258692A>G	uc001tck.3	-	2	454	c.189T>C	c.(187-189)gtT>gtC	p.V63V		NM_003566	NP_003557	Q15075	EEA1_HUMAN	Homo sapiens early endosome antigen 1 (EEA1), mRNA.	63					early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion	cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction	1-phosphatidylinositol binding|GTP-dependent protein binding|calmodulin binding|protein homodimerization activity|zinc ion binding			endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						CAGCATCATGAACAGCTTCAT	0.373000														81			6		0	0	1	0	0
C17orf66	256957	broad.mit.edu	37	17	34190004	34190004	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:34190004C>A	uc002hke.1	-	7	900	c.751G>T	c.(751-753)Gac>Tac	p.D251Y	C17orf66_uc010wck.1_Non-coding_Transcript|C17orf66_uc010wcl.1_Missense_Mutation_p.D211Y|C17orf66_uc010wcm.1_Missense_Mutation_p.D217Y	NM_152781	NP_689994	A2RTY3	CQ066_HUMAN	Homo sapiens chromosome 17 open reading frame 66 (C17orf66), mRNA.	251							binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(6)|lung(11)|skin(2)|stomach(4)	38		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		ATCACCTTGTCTTTAGAGACA	0.483000														45			35		5.59293e-11	6.79972e-11	1	1	0
PTGER4	5734	broad.mit.edu	37	5	40681118	40681118	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:40681118C>T	uc003jlz.3	+	1	615	c.23C>T	c.(22-24)tCg>tTg	p.S8L		NM_000958	NP_000949	P35408	PE2R4_HUMAN	Homo sapiens prostaglandin E receptor 4 (subtype EP4) (PTGER4), mRNA.	8					G-protein signaling, coupled to cAMP nucleotide second messenger|immune response	integral to membrane|plasma membrane	prostaglandin E receptor activity			breast(1)|endometrium(3)|liver(1)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						GGGGTCAATTCGTCCGCCTCC	0.627000											OREG0016588	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		55			6		0	0	1	0	0
CDC42BPB	9578	broad.mit.edu	37	14	103418839	103418839	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:103418839G>A	uc001ymi.1	-	23	3400	c.3168C>T	c.(3166-3168)tgC>tgT	p.C1056C	CDC42BPB_uc001ymj.1_Silent_p.C158C	NM_006035	NP_006026	Q9Y5S2	MRCKB_HUMAN	Homo sapiens CDC42 binding protein kinase beta (DMPK-like) (CDC42BPB), mRNA.	1056					actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		ACTCACCCTCGCAGGCGTAGC	0.632000														10			7		0	0	1	0	0
IL18RAP	8807	broad.mit.edu	37	2	103068626	103068626	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:103068626G>A	uc002tbx.3	+	11	2269	c.1785G>A	c.(1783-1785)caG>caA	p.Q595Q	IL18RAP_uc010fiz.3_Silent_p.Q453Q	NM_003853	NP_003844	O95256	I18RA_HUMAN	Homo sapiens interleukin 18 receptor accessory protein (IL18RAP), mRNA.	595					cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						GGAGCTCCCAGCCTAAGGAAT	0.507000														65			30		0	0	1	0	0
MRPL39	54148	broad.mit.edu	37	21	26972178	26972178	+	Splice_Site	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:26972178A>G	uc002yln.3	-	5	535	c.521_splice	c.e5-1	p.V174_splice	MRPL39_uc002ylo.3_Splice_Site_p.V174_splice	NM_080794	NP_542984	Q9NYK5	RM39_HUMAN	Homo sapiens mitochondrial ribosomal protein L39 (MRPL39), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	174						mitochondrial ribosome	nucleotide binding			endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	10						ACCAGAAATTACTGTAAATCC	0.333000														40			19		0	0	1	0	0
DCUN1D1	54165	broad.mit.edu	37	3	182683487	182683487	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:182683487G>A	uc003fld.1	-	1	107	c.58C>T	c.(58-60)Caa>Taa	p.Q20*		NM_020640	NP_065691	Q96GG9	DCNL1_HUMAN	Homo sapiens DCN1, defective in cullin neddylation 1, domain containing 1 (S. cerevisiae) (DCUN1D1), mRNA.	20	UBA-like.					ubiquitin ligase complex	protein binding			endometrium(2)|large_intestine(4)|lung(8)|ovary(1)	15	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;2.54e-44)|Epithelial(37;4.71e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			TCACTAGATTGTGTGAAGATC	0.313000														56			35		0	0	1	0	0
SNX33	257364	broad.mit.edu	37	15	75949440	75949440	+	Missense_Mutation	SNP	C	T	T	rs138286330		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:75949440C>T	uc002bau.3	+	1	1705	c.1609C>T	c.(1609-1611)Cgc>Tgc	p.R537C	SNX33_uc002bav.3_Missense_Mutation_p.R150C	NM_153271	NP_695003	Q8WV41	SNX33_HUMAN	Homo sapiens sorting nexin 33 (SNX33), mRNA.	537	BAR.				cell communication		phosphatidylinositol binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	19						CTTCCACCAGCGCCGTGAGCT	0.632000														28			26		0	0	1	0	0
ANGPTL1	9068	broad.mit.edu	37	1	178822899	178822899	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:178822899C>T	uc001gma.3	-	3	1323	c.847G>A	c.(847-849)Gca>Aca	p.A283T	RALGPS2_uc001gly.1_Intron|RALGPS2_uc010pnb.2_Intron|RALGPS2_uc001glz.3_Intron|ANGPTL1_uc001gmb.3_Missense_Mutation_p.A283T|ANGPTL1_uc010pnc.1_Missense_Mutation_p.A205T	NM_004673	NP_004664	O95841	ANGL1_HUMAN	Homo sapiens angiopoietin-like 1 (ANGPTL1), mRNA.	283	Fibrinogen C-terminal.					extracellular space	receptor binding			breast(2)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	14						GCTTCTTTTGCTTGCTGACAG	0.343000														74			26		0	0	1	0	0
HIRIP3	8479	broad.mit.edu	37	16	30004867	30004867	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:30004867G>A	uc002dve.3	-	5	1911	c.1420C>T	c.(1420-1422)Cta>Tta	p.L474L	BOLA2_uc010bzb.1_Intron|INO80E_uc002dvg.1_5'Flank|INO80E_uc002dvh.1_5'Flank|HIRIP3_uc002dvf.3_Missense_Mutation_p.P161L	NM_003609	NP_003600	Q9BW71	HIRP3_HUMAN	Homo sapiens HIRA interacting protein 3 (HIRIP3), transcript variant 1, mRNA.	474					chromatin assembly or disassembly	nucleus	protein binding	p.L474L(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(9)	17						CACTTCCCTAGGGAAGGGGTA	0.632000														34			17		0	0	1	0	0
ESYT1	23344	broad.mit.edu	37	12	56536630	56536630	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56536630C>T	uc001sjr.3	+	26	3048	c.2930C>T	c.(2929-2931)gCt>gTt	p.A977V	ESYT1_uc001sjq.3_Missense_Mutation_p.A967V	NM_001184796	NP_001171725	Q9BSJ8	ESYT1_HUMAN	Homo sapiens extended synaptotagmin-like protein 1 (ESYT1), transcript variant 1, mRNA.	967	C2 5.					integral to membrane				breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						CCCCTTGAGGCTCCAGCCGGG	0.517000														43			20		0	0	1	0	0
ADIPOR2	79602	broad.mit.edu	37	12	1889674	1889674	+	Missense_Mutation	SNP	T	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:1889674T>A	uc001qjm.3	+	4	718	c.521T>A	c.(520-522)tTt>tAt	p.F174Y	ADIPOR2_uc001qjn.3_Missense_Mutation_p.F174Y	NM_024551	NP_078827	Q86V24	ADR2_HUMAN	Homo sapiens adiponectin receptor 2 (ADIPOR2), mRNA.	174					fatty acid oxidation|hormone-mediated signaling pathway	integral to membrane	hormone binding|receptor activity			endometrium(1)|large_intestine(3)|lung(7)|stomach(1)	12	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000382)			AATATCTCCTTTGTGGCCCCT	0.418000														185			13		0	0	1	0	0
WSCD2	9671	broad.mit.edu	37	12	108618605	108618605	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:108618605G>A	uc001tms.3	+	4	1516	c.772G>A	c.(772-774)Gtg>Atg	p.V258M	WSCD2_uc001tmt.3_Missense_Mutation_p.V258M|WSCD2_uc001tmu.3_Missense_Mutation_p.V6M	NM_014653	NP_055468	Q2TBF2	WSCD2_HUMAN	Homo sapiens WSC domain containing 2 (WSCD2), mRNA.	258	WSC 2.					integral to membrane				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						GAACATGTCTGTGGACAAATG	0.587000														63			6		0	0	1	0	0
CALR	811	broad.mit.edu	37	19	13051399	13051399	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:13051399G>A	uc002mvu.2	+	5	827	c.747G>A	c.(745-747)aaG>aaA	p.K249K		NM_004343	NP_004334	P27797	CALR_HUMAN	Homo sapiens calreticulin (CALR), mRNA.	249	4 X approximate repeats.|P-domain.				cell cycle arrest|cellular senescence|glucocorticoid receptor signaling pathway|negative regulation of neuron differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of steroid hormone receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of translation|peptide antigen assembly with MHC class I protein complex|positive regulation of DNA replication|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of phagocytosis|post-translational protein modification|protein N-linked glycosylation via asparagine|protein export from nucleus|protein maturation by protein folding|protein stabilization|regulation of apoptosis|sequestering of calcium ion	MHC class I peptide loading complex|cytosol|endoplasmic reticulum lumen|extracellular space|nucleus|perinuclear region of cytoplasm|polysome|proteinaceous extracellular matrix	DNA binding|androgen receptor binding|calcium ion binding|chaperone binding|complement component C1q binding|integrin binding|mRNA binding|protein binding involved in protein folding|sugar binding|ubiquitin protein ligase binding|unfolded protein binding|zinc ion binding			kidney(1)|large_intestine(3)|lung(5)|ovary(1)	10					Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031)	ATGCTAAGAAGCCCGAGGACT	0.572000														34			9		0	0	1	0	0
GNPDA1	10007	broad.mit.edu	37	5	141382753	141382753	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:141382753C>T	uc003lmf.4	-	4	1428	c.669G>A	c.(667-669)atG>atA	p.M223I	GNPDA1_uc003lmg.4_Missense_Mutation_p.M223I|GNPDA1_uc010jgh.3_Missense_Mutation_p.M223I|GNPDA1_uc003lmh.4_Missense_Mutation_p.M189I	NM_005471	NP_005462	P46926	GNPI1_HUMAN	Homo sapiens glucosamine-6-phosphate deaminase 1 (GNPDA1), mRNA.	223					N-acetylglucosamine metabolic process|generation of precursor metabolites and energy|glucosamine catabolic process|single fertilization	cytoplasm	glucosamine-6-phosphate deaminase activity|hydrolase activity			central_nervous_system(1)|lung(1)|skin(3)|stomach(1)	6		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACACGGTCCACATGTGGTTCA	0.512000														37			4		0	0	1	0	0
IPO5	3843	broad.mit.edu	37	13	98652797	98652797	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:98652797G>A	uc001vne.3	+	12	1240	c.1060G>A	c.(1060-1062)Gca>Aca	p.A354T	IPO5_uc001vnf.1_Missense_Mutation_p.A336T|IPO5_uc010tik.1_Missense_Mutation_p.A211T|IPO5_uc010til.1_Missense_Mutation_p.A276T|IPO5_uc001vng.1_5'Flank	NM_002271	NP_002262	O00410	IPO5_HUMAN	Homo sapiens importin 5 (IPO5), mRNA.	336	Ran-GTP binding (By similarity).				NLS-bearing substrate import into nucleus|interspecies interaction between organisms|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|Ran GTPase binding|protein transporter activity			breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						GTTTAGCAATGCAGTTGCAGG	0.368000														46			6		0	0	1	0	0
LRRC40	55631	broad.mit.edu	37	1	70614326	70614326	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:70614326C>T	uc001der.2	-	13	1685	c.1547G>A	c.(1546-1548)cGt>cAt	p.R516H		NM_017768	NP_060238	Q9H9A6	LRC40_HUMAN	Homo sapiens leucine rich repeat containing 40 (LRRC40), mRNA.	516								p.R516H(2)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(2)	27						TGTGAAGATACGATATAGAAC	0.338000														67			6		0	0	1	0	0
KIAA1984	84960	broad.mit.edu	37	9	139697115	139697115	+	Splice_Site	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:139697115G>T	uc004cjf.3	+	6	604	c.544_splice	c.e6-1	p.V182_splice		NM_001039374	NP_001034463	Q5T5S1	K1984_HUMAN	Homo sapiens KIAA1984 (KIAA1984), mRNA.	182										biliary_tract(1)|breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	13	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.33e-06)|Epithelial(140;0.000124)		ATTCAACACAGGTGCTGGCAG	0.537000														125			11		1.58986e-06	1.80238e-06	1	1	0
ENO1	2023	broad.mit.edu	37	1	8930530	8930530	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:8930530G>A	uc001apj.2	-	3	743	c.221C>T	c.(220-222)gCg>gTg	p.A74V	ENO1_uc001api.2_5'UTR|ENO1_uc009vml.2_Missense_Mutation_p.A74V	NM_001428	NP_001188412	P06733	ENOA_HUMAN	Homo sapiens enolase 1, (alpha) (ENO1), transcript variant 1, mRNA.	74					gluconeogenesis|glycolysis|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|response to virus	phosphopyruvate hydratase complex|plasma membrane|sarcomere	DNA binding|magnesium ion binding|phosphopyruvate hydratase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	10	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;2.54e-20)|all_lung(118;2.99e-06)|Lung NSC(185;6.25e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.42e-07)|COAD - Colon adenocarcinoma(227;2.78e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		CAGGGCAGGCGCAATAGTTTT	0.458000														23			12		0	0	1	0	0
APOE	348	broad.mit.edu	37	19	45411875	45411875	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:45411875C>T	uc002pab.3	+	3	405	c.322C>T	c.(322-324)Cgg>Tgg	p.R108W		NM_000041	NP_000032	P02649	APOE_HUMAN	Homo sapiens apolipoprotein E (APOE), mRNA.	108	8 X 22 AA approximate tandem repeats.				Cdc42 protein signal transduction|G-protein coupled receptor protein signaling pathway|anti-apoptosis|cGMP-mediated signaling|cell death|cholesterol efflux|cholesterol homeostasis|chylomicron remnant clearance|cytoskeleton organization|high-density lipoprotein particle assembly|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|induction of apoptosis|intracellular transport|negative regulation of MAP kinase activity|negative regulation of blood vessel endothelial cell migration|negative regulation of cholesterol biosynthetic process|negative regulation of endothelial cell proliferation|negative regulation of platelet activation|nitric oxide mediated signal transduction|phospholipid efflux|positive regulation of cGMP biosynthetic process|positive regulation of cholesterol efflux|positive regulation of cholesterol esterification|positive regulation of low-density lipoprotein particle receptor catabolic process|positive regulation of membrane protein ectodomain proteolysis|positive regulation of nitric-oxide synthase activity|receptor-mediated endocytosis|regulation of axon extension|regulation of neuronal synaptic plasticity|response to reactive oxygen species|reverse cholesterol transport|synaptic transmission, cholinergic|triglyceride metabolic process|very-low-density lipoprotein particle clearance|very-low-density lipoprotein particle remodeling	chylomicron|dendrite|high-density lipoprotein particle|intermediate-density lipoprotein particle|low-density lipoprotein particle|neuronal cell body|very-low-density lipoprotein particle	antioxidant activity|beta-amyloid binding|heparin binding|low-density lipoprotein particle receptor binding|metal chelating activity|phosphatidylcholine-sterol O-acyltransferase activator activity|phospholipid binding|protein heterodimerization activity|protein homodimerization activity|tau protein binding|very-low-density lipoprotein particle receptor binding			large_intestine(1)|lung(2)|prostate(1)	4	Lung NSC(12;0.0018)|all_lung(12;0.00481)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|Epithelial(262;0.174)	Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	GGAGGAGACGCGGGCACGGCT	0.687000														6			5		0	0	1	0	0
MYO7B	4648	broad.mit.edu	37	2	128367143	128367143	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:128367143G>T	uc002top.3	+	22	2930	c.2877G>T	c.(2875-2877)gaG>gaT	p.E959D		NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN	Homo sapiens myosin VIIB (MYO7B), mRNA.	959						apical plasma membrane|myosin complex	ATP binding|actin binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		CCATGGCGGAGGAGCCTGAGG	0.582000														10			8		0.0381472	0.0388409	1	1	0
ANKLE2	23141	broad.mit.edu	37	12	133324479	133324479	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:133324479G>A	uc001ukx.2	-	4	1236	c.1169C>T	c.(1168-1170)gCc>gTc	p.A390V	ANKLE2_uc001uky.3_Missense_Mutation_p.A328V	NM_015114	NP_055929	Q86XL3	ANKL2_HUMAN	Homo sapiens ankyrin repeat and LEM domain containing 2 (ANKLE2), mRNA.	390						cytoplasm|integral to membrane|nuclear envelope				NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		CTGCAGCATGGCCTCGTCGTC	0.542000														35			22		0	0	1	0	0
NDUFA10	4705	broad.mit.edu	37	2	240951043	240951043	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:240951043G>T	uc010fzc.2	-	6	931	c.830C>A	c.(829-831)cCt>cAt	p.P277H	NDUFA10_uc002vyn.3_Missense_Mutation_p.P247H	NM_004544	NP_004535	O95299	NDUAA_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa (NDUFA10), nuclear gene encoding mitochondrial protein, mRNA.	247					mitochondrial electron transport, NADH to ubiquinone|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transport	mitochondrial matrix|mitochondrial respiratory chain complex I	ATP binding|NADH dehydrogenase (ubiquinone) activity|phosphotransferase activity, alcohol group as acceptor			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)	16		all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202)	NADH(DB00157)	CCTCATCTCAGGGAGAAAGGT	0.443000														47			21		7.41877e-09	8.75093e-09	1	1	0
DNAH9	1770	broad.mit.edu	37	17	11593175	11593175	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:11593175C>A	uc002gne.3	+	19	4104	c.4036C>A	c.(4036-4038)Ctg>Atg	p.L1346M	DNAH9_uc010coo.3_Missense_Mutation_p.L640M	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	1346	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TATCCGAAACCTGGACAAGGA	0.572000														6			4		0.150653	0.152248	1	1	0
CCT6A	908	broad.mit.edu	37	7	56127304	56127304	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:56127304C>T	uc003trl.1	+	8	1200	c.1036C>T	c.(1036-1038)Cat>Tat	p.H346Y	PSPH_uc003trj.3_Intron|CCT6A_uc003trm.1_Missense_Mutation_p.H301Y|CCT6A_uc011kcu.1_Missense_Mutation_p.H315Y|SNORA15_uc003trn.1_5'Flank	NM_001762	NP_001753	P40227	TCPZ_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 6A (zeta 1) (CCT6A), transcript variant 1, mRNA.	346					'de novo' posttranslational protein folding	cytosol	ATP binding|unfolded protein binding			breast(1)|cervix(2)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	15	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CTGCTTGGGACATGCAGGACT	0.383000														60			26		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140811962	140811962	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140811962G>A	uc003lkt.2	+	0	1805	c.1636G>A	c.(1636-1638)Gtg>Atg	p.V546M	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lkq.2_Intron|PCDHGC5_uc003lkp.2_Intron|PCDHGC5_uc011dba.2_Missense_Mutation_p.V546M	NM_003735	NP_003726	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 12 (PCDHGA12), transcript variant 1, mRNA.	548	Cadherin 5.				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)			CAGCAGCAACGTGTCGTTGAG	0.627000														143			9		0	0	1	0	0
ATG9B	285973	broad.mit.edu	37	7	150714129	150714129	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:150714129C>T	uc011kvc.2	-	8	2359	c.2283G>A	c.(2281-2283)tcG>tcA	p.S761S	ATG9B_uc003wig.4_Non-coding_Transcript	NM_173681	NP_775952	Q674R7	ATG9B_HUMAN	Homo sapiens ATG9 autophagy related 9 homolog B (S. cerevisiae) (ATG9B), mRNA.	761					autophagic vacuole assembly	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane				cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1)	14	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCACCAGGGGCGAGGTGCAGT	0.652000														11			6		0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51748014	51748014	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:51748014A>G	uc003pah.1	-	45	7503	c.7227T>C	c.(7225-7227)agT>agC	p.S2409S	PKHD1_uc010jzn.1_Silent_p.S392S|PKHD1_uc003pai.3_Silent_p.S2409S	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	2409					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GAAGATTGCTACTTCTAAAAA	0.343000														59			6		0	0	1	0	0
PHEX	5251	broad.mit.edu	37	X	22115094	22115094	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:22115094C>T	uc004dah.3	+	7	1074	c.871C>T	c.(871-873)Cga>Tga	p.R291*	PHEX_uc011mjr.2_Nonsense_Mutation_p.R291*|PHEX_uc011mjs.2_Nonsense_Mutation_p.R194*	NM_000444	NP_000435	P78562	PHEX_HUMAN	Homo sapiens phosphate regulating endopeptidase homolog, X-linked (PHEX), mRNA.	291					biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development	integral to plasma membrane	aminopeptidase activity|metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						ACATGAAAACCGAACCAGCGA	0.358000														45			19		0	0	1	0	0
KRT84	3890	broad.mit.edu	37	12	52775247	52775247	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:52775247G>A	uc001sah.1	-	4	1023	c.975C>T	c.(973-975)agC>agT	p.S325S		NM_033045	NP_149034	Q9NSB2	KRT84_HUMAN	Homo sapiens keratin 84 (KRT84), mRNA.	325	Linker 12.|Rod.					keratin filament	structural constituent of epidermis			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TCAGGTCACGGCTGTTGTCCA	0.557000														106			70		0	0	1	0	0
PPHLN1	51535	broad.mit.edu	37	12	42729720	42729720	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:42729720C>T	uc001rng.1	+	1	121	c.16C>T	c.(16-18)Cga>Tga	p.R6*	PPHLN1_uc001rna.3_Nonsense_Mutation_p.R13*|PPHLN1_uc001rnb.3_Nonsense_Mutation_p.R13*|PPHLN1_uc001rnc.3_Nonsense_Mutation_p.R6*|PPHLN1_uc001rnd.3_Nonsense_Mutation_p.R13*|PPHLN1_uc001rnf.3_Nonsense_Mutation_p.R6*|PPHLN1_uc010skq.2_Nonsense_Mutation_p.R6*|PPHLN1_uc010skr.1_Nonsense_Mutation_p.R6*|PPHLN1_uc010sks.1_Nonsense_Mutation_p.R6*|PPHLN1_uc010skt.1_Intron|PPHLN1_uc001rni.1_Nonsense_Mutation_p.R6*|PPHLN1_uc001rnh.1_Non-coding_Transcript|PPHLN1_uc010sku.1_Nonsense_Mutation_p.R13*	NM_016488	NP_057572	Q8NEY8	PPHLN_HUMAN	Homo sapiens periphilin 1 (PPHLN1), transcript variant 1, mRNA.	6					keratinization	cytoplasm|nucleus		p.G5G(1)		breast(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	16	all_cancers(12;0.00049)|Breast(8;0.165)	Lung NSC(34;0.123)		GBM - Glioblastoma multiforme(48;0.0875)		GTCTGAGGGACGATATGAATA	0.378000														40			36		0	0	1	0	0
CCDC106	29903	broad.mit.edu	37	19	56160635	56160635	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:56160635G>T	uc002qlr.3	+	2	831	c.96G>T	c.(94-96)caG>caT	p.Q32H	CCDC106_uc021vcc.1_Missense_Mutation_p.Q32H|CCDC106_uc021vcd.1_Missense_Mutation_p.Q32H|CCDC106_uc002qls.3_Missense_Mutation_p.Q32H	NM_013301	NP_037433	Q9BWC9	CC106_HUMAN	Homo sapiens coiled-coil domain containing 106 (CCDC106), mRNA.	32						nucleus				endometrium(2)|large_intestine(3)|lung(5)|skin(1)	11		Colorectal(82;0.00403)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		TAGACCCACAGATCTTTTACA	0.582000														100			11		1.58986e-06	1.80238e-06	1	1	0
UGGT2	55757	broad.mit.edu	37	13	96624864	96624864	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:96624864C>T	uc001vmt.3	-	10	1324	c.1154G>A	c.(1153-1155)cGt>cAt	p.R385H		NM_020121	NP_064506	Q9NYU1	UGGG2_HUMAN	Homo sapiens UDP-glucose glycoprotein glucosyltransferase 2 (UGGT2), mRNA.	385					post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding	ER-Golgi intermediate compartment|endoplasmic reticulum lumen	UDP-glucose:glycoprotein glucosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						CATATCAACACGAAGGCCATT	0.313000														50			5		0	0	1	0	0
FBN3	84467	broad.mit.edu	37	19	8211083	8211083	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:8211083C>A	uc002mjf.3	-	2	294	c.277G>T	c.(277-279)Ggc>Tgc	p.G93C		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	93						proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GAGCAGAAGCCTTCACCGCAG	0.687000														3			5		0.00116845	0.00123466	1	1	0
BTNL3	10917	broad.mit.edu	37	5	180419996	180419996	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:180419996T>C	uc003mmr.3	+	1	417	c.233T>C	c.(232-234)aTg>aCg	p.M78T		NM_197975	NP_932079	Q6UXE8	BTNL3_HUMAN	Homo sapiens butyrophilin-like 3 (BTNL3), mRNA.	78					lipid metabolic process	integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1)	25	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)			TCTAAGCAGATGCCACAGTAT	0.527000														17			11		0	0	1	0	0
PHIP	55023	broad.mit.edu	37	6	79700587	79700587	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:79700587T>C	uc011dyp.2	-	19	2540	c.2314A>G	c.(2314-2316)Aag>Gag	p.K772E	PHIP_uc003pir.3_Missense_Mutation_p.K773E	NM_017934	NP_060404	Q8WWQ0	PHIP_HUMAN	Homo sapiens pleckstrin homology domain interacting protein (PHIP), mRNA.	773					insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		ATATGTACCTTTGAGACAGTG	0.303000														41			4		0	0	1	0	0
CUL9	23113	broad.mit.edu	37	6	43190124	43190124	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:43190124C>T	uc003ouk.3	+	35	6992	c.6917C>T	c.(6916-6918)gCg>gTg	p.A2306V	CUL9_uc003oul.3_Missense_Mutation_p.A2278V|CUL9_uc010jyk.3_Missense_Mutation_p.A1458V|CUL9_uc003oun.3_Missense_Mutation_p.A101V	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN	Homo sapiens cullin 9 (CUL9), mRNA.	2306					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						CATCACCAGGCGCGGGTGAGT	0.602000														31			18		0	0	1	0	0
CAPN10	11132	broad.mit.edu	37	2	241533978	241533978	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:241533978G>T	uc002vzk.2	+	5	1045	c.849G>T	c.(847-849)caG>caT	p.Q283H	CAPN10_uc010zoh.2_Missense_Mutation_p.Q283H|CAPN10_uc002vzp.2_Non-coding_Transcript|CAPN10_uc002vzm.2_Intron|CAPN10_uc002vzl.2_Missense_Mutation_p.Q283H|CAPN10_uc002vzn.2_Missense_Mutation_p.Q155H|CAPN10_uc002vzo.2_Non-coding_Transcript|CAPN10_uc010fzg.2_Non-coding_Transcript|CAPN10_uc002vzq.2_Intron	NM_023083	NP_075571	Q9HC96	CAN10_HUMAN	Homo sapiens calpain 10 (CAPN10), transcript variant 1, mRNA.	283	Calpain catalytic.				actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis	cytosol|plasma membrane	SNARE binding|calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1)	27		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)		GGTGGAGCCAGGTAGATGCAG	0.607000														142			65		5.00936e-31	6.61514e-31	1	1	0
AADACL2	344752	broad.mit.edu	37	3	151475308	151475308	+	Missense_Mutation	SNP	A	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:151475308A>T	uc003ezc.3	+	4	1252	c.1132A>T	c.(1132-1134)Act>Tct	p.T378S	MIR548H2_uc021xgb.1_Intron|AADACL2_uc010hvn.3_Missense_Mutation_p.T165S	NM_207365	NP_997248	Q6P093	ADCL2_HUMAN	Homo sapiens arylacetamide deacetylase-like 2 (AADACL2), mRNA.	378						extracellular region|integral to membrane	carboxylesterase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2)	24			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			ATCATTCATGACTTCACCATT	0.338000														68			43		0	0	1	0	0
OR7D2	162998	broad.mit.edu	37	19	9297234	9297234	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9297234C>T	uc002mkz.1	+	0	965	c.777C>T	c.(775-777)caC>caT	p.H259H		NM_175883	NP_787079	Q96RA2	OR7D2_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily D, member 2 (OR7D2), mRNA.	259					regulation of transcription, DNA-dependent|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	20						TTGGGGTCCACTTCACTTCTG	0.512000														48			34		0	0	1	0	0
SCAMP2	10066	broad.mit.edu	37	15	75140965	75140965	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:75140965A>G	uc002azb.1	-	6	784	c.710T>C	c.(709-711)gTt>gCt	p.V237A	SCAMP2_uc002aza.1_Missense_Mutation_p.V87A	NM_005697	NP_005688	O15127	SCAM2_HUMAN	Homo sapiens secretory carrier membrane protein 2 (SCAMP2), mRNA.	237					post-Golgi vesicle-mediated transport|protein transport	integral to membrane|nucleus|recycling endosome membrane|trans-Golgi network membrane	protein binding			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	9						AGGGATGCCAACCAACTGGAT	0.483000														30			3		0	0	1	0	0
STEAP1B	256227	broad.mit.edu	37	7	22533445	22533445	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:22533445G>A	uc010kum.2	-	2	295	c.95C>T	c.(94-96)aCg>aTg	p.T32M	STEAP1B_uc003svh.3_Intron	NM_001164460	NP_001157932	Q6NZ63	STEAL_HUMAN	Homo sapiens STEAP family member 1B (STEAP1B), transcript variant 1, mRNA.	28						integral to membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity			endometrium(1)|kidney(1)|lung(2)	4						GGTCTCTCCCGTGTCCTCATG	0.398000														31			30		0	0	1	0	0
BPIFB4	149954	broad.mit.edu	37	20	31690816	31690816	+	Missense_Mutation	SNP	T	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:31690816T>A	uc010zue.2	+	12	1691	c.1676T>A	c.(1675-1677)tTt>tAt	p.F559Y		NM_182519	NP_872325	P59827	LPLC4_HUMAN	Homo sapiens BPI fold containing family B, member 4 (BPIFB4), mRNA.	559						cytoplasm|extracellular region	lipid binding										GTGGGCAACTTTGATGTAAGT	0.517000														103			10		0	0	1	0	0
CELA2A	63036	broad.mit.edu	37	1	15789268	15789268	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:15789268C>A	uc001awk.3	+	3	294	c.268C>A	c.(268-270)Ctc>Atc	p.L90I		NM_033440	NP_254275	P08217	CEL2A_HUMAN	Homo sapiens chymotrypsin-like elastase family, member 2A (CELA2A), mRNA.	90	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(2)|prostate(1)	16						CCGGCACAACCTCTACGTTGC	0.592000														74			8		0.000157383	0.000170012	1	1	0
AZU1	566	broad.mit.edu	37	19	831742	831742	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:831742C>T	uc002lpz.1	+	4	637	c.621C>T	c.(619-621)tgC>tgT	p.C207C		NM_001700	NP_001691	P20160	CAP7_HUMAN	Homo sapiens azurocidin 1 (AZU1), mRNA.	207	Peptidase S1.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cellular extravasation|defense response to Gram-negative bacterium|glial cell migration|induction of positive chemotaxis|inflammatory response|macrophage chemotaxis|microglial cell activation|monocyte activation|positive regulation of MHC class II biosynthetic process|positive regulation of cell adhesion|positive regulation of fractalkine biosynthetic process|positive regulation of interleukin-1 beta biosynthetic process|positive regulation of phagocytosis|positive regulation of tumor necrosis factor biosynthetic process|proteolysis|regulation of vascular permeability	azurophil granule|extracellular region	heparin binding|serine-type endopeptidase activity|toxin binding			NS(1)|endometrium(1)|kidney(1)|lung(4)|pancreas(1)|upper_aerodigestive_tract(2)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCTCGTCTGCGAGGGCCTGG	0.706000														5			9		0	0	1	0	0
ZNF423	23090	broad.mit.edu	37	16	49559304	49559304	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:49559304C>T	uc002efs.3	-	6	3977	c.3679G>A	c.(3679-3681)Ggc>Agc	p.G1227S	ZNF423_uc010vgn.2_Missense_Mutation_p.G1110S	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN	Homo sapiens zinc finger protein 423 (ZNF423), mRNA.	1227					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				TTGAAGGTGCCGCCCATGCCC	0.577000														25			11		0	0	1	0	0
SLC10A2	6555	broad.mit.edu	37	13	103718407	103718407	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:103718407G>A	uc001vpy.4	-	0	790	c.193C>T	c.(193-195)Ccg>Tcg	p.P65S		NM_000452	NP_000443	Q12908	NTCP2_HUMAN	Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 2 (SLC10A2), mRNA.	65					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					ATGCCCCACGGCCGCTTTATG	0.532000														56			34		0	0	1	0	0
PALLD	23022	broad.mit.edu	37	4	169819820	169819820	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:169819820G>A	uc011cjx.2	+	13	2638	c.2427G>A	c.(2425-2427)atG>atA	p.M809I	CBR4_uc011cjy.2_Intron|PALLD_uc003iru.3_Missense_Mutation_p.M792I|PALLD_uc003irv.3_Missense_Mutation_p.M410I|PALLD_uc003irw.3_Missense_Mutation_p.M305I|PALLD_uc003irx.3_Missense_Mutation_p.M18I	NM_001166108	NP_001159580	Q8WX93	PALLD_HUMAN	Homo sapiens palladin, cytoskeletal associated protein (PALLD), transcript variant 1, mRNA.	1016	Interaction with ARGBP2, SPIN90, SRC and PFN1.|Interaction with EPS8 (By similarity).|Pro-rich.				cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		TTGAGGGAATGCCAGTAACTT	0.428000									Pancreatic Cancer, Familial Clustering of					58			5		0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3248419	3248419	+	Missense_Mutation	SNP	C	T	T	rs142550750		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:3248419C>T	uc004crg.4	-	3	506	c.349G>A	c.(349-351)Gtg>Atg	p.V117M		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	117						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CCTGTGATCACTCTCAGCTTG	0.433000														11			7		0	0	1	0	0
ATP5L2	267020	broad.mit.edu	37	22	43036038	43036038	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:43036038A>G	uc003bda.1	-	0	570	c.243T>C	c.(241-243)acT>acC	p.T81T	CYB5R3_uc011aps.2_Intron|CYB5R3_uc021wqn.1_Intron|CYB5R3_uc003bcy.3_Intron|CYB5R3_uc003bcx.3_Intron|CYB5R3_uc003bcz.3_Intron	NM_001165877	NP_001159349	Q7Z4Y8	AT5L2_HUMAN	Homo sapiens ATP synthase, H+ transporting, mitochondrial Fo complex, subunit G2 (ATP5L2), nuclear gene encoding mitochondrial protein, mRNA.	81					ATP synthesis coupled proton transport	mitochondrial proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transmembrane transporter activity			endometrium(1)|kidney(1)	2						TCGACACCTCAGTGGCCACCA	0.438000														31			5		0	0	1	0	0
SLC13A2	9058	broad.mit.edu	37	17	26820593	26820593	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:26820593C>T	uc010wan.2	+	6	1097	c.1030C>T	c.(1030-1032)Cgg>Tgg	p.R344W	SLC13A2_uc010wal.1_Missense_Mutation_p.R252W|SLC13A2_uc010wam.2_Missense_Mutation_p.R251W|SLC13A2_uc002hbh.3_Missense_Mutation_p.R295W|SLC13A2_uc010wao.2_Missense_Mutation_p.R252W|SLC13A2_uc002hbi.3_Missense_Mutation_p.R224W	NM_001145975	NP_001139447	Q13183	S13A2_HUMAN	Homo sapiens solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2 (SLC13A2), transcript variant 1, mRNA.	295						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)	CTGCAGCTTCCGGAAGAACTT	0.622000														9			5		0	0	1	0	0
SRRM2	23524	broad.mit.edu	37	16	2814401	2814401	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:2814401C>T	uc002crk.3	+	10	4421	c.3872C>T	c.(3871-3873)gCt>gTt	p.A1291V	SRRM2_uc002crj.1_Missense_Mutation_p.A1195V|SRRM2_uc002crl.1_Missense_Mutation_p.A1291V|SRRM2_uc010bsu.1_Missense_Mutation_p.A1195V	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	Homo sapiens serine/arginine repetitive matrix 2 (SRRM2), mRNA.	1291	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|RNA binding|protein N-terminus binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CAGTCACAGGCTTCTTTGGAA	0.453000														142			68		0	0	1	0	0
SPNS1	83985	broad.mit.edu	37	16	28990543	28990543	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:28990543C>T	uc010vdi.1	+	4	652	c.512C>T	c.(511-513)gCg>gTg	p.A171V	NPIPL1_uc010vct.2_Intron|SPNS1_uc002dry.2_Missense_Mutation_p.A171V|SPNS1_uc002drx.2_Missense_Mutation_p.A98V|SPNS1_uc002dsa.2_Missense_Mutation_p.A171V|SPNS1_uc002drz.2_Missense_Mutation_p.A171V|SPNS1_uc010byp.2_Missense_Mutation_p.A149V	NM_001142448	NP_001135922	Q9H2V7	SPNS1_HUMAN	Homo sapiens spinster homolog 1 (Drosophila) (SPNS1), transcript variant 2, mRNA.	171					lipid transport|transmembrane transport	integral to membrane|mitochondrial inner membrane	protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)|urinary_tract(1)	21						TCCACCATCGCGCCCACTCTC	0.657000														48			21		0	0	1	0	0
DBNL	28988	broad.mit.edu	37	7	44096431	44096431	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:44096431G>A	uc003tjp.4	+	4	501	c.403G>A	c.(403-405)Gct>Act	p.A135T	DBNL_uc003tjo.4_Missense_Mutation_p.A135T|DBNL_uc003tjq.4_Missense_Mutation_p.A135T|DBNL_uc011kbm.2_Missense_Mutation_p.A110T|DBNL_uc011kbo.2_Missense_Mutation_p.A35T|DBNL_uc011kbp.2_Intron|DBNL_uc011kbq.2_Missense_Mutation_p.A60T|DBNL_uc011kbn.2_Missense_Mutation_p.A32T|DBNL_uc011kbr.2_Missense_Mutation_p.A83T|DBNL_uc011kbs.2_Missense_Mutation_p.A32T	NM_001014436	NP_001014436	Q9UJU6	DBNL_HUMAN	Homo sapiens drebrin-like (DBNL), transcript variant 2, mRNA.	135					Rac protein signal transduction|activation of JUN kinase activity|cellular component disassembly involved in apoptosis|endocytosis	cell cortex|cytoskeleton|cytosol|lamellipodium	actin binding|enzyme activator activity|identical protein binding	p.K134M(1)		breast(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|stomach(1)	12						GGTGGCCAAGGCTTCAGGTGC	0.622000														62			30		0	0	1	0	0
RRP7B	91695	broad.mit.edu	37	22	42976349	42976349	+	RNA	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:42976349G>T	uc003bcs.3	-	1		c.100C>A			RRP7B_uc003bct.3_Non-coding_Transcript					Homo sapiens ribosomal RNA processing 7 homolog B (S. cerevisiae) (RRP7B), non-coding RNA.																		GCTTTTCAGAGAACTTGATTG	0.517000														12			4		1.024e-07	1.18895e-07	1	1	0
MSL3P1	151507	broad.mit.edu	37	2	234775682	234775682	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:234775682T>G	uc010znf.2	-	1	398	c.160A>C	c.(160-162)Agt>Cgt	p.S54R						Homo sapiens male-specific lethal 3 homolog (Drosophila) pseudogene 1 (MSL3P1), non-coding RNA.																		AAGGCTGCACTGATAGCAAAA	0.443000														42			4		0	0	1	0	0
MPRIP	23164	broad.mit.edu	37	17	17079821	17079821	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:17079821C>A	uc002gqy.2	+	5	3884	c.3478C>A	c.(3478-3480)Ctg>Atg	p.L1160M	MPRIP_uc002gqu.2_Missense_Mutation_p.L931M|MPRIP_uc002gqv.2_Missense_Mutation_p.L931M|MPRIP_uc002gqw.2_Missense_Mutation_p.L686M|MPRIP_uc002gqx.2_Missense_Mutation_p.L1160M|MPRIP_uc010cpl.2_Missense_Mutation_p.L117M|MPRIP_uc010cpm.2_Missense_Mutation_p.L117M			Q6WCQ1	MPRIP_HUMAN	Homo sapiens myosin phosphatase Rho interacting protein (MPRIP), transcript variant 1, mRNA.	931						cytoplasm|cytoskeleton	actin binding			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						GCAGACGGCACTGCGGGTAAG	0.562000														57			6		0.0215528	0.0220531	1	1	0
UBA2	10054	broad.mit.edu	37	19	34935965	34935965	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:34935965G>A	uc002nvk.3	+	7	780	c.710G>A	c.(709-711)cGt>cAt	p.R237H	UBA2_uc010xrx.1_Missense_Mutation_p.R110H|UBA2_uc002nvl.3_Missense_Mutation_p.R141H	NM_005499	NP_005490	Q9UBT2	SAE2_HUMAN	Homo sapiens ubiquitin-like modifier activating enzyme 2 (UBA2), mRNA.	237					protein sumoylation	nucleus	ATP binding|SUMO activating enzyme activity|enzyme activator activity|ligase activity|metal ion binding|protein heterodimerization activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	20	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			GACATTAAACGTATTTCTACT	0.328000														75			8		0	0	1	0	0
CLMN	79789	broad.mit.edu	37	14	95669561	95669561	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:95669561C>T	uc001yef.2	-	8	2241	c.2125G>A	c.(2125-2127)Gat>Aat	p.D709N		NM_024734	NP_079010	Q96JQ2	CLMN_HUMAN	Homo sapiens calmin (calponin-like, transmembrane) (CLMN), mRNA.	709						integral to membrane	actin binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		GGCTTGAAATCCAGGCCTTCT	0.567000														30			22		0	0	1	0	0
ZNF277	11179	broad.mit.edu	37	7	111958314	111958314	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:111958314A>G	uc003vge.2	+	4	672	c.543A>G	c.(541-543)gaA>gaG	p.E181E	ZNF277_uc003vgd.3_Silent_p.E181E|ZNF277_uc003vgf.2_Silent_p.E103E	NM_021994	NP_068834	Q9NRM2	ZN277_HUMAN	Homo sapiens zinc finger protein 277 (ZNF277), mRNA.	181						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	15						GCAATGAAGAATTCCTTGGAA	0.328000														58			4		0	0	1	0	0
SDC3	9672	broad.mit.edu	37	1	31349520	31349520	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:31349520C>T	uc001bse.2	-	2	796	c.749G>A	c.(748-750)aGc>aAc	p.S250N	SDC3_uc001bsd.2_Missense_Mutation_p.S192N	NM_014654	NP_055469	O75056	SDC3_HUMAN	Homo sapiens syndecan 3 (SDC3), mRNA.	250	Ser/Thr-rich (mucin-like).					integral to membrane	cytoskeletal protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0393)|Colorectal(325;0.0466)|all_neural(195;0.0966)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)		STAD - Stomach adenocarcinoma(196;0.0197)|READ - Rectum adenocarcinoma(331;0.0649)		GGTAGCTGTGCTGACCAGCCT	0.711000														9			7		0	0	1	0	0
KLK5	25818	broad.mit.edu	37	19	51452340	51452340	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:51452340G>T	uc002pue.3	-	4	585	c.367C>A	c.(367-369)Ctg>Atg	p.L123M	KLK5_uc002puf.3_Missense_Mutation_p.L123M|KLK5_uc002pug.3_Missense_Mutation_p.L123M	NM_001077491	NP_036559	Q9Y337	KLK5_HUMAN	Homo sapiens kallikrein-related peptidase 5 (KLK5), transcript variant 2, mRNA.	123	Peptidase S1.				epidermis development|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis	extracellular space	protein binding|serine-type endopeptidase activity	p.L123Q(1)		NS(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888)		ACTGGTGACAGGGAGTAGTGG	0.562000														76			22		5.35356e-11	6.51008e-11	1	1	0
ARMC4	55130	broad.mit.edu	37	10	28196637	28196637	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:28196637C>T	uc009xky.3	-	16	2663	c.2565G>A	c.(2563-2565)aaG>aaA	p.K855K	ARMC4_uc010qds.2_Silent_p.K380K|ARMC4_uc010qdt.2_Silent_p.K547K|ARMC4_uc001itz.3_Silent_p.K855K	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN	Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA.	855							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						CTGCGCTGGCCTTCACGTCTG	0.433000														44			24		0	0	1	0	0
PPP6R2	9701	broad.mit.edu	37	22	50862008	50862008	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:50862008G>A	uc003blb.2	+	10	1512	c.1090G>A	c.(1090-1092)Gag>Aag	p.E364K	PPP6R2_uc003blc.3_Missense_Mutation_p.E364K|PPP6R2_uc003bky.2_Missense_Mutation_p.E364K|PPP6R2_uc003bla.2_Missense_Mutation_p.E365K|PPP6R2_uc003bkz.2_Missense_Mutation_p.E364K|AB372727_uc011arw.2_5'Flank	NM_001242898	NP_001229827	O75170	PP6R2_HUMAN	Homo sapiens protein phosphatase 6, regulatory subunit 2 (PPP6R2), transcript variant 1, mRNA.	364						cytoplasm|intracellular membrane-bounded organelle	protein binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	22						CATCAACCAGGAGCTCTGCCG	0.622000														28			18		0	0	1	0	0
CALB1	793	broad.mit.edu	37	8	91072448	91072448	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:91072448G>A	uc003yel.1	-	10	921	c.739C>T	c.(739-741)Ctg>Ttg	p.L247L	CALB1_uc011lge.1_Silent_p.L190L	NM_004929	NP_004920	P05937	CALB1_HUMAN	Homo sapiens calbindin 1, 28kDa (CALB1), mRNA.	247						nucleus	calcium ion binding|vitamin D binding			breast(1)|kidney(1)|lung(8)|pancreas(1)	11			BRCA - Breast invasive adenocarcinoma(11;0.00953)			GTTCGGTACAGCTTCCCTCCA	0.393000														70			55		0	0	1	0	0
BTBD17	388419	broad.mit.edu	37	17	72356130	72356130	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:72356130C>T	uc002jkn.2	-	1	340	c.340G>A	c.(340-342)Gct>Act	p.A114T		NM_001080466	NP_001073935	A6NE02	BTBDH_HUMAN	Homo sapiens BTB (POZ) domain containing 17 (BTBD17), mRNA.	114	BTB.					extracellular region				endometrium(1)|kidney(1)|lung(4)	6						TCGAAGACAGCGGCGCAGTCC	0.637000														29			24		0	0	1	0	0
RNF8	9025	broad.mit.edu	37	6	37328321	37328321	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:37328321G>A	uc003onq.4	+	1	404	c.211G>A	c.(211-213)Gag>Aag	p.E71K	RNF8_uc003onr.4_Missense_Mutation_p.E71K|RNF8_uc011dtx.2_5'UTR	NM_003958	NP_003949	O76064	RNF8_HUMAN	Homo sapiens ring finger protein 8 (RNF8), transcript variant 1, mRNA.	71	FHA.				cell division|double-strand break repair|histone H2A ubiquitination|histone H2B ubiquitination|mitosis|positive regulation of DNA repair|response to ionizing radiation	midbody|nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	13						GCAGAATCCTGAGGGCCAATG	0.383000														63			6		0	0	1	0	0
TXNDC16	57544	broad.mit.edu	37	14	52922112	52922112	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:52922112C>T	uc001wzs.3	-	17	2221	c.1772G>A	c.(1771-1773)aGc>aAc	p.S591N	TXNDC16_uc010tqu.2_Missense_Mutation_p.S586N|TXNDC16_uc010aoe.3_Non-coding_Transcript	NM_020784	NP_065835	Q9P2K2	TXD16_HUMAN	Homo sapiens thioredoxin domain containing 16 (TXNDC16), transcript variant 1, mRNA.	591					cell redox homeostasis	extracellular region				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21	Breast(41;0.0716)					TAGTGGGATGCTCTCTATTTT	0.403000														32			32		0	0	1	0	0
ANGPT1	284	broad.mit.edu	37	8	108296941	108296941	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:108296941A>C	uc003ymn.3	-	6	1642	c.1174T>G	c.(1174-1176)Ttc>Gtc	p.F392V	ANGPT1_uc011lhv.2_Missense_Mutation_p.F192V|ANGPT1_uc003ymo.3_Missense_Mutation_p.F391V|ANGPT1_uc003ymp.4_Missense_Mutation_p.F191V	NM_001146	NP_001137	Q15389	ANGP1_HUMAN	Homo sapiens angiopoietin 1 (ANGPT1), transcript variant 1, mRNA.	392	Fibrinogen C-terminal.				Tie receptor signaling pathway|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of ERK1 and ERK2 cascade|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding			NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			CCTATGTGGAATCTGTCATAC	0.388000														55			13		0	0	1	0	0
C1orf94	84970	broad.mit.edu	37	1	34663184	34663184	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:34663184C>T	uc001bxt.3	+	1	1517	c.679C>T	c.(679-681)Cgc>Tgc	p.R227C	C1orf94_uc001bxs.4_Missense_Mutation_p.R37C	NM_001134734	NP_116273	Q6P1W5	CA094_HUMAN	Homo sapiens chromosome 1 open reading frame 94 (C1orf94), transcript variant 1, mRNA.	37							protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				GGACAGGGGCCGCATCCTAGG	0.542000														32			9		0	0	1	0	0
MEGF8	1954	broad.mit.edu	37	19	42866664	42866664	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:42866664C>T	uc002otl.4	+	32	6407	c.5772C>T	c.(5770-5772)tgC>tgT	p.C1924C	MEGF8_uc002otm.4_Silent_p.C1532C	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN	Homo sapiens multiple EGF-like-domains 8 (MEGF8), mRNA.	1991	PSI 5.					integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				CAGGGAACTGCTCCGAGGCTG	0.627000														97			7		0	0	1	0	0
MYO18A	399687	broad.mit.edu	37	17	27413970	27413970	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:27413970C>T	uc002hdt.1	-	37	5854	c.5696G>A	c.(5695-5697)cGc>cAc	p.R1899H	MYO18A_uc010wbc.1_Missense_Mutation_p.R1432H|MYO18A_uc002hds.2_Missense_Mutation_p.R1441H|MYO18A_uc010csa.1_Missense_Mutation_p.R1862H|MYO18A_uc002hdu.1_Missense_Mutation_p.R1899H	NM_078471	NP_510880	Q92614	MY18A_HUMAN	Homo sapiens myosin XVIIIA (MYO18A), transcript variant 1, mRNA.	1899					DNA metabolic process|anti-apoptosis	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			GTGCTTCTTGCGGCTCGCCTC	0.627000														3			3		0	0	1	0	0
OXSM	54995	broad.mit.edu	37	3	25835792	25835792	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:25835792C>A	uc003cdn.3	+	2	1294	c.1187C>A	c.(1186-1188)gCt>gAt	p.A396D	OXSM_uc010hfh.3_Missense_Mutation_p.A313D|OXSM_uc011awp.2_Missense_Mutation_p.A121D	NM_017897	NP_060367	Q9NWU1	OXSM_HUMAN	Homo sapiens 3-oxoacyl-ACP synthase, mitochondrial (OXSM), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	396					acyl-CoA metabolic process|medium-chain fatty acid biosynthetic process|short-chain fatty acid biosynthetic process	mitochondrion	3-oxoacyl-[acyl-carrier-protein] synthase activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						GTCGAGGCAGCTTTTACCACA	0.438000														93			9		1.12685e-05	1.25391e-05	1	1	0
ADAM9	8754	broad.mit.edu	37	8	38884200	38884200	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:38884200G>T	uc003xmr.3	+	10	1079	c.1001G>T	c.(1000-1002)gGa>gTa	p.G334V	ADAM9_uc010lwr.3_Non-coding_Transcript|ADAM9_uc011lcf.2_Non-coding_Transcript|ADAM9_uc011lcg.2_Non-coding_Transcript	NM_003816	NP_003807	Q13443	ADAM9_HUMAN	Homo sapiens ADAM metallopeptidase domain 9 (ADAM9), transcript variant 1, mRNA.	334	Peptidase M12B.				PMA-inducible membrane protein ectodomain proteolysis|activation of MAPKK activity|cell-cell adhesion mediated by integrin|cell-matrix adhesion|keratinocyte differentiation|monocyte activation|positive regulation of cell adhesion mediated by integrin|positive regulation of keratinocyte migration|positive regulation of macrophage fusion|positive regulation of membrane protein ectodomain proteolysis|positive regulation of protein secretion|response to calcium ion|response to glucocorticoid stimulus|response to hydrogen peroxide|response to manganese ion|response to tumor necrosis factor|transforming growth factor beta receptor signaling pathway	extracellular space|integral to membrane|intrinsic to external side of plasma membrane	SH3 domain binding|collagen binding|integrin binding|laminin binding|metalloendopeptidase activity|protein kinase C binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;2.74e-07)			GAACAGTTTGGACAAATCACT	0.373000														142			10		3.86212e-05	4.23294e-05	1	1	0
NRP1	8829	broad.mit.edu	37	10	33475278	33475278	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:33475278C>A	uc001iwx.4	-	13	2724	c.2201G>T	c.(2200-2202)gGc>gTc	p.G734V	NRP1_uc001iwv.4_Missense_Mutation_p.G734V|NRP1_uc001iwy.4_Missense_Mutation_p.G727V|NRP1_uc009xlz.3_Missense_Mutation_p.G728V|NRP1_uc001iww.4_Missense_Mutation_p.G546V	NM_003873	NP_003864	O14786	NRP1_HUMAN	Homo sapiens neuropilin 1 (NRP1), transcript variant 1, mRNA.	734	MAM.				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	CCTGAGTGTGCCGACGTGGGA	0.572000														23			19		6.94344e-10	8.32448e-10	1	1	0
UBR1	197131	broad.mit.edu	37	15	43307949	43307949	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:43307949T>C	uc001zqq.3	-	28	3212	c.3146A>G	c.(3145-3147)aAa>aGa	p.K1049R	UBR1_uc010udk.1_Missense_Mutation_p.K1049R	NM_174916	NP_777576	Q8IWV7	UBR1_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 1 (UBR1), mRNA.	1049					cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		ATACATGAGTTTATGAGTTTC	0.373000														148			9		0	0	1	0	0
HDAC4	9759	broad.mit.edu	37	2	240029749	240029749	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:240029749G>A	uc002vyk.4	-	14	2886	c.2094C>T	c.(2092-2094)tgC>tgT	p.C698C	HDAC4_uc010fyz.1_Silent_p.C693C|HDAC4_uc010zoa.1_Silent_p.C698C|HDAC4_uc010fza.2_Silent_p.C703C|HDAC4_uc010fyy.3_Silent_p.C655C|HDAC4_uc010znz.1_Silent_p.C581C	NM_006037	NP_006028	P56524	HDAC4_HUMAN	Homo sapiens histone deacetylase 4 (HDAC4), mRNA.	698	Histone deacetylase.				B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|potassium ion binding|repressing transcription factor binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		GCGTTACCTCGCATTTGCCCC	0.672000														8			10		0	0	1	0	0
METTL22	79091	broad.mit.edu	37	16	8729111	8729111	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:8729111C>T	uc002cyz.3	+	4	918	c.642C>T	c.(640-642)gcC>gcT	p.A214A	METTL22_uc021tcq.1_Non-coding_Transcript	NM_024109	NP_077014	Q9BUU2	MET22_HUMAN	Homo sapiens methyltransferase like 22 (METTL22), mRNA.	214							methyltransferase activity			large_intestine(5)|lung(4)	9						AGCTCGGGGCCGGCACGGGGC	0.612000														41			35		0	0	1	0	0
C1R	715	broad.mit.edu	37	12	7241913	7241913	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:7241913T>C	uc010sfy.2	-	4	803	c.744A>G	c.(742-744)gtA>gtG	p.V248V	C1R_uc010sfz.1_Silent_p.V262V|C1R_uc021quh.1_Silent_p.V137V|C1R_uc010sga.1_Silent_p.V214V	NM_001733	NP_001724	P00736	C1R_HUMAN	Homo sapiens complement component 1, r subcomponent (C1R), mRNA.	248	CUB 2.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|pancreas(1)	16					Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	AGGGGCAGTGTACTTGCTGGT	0.582000														16			6		0	0	1	0	0
ABCB7	22	broad.mit.edu	37	X	74282213	74282213	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:74282213C>A	uc004ebz.3	-	13	1913	c.1888G>T	c.(1888-1890)Gtc>Ttc	p.V630F	ABCB7_uc010nlt.3_Missense_Mutation_p.V589F|ABCB7_uc004eca.3_Missense_Mutation_p.V629F|ABCB7_uc011mqn.2_Missense_Mutation_p.V603F|ABCB7_uc010nls.3_Missense_Mutation_p.V590F	NM_004299	NP_004290	O75027	ABCB7_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 7 (ABCB7), nuclear gene encoding mitochondrial protein, mRNA.	629	ABC transporter.				cellular iron ion homeostasis	integral to membrane|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|heme transporter activity			breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)	20						TAGAGTATGACTGGGGGGTCC	0.348000														63			5		0.014758	0.0151755	1	1	0
WDR55	54853	broad.mit.edu	37	5	140049100	140049100	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140049100G>A	uc003lgr.4	+	6	1127	c.1013G>A	c.(1012-1014)cGc>cAc	p.R338H	WDR55_uc011czl.1_3'UTR	NM_017706	NP_060176	Q9H6Y2	WDR55_HUMAN	Homo sapiens WD repeat domain 55 (WDR55), mRNA.	338					rRNA processing	cytoplasm|nucleolus		p.R338H(2)		NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TACCGTCGGCGCAAAAAAAAG	0.592000														13			5		0	0	1	0	0
CRNKL1	51340	broad.mit.edu	37	20	20036606	20036606	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:20036606G>T	uc002wrs.3	-	0	85	c.53C>A	c.(52-54)gCt>gAt	p.A18D	C20orf26_uc010gcw.2_Intron|C20orf26_uc010zse.2_Intron|C20orf26_uc002wru.3_Intron|C20orf26_uc010zsf.1_5'Flank|CRNKL1_uc002wrt.1_Missense_Mutation_p.A18D	NM_016652	NP_057736	Q9BZJ0	CRNL1_HUMAN	Homo sapiens crooked neck pre-mRNA splicing factor-like 1 (Drosophila) (CRNKL1), mRNA.	18					spliceosome assembly	catalytic step 2 spliceosome|cytoplasm|nuclear speck	RNA binding			breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						TTTGTCAAcagcatttcccaa	0.418000														67			46		1.48734e-19	1.91498e-19	1	1	0
ZNF426	79088	broad.mit.edu	37	19	9639588	9639588	+	Missense_Mutation	SNP	C	T	T	rs143787580		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9639588C>T	uc002mlq.3	-	7	1397	c.1133G>A	c.(1132-1134)cGc>cAc	p.R378H	ZNF426_uc010dws.3_Missense_Mutation_p.R340H	NM_024106	NP_077011	Q9BUY5	ZN426_HUMAN	Homo sapiens zinc finger protein 426 (ZNF426), mRNA.	378					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R378H(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20						TTGAATAAGGCGTGAGGATGT	0.428000														27			20		0	0	1	0	0
SECISBP2	79048	broad.mit.edu	37	9	91963028	91963028	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:91963028G>A	uc004aqj.1	+	11	1717	c.1637G>A	c.(1636-1638)cGt>cAt	p.R546H	SECISBP2_uc010mqo.1_Missense_Mutation_p.R251H|SECISBP2_uc004aqk.1_Missense_Mutation_p.R473H|SECISBP2_uc011ltk.1_Missense_Mutation_p.R545H|SECISBP2_uc011ltl.1_Missense_Mutation_p.R478H	NM_024077	NP_076982	Q96T21	SEBP2_HUMAN	Homo sapiens SECIS binding protein 2 (SECISBP2), mRNA.	546					translation	nucleus	mRNA 3'-UTR binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2)	32						AGAAAGCAGCGTCTCCAAGAA	0.393000														39			21		0	0	1	0	0
SEC14L1	6397	broad.mit.edu	37	17	75208175	75208175	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:75208175C>A	uc010dhc.3	+	14	2075	c.1755C>A	c.(1753-1755)acC>acA	p.T585T	SEC14L1_uc021udw.1_Silent_p.T585T|SEC14L1_uc021udx.1_Silent_p.T585T|SEC14L1_uc002jto.3_Silent_p.T585T|SEC14L1_uc010wth.2_Silent_p.T585T|SEC14L1_uc002jtm.3_Silent_p.T585T|SEC14L1_uc010wti.2_Silent_p.T551T|SEC14L1_uc010wtj.1_Intron|SEC14L1_uc002jtr.2_5'UTR	NM_001039573	NP_001191337	Q92503	S14L1_HUMAN	Homo sapiens SEC14-like 1 (S. cerevisiae) (SEC14L1), transcript variant 2, mRNA.	585	GOLD.				transport	Golgi apparatus|integral to membrane	binding			NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						ACAGCATCACCTCTCCGGGTG	0.532000														143			101		3.53432e-41	4.69867e-41	1	1	0
PRPF40B	25766	broad.mit.edu	37	12	50027255	50027255	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:50027255G>T	uc001rur.1	+	6	502	c.439G>T	c.(439-441)Ggc>Tgc	p.G147C	PRPF40B_uc001rup.1_Missense_Mutation_p.G169C|PRPF40B_uc001ruq.1_Missense_Mutation_p.G141C|PRPF40B_uc001rus.1_Missense_Mutation_p.G90C	NM_001031698	NP_001026868	Q6NWY9	PR40B_HUMAN	Homo sapiens PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae) (PRPF40B), transcript variant 1, mRNA.	147	WW 2.				RNA splicing|mRNA processing	nuclear speck				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						GTCGGACACAGGCAAACCTTA	0.547000														249			20		8.28177e-16	1.04585e-15	1	1	0
EIF1AX	1964	broad.mit.edu	37	X	20150322	20150322	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:20150322T>C	uc004czt.3	-	4	523	c.315A>G	c.(313-315)gcA>gcG	p.A105A		NM_001412	NP_001403	P47813	IF1AX_HUMAN	Homo sapiens eukaryotic translation initiation factor 1A, X-linked (EIF1AX), mRNA.	105						cytosol	translation initiation factor activity			endometrium(2)|lung(1)|ovary(1)|prostate(1)	5						GCTCGCCGTATGCCTTCAGAC	0.353000														46			27		0	0	1	0	0
CDH23	64072	broad.mit.edu	37	10	73571499	73571499	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:73571499C>T	uc001jrx.4	+	62	9689	c.9299C>T	c.(9298-9300)gCt>gTt	p.A3100V	CDH23_uc001jsg.4_Missense_Mutation_p.A863V|CDH23_uc001jsh.4_Missense_Mutation_p.A863V|CDH23_uc001jsi.4_Missense_Mutation_p.A863V|CDH23_uc001jsj.4_5'Flank|CDH23_uc010qjr.2_5'Flank	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA.	3103					calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						GCCATTGTGGCTGGCTCAGCT	0.647000														2			2		0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10465182	10465182	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:10465182C>A	uc003wtc.3	-	3	6655	c.6426G>T	c.(6424-6426)caG>caT	p.Q2142H		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	2142					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CTGACTCAGGCTGGGCCTCCC	0.617000														178			11		4.36969e-10	5.24943e-10	1	1	0
FBXO43	286151	broad.mit.edu	37	8	101153118	101153118	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:101153118C>A	uc003yjd.3	-	1	2100	c.1364G>T	c.(1363-1365)aGg>aTg	p.R455M	FBXO43_uc003yje.3_Missense_Mutation_p.R421M|FBXO43_uc010mbp.2_Missense_Mutation_p.R455M	NM_001029860	NP_001025031	Q4G163	FBX43_HUMAN	Homo sapiens F-box protein 43 (FBXO43), transcript variant 2, mRNA.	455					meiosis		zinc ion binding			endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			TAATCTTTTCCTCTTGCTTTT	0.423000														172			10		0.000978159	0.00103832	1	1	0
TTN	7273	broad.mit.edu	37	2	179418746	179418746	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179418746G>A	uc021vsy.1	-	281	81613	c.81388C>T	c.(81388-81390)Ctc>Ttc	p.L27130F	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.L20825F|TTN_uc021vta.1_Missense_Mutation_p.L20758F|TTN_uc021vtb.1_Missense_Mutation_p.L20633F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	28057	Ig-like 129.						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)			TTTTCTGTGAGTCCTGTTACT	0.408000														76			40		0	0	1	0	0
PREX1	57580	broad.mit.edu	37	20	47309244	47309244	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:47309244T>G	uc002xtw.1	-	7	1025	c.1002A>C	c.(1000-1002)gaA>gaC	p.E334D		NM_020820	NP_065871	Q8TCU6	PREX1_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1 (PREX1), mRNA.	334	PH.				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|enzyme binding|phospholipid binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			CCTCCATGACTTCAGTGTTGA	0.577000														55			9		0	0	1	0	0
BAZ2B	29994	broad.mit.edu	37	2	160229666	160229666	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:160229666G>A	uc002uao.3	-	26	4508	c.4103C>T	c.(4102-4104)gCg>gTg	p.A1368V	BAZ2B_uc002uap.3_Missense_Mutation_p.A1332V	NM_013450	NP_038478	Q9UIF8	BAZ2B_HUMAN	Homo sapiens bromodomain adjacent to zinc finger domain, 2B (BAZ2B), mRNA.	1368					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						TGAGTGAGACGCATCAAAGAG	0.398000														46			38		0	0	1	0	0
RAI1	10743	broad.mit.edu	37	17	17700973	17700973	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:17700973G>A	uc002grm.3	+	2	5180	c.4711G>A	c.(4711-4713)Gca>Aca	p.A1571T	RAI1_uc002grn.1_Missense_Mutation_p.A1571T	NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN	Homo sapiens retinoic acid induced 1 (RAI1), mRNA.	1571						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)		CCTGGATCCCGCAGAGCCTGA	0.642000														49			33		0	0	1	0	0
PTCH1	5727	broad.mit.edu	37	9	98239054	98239054	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:98239054C>T	uc004avk.4	-	10	1777	c.1589G>A	c.(1588-1590)aGa>aAa	p.R530K	PTCH1_uc010mro.3_Missense_Mutation_p.R379K|PTCH1_uc010mrp.3_Missense_Mutation_p.R379K|PTCH1_uc010mrq.3_Missense_Mutation_p.R379K|PTCH1_uc004avl.4_Missense_Mutation_p.R379K|PTCH1_uc004avm.4_Missense_Mutation_p.R529K|PTCH1_uc010mrr.3_Missense_Mutation_p.R464K|PTCH1_uc010mrs.1_Missense_Mutation_p.R198K	NM_000264	NP_001077076	Q13635	PTC1_HUMAN	Homo sapiens patched 1 (PTCH1), transcript variant 1b, mRNA.	530	SSD.				embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity	p.R530fs*4(1)|p.K529*(1)		NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				AAAAGGGATTCTTTTATTCTG	0.418000														14			5		0	0	1	0	0
DEF6	50619	broad.mit.edu	37	6	35278292	35278292	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:35278292G>A	uc003okk.3	+	2	333	c.294G>A	c.(292-294)acG>acA	p.T98T	DEF6_uc010jvs.3_Silent_p.T98T|DEF6_uc010jvt.3_5'UTR	NM_022047	NP_071330	Q9H4E7	DEFI6_HUMAN	Homo sapiens differentially expressed in FDCP 6 homolog (mouse) (DEF6), mRNA.	98						cytoplasm|nucleus|plasma membrane				cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	15						GGACGCTGACGGCCAAGAAGA	0.537000														37			38		0	0	1	0	0
TEP1	7011	broad.mit.edu	37	14	20871901	20871901	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:20871901C>T	uc001vxe.3	-	5	1215	c.1175G>A	c.(1174-1176)cGc>cAc	p.R392H	TEP1_uc010tlf.1_Non-coding_Transcript|TEP1_uc010tlg.1_Intron	NM_007110	NP_009041	Q99973	TEP1_HUMAN	Homo sapiens telomerase-associated protein 1 (TEP1), mRNA.	392	TROVE.				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	p.R392C(1)		NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		GGGTGGCCGGCGGGGGTGTCT	0.627000														44			27		0	0	1	0	0
UBE3C	9690	broad.mit.edu	37	7	157041083	157041083	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:157041083G>A	uc010lqs.3	+	18	2815	c.2503G>A	c.(2503-2505)Gtg>Atg	p.V835M	UBE3C_uc003wni.4_Missense_Mutation_p.V198M	NM_014671	NP_055486	Q15386	UBE3C_HUMAN	Homo sapiens ubiquitin protein ligase E3C (UBE3C), mRNA.	835	HECT.				protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		GAACATGCTGGTGGAGCTGCC	0.473000														84			35		0	0	1	0	0
RAB33A	9363	broad.mit.edu	37	X	129318396	129318396	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:129318396C>A	uc004evl.3	+	1	660	c.396C>A	c.(394-396)atC>atA	p.I132I	RAB33A_uc010nre.3_Non-coding_Transcript	NM_004794	NP_004785	Q14088	RB33A_HUMAN	Homo sapiens RAB33A, member RAS oncogene family (RAB33A), mRNA.	132					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(5)	11						AAATGTGGATCCAAGAATGCA	0.507000														65			6		0.00198382	0.00208369	1	1	0
SETD1A	9739	broad.mit.edu	37	16	30977389	30977389	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:30977389G>A	uc002ead.1	+	7	2873	c.2187G>A	c.(2185-2187)ccG>ccA	p.P729P		NM_014712	NP_055527	O15047	SET1A_HUMAN	Homo sapiens SET domain containing 1A (SETD1A), mRNA.	729					regulation of transcription, DNA-dependent|transcription, DNA-dependent	Set1C/COMPASS complex|chromosome|nuclear speck	RNA binding|histone-lysine N-methyltransferase activity|nucleotide binding|protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						ACGGCTTGCCGTATGCTCTAT	0.672000														42			28		0	0	1	0	0
CHCHD2	51142	broad.mit.edu	37	7	56171950	56171950	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:56171950G>A	uc003tsa.3	-	1	350	c.269C>T	c.(268-270)gCt>gTt	p.A90V	PSPH_uc003trj.3_Intron	NM_016139	NP_057223	Q9Y6H1	CHCH2_HUMAN	Homo sapiens coiled-coil-helix-coiled-coil-helix domain containing 2 (CHCHD2), nuclear gene encoding mitochondrial protein, mRNA.	90						mitochondrion				endometrium(1)|large_intestine(1)|lung(3)	5	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CGCAGGCTCAGCATTACTTCC	0.547000														88			29		0	0	1	0	0
TRHR	7201	broad.mit.edu	37	8	110131387	110131387	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:110131387G>A	uc003ymz.4	+	1	989	c.900G>A	c.(898-900)tgG>tgA	p.W300*		NM_003301	NP_003292	P34981	TRFR_HUMAN	Homo sapiens thyrotropin-releasing hormone receptor (TRHR), mRNA.	300						integral to plasma membrane	thyrotropin-releasing hormone receptor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			AAGAAAATTGGTTTTTGCTCT	0.433000														162			98		0	0	1	0	0
ELOVL7	79993	broad.mit.edu	37	5	60053414	60053414	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:60053414G>T	uc003jsi.4	-	7	758	c.558C>A	c.(556-558)tcC>tcA	p.S186S	ELOVL7_uc011cqo.2_Silent_p.S99S|ELOVL7_uc010iwk.3_Silent_p.S186S|ELOVL7_uc003jsj.4_Silent_p.S173S	NM_024930	NP_079206	A1L3X0	ELOV7_HUMAN	Homo sapiens ELOVL fatty acid elongase 7 (ELOVL7), transcript variant 1, mRNA.	186					fatty acid elongation, polyunsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	9		Lung NSC(810;2.56e-06)|Prostate(74;0.0115)|Breast(144;0.0244)|Ovarian(174;0.0481)				GTCCATAGTAGGAATACATGA	0.373000														65			6		0.00307968	0.00322291	1	1	0
MOSPD3	64598	broad.mit.edu	37	7	100211276	100211276	+	Missense_Mutation	SNP	G	A	A	rs144565703		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100211276G>A	uc003uvq.3	+	3	660	c.458G>A	c.(457-459)cGc>cAc	p.R153H	MOSPD3_uc003uvr.3_Missense_Mutation_p.R153H|MOSPD3_uc003uvs.3_Missense_Mutation_p.R153H|MOSPD3_uc003uvt.3_Missense_Mutation_p.R143H	NM_001040097	NP_076438	O75425	MSPD3_HUMAN	Homo sapiens motile sperm domain containing 3 (MOSPD3), transcript variant 2, mRNA.	153						integral to membrane	structural molecule activity	p.R153H(2)		breast(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					CCAGCGCCTCGCCCAGGGCCT	0.627000														37			18		0	0	1	0	0
PRRC2A	7916	broad.mit.edu	37	6	31604861	31604861	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31604861C>A	uc003nvb.4	+	28	6439	c.6190C>A	c.(6190-6192)Ctg>Atg	p.L2064M	PRRC2A_uc003nvc.4_Missense_Mutation_p.L2064M	NM_080686	NP_542417	P48634	PRC2A_HUMAN	Homo sapiens proline-rich coiled-coil 2A (PRRC2A), transcript variant 1, mRNA.	2064	3 X 50 AA type C repeats.					cytoplasm|nucleus	protein binding			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						TTATCAAAAACTGAGCAGCAA	0.488000														72			6		0.00307968	0.00322291	1	1	0
HSDL1	83693	broad.mit.edu	37	16	84163651	84163651	+	Silent	SNP	C	T	T	rs148654230	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:84163651C>T	uc002fhk.2	-	3	790	c.606G>A	c.(604-606)acG>acA	p.T202T	HSDL1_uc010vnv.1_Silent_p.T147T	NM_031463	NP_113651	Q3SXM5	HSDL1_HUMAN	Homo sapiens hydroxysteroid dehydrogenase like 1 (HSDL1), transcript variant 1, mRNA.	202						mitochondrion	oxidoreductase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7						CAGAAGAGATCGTGACGATGG	0.483000														44			19		0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216496819	216496819	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:216496819C>T	uc001hku.1	-	7	1934	c.1547G>A	c.(1546-1548)gGg>gAg	p.G516E	USH2A_uc001hkv.3_Missense_Mutation_p.G516E	NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	516	Laminin N-terminal.		G -> V (in USH2A; uncertain pathogenicity).		maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ATAATACCTCCCACTAATGGT	0.368000										HNSCC(13;0.011)				53			29		0	0	1	0	0
STX4	6810	broad.mit.edu	37	16	31049324	31049324	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:31049324C>T	uc002eal.3	+	5	680	c.456C>T	c.(454-456)aaC>aaT	p.N152N	STX4_uc002eak.3_Silent_p.N150N|STX4_uc002eam.3_Silent_p.N74N	NM_004604	NP_004595	Q12846	STX4_HUMAN	Homo sapiens syntaxin 4 (STX4), mRNA.	152					intracellular protein transport|platelet activation|post-Golgi vesicle-mediated transport	basolateral plasma membrane|cell surface|cytosol|integral to membrane|plasma membrane enriched fraction|specific granule|vacuole	SNAP receptor activity			NS(2)|breast(1)|large_intestine(3)|lung(3)	9						GGGAGAAGAACGTGGAGCGGA	0.547000														36			13		0	0	1	0	0
PDE7A	5150	broad.mit.edu	37	8	66637059	66637059	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:66637059C>A	uc003xvq.3	-	9	1244	c.1018G>T	c.(1018-1020)Ggt>Tgt	p.G340C	PDE7A_uc003xvr.3_Missense_Mutation_p.G340C|PDE7A_uc003xvp.3_Missense_Mutation_p.G314C	NM_001242318	NP_001229247	Q13946	PDE7A_HUMAN	Homo sapiens phosphodiesterase 7A (PDE7A), transcript variant 3, mRNA.	340	Catalytic (By similarity).					cell fraction|cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			large_intestine(5)|lung(3)|stomach(1)|urinary_tract(1)	10			Epithelial(68;0.0509)|BRCA - Breast invasive adenocarcinoma(89;0.111)|all cancers(69;0.168)|OV - Ovarian serous cystadenocarcinoma(28;0.238)		Dyphylline(DB00651)|Ketotifen(DB00920)	CATAAATCACCTCTATCCAAA	0.413000														94			7		1	1	1	1	0
CENPO	79172	broad.mit.edu	37	2	25038367	25038367	+	Splice_Site	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:25038367C>A	uc002rfq.2	+	5	462	c.335_splice	c.e5-1	p.G112_splice	CENPO_uc002rfp.2_Splice_Site_p.G106_splice	NM_024322	NP_077298	Q9BU64	CENPO_HUMAN	Homo sapiens centromere protein O (CENPO), transcript variant 1, mRNA.	112					CenH3-containing nucleosome assembly at centromere|cell division|chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			breast(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					TTGCCTCAGGCCTCAGTGGTA	0.473000														58			46		2.81731e-22	3.65803e-22	1	1	0
TEKT3	64518	broad.mit.edu	37	17	15215722	15215722	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:15215722C>T	uc002gon.3	-	6	1142	c.955G>A	c.(955-957)Gct>Act	p.A319T		NM_031898	NP_114104	Q9BXF9	TEKT3_HUMAN	Homo sapiens tektin 3 (TEKT3), mRNA.	319					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				endometrium(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	23				UCEC - Uterine corpus endometrioid carcinoma (92;0.0877)		CTTAGCTTAGCGGAAGCTGCC	0.458000														57			25		0	0	1	0	0
DENND2C	163259	broad.mit.edu	37	1	115151396	115151396	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:115151396G>T	uc001efd.1	-	9	2170	c.1468C>A	c.(1468-1470)Ctg>Atg	p.L490M	DENND2C_uc001eez.3_Non-coding_Transcript|DENND2C_uc001efc.1_Missense_Mutation_p.L433M	NM_198459	NP_940861	Q68D51	DEN2C_HUMAN	Homo sapiens DENN/MADD domain containing 2C (DENND2C), transcript variant 2, mRNA.	490										NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGTTCAAACAGCTGCTGCTCC	0.463000														42			38		9.8876e-21	1.27793e-20	1	1	0
LEPR	3953	broad.mit.edu	37	1	66067541	66067541	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:66067541T>G	uc001dci.3	+	9	1690	c.1301T>G	c.(1300-1302)aTc>aGc	p.I434S	LEPR_uc001dcg.3_Missense_Mutation_p.I434S|LEPR_uc001dch.3_Missense_Mutation_p.I434S|LEPR_uc009waq.3_Intron|LEPR_uc021ool.1_Missense_Mutation_p.I434S|LEPR_uc001dcj.3_Missense_Mutation_p.I434S|LEPR_uc001dck.3_Missense_Mutation_p.I434S	NM_002303	NP_002294	P48357	LEPR_HUMAN	Homo sapiens leptin receptor (LEPR), transcript variant 1, mRNA.	434					energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		AATATCAATATCTCATGTGAA	0.294000														63			5		0	0	1	0	0
XRN1	54464	broad.mit.edu	37	3	142037526	142037526	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:142037526C>T	uc003eus.3	-	38	4593	c.4526G>A	c.(4525-4527)gGc>gAc	p.G1509D	XRN1_uc010huu.3_Missense_Mutation_p.G976D|XRN1_uc003eut.3_Missense_Mutation_p.G1509D|XRN1_uc003euu.3_Missense_Mutation_p.G1510D	NM_019001	NP_061874	Q8IZH2	XRN1_HUMAN	Homo sapiens 5'-3' exoribonuclease 1 (XRN1), transcript variant 1, mRNA.	1509					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	Golgi apparatus|cytosol|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|RNA binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						GAAATTCATGCCTAAGGAGCC	0.393000														14			7		0	0	1	0	0
TMEM26	219623	broad.mit.edu	37	10	63170129	63170129	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:63170129G>T	uc001jlo.2	-	5	1427	c.1058C>A	c.(1057-1059)cCt>cAt	p.P353H	TMEM26_uc001jlp.1_Non-coding_Transcript	NM_178505	NP_848600	Q6ZUK4	TMM26_HUMAN	Homo sapiens transmembrane protein 26 (TMEM26), mRNA.	353						integral to membrane				kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	18	Prostate(12;0.0112)					GCCCCGCAAAGGAATAGCCAG	0.582000														36			5		0.014758	0.0151755	1	1	0
CELSR3	1951	broad.mit.edu	37	3	48689388	48689388	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:48689388C>T	uc003cuf.1	-	13	6055	c.6055G>A	c.(6055-6057)Gcc>Acc	p.A2019T	CELSR3_uc010hkg.3_5'UTR|CELSR3_uc003cul.3_Missense_Mutation_p.A1949T	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA.	1949	EGF-like 6; calcium-binding.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GAGGCACAGGCGTTGGTCACA	0.672000														56			7		0	0	1	0	0
PIGA	5277	broad.mit.edu	37	X	15349838	15349838	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:15349838T>C	uc004cwr.3	-	1	331	c.215A>G	c.(214-216)cAt>cGt	p.H72R	PIGA_uc010nev.3_Missense_Mutation_p.H72R|PIGA_uc004cwq.3_5'UTR|PIGA_uc004cws.3_Intron|PIGA_uc011miq.2_Intron	NM_002641	NP_002632	P37287	PIGA_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class A (PIGA), transcript variant 1, mRNA.	72					C-terminal protein lipidation|positive regulation of metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity|protein binding			endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)|prostate(2)|urinary_tract(1)	10	Hepatocellular(33;0.183)					TCCATAAGCATGGGTGACAAT	0.458000														84			49		0	0	1	0	0
GLIS1	148979	broad.mit.edu	37	1	53980441	53980441	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:53980441G>A	uc001cvr.1	-	6	1782	c.1215C>T	c.(1213-1215)ggC>ggT	p.G405G		NM_147193	NP_671726	Q8NBF1	GLIS1_HUMAN	Homo sapiens GLIS family zinc finger 1 (GLIS1), mRNA.	405					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						GGGTGATGGAGCCAGGATACA	0.607000														21			16		0	0	1	0	0
ALAS1	211	broad.mit.edu	37	3	52238733	52238733	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52238733G>A	uc011bec.2	+	5	973	c.653G>A	c.(652-654)cGt>cAt	p.R218H	ALAS1_uc003dcy.2_Missense_Mutation_p.R201H|ALAS1_uc003dcz.2_Missense_Mutation_p.R201H	NM_199166	NP_954635	P13196	HEM1_HUMAN	Homo sapiens aminolevulinate, delta-, synthase 1 (ALAS1), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	201					heme biosynthetic process	mitochondrial matrix	5-aminolevulinate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			endometrium(3)|kidney(3)|large_intestine(7)|liver(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	CAGTATGATCGTTTCTTTGAG	0.383000														29			16		0	0	1	0	0
TNRC6A	27327	broad.mit.edu	37	16	24801111	24801111	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:24801111C>A	uc002dmm.3	+	5	1262	c.1148C>A	c.(1147-1149)cCt>cAt	p.P383H	TNRC6A_uc010bxs.3_Missense_Mutation_p.P130H|TNRC6A_uc010vcc.1_Missense_Mutation_p.P130H|TNRC6A_uc002dmn.3_Missense_Mutation_p.P130H|TNRC6A_uc002dmo.3_Missense_Mutation_p.P130H	NM_014494	NP_055309	Q8NDV7	TNR6A_HUMAN	Homo sapiens trinucleotide repeat containing 6A (TNRC6A), mRNA.	383	Sufficient for interaction with EIF2C1, EIF2C3 and EIF2C4.|Sufficient for interaction with EIF2C2.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	RNA binding|nucleotide binding	p.G382G(1)		breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		CTAAAAGGGCCTGTAGGGAGT	0.438000														58			10		0.00829132	0.00860413	1	1	0
NOTCH3	4854	broad.mit.edu	37	19	15303018	15303018	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:15303018G>A	uc002nan.3	-	3	508	c.432C>T	c.(430-432)tgC>tgT	p.C144C	NOTCH3_uc002nao.1_Silent_p.C144C	NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	Homo sapiens notch 3 (NOTCH3), mRNA.	144	EGF-like 3.		C -> F (in CADASIL).|C -> S (in CADASIL).|C -> Y (in CADASIL).		Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			GTGGGCAGGAGCAGAGGAAGC	0.692000														9			5		0	0	1	0	0
NPM1	4869	broad.mit.edu	37	5	170827849	170827849	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:170827849C>T	uc003mbi.3	+	7	834	c.589C>T	c.(589-591)Cga>Tga	p.R197*	NPM1_uc003mbh.3_Nonsense_Mutation_p.R197*|NPM1_uc003mbj.3_Intron	NM_002520	NP_002511	P06748	NPM_HUMAN	Homo sapiens nucleophosmin (nucleolar phosphoprotein B23, numatrin) (NPM1), transcript variant 1, mRNA.	197					CenH3-containing nucleosome assembly at centromere|DNA repair|anti-apoptosis|cell aging|centrosome cycle|interspecies interaction between organisms|intracellular protein transport|negative regulation of cell proliferation|negative regulation of centrosome duplication|nucleocytoplasmic transport|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|regulation of endodeoxyribonuclease activity|regulation of endoribonuclease activity|ribosome assembly|signal transduction	nucleolus|nucleoplasm|ribonucleoprotein complex|spindle pole centrosome	NF-kappaB binding|RNA binding|Tat protein binding|histone binding|protein binding|protein heterodimerization activity|protein homodimerization activity|ribosomal large subunit binding|ribosomal small subunit binding|transcription coactivator activity|unfolded protein binding		NPM1/ALK(632)	central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4261)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	4269	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GCAGTCTATACGAGATACTCC	0.398000			"""T, F """	"""ALK, RARA, MLF1"""	"""NHL, APL, AML"""									31			7		0	0	1	0	0
MFN2	9927	broad.mit.edu	37	1	12056244	12056244	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:12056244G>A	uc001atn.4	+	4	796	c.343G>A	c.(343-345)Gcc>Acc	p.A115T	MFN2_uc009vni.3_Missense_Mutation_p.A115T	NM_014874	NP_055689	O95140	MFN2_HUMAN	Homo sapiens mitofusin 2 (MFN2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	115					blood coagulation|mitochondrial fusion|mitochondrial membrane organization|mitochondrion localization|negative regulation of Ras protein signal transduction|negative regulation of smooth muscle cell proliferation|protein targeting to mitochondrion	cytosol|integral to membrane|intrinsic to mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding			endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	20	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		CGTGATCAATGCCATGCTCTG	0.517000														30			24		0	0	1	0	0
ZNF35	7584	broad.mit.edu	37	3	44701410	44701410	+	Nonsense_Mutation	SNP	C	T	T	rs148645131		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:44701410C>T	uc003cnq.3	+	3	1776	c.1555C>T	c.(1555-1557)Cga>Tga	p.R519*	ZNF35_uc003cnr.3_Nonsense_Mutation_p.R359*	NM_003420	NP_003411	P13682	ZNF35_HUMAN	Homo sapiens zinc finger protein 35 (ZNF35), mRNA.	519					cellular response to retinoic acid|spermatogenesis	nucleus|perinuclear region of cytoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(3)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	12		Ovarian(412;0.0228)		OV - Ovarian serous cystadenocarcinoma(275;2.49e-27)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)		ACACCTCATGCGACACCATAG	0.498000														33			29		0	0	1	0	0
DLGAP1	9229	broad.mit.edu	37	18	3582061	3582061	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:3582061G>T	uc002kmf.3	-	7	2304	c.1777C>A	c.(1777-1779)Ctg>Atg	p.L593M	DLGAP1_uc010wyz.2_Missense_Mutation_p.L593M|DLGAP1_uc010dkn.3_Missense_Mutation_p.L301M|DLGAP1_uc002kme.2_Missense_Mutation_p.L291M|DLGAP1_uc010wyw.2_Missense_Mutation_p.L299M|DLGAP1_uc010wyx.2_Missense_Mutation_p.L315M|DLGAP1_uc010wyy.2_Missense_Mutation_p.L277M|DLGAP1_uc002kmg.3_Missense_Mutation_p.L291M	NM_004746	NP_004737	O14490	DLGP1_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 1 (DLGAP1), transcript variant 1, mRNA.	593					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				ATACTGTCCAGGCTCTCGGTG	0.577000														26			31		1.39806e-14	1.75303e-14	1	1	0
TBC1D12	23232	broad.mit.edu	37	10	96234514	96234514	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:96234514T>C	uc001kjr.2	+	2	1370	c.1185T>C	c.(1183-1185)acT>acC	p.T395T		NM_015188	NP_056003	O60347	TBC12_HUMAN	Homo sapiens TBC1 domain family, member 12 (TBC1D12), mRNA.	395						intracellular	Rab GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	20		Colorectal(252;0.0429)				TTTCTACCACTGCCTTGATTC	0.353000														66			5		0	0	1	0	0
CAD	790	broad.mit.edu	37	2	27454415	27454415	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:27454415C>T	uc002rji.3	+	15	2529	c.2367C>T	c.(2365-2367)ggC>ggT	p.G789G	CAD_uc010eyw.3_Silent_p.G726G	NM_004341	NP_004332	P27708	PYR1_HUMAN	Homo sapiens carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase (CAD), mRNA.	789	CPSase (Carbamoyl-phosphate synthase).|CPSase A.				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	ATP binding|aspartate binding|aspartate carbamoyltransferase activity|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	ACTGTGTGGGCTTTGATCACA	0.532000														42			4		0	0	1	0	0
SQRDL	58472	broad.mit.edu	37	15	45981348	45981348	+	Nonsense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:45981348G>T	uc001zvu.3	+	9	1421	c.1228G>T	c.(1228-1230)Gag>Tag	p.E410*	SQRDL_uc001zvv.3_Nonsense_Mutation_p.E410*	NM_021199	NP_067022	Q9Y6N5	SQRD_HUMAN	Homo sapiens sulfide quinone reductase-like (yeast) (SQRDL), nuclear gene encoding mitochondrial protein, mRNA.	410							oxidoreductase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	11		Lung NSC(122;0.000117)|all_lung(180;0.000737)|Melanoma(134;0.0417)		all cancers(107;5.89e-18)|GBM - Glioblastoma multiforme(94;1.21e-06)|COAD - Colon adenocarcinoma(120;0.17)|Colorectal(133;0.188)		TCAAAGCAAAGAGCGCCTTTC	0.473000														60			37		1.836e-18	2.35332e-18	1	1	0
CNTNAP2	26047	broad.mit.edu	37	7	148080782	148080782	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:148080782C>A	uc003weu.2	+	21	4033	c.3517C>A	c.(3517-3519)Cca>Aca	p.P1173T	CNTNAP2_uc003wev.2_5'UTR	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	1173	Laminin G-like 4.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			ATACAACACCCCAGGATTCAC	0.468000										HNSCC(39;0.1)				60			28		9.39395e-14	1.17142e-13	1	1	0
PARD3	56288	broad.mit.edu	37	10	34666916	34666916	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:34666916C>A	uc010qej.2	-	9	1848	c.1518G>T	c.(1516-1518)aaG>aaT	p.K506N	PARD3_uc010qep.2_Missense_Mutation_p.K462N|PARD3_uc010qeq.2_Missense_Mutation_p.K462N|PARD3_uc010qek.2_Missense_Mutation_p.K506N|PARD3_uc010qel.2_Missense_Mutation_p.K506N|PARD3_uc010qem.2_Missense_Mutation_p.K506N|PARD3_uc010qen.2_Missense_Mutation_p.K506N|PARD3_uc010qeo.2_Missense_Mutation_p.K506N|PARD3_uc001ixo.2_Missense_Mutation_p.K236N|PARD3_uc001ixr.2_Missense_Mutation_p.K506N|PARD3_uc001ixq.2_Missense_Mutation_p.K506N|PARD3_uc001ixp.2_Missense_Mutation_p.K506N|PARD3_uc001ixt.1_Missense_Mutation_p.K327N|PARD3_uc001ixu.2_Missense_Mutation_p.K462N|PARD3_uc001ixs.1_Missense_Mutation_p.K159N	NM_019619	NP_062565	Q8TEW0	PARD3_HUMAN	Homo sapiens par-3 partitioning defective 3 homolog (C. elegans) (PARD3), transcript variant 1, mRNA.	506	PDZ 2.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				TGTCTCCTGCCTTAAGTCGGC	0.468000														68			55		1.54886e-18	1.9875e-18	1	1	0
SMARCA4	6597	broad.mit.edu	37	19	11134247	11134247	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:11134247G>A	uc010dxp.3	+	20	3273	c.2913G>A	c.(2911-2913)gtG>gtA	p.V971V	SMARCA4_uc010dxo.3_Silent_p.V971V|SMARCA4_uc002mqf.4_Silent_p.V971V|SMARCA4_uc002mqg.1_Silent_p.V971V|SMARCA4_uc010dxq.3_Silent_p.V971V|SMARCA4_uc010dxr.3_Silent_p.V971V|SMARCA4_uc002mqj.4_Silent_p.V971V|SMARCA4_uc010dxs.3_Silent_p.V971V|SMARCA4_uc010dxt.1_Silent_p.V191V|SMARCA4_uc002mqh.4_Silent_p.V94V|SMARCA4_uc002mqi.1_Silent_p.V174V	NM_001128844	NP_003063	P51532	SMCA4_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 (SMARCA4), transcript variant 2, mRNA.	971					chromatin remodeling|negative regulation of S phase of mitotic cell cycle|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex|WINAC complex|nBAF complex|npBAF complex|nuclear chromatin	ATP binding|DNA binding|DNA-dependent ATPase activity|androgen receptor binding|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				TCCACAAAGTGCTGCGGCCCT	0.567000			"""F, N, Mis"""		NSCLC									9			9		0	0	1	0	0
SCYL2	55681	broad.mit.edu	37	12	100732859	100732859	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:100732859C>A	uc001thn.3	+	17	2749	c.2699C>A	c.(2698-2700)cCt>cAt	p.P900H		NM_017988	NP_060458	Q6P3W7	SCYL2_HUMAN	Homo sapiens SCY1-like 2 (S. cerevisiae) (SCYL2), mRNA.	900	Necessary for interaction with AP2 complex and clathrin, interaction with clathrin is necessary for its targeting to the TGN and endosomal membranes.				endosome to lysosome transport|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of clathrin-mediated endocytosis|positive regulation of receptor internalization	Golgi apparatus|clathrin-coated vesicle|endosome membrane|perinuclear region of cytoplasm	ATP binding|protein kinase activity|receptor binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1)	41						CAGGGTAATCCTTTCTTTAAC	0.428000														84			58		6.3091e-27	8.28064e-27	1	1	0
MARCH7	64844	broad.mit.edu	37	2	160599690	160599690	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:160599690G>T	uc002uax.3	+	2	394	c.272G>T	c.(271-273)aGa>aTa	p.R91I	MARCH7_uc010foq.3_Missense_Mutation_p.R91I|MARCH7_uc010zcn.2_Missense_Mutation_p.R91I|MARCH7_uc010for.3_Missense_Mutation_p.R53I	NM_022826	NP_073737	Q9H992	MARH7_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 7 (MARCH7), mRNA.	91	Ser-rich.						ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2)	18						GATTCAAAAAGACCTAAACTT	0.408000														78			10		9.70103e-10	1.16071e-09	1	1	0
ACACB	32	broad.mit.edu	37	12	109644624	109644624	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:109644624G>A	uc001tob.3	+	19	3142	c.3023G>A	c.(3022-3024)aGt>aAt	p.S1008N	ACACB_uc001toc.3_Missense_Mutation_p.S1008N	NM_001093	NP_001084	O00763	ACACB_HUMAN	Homo sapiens acetyl-CoA carboxylase beta (ACACB), mRNA.	1008					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	Golgi apparatus|cytosol|endomembrane system|membrane	ATP binding|acetyl-CoA carboxylase activity|biotin carboxylase activity|metal ion binding|protein binding	p.M1007I(1)		NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	AACGTCATGAGTGGCTTTTGT	0.547000														57			34		0	0	1	0	0
ZP4	57829	broad.mit.edu	37	1	238050822	238050822	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:238050822G>T	uc001hym.3	-	4	880	c.593C>A	c.(592-594)gCt>gAt	p.A198D	LOC100130331_uc010pyc.2_Intron	NM_021186	NP_067009	Q12836	ZP4_HUMAN	Homo sapiens zona pellucida glycoprotein 4 (ZP4), mRNA.	198	ZP.				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of T cell proliferation|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity			breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			CCGAGACACAGCAATAGAGAA	0.537000														34			9		1.76689e-08	2.07166e-08	1	1	0
PNMA5	114824	broad.mit.edu	37	X	152159087	152159087	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:152159087G>A	uc022chn.1	-	0	1056	c.1056C>T	c.(1054-1056)tcC>tcT	p.S352S	PNMA5_uc010ntx.3_Silent_p.S352S|PNMA5_uc010ntw.3_Silent_p.S352S|PNMA5_uc004fgy.4_Silent_p.S352S|PNMA5_uc022chm.1_Silent_p.S352S	NM_052926	NP_443158	Q96PV4	PNMA5_HUMAN	Homo sapiens paraneoplastic antigen like 5 (PNMA5), transcript variant 3, mRNA.	352					apoptosis					breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					CCTGTCTACCGGAGGCCCCCC	0.562000														43			33		0	0	1	0	0
CCDC142	84865	broad.mit.edu	37	2	74709259	74709259	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:74709259G>T	uc002slr.3	-	0	1099	c.706C>A	c.(706-708)Ctc>Atc	p.L236I	TTC31_uc002sls.2_5'Flank|TTC31_uc002slt.2_5'Flank|TTC31_uc002slu.2_5'Flank|CCDC142_uc002slo.3_Non-coding_Transcript|CCDC142_uc002slq.3_Missense_Mutation_p.L236I|CCDC142_uc002slp.2_Missense_Mutation_p.L236I	NM_032779	NP_116168	Q17RM4	CC142_HUMAN	Homo sapiens coiled-coil domain containing 142 (CCDC142), mRNA.	236										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	16						AAGAGGCGGAGCACACGGGAC	0.667000														41			6		0.0215528	0.0220531	1	1	0
MBD5	55777	broad.mit.edu	37	2	149227755	149227755	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:149227755T>C	uc002twm.4	+	8	3240	c.2243T>C	c.(2242-2244)gTt>gCt	p.V748A	MBD5_uc010zbs.2_Non-coding_Transcript|MBD5_uc002twn.1_Missense_Mutation_p.V189A	NM_018328	NP_060798	Q9P267	MBD5_HUMAN	Homo sapiens methyl-CpG binding domain protein 5 (MBD5), mRNA.	748						chromosome|nucleus	DNA binding|chromatin binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		AACTCTAGTGTTCTTCAGAAC	0.473000														28			19		0	0	1	0	0
GIMAP8	155038	broad.mit.edu	37	7	150174255	150174255	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:150174255T>C	uc003whj.3	+	4	1715	c.1385T>C	c.(1384-1386)cTc>cCc	p.L462P		NM_175571	NP_783161	Q8ND71	GIMA8_HUMAN	Homo sapiens GTPase, IMAP family member 8 (GIMAP8), mRNA.	462						Golgi apparatus|endoplasmic reticulum|mitochondrion	GTP binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		CTGGGGAGCCTCGTCTTCACC	0.587000														83			8		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140787945	140787945	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140787945T>G	uc003lkj.2	+	0	176	c.176T>G	c.(175-177)cTg>cGg	p.L59R	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lki.1_Missense_Mutation_p.L59R	NM_018926	NP_061749	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 6 (PCDHGB6), transcript variant 1, mRNA.	57	Cadherin 1.				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)			CTCAGTGTCCTGGATGTGTCG	0.607000														51			7		0	0	1	0	0
MCAT	27349	broad.mit.edu	37	22	43529484	43529484	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:43529484C>T	uc003bdl.1	-	3	787	c.738G>A	c.(736-738)cgG>cgA	p.R246R	MCAT_uc003bdm.1_Missense_Mutation_p.V174I	NM_173467	NP_775738	Q8IVS2	FABD_HUMAN	Homo sapiens malonyl CoA:ACP acyltransferase (mitochondrial) (MCAT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	246					fatty acid biosynthetic process	mitochondrion	[acyl-carrier-protein] S-malonyltransferase activity|binding			breast(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(1)	11		Ovarian(80;0.0694)				TCTGGAGAAACCGTAGAGCCT	0.552000														10			5		0	0	1	0	0
TMCC2	9911	broad.mit.edu	37	1	205238741	205238741	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:205238741C>A	uc021pia.1	+	2	2066	c.1411C>A	c.(1411-1413)Ccc>Acc	p.P471T	TMCC2_uc010prf.2_Missense_Mutation_p.P393T|TMCC2_uc001hca.3_Missense_Mutation_p.P246T|TMCC2_uc001hcb.2_Missense_Mutation_p.P231T|TMCC2_uc001hcc.2_Missense_Mutation_p.P92T|TMCC2_uc001hcd.3_Missense_Mutation_p.P238T	NM_014858	NP_001229854	O75069	TMCC2_HUMAN	Homo sapiens transmembrane and coiled-coil domain family 2 (TMCC2), transcript variant 1, mRNA.	471						integral to membrane	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1)	20	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			CGTCTCCAGCCCCAAGTATGG	0.692000														63			5		0.0215528	0.0220531	1	1	0
AKR1E2	83592	broad.mit.edu	37	10	4884652	4884652	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:4884652A>G	uc001ihi.3	+	7	908	c.793A>G	c.(793-795)Atc>Gtc	p.I265V	AKR1E2_uc010qam.1_Missense_Mutation_p.I169V|AKR1E2_uc001ihh.1_Missense_Mutation_p.I208V|AKR1E2_uc001ihj.3_Non-coding_Transcript|AKR1E2_uc001ihk.3_Missense_Mutation_p.I208V|AKR1E2_uc009xhw.3_Missense_Mutation_p.I167V	NM_001040177	NP_001035267	Q96JD6	AKCL2_HUMAN	Homo sapiens aldo-keto reductase family 1, member E2 (AKR1E2), mRNA.	265						cytoplasm	1,5-anhydro-D-fructose reductase activity	p.V264V(1)		NS(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)	15						TGTGATAGTGATCCCCGGATC	0.393000														69			47		0	0	1	0	0
RABL5	64792	broad.mit.edu	37	7	100959652	100959652	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100959652G>A	uc003uyl.3	-	3	481	c.378C>T	c.(376-378)ggC>ggT	p.G126G	RABL5_uc011kkk.2_Silent_p.G49G|RABL5_uc011kkl.2_Silent_p.G49G|RABL5_uc003uym.3_Silent_p.G96G|RABL5_uc010lhw.3_Non-coding_Transcript|RABL5_uc011kkm.2_Silent_p.G126G	NM_022777	NP_001124294	Q9H7X7	RABL5_HUMAN	Homo sapiens RAB, member RAS oncogene family-like 5 (RABL5), transcript variant 1, mRNA.	126							GTP binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	7	Lung NSC(181;0.215)					CATCTCCAGAGCCTGGTTTGT	0.448000														50			65		0	0	1	0	0
MRPS2	51116	broad.mit.edu	37	9	138395910	138395910	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:138395910G>T	uc004cfv.4	+	3	896	c.822G>T	c.(820-822)caG>caT	p.Q274H	BC015688_uc004cfy.3_Intron	NM_016034	NP_057118	Q9Y399	RT02_HUMAN	Homo sapiens mitochondrial ribosomal protein S2 (MRPS2), nuclear gene encoding mitochondrial protein, mRNA.	274					translation	mitochondrion|small ribosomal subunit	structural constituent of ribosome			large_intestine(2)|lung(1)|prostate(2)|urinary_tract(1)	6				OV - Ovarian serous cystadenocarcinoma(145;1.46e-53)|Epithelial(140;2.04e-47)|all cancers(34;1.23e-42)		ATCGCCTGCAGGGCCAGAAGG	0.637000														11			12		4.93089e-13	6.11992e-13	1	1	0
OR52E6	390078	broad.mit.edu	37	11	5862816	5862816	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:5862816G>T	uc010qzq.2	-	0	312	c.312C>A	c.(310-312)ttC>ttA	p.F104L	TRIM5_uc001mbq.1_Intron	NM_001005167	NP_001005167	Q96RD3	O52E6_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily E, member 6 (OR52E6), mRNA.	104					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L104I(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AATGGATGAAGAACATCTGAG	0.458000														190			10		0.000442599	0.000473562	1	1	0
NOTCH2	4853	broad.mit.edu	37	1	120491630	120491630	+	Splice_Site	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:120491630C>A	uc001eik.3	-	16	2896	c.2599_splice	c.e16+1	p.G867_splice	NOTCH2_uc001eil.3_Splice_Site_p.G867_splice	NM_024408	NP_077719	Q04721	NOTC2_HUMAN	Homo sapiens notch 2 (NOTCH2), transcript variant 1, mRNA.	867	EGF-like 22.				Notch receptor processing|Notch signaling pathway|anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATGTTCTTACCTTGCCAGCCA	0.458000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome		OREG0013733	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		172			19		1.87028e-06	2.11959e-06	1	1	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19444958	19444958	+	RNA	SNP	A	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:19444958A>T	uc010tcj.1	-	0		c.1152T>A								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		TAACAAGGAAATCACTCCACT	0.328000														17			3		0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126242732	126242732	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:126242732G>T	uc003ifj.4	+	0	5166	c.5166G>T	c.(5164-5166)caG>caT	p.Q1722H		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	1722	Cadherin 16.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CCAGAACACAGAGAGCAGAGG	0.358000														60			5		0.00116845	0.00123466	1	1	0
SUMO3	6612	broad.mit.edu	37	21	46233927	46233927	+	Silent	SNP	C	T	T	rs11545092		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:46233927C>T	uc002zfz.1	-	1	275	c.114G>A	c.(112-114)ccG>ccA	p.P38P	SUMO3_uc011afi.1_Silent_p.P38P	NM_006936	NP_008867	P55854	SUMO3_HUMAN	Homo sapiens SMT3 suppressor of mif two 3 homolog 3 (S. cerevisiae) (SUMO3), mRNA.	38	Ubiquitin-like.		P -> S (in dbSNP:rs1051311).		protein sumoylation	cytoplasm|kinetochore	protein binding			prostate(1)	1				Colorectal(79;0.058)		GCTTGCTCAGCGGCGTGTGCC	0.622000														129			8		0	0	1	0	0
DSEL	92126	broad.mit.edu	37	18	65181680	65181680	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:65181680G>T	uc002lke.1	-	1	1420	c.196C>A	c.(196-198)Ctg>Atg	p.L66M	LOC643542_uc021ulh.1_5'Flank|DSEL_uc021ulg.1_Missense_Mutation_p.L66M	NM_032160	NP_115536	Q8IZU8	DSEL_HUMAN	Homo sapiens dermatan sulfate epimerase-like (DSEL), mRNA.	56						integral to membrane	isomerase activity|sulfotransferase activity			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				CTTTTCTTCAGCTTTTGGTTG	0.378000														64			38		1.30015e-28	1.71153e-28	1	1	0
RASGRF1	5923	broad.mit.edu	37	15	79317730	79317730	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:79317730G>A	uc002beq.3	-	9	1843	c.1468C>T	c.(1468-1470)Cga>Tga	p.R490*	RASGRF1_uc002bep.3_Nonsense_Mutation_p.R490*|RASGRF1_uc010blm.1_Nonsense_Mutation_p.R412*|RASGRF1_uc002ber.4_Nonsense_Mutation_p.R490*	NM_002891	NP_002882	Q13972	RGRF1_HUMAN	Homo sapiens Ras protein-specific guanine nucleotide-releasing factor 1 (RASGRF1), transcript variant 1, mRNA.	490	PH 2.				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						AAGCACTGTCGCTCGCCCTCT	0.557000														68			47		0	0	1	0	0
IGFBPL1	347252	broad.mit.edu	37	9	38413250	38413250	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:38413250G>T	uc004aba.3	-	2	694	c.671C>A	c.(670-672)gCc>gAc	p.A224D		NM_001007563	NP_001007564	Q8WX77	IBPL1_HUMAN	Homo sapiens insulin-like growth factor binding protein-like 1 (IGFBPL1), mRNA.	224	Ig-like C2-type.				regulation of cell growth	extracellular region	insulin-like growth factor binding			endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	4				GBM - Glioblastoma multiforme(29;0.0437)|Lung(182;0.116)		CCAGGCCGTGGCCTCATGGTC	0.473000														33			22		4.26978e-12	5.24748e-12	1	1	0
TMTC2	160335	broad.mit.edu	37	12	83290354	83290354	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:83290354C>T	uc001szt.3	+	2	1844	c.1412C>T	c.(1411-1413)gCg>gTg	p.A471V	TMTC2_uc001szr.1_Missense_Mutation_p.A471V|TMTC2_uc001szs.1_Missense_Mutation_p.A471V|TMTC2_uc010suk.2_Missense_Mutation_p.A226V	NM_152588	NP_689801	Q8N394	TMTC2_HUMAN	Homo sapiens transmembrane and tetratricopeptide repeat containing 2 (TMTC2), mRNA.	471						endoplasmic reticulum|integral to membrane	binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						CTCAAGACTGCGATCAGGAAT	0.388000														36			29		0	0	1	0	0
SLC7A13	157724	broad.mit.edu	37	8	87242328	87242328	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:87242328G>A	uc003ydq.1	-	0	277	c.179C>T	c.(178-180)gCc>gTc	p.A60V	SLC7A13_uc003ydr.1_Missense_Mutation_p.A60V	NM_138817	NP_620172	Q8TCU3	S7A13_HUMAN	Homo sapiens solute carrier family 7 (anionic amino acid transporter), member 13 (SLC7A13), mRNA.	60						integral to membrane	amino acid transmembrane transporter activity	p.L59L(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						TGATGTCATGGCCAGTATGGC	0.483000														50			6		0	0	1	0	0
AMY2B	280	broad.mit.edu	37	1	104115752	104115752	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:104115752G>T	uc010ouo.2	+	14	2087	c.383G>T	c.(382-384)aGt>aTt	p.S128I	AMY2B_uc001duq.3_Missense_Mutation_p.S128I|AMY2B_uc001dur.3_Missense_Mutation_p.S128I|AMY2B_uc001dus.1_5'Flank	NM_020978	NP_066188	P19961	AMY2B_HUMAN	Homo sapiens amylase, alpha 2B (pancreatic) (AMY2B), mRNA.	128					carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding			breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		GGAACAAGCAGTACCTGTGGA	0.403000														487			146		8.96501e-55	1.19564e-54	1	1	0
NGLY1	55768	broad.mit.edu	37	3	25773921	25773921	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:25773921A>G	uc003cdl.3	-	8	1422	c.1314T>C	c.(1312-1314)atT>atC	p.I438I	NGLY1_uc010hfg.3_Silent_p.I420I|NGLY1_uc003cdm.3_Silent_p.I438I|NGLY1_uc011awo.2_Silent_p.I396I|NGLY1_uc003cdk.3_Non-coding_Transcript	NM_018297	NP_060767	Q96IV0	NGLY1_HUMAN	Homo sapiens N-glycanase 1 (NGLY1), transcript variant 1, mRNA.	438					glycoprotein catabolic process	cytoplasm	metal ion binding|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)	18						CAAGCTCCACAATTATCCTCT	0.398000														61			6		0	0	1	0	0
GFAP	2670	broad.mit.edu	37	17	42992534	42992534	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:42992534C>A	uc021tyh.1	-	0	387	c.321G>T	c.(319-321)aaG>aaT	p.K107N	GFAP_uc002ihq.3_Missense_Mutation_p.K107N|GFAP_uc002ihr.3_Missense_Mutation_p.K107N|GFAP_uc010wjg.2_Non-coding_Transcript	NM_001242376	NP_001229305	P14136	GFAP_HUMAN	Homo sapiens glial fibrillary acidic protein (GFAP), transcript variant 3, mRNA.	107	Linker 1.|Rod.					cytoplasm|intermediate filament	structural constituent of cytoskeleton	p.A106S(2)		endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23		Prostate(33;0.0959)				TGGTGGGCTCCTTGGCCCGCA	0.617000														46			17		0.00498961	0.0051929	1	1	0
ZNF79	7633	broad.mit.edu	37	9	130207444	130207444	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:130207444G>A	uc004bqw.4	+	4	1879	c.1465G>A	c.(1465-1467)Gtt>Att	p.V489I	ZNF79_uc011maf.2_Missense_Mutation_p.V465I|ZNF79_uc011mag.2_Missense_Mutation_p.V465I	NM_007135	NP_009066	Q15937	ZNF79_HUMAN	Homo sapiens zinc finger protein 79 (ZNF79), mRNA.	489					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2)	28						CTCTGCCTTCGTTAGACATCA	0.557000														88			47		0	0	1	0	0
NCOR2	9612	broad.mit.edu	37	12	124812048	124812048	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:124812048C>T	uc021rga.1	-	44	7228	c.7111G>A	c.(7111-7113)Gct>Act	p.A2371T	NCOR2_uc021rgb.1_Intron|NCOR2_uc010tbb.2_Missense_Mutation_p.A2364T|NCOR2_uc010tbc.2_Intron|NCOR2_uc021rgc.1_Missense_Mutation_p.A2354T|NCOR2_uc010tax.2_Intron	NM_006312	NP_006303	Q9Y618	NCOR2_HUMAN	Homo sapiens nuclear receptor corepressor 2 (NCOR2), transcript variant 1, mRNA.	2375					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|Notch binding|histone deacetylase binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GGGTTAAAAGCATTGGCGCTG	0.577000														23			14		0	0	1	0	0
CERKL	375298	broad.mit.edu	37	2	182412565	182412565	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:182412565C>T	uc002unx.3	-	9	1322	c.1221G>A	c.(1219-1221)caG>caA	p.Q407Q	CERKL_uc010frk.3_Intron|CERKL_uc002uny.3_Silent_p.Q381Q|CERKL_uc010zfm.2_Silent_p.Q363Q|CERKL_uc002unz.3_Silent_p.Q129Q|CERKL_uc002uoa.3_Silent_p.Q312Q|CERKL_uc002uob.3_Silent_p.Q129Q|CERKL_uc002uoc.3_Silent_p.Q268Q|CERKL_uc021vth.1_Silent_p.Q176Q|CERKL_uc021vti.1_Silent_p.Q129Q|CERKL_uc021vtj.1_Silent_p.Q84Q|CERKL_uc021vtk.1_Silent_p.Q129Q|CERKL_uc021vtl.1_Silent_p.Q84Q|CERKL_uc021vtm.1_Silent_p.Q176Q|CERKL_uc002uod.2_Silent_p.Q176Q|CERKL_uc002uoe.3_3'UTR|CERKL_uc002unw.3_5'UTR	NM_001030311	NP_001025482	Q49MI3	CERKL_HUMAN	Homo sapiens ceramide kinase-like (CERKL), transcript variant 2, mRNA.	407					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis	Golgi apparatus|endoplasmic reticulum|nucleolus	diacylglycerol kinase activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3)	32			OV - Ovarian serous cystadenocarcinoma(117;0.088)			TGGGAGATCCCTGTGCCCTCC	0.393000														121			75		0	0	1	0	0
SGSM3	27352	broad.mit.edu	37	22	40805486	40805486	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:40805486C>T	uc003ayu.1	+	20	2338	c.2129C>T	c.(2128-2130)gCc>gTc	p.A710V	SGSM3_uc011aot.1_Missense_Mutation_p.A621V	NM_015705	NP_056520	Q96HU1	SGSM3_HUMAN	Homo sapiens small G protein signaling modulator 3 (SGSM3), mRNA.	710	RUN.				Rap protein signal transduction|cell cycle arrest	cytoplasm	Rab GTPase activator activity|Rab GTPase binding			cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)	19						TGCTGCTTTGCCTTCAGCCTC	0.627000														59			38		0	0	1	0	0
ARHGEF11	9826	broad.mit.edu	37	1	156914914	156914914	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:156914914G>A	uc001fqo.3	-	28	3808	c.2768C>T	c.(2767-2769)gCg>gTg	p.A923V	ARHGEF11_uc010phu.2_Missense_Mutation_p.A339V|ARHGEF11_uc001fqn.3_Missense_Mutation_p.A963V	NM_014784	NP_055599	O15085	ARHGB_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 11 (ARHGEF11), transcript variant 1, mRNA.	923	DH.				G-protein coupled receptor protein signaling pathway|Rho protein signal transduction|actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of Rho protein signal transduction|regulation of cell growth|striated muscle contraction	Golgi apparatus|cytosol|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TTGTTTTACCGCTTCATTCAC	0.577000														100			53		0	0	1	0	0
SND1	27044	broad.mit.edu	37	7	127569379	127569379	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:127569379G>A	uc003vmi.3	+	14	1892	c.1666G>A	c.(1666-1668)Gca>Aca	p.A556T	SND1_uc010lle.3_Missense_Mutation_p.A209T	NM_014390	NP_055205	Q7KZF4	SND1_HUMAN	Homo sapiens staphylococcal nuclease and tudor domain containing 1 (SND1), mRNA.	556	TNase-like 4.				gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	RNA-induced silencing complex|melanosome|nucleus	nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity			central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						CTTCTTGCTTGCAGGTAAGTC	0.483000														107			111		0	0	1	0	0
SLC16A2	6567	broad.mit.edu	37	X	73740957	73740957	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:73740957G>A	uc004ebt.2	+	1	951	c.785G>A	c.(784-786)aGc>aAc	p.S262N		NM_006517	NP_006508	P36021	MOT8_HUMAN	Homo sapiens solute carrier family 16, member 2 (monocarboxylic acid transporter 8) (SLC16A2), mRNA.	188						integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	21					Pyruvic acid(DB00119)	CTCCATACCAGCTCCTTCACC	0.502000														38			21		0	0	1	0	0
ACIN1	22985	broad.mit.edu	37	14	23549097	23549097	+	Nonsense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:23549097C>A	uc001wit.4	-	5	1949	c.1621G>T	c.(1621-1623)Gga>Tga	p.G541*	ACIN1_uc001wis.4_Nonsense_Mutation_p.G223*|ACIN1_uc010akg.3_Nonsense_Mutation_p.G541*|ACIN1_uc010tnj.2_Nonsense_Mutation_p.G501*	NM_014977	NP_055792	Q9UKV3	ACINU_HUMAN	Homo sapiens apoptotic chromatin condensation inducer 1 (ACIN1), transcript variant 1, mRNA.	541					apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		TCAGTGATTCCTTTGGCCAGT	0.483000														111			7		0.0293803	0.0299714	1	1	0
MND1	84057	broad.mit.edu	37	4	154318427	154318427	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:154318427G>A	uc003ink.2	+	5	497	c.408G>A	c.(406-408)caG>caA	p.Q136Q	MND1_uc021xtj.1_Non-coding_Transcript|MND1_uc021xtk.1_Intron	NM_032117	NP_115493	Q9BWT6	MND1_HUMAN	Homo sapiens meiotic nuclear divisions 1 homolog (S. cerevisiae) (MND1), transcript variant 1, mRNA.	136					DNA recombination|meiosis	nucleus	DNA binding			large_intestine(2)|lung(1)	3	all_hematologic(180;0.093)					AAAGGGAACAGCTAAAGGCAG	0.373000														7			10		0	0	1	0	0
NUMA1	4926	broad.mit.edu	37	11	71726774	71726774	+	Missense_Mutation	SNP	C	T	T	rs147334088		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:71726774C>T	uc001orl.1	-	14	1947	c.1775G>A	c.(1774-1776)cGa>cAa	p.R592Q	NUMA1_uc009ysw.1_Missense_Mutation_p.R155Q|NUMA1_uc001ork.1_Intron|NUMA1_uc001orm.1_Missense_Mutation_p.R592Q|NUMA1_uc001orn.2_Missense_Mutation_p.R155Q|NUMA1_uc009ysx.1_Missense_Mutation_p.R592Q|NUMA1_uc001oro.1_Missense_Mutation_p.R592Q	NM_006185	NP_006176	Q14980	NUMA1_HUMAN	Homo sapiens nuclear mitotic apparatus protein 1 (NUMA1), mRNA.	592					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						GGAGGCCTCTCGCTCCTCTGC	0.597000			T	RARA	APL						OREG0021187	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		73			6		0	0	1	0	0
BRD3	8019	broad.mit.edu	37	9	136906967	136906967	+	Missense_Mutation	SNP	C	T	T	rs56017928	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:136906967C>T	uc004cew.3	-	7	1510	c.1322G>A	c.(1321-1323)cGt>cAt	p.R441H	BRD3_uc004cex.2_Missense_Mutation_p.R441H	NM_007371	NP_031397	Q15059	BRD3_HUMAN	Homo sapiens bromodomain containing 3 (BRD3), mRNA.	441			R -> H (in dbSNP:rs56017928).			nucleus	protein binding		BRD3/C15orf55(3)	kidney(1)|skin(1)|stomach(4)	6				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		CTCACTGCTACGGCTGCTCTC	0.672000			T	C15orf55	lethal midline carcinoma of young people									18			5		0	0	1	0	0
SOGA3	387104	broad.mit.edu	37	6	127796864	127796864	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:127796864C>T	uc003qbd.3	-	5	3172	c.2307G>A	c.(2305-2307)ccG>ccA	p.P769P	KIAA0408_uc003qbc.3_5'Flank	NM_001012279	NP_001012279	Q5TF21	CF174_HUMAN	Homo sapiens chromosome 6 open reading frame 174 (C6orf174), mRNA.	769						integral to membrane											GCTTGCGGTGCGGAGGCCGCG	0.731000														21			37		0	0	1	0	0
ABCC1	4363	broad.mit.edu	37	16	16215931	16215931	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:16215931G>A	uc010bvi.3	+	23	3665	c.3490G>A	c.(3490-3492)Gtc>Atc	p.V1164I	ABCC1_uc010bvj.3_Missense_Mutation_p.V1105I|ABCC1_uc010bvk.3_Missense_Mutation_p.V1108I|ABCC1_uc010bvl.3_Missense_Mutation_p.V1164I|ABCC1_uc010bvm.3_Missense_Mutation_p.V1049I|ABCC1_uc002del.4_Missense_Mutation_p.V1058I|ABCC1_uc021tds.1_Non-coding_Transcript|ABCC1_uc021tdt.1_Missense_Mutation_p.V130I	NM_004996	NP_004987	P33527	MRP1_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 1 (ABCC1), transcript variant 1, mRNA.	1164	ABC transmembrane type-1 2.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	GGGGGTCAGCGTCATTCGAGC	0.602000														28			22		0	0	1	0	0
MIS18BP1	55320	broad.mit.edu	37	14	45687570	45687570	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:45687570C>A	uc001wwf.3	-	11	3216	c.2757G>T	c.(2755-2757)caG>caT	p.Q919H		NM_018353	NP_060823	Q6P0N0	M18BP_HUMAN	Homo sapiens MIS18 binding protein 1 (MIS18BP1), mRNA.	919	SANT.				CenH3-containing nucleosome assembly at centromere|cell division|mitosis	chromosome, centromeric region|nucleoplasm	DNA binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						TGTATTTCCTCTGGCATTCTT	0.453000														100			9		2.17888e-05	2.40634e-05	1	1	0
SGK223	157285	broad.mit.edu	37	8	8175940	8175940	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:8175940G>A	uc003wsh.4	-	4	3945	c.3945C>T	c.(3943-3945)ggC>ggT	p.G1315G		NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN	Homo sapiens homolog of rat pragma of Rnd2 (SGK223), mRNA.	1315	Protein kinase.						ATP binding|non-membrane spanning protein tyrosine kinase activity										GCTTGGCCTCGCCGATGCGGA	0.711000														29			23		0	0	1	0	0
CADPS	8618	broad.mit.edu	37	3	62484908	62484908	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:62484908G>A	uc003dll.2	-	17	2995	c.2635C>T	c.(2635-2637)Ctt>Ttt	p.L879F	CADPS_uc003dlk.1_Missense_Mutation_p.L383F|CADPS_uc003dlm.2_Missense_Mutation_p.L896F|CADPS_uc003dln.2_Missense_Mutation_p.L856F|CADPS_uc021wzv.1_Missense_Mutation_p.L926F	NM_003716	NP_003707	Q9ULU8	CAPS1_HUMAN	Homo sapiens Ca++-dependent secretion activator (CADPS), transcript variant 1, mRNA.	879	Interaction with DRD2.				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		GTATCTTCAAGCTTTTTGGCA	0.428000														25			21		0	0	1	0	0
AKAP6	9472	broad.mit.edu	37	14	33293146	33293146	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:33293146C>T	uc001wrq.3	+	12	6297	c.6127C>T	c.(6127-6129)Cca>Tca	p.P2043S		NM_004274	NP_004265	Q13023	AKAP6_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 6 (AKAP6), mRNA.	2043					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)		CAACTGTGAGCCAGATGTTTT	0.408000														32			24		0	0	1	0	0
ALAD	210	broad.mit.edu	37	9	116150607	116150607	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:116150607C>A	uc011lxf.2	-	11	1168	c.966G>T	c.(964-966)caG>caT	p.Q322H	ALAD_uc011lxe.2_Missense_Mutation_p.Q305H|ALAD_uc004bhl.4_Missense_Mutation_p.Q351H	NM_000031	NP_000022	P13716	HEM2_HUMAN	Homo sapiens aminolevulinate dehydratase (ALAD), mRNA.	322					heme biosynthetic process|protein homooligomerization	cytosol	identical protein binding|lead ion binding|porphobilinogen synthase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|stomach(1)	9					Aminolevulinic acid(DB00855)	ACTGCAGCAGCTGCGGTGTGT	0.532000														63			9		1.08611e-07	1.25606e-07	1	1	0
KIAA0913	23053	broad.mit.edu	37	10	75549186	75549186	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:75549186C>A	uc001jvj.3	+	3	774	c.519C>A	c.(517-519)aaC>aaA	p.N173K	KIAA0913_uc001jve.3_Missense_Mutation_p.N173K|KIAA0913_uc009xrl.3_Missense_Mutation_p.N173K|KIAA0913_uc001jvf.3_Missense_Mutation_p.N173K|KIAA0913_uc001jvh.3_5'Flank|KIAA0913_uc001jvi.3_5'Flank|KIAA0913_uc010qkr.2_5'Flank	NM_001242488	NP_001229417	A7E2V4	K0913_HUMAN	Homo sapiens KIAA0913 (KIAA0913), transcript variant 3, mRNA.	173							zinc ion binding			breast(3)|cervix(1)|endometrium(6)|kidney(3)|lung(6)	19	Prostate(51;0.0112)					GGGCCTACAACGTGGCTGTGA	0.607000														12			3		1	1	1	1	0
WDR16	146845	broad.mit.edu	37	17	9536300	9536300	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:9536300G>A	uc010coc.3	+	10	1529	c.1300G>A	c.(1300-1302)Gcc>Acc	p.A434T	WDR16_uc002gly.3_Missense_Mutation_p.A424T|WDR16_uc002glz.3_Missense_Mutation_p.A356T			Q8N1V2	WDR16_HUMAN	Homo sapiens WD repeat domain 16 (WDR16), transcript variant 2, mRNA.	424						cytoplasm|intracellular membrane-bounded organelle	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						CACCGCCATCGCCACCACCAG	0.512000														50			5		0	0	1	0	0
GPR1	2825	broad.mit.edu	37	2	207041404	207041404	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:207041404T>C	uc021vvl.1	-	0	568	c.568A>G	c.(568-570)Aat>Gat	p.N190D	GPR1_uc002vbl.4_Missense_Mutation_p.N190D|GPR1_uc010fue.3_Missense_Mutation_p.N190D|GPR1_uc010fuf.3_Missense_Mutation_p.N190D	NM_005279	NP_005270	P46091	GPR1_HUMAN	Homo sapiens G protein-coupled receptor 1 (GPR1), transcript variant 1, mRNA.	190						integral to plasma membrane	G-protein coupled receptor activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	18		Lung NSC(271;7.93e-06)|Renal(323;0.000147)|Hepatocellular(293;0.000888)		UCEC - Uterine corpus endometrioid carcinoma (47;0.000241)|Epithelial(149;1.91e-37)|STAD - Stomach adenocarcinoma(1183;0.00178)|Lung(261;0.111)|LUSC - Lung squamous cell carcinoma(261;0.184)		TTCTGAAAATTGTTATAGCAA	0.418000														33			34		0	0	1	0	0
TRAPPC10	7109	broad.mit.edu	37	21	45518355	45518355	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:45518355G>A	uc002zea.3	+	20	3455	c.3286G>A	c.(3286-3288)Gat>Aat	p.D1096N	TRAPPC10_uc010gpo.3_Missense_Mutation_p.D807N|TRAPPC10_uc011afa.2_Missense_Mutation_p.D474N|TRAPPC10_uc011afb.1_Missense_Mutation_p.D201N	NM_003274	NP_003265	P48553	TPC10_HUMAN	Homo sapiens trafficking protein particle complex 10 (TRAPPC10), mRNA.	1096					vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						CTTGGAGGTGGATAAAGATGA	0.512000														73			47		0	0	1	0	0
GALNT9	50614	broad.mit.edu	37	12	132688117	132688117	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:132688117C>T	uc001ukc.4	-	6	1312	c.1196G>A	c.(1195-1197)cGc>cAc	p.R399H	GALNT9_uc009zyr.3_Missense_Mutation_p.R173H|GALNT9_uc001ukb.3_Missense_Mutation_p.R256H|GALNT9_uc001uka.3_Missense_Mutation_p.R33H	NM_001122636	NP_001116108	Q9HCQ5	GALT9_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 9 (GalNAc-T9) (GALNT9), transcript variant A, mRNA.	399					protein O-linked glycosylation	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(1)|endometrium(1)|large_intestine(2)|lung(5)	9	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.49e-08)|Epithelial(86;3.55e-07)|all cancers(50;2.09e-05)		CTCGGCGGCGCGCAGGGCGTT	0.637000														31			25		0	0	1	0	0
ABCC3	8714	broad.mit.edu	37	17	48761033	48761033	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:48761033G>T	uc002isl.3	+	26	3950	c.3870G>T	c.(3868-3870)gaG>gaT	p.E1290D	ABCC3_uc002isn.3_Missense_Mutation_p.E44D	NM_003786	NP_003777	O15438	MRP3_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 3 (ABCC3), transcript variant 1, mRNA.	1290					bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	GGGAGGTGGAGTTCCGGAATT	0.662000														32			4		2.56e-06	2.88678e-06	1	1	0
ITGB1BP3	27231	broad.mit.edu	37	19	3942216	3942216	+	Missense_Mutation	SNP	G	A	A	rs148078582	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:3942216G>A	uc010xia.2	+	6	867	c.653G>A	c.(652-654)cGc>cAc	p.R218H	ITGB1BP3_uc002lyz.4_Missense_Mutation_p.R213H	NM_170678	NP_733778	Q9NPI5	NRK2_HUMAN	Homo sapiens integrin beta 1 binding protein 3 (ITGB1BP3), mRNA.	213					pyridine nucleotide biosynthetic process		ATP binding|metal ion binding|protein binding|ribosylnicotinamide kinase activity			central_nervous_system(1)|large_intestine(3)|lung(4)|skin(2)	10		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00463)|STAD - Stomach adenocarcinoma(1328;0.18)		GGACCCGGACGCGGATGCGGC	0.647000														13			9		0	0	1	0	0
CYP1B1	1545	broad.mit.edu	37	2	38301921	38301921	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:38301921A>G	uc002rqo.2	-	1	1013	c.611T>C	c.(610-612)gTc>gCc	p.V204A		NM_000104	NP_000095	Q16678	CP1B1_HUMAN	Homo sapiens cytochrome P450, family 1, subfamily B, polypeptide 1 (CYP1B1), mRNA.	204					visual perception|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	13		all_hematologic(82;0.21)			Estrone(DB00655)	GGCACTCATGACGTTGGCCAC	0.711000														4			2		0	0	1	0	0
TTLL6	284076	broad.mit.edu	37	17	46865317	46865317	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:46865317G>T	uc021tzm.1	-	10	1480	c.1445C>A	c.(1444-1446)aCt>aAt	p.T482N	TTLL6_uc002iob.3_Missense_Mutation_p.T175N|TTLL6_uc010dbi.3_Non-coding_Transcript|TTLL6_uc002ioc.3_Missense_Mutation_p.T235N|TTLL6_uc002iod.3_Missense_Mutation_p.T329N	NM_001130918	NP_001124390	Q8N841	TTLL6_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 6 (TTLL6), transcript variant 1, mRNA.	434						cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						ATACGTTTCAGTTTTCTTTAA	0.483000														131			77		2.1672e-28	2.85226e-28	1	1	0
OR5K2	402135	broad.mit.edu	37	3	98217292	98217292	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:98217292T>G	uc011bgx.2	+	0	768	c.768T>G	c.(766-768)ttT>ttG	p.F256L		NM_001004737	NP_001004737	Q8NHB8	OR5K2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily K, member 2 (OR5K2), mRNA.	256					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						GATCTATTTTTTTCCTATACA	0.333000														62			4		0	0	1	0	0
OR4X2	119764	broad.mit.edu	37	11	48267442	48267442	+	Missense_Mutation	SNP	G	A	A	rs137858399	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:48267442G>A	uc001ngs.1	+	0	787	c.787G>A	c.(787-789)Gtg>Atg	p.V263M		NM_001004727	NP_001004727	Q8NGF9	OR4X2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily X, member 2 (OR4X2), mRNA.	263					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						AGACAAGATGGTGGCTGTGTT	0.507000														46			29		0	0	1	0	0
abParts	0	broad.mit.edu	37	2	90060890	90060890	+	RNA	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:90060890G>T	uc010yts.2	+	21		c.2549G>T								Parts of antibodies, mostly variable regions.																		GGGTCCCCTCGAGGTTCAGTG	0.498000														52			38		2.26627e-22	2.94345e-22	1	1	0
ZNF664	144348	broad.mit.edu	37	12	124497044	124497044	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:124497044G>T	uc001ugb.3	+	4	1382	c.353G>T	c.(352-354)aGt>aTt	p.S118I	FAM101A_uc021rfy.1_Intron|ZNF664_uc001uga.3_Missense_Mutation_p.S118I|ZNF664_uc021rfz.1_Missense_Mutation_p.S118I	NM_152437	NP_689650	Q8N3J9	ZN664_HUMAN	Homo sapiens zinc finger protein 664 (ZNF664), transcript variant 1, mRNA.	118					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|large_intestine(5)|lung(6)|skin(1)	13	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.000239)|OV - Ovarian serous cystadenocarcinoma(86;0.000247)|all cancers(50;0.00155)|BRCA - Breast invasive adenocarcinoma(302;0.249)		TATGTCTGTAGTGAGTGTGGA	0.448000														113			7		0.00198382	0.00208369	1	1	0
RARS2	57038	broad.mit.edu	37	6	88229379	88229379	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:88229379T>C	uc003pme.3	-	13	1219	c.1159A>G	c.(1159-1161)Aga>Gga	p.R387G	RARS2_uc003pmc.3_Missense_Mutation_p.R212G|RARS2_uc003pmf.3_Non-coding_Transcript	NM_020320	NP_064716	Q5T160	SYRM_HUMAN	Homo sapiens arginyl-tRNA synthetase 2, mitochondrial (RARS2), nuclear gene encoding mitochondrial protein, mRNA.	387					arginyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|arginine-tRNA ligase activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0456)		ACATCTCCTCTTCGAGTCTTC	0.398000														46			4		0	0	1	0	0
DNAJC19	131118	broad.mit.edu	37	3	180705837	180705837	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:180705837G>A	uc003fkt.3	-	2	275	c.103C>T	c.(103-105)Caa>Taa	p.Q35*	DNAJC19_uc021xhv.1_Nonsense_Mutation_p.Q10*|DNAJC19_uc021xhw.1_Nonsense_Mutation_p.Q10*|DNAJC19_uc021xhx.1_Non-coding_Transcript|DNAJC19_uc003fku.3_Non-coding_Transcript	NM_145261	NP_001177162	Q96DA6	TIM14_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 19 (DNAJC19), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	35					genitalia development|protein folding|protein targeting to mitochondrion|transmembrane transport|visual perception	integral to membrane|mitochondrial inner membrane	heat shock protein binding			large_intestine(2)|lung(1)	3	all_cancers(143;3.12e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-36)|OV - Ovarian serous cystadenocarcinoma(80;1.55e-22)			TGAAAAACTTGTTTTACTTGA	0.378000														40			19		0	0	1	0	0
PDE4C	5143	broad.mit.edu	37	19	18324238	18324238	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:18324238C>T	uc010xqc.2	-	12	2028	c.1548G>A	c.(1546-1548)gaG>gaA	p.E516E	PDE4C_uc002nik.4_Silent_p.E516E|PDE4C_uc002nil.4_Silent_p.E516E|PDE4C_uc002nig.4_Silent_p.E231E|PDE4C_uc002nih.4_Silent_p.E286E|PDE4C_uc010ebk.3_Silent_p.E410E|PDE4C_uc002nii.4_Silent_p.E484E|PDE4C_uc002nif.4_Silent_p.E285E|PDE4C_uc010ebl.3_Silent_p.E230E	NM_001098819	NP_001092289	Q08493	PDE4C_HUMAN	Homo sapiens phosphodiesterase 4C, cAMP-specific (PDE4C), transcript variant 2, mRNA.	516					signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Dyphylline(DB00651)	CCTTCTTGGTCTCCACCATGG	0.572000														15			4		0	0	1	0	0
DICER1	23405	broad.mit.edu	37	14	95577792	95577792	+	Splice_Site	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:95577792G>A	uc001ydw.2	-	15	2329	c.2117_splice	c.e15-1	p.G706_splice	DICER1_uc021sbc.1_Splice_Site_p.G706_splice|DICER1_uc001ydv.2_Splice_Site_p.G696_splice|DICER1_uc001ydx.2_Splice_Site_p.G706_splice|DICER1_uc021sbd.1_5'Flank	NM_030621	NP_803187	Q9UPY3	DICER_HUMAN	Homo sapiens dicer 1, ribonuclease type III (DICER1), transcript variant 2, mRNA.	706	Dicer dsRNA-binding fold.				negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of Schwann cell differentiation|positive regulation of myelination|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	RNA-induced silencing complex|cytosol	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		CATCCAGTTCGCCTAACAAAT	0.368000			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome					69			47		0	0	1	0	0
RASA2	5922	broad.mit.edu	37	3	141327524	141327524	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:141327524G>A	uc010huq.1	+	21	2222	c.2222G>A	c.(2221-2223)tGc>tAc	p.C741Y	RASA2_uc003etz.1_Missense_Mutation_p.C737Y|RASA2_uc003eua.1_Missense_Mutation_p.C738Y	NM_006506	NP_006497	Q15283	RASA2_HUMAN	Homo sapiens RAS p21 protein activator 2 (RASA2), mRNA.	737					intracellular signal transduction|negative regulation of Ras protein signal transduction	intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm	Ras GTPase activator activity|metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						ACTCTCGGCTGCAAGCCATGT	0.393000														30			18		0	0	1	0	0
CSNK1A1	1452	broad.mit.edu	37	5	148899866	148899866	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:148899866C>T	uc003lqw.1	-	3	923	c.443G>A	c.(442-444)cGt>cAt	p.R148H	CSNK1A1_uc011dcb.1_Missense_Mutation_p.R29H|CSNK1A1_uc011dcc.2_Missense_Mutation_p.R59H|CSNK1A1_uc003lqx.1_Missense_Mutation_p.R148H|CSNK1A1_uc003lqy.1_Missense_Mutation_p.R148H|CSNK1A1_uc010jha.1_Missense_Mutation_p.R148H	NM_001025105	NP_001020276	P48729	KC1A_HUMAN	Homo sapiens casein kinase 1, alpha 1 (CSNK1A1), transcript variant 1, mRNA.	148	Protein kinase.				Wnt receptor signaling pathway|cell division|mitosis	centrosome|condensed chromosome kinetochore|cytosol|nuclear speck	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(4)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)		ATTACAGTGACGCCCAATACC	0.318000														27			25		0	0	1	0	0
BOD1L1	259282	broad.mit.edu	37	4	13615173	13615173	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:13615173C>T	uc003gmz.1	-	4	1404	c.1287G>A	c.(1285-1287)acG>acA	p.T429T	BOD1L1_uc010idr.1_5'UTR|BOD1L1_uc010ids.1_Non-coding_Transcript	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN	Homo sapiens biorientation of chromosomes in cell division 1-like (BOD1L), mRNA.	429	Lys-rich.		T -> M (in dbSNP:rs2035820).				DNA binding	p.T429T(1)									TGCTATCAGACGTTACAACTT	0.383000														61			30		0	0	1	0	0
STK11	6794	broad.mit.edu	37	19	1220378	1220378	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:1220378C>T	uc002lrl.1	+	3	1586	c.471C>T	c.(469-471)ttC>ttT	p.F157F		NM_000455	NP_000446	Q15831	STK11_HUMAN	Homo sapiens serine/threonine kinase 11 (STK11), mRNA.	157	Protein kinase.		F -> S (in sporadic cancer; somatic mutation; impairs heterotrimeric complex assembly with STRADA and CAB39).		anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.0?(20)|p.Y156fs*87(8)|p.?(4)|p.G52_P179del(1)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		GCAGGTACTTCTGTCAGCTGA	0.642000		14	"""D, Mis, N, F, S"""		"""NSCLC, pancreatic"""	"""jejunal harmartoma, ovarian, testicular, pancreatic"""			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)				2			3		0	0	1	0	0
METTL20	254013	broad.mit.edu	37	12	31819145	31819145	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:31819145G>T	uc009zjr.3	+	2	648	c.439G>T	c.(439-441)Gac>Tac	p.D147Y	METTL20_uc001rkl.3_Missense_Mutation_p.D147Y|METTL20_uc001rkm.3_Missense_Mutation_p.D147Y	NM_001135864	NP_776163	Q8IXQ9	MET20_HUMAN	Homo sapiens methyltransferase like 20 (METTL20), transcript variant 3, mRNA.	147						cytoplasm	protein methyltransferase activity			lung(2)|stomach(1)	3						CAATGACATAGACCCTAGTAA	0.383000														84			21		4.16121e-05	4.56046e-05	1	1	0
SPOCD1	90853	broad.mit.edu	37	1	32279930	32279930	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:32279930C>A	uc001bts.1	-	1	1063	c.1005G>T	c.(1003-1005)caG>caT	p.Q335H	SPOCD1_uc001btu.3_Missense_Mutation_p.Q335H|SPOCD1_uc001btv.3_Intron	NM_144569	NP_653170	Q6ZMY3	SPOC1_HUMAN	Homo sapiens SPOC domain containing 1 (SPOCD1), mRNA.	335					transcription, DNA-dependent					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		CTGCAGAGGCCTGTGCTGACG	0.657000														16			3		0.004672	0.00486265	1	1	0
RANBP17	64901	broad.mit.edu	37	5	170395324	170395324	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:170395324G>A	uc003mba.3	+	13	1795	c.1653G>A	c.(1651-1653)tgG>tgA	p.W551*	RANBP17_uc003max.2_Non-coding_Transcript|RANBP17_uc003may.2_Non-coding_Transcript|RANBP17_uc003maz.2_Non-coding_Transcript|RANBP17_uc010jjr.2_Non-coding_Transcript	NM_022897	NP_075048	Q9H2T7	RBP17_HUMAN	Homo sapiens RAN binding protein 17 (RANBP17), mRNA.	551					mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CAATTCTGTGGTTCTTGGATC	0.348000			T	TRD@	ALL									37			37		0	0	1	0	0
SFMBT1	51460	broad.mit.edu	37	3	52968829	52968829	+	Splice_Site	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52968829G>A	uc003dgf.3	-	6	1076	c.453_splice	c.e6+1	p.G151_splice	SFMBT1_uc010hmr.3_Splice_Site_p.G98_splice|SFMBT1_uc003dgg.3_Splice_Site_p.G151_splice|SFMBT1_uc003dgh.3_Splice_Site_p.G151_splice	NM_001005159	NP_057413	Q9UHJ3	SMBT1_HUMAN	Homo sapiens Scm-like with four mbt domains 1 (SFMBT1), transcript variant 1, mRNA.	151					regulation of transcription, DNA-dependent	nucleus				breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	24				BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)		TAATACTCACGCCCTCTAGCA	0.443000														17			17		0	0	1	0	0
CCDC146	57639	broad.mit.edu	37	7	76912054	76912054	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:76912054G>A	uc003uga.3	+	14	2227	c.2100G>A	c.(2098-2100)ctG>ctA	p.L700L	CCDC146_uc010ldp.3_Silent_p.L414L|CCDC146_uc003ugc.3_Silent_p.L37L	NM_020879	NP_065930	Q8IYE0	CC146_HUMAN	Homo sapiens coiled-coil domain containing 146 (CCDC146), mRNA.	700										breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				AGAAATTACTGCCAGCCAAGA	0.433000														63			8		0	0	1	0	0
SERPINA12	145264	broad.mit.edu	37	14	94964601	94964601	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:94964601G>A	uc001ydj.3	-	2	930	c.134C>T	c.(133-135)gCc>gTc	p.A45V		NM_173850	NP_776249	Q8IW75	SPA12_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12 (SERPINA12), mRNA.	45					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33				COAD - Colon adenocarcinoma(157;0.235)		AAGCTCCTTGGCTGCCATCCT	0.502000														108			58		0	0	1	0	0
BEND2	139105	broad.mit.edu	37	X	18234728	18234728	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:18234728C>T	uc004cyj.4	-	1	305	c.151G>A	c.(151-153)Gca>Aca	p.A51T	BEND2_uc010nfb.2_Missense_Mutation_p.A51T	NM_153346	NP_699177	Q8NDZ0	BEND2_HUMAN	Homo sapiens BEN domain containing 2 (BEND2), transcript variant 1, mRNA.	51										NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						GGATTATCTGCTGTGACATAA	0.408000														66			9		0	0	1	0	0
DSCR10	259234	broad.mit.edu	37	21	39580414	39580414	+	RNA	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:39580414C>A	uc010gnt.2	+	2		c.536C>A								Homo sapiens Down syndrome critical region gene 10 (non-protein coding) (DSCR10), non-coding RNA.																		CCTCCGCTTCCTGTCAGGGTG	0.582000														216			18		7.07596e-05	7.73367e-05	1	1	0
CPT1A	1374	broad.mit.edu	37	11	68540734	68540734	+	Splice_Site	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:68540734T>C	uc001oog.4	-	14	1910	c.1740_splice	c.e14+1	p.K580_splice	CPT1A_uc001oof.4_Splice_Site_p.K580_splice	NM_001876	NP_001867	P50416	CPT1A_HUMAN	Homo sapiens carnitine palmitoyltransferase 1A (liver) (CPT1A), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	580					carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		L-Carnitine(DB00583)|Perhexiline(DB01074)	AGTTCTTACCTTGTAGTGCGC	0.562000														16			21		0	0	1	0	0
NSUN2	54888	broad.mit.edu	37	5	6632715	6632715	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:6632715T>C	uc003jdu.3	-	1	632	c.251A>G	c.(250-252)aAa>aGa	p.K84R	NSUN2_uc011cmk.2_Missense_Mutation_p.K84R|NSUN2_uc003jdv.3_5'UTR|SRD5A1_uc003jdw.3_5'Flank|SRD5A1_uc011cml.2_5'Flank|SRD5A1_uc011cmm.2_5'Flank	NM_017755	NP_060225	Q08J23	NSUN2_HUMAN	Homo sapiens NOP2/Sun domain family, member 2 (NSUN2), transcript variant 1, mRNA.	84						cytoplasm|nucleolus	tRNA (cytosine-5-)-methyltransferase activity|tRNA binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	41						TCCCTACCTTTTGTAACCAGT	0.547000														104			11		0	0	1	0	0
METTL14	57721	broad.mit.edu	37	4	119625123	119625123	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:119625123G>T	uc003icf.3	+	8	888	c.772G>T	c.(772-774)Gat>Tat	p.D258Y		NM_020961	NP_066012	Q9HCE5	MTL14_HUMAN	Homo sapiens methyltransferase like 14 (METTL14), mRNA.	258						nucleus	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1)	16						AAGATGTGAAGATATTTGTTG	0.303000														36			5		0.217242	0.21859	1	1	0
SSPN	8082	broad.mit.edu	37	12	26383894	26383894	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:26383894G>A	uc001rhe.3	+	2	717	c.617G>A	c.(616-618)gGc>gAc	p.G206D	SSPN_uc001rhd.3_Missense_Mutation_p.G103D|SSPN_uc009zjf.2_Intron|SSPN_uc001rhf.3_Intron	NM_005086	NP_001129295	Q14714	SSPN_HUMAN	Homo sapiens sarcospan (Kras oncogene-associated gene) (SSPN), transcript variant 1, mRNA.	206					cell adhesion|muscle contraction	cell junction|dystrophin-associated glycoprotein complex|integral to plasma membrane|postsynaptic membrane|sarcolemma|transport vesicle				kidney(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	10	Colorectal(261;0.0847)					TTGGTCTGCGGCCTTGTGTGC	0.507000														52			29		0	0	1	0	0
SHANK3	85358	broad.mit.edu	37	22	51160848	51160848	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:51160848G>A	uc003bne.1	+	21	4635	c.4635G>A	c.(4633-4635)tcG>tcA	p.S1545S	SHANK3_uc003bnf.1_Silent_p.S992S	NM_001080420	NP_001073889	F2Z3L0	F2Z3L0_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 3 (SHANK3), mRNA.	1545										central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		CCAAGAAGTCGCCCATCGCAG	0.652000														16			11		0	0	1	0	0
LOC643923	643923	broad.mit.edu	37	11	107463069	107463069	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:107463069G>T	uc001pjo.1	+	1	280	c.267G>T	c.(265-267)caG>caT	p.Q89H	ELMOD1_uc010rvs.2_Intron|ELMOD1_uc001pjm.3_Intron|ELMOD1_uc010rvt.2_Intron					Homo sapiens uncharacterized LOC643923 (LOC643923), non-coding RNA.														Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00512)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;2.61e-05)|Epithelial(105;0.000155)|all cancers(92;0.00283)		CTAACCCCCAGTGGGCCGTAG	0.478000														21			17		3.41278e-10	4.10877e-10	1	1	0
SLC4A4	8671	broad.mit.edu	37	4	72338541	72338541	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:72338541A>G	uc010iic.3	+	13	1874	c.1757A>G	c.(1756-1758)gAg>gGg	p.E586G	SLC4A4_uc003hfy.3_Missense_Mutation_p.E586G|SLC4A4_uc010iib.3_Missense_Mutation_p.E586G|SLC4A4_uc003hfz.3_Missense_Mutation_p.E586G|SLC4A4_uc003hgc.4_Missense_Mutation_p.E542G|SLC4A4_uc010iid.3_Intron|SLC4A4_uc003hga.2_Missense_Mutation_p.E464G|SLC4A4_uc003hgb.3_Missense_Mutation_p.E542G	NM_001134742	NP_001128214	Q9Y6R1	S4A4_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 4 (SLC4A4), transcript variant 3, mRNA.	586						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			TTCACGGAGGAGGGCTTTTCC	0.448000														97			52		0	0	1	0	0
STXBP3	6814	broad.mit.edu	37	1	109351454	109351454	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:109351454G>A	uc001dvy.3	+	18	1809	c.1734G>A	c.(1732-1734)atG>atA	p.M578I		NM_007269	NP_009200	O00186	STXB3_HUMAN	Homo sapiens syntaxin binding protein 3 (STXBP3), mRNA.	578					negative regulation of calcium ion-dependent exocytosis|neutrophil degranulation|platelet aggregation|protein transport|vesicle docking involved in exocytosis	cytosol|nucleus|platelet alpha granule|specific granule|tertiary granule	syntaxin-2 binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(3)|urinary_tract(1)	13		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0386)|Lung(183;0.104)|COAD - Colon adenocarcinoma(174;0.137)|Epithelial(280;0.231)		ATATAAAGATGCTGAATAAAC	0.323000														216			78		0	0	1	0	0
KIAA0825	285600	broad.mit.edu	37	5	93872794	93872794	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:93872794T>G	uc011cuk.2	-	2	295	c.38A>C	c.(37-39)gAc>gCc	p.D13A	KIAA0825_uc003kkp.2_Missense_Mutation_p.D13A	NM_001145678	NP_001139150	Q8IV33	K0825_HUMAN	Homo sapiens KIAA0825 (KIAA0825), transcript variant 1, mRNA.	13										breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(1)	13						ACAATGTAGGTCAAAAGAATT	0.373000														38			5		0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237632393	237632393	+	Splice_Site	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:237632393G>A	uc001hyl.1	+	17	1733	c.1613_splice	c.e17-1	p.A538_splice		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	538					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CTTTTGCAGCGGCTCTAATTA	0.378000														33			13		0	0	1	0	0
BUB3	9184	broad.mit.edu	37	10	124922226	124922226	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:124922226A>G	uc001lhe.2	+	6	1095	c.853A>G	c.(853-855)Agt>Ggt	p.S285G	BUB3_uc001lhf.4_Missense_Mutation_p.S285G|BUB3_uc001lhd.2_Missense_Mutation_p.S285G|BUB3_uc010qud.1_Missense_Mutation_p.S205G	NM_004725	NP_004716	O43684	BUB3_HUMAN	Homo sapiens budding uninhibited by benzimidazoles 3 homolog (yeast) (BUB3), transcript variant 1, mRNA.	285					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|attachment of spindle microtubules to kinetochore|cell division|meiosis|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle	condensed chromosome kinetochore|cytosol|nucleus	protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	9		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)				ACTTGCCTTCAGTAATGATGG	0.433000														78			13		0	0	1	0	0
CYP2D6	1565	broad.mit.edu	37	22	42523854	42523854	+	Silent	SNP	C	T	T	rs79292917	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:42523854C>T	uc003bce.3	-	5	1065	c.975G>A	c.(973-975)ccG>ccA	p.P325P	LOC100132273_uc003bcd.1_Intron|CYP2D6_uc010gyu.3_Silent_p.P19P|CYP2D6_uc003bcf.3_Silent_p.P274P	NM_000106	NP_000097	Q6NWU0	Q6NWU0_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily D, polypeptide 6 (CYP2D6), transcript variant 1, mRNA.	325							electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(4)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GCTGCACATCCGGATGTAGGA	0.627000														31			19		0	0	1	0	0
ULK2	9706	broad.mit.edu	37	17	19708066	19708066	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:19708066C>T	uc002gwm.4	-	14	1744	c.1235G>A	c.(1234-1236)cGc>cAc	p.R412H	ULK2_uc002gwn.3_Missense_Mutation_p.R412H	NM_001142610	NP_055498	Q8IYT8	ULK2_HUMAN	Homo sapiens unc-51-like kinase 2 (C. elegans) (ULK2), transcript variant 2, mRNA.	412					signal transduction		ATP binding|protein binding|protein serine/threonine kinase activity			large_intestine(1)|skin(4)|stomach(1)	6	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)					CTGCTCTATGCGCTGATAATT	0.403000														34			33		0	0	1	0	0
PCDH8	5100	broad.mit.edu	37	13	53422376	53422376	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:53422376T>G	uc001vhi.3	-	0	400	c.196A>C	c.(196-198)Atg>Ctg	p.M66L	PCDH8_uc001vhj.3_Missense_Mutation_p.M66L	NM_002590	NP_002581	O95206	PCDH8_HUMAN	Homo sapiens protocadherin 8 (PCDH8), transcript variant 1, mRNA.	66	Cadherin 1.				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		AATTGCTTCATCAGGCGGAAG	0.657000														93			5		0	0	1	0	0
KBTBD6	89890	broad.mit.edu	37	13	41704782	41704782	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:41704782G>A	uc001uxu.1	-	0	2155	c.1866C>T	c.(1864-1866)tgC>tgT	p.C622C	AK056182_uc001uxv.1_5'Flank	NM_152903	NP_690867	Q86V97	KBTB6_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 6 (KBTBD6), mRNA.	622							protein binding			NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		CAGGTTCAAGGCAGGAAGGAT	0.433000														37			28		0	0	1	0	0
ANLN	54443	broad.mit.edu	37	7	36450152	36450152	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:36450152C>T	uc003tff.3	+	5	1330	c.1126C>T	c.(1126-1128)Cgc>Tgc	p.R376C	ANLN_uc011kaz.2_Missense_Mutation_p.R288C|ANLN_uc003tfg.3_Missense_Mutation_p.R376C|ANLN_uc010kxe.3_Missense_Mutation_p.R376C	NM_018685	NP_061155	Q9NQW6	ANLN_HUMAN	Homo sapiens anillin, actin binding protein (ANLN), mRNA.	376	Interaction with F-actin.				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						TTTCCTGGAACGCTTTGGAGA	0.398000														20			39		0	0	1	0	0
MARS	4141	broad.mit.edu	37	12	57894244	57894244	+	Missense_Mutation	SNP	A	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57894244A>T	uc001sog.3	+	9	1386	c.1232A>T	c.(1231-1233)gAg>gTg	p.E411V	MARS_uc001sof.1_Non-coding_Transcript|MARS_uc010srp.1_Missense_Mutation_p.E284V|MARS_uc010srq.1_Missense_Mutation_p.E177V	NM_004990	NP_004981	P56192	SYMC_HUMAN	Homo sapiens methionyl-tRNA synthetase (MARS), mRNA.	411					methionyl-tRNA aminoacylation	cytosol	ATP binding|methionine-tRNA ligase activity|protein binding|tRNA binding			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	33			GBM - Glioblastoma multiforme(3;4.27e-41)		L-Methionine(DB00134)	TGTGGCTATGAGGAGGCTCGG	0.572000														52			4		0	0	1	0	0
GPR155	151556	broad.mit.edu	37	2	175346648	175346648	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:175346648C>T	uc002uit.3	-	2	428	c.37G>A	c.(37-39)Gca>Aca	p.A13T	GPR155_uc002uiu.3_Missense_Mutation_p.A13T|GPR155_uc002uiv.3_Missense_Mutation_p.A13T|GPR155_uc010fqs.3_Missense_Mutation_p.A13T	NM_001033045	NP_689742	Q7Z3F1	GP155_HUMAN	Homo sapiens G protein-coupled receptor 155 (GPR155), transcript variant 9, mRNA.	13					intracellular signal transduction|transmembrane transport	integral to membrane				breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	26						ATATTGACTGCAATGGTTAAG	0.408000														65			38		0	0	1	0	0
TRPC7	57113	broad.mit.edu	37	5	135583405	135583405	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:135583405G>T	uc003lbn.2	-	6	1820	c.1598C>A	c.(1597-1599)cCt>cAt	p.P533H	TRPC7_uc010jef.2_Missense_Mutation_p.P469H|TRPC7_uc010jeg.2_Non-coding_Transcript|TRPC7_uc010jej.2_Missense_Mutation_p.P84H|TRPC7_uc010jeh.2_Missense_Mutation_p.P472H|TRPC7_uc010jei.2_Missense_Mutation_p.P417H	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 7 (TRPC7), transcript variant 1, mRNA.	533					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AGGGTCTGAAGGCCACCACTT	0.498000														44			19		1.2644e-06	1.43864e-06	1	1	0
CARD9	64170	broad.mit.edu	37	9	139264250	139264250	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:139264250G>A	uc022bpp.1	-	6	1195	c.1029C>T	c.(1027-1029)atC>atT	p.I343I	CARD9_uc004chg.3_Silent_p.I343I|CARD9_uc022bpo.1_Silent_p.I343I|CARD9_uc011mdx.1_Silent_p.I239I	NM_052814	NP_434701	Q9H257	CARD9_HUMAN	Homo sapiens caspase recruitment domain family, member 9 (CARD9), transcript variant 2, mRNA.	343					positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of stress-activated MAPK cascade|regulation of apoptosis	cytoplasm	CARD domain binding|protein homodimerization activity			endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(3)|skin(1)	15		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;4.58e-06)|Epithelial(140;5.65e-06)		GGATGGCCTCGATGCGGTCCT	0.637000														13			4		0	0	1	0	0
IGSF10	285313	broad.mit.edu	37	3	151165181	151165181	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:151165181G>A	uc011bod.2	-	3	2588	c.2588C>T	c.(2587-2589)aCt>aTt	p.T863I		NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	Homo sapiens immunoglobulin superfamily, member 10 (IGSF10), transcript variant 1, mRNA.	863					cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TTTAATAGCAGTAGACAGTTT	0.383000														228			69		0	0	1	0	0
DCAF4L2	138009	broad.mit.edu	37	8	88885128	88885128	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:88885128C>T	uc003ydz.3	-	0	1169	c.1072G>A	c.(1072-1074)Gcc>Acc	p.A358T		NM_152418	NP_689631	Q8NA75	DC4L2_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 4-like 2 (DCAF4L2), mRNA.	358										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						TTCTCCGAGGCGGGGTATGGG	0.622000														32			23		0	0	1	0	0
EXOC2	55770	broad.mit.edu	37	6	491132	491132	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:491132C>T	uc003mtd.3	-	25	2748	c.2614G>A	c.(2614-2616)Gaa>Aaa	p.E872K	EXOC2_uc003mte.3_Missense_Mutation_p.E872K|EXOC2_uc011dho.2_Missense_Mutation_p.E467K	NM_018303	NP_060773	Q96KP1	EXOC2_HUMAN	Homo sapiens exocyst complex component 2 (EXOC2), mRNA.	872					exocytosis|protein transport			p.P871P(1)		breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		TACTTGCTTTCGGGTGTCAGG	0.383000														157			7		0	0	1	0	0
WTAP	9589	broad.mit.edu	37	6	160176190	160176190	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:160176190C>A	uc003qsl.3	+	7	960	c.738C>A	c.(736-738)gcC>gcA	p.A246A	WTAP_uc003qso.3_Silent_p.A127A	NM_004906	NP_004897	Q15007	FL2D_HUMAN	Homo sapiens Wilms tumor 1 associated protein (WTAP), transcript variant 1, mRNA.	246					RNA splicing|cell cycle|mRNA processing	nuclear membrane|nucleolus				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	18		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06)		AGTCTCAGGCCTCTGCCCCAA	0.522000														25			4		0.150653	0.152248	1	1	0
CCDC108	255101	broad.mit.edu	37	2	219884251	219884251	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:219884251G>T	uc002vjl.1	-	19	3534	c.3450C>A	c.(3448-3450)acC>acA	p.T1150T	CCDC108_uc002vjm.3_Silent_p.T35T	NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	Homo sapiens coiled-coil domain containing 108 (CCDC108), transcript variant 1, mRNA.	1150						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCACCTTGTAGGTGAGCTCAC	0.622000														24			3		0.004672	0.00486265	1	1	0
PROC	5624	broad.mit.edu	37	2	128183683	128183683	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:128183683C>A	uc002tol.3	+	6	648	c.621C>A	c.(619-621)ccC>ccA	p.P207P	PROC_uc002tok.3_Silent_p.P186P|PROC_uc010yzi.2_Silent_p.P242P|PROC_uc010yzj.2_Silent_p.P81P|PROC_uc010yzk.2_Silent_p.P241P|MIR4783_uc021vno.1_5'Flank	NM_000312	NP_000303	P04070	PROC_HUMAN	Homo sapiens protein C (inactivator of coagulation factors Va and VIIIa) (PROC), mRNA.	186					blood coagulation|leukocyte migration|negative regulation of apoptosis|negative regulation of blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	Golgi lumen|endoplasmic reticulum lumen|plasma membrane	calcium ion binding|protein binding|serine-type endopeptidase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0673)	Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	GTGGGAGGCCCTGGAAGCGGA	0.592000														35			11		0.105934	0.107573	1	1	0
EPB42	2038	broad.mit.edu	37	15	43500847	43500847	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:43500847C>A	uc001zrb.4	-	6	1349	c.1049G>T	c.(1048-1050)aGa>aTa	p.R350I	EPB42_uc001zqz.4_5'UTR|EPB42_uc001zra.4_Missense_Mutation_p.R320I|EPB42_uc010udm.2_Missense_Mutation_p.R242I	NM_000119	NP_000110	P16452	EPB42_HUMAN	Homo sapiens erythrocyte membrane protein band 4.2 (EPB42), transcript variant 1, mRNA.	320				H -> D (in Ref. 1; AAA74589/AAA52385 and 2; AAA35798).	erythrocyte maturation|peptide cross-linking|regulation of cell shape	cytoplasm|cytoskeleton|plasma membrane	ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton			endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)		GATTCTGCCTCTCTGGCCTTC	0.577000														207			71		8.87156e-34	1.17452e-33	1	1	0
KLHL12	59349	broad.mit.edu	37	1	202866077	202866077	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:202866077C>T	uc001gyo.1	-	6	1044	c.844G>A	c.(844-846)Gtg>Atg	p.V282M	KLHL12_uc001gym.1_Missense_Mutation_p.V15M|KLHL12_uc001gyn.1_Missense_Mutation_p.V132M|KLHL12_uc010pqc.1_Missense_Mutation_p.V320M|KLHL12_uc009xah.1_Intron	NM_021633	NP_067646	Q53G59	KLH12_HUMAN	Homo sapiens kelch-like 12 (Drosophila) (KLHL12), mRNA.	282					Wnt receptor signaling pathway		protein binding			NS(3)|breast(2)|endometrium(1)|large_intestine(1)|lung(6)|stomach(1)	14			BRCA - Breast invasive adenocarcinoma(75;0.166)			ACCAAAAGCACTTCATTGGCT	0.468000														220			18		0	0	1	0	0
ERO1LB	56605	broad.mit.edu	37	1	236389961	236389961	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:236389961T>G	uc001hxt.3	-	10	1047	c.791A>C	c.(790-792)aAt>aCt	p.N264T		NM_019891	NP_063944	Q86YB8	ERO1B_HUMAN	Homo sapiens ERO1-like beta (S. cerevisiae) (ERO1LB), mRNA.	264					electron transport chain|protein thiol-disulfide exchange|transport	endoplasmic reticulum membrane	flavin adenine dinucleotide binding|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor|unfolded protein binding			NS(1)|endometrium(3)|large_intestine(8)|lung(8)|skin(2)|urinary_tract(1)	23	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.123)|Acute lymphoblastic leukemia(190;0.205)|Prostate(94;0.219)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)			CAAAAGATAATTTGCGCATAG	0.299000														65			41		0	0	1	0	0
ZMAT4	79698	broad.mit.edu	37	8	40554769	40554769	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:40554769G>A	uc003xnr.3	-	3	490	c.344C>T	c.(343-345)aCc>aTc	p.T115I	ZMAT4_uc003xns.3_Missense_Mutation_p.T115I	NM_024645	NP_078921	Q9H898	ZMAT4_HUMAN	Homo sapiens zinc finger, matrin-type 4 (ZMAT4), transcript variant 1, mRNA.	115						nucleus	DNA binding|zinc ion binding	p.T115I(2)		NS(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18	Ovarian(28;0.00724)|Colorectal(14;0.0468)	all_cancers(7;0.00936)|all_epithelial(6;3.53e-06)|all_lung(54;0.0318)|Lung NSC(58;0.0919)|Esophageal squamous(32;0.15)|Hepatocellular(245;0.152)	LUSC - Lung squamous cell carcinoma(45;0.00722)			CGTACCTGTGGTCTTTAATGG	0.507000														76			38		0	0	1	0	0
PKD1L1	168507	broad.mit.edu	37	7	47869717	47869717	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:47869717C>T	uc003tny.2	-	42	6513	c.6479G>A	c.(6478-6480)gGc>gAc	p.G2160D	C7orf69_uc003toa.1_Intron|PKD1L1_uc003tob.3_5'Flank	NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA.	2160					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						TTGCTCCTGGCCAAACCTGCC	0.582000														27			12		0	0	1	0	0
CLK3	1198	broad.mit.edu	37	15	74912538	74912538	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:74912538G>A	uc010uln.2	+	2	1246	c.785G>A	c.(784-786)cGc>cAc	p.R262H	CLK3_uc002ayg.4_Missense_Mutation_p.R114H|CLK3_uc002ayh.4_5'UTR|CLK3_uc010ulm.1_Missense_Mutation_p.R262H|CLK3_uc002ayj.4_Missense_Mutation_p.R114H|CLK3_uc002ayk.4_5'UTR	NM_001130028	NP_003983	P49761	CLK3_HUMAN	Homo sapiens CDC-like kinase 3 (CLK3), transcript variant 1, mRNA.	262	Arg-rich.					acrosomal vesicle|nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)|stomach(2)|urinary_tract(1)	15						CACAAACGCCGCACCAGGTCT	0.617000														62			37		0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26422936	26422936	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:26422936C>T	uc003abz.1	+	42	7246	c.6996C>T	c.(6994-6996)gaC>gaT	p.D2332D	MYO18B_uc003aca.1_Silent_p.D2213D|MYO18B_uc010guy.1_Silent_p.D2214D|MYO18B_uc010guz.1_Silent_p.D2212D|MYO18B_uc011aka.1_Silent_p.D1486D|MYO18B_uc011akb.1_Silent_p.D1845D|MYO18B_uc010gva.1_Silent_p.D315D|MYO18B_uc010gvb.1_Non-coding_Transcript	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	2332						nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						TCTCTTCAGACGGTGTTGGGG	0.552000														43			18		0	0	1	0	0
GLIS3	169792	broad.mit.edu	37	9	4286206	4286206	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:4286206C>T	uc003zhx.1	-	1	933	c.220G>A	c.(220-222)Gtg>Atg	p.V74M	GLIS3_uc003zic.1_Missense_Mutation_p.V74M|GLIS3_uc003zie.1_Missense_Mutation_p.V74M|GLIS3_uc010mhh.1_Intron|GLIS3_uc003zid.1_5'UTR|GLIS3_uc010mhi.1_Intron|GLIS3_uc003zif.1_5'UTR|GLIS3_uc003zih.1_Intron|GLIS3_uc003zig.1_Intron|GLIS3_uc003zii.1_Missense_Mutation_p.V74M	NM_001042413	NP_001035878	Q8NEA6	GLIS3_HUMAN	Homo sapiens GLIS family zinc finger 3 (GLIS3), transcript variant 1, mRNA.	0	Ser-rich.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		CTCTCAGCCACGTTGTTCTGA	0.587000														38			12		0	0	1	0	0
SIGLEC8	27181	broad.mit.edu	37	19	51961369	51961369	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:51961369C>A	uc002pwt.3	-	0	340	c.273G>T	c.(271-273)gaG>gaT	p.E91D	SIGLEC8_uc010yda.2_Missense_Mutation_p.E91D|SIGLEC8_uc002pwu.3_Non-coding_Transcript|SIGLEC8_uc010eox.2_Missense_Mutation_p.E91D	NM_014442	NP_055257	Q9NYZ4	SIGL8_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 8 (SIGLEC8), mRNA.	91	Ig-like V-type.				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		GGCCCTGGGTCTCTGCCTGCA	0.552000														72			36		8.16277e-20	1.05176e-19	1	1	0
CACNA1S	779	broad.mit.edu	37	1	201029852	201029852	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:201029852G>T	uc001gvv.3	-	25	3575	c.3348C>A	c.(3346-3348)acC>acA	p.T1116T		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA.	1116					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	AGTAGGAGGAGGTGACAATGT	0.517000														193			86		5.2429e-30	6.91505e-30	1	1	0
MCM3AP	8888	broad.mit.edu	37	21	47692609	47692609	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:47692609C>A	uc002zir.1	-	7	2367	c.2331G>T	c.(2329-2331)gaG>gaT	p.E777D		NM_003906	NP_003897	O60318	MCM3A_HUMAN	Homo sapiens minichromosome maintenance complex component 3 associated protein (MCM3AP), mRNA.	777					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					TGGTCATGTTCTCATTATTGA	0.527000														76			52		3.19069e-20	4.11671e-20	1	1	0
KMO	8564	broad.mit.edu	37	1	241718931	241718931	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:241718931G>T	uc009xgp.3	+	4	643	c.332G>T	c.(331-333)aGa>aTa	p.R111I	KMO_uc001hyy.3_Missense_Mutation_p.R151I|KMO_uc009xgo.2_Missense_Mutation_p.R151I	NM_003679	NP_003670	O15229	KMO_HUMAN	Homo sapiens kynurenine 3-monooxygenase (kynurenine 3-hydroxylase) (KMO), mRNA.	111					pyridine nucleotide biosynthetic process|response to salt stress	cytosol|integral to membrane|mitochondrial outer membrane	NAD(P)H oxidase activity|electron carrier activity|flavin adenine dinucleotide binding|kynurenine 3-monooxygenase activity			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Ovarian(103;0.103)|all_lung(81;0.23)		OV - Ovarian serous cystadenocarcinoma(106;0.0176)			TCTGTAAGCAGAGAAAATCTA	0.308000														39			6		8.12818e-05	8.84769e-05	1	1	0
FAM53B	9679	broad.mit.edu	37	10	126311927	126311927	+	Missense_Mutation	SNP	C	T	T	rs140442850	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:126311927C>T	uc001lhv.1	-	4	1676	c.1153G>A	c.(1153-1155)Gag>Aag	p.E385K	FAM53B_uc001lhu.1_Intron	NM_014661	NP_055476	Q14153	FA53B_HUMAN	Homo sapiens family with sequence similarity 53, member B (FAM53B), mRNA.	385										cervix(1)|lung(5)|ovary(2)|pancreas(1)	9		all_lung(145;0.0191)|Lung NSC(174;0.0301)|Colorectal(57;0.106)|all_neural(114;0.117)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.15)		CCACAATCCTCGTCCAGGGCG	0.682000														14			8		0	0	1	0	0
PDE3B	5140	broad.mit.edu	37	11	14852272	14852272	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:14852272A>G	uc001mln.3	+	7	2189	c.1836A>G	c.(1834-1836)gaA>gaG	p.E612E	PDE3B_uc010rcr.2_Silent_p.E561E	NM_000922	NP_000913	Q13370	PDE3B_HUMAN	Homo sapiens phosphodiesterase 3B, cGMP-inhibited (PDE3B), mRNA.	612					cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation	Golgi apparatus|cytosol|endoplasmic reticulum|guanyl-nucleotide exchange factor complex|integral to membrane|microsome	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TCTCGAAAGAATCATTCAAAC	0.318000														17			17		0	0	1	0	0
ADD2	119	broad.mit.edu	37	2	70890837	70890837	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:70890837G>A	uc021vjc.1	-	15	2166	c.1901C>T	c.(1900-1902)gCc>gTc	p.A634V	ADD2_uc010fds.2_Non-coding_Transcript|ADD2_uc002sgy.3_3'UTR|ADD2_uc002sgz.3_Missense_Mutation_p.A634V	NM_001185054	NP_001608	P35612	ADDB_HUMAN	Homo sapiens adducin 2 (beta) (ADD2), transcript variant 5, mRNA.	634					actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	F-actin capping protein complex|cytoplasm|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						TGTGGTGGCGGCTTTGCTTGT	0.522000														28			21		0	0	1	0	0
PRPH	5630	broad.mit.edu	37	12	49691175	49691175	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:49691175G>T	uc001rtu.3	+	5	1107	c.1032G>T	c.(1030-1032)gaG>gaT	p.E344D		NM_006262	NP_006253	P41219	PERI_HUMAN	Homo sapiens peripherin (PRPH), mRNA.	344	Coil 2.|Rod.						structural molecule activity			kidney(1)|large_intestine(2)|lung(8)|skin(1)	12						GAGAGCTGGAGGAGCAGTTCG	0.672000											OREG0021790	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		11			7		2.0095e-06	2.27092e-06	1	1	0
SIPA1L2	57568	broad.mit.edu	37	1	232649691	232649691	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:232649691C>T	uc001hvg.3	-	0	1553	c.1395G>A	c.(1393-1395)caG>caA	p.Q465Q		NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 2 (SIPA1L2), mRNA.	465					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				TGTGAATAGGCTGGTTTTCTC	0.478000														86			80		0	0	1	0	0
SMARCA5	8467	broad.mit.edu	37	4	144465101	144465101	+	Silent	SNP	A	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:144465101A>T	uc003ijg.3	+	15	2610	c.2148A>T	c.(2146-2148)ggA>ggT	p.G716G		NM_003601	NP_003592	O60264	SMCA5_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5 (SMARCA5), mRNA.	716					CenH3-containing nucleosome assembly at centromere|nucleosome positioning|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	NURF complex|RSF complex|condensed chromosome|nucleolus|nucleoplasm	ATP binding|ATPase activity|DNA binding|helicase activity|nucleosome binding|protein binding		EWSR1/SMARCA5(2)	endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(180;0.158)					ACTTCGAAGGAGAAGACTATA	0.333000														79			10		0	0	1	0	0
ESPL1	9700	broad.mit.edu	37	12	53685848	53685848	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:53685848A>G	uc001sck.2	+	26	5863	c.5772A>G	c.(5770-5772)ctA>ctG	p.L1924L	ESPL1_uc001scj.2_Silent_p.L1599L	NM_012291	NP_036423	Q14674	ESPL1_HUMAN	Homo sapiens extra spindle pole bodies homolog 1 (S. cerevisiae) (ESPL1), mRNA.	1924					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						TCCGCTTCCTACTCAGCTACT	0.572000														59			11		0	0	1	0	0
SMAP2	64744	broad.mit.edu	37	1	40874359	40874359	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:40874359G>A	uc001cfj.3	+	2	687	c.272G>A	c.(271-273)cGa>cAa	p.R91Q	SMAP2_uc010ojh.2_Missense_Mutation_p.R91Q|SMAP2_uc001cfk.3_Missense_Mutation_p.R61Q|SMAP2_uc021oma.1_Missense_Mutation_p.R86Q|SMAP2_uc010oji.2_Missense_Mutation_p.R11Q	NM_022733	NP_001185909	Q8WU79	SMAP2_HUMAN	Homo sapiens small ArfGAP2 (SMAP2), transcript variant 1, mRNA.	91	Arf-GAP.				regulation of ARF GTPase activity	cytoplasm|nucleus	ARF GTPase activator activity|zinc ion binding			central_nervous_system(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24	Lung NSC(20;1.56e-05)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.04e-17)			AAGGCAAACCGACTTTATGAA	0.438000														50			42		0	0	1	0	0
DMPK	1760	broad.mit.edu	37	19	46280785	46280785	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:46280785G>A	uc002pdi.1	-	8	1210	c.1024C>T	c.(1024-1026)Cgg>Tgg	p.R342W	DMPK_uc010xxs.1_Missense_Mutation_p.R227W|DMPK_uc002pdd.1_Missense_Mutation_p.R326W|DMPK_uc002pde.1_Missense_Mutation_p.R326W|DMPK_uc002pdg.1_Missense_Mutation_p.R316W|DMPK_uc002pdf.1_Missense_Mutation_p.R316W|DMPK_uc002pdh.1_Missense_Mutation_p.R316W|DMPK_uc010xxt.1_Missense_Mutation_p.R316W	NM_001081563	NP_001075032	Q09013	DMPK_HUMAN	Homo sapiens dystrophia myotonica-protein kinase (DMPK), transcript variant 1, mRNA.	326	Protein kinase.				regulation of heart contraction		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			endometrium(5)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)|urinary_tract(2)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)		CACAGCAACCGCTGAATGAAG	0.652000														30			27		0	0	1	0	0
KAT6B	23522	broad.mit.edu	37	10	76789402	76789402	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:76789402C>A	uc001jwn.1	+	17	5313	c.4820C>A	c.(4819-4821)cCt>cAt	p.P1607H	KAT6B_uc001jwo.1_Missense_Mutation_p.P1315H|KAT6B_uc001jwp.1_Missense_Mutation_p.P1424H	NM_012330	NP_036462	Q8WYB5	MYST4_HUMAN	Homo sapiens K(lysine) acetyltransferase 6B (KAT6B), mRNA.	1607	Interaction with RUNX1 and RUNX2.|Ser-rich.				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding										CACTCCCATCCTGGCCAGTCC	0.552000														33			12		0.00010058	0.000109296	1	1	0
BSN	8927	broad.mit.edu	37	3	49694644	49694644	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49694644G>A	uc003cxe.4	+	4	7769	c.7655G>A	c.(7654-7656)gGc>gAc	p.G2552D		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.	2552					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		AGCCGTAGTGGCATCAAGAAG	0.637000														25			12		0	0	1	0	0
ARHGAP5	394	broad.mit.edu	37	14	32563100	32563100	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:32563100C>T	uc001wrl.3	+	1	3464	c.3225C>T	c.(3223-3225)tcC>tcT	p.S1075S	ARHGAP5_uc001wrm.3_Silent_p.S1075S|ARHGAP5_uc001wrn.3_Silent_p.S1075S|ARHGAP5_uc001wro.3_Intron|ARHGAP5_uc001wrp.3_Intron	NM_001173	NP_001025226	Q13017	RHG05_HUMAN	Homo sapiens Rho GTPase activating protein 5 (ARHGAP5), transcript variant 2, mRNA.	1075					Rho protein signal transduction|cell adhesion	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		AGCAGACTTCCCGGGTGCCTT	0.383000														60			30		0	0	1	0	0
ACSS2	55902	broad.mit.edu	37	20	33501965	33501965	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:33501965G>A	uc010gey.2	+	5	831	c.710G>A	c.(709-711)tGt>tAt	p.C237Y	ACSS2_uc002xbc.2_Missense_Mutation_p.C142Y|ACSS2_uc010zum.1_Intron|ACSS2_uc002xbd.2_Missense_Mutation_p.C237Y|ACSS2_uc002xbe.2_Intron	NM_001076552	NP_001070020	Q9NR19	ACSA_HUMAN	Homo sapiens acyl-CoA synthetase short-chain family member 2 (ACSS2), transcript variant 2, mRNA.	237					ethanol oxidation|lipid biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	ATP binding|acetate-CoA ligase activity|protein binding			cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(9)	21					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CTGCAGAAGTGTCAGGAGAAG	0.532000														23			6		0	0	1	0	0
ACSBG1	23205	broad.mit.edu	37	15	78526740	78526740	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:78526740C>A	uc002bdh.3	-	0	310	c.104G>T	c.(103-105)aGg>aTg	p.R35M	ACSBG1_uc010umx.2_5'UTR|ACSBG1_uc010umw.2_Missense_Mutation_p.R35M|ACSBG1_uc010umy.2_5'UTR	NM_015162	NP_055977	Q96GR2	ACBG1_HUMAN	Homo sapiens acyl-CoA synthetase bubblegum family member 1 (ACSBG1), transcript variant 1, mRNA.	35					long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process	cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome	ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity			endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						TTGGGTGGTCCTCACAATCAT	0.552000														258			24		1.66031e-10	2.00663e-10	1	1	0
PPFIA1	8500	broad.mit.edu	37	11	70172385	70172385	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:70172385A>G	uc001opo.3	+	5	839	c.624A>G	c.(622-624)gaA>gaG	p.E208E	PPFIA1_uc001opn.2_Silent_p.E208E|PPFIA1_uc001opp.3_Non-coding_Transcript|PPFIA1_uc001opq.1_Non-coding_Transcript	NM_003626	NP_003617	Q13136	LIPA1_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1 (PPFIA1), transcript variant 2, mRNA.	208					cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			TTCTTAAAGAACAGAATAATC	0.328000														17			9		0	0	1	0	0
ALDH6A1	4329	broad.mit.edu	37	14	74538062	74538062	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:74538062G>A	uc001xpo.3	-	5	665	c.566C>T	c.(565-567)gCc>gTc	p.A189V	C14orf45_uc001xpm.1_Intron|ALDH6A1_uc010tuq.2_Missense_Mutation_p.A176V|ALDH6A1_uc010asa.3_Missense_Mutation_p.A34V	NM_005589	NP_005580	Q02252	MMSA_HUMAN	Homo sapiens aldehyde dehydrogenase 6 family, member A1 (ALDH6A1), nuclear gene encoding mitochondrial protein, mRNA.	189						mitochondrial matrix|nucleus	fatty-acyl-CoA binding|malonate-semialdehyde dehydrogenase (acetylating) activity|methylmalonate-semialdehyde dehydrogenase (acylating) activity			NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(3)|skin(3)	21				BRCA - Breast invasive adenocarcinoma(234;0.00354)	NADH(DB00157)	GGGGATCATGGCAGGAAAATT	0.498000														28			20		0	0	1	0	0
ZNF71	58491	broad.mit.edu	37	19	57134091	57134091	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:57134091C>T	uc002qnm.4	+	2	1674	c.1436C>T	c.(1435-1437)aCg>aTg	p.T479M	ZNF71_uc021vcg.1_Missense_Mutation_p.T479M	NM_021216	NP_067039	Q9NQZ8	ZNF71_HUMAN	Homo sapiens zinc finger protein 71 (ZNF71), mRNA.	479						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		AGCCGCAACACGAACCTGACG	0.642000														20			9		0	0	1	0	0
ETFA	2108	broad.mit.edu	37	15	76580230	76580230	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:76580230A>G	uc002bbt.2	-	4	489	c.408T>C	c.(406-408)atT>atC	p.I136I	ETFA_uc010bkq.1_Silent_p.I87I	NM_000126	NP_000117	P13804	ETFA_HUMAN	Homo sapiens electron-transfer-flavoprotein, alpha polypeptide (ETFA), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	136					respiratory electron transport chain|transport	mitochondrial matrix	electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity			endometrium(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9						ACTTGATTGCAATGATGTCAG	0.363000														39			21		0	0	1	0	0
TP53BP1	7158	broad.mit.edu	37	15	43707815	43707815	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:43707815C>T	uc001zrs.3	-	22	5199	c.5051G>A	c.(5050-5052)cGc>cAc	p.R1684H	TP53BP1_uc010udp.2_Missense_Mutation_p.R1684H|TP53BP1_uc001zrq.4_Missense_Mutation_p.R1689H|TP53BP1_uc001zrr.4_Missense_Mutation_p.R1689H|TP53BP1_uc010udq.1_Missense_Mutation_p.R1689H|TP53BP1_uc001zrp.3_Missense_Mutation_p.R101H	NM_005657	NP_005648	Q12888	TP53B_HUMAN	Homo sapiens tumor protein p53 binding protein 1 (TP53BP1), transcript variant 3, mRNA.	1684					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity|p53 binding			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		GGCAGACTTGCGACCTCGCTT	0.498000								Other conserved DNA damage response genes						91			12		0	0	1	0	0
CCDC136	64753	broad.mit.edu	37	7	128441482	128441482	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:128441482G>A	uc003vnv.2	+	3	1005	c.589G>A	c.(589-591)Gcc>Acc	p.A197T	CCDC136_uc003vnu.2_Missense_Mutation_p.A247T|CCDC136_uc003vnx.2_Missense_Mutation_p.A13T|CCDC136_uc010llq.2_5'UTR	NM_022742	NP_073579	Q96JN2	CC136_HUMAN	Homo sapiens coiled-coil domain containing 136 (CCDC136), transcript variant 1, mRNA.	197	Glu-rich.					integral to membrane	protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						GATGGAGATCGCCTCCCTCCG	0.488000														14			12		0	0	1	0	0
PRKAA2	5563	broad.mit.edu	37	1	57161814	57161814	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:57161814C>A	uc001cyk.4	+	5	841	c.770C>A	c.(769-771)gCa>gAa	p.A257E		NM_006252	NP_006243	P54646	AAPK2_HUMAN	Homo sapiens protein kinase, AMP-activated, alpha 2 catalytic subunit (PRKAA2), mRNA.	257	Protein kinase.				carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding			breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23						CTGAAACGAGCAACTATCAAA	0.378000														228			18		1.67942e-08	1.97205e-08	1	1	0
ARHGEF6	9459	broad.mit.edu	37	X	135750301	135750301	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:135750301C>T	uc004fab.3	-	21	2680	c.2218G>A	c.(2218-2220)Gaa>Aaa	p.E740K	ARHGEF6_uc011mwd.2_Missense_Mutation_p.E613K|ARHGEF6_uc011mwe.2_Missense_Mutation_p.E586K	NM_004840	NP_004831	Q15052	ARHG6_HUMAN	Homo sapiens Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6 (ARHGEF6), mRNA.	740					JNK cascade|apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					AGTTCTTCTTCCAGGCATTGC	0.473000														97			37		0	0	1	0	0
RAP1GAP	5909	broad.mit.edu	37	1	21946512	21946512	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:21946512A>G	uc001bev.3	-	0	32	c.14T>C	c.(13-15)aTg>aCg	p.M5T	RAP1GAP_uc001bew.3_Missense_Mutation_p.M69T|RAP1GAP_uc001bey.3_Missense_Mutation_p.M5T|RAP1GAP_uc001bex.3_Missense_Mutation_p.M5T|RAP1GAP_uc001bez.1_Missense_Mutation_p.M36T	NM_001145657	NP_001139129	P47736	RPGP1_HUMAN	Homo sapiens RAP1 GTPase activating protein (RAP1GAP), transcript variant 2, mRNA.	5	GoLoco.				regulation of Ras GTPase activity|signal transduction	Golgi membrane|cytosol|membrane fraction	GTPase activator activity|GTPase activity|Ras GTPase binding|protein homodimerization activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)		CCTCACCTGCATCTTCTCAAT	0.617000														38			14		0	0	1	0	0
GSN	2934	broad.mit.edu	37	9	124079496	124079496	+	Splice_Site	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:124079496G>A	uc004blf.1	+	7	1100	c.1039_splice	c.e7+1	p.G347_splice	GSN_uc004bld.1_Splice_Site_p.G296_splice|GSN_uc010mvr.1_Splice_Site_p.G307_splice|GSN_uc010mvq.1_Splice_Site_p.G307_splice|GSN_uc010mvu.1_Splice_Site_p.G296_splice|GSN_uc010mvt.1_Splice_Site_p.G296_splice|GSN_uc010mvs.1_Splice_Site_p.G296_splice|GSN_uc004ble.1_Splice_Site_p.G296_splice|GSN_uc010mvv.1_Splice_Site_p.G296_splice|GSN_uc011lyh.1_Splice_Site_p.G313_splice|GSN_uc011lyi.1_Splice_Site_p.G296_splice|GSN_uc011lyj.1_Splice_Site_p.G320_splice|GSN_uc004blg.1_Splice_Site_p.G78_splice	NM_000177	NP_000168	P06396	GELS_HUMAN	Homo sapiens gelsolin (GSN), transcript variant 1, mRNA.	347					actin filament polymerization|actin filament severing|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|cilium morphogenesis	actin cytoskeleton|cytosol	actin binding|calcium ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						TGTCTGGAAAGGTACTGGAGA	0.577000														96			47		0	0	1	0	0
MUM1L1	139221	broad.mit.edu	37	X	105450704	105450704	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:105450704G>A	uc022cca.1	+	0	1279	c.1279G>A	c.(1279-1281)Gca>Aca	p.A427T	MUM1L1_uc004emg.2_Missense_Mutation_p.A427T|MUM1L1_uc004emf.2_Missense_Mutation_p.A427T	NM_001171020	NP_001164491	Q5H9M0	MUML1_HUMAN	Homo sapiens melanoma associated antigen (mutated) 1-like 1 (MUM1L1), transcript variant 1, mRNA.	427	PWWP.							p.E426K(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						TTTTGTTGAGGCAAACATGAA	0.338000														16			13		0	0	1	0	0
C1orf86	199990	broad.mit.edu	37	1	2125253	2125253	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:2125253G>A	uc001aix.2	-	6	1055	c.282C>T	c.(280-282)gcC>gcT	p.A94A	C1orf86_uc001aiv.2_Non-coding_Transcript|C1orf86_uc001aiw.2_Non-coding_Transcript|C1orf86_uc001aiy.3_Missense_Mutation_p.R99C	NM_001146310	NP_001139782	Q6NZ36	CA086_HUMAN	Homo sapiens chromosome 1 open reading frame 86 (C1orf86), transcript variant 1, mRNA.	73										central_nervous_system(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4	all_cancers(77;0.000134)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.09e-37)|OV - Ovarian serous cystadenocarcinoma(86;1.5e-23)|GBM - Glioblastoma multiforme(42;1.61e-08)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00437)|STAD - Stomach adenocarcinoma(132;0.0134)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		CGGTAGGAACGGCCCGGGCCC	0.706000														25			18		0	0	1	0	0
ACOT11	26027	broad.mit.edu	37	1	55069583	55069583	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:55069583C>A	uc001cxm.2	+	10	1301	c.1125C>A	c.(1123-1125)ctC>ctA	p.L375L	ACOT11_uc001cxj.2_Silent_p.L253L|ACOT11_uc001cxl.2_Silent_p.L375L	NM_015547	NP_056362	Q8WXI4	ACO11_HUMAN	Homo sapiens acyl-CoA thioesterase 11 (ACOT11), transcript variant 1, mRNA.	375	START.				fatty acid metabolic process|intracellular signal transduction|response to cold		acyl-CoA thioesterase activity|carboxylesterase activity			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1)	17						AGGTGCCCCTCTCCGTCCCCT	0.587000														93			7		0.00198382	0.00208369	1	1	0
SLC6A20	54716	broad.mit.edu	37	3	45817434	45817434	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:45817434C>T	uc011bai.2	-	3	525	c.401G>A	c.(400-402)gGc>gAc	p.G134D	SLC6A20_uc011baj.2_Missense_Mutation_p.G134D	NM_020208	NP_064593	Q9NP91	S6A20_HUMAN	Homo sapiens solute carrier family 6 (proline IMINO transporter), member 20 (SLC6A20), transcript variant 1, mRNA.	134					cellular nitrogen compound metabolic process|glycine transport|proline transport	apical plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		CTCATCGTAGCCCGTGTGGTT	0.567000														85			15		0	0	1	0	0
FAM219A	203259	broad.mit.edu	37	9	34400979	34400979	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:34400979C>T	uc011lok.2	-	5	848	c.541G>A	c.(541-543)Gcc>Acc	p.A181T	FAM219A_uc003zuj.3_Missense_Mutation_p.A164T|FAM219A_uc011lol.2_Missense_Mutation_p.A169T|FAM219A_uc003zul.3_Missense_Mutation_p.A152T|FAM219A_uc022bgc.1_Missense_Mutation_p.A180T|FAM219A_uc022bgd.1_Missense_Mutation_p.A163T|FAM219A_uc003zuk.3_Missense_Mutation_p.A153T	NM_001184940	NP_001171869	Q8IW50	CI025_HUMAN	Homo sapiens chromosome 9 open reading frame 25 (C9orf25), transcript variant 1, mRNA.	181																	ATGTGGCAGGCGGTGGAGGAC	0.697000														7			5		0	0	1	0	0
IMMT	10989	broad.mit.edu	37	2	86378642	86378642	+	Splice_Site	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:86378642A>G	uc002sqz.4	-	12	1566	c.1178_splice	c.e12-1	p.A393_splice	IMMT_uc002sqy.4_Splice_Site_p.A134_splice|IMMT_uc010yte.2_Splice_Site_p.A346_splice|IMMT_uc002srb.4_Splice_Site_p.A382_splice|IMMT_uc002sra.4_Splice_Site_p.A392_splice|IMMT_uc010ytd.2_Splice_Site_p.A381_splice|IMMT_uc002src.1_Splice_Site_p.T129_splice	NM_006839	NP_006830	Q16891	IMMT_HUMAN	Homo sapiens inner membrane protein, mitochondrial (IMMT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	393				SVSDLA -> T (in Ref. 9; AAF73126).		integral to mitochondrial inner membrane	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						AGAGCTTGTCAGCTAAGCAAA	0.388000														25			4		0	0	1	0	0
MYL6	4637	broad.mit.edu	37	12	56555180	56555180	+	Missense_Mutation	SNP	G	A	A	rs112034060		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56555180G>A	uc001sjx.2	+	5	578	c.437G>A	c.(436-438)cGc>cAc	p.R146H	MYL6_uc001sjw.2_3'UTR|MYL6_uc010sqe.2_3'UTR	NM_079423	NP_524147	P60660	MYL6_HUMAN	Homo sapiens myosin, light chain 6, alkali, smooth muscle and non-muscle (MYL6), transcript variant 2, mRNA.	146	EF-hand 3.				axon guidance|muscle filament sliding|skeletal muscle tissue development	cytosol|unconventional myosin complex	actin-dependent ATPase activity|calcium ion binding|motor activity|structural constituent of muscle			large_intestine(1)|lung(1)|ovary(1)|prostate(3)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(18;0.0979)			GAGCTCGTCCGCATGGTGCTG	0.552000														51			28		0	0	1	0	0
DCX	1641	broad.mit.edu	37	X	110653599	110653599	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:110653599C>T	uc004epd.3	-	1	443	c.271G>A	c.(271-273)Gaa>Aaa	p.E91K	DCX_uc011msv.2_Missense_Mutation_p.E91K|DCX_uc004epe.3_Missense_Mutation_p.E10K|DCX_uc004epf.3_Missense_Mutation_p.E10K|DCX_uc004epg.3_Missense_Mutation_p.E10K	NM_000555	NP_835366	O43602	DCX_HUMAN	Homo sapiens doublecortin (DCX), transcript variant 1, mRNA.	91					axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						TTATCTCTTTCGTCAAAGTGT	0.507000														111			10		0	0	1	0	0
COBL	23242	broad.mit.edu	37	7	51096641	51096641	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:51096641G>A	uc003tps.3	-	10	2508	c.2323C>T	c.(2323-2325)Cga>Tga	p.R775*	COBL_uc003tpr.4_Nonsense_Mutation_p.R718*|COBL_uc011kcl.2_Nonsense_Mutation_p.R718*|COBL_uc003tpp.4_Nonsense_Mutation_p.R504*|COBL_uc003tpq.4_Nonsense_Mutation_p.R659*|COBL_uc003tpo.4_Nonsense_Mutation_p.R260*	NM_015198	NP_056013	O75128	COBL_HUMAN	Homo sapiens cordon-bleu homolog (mouse) (COBL), mRNA.	718								p.R718*(1)		NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					TCGTAACATCGCATCTCTGAC	0.507000														43			26		0	0	1	0	0
ZNF829	374899	broad.mit.edu	37	19	37383201	37383201	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:37383201G>T	uc021utr.1	-	5	802	c.735C>A	c.(733-735)acC>acA	p.T245T	ZNF345_uc002oez.2_Intron|ZNF829_uc002ofa.2_Silent_p.T164T	NM_001171979	NP_001165450	Q3KNS6	ZN829_HUMAN	Homo sapiens zinc finger protein 829 (ZNF829), transcript variant 1, mRNA.	164					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTTGATTAAAGGTCTTTCCAC	0.363000														18			9		1.12685e-05	1.25391e-05	1	1	0
COL3A1	1281	broad.mit.edu	37	2	189868847	189868847	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:189868847C>T	uc002uqj.1	+	38	2918	c.2801C>T	c.(2800-2802)tCg>tTg	p.S934L		NM_000090	NP_000081	P02461	CO3A1_HUMAN	Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA.	934	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	p.S934S(1)		NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	GAGAAGGGATCGCCTGGTGCC	0.488000														26			13		0	0	1	0	0
PDE4C	5143	broad.mit.edu	37	19	18329299	18329299	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:18329299G>T	uc010xqc.2	-	9	1555	c.1075C>A	c.(1075-1077)Ctg>Atg	p.L359M	PDE4C_uc002nik.4_Missense_Mutation_p.L359M|PDE4C_uc002nil.4_Missense_Mutation_p.L359M|PDE4C_uc002nig.4_Intron|PDE4C_uc002nih.4_Missense_Mutation_p.L129M|PDE4C_uc010ebk.3_Missense_Mutation_p.L253M|PDE4C_uc002nii.4_Missense_Mutation_p.L327M|PDE4C_uc002nif.4_Missense_Mutation_p.L128M|PDE4C_uc010ebl.3_Missense_Mutation_p.L73M	NM_001098819	NP_001092289	Q08493	PDE4C_HUMAN	Homo sapiens phosphodiesterase 4C, cAMP-specific (PDE4C), transcript variant 2, mRNA.	359					signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Dyphylline(DB00651)	GTCTTCAGCAGGTCCCGCTCC	0.582000														87			9		7.48243e-07	8.52591e-07	1	1	0
NAT10	55226	broad.mit.edu	37	11	34160752	34160752	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:34160752A>G	uc001mvk.3	+	21	2470	c.2226A>G	c.(2224-2226)ggA>ggG	p.G742G	NAT10_uc010ren.2_Silent_p.G670G	NM_024662	NP_078938	Q9H0A0	NAT10_HUMAN	Homo sapiens N-acetyltransferase 10 (GCN5-related) (NAT10), transcript variant 1, mRNA.	742	N-acetyltransferase.|Required for localization to the nucleolus and midbody.					nucleolus	ATP binding|N-acetyltransferase activity|protein binding			endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)				ACCTGACCGGAGAGCACTCGT	0.517000														90			8		0	0	1	0	0
TRIM5	85363	broad.mit.edu	37	11	5688922	5688922	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:5688922T>G	uc001mbm.2	-	4	1067	c.764A>C	c.(763-765)aAa>aCa	p.K255T	TRIM5_uc001mbl.2_Intron|TRIM5_uc001mbn.3_Missense_Mutation_p.K255T|TRIM5_uc001mbp.3_Missense_Mutation_p.K255T	NM_033034	NP_149023	Q9C035	TRIM5_HUMAN	Homo sapiens tripartite motif containing 5 (TRIM5), transcript variant alpha, mRNA.	255					interspecies interaction between organisms|protein trimerization|response to virus	cytoplasm|cytoplasmic mRNA processing body	ligase activity|protein binding|protein homodimerization activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)		CACATACCTTTTTATGACGCC	0.408000														47			25		0	0	1	0	0
NR2C1	7181	broad.mit.edu	37	12	95452161	95452161	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:95452161T>C	uc001tdm.4	-	4	725	c.469A>G	c.(469-471)Att>Gtt	p.I157V	NR2C1_uc010suu.1_Missense_Mutation_p.I157V|NR2C1_uc001tdn.4_Missense_Mutation_p.I157V|NR2C1_uc001tdo.4_Missense_Mutation_p.I157V	NM_003297	NP_003288	P13056	NR2C1_HUMAN	Homo sapiens nuclear receptor subfamily 2, group C, member 1 (NR2C1), transcript variant 1, mRNA.	157	Required for interaction with KAT2B (By similarity).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	PML body	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13						TGCTTATTAATAATACAATCC	0.358000														47			30		0	0	1	0	0
C1orf112	55732	broad.mit.edu	37	1	169773305	169773305	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:169773305G>A	uc001ggq.3	+	5	1102	c.402G>A	c.(400-402)caG>caA	p.Q134Q	C1orf112_uc001ggj.3_Non-coding_Transcript|C1orf112_uc001ggo.3_Silent_p.Q134Q|C1orf112_uc001ggp.3_Silent_p.Q134Q|C1orf112_uc009wvt.3_5'UTR|C1orf112_uc010plu.1_Silent_p.Q105Q|C1orf112_uc009wvu.1_Silent_p.Q105Q|C1orf112_uc001ggr.3_5'UTR|C1orf112_uc010plv.2_Silent_p.Q76Q	NM_018186	NP_060656	Q9NSG2	CA112_HUMAN	Homo sapiens chromosome 1 open reading frame 112 (C1orf112), mRNA.	134										breast(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|stomach(1)	34	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TTCAAAAGCAGTTAATGGAAC	0.393000														78			69		0	0	1	0	0
TEP1	7011	broad.mit.edu	37	14	20845586	20845586	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:20845586T>C	uc001vxe.3	-	40	5981	c.5941A>G	c.(5941-5943)Aag>Gag	p.K1981E	TEP1_uc010ahk.3_Missense_Mutation_p.K1324E|TEP1_uc010tlf.1_Non-coding_Transcript|TEP1_uc010tlg.1_Missense_Mutation_p.K1873E|TEP1_uc010tlh.1_Missense_Mutation_p.K319E	NM_007110	NP_009041	Q99973	TEP1_HUMAN	Homo sapiens telomerase-associated protein 1 (TEP1), mRNA.	1981					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		ACCAATACCTTGGGGCTTAGC	0.582000														34			20		0	0	1	0	0
SBF1	6305	broad.mit.edu	37	22	50898014	50898014	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:50898014G>A	uc003blh.3	-	26	3768	c.3573C>T	c.(3571-3573)cgC>cgT	p.R1191R	SBF1_uc011arx.2_Silent_p.R855R	NM_002972	NP_002963	O95248	MTMR5_HUMAN	Homo sapiens SET binding factor 1 (SBF1), mRNA.	1191	Myotubularin phosphatase.				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		CCACGGGGAAGCGGTTCTGGC	0.682000														18			11		0	0	1	0	0
GXYLT1	283464	broad.mit.edu	37	12	42491368	42491368	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:42491368C>T	uc001rms.4	-	6	1262	c.1037G>A	c.(1036-1038)tGt>tAt	p.C346Y	GXYLT1_uc001rmt.4_Missense_Mutation_p.C315Y	NM_173601	NP_775872	Q4G148	GXLT1_HUMAN	Homo sapiens glucoside xylosyltransferase 1 (GXYLT1), transcript variant 1, mRNA.	346					O-glycan processing	integral to membrane	UDP-xylosyltransferase activity	p.H345H(1)		kidney(2)|large_intestine(4)|liver(3)|lung(8)	17						TCCATATATACAATGATCTGG	0.373000														84			44		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141665541	141665541	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:141665541G>T	uc002tvj.1	-	21	4397	c.3425C>A	c.(3424-3426)cCt>cAt	p.P1142H	LRP1B_uc010fnl.1_Missense_Mutation_p.P324H	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	1142	LDL-receptor class A 10.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATTAGCACAAGGATGCTTGGG	0.463000										TSP Lung(27;0.18)				109			13		0.00185496	0.0019572	1	1	0
MYT1	4661	broad.mit.edu	37	20	62854528	62854528	+	Splice_Site	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:62854528T>C	uc002yii.3	+	15	2823	c.2459_splice	c.e15+2	p.S820_splice	MYT1_uc002yih.3_Splice_Site_p.R522_splice|MYT1_uc002yij.3_Splice_Site_p.S479_splice	NM_004535	NP_004526	Q01538	MYT1_HUMAN	Homo sapiens myelin transcription factor 1 (MYT1), mRNA.	820					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					CCACCGCAGGTTTGTCTCCTG	0.612000														174			9		0	0	1	0	0
AP1G1	164	broad.mit.edu	37	16	71768515	71768515	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:71768515C>T	uc010cgg.3	-	21	2678	c.2364G>A	c.(2362-2364)caG>caA	p.Q788Q	AP1G1_uc021tkz.1_Silent_p.Q576Q|AP1G1_uc002fbb.3_Silent_p.Q811Q|AP1G1_uc002faz.3_Silent_p.Q205Q|AP1G1_uc021tky.1_Silent_p.Q791Q	NM_001128	NP_001119	O43747	AP1G1_HUMAN	Homo sapiens adaptor-related protein complex 1, gamma 1 subunit (AP1G1), transcript variant 2, mRNA.	788	GAE.				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	Golgi membrane|clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|lysosomal membrane|recycling endosome	kinesin binding|protein transporter activity			breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1)	28		Ovarian(137;0.125)				TACTCACCTTCTGAGGGTTCA	0.428000														210			145		0	0	1	0	0
GPR161	23432	broad.mit.edu	37	1	168065970	168065970	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:168065970G>T	uc010pln.2	-	3	1469	c.935C>A	c.(934-936)tCt>tAt	p.S312Y	GPR161_uc001gfb.3_Missense_Mutation_p.S160Y|GPR161_uc001gfc.3_Missense_Mutation_p.S292Y|GPR161_uc010pll.2_Missense_Mutation_p.S202Y|GPR161_uc010plm.2_Missense_Mutation_p.S178Y|GPR161_uc009wvo.3_Missense_Mutation_p.S309Y|GPR161_uc001gfd.3_Missense_Mutation_p.S292Y|GPR161_uc001gfe.1_Missense_Mutation_p.S292Y	NM_153832	NP_722561	Q8N6U8	GP161_HUMAN	Homo sapiens G protein-coupled receptor 161 (GPR161), transcript variant 2, mRNA.	292					multicellular organismal development	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	all_hematologic(923;0.215)					GAGGGCCTCAGAGGCGATGAC	0.617000														73			6		3.59834e-05	3.95114e-05	1	1	0
ULBP2	80328	broad.mit.edu	37	6	150267536	150267536	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:150267536T>C	uc003qno.3	+	2	451	c.378T>C	c.(376-378)tcT>tcC	p.S126S	ULBP2_uc011eeh.1_Silent_p.S126S|ULBP2_uc010kij.3_Silent_p.S126S	NM_025217	NP_079493	Q9BZM5	N2DL2_HUMAN	Homo sapiens UL16 binding protein 2 (ULBP2), mRNA.	126	MHC class I alpha-2 like.				antigen processing and presentation|immune response|natural killer cell activation|regulation of immune response	MHC class I protein complex|anchored to membrane|cell surface|extracellular space	MHC class I receptor activity			breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	10		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.58e-12)		CAAGGATGTCTTGTGAGCAGA	0.498000														92			10		0	0	1	0	0
ZC3H12C	85463	broad.mit.edu	37	11	110030072	110030072	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:110030072C>T	uc010rwc.2	+	3	1008	c.1008C>T	c.(1006-1008)gaC>gaT	p.D336D	ZC3H12C_uc009yxw.3_Silent_p.D335D|ZC3H12C_uc010rwd.2_Silent_p.D336D|ZC3H12C_uc001pkr.4_Silent_p.D304D|ZC3H12C_uc001pkq.2_Silent_p.D304D	NM_033390	NP_203748	Q9C0D7	ZC12C_HUMAN	Homo sapiens zinc finger CCCH-type containing 12C (ZC3H12C), mRNA.	335							endonuclease activity|nucleic acid binding|zinc ion binding	p.D336N(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)		TGTGCTATGACGACAGGTTCA	0.473000														12			8		0	0	1	0	0
TCF20	6942	broad.mit.edu	37	22	42608017	42608017	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:42608017C>A	uc003bcj.1	-	0	3429	c.3295G>T	c.(3295-3297)Gac>Tac	p.D1099Y	TCF20_uc003bck.1_Missense_Mutation_p.D1099Y	NM_005650	NP_005641	Q9UGU0	TCF20_HUMAN	Homo sapiens transcription factor 20 (AR1) (TCF20), transcript variant 1, mRNA.	1099					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						CTGCTCCAGTCTTTATACTCC	0.512000														55			11		3.07112e-06	3.45634e-06	1	1	0
APBB1	322	broad.mit.edu	37	11	6432274	6432274	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6432274C>T	uc001mdb.1	-	1	404	c.304G>A	c.(304-306)Gag>Aag	p.E102K	APBB1_uc001mdc.1_Missense_Mutation_p.E102K|APBB1_uc010rah.1_Intron	NM_001164	NP_001155	O00213	APBB1_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65) (APBB1), transcript variant 1, mRNA.	102					apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		ATCTCAGGCTCCTGGCTGGCC	0.637000														296			23		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9089734	9089734	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9089734G>A	uc002mkp.3	-	0	2285	c.2081C>T	c.(2080-2082)aCc>aTc	p.T694I		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	694	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						TCCCAGGCTGGTTCCTTCCCT	0.498000														53			28		0	0	1	0	0
PALMD	54873	broad.mit.edu	37	1	100127886	100127886	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:100127886A>C	uc001dsg.3	+	1	500	c.57A>C	c.(55-57)aaA>aaC	p.K19N		NM_017734	NP_060204	Q9NP74	PALMD_HUMAN	Homo sapiens palmdelphin (PALMD), mRNA.	19					regulation of cell shape	cytoplasm|membrane				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(6)|pancreas(1)|prostate(2)	31		all_epithelial(167;0.000813)|all_lung(203;0.0214)|Lung NSC(277;0.0216)		Epithelial(280;0.067)|all cancers(265;0.117)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)		ATAAAAGAAAAATACAGGAAG	0.313000														49			4		0	0	1	0	0
ADCY3	109	broad.mit.edu	37	2	25057802	25057802	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:25057802C>T	uc010ykm.2	-	8	1865	c.1666G>A	c.(1666-1668)Gac>Aac	p.D556N	ADCY3_uc002rfr.4_Missense_Mutation_p.D189N|ADCY3_uc002rfs.4_Missense_Mutation_p.D556N	NM_004036	NP_004027	O60266	ADCY3_HUMAN	Homo sapiens adenylate cyclase 3 (ADCY3), mRNA.	556					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					GAGGGGTTGTCGGCCTGTGAG	0.617000														8			9		0	0	1	0	0
PLOD1	5351	broad.mit.edu	37	1	12025566	12025566	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:12025566C>T	uc010obb.2	+	14	1754	c.1641C>T	c.(1639-1641)caC>caT	p.H547H	PLOD1_uc001atm.3_Silent_p.H500H	NM_000302	NP_000293	Q02809	PLOD1_HUMAN	Homo sapiens procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 (PLOD1), mRNA.	500					epidermis development|hydroxylysine biosynthetic process|protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein homodimerization activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	Minoxidil(DB00350)|Succinic acid(DB00139)|Vitamin C(DB00126)	CCAACCGGCACACCCTTGGCC	0.667000														27			21		0	0	1	0	0
HTR5A	3361	broad.mit.edu	37	7	154863210	154863210	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:154863210G>A	uc003wlu.1	+	0	665	c.601G>A	c.(601-603)Gcc>Acc	p.A201T	LOC100128264_uc003wlt.2_5'UTR|LOC100128264_uc011kvt.1_5'UTR	NM_024012	NP_076917	P47898	5HT5A_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 5A (HTR5A), mRNA.	201						integral to plasma membrane	serotonin receptor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		GCCTTCCTACGCCGTGTTCTC	0.612000														26			9		0	0	1	0	0
NUP88	4927	broad.mit.edu	37	17	5322786	5322786	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:5322786A>G	uc010vsx.2	-	0	274	c.185T>C	c.(184-186)tTt>tCt	p.F62S	NUP88_uc002gbo.2_Missense_Mutation_p.F62S|NUP88_uc010cle.2_Missense_Mutation_p.F62S|NUP88_uc010vsy.2_Missense_Mutation_p.F62S|RPAIN_uc010vsz.1_5'Flank|RPAIN_uc002gbp.1_5'Flank|RPAIN_uc010vta.1_5'Flank|RPAIN_uc002gbq.2_5'Flank|RPAIN_uc010vtb.1_5'Flank|RPAIN_uc002gbs.2_5'Flank|RPAIN_uc002gbt.2_5'Flank|RPAIN_uc002gbu.2_5'Flank|RPAIN_uc002gbv.2_5'Flank|RPAIN_uc002gbr.2_5'Flank|RPAIN_uc002gbw.2_5'Flank	NM_002532	NP_002523	Q99567	NUP88_HUMAN	Homo sapiens nucleoporin 88kDa (NUP88), mRNA.	62					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	transporter activity			endometrium(4)|kidney(4)|large_intestine(4)|lung(3)	15						GCCGAGGCCAAAGACCACGTT	0.622000														88			9		0	0	1	0	0
CD37	951	broad.mit.edu	37	19	49840409	49840409	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:49840409T>C	uc002pnd.3	+	3	394	c.273T>C	c.(271-273)ttT>ttC	p.F91F	AK097351_uc002pnb.1_Intron|CD37_uc002pnc.3_Non-coding_Transcript|CD37_uc010yam.1_Silent_p.F91F|CD37_uc010yan.1_Silent_p.F23F|CD37_uc002pnf.3_Silent_p.F63F|CD37_uc002pne.3_Silent_p.F23F	NM_001774	NP_001035120	P11049	CD37_HUMAN	Homo sapiens CD37 molecule (CD37), transcript variant 1, mRNA.	91						integral to membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	11		all_lung(116;2.81e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00088)|GBM - Glioblastoma multiforme(486;0.0443)		CCCAGTATTTTGGGATGCTGC	0.607000														53			5		0	0	1	0	0
FAM154A	158297	broad.mit.edu	37	9	18928081	18928081	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:18928081G>T	uc003zni.2	-	3	1744	c.1394C>A	c.(1393-1395)cCc>cAc	p.P465H	FAM154A_uc010mip.2_Missense_Mutation_p.P273H	NM_153707	NP_714918	Q8IYX7	F154A_HUMAN	Homo sapiens family with sequence similarity 154, member A (FAM154A), mRNA.	465										breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|skin(1)	26				GBM - Glioblastoma multiforme(50;6.53e-16)		CCTCTGGTTGGGGTTTTCTGA	0.403000														74			54		7.10676e-39	9.44072e-39	1	1	0
TMEM132D	121256	broad.mit.edu	37	12	130185167	130185167	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:130185167G>A	uc009zyl.1	-	1	484	c.156C>T	c.(154-156)caC>caT	p.H52H		NM_133448	NP_597705	Q14C87	T132D_HUMAN	Homo sapiens transmembrane protein 132D (TMEM132D), mRNA.	52						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		CGTTGTTGATGTGGTAGGTCA	0.557000														25			14		0	0	1	0	0
DEGS2	123099	broad.mit.edu	37	14	100615992	100615992	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:100615992C>T	uc001ygx.2	-	1	226	c.138G>A	c.(136-138)gcG>gcA	p.A46A		NM_206918	NP_996801	Q6QHC5	DEGS2_HUMAN	Homo sapiens delta(4)-desaturase, sphingolipid 2 (DEGS2), mRNA.	46					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	sphingosine hydroxylase activity			breast(1)|lung(6)|skin(1)	8		Melanoma(154;0.212)				GCACCAGCACCGCCCACTTGA	0.692000														11			12		0	0	1	0	0
PRICKLE2	166336	broad.mit.edu	37	3	64145736	64145736	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:64145736G>A	uc003dmf.3	-	3	862	c.276C>T	c.(274-276)tcC>tcT	p.S92S		NM_198859	NP_942559	Q7Z3G6	PRIC2_HUMAN	Homo sapiens prickle homolog 2 (Drosophila) (PRICKLE2), mRNA.	92	PET.					cytoplasm|nuclear membrane	zinc ion binding			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		CCTCATCCAGGGAGTTGCAAT	0.493000														59			38		0	0	1	0	0
FN3KRP	79672	broad.mit.edu	37	17	80684939	80684939	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:80684939G>A	uc002kfu.3	+	5	872	c.822G>A	c.(820-822)gaG>gaA	p.E274E	FN3KRP_uc010wvr.2_Silent_p.E224E	NM_024619	NP_078895	Q9HA64	KT3K_HUMAN	Homo sapiens fructosamine 3 kinase related protein (FN3KRP), mRNA.	274							kinase activity			breast(1)|large_intestine(2)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	7	Breast(20;0.000523)|all_neural(118;0.0952)		BRCA - Breast invasive adenocarcinoma(99;0.0344)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			CAGGATTCGAGAAGCGCCTTC	0.507000														45			34		0	0	1	0	0
PPT2	9374	broad.mit.edu	37	6	32130594	32130594	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:32130594G>A	uc003nzw.3	+	8	969	c.794G>A	c.(793-795)cGg>cAg	p.R265Q	PPT2_uc003nzx.3_Missense_Mutation_p.R259Q|PPT2_uc003nzz.3_Missense_Mutation_p.R259Q|PPT2_uc021yvl.1_Intron|EGFL8_uc003nzy.2_Intron|PPT2_uc010jtu.1_Intron|EGFL8_uc003oab.1_5'Flank|EGFL8_uc003oac.1_5'Flank	NM_138717	NP_005146	Q9UMR5	PPT2_HUMAN	Homo sapiens palmitoyl-protein thioesterase 2 (PPT2), transcript variant 2, mRNA.	259					protein modification process	lysosome	palmitoyl-(protein) hydrolase activity	p.R265L(4)		NS(1)|endometrium(2)|large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1)	17						GTTTATCTGCGGGATTCTTTT	0.557000														95			79		0	0	1	0	0
DOCK7	85440	broad.mit.edu	37	1	63119776	63119776	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:63119776G>A	uc001daq.3	-	2	233	c.199C>T	c.(199-201)Cat>Tat	p.H67Y	DOCK7_uc001dan.3_5'Flank|DOCK7_uc001dao.3_5'Flank|DOCK7_uc001dap.3_Missense_Mutation_p.H67Y|DOCK7_uc009wah.1_Missense_Mutation_p.H67Y	NM_033407	NP_212132	Q96N67	DOCK7_HUMAN	Homo sapiens dedicator of cytokinesis 7 (DOCK7), mRNA.	67					activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|Rac GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						GCCAAAGGATGAGTAATGAGG	0.428000														27			20		0	0	1	0	0
PLXNB1	5364	broad.mit.edu	37	3	48459659	48459659	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:48459659C>T	uc003csw.2	-	14	3433	c.3163G>A	c.(3163-3165)Gag>Aag	p.E1055K	PLXNB1_uc003csu.2_Missense_Mutation_p.E872K|PLXNB1_uc003csx.2_Missense_Mutation_p.E1055K|PLXNB1_uc010hjx.1_Non-coding_Transcript|PLXNB1_uc003csy.1_5'Flank	NM_002673	NP_002664	O43157	PLXB1_HUMAN	Homo sapiens plexin B1 (PLXNB1), transcript variant 1, mRNA.	1055					axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CCACAGGCCTCCCGGGTCACA	0.637000														13			11		0	0	1	0	0
CCDC33	80125	broad.mit.edu	37	15	74565141	74565141	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:74565141C>T	uc002axo.3	+	6	1062	c.668C>T	c.(667-669)tCt>tTt	p.S223F	CCDC33_uc002axp.3_Missense_Mutation_p.S45F	NM_025055	NP_079331	Q8N5R6	CCD33_HUMAN	Homo sapiens coiled-coil domain containing 33 (CCDC33), transcript variant 1, mRNA.	426							protein binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						GACCTGGCCTCTGTGGGGCTG	0.652000														24			14		0	0	1	0	0
LYPD4	147719	broad.mit.edu	37	19	42341267	42341267	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:42341267C>A	uc002orp.1	-	4	1675	c.691G>T	c.(691-693)Gat>Tat	p.D231Y	LYPD4_uc002orq.1_Missense_Mutation_p.D196Y	NM_173506	NP_775777	Q6UWN0	LYPD4_HUMAN	Homo sapiens LY6/PLAUR domain containing 4 (LYPD4), mRNA.	231						anchored to membrane|plasma membrane				breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)	12						CAAGCAGGATCTTGCCTGGAG	0.478000														99			9		1.76689e-08	2.07166e-08	1	1	0
SCFD1	23256	broad.mit.edu	37	14	31139478	31139478	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:31139478G>T	uc001wqm.1	+	10	896	c.872G>T	c.(871-873)aGg>aTg	p.R291M	SCFD1_uc001wqn.1_Missense_Mutation_p.R224M|SCFD1_uc010tpg.1_Missense_Mutation_p.R232M|SCFD1_uc010tph.1_Missense_Mutation_p.R106M|SCFD1_uc010amf.1_Missense_Mutation_p.R106M|SCFD1_uc010tpi.1_Missense_Mutation_p.R199M|SCFD1_uc010amd.1_Missense_Mutation_p.R123M	NM_016106	NP_057190	Q8WVM8	SCFD1_HUMAN	Homo sapiens sec1 family domain containing 1 (SCFD1), transcript variant 1, mRNA.	291					post-Golgi vesicle-mediated transport|protein transport|regulation of ER to Golgi vesicle-mediated transport|response to toxin|retrograde vesicle-mediated transport, Golgi to ER|vesicle docking involved in exocytosis	Golgi cisterna membrane|Golgi-associated vesicle|cis-Golgi network|endoplasmic reticulum membrane|plasma membrane	syntaxin-5 binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)	13	Hepatocellular(127;0.0877)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)	GBM - Glioblastoma multiforme(265;0.0181)		CATTTAAACAGGGTTAATTTG	0.333000														210			13		7.03913e-09	8.30711e-09	1	1	0
UNC13B	10497	broad.mit.edu	37	9	35381199	35381199	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:35381199C>T	uc003zwr.3	+	17	2523	c.2231C>T	c.(2230-2232)aCa>aTa	p.T744I	UNC13B_uc003zwq.3_Missense_Mutation_p.T744I	NM_006377	NP_006368	O14795	UN13B_HUMAN	Homo sapiens unc-13 homolog B (C. elegans) (UNC13B), mRNA.	744					excretion|induction of apoptosis|intracellular signal transduction	Golgi apparatus|cell junction|synapse	metal ion binding|receptor activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			GTGCAGTATACATGTCTCCAT	0.527000														12			6		0	0	1	0	0
DEAF1	10522	broad.mit.edu	37	11	686916	686916	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:686916C>T	uc001lqq.1	-	4	1439	c.746G>A	c.(745-747)aGt>aAt	p.S249N	DEAF1_uc009ycf.1_Non-coding_Transcript|DEAF1_uc021qbn.1_Intron	NM_021008	NP_066288	O75398	DEAF1_HUMAN	Homo sapiens deformed epidermal autoregulatory factor 1 (Drosophila) (DEAF1), mRNA.	249	SAND.				embryonic skeletal system development|germ cell development|neural tube closure|regulation of mammary gland epithelial cell proliferation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|extracellular region|nucleus	protein binding|zinc ion binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075)		CCAGTCCTTACTGCTGGCTCT	0.602000														39			5		0	0	1	0	0
KCNB2	9312	broad.mit.edu	37	8	73849975	73849975	+	Silent	SNP	T	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:73849975T>A	uc003xzb.3	+	2	2973	c.2385T>A	c.(2383-2385)ccT>ccA	p.P795P		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	795					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			AACTGTTCCCTTTCTCTTCAA	0.552000														43			5		0	0	1	0	0
SCGB1A1	7356	broad.mit.edu	37	11	62189789	62189789	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:62189789C>A	uc001ntj.3	+	1	213	c.152C>A	c.(151-153)cCt>cAt	p.P51H		NM_003357	NP_003348	P11684	UTER_HUMAN	Homo sapiens secretoglobin, family 1A, member 1 (uteroglobin) (SCGB1A1), mRNA.	51					embryo implantation|signal transduction	extracellular region	binding|phospholipase A2 inhibitor activity			lung(1)	1						CTTTTCAGCCCTGATCAAGAC	0.547000														66			11		2.80697e-09	3.3309e-09	1	1	0
FAM8A1	51439	broad.mit.edu	37	6	17605235	17605235	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:17605235A>G	uc003ncc.3	+	2	1055	c.932A>G	c.(931-933)tAc>tGc	p.Y311C		NM_016255	NP_057339	Q9UBU6	FA8A1_HUMAN	Homo sapiens family with sequence similarity 8, member A1 (FAM8A1), mRNA.	311	RDD.					integral to membrane				endometrium(1)|large_intestine(2)|lung(3)	6	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.143)	all cancers(50;0.176)|Epithelial(50;0.204)			GCACTTATATACAGATTATTA	0.284000														58			5		0	0	1	0	0
JAKMIP3	282973	broad.mit.edu	37	10	133954008	133954008	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:133954008C>T	uc001lkx.4	+	8	1398	c.1398C>T	c.(1396-1398)tcC>tcT	p.S466S		NM_001105521	NP_001098991			Homo sapiens Janus kinase and microtubule interacting protein 3 (JAKMIP3), mRNA.											breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		CCCTGGAATCCGACGGCTCCT	0.587000														16			12		0	0	1	0	0
KCND1	3750	broad.mit.edu	37	X	48819929	48819929	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:48819929G>A	uc004dlx.1	-	5	3430	c.1857C>T	c.(1855-1857)ggC>ggT	p.G619G	KCND1_uc004dlw.1_Silent_p.G242G	NM_004979	NP_004970	Q9NSA2	KCND1_HUMAN	Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 1 (KCND1), mRNA.	619						voltage-gated potassium channel complex	metal ion binding|voltage-gated potassium channel activity	p.G618G(1)		endometrium(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	24						CCCTGCCACCGCCGCCAGGGG	0.637000														15			9		0	0	1	0	0
C2orf65	130951	broad.mit.edu	37	2	74787407	74787407	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:74787407G>A	uc002smy.3	-	8	1410	c.1293C>T	c.(1291-1293)gaC>gaT	p.D431D	C2orf65_uc010ysa.2_Silent_p.D431D|C2orf65_uc010ffp.3_Silent_p.D80D	NM_138804	NP_620159	Q8TC57	CB065_HUMAN	Homo sapiens chromosome 2 open reading frame 65 (C2orf65), mRNA.	431					RNA processing|chromatin assembly|female gamete generation|spermatogenesis	integral to membrane		p.D431E(2)		endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	21						GCTCCAGGCTGTCCAGCATGC	0.567000														34			19		0	0	1	0	0
FGA	2243	broad.mit.edu	37	4	155506809	155506809	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:155506809C>A	uc003iod.1	-	4	1830	c.1772G>T	c.(1771-1773)aGa>aTa	p.R591I	FGA_uc003ioe.1_Missense_Mutation_p.R591I|FGA_uc003iof.1_3'UTR	NM_000508	NP_000499	P02671	FIBA_HUMAN	Homo sapiens fibrinogen alpha chain (FGA), transcript variant alpha-E, mRNA.	591					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	GGAGTCTCCTCTGTTGTAACT	0.453000														65			44		3.4345e-17	4.37189e-17	1	1	0
PLCB3	5331	broad.mit.edu	37	11	64032853	64032853	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:64032853C>T	uc009ypi.3	+	24	3041	c.2914C>T	c.(2914-2916)Cga>Tga	p.R972*	PLCB3_uc009ypg.2_Nonsense_Mutation_p.R972*|PLCB3_uc009yph.2_Nonsense_Mutation_p.R905*	NM_000932	NP_000923	Q01970	PLCB3_HUMAN	Homo sapiens phospholipase C, beta 3 (phosphatidylinositol-specific) (PLCB3), transcript variant 1, mRNA.	972					intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						CCGGCAAGAGCGAGACCTGCG	0.687000														14			6		0	0	1	0	0
TAS2R5	54429	broad.mit.edu	37	7	141490585	141490585	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:141490585G>A	uc003vwr.1	+	0	569	c.424G>A	c.(424-426)Gtc>Atc	p.V142I		NM_018980	NP_061853	Q9NYW4	TA2R5_HUMAN	Homo sapiens taste receptor, type 2, member 5 (TAS2R5), mRNA.	142					chemosensory behavior|sensory perception of taste		taste receptor activity			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9	Melanoma(164;0.0171)					GTTACTTACAGTCCAAATTGG	0.468000														25			30		0	0	1	0	0
MYH3	4621	broad.mit.edu	37	17	10545980	10545980	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:10545980A>G	uc002gmq.2	-	15	1730	c.1642T>C	c.(1642-1644)Tcc>Ccc	p.S548P		NM_002470	NP_002461	P11055	MYH3_HUMAN	Homo sapiens myosin, heavy chain 3, skeletal muscle, embryonic (MYH3), mRNA.	548	Myosin head-like.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						TTCTTGAAGGAGGTGTCTGTT	0.507000														97			5		0	0	1	0	0
FBN1	2200	broad.mit.edu	37	15	48905269	48905269	+	Missense_Mutation	SNP	C	T	T	rs145942328		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:48905269C>T	uc001zwx.2	-	2	580	c.185G>A	c.(184-186)cGt>cAt	p.R62H		NM_000138	NP_000129	P35555	FBN1_HUMAN	Homo sapiens fibrillin 1 (FBN1), mRNA.	62			R -> C (in MFS; also in a patient with ectopia lentis and retinal detachment; dbSNP:rs25403).		heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	p.R62H(2)		NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		AGCATTATAACGTGATCCACA	0.358000														89			8		0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228402554	228402554	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:228402554C>A	uc009xez.1	+	4	1627	c.1583C>A	c.(1582-1584)tCc>tAc	p.S528Y	OBSCN_uc001hsn.3_Missense_Mutation_p.S528Y|AK056556_uc001hsm.1_5'Flank	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	528	Fibronectin type-III 1.				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	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase 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)				ATGGAGAGTTCCGTGATTCTC	0.597000														11			13		1.61879e-10	1.95797e-10	1	1	0
CSF3R	1441	broad.mit.edu	37	1	36932899	36932899	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:36932899G>T	uc001caw.2	-	15	2556	c.1972C>A	c.(1972-1974)Ctc>Atc	p.L658I	MRPS15_uc001cas.2_5'Flank|CSF3R_uc001cav.2_Missense_Mutation_p.L658I|CSF3R_uc001cax.2_Missense_Mutation_p.L658I	NM_000760	NP_000751	Q99062	CSF3R_HUMAN	Homo sapiens colony stimulating factor 3 receptor (granulocyte) (CSF3R), transcript variant 1, mRNA.	658					cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	CTTGGCCAGAGGGGATTCTTC	0.587000														139			7		5.18039e-06	5.80246e-06	1	1	0
DCAF12L1	139170	broad.mit.edu	37	X	125685396	125685396	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:125685396C>A	uc022cds.1	-	0	1196	c.1196G>T	c.(1195-1197)aGg>aTg	p.R399M	DCAF12L1_uc004eul.3_Missense_Mutation_p.R399M	NM_178470	NP_848565	Q5VU92	DC121_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 12-like 1 (DCAF12L1), mRNA.	399										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						GAGCTTCCTCCTTGCAGGTCC	0.577000														63			32		1.60099e-16	2.02999e-16	1	1	0
SLAMF6	114836	broad.mit.edu	37	1	160460977	160460977	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:160460977C>T	uc001fwe.2	-	2	654	c.584G>A	c.(583-585)tGc>tAc	p.C195Y	SLAMF6_uc010pji.2_Missense_Mutation_p.C84Y|SLAMF6_uc001fwd.2_Missense_Mutation_p.C195Y|SLAMF6_uc010pjh.2_Missense_Mutation_p.C146Y|SLAMF6_uc010pjj.2_Missense_Mutation_p.C84Y|SLAMF6_uc009wtm.2_Missense_Mutation_p.C146Y	NM_001184714	NP_001171643	Q96DU3	SLAF6_HUMAN	Homo sapiens SLAM family member 6 (SLAMF6), transcript variant 1, mRNA.	195	Ig-like.					integral to membrane|plasma membrane	receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(4)	22	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0923)			CTCTGCTATGCAGGTGTAGTC	0.512000														52			33		0	0	1	0	0
SNX27	81609	broad.mit.edu	37	1	151664940	151664940	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:151664940C>A	uc001eyn.1	+	8	1285	c.1269C>A	c.(1267-1269)ggC>ggA	p.G423G	SNX27_uc001eyo.3_Silent_p.G330G|SNX27_uc001eyp.3_Silent_p.G237G	NM_030918	NP_112180	Q96L92	SNX27_HUMAN	Homo sapiens sorting nexin family member 27 (SNX27), mRNA.	423					cell communication|protein transport|signal transduction	cytosol|early endosome	phosphatidylinositol binding|protein binding			central_nervous_system(1)|large_intestine(2)|ovary(2)	5	Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			CTTGTGAGGGCTACAATGAAA	0.413000														32			5		1	1	1	1	0
ADAMTS14	140766	broad.mit.edu	37	10	72511319	72511319	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:72511319G>A	uc001jrg.3	+	16	2522	c.2522G>A	c.(2521-2523)aGc>aAc	p.S841N	ADAMTS14_uc001jrh.3_Missense_Mutation_p.S838N	NM_139155	NP_631894	Q8WXS8	ATS14_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 14 (ADAMTS14), transcript variant 1, mRNA.	838	Spacer.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						CTTATCGGGAGCAACAATGTG	0.637000														42			29		0	0	1	0	0
FAT2	2196	broad.mit.edu	37	5	150946459	150946459	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:150946459T>G	uc003lue.4	-	0	2047	c.2034A>C	c.(2032-2034)caA>caC	p.Q678H	FAT2_uc010jhx.1_Missense_Mutation_p.Q678H	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	678					epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCTTTGTGAATTGTGTCAATA	0.398000														94			11		0	0	1	0	0
BZRAP1	9256	broad.mit.edu	37	17	56395645	56395645	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:56395645G>T	uc002ivx.4	-	13	2739	c.1868C>A	c.(1867-1869)cCt>cAt	p.P623H	BZRAP1_uc010dcs.3_Missense_Mutation_p.P563H|BZRAP1_uc010wnt.2_Missense_Mutation_p.P623H	NM_004758	NP_004749	O95153	RIMB1_HUMAN	Homo sapiens benzodiazapine receptor (peripheral) associated protein 1 (BZRAP1), transcript variant 1, mRNA.	623						mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AATTACCTCAGGTGTAGGGCA	0.612000														42			20		3.01185e-09	3.57228e-09	1	1	0
FLNA	2316	broad.mit.edu	37	X	153581704	153581704	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153581704C>A	uc004fkk.2	-	36	6231	c.5982G>T	c.(5980-5982)gaG>gaT	p.E1994D	FLNA_uc011mzn.1_Missense_Mutation_p.E127D|FLNA_uc010nuu.1_Missense_Mutation_p.E1986D	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	Homo sapiens filamin A, alpha (FLNA), transcript variant 2, mRNA.	1994					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	Fc-gamma receptor I complex binding|GTP-Ral binding|Rac GTPase binding|actin filament binding|glycoprotein binding|protein homodimerization activity|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AACAGGGCTCCTCCCGGCCCG	0.647000														89			6		5.18039e-06	5.80246e-06	1	1	0
CNNM1	26507	broad.mit.edu	37	10	101124720	101124720	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:101124720G>A	uc010qpi.2	+	5	2426	c.2137G>A	c.(2137-2139)Gtg>Atg	p.V713M	CNNM1_uc009xwe.3_Missense_Mutation_p.V713M|CNNM1_uc001kpp.4_Missense_Mutation_p.V713M|CNNM1_uc009xwf.3_Missense_Mutation_p.V713M|CNNM1_uc009xwg.3_Missense_Mutation_p.V113M	NM_020348	NP_065081	Q9NRU3	CNNM1_HUMAN	Homo sapiens cyclin M1 (CNNM1), mRNA.	713					ion transport	integral to membrane|plasma membrane				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(5)|ovary(1)|prostate(1)|skin(1)	25		Colorectal(252;0.234)		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)		AGATAATGACGTGCGGAAGGT	0.512000														19			19		0	0	1	0	0
APEH	327	broad.mit.edu	37	3	49720671	49720671	+	Splice_Site	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49720671C>A	uc010hkw.1	+	22	2509	c.2109_splice	c.e22-1	p.R703_splice	APEH_uc003cxf.3_Splice_Site_p.R698_splice	NM_001640	NP_001631	P13798	ACPH_HUMAN	Homo sapiens N-acylaminoacyl-peptide hydrolase (APEH), mRNA.	698					proteolysis	cytoplasm|nuclear membrane	serine-type endopeptidase activity	p.L699F(1)		endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TCCCTACAGGCTCCTGCTCTA	0.562000														139			16		1.3612e-06	1.54683e-06	1	1	0
FBXO28	23219	broad.mit.edu	37	1	224340896	224340896	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:224340896C>A	uc001hoh.2	+	3	610	c.569C>A	c.(568-570)cCt>cAt	p.P190H	FBXO28_uc009xef.2_Intron|FBXO28_uc010pvc.1_5'UTR	NM_015176	NP_055991	Q9NVF7	FBX28_HUMAN	Homo sapiens F-box protein 28 (FBXO28), transcript variant 1, mRNA.	190										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(2)|skin(1)	10	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.0363)		ACCAGAGCCCCTCAACGAGCT	0.318000														93			25		6.32553e-13	7.83728e-13	1	1	0
MT1DP	326343	broad.mit.edu	37	16	56678731	56678731	+	RNA	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:56678731G>A	uc010cci.3	+	2		c.242G>A			MT1DP_uc010vhf.2_Non-coding_Transcript					Homo sapiens metallothionein 1D, pseudogene (MT1DP), transcript variant 2, non-coding RNA.																		ACAGCCCTGCGTCCAGTTGTA	0.473000														30			6		0	0	1	0	0
NUP155	9631	broad.mit.edu	37	5	37350344	37350344	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:37350344T>C	uc003jku.1	-	6	865	c.747A>G	c.(745-747)caA>caG	p.Q249Q	NUP155_uc003jkt.1_Silent_p.Q190Q|NUP155_uc010iuz.1_Silent_p.Q249Q	NM_153485	NP_004289	O75694	NU155_HUMAN	Homo sapiens nucleoporin 155kDa (NUP155), transcript variant 1, mRNA.	249					carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TCCTACATCTTTGGCTAAACC	0.343000														95			6		0	0	1	0	0
NUP35	129401	broad.mit.edu	37	2	183995273	183995273	+	Splice_Site	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:183995273G>A	uc002upf.3	+	3	442	c.339_splice	c.e3+1	p.Q113_splice	NUP35_uc010zfs.2_Splice_Site_p.Q95_splice|NUP35_uc010zft.2_Splice_Site|NUP35_uc002upg.3_Splice_Site	NM_138285	NP_612142	Q8NFH5	NUP53_HUMAN	Homo sapiens nucleoporin 35kDa (NUP35), mRNA.	113					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	intermediate filament cytoskeleton|nuclear membrane|nuclear pore|plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)	8						CAAGAAGACAGGTAATATAAA	0.378000														98			57		0	0	1	0	0
CNTN3	5067	broad.mit.edu	37	3	74316426	74316426	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:74316426T>C	uc003dpm.1	-	19	2888	c.2808A>G	c.(2806-2808)acA>acG	p.T936T		NM_020872	NP_065923	Q9P232	CNTN3_HUMAN	Homo sapiens contactin 3 (plasmacytoma associated) (CNTN3), mRNA.	936	Fibronectin type-III 4.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		CTTTATATCCTGTTACTTCTG	0.358000														92			6		0	0	1	0	0
UGT2A3	79799	broad.mit.edu	37	4	69795536	69795536	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:69795536C>T	uc003hef.2	-	5	1610	c.1579G>A	c.(1579-1581)Gaa>Aaa	p.E527K	UGT2A3_uc010ihp.1_Non-coding_Transcript	NM_024743	NP_079019	Q6UWM9	UD2A3_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A3 (UGT2A3), mRNA.	527						integral to membrane	glucuronosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						AAGATCTATTCCCTCTTTTCT	0.333000														46			20		0	0	1	0	0
ATP6V0C	527	broad.mit.edu	37	16	2569642	2569642	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:2569642G>A	uc021tav.1	+	3	439	c.364G>A	c.(364-366)Gcc>Acc	p.A122T	TBC1D24_uc002cqm.3_3'UTR|ATP6V0C_uc002cqn.3_Missense_Mutation_p.A122T|AMDHD2_uc002cqp.3_5'Flank|AMDHD2_uc002cqq.3_5'Flank|AMDHD2_uc010uwc.2_5'Flank|AMDHD2_uc010uwd.2_5'Flank	NM_001198569	NP_001185498	P27449	VATL_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 16kDa, V0 subunit c (ATP6V0C), transcript variant 2, mRNA.	122					ATP hydrolysis coupled proton transport|ATP synthesis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|interspecies interaction between organisms|transferrin transport	endosome membrane|integral to membrane|proton-transporting ATP synthase complex, coupling factor F(o)|proton-transporting V-type ATPase, V0 domain|vacuolar membrane	hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism|ubiquitin protein ligase binding			endometrium(1)|lung(1)|ovary(1)	3		Ovarian(90;0.17)				GCGGGGCACCGCCCAGCAGCC	0.672000														23			16		0	0	1	0	0
FBN3	84467	broad.mit.edu	37	19	8201322	8201322	+	Missense_Mutation	SNP	C	T	T	rs142403623		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:8201322C>T	uc002mjf.3	-	9	1312	c.1295G>A	c.(1294-1296)cGc>cAc	p.R432H		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	432	EGF-like 3.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						ACACTCGCAGCGGTAGCTGGA	0.642000														47			30		0	0	1	0	0
ALS2CR11	151254	broad.mit.edu	37	2	202483717	202483717	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:202483717G>A	uc002uyf.3	-	0	189	c.137C>T	c.(136-138)tCg>tTg	p.S46L	ALS2CR11_uc002uye.3_Missense_Mutation_p.S46L|ALS2CR11_uc010fti.3_Missense_Mutation_p.S46L|ALS2CR11_uc021vvc.1_Missense_Mutation_p.S46L	NM_001168221	NP_001161693	Q53TS8	AL2SA_HUMAN	Homo sapiens amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11 (ALS2CR11), transcript variant 1, mRNA.	46										NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						AGAAGCCTCCGACCCTTTAAT	0.602000														34			29		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179455593	179455593	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179455593C>T	uc021vsy.1	-	252	53380	c.53155G>A	c.(53155-53157)Gca>Aca	p.A17719T	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.A11414T|TTN_uc021vta.1_Missense_Mutation_p.A11347T|TTN_uc021vtb.1_Missense_Mutation_p.A11222T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	18646	Fibronectin type-III 28.						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)			ACTGTTGCTGCATTTTCAGTA	0.473000														47			40		0	0	1	0	0
SHKBP1	92799	broad.mit.edu	37	19	41086793	41086793	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:41086793C>T	uc002oob.3	+	8	844	c.795C>T	c.(793-795)agC>agT	p.S265S	SHKBP1_uc002ooc.3_Silent_p.S265S|SHKBP1_uc010xvl.1_Silent_p.S188S|SHKBP1_uc002ooe.3_Silent_p.S102S|SHKBP1_uc010xvm.2_Silent_p.S102S|SHKBP1_uc010xvn.2_Silent_p.S143S	NM_138392	NP_612401	Q8TBC3	SHKB1_HUMAN	Homo sapiens SH3KBP1 binding protein 1 (SHKBP1), mRNA.	265						voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.G264S(1)		breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CCACCGGCAGCGAGATCCTGC	0.607000														52			27		0	0	1	0	0
PAPD5	64282	broad.mit.edu	37	16	50245298	50245298	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:50245298C>T	uc010vgo.2	+	2	693	c.658C>T	c.(658-660)Cgg>Tgg	p.R220W	PAPD5_uc002efz.3_Missense_Mutation_p.R220W|PAPD5_uc010cbi.2_Non-coding_Transcript	NM_001040284	NP_001035374	Q8NDF8	PAPD5_HUMAN	Homo sapiens PAP associated domain containing 5 (PAPD5), transcript variant 1, mRNA.	141					DNA replication|cell division|histone mRNA catabolic process|mitosis	cytoplasm|nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding			endometrium(1)|kidney(1)|lung(2)	4		all_cancers(37;0.0452)		BRCA - Breast invasive adenocarcinoma(181;0.0843)|GBM - Glioblastoma multiforme(240;0.231)		GGAGAAGATGCGGATGGAGGT	0.458000														21			13		0	0	1	0	0
LDB3	11155	broad.mit.edu	37	10	88485985	88485985	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:88485985G>A	uc001kdv.3	+	11	2093	c.2070G>A	c.(2068-2070)tgG>tgA	p.W690*	LDB3_uc010qmm.2_Nonsense_Mutation_p.W695*|LDB3_uc009xsz.3_Nonsense_Mutation_p.W319*|LDB3_uc001kdu.3_Nonsense_Mutation_p.W580*|LDB3_uc009xta.2_Nonsense_Mutation_p.W69*	NM_007078	NP_009009	O75112	LDB3_HUMAN	Homo sapiens LIM domain binding 3 (LDB3), transcript variant 1, mRNA.	690	LIM zinc-binding 3.					cytoskeleton|perinuclear region of cytoplasm|pseudopodium	zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						GCCACACTTGGCACGACACCT	0.547000														15			11		0	0	1	0	0
CAMK4	814	broad.mit.edu	37	5	110819737	110819737	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:110819737C>T	uc003kpf.3	+	10	1230	c.995C>T	c.(994-996)gCt>gTt	p.A332V	CAMK4_uc010jbv.3_Missense_Mutation_p.A135V|CAMK4_uc003kpg.3_Missense_Mutation_p.A23V	NM_001744	NP_001735	Q16566	KCC4_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase IV (CAMK4), mRNA.	332	Calmodulin-binding (Potential).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		GCGGTGAAGGCTGTGGTGGCC	0.557000														30			19		0	0	1	0	0
CCDC88A	55704	broad.mit.edu	37	2	55566748	55566748	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:55566748A>G	uc002ryv.2	-	12	2212	c.1370T>C	c.(1369-1371)tTg>tCg	p.L457S	CCDC88A_uc010ypa.1_Missense_Mutation_p.L457S|CCDC88A_uc010yoz.1_Missense_Mutation_p.L457S|CCDC88A_uc010ypb.1_Missense_Mutation_p.L359S	NM_001135597	NP_001129069	Q3V6T2	GRDN_HUMAN	Homo sapiens coiled-coil domain containing 88A (CCDC88A), transcript variant 1, mRNA.	457					DNA replication|TOR signaling cascade|activation of protein kinase B activity|cell migration|cellular membrane organization|lamellipodium assembly|microtubule cytoskeleton organization|regulation of DNA replication|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of neuron projection development	Golgi apparatus|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						ACTTGATGTCAACTCATTCAC	0.363000														25			19		0	0	1	0	0
MCM7	4176	broad.mit.edu	37	7	99695277	99695277	+	Silent	SNP	G	A	A	rs146058965		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:99695277G>A	uc003usw.1	-	8	1587	c.1077C>T	c.(1075-1077)gtC>gtT	p.V359V	MCM7_uc003usv.1_Silent_p.V183V|MCM7_uc003usx.1_Silent_p.V183V	NM_005916	NP_005907	P33993	MCM7_HUMAN	Homo sapiens minichromosome maintenance complex component 7 (MCM7), transcript variant 1, mRNA.	359	MCM.				DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint|regulation of phosphorylation|response to DNA damage stimulus	MCM complex|chromatin	ATP binding|protein binding	p.V359V(1)|p.V183V(1)		endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)				Atorvastatin(DB01076)	CCACACCCCCGACTAGCAGGA	0.502000														419			20		0	0	1	0	0
ARHGAP39	80728	broad.mit.edu	37	8	145773468	145773468	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:145773468G>A	uc003zds.1	-	5	1557	c.1002C>T	c.(1000-1002)ttC>ttT	p.F334F	ARHGAP39_uc011llk.1_Silent_p.F334F|ARHGAP39_uc003zdt.1_Silent_p.F334F	NM_025251	NP_079527	Q9C0H5	RHG39_HUMAN	Homo sapiens Rho GTPase activating protein 39 (ARHGAP39), mRNA.	334	Pro-rich.				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						CGCCAGCCTCGAATTGCACGT	0.706000														29			15		0	0	1	0	0
CCT6P3	643180	broad.mit.edu	37	7	64528880	64528880	+	RNA	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:64528880C>A	uc003ttt.1	+	4		c.674C>A			CCT6P3_uc010kzt.1_Non-coding_Transcript					Homo sapiens chaperonin containing TCP1, subunit 6 (zeta) pseudogene 3 (CCT6P3), non-coding RNA.																		AAGAGAAAAACTCATAAAAGC	0.279000														12			7		0.00307968	0.00322291	1	1	0
NUP160	23279	broad.mit.edu	37	11	47819386	47819386	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:47819386G>A	uc001ngm.3	-	26	3319	c.3234C>T	c.(3232-3234)caC>caT	p.H1078H	NUP160_uc009ylw.3_Non-coding_Transcript|NUP160_uc021qiu.1_Silent_p.H1078H	NM_015231	NP_056046	Q12769	NU160_HUMAN	Homo sapiens nucleoporin 160kDa (NUP160), mRNA.	1078					carbohydrate metabolic process|glucose transport|mRNA export from nucleus|mitotic prometaphase|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	Nup107-160 complex|cytosol	nucleocytoplasmic transporter activity|protein binding			NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						CATAGTAATTGTGAGTCATAA	0.433000														42			28		0	0	1	0	0
ARSD	414	broad.mit.edu	37	X	2836236	2836236	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:2836236G>A	uc004cqy.3	-	4	572	c.472C>T	c.(472-474)Cgc>Tgc	p.R158C		NM_001669	NP_001660	P51689	ARSD_HUMAN	Homo sapiens arylsulfatase D (ARSD), mRNA.	158						lysosome	arylsulfatase activity|metal ion binding			large_intestine(3)|lung(3)	6		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TGATCCCCGCGGGATGCACAA	0.552000														15			3		0	0	1	0	0
FLT1	2321	broad.mit.edu	37	13	28964134	28964134	+	Missense_Mutation	SNP	T	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:28964134T>A	uc001usb.3	-	12	2053	c.1768A>T	c.(1768-1770)Att>Ttt	p.I590F	FLT1_uc010aar.1_Missense_Mutation_p.I590F|FLT1_uc001usc.3_Missense_Mutation_p.I590F|FLT1_uc010aas.1_Non-coding_Transcript|FLT1_uc010aat.1_Missense_Mutation_p.I73F	NM_002019	NP_002010	P17948	VGFR1_HUMAN	Homo sapiens fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor) (FLT1), transcript variant 1, mRNA.	590	Ig-like C2-type 6.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	Golgi apparatus|extracellular space|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity	p.W589*(1)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	CGCAGTAAAATCCAAGTAACG	0.393000														60			45		0	0	1	0	0
LGALS3BP	3959	broad.mit.edu	37	17	76967788	76967788	+	Missense_Mutation	SNP	G	A	A	rs150793355		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:76967788G>A	uc002jwh.3	-	5	1807	c.1628C>T	c.(1627-1629)gCg>gTg	p.A543V	LGALS3BP_uc002jwi.3_Missense_Mutation_p.A349V	NM_005567	NP_005558	Q08380	LG3BP_HUMAN	Homo sapiens lectin, galactoside-binding, soluble, 3 binding protein (LGALS3BP), mRNA.	543					cell adhesion|cellular defense response	extracellular space|membrane|proteinaceous extracellular matrix	protein binding|scavenger receptor activity			NS(1)|breast(1)|central_nervous_system(5)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(99;0.0677)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			ACTGGGAATCGCAGCCTTCCA	0.622000											OREG0024787	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		28			22		0	0	1	0	0
TOP1MT	116447	broad.mit.edu	37	8	144400187	144400187	+	Splice_Site	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:144400187C>T	uc003yxz.3	-	9	1234	c.1215_splice	c.e9+1	p.T405_splice	TOP1MT_uc011lkd.2_Splice_Site_p.T307_splice|TOP1MT_uc011lke.2_Splice_Site_p.T307_splice|TOP1MT_uc011lkf.2_Splice_Site_p.T200_splice	NM_052963	NP_443195	Q969P6	TOP1M_HUMAN	Homo sapiens topoisomerase (DNA) I, mitochondrial (TOP1MT), nuclear gene encoding mitochondrial protein, mRNA.	405					DNA topological change	chromosome|mitochondrial nucleoid	ATP binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity|chromatin DNA binding			endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	23	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		Irinotecan(DB00762)|Topotecan(DB01030)	AGCCGGCTTACGGTCAGCCTG	0.582000														25			14		0	0	1	0	0
SMCR8	140775	broad.mit.edu	37	17	18226218	18226218	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:18226218G>A	uc002gsy.4	+	1	3158	c.2648G>A	c.(2647-2649)cGc>cAc	p.R883H		NM_144775	NP_658988	Q8TEV9	SMCR8_HUMAN	Homo sapiens Smith-Magenis syndrome chromosome region, candidate 8 (SMCR8), mRNA.	883										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						GTAGCCAGCCGCCAGATGAGC	0.577000														24			16		0	0	1	0	0
TMEM155	132332	broad.mit.edu	37	4	122681480	122681480	+	Nonsense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:122681480G>T	uc003idx.1	-	5	921	c.362C>A	c.(361-363)tCa>tAa	p.S121*		NM_152399	NP_689612	Q4W5P6	TM155_HUMAN	Homo sapiens transmembrane protein 155 (TMEM155), mRNA.	121						extracellular region				breast(1)|lung(5)	6						agtagccaatgacacagttct	0.413000														20			15		7.93312e-07	9.03407e-07	1	1	0
NAA35	60560	broad.mit.edu	37	9	88628649	88628649	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:88628649G>A	uc004aoi.4	+	16	1542	c.1405G>A	c.(1405-1407)Gca>Aca	p.A469T	NAA35_uc004aoj.4_Missense_Mutation_p.A469T	NM_024635	NP_078911	Q5VZE5	NAA35_HUMAN	Homo sapiens N(alpha)-acetyltransferase 35, NatC auxiliary subunit (NAA35), mRNA.	469					smooth muscle cell proliferation	cytoplasm|nucleus|plasma membrane				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	25						GAAGGTTGATGCAGCGCTTCA	0.383000														63			37		0	0	1	0	0
DFNB31	25861	broad.mit.edu	37	9	117169038	117169038	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:117169038G>T	uc004biy.4	-	8	1324	c.684C>A	c.(682-684)tcC>tcA	p.S228S	DFNB31_uc004bix.3_Silent_p.S260S|DFNB31_uc004biz.4_Silent_p.S611S|DFNB31_uc004bja.4_Silent_p.S611S	NM_001083885	NP_001077354	Q9P202	WHRN_HUMAN	Homo sapiens deafness, autosomal recessive 31 (DFNB31), transcript variant 2, mRNA.	611					inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						AAGGCATGGAGGAAGGTGGCT	0.667000														25			3		0.004672	0.00486265	1	1	0
TM6SF1	53346	broad.mit.edu	37	15	83784642	83784642	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:83784642G>A	uc002bjp.3	+	2	351	c.242G>A	c.(241-243)gGa>gAa	p.G81E	TM6SF1_uc010bmq.3_Missense_Mutation_p.G81E|TM6SF1_uc002bjq.3_Missense_Mutation_p.G81E|TM6SF1_uc010bmr.3_Non-coding_Transcript	NM_023003	NP_075379	Q9BZW5	TM6S1_HUMAN	Homo sapiens transmembrane 6 superfamily member 1 (TM6SF1), transcript variant 1, mRNA.	81						integral to membrane				endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						CTCATCATAGGACTGGAGCAA	0.423000														20			12		0	0	1	0	0
MKI67	4288	broad.mit.edu	37	10	129901141	129901141	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:129901141T>C	uc001lke.3	-	12	9158	c.8963A>G	c.(8962-8964)aAc>aGc	p.N2988S	MKI67_uc001lkf.3_Missense_Mutation_p.N2628S|MKI67_uc009yav.1_Missense_Mutation_p.N2563S|MKI67_uc009yaw.1_Missense_Mutation_p.N2138S	NM_002417	NP_002408	P46013	KI67_HUMAN	Homo sapiens antigen identified by monoclonal antibody Ki-67 (MKI67), transcript variant 1, mRNA.	2988					cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				CAGGGAAGTGTTGCTTTTGCT	0.532000														98			14		0	0	1	0	0
P4HA2	8974	broad.mit.edu	37	5	131554263	131554263	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:131554263C>T	uc003kwh.3	-	1	621	c.57G>A	c.(55-57)gtG>gtA	p.V19V	P4HA2_uc003kwg.3_Silent_p.V19V|P4HA2_uc003kwi.3_Silent_p.V19V|P4HA2_uc003kwk.3_Silent_p.V19V|P4HA2_uc003kwl.3_Silent_p.V19V|P4HA2_uc003kwj.3_Silent_p.V19V	NM_004199	NP_004190	O15460	P4HA2_HUMAN	Homo sapiens prolyl 4-hydroxylase, alpha polypeptide II (P4HA2), transcript variant 1, mRNA.	19						endoplasmic reticulum lumen	L-ascorbic acid binding|electron carrier activity|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity|protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		all_cancers(142;0.103)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Proline(DB00172)|Succinic acid(DB00139)	ATTCGGCCTGCACACAGCTCA	0.527000														13			4		0	0	1	0	0
PTGFRN	5738	broad.mit.edu	37	1	117492104	117492104	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:117492104G>A	uc001egv.1	+	3	1260	c.1123G>A	c.(1123-1125)Gtg>Atg	p.V375M		NM_020440	NP_065173	Q9P2B2	FPRP_HUMAN	Homo sapiens prostaglandin F2 receptor negative regulator (PTGFRN), mRNA.	375	Ig-like C2-type 3.					Golgi apparatus|endoplasmic reticulum membrane|integral to membrane	protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		TTACTGCCACGTGTCCCTGTG	0.552000														41			36		0	0	1	0	0
GRID2	2895	broad.mit.edu	37	4	94032058	94032058	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:94032058C>T	uc011cdt.2	+	3	947	c.689C>T	c.(688-690)gCg>gTg	p.A230V	GRID2_uc010ikx.3_Missense_Mutation_p.A230V|GRID2_uc011cdu.2_Missense_Mutation_p.A135V|GRID2_uc011cdv.1_Non-coding_Transcript	NM_001510	NP_001501	O43424	GRID2_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 2 (GRID2), mRNA.	230					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	CTTAGGCGAGCGATCCTTGTT	0.388000														77			32		0	0	1	0	0
DAB2	1601	broad.mit.edu	37	5	39375182	39375182	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:39375182G>T	uc003jlx.3	-	13	2783	c.2252C>A	c.(2251-2253)gCt>gAt	p.A751D	DAB2_uc003jlw.3_Missense_Mutation_p.A730D	NM_001343	NP_001334	P98082	DAB2_HUMAN	Homo sapiens disabled homolog 2, mitogen-responsive phosphoprotein (Drosophila) (DAB2), transcript variant 1, mRNA.	751	Required for interaction with MYO6 (By similarity).				cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	clathrin coated vesicle membrane|coated pit	protein C-terminus binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			TTGAGAAGAAGCCACCTAAGA	0.343000														55			6		0.0215528	0.0220531	1	1	0
CLCA3P	9629	broad.mit.edu	37	1	87101749	87101749	+	RNA	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:87101749C>A	uc010osh.2	+	2		c.429C>A								Homo sapiens chloride channel accessory 3, pseudogene (CLCA3P), non-coding RNA.											endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	5						CTCCAAACTTCTTGTTGACTA	0.358000														107			46		2.65591e-33	3.51349e-33	1	1	0
TMEM140	55281	broad.mit.edu	37	7	134849717	134849717	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:134849717C>T	uc003vsi.3	+	1	805	c.524C>T	c.(523-525)gCt>gTt	p.A175V	C7orf49_uc003vsh.3_Intron|TMEM140_uc022aly.1_Missense_Mutation_p.A175V	NM_018295	NP_060765	Q9NV12	TM140_HUMAN	Homo sapiens transmembrane protein 140 (TMEM140), mRNA.	175						integral to membrane				kidney(1)|large_intestine(2)|lung(2)	5						CCTCTGAGGGCTGAGAGGGCT	0.577000														29			32		0	0	1	0	0
OSBPL3	26031	broad.mit.edu	37	7	24839811	24839811	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:24839811G>A	uc003sxf.3	-	22	3060	c.2655C>T	c.(2653-2655)gtC>gtT	p.V885V	OSBPL3_uc003sxd.3_Non-coding_Transcript|OSBPL3_uc003sxe.3_Non-coding_Transcript|OSBPL3_uc003sxg.3_Silent_p.V849V|OSBPL3_uc003sxh.3_Silent_p.V854V|OSBPL3_uc003sxi.3_Silent_p.V818V	NM_015550	NP_056365	Q9H4L5	OSBL3_HUMAN	Homo sapiens oxysterol binding protein-like 3 (OSBPL3), transcript variant 1, mRNA.	885					lipid transport		lipid binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						TTCACCATAAGACAGGATGGT	0.383000														39			6		0	0	1	0	0
C10orf46	143384	broad.mit.edu	37	10	120454656	120454656	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:120454656G>A	uc001lds.1	-	5	1367	c.883C>T	c.(883-885)Cca>Tca	p.P295S	C10orf46_uc010qst.1_Non-coding_Transcript	NM_153810	NP_722517	Q86Y37	CJ046_HUMAN	Homo sapiens chromosome 10 open reading frame 46 (C10orf46), mRNA.	295					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex	ubiquitin protein ligase binding			endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	11		Lung NSC(174;0.142)|all_lung(145;0.175)		all cancers(201;0.0131)		TGTTTACCTGGTCTGAGGGTA	0.403000														100			7		0	0	1	0	0
ZNF157	7712	broad.mit.edu	37	X	47272857	47272857	+	Missense_Mutation	SNP	G	A	A	rs138071941		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:47272857G>A	uc004dhr.1	+	3	1454	c.1385G>A	c.(1384-1386)cGa>cAa	p.R462Q		NM_003446	NP_003437	P51786	ZN157_HUMAN	Homo sapiens zinc finger protein 157 (ZNF157), mRNA.	462					negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						GAACATCAGCGAATTCACACA	0.458000														25			23		0	0	1	0	0
SLC19A1	6573	broad.mit.edu	37	21	46945844	46945844	+	Nonsense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:46945844C>A	uc002zhl.2	-	4	1333	c.1180G>T	c.(1180-1182)Gag>Tag	p.E394*	SLC19A1_uc010gpy.1_Nonsense_Mutation_p.E394*|SLC19A1_uc011aft.2_Nonsense_Mutation_p.E354*|SLC19A1_uc002zhm.2_Nonsense_Mutation_p.E394*|SLC19A1_uc010gpz.2_Nonsense_Mutation_p.E273*	NM_194255	NP_919231	P41440	S19A1_HUMAN	Homo sapiens solute carrier family 19 (folate transporter), member 1 (SLC19A1), transcript variant 1, mRNA.	394					folic acid metabolic process	integral to plasma membrane|membrane fraction	folic acid binding|folic acid transporter activity|methotrexate transporter activity|reduced folate carrier activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10				Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)		GCACAGAGCTCTTTAGACAGA	0.567000														62			30		5.09552e-08	5.93115e-08	1	1	0
MDFI	4188	broad.mit.edu	37	6	41621130	41621130	+	Silent	SNP	C	T	T	rs138239258		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:41621130C>T	uc003oqq.4	+	4	765	c.558C>T	c.(556-558)tgC>tgT	p.C186C	MDFI_uc010jxn.3_Silent_p.C186C	NM_005586	NP_005577	Q99750	MDFI_HUMAN	Homo sapiens MyoD family inhibitor (MDFI), mRNA.	186	Cys-rich.				cytoplasmic sequestering of transcription factor|dorsal/ventral axis specification|negative regulation of DNA binding|negative regulation of Wnt receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|prostate(2)|skin(1)|urinary_tract(1)	8	Ovarian(28;0.0327)|Colorectal(47;0.121)		Colorectal(64;0.0123)|COAD - Colon adenocarcinoma(64;0.0264)|KIRC - Kidney renal clear cell carcinoma(1;0.138)			TCCTGGACTGCGCCACCTGTG	0.657000														33			29		0	0	1	0	0
IFI44	10561	broad.mit.edu	37	1	79121166	79121166	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:79121166C>A	uc001dip.4	+	4	934	c.810C>A	c.(808-810)atC>atA	p.I270I	IFI44_uc010orr.1_Silent_p.I270I|IFI44_uc010ors.1_5'UTR	NM_006417	NP_006408	Q8TCB0	IFI44_HUMAN	Homo sapiens interferon-induced protein 44 (IFI44), mRNA.	270					response to virus	cytoplasm				central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21						TATTCTATATCTTGAACGGTA	0.388000														90			9		3.86212e-05	4.23294e-05	1	1	0
EIF4A1	1973	broad.mit.edu	37	17	7480800	7480800	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7480800C>T	uc002gho.2	+	17	3326	c.763C>T	c.(763-765)Cga>Tga	p.R255*	EIF4A1_uc002ghr.1_Nonsense_Mutation_p.R255*|SNORA67_uc010cml.1_5'Flank|EIF4A1_uc021tpc.1_5'Flank|CD68_uc002ghu.3_5'Flank|CD68_uc002ghv.3_5'Flank	NM_001416	NP_001407	P60842	IF4A1_HUMAN	Homo sapiens eukaryotic translation initiation factor 4A1 (EIF4A1), transcript variant 1, mRNA.	255	Helicase C-terminal.				nuclear-transcribed mRNA poly(A) tail shortening	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|RNA cap binding|mRNA binding|protein binding|translation initiation factor activity	p.R255L(1)		NS(1)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	22						CAACGTGGAACGAGAGGTGGG	0.552000														29			25		0	0	1	0	0
IL33	90865	broad.mit.edu	37	9	6250588	6250588	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:6250588C>T	uc003zjt.3	+	2	284	c.206C>T	c.(205-207)tCa>tTa	p.S69L	IL33_uc011lmg.2_Missense_Mutation_p.S69L|IL33_uc011lmh.2_Intron|IL33_uc022bdf.1_Missense_Mutation_p.S69L	NM_033439	NP_254274	O95760	IL33_HUMAN	Homo sapiens interleukin 33 (IL33), transcript variant 1, mRNA.	69					positive regulation of chemokine secretion|positive regulation of inflammatory response|positive regulation of macrophage activation|positive regulation of transcription from RNA polymerase II promoter	extracellular space	cytokine activity			breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|stomach(1)|urinary_tract(1)	16		Acute lymphoblastic leukemia(23;0.158)|Prostate(43;0.167)		GBM - Glioblastoma multiforme(50;0.0161)|Lung(218;0.105)		AAAAGGCCTTCACTGAAAACA	0.413000														32			24		0	0	1	0	0
CAPN13	92291	broad.mit.edu	37	2	30993237	30993237	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:30993237G>A	uc021vfn.1	-	3	498	c.466C>T	c.(466-468)Cgt>Tgt	p.R156C	CAPN13_uc021vfm.1_Missense_Mutation_p.R156C|CAPN13_uc002rnp.1_Missense_Mutation_p.R156C	NM_144575	NP_653176	Q6MZZ7	CAN13_HUMAN	Homo sapiens calpain 13 (CAPN13), mRNA.	156	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)					TGGCGAGGACGCACAAAGAGG	0.552000														47			36		0	0	1	0	0
FAM47C	442444	broad.mit.edu	37	X	37027307	37027307	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:37027307C>A	uc004ddl.2	+	0	876	c.824C>A	c.(823-825)cCt>cAt	p.P275H		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA.	275				P -> S (in Ref. 2; BAC86381).						breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						CTGGAGCCTCCTGGGACTGGA	0.612000														39			19		2.4624e-09	2.92908e-09	1	1	0
NTRK3	4916	broad.mit.edu	37	15	88678612	88678612	+	Silent	SNP	C	T	T	rs145564369		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:88678612C>T	uc002bme.2	-	9	1230	c.924G>A	c.(922-924)gtG>gtA	p.V308V	NTRK3_uc002bmh.2_Silent_p.V308V|NTRK3_uc002bmf.2_Silent_p.V308V|NTRK3_uc021sua.1_Silent_p.V308V|NTRK3_uc010upl.1_Silent_p.V210V|NTRK3_uc010bnh.1_Silent_p.V308V|NTRK3_uc002bmg.3_Silent_p.V308V	NM_001012338	NP_001012338	Q16288	NTRK3_HUMAN	Homo sapiens neurotrophic tyrosine kinase, receptor, type 3 (NTRK3), transcript variant 1, mRNA.	308					transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.V307L(2)	ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			CCTCCAGGCTCACCACACGTG	0.592000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)				18			9		0	0	1	0	0
PHKG1	5260	broad.mit.edu	37	7	56151049	56151049	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:56151049G>T	uc011kdb.1	-	6	760	c.565C>A	c.(565-567)Ctc>Atc	p.L189I	PSPH_uc003trj.3_Intron|PHKG1_uc003try.1_Missense_Mutation_p.L51I|PHKG1_uc003trz.1_Missense_Mutation_p.L157I|PHKG1_uc011kdc.1_Missense_Mutation_p.L148I|PHKG1_uc011kdd.1_Missense_Mutation_p.L103I	NM_006213	NP_006204	Q16816	PHKG1_HUMAN	Homo sapiens phosphorylase kinase, gamma 1 (muscle) (PHKG1), mRNA.	157	Protein kinase.				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	ATP binding|calmodulin binding|phosphorylase kinase activity			endometrium(1)|large_intestine(1)|lung(5)	7	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TCATCCAAGAGAATGTTCTCG	0.552000														46			17		2.35188e-11	2.87337e-11	1	1	0
NEIL2	252969	broad.mit.edu	37	8	11637279	11637279	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:11637279C>T	uc003wug.2	+	2	986	c.311C>T	c.(310-312)tCt>tTt	p.S104F	NEIL2_uc003wue.2_Missense_Mutation_p.S104F|NEIL2_uc003wuf.2_Missense_Mutation_p.S43F|NEIL2_uc011kxd.1_Intron	NM_145043	NP_001129219	Q969S2	NEIL2_HUMAN	Homo sapiens nei endonuclease VIII-like 2 (E. coli) (NEIL2), transcript variant 1, mRNA.	104					base-excision repair|nucleotide-excision repair	nucleus	DNA-(apurinic or apyrimidinic site) lyase activity|damaged DNA binding|hydrolase activity, hydrolyzing N-glycosyl compounds|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10	all_epithelial(15;0.103)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.166)		TCCTCACGGTCTGCAGAGCTC	0.602000								Base excision repair (BER), DNA glycosylases						48			32		0	0	1	0	0
NPAS3	64067	broad.mit.edu	37	14	33684459	33684459	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:33684459T>C	uc001wru.3	+	2	276	c.212T>C	c.(211-213)tTc>tCc	p.F71S	NPAS3_uc001wrs.3_Missense_Mutation_p.F41S|NPAS3_uc001wrv.3_Missense_Mutation_p.F41S|NPAS3_uc001wrt.3_Missense_Mutation_p.F41S|NPAS3_uc001wrw.3_5'UTR	NM_001164749	NP_001158221	Q8IXF0	NPAS3_HUMAN	Homo sapiens neuronal PAS domain protein 3 (NPAS3), transcript variant 1, mRNA.	71	Helix-loop-helix motif.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		AACTTTGAGTTCTATGAATTG	0.458000														68			16		0	0	1	0	0
NOTCH4	4855	broad.mit.edu	37	6	32170036	32170036	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:32170036C>T	uc003obb.3	-	20	3711	c.3572G>A	c.(3571-3573)tGc>tAc	p.C1191Y	NOTCH4_uc003oba.3_5'UTR|NOTCH4_uc011dpu.2_Intron|NOTCH4_uc011dpv.2_Intron	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	Homo sapiens notch 4 (NOTCH4), mRNA.	1191					Notch receptor processing|Notch signaling pathway|cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						CGGGCCACTGCAGCCAGCATC	0.662000														20			13		0	0	1	0	0
PTPRU	10076	broad.mit.edu	37	1	29606579	29606579	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:29606579G>A	uc001bru.3	+	10	1923	c.1794G>A	c.(1792-1794)ccG>ccA	p.P598P	PTPRU_uc009vtq.3_Silent_p.P598P|PTPRU_uc009vtr.3_Silent_p.P598P|PTPRU_uc001brw.3_Silent_p.P598P	NM_005704	NP_005695	Q92729	PTPRU_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, U (PTPRU), transcript variant 3, mRNA.	598	Fibronectin type-III 4.				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity	p.P598S(1)		breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		CCGACATGCCGTCACCCCTGG	0.647000														27			17		0	0	1	0	0
CLCN3	1182	broad.mit.edu	37	4	170628254	170628254	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:170628254G>T	uc003ish.3	+	10	2545	c.1986G>T	c.(1984-1986)agG>agT	p.R662S	CLCN3_uc003isi.3_Missense_Mutation_p.R662S|CLCN3_uc011cka.2_Missense_Mutation_p.R635S|CLCN3_uc011cjz.2_Missense_Mutation_p.R645S|CLCN3_uc003isj.2_Missense_Mutation_p.R635S	NM_173872	NP_776297	P51790	CLCN3_HUMAN	Homo sapiens chloride channel 3 (CLCN3), transcript variant e, mRNA.	662	CBS 1.				endosomal lumen acidification	Golgi membrane|cell surface|early endosome membrane|integral to membrane|late endosome membrane|transport vesicle membrane	ATP binding|PDZ domain binding|antiporter activity|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity			breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	29		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)		GACCTCGAAGGAATGATCCTC	0.408000														91			11		0.000673444	0.000715966	1	1	0
VEGFA	7422	broad.mit.edu	37	6	43749754	43749754	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:43749754A>G	uc003owh.3	+	6	1645	c.1147A>G	c.(1147-1149)Aaa>Gaa	p.K383E	VEGFA_uc003owd.3_Missense_Mutation_p.K342E|VEGFA_uc010jyx.3_Intron|VEGFA_uc003owf.3_Missense_Mutation_p.K366E|VEGFA_uc003owg.3_Missense_Mutation_p.K360E|VEGFA_uc003owe.3_Missense_Mutation_p.K342E|VEGFA_uc021yzu.1_Intron|VEGFA_uc003owj.3_Intron|VEGFA_uc003owi.3_Missense_Mutation_p.K342E|VEGFA_uc003owk.3_Intron	NM_001171623	NP_001165094	P15692	VEGFA_HUMAN	Homo sapiens vascular endothelial growth factor A (VEGFA), transcript variant 1, mRNA.	203					basophil chemotaxis|cellular response to hypoxia|induction of positive chemotaxis|platelet activation|platelet degranulation|platelet-derived growth factor receptor signaling pathway|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of cell adhesion|positive regulation of cell division|positive regulation of endothelial cell proliferation|positive regulation of leukocyte migration|positive regulation of mast cell chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|positive regulation of vascular permeability|regulation of cell shape|vascular endothelial growth factor receptor signaling pathway|vasculogenesis	cell surface|extracellular space|membrane|platelet alpha granule lumen	cell surface binding|chemoattractant activity|cytokine activity|fibronectin binding|growth factor activity|heparin binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity|vascular endothelial growth factor receptor 1 binding|vascular endothelial growth factor receptor 2 binding|vascular endothelial growth factor receptor binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	9	all_cancers(18;5.46e-07)|all_epithelial(2;5.96e-08)|Lung NSC(15;0.000157)|all_lung(25;0.000486)|Hepatocellular(11;0.00309)		all cancers(41;0.000413)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0742)|OV - Ovarian serous cystadenocarcinoma(102;0.196)		Atorvastatin(DB01076)|Bevacizumab(DB00112)|Carvedilol(DB01136)|Ginkgo biloba(DB01381)|Gliclazide(DB01120)|Minocycline(DB01017)|Ranibizumab(DB01270)|Simvastatin(DB00641)	GCAGACGTGTAAATGTTCCTG	0.493000														28			20		0	0	1	0	0
IGH	0	broad.mit.edu	37	16	32070599	32070599	+	RNA	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:32070599G>A	uc002ecv.1	+	0		c.52G>A								Homo sapiens IGH mRNA for immunoglobulin heavy chain VHDJ region, partial cds, clone:H233.																		GGGCCTCAGTGAAGGTCTCCT	0.577000														33			13		0	0	1	0	0
PDPR	55066	broad.mit.edu	37	16	70180086	70180086	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:70180086C>A	uc002eyf.1	+	15	2874	c.1917C>A	c.(1915-1917)tcC>tcA	p.S639S	CLEC18A_uc002exy.3_Intron|PDPR_uc010vlr.1_Silent_p.S539S|PDPR_uc002eyg.1_Silent_p.S367S|PDPR_uc002eyh.2_5'UTR|PDPR_uc010vls.1_5'UTR	NM_017990	NP_060460	Q8NCN5	PDPR_HUMAN	Homo sapiens pyruvate dehydrogenase phosphatase regulatory subunit (PDPR), mRNA.	639					glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	aminomethyltransferase activity|oxidoreductase activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33				BRCA - Breast invasive adenocarcinoma(221;0.124)		CTGAGTTGTCCTATGCCCCTA	0.468000														117			23		6.04164e-23	7.85999e-23	1	1	0
ITPR3	3710	broad.mit.edu	37	6	33657132	33657132	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:33657132G>A	uc021ywr.1	+	49	7036	c.6812G>A	c.(6811-6813)cGc>cAc	p.R2271H		NM_002224	NP_002215	Q14573	ITPR3_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 3 (ITPR3), mRNA.	2271					G-protein coupled receptor protein signaling pathway|activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						CTCATCCTGCGCTCCATCTAC	0.582000														39			24		0	0	1	0	0
LRIG2	9860	broad.mit.edu	37	1	113666508	113666508	+	Missense_Mutation	SNP	C	T	T	rs151009293		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:113666508C>T	uc001edf.1	+	17	3181	c.2983C>T	c.(2983-2985)Cgg>Tgg	p.R995W	LRIG2_uc009wgn.1_Missense_Mutation_p.R892W	NM_014813	NP_055628	O94898	LRIG2_HUMAN	Homo sapiens leucine-rich repeats and immunoglobulin-like domains 2 (LRIG2), mRNA.	995						cytoplasm|integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		AACATTGCAGCGGCCCGTGTG	0.418000														14			19		0	0	1	0	0
FAM186B	84070	broad.mit.edu	37	12	49982250	49982250	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:49982250G>T	uc001ruo.3	-	5	2694	c.2521C>A	c.(2521-2523)Ctg>Atg	p.L841M	FAM186B_uc010smk.2_Missense_Mutation_p.L751M	NM_032130	NP_115506	Q8IYM0	F186B_HUMAN	Homo sapiens family with sequence similarity 186, member B (FAM186B), transcript variant 1, mRNA.	841						protein complex				breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GCCATCTGCAGGGGCACACAT	0.637000														55			28		2.65835e-16	3.3677e-16	1	1	0
ARFGEF1	10565	broad.mit.edu	37	8	68123763	68123763	+	Missense_Mutation	SNP	C	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:68123763C>G	uc003xxo.2	-	33	5164	c.4774G>C	c.(4774-4776)Gcg>Ccg	p.A1592P	ARFGEF1_uc003xxl.1_Missense_Mutation_p.A1046P|ARFGEF1_uc003xxn.2_Missense_Mutation_p.A569P	NM_006421	NP_006412	Q9Y6D6	BIG1_HUMAN	Homo sapiens ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited) (ARFGEF1), mRNA.	1592					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			ACAGCAGACGCAGAAACCAGT	0.323000														38			4		0	0	1	0	0
NCDN	23154	broad.mit.edu	37	1	36028080	36028080	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:36028080C>T	uc001bza.3	+	4	1358	c.1231C>T	c.(1231-1233)Cgt>Tgt	p.R411C	NCDN_uc001bzb.3_Missense_Mutation_p.R411C|NCDN_uc001bzc.3_Missense_Mutation_p.R394C	NM_001014839	NP_001014841	Q9UBB6	NCDN_HUMAN	Homo sapiens neurochondrin (NCDN), transcript variant 1, mRNA.	411					neuron projection development	cytosol|dendrite|neuronal cell body		p.R394C(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CTCATCCTTGCGTAAGGAGGT	0.622000														33			22		0	0	1	0	0
ETV4	2118	broad.mit.edu	37	17	41610054	41610054	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:41610054C>T	uc002idw.3	-	7	927	c.799G>A	c.(799-801)Gcc>Acc	p.A267T	ETV4_uc002idv.3_5'Flank|ETV4_uc010wih.2_Missense_Mutation_p.A213T|ETV4_uc010czh.3_Missense_Mutation_p.A266T|ETV4_uc010wii.2_Missense_Mutation_p.A228T|ETV4_uc002idx.3_Missense_Mutation_p.A267T|ETV4_uc010wij.2_Missense_Mutation_p.A228T	NM_001986	NP_001977	P43268	ETV4_HUMAN	Homo sapiens ets variant 4 (ETV4), transcript variant 1, mRNA.	267					positive regulation of transcription, DNA-dependent	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		EWSR1/ETV4(6)|CANT1/ETV4(3)|TMPRSS2/ETV4(13)|DDX5_ENST00000540698/ETV4(2)|KLK2/ETV4(2)	ovary(2)|upper_aerodigestive_tract(1)	3		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.0798)		GAGTCGTAGGCGAAGTCCGTC	0.567000			T	"""EWSR1, TMPRSS2, DDX5, KLK2, CANT1"""	"""Ewing sarcoma, Prostate carcinoma"""									35			15		0	0	1	0	0
CBX4	8535	broad.mit.edu	37	17	77808854	77808854	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:77808854T>C	uc002jxe.3	-	4	750	c.587A>G	c.(586-588)gAc>gGc	p.D196G		NM_003655	NP_003646	O00257	CBX4_HUMAN	Homo sapiens chromobox homolog 4 (CBX4), mRNA.	196	Interaction with BMI1.				anti-apoptosis|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|PcG protein complex	enzyme binding|transcription corepressor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			CGCCCACTTGTCGGGCGGGTG	0.721000											OREG0024799	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		28			20		0	0	1	0	0
FERMT3	83706	broad.mit.edu	37	11	63988555	63988555	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:63988555G>A	uc001nyl.2	+	12	1774	c.1625G>A	c.(1624-1626)cGc>cAc	p.R542H	FERMT3_uc001nym.2_Missense_Mutation_p.R538H	NM_178443	NP_848537	Q86UX7	URP2_HUMAN	Homo sapiens fermitin family member 3 (FERMT3), transcript variant URP2LF, mRNA.	542	FERM.				integrin activation|leukocyte cell-cell adhesion|platelet aggregation|regulation of cell-cell adhesion mediated by integrin	cell junction|cell projection|podosome	integrin binding	p.R542C(1)|p.L541V(1)		breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	18						GCCCAGCTGCGCTTCATCCAG	0.667000														51			20		0	0	1	0	0
PLXNB2	23654	broad.mit.edu	37	22	50722625	50722625	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:50722625G>A	uc003bkv.4	-	12	2292	c.2199C>T	c.(2197-2199)aaC>aaT	p.N733N	PLXNB2_uc003bkt.1_5'Flank|PLXNB2_uc003bku.1_5'Flank	NM_012401	NP_036533	O15031	PLXB2_HUMAN	Homo sapiens plexin B2 (PLXNB2), mRNA.	733					regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GCAGCGTCTCGTTGGCATCGT	0.682000														65			7		0	0	1	0	0
SMARCA1	6594	broad.mit.edu	37	X	128630769	128630769	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:128630769C>A	uc011muk.1	-	11	1697	c.1584G>T	c.(1582-1584)gaG>gaT	p.E528D	SMARCA1_uc004eun.4_Missense_Mutation_p.E528D|SMARCA1_uc004eup.4_Missense_Mutation_p.E528D|SMARCA1_uc011mul.1_Missense_Mutation_p.E528D	NM_003069	NP_003060	P28370	SMCA1_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1 (SMARCA1), transcript variant 1, mRNA.	528	Helicase C-terminal.				ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						GTCGACAATACTCATAACCAC	0.383000														107			14		1.3612e-06	1.54683e-06	1	1	0
COL18A1	80781	broad.mit.edu	37	21	46875554	46875554	+	Missense_Mutation	SNP	A	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:46875554A>T	uc002zhi.3	+	0	131	c.110A>T	c.(109-111)gAc>gTc	p.D37V	COL18A1_uc002zhg.3_Intron	NM_030582	NP_085059	P39060	COIA1_HUMAN	Homo sapiens collagen, type XVIII, alpha 1 (COL18A1), transcript variant 1, mRNA.	37					cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		AATAATGAGGACACCAGCCAT	0.627000														49			22		0	0	1	0	0
KIF13A	63971	broad.mit.edu	37	6	17771432	17771432	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:17771432C>T	uc003ncg.4	-	37	4654	c.4494G>A	c.(4492-4494)caG>caA	p.Q1498Q	KIF13A_uc003ncf.3_Intron|KIF13A_uc003nch.4_Intron|KIF13A_uc003nci.4_Intron|KIF13A_uc003nce.2_Intron	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	Homo sapiens kinesin family member 13A (KIF13A), transcript variant 1, mRNA.	1498					Golgi to plasma membrane protein transport|cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			GGTTATGTGCCTGAGGTGGAG	0.453000														10			5		0	0	1	0	0
PPEF1	5475	broad.mit.edu	37	X	18768031	18768031	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:18768031G>A	uc004cyq.3	+	6	838	c.357G>A	c.(355-357)acG>acA	p.T119T	PPEF1_uc004cyp.3_Silent_p.T119T|PPEF1_uc004cyr.3_Silent_p.T119T|PPEF1_uc004cys.3_Silent_p.T119T|PPEF1_uc011mja.2_Silent_p.T54T|PPEF1_uc011mjb.2_Silent_p.T63T	NM_006240	NP_006231	O14829	PPE1_HUMAN	Homo sapiens protein phosphatase, EF-hand calcium binding domain 1 (PPEF1), transcript variant 1, mRNA.	119					detection of stimulus involved in sensory perception|protein dephosphorylation		calcium ion binding|iron ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity			breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	43	Hepatocellular(33;0.183)					TCACTTGTACGGATATTGATT	0.433000														115			66		0	0	1	0	0
SLC37A2	219855	broad.mit.edu	37	11	124947386	124947386	+	Silent	SNP	C	T	T	rs146902663	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:124947386C>T	uc010sau.2	+	3	527	c.276C>T	c.(274-276)aaC>aaT	p.N92N	SLC37A2_uc001qbn.3_Silent_p.N92N	NM_198277	NP_938018	Q8TED4	SPX2_HUMAN	Homo sapiens solute carrier family 37 (glycerol-3-phosphate transporter), member 2 (SLC37A2), transcript variant 1, mRNA.	92					carbohydrate transport|transmembrane transport	integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	27	all_hematologic(175;0.215)	Breast(109;0.012)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.152)|all_lung(97;0.159)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0384)		GCGTGGACAACGCCTTCCTCA	0.537000														25			20		0	0	1	0	0
NEO1	4756	broad.mit.edu	37	15	73567057	73567057	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:73567057A>G	uc002avm.4	+	20	3377	c.3185A>G	c.(3184-3186)aAt>aGt	p.N1062S	NEO1_uc010ukx.2_Intron|NEO1_uc010uky.2_Missense_Mutation_p.N1062S|NEO1_uc002avn.4_Intron|NEO1_uc010ukz.2_Intron	NM_002499	NP_002490	Q92859	NEO1_HUMAN	Homo sapiens neogenin 1 (NEO1), transcript variant 1, mRNA.	1062					axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						AAAATGCCTAATGATCAAGGT	0.378000														129			13		0	0	1	0	0
COL5A2	1290	broad.mit.edu	37	2	189899862	189899862	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:189899862T>C	uc002uqk.3	-	52	4408	c.4133A>G	c.(4132-4134)cAa>cGa	p.Q1378R	COL5A2_uc010frx.3_Missense_Mutation_p.Q954R	NM_000393	NP_000384	P05997	CO5A2_HUMAN	Homo sapiens collagen, type V, alpha 2 (COL5A2), mRNA.	1378	Fibrillar collagen NC1.				axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			ATTAGGTGATTGGTGGTCTCC	0.358000														58			6		0	0	1	0	0
NSMAF	8439	broad.mit.edu	37	8	59498525	59498525	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:59498525G>A	uc011lee.2	-	28	2635	c.2574C>T	c.(2572-2574)ggC>ggT	p.G858G	NSMAF_uc003xtt.3_Silent_p.G827G	NM_001144772	NP_001138244	Q92636	FAN_HUMAN	Homo sapiens neutral sphingomyelinase (N-SMase) activation associated factor (NSMAF), transcript variant 2, mRNA.	827					ceramide metabolic process	cytoplasm|soluble fraction	protein binding|receptor signaling protein activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38		all_lung(136;0.174)|Lung NSC(129;0.2)				cattaagacagccatctgttc	0.463000														56			33		0	0	1	0	0
CLDN19	149461	broad.mit.edu	37	1	43204139	43204139	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:43204139G>A	uc001cht.1	-	1	532	c.341C>T	c.(340-342)gCc>gTc	p.A114V	CLDN19_uc001chu.2_Missense_Mutation_p.A114V|CLDN19_uc010ojv.1_Missense_Mutation_p.A114V	NM_148960	NP_683763	Q8N6F1	CLD19_HUMAN	Homo sapiens claudin 19 (CLDN19), transcript variant 1, mRNA.	114					calcium-independent cell-cell adhesion|response to stimulus|visual perception	basolateral plasma membrane|integral to membrane|tight junction	identical protein binding			breast(2)|large_intestine(1)|lung(2)|skin(1)	6	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				ACGGCCCTTGGCAATGGGGTT	0.652000														21			16		0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176679142	176679142	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:176679142T>C	uc001gkz.3	+	10	4645	c.3481T>C	c.(3481-3483)Tat>Cat	p.Y1161H	PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	1161					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TTGCTACATGTATGAGGGAGA	0.418000														80			21		0	0	1	0	0
SLC9A3R2	9351	broad.mit.edu	37	16	2087922	2087922	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:2087922A>G	uc002coi.3	+	6	1089	c.951A>G	c.(949-951)cgA>cgG	p.R317R	TCRBV20S1_uc021tak.1_Intron|SLC9A3R2_uc002coj.3_Silent_p.R306R|SLC9A3R2_uc021tan.1_Silent_p.R195R|SLC9A3R2_uc002cok.3_Silent_p.R206R|SLC9A3R2_uc021tao.1_Silent_p.R204R	NM_001130012	NP_001123484	Q15599	NHRF2_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 3 regulator 2 (SLC9A3R2), transcript variant 1, mRNA.	317					protein complex assembly	apical plasma membrane|endomembrane system|nucleus	beta-catenin binding|phosphatase binding|protein C-terminus binding|receptor binding			central_nervous_system(1)|endometrium(1)	2						GAGCCATGCGAGTCAACAAGC	0.637000														8			6		0	0	1	0	0
LMTK2	22853	broad.mit.edu	37	7	97822821	97822821	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:97822821C>A	uc003upd.2	+	10	3337	c.3044C>A	c.(3043-3045)tCt>tAt	p.S1015Y		NM_014916	NP_055731	Q8IWU2	LMTK2_HUMAN	Homo sapiens lemur tyrosine kinase 2 (LMTK2), mRNA.	1015					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	Golgi apparatus|early endosome|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					TCTTTAGGATCTCACACTCCC	0.587000														105			7		0.0293803	0.0299714	1	1	0
WAPAL	23063	broad.mit.edu	37	10	88218790	88218790	+	Silent	SNP	G	A	A	rs143256744	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:88218790G>A	uc001kdn.3	-	12	2733	c.2724C>T	c.(2722-2724)taC>taT	p.Y908Y	WAPAL_uc009xsv.3_Silent_p.Y185Y|WAPAL_uc001kdo.3_Silent_p.Y871Y|WAPAL_uc009xsw.3_Silent_p.Y865Y	NM_015045	NP_055860	Q7Z5K2	WAPL_HUMAN	Homo sapiens wings apart-like homolog (Drosophila) (WAPAL), mRNA.	871	WAPL.				cell division|interspecies interaction between organisms|mitosis|negative regulation of DNA replication|negative regulation of chromatin binding|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin	chromatin|cohesin complex|cytoplasm	protein binding	p.Y871Y(1)		breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						ATGCTATCAAGTAGCTTTGAT	0.284000														44			22		0	0	1	0	0
TJP1	7082	broad.mit.edu	37	15	30003154	30003154	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:30003154C>T	uc001zcr.3	-	23	4728	c.4253G>A	c.(4252-4254)cGc>cAc	p.R1418H	TJP1_uc010azl.3_Missense_Mutation_p.R1406H|TJP1_uc001zcq.3_Missense_Mutation_p.R1342H|TJP1_uc001zcs.3_Missense_Mutation_p.R1338H	NM_003257	NP_003248	Q07157	ZO1_HUMAN	Homo sapiens tight junction protein 1 (zona occludens 1) (TJP1), transcript variant 1, mRNA.	1418					cell-cell junction assembly|cellular component disassembly involved in apoptosis	Golgi apparatus|basolateral plasma membrane|cell-cell adherens junction|tight junction				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		GGGTTCATAGCGTTTCTCGCC	0.507000														91			56		0	0	1	0	0
NYAP2	57624	broad.mit.edu	37	2	226516267	226516267	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:226516267G>A	uc002voe.2	+	5	2123	c.1948G>A	c.(1948-1950)Gcc>Acc	p.A650T	NYAP2_uc010fxa.1_3'UTR|NYAP2_uc002vof.1_Intron	NM_020864	NP_065915	Q9P242	K1486_HUMAN	Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 (NYAP2), mRNA.	650																	ATCATCGTTAGCCAATCGTGA	0.498000														131			88		0	0	1	0	0
HIRA	7290	broad.mit.edu	37	22	19381928	19381928	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:19381928G>A	uc002zpf.1	-	7	979	c.759C>T	c.(757-759)atC>atT	p.I253I	HIRA_uc011agx.1_Silent_p.I119I|HIRA_uc010grn.1_Silent_p.I253I|HIRA_uc010gro.2_Silent_p.I209I|HIRA_uc010grp.3_Non-coding_Transcript	NM_003325	NP_003316	P54198	HIRA_HUMAN	Homo sapiens HIR histone cell cycle regulation defective homolog A (S. cerevisiae) (HIRA), mRNA.	253					chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					CCTCCCGTTCGATGATCTGGG	0.572000														50			5		0	0	1	0	0
FBN1	2200	broad.mit.edu	37	15	48707780	48707780	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:48707780G>A	uc001zwx.2	-	63	8399	c.8004C>T	c.(8002-8004)ggC>ggT	p.G2668G	FBN1_uc010beo.2_Non-coding_Transcript	NM_000138	NP_000129	P35555	FBN1_HUMAN	Homo sapiens fibrillin 1 (FBN1), mRNA.	2668	EGF-like 47; calcium-binding.		G -> C (in MFS).		heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	p.G2668G(2)|p.G2668C(1)		NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		ACAGGTAACCGCCCTCGGTAT	0.522000														53			25		0	0	1	0	0
ZNF777	27153	broad.mit.edu	37	7	149152973	149152973	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:149152973A>G	uc003wfv.3	-	1	304	c.141T>C	c.(139-141)tcT>tcC	p.S47S		NM_015694	NP_056509	Q9ULD5	ZN777_HUMAN	Homo sapiens zinc finger protein 777 (ZNF777), mRNA.	47					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			GAATGGTGGGAGACAAAGAAG	0.557000														113			6		0	0	1	0	0
JPH1	56704	broad.mit.edu	37	8	75227367	75227367	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:75227367G>A	uc003yae.3	-	1	908	c.868C>T	c.(868-870)Cgc>Tgc	p.R290C	JPH1_uc003yaf.3_Missense_Mutation_p.R290C|JPH1_uc003yag.1_Missense_Mutation_p.R154C	NM_020647	NP_065698	Q9HDC5	JPH1_HUMAN	Homo sapiens junctophilin 1 (JPH1), mRNA.	290					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane				endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			AAGCCGTTGCGCTTGTCGTTC	0.537000														55			43		0	0	1	0	0
SLC25A14	9016	broad.mit.edu	37	X	129492622	129492622	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:129492622G>A	uc004evr.1	+	5	670	c.498G>A	c.(496-498)atG>atA	p.M166I	SLC25A14_uc010nrg.3_Missense_Mutation_p.M166I|SLC25A14_uc011mut.2_Missense_Mutation_p.A106T|SLC25A14_uc011muu.2_Missense_Mutation_p.M169I|SLC25A14_uc004evp.1_Missense_Mutation_p.M169I|SLC25A14_uc004evq.1_Missense_Mutation_p.M166I	NM_022810	NP_073721	O95258	UCP5_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier, brain), member 14 (SLC25A14), nuclear gene encoding mitochondrial protein, transcript variant short, mRNA.	169					aerobic respiration|mitochondrial transport	integral to plasma membrane|mitochondrial inner membrane	binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)	22						AGATTCGAATGCAGGCTCAAG	0.358000														47			31		0	0	1	0	0
FRMPD4	9758	broad.mit.edu	37	X	12701657	12701657	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:12701657C>A	uc004cuz.2	+	5	1030	c.524C>A	c.(523-525)cCt>cAt	p.P175H	FRMPD4_uc011mij.2_Missense_Mutation_p.P167H	NM_014728	NP_055543	Q14CM0	FRPD4_HUMAN	Homo sapiens FERM and PDZ domain containing 4 (FRMPD4), mRNA.	175					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						AAGTCCAATCCTGTCAAAGTA	0.413000														32			26		1.32181e-22	1.71781e-22	1	1	0
RPS6KB1	6198	broad.mit.edu	37	17	58024066	58024066	+	Nonsense_Mutation	SNP	C	T	T	rs149039467		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:58024066C>T	uc002ixy.3	+	14	1598	c.1495C>T	c.(1495-1497)Cga>Tga	p.R499*	RPS6KB1_uc010ddj.2_Intron|RPS6KB1_uc010wom.2_Nonsense_Mutation_p.R446*|RPS6KB1_uc010won.2_Nonsense_Mutation_p.R476*|RPS6KB1_uc010woo.2_Nonsense_Mutation_p.R434*	NM_003161	NP_003152	P23443	KS6B1_HUMAN	Homo sapiens ribosomal protein S6 kinase, 70kDa, polypeptide 1 (RPS6KB1), mRNA.	499	Autoinhibitory domain.				G1/S transition of mitotic cell cycle|TOR signaling cascade|apoptosis|insulin receptor signaling pathway|negative regulation of apoptosis|phosphatidylinositol-mediated signaling|positive regulation of mitotic cell cycle|positive regulation of translational initiation	cell junction|cytoplasm|cytosol|mitochondrial outer membrane|nucleus|synapse|synaptosome	ATP binding|protein binding|protein kinase activity			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	14	all_cancers(5;1.63e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.57e-12)|all cancers(12;6.41e-11)			ACTTCCAATACGACAGCCGAA	0.473000														32			17		0	0	1	0	0
HMHA1	23526	broad.mit.edu	37	19	1080929	1080929	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:1080929G>A	uc002lqz.1	+	16	2287	c.2056G>A	c.(2056-2058)Gtg>Atg	p.V686M	HMHA1_uc010xgd.1_Missense_Mutation_p.V702M|HMHA1_uc010xge.1_Missense_Mutation_p.V554M|HMHA1_uc002lra.1_Missense_Mutation_p.V526M|HMHA1_uc002lrb.1_Missense_Mutation_p.V569M|HMHA1_uc002lrc.1_Missense_Mutation_p.V321M	NM_012292	NP_036424	Q92619	HMHA1_HUMAN	Homo sapiens histocompatibility (minor) HA-1 (HMHA1), mRNA.	686					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCGGTGGCCGTGCCCAGTGG	0.706000														10			3		0	0	1	0	0
GPR89B	51463	broad.mit.edu	37	1	147408777	147408777	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:147408777C>T	uc001epv.4	+	1	223	c.79C>T	c.(79-81)Cgc>Tgc	p.R27C	GPR89B_uc010ozs.1_Missense_Mutation_p.R27C|GPR89B_uc010ozt.2_Missense_Mutation_p.R2C|GPR89B_uc010ozu.2_5'UTR|GPR89B_uc001epw.4_5'UTR|GPR89B_uc010ozv.2_Missense_Mutation_p.R2C	NM_016334	NP_001091082	B7ZAQ6	GPHRA_HUMAN	Homo sapiens G protein-coupled receptor 89B (GPR89B), mRNA.	27					intracellular pH reduction|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein transport	Golgi cisterna membrane|Golgi-associated vesicle membrane|integral to membrane	signal transducer activity|voltage-gated anion channel activity			large_intestine(1)	1	all_hematologic(923;0.0276)					TTTCTTCATGCGCCAATTGTT	0.299000														55			48		0	0	1	0	0
MYCBP2	23077	broad.mit.edu	37	13	77671996	77671996	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:77671996T>C	uc021rks.1	-	55	9560	c.9293A>G	c.(9292-9294)aAt>aGt	p.N3098S	MYCBP2_uc010aev.3_Missense_Mutation_p.N2464S|MYCBP2_uc001vkg.1_Missense_Mutation_p.N583S|MYCBP2_uc010aew.3_Missense_Mutation_p.N446S	NM_015057	NP_055872	O75592	MYCB2_HUMAN	Homo sapiens MYC binding protein 2 (MYCBP2), mRNA.	3060					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		ATTAAACATATTCAGTGCAGA	0.353000														67			29		0	0	1	0	0
NHS	4810	broad.mit.edu	37	X	17744111	17744111	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:17744111T>C	uc011mix.2	+	6	2223	c.1885T>C	c.(1885-1887)Tca>Cca	p.S629P	NHS_uc004cxx.3_Missense_Mutation_p.S608P|NHS_uc004cxy.3_Missense_Mutation_p.S452P|NHS_uc004cxz.3_Missense_Mutation_p.S431P|NHS_uc004cya.3_Missense_Mutation_p.S331P	NM_001136024	NP_001129496	Q6T4R5	NHS_HUMAN	Homo sapiens Nance-Horan syndrome (congenital cataracts and dental anomalies) (NHS), transcript variant 2, mRNA.	608						nucleus				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					TGACCACCAGTCATCCAGTGG	0.587000														48			36		0	0	1	0	0
DAPK1	1612	broad.mit.edu	37	9	90273032	90273032	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:90273032C>T	uc004apc.3	+	17	2051	c.1913C>T	c.(1912-1914)gCg>gTg	p.A638V	DAPK1_uc004apd.3_Missense_Mutation_p.A638V|DAPK1_uc011ltg.2_Missense_Mutation_p.A638V|DAPK1_uc011lth.2_Missense_Mutation_p.A375V|DAPK1_uc004apf.1_Missense_Mutation_p.A192V	NM_004938	NP_004929	P53355	DAPK1_HUMAN	Homo sapiens death-associated protein kinase 1 (DAPK1), mRNA.	638					apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						AGCGTTGAGGCGCTGACCACG	0.627000									Chronic Lymphocytic Leukemia, Familial Clustering of					4			4		0	0	1	0	0
KIF3A	11127	broad.mit.edu	37	5	132038596	132038596	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:132038596C>A	uc011cxf.2	-	12	1782	c.1628G>T	c.(1627-1629)aGa>aTa	p.R543I	KIF3A_uc003kxm.3_Missense_Mutation_p.R98I|KIF3A_uc003kxn.3_Missense_Mutation_p.R501I|KIF3A_uc003kxo.3_Missense_Mutation_p.R516I|KIF3A_uc003kxp.3_Missense_Mutation_p.R519I	NM_007054	NP_008985	Q9Y496	KIF3A_HUMAN	Homo sapiens kinesin family member 3A (KIF3A), mRNA.	516					blood coagulation|organelle organization|plus-end-directed vesicle transport along microtubule	centrosome|cytosol|kinesin II complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|protein binding			endometrium(1)|kidney(4)|large_intestine(8)|lung(3)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	25		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTCAAGTTCTCTGCGAAGTTG	0.383000														224			16		5.3912e-06	6.03622e-06	1	1	0
MAGEB2	4113	broad.mit.edu	37	X	30237282	30237282	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:30237282C>A	uc022buf.1	+	0	585	c.585C>A	c.(583-585)tcC>tcA	p.S195S	MAGEB2_uc004dbz.3_Silent_p.S195S	NM_002364	NP_002355	O15479	MAGB2_HUMAN	Homo sapiens melanoma antigen family B, 2 (MAGEB2), mRNA.	195	MAGE.						protein binding			breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1)	23						TGCTCAGTTCCTGGGACTTTC	0.483000														17			8		0.000442599	0.000473562	1	1	0
PPFIA2	8499	broad.mit.edu	37	12	81676815	81676815	+	Nonsense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:81676815C>A	uc001szo.2	-	25	3153	c.2992G>T	c.(2992-2994)Gaa>Taa	p.E998*	PPFIA2_uc010sug.2_Non-coding_Transcript|PPFIA2_uc021rbg.1_Nonsense_Mutation_p.E903*|PPFIA2_uc021rbh.1_Nonsense_Mutation_p.E899*|PPFIA2_uc021rbi.1_Nonsense_Mutation_p.E998*|PPFIA2_uc021rbj.1_Nonsense_Mutation_p.E977*|PPFIA2_uc021rbk.1_Nonsense_Mutation_p.E983*|PPFIA2_uc021rbl.1_Nonsense_Mutation_p.E998*|PPFIA2_uc010sue.2_Intron|PPFIA2_uc021rbe.1_Intron|PPFIA2_uc021rbf.1_Intron	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 (PPFIA2), transcript variant 1, mRNA.	903										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						TCCTCAGATTCTTTCTGTGTT	0.318000														16			9		0.000442599	0.000473562	1	1	0
COL12A1	1303	broad.mit.edu	37	6	75893332	75893332	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:75893332A>G	uc021zbv.1	-	8	1360	c.1325T>C	c.(1324-1326)gTg>gCg	p.V442A	COL12A1_uc021zbw.1_Intron|COL12A1_uc003phs.3_Missense_Mutation_p.V442A|COL12A1_uc003pht.3_Intron|COL12A1_uc003phu.1_Missense_Mutation_p.V100A	NM_004370	NP_004361	Q99715	COCA1_HUMAN	Homo sapiens collagen, type XII, alpha 1 (COL12A1), transcript variant long, mRNA.	442	VWFA 2.			IV -> M (in Ref. 4; AAC01506).	cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						AACCAAAAACACAATATCGGC	0.299000														72			41		0	0	1	0	0
CTTNBP2	83992	broad.mit.edu	37	7	117432640	117432640	+	Nonsense_Mutation	SNP	T	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:117432640T>A	uc003vjf.3	-	3	702	c.610A>T	c.(610-612)Aaa>Taa	p.K204*		NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN	Homo sapiens cortactin binding protein 2 (CTTNBP2), mRNA.	204										breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		TTCGTCTTTTTCTTTTCCTCT	0.463000														58			63		0	0	1	0	0
SRPR	6734	broad.mit.edu	37	11	126136713	126136713	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:126136713G>A	uc001qdh.3	-	4	809	c.631C>T	c.(631-633)Cgc>Tgc	p.R211C	SRPR_uc010sbm.2_Missense_Mutation_p.R183C|FOXRED1_uc001qdi.3_5'Flank|FOXRED1_uc010sbn.2_5'Flank|FOXRED1_uc010sbq.2_5'Flank|FOXRED1_uc010sbo.2_5'Flank|FOXRED1_uc010sbp.2_5'Flank|FOXRED1_uc010sbr.2_5'Flank	NM_003139	NP_003130	P08240	SRPR_HUMAN	Homo sapiens signal recognition particle receptor (docking protein) (SRPR), transcript variant 1, mRNA.	211					SRP-dependent cotranslational protein targeting to membrane	integral to membrane|signal recognition particle receptor complex	GTP binding|GTPase activity|receptor activity|signal recognition particle binding			endometrium(7)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)	21	all_hematologic(175;0.145)			BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736)		CGCTTCCTGCGGATCAGCTCC	0.498000														128			82		0	0	1	0	0
ANGPT4	51378	broad.mit.edu	37	20	896851	896851	+	Missense_Mutation	SNP	A	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:896851A>T	uc002wei.3	-	0	110	c.7T>A	c.(7-9)Tcc>Acc	p.S3T	ANGPT4_uc010zpn.2_5'UTR	NM_015985	NP_057069	Q9Y264	ANGP4_HUMAN	Homo sapiens angiopoietin 4 (ANGPT4), mRNA.	3					anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						GCTAGCTGGGAGAGCATCTGA	0.607000														31			6		0	0	1	0	0
CEBPZ	10153	broad.mit.edu	37	2	37450453	37450453	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:37450453G>A	uc002rpz.3	-	2	1771	c.1741C>T	c.(1741-1743)Cgc>Tgc	p.R581C		NM_005760	NP_005751	Q03701	CEBPZ_HUMAN	Homo sapiens CCAAT/enhancer binding protein (C/EBP), zeta (CEBPZ), mRNA.	581					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding			breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28		all_hematologic(82;0.21)				TTCACCCGGCGCAACACAATG	0.418000														58			30		0	0	1	0	0
GAB3	139716	broad.mit.edu	37	X	153941611	153941611	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153941611G>T	uc004fmk.1	-	2	515	c.467C>A	c.(466-468)tCt>tAt	p.S156Y	GAB3_uc004fmj.1_Missense_Mutation_p.S155Y|GAB3_uc010nve.1_Missense_Mutation_p.S156Y|GAB3_uc004fml.1_5'UTR	NM_001081573	NP_001075042	Q8WWW8	GAB3_HUMAN	Homo sapiens GRB2-associated binding protein 3 (GAB3), transcript variant 1, mRNA.	155										NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)	25	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TCTTGGCAAAGAGGAGCTGGC	0.527000														119			16		5.35267e-07	6.12308e-07	1	1	0
TBC1D24	57465	broad.mit.edu	37	16	2547099	2547099	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:2547099C>T	uc002cql.3	+	1	1090	c.950C>T	c.(949-951)aCc>aTc	p.T317I	TBC1D24_uc002cqk.3_Missense_Mutation_p.T317I|TBC1D24_uc002cqm.3_Missense_Mutation_p.T317I|TBC1D24_uc010bsm.3_5'Flank	NM_001199107	NP_001186036	Q9ULP9	TBC24_HUMAN	Homo sapiens TBC1 domain family, member 24 (TBC1D24), transcript variant 1, mRNA.	317					neuron projection development	cytoplasm	Rab GTPase activator activity|protein binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(4)	13						AAGGGCATCACCGTGAAGCAG	0.632000														45			6		0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196651789	196651789	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:196651789T>G	uc002utj.4	-	57	10924	c.10823A>C	c.(10822-10824)gAg>gCg	p.E3608A	DNAH7_uc002uti.4_Missense_Mutation_p.E91A	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	3608	AAA 6 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CAGATCTGTCTCATTGAACTC	0.403000														68			46		0	0	1	0	0
MAP3K2	10746	broad.mit.edu	37	2	128072388	128072388	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:128072388C>T	uc002toj.2	-	13	1498	c.1398G>A	c.(1396-1398)caG>caA	p.Q466Q		NM_006609	NP_006600	Q9Y2U5	M3K2_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 2 (MAP3K2), mRNA.	466	Protein kinase.				activation of JUN kinase activity|cellular response to mechanical stimulus	nucleus	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein kinase binding	p.T465S(1)		central_nervous_system(1)|large_intestine(1)|lung(3)|ovary(2)	7	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0706)		CCTCCAGAATCTGACGGGTGT	0.343000														15			7		0	0	1	0	0
ADCY9	115	broad.mit.edu	37	16	4027578	4027578	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:4027578G>A	uc002cvx.3	-	8	3272	c.2733C>T	c.(2731-2733)aaC>aaT	p.N911N		NM_001116	NP_001107	O60503	ADCY9_HUMAN	Homo sapiens adenylate cyclase 9 (ADCY9), mRNA.	911					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	ATP binding|adenylate cyclase activity|metal ion binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						GCTGGCAGAAGTTACAGTAGT	0.662000														8			8		0	0	1	0	0
REV3L	5980	broad.mit.edu	37	6	111697474	111697474	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:111697474C>T	uc003puy.4	-	12	2425	c.2084G>A	c.(2083-2085)cGt>cAt	p.R695H	REV3L_uc003pux.4_Missense_Mutation_p.R617H|REV3L_uc003puz.4_Missense_Mutation_p.R617H	NM_002912	NP_002903	O60673	DPOLZ_HUMAN	Homo sapiens REV3-like, catalytic subunit of DNA polymerase zeta (yeast) (REV3L), mRNA.	695					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		GTTAGGGTGACGGTGCATATG	0.313000								DNA polymerases (catalytic subunits)						32			20		0	0	1	0	0
GRM6	2916	broad.mit.edu	37	5	178416035	178416035	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:178416035G>A	uc003mjr.3	-	5	1434	c.1255C>T	c.(1255-1257)Cac>Tac	p.H419Y	GRM6_uc010jla.1_Missense_Mutation_p.H2Y|GRM6_uc003mjs.1_Missense_Mutation_p.H39Y	NM_000843	NP_000834	O15303	GRM6_HUMAN	Homo sapiens glutamate receptor, metabotropic 6 (GRM6), mRNA.	419					detection of visible light|visual perception	integral to plasma membrane				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		AGCGCCTGGTGCATGCTGTGG	0.627000														12			6		0	0	1	0	0
CHRNA5	1138	broad.mit.edu	37	15	78882475	78882475	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:78882475C>T	uc002bdy.3	+	4	942	c.742C>T	c.(742-744)Cgc>Tgc	p.R248C		NM_000745	NP_000736	P30532	ACHA5_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 5 (CHRNA5), mRNA.	248					behavioral response to nicotine	cell junction|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)|skin(3)	15						TGTAATCAAGCGCCTGCCTCT	0.408000														59			39		0	0	1	0	0
OR56A4	120793	broad.mit.edu	37	11	6023849	6023849	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6023849C>T	uc010qzv.2	-	0	530	c.530G>A	c.(529-531)cGt>cAt	p.R177H		NM_001005179	NP_001005179	Q8NGH8	O56A4_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily A, member 4 (OR56A4), mRNA.	125					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGCCACATAACGGTCATAGGC	0.502000														18			10		0	0	1	0	0
FEZ1	9638	broad.mit.edu	37	11	125359496	125359496	+	Nonsense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:125359496C>A	uc001qbx.3	-	1	413	c.178G>T	c.(178-180)Gag>Tag	p.E60*	FEZ1_uc010sbc.2_Nonsense_Mutation_p.E60*|FEZ1_uc001qby.2_Nonsense_Mutation_p.E60*|FEZ1_uc021qrv.1_Nonsense_Mutation_p.E60*	NM_005103	NP_005094	Q99689	FEZ1_HUMAN	Homo sapiens fasciculation and elongation protein zeta 1 (zygin I) (FEZ1), transcript variant 1, mRNA.	60					axon guidance|cell adhesion|transport	microtubule|plasma membrane				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	24	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0934)		ACGAGGTCCTCCATGGACTTG	0.483000														81			14		0.00185496	0.0019572	1	1	0
TAS2R9	50835	broad.mit.edu	37	12	10962216	10962216	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:10962216C>T	uc001qyx.3	-	0	552	c.459G>A	c.(457-459)tgG>tgA	p.W153*	TAS2R8_uc010shh.2_5'Flank	NM_023917	NP_076406	Q9NYW1	TA2R9_HUMAN	Homo sapiens taste receptor, type 2, member 9 (TAS2R9), mRNA.	153					sensory perception of taste	integral to membrane	taste receptor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						AAAGGTGATACCACATATCAT	0.378000														44			7		0	0	1	0	0
PKNOX1	5316	broad.mit.edu	37	21	44445056	44445056	+	Splice_Site	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:44445056T>G	uc002zcq.1	+	9	1114	c.926_splice	c.e9+1	p.W309_splice	PKNOX1_uc002zcp.1_Splice_Site_p.W309_splice|PKNOX1_uc011aex.1_Splice_Site_p.W192_splice	NM_004571	NP_004562	P55347	PKNX1_HUMAN	Homo sapiens PBX/knotted 1 homeobox 1 (PKNOX1), mRNA.	309							sequence-specific DNA binding			cervix(3)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|prostate(1)	22						AGTCAACAACTGGTAAGGTGC	0.438000														34			27		0	0	1	0	0
OR5M3	219482	broad.mit.edu	37	11	56237886	56237886	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:56237886G>A	uc010rjk.2	-	0	129	c.88C>T	c.(88-90)Ctt>Ttt	p.L30F	OR8U8_uc001nit.2_Intron	NM_001004742	NP_001004742	Q8NGP4	OR5M3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 3 (OR5M3), mRNA.	30					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					TAGACCACAAGAAAGATGATG	0.433000														56			35		0	0	1	0	0
RNF113B	140432	broad.mit.edu	37	13	98828639	98828639	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:98828639G>A	uc001vnk.3	-	0	883	c.852C>T	c.(850-852)ttC>ttT	p.F284F	FARP1_uc001vnh.3_Intron|FARP1_uc001vni.3_Intron|FARP1_uc001vnj.3_Intron	NM_178861	NP_849192	Q8IZP6	R113B_HUMAN	Homo sapiens ring finger protein 113B (RNF113B), mRNA.	284							nucleic acid binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.13)			GGGTGGCCCGGAAGTGCTCCA	0.557000														44			43		0	0	1	0	0
SLC26A7	115111	broad.mit.edu	37	8	92330558	92330558	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:92330558C>A	uc003yez.3	+	4	831	c.592C>A	c.(592-594)Ctc>Atc	p.L198I	SLC26A7_uc003yex.3_Missense_Mutation_p.L198I|SLC26A7_uc003yey.3_Non-coding_Transcript|SLC26A7_uc003yfa.3_Missense_Mutation_p.L198I	NM_134266	NP_599028	Q8TE54	S26A7_HUMAN	Homo sapiens solute carrier family 26, member 7 (SLC26A7), transcript variant 2, mRNA.	198						basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			AGTCAAATATCTCTTGGGAAT	0.443000														80			8		5.18039e-06	5.80246e-06	1	1	0
CAD	790	broad.mit.edu	37	2	27456617	27456617	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:27456617G>A	uc002rji.3	+	20	3502	c.3340G>A	c.(3340-3342)Gca>Aca	p.A1114T	CAD_uc010eyw.3_Missense_Mutation_p.A1051T	NM_004341	NP_004332	P27708	PYR1_HUMAN	Homo sapiens carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase (CAD), mRNA.	1114	ATP-grasp 2.|CPSase (Carbamoyl-phosphate synthase).|CPSase B.				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	ATP binding|aspartate binding|aspartate carbamoyltransferase activity|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity	p.S1113S(1)		NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	CCTGAGCAGCGCAGCAGCCGT	0.607000														35			23		0	0	1	0	0
ESPNP	284729	broad.mit.edu	37	1	17017756	17017756	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:17017756C>T	uc001azn.1	-	10	1972	c.1858G>A	c.(1858-1860)Gcc>Acc	p.A620T						Homo sapiens espin pseudogene (ESPNP), non-coding RNA.																		CACCTCCAGGCGGGCATGCTG	0.662000														14			5		0	0	1	0	0
ALS2CR8	79800	broad.mit.edu	37	2	203807607	203807607	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:203807607G>A	uc002uzo.2	+	3	503	c.223G>A	c.(223-225)Gca>Aca	p.A75T	ALS2CR8_uc002uzn.3_Intron|ALS2CR8_uc002uzm.3_Missense_Mutation_p.A75T|ALS2CR8_uc010zhy.1_Missense_Mutation_p.A75T|ALS2CR8_uc010zhz.1_Non-coding_Transcript|ALS2CR8_uc010ftu.1_Non-coding_Transcript|ALS2CR8_uc010zia.1_Intron|ALS2CR8_uc010zib.1_Intron|ALS2CR8_uc010zic.1_Intron|ALS2CR8_uc002uzp.2_Missense_Mutation_p.A75T	NM_001104586	NP_079020	Q8N187	AL2S8_HUMAN	Homo sapiens amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 8 (ALS2CR8), mRNA.	75										breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	20						GACTCTTTCTGCAGAGCAATT	0.413000														52			5		0	0	1	0	0
LSM12	124801	broad.mit.edu	37	17	42113579	42113579	+	Silent	SNP	G	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:42113579G>C	uc002iev.3	-	5	908	c.585C>G	c.(583-585)tcC>tcG	p.S195S	LSM12_uc010wit.2_3'UTR	NM_152344	NP_689557	Q3MHD2	LSM12_HUMAN	Homo sapiens LSM12 homolog (S. cerevisiae) (LSM12), mRNA.	195							protein binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)	6		Breast(137;0.0313)|Prostate(33;0.0861)		BRCA - Breast invasive adenocarcinoma(366;0.115)		TACGGACTCAGGATGACAGGG	0.542000														26			5		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82764321	82764321	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:82764321C>T	uc003uhx.2	-	2	2834	c.2545G>A	c.(2545-2547)Gta>Ata	p.V849I	PCLO_uc003uhv.2_Missense_Mutation_p.V849I	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	795	Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.P848P(1)|p.P848S(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTCTTTTGTACGGGGTCAACT	0.453000														213			76		0	0	1	0	0
SPATA18	132671	broad.mit.edu	37	4	52927056	52927056	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:52927056C>T	uc003gzl.3	+	2	580	c.302C>T	c.(301-303)tCt>tTt	p.S101F	SPATA18_uc010igl.1_Non-coding_Transcript|SPATA18_uc011bzq.2_Missense_Mutation_p.S101F|SPATA18_uc003gzk.1_Missense_Mutation_p.S101F	NM_145263	NP_660306	Q8TC71	MIEAP_HUMAN	Homo sapiens spermatogenesis associated 18 (SPATA18), mRNA.	101					mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			AAGGTCCCCTCTCTGCAGGTA	0.463000														25			14		0	0	1	0	0
VEZF1	7716	broad.mit.edu	37	17	56051876	56051876	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:56051876C>T	uc002ivf.1	-	5	1667	c.1524G>A	c.(1522-1524)atG>atA	p.M508I		NM_007146	NP_009077	Q14119	VEZF1_HUMAN	Homo sapiens vascular endothelial zinc finger 1 (VEZF1), mRNA.	508					cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						GCAAGAAAGGCATGCTCTCTA	0.408000														45			31		0	0	1	0	0
SUCNR1	56670	broad.mit.edu	37	3	151598783	151598783	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:151598783C>T	uc003ezf.2	+	2	557	c.452C>T	c.(451-453)aCc>aTc	p.T151I		NM_033050	NP_149039	Q9BXA5	SUCR1_HUMAN	Homo sapiens succinate receptor 1 (SUCNR1), mRNA.	151						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		Succinic acid(DB00139)	GTTTTAGTAACCTTAGAGTTA	0.378000														94			62		0	0	1	0	0
METTL3	56339	broad.mit.edu	37	14	21971507	21971507	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:21971507G>A	uc001wbc.3	-	2	624	c.532C>T	c.(532-534)Cgg>Tgg	p.R178W	METTL3_uc001wbb.3_Missense_Mutation_p.R23W|METTL3_uc010tlw.1_Intron|METTL3_uc010tlx.2_Missense_Mutation_p.R178W|METTL3_uc021rox.1_Missense_Mutation_p.R178W	NM_019852	NP_062826	Q86U44	MTA70_HUMAN	Homo sapiens methyltransferase like 3 (METTL3), mRNA.	178					gene expression	nuclear speck	RNA binding|mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(95;0.000628)		Epithelial(56;6.61e-06)	GBM - Glioblastoma multiforme(265;0.0146)		TCTGCACGCCGCTTCTGCCCT	0.552000														32			12		0	0	1	0	0
LINS	55180	broad.mit.edu	37	15	101109777	101109777	+	Missense_Mutation	SNP	C	A	A	rs150317593		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:101109777C>A	uc002bwg.3	-	6	2163	c.1940G>T	c.(1939-1941)aGt>aTt	p.S647I	LINS_uc002bwd.3_Missense_Mutation_p.S234I	NM_001040616	NP_001035706	Q8NG48	LINES_HUMAN	Homo sapiens lines homolog (Drosophila) (LINS), transcript variant 6, mRNA.	647										central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(4)	21						TGTCTGTTTACTGTTAGCTAA	0.478000														101			6		0.00116845	0.00123466	1	1	0
CASD1	64921	broad.mit.edu	37	7	94176487	94176487	+	Splice_Site	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:94176487G>T	uc003uni.4	+	13	1940	c.1713_splice	c.e13+1	p.Q571_splice	CASD1_uc003unj.4_Splice_Site_p.Q571_splice	NM_022900	NP_075051	Q96PB1	CASD1_HUMAN	Homo sapiens CAS1 domain containing 1 (CASD1), mRNA.	571						integral to membrane				NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	31	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			CATATTCTCAGGTTTGTACAA	0.279000														61			6		5.18039e-06	5.80246e-06	1	1	0
NSF	4905	broad.mit.edu	37	17	44806225	44806225	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:44806225C>T	uc002iku.3	+	16	1940	c.1833C>T	c.(1831-1833)taC>taT	p.Y611Y	NSF_uc010wke.2_Silent_p.Y517Y|NSF_uc010wkf.2_Silent_p.Y517Y|NSF_uc010wkg.2_Silent_p.Y606Y	NM_006178	NP_006169	P46459	NSF_HUMAN	Homo sapiens N-ethylmaleimide-sensitive factor (NSF), transcript variant 1, mRNA.	611					protein transport|synaptic transmission	cytosol	ATP binding|metal ion binding	p.Y611Y(2)		kidney(2)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	14		Melanoma(429;0.203)	BRCA - Breast invasive adenocarcinoma(9;0.0257)	BRCA - Breast invasive adenocarcinoma(366;0.241)		TTCCAGATTACGTCCCTATTG	0.318000														52			26		0	0	1	0	0
PPM1D	8493	broad.mit.edu	37	17	58701094	58701094	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:58701094G>A	uc002iyt.2	+	1	917	c.685G>A	c.(685-687)Gaa>Aaa	p.E229K	PPM1D_uc010ddm.2_Non-coding_Transcript	NM_003620	NP_003611	O15297	PPM1D_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1D (PPM1D), mRNA.	229	PP2C-like.				negative regulation of cell proliferation|protein dephosphorylation|response to radiation	nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein binding|protein serine/threonine phosphatase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	15	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)			AGAACGAATCGAAGGACTTGG	0.433000														21			11		0	0	1	0	0
CCDC76	54482	broad.mit.edu	37	1	100609634	100609634	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:100609634C>A	uc001dsv.3	+	8	771	c.752C>A	c.(751-753)cCt>cAt	p.P251H	CCDC76_uc010ouf.2_Non-coding_Transcript|CCDC76_uc009wea.3_Missense_Mutation_p.P251H	NM_019083	NP_061956	Q9NUP7	TRM13_HUMAN	Homo sapiens coiled-coil domain containing 76 (CCDC76), mRNA.	251					tRNA processing		metal ion binding|methyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)	21		all_epithelial(167;0.000542)|all_lung(203;0.0154)|Lung NSC(277;0.0155)		Epithelial(280;0.0814)|all cancers(265;0.133)|COAD - Colon adenocarcinoma(174;0.146)|Lung(183;0.194)		GACAAGATTCCTGTGCTAAGA	0.348000														53			17		3.57192e-18	4.57256e-18	1	1	0
PRKCDBP	112464	broad.mit.edu	37	11	6340468	6340468	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6340468C>T	uc001mcu.1	-	1	745	c.711G>A	c.(709-711)ccG>ccA	p.P237P		NM_145040	NP_659477	Q969G5	PRDBP_HUMAN	Homo sapiens protein kinase C, delta binding protein (PRKCDBP), mRNA.	237										large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CGGTGTCCTGCGGAGGCTCTG	0.692000														97			83		0	0	1	0	0
UBL5	59286	broad.mit.edu	37	19	9939539	9939539	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9939539C>A	uc002mmi.2	+	3	283	c.167C>A	c.(166-168)tCt>tAt	p.S56Y	UBL5_uc002mmj.1_Missense_Mutation_p.S56Y	NM_001048241	NP_001041706	Q9BZL1	UBL5_HUMAN	Homo sapiens ubiquitin-like 5 (UBL5), transcript variant 2, mRNA.	56	Ubiquitin-like.					cytoplasm				kidney(1)|lung(1)	2						GACCACGTGTCTCTGGGGGAC	0.438000														99			36		1.89013e-27	2.48381e-27	1	1	0
MRPL2	51069	broad.mit.edu	37	6	43023921	43023921	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:43023921C>T	uc003ots.1	-	3	541	c.418G>A	c.(418-420)Gct>Act	p.A140T	CUL7_uc003otq.3_5'Flank|CUL7_uc011dvb.2_5'Flank|KLC4_uc003otr.1_Intron|MRPL2_uc011dvc.2_Missense_Mutation_p.A140T	NM_015950	NP_057034	Q5T653	RM02_HUMAN	Homo sapiens mitochondrial ribosomal protein L2 (MRPL2), nuclear gene encoding mitochondrial protein, mRNA.	140					translation	mitochondrion|ribosome	structural constituent of ribosome			breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(2)	9		Ovarian(999;0.0014)	Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00708)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)	BRCA - Breast invasive adenocarcinoma(397;0.0026)		GCAACCAGAGCTATGTCTGCT	0.522000														41			21		0	0	1	0	0
SNRNP35	11066	broad.mit.edu	37	12	123950644	123950644	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:123950644G>A	uc021rfv.1	+	1	622	c.572G>A	c.(571-573)cGa>cAa	p.R191Q	SNRNP35_uc001ufb.1_Missense_Mutation_p.R186Q|SNRNP35_uc001ufc.1_Intron|SNRNP35_uc021rfw.1_Missense_Mutation_p.R186Q	NM_180699	NP_073208	Q16560	U1SBP_HUMAN	Homo sapiens small nuclear ribonucleoprotein 35kDa (U11/U12) (SNRNP35), transcript variant 3, mRNA.	186	Arg-rich.				mRNA processing	U12-type spliceosomal complex	RNA binding|nucleotide binding	p.R190R(1)		NS(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	8						AGGCGGGAGCGATCTCGATCC	0.542000														33			18		0	0	1	0	0
USP28	57646	broad.mit.edu	37	11	113673911	113673911	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:113673911A>G	uc001poh.3	-	22	2864	c.2831T>C	c.(2830-2832)gTg>gCg	p.V944A	USP28_uc001pog.3_Missense_Mutation_p.V620A|USP28_uc010rwy.2_Missense_Mutation_p.V787A|USP28_uc001poi.3_Missense_Mutation_p.V267A	NM_020886	NP_065937	Q96RU2	UBP28_HUMAN	Homo sapiens ubiquitin specific peptidase 28 (USP28), mRNA.	944					DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|cell proliferation|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		TAAAGCAATCACGGATTCTTT	0.463000														98			8		0	0	1	0	0
MAP7D2	256714	broad.mit.edu	37	X	20060732	20060732	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:20060732G>A	uc010nfo.2	-	7	1012	c.895C>T	c.(895-897)Cgg>Tgg	p.R299W	MAP7D2_uc004czq.2_Missense_Mutation_p.R143W|MAP7D2_uc011mji.2_Missense_Mutation_p.R206W|MAP7D2_uc004czr.2_Missense_Mutation_p.R258W|MAP7D2_uc011mjj.2_Missense_Mutation_p.R213W	NM_001168465	NP_001161937	Q96T17	MA7D2_HUMAN	Homo sapiens MAP7 domain containing 2 (MAP7D2), transcript variant 1, mRNA.	258										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						CGTTGCCCCCGCTTCACCTTC	0.493000														102			62		0	0	1	0	0
KIF1A	547	broad.mit.edu	37	2	241685311	241685311	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:241685311C>T	uc010fzk.3	-	30	3465	c.3218G>A	c.(3217-3219)gGc>gAc	p.G1073D	KIF1A_uc002vzy.3_Missense_Mutation_p.G972D|KIF1A_uc002vzz.2_Missense_Mutation_p.G1073D	NM_001244008	NP_001230937	Q12756	KIF1A_HUMAN	Homo sapiens kinesin family member 1A (KIF1A), transcript variant 1, mRNA.	972					anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		TAGGAGGAGGCCTTCTGGGGG	0.632000														9			12		0	0	1	0	0
ASPM	259266	broad.mit.edu	37	1	197071586	197071586	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:197071586G>A	uc001gtu.3	-	17	7052	c.6795C>T	c.(6793-6795)gcC>gcT	p.A2265A	ASPM_uc001gtv.3_Intron|ASPM_uc001gtw.4_Silent_p.A113A	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	Homo sapiens asp (abnormal spindle) homolog, microcephaly associated (Drosophila) (ASPM), transcript variant 1, mRNA.	2265	IQ 20.|IQ 21.				mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TGAGAGTTGCGGCTATATGCA	0.348000														112			48		0	0	1	0	0
PYGL	5836	broad.mit.edu	37	14	51387279	51387279	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:51387279C>T	uc001wyu.3	-	6	962	c.835G>A	c.(835-837)Gtc>Atc	p.V279I	PYGL_uc010tqq.2_Missense_Mutation_p.V245I|PYGL_uc010anz.1_Missense_Mutation_p.V82I	NM_002863	NP_002854	P06737	PYGL_HUMAN	Homo sapiens phosphorylase, glycogen, liver (PYGL), transcript variant 1, mRNA.	279					glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)	GGATAGAGGACCCGGGAGATG	0.443000														43			29		0	0	1	0	0
NMT2	9397	broad.mit.edu	37	10	15175059	15175059	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:15175059G>T	uc001inz.1	-	4	679	c.595C>A	c.(595-597)Ctg>Atg	p.L199M	NMT2_uc001ioa.1_Missense_Mutation_p.L186M|NMT2_uc010qbz.1_Missense_Mutation_p.L11M	NM_004808	NP_004799	O60551	NMT2_HUMAN	Homo sapiens N-myristoyltransferase 2 (NMT2), mRNA.	199					N-terminal protein myristoylation|protein lipoylation	Golgi apparatus|plasma membrane	glycylpeptide N-tetradecanoyltransferase activity			breast(3)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(3)	21						TACCACAACAGGAACTCGGGT	0.433000														63			5		1.23904e-05	1.3743e-05	1	1	0
CELA1	1990	broad.mit.edu	37	12	51736376	51736376	+	Silent	SNP	G	A	A	rs141068541	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:51736376G>A	uc001ryi.1	-	3	350	c.309C>T	c.(307-309)agC>agT	p.S103S		NM_001971	NP_001962	Q9UNI1	CELA1_HUMAN	Homo sapiens chymotrypsin-like elastase family, member 1 (CELA1), mRNA.	103	Peptidase S1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity	p.S103N(1)		NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	15						CCACGTTATCGCTGTTCCAGT	0.577000														52			41		0	0	1	0	0
CDH5	1003	broad.mit.edu	37	16	66436740	66436740	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:66436740C>T	uc002eom.4	+	11	2179	c.2023C>T	c.(2023-2025)Cgg>Tgg	p.R675W		NM_001795	NP_001786	P33151	CADH5_HUMAN	Homo sapiens cadherin 5, type 2 (vascular endothelium) (CDH5), mRNA.	675					adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)		caagcccccgcggcccgcgcT	0.726000														7			6		0	0	1	0	0
BTLA	151888	broad.mit.edu	37	3	112198487	112198487	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:112198487T>C	uc003dza.4	-	1	421	c.218A>G	c.(217-219)aAg>aGg	p.K73R	BTLA_uc003dzb.4_Missense_Mutation_p.K73R	NM_181780	NP_861445	Q7Z6A9	BTLA_HUMAN	Homo sapiens B and T lymphocyte associated (BTLA), transcript variant 1, mRNA.	73	Ig-like V-type.				T cell costimulation		receptor activity			breast(1)|central_nervous_system(1)|cervix(2)|large_intestine(1)|lung(5)|prostate(1)	11		Acute lymphoblastic leukemia(4;1.34e-07)|all_hematologic(4;0.000361)				TCCATTGAGCTTGCACCAAGT	0.388000														110			9		0	0	1	0	0
CDYL	9425	broad.mit.edu	37	6	4892311	4892311	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:4892311G>A	uc003mwi.3	+	3	682	c.551G>A	c.(550-552)cGg>cAg	p.R184Q	CDYL_uc003mwj.3_Missense_Mutation_p.R130Q|CDYL_uc003mwk.3_Intron|CDYL_uc011dhx.2_5'UTR|CDYL_uc011dhy.2_5'UTR	NM_001143971	NP_001137443	Q9Y232	CDYL1_HUMAN	Homo sapiens chromodomain protein, Y-like (CDYL), transcript variant 5, mRNA.	184					regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	histone acetyltransferase activity			breast(2)|kidney(2)|large_intestine(9)|lung(13)|skin(1)|stomach(2)|urinary_tract(1)	30	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)		OV - Ovarian serous cystadenocarcinoma(45;0.182)		CTCTCCAGCCGGAAGAACATG	0.537000														30			32		0	0	1	0	0
PHKA2	5256	broad.mit.edu	37	X	18938252	18938252	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:18938252G>A	uc004cyv.4	-	17	2291	c.1861C>T	c.(1861-1863)Cca>Tca	p.P621S	PHKA2_uc010nfg.1_Non-coding_Transcript	NM_000292	NP_000283	P46019	KPB2_HUMAN	Homo sapiens phosphorylase kinase, alpha 2 (liver) (PHKA2), mRNA.	621					glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					TCACAGTCTGGATCCAGAAAA	0.433000														92			36		0	0	1	0	0
MYL2	4633	broad.mit.edu	37	12	111352092	111352092	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:111352092G>A	uc001try.4	-	3	243	c.172C>T	c.(172-174)Cga>Tga	p.R58*	MYL2_uc001trx.4_Nonsense_Mutation_p.R39*	NM_000432	NP_000423	P10916	MLRV_HUMAN	Homo sapiens myosin, light chain 2, regulatory, cardiac, slow (MYL2), mRNA.	58	EF-hand 1.		R -> Q (in CMH10; dbSNP:rs28933099).		cardiac myofibril assembly|heart contraction|muscle filament sliding|negative regulation of cell growth|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	cytosol|myosin complex|sarcomere	actin monomer binding|calcium ion binding|myosin heavy chain binding|structural constituent of muscle			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)	12						ACGTTCACTCGCCCTAGGGTA	0.453000														28			8		0	0	1	0	0
MTOR	2475	broad.mit.edu	37	1	11182139	11182139	+	Missense_Mutation	SNP	A	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:11182139A>T	uc001asd.3	-	47	6828	c.6707T>A	c.(6706-6708)cTc>cAc	p.L2236H	MTOR_uc001asc.3_Missense_Mutation_p.L441H	NM_004958	NP_004949	P42345	MTOR_HUMAN	Homo sapiens mechanistic target of rapamycin (serine/threonine kinase) (MTOR), mRNA.	2236	PI3K/PI4K.				T cell costimulation|TOR signaling cascade|cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient	Golgi membrane|PML body|TORC1 complex|TORC2 complex|endoplasmic reticulum membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						CCAGCCAATGAGGCCCGAGTT	0.532000														20			23		0	0	1	0	0
C1orf162	128346	broad.mit.edu	37	1	112020051	112020051	+	Splice_Site	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:112020051G>A	uc001ebe.3	+	4	262	c.202_splice	c.e4+1	p.Y68_splice		NM_174896	NP_777556	Q8NEQ5	CA162_HUMAN	Homo sapiens chromosome 1 open reading frame 162 (C1orf162), mRNA.	68						integral to membrane				NS(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	5		all_cancers(81;0.00116)|all_epithelial(167;0.000761)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0236)|Colorectal(144;0.0286)|all cancers(265;0.0572)|Epithelial(280;0.0862)|COAD - Colon adenocarcinoma(174;0.112)|LUSC - Lung squamous cell carcinoma(189;0.134)		TACAGAAAATGTAAGTGGTCT	0.448000														35			25		0	0	1	0	0
TCTN2	79867	broad.mit.edu	37	12	124171499	124171499	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:124171499T>C	uc001ufp.3	+	5	809	c.681T>C	c.(679-681)ggT>ggC	p.G227G	TCTN2_uc009zya.3_Silent_p.G226G	NM_024809	NP_079085	Q96GX1	TECT2_HUMAN	Homo sapiens tectonic family member 2 (TCTN2), transcript variant 1, mRNA.	227					cilium assembly|smoothened signaling pathway	integral to membrane				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)		CGACACGTGGTGTCCCCGATT	0.542000														209			12		0	0	1	0	0
NT5C1B-RDH14	100526794	broad.mit.edu	37	2	18764135	18764135	+	Splice_Site	SNP	G	A	A	rs148193506	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:18764135G>A	uc010exr.3	-	6	1139	c.1027_splice	c.e6+1	p.G343_splice	NT5C1B-RDH14_uc002rcy.3_Splice_Site_p.G401_splice|NT5C1B-RDH14_uc010yju.2_Splice_Site_p.G341_splice|NT5C1B-RDH14_uc002rcz.3_Splice_Site_p.G401_splice|NT5C1B-RDH14_uc010yjw.2_Splice_Site_p.G384_splice|NT5C1B-RDH14_uc010yjv.2_Splice_Site_p.G418_splice|NT5C1B-RDH14_uc010exs.3_Splice_Site_p.G403_splice|NT5C1B-RDH14_uc002rda.3_Splice_Site_p.G341_splice	NM_001199103	NP_001186032	Q96P26	5NT1B_HUMAN	Homo sapiens NT5C1B-RDH14 readthrough (NT5C1B-RDH14), transcript variant 1, mRNA.	401					purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding										TTTACTTACCGTAGTGATTGA	0.408000														48			5		0	0	1	0	0
ALOX12B	242	broad.mit.edu	37	17	7983639	7983639	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7983639A>G	uc002gjy.1	-	5	929	c.668T>C	c.(667-669)gTc>gCc	p.V223A	BC046191_uc010cnq.2_Non-coding_Transcript	NM_001139	NP_001130	O75342	LX12B_HUMAN	Homo sapiens arachidonate 12-lipoxygenase, 12R type (ALOX12B), mRNA.	223	Lipoxygenase.				epidermis development|leukotriene biosynthetic process		arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						CAGGCCGCGGACTTTGAAAGC	0.592000										Multiple Myeloma(8;0.094)	OREG0024153	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		59			24		0	0	1	0	0
FANCD2	2177	broad.mit.edu	37	3	10105596	10105596	+	Splice_Site	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:10105596G>T	uc003buw.3	+	21	2025	c.1947_splice	c.e21+1	p.L649_splice	FANCD2_uc003bux.1_Splice_Site_p.L649_splice|FANCD2_uc003buy.1_Splice_Site_p.L649_splice|FANCD2_uc010hcw.1_Splice_Site	NM_033084	NP_149075	Q9BXW9	FACD2_HUMAN	Homo sapiens Fanconi anemia, complementation group D2 (FANCD2), transcript variant 1, mRNA.	649					DNA repair|response to gamma radiation	nucleoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		AAAAGCCCTGGTAAAGCCAAT	0.423000			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia					59			23		4.87955e-14	6.09581e-14	1	1	0
BCAR3	8412	broad.mit.edu	37	1	94048337	94048337	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:94048337G>T	uc001dpz.3	-	6	1482	c.1207C>A	c.(1207-1209)Ccc>Acc	p.P403T	BCAR3_uc001dqa.3_Missense_Mutation_p.P403T|BCAR3_uc001dqb.3_Missense_Mutation_p.P403T|BCAR3_uc001dpx.4_Missense_Mutation_p.P79T|BCAR3_uc001dpy.3_Missense_Mutation_p.P312T|BCAR3_uc009wdm.1_Missense_Mutation_p.P79T	NM_003567	NP_003558	O75815	BCAR3_HUMAN	Homo sapiens breast cancer anti-estrogen resistance 3 (BCAR3), mRNA.	403					response to drug|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		TTAGGCGGGGGCTTAGGGCAC	0.627000														54			18		6.33239e-15	7.95586e-15	1	1	0
ARF1	375	broad.mit.edu	37	1	228284846	228284846	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:228284846G>A	uc001hrs.3	+	1	174	c.31G>A	c.(31-33)Ggc>Agc	p.G11S	ARF1_uc001hrr.3_Missense_Mutation_p.G11S|ARF1_uc001hru.3_Missense_Mutation_p.G11S|ARF1_uc001hrv.3_Missense_Mutation_p.G11S|MIR3620_uc021pkd.1_5'Flank	NM_001658	NP_001649	P84077	ARF1_HUMAN	Homo sapiens ADP-ribosylation factor 1 (ARF1), transcript variant 4, mRNA.	11					COPI coating of Golgi vesicle|cellular copper ion homeostasis|post-Golgi vesicle-mediated transport|protein transport|regulation of defense response to virus by virus|retrograde vesicle-mediated transport, Golgi to ER|small GTPase mediated signal transduction|viral reproduction	Golgi membrane|cytosol|perinuclear region of cytoplasm|plasma membrane	GTP binding|GTPase activity|protein binding|receptor signaling protein activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)	10		Prostate(94;0.0405)				CCTCTTCAAGGGCCTTTTTGG	0.542000														65			33		0	0	1	0	0
LINGO2	158038	broad.mit.edu	37	9	27949356	27949356	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:27949356C>T	uc003zqv.1	-	6	1964	c.1314G>A	c.(1312-1314)ccG>ccA	p.P438P	LINGO2_uc010mjf.1_Silent_p.P438P|LINGO2_uc003zqu.1_Silent_p.P438P|LINGO2_uc022bfc.1_Silent_p.P438P	NM_152570	NP_689783	Q7L985	LIGO2_HUMAN	Homo sapiens leucine rich repeat and Ig domain containing 2 (LINGO2), mRNA.	438	Ig-like C2-type.					integral to membrane				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		TCACAGGCTGCGGGTCTCCAT	0.517000														47			4		0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38980372	38980372	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:38980372G>T	uc021yzh.1	+	90	13782	c.13673G>T	c.(13672-13674)aGg>aTg	p.R4558M	DNAH8_uc003ooe.2_Missense_Mutation_p.R4341M	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TTTGAAGGGAGGCCTAATGTG	0.423000														135			90		4.04825e-61	5.4007e-61	1	1	0
RSBN1	54665	broad.mit.edu	37	1	114308942	114308942	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:114308942G>A	uc001edq.3	-	6	2105	c.2069C>T	c.(2068-2070)tCg>tTg	p.S690L	RSBN1_uc001edr.3_Non-coding_Transcript	NM_018364	NP_060834	Q5VWQ0	RSBN1_HUMAN	Homo sapiens round spermatid basic protein 1 (RSBN1), mRNA.	690						nucleus				breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCACACCGCCGAAACTGTTTT	0.438000														78			45		0	0	1	0	0
CDKL4	344387	broad.mit.edu	37	2	39440589	39440589	+	Silent	SNP	G	A	A	rs140286102		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:39440589G>A	uc010fal.2	-	2	315	c.315C>T	c.(313-315)agC>agT	p.S105S	CDKL4_uc002rrm.3_Silent_p.S105S	NM_001009565	NP_001009565	Q5MAI5	CDKL4_HUMAN	Homo sapiens cyclin-dependent kinase-like 4 (CDKL4), mRNA.	105	Protein kinase.					cytoplasm	ATP binding|cyclin-dependent protein kinase activity			breast(1)|large_intestine(2)|liver(1)|lung(7)|ovary(1)	12		all_hematologic(82;0.248)				GCCATAATACGCTTTTGATCA	0.343000														43			26		0	0	1	0	0
CYB561D2	11068	broad.mit.edu	37	3	50391089	50391089	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:50391089G>T	uc003dal.3	+	3	793	c.583G>T	c.(583-585)Gct>Tct	p.A195S	NPRL2_uc003daj.1_5'Flank|CYB561D2_uc003dam.3_Missense_Mutation_p.A195S	NM_007022	NP_008953	O14569	C56D2_HUMAN	Homo sapiens cytochrome b-561 domain containing 2 (CYB561D2), mRNA.	195	Cytochrome b561.				electron transport chain|transport	integral to membrane	metal ion binding			endometrium(1)|lung(1)|urinary_tract(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		CTGGTACCTGGCTGTATTATG	0.562000														81			43		1.30475e-32	1.72498e-32	1	1	0
HTR3C	170572	broad.mit.edu	37	3	183774017	183774017	+	Missense_Mutation	SNP	A	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:183774017A>T	uc003fmk.3	+	3	366	c.332A>T	c.(331-333)aAt>aTt	p.N111I		NM_130770	NP_570126	Q8WXA8	5HT3C_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3, family member C (HTR3C), mRNA.	111						integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			GTTGGCATCAATAAACTCACA	0.502000														84			8		0	0	1	0	0
HPX	3263	broad.mit.edu	37	11	6458289	6458289	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6458289G>A	uc001mdg.2	-	6	883	c.822C>T	c.(820-822)acC>acT	p.T274T	HPX_uc009yfc.2_Non-coding_Transcript	NM_000613	NP_000604	P02790	HEMO_HUMAN	Homo sapiens hemopexin (HPX), mRNA.	274	Hemopexin-like 4.				cellular iron ion homeostasis|interspecies interaction between organisms	extracellular space	heme transporter activity|metal ion binding|protein binding			endometrium(1)|large_intestine(2)|lung(11)|prostate(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19)		TGAAGGCATAGGTGGCACCAT	0.517000														57			24		0	0	1	0	0
CELSR3	1951	broad.mit.edu	37	3	48685340	48685340	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:48685340C>T	uc003cuf.1	-	21	7273	c.7273G>A	c.(7273-7275)Gat>Aat	p.D2425N	CELSR3_uc010hkg.3_Missense_Mutation_p.D338N|CELSR3_uc003cul.3_Missense_Mutation_p.D2355N	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA.	2355					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TCCCAGGCATCCTGGCCTCGA	0.647000														87			50		0	0	1	0	0
ZNF497	162968	broad.mit.edu	37	19	58868478	58868478	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58868478G>A	uc002qsh.2	-	2	807	c.524C>T	c.(523-525)tCg>tTg	p.S175L	A1BG_uc002qsf.2_Intron|ZNF497_uc002qsi.2_Missense_Mutation_p.S175L|ZNF497_uc021vcw.1_Missense_Mutation_p.S175L|BC023201_uc002qsj.1_5'UTR|BC023201_uc002qsk.1_5'Flank	NM_198458	NP_940860	Q6ZNH5	ZN497_HUMAN	Homo sapiens zinc finger protein 497 (ZNF497), mRNA.	175					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|lung(3)|skin(2)	7		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0278)		GATGAGCTGCGAGTGCGCGCG	0.677000														8			8		0	0	1	0	0
GPR101	83550	broad.mit.edu	37	X	136112328	136112328	+	Silent	SNP	G	A	A	rs150021829		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:136112328G>A	uc011mwh.2	-	0	1506	c.1506C>T	c.(1504-1506)taC>taT	p.Y502Y		NM_054021	NP_473362	Q96P66	GP101_HUMAN	Homo sapiens G protein-coupled receptor 101 (GPR101), mRNA.	502						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42	Acute lymphoblastic leukemia(192;0.000127)					TAGCAGAATCGTAGGAAGGGA	0.463000														42			27		0	0	1	0	0
ZNF649	65251	broad.mit.edu	37	19	52394292	52394292	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:52394292C>A	uc002pxy.3	-	4	1423	c.1097G>T	c.(1096-1098)aGa>aTa	p.R366I	ZNF577_uc010ydf.1_5'Flank	NM_023074	NP_075562	Q9BS31	ZN649_HUMAN	Homo sapiens zinc finger protein 649 (ZNF649), mRNA.	366					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R366*(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)		TGTATGATATCTCTGATGTGC	0.453000														36			23		2.70639e-06	3.05106e-06	1	1	0
YTHDF1	54915	broad.mit.edu	37	20	61828083	61828083	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:61828083G>A	uc002yeh.3	-	4	1951	c.1657C>T	c.(1657-1659)Cgg>Tgg	p.R553W	YTHDF1_uc011aaq.2_Missense_Mutation_p.R503W	NM_017798	NP_060268	Q9BYJ9	YTHD1_HUMAN	Homo sapiens YTH domain family, member 1 (YTHDF1), mRNA.	553										NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						CGACTCTGCCGTTCCTGTAAA	0.448000														48			47		0	0	1	0	0
RUNDC3B	154661	broad.mit.edu	37	7	87339908	87339908	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:87339908C>T	uc003ujb.3	+	4	857	c.446C>T	c.(445-447)gCa>gTa	p.A149V	ABCB1_uc003uiz.2_Intron|ABCB1_uc003uja.2_Intron|ABCB1_uc010lei.2_Intron|RUNDC3B_uc011khd.1_Missense_Mutation_p.A132V|RUNDC3B_uc011khe.2_Missense_Mutation_p.A132V|RUNDC3B_uc003ujc.3_Missense_Mutation_p.A132V|RUNDC3B_uc003ujd.3_Missense_Mutation_p.A54V	NM_138290	NP_612147	Q96NL0	RUN3B_HUMAN	Homo sapiens RUN domain containing 3B (RUNDC3B), transcript variant 1, mRNA.	149	RUN.									breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(2)	26	Esophageal squamous(14;0.00164)					ATCAGAGTAGCACTCATGGAA	0.289000														37			7		0	0	1	0	0
CLCA1	1179	broad.mit.edu	37	1	86965612	86965612	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:86965612C>T	uc001dlt.3	+	13	2889	c.2629C>T	c.(2629-2631)Cct>Tct	p.P877S		NM_001285	NP_001276	A8K7I4	CLCA1_HUMAN	Homo sapiens chloride channel accessory 1 (CLCA1), mRNA.	877					calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity			NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		GACACCTAGTCCTGATGAAAC	0.408000														93			97		0	0	1	0	0
PPIL4	85313	broad.mit.edu	37	6	149826712	149826712	+	Missense_Mutation	SNP	A	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:149826712A>T	uc003qmo.2	-	12	1453	c.1356T>A	c.(1354-1356)caT>caA	p.H452Q		NM_139126	NP_624311	Q8WUA2	PPIL4_HUMAN	Homo sapiens peptidylprolyl isomerase (cyclophilin)-like 4 (PPIL4), mRNA.	452					protein folding	nucleus	RNA binding|nucleotide binding|peptidyl-prolyl cis-trans isomerase activity			endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1)	13		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.11e-11)|GBM - Glioblastoma multiforme(68;0.0885)		TATTACTATAATGGCCATCCC	0.393000														66			33		0	0	1	0	0
ELL	8178	broad.mit.edu	37	19	18572498	18572498	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:18572498G>T	uc002njh.3	-	4	706	c.634C>A	c.(634-636)Ctg>Atg	p.L212M	ELL_uc010ebq.3_Missense_Mutation_p.L155M|ELL_uc002njg.3_Missense_Mutation_p.L79M	NM_006532	NP_006523	P55199	ELL_HUMAN	Homo sapiens elongation factor RNA polymerase II (ELL), mRNA.	212					positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	Cajal body|nuclear speck|transcription elongation factor complex	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(5)|prostate(1)	19				GBM - Glioblastoma multiforme(1328;7.81e-07)		AGGAGGTGCAGCACTCGGTCA	0.667000			T	MLL	AL						OREG0025366	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		26			19		7.45023e-12	9.14443e-12	1	1	0
FAM75A6	389730	broad.mit.edu	37	9	43629308	43629308	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:43629308G>A	uc011lrb.2	-	1	231	c.202C>T	c.(202-204)Cgg>Tgg	p.R68W		NM_001145196	NP_001138668	Q5VVP1	F75A6_HUMAN	Homo sapiens family with sequence similarity 75, member A6 (FAM75A6), mRNA.	68	Poly-Arg.					integral to membrane		p.R68R(1)|p.R68L(1)		breast(2)|endometrium(3)|kidney(4)|lung(36)|prostate(4)|skin(2)|soft_tissue(1)|stomach(1)|urinary_tract(1)	54						CTCCGCCTCCGCCCTACTGGA	0.542000														120			39		0	0	1	0	0
CD180	4064	broad.mit.edu	37	5	66480139	66480139	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:66480139G>T	uc003juy.2	-	2	680	c.532C>A	c.(532-534)Ctg>Atg	p.L178M		NM_005582	NP_005573	Q99467	CD180_HUMAN	Homo sapiens CD180 molecule (CD180), mRNA.	178					inflammatory response|innate immune response	integral to membrane|plasma membrane	receptor activity			cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2)	34		Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234)		Lung(70;0.0046)		TGAAAATCCAGTACTTTCAGA	0.418000														75			37		5.71845e-15	7.1882e-15	1	1	0
NDUFS1	4719	broad.mit.edu	37	2	207017192	207017192	+	Missense_Mutation	SNP	A	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:207017192A>T	uc010ziq.2	-	2	207	c.146T>A	c.(145-147)tTt>tAt	p.F49Y	NDUFS1_uc002vbe.3_Missense_Mutation_p.F35Y|NDUFS1_uc010zir.2_Missense_Mutation_p.F35Y|NDUFS1_uc010zis.2_Intron|NDUFS1_uc010zit.2_Intron|NDUFS1_uc010ziu.2_Intron	NM_001199984	NP_001186913	P28331	NDUS1_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase) (NDUFS1), transcript variant 5, mRNA.	35	2Fe-2S ferredoxin-type.				ATP metabolic process|apoptosis|mitochondrial electron transport, NADH to ubiquinone|reactive oxygen species metabolic process|regulation of mitochondrial membrane potential|transport	mitochondrial intermembrane space|mitochondrial respiratory chain complex I	2 iron, 2 sulfur cluster binding|4 iron, 4 sulfur cluster binding|NADH dehydrogenase (ubiquinone) activity|electron carrier activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(15)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					NADH(DB00157)	ACCATCAACAAATACTTCAAT	0.383000														56			5		0	0	1	0	0
COL16A1	1307	broad.mit.edu	37	1	32127979	32127979	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:32127979C>T	uc001btk.1	-	57	4002	c.3637G>A	c.(3637-3639)Ggt>Agt	p.G1213S	COL16A1_uc001btj.1_Missense_Mutation_p.G1011S	NM_001856	NP_001847	Q07092	COGA1_HUMAN	Homo sapiens collagen, type XVI, alpha 1 (COL16A1), mRNA.	1213	Triple-helical region 2 (COL2) with 2 imperfections.				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		CCATCCAGACCGGCGGGGCCC	0.622000														10			3		0	0	1	0	0
IRAK3	11213	broad.mit.edu	37	12	66641635	66641635	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:66641635C>T	uc001sth.3	+	11	1577	c.1475C>T	c.(1474-1476)tCt>tTt	p.S492F	IRAK3_uc010ssy.2_Missense_Mutation_p.S431F	NM_007199	NP_009130	Q9Y616	IRAK3_HUMAN	Homo sapiens interleukin-1 receptor-associated kinase 3 (IRAK3), transcript variant 1, mRNA.	492					MyD88-dependent toll-like receptor signaling pathway|interleukin-1-mediated signaling pathway|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of NF-kappaB transcription factor activity|positive regulation of macrophage tolerance induction|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(28;0.0203)		TTACTACCTTCTGATGAAGGC	0.428000														84			7		0	0	1	0	0
ZNF3	7551	broad.mit.edu	37	7	99669634	99669634	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:99669634A>G	uc003uss.3	-	2	812	c.494T>C	c.(493-495)gTg>gCg	p.V165A	ZNF3_uc003usp.3_Intron|ZNF3_uc003usq.3_Missense_Mutation_p.V158A|ZNF3_uc010lgj.3_Missense_Mutation_p.V122A|ZNF3_uc003usr.3_Missense_Mutation_p.V158A|ZNF3_uc003ust.4_Missense_Mutation_p.V158A			P17036	ZNF3_HUMAN	Homo sapiens zinc finger protein 3 (ZNF3), transcript variant 2, mRNA.	158					cell differentiation|leukocyte activation|multicellular organismal development	nucleus	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	25	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)	Ovarian(593;2.06e-05)|Myeloproliferative disorder(862;0.0122)|Breast(660;0.029)	STAD - Stomach adenocarcinoma(171;0.129)			CTCAACTGTCACTTGACCAAA	0.453000														252			19		0	0	1	0	0
NBEAL2	23218	broad.mit.edu	37	3	47043273	47043273	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:47043273G>A	uc003cqp.3	+	29	4918	c.4739G>A	c.(4738-4740)gGc>gAc	p.G1580D	NBEAL2_uc010hjm.2_Missense_Mutation_p.G957D|NBEAL2_uc010hjn.2_5'Flank	NM_015175	NP_055990	Q6ZNJ1	NBEL2_HUMAN	Homo sapiens neurobeachin-like 2 (NBEAL2), mRNA.	1580							binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		GCGCAGATTGGCCTACGGCTT	0.607000														51			45		0	0	1	0	0
THAP5	168451	broad.mit.edu	37	7	108205181	108205181	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:108205181A>G	uc003vfm.3	-	2	796	c.642T>C	c.(640-642)agT>agC	p.S214S	THAP5_uc003vfl.3_Silent_p.S172S	NM_001130475	NP_872335	Q7Z6K1	THAP5_HUMAN	Homo sapiens THAP domain containing 5 (THAP5), transcript variant 1, mRNA.	214					cell cycle|negative regulation of cell cycle	nucleus	DNA binding|metal ion binding|protease binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	8						ATTGATGAATACTTTCTGAAT	0.328000														35			43		0	0	1	0	0
PHLDB2	90102	broad.mit.edu	37	3	111632216	111632216	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:111632216G>A	uc010hqa.3	+	2	1797	c.1386G>A	c.(1384-1386)aaG>aaA	p.K462K	PHLDB2_uc003dyc.3_Silent_p.K489K|PHLDB2_uc003dyd.3_Silent_p.K462K|PHLDB2_uc003dyg.3_Silent_p.K462K|PHLDB2_uc003dyh.3_Silent_p.K462K|PHLDB2_uc003dyi.3_Silent_p.K48K|PHLDB2_uc003dyf.4_Silent_p.K462K	NM_001134438	NP_001127911	Q86SQ0	PHLB2_HUMAN	Homo sapiens pleckstrin homology-like domain, family B, member 2 (PHLDB2), transcript variant 1, mRNA.	462						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						AATACACAAAGCCTGACAGTC	0.512000														53			69		0	0	1	0	0
AGAP11	119385	broad.mit.edu	37	10	88769219	88769219	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:88769219G>A	uc001kee.2	+	11	2414	c.1210G>A	c.(1210-1212)Gcc>Acc	p.A404T	AGAP11_uc001kef.3_Intron	NM_133447	NP_597704	Q8TF27	AGA11_HUMAN	Homo sapiens ankyrin repeat and GTPase domain Arf GTPase activating protein 11 (AGAP11), mRNA.	404	Arf-GAP.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding										CAATGACCTAGCCAACAGCAT	0.547000														95			62		0	0	1	0	0
DMXL1	1657	broad.mit.edu	37	5	118500956	118500956	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:118500956G>A	uc010jcl.1	+	20	5132	c.4951G>A	c.(4951-4953)Gtg>Atg	p.V1651M	DMXL1_uc003ksd.2_Missense_Mutation_p.V1651M|DMXL1_uc021ycw.1_Missense_Mutation_p.V1478M	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN	Homo sapiens Dmx-like 1 (DMXL1), mRNA.	1651										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		AAAGAAAGCTGTGATTTGGGG	0.299000														27			11		0	0	1	0	0
SMARCC1	6599	broad.mit.edu	37	3	47823105	47823105	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:47823105C>T	uc003crq.2	-	0	301	c.183G>A	c.(181-183)aaG>aaA	p.K61K	SMARCC1_uc011bbd.1_Intron	NM_003074	NP_003065	Q92922	SMRC1_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1 (SMARCC1), mRNA.	61					chromatin remodeling|nervous system development|transcription, DNA-dependent	SWI/SNF complex|WINAC complex|nBAF complex|npBAF complex|nucleoplasm	DNA binding|protein N-terminus binding|transcription coactivator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		TCTTGTAGTGCTTGCCCAGCC	0.711000														9			4		0	0	1	0	0
EEF1A1	1915	broad.mit.edu	37	6	74229613	74229613	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:74229613G>T	uc003phi.3	-	0	1129	c.137C>A	c.(136-138)gCt>gAt	p.A46D	EEF1A1_uc003phj.3_Missense_Mutation_p.A46D|EEF1A1_uc021zbs.1_Non-coding_Transcript|EEF1A1_uc003phl.3_Missense_Mutation_p.A46D|EEF1A1_uc003phm.1_Non-coding_Transcript|EEF1A1_uc021zbt.1_5'Flank|EEF1A1_uc021zbu.1_5'Flank	NM_001402	NP_001393	P68104	EF1A1_HUMAN	Homo sapiens eukaryotic translation elongation factor 1 alpha 1 (EEF1A1), mRNA.	46						cytosol|eukaryotic translation elongation factor 1 complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						TACCTCAGCAGCCTCCTTCTC	0.418000														62			35		6.04917e-29	7.96686e-29	1	1	0
CENPJ	55835	broad.mit.edu	37	13	25457323	25457323	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:25457323C>T	uc001upt.4	-	16	4262	c.4009G>A	c.(4009-4011)Gag>Aag	p.E1337K	CENPJ_uc010tdf.2_Non-coding_Transcript|CENPJ_uc010aaf.3_Non-coding_Transcript	NM_018451	NP_060921	Q9HC77	CENPJ_HUMAN	Homo sapiens centromere protein J (CENPJ), mRNA.	1337					G2/M transition of mitotic cell cycle|cell division|centriole replication|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		CGTCACAGCTCCGTGTCCATT	0.378000														67			36		0	0	1	0	0
SYT15	83849	broad.mit.edu	37	10	46961979	46961979	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:46961979C>T	uc001jea.3	-	7	1410	c.1257G>A	c.(1255-1257)acG>acA	p.T419T	SYT15_uc001jdz.2_Intron|SYT15_uc001jeb.3_Silent_p.T297T|SYT15_uc010qfp.1_Non-coding_Transcript	NM_031912	NP_114118	Q9BQS2	SYT15_HUMAN	Homo sapiens synaptotagmin XV (SYT15), transcript variant a, mRNA.	419						integral to membrane|plasma membrane				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						GTCAGGGCTCCGTGGTGCGGC	0.637000														130			7		0	0	1	0	0
PCDHB2	56133	broad.mit.edu	37	5	140476357	140476357	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140476357C>T	uc003lil.3	+	0	2121	c.1983C>T	c.(1981-1983)caC>caT	p.H661H	PCDHB2_uc003lim.1_Silent_p.H322H	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	Homo sapiens protocadherin beta 2 (PCDHB2), mRNA.	661	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCACGCTGCACGTGCTCCTGG	0.711000														75			7		0	0	1	0	0
KIAA1211	57482	broad.mit.edu	37	4	57182683	57182683	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:57182683G>T	uc003hbk.2	+	7	3406	c.3015G>T	c.(3013-3015)aaG>aaT	p.K1005N	KIAA1211_uc010iha.2_Missense_Mutation_p.K998N|KIAA1211_uc011bzz.1_Missense_Mutation_p.K915N|KIAA1211_uc003hbm.1_Missense_Mutation_p.K891N	NM_020722	NP_065773	Q6ZU35	K1211_HUMAN	Homo sapiens KIAA1211 (KIAA1211), mRNA.	1005	Pro-rich.									endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					AGCCGTCCAAGGAGGACCAGG	0.652000														16			3		6.4e-05	6.99953e-05	1	1	0
NDUFS8	4728	broad.mit.edu	37	11	67803831	67803831	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:67803831G>A	uc001onc.3	+	5	601	c.484G>A	c.(484-486)Gtg>Atg	p.V162M	NDUFS8_uc009ysb.2_Non-coding_Transcript|TCIRG1_uc001ond.2_5'Flank|TCIRG1_uc001one.3_5'Flank	NM_002496	NP_002487	O00217	NDUS8_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa (NADH-coenzyme Q reductase) (NDUFS8), nuclear gene encoding mitochondrial protein, mRNA.	162	4Fe-4S ferredoxin-type 2.				mitochondrial electron transport, NADH to ubiquinone|mitochondrial respiratory chain complex I assembly|response to oxidative stress|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|NADH dehydrogenase (ubiquinone) activity|electron carrier activity|metal ion binding			endometrium(1)|kidney(1)|lung(5)|skin(1)	8					NADH(DB00157)	GGCCTGTCCCGTGGATGCCAT	0.667000														20			9		0	0	1	0	0
HDGFL1	154150	broad.mit.edu	37	6	22569978	22569978	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:22569978G>A	uc003nds.3	+	0	301	c.174G>A	c.(172-174)ccG>ccA	p.P58P		NM_138574	NP_612641	Q5TGJ6	HDGL1_HUMAN	Homo sapiens hepatoma derived growth factor-like 1 (HDGFL1), mRNA.	58	PWWP.									kidney(1)|large_intestine(3)|lung(7)	11	Ovarian(93;0.163)					GCCTGTTCCCGTACAAGGAGT	0.622000														8			12		0	0	1	0	0
NAA25	80018	broad.mit.edu	37	12	112481451	112481451	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:112481451C>T	uc001ttm.3	-	17	2286	c.2228G>A	c.(2227-2229)cGa>cAa	p.R743Q	NAA25_uc001ttn.4_Non-coding_Transcript|NAA25_uc009zvz.2_Missense_Mutation_p.R715Q|NAA25_uc009zwa.2_Missense_Mutation_p.R743Q	NM_024953	NP_079229	Q14CX7	NAA25_HUMAN	Homo sapiens N(alpha)-acetyltransferase 25, NatB auxiliary subunit (NAA25), mRNA.	743						cytoplasm	protein binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						CTCAATAAATCGCTTTCCTGT	0.413000														52			26		0	0	1	0	0
MED13	9969	broad.mit.edu	37	17	60108947	60108947	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:60108947G>A	uc002izo.3	-	5	944	c.867C>T	c.(865-867)gaC>gaT	p.D289D	MED13_uc002izp.3_5'Flank	NM_005121	NP_005112	Q9UHV7	MED13_HUMAN	Homo sapiens mediator complex subunit 13 (MED13), mRNA.	289					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						GAGTAGGAATGTCTGACTGAG	0.483000														16			10		0	0	1	0	0
PER2	8864	broad.mit.edu	37	2	239186389	239186389	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:239186389C>A	uc002vyc.3	-	1	426	c.189G>T	c.(187-189)aaG>aaT	p.K63N	PER2_uc010znv.1_Missense_Mutation_p.K63N|PER2_uc010znw.1_Missense_Mutation_p.K63N|PER2_uc010fyx.1_Missense_Mutation_p.K63N	NM_022817	NP_073728	O15055	PER2_HUMAN	Homo sapiens period homolog 2 (Drosophila) (PER2), mRNA.	63					circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		TCCCCAGCTCCTTCCCACTGT	0.597000														41			6		0.0293803	0.0299714	1	1	0
KREMEN1	83999	broad.mit.edu	37	22	29533483	29533483	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:29533483A>G	uc011akm.1	+	5	838	c.785A>G	c.(784-786)gAc>gGc	p.D262G	KREMEN1_uc003ael.3_Missense_Mutation_p.D262G|KREMEN1_uc011akn.2_Missense_Mutation_p.D145G	NM_032045	NP_114434	Q96MU8	KREM1_HUMAN	Homo sapiens kringle containing transmembrane protein 1 (KREMEN1), transcript variant 2, mRNA.	260	CUB.				Wnt receptor signaling pathway|cell communication|regulation of canonical Wnt receptor signaling pathway	integral to membrane|membrane fraction	protein binding			breast(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	20						CCCCTATTTGACATCAGGGAC	0.632000														69			7		0	0	1	0	0
HERC1	8925	broad.mit.edu	37	15	63904729	63904729	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:63904729G>T	uc002amp.3	-	76	14269	c.14121C>A	c.(14119-14121)tcC>tcA	p.S4707S	HERC1_uc002amo.3_5'Flank	NM_003922	NP_003913	Q15751	HERC1_HUMAN	Homo sapiens hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1 (HERC1), mRNA.	4707	HECT.				protein modification process|transport	Golgi apparatus|cytosol|membrane	ARF guanyl-nucleotide exchange factor activity|acid-amino acid ligase activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						GAACAATCCAGGACATCCCTT	0.577000														50			8		0.00621372	0.00645399	1	1	0
DSC3	1825	broad.mit.edu	37	18	28588282	28588282	+	Silent	SNP	G	A	A	rs138254140		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:28588282G>A	uc002kwj.4	-	9	1628	c.1473C>T	c.(1471-1473)aaC>aaT	p.N491N	DSC3_uc002kwi.4_Silent_p.N491N	NM_001941	NP_001932	Q14574	DSC3_HUMAN	Homo sapiens desmocollin 3 (DSC3), transcript variant Dsc3a, mRNA.	491	Cadherin 4.				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding	p.N491N(3)		endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			CCTTATAGCCGTTGATCTTTG	0.388000														30			25		0	0	1	0	0
DMXL1	1657	broad.mit.edu	37	5	118500881	118500881	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:118500881G>T	uc010jcl.1	+	20	5057	c.4876G>T	c.(4876-4878)Gct>Tct	p.A1626S	DMXL1_uc003ksd.2_Missense_Mutation_p.A1626S|DMXL1_uc021ycw.1_Missense_Mutation_p.A1453S	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN	Homo sapiens Dmx-like 1 (DMXL1), mRNA.	1626										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		ATTATAGGTAGCTAAAGCAGC	0.313000														28			12		7.03913e-09	8.30711e-09	1	1	0
PTAR1	375743	broad.mit.edu	37	9	72338485	72338485	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:72338485C>A	uc004ahj.4	-	5	726	c.704G>T	c.(703-705)aGt>aTt	p.S235I	PTAR1_uc004ahi.3_Missense_Mutation_p.S156I	NM_001099666	NP_001093136	Q7Z6K3	PTAR1_HUMAN	Homo sapiens protein prenyltransferase alpha subunit repeat containing 1 (PTAR1), mRNA.	235					protein prenylation		protein prenyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)	5						GTGAAATCCACTGTGGTCTGA	0.398000														65			21		1.50039e-11	1.83529e-11	1	1	0
PFAS	5198	broad.mit.edu	37	17	8158983	8158983	+	Missense_Mutation	SNP	C	T	T	rs139148307		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:8158983C>T	uc002gkr.3	+	4	689	c.548C>T	c.(547-549)gCg>gTg	p.A183V	PFAS_uc010vuv.2_Intron	NM_012393	NP_036525	O15067	PUR4_HUMAN	Homo sapiens phosphoribosylformylglycinamidine synthase (PFAS), mRNA.	183					'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	GGCCGGCTTGCGCTGGAGAAG	0.592000														11			12		0	0	1	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18795491	18795491	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:18795491C>T	uc003zne.4	+	19	3926	c.3774C>T	c.(3772-3774)taC>taT	p.Y1258Y		NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN	Homo sapiens ADAMTS-like 1 (ADAMTSL1), transcript variant 4, mRNA.	1258	Ig-like C2-type 2.					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)		CCTTGGGATACGACTCTGTCT	0.443000														20			10		0	0	1	0	0
ICAM5	7087	broad.mit.edu	37	19	10405101	10405101	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10405101C>T	uc002mnu.4	+	8	2080	c.2015C>T	c.(2014-2016)aCc>aTc	p.T672I	ICAM5_uc002mnv.4_Missense_Mutation_p.T547I	NM_003259	NP_003250	Q9UMF0	ICAM5_HUMAN	Homo sapiens intercellular adhesion molecule 5, telencephalin (ICAM5), mRNA.	672	Ig-like C2-type 8.				cell-cell adhesion	integral to plasma membrane				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			GATGAATCTACCTGCCCAAGT	0.692000														28			18		0	0	1	0	0
TRAPPC9	83696	broad.mit.edu	37	8	141381168	141381168	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:141381168C>T	uc003yvh.2	-	7	1555	c.1540G>A	c.(1540-1542)Gtg>Atg	p.V514M	TRAPPC9_uc003yvj.2_Missense_Mutation_p.V416M|TRAPPC9_uc003yvi.1_Missense_Mutation_p.V407M	NM_031466	NP_001153844	Q96Q05	TPPC9_HUMAN	Homo sapiens trafficking protein particle complex 9 (TRAPPC9), transcript variant 1, mRNA.	416					cell differentiation	Golgi apparatus|endoplasmic reticulum				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						CTTGGGGCCACGCACTGCATG	0.587000														48			4		0	0	1	0	0
CHRNA1	1134	broad.mit.edu	37	2	175618430	175618430	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:175618430G>A	uc002ujd.2	-	6	732	c.654C>T	c.(652-654)agC>agT	p.S218S	BC046497_uc002uiw.3_Intron|CHRNA1_uc002uje.2_Silent_p.S193S|CHRNA1_uc002ujf.4_Silent_p.S193S	NM_001039523	NP_001034612	P02708	ACHA_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 1 (muscle) (CHRNA1), transcript variant 1, mRNA.	218					muscle cell homeostasis|neuromuscular junction development|neuromuscular process|neuromuscular synaptic transmission|neuron homeostasis|regulation of action potential in neuron|skeletal muscle contraction|skeletal muscle tissue growth	cell junction|cell surface|neuromuscular junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	p.E217K(1)		breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4)	37						CCCACTCCCCGCTCTCCATGA	0.582000														17			15		0	0	1	0	0
TMEM131	23505	broad.mit.edu	37	2	98383045	98383045	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:98383045G>T	uc002syh.4	-	33	4698	c.4469C>A	c.(4468-4470)aCt>aAt	p.T1490N		NM_015348	NP_056163	Q92545	TM131_HUMAN	Homo sapiens transmembrane protein 131 (TMEM131), mRNA.	1490						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						CAAAGGGGGAGTATATGGTAG	0.383000														123			11		4.36969e-10	5.24943e-10	1	1	0
MSL2	55167	broad.mit.edu	37	3	135871112	135871112	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:135871112C>A	uc003eqx.1	-	1	1344	c.611G>T	c.(610-612)aGa>aTa	p.R204I	MSL2_uc011bmb.1_Missense_Mutation_p.R130I|MSL2_uc021xel.1_Missense_Mutation_p.R130I	NM_018133	NP_001138889	Q9HCI7	MSL2_HUMAN	Homo sapiens male-specific lethal 2 homolog (Drosophila) (MSL2), transcript variant 1, mRNA.	204					histone H4-K16 acetylation	MSL complex	zinc ion binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	18						TATACCAAATCTATCTATTGA	0.388000														29			20		1.87028e-06	2.11959e-06	1	1	0
PLXDC1	57125	broad.mit.edu	37	17	37264440	37264440	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:37264440C>T	uc002hrg.2	-	4	740	c.528G>A	c.(526-528)gcG>gcA	p.A176A	LOC100131347_uc002hrf.1_3'UTR|PLXDC1_uc002hrh.2_Non-coding_Transcript|PLXDC1_uc002hri.2_Non-coding_Transcript|PLXDC1_uc002hrj.1_Non-coding_Transcript|PLXDC1_uc002hrk.1_Non-coding_Transcript	NM_020405	NP_065138	Q8IUK5	PXDC1_HUMAN	Homo sapiens plexin domain containing 1 (PLXDC1), mRNA.	176					angiogenesis	cytoplasm|extracellular region|integral to membrane|tight junction				kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						CCATCAGGGGCGCCACATACT	0.527000														76			43		0	0	1	0	0
MT1B	4490	broad.mit.edu	37	16	56686499	56686499	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:56686499C>T	uc002ejs.3	+	1	100	c.45C>T	c.(43-45)tgC>tgT	p.C15C		NM_005947	NP_005938	P07438	MT1B_HUMAN	Homo sapiens metallothionein 1B (MT1B), mRNA.	15	Beta.					cytoplasm	cadmium ion binding|copper ion binding|zinc ion binding	p.A14S(1)		endometrium(1)|large_intestine(1)|lung(1)|ovary(1)	4						CCTGTGCCTGCGCCGGCTCCT	0.552000														53			32		0	0	1	0	0
STAP2	55620	broad.mit.edu	37	19	4332028	4332028	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:4332028C>T	uc002mab.3	-	3	536	c.345G>A	c.(343-345)acG>acA	p.T115T	STAP2_uc002mac.3_Silent_p.T115T|STAP2_uc021unb.1_Silent_p.T115T|STAP2_uc021unc.1_Silent_p.T115T|STAP2_uc002mad.3_Silent_p.T8T	NM_001013841	NP_001013863	Q9UGK3	STAP2_HUMAN	Homo sapiens signal transducing adaptor family member 2 (STAP2), transcript variant 2, mRNA.	115	PH.					cytoplasm|nucleus	protein binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTCCACCACCGTTAAGATGA	0.453000														35			13		0	0	1	0	0
PKMYT1	9088	broad.mit.edu	37	16	3024032	3024032	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:3024032G>A	uc002csn.3	-	6	1788	c.1279C>T	c.(1279-1281)Ctc>Ttc	p.L427F	PKMYT1_uc010uwn.2_Non-coding_Transcript|PKMYT1_uc002csm.3_Missense_Mutation_p.L427F|PKMYT1_uc002cso.3_Missense_Mutation_p.L358F|PKMYT1_uc002csq.3_Missense_Mutation_p.L418F|PKMYT1_uc010bsy.1_Missense_Mutation_p.L418F	NM_004203	NP_004194	Q99640	PMYT1_HUMAN	Homo sapiens protein kinase, membrane associated tyrosine/threonine 1 (PKMYT1), transcript variant 1, mRNA.	427	Interaction with PIN1.			L -> F (in Ref. 1; AAB71843).	G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of mitosis	Golgi membrane|endoplasmic reticulum membrane|membrane fraction|nucleoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	10						TTGCTGGAGAGGCTGCTGTCC	0.662000														11			12		0	0	1	0	0
OR6C1	390321	broad.mit.edu	37	12	55715121	55715121	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:55715121C>A	uc010spi.2	+	0	738	c.738C>A	c.(736-738)gtC>gtA	p.V246V		NM_001005182	NP_001005182	Q96RD1	OR6C1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 1 (OR6C1), mRNA.	246			V -> I (in dbSNP:rs7132916).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	25						TGGTTGTTGTCTCCATCTCTT	0.403000														50			33		2.54651e-27	3.34508e-27	1	1	0
GTSF1	121355	broad.mit.edu	37	12	54858868	54858868	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:54858868G>T	uc001sgb.3	-	2	186	c.100C>A	c.(100-102)Ctt>Att	p.L34I		NM_144594	NP_653195	Q8WW33	GTSF1_HUMAN	Homo sapiens gametocyte specific factor 1 (GTSF1), mRNA.	34							metal ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5		Myeloproliferative disorder(1001;0.00452)				CACTTGATAAGATGATAAGGA	0.398000														87			63		1.59245e-42	2.11772e-42	1	1	0
PNLIP	5406	broad.mit.edu	37	10	118321149	118321149	+	Splice_Site	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:118321149G>A	uc001lcm.3	+	12	1377	c.1334_splice	c.e12+1	p.Q445_splice		NM_000936	NP_000927	P16233	LIPP_HUMAN	Homo sapiens pancreatic lipase (PNLIP), mRNA.	445	PLAT.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	extracellular region	retinyl-palmitate esterase activity|triglyceride lipase activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43				all cancers(201;0.0131)	Bentiromide(DB00522)|Orlistat(DB01083)	TTGGAAAACAGTAAGTAATGA	0.363000														59			7		0	0	1	0	0
NSF	4905	broad.mit.edu	37	17	44791260	44791260	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:44791260G>A	uc002iku.3	+	14	1776	c.1669G>A	c.(1669-1671)Gca>Aca	p.A557T	NSF_uc010wke.2_Missense_Mutation_p.A463T|NSF_uc010wkf.2_Missense_Mutation_p.A463T|NSF_uc010wkg.2_Missense_Mutation_p.A552T	NM_006178	NP_006169	P46459	NSF_HUMAN	Homo sapiens N-ethylmaleimide-sensitive factor (NSF), transcript variant 1, mRNA.	557					protein transport|synaptic transmission	cytosol	ATP binding|metal ion binding			kidney(2)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	14		Melanoma(429;0.203)	BRCA - Breast invasive adenocarcinoma(9;0.0257)	BRCA - Breast invasive adenocarcinoma(366;0.241)		TGCAAAAATTGCAGAGGAATC	0.428000														26			9		0	0	1	0	0
FSHR	2492	broad.mit.edu	37	2	49195866	49195866	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:49195866G>A	uc002rww.3	-	8	935	c.825C>T	c.(823-825)tgC>tgT	p.C275C	FSHR_uc010fbn.3_Silent_p.C249C|FSHR_uc002rwx.3_Intron	NM_000145	NP_000136	P23945	FSHR_HUMAN	Homo sapiens follicle stimulating hormone receptor (FSHR), transcript variant 1, mRNA.	275					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	CAAAGGCACAGCAATGGCTGG	0.493000									Gonadal Dysgenesis, 46 XX					28			17		0	0	1	0	0
TM2D1	83941	broad.mit.edu	37	1	62190778	62190778	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:62190778C>T	uc001czz.1	-	0	318	c.15G>A	c.(13-15)tgG>tgA	p.W5*		NM_032027	NP_114416	Q9BX74	TM2D1_HUMAN	Homo sapiens TM2 domain containing 1 (TM2D1), mRNA.	5					apoptosis					large_intestine(2)|lung(3)|ovary(1)	6						GACCAGACGGCCAGGCGGCCG	0.652000														28			17		0	0	1	0	0
GPRIN3	285513	broad.mit.edu	37	4	90170998	90170998	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:90170998C>T	uc003hsm.1	-	1	783	c.264G>A	c.(262-264)caG>caA	p.Q88Q	GPRIN3_uc021xqb.1_Silent_p.Q88Q	NM_198281	NP_938022	Q6ZVF9	GRIN3_HUMAN	Homo sapiens GPRIN family member 3 (GPRIN3), mRNA.	88										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		CAGGTGCTTTCTGCACTTCAT	0.582000														84			5		0	0	1	0	0
C2orf16	84226	broad.mit.edu	37	2	27799629	27799629	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:27799629G>A	uc002rkz.4	+	0	241	c.190G>A	c.(190-192)Gag>Aag	p.E64K		NM_032266	NP_115642	Q68DN1	CB016_HUMAN	Homo sapiens chromosome 2 open reading frame 16 (C2orf16), mRNA.	64										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					GAAATCTTTGGAGTTTACTGT	0.413000														35			30		0	0	1	0	0
FUT6	2528	broad.mit.edu	37	19	5832132	5832132	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:5832132G>A	uc002mdf.1	-	3	973	c.447C>T	c.(445-447)gaC>gaT	p.D149D	FUT6_uc021unl.1_Silent_p.D149D|FUT6_uc002mdg.1_Silent_p.D149D|FUT6_uc002mdh.1_Silent_p.D149D|FUT6_uc021unm.1_Silent_p.D149D	NM_001040701	NP_001035791	P51993	FUT6_HUMAN	Homo sapiens fucosyltransferase 6 (alpha (1,3) fucosyltransferase) (FUT6), transcript variant 2, mRNA.	149					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)	6						TGAAGTATCCGTCCATGGCTT	0.657000														25			16		0	0	1	0	0
UPF1	5976	broad.mit.edu	37	19	18966764	18966764	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:18966764C>T	uc002nkg.3	+	11	1883	c.1608C>T	c.(1606-1608)atC>atT	p.I536I	UPF1_uc002nkf.3_Silent_p.I525I	NM_002911	NP_002902	Q92900	RENT1_HUMAN	Homo sapiens UPF1 regulator of nonsense transcripts homolog (yeast) (UPF1), mRNA.	536					DNA repair|DNA replication|cell cycle|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|DNA binding|RNA binding|chromatin binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						CGAGCAACATCGCCGTGGACC	0.602000														14			9		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179446359	179446359	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179446359T>C	uc021vsy.1	-	264	59157	c.58932A>G	c.(58930-58932)ctA>ctG	p.L19644L	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.L13339L|TTN_uc021vta.1_Silent_p.L13272L|TTN_uc021vtb.1_Silent_p.L13147L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	20571	Fibronectin type-III 42.						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)			GGGTTTTCTGTAGATTCTGTG	0.478000														23			8		0	0	1	0	0
TSC22D1	8848	broad.mit.edu	37	13	45008933	45008933	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:45008933A>G	uc001uzn.4	-	2	3542	c.3051T>C	c.(3049-3051)aaT>aaC	p.N1017N	TSC22D1_uc001uzo.2_Intron|TSC22D1_uc001uzm.4_Silent_p.N88N|TSC22D1_uc021riz.1_Silent_p.N30N|TSC22D1_uc021rja.1_Silent_p.N30N	NM_183422	NP_904358	Q15714	T22D1_HUMAN	Homo sapiens TSC22 domain family, member 1 (TSC22D1), transcript variant 1, mRNA.	1017	Leucine-zipper.				transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		CCAGCTGGGAATTTTTCTCTA	0.502000														83			10		0	0	1	0	0
CPD	1362	broad.mit.edu	37	17	28750624	28750624	+	Silent	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:28750624A>C	uc002hfb.2	+	5	1815	c.1758A>C	c.(1756-1758)ggA>ggC	p.G586G	CPD_uc010wbo.2_Silent_p.G339G|CPD_uc010wbp.2_Non-coding_Transcript	NM_001304	NP_001295	O75976	CBPD_HUMAN	Homo sapiens carboxypeptidase D (CPD), transcript variant 1, mRNA.	586	Carboxypeptidase-like 2.				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						AGAACTTTGGAACAGACCCTG	0.388000														53			18		0	0	1	0	0
CAMKK1	84254	broad.mit.edu	37	17	3776741	3776741	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:3776741C>T	uc002fwv.3	-	11	1274	c.1126G>A	c.(1126-1128)Gcc>Acc	p.A376T	CAMKK1_uc002fwt.3_Missense_Mutation_p.A338T|CAMKK1_uc002fwu.3_Missense_Mutation_p.A338T	NM_172207	NP_757344	Q8N5S9	KKCC1_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase kinase 1, alpha (CAMKK1), transcript variant 3, mRNA.	338	Protein kinase.				synaptic transmission	cytosol|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	11				LUAD - Lung adenocarcinoma(2;2.11e-05)|Lung(3;0.0176)		ACGCCAGTGGCCCATACATCC	0.632000														61			36		0	0	1	0	0
KRT84	3890	broad.mit.edu	37	12	52779070	52779070	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:52779070G>A	uc001sah.1	-	0	348	c.300C>T	c.(298-300)gaC>gaT	p.D100D		NM_033045	NP_149034	Q9NSB2	KRT84_HUMAN	Homo sapiens keratin 84 (KRT84), mRNA.	100	Head.					keratin filament	structural constituent of epidermis			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		CAACACAGCTGTCAGCCCTAG	0.597000														93			10		0	0	1	0	0
DNMBP	23268	broad.mit.edu	37	10	101646233	101646233	+	Nonsense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:101646233C>A	uc001kqj.2	-	12	3534	c.3442G>T	c.(3442-3444)Gag>Tag	p.E1148*	DNMBP_uc010qpl.1_Nonsense_Mutation_p.E84*|DNMBP_uc001kqg.2_Nonsense_Mutation_p.E436*|DNMBP_uc001kqh.2_Nonsense_Mutation_p.E780*	NM_015221	NP_056036	Q6XZF7	DNMBP_HUMAN	Homo sapiens dynamin binding protein (DNMBP), mRNA.	1148	BAR.				intracellular signal transduction|regulation of Rho protein signal transduction	Golgi stack|cell junction|cytoskeleton|synapse	Rho guanyl-nucleotide exchange factor activity|protein binding			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		TGCAGCTCCTCCAGGGTCTTC	0.542000														77			49		4.01344e-20	5.17398e-20	1	1	0
ARHGEF1	9138	broad.mit.edu	37	19	42396804	42396804	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:42396804G>A	uc002orx.3	+	6	607	c.498G>A	c.(496-498)acG>acA	p.T166T	ARHGEF1_uc002orw.1_Silent_p.T166T|ARHGEF1_uc002ory.3_Silent_p.T133T|ARHGEF1_uc002orz.3_Silent_p.T4T|ARHGEF1_uc002osa.3_Silent_p.T181T|ARHGEF1_uc002osb.3_Silent_p.T148T|ARHGEF1_uc002osc.3_5'Flank	NM_004706	NP_004697	Q92888	ARHG1_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 1 (ARHGEF1), transcript variant 2, mRNA.	166	RGSL.				Rho protein signal transduction|cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction	cytosol|plasma membrane	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|protein binding	p.V165M(1)		breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		TGGGCATGACGCCCTGGGAGC	0.697000														16			13		0	0	1	0	0
NAA16	79612	broad.mit.edu	37	13	41943238	41943238	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:41943238C>T	uc001uyf.2	+	14	2090	c.1766C>T	c.(1765-1767)gCc>gTc	p.A589V	NAA16_uc010tfg.1_Non-coding_Transcript	NM_024561	NP_078837	Q6N069	NAA16_HUMAN	Homo sapiens N(alpha)-acetyltransferase 16, NatA auxiliary subunit (NAA16), transcript variant 1, mRNA.	589					N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent	cytoplasm|transcription factor complex	binding			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|urinary_tract(2)	31						AACTTGTCAGCCAAAGAATTG	0.338000														51			18		0	0	1	0	0
SERPINE1	5054	broad.mit.edu	37	7	100779016	100779016	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100779016G>A	uc003uxt.3	+	6	1169	c.1021G>A	c.(1021-1023)Gcg>Acg	p.A341T	SERPINE1_uc011kkj.2_Missense_Mutation_p.A326T|SERPINE1_uc003uxu.2_3'UTR|SERPINE1_uc022aix.1_5'Flank	NM_000602	NP_000593	P05121	PAI1_HUMAN	Homo sapiens serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1 (SERPINE1), transcript variant 1, mRNA.	341					angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity	extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity	p.V340I(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20	Lung NSC(181;0.136)|all_lung(186;0.182)				Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013)	TCTCCACGTCGCGCAGGCGCT	0.582000														82			7		0	0	1	0	0
CHD5	26038	broad.mit.edu	37	1	6171834	6171834	+	Splice_Site	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:6171834C>T	uc001amb.2	-	36	5360	c.5249_splice	c.e36+1	p.T1750_splice	CHD5_uc001alz.2_Splice_Site_p.T607_splice|CHD5_uc001ama.2_Splice_Site	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 5 (CHD5), mRNA.	1750					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		GCCAAGGATACGTCACGATGC	0.647000														24			5		0	0	1	0	0
GTF2E1	2960	broad.mit.edu	37	3	120500072	120500072	+	Missense_Mutation	SNP	A	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:120500072A>T	uc003edz.4	+	4	1189	c.1075A>T	c.(1075-1077)Agt>Tgt	p.S359C		NM_005513	NP_005504	P29083	T2EA_HUMAN	Homo sapiens general transcription factor IIE, polypeptide 1, alpha 56kDa (GTF2E1), mRNA.	359					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)	22				GBM - Glioblastoma multiforme(114;0.159)		AAGCGAGACCAGTGAGTCAGA	0.532000														49			5		0	0	1	0	0
OR6T1	219874	broad.mit.edu	37	11	123813655	123813655	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:123813655C>T	uc010sab.2	-	0	891	c.891G>A	c.(889-891)gtG>gtA	p.V297V		NM_001005187	NP_001005187	Q8NGN1	OR6T1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily T, member 1 (OR6T1), mRNA.	297					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		GTGCTTGCTGCACCTTGTCAT	0.502000														107			46		0	0	1	0	0
PIAS1	8554	broad.mit.edu	37	15	68378743	68378743	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:68378743C>A	uc002aqz.3	+	1	217	c.124C>A	c.(124-126)Ctg>Atg	p.L42M	PIAS1_uc010ujx.2_Missense_Mutation_p.L42M	NM_016166	NP_057250	O75925	PIAS1_HUMAN	Homo sapiens protein inhibitor of activated STAT, 1 (PIAS1), mRNA.	42	SAP.				JAK-STAT cascade|androgen receptor signaling pathway|interferon-gamma-mediated signaling pathway|positive regulation of protein sumoylation|positive regulation of transcription, DNA-dependent|regulation of interferon-gamma-mediated signaling pathway|transcription, DNA-dependent	nuclear speck	DNA binding|SUMO ligase activity|androgen receptor binding|enzyme binding|transcription coactivator activity|transcription corepressor activity|zinc ion binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)	24						CACAAAAGCCCTGCATTTGCT	0.483000														29			4		1	1	1	1	0
KIF9	64147	broad.mit.edu	37	3	47307308	47307308	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:47307308C>T	uc010hjp.3	-	8	1432	c.828G>A	c.(826-828)gaG>gaA	p.E276E	KIF9_uc003cqx.3_Silent_p.E276E|KIF9_uc003cqy.3_Silent_p.E276E|KIF9_uc011bat.1_Non-coding_Transcript|KIF9_uc011bau.1_Non-coding_Transcript	NM_001134878	NP_878905	Q9HAQ2	KIF9_HUMAN	Homo sapiens kinesin family member 9 (KIF9), transcript variant 4, mRNA.	276					blood coagulation|microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(15)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)	34		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		TGATGGCCTGCTCCAGGAATG	0.542000														77			31		0	0	1	0	0
CSRNP3	80034	broad.mit.edu	37	2	166514426	166514426	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:166514426C>T	uc002udf.3	+	4	680	c.304C>T	c.(304-306)Cgc>Tgc	p.R102C	CSRNP3_uc002udg.3_Missense_Mutation_p.R102C	NM_001172173	NP_079245	Q8WYN3	CSRN3_HUMAN	Homo sapiens cysteine-serine-rich nuclear protein 3 (CSRNP3), transcript variant 1, mRNA.	102					apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						TAACAGCGTGCGCCAGTACAC	0.552000														26			12		0	0	1	0	0
C12orf44	60673	broad.mit.edu	37	12	52470943	52470943	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:52470943G>A	uc001rzu.4	+	3	1101	c.626G>A	c.(625-627)cGc>cAc	p.R209H	C12orf44_uc009zmd.3_Missense_Mutation_p.R209H|bpl_41-16_uc009zme.2_5'Flank	NM_021934	NP_068753	Q9BSB4	ATGA1_HUMAN	Homo sapiens chromosome 12 open reading frame 44 (C12orf44), transcript variant 1, mRNA.	209					autophagic vacuole assembly	pre-autophagosomal structure	identical protein binding|protein complex binding			endometrium(1)|lung(2)|ovary(1)	4				BRCA - Breast invasive adenocarcinoma(357;0.0978)		ACCACCATGCGCAGGCTCATC	0.567000														27			19		0	0	1	0	0
RNF126	55658	broad.mit.edu	37	19	650259	650259	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:650259C>T	uc010drs.3	-	4	593	c.481G>A	c.(481-483)Gcc>Acc	p.A161T		NM_194460	NP_919442	Q9BV68	RN126_HUMAN	Homo sapiens ring finger protein 126 (RNF126), mRNA.	161							protein binding|zinc ion binding			lung(1)	1		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGATGGTGGCGGGCGTGATG	0.692000														4			4		0	0	1	0	0
MUC20	200958	broad.mit.edu	37	3	195453068	195453068	+	Nonsense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:195453068G>T	uc010hzo.3	+	2	1207	c.1081G>T	c.(1081-1083)Gaa>Taa	p.E361*	MUC20_uc010hzp.3_Nonsense_Mutation_p.E326*|MUC20_uc011bte.1_Non-coding_Transcript	NM_152673	NP_689886	Q8N307	MUC20_HUMAN	Homo sapiens mucin 20, cell surface associated (MUC20), transcript variant L, mRNA.	532	12 X 20 AA approximate tandem repeats of S-S-E-S-S-A-S-S-D-S-P-H-P-V-I-T-P-S-R-A.|Ser-rich.		Missing.		protein homooligomerization	apical plasma membrane|basal plasma membrane|extracellular region|microvillus membrane				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)	23	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		TCCCCTTGAAGAAACCTCAGC	0.562000														12			6		0.00116845	0.00123466	1	1	0
HERC1	8925	broad.mit.edu	37	15	63928207	63928207	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:63928207G>A	uc002amp.3	-	64	12515	c.12367C>T	c.(12367-12369)Cgg>Tgg	p.R4123W		NM_003922	NP_003913	Q15751	HERC1_HUMAN	Homo sapiens hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1 (HERC1), mRNA.	4123					protein modification process|transport	Golgi apparatus|cytosol|membrane	ARF guanyl-nucleotide exchange factor activity|acid-amino acid ligase activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						CTGGGCCGCCGCTGCCTGTCG	0.502000														175			102		0	0	1	0	0
CDCP1	64866	broad.mit.edu	37	3	45160089	45160089	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:45160089C>T	uc003com.3	-	1	242	c.107G>A	c.(106-108)cGa>cAa	p.R36Q	CDCP1_uc003con.3_Missense_Mutation_p.R36Q	NM_022842	NP_073753	Q9H5V8	CDCP1_HUMAN	Homo sapiens CUB domain containing protein 1 (CDCP1), transcript variant 1, mRNA.	36						extracellular region|integral to membrane|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		GTTGCTTTCTCGTGGCAGAGC	0.458000														38			16		0	0	1	0	0
FUT5	2527	broad.mit.edu	37	19	5867076	5867076	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:5867076G>A	uc002mdo.4	-	1	832	c.661C>T	c.(661-663)Cgc>Tgc	p.R221C	FUT5_uc010duo.3_Missense_Mutation_p.R221C|FUT5_uc021uno.1_Missense_Mutation_p.R221C	NM_002034	NP_002025	Q11128	FUT5_HUMAN	Homo sapiens fucosyltransferase 5 (alpha (1,3) fucosyltransferase) (FUT5), mRNA.	221					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12						TGGTAGTAGCGCACCCTGGCC	0.667000														25			15		0	0	1	0	0
NNT	23530	broad.mit.edu	37	5	43655960	43655960	+	Missense_Mutation	SNP	G	A	A	rs139987446		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:43655960G>A	uc003joe.3	+	14	2333	c.2078G>A	c.(2077-2079)cGc>cAc	p.R693H	NNT_uc003jof.3_Missense_Mutation_p.R693H	NM_012343	NP_892022	Q13423	NNTM_HUMAN	Homo sapiens nicotinamide nucleotide transhydrogenase (NNT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	693					tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)				NADH(DB00157)	ATTGCCAAACGCATCCAGATT	0.348000														30			15		0	0	1	0	0
GRID1	2894	broad.mit.edu	37	10	87628915	87628915	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:87628915A>G	uc001kdl.1	-	5	904	c.803T>C	c.(802-804)cTg>cCg	p.L268P	GRID1_uc009xsu.1_Non-coding_Transcript	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 1 (GRID1), mRNA.	268						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	p.I267T(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	GACCAGATCCAGGATCTCCGG	0.502000										Multiple Myeloma(13;0.14)				70			6		0	0	1	0	0
HECTD1	25831	broad.mit.edu	37	14	31597844	31597844	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:31597844A>G	uc001wrc.1	-	24	5222	c.4733T>C	c.(4732-4734)tTg>tCg	p.L1578S	HECTD1_uc001wrb.1_5'UTR|HECTD1_uc001wrd.1_Missense_Mutation_p.L1046S	NM_015382	NP_056197	Q9ULT8	HECD1_HUMAN	Homo sapiens HECT domain containing 1 (HECTD1), mRNA.	1578	Ser-rich.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		ATTCCTCCCCAAAGTATTAGT	0.443000														64			8		0	0	1	0	0
ARID2	196528	broad.mit.edu	37	12	46244611	46244611	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:46244611C>A	uc001ros.1	+	14	2705	c.2705C>A	c.(2704-2706)cCt>cAt	p.P902H	ARID2_uc001ror.3_Missense_Mutation_p.P902H|ARID2_uc009zkg.1_Missense_Mutation_p.P358H|ARID2_uc009zkh.1_Missense_Mutation_p.P529H|ARID2_uc001rou.1_Missense_Mutation_p.P236H	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	Homo sapiens AT rich interactive domain 2 (ARID, RFX-like) (ARID2), mRNA.	902	Gln-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		AAACCTCTCCCTTCTCAGCAA	0.468000			"""N, S, F"""		hepatocellular carcinoma									99			12		2.80697e-09	3.3309e-09	1	1	0
FCGR2C	9103	broad.mit.edu	37	1	161569458	161569458	+	RNA	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:161569458A>G	uc021pdi.1	+	6		c.936A>G				NM_201563				Homo sapiens Fc fragment of IgG, low affinity IIc, receptor for (CD32) (gene/pseudogene) (FCGR2C), mRNA.											lung(2)	2	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			gaaagagacaacctgaagaaa	0.443000														23			18		0	0	1	0	0
IL16	3603	broad.mit.edu	37	15	81593699	81593699	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:81593699G>T	uc021ssh.1	+	13	3265	c.3164G>T	c.(3163-3165)aGa>aTa	p.R1055I	IL16_uc010blq.1_Missense_Mutation_p.R1009I|IL16_uc002bge.4_Non-coding_Transcript|IL16_uc010unp.2_Missense_Mutation_p.R1097I|IL16_uc002bgg.3_Missense_Mutation_p.R1055I|IL16_uc002bgi.1_Missense_Mutation_p.R445I|IL16_uc002bgj.3_Missense_Mutation_p.R549I|IL16_uc021ssi.1_Missense_Mutation_p.R354I|IL16_uc002bgl.1_Missense_Mutation_p.R354I|IL16_uc010unq.1_Missense_Mutation_p.R354I	NM_172217	NP_757366	Q14005	IL16_HUMAN	Homo sapiens interleukin 16 (IL16), transcript variant 2, mRNA.	1055	Interaction with HTLV-1 tax.				immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						TCAGAGCTGAGAGAATATACA	0.438000														40			5		1.23904e-05	1.3743e-05	1	1	0
DSP	1832	broad.mit.edu	37	6	7584793	7584793	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:7584793G>A	uc003mxp.1	+	23	7577	c.7298G>A	c.(7297-7299)tGc>tAc	p.C2433Y	DSP_uc003mxq.1_Missense_Mutation_p.C1834Y|DSP_uc021yle.1_Missense_Mutation_p.C1990Y	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	2433	Globular 2.				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)		AAAGAAAGATGCATTAAGGAT	0.413000														86			14		0	0	1	0	0
PCDHB7	56129	broad.mit.edu	37	5	140554240	140554240	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140554240G>A	uc003lit.3	+	0	1998	c.1824G>A	c.(1822-1824)aaG>aaA	p.K608K		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	Homo sapiens protocadherin beta 7 (PCDHB7), mRNA.	608	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGCTGCTCAAGGCCACGGAGC	0.711000														81			9		0	0	1	0	0
CSN3	1448	broad.mit.edu	37	4	71110547	71110547	+	Missense_Mutation	SNP	T	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:71110547T>A	uc003hfe.4	+	1	69	c.11T>A	c.(10-12)tTt>tAt	p.F4Y		NM_005212	NP_005203	P07498	CASK_HUMAN	Homo sapiens casein kappa (CSN3), mRNA.	4						extracellular region	protein binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						ATGAAGAGTTTTCTTCTAGTT	0.284000														45			7		0	0	1	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85449803	85449803	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:85449803G>T	uc001tac.3	+	7	1343	c.1232G>T	c.(1231-1233)aGt>aTt	p.S411I	LRRIQ1_uc021rbo.1_Missense_Mutation_p.S289I|LRRIQ1_uc001taa.1_Missense_Mutation_p.S386I	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 1 (LRRIQ1), mRNA.	411										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		AAACATTTAAGTCTTGAAGAT	0.318000														63			33		9.17885e-22	1.18973e-21	1	1	0
TUBA1A	7846	broad.mit.edu	37	12	49580426	49580426	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:49580426G>A	uc009zlf.3	-	1	466	c.194C>T	c.(193-195)gCa>gTa	p.A65V	TUBA1A_uc001rtp.3_Missense_Mutation_p.A65V	NM_006009	NP_006000	Q71U36	TBA1A_HUMAN	Homo sapiens tubulin, alpha 1a (TUBA1A), mRNA.	65					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|structural molecule activity			stomach(1)|upper_aerodigestive_tract(1)	2						TACAAACACTGCCCGGGGCAC	0.572000														79			10		0	0	1	0	0
CHD6	84181	broad.mit.edu	37	20	40033814	40033814	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:40033814G>T	uc002xka.1	-	36	7745	c.7567C>A	c.(7567-7569)Cca>Aca	p.P2523T	CHD6_uc002xjz.1_Missense_Mutation_p.P60T	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 6 (CHD6), mRNA.	2523					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|chromatin binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				GCCATGCCTGGCAGCATCATG	0.597000														39			28		1.12875e-08	1.32934e-08	1	1	0
ZBTB5	9925	broad.mit.edu	37	9	37442057	37442057	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:37442057G>A	uc022bgv.1	-	0	492	c.492C>T	c.(490-492)ggC>ggT	p.G164G	ZBTB5_uc003zzx.3_Silent_p.G164G	NM_014872	NP_055687	O15062	ZBTB5_HUMAN	Homo sapiens zinc finger and BTB domain containing 5 (ZBTB5), mRNA.	164					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	8				GBM - Glioblastoma multiforme(29;0.00733)|Lung(182;0.226)		GCTGCTCCTCGCCATTCTGGC	0.602000														45			22		0	0	1	0	0
ZMYM3	9203	broad.mit.edu	37	X	70463819	70463819	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:70463819G>A	uc004dzh.2	-	20	3471	c.3292C>T	c.(3292-3294)Cgt>Tgt	p.R1098C	BCYRN1_uc011mpt.1_Intron|ZMYM3_uc004dzi.2_Missense_Mutation_p.R1098C|ZMYM3_uc004dzj.2_Missense_Mutation_p.R1086C	NM_201599	NP_963893	Q14202	ZMYM3_HUMAN	Homo sapiens zinc finger, MYM-type 3 (ZMYM3), transcript variant 1, mRNA.	1098					multicellular organismal development	nucleus	DNA binding|zinc ion binding	p.R1098C(2)|p.R1098fs*22(2)		breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					TCTTTGATACGCATGGGTTTG	0.478000														21			8		0	0	1	0	0
ATP6V1A	523	broad.mit.edu	37	3	113517137	113517137	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:113517137C>A	uc003eao.3	+	11	1446	c.1338C>A	c.(1336-1338)ccC>ccA	p.P446P	ATP6V1A_uc011bik.2_Silent_p.P413P	NM_001690	NP_001681	P38606	VATA_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A (ATP6V1A), mRNA.	446					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|integral to plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AGCATTTCCCCTCTGTCAATT	0.393000														170			17		1.78486e-19	2.29754e-19	1	1	0
OR6A2	8590	broad.mit.edu	37	11	6816879	6816879	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6816879G>A	uc001mes.1	-	0	261	c.61C>T	c.(61-63)Cct>Tct	p.P21S		NM_003696	NP_003687	O95222	OR6A2_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily A, member 2 (OR6A2), mRNA.	21					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(4)|pancreas(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	29		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		AGTGGCGCAGGAGCAGGGAAG	0.493000														35			22		0	0	1	0	0
AQP3	360	broad.mit.edu	37	9	33442904	33442904	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:33442904G>T	uc003zsx.3	-	3	541	c.438C>A	c.(436-438)atC>atA	p.I146I	AQP3_uc010mju.3_Silent_p.I146I|AQP3_uc003zsv.2_3'UTR	NM_004925	NP_004916	Q92482	AQP3_HUMAN	Homo sapiens aquaporin 3 (Gill blood group) (AQP3), mRNA.	146					excretion|odontogenesis|positive regulation of immune system process|regulation of keratinocyte differentiation|response to calcium ion|response to retinoic acid|response to vitamin D	basolateral plasma membrane|cell-cell junction|cytoplasm	glycerol channel activity|water channel activity			endometrium(2)|large_intestine(3)|lung(2)|ovary(1)	8			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.0899)		AGGTAGCAAAGATGCCGGCTG	0.562000														104			10		2.74318e-10	3.3084e-10	1	1	0
DENND3	22898	broad.mit.edu	37	8	142175310	142175310	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:142175310C>A	uc003yvy.3	+	10	1513	c.1235C>A	c.(1234-1236)tCt>tAt	p.S412Y	DENND3_uc010mep.3_Missense_Mutation_p.S373Y|DENND3_uc003yvz.1_Missense_Mutation_p.S96Y	NM_014957	NP_055772	A2RUS2	DEND3_HUMAN	Homo sapiens DENN/MADD domain containing 3 (DENND3), mRNA.	412	dDENN.									breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			ATGTTCCATTCTTTTCTTAAA	0.557000														50			40		3.43241e-23	4.46986e-23	1	1	0
CDC42BPB	9578	broad.mit.edu	37	14	103410669	103410669	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:103410669G>A	uc001ymi.1	-	29	4199	c.3967C>T	c.(3967-3969)Ccg>Tcg	p.P1323S	CDC42BPB_uc001ymj.1_Missense_Mutation_p.P425S	NM_006035	NP_006026	Q9Y5S2	MRCKB_HUMAN	Homo sapiens CDC42 binding protein kinase beta (DMPK-like) (CDC42BPB), mRNA.	1323	CNH.				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		TTGGTTTCCGGAAGCTTGATG	0.562000														14			17		0	0	1	0	0
KIAA2018	205717	broad.mit.edu	37	3	113377544	113377544	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:113377544G>T	uc003eam.3	-	6	3396	c.2985C>A	c.(2983-2985)acC>acA	p.T995T	KIAA2018_uc003eal.3_Silent_p.T939T	NM_001009899	NP_001009899	Q68DE3	K2018_HUMAN	Homo sapiens KIAA2018 (KIAA2018), mRNA.	995					regulation of transcription, DNA-dependent	membrane|nucleus	DNA binding|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						AGAGACCTGTGGTTTGCATTG	0.388000														134			13		3.27435e-08	3.82583e-08	1	1	0
PRDM10	56980	broad.mit.edu	37	11	129772399	129772399	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:129772399A>G	uc001qfm.3	-	21	3524	c.3292T>C	c.(3292-3294)Tta>Cta	p.L1098L	PRDM10_uc001qfj.3_Silent_p.L999L|PRDM10_uc001qfk.3_Silent_p.L961L|PRDM10_uc001qfl.3_Silent_p.L1012L|PRDM10_uc010sbx.2_Silent_p.L1008L|PRDM10_uc001qfn.3_Silent_p.L1094L	NM_020228	NP_064613	Q9NQV6	PRD10_HUMAN	Homo sapiens PR domain containing 10 (PRDM10), transcript variant 1, mRNA.	1085					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		CTTTCTGATAACACATAATGA	0.488000														31			13		0	0	1	0	0
TMEM82	388595	broad.mit.edu	37	1	16070707	16070707	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:16070707C>T	uc001axc.3	+	3	527	c.389C>T	c.(388-390)tCg>tTg	p.S130L		NM_001013641	NP_001013663	A0PJX8	TMM82_HUMAN	Homo sapiens transmembrane protein 82 (TMEM82), mRNA.	130	Leu-rich.					integral to membrane				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|lung(5)|prostate(1)|skin(1)	13		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGCCAGTACTCGCTGGGCTGC	0.706000														8			6		0	0	1	0	0
SAMD10	140700	broad.mit.edu	37	20	62608449	62608449	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:62608449G>A	uc002yhm.2	-	2	495	c.320C>T	c.(319-321)tCg>tTg	p.S107L	SAMD10_uc002yhn.2_Non-coding_Transcript	NM_080621	NP_542188	Q9BYL1	SAM10_HUMAN	Homo sapiens sterile alpha motif domain containing 10 (SAMD10), mRNA.	107										kidney(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|prostate(1)	7	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					GCCACCCAGCGAGGGGCTTGT	0.637000														47			19		0	0	1	0	0
KRT85	3891	broad.mit.edu	37	12	52758805	52758805	+	Silent	SNP	G	A	A	rs138930362		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:52758805G>A	uc001sag.3	-	1	690	c.570C>T	c.(568-570)agC>agT	p.S190S		NM_002283	NP_002274	P78386	KRT85_HUMAN	Homo sapiens keratin 85 (KRT85), mRNA.	190	Coil 1B.|Rod.				epidermis development	keratin filament	protein binding|structural molecule activity			NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		CCAGCCTCCCGCTGTCGGCCT	0.622000														58			42		0	0	1	0	0
DHX29	54505	broad.mit.edu	37	5	54579475	54579475	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:54579475T>C	uc003jpx.3	-	10	1641	c.1521A>G	c.(1519-1521)caA>caG	p.Q507Q	DHX29_uc010ivw.3_Non-coding_Transcript	NM_019030	NP_061903	Q7Z478	DHX29_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 29 (DHX29), mRNA.	507							ATP binding|ATP-dependent helicase activity|translation initiation factor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				CAGAATGCTGTTGTTGCTGCT	0.368000														136			7		0	0	1	0	0
HYI	81888	broad.mit.edu	37	1	43917949	43917949	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:43917949C>T	uc001cjo.3	-	2	549	c.353G>A	c.(352-354)cGa>cAa	p.R118Q	SZT2_uc001cjk.2_3'UTR|SZT2_uc001cjl.2_3'UTR|HYI_uc021omp.1_Missense_Mutation_p.R45Q|HYI_uc001cjm.3_Missense_Mutation_p.R45Q|HYI_uc021omq.1_Missense_Mutation_p.R143Q|HYI_uc001cjn.3_Missense_Mutation_p.R118Q	NM_001190880	NP_001177809	Q5T013	HYI_HUMAN	Homo sapiens hydroxypyruvate isomerase (putative) (HYI), transcript variant 3, mRNA.	118							hydroxypyruvate isomerase activity			large_intestine(1)|lung(2)|ovary(1)|urinary_tract(2)	6	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GACTGCTATTCGATCAGCTCC	0.572000														17			9		0	0	1	0	0
FCRL5	83416	broad.mit.edu	37	1	157509147	157509147	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:157509147C>T	uc009wsm.3	-	6	1289	c.1131G>A	c.(1129-1131)gtG>gtA	p.V377V	FCRL5_uc001fqu.3_Silent_p.V377V|FCRL5_uc010phv.1_Silent_p.V377V|FCRL5_uc010phw.1_Silent_p.V292V|FCRL5_uc001fqv.1_Silent_p.V377V|FCRL5_uc010phx.2_Silent_p.V128V	NM_001195388	NP_001182317	Q96RD9	FCRL5_HUMAN	Homo sapiens Fc receptor-like 5 (FCRL5), transcript variant 2, mRNA.	377						integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				CAGGATGAGACACGGGAACTG	0.458000														18			8		0	0	1	0	0
BARHL2	343472	broad.mit.edu	37	1	91182144	91182144	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:91182144G>A	uc001dns.3	-	0	651	c.609C>T	c.(607-609)agC>agT	p.S203S		NM_020063	NP_064447	Q9NY43	BARH2_HUMAN	Homo sapiens BarH-like homeobox 2 (BARHL2), mRNA.	203						nucleus	sequence-specific DNA binding			cervix(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_lung(203;0.0263)|Lung SC(238;0.128)		all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211)		ATTTGATGTCGCTCTGGGAAT	0.607000														83			21		0	0	1	0	0
C5	727	broad.mit.edu	37	9	123744139	123744139	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:123744139C>T	uc004bkv.3	-	26	3499	c.3469G>A	c.(3469-3471)Gat>Aat	p.D1157N		NM_001735	NP_001726	P01031	CO5_HUMAN	Homo sapiens complement component 5 (C5), mRNA.	1157					G-protein coupled receptor protein signaling pathway|activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	GGGCATATATCGAAAGCCTTT	0.408000														20			14		0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176525904	176525904	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:176525904G>A	uc001gkz.3	+	1	1610	c.446G>A	c.(445-447)gGc>gAc	p.G149D	PAPPA2_uc001gky.1_Missense_Mutation_p.G149D|PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	149					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GCTTATCTCGGCAATCAAAGA	0.552000														107			50		0	0	1	0	0
SNAPC1	6617	broad.mit.edu	37	14	62259551	62259551	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:62259551G>A	uc001xft.3	+	8	1107	c.1003G>A	c.(1003-1005)Gat>Aat	p.D335N		NM_003082	NP_003073	Q16533	SNPC1_HUMAN	Homo sapiens small nuclear RNA activating complex, polypeptide 1, 43kDa (SNAPC1), mRNA.	335					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)	13				OV - Ovarian serous cystadenocarcinoma(108;0.0639)|BRCA - Breast invasive adenocarcinoma(234;0.186)		ACACAAGGAAGATAAACCTTT	0.289000														47			27		0	0	1	0	0
ORC1	4998	broad.mit.edu	37	1	52863359	52863359	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:52863359G>A	uc001ctt.3	-	3	631	c.400C>T	c.(400-402)Cgg>Tgg	p.R134W	ORC1_uc010oni.2_Missense_Mutation_p.R134W|ORC1_uc001ctu.3_Missense_Mutation_p.R134W	NM_004153	NP_004144	Q13415	ORC1_HUMAN	Homo sapiens origin recognition complex, subunit 1 (ORC1), transcript variant 1, mRNA.	134	BAH.				DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol|nuclear origin of replication recognition complex|nucleolus|nucleoplasm|plasma membrane	ATP binding|DNA binding|nucleoside-triphosphatase activity|protein binding			breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						TCACCTACCCGAACAAGGCCA	0.493000														47			4		0	0	1	0	0
PFKFB1	5207	broad.mit.edu	37	X	54960307	54960307	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:54960307C>T	uc004dty.1	-	12	1374	c.1303G>A	c.(1303-1305)Gaa>Aaa	p.E435K	PFKFB1_uc010nkd.1_Missense_Mutation_p.E243K|PFKFB1_uc011mol.1_Missense_Mutation_p.E370K	NM_002625	NP_002616	P16118	F261_HUMAN	Homo sapiens 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 (PFKFB1), mRNA.	435	Fructose-2,6-bisphosphatase.				energy reserve metabolic process|fructose 2,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|intracellular protein kinase cascade	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 complex	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)	24						TAGATGGATTCCACTTTGCAG	0.567000														16			7		0	0	1	0	0
FGF10	2255	broad.mit.edu	37	5	44305208	44305208	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:44305208A>G	uc003jog.1	-	2	516	c.516T>C	c.(514-516)aaT>aaC	p.N172N		NM_004465	NP_004456	O15520	FGF10_HUMAN	Homo sapiens fibroblast growth factor 10 (FGF10), mRNA.	172					ERK1 and ERK2 cascade|actin cytoskeleton reorganization|activation of MAPK activity|bud outgrowth involved in lung branching|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|insulin receptor signaling pathway|lacrimal gland development|lung saccule development|mesonephros development|negative regulation of cell cycle arrest|positive regulation of ATPase activity|positive regulation of DNA repair|positive regulation of DNA replication|positive regulation of ERK1 and ERK2 cascade|positive regulation of Ras protein signal transduction|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell migration|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of hair follicle cell proliferation|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of lymphocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of urothelial cell proliferation|protein localization at cell surface|radial glial cell differentiation|regulation of saliva secretion|response to protein stimulus|secretion by lung epithelial cell involved in lung growth|tear secretion|thymus development|urothelial cell proliferation	cell surface|extracellular space|nucleus|plasma membrane	chemoattractant activity|growth factor activity|heparin binding|type 2 fibroblast growth factor receptor binding			haematopoietic_and_lymphoid_tissue(1)|lung(11)|skin(1)	13	Lung NSC(6;1.12e-06)					TTTGCCTCCCATTATGCTGCC	0.408000														147			9		0	0	1	0	0
ATP5J2-PTCD1	100526740	broad.mit.edu	37	7	99026725	99026725	+	Splice_Site	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:99026725C>A	uc011kiw.2	-	6	1122	c.1062_splice	c.e6+1	p.Q354_splice	ATP5J2-PTCD1_uc003uqh.3_Splice_Site_p.Q305_splice	NM_001198879	NP_001185808	B4DJ38	B4DJ38_HUMAN	Homo sapiens ATP5J2-PTCD1 readthrough (ATP5J2-PTCD1), mRNA.	354																	GAGGGACATACCTGGAGGGCG	0.572000														61			88		4.21773e-46	5.61548e-46	1	1	0
VPS36	51028	broad.mit.edu	37	13	53013245	53013245	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:53013245C>T	uc001vgs.3	-	2	258	c.224G>A	c.(223-225)gGa>gAa	p.G75E	VPS36_uc001vgq.3_Missense_Mutation_p.G17E	NM_016075	NP_057159	Q86VN1	VPS36_HUMAN	Homo sapiens vacuolar protein sorting 36 homolog (S. cerevisiae) (VPS36), mRNA.	75	GLUE N-terminal.				cellular membrane organization|endosome transport|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|late endosome|membrane|nucleus	lipid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	17		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.14e-08)		CTTCCCAATTCCAGCCGCCTG	0.403000														23			10		0	0	1	0	0
SPATA5	166378	broad.mit.edu	37	4	123978389	123978389	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:123978389C>T	uc003iez.4	+	12	2232	c.2159C>T	c.(2158-2160)gCg>gTg	p.A720V		NM_145207	NP_660208	Q8NB90	SPAT5_HUMAN	Homo sapiens spermatogenesis associated 5 (SPATA5), mRNA.	720					cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						AGAGCAGTGGCGCCTTCCATT	0.378000														46			22		0	0	1	0	0
KSR1	8844	broad.mit.edu	37	17	25909752	25909752	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:25909752C>A	uc010crg.3	+	4	635	c.190C>A	c.(190-192)Ctc>Atc	p.L64I	KSR1_uc002gzj.1_Intron	NM_014238	NP_055053	Q8IVT5	KSR1_HUMAN	Homo sapiens kinase suppressor of ras 1 (KSR1), mRNA.	199					Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		CACGGACACCCTCTCAGCAGC	0.667000														26			13		1.49906e-05	1.66078e-05	1	1	0
TTC6	319089	broad.mit.edu	37	14	38281612	38281612	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:38281612C>A	uc001wuj.3	+	7	955	c.853C>A	c.(853-855)Cta>Ata	p.L285I	TTC6_uc001wug.3_Intron|TTC6_uc001wuh.3_Missense_Mutation_p.L188I|TTC6_uc001wui.3_Non-coding_Transcript					SubName: Full=TTC6 protein;											central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	14	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;1.59e-06)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0543)|all cancers(34;0.108)|BRCA - Breast invasive adenocarcinoma(188;0.156)|LUSC - Lung squamous cell carcinoma(13;0.176)	GBM - Glioblastoma multiforme(112;0.00551)		CTACGTAGAACTAGGCCAGTA	0.378000														78			10		2.17888e-05	2.40634e-05	1	1	0
CDCA3	83461	broad.mit.edu	37	12	6958590	6958590	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:6958590G>T	uc001qrg.2	-	4	676	c.548C>A	c.(547-549)tCt>tAt	p.S183Y	CDCA3_uc001qre.2_Intron|CDCA3_uc001qrf.1_5'Flank|USP5_uc001qrh.4_5'Flank|USP5_uc001qri.4_5'Flank	NM_031299	NP_112589	Q99618	CDCA3_HUMAN	Homo sapiens cell division cycle associated 3 (CDCA3), mRNA.	183					cell division|mitosis	cytosol				breast(1)|endometrium(1)|large_intestine(4)|lung(1)|stomach(1)	8						ATTGCGCATAGAACCTGGGGT	0.507000														35			15		1.05317e-09	1.25904e-09	1	1	0
LAT	27040	broad.mit.edu	37	16	28997063	28997063	+	Splice_Site	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:28997063T>C	uc010vdj.2	+	3	272	c.236_splice	c.e3+2	p.S79_splice	NPIPL1_uc010vct.2_Intron|LAT_uc002dsb.3_Splice_Site_p.S43_splice|LAT_uc002dsd.3_Splice_Site_p.S43_splice|LAT_uc002dsc.3_Splice_Site_p.S43_splice|LAT_uc010vdk.1_Splice_Site_p.S43_splice|LAT_uc010vdl.1_Splice_Site_p.S43_splice	NM_001014989	NP_001014987	O43561	LAT_HUMAN	Homo sapiens linker for activation of T cells (LAT), transcript variant 4, mRNA.	43					Ras protein signal transduction|T cell receptor signaling pathway|calcium-mediated signaling|integrin-mediated signaling pathway|mast cell degranulation|platelet activation|regulation of T cell activation	immunological synapse|integral to membrane|intracellular|membrane raft	SH3/SH2 adaptor activity			large_intestine(2)|lung(3)|urinary_tract(1)	6		Hepatocellular(780;0.244)				CTCAGATAGGTGAGTCCGCCC	0.647000														103			74		0	0	1	0	0
CNN2	1265	broad.mit.edu	37	19	1037633	1037633	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:1037633A>G	uc002lqu.3	+	6	1027	c.664A>G	c.(664-666)Acg>Gcg	p.T222A	ABCA7_uc002lqw.4_5'Flank|CNN2_uc002lqv.3_Missense_Mutation_p.T183A|CNN2_uc010xgb.2_Missense_Mutation_p.T211A|CNN2_uc010xgc.2_Missense_Mutation_p.T243A|ABCA7_uc010dsa.3_5'Flank	NM_004368	NP_004359	Q99439	CNN2_HUMAN	Homo sapiens calponin 2 (CNN2), transcript variant 1, mRNA.	222					actomyosin structure organization|cellular response to mechanical stimulus|regulation of actin filament-based process	cell-cell junction|stress fiber	actin binding|calmodulin binding			endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGTGGGCATGACGGCTCCCGG	0.617000														114			10		0	0	1	0	0
NCOR1	9611	broad.mit.edu	37	17	15973653	15973653	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:15973653G>T	uc002gpo.3	-	30	4608	c.4339C>A	c.(4339-4341)Cgg>Agg	p.R1447R	NCOR1_uc002gpn.3_Silent_p.R1463R|NCOR1_uc002gpp.1_Silent_p.R1354R|NCOR1_uc002gpm.3_5'Flank|NCOR1_uc010vwb.2_Silent_p.R31R|NCOR1_uc010coy.3_Silent_p.R355R|NCOR1_uc010vwc.2_Silent_p.R258R	NM_006311	NP_006302	O75376	NCOR1_HUMAN	Homo sapiens nuclear receptor corepressor 1 (NCOR1), transcript variant 1, mRNA.	1447	Interaction with ETO.				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GACGTGTGCCGGGAACGCACG	0.532000														69			46		8.01111e-26	1.04961e-25	1	1	0
CASP1	834	broad.mit.edu	37	11	104897599	104897599	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:104897599A>G	uc001pim.4	-	7	1086	c.1086T>C	c.(1084-1086)tgT>tgC	p.C362C	CASP1_uc001pig.3_Silent_p.C269C|CASP1_uc021qpq.1_Silent_p.C341C|CASP1_uc021qpr.1_Silent_p.C221C|CASP1_uc021qps.1_Silent_p.C46C|CASP1_uc021qpp.1_Silent_p.C362C|CASP1_uc021qpt.1_Silent_p.C269C|CASP1_uc010rve.2_Silent_p.C362C|CASP1_uc010rvf.2_Silent_p.C269C|CASP1_uc010rvg.2_Silent_p.C341C|CASP1_uc010rvh.2_Silent_p.C221C|CASP1_uc010rvi.2_Silent_p.C46C|CASP1_uc009yxi.3_Silent_p.C341C|CASP1_uc021qpu.1_Silent_p.C269C|CASP1_uc021qpv.1_Silent_p.C341C|CASP1_uc021qpw.1_Silent_p.C221C|CASP1_uc021qpx.1_Silent_p.C46C|CASP1_uc010rvj.2_Silent_p.C362C|CASP1_uc009yxj.3_Silent_p.C207C|CASP1_uc010rvk.2_3'UTR	NM_033292	NP_150634	P29466	CASP1_HUMAN	Homo sapiens caspase 1, apoptosis-related cysteine peptidase (interleukin 1, beta, convertase) (CASP1), transcript variant alpha, mRNA.	362					cellular response to mechanical stimulus|cellular response to organic substance|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis|signal transduction	cytosol	caspase activator activity|cysteine-type endopeptidase activity|protein binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	Minocycline(DB01017)|Penicillamine(DB00859)	CATCACAGGAACAGGCATATT	0.398000														74			17		0	0	1	0	0
FAM222B	55731	broad.mit.edu	37	17	27086078	27086078	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:27086078C>T	uc002hct.1	-	2	1166	c.899G>A	c.(898-900)cGc>cAc	p.R300H	FAM222B_uc010wax.1_Missense_Mutation_p.R300H|FAM222B_uc010way.1_Missense_Mutation_p.R300H|FAM222B_uc002hcw.3_Missense_Mutation_p.R172H	NM_018182	NP_060652	Q8WU58	CQ063_HUMAN	Homo sapiens chromosome 17 open reading frame 63 (C17orf63), transcript variant 2, mRNA.	300																	GAGCAGACTGCGACTAATGGG	0.597000														8			6		0	0	1	0	0
MKL2	57496	broad.mit.edu	37	16	14307467	14307467	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:14307467C>T	uc010uza.2	+	5	497	c.342C>T	c.(340-342)caC>caT	p.H114H	MKL2_uc002dcg.3_Silent_p.H114H|MKL2_uc002dch.3_Silent_p.H103H|MKL2_uc010uzb.2_Silent_p.H63H	NM_014048	NP_054767	Q9ULH7	MKL2_HUMAN	Homo sapiens MKL/myocardin-like 2 (MKL2), mRNA.	103					cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TCAGGATGCACATTTTAGAAG	0.303000														58			33		0	0	1	0	0
SLC35D1	23169	broad.mit.edu	37	1	67470071	67470071	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:67470071C>T	uc001ddk.2	-	11	1404	c.1020G>A	c.(1018-1020)caG>caA	p.Q340Q		NM_015139	NP_055954	Q9NTN3	S35D1_HUMAN	Homo sapiens solute carrier family 35 (UDP-glucuronic acid/UDP-N-acetylgalactosamine dual transporter), member D1 (SLC35D1), mRNA.	340					UDP-glucuronate biosynthetic process|chondroitin sulfate biosynthetic process|xenobiotic metabolic process	integral to endoplasmic reticulum membrane	UDP-N-acetylgalactosamine transmembrane transporter activity|UDP-glucuronic acid transmembrane transporter activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)	10					Lorazepam(DB00186)	TAGCCTCTGACTGTTTGCTCA	0.448000														38			20		0	0	1	0	0
AGXT2	64902	broad.mit.edu	37	5	35040694	35040694	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:35040694G>A	uc003jjf.3	-	1	406	c.163C>T	c.(163-165)Cct>Tct	p.P55S	AGXT2_uc011com.2_Missense_Mutation_p.P55S|AGXT2_uc011con.2_Intron|AGXT2_uc021xxk.1_Missense_Mutation_p.P54S	NM_031900	NP_114106	Q9BYV1	AGT2_HUMAN	Homo sapiens alanine--glyoxylate aminotransferase 2 (AGXT2), nuclear gene encoding mitochondrial protein, mRNA.	55					glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)	TATCTTTCAGGCATGAAGTCA	0.423000														70			37		0	0	1	0	0
CNDP1	84735	broad.mit.edu	37	18	72244143	72244143	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:72244143G>A	uc002llq.3	+	7	1092	c.881G>A	c.(880-882)gGa>gAa	p.G294E	CNDP1_uc002lls.3_Missense_Mutation_p.G97E	NM_032649	NP_116038	Q96KN2	CNDP1_HUMAN	Homo sapiens carnosine dipeptidase 1 (metallopeptidase M20 family) (CNDP1), mRNA.	294					proteolysis	extracellular region	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity	p.G294E(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)		BRCA - Breast invasive adenocarcinoma(31;0.109)		CTGGTCCCTGGAATCTATGAT	0.453000														48			37		0	0	1	0	0
PPM1A	5494	broad.mit.edu	37	14	60756575	60756575	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:60756575G>A	uc001xew.4	+	3	1319	c.1223G>A	c.(1222-1224)cGc>cAc	p.R408H	PPM1A_uc010apn.3_Missense_Mutation_p.R335H|PPM1A_uc001xey.4_Missense_Mutation_p.R335H	NM_177952	NP_808821	P35813	PPM1A_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1A (PPM1A), transcript variant 3, mRNA.	335					Wnt receptor signaling pathway|cell cycle arrest|insulin receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription, DNA-dependent|protein dephosphorylation	cytosol|nucleus|protein serine/threonine phosphatase complex	magnesium ion binding|manganese ion binding|protein serine/threonine phosphatase activity|signal transducer activity	p.R335H(1)		cervix(1)|endometrium(1)|large_intestine(8)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(108;0.046)		CATGTGATGCGCACATTAGCG	0.433000														17			5		0	0	1	0	0
C12orf56	115749	broad.mit.edu	37	12	64671501	64671501	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:64671501C>T	uc021qzu.1	-	8	1393	c.1393G>A	c.(1393-1395)Gtg>Atg	p.V465M	BC042855_uc001srx.3_Intron|C12orf56_uc001ssa.4_Missense_Mutation_p.V305M|C12orf56_uc001srz.3_Intron|C12orf56_uc001sry.3_Missense_Mutation_p.V47M	NM_001170633	NP_001164104	Q8IXR9	CL056_HUMAN	Homo sapiens chromosome 12 open reading frame 56 (C12orf56), transcript variant 1, mRNA.	468										NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)	15			GBM - Glioblastoma multiforme(3;0.000582)	GBM - Glioblastoma multiforme(28;0.0259)		GAATCAGCCACCAACTGGATA	0.368000														6			8		0	0	1	0	0
DNMT3A	1788	broad.mit.edu	37	2	25467441	25467441	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:25467441C>A	uc002rgc.3	-	13	1892	c.1635G>T	c.(1633-1635)gaG>gaT	p.E545D	DNMT3A_uc002rgd.3_Missense_Mutation_p.E545D|DNMT3A_uc010eyi.3_Non-coding_Transcript|DNMT3A_uc002rgb.3_Missense_Mutation_p.E356D	NM_022552	NP_783328	Q9Y6K1	DNM3A_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 3 alpha (DNMT3A), transcript variant 3, mRNA.	545	ADD.|Interaction with the PRC2/EED-EZH2 complex (By similarity).				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACATGAGCACCTCACGGCCCC	0.632000			"""Mis, F, N, S"""		AML									39			4		0.150653	0.152248	1	1	0
CDKL5	6792	broad.mit.edu	37	X	18622549	18622549	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:18622549C>A	uc004cym.3	+	11	1758	c.1505C>A	c.(1504-1506)tCt>tAt	p.S502Y	CDKL5_uc004cyn.3_Missense_Mutation_p.S502Y|CDKL5_uc022btn.1_Missense_Mutation_p.S493Y	NM_003159	NP_003150	O76039	CDKL5_HUMAN	Homo sapiens cyclin-dependent kinase-like 5 (CDKL5), transcript variant I, mRNA.	502					neuron migration|positive regulation of Rac GTPase activity|positive regulation of axon extension|positive regulation of dendrite morphogenesis|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|Rac GTPase binding|cyclin-dependent protein kinase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					AGCAACCTTTCTGAAGCCAGG	0.537000														130			15		1.3612e-06	1.54683e-06	1	1	0
ST3GAL1	6482	broad.mit.edu	37	8	134488066	134488066	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:134488066G>A	uc003yuk.2	-	4	1031	c.202C>T	c.(202-204)Cgc>Tgc	p.R68C	ST3GAL1_uc003yum.2_Missense_Mutation_p.R68C	NM_173344	NP_775479	Q11201	SIA4A_HUMAN	Homo sapiens ST3 beta-galactoside alpha-2,3-sialyltransferase 1 (ST3GAL1), transcript variant 2, mRNA.	68					protein glycosylation	Golgi cisterna membrane|extracellular region|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity			endometrium(3)|large_intestine(2)|lung(11)|prostate(1)	17	all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.00721)			GAGAGCTTGCGCTGCCCGATG	0.612000														12			11		0	0	1	0	0
PTPRCAP	5790	broad.mit.edu	37	11	67203585	67203585	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:67203585G>T	uc001oli.1	-	1	303	c.240C>A	c.(238-240)cgC>cgA	p.R80R		NM_005608	NP_005599	Q14761	PTCA_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, C-associated protein (PTPRCAP), mRNA.	80					defense response	integral to membrane|plasma membrane				skin(1)|upper_aerodigestive_tract(1)	2			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			CCCAGAGCAGGCGCCGCGTGC	0.711000														11			6		0.00116845	0.00123466	1	1	0
SPTBN2	6712	broad.mit.edu	37	11	66472098	66472098	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:66472098G>A	uc001ojd.3	-	13	2721	c.2649C>T	c.(2647-2649)cgC>cgT	p.R883R		NM_006946	NP_008877	O15020	SPTN2_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 2 (SPTBN2), mRNA.	883					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						GGTCCTCCAGGCGTTCAGGCA	0.687000														11			3		0	0	1	0	0
SESTD1	91404	broad.mit.edu	37	2	179982307	179982307	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179982307C>A	uc002uni.4	-	13	1626	c.1476G>T	c.(1474-1476)aaG>aaT	p.K492N	SESTD1_uc002unh.4_5'UTR	NM_178123	NP_835224	Q86VW0	SESD1_HUMAN	Homo sapiens SEC14 and spectrin domains 1 (SESTD1), mRNA.	492					regulation of calcium ion transport via voltage-gated calcium channel activity		phosphatidic acid binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding|protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3)	30			OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)			TCTGAAGCATCTTTAACCTTC	0.343000														72			41		1.86633e-21	2.41688e-21	1	1	0
FH	2271	broad.mit.edu	37	1	241667422	241667422	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:241667422C>T	uc001hyx.3	-	6	1091	c.1028G>A	c.(1027-1029)cGa>cAa	p.R343Q		NM_000143	NP_000134	P07954	FUMH_HUMAN	Homo sapiens fumarate hydratase (FH), nuclear gene encoding mitochondrial protein, mRNA.	343					fumarate metabolic process|tricarboxylic acid cycle	cell junction|mitochondrial matrix|tricarboxylic acid cycle enzyme complex	fumarate hydratase activity			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(2)	26	Ovarian(103;0.103)	all_cancers(173;2.37e-314)|all_epithelial(177;5.17e-286)|Breast(1374;1.06e-10)|Acute lymphoblastic leukemia(190;4.93e-10)|all_neural(198;0.00118)	OV - Ovarian serous cystadenocarcinoma(106;0.0214)	Colorectal(1306;2.33e-53)|COAD - Colon adenocarcinoma(196;1.05e-44)|KIRC - Kidney renal clear cell carcinoma(1967;0.000109)		ACCCAAAAATCGAATATCATT	0.448000			"""Mis, N, F"""			"""lieomyomatosis, renal"""			Hereditary Leiomyomatosis and Renal Cell Cancer					28			15		0	0	1	0	0
LIPK	643414	broad.mit.edu	37	10	90486579	90486579	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:90486579C>T	uc010qmv.2	+	1	133	c.133C>T	c.(133-135)Cct>Tct	p.P45S		NM_001080518	NP_001073987	Q5VXJ0	LIPK_HUMAN	Homo sapiens lipase, family member K (LIPK), mRNA.	45					lipid catabolic process	extracellular region	hydrolase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	12		Colorectal(252;0.0381)		Colorectal(12;7.03e-05)|COAD - Colon adenocarcinoma(12;8.33e-05)		CTGGGGTTATCCTTATGAAGA	0.328000														10			3		0	0	1	0	0
INTS6	26512	broad.mit.edu	37	13	52025168	52025168	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:52025168T>C	uc001vfk.3	-	2	946	c.332A>G	c.(331-333)tAt>tGt	p.Y111C	INTS6_uc001vfj.3_Missense_Mutation_p.Y98C|INTS6_uc001vfl.3_5'UTR|INTS6_uc001vfm.2_Missense_Mutation_p.Y111C|BC045725_uc001vfn.3_5'Flank	NM_012141	NP_001035026	Q9UL03	INT6_HUMAN	Homo sapiens integrator complex subunit 6 (INTS6), transcript variant 1, mRNA.	111	VWFA.				snRNA processing	actin cytoskeleton|integrator complex	protein binding|transmembrane receptor activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Breast(56;0.000286)|Lung NSC(96;0.00145)|Prostate(109;0.00403)|Hepatocellular(98;0.065)|Myeloproliferative disorder(33;0.163)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;7.7e-08)		TACCTGCCCATAGTTGTCTAT	0.353000														90			8		0	0	1	0	0
CLTA	1211	broad.mit.edu	37	9	36199092	36199092	+	Splice_Site	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:36199092T>C	uc003zzc.3	+	3	574	c.373_splice	c.e3+1	p.D125_splice	CLTA_uc022bgo.1_Splice_Site_p.D125_splice|CLTA_uc022bgp.1_Intron|CLTA_uc011lpk.2_Splice_Site_p.D125_splice|CLTA_uc003zzd.3_Splice_Site_p.D125_splice|CLTA_uc003zze.3_Splice_Site_p.D125_splice	NM_007096	NP_009027	P09496	CLCA_HUMAN	Homo sapiens clathrin, light chain A (CLTA), transcript variant 2, mRNA.	125	Involved in binding clathrin heavy chain.				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol	structural molecule activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(1)	6			STAD - Stomach adenocarcinoma(86;0.228)			TGGAAGCCCTTGGTAAGGAAT	0.423000														122			9		0	0	1	0	0
CAPZA3	93661	broad.mit.edu	37	12	18891391	18891391	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:18891391C>A	uc001rdy.3	+	0	347	c.189C>A	c.(187-189)ctC>ctA	p.L63L	PLCZ1_uc001rdv.4_5'Flank|PLCZ1_uc001rdw.4_5'Flank|PLCZ1_uc021qvx.1_5'Flank	NM_033328	NP_201585	Q96KX2	CAZA3_HUMAN	Homo sapiens capping protein (actin filament) muscle Z-line, alpha 3 (CAPZA3), mRNA.	63					actin cytoskeleton organization|actin filament capping	F-actin capping protein complex	actin binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				CTGTACCACTCTGCATCGATG	0.433000														47			19		5.35267e-07	6.12308e-07	1	1	0
SPZ1	84654	broad.mit.edu	37	5	79617030	79617030	+	RNA	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:79617030G>A	uc011ctk.1	-	0		c.629C>T			SPZ1_uc003kgn.3_Silent_p.Q332Q			Q9BXG8	SPZ1_HUMAN	Homo sapiens cDNA FLJ25709 fis, clone TST04944.						regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2)	26		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)		AAATCTTACAGCAGAGAGTAG	0.418000														51			43		0	0	1	0	0
STAG3	10734	broad.mit.edu	37	7	99794891	99794891	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:99794891C>A	uc003utx.1	+	9	1209	c.1054C>A	c.(1054-1056)Ctg>Atg	p.L352M	STAG3_uc010lgs.1_Missense_Mutation_p.L140M|STAG3_uc011kjk.1_Missense_Mutation_p.L294M	NM_012447	NP_036579	Q9UJ98	STAG3_HUMAN	Homo sapiens stromal antigen 3 (STAG3), mRNA.	352	SCD.				chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TGGTTGGACTCTGCATGATAA	0.453000														351			16		1.99824e-07	2.30332e-07	1	1	0
ZNF628	89887	broad.mit.edu	37	19	55994999	55994999	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:55994999G>A	uc021vbv.1	+	0	2427	c.2427G>A	c.(2425-2427)caG>caA	p.Q809Q	ZNF628_uc002qld.2_Silent_p.Q809Q|NAT14_uc002qle.2_5'Flank	NM_033113	NP_149104	Q5EBL2	ZN628_HUMAN	Homo sapiens zinc finger protein 628 (ZNF628), mRNA.	809						nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|lung(2)	7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)		CAGGGCCACAGGAAATGAGTG	0.682000														61			6		0	0	1	0	0
NEUROG2	63973	broad.mit.edu	37	4	113435853	113435853	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:113435853C>T	uc003ias.3	-	1	1106	c.779G>A	c.(778-780)cGc>cAc	p.R260H	NEUROG2_uc021xqu.1_Missense_Mutation_p.R260H	NM_024019	NP_076924	Q9H2A3	NGN2_HUMAN	Homo sapiens neurogenin 2 (NEUROG2), mRNA.	260					positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent	nucleus	E-box binding			central_nervous_system(1)|large_intestine(3)|lung(6)|skin(2)	12		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.00168)		AGGTGCATAGCGGTGCTTGTC	0.607000														15			5		0	0	1	0	0
ABCA3	21	broad.mit.edu	37	16	2333211	2333211	+	Silent	SNP	G	A	A	rs144957382		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:2333211G>A	uc002cpy.1	-	25	4723	c.4011C>T	c.(4009-4011)tgC>tgT	p.C1337C	ABCA3_uc010bsk.1_Silent_p.C1279C	NM_001089	NP_001080	Q99758	ABCA3_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 3 (ABCA3), mRNA.	1337					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				TCCGGAGGGCGCAGAGGATGC	0.662000														17			16		0	0	1	0	0
URGCP	55665	broad.mit.edu	37	7	43917062	43917062	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:43917062G>A	uc003tiw.3	-	5	2057	c.2000C>T	c.(1999-2001)aCg>aTg	p.T667M	URGCP_uc022acg.1_Intron|URGCP_uc003tiu.3_Missense_Mutation_p.T624M|URGCP_uc003tiv.3_Missense_Mutation_p.T592M|URGCP_uc003tix.3_Missense_Mutation_p.T658M|URGCP_uc003tiy.3_Missense_Mutation_p.T624M|URGCP_uc003tiz.3_Missense_Mutation_p.T624M|URGCP_uc011kbj.2_Missense_Mutation_p.T624M	NM_001077663	NP_001071131	Q8TCY9	URGCP_HUMAN	Homo sapiens upregulator of cell proliferation (URGCP), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	667					cell cycle	centrosome|nucleus	GTP binding			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CATGCTCAGCGTGCTCCCATC	0.657000														14			27		0	0	1	0	0
OR51G2	81282	broad.mit.edu	37	11	4936683	4936683	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:4936683G>T	uc001lzr.1	-	0	211	c.211C>A	c.(211-213)Ctg>Atg	p.L71M		NM_001005238	NP_001005238	Q8NGK0	O51G2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily G, member 2 (OR51G2), mRNA.	71					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATCAGAGCCAGCATGGACAGG	0.478000														32			12		2.80697e-09	3.3309e-09	1	1	0
ZNF142	7701	broad.mit.edu	37	2	219521095	219521095	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:219521095G>T	uc002vin.3	-	3	494	c.58C>A	c.(58-60)Ctg>Atg	p.L20M	ZNF142_uc002vil.3_5'UTR|ZNF142_uc010fvt.3_5'UTR|ZNF142_uc002vim.3_5'UTR	NM_001105537	NP_001099007	P52746	ZN142_HUMAN	Homo sapiens zinc finger protein 142 (ZNF142), mRNA.	20					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		TCAGGGCACAGTCCATCCATC	0.582000														33			7		0.0293803	0.0299714	1	1	0
ADAMTS3	9508	broad.mit.edu	37	4	73149302	73149302	+	Silent	SNP	G	A	A	rs113342288		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:73149302G>A	uc003hgk.2	-	21	3206	c.3169C>T	c.(3169-3171)Ctg>Ttg	p.L1057L		NM_014243	NP_055058	O15072	ATS3_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 3 (ADAMTS3), mRNA.	1057					collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding	p.T1056I(2)		NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GGTGGTGGCAGGGTGCTACTG	0.463000														116			7		0	0	1	0	0
PAFAH1B1	5048	broad.mit.edu	37	17	2579889	2579889	+	Missense_Mutation	SNP	C	A	A	rs138622703		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:2579889C>A	uc002fuw.4	+	8	1559	c.991C>A	c.(991-993)Ctt>Att	p.L331I	PAFAH1B1_uc010ckb.2_Intron|PAFAH1B1_uc010vqz.2_Intron	NM_000430	NP_000421	P43034	LIS1_HUMAN	Homo sapiens platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa) (PAFAH1B1), mRNA.	331	Interaction with dynein and dynactin.				G2/M transition of mitotic cell cycle|acrosome assembly|actin cytoskeleton organization|adult locomotory behavior|brain morphogenesis|corpus callosum morphogenesis|establishment of mitotic spindle orientation|hippocampus development|layer formation in cerebral cortex|learning or memory|lipid catabolic process|microtubule organizing center organization|mitotic prometaphase|neuroblast proliferation|neuromuscular process controlling balance|neuron migration|platelet activating factor metabolic process|regulation of Rho GTPase activity|retrograde axon cargo transport|synaptic transmission|vesicle transport along microtubule	astral microtubule|cell cortex|centrosome|cytosol|kinetochore|motile primary cilium|nuclear membrane|perinuclear region of cytoplasm	dynactin binding|heparin binding|microtubule binding|phospholipase binding|phosphoprotein binding|protein homodimerization activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|skin(1)	11						TGGCATGTGCCTTATGACCCT	0.363000														71			7		0.00198382	0.00208369	1	1	0
NFATC1	4772	broad.mit.edu	37	18	77211710	77211710	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:77211710G>T	uc010xfg.2	+	5	2250	c.1797G>T	c.(1795-1797)gaG>gaT	p.E599D	NFATC1_uc002lnc.1_Missense_Mutation_p.E599D|NFATC1_uc010xff.1_Missense_Mutation_p.R571I|NFATC1_uc002lnd.3_Missense_Mutation_p.E599D|NFATC1_uc002lne.3_Missense_Mutation_p.E127D|NFATC1_uc010xfh.2_Missense_Mutation_p.E599D|NFATC1_uc010xfi.1_Missense_Mutation_p.E586D|NFATC1_uc010xfj.2_Missense_Mutation_p.E127D|NFATC1_uc002lnf.3_Missense_Mutation_p.E586D|NFATC1_uc002lng.3_Missense_Mutation_p.E586D|NFATC1_uc010xfk.2_Missense_Mutation_p.E586D	NM_006162	NP_006153	O95644	NFAC1_HUMAN	Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1 (NFATC1), transcript variant 2, mRNA.	599					intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)		CTCTGGTGGAGAAGCAGAGCA	0.622000														38			4		0.00909568	0.00940365	1	1	0
TEX14	56155	broad.mit.edu	37	17	56635179	56635179	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:56635179C>A	uc010dcz.2	-	31	4556	c.4438G>T	c.(4438-4440)Ggt>Tgt	p.G1480C	TEX14_uc002iwr.2_Missense_Mutation_p.G1474C|TEX14_uc002iws.2_Missense_Mutation_p.G1434C|TEX14_uc010dda.2_Missense_Mutation_p.G1214C	NM_001201457	NP_001188386	Q8IWB6	TEX14_HUMAN	Homo sapiens testis expressed 14 (TEX14), transcript variant 3, mRNA.	1480						cytoplasm	ATP binding|protein kinase activity			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TCGGACCAACCTAGTCGCTTC	0.348000														79			37		5.20837e-25	6.81046e-25	1	1	0
ERICH1	157697	broad.mit.edu	37	8	618675	618675	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:618675G>A	uc003wph.3	-	4	1246	c.1181C>T	c.(1180-1182)aCg>aTg	p.T394M	ERICH1_uc003wpi.3_Missense_Mutation_p.T206M	NM_207332	NP_997215	Q86X53	ERIC1_HUMAN	Homo sapiens glutamate-rich 1 (ERICH1), mRNA.	394										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)	20		Colorectal(14;0.158)|Ovarian(12;0.17)|Myeloproliferative disorder(644;0.185)|Hepatocellular(245;0.236)		Epithelial(5;3.29e-14)|BRCA - Breast invasive adenocarcinoma(11;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(5;3.65e-06)|READ - Rectum adenocarcinoma(1;0.0325)		GAGCAGCAGCGTTTTCATGTG	0.537000														39			24		0	0	1	0	0
PUF60	22827	broad.mit.edu	37	8	144898851	144898851	+	Nonsense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:144898851C>A	uc003yzs.3	-	11	1583	c.1519G>T	c.(1519-1521)Gag>Tag	p.E507*	SCRIB_uc003yzo.1_5'Flank|SCRIB_uc003yzp.1_5'Flank|PUF60_uc003yzq.3_Nonsense_Mutation_p.E464*|PUF60_uc003yzr.3_Nonsense_Mutation_p.E447*|PUF60_uc003yzt.3_Nonsense_Mutation_p.E490*	NM_078480	NP_510965	Q9UHX1	PUF60_HUMAN	Homo sapiens poly-U binding splicing factor 60KDa (PUF60), transcript variant 1, mRNA.	507	Inhibits homodimerization.|Inhibits transcriptional repression, interaction with ERCC3 and apoptosis induction.|RRM 3; atypical.				RNA splicing|apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ribonucleoprotein complex	DNA binding|RNA binding|nucleotide binding|protein binding			NS(1)|endometrium(1)|kidney(3)|lung(7)|prostate(2)	14	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			TCTGCATCCTCCTCCTCGCCT	0.542000														162			47		3.39706e-21	4.39452e-21	1	1	0
FAT3	120114	broad.mit.edu	37	11	92577645	92577645	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:92577645G>A	uc001pdj.4	+	17	11129	c.11112G>A	c.(11110-11112)gcG>gcA	p.A3704A	FAT3_uc001pdi.4_Silent_p.A144A	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	3704					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)				TGCTGTTTGCGGTGGAGATGC	0.567000										TCGA Ovarian(4;0.039)				15			9		0	0	1	0	0
KIAA1217	56243	broad.mit.edu	37	10	24762394	24762394	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:24762394C>A	uc001iru.4	+	5	1487	c.1084C>A	c.(1084-1086)Cca>Aca	p.P362T	KIAA1217_uc001irs.3_Missense_Mutation_p.P282T|KIAA1217_uc001irt.4_Missense_Mutation_p.P362T|KIAA1217_uc010qcy.2_Missense_Mutation_p.P362T|KIAA1217_uc010qcz.2_Missense_Mutation_p.P362T|KIAA1217_uc001irv.1_Missense_Mutation_p.P212T|KIAA1217_uc010qda.1_Non-coding_Transcript|KIAA1217_uc001irw.3_Missense_Mutation_p.P80T|KIAA1217_uc001irz.3_Missense_Mutation_p.P80T|KIAA1217_uc001irx.3_Missense_Mutation_p.P80T|KIAA1217_uc001iry.3_Missense_Mutation_p.P80T	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	362	Pro-rich.				embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						ACCCATCTCTCCAAGCCCAAG	0.502000														66			41		8.01111e-26	1.04961e-25	1	1	0
CDH11	1009	broad.mit.edu	37	16	65032517	65032517	+	Silent	SNP	C	T	T	rs138088413	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:65032517C>T	uc002eoi.3	-	3	905	c.471G>A	c.(469-471)ccG>ccA	p.P157P	CDH11_uc010cdn.3_Non-coding_Transcript|CDH11_uc002eoj.3_Silent_p.P157P|CDH11_uc010vin.2_Silent_p.P31P|CDH11_uc010vio.1_Silent_p.P157P	NM_001797	NP_001788	P55287	CAD11_HUMAN	Homo sapiens cadherin 11, type 2, OB-cadherin (osteoblast) (CDH11), mRNA.	157	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding	p.P157P(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		GCAGGAACTCCGGAGGGTTGT	0.582000			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)				63			36		0	0	1	0	0
SYNPO2L	79933	broad.mit.edu	37	10	75406793	75406793	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:75406793G>A	uc001jut.4	-	3	2769	c.2617C>T	c.(2617-2619)Cct>Tct	p.P873S	SYNPO2L_uc001jus.4_Missense_Mutation_p.P649S	NM_001114133	NP_001107605	Q9H987	SYP2L_HUMAN	Homo sapiens synaptopodin 2-like (SYNPO2L), transcript variant 1, mRNA.	873	Pro-rich.					cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Prostate(51;0.0112)					GAGGCGATAGGGCCAGGAGTC	0.572000														143			11		0	0	1	0	0
ZNF24	7572	broad.mit.edu	37	18	32919925	32919925	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:32919925G>A	uc002kyt.2	-	2	593	c.436C>T	c.(436-438)Cga>Tga	p.R146*	ZNF24_uc002kys.2_Nonsense_Mutation_p.R146*|ZNF24_uc002kyu.1_Nonsense_Mutation_p.R146*	NM_006965	NP_008896	P17028	ZNF24_HUMAN	Homo sapiens zinc finger protein 24 (ZNF24), mRNA.	146					myelination|negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	15						TCCCGTTTTCGTCGACGGAGA	0.428000														41			33		0	0	1	0	0
TUBGCP5	114791	broad.mit.edu	37	15	22848930	22848930	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:22848930G>A	uc001yuq.2	+	9	1107	c.977G>A	c.(976-978)cGa>cAa	p.R326Q	TUBGCP5_uc001yur.4_Missense_Mutation_p.R326Q|TUBGCP5_uc010axz.1_5'UTR	NM_001102610	NP_001096080	Q96RT8	GCP5_HUMAN	Homo sapiens tubulin, gamma complex associated protein 5 (TUBGCP5), transcript variant 2, mRNA.	326					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)		GTTGTGTTTCGACTCCAGGAG	0.453000														67			34		0	0	1	0	0
BDP1	55814	broad.mit.edu	37	5	70837939	70837939	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:70837939A>C	uc003kbp.1	+	29	6522	c.6259A>C	c.(6259-6261)Att>Ctt	p.I2087L	BDP1_uc003kbo.3_Missense_Mutation_p.I2087L|BDP1_uc003kbq.1_Non-coding_Transcript|BDP1_uc003kbr.1_Non-coding_Transcript	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN	Homo sapiens B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB (BDP1), mRNA.	2087					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		TAGGAATACAATTTCTAAAGT	0.358000														17			9		0	0	1	0	0
USP14	9097	broad.mit.edu	37	18	197620	197620	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:197620C>T	uc002kkf.1	+	7	815	c.599C>T	c.(598-600)gCt>gTt	p.A200V	USP14_uc002kkg.1_Missense_Mutation_p.A165V|USP14_uc010wyr.1_Missense_Mutation_p.A189V	NM_005151	NP_005142	P54578	UBP14_HUMAN	Homo sapiens ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase) (USP14), transcript variant 1, mRNA.	200					regulation of chemotaxis|regulation of proteasomal protein catabolic process|ubiquitin-dependent protein catabolic process	cell surface|cytoplasmic membrane-bounded vesicle|plasma membrane|proteasome complex	cysteine-type endopeptidase activity|endopeptidase inhibitor activity|proteasome binding|tRNA guanylyltransferase activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(2)	11		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				TTACAGGATGCTAATGAATGT	0.333000														40			14		0	0	1	0	0
SPEN	23013	broad.mit.edu	37	1	16235929	16235929	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:16235929G>A	uc001axk.1	+	3	1199	c.995G>A	c.(994-996)cGt>cAt	p.R332H	SPEN_uc010obp.1_Missense_Mutation_p.R291H	NM_015001	NP_055816	Q96T58	MINT_HUMAN	Homo sapiens spen homolog, transcriptional regulator (Drosophila) (SPEN), mRNA.	332					Notch signaling pathway|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding|protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GATGAGCCCCGTAAAAGTTTT	0.458000														83			41		0	0	1	0	0
ZNF100	163227	broad.mit.edu	37	19	21910280	21910280	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:21910280T>C	uc002nqi.3	-	4	1033	c.834A>G	c.(832-834)acA>acG	p.T278T	ZNF100_uc002nqh.3_Silent_p.T214T	NM_173531	NP_775802	Q8IYN0	ZN100_HUMAN	Homo sapiens zinc finger protein 100 (ZNF100), mRNA.	278					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	21						TTATCTTATGTGTAGTAAGGT	0.388000														30			14		0	0	1	0	0
C2orf18	54978	broad.mit.edu	37	2	27001097	27001097	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:27001097C>T	uc002rhp.1	+	5	910	c.834C>T	c.(832-834)ttC>ttT	p.F278F	C2orf18_uc002rhq.1_Silent_p.F195F|C2orf18_uc010eyo.1_Silent_p.F225F|C2orf18_uc010ylc.1_Silent_p.F131F	NM_017877	NP_060347	Q8N357	CB018_HUMAN	Homo sapiens chromosome 2 open reading frame 18 (C2orf18), mRNA.	278						integral to membrane|lysosomal membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCTTCAACTTCGCAGGCATCA	0.612000														31			22		0	0	1	0	0
DGKK	139189	broad.mit.edu	37	X	50125503	50125503	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:50125503C>A	uc010njr.2	-	17	2692	c.2648G>T	c.(2647-2649)gGg>gTg	p.G883V		NM_001013742	NP_001013764	Q5KSL6	DGKK_HUMAN	Homo sapiens diacylglycerol kinase, kappa (DGKK), mRNA.	883					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					CTTGTATTGCCCTGGGTGTTC	0.408000														50			6		0.00116845	0.00123466	1	1	0
AHDC1	27245	broad.mit.edu	37	1	27876321	27876321	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:27876321G>A	uc021ojw.1	-	0	2306	c.2306C>T	c.(2305-2307)gCc>gTc	p.A769V	AHDC1_uc009vsy.3_Missense_Mutation_p.A769V|AHDC1_uc009vsz.1_Missense_Mutation_p.A769V	NM_001029882	NP_001025053	Q5TGY3	AHDC1_HUMAN	Homo sapiens AT hook, DNA binding motif, containing 1 (AHDC1), mRNA.	769	Gly-rich.						DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		CTTATCCCCGGCCCACTCAGC	0.667000														51			7		0	0	1	0	0
CCT7	10574	broad.mit.edu	37	2	73470241	73470241	+	Missense_Mutation	SNP	G	A	A	rs11544996		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:73470241G>A	uc002siz.3	+	3	520	c.377G>A	c.(376-378)cGc>cAc	p.R126H	CCT7_uc010yrf.2_Missense_Mutation_p.R82H|CCT7_uc010yrh.2_Missense_Mutation_p.A16T|CCT7_uc010yrg.2_Missense_Mutation_p.R26H|CCT7_uc010yri.2_Missense_Mutation_p.R39H|CCT7_uc002sja.3_Intron	NM_006429	NP_001159757	Q99832	TCPH_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 7 (eta) (CCT7), transcript variant 1, mRNA.	126					'de novo' posttranslational protein folding		ATP binding|unfolded protein binding			breast(1)|cervix(1)|endometrium(1)|lung(3)|stomach(1)	7						CGAGCTTTCCGCACAGCCACC	0.512000														46			34		0	0	1	0	0
WWOX	51741	broad.mit.edu	37	16	78458769	78458769	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:78458769C>A	uc002ffk.3	+	6	957	c.608C>A	c.(607-609)cCt>cAt	p.P203H	WWOX_uc002ffl.3_Intron|WWOX_uc010che.3_Intron|WWOX_uc010vnk.2_Missense_Mutation_p.P90H	NM_016373	NP_057457	Q9NZC7	WWOX_HUMAN	Homo sapiens WW domain containing oxidoreductase (WWOX), transcript variant 1, mRNA.	203	Interaction with MAPT (By similarity).				Wnt receptor signaling pathway|apoptosis|negative regulation of Wnt receptor signaling pathway|steroid metabolic process	Golgi apparatus|mitochondrion|nucleus	coenzyme binding|oxidoreductase activity|protein dimerization activity			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	7		all_cancers(2;1.97e-181)|all_epithelial(2;3.85e-160)|all_lung(2;2.03e-39)|Lung NSC(2;7.16e-35)|Colorectal(2;6.96e-21)|all_hematologic(2;1.13e-16)|Melanoma(2;5.16e-06)|all_neural(2;8.84e-06)|Renal(2;5.26e-05)|Medulloblastoma(2;0.00498)|Breast(2;0.00631)|Lung SC(2;0.0261)|Prostate(104;0.167)		UCEC - Uterine corpus endometrioid carcinoma (2;0.012)|Epithelial(1;2.65e-39)|all cancers(1;3.26e-34)|STAD - Stomach adenocarcinoma(1;5.1e-20)|COAD - Colon adenocarcinoma(1;1.04e-11)|Colorectal(1;3.4e-11)|OV - Ovarian serous cystadenocarcinoma(1;1.01e-10)|BRCA - Breast invasive adenocarcinoma(1;0.00196)|Kidney(780;0.232)		TTTTTCAGGCCTCTTCATGTG	0.463000														496			21		1.22574e-08	1.44238e-08	1	1	0
MC4R	4160	broad.mit.edu	37	18	58039275	58039275	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:58039275A>G	uc002lie.1	-	0	727	c.308T>C	c.(307-309)gTc>gCc	p.V103A		NM_005912	NP_005903	P32245	MC4R_HUMAN	Homo sapiens melanocortin 4 receptor (MC4R), mRNA.	103			V -> I (in dbSNP:rs2229616).		G-protein signaling, coupled to cAMP nucleotide second messenger|feeding behavior|positive regulation of bone resorption|positive regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|ubiquitin protein ligase binding			endometrium(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	17		Colorectal(73;0.0946)				TAGGGTGATGACAATGGTTTC	0.433000														55			33		0	0	1	0	0
NUP155	9631	broad.mit.edu	37	5	37294509	37294509	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:37294509G>A	uc003jku.1	-	32	3970	c.3852C>T	c.(3850-3852)ttC>ttT	p.F1284F	NUP155_uc003jkt.1_Silent_p.F1225F|NUP155_uc010iuz.1_Silent_p.F1220F	NM_153485	NP_004289	O75694	NU155_HUMAN	Homo sapiens nucleoporin 155kDa (NUP155), transcript variant 1, mRNA.	1284					carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TCTGTATTACGAAGCCCACAT	0.333000														21			13		0	0	1	0	0
ADCY1	107	broad.mit.edu	37	7	45719377	45719377	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:45719377C>T	uc003tne.4	+	10	1986	c.1968C>T	c.(1966-1968)caC>caT	p.H656H		NM_021116	NP_066939	Q08828	ADCY1_HUMAN	Homo sapiens adenylate cyclase 1 (brain) (ADCY1), mRNA.	656					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	TGTACCTGCACATCACCCGGG	0.542000														36			45		0	0	1	0	0
MAP3K1	4214	broad.mit.edu	37	5	56160646	56160646	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:56160646G>A	uc003jqw.4	+	3	1421	c.920G>A	c.(919-921)cGt>cAt	p.R307H		NM_005921	NP_005912	Q13233	M3K1_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 1 (MAP3K1), mRNA.	307					MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|cellular response to mechanical stimulus|innate immune response|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		ACAAACCGCCGTGTTAACAAA	0.498000														42			8		0	0	1	0	0
ZNF701	55762	broad.mit.edu	37	19	53085781	53085781	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:53085781G>A	uc010ydn.2	+	4	730	c.667G>A	c.(667-669)Gaa>Aaa	p.E223K	ZNF701_uc002pzs.2_Missense_Mutation_p.E157K|ZNF701_uc021uyw.1_Missense_Mutation_p.E223K	NM_018260	NP_060730	Q9NV72	ZN701_HUMAN	Homo sapiens zinc finger protein 701 (ZNF701), transcript variant 2, mRNA.	157					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E157K(1)		endometrium(5)|kidney(1)|large_intestine(2)|lung(6)	14				OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)		ATTTCACCCCGAAGGGAAAAT	0.413000														57			46		0	0	1	0	0
MAGEH1	28986	broad.mit.edu	37	X	55478845	55478845	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:55478845C>T	uc004dum.3	+	0	308	c.38C>T	c.(37-39)gCg>gTg	p.A13V		NM_014061	NP_054780	Q9H213	MAGH1_HUMAN	Homo sapiens melanoma antigen family H, 1 (MAGEH1), mRNA.	13	MAGE.				apoptosis			p.A13A(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|skin(2)	15						CGCCGTAATGCGAGAGCCGCA	0.597000														4			4		0	0	1	0	0
CHAF1A	10036	broad.mit.edu	37	19	4418033	4418033	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:4418033T>C	uc002mal.3	+	3	1077	c.977T>C	c.(976-978)gTc>gCc	p.V326A		NM_005483	NP_005474	Q13111	CAF1A_HUMAN	Homo sapiens chromatin assembly factor 1, subunit A (p150) (CHAF1A), mRNA.	326	Arg/Glu/Lys-rich.				DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|cell cycle|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		AAGAAATTCGTCAAAGGCTCT	0.348000								Chromatin Structure						65			4		0	0	1	0	0
TPR	7175	broad.mit.edu	37	1	186329453	186329453	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:186329453A>G	uc001grv.3	-	10	1440	c.1143T>C	c.(1141-1143)acT>acC	p.T381T	MIR548F1_uc021pgf.1_Intron|TPR_uc010pop.2_Silent_p.T457T	NM_003292	NP_003283	P12270	TPR_HUMAN	Homo sapiens translocated promoter region (to activated MET oncogene) (TPR), mRNA.	381					carbohydrate metabolic process|glucose transport|mRNA transport|mitotic cell cycle spindle assembly checkpoint|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		CAGCTGCTGCAGTAGGAGACA	0.368000			T	NTRK1	papillary thyroid									55			4		0	0	1	0	0
NOS1AP	9722	broad.mit.edu	37	1	162337149	162337149	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:162337149C>T	uc001gbv.2	+	9	1800	c.1413C>T	c.(1411-1413)gaC>gaT	p.D471D	NOS1AP_uc001gbw.2_Silent_p.D466D|NOS1AP_uc010pks.1_Non-coding_Transcript|NOS1AP_uc009wut.1_Silent_p.D176D	NM_014697	NP_055512	O75052	CAPON_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) adaptor protein (NOS1AP), transcript variant 1, mRNA.	471					regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		PDZ domain binding|nitric-oxide synthase binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			CCAACACGGACGAGAGCGAGG	0.667000														7			4		0	0	1	0	0
HOXD1	3231	broad.mit.edu	37	2	177054165	177054165	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:177054165G>A	uc002ukv.4	+	0	859	c.636G>A	c.(634-636)agG>agA	p.R212R	HOXD-AS1_uc021vsq.1_5'Flank|HOXD1_uc010fqy.3_Silent_p.R212R|HOXD1_uc021vsr.1_Silent_p.R212R	NM_024501	NP_078777	Q9GZZ0	HXD1_HUMAN	Homo sapiens homeobox D1 (HOXD1), mRNA.	212						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.0226)		AAGTGAAGAGGAATGCCTCTA	0.662000														14			4		0	0	1	0	0
PARK2	5071	broad.mit.edu	37	6	161771219	161771219	+	Missense_Mutation	SNP	G	A	A	rs149953814	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:161771219G>A	uc021zhu.1	-	12	1542	c.1451C>T	c.(1450-1452)cCg>cTg	p.P484L	PARK2_uc003qtv.4_Non-coding_Transcript|PARK2_uc003qtw.4_3'UTR|PARK2_uc010kkd.3_Missense_Mutation_p.P246L|PARK2_uc003qtx.4_Missense_Mutation_p.P437L|PARK2_uc021zhs.1_Missense_Mutation_p.P359L|PARK2_uc021zht.1_Non-coding_Transcript|PARK2_uc003qty.4_Missense_Mutation_p.P409L|PARK2_uc003qtz.4_Missense_Mutation_p.P288L|PARK2_uc021zhv.1_Missense_Mutation_p.P358L|PARK2_uc021zhw.1_Missense_Mutation_p.P246L|PARK2_uc021zhx.1_Non-coding_Transcript|PARK2_uc021zhy.1_Missense_Mutation_p.P387L|PARK2_uc011egf.2_Missense_Mutation_p.P111L	NM_004562	NP_004553	O60260	PRKN2_HUMAN	Homo sapiens parkinson protein 2, E3 ubiquitin protein ligase (parkin) (PARK2), transcript variant 1, mRNA.	437					aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein autoubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process	Golgi apparatus|aggresome|cytosol|endoplasmic reticulum|mitochondrion|nucleus|perinuclear region of cytoplasm	PDZ domain binding|chaperone binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		CTGGGGCTGCGGACACTTCAT	0.612000														7			10		0	0	1	0	0
ELMOD1	55531	broad.mit.edu	37	11	107526696	107526696	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:107526696C>A	uc010rvs.2	+	10	1140	c.736C>A	c.(736-738)Ctg>Atg	p.L246M	ELMOD1_uc001pjm.3_Missense_Mutation_p.L238M|ELMOD1_uc010rvt.2_Missense_Mutation_p.L240M	NM_018712	NP_061182	Q8N336	ELMD1_HUMAN	Homo sapiens ELMO/CED-12 domain containing 1 (ELMOD1), transcript variant 1, mRNA.	246	ELMO.				phagocytosis	cytoskeleton	GTPase activator activity			endometrium(2)|large_intestine(5)|liver(2)|lung(7)|pancreas(2)|prostate(1)	19		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00304)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Epithelial(105;0.00027)|all cancers(92;0.00481)		TATAACTGACCTGGCATATAA	0.378000														6			6		0.217242	0.21859	1	1	0
BCL2L11	10018	broad.mit.edu	37	2	111907698	111907698	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:111907698G>A	uc002tgv.1	+	2	760	c.472G>A	c.(472-474)Gag>Aag	p.E158K	BCL2L11_uc002tgu.1_Missense_Mutation_p.E98K|BCL2L11_uc002tgy.2_Intron|BCL2L11_uc002thb.2_Missense_Mutation_p.E98K|BCL2L11_uc002tgx.2_Missense_Mutation_p.E68K|BCL2L11_uc021vmp.1_Intron|BCL2L11_uc010fkd.2_3'UTR|BCL2L11_uc002tgz.2_Missense_Mutation_p.E68K|BCL2L11_uc002thd.2_Intron|BCL2L11_uc002tha.2_Intron|BCL2L11_uc010fke.2_Intron|BCL2L11_uc021vmq.1_Missense_Mutation_p.E158K|BCL2L11_uc002thc.2_Missense_Mutation_p.E68K|BCL2L11_uc021vmr.1_3'UTR|BCL2L11_uc002tgw.2_Missense_Mutation_p.E68K|BCL2L11_uc021vms.1_Missense_Mutation_p.E158K	NM_138621	NP_619527	O43521	B2L11_HUMAN	Homo sapiens BCL2-like 11 (apoptosis facilitator) (BCL2L11), transcript variant 1, mRNA.	158					activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria	cytosol|endomembrane system|mitochondrial outer membrane|plasma membrane	protein binding			endometrium(4)|large_intestine(3)|lung(2)|prostate(2)	11						TATTGGAGACGAGTTTAACGC	0.453000														32			3		0	0	1	0	0
ERCC6L	54821	broad.mit.edu	37	X	71426140	71426140	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:71426140G>A	uc004eaq.1	-	1	2574	c.2477C>T	c.(2476-2478)aCt>aTt	p.T826I	PIN4_uc004eao.2_Intron|ERCC6L_uc004eap.1_Missense_Mutation_p.T703I	NM_017669	NP_060139	Q2NKX8	ERC6L_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 6-like (ERCC6L), mRNA.	826					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol	ATP binding|DNA binding|helicase activity|protein binding			breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38	Renal(35;0.156)					TGAAGAGTTAGTACAAAGTTC	0.408000														68			6		0	0	1	0	0
KCNK1	3775	broad.mit.edu	37	1	233802625	233802625	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:233802625G>A	uc010pxo.1	+	1	808	c.640G>A	c.(640-642)Gaa>Aaa	p.E214K		NM_002245	NP_002236	O00180	KCNK1_HUMAN	Homo sapiens potassium channel, subfamily K, member 1 (KCNK1), mRNA.	214						voltage-gated potassium channel complex	inward rectifier potassium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	11		all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175)			Ibutilide(DB00308)|Quinidine(DB00908)	GAACTTCCTGGAATCCTTTTA	0.483000														69			28		0	0	1	0	0
C12orf12	196477	broad.mit.edu	37	12	91347989	91347989	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:91347989C>A	uc001tbj.3	-	0	965	c.531G>T	c.(529-531)gaG>gaT	p.E177D		NM_152638	NP_689851	Q8TC90	CL012_HUMAN	Homo sapiens chromosome 12 open reading frame 12 (C12orf12), mRNA.	177										NS(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	27						GCTCTCTCCACTCATACAGCT	0.667000														26			25		2.41591e-17	3.07667e-17	1	1	0
SLC28A1	9154	broad.mit.edu	37	15	85478633	85478633	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:85478633C>A	uc002blg.3	+	14	1667	c.1465C>A	c.(1465-1467)Ctg>Atg	p.L489M	SLC28A1_uc010bnb.3_Missense_Mutation_p.L489M|SLC28A1_uc010upe.2_Intron|SLC28A1_uc010upf.1_Missense_Mutation_p.L489M|SLC28A1_uc010upg.1_Missense_Mutation_p.L489M	NM_004213	NP_004204	O00337	S28A1_HUMAN	Homo sapiens solute carrier family 28 (sodium-coupled nucleoside transporter), member 1 (SLC28A1), transcript variant 1, mRNA.	489					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)			AGCTGAGCTGCTGGGGATCAA	0.597000														50			26		4.72057e-08	5.50067e-08	1	1	0
LRP1B	53353	broad.mit.edu	37	2	141232864	141232864	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:141232864G>A	uc002tvj.1	-	59	10440	c.9468C>T	c.(9466-9468)ggC>ggT	p.G3156G		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	3156					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTCCAACACGGCCAATATGAG	0.368000										TSP Lung(27;0.18)				37			28		0	0	1	0	0
OR13G1	441933	broad.mit.edu	37	1	247836181	247836181	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:247836181G>A	uc001idi.1	-	0	163	c.163C>T	c.(163-165)Ccc>Tcc	p.P55S		NM_001005487	NP_001005487	Q8NGZ3	O13G1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily G, member 1 (OR13G1), mRNA.	55					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T54M(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			ACATACATGGGCGTATGCAAG	0.423000														19			26		0	0	1	0	0
DUS3L	56931	broad.mit.edu	37	19	5788144	5788144	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:5788144G>A	uc002mdc.3	-	4	1083	c.986C>T	c.(985-987)gCg>gTg	p.A329V	DUS3L_uc002mdd.3_Missense_Mutation_p.A87V|DUS3L_uc010xiw.1_Non-coding_Transcript	NM_020175	NP_064560	Q96G46	DUS3L_HUMAN	Homo sapiens dihydrouridine synthase 3-like (S. cerevisiae) (DUS3L), transcript variant 1, mRNA.	329					tRNA processing		flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						TGTCACATCCGCCCCGAAGCG	0.607000														23			14		0	0	1	0	0
PRUNE2	158471	broad.mit.edu	37	9	79324162	79324162	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:79324162T>G	uc010mpk.3	-	7	3152	c.3028A>C	c.(3028-3030)Att>Ctt	p.I1010L	PRUNE2_uc022bih.1_Missense_Mutation_p.I832L	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA.	1010					G1 phase|apoptosis|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TGAGGAGGAATGTCAGTCTCC	0.453000														29			12		0	0	1	0	0
BCDIN3D	144233	broad.mit.edu	37	12	50232614	50232614	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:50232614C>A	uc001rvh.3	-	1	461	c.419G>T	c.(418-420)aGg>aTg	p.R140M	LOC100286844_uc010smm.2_Intron|LOC100286844_uc001rvg.3_Non-coding_Transcript|LOC100286844_uc010smn.2_Non-coding_Transcript	NM_181708	NP_859059	Q7Z5W3	BN3D2_HUMAN	Homo sapiens BCDIN3 domain containing (BCDIN3D), mRNA.	140	Bin3-type SAM.						methyltransferase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|stomach(1)	9						CTTCCGGGTCCTTTGATTCAT	0.443000											OREG0021805	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		57			10		4.68919e-08	5.46558e-08	1	1	0
KRT36	8689	broad.mit.edu	37	17	39644948	39644948	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:39644948C>A	uc002hwt.3	-	1	488	c.488G>T	c.(487-489)aGg>aTg	p.R163M		NM_003771	NP_003762	O76013	KRT36_HUMAN	Homo sapiens keratin 36 (KRT36), mRNA.	163	Coil 1B.|Rod.					intermediate filament	protein binding|structural constituent of epidermis			breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1)	17		Breast(137;0.000286)				CAGGACCAGCCTGGCATTCTC	0.577000														61			8		3.09899e-07	3.55757e-07	1	1	0
ZNF507	22847	broad.mit.edu	37	19	32844694	32844694	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:32844694C>T	uc002nte.3	+	2	1230	c.958C>T	c.(958-960)Cca>Tca	p.P320S	ZNF507_uc002ntc.2_Missense_Mutation_p.P320S|ZNF507_uc010xrn.1_Missense_Mutation_p.P320S|ZNF507_uc002ntd.3_Missense_Mutation_p.P320S	NM_001136156	NP_055725	Q8TCN5	ZN507_HUMAN	Homo sapiens zinc finger protein 507 (ZNF507), transcript variant 1, mRNA.	320					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	31	Esophageal squamous(110;0.162)					CCACAATGGGCCATCAGTGCA	0.498000														123			70		0	0	1	0	0
ATOX1	475	broad.mit.edu	37	5	151125971	151125971	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:151125971C>T	uc003luk.3	-	2	220	c.122G>A	c.(121-123)tGc>tAc	p.C41Y		NM_004045	NP_004036	O00244	ATOX1_HUMAN	Homo sapiens ATX1 antioxidant protein 1 homolog (yeast) (ATOX1), mRNA.	41	HMA.				cellular copper ion homeostasis|copper ion transport|response to oxidative stress	cytosol	copper chaperone activity|copper-dependent protein binding						Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)			AGATTCAATGCAGACCTTCTT	0.517000														80			7		0	0	1	0	0
C20orf4	25980	broad.mit.edu	37	20	34828309	34828309	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:34828309C>T	uc002xfe.1	+	1	825	c.519C>T	c.(517-519)cgC>cgT	p.R173R	C20orf4_uc002xfc.2_Silent_p.R173R	NM_015511	NP_056326	Q9Y312	CT004_HUMAN	Homo sapiens chromosome 20 open reading frame 4 (C20orf4), mRNA.	173								p.R173H(1)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(1)|lung(5)|skin(1)	14	Breast(12;0.0162)	Myeloproliferative disorder(115;0.0393)				CCAAGGACCGCGTGGGGCAGA	0.582000														59			36		0	0	1	0	0
MKL1	57591	broad.mit.edu	37	22	40827453	40827453	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:40827453G>T	uc003ayv.1	-	2	302	c.95C>A	c.(94-96)tCc>tAc	p.S32Y	MKL1_uc010gyf.1_Missense_Mutation_p.S32Y|MKL1_uc003ayw.1_Missense_Mutation_p.S32Y|MKL1_uc010gye.1_Missense_Mutation_p.S32Y	NM_020831	NP_065882	Q969V6	MKL1_HUMAN	Homo sapiens megakaryoblastic leukemia (translocation) 1 (MKL1), mRNA.	32	Mediates interaction with SCAI and ACTB (By similarity).				positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						CTCCGGCCGGGAACGAATCTT	0.468000			T	RBM15	acute megakaryocytic leukemia									223			17		1.33834e-09	1.59673e-09	1	1	0
PLXNA3	55558	broad.mit.edu	37	X	153699861	153699861	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153699861C>A	uc004flm.3	+	31	5573	c.5400C>A	c.(5398-5400)tcC>tcA	p.S1800S		NM_017514	NP_059984	P51805	PLXA3_HUMAN	Homo sapiens plexin A3 (PLXNA3), mRNA.	1800					axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AGATGGCATCCATCAGCGACC	0.552000														90			8		0.335167	0.336322	1	1	0
ZNF766	90321	broad.mit.edu	37	19	52785424	52785424	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:52785424G>T	uc002pyt.1	+	2	501	c.124G>T	c.(124-126)Gac>Tac	p.D42Y	ZNF766_uc002pyr.1_Missense_Mutation_p.D27Y|ZNF766_uc002pys.1_Missense_Mutation_p.D27Y	NM_001010851	NP_001010851	Q5HY98	ZN766_HUMAN	Homo sapiens zinc finger protein 766 (ZNF766), mRNA.	27	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	17				GBM - Glioblastoma multiforme(134;0.00236)|OV - Ovarian serous cystadenocarcinoma(262;0.00871)		GAAATGCCTGGACCCTGTGCA	0.488000														149			18		9.16793e-09	1.08001e-08	1	1	0
MAPK8	5599	broad.mit.edu	37	10	49643001	49643001	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:49643001G>A	uc001jgp.3	+	10	1262	c.1213G>A	c.(1213-1215)Gat>Aat	p.D405N	MAPK8_uc001jgn.3_Missense_Mutation_p.D405N|MAPK8_uc001jgm.3_Missense_Mutation_p.D405N|MAPK8_uc001jgo.3_3'UTR|MAPK8_uc001jgq.3_3'UTR|MAPK8_uc009xoa.3_3'UTR|MAPK8_uc021ppy.1_Missense_Mutation_p.D405N|MAPK8_uc010qgk.2_3'UTR	NM_139049	NP_620637	P45983	MK08_HUMAN	Homo sapiens mitogen-activated protein kinase 8 (MAPK8), transcript variant JNK1-a2, mRNA.	405					MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of pro-apoptotic gene products|cellular response to mechanical stimulus|induction of apoptosis by intracellular signals|innate immune response|negative regulation of apoptosis|negative regulation of protein binding|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of deacetylase activity|regulation of protein localization|regulation of sequence-specific DNA binding transcription factor activity|response to UV|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|JUN kinase activity|histone deacetylase binding|histone deacetylase regulator activity|protein binding			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	34		Ovarian(717;0.0221)|Lung SC(717;0.113)|all_neural(218;0.116)		Epithelial(53;3.46e-65)|Lung(62;0.125)		AATGTCAACAGATCCGACTTT	0.517000														130			67		0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1272808	1272808	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:1272808G>A	uc001lta.3	+	30	14757	c.14698G>A	c.(14698-14700)Gtg>Atg	p.V4900M		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	4900	Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CTCGTCCACCGTGGGGACCAC	0.652000														18			9		0	0	1	0	0
PPP1R7	5510	broad.mit.edu	37	2	242102714	242102714	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:242102714C>T	uc002wat.1	+	6	621	c.612C>T	c.(610-612)atC>atT	p.I204I	PPP1R7_uc010fzm.1_Silent_p.I188I|PPP1R7_uc002was.3_Silent_p.I204I|PPP1R7_uc002wau.1_Silent_p.I161I	NM_002712	NP_002703	Q15435	PP1R7_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 7 (PPP1R7), mRNA.	204						cytoplasm|nucleus	protein binding|protein phosphatase type 1 regulator activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)	23		all_cancers(19;6.1e-33)|all_epithelial(40;1.07e-13)|Breast(86;0.000141)|Renal(207;0.00528)|all_lung(227;0.0446)|Ovarian(221;0.104)|Lung NSC(271;0.115)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.92e-32)|all cancers(36;5.35e-29)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-14)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.24e-08)|BRCA - Breast invasive adenocarcinoma(100;3.56e-06)|Lung(119;0.000588)|LUSC - Lung squamous cell carcinoma(224;0.0048)|Colorectal(34;0.0137)|COAD - Colon adenocarcinoma(134;0.096)		TCGAAAATATCGACACCTTAA	0.502000														180			96		0	0	1	0	0
SIGLEC6	946	broad.mit.edu	37	19	52032990	52032990	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:52032990G>A	uc002pwy.3	-	4	1208	c.1000C>T	c.(1000-1002)Ctc>Ttc	p.L334F	SIGLEC6_uc002pwz.3_Missense_Mutation_p.L318F|SIGLEC6_uc010ydb.2_Missense_Mutation_p.L282F|SIGLEC6_uc010ydc.2_Missense_Mutation_p.L345F|SIGLEC6_uc002pxa.3_Missense_Mutation_p.L334F|SIGLEC6_uc010eoz.2_Missense_Mutation_p.L323F|SIGLEC6_uc010epa.2_Missense_Mutation_p.L323F|SIGLEC6_uc010epb.2_Missense_Mutation_p.L287F	NM_001245	NP_001236	O43699	SIGL6_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 6 (SIGLEC6), transcript variant 1, mRNA.	334					cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		TGCACAAAGAGACTCAGAGAG	0.577000														7			14		0	0	1	0	0
DHX38	9785	broad.mit.edu	37	16	72141254	72141254	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:72141254C>T	uc002fcb.3	+	19	2971	c.2616C>T	c.(2614-2616)agC>agT	p.S872S	DHX38_uc010vmp.2_Silent_p.S184S	NM_014003	NP_054722	Q92620	PRP16_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 38 (DHX38), mRNA.	872	Helicase C-terminal.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				ACACCCAGAGCGCCTACAAGA	0.592000														29			17		0	0	1	0	0
ANGPTL2	23452	broad.mit.edu	37	9	129870903	129870903	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:129870903T>C	uc004bqr.1	-	1	608	c.108A>G	c.(106-108)agA>agG	p.R36R	RALGPS1_uc022bno.1_Intron|RALGPS1_uc011mab.2_Intron|RALGPS1_uc011mac.2_Intron|RALGPS1_uc004bqo.2_Intron|RALGPS1_uc004bqq.4_Intron|ANGPTL2_uc010mxg.1_Intron	NM_012098	NP_036230	Q9UKU9	ANGL2_HUMAN	Homo sapiens angiopoietin-like 2 (ANGPTL2), mRNA.	36					multicellular organismal development|signal transduction	extracellular space	receptor binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|urinary_tract(1)	18						AAATGAACTCTCTTGGCGAGC	0.607000														47			4		0	0	1	0	0
CMA1	1215	broad.mit.edu	37	14	24976590	24976590	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:24976590C>T	uc001wpp.1	-	1	211	c.181G>A	c.(181-183)Gtg>Atg	p.V61M	CMA1_uc010alx.1_Intron	NM_001836	NP_001827	P23946	CMA1_HUMAN	Homo sapiens chymase 1, mast cell (CMA1), mRNA.	61	Peptidase S1.				interleukin-1 beta biosynthetic process|proteolysis	extracellular region	serine-type endopeptidase activity			kidney(1)|lung(8)|pancreas(1)|prostate(1)	11				GBM - Glioblastoma multiforme(265;0.0271)		GCCGTCAGCACAAAGTTCCGT	0.478000														100			57		0	0	1	0	0
TMC2	117532	broad.mit.edu	37	20	2621951	2621951	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:2621951C>T	uc002wgf.1	+	19	2690	c.2675C>T	c.(2674-2676)cCg>cTg	p.P892L	TMC2_uc002wgg.1_Missense_Mutation_p.P876L	NM_080751	NP_542789	Q8TDI7	TMC2_HUMAN	Homo sapiens transmembrane channel-like 2 (TMC2), mRNA.	892						integral to membrane				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						CAGACTCATCCGTGGAGGTCA	0.602000														22			22		0	0	1	0	0
PTGFRN	5738	broad.mit.edu	37	1	117492100	117492100	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:117492100C>T	uc001egv.1	+	3	1256	c.1119C>T	c.(1117-1119)tgC>tgT	p.C373C		NM_020440	NP_065173	Q9P2B2	FPRP_HUMAN	Homo sapiens prostaglandin F2 receptor negative regulator (PTGFRN), mRNA.	373	Ig-like C2-type 3.					Golgi apparatus|endoplasmic reticulum membrane|integral to membrane	protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		ACTATTACTGCCACGTGTCCC	0.552000														42			36		0	0	1	0	0
WDR6	11180	broad.mit.edu	37	3	49050759	49050759	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49050759G>A	uc003cvj.2	+	1	2020	c.1882G>A	c.(1882-1884)Gac>Aac	p.D628N	WDR6_uc011bbx.1_Silent_p.E393E|WDR6_uc011bby.1_Missense_Mutation_p.D76N|WDR6_uc010hkn.2_Missense_Mutation_p.D572N|WDR6_uc011bbz.1_Missense_Mutation_p.D547N	NM_018031	NP_060501	Q9NNW5	WDR6_HUMAN	Homo sapiens WD repeat domain 6 (WDR6), mRNA.	598					cell cycle arrest|negative regulation of cell proliferation	cytoplasm				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		GTTTGTACGAGACGGCCAGCT	0.577000														16			9		0	0	1	0	0
MORC2	22880	broad.mit.edu	37	22	31338136	31338136	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:31338136T>G	uc003aje.1	-	7	1727	c.363A>C	c.(361-363)gaA>gaC	p.E121D		NM_014941	NP_055756	Q9Y6X9	MORC2_HUMAN	Homo sapiens MORC family CW-type zinc finger 2 (MORC2), mRNA.	183							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						GGGTCATCACTTCCTCCTCAG	0.493000														66			36		0	0	1	0	0
PLK1S1	55857	broad.mit.edu	37	20	21143787	21143787	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:21143787G>A	uc002wsb.3	+	5	1472	c.1339G>A	c.(1339-1341)Gca>Aca	p.A447T	PLK1S1_uc010zsh.2_Missense_Mutation_p.A344T|PLK1S1_uc010zsi.2_Missense_Mutation_p.A314T|PLK1S1_uc010zsj.2_Non-coding_Transcript|BC042893_uc002wsc.3_Intron|PLK1S1_uc002wsd.3_Non-coding_Transcript	NM_018474	NP_060944	Q2M2Z5	KIZ_HUMAN	Homo sapiens polo-like kinase 1 substrate 1 (PLK1S1), transcript variant 1, mRNA.	447					spindle organization	centrosome	protein kinase binding										CTCCACTAACGCACCAACAAG	0.373000														68			43		0	0	1	0	0
C16orf55	124045	broad.mit.edu	37	16	89724737	89724737	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:89724737G>T	uc010vpk.1	+	1	193	c.119G>T	c.(118-120)aGg>aTg	p.R40M	CHMP1A_uc002fnu.3_5'Flank|CHMP1A_uc002fnv.3_5'Flank|C16orf55_uc002fnw.1_Missense_Mutation_p.R39M|C16orf55_uc002fny.2_Intron|C16orf55_uc002fnx.4_Missense_Mutation_p.R40M	NM_153025	NP_694570	Q96N06	CP055_HUMAN	Homo sapiens chromosome 16 open reading frame 55 (C16orf55), mRNA.	39										cervix(1)|kidney(1)	2		all_lung(18;0.000665)|all_hematologic(23;0.0355)		BRCA - Breast invasive adenocarcinoma(80;0.0274)		CAGGAAGCCAGGCAGGCAGAC	0.567000														32			4		0.00909568	0.00940365	1	1	0
RBBP6	5930	broad.mit.edu	37	16	24578499	24578499	+	Nonsense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:24578499C>A	uc002dmh.3	+	14	2665	c.1625C>A	c.(1624-1626)tCa>tAa	p.S542*	RBBP6_uc010vcb.1_Nonsense_Mutation_p.S409*|RBBP6_uc002dmi.3_Nonsense_Mutation_p.S542*|RBBP6_uc010bxr.3_Intron|RBBP6_uc002dmk.3_Nonsense_Mutation_p.S409*	NM_006910	NP_008841	Q7Z6E9	RBBP6_HUMAN	Homo sapiens retinoblastoma binding protein 6 (RBBP6), transcript variant 1, mRNA.	542					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		AGCGAAAGATCACAGAGGACT	0.458000														40			23		4.26978e-12	5.24748e-12	1	1	0
CA10	56934	broad.mit.edu	37	17	50008453	50008453	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:50008453A>C	uc002itv.4	-	3	930	c.194T>G	c.(193-195)cTt>cGt	p.L65R	CA10_uc002itw.4_Missense_Mutation_p.L59R|CA10_uc002itx.4_Missense_Mutation_p.L59R|CA10_uc002ity.4_Missense_Mutation_p.L59R|CA10_uc002itz.2_Missense_Mutation_p.L59R	NM_020178	NP_064563	Q9NS85	CAH10_HUMAN	Homo sapiens carbonic anhydrase X (CA10), transcript variant 2, mRNA.	59					brain development			p.R65R(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)			CACAGAGCAAAGATTCCAAGC	0.468000														117			14		0	0	1	0	0
TRERF1	55809	broad.mit.edu	37	6	42224502	42224502	+	Silent	SNP	A	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:42224502A>T	uc003ose.2	-	11	3167	c.2604T>A	c.(2602-2604)gcT>gcA	p.A868A	TRERF1_uc011duq.1_Silent_p.A765A|TRERF1_uc003osb.2_Silent_p.A604A|TRERF1_uc003osc.2_Silent_p.A604A|TRERF1_uc003osd.2_Silent_p.A848A	NM_033502	NP_277037	Q96PN7	TREF1_HUMAN	Homo sapiens transcriptional regulating factor 1 (TRERF1), mRNA.	848	ELM2.|Interacts with CREBBP.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GAGAGTGCAAAGCAAATTCAG	0.418000														38			6		0	0	1	0	0
DKK4	27121	broad.mit.edu	37	8	42234530	42234530	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:42234530G>A	uc003xpb.3	-	0	145	c.34C>T	c.(34-36)Ctc>Ttc	p.L12F		NM_014420	NP_055235	Q9UBT3	DKK4_HUMAN	Homo sapiens dickkopf homolog 4 (Xenopus laevis) (DKK4), mRNA.	12					Wnt receptor signaling pathway|multicellular organismal development|negative regulation of Wnt receptor signaling pathway	extracellular region				NS(1)|endometrium(1)|large_intestine(7)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	14	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;2.58e-12)|Lung NSC(13;4.24e-11)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.1)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;3.48e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00523)|Lung(22;0.00597)|LUSC - Lung squamous cell carcinoma(45;0.024)			GGAGAGCAGAGCCAGCTCAGC	0.657000														22			16		0	0	1	0	0
NUPL2	11097	broad.mit.edu	37	7	23240207	23240207	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:23240207C>A	uc003svu.3	+	6	1374	c.1115C>A	c.(1114-1116)tCt>tAt	p.S372Y	NUPL2_uc003svv.3_Non-coding_Transcript|NUPL2_uc011jyw.2_Non-coding_Transcript|NUPL2_uc011jyx.2_Missense_Mutation_p.S144Y	NM_007342	NP_031368	O15504	NUPL2_HUMAN	Homo sapiens nucleoporin like 2 (NUPL2), mRNA.	372	Interaction with GLE1.|Ser-rich.				carbohydrate metabolic process|glucose transport|mRNA transport|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nuclear pore	nuclear export signal receptor activity|nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ATATCCACTTCTCTGTCAGCC	0.428000														242			12		9.31168e-06	1.03939e-05	1	1	0
SDK2	54549	broad.mit.edu	37	17	71381994	71381994	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:71381994G>A	uc010dfm.3	-	31	4561	c.4561C>T	c.(4561-4563)Cga>Tga	p.R1521*	SDK2_uc002jjt.4_Nonsense_Mutation_p.R680*|SDK2_uc010dfn.2_Nonsense_Mutation_p.R1200*	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN	Homo sapiens sidekick cell adhesion molecule 2 (SDK2), mRNA.	1521	Fibronectin type-III 10.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						ACCTGCCATCGGATTAGCACG	0.652000														9			6		0	0	1	0	0
LRRCC1	85444	broad.mit.edu	37	8	86021909	86021909	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:86021909G>A	uc003ycw.3	+	1	392	c.184G>A	c.(184-186)Gat>Aat	p.D62N	LRRCC1_uc010lzz.2_Intron|LRRCC1_uc022awx.1_Intron|LRRCC1_uc010maa.2_Intron|LRRCC1_uc003ycy.3_Missense_Mutation_p.D42N	NM_033402	NP_208325	Q9C099	LRCC1_HUMAN	Homo sapiens leucine rich repeat and coiled-coil domain containing 1 (LRRCC1), mRNA.	62					cell division|mitosis	centriole|nucleus				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						CGAAGCCATTGATCATATTTG	0.308000														24			4		0	0	1	0	0
ALDH5A1	7915	broad.mit.edu	37	6	24515450	24515450	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:24515450G>A	uc003nef.3	+	5	849	c.821G>A	c.(820-822)cGa>cAa	p.R274Q	ALDH5A1_uc003neg.3_Missense_Mutation_p.R261Q	NM_170740	NP_733936	P51649	SSDH_HUMAN	Homo sapiens aldehyde dehydrogenase 5 family, member A1 (ALDH5A1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	261					acetate metabolic process|central nervous system development|galactosylceramide metabolic process|gamma-aminobutyric acid catabolic process|glucose metabolic process|glutamate metabolic process|glutamine metabolic process|glutathione metabolic process|glycerophospholipid metabolic process|neurotransmitter catabolic process|neurotransmitter secretion|protein homotetramerization|respiratory electron transport chain|short-chain fatty acid metabolic process|succinate metabolic process	mitochondrial matrix|soluble fraction	succinate-semialdehyde dehydrogenase activity	p.R274G(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|skin(2)|urinary_tract(1)	20					Chlormerodrin(DB00534)|NADH(DB00157)|Succinic acid(DB00139)	CCCTGTTCTCGAAAGAATGCC	0.423000														55			38		0	0	1	0	0
TRPC1	7220	broad.mit.edu	37	3	142496479	142496479	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:142496479G>A	uc003evc.3	+	4	774	c.638G>A	c.(637-639)cGt>cAt	p.R213H	TRPC1_uc003evb.3_Missense_Mutation_p.R179H	NM_001251845	NP_001238774	P48995	TRPC1_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 1 (TRPC1), transcript variant 1, mRNA.	213					axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion	cytosol|integral to plasma membrane	protein binding|store-operated calcium channel activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						CACAGGTTTCGTCTTGATATA	0.279000														29			12		0	0	1	0	0
NCOR1	9611	broad.mit.edu	37	17	15942850	15942850	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:15942850A>G	uc002gpo.3	-	43	7121	c.6852T>C	c.(6850-6852)gtT>gtC	p.V2284V	NCOR1_uc002gpn.3_Silent_p.V2181V|NCOR1_uc002gpl.3_Silent_p.V299V|NCOR1_uc002gpm.3_Silent_p.V804V|NCOR1_uc010vwb.2_Silent_p.V868V|NCOR1_uc010coy.3_Silent_p.V1192V	NM_006311	NP_006302	O75376	NCOR1_HUMAN	Homo sapiens nuclear receptor corepressor 1 (NCOR1), transcript variant 1, mRNA.	2284	Interaction with C1D (By similarity).				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GGGACATGACAACTCCATGAT	0.502000														47			7		0	0	1	0	0
FLNA	2316	broad.mit.edu	37	X	153588193	153588193	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153588193G>A	uc004fkk.2	-	22	4135	c.3886C>T	c.(3886-3888)Cgt>Tgt	p.R1296C	FLNA_uc011mzn.1_5'Flank|FLNA_uc010nuu.1_Missense_Mutation_p.R1296C	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	Homo sapiens filamin A, alpha (FLNA), transcript variant 2, mRNA.	1296					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	Fc-gamma receptor I complex binding|GTP-Ral binding|Rac GTPase binding|actin filament binding|glycoprotein binding|protein homodimerization activity|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TTGGCCACACGGGCCTTGACG	0.622000														49			9		0	0	1	0	0
MUC13	56667	broad.mit.edu	37	3	124635295	124635295	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:124635295G>A	uc003ehq.2	-	5	869	c.830C>T	c.(829-831)gCt>gTt	p.A277V		NM_033049	NP_149038	Q9H3R2	MUC13_HUMAN	Homo sapiens mucin 13, cell surface associated (MUC13), mRNA.	277	SEA.					extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1)	18						CTTGTCATCAGCACGCATTTC	0.333000														10			7		0	0	1	0	0
AQR	9716	broad.mit.edu	37	15	35166166	35166166	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:35166166G>T	uc001ziv.3	-	29	3641	c.3460C>A	c.(3460-3462)Cta>Ata	p.L1154I		NM_014691	NP_055506	O60306	AQR_HUMAN	Homo sapiens aquarius homolog (mouse) (AQR), mRNA.	1154						catalytic step 2 spliceosome	RNA binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		AAGTTTCCTAGATTCTTGTAT	0.388000														36			21		7.41877e-09	8.75093e-09	1	1	0
KLHL20	27252	broad.mit.edu	37	1	173744789	173744789	+	Silent	SNP	T	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:173744789T>A	uc001gjc.3	+	9	1625	c.1446T>A	c.(1444-1446)ccT>ccA	p.P482P	KLHL20_uc010pmr.2_Silent_p.P293P|KLHL20_uc009wwf.3_Silent_p.P464P	NM_014458	NP_055273	Q9Y2M5	KLH20_HUMAN	Homo sapiens kelch-like 20 (Drosophila) (KLHL20), mRNA.	482					cytoskeleton organization|negative regulation of apoptosis|proteasomal ubiquitin-dependent protein catabolic process|response to interferon-alpha	Cul3-RING ubiquitin ligase complex|Golgi apparatus|PML body|actin cytoskeleton|cell surface|perinuclear region of cytoplasm	actin binding|interferon-gamma binding|ubiquitin-protein ligase activity			breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1)	34						GTTACAATCCTCAGGAAAACA	0.453000														33			4		0	0	1	0	0
NLGN2	57555	broad.mit.edu	37	17	7319374	7319374	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7319374G>A	uc002ggt.1	+	5	1655	c.1582G>A	c.(1582-1584)Gtc>Atc	p.V528I		NM_020795	NP_065846	Q8NFZ4	NLGN2_HUMAN	Homo sapiens neuroligin 2 (NLGN2), mRNA.	528					cell-cell junction maintenance|neuron cell-cell adhesion|positive regulation of synaptogenesis|regulation of inhibitory postsynaptic membrane potential|synapse assembly	cell surface|integral to plasma membrane|postsynaptic membrane	neurexin binding|receptor activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|prostate(2)|skin(3)	22		Prostate(122;0.157)				CAAGAATGACGTCATGCTCAG	0.637000														22			15		0	0	1	0	0
ZRANB1	54764	broad.mit.edu	37	10	126662837	126662837	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:126662837T>C	uc010qug.2	+	5	1479	c.1375T>C	c.(1375-1377)Tat>Cat	p.Y459H	ZRANB1_uc001lic.3_Missense_Mutation_p.Y433H	NM_017580	NP_060050	Q9UGI0	ZRAN1_HUMAN	Homo sapiens zinc finger, RAN-binding domain containing 1 (ZRANB1), mRNA.	433	OTU.|TRAF-binding.				Wnt receptor signaling pathway|positive regulation of Wnt receptor signaling pathway|protein K63-linked deubiquitination	aggresome|centrosome|intermediate filament cytoskeleton|nucleolus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	23		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.172)		Colorectal(40;0.113)|COAD - Colon adenocarcinoma(40;0.119)		CAGTCGACTGTATGCACTTTG	0.438000														68			38		0	0	1	0	0
TRAPPC9	83696	broad.mit.edu	37	8	141381188	141381188	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:141381188C>T	uc003yvh.2	-	7	1535	c.1520G>A	c.(1519-1521)cGc>cAc	p.R507H	TRAPPC9_uc003yvj.2_Missense_Mutation_p.R409H|TRAPPC9_uc003yvi.1_Missense_Mutation_p.R400H	NM_031466	NP_001153844	Q96Q05	TPPC9_HUMAN	Homo sapiens trafficking protein particle complex 9 (TRAPPC9), transcript variant 1, mRNA.	409					cell differentiation	Golgi apparatus|endoplasmic reticulum				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						GGCGGCCACGCGCTTGAAGAA	0.592000														31			16		0	0	1	0	0
SETD2	29072	broad.mit.edu	37	3	47161785	47161785	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:47161785G>T	uc003cqv.3	-	2	4394	c.4308C>A	c.(4306-4308)ccC>ccA	p.P1436P	SETD2_uc003cqs.3_Silent_p.P1447P	NM_014159	NP_054878	Q9BYW2	SETD2_HUMAN	Homo sapiens SET domain containing 2 (SETD2), mRNA.	1447					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TGACACAGGAGGGCCCAACCA	0.478000			"""N, F, S, Mis"""		clear cell renal carcinoma									92			7		2.0095e-06	2.27092e-06	1	1	0
SLC6A5	9152	broad.mit.edu	37	11	20658807	20658807	+	Nonsense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:20658807C>A	uc001mqd.3	+	11	2100	c.1827C>A	c.(1825-1827)tgC>tgA	p.C609*	SLC6A5_uc009yic.3_Nonsense_Mutation_p.C374*	NM_004211	NP_004202	Q9Y345	SC6A5_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, glycine), member 5 (SLC6A5), mRNA.	609					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	CTCTGGGCTGCTGCATTTGTT	0.542000														71			10		0.00621372	0.00645399	1	1	0
FAM5B	57795	broad.mit.edu	37	1	177247738	177247738	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:177247738G>A	uc001glf.3	+	6	1364	c.1052G>A	c.(1051-1053)cGg>cAg	p.R351Q	FAM5B_uc010pna.1_Missense_Mutation_p.R101Q|FAM5B_uc001glg.3_Missense_Mutation_p.R246Q	NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN	Homo sapiens family with sequence similarity 5, member B (FAM5B), mRNA.	351						extracellular region				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						CCCGATGACCGGTTCCTGAAC	0.567000														133			100		0	0	1	0	0
CYTH2	9266	broad.mit.edu	37	19	48981590	48981590	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:48981590A>G	uc002pjj.4	+	9	1244	c.944A>G	c.(943-945)gAc>gGc	p.D315G		NM_017457	NP_059431	Q99418	CYH2_HUMAN	Homo sapiens cytohesin 2 (CYTH2), transcript variant 1, mRNA.	316	PH.				actin cytoskeleton organization|endocytosis|regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|membrane fraction|plasma membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						GAGGTGGACGACCCCCGGAAA	0.607000														42			23		0	0	1	0	0
C8orf59	401466	broad.mit.edu	37	8	86129663	86129663	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:86129663G>T	uc022awy.1	-	2	306	c.66C>A	c.(64-66)aaC>aaA	p.N22K	C8orf59_uc022awz.1_Missense_Mutation_p.N22K|C8orf59_uc022axa.1_Missense_Mutation_p.N22K|C8orf59_uc022axb.1_Missense_Mutation_p.N22K|C8orf59_uc011lfu.2_Non-coding_Transcript	NM_001099670	NP_001093143	Q8N0T1	CH059_HUMAN	Homo sapiens chromosome 8 open reading frame 59 (C8orf59), transcript variant 1, mRNA.	22																	TAGCCTTAAAGTTTTTTTGGC	0.338000														61			28		2.49675e-24	3.25954e-24	1	1	0
CRP	1401	broad.mit.edu	37	1	159683348	159683348	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:159683348G>A	uc001ftw.3	-	1	746	c.642C>T	c.(640-642)ggC>ggT	p.G214G	CRP_uc001ftx.1_Silent_p.G81G|CRP_uc001fty.1_Non-coding_Transcript	NM_000567	NP_000558	P02741	CRP_HUMAN	Homo sapiens C-reactive protein, pentraxin-related (CRP), mRNA.	214	Pentaxin.				acute-phase response|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|opsonization		Gram-positive bacterial cell surface binding|choline binding|low-density lipoprotein particle binding|metal ion binding|protein binding	p.G214C(1)		breast(1)|endometrium(3)|kidney(1)|lung(15)|ovary(1)|skin(1)	22	all_hematologic(112;0.0429)				Atorvastatin(DB01076)|Bezafibrate(DB01393)	TGAACACTTCGCCTTGCACTT	0.552000														63			9		0	0	1	0	0
OR2G2	81470	broad.mit.edu	37	1	247752103	247752103	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:247752103G>A	uc010pyy.2	+	0	442	c.442G>A	c.(442-444)Gca>Aca	p.A148T		NM_001001915	NP_001001915	Q8NGZ5	OR2G2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 2 (OR2G2), mRNA.	148					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			CATGGCCTTGGCATCTATGGC	0.557000														145			24		0	0	1	0	0
LRRC34	151827	broad.mit.edu	37	3	169525279	169525279	+	Splice_Site	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:169525279C>A	uc003ffy.3	-	4	618	c.380_splice	c.e4-1	p.G127_splice	LRRC34_uc003ffx.3_Splice_Site_p.G127_splice|LRRC34_uc003fga.4_Splice_Site_p.G66_splice|LRRC34_uc021xhd.1_Splice_Site_p.G127_splice	NM_001172779	NP_001166250	Q8IZ02	LRC34_HUMAN	Homo sapiens leucine rich repeat containing 34 (LRRC34), transcript variant 2, mRNA.	114										breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(2)	10	all_cancers(22;4.12e-22)|all_epithelial(15;7.54e-27)|all_lung(20;1.63e-16)|Lung NSC(18;6.92e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)			ACATCCAAACCTGAAGCACAG	0.333000														50			27		1.77063e-15	2.23094e-15	1	1	0
AIMP2	7965	broad.mit.edu	37	7	6054859	6054859	+	Missense_Mutation	SNP	T	C	C	rs150139402		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:6054859T>C	uc003spo.3	+	1	331	c.218T>C	c.(217-219)gTt>gCt	p.V73A		NM_006303	NP_006294	Q13155	AIMP2_HUMAN	Homo sapiens aminoacyl tRNA synthetase complex-interacting multifunctional protein 2 (AIMP2), mRNA.	73					apoptosis|cell differentiation|multicellular organismal development|tRNA aminoacylation for protein translation	cytosol|nucleus	protein binding			large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						AAAGCTGCAGTTGATGGCCTC	0.458000														122			9		0	0	1	0	0
SLC37A1	54020	broad.mit.edu	37	21	43963669	43963669	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:43963669C>T	uc002zbj.3	+	7	1669	c.687C>T	c.(685-687)atC>atT	p.I229I	SLC37A1_uc002zbi.3_Silent_p.I229I	NM_018964	NP_061837	P57057	GLPT_HUMAN	Homo sapiens solute carrier family 37 (glycerol-3-phosphate transporter), member 1 (SLC37A1), mRNA.	229					carbohydrate transport|transmembrane transport	integral to membrane				breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(3)	15						CTGGAGCCATCGTGGCAGCCA	0.597000														115			10		0	0	1	0	0
MCF2L	23263	broad.mit.edu	37	13	113729378	113729378	+	Missense_Mutation	SNP	G	A	A	rs145260894		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:113729378G>A	uc001vsu.3	+	10	1354	c.1354G>A	c.(1354-1356)Gcg>Acg	p.A452T	MCF2L_uc001vsq.3_Missense_Mutation_p.A452T|MCF2L_uc010tjr.2_Missense_Mutation_p.A395T|MCF2L_uc001vsr.3_Missense_Mutation_p.A399T|MCF2L_uc001vss.4_Missense_Mutation_p.A393T|MCF2L_uc010tjs.2_Missense_Mutation_p.A393T|MCF2L_uc001vst.1_Missense_Mutation_p.A357T	NM_024979	NP_079255	O15068	MCF2L_HUMAN	Homo sapiens MCF.2 cell line derived transforming sequence-like (MCF2L), transcript variant 2, mRNA.	425					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				CAAGCACTACGCGGTAGACTC	0.657000														65			34		0	0	1	0	0
GABPA	2551	broad.mit.edu	37	21	27124333	27124333	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:27124333T>G	uc002ylx.4	+	4	491	c.341T>G	c.(340-342)gTt>gGt	p.V114G	GABPA_uc002yly.4_Missense_Mutation_p.V114G	NM_001197297	NP_001184226	Q06546	GABPA_HUMAN	Homo sapiens GA binding protein transcription factor, alpha subunit 60kDa (GABPA), transcript variant 2, mRNA.	114					positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	24						CTTGAAATTGTTAAACCTGCG	0.348000														48			28		0	0	1	0	0
RFWD3	55159	broad.mit.edu	37	16	74678318	74678318	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:74678318C>T	uc002fda.3	-	5	1119	c.1021G>A	c.(1021-1023)Gtc>Atc	p.V341I	RFWD3_uc010cgq.3_Missense_Mutation_p.V341I	NM_018124	NP_060594	Q6PCD5	RFWD3_HUMAN	Homo sapiens ring finger and WD repeat domain 3 (RFWD3), mRNA.	341					DNA repair|mitotic cell cycle G1/S transition DNA damage checkpoint|response to ionizing radiation	nucleus	MDM2 binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	26						GCATAAAGGACGACAATGTCA	0.458000														93			54		0	0	1	0	0
TBCA	6902	broad.mit.edu	37	5	77004141	77004141	+	Nonsense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:77004141C>A	uc003kfh.1	-	1	189	c.85G>T	c.(85-87)Gag>Tag	p.E29*	TBCA_uc003kfi.1_Nonsense_Mutation_p.E29*	NM_004607	NP_004598	O75347	TBCA_HUMAN	Homo sapiens tubulin folding cofactor A (TBCA), mRNA.	29					'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway|tubulin complex assembly	cytoplasm|microtubule	chaperone binding|unfolded protein binding			kidney(1)|large_intestine(2)|lung(1)|ovary(1)	5		all_lung(232;0.000511)|Lung NSC(167;0.000601)|Ovarian(174;0.0105)|Prostate(461;0.214)		OV - Ovarian serous cystadenocarcinoma(54;1.02e-49)|Epithelial(54;1.05e-44)|all cancers(79;4.08e-40)		TGTTTTGCCTCTTTTTCATAC	0.284000														28			4		1	1	1	1	0
C12orf51	283450	broad.mit.edu	37	12	112648057	112648057	+	Splice_Site	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:112648057C>A	uc021reb.1	-	50	7624	c.7228_splice	c.e50-1	p.N2410_splice	C12orf51_uc001ttr.1_Splice_Site_p.N297_splice	NM_001109662	NP_001103132			Homo sapiens chromosome 12 open reading frame 51 (C12orf51), mRNA.											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(6)|large_intestine(16)|lung(49)|ovary(4)|prostate(1)|urinary_tract(6)	100						TTTTGGTGTTCTGGAAAGGAG	0.507000														71			39		2.05212e-20	2.64989e-20	1	1	0
PDZD4	57595	broad.mit.edu	37	X	153069203	153069203	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153069203G>A	uc004fja.1	-	7	2183	c.1933C>T	c.(1933-1935)Cgg>Tgg	p.R645W	PDZD4_uc004fiy.1_Missense_Mutation_p.R564W|PDZD4_uc004fiz.1_Missense_Mutation_p.R639W|PDZD4_uc004fix.2_Missense_Mutation_p.R543W|PDZD4_uc011mze.1_Missense_Mutation_p.R530W|PDZD4_uc022chy.1_Missense_Mutation_p.R18W	NM_032512	NP_115901	Q76G19	PDZD4_HUMAN	Homo sapiens PDZ domain containing 4 (PDZD4), mRNA.	639						cell cortex				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CGCACGGGCCGCTTGGCCACG	0.682000														41			26		0	0	1	0	0
OR10G9	219870	broad.mit.edu	37	11	123894466	123894466	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:123894466C>T	uc010sad.2	+	0	747	c.747C>T	c.(745-747)tgC>tgT	p.C249C		NM_001001953	NP_001001953	Q8NGN4	O10G9_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 9 (OR10G9), mRNA.	249					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1)	61		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		TGGTCCTTTGCTTTTTTGTTC	0.532000														111			7		0	0	1	0	0
TBC1D8	11138	broad.mit.edu	37	2	101654024	101654024	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:101654024C>T	uc010fiv.3	-	7	1508	c.1377G>A	c.(1375-1377)caG>caA	p.Q459Q	TBC1D8_uc010yvw.2_Silent_p.Q474Q|TBC1D8_uc002tau.4_Silent_p.Q216Q	NM_001102426	NP_001095896	O95759	TBCD8_HUMAN	Homo sapiens TBC1 domain family, member 8 (with GRAM domain) (TBC1D8), mRNA.	459					blood circulation|positive regulation of cell proliferation	intracellular|membrane	Rab GTPase activator activity|calcium ion binding			breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						GGCTGCCTGACTGCTGGAAGG	0.597000														57			29		0	0	1	0	0
CORO2B	10391	broad.mit.edu	37	15	69003117	69003117	+	Missense_Mutation	SNP	C	T	T	rs144874326		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:69003117C>T	uc002arj.4	+	3	674	c.380C>T	c.(379-381)aCg>aTg	p.T127M	CORO2B_uc021spj.1_Missense_Mutation_p.T122M|CORO2B_uc010bic.3_Missense_Mutation_p.T122M|CORO2B_uc002ark.3_5'Flank	NM_006091	NP_006082	Q9UQ03	COR2B_HUMAN	Homo sapiens coronin, actin binding protein, 2B (CORO2B), transcript variant 1, mRNA.	127					actin cytoskeleton organization	actin cytoskeleton|cytoplasm|membrane	actin filament binding			kidney(3)|large_intestine(13)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						CGGAACATGACGGAGGCGCTC	0.657000														12			7		0	0	1	0	0
TET3	200424	broad.mit.edu	37	2	74275219	74275219	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:74275219C>T	uc002skb.4	+	0	1770	c.1770C>T	c.(1768-1770)ccC>ccT	p.P590P	TET3_uc010fez.2_Silent_p.P590P	NM_144993	NP_659430	O43151	TET3_HUMAN	Homo sapiens tet methylcytosine dioxygenase 3 (TET3), mRNA.	590							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TTGGGCTTCCCGGCCCCCCTT	0.592000														13			11		0	0	1	0	0
SENP2	59343	broad.mit.edu	37	3	185330425	185330425	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:185330425G>A	uc003fpn.3	+	8	1019	c.848G>A	c.(847-849)tGt>tAt	p.C283Y	SENP2_uc011brv.2_Missense_Mutation_p.C273Y|SENP2_uc011brw.2_Missense_Mutation_p.C96Y	NM_021627	NP_067640	Q9HC62	SENP2_HUMAN	Homo sapiens SUMO1/sentrin/SMT3 specific peptidase 2 (SENP2), mRNA.	283					Wnt receptor signaling pathway|mRNA transport|protein desumoylation|protein transport|proteolysis|regulation of Wnt receptor signaling pathway|transmembrane transport	cytoplasm|nuclear membrane|nuclear pore	SUMO-specific protease activity|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(3)	12	all_cancers(143;1.28e-10)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			GGACCTCTATGTTCATTGAGA	0.308000														31			12		0	0	1	0	0
PDGFRA	5156	broad.mit.edu	37	4	55161379	55161379	+	Silent	SNP	C	T	T	rs149498489		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:55161379C>T	uc003han.4	+	22	3541	c.3210C>T	c.(3208-3210)atC>atT	p.I1070I	PDGFRA_uc003haa.3_Silent_p.I830I	NM_006206	NP_006197	P16234	PGFRA_HUMAN	Homo sapiens platelet-derived growth factor receptor, alpha polypeptide (PDGFRA), mRNA.	1070	Ser-rich.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of DNA replication|positive regulation of cell migration|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	p.I1070I(2)		NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	TTGAAGACATCGACATGATGG	0.547000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)				56			29		0	0	1	0	0
CASP10	843	broad.mit.edu	37	2	202082435	202082435	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:202082435C>A	uc002uxj.1	+	9	1958	c.1540C>A	c.(1540-1542)Cct>Act	p.P514T	CASP10_uc010ftb.2_3'UTR|CASP10_uc010fta.1_Missense_Mutation_p.P447T|CASP10_uc002uxk.1_Missense_Mutation_p.P471T|CASP10_uc002uxl.2_Intron|CASP10_uc002uxm.2_Intron	NM_032977	NP_116759	Q92851	CASPA_HUMAN	Homo sapiens caspase 10, apoptosis-related cysteine peptidase (CASP10), transcript variant 1, mRNA.	0					apoptosis|induction of apoptosis by extracellular signals|proteolysis	cytosol|plasma membrane	cysteine-type endopeptidase activity|identical protein binding|protein binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27						ACTAGTATTCCCTGTGCCCCT	0.468000														91			49		1.63038e-21	2.1118e-21	1	1	0
ATP1B4	23439	broad.mit.edu	37	X	119509350	119509350	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:119509350A>G	uc004esr.3	+	4	770	c.686A>G	c.(685-687)aAc>aGc	p.N229S	ATP1B4_uc004esq.3_Missense_Mutation_p.N225S|ATP1B4_uc011mtx.2_Missense_Mutation_p.N194S|ATP1B4_uc011mty.2_Missense_Mutation_p.N186S	NM_001142447	NP_001135919	Q9UN42	AT1B4_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, beta 4 polypeptide (ATP1B4), transcript variant 1, mRNA.	229					ATP biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to plasma membrane|nuclear inner membrane	sodium:potassium-exchanging ATPase activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	33						TTCCTAAAGAACTGCTCTGGT	0.478000														145			9		0	0	1	0	0
FAM46B	115572	broad.mit.edu	37	1	27333309	27333309	+	Missense_Mutation	SNP	C	T	T	rs142455633		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:27333309C>T	uc010ofj.2	-	1	576	c.404G>A	c.(403-405)cGc>cAc	p.R135H	BC016143_uc021ojq.1_Intron	NM_052943	NP_443175	Q96A09	FA46B_HUMAN	Homo sapiens family with sequence similarity 46, member B (FAM46B), mRNA.	135										breast(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;7.71e-51)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|STAD - Stomach adenocarcinoma(196;0.00114)|READ - Rectum adenocarcinoma(331;0.0419)		TGCCTCACTGCGCAGGTCCAC	0.637000														42			29		0	0	1	0	0
BEX1	55859	broad.mit.edu	37	X	102317981	102317981	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:102317981C>A	uc022cbj.1	-	0	222	c.222G>T	c.(220-222)caG>caT	p.Q74H	BEX1_uc004ejt.1_Missense_Mutation_p.Q74H	NM_018476	NP_060946	Q9HBH7	BEX1_HUMAN	Homo sapiens brain expressed, X-linked 1 (BEX1), mRNA.	74					cell differentiation|nervous system development	cytoplasm|nucleus				endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	12						TCATCCTTGCCTGTGGTTCTC	0.507000														151			16		2.35188e-11	2.87337e-11	1	1	0
SPATA5	166378	broad.mit.edu	37	4	124011759	124011759	+	Missense_Mutation	SNP	G	A	A	rs138229076		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:124011759G>A	uc003iez.4	+	13	2312	c.2239G>A	c.(2239-2241)Gat>Aat	p.D747N		NM_145207	NP_660208	Q8NB90	SPAT5_HUMAN	Homo sapiens spermatogenesis associated 5 (SPATA5), mRNA.	747					cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						GAATGTAGCCGATCGTGTTTT	0.353000														55			40		0	0	1	0	0
TCF20	6942	broad.mit.edu	37	22	42564699	42564699	+	Missense_Mutation	SNP	G	A	A	rs139681188		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:42564699G>A	uc003bcj.1	-	3	5977	c.5843C>T	c.(5842-5844)gCg>gTg	p.A1948V	TCF20_uc003bck.1_Intron	NM_005650	NP_005641	Q9UGU0	TCF20_HUMAN	Homo sapiens transcription factor 20 (AR1) (TCF20), transcript variant 1, mRNA.	1948					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	p.A1948T(1)|p.A1948A(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						GCTGCCTTTCGCGGTCTTGTT	0.627000											OREG0026603	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		6			6		0	0	1	0	0
HELB	92797	broad.mit.edu	37	12	66703903	66703903	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:66703903G>A	uc001sti.2	+	3	1223	c.1195G>A	c.(1195-1197)Gat>Aat	p.D399N	HELB_uc010ssz.1_Non-coding_Transcript|HELB_uc009zqt.1_Non-coding_Transcript	NM_033647	NP_387467	Q8NG08	HELB_HUMAN	Homo sapiens helicase (DNA) B (HELB), mRNA.	399					DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity	p.D399Y(2)|p.D399N(2)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		GAATTCAAGCGATGATGCATT	0.413000														104			74		0	0	1	0	0
BRPF3	27154	broad.mit.edu	37	6	36178260	36178260	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:36178260G>A	uc003olv.4	+	5	2358	c.2134G>A	c.(2134-2136)Gag>Aag	p.E712K	BRPF3_uc010jwb.3_Missense_Mutation_p.E712K|BRPF3_uc011dtj.2_Non-coding_Transcript|BRPF3_uc010jwc.3_Non-coding_Transcript|BRPF3_uc011dtk.2_Missense_Mutation_p.E712K	NM_015695	NP_056510	Q9ULD4	BRPF3_HUMAN	Homo sapiens bromodomain and PHD finger containing, 3 (BRPF3), mRNA.	712					histone H3 acetylation|platelet activation|platelet degranulation	MOZ/MORF histone acetyltransferase complex|cytosol|extracellular region	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						TCACCTGCCCGAGTCACCCAA	0.652000														34			24		0	0	1	0	0
ZCWPW1	55063	broad.mit.edu	37	7	100016806	100016806	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100016806A>C	uc003uut.3	-	4	537	c.289T>G	c.(289-291)Tca>Gca	p.S97A	ZCWPW1_uc011kjq.2_5'Flank|ZCWPW1_uc003uur.3_5'Flank|ZCWPW1_uc003uus.3_5'UTR|ZCWPW1_uc011kjr.2_Missense_Mutation_p.S96A|ZCWPW1_uc003uuu.1_Missense_Mutation_p.S96A|ZCWPW1_uc011kjt.1_Missense_Mutation_p.S96A|ZCWPW1_uc011kju.1_Missense_Mutation_p.S96A	NM_017984	NP_060454	Q9H0M4	ZCPW1_HUMAN	Homo sapiens zinc finger, CW type with PWWP domain 1 (ZCWPW1), mRNA.	97							zinc ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GTAAGACTTGATTTTTCCTGC	0.453000														85			33		0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166847988	166847988	+	Nonsense_Mutation	SNP	G	A	A	rs146304578	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:166847988G>A	uc002udo.4	-	27	6024	c.5797C>T	c.(5797-5799)Cga>Tga	p.R1933*	SCN1A_uc010fpk.3_Nonsense_Mutation_p.R1905*|SCN1A_uc021vsb.1_Nonsense_Mutation_p.R1922*	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	1933						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.R1922*(1)		NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	TTTACAGTTCGCTTTAAAAGG	0.358000														50			33		0	0	1	0	0
ZFP91	80829	broad.mit.edu	37	11	58379786	58379786	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:58379786G>A	uc001nmx.4	+	6	1061	c.893G>A	c.(892-894)cGt>cAt	p.R298H	ZFP91_uc001nmy.4_Missense_Mutation_p.R297H|CNTF_uc010rkm.2_Non-coding_Transcript	NM_053023	NP_444251	Q96JP5	ZFP91_HUMAN	Homo sapiens zinc finger protein 91 homolog (mouse) (ZFP91), transcript variant 1, mRNA.	298					activation of NF-kappaB-inducing kinase activity|protein K63-linked ubiquitination	nucleus	nucleic acid binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				AAAAGTCCACGTTTACCCAAA	0.398000														27			9		0	0	1	0	0
EMILIN1	11117	broad.mit.edu	37	2	27306234	27306234	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:27306234G>A	uc002rii.4	+	3	2294	c.1795G>A	c.(1795-1797)Gtg>Atg	p.V599M	EMILIN1_uc002rik.4_5'Flank	NM_007046	NP_008977	Q9Y6C2	EMIL1_HUMAN	Homo sapiens elastin microfibril interfacer 1 (EMILIN1), mRNA.	599					cell adhesion	collagen		p.G598A(1)		breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(14)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	26	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCGGGATGGTGTGGAGCGCTG	0.697000														39			15		0	0	1	0	0
ZNF334	55713	broad.mit.edu	37	20	45131588	45131588	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:45131588T>G	uc002xsa.3	-	3	921	c.459A>C	c.(457-459)agA>agC	p.R153S	ZNF334_uc002xsb.3_Missense_Mutation_p.R92S|ZNF334_uc002xsd.3_Missense_Mutation_p.R92S|ZNF334_uc002xsc.3_Missense_Mutation_p.R130S|ZNF334_uc010ghl.3_Missense_Mutation_p.R129S			Q9HCZ1	ZN334_HUMAN	Homo sapiens zinc finger protein 334 (ZNF334), transcript variant 2, mRNA.	130					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				AGGGCATTTTTCTTGAGGGAA	0.343000														45			24		0	0	1	0	0
CES2	8824	broad.mit.edu	37	16	66974239	66974239	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:66974239G>A	uc002eqr.3	+	3	1730	c.730G>A	c.(730-732)Ggt>Agt	p.G244S	CES2_uc002eqq.3_Missense_Mutation_p.G244S|CES2_uc002eqs.3_Missense_Mutation_p.G87S	NM_003869	NP_003860	O00748	EST2_HUMAN	Homo sapiens carboxylesterase 2 (CES2), transcript variant 1, mRNA.	180					catabolic process	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166)		GTACCGCCTGGGTGTCCTGGG	0.607000														33			35		0	0	1	0	0
NCAPH	23397	broad.mit.edu	37	2	97009879	97009879	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:97009879C>A	uc002svz.1	+	5	716	c.632C>A	c.(631-633)gCt>gAt	p.A211D	NCAPH_uc010fhu.1_Missense_Mutation_p.A187D|NCAPH_uc010fhv.1_Missense_Mutation_p.A200D|NCAPH_uc010yum.1_Missense_Mutation_p.A187D|NCAPH_uc010yun.1_Missense_Mutation_p.A75D	NM_015341	NP_056156	Q15003	CND2_HUMAN	Homo sapiens non-SMC condensin I complex, subunit H (NCAPH), mRNA.	211					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|microtubule cytoskeleton|nucleus		p.A211A(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(717;0.0221)				ACCAAAAAGGCTGTAAAGCCA	0.418000														31			10		0.000442599	0.000473562	1	1	0
MYOF	26509	broad.mit.edu	37	10	95157186	95157186	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:95157186C>T	uc001kin.3	-	13	1372	c.1249G>A	c.(1249-1251)Gca>Aca	p.A417T	MYOF_uc001kio.3_Missense_Mutation_p.A417T|MYOF_uc001kip.4_Missense_Mutation_p.A417T|MYOF_uc009xuf.2_Missense_Mutation_p.A399T	NM_013451	NP_038479	Q9NZM1	MYOF_HUMAN	Homo sapiens myoferlin (MYOF), transcript variant 1, mRNA.	417	C2 3.				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TCTGGGTTTGCATTTTTCTCA	0.294000														40			4		0	0	1	0	0
ZNF608	57507	broad.mit.edu	37	5	123982844	123982844	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:123982844A>G	uc003ktq.1	-	3	3416	c.3233T>C	c.(3232-3234)cTt>cCt	p.L1078P	ZNF608_uc003ktr.1_Intron|ZNF608_uc003kts.1_Missense_Mutation_p.L1078P|ZNF608_uc003ktt.1_Missense_Mutation_p.L1078P|ZNF608_uc003ktp.1_5'Flank	NM_020747	NP_065798	Q9ULD9	ZN608_HUMAN	Homo sapiens zinc finger protein 608 (ZNF608), mRNA.	1078						intracellular	zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		GCCATAATAAAGTGACTGAGC	0.483000														34			21		0	0	1	0	0
PPP1R3C	5507	broad.mit.edu	37	10	93390465	93390465	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:93390465A>G	uc001kho.3	-	1	305	c.173T>C	c.(172-174)cTg>cCg	p.L58P		NM_005398	NP_005389	Q9UQK1	PPR3C_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3C (PPP1R3C), mRNA.	58							protein serine/threonine phosphatase activity			breast(1)|endometrium(1)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(1)	12		Colorectal(252;0.235)				ACATGATTTCAGGGGCTTTAA	0.448000														173			12		0	0	1	0	0
NOL6	65083	broad.mit.edu	37	9	33466321	33466321	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:33466321C>T	uc003zsz.3	-	16	2295	c.2194G>A	c.(2194-2196)Gtg>Atg	p.V732M	NOL6_uc003zsy.3_5'Flank|NOL6_uc003zta.3_Intron|NOL6_uc010mjv.3_Missense_Mutation_p.V729M|NOL6_uc011lob.2_Missense_Mutation_p.V680M|NOL6_uc003ztb.1_Missense_Mutation_p.V732M	NM_022917	NP_075068	Q9H6R4	NOL6_HUMAN	Homo sapiens nucleolar protein family 6 (RNA-associated) (NOL6), transcript variant alpha, mRNA.	732					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)		ATGGGCTCCACGTAGGCCGGA	0.612000											OREG0019137	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		76			7		0	0	1	0	0
TEX14	56155	broad.mit.edu	37	17	56647841	56647841	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:56647841C>A	uc010dcz.2	-	25	3978	c.3860G>T	c.(3859-3861)aGa>aTa	p.R1287I	TEX14_uc002iwr.2_Missense_Mutation_p.R1281I|TEX14_uc002iws.2_Missense_Mutation_p.R1241I|TEX14_uc010dda.2_Missense_Mutation_p.R1021I	NM_001201457	NP_001188386	Q8IWB6	TEX14_HUMAN	Homo sapiens testis expressed 14 (TEX14), transcript variant 3, mRNA.	1287						cytoplasm	ATP binding|protein kinase activity			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGAAGACAATCTTTTCTATAA	0.443000														48			6		0.0381472	0.0388409	1	1	0
C1orf131	128061	broad.mit.edu	37	1	231362753	231362753	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:231362753A>G	uc001hul.3	-	3	609	c.572T>C	c.(571-573)cTg>cCg	p.L191P	C1orf131_uc001hum.3_Missense_Mutation_p.L190P|C1orf131_uc001hun.1_Missense_Mutation_p.L191P|C1orf131_uc010pwd.1_Missense_Mutation_p.L190P	NM_152379	NP_689592	Q8NDD1	CA131_HUMAN	Homo sapiens chromosome 1 open reading frame 131 (C1orf131), mRNA.	191										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	8	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)				TTCCTGTTCCAGGATTCTCTC	0.483000														45			20		0	0	1	0	0
KDM4B	23030	broad.mit.edu	37	19	5032937	5032937	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:5032937C>A	uc010xim.2	+	1	144	c.36C>A	c.(34-36)agC>agA	p.S12R	KDM4B_uc010xil.1_Missense_Mutation_p.S12R|KDM4B_uc002mbq.4_Missense_Mutation_p.S12R	NM_015015	NP_055830	O94953	KDM4B_HUMAN	Homo sapiens lysine (K)-specific demethylase 4B (KDM4B), mRNA.	12					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	p.P11P(1)		breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						AGAACCCCAGCTGTAAAATCA	0.592000														134			10		9.70103e-10	1.16071e-09	1	1	0
EPX	8288	broad.mit.edu	37	17	56271114	56271114	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:56271114C>T	uc002ivq.3	+	3	505	c.386C>T	c.(385-387)gCc>gTc	p.A129V		NM_000502	NP_000493	P11678	PERE_HUMAN	Homo sapiens eosinophil peroxidase (EPX), mRNA.	129					hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48						CTGTCCCAGGCCAGTGGCTGT	0.632000														12			4		0	0	1	0	0
FICD	11153	broad.mit.edu	37	12	108913162	108913162	+	Silent	SNP	G	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:108913162G>C	uc001tmx.1	+	2	1433	c.1287G>C	c.(1285-1287)ctG>ctC	p.L429L		NM_007076	NP_009007	Q9BVA6	FICD_HUMAN	Homo sapiens FIC domain containing (FICD), mRNA.	429					negative regulation of Rho GTPase activity	integral to membrane	binding|protein adenylyltransferase activity			NS(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|upper_aerodigestive_tract(2)	15						TGGACACCCTGCTTTTTGCCA	0.557000														23			9		0	0	1	0	0
UGT2B15	7366	broad.mit.edu	37	4	69535723	69535723	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:69535723T>C	uc021xow.1	-	0	772	c.614A>G	c.(613-615)cAa>cGa	p.Q205R		NM_001076	NP_001067	P54855	UDB15_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B15 (UGT2B15), mRNA.	205					steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity										GAAAATCATTTGATCACTTAA	0.343000														127			33		0	0	1	0	0
GP6	51206	broad.mit.edu	37	19	55526304	55526304	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:55526304G>A	uc002qik.3	-	7	1033	c.1005C>T	c.(1003-1005)cgC>cgT	p.R335R	GP6_uc002qil.3_Missense_Mutation_p.R337W|GP6_uc010esq.3_Silent_p.R317R	NM_016363	NP_057447	Q9HCN6	GPVI_HUMAN	Homo sapiens glycoprotein VI (platelet) (GP6), transcript variant 2, mRNA.	335			R -> G (in dbSNP:rs1654412).		enzyme linked receptor protein signaling pathway|leukocyte migration|platelet activation	integral to plasma membrane	collagen binding|transmembrane receptor activity			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19			BRCA - Breast invasive adenocarcinoma(297;0.156)	GBM - Glioblastoma multiforme(193;0.0515)		AACATAACCCGCGGCTGTGAA	0.642000														17			10		0	0	1	0	0
ZNF658	26149	broad.mit.edu	37	9	40773300	40773300	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:40773300C>T	uc004abs.2	-	4	2127	c.1975G>A	c.(1975-1977)Gaa>Aaa	p.E659K	ZNF658_uc010mmm.2_Intron|ZNF658_uc010mmn.1_Missense_Mutation_p.E659K	NM_033160	NP_149350	Q5TYW1	ZN658_HUMAN	Homo sapiens zinc finger protein 658 (ZNF658), mRNA.	659					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Y658C(1)		breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		TCATTACATTCATAGGGTTTC	0.418000														136			53		0	0	1	0	0
LGR5	8549	broad.mit.edu	37	12	71918256	71918256	+	Splice_Site	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:71918256C>T	uc001swl.3	+	3	404	c.356_splice	c.e3+1	p.L119_splice	LGR5_uc001swm.3_Splice_Site_p.L119_splice|LGR5_uc021rar.1_Splice_Site_p.L119_splice|LGR5_uc001swn.1_Splice_Site	NM_003667	NP_003658	O75473	LGR5_HUMAN	Homo sapiens leucine-rich repeat containing G protein-coupled receptor 5 (LGR5), mRNA.	119						integral to plasma membrane	protein-hormone receptor activity		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						TCTTAAAGTTCTGTAAGTAAA	0.393000														42			18		0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40419877	40419877	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:40419877G>A	uc002omp.4	-	5	3125	c.3117C>T	c.(3115-3117)ggC>ggT	p.G1039G		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	1039	VWFD 2.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TTGCTCCACAGCCGGGCCTCG	0.622000														28			15		0	0	1	0	0
ZNF41	7592	broad.mit.edu	37	X	47308164	47308164	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:47308164G>T	uc004dhs.4	-	3	1198	c.1131C>A	c.(1129-1131)gtC>gtA	p.V377V	ZNF41_uc004dhu.4_Silent_p.V369V|ZNF41_uc004dht.4_Silent_p.V249V|ZNF41_uc004dhv.4_Silent_p.V345V|ZNF41_uc004dhw.4_Silent_p.V337V|ZNF41_uc004dhy.4_Silent_p.V335V|ZNF41_uc004dhx.4_Silent_p.V335V|ZNF41_uc011mlm.2_Silent_p.V249V	NM_153380	NP_700359	P51814	ZNF41_HUMAN	Homo sapiens zinc finger protein 41 (ZNF41), transcript variant 2, mRNA.	377						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24		all_lung(315;0.000129)				TGAGGGTAAAGACTTTCCCAC	0.408000														105			35		2.1956e-27	2.88479e-27	1	1	0
CELSR2	1952	broad.mit.edu	37	1	109794054	109794054	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:109794054C>T	uc001dxa.4	+	0	1414	c.1353C>T	c.(1351-1353)gcC>gcT	p.A451A		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 2 (flamingo homolog, Drosophila) (CELSR2), mRNA.	451	Cadherin 3.				Wnt receptor signaling pathway|dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent	cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		ATCTGGATGCCCAGACTGGAG	0.572000														169			91		0	0	1	0	0
ZBED4	9889	broad.mit.edu	37	22	50279298	50279298	+	Missense_Mutation	SNP	C	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:50279298C>G	uc003bix.2	+	1	2458	c.1988C>G	c.(1987-1989)gCt>gGt	p.A663G	ZBED4_uc021wrx.1_Missense_Mutation_p.A663G	NM_014838	NP_055653	O75132	ZBED4_HUMAN	Homo sapiens zinc finger, BED-type containing 4 (ZBED4), mRNA.	663						cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		AGTCTCATAGCTGAAATGATT	0.458000														81			9		0	0	1	0	0
APBB2	323	broad.mit.edu	37	4	40823961	40823961	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:40823961C>T	uc003gvn.3	-	16	2669	c.2039G>A	c.(2038-2040)cGc>cAc	p.R680H	APBB2_uc010ifu.3_Missense_Mutation_p.R251H|APBB2_uc003gvl.3_Missense_Mutation_p.R679H|APBB2_uc003gvm.3_Missense_Mutation_p.R657H|APBB2_uc003gvk.3_Missense_Mutation_p.R131H|APBB2_uc021xnt.1_Missense_Mutation_p.R131H	NM_004307	NP_004298	Q92870	APBB2_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family B, member 2 (APBB2), transcript variant 1, mRNA.	679	PID 2.				cell cycle arrest|intracellular signal transduction|negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|regulation of transcription, DNA-dependent	growth cone|lamellipodium|membrane|nucleus|synapse	beta-amyloid binding|transcription factor binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						GCACTCAAAGCGCTGGTTCCC	0.552000														30			22		0	0	1	0	0
TRHDE	29953	broad.mit.edu	37	12	73012803	73012803	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:73012803C>A	uc001sxa.3	+	12	2349	c.2319C>A	c.(2317-2319)aaC>aaA	p.N773K		NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	Homo sapiens thyrotropin-releasing hormone degrading enzyme (TRHDE), mRNA.	773					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						GCATGGAAAACTACAACATTT	0.333000														25			14		2.23348e-06	2.52156e-06	1	1	0
CPZ	8532	broad.mit.edu	37	4	8608505	8608505	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:8608505G>A	uc003glm.3	+	5	1122	c.948G>A	c.(946-948)gcG>gcA	p.A316A	CPZ_uc003gll.3_Non-coding_Transcript|CPZ_uc003glo.3_Silent_p.A305A|CPZ_uc003gln.3_Silent_p.A179A	NM_001014447	NP_001014448	Q66K79	CBPZ_HUMAN	Homo sapiens carboxypeptidase Z (CPZ), transcript variant 1, mRNA.	316					Wnt receptor signaling pathway|proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding	p.A316T(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GGCAGAACGCGCAGAACCTGG	0.662000														37			25		0	0	1	0	0
ABCC1	4363	broad.mit.edu	37	16	16225792	16225792	+	Splice_Site	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:16225792G>T	uc010bvi.3	+	27	4141	c.3966_splice	c.e27+1	p.K1322_splice	ABCC1_uc010bvj.3_Splice_Site_p.K1263_splice|ABCC1_uc010bvk.3_Splice_Site_p.K1266_splice|ABCC1_uc010bvl.3_Splice_Site_p.K1322_splice|ABCC1_uc010bvm.3_Splice_Site_p.K1207_splice|ABCC1_uc002del.4_Splice_Site_p.K1216_splice|ABCC1_uc021tds.1_Splice_Site|ABCC1_uc021tdt.1_Splice_Site	NM_004996	NP_004987	P33527	MRP1_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 1 (ABCC1), transcript variant 1, mRNA.	1322	ABC transporter 2.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	GGGGAGAAAAGGTGGGTACAC	0.597000														21			13		2.61681e-11	3.19342e-11	1	1	0
KNDC1	85442	broad.mit.edu	37	10	135015155	135015155	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:135015155A>G	uc001llz.1	+	16	3141	c.3140A>G	c.(3139-3141)cAg>cGg	p.Q1047R	KNDC1_uc001lma.1_Missense_Mutation_p.Q982R|KNDC1_uc001lmb.1_Missense_Mutation_p.Q459R	NM_152643	NP_689856	Q76NI1	VKIND_HUMAN	Homo sapiens kinase non-catalytic C-lobe domain (KIND) containing 1 (KNDC1), transcript variant 1, mRNA.	1047					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		AGAGCGCAGCAGCCTGAGGCT	0.667000														24			13		0	0	1	0	0
CSF1R	1436	broad.mit.edu	37	5	149441346	149441346	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:149441346C>T	uc003lrl.3	-	10	1888	c.1693G>A	c.(1693-1695)Gac>Aac	p.D565N	CSF1R_uc011dcd.2_Missense_Mutation_p.D417N|CSF1R_uc010jhc.3_Non-coding_Transcript|CSF1R_uc003lrm.3_Missense_Mutation_p.D565N	NM_005211	NP_005202	P07333	CSF1R_HUMAN	Homo sapiens colony stimulating factor 1 receptor (CSF1R), mRNA.	565					cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	TGCGTGGGGTCGATGAAAGTA	0.552000														75			43		0	0	1	0	0
CNOT1	23019	broad.mit.edu	37	16	58609021	58609021	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:58609021G>T	uc002env.3	-	14	2010	c.1717C>A	c.(1717-1719)Ctg>Atg	p.L573M	CNOT1_uc002enw.3_Non-coding_Transcript|CNOT1_uc002enu.4_Missense_Mutation_p.L573M|CNOT1_uc002enx.3_Missense_Mutation_p.L573M|CNOT1_uc002enz.1_Missense_Mutation_p.L2M	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 1 (CNOT1), transcript variant 1, mRNA.	573					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		CCATTTAGCAGCATTGACAAG	0.393000														93			7		0.000274275	0.000294507	1	1	0
ZZEF1	23140	broad.mit.edu	37	17	4027225	4027225	+	Missense_Mutation	SNP	G	T	T	rs78111743	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:4027225G>T	uc002fxe.3	-	1	539	c.475C>A	c.(475-477)Cta>Ata	p.L159I	ZZEF1_uc002fxk.1_Missense_Mutation_p.L159I	NM_015113	NP_055928	O43149	ZZEF1_HUMAN	Homo sapiens zinc finger, ZZ-type with EF-hand domain 1 (ZZEF1), mRNA.	159							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						CAGGCCTGTAGTTGTCTGATG	0.478000														17			12		0.00136819	0.00144449	1	1	0
KCNJ14	3770	broad.mit.edu	37	19	48967961	48967961	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:48967961G>A	uc002pje.1	+	2	1643	c.1238G>A	c.(1237-1239)gGg>gAg	p.G413E	KCNJ14_uc002pjf.1_Missense_Mutation_p.G413E	NM_013348	NP_733838	Q9UNX9	IRK14_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 14 (KCNJ14), transcript variant 1, mRNA.	413						voltage-gated potassium channel complex	inward rectifier potassium channel activity			cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|skin(2)|urinary_tract(1)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000109)|all cancers(93;0.000129)|Epithelial(262;0.0081)|GBM - Glioblastoma multiforme(486;0.0222)		GAAGGGAATGGGGTGGAAACA	0.552000														43			27		0	0	1	0	0
MME	4311	broad.mit.edu	37	3	154802023	154802023	+	Nonsense_Mutation	SNP	C	T	T	rs150836510		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:154802023C>T	uc010hvr.1	+	1	278	c.67C>T	c.(67-69)Cga>Tga	p.R23*	MME_uc003fab.1_Nonsense_Mutation_p.R23*|MME_uc003fac.1_Nonsense_Mutation_p.R23*|MME_uc003fad.1_Nonsense_Mutation_p.R23*|MME_uc003fae.1_Nonsense_Mutation_p.R23*	NM_007289	NP_009220	P08473	NEP_HUMAN	Homo sapiens membrane metallo-endopeptidase (MME), transcript variant 2b, mRNA.	23					cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	p.R23*(2)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	GAAGAAACAGCGATGGACTCC	0.433000														78			39		0	0	1	0	0
RPL10	6134	broad.mit.edu	37	X	153628932	153628932	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153628932C>T	uc004fkm.2	+	5	645	c.457C>T	c.(457-459)Cgc>Tgc	p.R153C	AK307233_uc010nuv.2_5'Flank|RPL10_uc004fko.2_Intron|RPL10_uc004fkn.1_Missense_Mutation_p.R153C|RPL10_uc004fkq.1_Intron|RPL10_uc004fkr.1_Missense_Mutation_p.R78C	NM_006013	NP_006004	P27635	RL10_HUMAN	Homo sapiens ribosomal protein L10 (RPL10), transcript variant 1, mRNA.	153					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|endoplasmic reticulum	structural constituent of ribosome			large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGAGGCCCTGCGCAGGGCCAA	0.572000														48			25		0	0	1	0	0
ZNF169	169841	broad.mit.edu	37	9	97062159	97062159	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:97062159C>A	uc022bki.1	+	3	377	c.322C>A	c.(322-324)Ctc>Atc	p.L108I	ZNF169_uc004aum.1_Missense_Mutation_p.L107I	NM_194320	NP_919301	Q14929	ZN169_HUMAN	Homo sapiens zinc finger protein 169 (ZNF169), mRNA.	107						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	24		Acute lymphoblastic leukemia(62;0.136)				CTCGCAGCTCCTCAGACAATA	0.498000														42			4		0.150653	0.152248	1	1	0
LPAL2	80350	broad.mit.edu	37	6	160887854	160887854	+	RNA	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:160887854G>A	uc003qtj.2	-	9		c.1701C>T								Homo sapiens lipoprotein, Lp(a)-like 2, pseudogene (LPAL2), transcript variant 2, non-coding RNA.											large_intestine(1)|lung(4)	5		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.214)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)		ttgtccttgcgatagtttgct	0.498000														9			4		0	0	1	0	0
XAGE5	170627	broad.mit.edu	37	X	52844174	52844174	+	Silent	SNP	C	T	T	rs146352090		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:52844174C>T	uc004drd.1	+	3	302	c.237C>T	c.(235-237)tgC>tgT	p.C79C		NM_130775	NP_570131	Q8WWM1	GAGD5_HUMAN	Homo sapiens X antigen family, member 5 (XAGE5), mRNA.	79										endometrium(1)|large_intestine(1)|lung(5)|ovary(1)	8						GGGATGAATGCGGAGATAGTC	0.438000														38			21		0	0	1	0	0
WAC	51322	broad.mit.edu	37	10	28899640	28899640	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:28899640C>T	uc001iuf.3	+	8	1266	c.1178C>T	c.(1177-1179)gCt>gTt	p.A393V	WAC_uc001iud.3_Missense_Mutation_p.A348V|WAC_uc001iue.3_Missense_Mutation_p.A83V|WAC_uc001iug.3_Missense_Mutation_p.A290V|WAC_uc001iuh.3_Missense_Mutation_p.A345V	NM_016628	NP_057712	Q9BTA9	WAC_HUMAN	Homo sapiens WW domain containing adaptor with coiled-coil (WAC), transcript variant 1, mRNA.	393					cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nuclear speck	RNA polymerase II core binding|chromatin binding			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						CTTACAGCAGCTGTGACACAA	0.383000														84			46		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9067202	9067202	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9067202C>A	uc002mkp.3	-	2	20448	c.20244G>T	c.(20242-20244)caG>caT	p.Q6748H		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	6750	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.Q6748*(1)		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						TAAATGTGCCCTGTGATGTAG	0.493000														238			22		6.44725e-10	7.73661e-10	1	1	0
WWC3	55841	broad.mit.edu	37	X	10098024	10098024	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:10098024G>A	uc004csx.4	+	17	2659	c.2461G>A	c.(2461-2463)Ggc>Agc	p.G821S	WWC3_uc010nds.3_Missense_Mutation_p.G485S|WWC3_uc010ndt.3_Non-coding_Transcript	NM_015691	NP_056506	Q9ULE0	WWC3_HUMAN	Homo sapiens WWC family member 3 (WWC3), mRNA.	821										NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						GGTGGATAGCGGCTGTAGCAA	0.577000														53			36		0	0	1	0	0
VWA3A	146177	broad.mit.edu	37	16	22134955	22134955	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:22134955C>T	uc010vbq.2	+	15	1555	c.1459C>T	c.(1459-1461)Cgg>Tgg	p.R487W	VWA3A_uc010bxd.3_Non-coding_Transcript|VWA3A_uc010bxc.2_Missense_Mutation_p.R495W	NM_173615	NP_775886	A6NCI4	VWA3A_HUMAN	Homo sapiens von Willebrand factor A domain containing 3A (VWA3A), mRNA.	487						extracellular region				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		CAGAGCTATGCGGATGTATGA	0.547000														79			45		0	0	1	0	0
VCAN	1462	broad.mit.edu	37	5	82837275	82837275	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:82837275C>T	uc003kii.3	+	7	8809	c.8453C>T	c.(8452-8454)gCg>gTg	p.A2818V	VCAN_uc003kij.3_Missense_Mutation_p.A1831V|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Missense_Mutation_p.A1482V	NM_004385	NP_004376	P13611	CSPG2_HUMAN	Homo sapiens versican (VCAN), transcript variant 1, mRNA.	2818	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		TCAACATTTGCGAAGTTGTCT	0.493000														75			16		0	0	1	0	0
ZSCAN1	284312	broad.mit.edu	37	19	58549309	58549309	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58549309A>G	uc002qrc.1	+	2	352	c.105A>G	c.(103-105)gaA>gaG	p.E35E	ZSCAN1_uc002qra.1_Silent_p.E35E|ZSCAN1_uc002qrb.1_Silent_p.E35E	NM_182572	NP_872378	Q8NBB4	ZSCA1_HUMAN	Homo sapiens zinc finger and SCAN domain containing 1 (ZSCAN1), mRNA.	35					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		GGGACACCGAAGCCCAGCGTC	0.716000														10			3		0	0	1	0	0
CHD3	1107	broad.mit.edu	37	17	7802784	7802784	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7802784C>T	uc002gjd.2	+	14	2646	c.2644C>T	c.(2644-2646)Cgg>Tgg	p.R882W	CHD3_uc002gje.2_Missense_Mutation_p.R823W|CHD3_uc002gjf.2_Missense_Mutation_p.R823W	NM_001005271	NP_001005271	Q12873	CHD3_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 3 (CHD3), transcript variant 3, mRNA.	823	Helicase ATP-binding.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	NuRD complex|microtubule organizing center	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				CAAGGACAGCCGGGCCATCAT	0.498000														113			63		0	0	1	0	0
LRPPRC	10128	broad.mit.edu	37	2	44209388	44209388	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:44209388G>A	uc002rtr.2	-	1	393	c.335C>T	c.(334-336)aCc>aTc	p.T112I	LRPPRC_uc010yob.1_Intron|LRPPRC_uc010faw.1_Missense_Mutation_p.T86I	NM_133259	NP_573566	P42704	LPPRC_HUMAN	Homo sapiens leucine-rich PPR-motif containing (LRPPRC), mRNA.	112					mRNA transport|mitochondrion transport along microtubule|regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm	RNA binding|beta-tubulin binding|microtubule binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TGAGCGGCAGGTATCATTAAA	0.428000														38			30		0	0	1	0	0
PVRL1	5818	broad.mit.edu	37	11	119510623	119510623	+	Missense_Mutation	SNP	A	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:119510623A>T	uc001pwu.1	-	5	1275	c.1103T>A	c.(1102-1104)tTc>tAc	p.F368Y		NM_203285	NP_976030	Q15223	PVRL1_HUMAN	Homo sapiens poliovirus receptor-related 1 (herpesvirus entry mediator C) (PVRL1), transcript variant 2, mRNA.	24					adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response	cell-cell adherens junction|extracellular region|integral to membrane	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)		GTTGTACAGGAAGAAGACAGT	0.647000														27			12		0	0	1	0	0
LYST	1130	broad.mit.edu	37	1	235827839	235827839	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:235827839G>A	uc001hxj.2	-	50	11296	c.11121C>T	c.(11119-11121)tcC>tcT	p.S3707S	LYST_uc001hxi.2_Silent_p.S931S	NM_000081	NP_000072	Q99698	LYST_HUMAN	Homo sapiens lysosomal trafficking regulator (LYST), mRNA.	3707					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			AGAAAGCCACGGAACAGATGA	0.478000														34			32		0	0	1	0	0
ANKRD46	157567	broad.mit.edu	37	8	101541754	101541754	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:101541754A>C	uc003yjo.1	-	3	617	c.308T>G	c.(307-309)aTt>aGt	p.I103S	ANKRD46_uc003yjm.3_Missense_Mutation_p.I103S|ANKRD46_uc003yjn.1_Missense_Mutation_p.I103S|ANKRD46_uc003yjp.1_Missense_Mutation_p.I103S	NM_198401	NP_940683	Q86W74	ANR46_HUMAN	Homo sapiens ankyrin repeat domain 46 (ANKRD46), mRNA.	103						integral to membrane				kidney(1)|large_intestine(2)|lung(4)	7	all_cancers(14;5.07e-05)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000353)|all_lung(17;0.000998)		Epithelial(11;2.61e-11)|all cancers(13;5.03e-09)|OV - Ovarian serous cystadenocarcinoma(57;4.49e-06)|STAD - Stomach adenocarcinoma(118;0.0957)			AACTTACCAAATATCAATTTT	0.373000														54			4		0	0	1	0	0
TMPRSS3	64699	broad.mit.edu	37	21	43795969	43795969	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:43795969G>A	uc002zbb.2	-	11	1404	c.1203C>T	c.(1201-1203)agC>agT	p.S401S	TMPRSS3_uc002zay.2_Silent_p.S158S|TMPRSS3_uc002zaz.2_Silent_p.S274S|TMPRSS3_uc002zba.2_Silent_p.S274S|TMPRSS3_uc002zbc.2_Silent_p.S400S	NM_024022	NP_076927	P57727	TMPS3_HUMAN	Homo sapiens transmembrane protease, serine 3 (TMPRSS3), transcript variant A, mRNA.	401	Peptidase S1.				cellular sodium ion homeostasis|proteolysis	endoplasmic reticulum membrane|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity|sodium channel regulator activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1)	13						GGGGCCCCCCGCTGTCCCCCT	0.597000														108			59		0	0	1	0	0
CNOT1	23019	broad.mit.edu	37	16	58559183	58559183	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:58559183C>T	uc002env.3	-	45	6977	c.6684G>A	c.(6682-6684)gcG>gcA	p.A2228A	CNOT1_uc002enw.3_Non-coding_Transcript|CNOT1_uc002enu.4_Silent_p.A2223A|CNOT1_uc002ent.3_Silent_p.A166A|CNOT1_uc010vik.2_Silent_p.A1185A	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 1 (CNOT1), transcript variant 1, mRNA.	2228					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol		p.A2228A(2)		breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		TGTGGATGTGCGCAATGGCCT	0.493000														46			18		0	0	1	0	0
CDC42BPB	9578	broad.mit.edu	37	14	103442282	103442282	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:103442282G>A	uc001ymi.1	-	9	1557	c.1325C>T	c.(1324-1326)gCt>gTt	p.A442V		NM_006035	NP_006026	Q9Y5S2	MRCKB_HUMAN	Homo sapiens CDC42 binding protein kinase beta (DMPK-like) (CDC42BPB), mRNA.	442					actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		CCTCTCGTAAGCTTCCATCTG	0.592000														41			32		0	0	1	0	0
WDR47	22911	broad.mit.edu	37	1	109554001	109554001	+	Missense_Mutation	SNP	T	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:109554001T>A	uc001dwl.3	-	4	1064	c.688A>T	c.(688-690)Agc>Tgc	p.S230C	WDR47_uc001dwi.3_Missense_Mutation_p.S223C|WDR47_uc001dwj.3_Missense_Mutation_p.S223C|WDR47_uc001dwk.2_Missense_Mutation_p.S195C|WDR47_uc010ovf.2_Missense_Mutation_p.S150C	NM_001142550	NP_001136022	O94967	WDR47_HUMAN	Homo sapiens WD repeat domain 47 (WDR47), transcript variant 1, mRNA.	223										breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		AGCACTTCGCTTTCTGTAATT	0.383000														317			17		0	0	1	0	0
RECQL5	9400	broad.mit.edu	37	17	73627598	73627598	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:73627598G>T	uc010dgl.3	-	8	1589	c.1380C>A	c.(1378-1380)ccC>ccA	p.P460P	RECQL5_uc010dgk.3_Silent_p.P433P|RECQL5_uc002jot.4_5'Flank|C17orf109_uc002jow.2_5'Flank	NM_004259	NP_004250	O94762	RECQ5_HUMAN	Homo sapiens RecQ protein-like 5 (RECQL5), transcript variant 1, mRNA.	460					DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding			breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			TCCCCTGGGAGGGCCCGATGC	0.687000								Other identified genes with known or suspected DNA repair function						42			27		7.92952e-12	9.72855e-12	1	1	0
PLXNA1	5361	broad.mit.edu	37	3	126708301	126708301	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:126708301G>A	uc003ejg.3	+	0	865	c.865G>A	c.(865-867)Gac>Aac	p.D289N		NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	Homo sapiens plexin A1 (PLXNA1), mRNA.	289	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		CTGTGTGGACGACCCCAAATT	0.622000														108			62		0	0	1	0	0
KIAA1407	57577	broad.mit.edu	37	3	113684177	113684177	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:113684177C>T	uc003eax.3	-	16	2783	c.2636G>A	c.(2635-2637)tGg>tAg	p.W879*		NM_020817	NP_065868	Q8NCU4	K1407_HUMAN	Homo sapiens KIAA1407 (KIAA1407), mRNA.	879										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						AAACTTCTTCCATGTCCGAAG	0.373000														106			10		0	0	1	0	0
ZNF687	57592	broad.mit.edu	37	1	151261878	151261878	+	Silent	SNP	C	T	T	rs146722973	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:151261878C>T	uc001exq.3	+	4	2594	c.2496C>T	c.(2494-2496)tgC>tgT	p.C832C	ZNF687_uc009wmo.3_Silent_p.C832C|ZNF687_uc009wmp.3_Silent_p.C832C	NM_020832	NP_065883	Q8N1G0	ZN687_HUMAN	Homo sapiens zinc finger protein 687 (ZNF687), mRNA.	832					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GCGCCATGTGCGACACAGTCT	0.602000														36			39		0	0	1	0	0
KIAA2022	340533	broad.mit.edu	37	X	73960955	73960955	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:73960955G>T	uc004eby.3	-	2	4054	c.3437C>A	c.(3436-3438)tCt>tAt	p.S1146Y		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	Homo sapiens KIAA2022 (KIAA2022), mRNA.	1146					DNA replication proofreading|DNA replication, removal of RNA primer|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						CAGGCTGACAGAATCCTCATC	0.393000														67			50		5.13769e-22	6.66732e-22	1	1	0
SOAT2	8435	broad.mit.edu	37	12	53516913	53516913	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:53516913G>A	uc001sbv.3	+	12	1373	c.1285G>A	c.(1285-1287)Gtc>Atc	p.V429I	SOAT2_uc009zms.3_Non-coding_Transcript	NM_003578	NP_003569	O75908	SOAT2_HUMAN	Homo sapiens sterol O-acyltransferase 2 (SOAT2), mRNA.	429					cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|macrophage derived foam cell differentiation|very-low-density lipoprotein particle assembly	brush border|endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol O-acyltransferase activity|cholesterol binding|fatty-acyl-CoA binding			endometrium(5)|kidney(3)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	18						TGTGTTCCTGGTCTCCGCAGT	0.572000														33			20		0	0	1	0	0
FGFR2	2263	broad.mit.edu	37	10	123310926	123310926	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:123310926C>T	uc021pzz.1	-	4	1149	c.502G>A	c.(502-504)Gct>Act	p.A168T	FGFR2_uc021pzv.1_Missense_Mutation_p.A168T|FGFR2_uc021pzw.1_Missense_Mutation_p.A53T|FGFR2_uc021pzx.1_Missense_Mutation_p.A79T|FGFR2_uc021pzy.1_Missense_Mutation_p.A168T|FGFR2_uc010qtl.2_Missense_Mutation_p.A168T|FGFR2_uc010qtm.2_Missense_Mutation_p.A53T|FGFR2_uc021qaa.1_Missense_Mutation_p.A168T|FGFR2_uc021qab.1_Missense_Mutation_p.A79T|FGFR2_uc021qac.1_Missense_Mutation_p.A98T|FGFR2_uc001lfn.4_Non-coding_Transcript|FGFR2_uc010qtn.2_Missense_Mutation_p.A187T|FGFR2_uc010qto.2_Missense_Mutation_p.A72T|FGFR2_uc001lfo.1_Missense_Mutation_p.A187T|FGFR2_uc010qtp.2_Missense_Mutation_p.A187T|FGFR2_uc010qtq.2_Missense_Mutation_p.A187T	NM_000141	NP_000132	P21802	FGFR2_HUMAN	Homo sapiens fibroblast growth factor receptor 2 (FGFR2), transcript variant 1, mRNA.	168	Heparin-binding.|Ig-like C2-type 2.				angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding			breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)	GCAGGCACAGCATGGAGCCGC	0.517000		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome					45			6		0	0	1	0	0
ATP5G2	517	broad.mit.edu	37	12	54062936	54062936	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:54062936C>T	uc001sec.3	-	3	611	c.478G>A	c.(478-480)Gcc>Acc	p.A160T	ATP5G2_uc001sed.3_Missense_Mutation_p.A119T|ATP5G2_uc009znc.3_Missense_Mutation_p.A103T	NM_005176	NP_005167	Q06055	AT5G2_HUMAN	Homo sapiens ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C2 (subunit 9) (ATP5G2), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	103					ATP hydrolysis coupled proton transport|ATP synthesis coupled proton transport	integral to membrane|mitochondrial proton-transporting ATP synthase complex|proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transmembrane transporter activity|lipid binding			kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	6						TCTTACCTGGCATAACCAATG	0.498000														45			12		0	0	1	0	0
SUV39H1	6839	broad.mit.edu	37	X	48557420	48557420	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:48557420C>T	uc004dkn.3	+	1	192	c.147C>T	c.(145-147)tgC>tgT	p.C49C	SUV39H1_uc011mmf.2_Silent_p.C60C|SUV39H1_uc011mmg.2_Non-coding_Transcript	NM_003173	NP_003164	O43463	SUV91_HUMAN	Homo sapiens suppressor of variegation 3-9 homolog 1 (Drosophila) (SUV39H1), mRNA.	49	Chromo.|Interaction with SIRT1.				cell cycle|cell differentiation|chromatin silencing at rDNA|interspecies interaction between organisms|rRNA processing|transcription, DNA-dependent	chromatin silencing complex|chromosome, centromeric region|condensed nuclear chromosome|rDNA heterochromatin	chromatin binding|histone methyltransferase activity (H3-K9 specific)|protein N-terminus binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14						AGTACCTGTGCGATTACAAGA	0.572000														15			5		0	0	1	0	0
POLR3A	11128	broad.mit.edu	37	10	79777428	79777428	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:79777428A>G	uc001jzn.3	-	9	1469	c.1336T>C	c.(1336-1338)Tat>Cat	p.Y446H		NM_007055	NP_008986	O14802	RPC1_HUMAN	Homo sapiens polymerase (RNA) III (DNA directed) polypeptide A, 155kDa (POLR3A), mRNA.	446					innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			ATGTCACCATACTTGAGCTCT	0.443000														59			58		0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152718083	152718083	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:152718083G>A	uc021zhb.1	-	47	7606	c.7383C>T	c.(7381-7383)agC>agT	p.S2461S	SYNE1_uc003qot.4_Silent_p.S2468S|SYNE1_uc003qou.4_Silent_p.S2461S|SYNE1_uc010kjb.1_Silent_p.S2444S	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	2461					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	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)		CATCAAGTTTGCTCTGCCCAT	0.383000										HNSCC(10;0.0054)				69			32		0	0	1	0	0
SLC4A11	83959	broad.mit.edu	37	20	3214251	3214251	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:3214251A>G	uc010zqe.2	-	6	892	c.767T>C	c.(766-768)gTg>gCg	p.V256A	SLC4A11_uc002wig.3_Missense_Mutation_p.V229A|SLC4A11_uc002wih.3_Non-coding_Transcript|SLC4A11_uc010zqf.2_Missense_Mutation_p.V213A	NM_001174090	NP_001167561	Q8NBS3	S4A11_HUMAN	Homo sapiens solute carrier family 4, sodium borate transporter, member 11 (SLC4A11), transcript variant 1, mRNA.	229					cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						GCTGATGCACACGTGCCGCTT	0.642000														33			5		0	0	1	0	0
EPHB2	2048	broad.mit.edu	37	1	23111440	23111440	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:23111440G>A	uc009vqj.1	+	2	827	c.682G>A	c.(682-684)Gcc>Acc	p.A228T	EPHB2_uc001bge.3_Missense_Mutation_p.A228T|EPHB2_uc001bgf.3_Missense_Mutation_p.A228T|EPHB2_uc010odu.2_Missense_Mutation_p.A228T	NM_017449	NP_059145	P29323	EPHB2_HUMAN	Homo sapiens EPH receptor B2 (EPHB2), transcript variant 1, mRNA.	228	Cys-rich.				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		CAGCTGCATCGCCAATGCGGA	0.632000														42			25		0	0	1	0	0
JAG1	182	broad.mit.edu	37	20	10628720	10628720	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:10628720G>A	uc002wnw.2	-	12	2124	c.1608C>T	c.(1606-1608)aaC>aaT	p.N536N	JAG1_uc010gcd.1_Silent_p.N94N	NM_000214	NP_000205	P78504	JAG1_HUMAN	Homo sapiens jagged 1 (JAG1), mRNA.	536	EGF-like 9.				Notch receptor processing|Notch signaling pathway|angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	Notch binding|calcium ion binding|growth factor activity|structural molecule activity			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						ACTGGGCACCGTTCTGGCAGG	0.517000									Alagille Syndrome					32			14		0	0	1	0	0
OCRL	4952	broad.mit.edu	37	X	128692974	128692974	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:128692974T>C	uc004euq.3	+	7	883	c.718T>C	c.(718-720)Ttc>Ctc	p.F240L	OCRL_uc004eur.3_Missense_Mutation_p.F240L	NM_000276	NP_000267	Q01968	OCRL_HUMAN	Homo sapiens oculocerebrorenal syndrome of Lowe (OCRL), transcript variant a, mRNA.	240					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	Golgi stack|Golgi-associated vesicle|clathrin-coated vesicle|cytosol|early endosome	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						CATTCAGACTTTCAGGTTAGT	0.398000														99			9		0	0	1	0	0
HGD	3081	broad.mit.edu	37	3	120365896	120365896	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:120365896G>A	uc003edw.3	-	7	933	c.473C>T	c.(472-474)cCg>cTg	p.P158L	HGD_uc003edv.3_Missense_Mutation_p.P17L	NM_000187	NP_000178	Q93099	HGD_HUMAN	Homo sapiens homogentisate 1,2-dioxygenase (HGD), mRNA.	158					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	homogentisate 1,2-dioxygenase activity|metal ion binding			cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25				GBM - Glioblastoma multiforme(114;0.158)		CCCTTTCTGCGGAACTGACAA	0.448000														42			25		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140250150	140250150	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140250150C>T	uc003lia.2	+	0	2320	c.1462C>T	c.(1462-1464)Ctg>Ttg	p.L488L	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc011dae.2_Silent_p.L488L	NM_018902	NP_061725	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 11 (PCDHA11), transcript variant 1, mRNA.	503	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)			GGAGAACGCGCTGGTGTCCTA	0.677000														65			34		0	0	1	0	0
ACTB	60	broad.mit.edu	37	7	5568063	5568063	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:5568063G>A	uc003sot.4	-	3	735	c.651C>T	c.(649-651)tgC>tgT	p.C217C	ACTB_uc003sor.4_Silent_p.C95C|ACTB_uc003soq.4_Silent_p.C95C	NM_001101	NP_001092	P60709	ACTB_HUMAN	Homo sapiens actin, beta (ACTB), mRNA.	217					'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	MLL5-L complex|NuA4 histone acetyltransferase complex|cytoskeleton|cytosol|ribonucleoprotein complex	ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		GGGCGACGTAGCACAGCTTCT	0.592000														34			59		0	0	1	0	0
BAI1	575	broad.mit.edu	37	8	143623496	143623496	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:143623496G>A	uc003ywm.3	+	26	4084	c.3901G>A	c.(3901-3903)Gac>Aac	p.D1301N		NM_001702	NP_001693	O14514	BAI1_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 1 (BAI1), mRNA.	1301					axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding	p.P1300S(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					GCCCCTGCCCGACTTCCCCAA	0.647000														18			16		0	0	1	0	0
PTCHD1	139411	broad.mit.edu	37	X	23398059	23398059	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:23398059G>A	uc004dal.4	+	1	711	c.703G>A	c.(703-705)Gac>Aac	p.D235N	PTCHD1_uc010nfu.2_Missense_Mutation_p.D235N	NM_173495	NP_775766	Q96NR3	PTHD1_HUMAN	Homo sapiens patched domain containing 1 (PTCHD1), mRNA.	235					cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						CAGCTTCTGCGACACTGTCAG	0.512000														160			101		0	0	1	0	0
FGFR3	2261	broad.mit.edu	37	4	1808273	1808273	+	Splice_Site	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:1808273C>T	uc003gdr.3	+	16	2287	c.2031_splice	c.e16-1	p.V677_splice	FGFR3_uc003gdu.2_Splice_Site_p.V679_splice|FGFR3_uc003gds.3_Splice_Site_p.V565_splice|FGFR3_uc003gdq.3_Splice_Site_p.L655_splice	NM_000142	NP_000133	P22607	FGFR3_HUMAN	Homo sapiens fibroblast growth factor receptor 3 (FGFR3), transcript variant 1, mRNA.	677	Protein kinase.				JAK-STAT cascade|MAPKKK cascade|bone maturation|cell growth|insulin receptor signaling pathway|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding			NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	TCCCCTGCAGCTGGTCCTTTG	0.672000		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome					23			18		0	0	1	0	0
AACS	65985	broad.mit.edu	37	12	125587292	125587292	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:125587292A>C	uc001uhc.3	+	5	844	c.638A>C	c.(637-639)aAt>aCt	p.N213T	AACS_uc009zyg.2_Non-coding_Transcript|AACS_uc001uhd.3_Missense_Mutation_p.N213T|AACS_uc009zyh.3_Non-coding_Transcript|AACS_uc009zyi.3_5'Flank	NM_023928	NP_076417	Q86V21	AACS_HUMAN	Homo sapiens acetoacetyl-CoA synthetase (AACS), mRNA.	213					fatty acid metabolic process	cytosol	ATP binding|acetoacetate-CoA ligase activity			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)		GTTGTCTATAATGGCAAAGAG	0.517000														104			78		0	0	1	0	0
NLGN4X	57502	broad.mit.edu	37	X	5821215	5821215	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:5821215T>C	uc010ndi.3	-	5	2079	c.1615A>G	c.(1615-1617)Atc>Gtc	p.I539V	NLGN4X_uc004crp.3_Missense_Mutation_p.I522V|NLGN4X_uc010ndh.3_Missense_Mutation_p.I502V|NLGN4X_uc004crq.3_Missense_Mutation_p.I502V|NLGN4X_uc004crr.3_Missense_Mutation_p.I502V|NLGN4X_uc010ndj.3_Missense_Mutation_p.I502V	NM_181332	NP_851849	Q8N0W4	NLGNX_HUMAN	Homo sapiens neuroligin 4, X-linked (NLGN4X), transcript variant 2, mRNA.	502					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						GTGGGACCGATCATGGGGATG	0.532000														36			26		0	0	1	0	0
C16orf79	283870	broad.mit.edu	37	16	2260576	2260576	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:2260576C>T	uc010bsh.3	-	1	362	c.127G>A	c.(127-129)Gct>Act	p.A43T	C16orf79_uc002cpi.2_Missense_Mutation_p.A43T	NM_182563	NP_872369	Q6PL45	CP079_HUMAN	Homo sapiens chromosome 16 open reading frame 79 (C16orf79), mRNA.	43						integral to membrane				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	7						ACCCCCACAGCGGCcagcacc	0.657000														10			8		0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55539476	55539476	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:55539476C>A	uc003xsd.1	+	3	3182	c.3034C>A	c.(3034-3036)Ctg>Atg	p.L1012M	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	1012					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GGTTGGATCTCTGAATGATGC	0.388000														183			84		2.99311e-26	3.92483e-26	1	1	0
ZBTB20	26137	broad.mit.edu	37	3	114070389	114070389	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:114070389A>G	uc003ebi.3	-	3	716	c.536T>C	c.(535-537)aTc>aCc	p.I179T	ZBTB20_uc003ebj.3_Missense_Mutation_p.I106T|ZBTB20_uc010hqp.3_Missense_Mutation_p.I106T|ZBTB20_uc003ebk.3_Missense_Mutation_p.I106T|ZBTB20_uc003ebl.3_Missense_Mutation_p.I106T|ZBTB20_uc003ebm.3_Missense_Mutation_p.I106T|ZBTB20_uc003ebn.3_Missense_Mutation_p.I106T|ZBTB20-AS1_uc003ebo.2_5'Flank	NM_001164342	NP_056457	Q9HC78	ZBT20_HUMAN	Homo sapiens zinc finger and BTB domain containing 20 (ZBTB20), transcript variant 1, mRNA.	179					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		GATCTGCAGGATGCTGGCGGC	0.597000														41			5		0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36898233	36898233	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:36898233G>T	uc003cgj.3	-	11	3096	c.2848C>A	c.(2848-2850)Cgc>Agc	p.R950S		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	950					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding	p.R400S(2)|p.R950S(1)		NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						ACATAGCAGCGAGGTATACGC	0.498000														102			83		4.05715e-38	5.38707e-38	1	1	0
KIAA1217	56243	broad.mit.edu	37	10	24809090	24809090	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:24809090C>A	uc001iru.4	+	10	2619	c.2216C>A	c.(2215-2217)tCc>tAc	p.S739Y	KIAA1217_uc001irs.3_Missense_Mutation_p.S659Y|KIAA1217_uc001irt.4_Missense_Mutation_p.S704Y|KIAA1217_uc010qcy.2_Missense_Mutation_p.S704Y|KIAA1217_uc010qcz.2_Missense_Mutation_p.S704Y|KIAA1217_uc001irv.1_Missense_Mutation_p.S554Y|KIAA1217_uc010qda.1_Intron|KIAA1217_uc001irw.3_Missense_Mutation_p.S422Y|KIAA1217_uc001irz.3_Missense_Mutation_p.S422Y|KIAA1217_uc001irx.3_Missense_Mutation_p.S422Y|KIAA1217_uc001iry.3_Missense_Mutation_p.S422Y	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	739					embryonic skeletal system development	cytoplasm		p.D738Y(1)		breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						AAGAAGGACTCCACGGCAGCC	0.542000														84			56		6.83704e-37	9.0719e-37	1	1	0
UBR5	51366	broad.mit.edu	37	8	103354859	103354859	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:103354859C>T	uc003ykr.2	-	8	1395	c.940G>A	c.(940-942)Gtt>Att	p.V314I	UBR5_uc003yks.2_Missense_Mutation_p.V314I	NM_015902	NP_056986	O95071	UBR5_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 5 (UBR5), mRNA.	314					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	RNA binding|protein binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			AAACGTAAAACGGATTCACGT	0.458000														64			29		0	0	1	0	0
RAPGEF4	11069	broad.mit.edu	37	2	173825907	173825907	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:173825907C>T	uc002uhv.4	+	7	836	c.649C>T	c.(649-651)Cga>Tga	p.R217*	RAPGEF4_uc002uhu.2_Nonsense_Mutation_p.R217*|RAPGEF4_uc002uhw.4_Nonsense_Mutation_p.R73*|RAPGEF4_uc010zec.1_Nonsense_Mutation_p.R64*|RAPGEF4_uc010zed.1_Nonsense_Mutation_p.R46*|RAPGEF4_uc010zee.1_Nonsense_Mutation_p.R64*|RAPGEF4_uc010fqo.2_Nonsense_Mutation_p.R46*|RAPGEF4_uc010zef.1_5'UTR|RAPGEF4_uc010zeg.1_Nonsense_Mutation_p.R44*|RAPGEF4_uc010fqp.1_5'UTR|RAPGEF4_uc010zeh.1_5'UTR	NM_007023	NP_008954	Q8WZA2	RPGF4_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 4 (RAPGEF4), transcript variant 1, mRNA.	217	DEP.				G-protein coupled receptor protein signaling pathway|blood coagulation|energy reserve metabolic process|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex|membrane fraction|plasma membrane	Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity|cAMP binding|cAMP-dependent protein kinase regulator activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			CATTCTCTCTCGAGCACCTCA	0.433000														48			37		0	0	1	0	0
KIAA1804	84451	broad.mit.edu	37	1	233518142	233518142	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:233518142A>G	uc001hvt.4	+	9	3057	c.2796A>G	c.(2794-2796)tcA>tcG	p.S932S	KIAA1804_uc001hvu.4_Silent_p.S378S	NM_032435	NP_115811	Q5TCX8	M3KL4_HUMAN	Homo sapiens mixed lineage kinase 4 (KIAA1804), mRNA.	932					activation of JUN kinase activity|protein autophosphorylation		ATP binding|MAP kinase kinase kinase activity|protein homodimerization activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|large_intestine(18)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(4)	52		all_cancers(173;0.000405)|all_epithelial(177;0.0345)|Prostate(94;0.122)				GGGAGGTCTCACCCAAGAAGC	0.592000														49			11		0	0	1	0	0
SNRNP70	6625	broad.mit.edu	37	19	49610962	49610962	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:49610962G>A	uc002pmk.3	+	8	1097	c.658G>A	c.(658-660)Gat>Aat	p.D220N	SNRNP70_uc002pmh.2_Non-coding_Transcript|SNRNP70_uc002pmm.3_Non-coding_Transcript|SNRNP70_uc021uxh.1_Silent_p.T6T	NM_003089	NP_003080	P08621	RU17_HUMAN	Homo sapiens small nuclear ribonucleoprotein 70kDa (U1) (SNRNP70), mRNA.	220					nuclear mRNA splicing, via spliceosome|regulation of RNA splicing	nucleoplasm|spliceosomal complex	RNA binding|nucleotide binding|protein binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|skin(2)	12						CTCCCGCTACGATGAGAGGTA	0.677000														16			21		0	0	1	0	0
RASA2	5922	broad.mit.edu	37	3	141292883	141292883	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:141292883G>A	uc010huq.1	+	13	1457	c.1457G>A	c.(1456-1458)aGg>aAg	p.R486K	RASA2_uc003etz.1_Missense_Mutation_p.R486K|RASA2_uc003eua.1_Missense_Mutation_p.R486K|RASA2_uc011bnc.1_Missense_Mutation_p.R78K	NM_006506	NP_006497	Q15283	RASA2_HUMAN	Homo sapiens RAS p21 protein activator 2 (RASA2), mRNA.	486	Ras-GAP.				intracellular signal transduction|negative regulation of Ras protein signal transduction	intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm	Ras GTPase activator activity|metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						TATTCTCTAAGGCAGATGGCT	0.328000														23			14		0	0	1	0	0
SACS	26278	broad.mit.edu	37	13	23905914	23905914	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:23905914G>T	uc001uon.2	-	9	12690	c.12101C>A	c.(12100-12102)gCc>gAc	p.A4034D	SACS_uc001uoo.2_Missense_Mutation_p.A3887D|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA.	4034					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|Hsp70 protein binding|chaperone binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AAGTCTTATGGCTTTTTCTTC	0.353000														44			20		1.10513e-12	1.3661e-12	1	1	0
PTF1A	256297	broad.mit.edu	37	10	23482768	23482768	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:23482768G>T	uc001irp.3	+	1	920	c.920G>T	c.(919-921)aGa>aTa	p.R307I		NM_178161	NP_835455	Q7RTS3	PTF1A_HUMAN	Homo sapiens pancreas specific transcription factor, 1a (PTF1A), mRNA.	307					endocrine pancreas development|exocrine pancreas development|regulation of transcription, DNA-dependent|tissue development|transcription, DNA-dependent	cytoplasm|transcription factor complex				endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1)	7						GAGGACCCCAGAAAACTCAAC	0.453000														85			55		1.53716e-24	2.00769e-24	1	1	0
LRBA	987	broad.mit.edu	37	4	151791759	151791759	+	Splice_Site	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:151791759C>A	uc010ipj.3	-	20	2612	c.2368_splice	c.e20-1	p.I790_splice	LRBA_uc003ilu.4_Splice_Site_p.I790_splice	NM_006726	NP_006717	P50851	LRBA_HUMAN	Homo sapiens LPS-responsive vesicle trafficking, beach and anchor containing (LRBA), transcript variant 2, mRNA.	790						Golgi apparatus|endoplasmic reticulum|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					CTATAAGAATCTACAGAAGTA	0.313000														62			5		0.000602214	0.000641151	1	1	0
ADCY4	196883	broad.mit.edu	37	14	24798658	24798658	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:24798658G>A	uc001wow.3	-	8	1718	c.1299C>T	c.(1297-1299)gaC>gaT	p.D433D	ADCY4_uc010toh.2_Silent_p.D119D|ADCY4_uc001wox.3_Silent_p.D433D|ADCY4_uc001woy.3_Silent_p.D433D	NM_001198568	NP_001185497	Q8NFM4	ADCY4_HUMAN	Homo sapiens adenylate cyclase 4 (ADCY4), transcript variant 3, mRNA.	433					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	ATP binding|adenylate cyclase activity|metal ion binding|protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		GAAGGTAGGGGTCCCGATGCT	0.632000														38			14		0	0	1	0	0
LRRC7	57554	broad.mit.edu	37	1	70555435	70555435	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:70555435C>A	uc001dep.3	+	22	4394	c.4364C>A	c.(4363-4365)cCt>cAt	p.P1455H	LRRC7_uc009wbg.3_Missense_Mutation_p.P739H|LRRC7_uc001deq.3_Missense_Mutation_p.P649H	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	Homo sapiens leucine rich repeat containing 7 (LRRC7), mRNA.	1455	PDZ.					centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						GAAAAGAATCCTGGCCTTGGA	0.294000														54			5		1.06961e-07	1.2399e-07	1	1	0
MDN1	23195	broad.mit.edu	37	6	90428292	90428292	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:90428292T>C	uc003pnn.1	-	42	6492	c.6376A>G	c.(6376-6378)Agg>Ggg	p.R2126G		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	Homo sapiens MDN1, midasin homolog (yeast) (MDN1), mRNA.	2126					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		AACAGTGCCCTTACAGTTCCC	0.463000														46			19		0	0	1	0	0
RGS3	5998	broad.mit.edu	37	9	116346483	116346483	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:116346483C>T	uc004bhq.3	+	20	3000	c.2791C>T	c.(2791-2793)Ctg>Ttg	p.L931L	RGS3_uc004bhs.3_Silent_p.L821L|RGS3_uc004bht.3_Silent_p.L650L|RGS3_uc010muy.3_Intron|RGS3_uc004bhv.3_Silent_p.L252L|RGS3_uc010muz.1_Silent_p.L270L|RGS3_uc004bhw.3_Intron|RGS3_uc011lxh.2_Silent_p.L252L|RGS3_uc004bhx.3_Silent_p.L252L|RGS3_uc004bhy.1_Silent_p.L241L|RGS3_uc004bhz.3_Silent_p.L273L	NM_144488	NP_652759	P49796	RGS3_HUMAN	Homo sapiens regulator of G-protein signaling 3 (RGS3), transcript variant 6, mRNA.	931					inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						TGGCCTCTCACTGCGTGTGCA	0.672000														36			26		0	0	1	0	0
ST8SIA2	8128	broad.mit.edu	37	15	92988138	92988138	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:92988138G>A	uc002bra.3	+	4	976	c.821G>A	c.(820-822)cGc>cAc	p.R274H	ST8SIA2_uc002brb.3_Missense_Mutation_p.R253H	NM_006011	NP_006002	Q92186	SIA8B_HUMAN	Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2 (ST8SIA2), mRNA.	274					N-glycan processing|axon guidance|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1)	20	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)			CCCTCGCTGCGCCTGCTGCAC	0.622000														48			19		0	0	1	0	0
ALDH1L2	160428	broad.mit.edu	37	12	105420437	105420437	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:105420437T>C	uc001tlc.3	-	21	2729	c.2602A>G	c.(2602-2604)Atg>Gtg	p.M868V	ALDH1L2_uc009zuo.3_Missense_Mutation_p.M323V|ALDH1L2_uc009zup.3_Non-coding_Transcript	NM_001034173	NP_001029345	Q3SY69	AL1L2_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member L2 (ALDH1L2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	868	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process|biosynthetic process	mitochondrion	acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity|phosphopantetheine binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						CTCACATACATAGCTTTGTTT	0.423000														195			34		0	0	1	0	0
NRIP1	8204	broad.mit.edu	37	21	16338404	16338404	+	Nonsense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:16338404C>A	uc021whl.1	-	0	2110	c.2110G>T	c.(2110-2112)Gaa>Taa	p.E704*	NRIP1_uc002yjx.2_Nonsense_Mutation_p.E704*	NM_003489	NP_003480	P48552	NRIP1_HUMAN	Homo sapiens nuclear receptor interacting protein 1 (NRIP1), mRNA.	704					androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity			cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		AGCAGATTTTCTATTTCAGAA	0.408000														47			29		1.75199e-13	2.18028e-13	1	1	0
DOCK6	57572	broad.mit.edu	37	19	11322803	11322803	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:11322803C>T	uc002mqs.4	-	35	4557	c.4516G>A	c.(4516-4518)Gtc>Atc	p.V1506I	DOCK6_uc010xlq.2_Missense_Mutation_p.V845I	NM_020812	NP_065863	Q96HP0	DOCK6_HUMAN	Homo sapiens dedicator of cytokinesis 6 (DOCK6), mRNA.	1506	DHR-2.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						GACATGGTGACCTGCATCTTC	0.592000														17			6		0	0	1	0	0
CDH12	1010	broad.mit.edu	37	5	21975343	21975343	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:21975343C>T	uc010iuc.2	-	2	841	c.383G>A	c.(382-384)cGt>cAt	p.R128H	CDH12_uc011cno.1_Missense_Mutation_p.R128H|CDH12_uc003jgk.2_Missense_Mutation_p.R128H	NM_004061	NP_004052	P55289	CAD12_HUMAN	Homo sapiens cadherin 12, type 2 (N-cadherin 2) (CDH12), mRNA.	128	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						AGCCTGAGCACGAAGAGTGTA	0.443000										HNSCC(59;0.17)				40			32		0	0	1	0	0
BPIFB1	92747	broad.mit.edu	37	20	31873891	31873891	+	Silent	SNP	G	A	A	rs34388907	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:31873891G>A	uc002wyw.1	+	1	173	c.12G>A	c.(10-12)ccG>ccA	p.P4P	BPIFB1_uc010gej.1_Silent_p.P4P	NM_033197	NP_149974	Q8TDL5	LPLC1_HUMAN	Homo sapiens BPI fold containing family B, member 1 (BPIFB1), mRNA.	4						extracellular space	lipid binding										TGGCCGGCCCGTGGACCTTCA	0.617000														33			21		0	0	1	0	0
KRT73	319101	broad.mit.edu	37	12	53005048	53005048	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:53005048G>A	uc001sas.3	-	5	1085	c.1050C>T	c.(1048-1050)atC>atT	p.I350I		NM_175068	NP_778238	Q86Y46	K2C73_HUMAN	Homo sapiens keratin 73 (KRT73), mRNA.	350	Coil 2.|Rod.					keratin filament	structural molecule activity	p.I350I(2)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		TCAGCTCTGAGATCTCATTTT	0.527000														49			25		0	0	1	0	0
PCSK5	5125	broad.mit.edu	37	9	78973785	78973785	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:78973785G>A	uc004akc.2	+	36	6068	c.5530G>A	c.(5530-5532)Gat>Aat	p.D1844N		NM_001190482	NP_001177411	Q92824	PCSK5_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 5 (PCSK5), transcript variant 1, mRNA.	0					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	Golgi lumen|extracellular space|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						GCTGGATGACGATGACATAGA	0.493000														40			14		0	0	1	0	0
SGK2	10110	broad.mit.edu	37	20	42213499	42213499	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:42213499C>A	uc002xkv.3	+	11	1346	c.1127C>A	c.(1126-1128)cCt>cAt	p.P376H	SGK2_uc002xkr.3_Missense_Mutation_p.P316H|SGK2_uc010ggm.3_3'UTR|SGK2_uc002xkt.3_Non-coding_Transcript|SGK2_uc002xku.3_Missense_Mutation_p.P316H	NM_016276	NP_733794	Q9HBY8	SGK2_HUMAN	Homo sapiens serum/glucocorticoid regulated kinase 2 (SGK2), transcript variant 2, mRNA.	376	AGC-kinase C-terminal.				intracellular protein kinase cascade|response to oxidative stress		ATP binding|potassium channel regulator activity|protein serine/threonine kinase activity|sodium channel regulator activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			CAGACAGGACCTGCTGACTTG	0.542000														123			42		9.39024e-22	1.21676e-21	1	1	0
AKR1CL1	340811	broad.mit.edu	37	10	5204849	5204849	+	RNA	SNP	G	A	A	rs140274935		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:5204849G>A	uc009xhz.2	-	1		c.311C>T								Homo sapiens aldo-keto reductase family 1, member C-like 1 (AKR1CL1), non-coding RNA.											cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	6						CTCTCTTGACGGTACCATCAG	0.418000														177			25		0	0	1	0	0
DNASE1L3	1776	broad.mit.edu	37	3	58179141	58179141	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:58179141C>T	uc003djo.1	-	6	827	c.730G>A	c.(730-732)Gtc>Atc	p.V244I	DNASE1L3_uc011bfd.1_Missense_Mutation_p.V214I|DNASE1L3_uc003djp.1_Missense_Mutation_p.V244I|DNASE1L3_uc003djq.1_Missense_Mutation_p.V244I	NM_004944	NP_004935	Q13609	DNSL3_HUMAN	Homo sapiens deoxyribonuclease I-like 3 (DNASE1L3), mRNA.	244					DNA catabolic process|apoptosis	nucleus	DNA binding|calcium ion binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters			breast(2)|large_intestine(4)|lung(6)	12				BRCA - Breast invasive adenocarcinoma(55;0.00021)|KIRC - Kidney renal clear cell carcinoma(284;0.0445)|Kidney(284;0.0556)|OV - Ovarian serous cystadenocarcinoma(275;0.202)		ACAGAACTGACGATTTCTTGT	0.438000														33			23		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179574469	179574469	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179574469G>A	uc021vsy.1	-	95	25070	c.24845C>T	c.(24844-24846)gCc>gTc	p.A8282V	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.A4943V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	9209	Ig-like 65.						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)			TTTGTACCAGGCAACAGTTAT	0.403000														57			28		0	0	1	0	0
MLLT4	4301	broad.mit.edu	37	6	168276093	168276093	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:168276093G>T	uc021zik.1	+	4	853	c.534G>T	c.(532-534)gaG>gaT	p.E178D	MLLT4_uc003qwb.1_Missense_Mutation_p.E218D|MLLT4_uc003qwc.2_Missense_Mutation_p.E219D|MLLT4_uc021zij.1_Missense_Mutation_p.E218D	NM_001040000	NP_001035089	P55196	AFAD_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (MLLT4), transcript variant 2, mRNA.	219					adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		CTAATCCTGAGGTGGTTATGA	0.423000			T	MLL	AL									203			20		1.33834e-09	1.59673e-09	1	1	0
RFWD2	64326	broad.mit.edu	37	1	176105629	176105629	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:176105629C>T	uc001gku.1	-	6	1142	c.886G>A	c.(886-888)Gtg>Atg	p.V296M	RFWD2_uc001gkv.1_Intron|RFWD2_uc001gkw.1_Missense_Mutation_p.V56M|RFWD2_uc009wwv.2_Missense_Mutation_p.V56M|RFWD2_uc001gkt.1_Intron	NM_022457	NP_071902	Q8NHY2	RFWD2_HUMAN	Homo sapiens ring finger and WD repeat domain 2 (RFWD2), transcript variant 1, mRNA.	296					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	centrosome|cytosol|focal adhesion|nuclear speck	protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.R295T(1)		endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						CTTACTTCCACTCTCTTAATA	0.343000														26			7		0	0	1	0	0
CDKL4	344387	broad.mit.edu	37	2	39440541	39440541	+	Splice_Site	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:39440541G>A	uc010fal.2	-	3	363	c.363_splice	c.e3+1	p.N121_splice	CDKL4_uc002rrm.3_Splice_Site_p.N121_splice	NM_001009565	NP_001009565	Q5MAI5	CDKL4_HUMAN	Homo sapiens cyclin-dependent kinase-like 4 (CDKL4), mRNA.	121	Protein kinase.					cytoplasm	ATP binding|cyclin-dependent protein kinase activity			breast(1)|large_intestine(2)|liver(1)|lung(7)|ovary(1)	12		all_hematologic(82;0.248)				TGTTACTTACGTTATGTATAT	0.328000														32			25		0	0	1	0	0
STRADB	55437	broad.mit.edu	37	2	202343240	202343240	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:202343240G>A	uc002uyd.4	+	9	1351	c.986G>A	c.(985-987)cGa>cAa	p.R329Q	STRADB_uc021vvb.1_Missense_Mutation_p.R329Q	NM_018571	NP_061041	Q9C0K7	STRAB_HUMAN	Homo sapiens STE20-related kinase adaptor beta (STRADB), transcript variant 1, mRNA.	329	Protein kinase.				activation of protein kinase activity|cell cycle arrest|insulin receptor signaling pathway|protein export from nucleus|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|protein binding|protein kinase activity			breast(1)|large_intestine(2)|lung(5)|prostate(1)|skin(3)|stomach(1)	13						AATAGTGACCGATTACACACA	0.418000														31			11		0	0	1	0	0
UBA7	7318	broad.mit.edu	37	3	49847552	49847552	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49847552G>A	uc003cxr.3	-	13	1869	c.1698C>T	c.(1696-1698)ggC>ggT	p.G566G		NM_003335	NP_003326	P41226	UBA7_HUMAN	Homo sapiens ubiquitin-like modifier activating enzyme 7 (UBA7), mRNA.	566	2 approximate repeats.				ISG15-protein conjugation|negative regulation of type I interferon production	cytosol	ATP binding|ISG15 activating enzyme activity|ligase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		TGCCCCAGGTGCCCGATGTGC	0.607000														32			8		0	0	1	0	0
AGXT2L1	64850	broad.mit.edu	37	4	109681035	109681035	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:109681035C>A	uc003hzc.3	-	2	386	c.205G>T	c.(205-207)Gct>Tct	p.A69S	AGXT2L1_uc010imc.3_Missense_Mutation_p.A63S|AGXT2L1_uc011cfm.2_Missense_Mutation_p.A29S|AGXT2L1_uc011cfn.2_5'UTR|AGXT2L1_uc011cfo.2_Missense_Mutation_p.A11S	NM_031279	NP_112569	Q8TBG4	AT2L1_HUMAN	Homo sapiens alanine-glyoxylate aminotransferase 2-like 1 (AGXT2L1), transcript variant 1, mRNA.	69					cellular amino acid metabolic process	mitochondrion	alanine-glyoxylate transaminase activity|pyridoxal phosphate binding			autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(1)	25				OV - Ovarian serous cystadenocarcinoma(123;0.000281)		TTCAGGGCAGCTTTGACCACT	0.423000														28			12		9.16793e-09	1.08001e-08	1	1	0
TMCO4	255104	broad.mit.edu	37	1	20097881	20097881	+	Nonsense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:20097881C>A	uc001bcn.3	-	4	516	c.274G>T	c.(274-276)Gga>Tga	p.G92*	TMCO4_uc001bco.1_Nonsense_Mutation_p.G92*|TMCO4_uc001bcp.1_Nonsense_Mutation_p.G92*|TMCO4_uc009vpn.1_Nonsense_Mutation_p.G92*|TMCO4_uc001bcq.1_Nonsense_Mutation_p.G92*	NM_181719	NP_859070	Q5TGY1	TMCO4_HUMAN	Homo sapiens transmembrane and coiled-coil domains 4 (TMCO4), mRNA.	92						integral to membrane				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)		CCTTCACCTCCCAGGCCGCTC	0.537000														31			17		0.000422831	0.000453626	1	1	0
TCRA	0	broad.mit.edu	37	14	22592047	22592047	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:22592047C>A	uc001wdd.2	+	1	279	c.132C>A	c.(130-132)atC>atA	p.I44I	TCRA_uc001wbw.2_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Intron|TCRA_uc001wco.3_Intron|TCRA_uc010aje.1_Intron|TCRA_uc001wcp.2_Intron|TCRA_uc001wcr.1_Intron|TCRA_uc001wcs.1_Intron|TCRA_uc010ajf.1_Intron|TCRA_uc001wcu.4_Intron|TCRA_uc021rpn.1_Intron|TCRA_uc001wcx.4_Intron|TCRA_uc021rpr.1_Intron|TCRA_uc010ajj.1_Silent_p.I44I|TCRA_uc001wde.1_Silent_p.I18I|TCRA_uc010aji.1_Silent_p.I44I					Homo sapiens TRA mRNA for T cell receptor alpha chain, partial cds, allele:TRAV19*01+TRAJ53*01.																		ACTCTACCATCAGTGGAAATG	0.453000														62			37		1.90571e-15	2.4006e-15	1	1	0
PSKH2	85481	broad.mit.edu	37	8	87076754	87076754	+	Nonsense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:87076754C>A	uc011lfy.2	-	1	292	c.292G>T	c.(292-294)Gag>Tag	p.E98*		NM_033126	NP_149117	Q96QS6	KPSH2_HUMAN	Homo sapiens protein serine kinase H2 (PSKH2), mRNA.	98	Protein kinase.						ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|kidney(11)|large_intestine(2)|lung(26)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(1)	47			STAD - Stomach adenocarcinoma(118;0.129)			CCTTCCCTCTCTCTGGTTTCC	0.502000														61			29		7.38237e-10	8.84762e-10	1	1	0
MYB	4602	broad.mit.edu	37	6	135515004	135515004	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:135515004C>T	uc003qfh.3	+	6	990	c.791C>T	c.(790-792)gCg>gTg	p.A264V	MYB_uc003qfp.3_Non-coding_Transcript|MYB_uc003qfn.3_Non-coding_Transcript|MYB_uc003qfk.3_Non-coding_Transcript|MYB_uc003qfc.3_Missense_Mutation_p.A264V|MYB_uc003qfr.3_Non-coding_Transcript|MYB_uc003qft.3_Non-coding_Transcript|MYB_uc003qfs.3_5'UTR|MYB_uc003qfw.3_Missense_Mutation_p.A76V|MYB_uc010kgi.3_Missense_Mutation_p.A264V|MYB_uc003qfq.3_Missense_Mutation_p.A264V|MYB_uc010kgj.3_Missense_Mutation_p.A264V|MYB_uc003qfo.3_Missense_Mutation_p.A264V|MYB_uc003qfu.3_Missense_Mutation_p.A264V|MYB_uc003qfy.3_Non-coding_Transcript|MYB_uc003qfl.3_Non-coding_Transcript|MYB_uc003qfv.3_Non-coding_Transcript|MYB_uc003qfz.3_Non-coding_Transcript|MYB_uc003qfx.3_Non-coding_Transcript|MYB_uc003qga.3_Non-coding_Transcript|MYB_uc003qgb.3_Non-coding_Transcript|MYB_uc010kgk.3_Non-coding_Transcript|MYB_uc003qfd.3_Non-coding_Transcript|MYB_uc003qfi.3_Missense_Mutation_p.A264V|MYB_uc003qfe.3_Non-coding_Transcript|MYB_uc003qfg.3_Non-coding_Transcript|MYB_uc003qff.3_Non-coding_Transcript|MYB_uc003qfj.3_Non-coding_Transcript|MYB_uc003qfm.3_Non-coding_Transcript|MYB_uc003qgc.3_Non-coding_Transcript|MYB_uc003qfb.1_Missense_Mutation_p.A264V|MYB_uc003qgd.1_Missense_Mutation_p.A76V|MYB_uc003qge.1_5'Flank	NM_001130173	NP_001123645	P10242	MYB_HUMAN	Homo sapiens v-myb myeloblastosis viral oncogene homolog (avian) (MYB), transcript variant 1, mRNA.	264					blood coagulation|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of T-helper cell differentiation|positive regulation of histone H3-K4 methylation|positive regulation of histone H3-K9 methylation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear matrix	DNA binding|protein binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221)	Lung NSC(302;3.08e-05)|Ovarian(999;0.208)		OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117)		TACCCTGTAGCGTTACATGTA	0.448000			T	NFIB	adenoid cystic carcinoma									60			37		0	0	1	0	0
APBB1	322	broad.mit.edu	37	11	6417022	6417022	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6417022C>T	uc001mdb.1	-	12	2053	c.1953G>A	c.(1951-1953)gcG>gcA	p.A651A	APBB1_uc001mdd.3_Silent_p.A431A|APBB1_uc001mdc.1_Silent_p.A651A|APBB1_uc010rab.2_Silent_p.A178A|APBB1_uc001mcy.1_Missense_Mutation_p.R91H	NM_001164	NP_001155	O00213	APBB1_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65) (APBB1), transcript variant 1, mRNA.	653	PID 2.				apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		TTACCATGCACGCAGCCTGCA	0.627000														24			22		0	0	1	0	0
KIAA1217	56243	broad.mit.edu	37	10	24835130	24835130	+	Silent	SNP	C	T	T	rs138680991		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:24835130C>T	uc001iru.4	+	20	6112	c.5709C>T	c.(5707-5709)tcC>tcT	p.S1903S	KIAA1217_uc001irs.3_Silent_p.S1224S|KIAA1217_uc001irt.4_Silent_p.S1269S|KIAA1217_uc010qcy.2_Silent_p.S1334S|KIAA1217_uc010qcz.2_Silent_p.S1309S|KIAA1217_uc001irw.3_3'UTR|KIAA1217_uc001irz.3_3'UTR|KIAA1217_uc001irx.3_3'UTR|KIAA1217_uc001iry.3_3'UTR	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	1903	Ser-rich.				embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						ctgcctcctccgtctcACTGA	0.542000														18			25		0	0	1	0	0
CCDC65	85478	broad.mit.edu	37	12	49298804	49298804	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:49298804C>T	uc001rso.3	+	1	435	c.208C>T	c.(208-210)Cgg>Tgg	p.R70W		NM_033124	NP_149115	Q8IXS2	CCD65_HUMAN	Homo sapiens coiled-coil domain containing 65 (CCDC65), mRNA.	70								p.R70L(1)		breast(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	15						AACTGTCCTTCGGGAAGTCAA	0.448000														39			32		0	0	1	0	0
CPA6	57094	broad.mit.edu	37	8	68430256	68430256	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:68430256G>A	uc003xxq.4	-	2	475	c.219C>T	c.(217-219)atC>atT	p.I73I	CPA6_uc003xxr.4_Intron|CPA6_uc003xxs.2_Silent_p.I73I	NM_020361	NP_065094	Q8N4T0	CBPA6_HUMAN	Homo sapiens carboxypeptidase A6 (CPA6), mRNA.	73					proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5)	26			Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)			ATACATAGGAGATACTGCTGG	0.478000														65			7		0	0	1	0	0
PWP2	5822	broad.mit.edu	37	21	45542167	45542167	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:45542167G>T	uc002zeb.3	+	13	1836	c.1746G>T	c.(1744-1746)gaG>gaT	p.E582D		NM_005049	NP_005040	Q15269	PWP2_HUMAN	Homo sapiens PWP2 periodic tryptophan protein homolog (yeast) (PWP2), mRNA.	582						cytoplasm|nucleolus	signal transducer activity			cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	21				STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)		GCTCCATTGAGGGCAGGCATG	0.587000														29			26		1.33986e-20	1.73107e-20	1	1	0
TET3	200424	broad.mit.edu	37	2	74274917	74274917	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:74274917C>T	uc002skb.4	+	0	1468	c.1468C>T	c.(1468-1470)Cga>Tga	p.R490*	TET3_uc010fez.2_Nonsense_Mutation_p.R490*	NM_144993	NP_659430	O43151	TET3_HUMAN	Homo sapiens tet methylcytosine dioxygenase 3 (TET3), mRNA.	490							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CCCACCTGTCCGACAGATTGT	0.627000														8			7		0	0	1	0	0
DIAPH1	1729	broad.mit.edu	37	5	140967806	140967806	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140967806C>T	uc003llb.4	-	1	270	c.129G>A	c.(127-129)cgG>cgA	p.R43R	DIAPH1_uc003llc.4_Intron|DIAPH1_uc021yep.1_Silent_p.R43R|DIAPH1_uc021yeq.1_Intron	NM_005219	NP_005210	O60610	DIAP1_HUMAN	Homo sapiens diaphanous homolog 1 (Drosophila) (DIAPH1), transcript variant 1, mRNA.	43					regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	Rho GTPase binding|actin binding|receptor binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGCCATGAGCCGCTTCAGAG	0.418000														21			3		0	0	1	0	0
KLHL38	340359	broad.mit.edu	37	8	124658070	124658070	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:124658070G>T	uc003yqs.1	-	2	1679	c.1655C>A	c.(1654-1656)aCc>aAc	p.T552N		NM_001081675	NP_001075144	Q2WGJ6	KLH38_HUMAN	Homo sapiens kelch-like 38 (Drosophila) (KLHL38), mRNA.	552										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						GGATGTCCAGGTGTCCGTCTC	0.612000														62			5		1.6384e-10	1.98099e-10	1	1	0
PKHD1L1	93035	broad.mit.edu	37	8	110464461	110464461	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:110464461G>A	uc003yne.3	+	41	6563	c.6459G>A	c.(6457-6459)ggG>ggA	p.G2153G		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	2153	IPT/TIG 14.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CTCTATCAGGGTGGGCTCCAG	0.448000										HNSCC(38;0.096)				36			33		0	0	1	0	0
RNF146	81847	broad.mit.edu	37	6	127607801	127607801	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:127607801C>T	uc021zes.1	+	2	179	c.43C>T	c.(43-45)Ctt>Ttt	p.L15F	RNF146_uc021zet.1_Missense_Mutation_p.L14F|RNF146_uc021zeu.1_Missense_Mutation_p.L14F|RNF146_uc021zev.1_Missense_Mutation_p.L14F|RNF146_uc021zew.1_Missense_Mutation_p.L15F|RNF146_uc003qat.3_Missense_Mutation_p.L14F|RNF146_uc021zex.1_Missense_Mutation_p.L14F|RNF146_uc003qaw.3_Missense_Mutation_p.L14F|RNF146_uc003qau.3_Missense_Mutation_p.L14F|RNF146_uc003qav.3_Missense_Mutation_p.L15F|RNF146_uc021zey.1_Missense_Mutation_p.L14F	NM_001242851	NP_001229780	Q9NTX7	RN146_HUMAN	Homo sapiens ring finger protein 146 (RNF146), transcript variant 10, mRNA.	15					Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked ubiquitination|protein autoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytosol	poly-ADP-D-ribose binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(226;0.0407)|all cancers(137;0.2)		AATAAACATGCTTCCTACAAA	0.353000														38			24		0	0	1	0	0
ZBTB7C	201501	broad.mit.edu	37	18	45567396	45567396	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:45567396C>T	uc010dnv.3	-	2	585	c.149G>A	c.(148-150)cGg>cAg	p.R50Q	ZBTB7C_uc002ldb.3_Missense_Mutation_p.R28Q|ZBTB7C_uc010dnu.3_Missense_Mutation_p.R37Q|ZBTB7C_uc010dnw.3_Missense_Mutation_p.R28Q|ZBTB7C_uc010dnx.1_Missense_Mutation_p.R28Q|ZBTB7C_uc010dny.1_Missense_Mutation_p.R28Q|ZBTB7C_uc010dnz.1_Missense_Mutation_p.R50Q|ZBTB7C_uc010doi.1_Missense_Mutation_p.R28Q|ZBTB7C_uc010doj.1_Missense_Mutation_p.R37Q|ZBTB7C_uc010dok.1_Missense_Mutation_p.R77Q|ZBTB7C_uc010dol.1_Missense_Mutation_p.R37Q|ZBTB7C_uc010doa.1_Missense_Mutation_p.R50Q|ZBTB7C_uc010dob.1_Missense_Mutation_p.R28Q|ZBTB7C_uc010doc.1_Missense_Mutation_p.R37Q|ZBTB7C_uc010dod.1_Missense_Mutation_p.R50Q|ZBTB7C_uc010doe.1_Missense_Mutation_p.R28Q|ZBTB7C_uc010dof.1_Missense_Mutation_p.R28Q|ZBTB7C_uc010dog.1_Missense_Mutation_p.R28Q|ZBTB7C_uc010doh.1_Missense_Mutation_p.R37Q|ZBTB7C_uc010dom.1_Missense_Mutation_p.R37Q|ZBTB7C_uc010don.1_Missense_Mutation_p.R36Q|ZBTB7C_uc010dop.1_Missense_Mutation_p.R28Q|ZBTB7C_uc010doq.1_Missense_Mutation_p.R37Q|ZBTB7C_uc010dor.1_Missense_Mutation_p.R50Q|ZBTB7C_uc010dos.1_Missense_Mutation_p.R28Q|ZBTB7C_uc010dot.1_Missense_Mutation_p.R28Q|ZBTB7C_uc010doo.1_Missense_Mutation_p.R28Q|ZBTB7C_uc010dou.1_Missense_Mutation_p.R37Q	NM_001039360	NP_001034449	A1YPR0	ZBT7C_HUMAN	Homo sapiens zinc finger and BTB domain containing 7C (ZBTB7C), mRNA.	28	BTB.					intracellular	nucleic acid binding|zinc ion binding	p.R28Q(1)		endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						GCCATCGTGCCGTTGCTCATT	0.582000														25			12		0	0	1	0	0
B4GALNT2	124872	broad.mit.edu	37	17	47243497	47243497	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:47243497C>A	uc002ion.2	+	8	1215	c.1156C>A	c.(1156-1158)Ctg>Atg	p.L386M	B4GALNT2_uc010wlt.1_Missense_Mutation_p.L300M|B4GALNT2_uc010wlu.1_Missense_Mutation_p.L326M	NM_153446	NP_001152860	Q8NHY0	B4GN2_HUMAN	Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 2 (B4GALNT2), transcript variant 1, mRNA.	386					UDP-N-acetylgalactosamine metabolic process|lipid glycosylation|negative regulation of cell-cell adhesion	integral to Golgi membrane	acetylgalactosaminyltransferase activity			endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24			all cancers(6;0.000316)			TGGTAGGAACCTGGCCATATC	0.463000														27			18		1.01871e-10	1.23424e-10	1	1	0
HMX2	3167	broad.mit.edu	37	10	124909419	124909419	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:124909419G>A	uc001lhc.1	+	1	859	c.602G>A	c.(601-603)cGc>cAc	p.R201H		NM_005519	NP_005510	A2RU54	HMX2_HUMAN	Homo sapiens H6 family homeobox 2 (HMX2), mRNA.	201					cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|lung(4)|prostate(1)	7		all_neural(114;0.169)|Colorectal(57;0.207)|Glioma(114;0.222)		Colorectal(40;0.123)|COAD - Colon adenocarcinoma(40;0.141)		CAGAACCGCCGCAACAAGTGG	0.652000														10			5		0	0	1	0	0
TBC1D22A	25771	broad.mit.edu	37	22	47290699	47290699	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:47290699G>A	uc003bib.3	+	6	1023	c.857G>A	c.(856-858)cGc>cAc	p.R286H	TBC1D22A_uc010haf.3_Missense_Mutation_p.R256H|TBC1D22A_uc003bie.3_Missense_Mutation_p.R208H|TBC1D22A_uc010hag.3_Non-coding_Transcript|TBC1D22A_uc003bif.3_Missense_Mutation_p.R239H	NM_014346	NP_055161	Q8WUA7	TB22A_HUMAN	Homo sapiens TBC1 domain family, member 22A (TBC1D22A), mRNA.	286	Rab-GAP TBC.					intracellular	Rab GTPase activator activity|protein homodimerization activity			breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)		GACATCCCTCGCATGAGCCCT	0.502000														45			27		0	0	1	0	0
PRKAA1	5562	broad.mit.edu	37	5	40765006	40765006	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:40765006G>A	uc003jmb.3	-	7	1207	c.1201C>T	c.(1201-1203)Cgc>Tgc	p.R401C	PRKAA1_uc003jmc.3_Missense_Mutation_p.R386C	NM_206907	NP_996790	Q13131	AAPK1_HUMAN	Homo sapiens protein kinase, AMP-activated, alpha 1 catalytic subunit (PRKAA1), transcript variant 2, mRNA.	386					activation of MAPK activity|cell cycle arrest|cholesterol biosynthetic process|fatty acid biosynthetic process|insulin receptor signaling pathway|negative regulation of glucosylceramide biosynthetic process|positive regulation of anti-apoptosis|positive regulation of cholesterol biosynthetic process|regulation of fatty acid oxidation|response to hypoxia	cytosol	ATP binding|cAMP-dependent protein kinase activity|metal ion binding|protein binding			breast(1)	1					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Phenformin(DB00914)	AGGGTATGGCGTGCCCTTGGT	0.438000														28			23		0	0	1	0	0
ZNF598	90850	broad.mit.edu	37	16	2048278	2048278	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:2048278G>A	uc002cof.1	-	13	2685	c.2670C>T	c.(2668-2670)gaC>gaT	p.D890D	TCRBV20S1_uc021tak.1_Intron|ZNF598_uc002coe.1_Silent_p.D254D	NM_178167	NP_835461	Q86UK7	ZN598_HUMAN	Homo sapiens zinc finger protein 598 (ZNF598), mRNA.	890						intracellular	zinc ion binding	p.D890H(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						GGAAGTCGTCGTCCCGGGCAG	0.687000														120			30		0	0	1	0	0
CENPH	64946	broad.mit.edu	37	5	68490518	68490518	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:68490518G>A	uc003jvp.3	+	2	322	c.235G>A	c.(235-237)Gaa>Aaa	p.E79K	CENPH_uc010ixc.3_Missense_Mutation_p.E79K	NM_022909	NP_075060	Q9H3R5	CENPH_HUMAN	Homo sapiens centromere protein H (CENPH), mRNA.	79					CenH3-containing nucleosome assembly at centromere|cell division|chromosome segregation|kinetochore organization|mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleoplasm	kinetochore binding|protein binding	p.I78I(1)		kidney(15)|large_intestine(2)|lung(3)	20		Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.41e-56)|Epithelial(20;1.29e-52)|all cancers(19;3.15e-48)|Lung(70;0.0178)		AAAGCAAATCGAAGCGTATGT	0.279000														23			16		0	0	1	0	0
CLDN8	9073	broad.mit.edu	37	21	31588194	31588194	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:31588194C>T	uc002ynu.2	-	0	276	c.50G>A	c.(49-51)gGa>gAa	p.G17E		NM_199328	NP_955360	P56748	CLD8_HUMAN	Homo sapiens claudin 8 (CLDN8), mRNA.	17					calcium-independent cell-cell adhesion	endoplasmic reticulum|integral to membrane|tight junction	identical protein binding|structural molecule activity			NS(1)|endometrium(2)|large_intestine(6)|lung(6)	15						GCCCACCATTCCAACACCACC	0.502000														42			13		0	0	1	0	0
LAMA2	3908	broad.mit.edu	37	6	129571302	129571302	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:129571302C>A	uc021zfb.1	+	12	1933	c.1828C>A	c.(1828-1830)Ctt>Att	p.L610I	LAMA2_uc003qbn.3_Missense_Mutation_p.L610I|LAMA2_uc003qbo.3_Missense_Mutation_p.L610I	NM_000426	NP_000417	P24043	LAMA2_HUMAN	Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA.	610	Laminin IV type A 1.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		ATCATATGACCTTGAAGAAGA	0.413000														86			9		2.27111e-07	2.61452e-07	1	1	0
MYH2	4620	broad.mit.edu	37	17	10429105	10429105	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:10429105G>A	uc010coi.3	-	30	4404	c.4276C>T	c.(4276-4278)Cgg>Tgg	p.R1426W	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.R1426W|MYH2_uc010coj.3_Intron	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	1426					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TTCTGCAGCCGCTGCTTCGTC	0.512000														32			29		0	0	1	0	0
GPR158	57512	broad.mit.edu	37	10	25877997	25877997	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:25877997G>A	uc001isj.3	+	7	1875	c.1815G>A	c.(1813-1815)tcG>tcA	p.S605S		NM_020752	NP_065803	Q5T848	GP158_HUMAN	Homo sapiens G protein-coupled receptor 158 (GPR158), mRNA.	605						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						CAGTCCCATCGGCATTCCATG	0.418000														45			10		0	0	1	0	0
TCHH	7062	broad.mit.edu	37	1	152080388	152080388	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:152080388G>A	uc009wne.1	-	2	5577	c.5305C>T	c.(5305-5307)Cgc>Tgc	p.R1769C	TCHH_uc001ezp.2_Missense_Mutation_p.R1769C	NM_007113	NP_009044	Q07283	TRHY_HUMAN	Homo sapiens trichohyalin (TCHH), mRNA.	1769	23 X 26 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTTCTGTCGCGCTCCTGGCGG	0.592000														54			25		0	0	1	0	0
CHEK2	11200	broad.mit.edu	37	22	29121015	29121015	+	Missense_Mutation	SNP	C	T	T	rs121908701		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:29121015C>T	uc003adu.1	-	3	614	c.542G>A	c.(541-543)cGt>cAt	p.R181H	CHEK2_uc010gvj.1_Intron|CHEK2_uc003adr.1_Non-coding_Transcript|CHEK2_uc010gvk.1_Non-coding_Transcript|CHEK2_uc003ads.1_Intron|CHEK2_uc010gvh.1_Intron|CHEK2_uc010gvi.1_Missense_Mutation_p.R181H|CHEK2_uc003adt.1_Missense_Mutation_p.R224H|CHEK2_uc003adv.1_Missense_Mutation_p.R181H|CHEK2_uc003adx.1_5'UTR	NM_007194	NP_009125	O96017	CHK2_HUMAN	Homo sapiens checkpoint kinase 2 (CHEK2), transcript variant 1, mRNA.	181			R -> C (in prostate cancer; somatic mutation).|R -> H (in prostate cancer; somatic mutation).		DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|cell cycle|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						ATTCAAAGGACGGCGTTTTCC	0.353000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes						51			19		0	0	1	0	0
HSPA12A	259217	broad.mit.edu	37	10	118441355	118441355	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:118441355C>T	uc001lct.3	-	7	974	c.869G>A	c.(868-870)cGg>cAg	p.R290Q	HSPA12A_uc001lcu.3_Missense_Mutation_p.R207Q	NM_025015	NP_079291	O43301	HS12A_HUMAN	Homo sapiens heat shock 70kDa protein 12A (HSPA12A), mRNA.	290							ATP binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32				all cancers(201;0.0158)		CAAAAAGGTCCGACTCTGCCG	0.473000											OREG0020558	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		37			21		0	0	1	0	0
SORBS1	10580	broad.mit.edu	37	10	97096671	97096671	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:97096671C>T	uc001kkp.3	-	27	3291	c.3246G>A	c.(3244-3246)acG>acA	p.T1082T	SORBS1_uc001kkk.3_Intron|SORBS1_uc001kkl.3_Intron|SORBS1_uc001kkn.3_Intron|SORBS1_uc001kkm.3_Intron|SORBS1_uc001kko.3_Intron|SORBS1_uc001kkq.3_Intron|SORBS1_uc001kkr.3_Intron|SORBS1_uc001kks.3_Intron|SORBS1_uc001kkt.3_Intron|SORBS1_uc001kku.3_Intron|SORBS1_uc001kkv.3_Intron|SORBS1_uc001kkw.3_Silent_p.T1036T|SORBS1_uc010qoe.2_Intron	NM_001034954	NP_001030126	Q9BX66	SRBS1_HUMAN	Homo sapiens sorbin and SH3 domain containing 1 (SORBS1), transcript variant 3, mRNA.	1082					focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	SH3/SH2 adaptor activity|actin binding|insulin receptor binding			NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		CTGAAGATGGCGTGTGGACAC	0.552000														28			12		0	0	1	0	0
RALGAPA2	57186	broad.mit.edu	37	20	20661389	20661389	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:20661389A>G	uc002wrz.3	-	1	306	c.163T>C	c.(163-165)Tat>Cat	p.Y55H	RALGAPA2_uc010zsg.2_Intron	NM_020343	NP_065076	Q2PPJ7	RGPA2_HUMAN	Homo sapiens Ral GTPase activating protein, alpha subunit 2 (catalytic) (RALGAPA2), mRNA.	55					activation of Ral GTPase activity	cytosol|nucleus	Ral GTPase activator activity|protein heterodimerization activity			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						AAGATGAAATATATCTGAGAA	0.259000														7			3		0	0	1	0	0
MANEAL	149175	broad.mit.edu	37	1	38265634	38265634	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:38265634G>T	uc001cby.2	+	3	1214	c.1133G>T	c.(1132-1134)aGg>aTg	p.R378M	MANEAL_uc001cbx.2_3'UTR|MANEAL_uc001cbz.2_Missense_Mutation_p.R156M	NM_001113482	NP_001106954	Q5VSG8	MANEL_HUMAN	Homo sapiens mannosidase, endo-alpha-like (MANEAL), transcript variant 3, mRNA.	378						Golgi membrane|integral to membrane	hydrolase activity			endometrium(1)|large_intestine(1)|liver(1)|lung(1)|prostate(3)	7	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				ACGCGCAACAGGGTCAATGGC	0.557000														55			9		0.000274275	0.000294507	1	1	0
C12orf12	196477	broad.mit.edu	37	12	91347827	91347827	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:91347827G>A	uc001tbj.3	-	0	1127	c.693C>T	c.(691-693)tcC>tcT	p.S231S		NM_152638	NP_689851	Q8TC90	CL012_HUMAN	Homo sapiens chromosome 12 open reading frame 12 (C12orf12), mRNA.	231										NS(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	27						CGTCGTTTCCGGAGGATCTGG	0.637000														162			57		0	0	1	0	0
DENND1A	57706	broad.mit.edu	37	9	126520032	126520032	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:126520032G>A	uc011lzm.1	-	2	370	c.156C>T	c.(154-156)ttC>ttT	p.F52F	DENND1A_uc004bny.1_5'UTR|DENND1A_uc004bnz.1_Silent_p.F84F|DENND1A_uc004boa.1_Silent_p.F84F|DENND1A_uc004bob.1_Silent_p.F54F|DENND1A_uc004boc.3_Silent_p.F52F	NM_020946	NP_065997	Q8TEH3	DEN1A_HUMAN	Homo sapiens DENN/MADD domain containing 1A (DENND1A), transcript variant 1, mRNA.	84	UDENN.					cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						GGCAGAACCCGAATCTCTGTT	0.493000														23			24		0	0	1	0	0
RSPO3	84870	broad.mit.edu	37	6	127471638	127471638	+	Nonsense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:127471638C>A	uc003qas.1	+	2	647	c.357C>A	c.(355-357)taC>taA	p.Y119*	RSPO3_uc003qar.3_Nonsense_Mutation_p.Y119*	NM_032784	NP_116173	Q9BXY4	RSPO3_HUMAN	Homo sapiens R-spondin 3 (RSPO3), mRNA.	119						extracellular region	heparin binding		PTPRK/RSPO3(10)	breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1)	17				GBM - Glioblastoma multiforme(226;0.0555)		GTGGATTTTACTTACACCTTG	0.373000														87			6		8.12818e-05	8.84769e-05	1	1	0
OR6B2	389090	broad.mit.edu	37	2	240969099	240969099	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:240969099C>T	uc010zoc.2	-	0	748	c.748G>A	c.(748-750)Gtc>Atc	p.V250I	OR6B2_uc002vyr.3_Missense_Mutation_p.V250I	NM_001005853	NP_001005853	Q6IFH4	OR6B2_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily B, member 2 (OR6B2), mRNA.	250					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)	15		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.4e-29)|all cancers(36;2.08e-27)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)		GTATAGAAGACGGTGACCACG	0.577000														25			21		0	0	1	0	0
DDX54	79039	broad.mit.edu	37	12	113600941	113600941	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:113600941G>A	uc001tuq.4	-	15	2105	c.2077C>T	c.(2077-2079)Cgg>Tgg	p.R693W	DDX54_uc001tup.3_Missense_Mutation_p.R693W	NM_001111322	NP_001104792	Q8TDD1	DDX54_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 54 (DDX54), transcript variant 1, mRNA.	693			R -> Q (in dbSNP:rs11564).		RNA processing|estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	ATP binding|ATP-dependent RNA helicase activity|RNA binding|estrogen receptor binding|transcription corepressor activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						ACTCACCCCCGCTCGCTGTCA	0.642000														19			11		0	0	1	0	0
XDH	7498	broad.mit.edu	37	2	31591469	31591469	+	Missense_Mutation	SNP	G	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:31591469G>C	uc002rnv.1	-	18	2117	c.2038C>G	c.(2038-2040)Cag>Gag	p.Q680E		NM_000379	NP_000370	P47989	XDH_HUMAN	Homo sapiens xanthine dehydrogenase (XDH), mRNA.	680					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity	p.Q680H(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	GCAGCTCTCTGTGTGTGTTCC	0.488000														52			30		0	0	1	0	0
RUSC2	9853	broad.mit.edu	37	9	35560530	35560530	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:35560530G>A	uc003zww.3	+	9	4148	c.3893G>A	c.(3892-3894)aGc>aAc	p.S1298N	RUSC2_uc010mkq.3_Non-coding_Transcript|RUSC2_uc003zwx.4_Missense_Mutation_p.S1298N	NM_014806	NP_055621	Q8N2Y8	RUSC2_HUMAN	Homo sapiens RUN and SH3 domain containing 2 (RUSC2), mRNA.	1298						cytosol				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			AGCAGCAACAGCAGCAGCGAG	0.642000														36			22		0	0	1	0	0
TRA2A	29896	broad.mit.edu	37	7	23545848	23545848	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:23545848C>A	uc003swi.3	-	5	892	c.679G>T	c.(679-681)Ggt>Tgt	p.G227C	TRA2A_uc011jzb.2_Non-coding_Transcript|TRA2A_uc011jzc.2_Missense_Mutation_p.G126C|TRA2A_uc011jzd.2_Missense_Mutation_p.G126C	NM_013293	NP_037425	Q13595	TRA2A_HUMAN	Homo sapiens transformer 2 alpha homolog (Drosophila) (TRA2A), mRNA.	227	Arg/Ser-rich (RS2 domain).				nuclear mRNA splicing, via spliceosome	nucleus	RNA binding|nucleotide binding			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10						ccacctccacctccaccgccg	0.448000														33			13		9.31168e-06	1.03939e-05	1	1	0
PGM2	55276	broad.mit.edu	37	4	37848641	37848641	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:37848641G>A	uc011byb.1	+	8	1170	c.1097G>A	c.(1096-1098)cGc>cAc	p.R366H	PGM2_uc011bya.1_Missense_Mutation_p.R227H|PGM2_uc011byc.1_Missense_Mutation_p.R206H	NM_018290	NP_060760	Q96G03	PGM2_HUMAN	Homo sapiens phosphoglucomutase 2 (PGM2), mRNA.	366					glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity|phosphopentomutase activity			breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	19						AACCAGGATCGCAGTGCTCTC	0.488000														109			16		0	0	1	0	0
FBN2	2201	broad.mit.edu	37	5	127680187	127680187	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:127680187T>C	uc003kuu.3	-	24	3672	c.3233A>G	c.(3232-3234)aAa>aGa	p.K1078R	FBN2_uc003kuv.2_Missense_Mutation_p.K1045R	NM_001999	NP_001990	P35556	FBN2_HUMAN	Homo sapiens fibrillin 2 (FBN2), mRNA.	1078	EGF-like 15; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		AGGAAATGCTTTGCATTCATT	0.398000														86			15		0	0	1	0	0
C11orf49	79096	broad.mit.edu	37	11	47074068	47074068	+	Splice_Site	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:47074068C>T	uc001ndr.3	+	3	386	c.280_splice	c.e3+1	p.D94_splice	C11orf49_uc001nds.3_Splice_Site_p.D94_splice|C11orf49_uc001ndq.3_Splice_Site_p.D94_splice|C11orf49_uc001ndp.3_Splice_Site_p.D94_splice|C11orf49_uc010rgx.2_Splice_Site|C11orf49_uc010rgy.2_Splice_Site_p.D85_splice|C11orf49_uc010rgz.2_Intron	NM_001003677	NP_001003677	Q9H6J7	CK049_HUMAN	Homo sapiens chromosome 11 open reading frame 49 (C11orf49), transcript variant 2, mRNA.	94										central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(1)	11						GCAAAAATGGCGGTAAGTCTT	0.463000														29			26		0	0	1	0	0
NFS1	9054	broad.mit.edu	37	20	34285617	34285617	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:34285617G>A	uc002xdw.2	-	2	390	c.313C>T	c.(313-315)Cgt>Tgt	p.R105C	NFS1_uc002xdt.2_Missense_Mutation_p.R45C|NFS1_uc010zvl.2_Missense_Mutation_p.R105C|NFS1_uc010zvk.2_5'UTR|NFS1_uc002xdx.3_Missense_Mutation_p.R105C|ROMO1_uc002xdy.3_5'Flank|ROMO1_uc010gfm.3_5'Flank	NM_021100	NP_066923	Q9Y697	NFS1_HUMAN	Homo sapiens NFS1 nitrogen fixation 1 homolog (S. cerevisiae) (NFS1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	105					Mo-molybdopterin cofactor biosynthetic process|cysteine metabolic process|iron incorporation into metallo-sulfur cluster|protein complex assembly|water-soluble vitamin metabolic process	cytosol|mitochondrial matrix|nucleus	cysteine desulfurase activity|protein homodimerization activity|pyridoxal phosphate binding			central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	18	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.0886)		L-Alanine(DB00160)|L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)	TGACGAGCACGTTCCATGGCT	0.542000														28			18		0	0	1	0	0
MCC	4163	broad.mit.edu	37	5	112406897	112406897	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:112406897G>T	uc003kql.4	-	11	2235	c.1819C>A	c.(1819-1821)Ctg>Atg	p.L607M	MCC_uc003kqj.4_Missense_Mutation_p.L417M|MCC_uc003kqk.4_Non-coding_Transcript|MCC_uc011cwb.1_Missense_Mutation_p.L417M|MCC_uc010jcd.1_Missense_Mutation_p.L379M	NM_001085377	NP_001078846	P23508	CRCM_HUMAN	Homo sapiens mutated in colorectal cancers (MCC), transcript variant 1, mRNA.	417					Wnt receptor signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		GTTATGGTCAGGAGGTCATTT	0.453000														103			41		3.38236e-24	4.41471e-24	1	1	0
CHPF2	54480	broad.mit.edu	37	7	150935111	150935111	+	Missense_Mutation	SNP	C	T	T	rs139831103		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:150935111C>T	uc003wjr.1	+	3	3176	c.1663C>T	c.(1663-1665)Cgg>Tgg	p.R555W	CHPF2_uc003wjq.1_Missense_Mutation_p.R547W|CHPF2_uc022aqb.1_5'Flank	NM_019015	NP_061888	Q9P2E5	CHPF2_HUMAN	Homo sapiens chondroitin polymerizing factor 2 (CHPF2), mRNA.	555						Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3)	17						GTTAGAGCGACGGTACCCTGG	0.632000														40			17		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140711783	140711783	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140711783C>T	uc003lji.2	+	0	1532	c.1532C>T	c.(1531-1533)aCt>aTt	p.T511I	PCDHGC5_uc011dan.2_Missense_Mutation_p.T511I	NM_018912	NP_061735	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 1 (PCDHGA1), transcript variant 1, mRNA.	513	Cadherin 5.				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)			AACTCCGACACTGGGGTCCTG	0.557000														103			53		0	0	1	0	0
COPS4	51138	broad.mit.edu	37	4	83971034	83971034	+	Splice_Site	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:83971034G>A	uc003hoa.3	+	4	446	c.307_splice	c.e4-1	p.V103_splice	COPS4_uc010ijx.3_Splice_Site_p.V103_splice	NM_016129	NP_057213	Q9BT78	CSN4_HUMAN	Homo sapiens COP9 constitutive photomorphogenic homolog subunit 4 (Arabidopsis) (COPS4), mRNA.	103					cullin deneddylation	cytoplasm|signalosome	protein binding			endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(2)	13		Hepatocellular(203;0.114)				ATTATTCCAGGTTGCTTCCAT	0.333000														43			31		0	0	1	0	0
DNAAF1	123872	broad.mit.edu	37	16	84188402	84188402	+	Splice_Site	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:84188402C>A	uc002fhl.4	+	4	755	c.574_splice	c.e4+1	p.S192_splice	DNAAF1_uc010chi.1_Splice_Site	NM_178452	NP_848547	Q8NEP3	DAAF1_HUMAN	Homo sapiens dynein, axonemal, assembly factor 1 (DNAAF1), mRNA.	192					axonemal dynein complex assembly|cilium morphogenesis	cilium axoneme|cytoplasm|spindle pole	dynein binding			NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1)	41						TTGAAAACCTCTGTAAGGGTA	0.438000														70			6		0.217242	0.21859	1	1	0
NLRP1	22861	broad.mit.edu	37	17	5433810	5433810	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:5433810C>T	uc002gci.3	-	11	4066	c.3511G>A	c.(3511-3513)Gct>Act	p.A1171T	NLRP1_uc002gcg.1_Missense_Mutation_p.A1175T|NLRP1_uc002gch.4_Missense_Mutation_p.A1171T|NLRP1_uc002gck.3_Missense_Mutation_p.A1171T|NLRP1_uc002gcj.3_Missense_Mutation_p.A1141T|NLRP1_uc002gcl.3_Missense_Mutation_p.A1141T|NLRP1_uc010clh.3_Missense_Mutation_p.A1171T	NM_033004	NP_127497	Q9C000	NALP1_HUMAN	Homo sapiens NLR family, pyrin domain containing 1 (NLRP1), transcript variant 1, mRNA.	1171					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	NALP1 inflammasome complex|cytoplasm|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				CCTTGGAGAGCCACAAAGTGA	0.542000														23			14		0	0	1	0	0
AOAH	313	broad.mit.edu	37	7	36633978	36633978	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:36633978G>A	uc022abu.1	-	11	1306	c.905C>T	c.(904-906)tCt>tTt	p.S302F	AOAH_uc003tfh.4_Missense_Mutation_p.S302F|AOAH_uc011kba.2_Missense_Mutation_p.S270F	NM_001177506	NP_001170977	P28039	AOAH_HUMAN	Homo sapiens acyloxyacyl hydrolase (neutrophil) (AOAH), transcript variant 2, mRNA.	302					inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						TGTAGCACCAGAGAGTTGGGG	0.433000														97			6		0	0	1	0	0
WDR1	9948	broad.mit.edu	37	4	10079512	10079512	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:10079512C>T	uc021xlv.1	-	12	1717	c.1434G>A	c.(1432-1434)acG>acA	p.T478T	WDR1_uc021xlw.1_Silent_p.T338T|WDR1_uc010idm.3_Non-coding_Transcript	NM_017491	NP_059830	O75083	WDR1_HUMAN	Homo sapiens WD repeat domain 1 (WDR1), transcript variant 1, mRNA.	478					platelet activation|platelet degranulation|sensory perception of sound	cytoskeleton|cytosol|extracellular region	actin binding			endometrium(3)|lung(5)|ovary(2)|pancreas(1)|urinary_tract(1)	12				STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)		CATCCTTCAGCGTGGTGCCCA	0.642000														6			3		0	0	1	0	0
AKR1A1	10327	broad.mit.edu	37	1	46032281	46032281	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:46032281G>A	uc021omx.1	+	4	543	c.125G>A	c.(124-126)cGc>cAc	p.R42H	AKR1A1_uc009vxw.3_Missense_Mutation_p.R42H|AKR1A1_uc021omy.1_Missense_Mutation_p.R42H|AKR1A1_uc001cod.3_Missense_Mutation_p.R42H|AKR1A1_uc001coe.3_Missense_Mutation_p.R42H|AKR1A1_uc001cof.3_5'Flank	NM_001202414	NP_001189343	P14550	AK1A1_HUMAN	Homo sapiens aldo-keto reductase family 1, member A1 (aldehyde reductase) (AKR1A1), transcript variant 3, mRNA.	42					glucose metabolic process		alditol:NADP+ 1-oxidoreductase activity|electron carrier activity|protein binding			lung(3)|prostate(1)|urinary_tract(1)	5	Acute lymphoblastic leukemia(166;0.155)					GTAGGCTACCGCCACATTGAT	0.517000														58			48		0	0	1	0	0
TFDP1	7027	broad.mit.edu	37	13	114290930	114290930	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:114290930C>T	uc001vtw.3	+	9	1133	c.921C>T	c.(919-921)tgC>tgT	p.C307C	TFDP1_uc010tkd.2_Silent_p.C212C|TFDP1_uc010tke.2_Silent_p.C212C|TFDP1_uc001vty.4_Silent_p.C307C	NM_007111	NP_009042	Q14186	TFDP1_HUMAN	Homo sapiens transcription factor Dp-1 (TFDP1), transcript variant 1, mRNA.	307	DCB2.|Enhances binding of RB protein to E2F.				G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|cell proliferation|regulation of transcription from RNA polymerase II promoter	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding	p.M305_A306>IS(1)		breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.132)|all_epithelial(44;0.0731)|all_lung(25;0.149)|Breast(118;0.153)	all cancers(43;0.0576)			GCATGGCTTGCGGGCTGGAGT	0.517000										TSP Lung(29;0.18)				26			24		0	0	1	0	0
RRP7A	27341	broad.mit.edu	37	22	42910712	42910712	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:42910712C>T	uc003bcp.3	-	2	1097	c.603G>A	c.(601-603)gaG>gaA	p.E201E	RRP7A_uc003bcq.3_Silent_p.E178E	NM_015703	NP_056518	Q9Y3A4	RRP7A_HUMAN	Homo sapiens ribosomal RNA processing 7 homolog A (S. cerevisiae) (RRP7A), mRNA.	178							RNA binding|nucleotide binding			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|lung(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	10						GGTCATATGCCTCCATGAACG	0.652000														17			6		0	0	1	0	0
PRMT3	10196	broad.mit.edu	37	11	20515715	20515715	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:20515715C>T	uc001mqb.3	+	14	1618	c.1401C>T	c.(1399-1401)gtC>gtT	p.V467V	PRMT3_uc001mqc.3_Silent_p.V390V|PRMT3_uc010rdn.2_Silent_p.V405V	NM_005788	NP_005779	O60678	ANM3_HUMAN	Homo sapiens protein arginine methyltransferase 3 (PRMT3), transcript variant 1, mRNA.	467							zinc ion binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|prostate(1)	17						CAATTCAGGTCGTGTTCTCTA	0.373000														157			93		0	0	1	0	0
TAB1	10454	broad.mit.edu	37	22	39811107	39811107	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:39811107A>G	uc003axt.3	+	1	179	c.130A>G	c.(130-132)Act>Gct	p.T44A	TAB1_uc003axr.3_Missense_Mutation_p.T120A|TAB1_uc011aok.2_5'UTR|TAB1_uc003axu.1_Missense_Mutation_p.T44A	NM_006116	NP_006107	Q15750	TAB1_HUMAN	Homo sapiens TGF-beta activated kinase 1/MAP3K7 binding protein 1 (TAB1), transcript variant alpha, mRNA.	44					I-kappaB kinase/NF-kappaB cascade|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|activation of MAPKKK activity|innate immune response|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane	catalytic activity|protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|urinary_tract(1)	14						TGGCAAGGGCACTGAGAGCCA	0.602000														26			4		0	0	1	0	0
UBXN1	51035	broad.mit.edu	37	11	62445254	62445254	+	Splice_Site	SNP	T	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:62445254T>A	uc001nuj.3	-	6	666	c.534_splice	c.e6+1	p.K178_splice	UBXN1_uc001nul.2_Splice_Site_p.K178_splice|UBXN1_uc001nuk.3_Missense_Mutation_p.K143M|UBXN1_uc010rme.1_Missense_Mutation_p.K178M	NM_015853	NP_056937	Q04323	UBXN1_HUMAN	Homo sapiens UBX domain protein 1 (UBXN1), mRNA.	178	Interaction with BRCA1.				negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process	cytoplasm	ATPase binding|K6-linked polyubiquitin binding			endometrium(5)|lung(12)	17						GTCACCTACCTTCTTGGCTCT	0.433000														75			46		0	0	1	0	0
ARPC3	10094	broad.mit.edu	37	12	110874914	110874914	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:110874914G>T	uc001tqq.3	-	3	320	c.227C>A	c.(226-228)tCt>tAt	p.S76Y		NM_005719	NP_005710	O15145	ARPC3_HUMAN	Homo sapiens actin related protein 2/3 complex, subunit 3, 21kDa (ARPC3), mRNA.	76					cellular component movement|regulation of actin filament polymerization	Arp2/3 protein complex|cytoplasm	actin binding|structural constituent of cytoskeleton			lung(1)|ovary(1)	2						CAGACATTCAGAAATGTAGAG	0.348000														28			16		2.94398e-08	3.4452e-08	1	1	0
CHD1L	9557	broad.mit.edu	37	1	146739147	146739147	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:146739147A>C	uc001epm.4	+	8	1021	c.958A>C	c.(958-960)Aag>Cag	p.K320Q	CHD1L_uc001epn.4_Missense_Mutation_p.K207Q|CHD1L_uc010ozo.2_Non-coding_Transcript|CHD1L_uc009wjg.3_Non-coding_Transcript|CHD1L_uc009wjh.3_Missense_Mutation_p.K320Q|CHD1L_uc010ozp.2_Missense_Mutation_p.K39Q|CHD1L_uc001epo.4_Missense_Mutation_p.K116Q|CHD1L_uc010ozq.1_5'UTR|CHD1L_uc009wji.3_Missense_Mutation_p.K39Q	NM_004284	NP_004275	Q86WJ1	CHD1L_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 1-like (CHD1L), transcript variant 1, mRNA.	320					DNA repair|chromatin remodeling	cytoplasm|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(923;0.0487)					CCAGCTTCGAAAGTGTGTGGA	0.373000														45			7		0	0	1	0	0
TBC1D4	9882	broad.mit.edu	37	13	75873473	75873473	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:75873473G>A	uc001vjl.1	-	16	3496	c.3149C>T	c.(3148-3150)tCg>tTg	p.S1050L	TBC1D4_uc010tht.1_Missense_Mutation_p.S260L|TBC1D4_uc010thu.1_Missense_Mutation_p.S207L|TBC1D4_uc010aer.2_Missense_Mutation_p.S1042L|TBC1D4_uc010aes.2_Missense_Mutation_p.S987L	NM_014832	NP_055647	O60343	TBCD4_HUMAN	Homo sapiens TBC1 domain family, member 4 (TBC1D4), mRNA.	1050	Rab-GAP TBC.					cytoplasm	Rab GTPase activator activity	p.S1050L(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		CACCTGCAGCGACATCATGTC	0.468000														22			12		0	0	1	0	0
GPRASP1	9737	broad.mit.edu	37	X	101912597	101912597	+	Silent	SNP	G	A	A	rs142372042		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:101912597G>A	uc010nod.3	+	2	4398	c.3756G>A	c.(3754-3756)ccG>ccA	p.P1252P	ARMCX5-GPRASP2_uc022cay.1_Intron|GPRASP1_uc022cbc.1_Silent_p.P1252P|GPRASP1_uc004ejj.4_Silent_p.P1252P|GPRASP1_uc004eji.4_Silent_p.P1252P|GPRASP1_uc022cbd.1_Silent_p.P1252P	NM_001099411	NP_055525	Q5JY77	GASP1_HUMAN	Homo sapiens G protein-coupled receptor associated sorting protein 1 (GPRASP1), transcript variant 3, mRNA.	1252	OPRD1-binding.					cytoplasm	protein binding			NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TGGATTCCCCGGAACAGCTGT	0.413000														138			15		0	0	1	0	0
THBS3	7059	broad.mit.edu	37	1	155169847	155169847	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155169847C>A	uc001fix.3	-	14	1871	c.1766G>T	c.(1765-1767)aGg>aTg	p.R589M	THBS3_uc021pat.1_5'UTR|THBS3_uc010pfu.2_Missense_Mutation_p.R469M|THBS3_uc009wqi.3_Missense_Mutation_p.R580M|THBS3_uc001fiy.3_Missense_Mutation_p.R118M|THBS3_uc010pfv.2_Non-coding_Transcript	NM_007112	NP_009043	P49746	TSP3_HUMAN	Homo sapiens thrombospondin 3 (THBS3), transcript variant 1, mRNA.	589					cell-matrix adhesion	extracellular region|perinuclear region of cytoplasm	calcium ion binding|heparin binding|structural molecule activity			breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GTCCTCATCCCTGTCTGTCTG	0.532000														63			11		0.000978159	0.00103832	1	1	0
C8orf33	65265	broad.mit.edu	37	8	146278270	146278270	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:146278270G>A	uc003zfc.4	+	1	359	c.305G>A	c.(304-306)aGc>aAc	p.S102N	C8orf33_uc003zfd.3_Non-coding_Transcript	NM_023080	NP_075568	Q9H7E9	CH033_HUMAN	Homo sapiens chromosome 8 open reading frame 33 (C8orf33), mRNA.	102										endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;9.1e-38)|all cancers(56;7.37e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.243)		GTTCCCCTAAGCGCTGAGGCC	0.582000														15			5		0	0	1	0	0
SMAD9	4093	broad.mit.edu	37	13	37439691	37439691	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:37439691C>A	uc001uvw.3	-	4	1329	c.986G>T	c.(985-987)aGg>aTg	p.R329M	SMAD9_uc001uvx.3_Missense_Mutation_p.R292M|SMAD9_uc010tep.2_Missense_Mutation_p.R122M	NM_001127217	NP_001120689	O15198	SMAD9_HUMAN	Homo sapiens SMAD family member 9 (SMAD9), transcript variant a, mRNA.	329	MH2.				BMP signaling pathway|transforming growth factor beta receptor signaling pathway	cytosol|transcription factor complex	sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)	18		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026)		TATATGTCTCCTGGTATTTTC	0.413000														55			14		2.31682e-05	2.55671e-05	1	1	0
CEP350	9857	broad.mit.edu	37	1	180064777	180064777	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:180064777C>T	uc001gnt.3	+	34	9014	c.8631C>T	c.(8629-8631)gaC>gaT	p.D2877D	CEP350_uc009wxl.2_Silent_p.D2876D|CEP350_uc001gnv.3_Silent_p.D1012D|CEP350_uc001gnw.1_Silent_p.D634D|CEP350_uc001gnx.1_Silent_p.D634D	NM_014810	NP_055625	Q5VT06	CE350_HUMAN	Homo sapiens centrosomal protein 350kDa (CEP350), mRNA.	2877						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						TTGATGAAGACTTTGGTTTGA	0.448000														51			8		0	0	1	0	0
EDEM3	80267	broad.mit.edu	37	1	184723757	184723757	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:184723757G>T	uc010pom.2	-	0	285	c.24C>A	c.(22-24)ggC>ggA	p.G8G	EDEM3_uc010pok.2_Silent_p.G8G|EDEM3_uc010pol.2_Non-coding_Transcript|EDEM3_uc001gqy.3_5'UTR	NM_025191	NP_079467	Q9BZQ6	EDEM3_HUMAN	Homo sapiens ER degradation enhancer, mannosidase alpha-like 3 (EDEM3), mRNA.	8					post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GGGACCCACAGCCCCGGCCGC	0.751000														5			3		6.4e-05	6.99953e-05	1	1	0
KAT6A	7994	broad.mit.edu	37	8	41839368	41839368	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:41839368C>A	uc010lxb.3	-	4	1358	c.814G>T	c.(814-816)Ggc>Tgc	p.G272C	KAT6A_uc010lxc.3_Missense_Mutation_p.G272C|KAT6A_uc003xon.4_Missense_Mutation_p.G272C|KAT6A_uc010lxd.3_Missense_Mutation_p.G272C	NM_001099412	NP_006757	Q92794	MYST3_HUMAN	Homo sapiens K(lysine) acetyltransferase 6A (KAT6A), transcript variant 1, mRNA.	272					histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding	p.G272S(1)									GCATTTTTGCCTTGATCTCGA	0.423000														29			4		1.024e-07	1.18895e-07	1	1	0
USP9X	8239	broad.mit.edu	37	X	41048650	41048650	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:41048650C>A	uc004dfb.3	+	25	4532	c.3899C>A	c.(3898-3900)cCa>cAa	p.P1300Q	USP9X_uc004dfc.3_Missense_Mutation_p.P1300Q	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN	Homo sapiens ubiquitin specific peptidase 9, X-linked (USP9X), transcript variant 3, mRNA.	1300					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						GCCTTGATTCCAACAGCCTTA	0.393000														78			9		0.000274275	0.000294507	1	1	0
TMEM242	729515	broad.mit.edu	37	6	157713970	157713970	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:157713970G>A	uc003sih.4	-	3	1111	c.389C>T	c.(388-390)tCg>tTg	p.S130L		NM_018452	NP_060922	Q9NWH2	CF035_HUMAN	Homo sapiens transmembrane protein 242 (TMEM242), mRNA.	130						integral to membrane											CTCAACAGCCGATTCGGAGTT	0.368000														69			45		0	0	1	0	0
NUDT15	55270	broad.mit.edu	37	13	48615099	48615099	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:48615099G>T	uc001vbw.1	+	1	382	c.202G>T	c.(202-204)Gca>Tca	p.A68S	SUCLA2_uc010tgd.2_5'Flank|NUDT15_uc001vbv.3_Missense_Mutation_p.A68S	NM_018283	NP_060753	Q9NV35	NUD15_HUMAN	Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 15 (NUDT15), mRNA.	68	Nudix hydrolase.						hydrolase activity|metal ion binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(1)	7		all_cancers(8;3.75e-25)|all_epithelial(8;1.78e-13)|all_lung(13;2.85e-06)|Breast(56;0.000141)|all_hematologic(8;0.000219)|Lung NSC(96;0.000226)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.0167)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;4.83e-07)		CTGGGAAGAAGCAGCTCTTCA	0.333000														33			9		4.36969e-10	5.24943e-10	1	1	0
SCMH1	22955	broad.mit.edu	37	1	41512229	41512229	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:41512229C>T	uc001cgo.3	-	11	1687	c.1318G>A	c.(1318-1320)Gtc>Atc	p.V440I	SCMH1_uc010ojr.2_Missense_Mutation_p.V282I|SCMH1_uc001cgp.3_Missense_Mutation_p.V379I|SCMH1_uc001cgr.3_Missense_Mutation_p.V379I|SCMH1_uc001cgq.3_Missense_Mutation_p.V393I|SCMH1_uc001cgs.3_Missense_Mutation_p.V450I|SCMH1_uc001cgt.3_Missense_Mutation_p.V379I|SCMH1_uc010ojs.1_Non-coding_Transcript	NM_001031694	NP_001165692	Q96GD3	SCMH1_HUMAN	Homo sapiens sex comb on midleg homolog 1 (Drosophila) (SCMH1), transcript variant 1, mRNA.	440					anatomical structure morphogenesis|gene silencing|multicellular organismal development|negative regulation of transcription, DNA-dependent		DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(2)|pancreas(2)|upper_aerodigestive_tract(1)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162)	Myeloproliferative disorder(586;0.0393)				ATGCTGTTGACTGCTGGGAGG	0.542000														74			5		0	0	1	0	0
COL4A6	1288	broad.mit.edu	37	X	107420134	107420134	+	Nonsense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:107420134C>A	uc004enw.4	-	27	2729	c.2626G>T	c.(2626-2628)Gga>Tga	p.G876*	COL4A6_uc004env.4_Nonsense_Mutation_p.G875*|COL4A6_uc011msn.2_Nonsense_Mutation_p.G875*|COL4A6_uc010npk.3_Nonsense_Mutation_p.G875*	NM_001847	NP_001838	Q14031	CO4A6_HUMAN	Homo sapiens collagen, type IV, alpha 6 (COL4A6), transcript variant A, mRNA.	876	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding	p.L876L(1)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						CCTTTCAGTCCTACTAGGCCT	0.537000									Alport syndrome with Diffuse Leiomyomatosis					213			18		1.00905e-13	1.25782e-13	1	1	0
COG5	10466	broad.mit.edu	37	7	106898773	106898773	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:106898773C>A	uc003vec.2	-	14	2249	c.1724G>T	c.(1723-1725)aGa>aTa	p.R575I	COG5_uc003ved.2_Missense_Mutation_p.R575I|COG5_uc003vee.2_Missense_Mutation_p.R575I	NM_006348	NP_006339	Q9UP83	COG5_HUMAN	Homo sapiens component of oligomeric golgi complex 5 (COG5), transcript variant 1, mRNA.	575					intra-Golgi vesicle-mediated transport|protein transport	Golgi membrane|Golgi transport complex|cytosol|nucleus	protein binding			breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						CACATTTCTTCTCTGTCCTTC	0.328000														170			18		5.35267e-07	6.12308e-07	1	1	0
CDC20	991	broad.mit.edu	37	1	43825273	43825273	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:43825273G>A	uc001cix.3	+	2	395	c.294G>A	c.(292-294)gaG>gaA	p.E98E	CDC20_uc001ciy.3_Silent_p.E98E	NM_001255	NP_001246	Q12834	CDC20_HUMAN	Homo sapiens cell division cycle 20 homolog (S. cerevisiae) (CDC20), mRNA.	98					activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle	cytosol|nucleoplasm|spindle	enzyme binding|protein C-terminus binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				TGAGCAAGGAGAACCAGCCTG	0.562000														85			11		0	0	1	0	0
VRK1	7443	broad.mit.edu	37	14	97342375	97342375	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:97342375G>T	uc001yft.3	+	11	1183	c.1077G>T	c.(1075-1077)aaG>aaT	p.K359N		NM_003384	NP_003375	Q99986	VRK1_HUMAN	Homo sapiens vaccinia related kinase 1 (VRK1), mRNA.	359						cytoplasm|nucleolus	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|endometrium(1)|large_intestine(5)|lung(3)|skin(1)|stomach(1)	12		Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.234)		AGAAGCGAAAGAAAGAAATTG	0.373000														123			13		0.00185496	0.0019572	1	1	0
C15orf39	56905	broad.mit.edu	37	15	75498566	75498566	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:75498566G>A	uc002azp.4	+	1	497	c.177G>A	c.(175-177)gaG>gaA	p.E59E	C15orf39_uc002azq.4_Silent_p.E59E|C15orf39_uc021sqm.1_5'Flank|C15orf39_uc002azr.4_5'Flank	NM_015492	NP_056307	Q6ZRI6	CO039_HUMAN	Homo sapiens chromosome 15 open reading frame 39 (C15orf39), mRNA.	59										autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						CTAAGGCCGAGTCTGAGCAGT	0.602000														20			9		0	0	1	0	0
SALL3	27164	broad.mit.edu	37	18	76754541	76754541	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:76754541C>T	uc002lmt.3	+	1	2550	c.2550C>T	c.(2548-2550)atC>atT	p.I850I	SALL3_uc010dra.3_Silent_p.I457I	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN	Homo sapiens sal-like 3 (Drosophila) (SALL3), mRNA.	850					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		TGAAGATGATCGACTCGGTCA	0.667000														28			22		0	0	1	0	0
CABP5	56344	broad.mit.edu	37	19	48543905	48543905	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:48543905C>T	uc002phu.2	-	2	327	c.195G>A	c.(193-195)acG>acA	p.T65T		NM_019855	NP_062829	Q9NP86	CABP5_HUMAN	Homo sapiens calcium binding protein 5 (CABP5), mRNA.	65	EF-hand 2.		T -> R (in dbSNP:rs34862923).		signal transduction	cytoplasm	calcium ion binding			endometrium(1)|large_intestine(3)|lung(3)|prostate(2)|skin(2)	11		all_cancers(25;1.86e-08)|all_lung(116;1.14e-06)|all_epithelial(76;1.16e-06)|Lung NSC(112;2.54e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;4.09e-05)|all cancers(93;0.000322)|Epithelial(262;0.01)|GBM - Glioblastoma multiforme(486;0.058)		GTTCCATCTCCGTGGGCATGT	0.537000														41			22		0	0	1	0	0
FNBP4	23360	broad.mit.edu	37	11	47767694	47767694	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:47767694G>T	uc009ylv.3	-	6	1312	c.1159C>A	c.(1159-1161)Ctt>Att	p.L387I	FNBP4_uc001ngj.3_Missense_Mutation_p.L294I|FNBP4_uc001ngl.2_Non-coding_Transcript	NM_015308	NP_056123	Q8N3X1	FNBP4_HUMAN	Homo sapiens formin binding protein 4 (FNBP4), mRNA.	387										NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						ACACTGCAAAGATCCTCCTGA	0.383000														173			24		3.6726e-16	4.64609e-16	1	1	0
SORL1	6653	broad.mit.edu	37	11	121461726	121461726	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:121461726C>A	uc001pxx.3	+	30	4359	c.4230C>A	c.(4228-4230)ccC>ccA	p.P1410P	SORL1_uc010rzp.1_Silent_p.P256P|SORL1_uc010rzq.1_Silent_p.P25P	NM_003105	NP_003096	Q92673	SORL_HUMAN	Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA.	1410					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		ATATTCTTCCCTTCTCGACTC	0.512000											OREG0021431	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		252			12		2.27111e-07	2.61452e-07	1	1	0
MOGS	7841	broad.mit.edu	37	2	74689915	74689915	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:74689915A>G	uc010ffj.3	-	3	1164	c.1001T>C	c.(1000-1002)tTt>tCt	p.F334S	MOGS_uc010ffh.3_Missense_Mutation_p.F59S|MOGS_uc010yrt.2_Missense_Mutation_p.F215S|MOGS_uc010ffi.3_Missense_Mutation_p.F228S	NM_006302	NP_001139630	Q13724	MOGS_HUMAN	Homo sapiens mannosyl-oligosaccharide glucosidase (MOGS), transcript variant 1, mRNA.	334					oligosaccharide metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding	endoplasmic reticulum membrane|integral to membrane|membrane fraction	mannosyl-oligosaccharide glucosidase activity			cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2)	23						TTCAAACACAAACTCTATGGA	0.562000														138			12		0	0	1	0	0
PROM2	150696	broad.mit.edu	37	2	95953982	95953982	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:95953982C>T	uc002suk.3	+	20	2401	c.2268C>T	c.(2266-2268)tgC>tgT	p.C756C	PROM2_uc002suh.2_Silent_p.C756C|PROM2_uc002sui.3_Silent_p.C756C|PROM2_uc002suj.3_Silent_p.C410C|PROM2_uc002sul.3_Silent_p.C282C|PROM2_uc002sum.3_Non-coding_Transcript	NM_001165977	NP_653308	Q8N271	PROM2_HUMAN	Homo sapiens prominin 2 (PROM2), transcript variant 2, mRNA.	756						apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						TTGCCACCTGCCAGCCCCTCT	0.607000														41			14		0	0	1	0	0
PLBD1	79887	broad.mit.edu	37	12	14706205	14706205	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:14706205G>A	uc001rcc.1	-	1	418	c.257C>T	c.(256-258)gCt>gTt	p.A86V		NM_024829	NP_079105	Q6P4A8	PLBL1_HUMAN	Homo sapiens phospholipase B domain containing 1 (PLBD1), mRNA.	86					lipid catabolic process	extracellular region	hydrolase activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	16						GCCATAGCCAGCTCTGATCTC	0.478000														34			8		0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166848361	166848361	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:166848361G>T	uc002udo.4	-	27	5651	c.5424C>A	c.(5422-5424)ttC>ttA	p.F1808L	SCN1A_uc010fpk.3_Missense_Mutation_p.F1780L|SCN1A_uc021vsb.1_Missense_Mutation_p.F1797L	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	1808			F -> L (in ICEGTC; dbSNP:rs121918757).|Missing (in SMEI).			voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	AAACCTCATAGAACATCTCAA	0.458000														65			46		1.19451e-25	1.5642e-25	1	1	0
ATAD5	79915	broad.mit.edu	37	17	29185232	29185232	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:29185232G>T	uc002hfs.1	+	8	3190	c.2847G>T	c.(2845-2847)gaG>gaT	p.E949D	ATAD5_uc002hft.1_Missense_Mutation_p.E846D	NM_024857	NP_079133	Q96QE3	ATAD5_HUMAN	Homo sapiens ATPase family, AAA domain containing 5 (ATAD5), mRNA.	949					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				TTTTGCTTGAGGAAATTAGGT	0.323000														42			31		8.88839e-20	1.145e-19	1	1	0
TLN2	83660	broad.mit.edu	37	15	63127961	63127961	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:63127961C>A	uc002alb.4	+	52	7154	c.7154C>A	c.(7153-7155)gCa>gAa	p.A2385E	TLN2_uc002alc.4_Missense_Mutation_p.A778E|TLN2_uc010uic.2_5'UTR|AK125516_uc002ale.1_5'Flank	NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	Homo sapiens talin 2 (TLN2), mRNA.	2385	I/LWEQ.				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						GCCAATGCTGCAGACGACGGA	0.592000														92			8		3.86212e-05	4.23294e-05	1	1	0
KRTAP5-2	440021	broad.mit.edu	37	11	1619040	1619040	+	Nonsense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:1619040G>T	uc001ltv.3	-	0	485	c.441C>A	c.(439-441)tgC>tgA	p.C147*	MOB2_uc001ltq.2_Intron|LOC338651_uc009ycx.1_Missense_Mutation_p.S47I|LOC338651_uc001ltt.1_Non-coding_Transcript	NM_001004325	NP_001004325	Q701N4	KRA52_HUMAN	Homo sapiens keratin associated protein 5-2 (KRTAP5-2), mRNA.	147	6 X 4 AA repeats of C-C-X-P.					keratin filament				large_intestine(1)|lung(2)|skin(1)	4		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CGGGGACACAGCAGCTGGACT	0.607000														81			21		4.26978e-12	5.24748e-12	1	1	0
LYST	1130	broad.mit.edu	37	1	235969400	235969400	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:235969400C>A	uc001hxj.2	-	5	3211	c.3036G>T	c.(3034-3036)aaG>aaT	p.K1012N	LYST_uc009xgb.1_Non-coding_Transcript|LYST_uc010pxs.1_Non-coding_Transcript|LYST_uc001hxl.1_Missense_Mutation_p.K1012N	NM_000081	NP_000072	Q99698	LYST_HUMAN	Homo sapiens lysosomal trafficking regulator (LYST), mRNA.	1012					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TATCTCCCTCCTTTTTTCCTT	0.333000														71			45		2.24893e-16	2.85135e-16	1	1	0
ATG7	10533	broad.mit.edu	37	3	11340313	11340313	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:11340313G>T	uc003bwc.3	+	1	261	c.144G>T	c.(142-144)aaG>aaT	p.K48N	ATG7_uc003bwd.3_Missense_Mutation_p.K48N|ATG7_uc011aum.2_Missense_Mutation_p.K48N	NM_006395	NP_006386	O95352	ATG7_HUMAN	Homo sapiens ATG7 autophagy related 7 homolog (S. cerevisiae) (ATG7), transcript variant 1, mRNA.	48					autophagy|cellular membrane fusion|positive regulation of protein modification process|protein lipidation|protein transport	cytoplasm	APG12 activating enzyme activity|protein homodimerization activity|ubiquitin activating enzyme activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	34						AGGACATTAAGGGTTATTACT	0.428000														124			8		0.00448238	0.0046769	1	1	0
STK17A	9263	broad.mit.edu	37	7	43664326	43664326	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:43664326C>A	uc003tih.3	+	6	1281	c.1130C>A	c.(1129-1131)aCt>aAt	p.T377N	C7orf44_uc003tij.3_Intron|C7orf44_uc010kxu.2_Intron	NM_004760	NP_004751	Q9UEE5	ST17A_HUMAN	Homo sapiens serine/threonine kinase 17a (STK17A), mRNA.	377					apoptosis|induction of apoptosis|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						ACTTCATATACTCTAGGACAA	0.373000														59			69		6.07242e-22	7.87679e-22	1	1	0
KIAA0564	23078	broad.mit.edu	37	13	42393508	42393508	+	Missense_Mutation	SNP	A	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:42393508A>T	uc001uyj.3	-	14	1785	c.1715T>A	c.(1714-1716)aTc>aAc	p.I572N	KIAA0564_uc001uyk.3_Missense_Mutation_p.I572N	NM_015058	NP_055873	A3KMH1	K0564_HUMAN	Homo sapiens KIAA0564 (KIAA0564), transcript variant 1, mRNA.	572						extracellular region	ATP binding|ATPase activity			endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(19)|lung(15)|ovary(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75		Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969)		GGAGGGATGGATAGGAAAAAT	0.378000														39			6		0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238277674	238277674	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:238277674C>T	uc002vwl.2	-	9	4717	c.4432G>A	c.(4432-4434)Gtg>Atg	p.V1478M	COL6A3_uc002vwo.2_Missense_Mutation_p.V1272M|COL6A3_uc010znj.1_Missense_Mutation_p.V871M	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	1478	Nonhelical region.|VWFA 8.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CTGAACTGCACGACCCCAACT	0.527000														27			15		0	0	1	0	0
MAP1S	55201	broad.mit.edu	37	19	17838652	17838652	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:17838652G>A	uc002nhe.1	+	4	2468	c.2459G>A	c.(2458-2460)cGc>cAc	p.R820H	MAP1S_uc010eaz.2_Missense_Mutation_p.R433H|MAP1S_uc010xpv.1_Missense_Mutation_p.R794H	NM_018174	NP_060644	Q66K74	MAP1S_HUMAN	Homo sapiens microtubule-associated protein 1S (MAP1S), mRNA.	820	Necessary for association with microtubules.|Necessary for interaction with RASSF1 isoform A and isoform C.|Pro-rich.				apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis	cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse	DNA binding|actin filament binding|beta-tubulin binding|microtubule binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						GGAGTCCCTCGCCACGACCCT	0.662000														7			6		0	0	1	0	0
LRRC47	57470	broad.mit.edu	37	1	3703769	3703769	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:3703769G>A	uc001akx.1	-	1	749	c.721C>T	c.(721-723)Cgc>Tgc	p.R241C		NM_020710	NP_065761	Q8N1G4	LRC47_HUMAN	Homo sapiens leucine rich repeat containing 47 (LRRC47), mRNA.	241					translation		RNA binding|phenylalanine-tRNA ligase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17	all_cancers(77;0.0375)|Ovarian(185;0.0634)|all_lung(157;0.208)|Lung NSC(156;0.21)	all_epithelial(116;1.34e-16)|all_lung(118;2.53e-06)|Lung NSC(185;0.00028)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)		Epithelial(90;5.49e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.43e-22)|GBM - Glioblastoma multiforme(42;3.69e-16)|Colorectal(212;1.21e-05)|COAD - Colon adenocarcinoma(227;5.87e-05)|Kidney(185;0.000367)|BRCA - Breast invasive adenocarcinoma(365;0.000704)|KIRC - Kidney renal clear cell carcinoma(229;0.00567)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)		TTCTCCAGGCGCTTGTCCCTC	0.632000														18			20		0	0	1	0	0
C5orf51	285636	broad.mit.edu	37	5	41904531	41904531	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:41904531C>T	uc003jmo.3	+	0	62	c.62C>T	c.(61-63)gCc>gTc	p.A21V		NM_175921	NP_787117	A6NDU8	CE051_HUMAN	Homo sapiens chromosome 5 open reading frame 51 (C5orf51), mRNA.	21										endometrium(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						CTGGCTCAGGCCCACATACAG	0.657000														8			8		0	0	1	0	0
MTUS1	57509	broad.mit.edu	37	8	17573323	17573323	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:17573323G>T	uc003wxv.3	-	4	3011	c.2537C>A	c.(2536-2538)cCt>cAt	p.P846H	MTUS1_uc003wxt.3_Missense_Mutation_p.P93H|MTUS1_uc011kyg.2_5'UTR|MTUS1_uc010lsy.3_Non-coding_Transcript|MTUS1_uc003wxw.3_Missense_Mutation_p.P792H	NM_001001924	NP_001001924	Q9ULD2	MTUS1_HUMAN	Homo sapiens microtubule associated tumor suppressor 1 (MTUS1), transcript variant 1, mRNA.	846						Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		GGATACCAAAGGCTTCAAATA	0.433000														88			56		1.70205e-38	2.26051e-38	1	1	0
OR6N2	81442	broad.mit.edu	37	1	158747053	158747053	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:158747053C>T	uc010pir.2	-	0	373	c.373G>A	c.(373-375)Gcc>Acc	p.A125T		NM_001005278	NP_001005278	Q8NGY6	OR6N2_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily N, member 2 (OR6N2), mRNA.	125					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(112;0.0378)					CGACAAATGGCCAGGTATCTA	0.502000														25			46		0	0	1	0	0
REXO1	57455	broad.mit.edu	37	19	1827631	1827631	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:1827631G>A	uc002lua.4	-	1	1252	c.1157C>T	c.(1156-1158)gCc>gTc	p.A386V	REXO1_uc010dsr.1_Missense_Mutation_p.A340V	NM_020695	NP_065746	Q8N1G1	REXO1_HUMAN	Homo sapiens REX1, RNA exonuclease 1 homolog (S. cerevisiae) (REXO1), mRNA.	386						nucleus	exonuclease activity|nucleic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCAGCTGGGGGCAGGTGGGGC	0.672000														20			8		0	0	1	0	0
TMCO6	55374	broad.mit.edu	37	5	140023377	140023377	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140023377G>A	uc003lgm.3	+	8	1050	c.949G>A	c.(949-951)Gtg>Atg	p.V317M	TMCO6_uc003lgl.3_Missense_Mutation_p.V311M|TMCO6_uc010jft.3_Missense_Mutation_p.V71M|TMCO6_uc003lgn.3_Missense_Mutation_p.V202M|TMCO6_uc003lgo.3_Missense_Mutation_p.V71M	NM_018502	NP_060972	Q96DC7	TMCO6_HUMAN	Homo sapiens transmembrane and coiled-coil domains 6 (TMCO6), mRNA.	311					protein import into nucleus	cytoplasm|nuclear pore	binding|protein transporter activity	p.V311M(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|urinary_tract(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCATGCCCCGTGCTTCGATG	0.502000														30			17		0	0	1	0	0
ABCA11P	79963	broad.mit.edu	37	4	437125	437125	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:437125A>G	uc003gaf.4	-	2	1453	c.1227T>C	c.(1225-1227)aaT>aaC	p.N409N	ABCA11P_uc003gac.2_Intron|ABCA11P_uc003gad.2_Intron|ABCA11P_uc011buv.2_Intron|ABCA11P_uc003gae.3_Intron|ABCA11P_uc010ibd.2_Intron|ABCA11P_uc003gag.3_Silent_p.N377N|ABCA11P_uc010ibe.3_Silent_p.N365N	NM_133474	NP_597731			Homo sapiens zinc finger protein 721 (ZNF721), mRNA.																		TCTTGTGTTGATTCAGGGCTG	0.408000														40			19		0	0	1	0	0
LARP1	23367	broad.mit.edu	37	5	154172182	154172182	+	Splice_Site	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:154172182C>T	uc003lvo.3	+	4	358	c.334_splice	c.e4-1	p.P112_splice	LARP1_uc021ygh.1_Splice_Site|LARP1_uc021ygi.1_Splice_Site_p.P189_splice|LARP1_uc010jie.1_Splice_Site	NM_015315	NP_056130	Q6PKG0	LARP1_HUMAN	Homo sapiens La ribonucleoprotein domain family, member 1 (LARP1), transcript variant 1, mRNA.	189							RNA binding|protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CCTGCTATAGCCACAGTCCCA	0.522000														79			38		0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158614141	158614141	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:158614141G>A	uc001fst.1	-	29	4439	c.4240C>T	c.(4240-4242)Cgt>Tgt	p.R1414C		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	1414					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GAATTCTCACGTGCCACCATC	0.473000														45			23		0	0	1	0	0
MYO5C	55930	broad.mit.edu	37	15	52539740	52539740	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:52539740G>T	uc010bff.3	-	14	1958	c.1796C>A	c.(1795-1797)cCt>cAt	p.P599H	MYO5C_uc010uga.2_Non-coding_Transcript|MYO5C_uc010ugb.2_Non-coding_Transcript	NM_018728	NP_061198	Q9NQX4	MYO5C_HUMAN	Homo sapiens myosin VC (MYO5C), mRNA.	599	Myosin head-like.					myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		TGAACCAAAAGGAGAAGGAGG	0.438000														74			8		0.000157383	0.000170012	1	1	0
C4B	721	broad.mit.edu	37	6	31997102	31997102	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31997102C>T	uc011dpd.2	+	27	3714	c.3663C>T	c.(3661-3663)gcC>gcT	p.A1221A	C4B_uc011dpe.2_Silent_p.A1221A	NM_001242823	NP_001229752	P0C0L5	CO4B_HUMAN	Homo sapiens complement C4-B-like (LOC100293534), mRNA.	1221					complement activation, classical pathway|inflammatory response|innate immune response	extracellular space	endopeptidase inhibitor activity										TGGCAATGGCCCAGGAGACTG	0.647000														17			12		0	0	1	0	0
CD1B	910	broad.mit.edu	37	1	158299264	158299264	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:158299264C>A	uc001frx.3	-	3	890	c.782G>T	c.(781-783)tGg>tTg	p.W261L	CD1B_uc001frw.3_Intron	NM_001764	NP_001755	P29016	CD1B_HUMAN	Homo sapiens CD1b molecule (CD1B), mRNA.	261	Ig-like.				antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding			breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					TCGGAGATACCATGTCCAGTT	0.597000														94			6		0.000157383	0.000170012	1	1	0
NHP2L1	4809	broad.mit.edu	37	22	42071031	42071031	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:42071031G>T	uc003bav.3	-	2	406	c.293C>A	c.(292-294)cCt>cAt	p.P98H	NHP2L1_uc003bat.3_Missense_Mutation_p.P98H	NM_001003796	NP_004999	P55769	NH2L1_HUMAN	Homo sapiens NHP2 non-histone chromosome protein 2-like 1 (S. cerevisiae) (NHP2L1), transcript variant 2, mRNA.	98					nuclear mRNA splicing, via spliceosome|ribosome biogenesis	box C/D snoRNP complex|nucleoplasm|spliceosomal complex	RNA binding|protein binding			endometrium(1)|kidney(1)|lung(1)|prostate(1)	4						GGCGATGACAGGCCTGGAGAC	0.537000														62			7		2.7689e-08	3.24273e-08	1	1	0
BRD1	23774	broad.mit.edu	37	22	50192750	50192750	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:50192750C>A	uc011arg.2	-	3	1718	c.1704G>T	c.(1702-1704)gaG>gaT	p.E568D	BRD1_uc011arf.2_Missense_Mutation_p.E109D|BRD1_uc021wrv.1_Non-coding_Transcript|BRD1_uc003biv.3_Missense_Mutation_p.E514D|BRD1_uc021wrw.1_Non-coding_Transcript|BRD1_uc003biu.4_Missense_Mutation_p.E514D	NM_014577	NP_055392	O95696	BRD1_HUMAN	Homo sapiens bromodomain containing 1 (BRD1), mRNA.	514					histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding	p.T568T(1)		endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		CAGCCTTCATCTCCTCATCAT	0.572000														42			4		0.00024832	0.000267289	1	1	0
ABCA8	10351	broad.mit.edu	37	17	66925236	66925236	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:66925236A>C	uc002jhq.3	-	8	1419	c.1079T>G	c.(1078-1080)aTt>aGt	p.I360S	ABCA8_uc002jhp.3_Missense_Mutation_p.I360S|ABCA8_uc010wqq.2_Missense_Mutation_p.I360S|ABCA8_uc010wqr.2_Missense_Mutation_p.I299S|ABCA8_uc002jhr.3_Missense_Mutation_p.I360S	NM_007168	NP_009099	O94911	ABCA8_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 8 (ABCA8), mRNA.	360						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					CAAGCTTAAAATCCACTCCAA	0.493000														19			14		0	0	1	0	0
C1RL	51279	broad.mit.edu	37	12	7249462	7249462	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:7249462T>C	uc001qsn.3	-	5	1082	c.989A>G	c.(988-990)cAg>cGg	p.Q330R	C1RL_uc009zft.3_3'UTR	NM_016546	NP_057630	Q9NZP8	C1RL_HUMAN	Homo sapiens complement component 1, r subcomponent-like (C1RL), mRNA.	330	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis		serine-type endopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GGACTCATTCTGACGGTAGTC	0.582000														32			27		0	0	1	0	0
KDM5C	8242	broad.mit.edu	37	X	53240002	53240002	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:53240002G>A	uc004drz.3	-	10	1972	c.1439C>T	c.(1438-1440)cCg>cTg	p.P480L	KDM5C_uc022bxe.1_Missense_Mutation_p.P413L|KDM5C_uc004dsa.3_Missense_Mutation_p.P479L	NM_004187	NP_004178	P41229	KDM5C_HUMAN	Homo sapiens lysine (K)-specific demethylase 5C (KDM5C), transcript variant 1, mRNA.	480	JmjC.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						TTCCAACACCGGCATCACATT	0.488000			"""N, F, S"""		clear cell renal carcinoma									53			5		0	0	1	0	0
ATP12A	479	broad.mit.edu	37	13	25276209	25276209	+	Splice_Site	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:25276209G>A	uc010aaa.3	+	14	2369	c.2036_splice	c.e14+1	p.R679_splice	ATP12A_uc001upp.3_Splice_Site_p.R673_splice	NM_001185085	NP_001172014	P54707	AT12A_HUMAN	Homo sapiens ATPase, H+/K+ transporting, nongastric, alpha polypeptide (ATP12A), transcript variant 1, mRNA.	673					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	GTTAACAAACGGTAAGCACAG	0.458000														31			21		0	0	1	0	0
EFNA3	1944	broad.mit.edu	37	1	155058919	155058919	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155058919C>T	uc001fhf.3	+	4	687	c.617C>T	c.(616-618)cCc>cTc	p.P206L	EFNA3_uc010pew.2_Missense_Mutation_p.P201L|EFNA3_uc010pex.2_Missense_Mutation_p.P180L	NM_004952	NP_004943	P52797	EFNA3_HUMAN	Homo sapiens ephrin-A3 (EFNA3), mRNA.	206					cell-cell signaling	anchored to membrane|integral to plasma membrane	ephrin receptor binding|transmembrane-ephrin receptor activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(2)	5	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		all cancers(21;5.67e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000284)|LUSC - Lung squamous cell carcinoma(543;0.193)			CCTCAGGTGCCCAAGCTTGAG	0.627000											OREG0013850	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		40			42		0	0	1	0	0
FEZF1	389549	broad.mit.edu	37	7	121944301	121944301	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:121944301G>T	uc003vkd.3	-	0	265	c.191C>A	c.(190-192)tCt>tAt	p.S64Y	FEZF1_uc003vkc.3_Missense_Mutation_p.S64Y|LOC154860_uc010lko.2_Non-coding_Transcript	NM_001024613	NP_001019784	A0PJY2	FEZF1_HUMAN	Homo sapiens FEZ family zinc finger 1 (FEZF1), transcript variant 1, mRNA.	64					cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S64Y(2)		breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						GAGATGCAGAGAGTGCTTGGG	0.632000														94			35		1.36161e-19	1.75324e-19	1	1	0
CSNK1G2	1455	broad.mit.edu	37	19	1980185	1980185	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:1980185C>T	uc002lul.4	+	11	1753	c.1231C>T	c.(1231-1233)Ctg>Ttg	p.L411L	CSNK1G2_uc010dsu.3_Silent_p.L363L	NM_001319	NP_001310	P78368	KC1G2_HUMAN	Homo sapiens casein kinase 1, gamma 2 (CSNK1G2), mRNA.	411					Wnt receptor signaling pathway|sphingolipid metabolic process	cytosol	ATP binding|protein serine/threonine kinase activity	p.S410*(1)		endometrium(1)|kidney(1)|lung(3)|prostate(1)|skin(1)|stomach(1)	8		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GAGAAAATCGCTGCAGCGACA	0.657000														29			23		0	0	1	0	0
ZMAT3	64393	broad.mit.edu	37	3	178745246	178745246	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:178745246T>C	uc003fjg.3	-	4	954	c.623A>G	c.(622-624)aAc>aGc	p.N208S	ZMAT3_uc003fji.3_Missense_Mutation_p.N208S	NM_022470	NP_071915	Q9HA38	ZMAT3_HUMAN	Homo sapiens zinc finger, matrin-type 3 (ZMAT3), transcript variant 1, mRNA.	208					apoptosis|protein transport|regulation of growth|response to DNA damage stimulus|transmembrane transport	nucleolus	RNA binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(1)|skin(1)	14	all_cancers(143;3.31e-18)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;6.74e-27)|GBM - Glioblastoma multiforme(14;0.00448)|BRCA - Breast invasive adenocarcinoma(182;0.0527)			ATTTCTCCTGTTAGGCATCAT	0.403000														37			21		0	0	1	0	0
SMC5	23137	broad.mit.edu	37	9	72967143	72967143	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:72967143G>A	uc004ahr.2	+	24	3319	c.3202G>A	c.(3202-3204)Gtt>Att	p.V1068I	SMC5_uc011lry.1_Missense_Mutation_p.V213I	NM_015110	NP_055925	Q8IY18	SMC5_HUMAN	Homo sapiens structural maintenance of chromosomes 5 (SMC5), mRNA.	1068					DNA recombination|DNA repair	chromosome|nucleus	ATP binding			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(4)	35						AAAGATGACAGTTTTGTTTGT	0.378000														61			41		0	0	1	0	0
WFS1	7466	broad.mit.edu	37	4	6303631	6303631	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:6303631C>A	uc003giy.3	+	7	2275	c.2109C>A	c.(2107-2109)cgC>cgA	p.R703R	WFS1_uc003gix.3_Silent_p.R703R|WFS1_uc003giz.3_Silent_p.R521R	NM_001145853	NP_005996	O76024	WFS1_HUMAN	Homo sapiens Wolfram syndrome 1 (wolframin) (WFS1), transcript variant 2, mRNA.	703					ER overload response|ER-associated protein catabolic process|endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	ATPase binding|activating transcription factor binding|transporter activity|ubiquitin protein ligase binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		GGACCGGCCGCTTCAAGTACG	0.652000														18			10		1.58986e-06	1.80238e-06	1	1	0
ZNF442	79973	broad.mit.edu	37	19	12463807	12463807	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:12463807C>T	uc002mtr.1	-	3	811	c.200G>A	c.(199-201)tGt>tAt	p.C67Y	ZNF442_uc010xmk.1_Intron	NM_030824	NP_110451	Q9H7R0	ZN442_HUMAN	Homo sapiens zinc finger protein 442 (ZNF442), mRNA.	67	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	31						TTTACCTATACAGTCCAGGTT	0.418000														117			12		0	0	1	0	0
FGFR3	2261	broad.mit.edu	37	4	1800986	1800986	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:1800986C>A	uc003gdr.3	+	2	371	c.115C>A	c.(115-117)Ccg>Acg	p.P39T	FGFR3_uc003gdu.2_Missense_Mutation_p.P39T|FGFR3_uc003gds.3_Missense_Mutation_p.P39T|FGFR3_uc003gdq.3_Missense_Mutation_p.P39T|FGFR3_uc010icb.1_5'Flank|FGFR3_uc003gdt.1_5'Flank	NM_000142	NP_000133	P22607	FGFR3_HUMAN	Homo sapiens fibroblast growth factor receptor 3 (FGFR3), transcript variant 1, mRNA.	39	Ig-like C2-type 1.				JAK-STAT cascade|MAPKKK cascade|bone maturation|cell growth|insulin receptor signaling pathway|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding			NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	CACAGAAGTCCCGGGCCCAGA	0.682000		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome					84			7		8.12818e-05	8.84769e-05	1	1	0
ACAA1	30	broad.mit.edu	37	3	38164583	38164583	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:38164583C>T	uc003cht.3	-	11	1437	c.1230G>A	c.(1228-1230)ggG>ggA	p.G410G	ACAA1_uc003chu.3_Silent_p.G317G	NM_001607	NP_001598	P09110	THIK_HUMAN	Homo sapiens acetyl-CoA acyltransferase 1 (ACAA1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	410					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy	peroxisomal matrix	acetyl-CoA C-acyltransferase activity|protein binding			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	9				KIRC - Kidney renal clear cell carcinoma(284;0.0523)|Kidney(284;0.0657)		CCATTCCAGTCCCGATGCACA	0.567000														26			16		0	0	1	0	0
CDHR2	54825	broad.mit.edu	37	5	176016106	176016106	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:176016106C>T	uc021yie.1	+	21	3205	c.2931C>T	c.(2929-2931)gaC>gaT	p.D977D	CDHR2_uc003mem.2_Silent_p.D977D|CDHR2_uc003men.1_Silent_p.D977D	NM_001171976	NP_060145	Q9BYE9	CDHR2_HUMAN	Homo sapiens cadherin-related family member 2 (CDHR2), transcript variant 1, mRNA.	977	Cadherin 9.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						TCTCTAAGGACGGGGCCACCA	0.577000														146			84		0	0	1	0	0
MIA3	375056	broad.mit.edu	37	1	222838834	222838834	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:222838834G>A	uc001hnl.3	+	27	5606	c.5597G>A	c.(5596-5598)gGt>gAt	p.G1866D	MIA3_uc001hnm.3_Missense_Mutation_p.G744D	NM_198551	NP_940953	Q5JRA6	MIA3_HUMAN	Homo sapiens melanoma inhibitory activity family, member 3 (MIA3), mRNA.	1866	Pro-rich.				exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding	p.H1865N(1)		breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		CCAACCCATGGTCCCCAGGAA	0.537000														286			17		0	0	1	0	0
MLC1	23209	broad.mit.edu	37	22	50502619	50502619	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:50502619G>A	uc003bjg.1	-	10	1176	c.903C>T	c.(901-903)taC>taT	p.Y301Y	MLC1_uc011arl.1_Silent_p.Y249Y|MLC1_uc003bjh.1_Silent_p.Y301Y|MLC1_uc011arm.1_Silent_p.Y271Y|MLC1_uc011arn.1_Silent_p.Y222Y|MLC1_uc011aro.1_Silent_p.Y267Y	NM_139202	NP_631941	Q15049	MLC1_HUMAN	Homo sapiens megalencephalic leukoencephalopathy with subcortical cysts 1 (MLC1), transcript variant 2, mRNA.	301						basolateral plasma membrane|endosome|integral to membrane|integral to membrane of membrane fraction	ion channel activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(3)	18		all_cancers(38;7.69e-11)|all_epithelial(38;9.52e-10)|all_lung(38;3.67e-05)|Breast(42;0.000776)|Lung NSC(38;0.000946)|Ovarian(80;0.0365)|Lung SC(80;0.113)		READ - Rectum adenocarcinoma(2;0.000669)|Colorectal(2;0.00242)|LUAD - Lung adenocarcinoma(64;0.0695)|BRCA - Breast invasive adenocarcinoma(115;0.216)		gcagcaCATCGTAGGATGGCT	0.652000														7			5		0	0	1	0	0
TACC3	10460	broad.mit.edu	37	4	1729693	1729693	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:1729693C>A	uc003gdo.3	+	3	719	c.564C>A	c.(562-564)tcC>tcA	p.S188S	TACC3_uc010ibz.3_Silent_p.S188S|TACC3_uc003gdp.3_Intron	NM_006342	NP_006333	Q9Y6A5	TACC3_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 3 (TACC3), mRNA.	188						centrosome				central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			ACCTTAGTTCCTATTCCTTAG	0.557000														38			7		0.248553	0.249802	1	1	0
KIF4A	24137	broad.mit.edu	37	X	69637830	69637830	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:69637830G>T	uc004dyg.3	+	28	3491	c.3348G>T	c.(3346-3348)aaG>aaT	p.K1116N	KIF4A_uc010nkw.3_Missense_Mutation_p.K1116N	NM_012310	NP_036442	O95239	KIF4A_HUMAN	Homo sapiens kinesin family member 4A (KIF4A), mRNA.	1116	Globular.|Interaction with PRC1.				anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization	chromosome|cytosol|midbody|nuclear matrix|spindle microtubule	ATP binding|DNA binding|microtubule motor activity|protein binding			breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						ACCCCACAAAGTGTCGGAACC	0.532000														34			23		1.85244e-09	2.20857e-09	1	1	0
PSAT1	29968	broad.mit.edu	37	9	80921249	80921249	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:80921249C>A	uc004ala.3	+	4	485	c.417C>A	c.(415-417)acC>acA	p.T139T	PSAT1_uc004alb.3_Silent_p.T139T	NM_058179	NP_478059	Q9Y617	SERC_HUMAN	Homo sapiens phosphoserine aminotransferase 1 (PSAT1), transcript variant 1, mRNA.	139					L-serine biosynthetic process|pyridoxine biosynthetic process		O-phospho-L-serine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1)	20					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)	ATCCAAGCACCTGGAACCTCA	0.463000														259			29		8.58068e-18	1.09608e-17	1	1	0
TRIM51	84767	broad.mit.edu	37	11	55658726	55658726	+	Missense_Mutation	SNP	A	T	T	rs143743456		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:55658726A>T	uc010rip.2	+	6	1069	c.977A>T	c.(976-978)gAa>gTa	p.E326V	TRIM51_uc010riq.2_Missense_Mutation_p.E183V	NM_032681	NP_116070	Q9BSJ1	SPRY5_HUMAN	Homo sapiens SPRY domain containing 5 (SPRYD5), mRNA.	326	B30.2/SPRY.					intracellular	zinc ion binding										GGAAAATCTGAATGTTTTCTT	0.438000														136			11		0	0	1	0	0
BEND2	139105	broad.mit.edu	37	X	18195787	18195787	+	Missense_Mutation	SNP	C	T	T	rs146293624		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:18195787C>T	uc004cyj.4	-	9	1686	c.1532G>A	c.(1531-1533)cGt>cAt	p.R511H	BEND2_uc010nfb.2_Missense_Mutation_p.R420H	NM_153346	NP_699177	Q8NDZ0	BEND2_HUMAN	Homo sapiens BEN domain containing 2 (BEND2), transcript variant 1, mRNA.	511	BEN 1.									NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						GAACAAAATACGAACCAAGTA	0.428000														228			159		0	0	1	0	0
PHLDB1	23187	broad.mit.edu	37	11	118514793	118514793	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:118514793G>A	uc001ptr.2	+	15	3375	c.3022G>A	c.(3022-3024)Gct>Act	p.A1008T	PHLDB1_uc001pts.3_Missense_Mutation_p.A1008T|PHLDB1_uc001ptt.3_Missense_Mutation_p.A961T|PHLDB1_uc001ptu.2_Non-coding_Transcript|PHLDB1_uc001ptv.2_Missense_Mutation_p.A808T|PHLDB1_uc001ptw.2_Missense_Mutation_p.A363T|PHLDB1_uc009zai.2_Missense_Mutation_p.A44T|PHLDB1_uc001ptx.2_Missense_Mutation_p.A44T|PHLDB1_uc010ryi.1_Missense_Mutation_p.A151T|PHLDB1_uc010ryj.1_Missense_Mutation_p.A146T	NM_015157	NP_055972	Q86UU1	PHLB1_HUMAN	Homo sapiens pleckstrin homology-like domain, family B, member 1 (PHLDB1), transcript variant 1, mRNA.	1008										breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		TCTGCAGAGCGCTCTACTCAC	0.612000														15			12		0	0	1	0	0
LOC100133308	100133308	broad.mit.edu	37	10	45602492	45602492	+	RNA	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:45602492T>C	uc001jby.3	-	0		c.945A>G			LOC100133308_uc001jbz.3_Non-coding_Transcript|LOC100133308_uc009xmq.2_Non-coding_Transcript					Homo sapiens Ras suppressor protein 1 pseudogene (LOC100133308), non-coding RNA.																		TGGCAGGATTTCAAAACCGTT	0.418000														26			3		0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76482147	76482147	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:76482147C>T	uc010dhp.2	-	45	7295	c.7170G>A	c.(7168-7170)tcG>tcA	p.S2390S		NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TCGTTCCCTGCGAGGGGAACT	0.463000														31			26		0	0	1	0	0
KIAA1598	57698	broad.mit.edu	37	10	118700088	118700088	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:118700088G>A	uc021pzk.1	-	8	1245	c.747C>T	c.(745-747)agC>agT	p.S249S	KIAA1598_uc009xyw.3_Silent_p.S249S|KIAA1598_uc001lcz.4_Silent_p.S249S|KIAA1598_uc010qso.2_Silent_p.S189S|KIAA1598_uc010qsp.1_Silent_p.S249S|KIAA1598_uc010qsq.1_Silent_p.S189S|KIAA1598_uc001lcy.4_Silent_p.S219S	NM_018330	NP_060800	A0MZ66	SHOT1_HUMAN	Homo sapiens KIAA1598 (KIAA1598), transcript variant 2, mRNA.	249					axon guidance	axon				endometrium(1)|kidney(1)|large_intestine(5)|lung(3)	10				all cancers(201;0.00494)		GCAGAAGGTGGCTTTGTCTCT	0.398000														47			30		0	0	1	0	0
TNFSF15	9966	broad.mit.edu	37	9	117555845	117555845	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:117555845G>T	uc004bjh.3	-	1	330	c.214C>A	c.(214-216)Cta>Ata	p.L72I	TNFSF15_uc004bjg.3_5'Flank	NM_005118	NP_005109	O95150	TNF15_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 15 (TNFSF15), transcript variant 1, mRNA.	72		Cleavage.			activation of NF-kappaB-inducing kinase activity|activation of caspase activity|cytokine metabolic process|immune response	extracellular space|integral to plasma membrane	cytokine activity|tumor necrosis factor receptor binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(1)	11						TGTCCTTTTAGAGCCTATTGG	0.418000														89			13		9.05144e-12	1.10939e-11	1	1	0
CYB561	1534	broad.mit.edu	37	17	61511949	61511949	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:61511949C>A	uc002jaq.3	-	5	731	c.708G>T	c.(706-708)aaG>aaT	p.K236N	CYB561_uc002jap.3_Missense_Mutation_p.K190N|CYB561_uc002jar.3_Missense_Mutation_p.K190N|CYB561_uc002jas.3_Missense_Mutation_p.K190N|CYB561_uc010ddt.3_3'UTR|CYB561_uc002jat.3_Missense_Mutation_p.K190N|CYB561_uc010wpf.2_Missense_Mutation_p.V138L|CYB561_uc010wpg.2_Missense_Mutation_p.K161N	NM_001915	NP_001906	P49447	CY561_HUMAN	Homo sapiens cytochrome b-561 (CYB561), transcript variant 1, mRNA.	190					electron transport chain|transport	integral to plasma membrane	cytochrome-b5 reductase activity|ferric-chelate reductase activity|metal ion binding			lung(2)|ovary(1)|prostate(1)	4				READ - Rectum adenocarcinoma(1115;0.0689)		ATGCGCTATACTTGCCCCTGC	0.602000														9			4		0.150653	0.152248	1	1	0
GAA	2548	broad.mit.edu	37	17	78092019	78092019	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:78092019C>T	uc002jxp.3	+	17	2876	c.2509C>T	c.(2509-2511)Cgc>Tgc	p.R837C	GAA_uc002jxo.3_Missense_Mutation_p.R837C|GAA_uc002jxq.3_Missense_Mutation_p.R837C	NM_000152	NP_001073272	P10253	LYAG_HUMAN	Homo sapiens glucosidase, alpha; acid (GAA), transcript variant 1, mRNA.	837					cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)	CACAGAGTCCCGCCAGCAGCC	0.667000														42			18		0	0	1	0	0
OR5D14	219436	broad.mit.edu	37	11	55563455	55563455	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:55563455C>T	uc010rim.2	+	0	424	c.424C>T	c.(424-426)Ctc>Ttc	p.L142F		NM_001004735	NP_001004735	Q8NGL3	OR5DE_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 14 (OR5D14), mRNA.	142					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				GTCACAGAGGCTCTGTGCCCT	0.522000														45			41		0	0	1	0	0
TRIML1	339976	broad.mit.edu	37	4	189063519	189063519	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:189063519G>T	uc003izm.1	+	2	733	c.618G>T	c.(616-618)gaG>gaT	p.E206D	TRIML1_uc003izn.1_5'Flank	NM_178556	NP_848651	Q8N9V2	TRIML_HUMAN	Homo sapiens tripartite motif family-like 1 (TRIML1), mRNA.	206					multicellular organismal development		ligase activity|zinc ion binding			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		AAGAGAAAGAGAACATGAGGA	0.448000														35			8		0.000157383	0.000170012	1	1	0
KIAA1549	57670	broad.mit.edu	37	7	138588381	138588381	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:138588381G>A	uc011kql.2	-	7	3671	c.3622C>T	c.(3622-3624)Cgg>Tgg	p.R1208W	KIAA1549_uc011kqj.2_Missense_Mutation_p.R1208W	NM_001164665	NP_001158137	Q9HCM3	K1549_HUMAN	Homo sapiens KIAA1549 (KIAA1549), transcript variant 2, mRNA.	1208						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						CTCCACATCCGCCTTCTGGTG	0.572000			O	BRAF	pilocytic astrocytoma									11			16		0	0	1	0	0
NOS3	4846	broad.mit.edu	37	7	150711138	150711138	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:150711138C>T	uc003wif.3	+	26	3789	c.3493C>T	c.(3493-3495)Cgc>Tgc	p.R1165C	NOS3_uc011kuy.2_Missense_Mutation_p.R959C|ATG9B_uc003wig.4_Intron|ATG9B_uc011kvc.2_Intron	NM_000603	NP_000594	P29474	NOS3_HUMAN	Homo sapiens nitric oxide synthase 3 (endothelial cell) (NOS3), transcript variant 1, mRNA.	1165					anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	Golgi membrane|caveola|cytoskeleton|cytosol	FMN binding|NADP binding|actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	GCTCACGCTGCGCACCCAGGA	0.617000														19			17		0	0	1	0	0
THAP4	51078	broad.mit.edu	37	2	242542409	242542409	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:242542409C>T	uc002wbt.3	-	3	1779	c.1486G>A	c.(1486-1488)Gcc>Acc	p.A496T	THAP4_uc002wbs.3_Missense_Mutation_p.A84T	NM_015963	NP_057047	Q8WY91	THAP4_HUMAN	Homo sapiens THAP domain containing 4 (THAP4), transcript variant 1, mRNA.	496							DNA binding|metal ion binding			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	9		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844)		CTGACAAAGGCCACCTTGTTG	0.632000														33			23		0	0	1	0	0
NCAPD2	9918	broad.mit.edu	37	12	6619249	6619249	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:6619249G>A	uc001qoo.2	+	3	258	c.212G>A	c.(211-213)cGa>cAa	p.R71Q	NCAPD2_uc009zen.1_Intron|NCAPD2_uc010sfd.1_Intron|SCARNA10_uc009zeo.1_5'Flank	NM_014865	NP_055680	Q15021	CND1_HUMAN	Homo sapiens non-SMC condensin I complex, subunit D2 (NCAPD2), mRNA.	71	Interactions with SMC2 and SMC4.				cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						AGTCACTTTCGAAGTATAGAT	0.463000														27			6		0	0	1	0	0
CYP1A1	1543	broad.mit.edu	37	15	75014932	75014932	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:75014932G>A	uc002ayp.4	-	1	629	c.507C>T	c.(505-507)gtC>gtT	p.V169V	CYP1A1_uc010bjy.3_Silent_p.V169V|CYP1A1_uc010bju.3_Intron|CYP1A1_uc010bjv.3_Non-coding_Transcript|CYP1A1_uc010bjw.3_Non-coding_Transcript|CYP1A1_uc010bjx.3_Intron|CYP1A1_uc002ayq.4_Silent_p.V169V|CYP1A1_uc010bjz.1_Intron|CYP1A1_uc021sqk.1_Silent_p.V169V	NM_000499	NP_000490	P04798	CP1A1_HUMAN	Homo sapiens cytochrome P450, family 1, subfamily A, polypeptide 1 (CYP1A1), mRNA.	169					cellular lipid metabolic process|drug metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|vitamin D 24-hydroxylase activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Arsenic trioxide(DB01169)|Benzphetamine(DB00865)|Bleomycin(DB00290)|Chlorzoxazone(DB00356)|Dacarbazine(DB00851)|Dactinomycin(DB00970)|Esomeprazole(DB00736)|Estrone(DB00655)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Ginseng(DB01404)|Granisetron(DB00889)|Ketoconazole(DB01026)|Menadione(DB00170)|Picrotoxin(DB00466)|Primaquine(DB01087)|Quinidine(DB00908)|Quinine(DB00468)|Thiabendazole(DB00730)	TGCTTATCAGGACCTCAGCCT	0.547000									Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia					70			37		0	0	1	0	0
MERTK	10461	broad.mit.edu	37	2	112686866	112686866	+	Silent	SNP	C	T	T	rs137909193	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:112686866C>T	uc002thk.1	+	1	353	c.231C>T	c.(229-231)aaC>aaT	p.N77N	MERTK_uc002thl.1_5'UTR|Metazoa_SRP_uc021vmv.1_5'Flank	NM_006343	NP_006334	Q12866	MERTK_HUMAN	Homo sapiens c-mer proto-oncogene tyrosine kinase (MERTK), mRNA.	77					cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						ATACAGGAAACGTAGCCATTC	0.507000														23			7		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140719530	140719530	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140719530C>T	uc003ljk.2	+	0	1177	c.992C>T	c.(991-993)gCg>gTg	p.A331V	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc011dao.2_Missense_Mutation_p.A331V	NM_018915	NP_061738	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 2 (PCDHGA2), transcript variant 1, mRNA.	334	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.A331V(2)		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)			CTAACCAGAGCGAAGGTTATC	0.433000														124			77		0	0	1	0	0
FOXN1	8456	broad.mit.edu	37	17	26861379	26861379	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:26861379C>T	uc010crm.3	+	6	1156	c.958C>T	c.(958-960)Cgg>Tgg	p.R320W	FOXN1_uc002hbj.3_Missense_Mutation_p.R320W	NM_003593	NP_003584	O15353	FOXN1_HUMAN	Homo sapiens forkhead box N1 (FOXN1), mRNA.	320					defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA 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	p.R320Q(1)|p.R320R(1)		endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Lung NSC(42;0.00431)					GAATTCTGTCCGGCACAACCT	0.572000														41			26		0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139155321	139155321	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:139155321G>A	uc003yuy.3	-	15	3743	c.3572C>T	c.(3571-3573)aCg>aTg	p.T1191M	FAM135B_uc003yux.3_Missense_Mutation_p.T1092M|FAM135B_uc003yuz.3_Non-coding_Transcript|FAM135B_uc003yva.3_Missense_Mutation_p.T753M|FAM135B_uc003yvb.3_3'UTR	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	1191								p.T1191T(1)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TAACCGATCCGTCATAGTATC	0.463000										HNSCC(54;0.14)				24			19		0	0	1	0	0
MEN1	4221	broad.mit.edu	37	11	64575411	64575411	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:64575411G>A	uc001obj.3	-	2	694	c.621C>T	c.(619-621)ggC>ggT	p.G207G	MEN1_uc001obk.3_Silent_p.G207G|MEN1_uc001obl.3_Intron|MEN1_uc001obm.3_Silent_p.G202G|MEN1_uc001obn.3_Silent_p.G207G|MEN1_uc001obo.3_Silent_p.G207G|MEN1_uc001obq.3_Silent_p.G207G|MEN1_uc001obr.3_Silent_p.G207G	NM_130800	NP_570716	O00255	MEN1_HUMAN	Homo sapiens multiple endocrine neoplasia I (MEN1), transcript variant e1B, mRNA.	207					DNA repair|MAPKKK cascade|histone lysine methylation|negative regulation of JNK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to UV|response to gamma radiation|transcription, DNA-dependent	chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction	R-SMAD binding|Y-form DNA binding|double-stranded DNA binding|four-way junction DNA binding|protein N-terminus binding|protein binding, bridging|transcription regulatory region DNA binding			NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						GGTCCTCGTTGCCCTTGCCGT	0.622000			"""D, Mis, N, F, S"""		"""parathyroid tumors, Pancreatic neuroendocrine tumors"""	"""parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"""			Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated					23			17		0	0	1	0	0
ABCC5	10057	broad.mit.edu	37	3	183660584	183660584	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:183660584C>T	uc003fmg.3	-	24	3790	c.3625G>A	c.(3625-3627)Gtc>Atc	p.V1209I	ABCC5_uc011bqt.2_Missense_Mutation_p.V737I|ABCC5_uc010hxl.3_Missense_Mutation_p.V1166I	NM_005688	NP_005679	O15440	MRP5_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 5 (ABCC5), transcript variant 1, mRNA.	1209	ABC transporter 2.					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			TTCTTTAGGACGAGAGGGAGG	0.502000														39			23		0	0	1	0	0
OR6C74	254783	broad.mit.edu	37	12	55641851	55641851	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:55641851C>A	uc010spg.2	+	0	780	c.780C>A	c.(778-780)ccC>ccA	p.P260P		NM_001005490	NP_001005490	A6NCV1	O6C74_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 74 (OR6C74), mRNA.	260					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.K259R(1)		central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	12						ATGTGAAACCCTCAGCAAAAG	0.403000														81			6		0.0215528	0.0220531	1	1	0
FLI1	2313	broad.mit.edu	37	11	128680652	128680652	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:128680652G>A	uc010sbu.2	+	8	1471	c.1128G>A	c.(1126-1128)tcG>tcA	p.S376S	FLI1_uc010sbt.2_Silent_p.S183S|FLI1_uc010sbv.2_Silent_p.S343S|FLI1_uc009zci.3_Silent_p.S310S	NM_002017	NP_001161153	Q01543	FLI1_HUMAN	Homo sapiens Friend leukemia virus integration 1 (FLI1), transcript variant 1, mRNA.	376					hemostasis|organ morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		EWSR1/FLI1(2569)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)		CGACCGAGTCGTCCATGTACA	0.498000			T	EWSR1	Ewing sarcoma									16			21		0	0	1	0	0
ATAD5	79915	broad.mit.edu	37	17	29184017	29184017	+	Missense_Mutation	SNP	A	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:29184017A>T	uc002hfs.1	+	7	3023	c.2680A>T	c.(2680-2682)Act>Tct	p.T894S	ATAD5_uc002hft.1_Missense_Mutation_p.T791S	NM_024857	NP_079133	Q96QE3	ATAD5_HUMAN	Homo sapiens ATPase family, AAA domain containing 5 (ATAD5), mRNA.	894					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				TCCTCTCTTAACTAAATTTAA	0.308000														38			6		0	0	1	0	0
CD3D	915	broad.mit.edu	37	11	118211282	118211282	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:118211282C>T	uc001pss.1	-	1	219	c.82G>A	c.(82-84)Gaa>Aaa	p.E28K	CD3D_uc001pst.1_Missense_Mutation_p.E28K|CD3D_uc021qrf.1_Intron	NM_000732	NP_000723	P04234	CD3D_HUMAN	Homo sapiens CD3d molecule, delta (CD3-TCR complex) (CD3D), transcript variant 1, mRNA.	28					T cell costimulation|T cell receptor signaling pathway|positive thymic T cell selection	cytoplasm|integral to membrane	protein heterodimerization activity			large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	9	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)		TCCTCAAGTTCCTCTATAGGT	0.478000														23			11		0	0	1	0	0
SPRY1	10252	broad.mit.edu	37	4	124323307	124323307	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:124323307C>T	uc003ifa.3	+	1	748	c.561C>T	c.(559-561)tgC>tgT	p.C187C	SPRY1_uc003ifb.3_Silent_p.C187C|SPRY1_uc021xro.1_Silent_p.C187C	NM_199327	NP_955359	O43609	SPY1_HUMAN	Homo sapiens sprouty homolog 1, antagonist of FGF signaling (Drosophila) (SPRY1), transcript variant 2, mRNA.	187	Cys-rich.|SPR.				epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|lamellipodium|plasma membrane				NS(1)|large_intestine(4)|lung(2)|ovary(1)|skin(3)	11						GTGGGAAGTGCAAGTGTGGAG	0.522000														43			26		0	0	1	0	0
ZNF167	55888	broad.mit.edu	37	3	44611871	44611871	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:44611871C>A	uc003cnj.3	+	5	1685	c.1269C>A	c.(1267-1269)acC>acA	p.T423T	ZNF167_uc003cnk.3_Intron|ZNF167_uc003cnh.3_Non-coding_Transcript|ZNF167_uc010hin.3_Silent_p.T423T|ZNF167_uc003cni.3_Intron|ZNF167_uc010hio.3_Silent_p.T272T	NM_018651	NP_061121	Q9P0L1	ZN167_HUMAN	Homo sapiens zinc finger protein 167 (ZNF167), transcript variant 1, mRNA.	423					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(4)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29				KIRC - Kidney renal clear cell carcinoma(197;0.0486)|Kidney(197;0.0609)		TCAGGCAAACCTCCCAGCTCA	0.478000														26			12		7.03913e-09	8.30711e-09	1	1	0
ERMP1	79956	broad.mit.edu	37	9	5812154	5812154	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:5812154C>A	uc003zjm.1	-	5	1139	c.1085G>T	c.(1084-1086)aGa>aTa	p.R362I	ERMP1_uc022bdc.1_Non-coding_Transcript|ERMP1_uc022bdd.1_Non-coding_Transcript|ERMP1_uc010mhs.1_5'UTR	NM_024896	NP_079172	Q7Z2K6	ERMP1_HUMAN	Homo sapiens endoplasmic reticulum metallopeptidase 1 (ERMP1), mRNA.	362					proteolysis	endoplasmic reticulum membrane|integral to membrane	metal ion binding|metallopeptidase activity			endometrium(2)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|skin(1)	20		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00115)|Lung(218;0.111)		TGTTAGAATTCTGTCCGCTGT	0.313000														92			6		0.0293803	0.0299714	1	1	0
KCNMB2	10242	broad.mit.edu	37	3	178543541	178543541	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:178543541G>A	uc003fjd.3	+	2	565	c.222G>A	c.(220-222)atG>atA	p.M74I	AF279780_uc003fjb.1_Intron|AF279780_uc003fjc.1_Intron|KCNMB2_uc003fje.3_Missense_Mutation_p.M74I|KCNMB2_uc003fjf.3_Missense_Mutation_p.M74I|KCNMB2_uc011bqa.2_Intron|KCNMB2_uc011bqb.2_Intron	NM_181361	NP_852006	Q9Y691	KCMB2_HUMAN	Homo sapiens potassium large conductance calcium-activated channel, subfamily M, beta member 2 (KCNMB2), transcript variant 1, mRNA.	74					detection of calcium ion|platelet activation|regulation of action potential in neuron|regulation of vasoconstriction	voltage-gated potassium channel complex	calcium-activated potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity			NS(2)|endometrium(4)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	12	all_cancers(143;5.38e-18)|Ovarian(172;0.00769)|Breast(254;0.125)		OV - Ovarian serous cystadenocarcinoma(80;1.32e-27)|GBM - Glioblastoma multiforme(14;0.0321)|BRCA - Breast invasive adenocarcinoma(182;0.0841)			GCTCATACATGCAGAGGTAAT	0.532000														151			10		0	0	1	0	0
KIAA1199	57214	broad.mit.edu	37	15	81212433	81212433	+	Splice_Site	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:81212433A>G	uc002bfw.1	+	14	2058	c.1798_splice	c.e14-2	p.I600_splice	KIAA1199_uc010unn.1_Splice_Site_p.I600_splice	NM_018689	NP_061159	Q8WUJ3	K1199_HUMAN	Homo sapiens KIAA1199 (KIAA1199), mRNA.	600										breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						TGACCCCTGCAGATCAAGGAC	0.483000														28			14		0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185802362	185802362	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:185802362C>T	uc002uph.3	+	3	2833	c.2239C>T	c.(2239-2241)Cac>Tac	p.H747Y		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	Homo sapiens zinc finger protein 804A (ZNF804A), mRNA.	747			H -> R (in dbSNP:rs12477430).			intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TGATATGAAACACATGAGTCA	0.328000														40			19		0	0	1	0	0
CACNA2D4	93589	broad.mit.edu	37	12	1909168	1909168	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:1909168T>C	uc021qsx.1	-	32	3203	c.2972A>G	c.(2971-2973)gAg>gGg	p.E991G	CACNA2D4_uc009zds.2_Non-coding_Transcript|CACNA2D4_uc021qsy.1_Missense_Mutation_p.E58G|CACNA2D4_uc021qsz.1_Missense_Mutation_p.E121G|CACNA2D4_uc009zdr.2_Non-coding_Transcript	NM_172364	NP_758952	Q7Z3S7	CA2D4_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 4 (CACNA2D4), mRNA.	991						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		GCACTCACCCTCGGCCCCTCT	0.602000														6			5		0	0	1	0	0
BFAR	51283	broad.mit.edu	37	16	14743744	14743744	+	Silent	SNP	G	A	A	rs142851831		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:14743744G>A	uc002dco.3	+	3	833	c.552G>A	c.(550-552)gcG>gcA	p.A184A	BFAR_uc010uzh.2_Silent_p.A56A	NM_016561	NP_057645	Q9NZS9	BFAR_HUMAN	Homo sapiens bifunctional apoptosis regulator (BFAR), mRNA.	184	SAM.				anti-apoptosis|apoptosis	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	structural molecule activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	11						AATGGACGGCGGAAGAAGTTG	0.537000														31			23		0	0	1	0	0
WDR63	126820	broad.mit.edu	37	1	85559185	85559185	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:85559185T>G	uc001dkt.3	+	8	1093	c.902T>G	c.(901-903)aTt>aGt	p.I301S	WDR63_uc009wcl.3_Missense_Mutation_p.I262S	NM_145172	NP_660155	Q8IWG1	WDR63_HUMAN	Homo sapiens WD repeat domain 63 (WDR63), mRNA.	301										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		AACACATTTATTGATGACTGG	0.373000														140			9		0	0	1	0	0
ZNF230	7773	broad.mit.edu	37	19	44515547	44515547	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:44515547C>A	uc002oyb.1	+	4	1607	c.1356C>A	c.(1354-1356)gaC>gaA	p.D452E		NM_006300	NP_006291	Q9UIE0	ZN230_HUMAN	Homo sapiens zinc finger protein 230 (ZNF230), mRNA.	452					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)|stomach(3)|urinary_tract(2)	22		Prostate(69;0.0352)				AATGTGAGGACTGTGGGAAGC	0.378000														42			19		1.64113e-05	1.8176e-05	1	1	0
COMMD9	29099	broad.mit.edu	37	11	36296317	36296317	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:36296317T>G	uc001mwn.4	-	5	499	c.462A>C	c.(460-462)caA>caC	p.Q154H	COMMD9_uc009ykj.3_Missense_Mutation_p.Q112H	NM_014186	NP_054905	Q9P000	COMD9_HUMAN	Homo sapiens COMM domain containing 9 (COMMD9), transcript variant 1, mRNA.	154	COMM.									kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	5	all_lung(20;0.211)	all_hematologic(20;0.107)				TGGGATCTTCTTGGATCTGAA	0.537000														63			8		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179446770	179446770	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179446770G>T	uc021vsy.1	-	263	58847	c.58622C>A	c.(58621-58623)cCt>cAt	p.P19541H	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.P13236H|TTN_uc021vta.1_Missense_Mutation_p.P13169H|TTN_uc021vtb.1_Missense_Mutation_p.P13044H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	20468	Ig-like 109.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.P19539H(1)|p.P13236H(1)|p.P13236N(1)|p.P13169N(1)|p.P19541N(1)|p.P19541H(1)|p.P13044N(1)|p.P19539N(1)|p.P13044H(1)|p.P13169H(1)		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)			TTCTATAATAGGTTTTCTGTT	0.448000														144			8		0.000442599	0.000473562	1	1	0
ACACA	31	broad.mit.edu	37	17	35601596	35601596	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:35601596C>T	uc002hnm.3	-	20	2730	c.2539G>A	c.(2539-2541)Gag>Aag	p.E847K	ACACA_uc002hnk.3_Missense_Mutation_p.E769K|ACACA_uc002hnl.3_Missense_Mutation_p.E789K|ACACA_uc002hnn.3_Missense_Mutation_p.E847K|ACACA_uc002hno.3_Missense_Mutation_p.E884K|ACACA_uc010cuz.3_Missense_Mutation_p.E847K	NM_198836	NP_942135	Q13085	ACACA_HUMAN	Homo sapiens acetyl-CoA carboxylase alpha (ACACA), transcript variant 3, mRNA.	847					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	ATP binding|acetyl-CoA carboxylase activity|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TGGAGTTTCTCGCCTCTGAGT	0.453000														47			28		0	0	1	0	0
ZNF232	7775	broad.mit.edu	37	17	5009499	5009499	+	Missense_Mutation	SNP	C	T	T	rs140021055		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:5009499C>T	uc002gat.3	-	4	1610	c.955G>A	c.(955-957)Gtt>Att	p.V319I	ZNF232_uc002gar.1_Missense_Mutation_p.V310I	NM_014519	NP_055334	Q9UNY5	ZN232_HUMAN	Homo sapiens zinc finger protein 232 (ZNF232), mRNA.	292					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|prostate(2)	11						TGGTGGACAACAAGATGTGAG	0.413000														74			55		0	0	1	0	0
TIAM2	26230	broad.mit.edu	37	6	155451209	155451209	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:155451209C>T	uc003qqb.3	+	5	2125	c.852C>T	c.(850-852)ggC>ggT	p.G284G	TIAM2_uc003qqe.3_Silent_p.G284G	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN	Homo sapiens T-cell lymphoma invasion and metastasis 2 (TIAM2), transcript variant 1, mRNA.	284					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	Rho guanyl-nucleotide exchange factor activity|receptor signaling protein activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		TCCCACCTGGCGATGCCAAAA	0.622000														50			6		0	0	1	0	0
LMTK2	22853	broad.mit.edu	37	7	97822889	97822889	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:97822889G>A	uc003upd.2	+	10	3405	c.3112G>A	c.(3112-3114)Gag>Aag	p.E1038K		NM_014916	NP_055731	Q8IWU2	LMTK2_HUMAN	Homo sapiens lemur tyrosine kinase 2 (LMTK2), mRNA.	1038					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	Golgi apparatus|early endosome|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					AGAGAACTTGGAGTCTCCCGA	0.617000														28			36		0	0	1	0	0
FAM188B	84182	broad.mit.edu	37	7	30876364	30876364	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:30876364A>G	uc003tbt.3	+	6	1300	c.1223A>G	c.(1222-1224)gAc>gGc	p.D408G	FAM188B_uc010kwe.3_Missense_Mutation_p.D379G	NM_032222	NP_115598	Q4G0A6	F188B_HUMAN	Homo sapiens family with sequence similarity 188, member B (FAM188B), mRNA.	408								p.I407V(1)		endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AAACCAATTGACCTCTCAGTA	0.448000														91			35		0	0	1	0	0
POM121L12	285877	broad.mit.edu	37	7	53103889	53103889	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:53103889G>T	uc003tpz.3	+	0	541	c.525G>T	c.(523-525)cgG>cgT	p.R175R		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA.	175								p.R175W(1)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CCTGCACCCGGGAGACTCTGC	0.716000														31			5		0.00116845	0.00123466	1	1	0
TMEM87B	84910	broad.mit.edu	37	2	112834827	112834827	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:112834827C>T	uc002thm.2	+	5	929	c.560C>T	c.(559-561)aCg>aTg	p.T187M	TMEM87B_uc010fkg.2_Missense_Mutation_p.T170M|TMEM87B_uc010fkh.2_Intron	NM_032824	NP_116213	Q96K49	TM87B_HUMAN	Homo sapiens transmembrane protein 87B (TMEM87B), mRNA.	187						integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)	19						TCTATTAAAACGGAGAATACA	0.318000														35			23		0	0	1	0	0
FARS2	10667	broad.mit.edu	37	6	5545496	5545496	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:5545496C>T	uc010jnv.1	+	4	1324	c.988C>T	c.(988-990)Cgt>Tgt	p.R330C	FARS2_uc003mwr.2_Missense_Mutation_p.R330C	NM_006567	NP_006558	O95363	SYFM_HUMAN	Homo sapiens phenylalanyl-tRNA synthetase 2, mitochondrial (FARS2), nuclear gene encoding mitochondrial protein, mRNA.	330					phenylalanyl-tRNA aminoacylation|tRNA processing	mitochondrial matrix|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding	p.R330H(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)|stomach(2)	15	Ovarian(93;0.11)	all_hematologic(90;0.0104)			L-Phenylalanine(DB00120)	CCCTGATATCCGTCTCTTCTG	0.473000														119			73		0	0	1	0	0
CEBPE	1053	broad.mit.edu	37	14	23586947	23586947	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:23586947C>T	uc001wiv.2	-	1	1115	c.595G>A	c.(595-597)Gca>Aca	p.A199T		NM_001805	NP_001796	Q15744	CEBPE_HUMAN	Homo sapiens CCAAT/enhancer binding protein (C/EBP), epsilon (CEBPE), mRNA.	199						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)	9	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.0064)		TTGTTCACTGCCTTCTTGCCC	0.647000														67			29		0	0	1	0	0
C11orf82	220042	broad.mit.edu	37	11	82644869	82644869	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:82644869C>A	uc001ozt.3	+	5	2733	c.2489C>A	c.(2488-2490)cCt>cAt	p.P830H	C11orf82_uc010rsr.2_Missense_Mutation_p.P529H|C11orf82_uc010rss.2_Missense_Mutation_p.P529H|C11orf82_uc009yvd.2_Intron	NM_145018	NP_659455	Q8IXT1	NOXIN_HUMAN	Homo sapiens chromosome 11 open reading frame 82 (C11orf82), mRNA.	830					apoptosis|cell cycle arrest	cytoplasm|nucleus				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						ATAAAAACACCTAGCCAGAAA	0.373000														31			8		0.000274275	0.000294507	1	1	0
PRRC2C	23215	broad.mit.edu	37	1	171553144	171553144	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:171553144C>A	uc010pmg.2	+	28	7719	c.7453C>A	c.(7453-7455)Ctt>Att	p.L2485I	PRRC2C_uc010pmh.2_Missense_Mutation_p.L1397I|PRRC2C_uc010pmi.2_Missense_Mutation_p.L322I|PRRC2C_uc010pmj.2_Missense_Mutation_p.L12I	NM_015172	NP_055987	Q9Y520	PRC2C_HUMAN	Homo sapiens proline-rich coiled-coil 2C (PRRC2C), mRNA.	2485	Gln-rich.						protein C-terminus binding										ATCTGTGGTCCTTTCTGGTAC	0.408000														102			9		0.000442599	0.000473562	1	1	0
FNDC3B	64778	broad.mit.edu	37	3	171969176	171969176	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:171969176C>T	uc003fhy.3	+	5	807	c.635C>T	c.(634-636)tCt>tTt	p.S212F	FNDC3B_uc003fhz.4_Missense_Mutation_p.S212F|FNDC3B_uc003fia.3_Missense_Mutation_p.S143F	NM_022763	NP_073600	Q53EP0	FND3B_HUMAN	Homo sapiens fibronectin type III domain containing 3B (FNDC3B), transcript variant 1, mRNA.	212				S -> A (in Ref. 1; BAC53727).		endoplasmic reticulum|integral to membrane		p.S212delS(2)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		CCTCCTTCTTCTATCTACAAA	0.537000														23			10		0	0	1	0	0
MYLIP	29116	broad.mit.edu	37	6	16145221	16145221	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:16145221T>C	uc003nbq.3	+	5	1158	c.921T>C	c.(919-921)ctT>ctC	p.L307L	MYLIP_uc003nbr.3_Silent_p.L126L	NM_013262	NP_037394	Q8WY64	MYLIP_HUMAN	Homo sapiens myosin regulatory light chain interacting protein (MYLIP), mRNA.	307					cellular component movement|nervous system development	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(50;0.0799)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.241)			ACATTAACCTTGGCAAGAAAT	0.463000														63			46		0	0	1	0	0
PDS5A	23244	broad.mit.edu	37	4	39881439	39881439	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:39881439A>C	uc003guv.4	-	17	2441	c.1901T>G	c.(1900-1902)tTg>tGg	p.L634W		NM_001100399	NP_001093869	Q29RF7	PDS5A_HUMAN	Homo sapiens PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae) (PDS5A), transcript variant 1, mRNA.	634					cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						CTTATTCATCAATTTCACTAG	0.358000														39			27		0	0	1	0	0
RFPL3	10738	broad.mit.edu	37	22	32754246	32754246	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:32754246G>A	uc003amj.3	+	0	393	c.188G>A	c.(187-189)tGc>tAc	p.C63Y	RFPL3_uc010gwn.3_Missense_Mutation_p.C34Y	NM_001098535	NP_006595	O75679	RFPL3_HUMAN	Homo sapiens ret finger protein-like 3 (RFPL3), transcript variant 1, mRNA.	63							zinc ion binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	15						TGCCTCAAGTGCATCAATTCG	0.532000														51			28		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179438273	179438273	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179438273G>A	uc021vsy.1	-	274	65107	c.64882C>T	c.(64882-64884)Cgt>Tgt	p.R21628C	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.R15323C|TTN_uc021vta.1_Missense_Mutation_p.R15256C|TTN_uc021vtb.1_Missense_Mutation_p.R15131C	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	22555	Fibronectin type-III 57.						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)			GCCATGACACGGAATATGTAT	0.458000														136			95		0	0	1	0	0
ENOSF1	55556	broad.mit.edu	37	18	691249	691249	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:691249C>A	uc010dkf.3	-	5	525	c.514G>T	c.(514-516)Gat>Tat	p.D172Y	ENOSF1_uc002kku.4_Missense_Mutation_p.D151Y|ENOSF1_uc002kkt.4_Missense_Mutation_p.D69Y|ENOSF1_uc010dke.3_Non-coding_Transcript|ENOSF1_uc002kkw.4_Intron|ENOSF1_uc010wyt.1_Non-coding_Transcript	NM_202758	NP_974487	Q7L5Y1	ENOF1_HUMAN	Homo sapiens enolase superfamily member 1 (ENOSF1), transcript variant 3, mRNA.	151					cellular amino acid catabolic process	mitochondrion	isomerase activity|metal ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	10						TACCTGAAATCTATGCAGGAT	0.458000														45			11		0.000978159	0.00103832	1	1	0
ABCC9	10060	broad.mit.edu	37	12	22001153	22001153	+	Nonsense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:22001153C>A	uc001rfh.3	-	22	2817	c.2797G>T	c.(2797-2799)Gag>Tag	p.E933*	ABCC9_uc001rfi.1_Nonsense_Mutation_p.E933*	NM_020297	NP_064693	O60706	ABCC9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	933					defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	GTTTTCCTCTCTAAAGTAGTT	0.418000														28			25		2.79863e-10	3.37315e-10	1	1	0
PHKA2	5256	broad.mit.edu	37	X	18926165	18926165	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:18926165G>A	uc004cyv.4	-	21	2800	c.2370C>T	c.(2368-2370)agC>agT	p.S790S	PHKA2_uc010nfe.1_5'Flank|PHKA2_uc010nff.1_5'Flank	NM_000292	NP_000283	P46019	KPB2_HUMAN	Homo sapiens phosphorylase kinase, alpha 2 (liver) (PHKA2), mRNA.	790					glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					TTGTGTCCCAGCTGGGACCCC	0.517000														179			26		0	0	1	0	0
HTR2C	3358	broad.mit.edu	37	X	113961365	113961365	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:113961365C>T	uc004epu.1	+	2	748	c.20C>T	c.(19-21)gCg>gTg	p.A7V	HTR2C_uc010nqc.1_Missense_Mutation_p.A7V|HTR2C_uc004epv.1_Missense_Mutation_p.A7V	NM_000868	NP_000859	P28335	5HT2C_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 2C (HTR2C), mRNA.	7					ERK1 and ERK2 cascade|cGMP biosynthetic process|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)	CTGAGGAATGCGGTGCATTCA	0.343000														10			11		0	0	1	0	0
EPHA4	2043	broad.mit.edu	37	2	222321357	222321357	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:222321357G>T	uc002vmq.3	-	6	1621	c.1579C>A	c.(1579-1581)Ccc>Acc	p.P527T	EPHA4_uc002vmr.2_Missense_Mutation_p.P527T|EPHA4_uc010zlm.1_Missense_Mutation_p.P468T	NM_004438	NP_004429	P54764	EPHA4_HUMAN	Homo sapiens EPH receptor A4 (EPHA4), mRNA.	527	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		ACCTCCAAGGGCTCACTGAAG	0.483000														35			16		2.35188e-11	2.87337e-11	1	1	0
MYH6	4624	broad.mit.edu	37	14	23871975	23871975	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:23871975G>A	uc001wjv.3	-	10	1004	c.933C>T	c.(931-933)taC>taT	p.Y311Y	MYH6_uc010akp.2_Silent_p.Y311Y	NM_002471	NP_002462	P13533	MYH6_HUMAN	Homo sapiens myosin, heavy chain 6, cardiac muscle, alpha (MYH6), mRNA.	311	Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		ACACGAAGGCGTAGTCGTAGG	0.642000														18			8		0	0	1	0	0
NPTX1	4884	broad.mit.edu	37	17	78445556	78445556	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:78445556G>A	uc002jyp.1	-	3	1211	c.1053C>T	c.(1051-1053)ggC>ggT	p.G351G		NM_002522	NP_002513	Q15818	NPTX1_HUMAN	Homo sapiens neuronal pentraxin I (NPTX1), mRNA.	351	Pentaxin.				central nervous system development|synaptic transmission|transport	transport vesicle	metal ion binding			kidney(1)|large_intestine(2)|liver(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)	11	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0487)			GCACCAGCACGCCCTGGGGCT	0.657000														14			5		0	0	1	0	0
METRNL	284207	broad.mit.edu	37	17	81043069	81043069	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:81043069G>T	uc002kgh.3	+	1	551	c.426G>T	c.(424-426)caG>caT	p.Q142H	METRNL_uc002kgi.3_Missense_Mutation_p.Q60H	NM_001004431	NP_001004431	Q641Q3	METRL_HUMAN	Homo sapiens meteorin, glial cell differentiation regulator-like (METRNL), mRNA.	142						extracellular region				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	8	Breast(20;0.000443)|all_neural(118;0.0779)		BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868)			GCCGGGTGCAGTGTTTTGGCC	0.622000														52			9		1.5842e-08	1.86177e-08	1	1	0
PCDH8	5100	broad.mit.edu	37	13	53418936	53418936	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:53418936G>A	uc001vhi.3	-	2	3176	c.2972C>T	c.(2971-2973)aCg>aTg	p.T991M	PCDH8_uc001vhj.3_Missense_Mutation_p.T894M	NM_002590	NP_002581	O95206	PCDH8_HUMAN	Homo sapiens protocadherin 8 (PCDH8), transcript variant 1, mRNA.	991					cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		AGGCAGTGACGTGCTCTTACA	0.607000														34			16		0	0	1	0	0
FLJ31813	326332	broad.mit.edu	37	10	51807990	51807990	+	RNA	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:51807990G>A	uc001jiz.1	-	5		c.1863C>T								Homo sapiens FAM21B pseudogene (FLJ31813), non-coding RNA.																		CAACAGGGCAGATGCTTTCTT	0.448000														41			28		0	0	1	0	0
ITGA1	3672	broad.mit.edu	37	5	52227879	52227879	+	Missense_Mutation	SNP	A	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:52227879A>T	uc003jou.3	+	21	3188	c.2774A>T	c.(2773-2775)gAc>gTc	p.D925V	ITGA1_uc003jov.3_Non-coding_Transcript|ITGA1_uc003jow.3_Missense_Mutation_p.D456V	NM_181501	NP_852478	P56199	ITA1_HUMAN	Homo sapiens integrin, alpha 1 (ITGA1), mRNA.	925					axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity	p.D925G(2)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				TTTTCTAGTGACAGCGAAGAA	0.353000														35			11		0	0	1	0	0
NUF2	83540	broad.mit.edu	37	1	163315595	163315595	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:163315595G>T	uc001gcq.1	+	10	1235	c.935G>T	c.(934-936)aGt>aTt	p.S312I	NUF2_uc001gcr.1_Missense_Mutation_p.S312I	NM_145697	NP_663735	Q9BZD4	NUF2_HUMAN	Homo sapiens NUF2, NDC80 kinetochore complex component, homolog (S. cerevisiae) (NUF2), transcript variant 1, mRNA.	312	Interaction with the N-terminus of NDC80.				cell division|chromosome segregation|mitotic prometaphase	Ndc80 complex|condensed chromosome kinetochore|cytosol|nucleus	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	all_hematologic(923;0.101)					AAATTAGCCAGTATCTTAAAG	0.328000														66			6		2.0095e-06	2.27092e-06	1	1	0
PRSS1	5644	broad.mit.edu	37	7	142460314	142460314	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:142460314G>A	uc003wak.2	+	3	504	c.487G>A	c.(487-489)Gct>Act	p.A163T	TRBV5-1_uc011krr.1_Intron|TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|PRSS1_uc003wam.2_Missense_Mutation_p.A103T	NM_002769	NP_002760	P07477	TRY1_HUMAN	Homo sapiens protease, serine, 1 (trypsin 1) (PRSS1), mRNA.	163	Peptidase S1.				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			GTGCCTGGATGCTCCTGTGCT	0.522000														363			57		0	0	1	0	0
C21orf7	56911	broad.mit.edu	37	21	30532336	30532336	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:30532336C>T	uc002ynf.3	+	7	784	c.507C>T	c.(505-507)taC>taT	p.Y169Y	C21orf7_uc011acr.2_Non-coding_Transcript|C21orf7_uc002ynd.3_Non-coding_Transcript|C21orf7_uc010gln.3_Non-coding_Transcript|C21orf7_uc002yne.3_Silent_p.Y169Y|C21orf7_uc010glo.3_Silent_p.Y14Y|C21orf7_uc002yng.3_Silent_p.Y69Y|C21orf7_uc010glp.3_Non-coding_Transcript	NM_020152	NP_064537	P57077	TAK1L_HUMAN	Homo sapiens chromosome 21 open reading frame 7 (C21orf7), mRNA.	169						cytosol|nucleus	protein binding			ovary(2)|prostate(1)	3				Colorectal(56;0.248)		CAGAAGAATACCATGAGGTCA	0.493000														46			28		0	0	1	0	0
TAF1	6872	broad.mit.edu	37	X	70586309	70586309	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:70586309G>A	uc004dzu.4	+	0	196	c.145G>A	c.(145-147)Gcc>Acc	p.A49T	BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.4_Missense_Mutation_p.A49T	NM_138923	NP_620278	P21675	TAF1_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa (TAF1), transcript variant 2, mRNA.	49	Protein kinase 1.				G1 phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|TBP-class protein binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|transcription coactivator activity			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				CATCAATGGAGCCGGGCAGCT	0.627000														10			9		0	0	1	0	0
RPL31P11	641311	broad.mit.edu	37	1	161654774	161654774	+	RNA	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:161654774C>A	uc001gbc.3	-	0		c.269G>T								Homo sapiens ribosomal protein L31 pseudogene 11 (RPL31P11), non-coding RNA.																		CATTCTTATTCCTTTGGCCCA	0.473000														21			3		2.56e-06	2.88678e-06	1	1	0
ZNF274	10782	broad.mit.edu	37	19	58697164	58697164	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58697164G>T	uc002qrq.1	+	2	578	c.119G>T	c.(118-120)aGg>aTg	p.R40M	ZNF274_uc010yhu.1_Non-coding_Transcript|ZNF274_uc010yhv.1_Intron|ZNF274_uc002qrr.1_Missense_Mutation_p.R40M|ZNF274_uc002qrs.1_Intron|ZNF274_uc010eum.1_5'UTR	NM_133502	NP_598009	Q96GC6	ZN274_HUMAN	Homo sapiens zinc finger protein 274 (ZNF274), transcript variant ZNF274c, mRNA.	40	KRAB 1.				viral reproduction	centrosome|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)|skin(1)	21		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215)		TCCCTGTACAGGGAAGTGATG	0.498000														69			5		0.0215528	0.0220531	1	1	0
NEK8	284086	broad.mit.edu	37	17	27061108	27061108	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:27061108G>A	uc002hcp.3	+	1	155	c.155G>A	c.(154-156)tGc>tAc	p.C52Y		NM_178170	NP_835464	Q86SG6	NEK8_HUMAN	Homo sapiens NIMA (never in mitosis gene a)- related kinase 8 (NEK8), mRNA.	52	Protein kinase.					cytoplasm|primary cilium	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Lung NSC(42;0.0158)					CAGAATGAGTGCCAGGTCCTC	0.527000														36			14		0	0	1	0	0
RBM15	64783	broad.mit.edu	37	1	110884569	110884569	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:110884569C>T	uc001dzl.1	+	0	2625	c.2542C>T	c.(2542-2544)Cgc>Tgc	p.R848C	RBM15_uc001dzm.1_Missense_Mutation_p.R848C|LOC440600_uc001dzj.3_5'Flank|RBM15_uc021orn.1_Missense_Mutation_p.R848C	NM_022768	NP_073605	Q96T37	RBM15_HUMAN	Homo sapiens RNA binding motif protein 15 (RBM15), transcript variant 1, mRNA.	848	SPOC.				interspecies interaction between organisms	nucleus	RNA binding|nucleotide binding|protein binding			ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		AGTAACTCGACGCATCAAAGT	0.532000			T	MKL1	acute megakaryocytic leukemia									98			11		0	0	1	0	0
OR2T10	127069	broad.mit.edu	37	1	248756344	248756344	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:248756344G>T	uc010pzn.2	-	0	726	c.726C>A	c.(724-726)tcC>tcA	p.S242S		NM_001004693	NP_001004693	Q8NGZ9	O2T10_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 10 (OR2T10), mRNA.	242					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1)	26	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)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TAATGTGGGAGGAGCAGGTGG	0.463000														46			21		3.62473e-10	4.36059e-10	1	1	0
ARHGEF10	9639	broad.mit.edu	37	8	1828318	1828318	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:1828318G>T	uc003wpr.3	+	8	1126	c.948G>T	c.(946-948)aaG>aaT	p.K316N	ARHGEF10_uc003wpq.1_Missense_Mutation_p.K341N|ARHGEF10_uc003wps.3_Intron|ARHGEF10_uc003wpt.3_Intron|ARHGEF10_uc003wpv.3_Intron|ARHGEF10_uc010lre.3_5'Flank	NM_014629	NP_055444	O15013	ARHGA_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 10 (ARHGEF10), mRNA.	341					centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	Rho guanyl-nucleotide exchange factor activity|kinesin binding			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		TCAGGCAGAAGCATGAACTGA	0.557000														22			12		5.16669e-11	6.28684e-11	1	1	0
ARHGAP15	55843	broad.mit.edu	37	2	144193179	144193179	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:144193179G>A	uc002tvm.4	+	6	635	c.484G>A	c.(484-486)Gta>Ata	p.V162I	ARHGAP15_uc010zbl.1_Missense_Mutation_p.V162I|ARHGAP15_uc002tvn.3_5'UTR	NM_018460	NP_060930	Q53QZ3	RHG15_HUMAN	Homo sapiens Rho GTPase activating protein 15 (ARHGAP15), mRNA.	162	PH.				regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	Rac GTPase activator activity|protein binding	p.V162L(2)		endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34				BRCA - Breast invasive adenocarcinoma(221;0.151)		GATCACAACAGTATCAGGAAA	0.299000														13			11		0	0	1	0	0
DIP2C	22982	broad.mit.edu	37	10	486879	486879	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:486879G>A	uc001ifp.3	-	3	416	c.326C>T	c.(325-327)gCa>gTa	p.A109V	DIP2C_uc009xhk.1_Nonsense_Mutation_p.Q111*	NM_014974	NP_055789	Q9Y2E4	DIP2C_HUMAN	Homo sapiens DIP2 disco-interacting protein 2 homolog C (Drosophila) (DIP2C), mRNA.	109						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		CATAGGCACTGCCATCTTCCG	0.612000														28			11		0	0	1	0	0
MAGI1	9223	broad.mit.edu	37	3	65369212	65369212	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:65369212C>T	uc003dmn.3	-	14	3029	c.2503G>A	c.(2503-2505)Gaa>Aaa	p.E835K	MAGI1_uc003dmm.3_Missense_Mutation_p.E863K|MAGI1_uc003dmo.3_Missense_Mutation_p.E863K|MAGI1_uc003dmp.3_Missense_Mutation_p.E835K|MAGI1_uc003dmq.1_5'Flank|MAGI1_uc010hnx.1_Missense_Mutation_p.E146K	NM_001033057	NP_001028229	Q96QZ7	MAGI1_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 1 (MAGI1), transcript variant 3, mRNA.	863	PDZ 4.				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		CTCACAGGTTCCCCTGGTTCA	0.448000														27			33		0	0	1	0	0
C11orf42	160298	broad.mit.edu	37	11	6231582	6231582	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6231582C>T	uc001mcj.3	+	1	623	c.575C>T	c.(574-576)cCt>cTt	p.P192L		NM_173525	NP_775796	Q8N5U0	CK042_HUMAN	Homo sapiens chromosome 11 open reading frame 42 (C11orf42), mRNA.	192										endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|skin(1)|soft_tissue(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.95e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CGGTCATTACCTGTTGCCTTC	0.567000														87			7		0	0	1	0	0
MTPAP	55149	broad.mit.edu	37	10	30611540	30611540	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:30611540G>T	uc001iva.4	-	5	1062	c.999C>A	c.(997-999)gcC>gcA	p.A333A	MTPAP_uc001ivb.4_Silent_p.A463A	NM_018109	NP_060579	Q9NVV4	PAPD1_HUMAN	Homo sapiens mitochondrial poly(A) polymerase (MTPAP), nuclear gene encoding mitochondrial protein, mRNA.	333					cell death|histone mRNA catabolic process|mRNA polyadenylation|transcription, DNA-dependent	mitochondrion	ATP binding|RNA binding|UTP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|protein homodimerization activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						AACTTGTCAAGGCAATCCTTC	0.373000														23			7		0.00198382	0.00208369	1	1	0
SERPINB9	5272	broad.mit.edu	37	6	2890440	2890440	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:2890440C>A	uc003mug.3	-	6	1209	c.1088G>T	c.(1087-1089)aGa>aTa	p.R363I	AY927512_uc003mue.3_Intron|SERPINB9_uc003muf.3_Missense_Mutation_p.R166I	NM_004155	NP_004146	P50453	SPB9_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 9 (SERPINB9), mRNA.	363					anti-apoptosis|cellular response to estrogen stimulus|immune response|mast cell mediated immunity|regulation of proteolysis	cytosol|extracellular space|nucleus	caspase inhibitor activity|protease binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(4)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	15	Ovarian(93;0.0412)	all_hematologic(90;0.108)				GCTGTTGGCTCTGTTGTGCCT	0.552000														40			5		0.014758	0.0151755	1	1	0
RASAL2	9462	broad.mit.edu	37	1	178408655	178408655	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:178408655C>A	uc001glq.3	+	5	1537	c.773C>A	c.(772-774)cCt>cAt	p.P258H	RASAL2_uc001glr.3_Missense_Mutation_p.P110H	NM_170692	NP_733793	Q9UJF2	NGAP_HUMAN	Homo sapiens RAS protein activator like 2 (RASAL2), transcript variant 2, mRNA.	110	C2.				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						AGAGGGGAACCTGTATCAGTG	0.433000														53			27		3.70037e-05	4.06292e-05	1	1	0
GOT1	2805	broad.mit.edu	37	10	101163503	101163503	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:101163503G>T	uc001kpr.3	-	5	979	c.771C>A	c.(769-771)ttC>ttA	p.F257L		NM_002079	NP_002070	P17174	AATC_HUMAN	Homo sapiens glutamic-oxaloacetic transaminase 1, soluble (aspartate aminotransferase 1) (GOT1), mRNA.	257					aspartate catabolic process|cellular response to insulin stimulus|gluconeogenesis|response to glucocorticoid stimulus	cytosol	L-aspartate:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)	16		Ovarian(717;0.028)|Colorectal(252;0.234)		Epithelial(162;4.76e-10)|all cancers(201;3.84e-08)	L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	AGTTCTTGGAGAAGGACTGGG	0.552000														45			28		3.73988e-18	4.78508e-18	1	1	0
BMP3	651	broad.mit.edu	37	4	81967180	81967180	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:81967180T>C	uc003hmg.4	+	1	925	c.605T>C	c.(604-606)aTc>aCc	p.I202T		NM_001201	NP_001192	P12645	BMP3_HUMAN	Homo sapiens bone morphogenetic protein 3 (BMP3), mRNA.	202					cartilage development|cell differentiation|cell-cell signaling|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						TCTAAAGATATCACTCAACTC	0.438000														131			18		0	0	1	0	0
AZI1	22994	broad.mit.edu	37	17	79165000	79165000	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:79165000C>T	uc002jzp.1	-	21	2967	c.2767G>A	c.(2767-2769)Gag>Aag	p.E923K	AZI1_uc002jzm.1_Missense_Mutation_p.E355K|AZI1_uc002jzn.1_Missense_Mutation_p.E920K|AZI1_uc002jzo.1_Missense_Mutation_p.E884K|AZI1_uc010wum.1_Missense_Mutation_p.E887K|AZI1_uc002jzq.3_Missense_Mutation_p.E71K	NM_014984	NP_055799	Q9UPN4	AZI1_HUMAN	Homo sapiens 5-azacytidine induced 1 (AZI1), transcript variant 1, mRNA.	923					G2/M transition of mitotic cell cycle|cell differentiation|multicellular organismal development|spermatogenesis	centrosome|cytosol|intracellular membrane-bounded organelle		p.E920K(1)|p.E884K(1)		breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			TACCGGCTCTCGGCAGCCTTC	0.652000														30			24		0	0	1	0	0
LPCAT1	79888	broad.mit.edu	37	5	1494887	1494887	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:1494887C>T	uc003jcm.3	-	2	538	c.421G>A	c.(421-423)Gcc>Acc	p.A141T		NM_024830	NP_079106	Q8NF37	PCAT1_HUMAN	Homo sapiens lysophosphatidylcholine acyltransferase 1 (LPCAT1), mRNA.	141					phospholipid biosynthetic process	Golgi membrane|endoplasmic reticulum membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534)	GBM - Glioblastoma multiforme(108;0.156)		ACAGGGATGGCGTCGAAGTAG	0.652000														31			5		0	0	1	0	0
FER	2241	broad.mit.edu	37	5	108134082	108134082	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:108134082G>A	uc003kop.1	+	2	583	c.199G>A	c.(199-201)Gta>Ata	p.V67I	FER_uc011cve.1_Missense_Mutation_p.V7I|FER_uc011cvf.1_Non-coding_Transcript|FER_uc003koq.2_Missense_Mutation_p.V67I|FER_uc011cvg.1_5'UTR	NM_005246	NP_005237	P16591	FER_HUMAN	Homo sapiens fer (fps/fes related) tyrosine kinase (FER), mRNA.	67	Important for interaction with membranes containing phosphoinositides.				intracellular signal transduction|peptidyl-tyrosine phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		TGTCAGCAACGTATCCAAGGT	0.294000														29			16		0	0	1	0	0
WDR12	55759	broad.mit.edu	37	2	203760929	203760929	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:203760929G>A	uc002uzl.3	-	5	1218	c.468C>T	c.(466-468)tgC>tgT	p.C156C		NM_018256	NP_060726	Q9GZL7	WDR12_HUMAN	Homo sapiens WD repeat domain 12 (WDR12), mRNA.	156	Sufficient for nucleolar localization.				cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	PeBoW complex|nucleoplasm|preribosome, large subunit precursor	protein binding			endometrium(3)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)	13						TCAATAATAAGCAGGACAAAC	0.363000														28			10		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179477749	179477749	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179477749A>G	uc021vsy.1	-	213	42220	c.41995T>C	c.(41995-41997)Tca>Cca	p.S13999P	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.S7694P|TTN_uc021vta.1_Missense_Mutation_p.S7627P|TTN_uc021vtb.1_Missense_Mutation_p.S7502P	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	14926	Ig-like 95.						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)			AACCTTACTGATGTTTTGCCT	0.408000														29			24		0	0	1	0	0
KLHDC8A	55220	broad.mit.edu	37	1	205306572	205306572	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:205306572C>A	uc001hcf.1	-	5	1576	c.1008G>T	c.(1006-1008)caG>caT	p.Q336H	KLHDC8A_uc010prg.1_Missense_Mutation_p.Q223H|KLHDC8A_uc001hcg.1_Missense_Mutation_p.Q336H	NM_018203	NP_060673	Q8IYD2	KLD8A_HUMAN	Homo sapiens kelch domain containing 8A (KLHDC8A), mRNA.	336										breast(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(84;0.23)		BRCA - Breast invasive adenocarcinoma(75;0.117)			CACTCAGACCCTGGTTGACAC	0.572000														144			8		0.000157383	0.000170012	1	1	0
SLC35D3	340146	broad.mit.edu	37	6	137245552	137245552	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:137245552G>A	uc003qhe.3	+	1	1134	c.969G>A	c.(967-969)gcG>gcA	p.A323A		NM_001008783	NP_001008783	Q5M8T2	S35D3_HUMAN	Homo sapiens solute carrier family 35, member D3 (SLC35D3), mRNA.	323					carbohydrate transport	integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	13	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000136)|OV - Ovarian serous cystadenocarcinoma(155;0.00365)		GAGAGGAGGCGCAGCTAAGTG	0.622000														13			10		0	0	1	0	0
HTT	3064	broad.mit.edu	37	4	3188447	3188447	+	Splice_Site	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:3188447G>A	uc021xkv.1	+	38	5134	c.4989_splice	c.e38+1	p.M1663_splice		NM_002111	NP_002102	P42858	HD_HUMAN	Homo sapiens huntingtin (HTT), mRNA.	1663					Golgi organization|establishment of mitotic spindle orientation|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	Golgi apparatus|autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		AAACACAATGGTGAGTCTCTC	0.498000														56			36		0	0	1	0	0
PCDHB16	57717	broad.mit.edu	37	5	140564037	140564037	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140564037G>A	uc003liv.3	+	0	3058	c.1903G>A	c.(1903-1905)Gca>Aca	p.A635T	PCDHB9_uc003liw.1_5'Flank	NM_020957	NP_066008	Q9NRJ7	PCDBG_HUMAN	Homo sapiens protocadherin beta 16 (PCDHB16), mRNA.	635	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGAGCGCGACGCAGCCAAGCA	0.692000														56			9		0	0	1	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3682141	3682141	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:3682141C>A	uc002wja.3	-	5	1376	c.1376G>T	c.(1375-1377)aGt>aTt	p.S459I	SIGLEC1_uc002wiz.4_Missense_Mutation_p.S459I	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 1, sialoadhesin (SIGLEC1), mRNA.	459	Ig-like C2-type 4.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						GCTGTGATCACTGTCCCCGGA	0.602000														32			25		4.59853e-10	5.52125e-10	1	1	0
SPDYE6	729597	broad.mit.edu	37	7	101988959	101988959	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:101988959C>T	uc011kkp.2	-	5	1335	c.914G>A	c.(913-915)cGc>cAc	p.R305H	DQ601342_uc022aje.1_5'Flank	NM_001146210	NP_001139682	P0CI01	SPDE6_HUMAN	Homo sapiens speedy homolog E6 (Xenopus laevis) (SPDYE6), mRNA.	305	Arg-rich.																CAAGGGTATGCGAGAGCGGTT	0.572000														474			58		0	0	1	0	0
ZNF266	10781	broad.mit.edu	37	19	9523993	9523993	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9523993T>C	uc010dwq.3	-	8	2816	c.1608A>G	c.(1606-1608)cgA>cgG	p.R536R	ZNF266_uc002mll.3_Silent_p.R536R|ZNF266_uc002mlm.3_Silent_p.R536R|ZNF266_uc002mln.3_Silent_p.R536R|ZNF266_uc002mlo.3_Silent_p.R536R	NM_198058	NP_932175	Q14584	ZN266_HUMAN	Homo sapiens zinc finger protein 266 (ZNF266), mRNA.	536					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R536Q(1)		NS(1)|breast(2)|endometrium(2)|large_intestine(11)|lung(8)|ovary(1)|skin(2)|stomach(1)	28						TTTCATGATTTCGAAAGGAAC	0.443000														49			29		0	0	1	0	0
SBNO1	55206	broad.mit.edu	37	12	123812039	123812039	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:123812039G>T	uc010tap.2	-	11	1626	c.1626C>A	c.(1624-1626)acC>acA	p.T542T	SBNO1_uc010tao.2_Silent_p.T541T|SBNO1_uc010taq.2_Intron|SBNO1_uc001ueu.2_Silent_p.T541T|SBNO1_uc001uet.2_Silent_p.T542T|SBNO1_uc001uev.2_Silent_p.T540T|SBNO1_uc009zxy.1_Silent_p.T507T	NM_001167856	NP_001161328	A3KN83	SBNO1_HUMAN	Homo sapiens strawberry notch homolog 1 (Drosophila) (SBNO1), transcript variant 1, mRNA.	542							ATP binding|DNA binding|hydrolase activity			NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		CAATTTTGAAGGTCACTCCAG	0.363000														38			16		0.000422831	0.000453626	1	1	0
ABCC11	85320	broad.mit.edu	37	16	48201211	48201211	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:48201211C>T	uc002eff.1	-	28	4473	c.4123G>A	c.(4123-4125)Gcc>Acc	p.A1375T	ABCC11_uc002efg.1_Missense_Mutation_p.A1375T|ABCC11_uc002efh.1_Missense_Mutation_p.A1337T|ABCC11_uc010cbg.1_Non-coding_Transcript	NM_033151	NP_149163	Q96J66	ABCCB_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 11 (ABCC11), transcript variant 2, mRNA.	1375	ABC transporter 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				GTGGCTGTGGCCATGAGGGCT	0.572000														64			39		0	0	1	0	0
PLA2G3	50487	broad.mit.edu	37	22	31531876	31531876	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:31531876G>A	uc003aka.3	-	6	1492	c.1363C>T	c.(1363-1365)Cgg>Tgg	p.R455W		NM_015715	NP_056530	Q9NZ20	PA2G3_HUMAN	Homo sapiens phospholipase A2, group III (PLA2G3), mRNA.	455					cilium morphogenesis|lipid catabolic process|phospholipid metabolic process	centriole|extracellular space|plasma membrane	calcium ion binding|calcium-dependent phospholipase A2 activity			large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	18						TGAAGCCTCCGCAAGTGCCGG	0.582000														47			21		0	0	1	0	0
USP34	9736	broad.mit.edu	37	2	61441712	61441712	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:61441712A>G	uc002sbe.3	-	67	8187	c.8165T>C	c.(8164-8166)gTa>gCa	p.V2722A		NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	Homo sapiens ubiquitin specific peptidase 34 (USP34), mRNA.	2722					Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			ATGTAGGACTACTGTTGTGTC	0.478000														48			38		0	0	1	0	0
FAM188A	80013	broad.mit.edu	37	10	15876560	15876560	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:15876560G>T	uc001iod.1	-	6	853	c.632C>A	c.(631-633)cCt>cAt	p.P211H	FAM188A_uc001ioe.1_Missense_Mutation_p.P38H	NM_024948	NP_079224	Q9H8M7	F188A_HUMAN	Homo sapiens family with sequence similarity 188, member A (FAM188A), mRNA.	211					apoptosis	nucleus	calcium ion binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	22						TCCATATACAGGATCTATCAA	0.318000														64			4		0.150653	0.152248	1	1	0
SPHKAP	80309	broad.mit.edu	37	2	228884074	228884074	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:228884074G>A	uc002vpq.2	-	6	1543	c.1496C>T	c.(1495-1497)gCg>gTg	p.A499V	SPHKAP_uc002vpp.2_Missense_Mutation_p.A499V|SPHKAP_uc010zlx.1_Missense_Mutation_p.A499V	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	499						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		ACAAGCTAACGCCACTTCTAG	0.527000														24			15		0	0	1	0	0
GAL	51083	broad.mit.edu	37	11	68453074	68453074	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:68453074C>T	uc001oob.3	+	2	312	c.94C>T	c.(94-96)Cga>Tga	p.R32*		NM_015973	NP_057057	P22466	GALA_HUMAN	Homo sapiens galanin prepropeptide (GAL), mRNA.	32					growth hormone secretion|insulin secretion|neuropeptide signaling pathway|smooth muscle contraction	extracellular region	neuropeptide hormone activity			lung(4)	4	Esophageal squamous(3;7.33e-10)	Melanoma(852;0.0749)	LUAD - Lung adenocarcinoma(13;0.0514)	Kidney(183;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.000152)|LUSC - Lung squamous cell carcinoma(976;0.00154)		CAAGGAAAAACGAGGCTGGAC	0.612000														13			8		0	0	1	0	0
CDKL5	6792	broad.mit.edu	37	X	18643246	18643246	+	Splice_Site	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:18643246A>G	uc004cym.3	+	17	2630	c.2377_splice	c.e17-2	p.V793_splice	CDKL5_uc004cyn.3_Splice_Site_p.V793_splice|CDKL5_uc022btn.1_Splice_Site_p.V784_splice	NM_003159	NP_003150	O76039	CDKL5_HUMAN	Homo sapiens cyclin-dependent kinase-like 5 (CDKL5), transcript variant I, mRNA.	793			V -> A (in EIEE2; uncertain pathogenicity).		neuron migration|positive regulation of Rac GTPase activity|positive regulation of axon extension|positive regulation of dendrite morphogenesis|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|Rac GTPase binding|cyclin-dependent protein kinase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					ATTTTGCTCTAGGTACCCAAT	0.458000														140			15		0	0	1	0	0
PCCB	5096	broad.mit.edu	37	3	136045702	136045702	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:136045702C>T	uc011bmc.2	+	11	1259	c.1208C>T	c.(1207-1209)gCa>gTa	p.A403V	PCCB_uc003eqz.1_Missense_Mutation_p.A383V|PCCB_uc003eqy.2_Missense_Mutation_p.A383V|PCCB_uc011bmd.1_Missense_Mutation_p.A300V	NM_001178014	NP_001171485	P05166	PCCB_HUMAN	Homo sapiens propionyl CoA carboxylase, beta polypeptide (PCCB), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	383	Carboxyltransferase.				fatty acid beta-oxidation	mitochondrial matrix	ATP binding|propionyl-CoA carboxylase activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1)	25					Biotin(DB00121)|L-Valine(DB00161)	TTCTGTGATGCATTCAATATT	0.428000														86			53		0	0	1	0	0
GUCY2F	2986	broad.mit.edu	37	X	108708437	108708437	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:108708437G>T	uc022cch.1	-	1	1051	c.966C>A	c.(964-966)acC>acA	p.T322T	GUCY2F_uc011msq.2_Non-coding_Transcript|GUCY2F_uc004eod.4_Silent_p.T322T	NM_001522	NP_001513	P51841	GUC2F_HUMAN	Homo sapiens guanylate cyclase 2F, retinal (GUCY2F), mRNA.	322					intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						CTTGATAGAAGGTCTTTTCTT	0.483000														162			9		2.74318e-10	3.3084e-10	1	1	0
CEP95	90799	broad.mit.edu	37	17	62504835	62504835	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:62504835C>T	uc002jem.3	+	1	203	c.145C>T	c.(145-147)Cca>Tca	p.P49S	CEP95_uc002jen.3_Non-coding_Transcript|CEP95_uc010wqb.2_5'UTR|DDX5_uc010deh.2_5'Flank|DDX5_uc002jek.2_5'Flank|DDX5_uc002jej.2_5'Flank|DDX5_uc010wqa.1_5'Flank	NM_138363	NP_612372	Q96GE4	CEP95_HUMAN	Homo sapiens centrosomal protein 95kDa (CEP95), mRNA.	49						centrosome|spindle pole	protein binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)	13						AGAAAAGGTACCAGGTAAGAA	0.294000														84			31		0	0	1	0	0
PPARGC1B	133522	broad.mit.edu	37	5	149212534	149212534	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:149212534C>A	uc003lrc.3	+	4	989	c.898C>A	c.(898-900)Ccc>Acc	p.P300T	PPARGC1B_uc003lrb.2_Missense_Mutation_p.P300T|PPARGC1B_uc003lrd.3_Missense_Mutation_p.P261T|PPARGC1B_uc021yfr.1_Missense_Mutation_p.P236T|PPARGC1B_uc003lre.1_Missense_Mutation_p.P279T|PPARGC1B_uc003lrf.3_Missense_Mutation_p.P279T	NM_133263	NP_573570	Q86YN6	PRGC2_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator 1 beta (PPARGC1B), transcript variant 1, mRNA.	300					estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|RNA binding|RNA polymerase II transcription cofactor activity|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			CTACTGCCTCCCCCAGAGGAA	0.662000														34			27		1.66031e-10	2.00663e-10	1	1	0
MAN1C1	57134	broad.mit.edu	37	1	26109097	26109097	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:26109097A>G	uc001bkm.2	+	10	2002	c.1672A>G	c.(1672-1674)Aca>Gca	p.T558A	MAN1C1_uc009vry.1_Missense_Mutation_p.T378A	NM_020379	NP_065112	Q9NR34	MA1C1_HUMAN	Homo sapiens mannosidase, alpha, class 1C, member 1 (MAN1C1), mRNA.	558					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(7)|pancreas(1)|prostate(1)|skin(2)	25		Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803)		ATACTGTCGGACAGAAGCCGG	0.542000														20			14		0	0	1	0	0
RGS3	5998	broad.mit.edu	37	9	116359132	116359132	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:116359132C>T	uc004bhq.3	+	25	3705	c.3496C>T	c.(3496-3498)Cgc>Tgc	p.R1166C	RGS3_uc004bhs.3_Missense_Mutation_p.R1056C|RGS3_uc004bht.3_Missense_Mutation_p.R885C|RGS3_uc010muy.3_Missense_Mutation_p.R559C|RGS3_uc004bhv.3_Missense_Mutation_p.R487C|RGS3_uc004bhw.3_Missense_Mutation_p.R136C|RGS3_uc011lxh.2_Missense_Mutation_p.R487C|RGS3_uc004bhx.3_Missense_Mutation_p.R487C|RGS3_uc004bhz.3_Missense_Mutation_p.R508C|RGS3_uc004bia.3_Missense_Mutation_p.R279C	NM_144488	NP_652759	P49796	RGS3_HUMAN	Homo sapiens regulator of G-protein signaling 3 (RGS3), transcript variant 6, mRNA.	1166	RGS.				inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						GGCACAGAAGCGCATCTTCGG	0.582000														47			20		0	0	1	0	0
LRP4	4038	broad.mit.edu	37	11	46895013	46895013	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:46895013G>A	uc001ndn.4	-	28	4604	c.4361C>T	c.(4360-4362)gCg>gTg	p.A1454V	LOC100507401_uc001ndl.3_Non-coding_Transcript	NM_002334	NP_002325	O75096	LRP4_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 4 (LRP4), mRNA.	1454					Wnt receptor signaling pathway|endocytosis|negative regulation of canonical Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		CAGCCTGGACGCCTCAATGGT	0.572000														27			27		0	0	1	0	0
GRIK4	2900	broad.mit.edu	37	11	120776016	120776016	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:120776016G>A	uc001pxn.2	+	12	1577	c.1290G>A	c.(1288-1290)atG>atA	p.M430I	GRIK4_uc009zav.1_Missense_Mutation_p.M430I|GRIK4_uc009zaw.1_Missense_Mutation_p.M430I|GRIK4_uc009zax.1_Missense_Mutation_p.M430I	NM_014619	NP_055434	Q16099	GRIK4_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 4 (GRIK4), mRNA.	430					glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)	CATATTTAATGCTGAAGGGGA	0.552000														119			76		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13864621	13864621	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:13864621C>T	uc003jfd.2	-	27	4523	c.4481G>A	c.(4480-4482)cGg>cAg	p.R1494Q		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	1494	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.E1493E(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TTCCCAGTGCCGCTCCATCAT	0.478000									Kartagener syndrome					29			16		0	0	1	0	0
THOP1	7064	broad.mit.edu	37	19	2794832	2794832	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:2794832G>T	uc002lwj.3	+	2	455	c.300G>T	c.(298-300)gaG>gaT	p.E100D	THOP1_uc010xgz.2_5'Flank	NM_003249	NP_003240	P52888	THOP1_HUMAN	Homo sapiens thimet oligopeptidase 1 (THOP1), mRNA.	100					proteolysis	cytoplasm	metal ion binding|metalloendopeptidase activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|lung(8)|ovary(2)|skin(1)	14				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCAGCACAGAGGCCGACAAGA	0.587000														88			41		5.04308e-16	6.37702e-16	1	1	0
USP15	9958	broad.mit.edu	37	12	62786882	62786882	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:62786882T>G	uc001src.2	+	18	2545	c.2470T>G	c.(2470-2472)Tta>Gta	p.L824V	USP15_uc001srb.2_Missense_Mutation_p.L795V	NM_001252078	NP_001239007	Q9Y4E8	UBP15_HUMAN	Homo sapiens ubiquitin specific peptidase 15 (USP15), transcript variant 1, mRNA.	824					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		GAAATTGGATTTATGGTCCCT	0.378000														77			11		0	0	1	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18661965	18661965	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:18661965C>T	uc003zne.4	+	8	1131	c.979C>T	c.(979-981)Ctg>Ttg	p.L327L	ADAMTSL1_uc003znb.3_Silent_p.L327L|ADAMTSL1_uc003znc.4_Silent_p.L327L	NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN	Homo sapiens ADAMTS-like 1 (ADAMTSL1), transcript variant 4, mRNA.	327						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)		GTGCTACGATCTGAGGAGCAA	0.438000														41			28		0	0	1	0	0
MTMR8	55613	broad.mit.edu	37	X	63445176	63445176	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:63445176G>T	uc011mou.2	-	9	1570	c.1480C>A	c.(1480-1482)Ctg>Atg	p.L494M	MTMR8_uc004dvq.2_Missense_Mutation_p.L110M|MTMR8_uc004dvr.2_Missense_Mutation_p.L119M	NM_017677	NP_060147	Q96EF0	MTMR8_HUMAN	Homo sapiens myotubularin related protein 8 (MTMR8), mRNA.	310	Myotubularin phosphatase.					nuclear envelope	protein tyrosine phosphatase activity	p.0?(2)|p.L119M(1)|p.L110M(1)|p.L494M(1)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						ACACAGTCCAGATGGCCATGA	0.532000														7			11		4.68919e-08	5.46558e-08	1	1	0
FNDC1	84624	broad.mit.edu	37	6	159687220	159687220	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:159687220G>A	uc010kjv.3	+	20	5589	c.5389G>A	c.(5389-5391)Gga>Aga	p.G1797R		NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN	Homo sapiens fibronectin type III domain containing 1 (FNDC1), mRNA.	1797						extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		AAAGTTCGTGGGAGTTGTTCT	0.458000														54			32		0	0	1	0	0
APBA2	321	broad.mit.edu	37	15	29346645	29346645	+	Nonsense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:29346645C>A	uc001zck.3	+	2	762	c.558C>A	c.(556-558)taC>taA	p.Y186*	APBA2_uc010azj.2_Nonsense_Mutation_p.Y186*|APBA2_uc010uat.2_Nonsense_Mutation_p.Y186*|APBA2_uc001zcl.3_Nonsense_Mutation_p.Y186*|APBA2_uc010uas.1_Nonsense_Mutation_p.Y186*	NM_005503	NP_005494	Q99767	APBA2_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family A, member 2 (APBA2), transcript variant 1, mRNA.	186	STXBP1-binding.			DEPSVLEAHDQEEDGHYCASKEGYQDYYPEEANGNTGASPY RLRR -> MSPPSLRPMTRKKMVTMCQQRGLPGLLPRGGQR EHRRLPLPPEA (in Ref. 1; AAC39767).	nervous system development|protein transport		protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		ATGGTCACTACTGTGCCAGCA	0.642000														26			3		0.115264	0.116841	1	1	0
GNAO1	2775	broad.mit.edu	37	16	56388803	56388803	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:56388803C>T	uc002eiu.4	+	7	1800	c.903C>T	c.(901-903)gcC>gcT	p.A301A		NM_020988	NP_066268	P09471	GNAO_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O (GNAO1), transcript variant 1, mRNA.	301					G-protein signaling, coupled to cAMP nucleotide second messenger|dopamine receptor signaling pathway|muscle contraction	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)	17		all_neural(199;0.159)				AAGACGCAGCCGCCTACATCC	0.507000														33			13		0	0	1	0	0
NEDD8-MDP1	100528064	broad.mit.edu	37	14	24683347	24683347	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:24683347G>A	uc001wnl.2	-	5	529	c.414C>T	c.(412-414)tgC>tgT	p.C138C	TM9SF1_uc010tob.1_5'UTR|TM9SF1_uc010toc.2_Non-coding_Transcript|TM9SF1_uc001wni.3_5'UTR|TM9SF1_uc001wnj.3_5'UTR|NEDD8-MDP1_uc001wnk.2_3'UTR|NEDD8-MDP1_uc021rrl.1_3'UTR|NEDD8-MDP1_uc001wnm.2_Missense_Mutation_p.H92Y|NEDD8-MDP1_uc021rrm.1_Silent_p.C155C	NM_138476	NP_612485			Homo sapiens magnesium-dependent phosphatase 1 (MDP1), transcript variant 1, mRNA.																		GGATGTGAATGCAGGTAACAC	0.433000														102			12		0	0	1	0	0
PCGF6	84108	broad.mit.edu	37	10	105086326	105086326	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:105086326G>T	uc001kwt.3	-	7	942	c.874C>A	c.(874-876)Ctc>Atc	p.L292I	PCGF6_uc001kwu.3_Missense_Mutation_p.L217I|PCGF6_uc009xxk.3_Non-coding_Transcript|PCGF6_uc009xxl.3_Non-coding_Transcript	NM_001011663	NP_001011663	Q9BYE7	PCGF6_HUMAN	Homo sapiens polycomb group ring finger 6 (PCGF6), transcript variant 1, mRNA.	292					negative regulation of transcription, DNA-dependent	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)	8		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;2.57e-09)|all cancers(201;7.21e-08)|BRCA - Breast invasive adenocarcinoma(275;0.205)		TTTCTTCTGAGGAATTTTTCT	0.348000														64			9		1.76689e-08	2.07166e-08	1	1	0
C4orf37	285555	broad.mit.edu	37	4	99055575	99055575	+	Nonsense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:99055575C>A	uc003htt.2	-	1	235	c.145G>T	c.(145-147)Gaa>Taa	p.E49*		NM_174952	NP_777612	Q8N412	CD037_HUMAN	Homo sapiens chromosome 4 open reading frame 37 (C4orf37), mRNA.	49								p.E49*(2)		cervix(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(3)|stomach(1)	25				OV - Ovarian serous cystadenocarcinoma(123;2.27e-08)		AAAGTACTTTCTCTGGCAGTC	0.358000														90			8		5.68852e-11	6.91301e-11	1	1	0
TSPAN19	144448	broad.mit.edu	37	12	85413440	85413440	+	Missense_Mutation	SNP	T	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:85413440T>A	uc009zsj.3	-	5	516	c.415A>T	c.(415-417)Acc>Tcc	p.T139S		NM_001100917	NP_001094387	P0C672	TSN19_HUMAN	Homo sapiens tetraspanin 19 (TSPAN19), mRNA.	139						integral to membrane				ovary(1)	1						GTCCACTTGGTTATATCTTCA	0.323000														50			22		0	0	1	0	0
HINFP	25988	broad.mit.edu	37	11	119002275	119002275	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:119002275C>T	uc001pvp.3	+	4	686	c.442C>T	c.(442-444)Cgg>Tgg	p.R148W	HINFP_uc021qrj.1_Missense_Mutation_p.R148W|HINFP_uc001pvq.3_Missense_Mutation_p.R148W|HINFP_uc001pvr.3_5'UTR	NM_015517	NP_945322	Q9BQA5	HINFP_HUMAN	Homo sapiens histone H4 transcription factor (HINFP), transcript variant 1, mRNA.	148					DNA damage checkpoint|DNA repair|establishment of protein localization|in utero embryonic development|myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	enzyme binding|histone binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						GTGGTTTTATCGGCATGTGGA	0.547000														62			33		0	0	1	0	0
CALR3	125972	broad.mit.edu	37	19	16593275	16593275	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:16593275G>A	uc002ned.2	-	6	967	c.904C>T	c.(904-906)Ctg>Ttg	p.L302L	MED26_uc002nee.2_Non-coding_Transcript	NM_145046	NP_659483	Q96L12	CALR3_HUMAN	Homo sapiens calreticulin 3 (CALR3), mRNA.	302	C-domain.				protein folding	endoplasmic reticulum lumen	calcium ion binding|sugar binding|unfolded protein binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|prostate(1)|skin(1)	15						CAAAGCTCCAGGCCAATGGCA	0.398000														29			24		0	0	1	0	0
MYB	4602	broad.mit.edu	37	6	135518458	135518458	+	Silent	SNP	G	A	A	rs55983257		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:135518458G>A	uc003qfh.3	+	9	1762	c.1563G>A	c.(1561-1563)tcG>tcA	p.S521S	MYB_uc003qfp.3_Non-coding_Transcript|MYB_uc003qfn.3_Intron|MYB_uc003qfk.3_Intron|MYB_uc003qfc.3_Intron|MYB_uc003qfr.3_Intron|MYB_uc003qft.3_Intron|MYB_uc003qfs.3_Intron|MYB_uc003qfw.3_Intron|MYB_uc010kgi.3_Intron|MYB_uc003qfq.3_Silent_p.S518S|MYB_uc010kgj.3_Intron|MYB_uc003qfo.3_Intron|MYB_uc003qfu.3_Intron|MYB_uc003qfy.3_Non-coding_Transcript|MYB_uc003qfl.3_Intron|MYB_uc003qfv.3_Intron|MYB_uc003qfz.3_Non-coding_Transcript|MYB_uc003qfx.3_Intron|MYB_uc003qga.3_Intron|MYB_uc003qgb.3_Intron|MYB_uc010kgk.3_Intron|MYB_uc003qfd.3_Intron|MYB_uc003qfi.3_Silent_p.S505S|MYB_uc003qfe.3_Intron|MYB_uc003qfg.3_Intron|MYB_uc003qff.3_Intron|MYB_uc003qfj.3_Intron|MYB_uc003qfm.3_Non-coding_Transcript|MYB_uc003qgc.3_Intron|MYB_uc003qfb.1_Intron|MYB_uc003qge.1_Non-coding_Transcript	NM_001130173	NP_001123645	P10242	MYB_HUMAN	Homo sapiens v-myb myeloblastosis viral oncogene homolog (avian) (MYB), transcript variant 1, mRNA.	468					blood coagulation|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of T-helper cell differentiation|positive regulation of histone H3-K4 methylation|positive regulation of histone H3-K9 methylation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear matrix	DNA binding|protein binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221)	Lung NSC(302;3.08e-05)|Ovarian(999;0.208)		OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117)		TCTCTCCCTCGCAGGTAGAAC	0.453000			T	NFIB	adenoid cystic carcinoma									29			22		0	0	1	0	0
INTU	27152	broad.mit.edu	37	4	128626796	128626796	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:128626796C>T	uc003ifk.2	+	10	1720	c.1617C>T	c.(1615-1617)gcC>gcT	p.A539A	INTU_uc011cgq.2_Non-coding_Transcript	NM_015693	NP_056508	Q9ULD6	PDZD6_HUMAN	Homo sapiens inturned planar cell polarity effector homolog (Drosophila) (INTU), mRNA.	539										breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						TTGATATTGCCGTATACTGTC	0.403000														166			19		0	0	1	0	0
AGFG2	3268	broad.mit.edu	37	7	100162563	100162563	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100162563C>A	uc003uvf.3	+	11	1531	c.1395C>A	c.(1393-1395)ccC>ccA	p.P465P		NM_006076	NP_006067	O95081	AGFG2_HUMAN	Homo sapiens ArfGAP with FG repeats 2 (AGFG2), mRNA.	465					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						AGACTGGACCCTCATCAAGCC	0.517000											OREG0018204	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		204			10		0.00621372	0.00645399	1	1	0
TLL1	7092	broad.mit.edu	37	4	166964541	166964541	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:166964541C>T	uc003irh.2	+	11	2141	c.1494C>T	c.(1492-1494)taC>taT	p.Y498Y	TLL1_uc011cjn.2_Silent_p.Y498Y|TLL1_uc011cjo.2_Silent_p.Y322Y	NM_012464	NP_036596	O43897	TLL1_HUMAN	Homo sapiens tolloid-like 1 (TLL1), transcript variant 1, mRNA.	498	CUB 2.				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			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)		CTGAGAGCTACCACGTCGGGC	0.418000														86			56		0	0	1	0	0
ZBTB39	9880	broad.mit.edu	37	12	57398141	57398141	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57398141C>A	uc001sml.2	-	1	714	c.561G>T	c.(559-561)aaG>aaT	p.K187N	ZBTB39_uc021qzg.1_Missense_Mutation_p.K187N	NM_014830	NP_055645	O15060	ZBT39_HUMAN	Homo sapiens zinc finger and BTB domain containing 39 (ZBTB39), mRNA.	187					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						TGGCAACATTCTTCTCTTCCT	0.552000														81			43		6.21074e-16	7.84719e-16	1	1	0
UTP14C	9724	broad.mit.edu	37	13	52603190	52603190	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:52603190C>A	uc001vgb.3	+	1	812	c.250C>A	c.(250-252)Ctg>Atg	p.L84M	UTP14C_uc001vga.3_3'UTR|UTP14C_uc001vgc.3_Non-coding_Transcript|UTP14C_uc021rjw.1_Missense_Mutation_p.L84M	NM_021645	NP_067677	Q5TAP6	UT14C_HUMAN	Homo sapiens UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast) (UTP14C), mRNA.	84					cell differentiation|meiosis|multicellular organismal development|rRNA processing|spermatogenesis	nucleolus|small-subunit processome				breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	32		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.3e-08)		AGGAGAAAAGCTGGGCCTTGC	0.448000														121			7		1.26484e-09	1.50989e-09	1	1	0
SLC13A2	9058	broad.mit.edu	37	17	26818459	26818459	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:26818459T>C	uc010wan.2	+	4	793	c.726T>C	c.(724-726)aaT>aaC	p.N242N	SLC13A2_uc010wal.1_Silent_p.N150N|SLC13A2_uc010wam.2_Silent_p.N149N|SLC13A2_uc002hbh.3_Silent_p.N193N|SLC13A2_uc010wao.2_Silent_p.N150N|SLC13A2_uc002hbi.3_Silent_p.N122N	NM_001145975	NP_001139447	Q13183	S13A2_HUMAN	Homo sapiens solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2 (SLC13A2), transcript variant 1, mRNA.	193						integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity	p.A241T(1)|p.A241P(1)		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)	TCCCAGATAATGGGCAGGCCC	0.642000														26			18		0	0	1	0	0
C5orf48	389320	broad.mit.edu	37	5	125967480	125967480	+	Nonsense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:125967480C>A	uc003kub.1	+	0	67	c.54C>A	c.(52-54)tgC>tgA	p.C18*		NM_207408	NP_997291	Q6ZNM6	CE048_HUMAN	Homo sapiens chromosome 5 open reading frame 48 (C5orf48), mRNA.	18										large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	7						CTAACAACTGCTCTGATGAGA	0.398000														54			26		9.57634e-11	1.16131e-10	1	1	0
GPR126	57211	broad.mit.edu	37	6	142714127	142714127	+	Missense_Mutation	SNP	G	A	A	rs144911800	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:142714127G>A	uc010khe.3	+	7	1762	c.1351G>A	c.(1351-1353)Gtt>Att	p.V451I	GPR126_uc010khc.3_Missense_Mutation_p.V451I|GPR126_uc010khd.3_Missense_Mutation_p.V423I|GPR126_uc010khf.3_Missense_Mutation_p.V423I	NM_198569	NP_940971	Q86SQ4	GP126_HUMAN	Homo sapiens G protein-coupled receptor 126 (GPR126), transcript variant b1, mRNA.	451					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		GGTTTATGTCGTTAATATCAG	0.289000														24			16		0	0	1	0	0
PTPRS	5802	broad.mit.edu	37	19	5240339	5240339	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:5240339C>T	uc002mbv.3	-	11	1809	c.1575G>A	c.(1573-1575)ccG>ccA	p.P525P	PTPRS_uc002mbu.1_Silent_p.P512P|PTPRS_uc010xin.2_Silent_p.P512P|PTPRS_uc002mbw.3_Silent_p.P512P|PTPRS_uc002mbx.3_Silent_p.P516P|PTPRS_uc002mby.3_Silent_p.P512P	NM_002850	NP_002841	Q13332	PTPRS_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, S (PTPRS), transcript variant 1, mRNA.	525	Fibronectin type-III 3.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		TGGGCTGGCCCGGCACTGTGG	0.657000														13			4		0	0	1	0	0
NUP214	8021	broad.mit.edu	37	9	134074037	134074037	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:134074037G>A	uc004cag.3	+	28	5267	c.5156G>A	c.(5155-5157)gGg>gAg	p.G1719E	NUP214_uc004cah.3_Missense_Mutation_p.G1709E|NUP214_uc004cai.3_Missense_Mutation_p.G1149E|NUP214_uc010mzg.3_Non-coding_Transcript|NUP214_uc011mcg.2_Missense_Mutation_p.G545E|NUP214_uc011mcf.1_Missense_Mutation_p.G496E|NUP214_uc010mzh.1_Missense_Mutation_p.G233E|NUP214_uc010mzi.1_Missense_Mutation_p.G233E	NM_005085	NP_005076	P35658	NU214_HUMAN	Homo sapiens nucleoporin 214kDa (NUP214), mRNA.	1719	11 X 3 AA approximate repeats.|11 X 5 AA approximate repeats.|18 X 4 AA approximate repeats.|Pro/Ser/Thr-rich.				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		ACAGCCCCAGGGGTCTTTGGA	0.587000			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""									38			14		0	0	1	0	0
FZD7	8324	broad.mit.edu	37	2	202900492	202900492	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:202900492C>T	uc002uyw.1	+	0	1183	c.1122C>T	c.(1120-1122)atC>atT	p.I374I		NM_003507	NP_003498	O75084	FZD7_HUMAN	Homo sapiens frizzled family receptor 7 (FZD7), mRNA.	374					G-protein signaling, coupled to cGMP nucleotide second messenger|Wnt receptor signaling pathway, calcium modulating pathway|axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|gonad development|mesenchymal to epithelial transition|negative regulation of cell-substrate adhesion|negative regulation of ectodermal cell fate specification|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent|regulation of catenin import into nucleus|vasculature development	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|endometrium(6)|large_intestine(6)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	31						ACGAGGCCATCGAGGCCAACT	0.632000											OREG0015146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		47			7		0	0	1	0	0
NOS1	4842	broad.mit.edu	37	12	117768386	117768386	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:117768386G>A	uc001twn.2	-	1	1200	c.489C>T	c.(487-489)taC>taT	p.Y163Y	NOS1_uc001twm.2_Silent_p.Y163Y	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	163	Interaction with NOSIP (By similarity).|PIN (nNOS-inhibiting protein) binding.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	GCCCATCATCGTAGGCATGCT	0.682000														43			30		0	0	1	0	0
MTHFD1	4522	broad.mit.edu	37	14	64916229	64916229	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:64916229C>T	uc001xhb.3	+	23	2733	c.2346C>T	c.(2344-2346)gcC>gcT	p.A782A	MTHFD1_uc010aqf.3_Silent_p.A838A|ZBTB25_uc001xhc.3_3'UTR	NM_005956	NP_005947	P11586	C1TC_HUMAN	Homo sapiens methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase (MTHFD1), mRNA.	782	Formyltetrahydrofolate synthetase.				folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process	cytosol|mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase|methylenetetrahydrofolate dehydrogenase (NADP+) activity|protein binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30				OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	NADH(DB00157)|Tetrahydrofolic acid(DB00116)	CTTTTGATGCCGTGAAGTGCA	0.547000														39			25		0	0	1	0	0
ETV1	2115	broad.mit.edu	37	7	13978856	13978856	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:13978856A>G	uc021zzz.1	-	4	338	c.251T>C	c.(250-252)cTg>cCg	p.L84P	ETV1_uc021zzt.1_Missense_Mutation_p.L44P|ETV1_uc021zzu.1_Missense_Mutation_p.L44P|ETV1_uc021zzv.1_Missense_Mutation_p.L26P|ETV1_uc021zzw.1_Missense_Mutation_p.L44P|ETV1_uc021zzx.1_Missense_Mutation_p.L44P|ETV1_uc021zzy.1_Missense_Mutation_p.L26P|ETV1_uc022aaa.1_Missense_Mutation_p.L66P|ETV1_uc022aab.1_Missense_Mutation_p.L84P|ETV1_uc003ssw.4_Missense_Mutation_p.L84P|ETV1_uc003ssx.3_Non-coding_Transcript|ETV1_uc022aac.1_Missense_Mutation_p.L66P|ETV1_uc022aad.1_Missense_Mutation_p.L66P|ETV1_uc010ktv.3_5'UTR	NM_004956	NP_004947	P50549	ETV1_HUMAN	Homo sapiens ets variant 1 (ETV1), transcript variant 1, mRNA.	84					transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						TTTCAGTGGCAGGCCATGAAA	0.373000			T	"""EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"""	"""Ewing sarcoma, prostate"""									89			5		0	0	1	0	0
GAA	2548	broad.mit.edu	37	17	78092152	78092152	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:78092152G>T	uc002jxp.3	+	17	3009	c.2642G>T	c.(2641-2643)aGg>aTg	p.R881M	GAA_uc002jxo.3_Missense_Mutation_p.R881M|GAA_uc002jxq.3_Missense_Mutation_p.R881M	NM_000152	NP_001073272	P10253	LYAG_HUMAN	Homo sapiens glucosidase, alpha; acid (GAA), transcript variant 1, mRNA.	881					cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)	TTCCTGGCCAGGAATGTGAGT	0.667000														51			6		0.00116845	0.00123466	1	1	0
RAG1	5896	broad.mit.edu	37	11	36596598	36596598	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:36596598A>G	uc021qgb.1	+	0	1744	c.1744A>G	c.(1744-1746)Aga>Gga	p.R582G	RAG1_uc001mwt.3_Non-coding_Transcript|RAG1_uc001mwu.4_Missense_Mutation_p.R582G	NM_000448	NP_000439	P15918	RAG1_HUMAN	Homo sapiens recombination activating gene 1 (RAG1), mRNA.	582					T cell differentiation in thymus|V(D)J recombination|histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding	p.M581I(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				GGAAGGCATGAGATCCCAAGA	0.493000									Familial Hemophagocytic Lymphohistiocytosis					45			4		0	0	1	0	0
DGKG	1608	broad.mit.edu	37	3	186002489	186002489	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:186002489C>T	uc003fqa.3	-	6	1091	c.554G>A	c.(553-555)cGc>cAc	p.R185H	DGKG_uc003fqb.3_Missense_Mutation_p.R185H|DGKG_uc003fqc.3_Missense_Mutation_p.R185H|DGKG_uc011brx.2_Missense_Mutation_p.R185H	NM_001346	NP_001337	P49619	DGKG_HUMAN	Homo sapiens diacylglycerol kinase, gamma 90kDa (DGKG), transcript variant 1, mRNA.	185	EF-hand 1.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	ATCATAGAGGCGAAACATGAC	0.483000														44			17		0	0	1	0	0
ZBTB46	140685	broad.mit.edu	37	20	62378406	62378406	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:62378406G>A	uc002ygv.2	-	4	1848	c.1647C>T	c.(1645-1647)ggC>ggT	p.G549G	ZBTB46_uc002ygu.3_Non-coding_Transcript	NM_025224	NP_079500	Q86UZ6	ZBT46_HUMAN	Homo sapiens zinc finger and BTB domain containing 46 (ZBTB46), mRNA.	549					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					CGTCGTCCTCGCCCAGCTCCT	0.726000														23			13		0	0	1	0	0
SLC4A1	6521	broad.mit.edu	37	17	42335492	42335492	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:42335492G>T	uc002igf.4	-	10	1293	c.1144C>A	c.(1144-1146)Ctg>Atg	p.L382M	SLC4A1_uc021tyc.1_Intron	NM_000342	NP_000333	P02730	B3AT_HUMAN	Homo sapiens solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group) (SLC4A1), mRNA.	382					bicarbonate transport|cellular ion homeostasis	Z disc|basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		TCACGCACCAGGCCCCCGAAG	0.582000														85			44		1.61004e-24	2.1024e-24	1	1	0
DDX27	55661	broad.mit.edu	37	20	47850160	47850160	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:47850160G>A	uc002xuh.3	+	10	1341	c.1280G>A	c.(1279-1281)aGc>aAc	p.S427N		NM_017895	NP_060365	Q96GQ7	DDX27_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 27 (DDX27), mRNA.	427						nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TTTGTGAACAGCAACACAGAT	0.557000														85			36		0	0	1	0	0
PLEKHG1	57480	broad.mit.edu	37	6	151125863	151125863	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:151125863G>A	uc011eem.1	+	6	1163	c.1075G>A	c.(1075-1077)Gcg>Acg	p.A359T	PLEKHG1_uc011eel.1_Missense_Mutation_p.A340T|PLEKHG1_uc003qny.1_Missense_Mutation_p.A300T|PLEKHG1_uc003qnz.2_Missense_Mutation_p.A300T	NM_001029884	NP_001025055	Q9ULL1	PKHG1_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 1 (PLEKHG1), mRNA.	300	PH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		ACACGAGCACGCGGTCCGGTT	0.512000														28			19		0	0	1	0	0
KIAA0284	283638	broad.mit.edu	37	14	105353630	105353630	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:105353630G>A	uc001yps.3	+	10	3150	c.2844G>A	c.(2842-2844)acG>acA	p.T948T	KIAA0284_uc010axb.3_Silent_p.T948T|KIAA0284_uc001ypt.3_5'Flank	NM_015005	NP_055820	Q9Y4F5	K0284_HUMAN	Homo sapiens KIAA0284 (KIAA0284), transcript variant 2, mRNA.	1018						cytoplasm|microtubule				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(5)|prostate(3)|soft_tissue(1)	14		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000472)|OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0149)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.178)		TTGGCCCGACGGACATGGGCC	0.697000														13			3		0	0	1	0	0
USF2	7392	broad.mit.edu	37	19	35761456	35761456	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:35761456C>T	uc010xss.1	+	4	645	c.536C>T	c.(535-537)aCg>aTg	p.T179M	USF2_uc002nyq.1_Missense_Mutation_p.T179M|USF2_uc002nyr.1_Missense_Mutation_p.T112M|USF2_uc002nyt.1_Intron|USF2_uc002nyv.1_5'UTR			Q15853	USF2_HUMAN	Homo sapiens upstream transcription factor 2, c-fos interacting (USF2), transcript variant 1, mRNA.	179					lipid homeostasis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter by glucose	nucleus	bHLH transcription factor binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|urinary_tract(1)	13	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)		Epithelial(14;7.4e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.47e-19)|all cancers(14;4.17e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			GGAGATACTACGGCTGTGTCC	0.607000														28			11		0	0	1	0	0
SLC27A6	28965	broad.mit.edu	37	5	128365298	128365298	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:128365298T>C	uc003kuy.3	+	9	1977	c.1581T>C	c.(1579-1581)tcT>tcC	p.S527S	SLC27A6_uc003kuz.3_Silent_p.S527S	NM_014031	NP_054750	Q9Y2P4	S27A6_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 6 (SLC27A6), transcript variant 1, mRNA.	527					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		GAATGGCTTCTATTATTTTAA	0.284000														41			19		0	0	1	0	0
F8	2157	broad.mit.edu	37	X	154091391	154091391	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:154091391G>T	uc004fmt.3	-	22	6712	c.6541C>A	c.(6541-6543)Ctt>Att	p.L2181I	F8_uc004fms.3_Missense_Mutation_p.L46I	NM_000132	NP_000123	P00451	FA8_HUMAN	Homo sapiens coagulation factor VIII, procoagulant component (F8), transcript variant 1, mRNA.	2181	F5/8 type C 1.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TCCATGCGAAGAGTGCTGCGA	0.418000														53			32		6.00712e-18	7.68252e-18	1	1	0
MAP2K5	5607	broad.mit.edu	37	15	67985893	67985893	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:67985893A>C	uc002aqu.3	+	14	1612	c.959A>C	c.(958-960)aAt>aCt	p.N320T	MAP2K5_uc002aqv.3_Missense_Mutation_p.N320T|MAP2K5_uc010ujw.2_Missense_Mutation_p.N284T|MAP2K5_uc002aqx.3_Missense_Mutation_p.N130T	NM_145160	NP_660143	Q13163	MP2K5_HUMAN	Homo sapiens mitogen-activated protein kinase kinase 5 (MAP2K5), transcript variant 1, mRNA.	320	Protein kinase.				nerve growth factor receptor signaling pathway		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|skin(1)	16						GTTGGAACAAATGCTTATATG	0.294000														54			6		0	0	1	0	0
FANCD2	2177	broad.mit.edu	37	3	10122797	10122797	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:10122797G>A	uc003buw.3	+	30	3068	c.2990G>A	c.(2989-2991)cGg>cAg	p.R997Q	FANCD2_uc003bux.1_Missense_Mutation_p.R997Q|FANCD2_uc003buy.1_Missense_Mutation_p.R997Q|FANCD2_uc010hcw.1_Non-coding_Transcript	NM_033084	NP_149075	Q9BXW9	FACD2_HUMAN	Homo sapiens Fanconi anemia, complementation group D2 (FANCD2), transcript variant 1, mRNA.	997					DNA repair|response to gamma radiation	nucleoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		AAAGGAAGCCGGAATATTGGA	0.418000			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia					54			41		0	0	1	0	0
MED13L	23389	broad.mit.edu	37	12	116413113	116413113	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:116413113C>T	uc001tvw.3	-	24	5649	c.5594G>A	c.(5593-5595)cGg>cAg	p.R1865Q		NM_015335	NP_056150	Q71F56	MD13L_HUMAN	Homo sapiens mediator complex subunit 13-like (MED13L), mRNA.	1865					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		TTTACTCCTCCGTGACCTAAC	0.403000														51			5		0	0	1	0	0
IRF8	3394	broad.mit.edu	37	16	85953808	85953808	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:85953808G>A	uc002fjh.3	+	7	1139	c.1082G>A	c.(1081-1083)cGc>cAc	p.R361H		NM_002163	NP_002154	Q02556	IRF8_HUMAN	Homo sapiens interferon regulatory factor 8 (IRF8), mRNA.	361					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24		Prostate(104;0.0771)				GCCCCCTTGCGCTCCAAACTC	0.502000														17			10		0	0	1	0	0
SBDS	51119	broad.mit.edu	37	7	66458363	66458363	+	Silent	SNP	T	C	C	rs113993994		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:66458363T>C	uc003tvm.1	-	2	484	c.300A>G	c.(298-300)agA>agG	p.R100R		NM_016038	NP_057122	Q9Y3A5	SBDS_HUMAN	Homo sapiens Shwachman-Bodian-Diamond syndrome (SBDS), mRNA.	100					bone marrow development|bone mineralization|leukocyte chemotaxis|mature ribosome assembly|mitotic spindle stabilization|positive regulation of translation|rRNA processing|ribosomal large subunit biogenesis	cytoplasm|nucleolus|nucleoplasm|spindle pole	microtubule binding|rRNA binding|ribosome binding			cervix(1)|endometrium(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	7						GTTGTGTGTGTCTTTCTTTAT	0.353000			Gene Conversion			"""AML, MDS"""			Shwachman-Diamond syndrome					86			102		0	0	1	0	0
abParts	0	broad.mit.edu	37	2	90199087	90199087	+	RNA	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:90199087G>T	uc010yts.2	+	35		c.4481G>T								Parts of antibodies, mostly variable regions.																		GTCCCATCAAGGTTCAGCGGC	0.493000														59			12		1.5739e-10	1.90488e-10	1	1	0
HEATR5B	54497	broad.mit.edu	37	2	37302635	37302635	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:37302635A>G	uc002rpp.1	-	4	686	c.590T>C	c.(589-591)gTg>gCg	p.V197A		NM_019024	NP_061897	Q9P2D3	HTR5B_HUMAN	Homo sapiens HEAT repeat containing 5B (HEATR5B), mRNA.	197							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				AACCTTGGCCACTGCACATCG	0.398000														126			13		0	0	1	0	0
GLMN	11146	broad.mit.edu	37	1	92733470	92733470	+	Splice_Site	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:92733470C>A	uc001dor.3	-	11	1213	c.1098_splice	c.e11+1	p.Q366_splice	GLMN_uc009wdg.3_Splice_Site|GLMN_uc001dos.3_Splice_Site_p.Q366_splice	NM_053274	NP_444504	Q92990	GLMN_HUMAN	Homo sapiens glomulin, FKBP associated protein (GLMN), mRNA.	366					muscle cell differentiation|negative regulation of T cell proliferation|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of phosphorylation|regulation of gene expression, epigenetic|vasculogenesis	intracellular	hepatocyte growth factor receptor binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	17		all_lung(203;0.00827)|Lung NSC(277;0.0295)		all cancers(265;0.00702)|GBM - Glioblastoma multiforme(16;0.0381)|Epithelial(280;0.0989)		TTTTATTTACCTGAGGTACAG	0.333000									Multiple Glomus Tumors (of the Skin), Familial					121			10		1.08611e-07	1.25606e-07	1	1	0
SLC2A4	6517	broad.mit.edu	37	17	7187151	7187151	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7187151C>T	uc002gfp.3	+	3	618	c.418C>T	c.(418-420)Ctt>Ttt	p.L140F	SLC2A4_uc010cmd.3_Non-coding_Transcript|SLC2A4_uc021tpa.1_Missense_Mutation_p.L130F	NM_001042	NP_001033	P14672	GTR4_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 4 (SLC2A4), mRNA.	140					carbohydrate metabolic process|glucose homeostasis|glucose import	external side of plasma membrane|integral to plasma membrane|perinuclear region of cytoplasm	D-glucose transmembrane transporter activity|protein binding			breast(1)|endometrium(3)|large_intestine(7)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17						AATGCTCATCCTTGGACGATT	0.592000														19			21		0	0	1	0	0
ZNF549	256051	broad.mit.edu	37	19	58049682	58049682	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58049682G>A	uc002qpb.2	+	3	1559	c.1310G>A	c.(1309-1311)aGa>aAa	p.R437K	ZNF549_uc002qpa.2_Missense_Mutation_p.R424K	NM_001199295	NP_001186224	Q6P9A3	ZN549_HUMAN	Homo sapiens zinc finger protein 549 (ZNF549), transcript variant 1, mRNA.	437					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GAGCACCAGAGAATTCATACT	0.433000														29			23		0	0	1	0	0
DAGLA	747	broad.mit.edu	37	11	61507019	61507019	+	Missense_Mutation	SNP	C	T	T	rs150967936		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:61507019C>T	uc001nsa.3	+	16	1855	c.1739C>T	c.(1738-1740)aCg>aTg	p.T580M		NM_006133	NP_006124	Q9Y4D2	DGLA_HUMAN	Homo sapiens diacylglycerol lipase, alpha (DAGLA), mRNA.	580					cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		CTGGCCAGCACGCGGCTCTGG	0.657000														44			21		0	0	1	0	0
SEL1L3	23231	broad.mit.edu	37	4	25792082	25792082	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:25792082C>T	uc003gru.4	-	11	2223	c.2071G>A	c.(2071-2073)Gct>Act	p.A691T	SEL1L3_uc003grv.3_Missense_Mutation_p.A98T	NM_015187	NP_056002	Q68CR1	SE1L3_HUMAN	Homo sapiens sel-1 suppressor of lin-12-like 3 (C. elegans) (SEL1L3), mRNA.	691						integral to membrane	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						TTTACCTGAGCTGCTGCATTG	0.423000														26			18		0	0	1	0	0
IQUB	154865	broad.mit.edu	37	7	123143079	123143079	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:123143079T>C	uc003vkn.3	-	4	1363	c.786A>G	c.(784-786)ggA>ggG	p.G262G	IQUB_uc003vko.3_Silent_p.G262G|IQUB_uc010lkt.3_Non-coding_Transcript|IQUB_uc003vkp.1_Silent_p.G262G|IQUB_uc003vkq.2_3'UTR	NM_178827	NP_849149	Q8NA54	IQUB_HUMAN	Homo sapiens IQ motif and ubiquitin domain containing (IQUB), mRNA.	262										breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						GATACTCTACTCCTGTTACTT	0.383000														167			8		0	0	1	0	0
MYH7	4625	broad.mit.edu	37	14	23897873	23897873	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:23897873T>C	uc001wjx.3	-	14	1520	c.1414A>G	c.(1414-1416)Agc>Ggc	p.S472G		NM_000257	NP_000248	P12883	MYH7_HUMAN	Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA.	472	Myosin head-like.				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TGCTCAAAGCTGTTGAACTGC	0.582000														17			11		0	0	1	0	0
TRMT61A	115708	broad.mit.edu	37	14	103996558	103996558	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:103996558G>A	uc001yng.3	+	1	362	c.243G>A	c.(241-243)ccG>ccA	p.P81P	TRMT61A_uc010aws.3_Intron	NM_152307	NP_689520	Q96FX7	TRM61_HUMAN	Homo sapiens tRNA methyltransferase 61 homolog A (S. cerevisiae) (TRMT61A), mRNA.	81						nucleus	protein binding|tRNA (adenine-N1-)-methyltransferase activity			skin(1)	1						TGAACCTGCCGCACCGCACGC	0.632000														56			29		0	0	1	0	0
LIPN	643418	broad.mit.edu	37	10	90526114	90526114	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:90526114C>T	uc010qmw.2	+	3	514	c.514C>T	c.(514-516)Cat>Tat	p.H172Y		NM_001102469	NP_001095939	Q5VXI9	LIPN_HUMAN	Homo sapiens lipase, family member N (LIPN), mRNA.	172					lipid catabolic process	extracellular region	hydrolase activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|skin(1)	9		Colorectal(252;0.0161)		Colorectal(12;4.83e-05)|COAD - Colon adenocarcinoma(12;6.5e-05)		TTTCATTGGACATTCACTTGG	0.363000														51			20		0	0	1	0	0
PRDX1	5052	broad.mit.edu	37	1	45981480	45981480	+	Splice_Site	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:45981480C>T	uc001coc.3	-	3	422	c.107_splice	c.e3-1	p.G36_splice	PRDX1_uc001cob.3_Splice_Site_p.G36_splice|PRDX1_uc001coa.3_Splice_Site_p.G36_splice|PRDX1_uc021omw.1_Splice_Site_p.G36_splice	NM_181696	NP_859048	Q06830	PRDX1_HUMAN	Homo sapiens peroxiredoxin 1 (PRDX1), transcript variant 2, mRNA.	36	Thioredoxin.				cell proliferation|cell redox homeostasis|hydrogen peroxide catabolic process|skeletal system development	melanosome|mitochondrion|nucleus	protein binding|thioredoxin peroxidase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|skin(1)	12	Acute lymphoblastic leukemia(166;0.155)					ACATATTTTCCTGGGGGGAAA	0.403000														30			26		0	0	1	0	0
OR1J2	26740	broad.mit.edu	37	9	125273822	125273822	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:125273822G>A	uc011lyv.2	+	0	742	c.742G>A	c.(742-744)Gtg>Atg	p.V248M	OR1J2_uc004bmj.2_Missense_Mutation_p.V248M	NM_054107	NP_473448	Q8NGS2	OR1J2_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily J, member 2 (OR1J2), mRNA.	248					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1)	26						TCTCTCTGTGGTGTCTCTCTA	0.488000														95			52		0	0	1	0	0
LZTS1	11178	broad.mit.edu	37	8	20110344	20110344	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:20110344G>A	uc003wzr.3	-	1	1209	c.1098C>T	c.(1096-1098)taC>taT	p.Y366Y	LZTS1_uc010ltg.2_Silent_p.Y366Y	NM_021020	NP_066300	Q9Y250	LZTS1_HUMAN	Homo sapiens leucine zipper, putative tumor suppressor 1 (LZTS1), mRNA.	366					cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	Golgi apparatus|cell junction|dendritic spine|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		TCTCCCTCTCGTAGGACCTGA	0.642000														18			18		0	0	1	0	0
MN1	4330	broad.mit.edu	37	22	28192905	28192905	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:28192905G>A	uc003adj.3	-	0	4582	c.3627C>T	c.(3625-3627)agC>agT	p.S1209S		NM_002430	NP_002421	Q10571	MN1_HUMAN	Homo sapiens meningioma (disrupted in balanced translocation) 1 (MN1), mRNA.	1209							binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						TGCTCATGGCGCTCTTGACCG	0.667000			T	ETV6	"""AML, meningioma"""									21			17		0	0	1	0	0
ZNF592	9640	broad.mit.edu	37	15	85341659	85341659	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:85341659G>A	uc002bld.3	+	6	3026	c.2690G>A	c.(2689-2691)tGc>tAc	p.C897Y	ZNF592_uc010upb.2_Non-coding_Transcript	NM_014630	NP_055445	Q92610	ZN592_HUMAN	Homo sapiens zinc finger protein 592 (ZNF592), mRNA.	897					cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			TGCCCTGAGTGCCCACTCTTG	0.567000														22			14		0	0	1	0	0
RCHY1	25898	broad.mit.edu	37	4	76434492	76434492	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:76434492G>A	uc003hik.3	-	1	249	c.105C>T	c.(103-105)gaC>gaT	p.D35D	RCHY1_uc003hij.3_Silent_p.D35D|RCHY1_uc021xpe.1_Non-coding_Transcript|RCHY1_uc010iiq.3_Non-coding_Transcript|RCHY1_uc003hil.3_Silent_p.D35D|RCHY1_uc010iip.3_Silent_p.D35D|RCHY1_uc010iir.3_Intron	NM_015436	NP_056251	Q96PM5	ZN363_HUMAN	Homo sapiens ring finger and CHY zinc finger domain containing 1 (RCHY1), transcript variant 1, mRNA.	35					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein autoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nuclear speck|ubiquitin ligase complex	electron carrier activity|p53 binding|protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(2)|pancreas(1)	3			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			TATAAAGCTTGTCACAGCAAG	0.373000														13			5		0	0	1	0	0
MEGF6	1953	broad.mit.edu	37	1	3428618	3428618	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:3428618C>T	uc001akl.3	-	7	1155	c.928G>A	c.(928-930)Gtg>Atg	p.V310M	MEGF6_uc001akk.3_Missense_Mutation_p.V205M	NM_001409	NP_001400	O75095	MEGF6_HUMAN	Homo sapiens multiple EGF-like-domains 6 (MEGF6), mRNA.	310	EGF-like 5; calcium-binding (Potential).					extracellular region	calcium ion binding			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		GCGTGACACACGCACTTGAAG	0.667000														49			38		0	0	1	0	0
C5orf55	116349	broad.mit.edu	37	5	442595	442595	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:442595C>T	uc010ita.3	-	0	664	c.343G>A	c.(343-345)Gca>Aca	p.A115T	EXOC3_uc003jba.3_5'Flank	NM_138464	NP_612473	Q8N2X6	CE055_HUMAN	Homo sapiens chromosome 5 open reading frame 55 (C5orf55), mRNA.	115						extracellular region				large_intestine(1)|lung(2)	3						CGGCCCTCTGCAGCGCGGCCC	0.642000														48			5		0	0	1	0	0
SNX33	257364	broad.mit.edu	37	15	75942139	75942139	+	Nonsense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:75942139C>A	uc002bau.3	+	0	792	c.696C>A	c.(694-696)tgC>tgA	p.C232*	IMP3_uc002bat.2_5'Flank|SNX33_uc002bav.3_5'UTR	NM_153271	NP_695003	Q8WV41	SNX33_HUMAN	Homo sapiens sorting nexin 33 (SNX33), mRNA.	232	PX.				cell communication		phosphatidylinositol binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	19						CATTTGCCTGCTCTGTGGAGG	0.562000														99			5		0.00116845	0.00123466	1	1	0
RYR2	6262	broad.mit.edu	37	1	237732539	237732539	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:237732539T>C	uc001hyl.1	+	28	3638	c.3518T>C	c.(3517-3519)aTg>aCg	p.M1173T		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	1173	4 X approximate repeats.|B30.2/SPRY 2.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GAACACACCATGATGTTCACA	0.483000														26			8		0	0	1	0	0
OR6N2	81442	broad.mit.edu	37	1	158747166	158747166	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:158747166C>A	uc010pir.2	-	0	260	c.260G>T	c.(259-261)aGt>aTt	p.S87I		NM_001005278	NP_001005278	Q8NGY6	OR6N2_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily N, member 2 (OR6N2), mRNA.	87					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(112;0.0378)					TTTCTTCTCACTGAGAATATT	0.448000														164			7		0.000157383	0.000170012	1	1	0
SORCS3	22986	broad.mit.edu	37	10	107016646	107016646	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:107016646T>C	uc001kyi.1	+	24	3634	c.3407T>C	c.(3406-3408)gTt>gCt	p.V1136A		NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA.	1136						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		GTGGTATTTGTTGGCCTGGCT	0.418000														21			12		0	0	1	0	0
PAPPA	5069	broad.mit.edu	37	9	119093569	119093569	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:119093569A>C	uc004bjn.3	+	10	3575	c.3194A>C	c.(3193-3195)cAt>cCt	p.H1065P	PAPPA_uc011lxp.1_Missense_Mutation_p.H760P|PAPPA_uc011lxq.2_Missense_Mutation_p.H440P	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA.	1065					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						ATTTCCCAGCATGCCTGGTAC	0.453000														55			5		0	0	1	0	0
GREB1	9687	broad.mit.edu	37	2	11750821	11750821	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:11750821C>T	uc002rbk.1	+	17	2974	c.2674C>T	c.(2674-2676)Cgc>Tgc	p.R892C	GREB1_uc002rbo.1_Missense_Mutation_p.R526C|GREB1_uc002rbp.1_5'Flank	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN	Homo sapiens growth regulation by estrogen in breast cancer 1 (GREB1), transcript variant a, mRNA.	892						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		CAGGTTCCCCCGCCTGCACAG	0.627000														18			18		0	0	1	0	0
LPXN	9404	broad.mit.edu	37	11	58331658	58331658	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:58331658G>A	uc001nmw.3	-	2	333	c.188C>T	c.(187-189)aCt>aTt	p.T63I	LPXN_uc009ymp.3_5'UTR|LPXN_uc010rkj.2_Missense_Mutation_p.T68I|LPXN_uc010rkk.2_Intron	NM_004811	NP_004802	O60711	LPXN_HUMAN	Homo sapiens leupaxin (LPXN), transcript variant 2, mRNA.	63					cell adhesion|protein complex assembly|signal transduction	cytoplasm	zinc ion binding			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				GATATTGGTAGTATACACGAG	0.303000														35			11		0	0	1	0	0
TNS4	84951	broad.mit.edu	37	17	38645061	38645061	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:38645061G>A	uc010cxb.3	-	2	764	c.600C>T	c.(598-600)agC>agT	p.S200S		NM_032865	NP_116254	Q8IZW8	TENS4_HUMAN	Homo sapiens tensin 4 (TNS4), mRNA.	200	Ser-rich.				apoptosis|protein localization	cytoplasm|cytoskeleton|focal adhesion	actin binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			AGAAGATGAGGCTCTCACTGC	0.657000														44			26		0	0	1	0	0
NCAN	1463	broad.mit.edu	37	19	19330052	19330052	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:19330052C>A	uc002nlz.3	+	2	501	c.402C>A	c.(400-402)gaC>gaA	p.D134E		NM_004386	NP_004377	O14594	NCAN_HUMAN	Homo sapiens neurocan (NCAN), mRNA.	134	Ig-like V-type.				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			GGGCCAGTGACTCTGGGCTGT	0.662000														9			5		0.184627	0.186034	1	1	0
SLC25A40	55972	broad.mit.edu	37	7	87476301	87476301	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:87476301G>A	uc003uje.3	-	7	969	c.594C>T	c.(592-594)ggC>ggT	p.G198G		NM_018843	NP_061331	Q8TBP6	S2540_HUMAN	Homo sapiens solute carrier family 25, member 40 (SLC25A40), nuclear gene encoding mitochondrial protein, mRNA.	198					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	17	Esophageal squamous(14;0.00202)					TAGGAGCCCAGCCCCTCCAAA	0.388000														94			98		0	0	1	0	0
TANC2	26115	broad.mit.edu	37	17	61392000	61392000	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:61392000G>A	uc002jal.4	+	7	1212	c.1189G>A	c.(1189-1191)Gcc>Acc	p.A397T	TANC2_uc010wpe.2_Missense_Mutation_p.A307T	NM_025185	NP_079461	Q9HCD6	TANC2_HUMAN	Homo sapiens tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 (TANC2), mRNA.	397							binding	p.A397T(3)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						GAGACAGATCGCCTCAGACAG	0.473000														76			36		0	0	1	0	0
SPANXN1	494118	broad.mit.edu	37	X	144337285	144337285	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:144337285G>T	uc004fcb.2	+	1	170	c.170G>T	c.(169-171)aGg>aTg	p.R57M		NM_001009614	NP_001009614	Q5VSR9	SPXN1_HUMAN	Homo sapiens SPANX family, member N1 (SPANXN1), mRNA.	57								p.R57M(3)|p.Y56*(1)		endometrium(2)|kidney(2)|lung(8)|prostate(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					TTTTGCTACAGGAAAGCTAAG	0.438000														62			32		1.74807e-11	2.1378e-11	1	1	0
DNAH8	1769	broad.mit.edu	37	6	38705719	38705719	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:38705719C>T	uc021yzh.1	+	6	1196	c.1087C>T	c.(1087-1089)Ctg>Ttg	p.L363L	DNAH8_uc003ooe.2_Silent_p.L146L	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GGAGGAAGTGCTGATGGTATG	0.403000														116			7		0	0	1	0	0
AGFG2	3268	broad.mit.edu	37	7	100160220	100160220	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100160220C>A	uc003uvf.3	+	7	1138	c.1002C>A	c.(1000-1002)ctC>ctA	p.L334L		NM_006076	NP_006067	O95081	AGFG2_HUMAN	Homo sapiens ArfGAP with FG repeats 2 (AGFG2), mRNA.	334					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GTTGTAGCCTCTTCGGGATGG	0.642000														39			5		0.0215528	0.0220531	1	1	0
SMO	6608	broad.mit.edu	37	7	128845485	128845485	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:128845485G>A	uc003vor.3	+	3	1062	c.782G>A	c.(781-783)cGc>cAc	p.R261H	SMO_uc003vos.3_5'Flank	NM_005631	NP_005622	Q99835	SMO_HUMAN	Homo sapiens smoothened, frizzled family receptor (SMO), mRNA.	261					adenohypophysis development|axon extension involved in axon guidance|canonical Wnt receptor signaling pathway|cardioblast differentiation|central nervous system neuron differentiation|cerebellar cortex morphogenesis|ciliary receptor clustering involved in smoothened signaling pathway|determination of left/right symmetry|dorsal/ventral neural tube patterning|embryonic camera-type eye development|embryonic digestive tract morphogenesis|embryonic neurocranium morphogenesis|embryonic viscerocranium morphogenesis|exocrine pancreas development|facial nerve development|floor plate formation|gonad development|heart morphogenesis|muscle cell fate commitment|negative regulation of apoptosis|neural crest cell migration|neuron fate commitment|neuron projection regeneration|odontogenesis of dentine-containing tooth|osteoblast differentiation|otolith morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of neuroblast proliferation|positive regulation of smoothened signaling pathway|semicircular canal morphogenesis|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation|smoothened signaling pathway involved in ventral spinal cord patterning|spermatogenesis|vasculogenesis	cilium|cytoplasm|integral to membrane|neuronal cell body|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			biliary_tract(1)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(14)|liver(1)|lung(11)|pancreas(2)|prostate(1)|skin(20)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						AACTCGAATCGCTACCCTGCT	0.537000			Mis		skin basal cell									96			25		0	0	1	0	0
ARMCX1	51309	broad.mit.edu	37	X	100808288	100808288	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:100808288A>C	uc022cak.1	+	0	375	c.375A>C	c.(373-375)aaA>aaC	p.K125N	ARMCX1_uc004ehv.3_Missense_Mutation_p.K125N|ARMCX1_uc004ehw.3_Missense_Mutation_p.K125N	NM_016608	NP_057692	Q9P291	ARMX1_HUMAN	Homo sapiens armadillo repeat containing, X-linked 1 (ARMCX1), mRNA.	125						integral to membrane	binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(2)|ovary(3)|pancreas(1)|urinary_tract(1)	19						AGGCAGGCAAAGGGGCTAGGG	0.612000														99			9		0	0	1	0	0
F13A1	2162	broad.mit.edu	37	6	6318784	6318784	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:6318784C>T	uc003mwv.3	-	1	237	c.114G>A	c.(112-114)cgG>cgA	p.R38R	F13A1_uc011dib.2_Silent_p.R38R	NM_000129	NP_000120	P00488	F13A_HUMAN	Homo sapiens coagulation factor XIII, A1 polypeptide (F13A1), mRNA.	38		Cleavage; by thrombin; to produce active factor XIII-A.			peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	GGTTGACGCCCCGGGGCACCA	0.622000														85			38		0	0	1	0	0
TM7SF2	7108	broad.mit.edu	37	11	64880801	64880801	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:64880801C>A	uc001ocv.3	+	1	1074	c.477C>A	c.(475-477)acC>acA	p.T159T	TM7SF2_uc001oct.3_Silent_p.T138T|TM7SF2_uc010rny.2_Silent_p.T22T|TM7SF2_uc001ocu.3_Silent_p.T138T	NM_003273	NP_003264	O76062	ERG24_HUMAN	Homo sapiens transmembrane 7 superfamily member 2 (TM7SF2), mRNA.	138					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane	delta14-sterol reductase activity			lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TTGTCGCCACCCTCACCGCTT	0.647000											OREG0021072	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		73			8		0.000157383	0.000170012	1	1	0
ADAMTS19	171019	broad.mit.edu	37	5	129070634	129070634	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:129070634A>G	uc003kvb.1	+	21	3304	c.3304A>G	c.(3304-3306)Acc>Gcc	p.T1102A	ADAMTS19_uc010jdh.1_Non-coding_Transcript	NM_133638	NP_598377	Q8TE59	ATS19_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 19 (ADAMTS19), mRNA.	1102	TSP type-1 5.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.I1101V(1)		NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		GTGCTCAATTACCTGTGGCAA	0.358000														31			31		0	0	1	0	0
TNKS1BP1	85456	broad.mit.edu	37	11	57077836	57077836	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:57077836C>A	uc001njr.3	-	4	2661	c.2349G>T	c.(2347-2349)ggG>ggT	p.G783G	TNKS1BP1_uc001njs.3_Silent_p.G783G|TNKS1BP1_uc009ymd.1_Silent_p.G234G	NM_033396	NP_203754	Q9C0C2	TB182_HUMAN	Homo sapiens tankyrase 1 binding protein 1, 182kDa (TNKS1BP1), mRNA.	783	Acidic.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding	p.G783G(2)		breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				TGCTCCCTTCCCCTGCTCCTT	0.627000														77			10		1.58986e-06	1.80238e-06	1	1	0
GON4L	54856	broad.mit.edu	37	1	155642405	155642405	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155642405A>C	uc010pgi.2	-	5	1135	c.943T>G	c.(943-945)Ttc>Gtc	p.F315V	GON4L_uc021paz.1_Missense_Mutation_p.F177V|GON4L_uc010pgg.2_Missense_Mutation_p.F82V|GON4L_uc010pgh.2_Missense_Mutation_p.F166V|GON4L_uc009wqt.3_Missense_Mutation_p.F166V|GON4L_uc001flh.3_Missense_Mutation_p.F315V|GON4L_uc001fll.3_Missense_Mutation_p.F177V|GON4L_uc001flk.3_Missense_Mutation_p.F166V|GON4L_uc001flm.3_Missense_Mutation_p.F166V|GON4L_uc009wqu.3_Missense_Mutation_p.F10V|GON4L_uc009wqv.3_5'UTR|GON4L_uc009wqw.3_Missense_Mutation_p.F166V|GON4L_uc001flj.3_Missense_Mutation_p.F177V|GON4L_uc001fli.3_Missense_Mutation_p.F177V|GON4L_uc001flo.3_Missense_Mutation_p.F111V|GON4L_uc001fln.3_Missense_Mutation_p.F243V|GON4L_uc010pgj.2_Missense_Mutation_p.F243V|GON4L_uc001flp.3_Missense_Mutation_p.F177V|GON4L_uc009wqx.3_Missense_Mutation_p.F315V|GON4L_uc010pgk.2_Missense_Mutation_p.F315V	NM_001198903	NP_001185832	Q3T8J9	GON4L_HUMAN	Homo sapiens YY1 associated protein 1 (YY1AP1), transcript variant 10, mRNA.	766					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					TGTGTGCTGAAGTCTTCAATC	0.473000														23			20		0	0	1	0	0
AIM1	202	broad.mit.edu	37	6	106969187	106969187	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:106969187A>G	uc003prh.3	+	1	3792	c.2880A>G	c.(2878-2880)gaA>gaG	p.E960E		NM_001624	NP_001615	Q9Y4K1	AIM1_HUMAN	Homo sapiens absent in melanoma 1 (AIM1), mRNA.	960							sugar binding			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		ATGATATGGAAAAGGCTAATC	0.363000														62			5		0	0	1	0	0
XIRP1	165904	broad.mit.edu	37	3	39229155	39229155	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:39229155G>T	uc003cjk.2	-	1	2011	c.1782C>A	c.(1780-1782)atC>atA	p.I594I	XIRP1_uc003cji.3_Silent_p.I594I|XIRP1_uc003cjj.3_Intron|XIRP1_uc021wvz.1_Silent_p.I594I	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	Homo sapiens xin actin-binding repeat containing 1 (XIRP1), transcript variant 1, mRNA.	594	Interaction with CTNNB1 (By similarity).						actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		ACAACCACCGGATGGTCTGCA	0.587000														33			30		9.65021e-13	1.19376e-12	1	1	0
LRRC37A2	474170	broad.mit.edu	37	17	45127159	45127159	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:45127159G>A	uc010wkj.1	+	1	711	c.357G>A	c.(355-357)gcG>gcA	p.A119A	ARL17_uc021tzb.1_Intron|DQ597730_uc010wkl.2_Non-coding_Transcript			A6NM11	L37A2_HUMAN	Homo sapiens cDNA FLJ42521 fis, clone BRACE3000973.	1255						integral to membrane				endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|pancreas(4)|prostate(2)	15		Melanoma(429;0.211)		BRCA - Breast invasive adenocarcinoma(366;0.232)		CCAAGGGCGCGCCTTCTACCT	0.522000														54			6		0	0	1	0	0
TNC	3371	broad.mit.edu	37	9	117840388	117840388	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:117840388G>T	uc004bjj.4	-	6	2920	c.2508C>A	c.(2506-2508)acC>acA	p.T836T	TNC_uc010mvf.3_Silent_p.T836T|TNC_uc022bmj.1_Silent_p.T836T	NM_002160	NP_002151	P24821	TENA_HUMAN	Homo sapiens tenascin C (TNC), mRNA.	836	Fibronectin type-III 3.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						TGATGCCGTAGGTCAGCTCAA	0.557000														31			16		9.16793e-09	1.08001e-08	1	1	0
NEB	4703	broad.mit.edu	37	2	152422294	152422294	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:152422294C>T	uc021vrb.1	-	85	13123	c.13094G>A	c.(13093-13095)gGc>gAc	p.G4365D	NEB_uc002txr.3_Missense_Mutation_p.G831D|NEB_uc002txu.3_Missense_Mutation_p.G6066D|NEB_uc021vrc.1_Missense_Mutation_p.G6066D|NEB_uc010fnx.3_Missense_Mutation_p.G4353D|NEB_uc021vrd.1_Missense_Mutation_p.G4365D	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	4365					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TGGGATCCAGCCAATGCCTCG	0.478000														9			4		0	0	1	0	0
HR	55806	broad.mit.edu	37	8	21984708	21984708	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:21984708C>A	uc003xas.3	-	2	1912	c.1247G>T	c.(1246-1248)aGc>aTc	p.S416I	HR_uc003xat.3_Missense_Mutation_p.S416I	NM_005144	NP_005135	O43593	HAIR_HUMAN	Homo sapiens hairless homolog (mouse) (HR), transcript variant 1, mRNA.	416							DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		GACCTCGGGGCTGCCTGCCCT	0.677000														74			6		5.9392e-07	6.7814e-07	1	1	0
MFSD12	126321	broad.mit.edu	37	19	3547269	3547269	+	Splice_Site	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:3547269C>T	uc002lxw.3	-	6	1193	c.1023_splice	c.e6+1	p.N341_splice	MFSD12_uc002lxx.3_Splice_Site_p.N341_splice|MFSD12_uc002lxy.3_Splice_Site_p.N332_splice|MFSD12_uc002lxz.3_Splice_Site_p.N341_splice	NM_021731	NP_068377	Q6NUT3	CS028_HUMAN	Homo sapiens major facilitator superfamily domain containing 12 (MFSD12), transcript variant 1, mRNA.	341					transmembrane transport	integral to membrane				cervix(1)|endometrium(2)|lung(4)|urinary_tract(2)	9						CGCCCACTCACGTTCCTCCCA	0.627000														43			18		0	0	1	0	0
CNTNAP1	8506	broad.mit.edu	37	17	40839862	40839862	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:40839862G>A	uc002iay.3	+	7	1385	c.1169G>A	c.(1168-1170)cGc>cAc	p.R390H	CNTNAP1_uc010wgs.2_Non-coding_Transcript	NM_003632	NP_003623	P78357	CNTP1_HUMAN	Homo sapiens contactin associated protein 1 (CNTNAP1), mRNA.	390	Laminin G-like 2.				axon guidance|cell adhesion	paranode region of axon	SH3 domain binding|SH3/SH2 adaptor activity|receptor activity|receptor binding			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		TTTCGCTTCCGCACCTGGGAC	0.642000														50			23		0	0	1	0	0
STOX2	56977	broad.mit.edu	37	4	184930527	184930527	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:184930527C>T	uc003ivz.1	+	2	1971	c.536C>T	c.(535-537)aCg>aTg	p.T179M	STOX2_uc003iwa.1_5'UTR	NM_020225	NP_064610	Q9P2F5	STOX2_HUMAN	Homo sapiens storkhead box 2 (STOX2), mRNA.	179					embryo development|maternal placenta development					breast(1)|endometrium(7)|lung(6)	14		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)		GGGACCATCACGCCCTCTGCC	0.557000														60			23		0	0	1	0	0
BFSP1	631	broad.mit.edu	37	20	17475552	17475552	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:17475552C>T	uc002wpo.3	-	7	1204	c.1165G>A	c.(1165-1167)Gca>Aca	p.A389T	BFSP1_uc002wpp.3_Missense_Mutation_p.A264T|BFSP1_uc010zrn.2_Missense_Mutation_p.A250T|BFSP1_uc010zro.2_Missense_Mutation_p.A250T	NM_001195	NP_001186	Q12934	BFSP1_HUMAN	Homo sapiens beaded filament structural protein 1, filensin (BFSP1), transcript variant 1, mRNA.	389	Tail.					cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)|stomach(1)	18						TTTAATGGTGCATCTTCCAGA	0.393000														97			58		0	0	1	0	0
CD22	933	broad.mit.edu	37	19	35835805	35835805	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:35835805C>A	uc010edt.3	+	9	2193	c.2109C>A	c.(2107-2109)atC>atA	p.I703I	CD22_uc010edu.3_Silent_p.I615I|CD22_uc010edv.3_Silent_p.I703I|CD22_uc002nzb.4_Silent_p.I526I|CD22_uc010xst.2_Silent_p.I531I|CD22_uc010edx.3_Non-coding_Transcript	NM_001771	NP_001762	P20273	CD22_HUMAN	Homo sapiens CD22 molecule (CD22), transcript variant 1, mRNA.	703					cell adhesion		protein binding|sugar binding	p.A702S(1)		breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		OspA lipoprotein(DB00045)	TCCTGGCAATCTGTGGGCTCA	0.617000														68			70		5.00936e-31	6.61514e-31	1	1	0
FZD10	11211	broad.mit.edu	37	12	130649218	130649218	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:130649218G>A	uc001uii.3	+	0	2215	c.1731G>A	c.(1729-1731)tcG>tcA	p.S577S	FLJ31485_uc001uig.2_5'Flank|FLJ31485_uc001uih.2_5'Flank	NM_007197	NP_009128	Q9ULW2	FZD10_HUMAN	Homo sapiens frizzled family receptor 10 (FZD10), mRNA.	577					brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		CTGCCCAGTCGCCCACCTGCG	0.542000														11			8		0	0	1	0	0
CD5L	922	broad.mit.edu	37	1	157805642	157805642	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:157805642G>T	uc001frk.4	-	2	502	c.359C>A	c.(358-360)gCt>gAt	p.A120D		NM_005894	NP_005885	O43866	CD5L_HUMAN	Homo sapiens CD5 molecule-like (CD5L), mRNA.	120	SRCR 1.				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity	p.D119Y(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CGATGCCCCAGCATCTTCATC	0.498000														96			71		7.25294e-45	9.65206e-45	1	1	0
SYNE2	23224	broad.mit.edu	37	14	64608684	64608684	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:64608684C>T	uc001xgl.3	+	81	15414	c.15184C>T	c.(15184-15186)Cgt>Tgt	p.R5062C	SYNE2_uc001xgm.3_Missense_Mutation_p.R5062C|SYNE2_uc010apy.3_Missense_Mutation_p.R1447C|SYNE2_uc001xgn.3_Missense_Mutation_p.R24C|SYNE2_uc021rui.1_Missense_Mutation_p.R24C|SYNE2_uc001xgo.3_Non-coding_Transcript	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	5062					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		ATTGCCGTCTCGTAAAGCAAT	0.373000														22			9		0	0	1	0	0
CLCN5	1184	broad.mit.edu	37	X	49851517	49851517	+	Missense_Mutation	SNP	T	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:49851517T>A	uc004dos.1	+	7	1585	c.1337T>A	c.(1336-1338)tTt>tAt	p.F446Y	CLCN5_uc004dor.1_Missense_Mutation_p.F516Y|CLCN5_uc004doq.1_Missense_Mutation_p.F516Y|CLCN5_uc004dot.1_Missense_Mutation_p.F446Y	NM_000084	NP_000075	P51795	CLCN5_HUMAN	Homo sapiens chloride channel 5 (CLCN5), transcript variant 3, mRNA.	446					excretion	Golgi membrane|apical part of cell|endosome membrane|integral to plasma membrane	ATP binding|antiporter activity			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)	30	Ovarian(276;0.236)					ATATTCACCTTTGGCATGAAG	0.493000														27			21		0	0	1	0	0
PLEKHG2	64857	broad.mit.edu	37	19	39907053	39907053	+	Splice_Site	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:39907053G>T	uc010xuz.2	+	5	871	c.546_splice	c.e5+1	p.R182_splice	PLEKHG2_uc010xuy.2_Splice_Site_p.R123_splice|PLEKHG2_uc002olj.3_Splice_Site_p.R182_splice|PLEKHG2_uc010xva.2_Splice_Site	NM_022835	NP_073746	Q9H7P9	PKHG2_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 2 (PLEKHG2), mRNA.	182	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TTCGTGCAGAGGGTGAGTGGA	0.667000														76			13		2.27111e-07	2.61452e-07	1	1	0
VPS13C	54832	broad.mit.edu	37	15	62302756	62302756	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:62302756G>A	uc002agz.3	-	12	1017	c.926C>T	c.(925-927)cCt>cTt	p.P309L	VPS13C_uc002aha.3_Missense_Mutation_p.P266L|VPS13C_uc002ahb.2_Missense_Mutation_p.P309L|VPS13C_uc002ahc.2_Missense_Mutation_p.P266L	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog C (S. cerevisiae) (VPS13C), transcript variant 2A, mRNA.	309					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TTCTGCATAAGGATTCATGTA	0.373000														51			39		0	0	1	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18639269	18639269	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:18639269C>A	uc003zne.4	+	6	846	c.694C>A	c.(694-696)Ctc>Atc	p.L232I	ADAMTSL1_uc003znb.3_Missense_Mutation_p.L232I|ADAMTSL1_uc003znc.4_Missense_Mutation_p.L232I	NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN	Homo sapiens ADAMTS-like 1 (ADAMTSL1), transcript variant 4, mRNA.	232						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)		AACCAAAACCCTCCAGGGGAC	0.428000														39			5		3.59834e-05	3.95114e-05	1	1	0
WDR85	92715	broad.mit.edu	37	9	140472007	140472007	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:140472007G>T	uc004cnk.1	-	1	360	c.202C>A	c.(202-204)Ctg>Atg	p.L68M	WDR85_uc004cnm.1_Intron|WDR85_uc022bqk.1_Intron|WDR85_uc022bql.1_Non-coding_Transcript	NM_138778	NP_620133	Q9BTV6	WDR85_HUMAN	Homo sapiens WD repeat domain 85 (WDR85), mRNA.	68					peptidyl-diphthamide biosynthetic process from peptidyl-histidine					breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)	8	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.00029)|Epithelial(140;0.000509)		AAACTGTACAGGAAGAGACGG	0.443000														64			7		0.27861	0.27975	1	1	0
HARS	3035	broad.mit.edu	37	5	140056271	140056271	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140056271G>A	uc003lgv.3	-	9	1244	c.1162C>T	c.(1162-1164)Cgg>Tgg	p.R388W	HARS_uc003lgu.3_Missense_Mutation_p.R319W|HARS_uc011czm.2_Missense_Mutation_p.R348W|HARS_uc003lgw.3_Missense_Mutation_p.R368W|HARS_uc011czn.2_Missense_Mutation_p.R328W|HARS_uc011czo.2_Missense_Mutation_p.R314W|HARS_uc011czp.2_Missense_Mutation_p.R274W|HARS_uc011czq.2_Missense_Mutation_p.R278W	NM_002109	NP_002100	P12081	SYHC_HUMAN	Homo sapiens histidyl-tRNA synthetase (HARS), mRNA.	388					histidyl-tRNA aminoacylation	cytosol	ATP binding|histidine-tRNA ligase activity	p.E387Q(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		L-Histidine(DB00117)	GAGAAAATCCGCTCCACCCCA	0.562000														65			75		0	0	1	0	0
GPR6	2830	broad.mit.edu	37	6	110301030	110301030	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:110301030G>A	uc011eav.2	+	2	1004	c.760G>A	c.(760-762)Ggc>Agc	p.G254S	GPR6_uc011eaw.2_Missense_Mutation_p.G239S|GPR6_uc003ptu.3_Missense_Mutation_p.G239S|GPR6_uc021zds.1_Missense_Mutation_p.G239S	NM_005284	NP_005275	P46095	GPR6_HUMAN	Homo sapiens G protein-coupled receptor 6 (GPR6), mRNA.	239						integral to plasma membrane				breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488)		BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307)		CATGGTCTTCGGCATCATGCT	0.701000														16			6		0	0	1	0	0
HSPA14	51182	broad.mit.edu	37	10	14909123	14909123	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:14909123G>T	uc001inf.3	+	10	1176	c.1035G>T	c.(1033-1035)caG>caT	p.Q345H		NM_016299	NP_057383	Q0VDF9	HSP7E_HUMAN	Homo sapiens heat shock 70kDa protein 14 (HSPA14), transcript variant 1, mRNA.	345					'de novo' cotranslational protein folding	cytosol	ATP binding|protein binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)	17						CAAAGCTACAGCAACTGATTA	0.383000														120			11		0.00829132	0.00860413	1	1	0
CHRDL1	91851	broad.mit.edu	37	X	109924728	109924728	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:109924728C>T	uc004eou.4	-	9	1487	c.1138G>A	c.(1138-1140)Gtt>Att	p.V380I	CHRDL1_uc004eov.3_Missense_Mutation_p.V369I|CHRDL1_uc004eow.3_Missense_Mutation_p.V378I|CHRDL1_uc010nps.3_Missense_Mutation_p.V379I|CHRDL1_uc011mss.2_Missense_Mutation_p.V300I	NM_001143981	NP_001137453	Q9BU40	CRDL1_HUMAN	Homo sapiens chordin-like 1 (CHRDL1), transcript variant 1, mRNA.	372					BMP signaling pathway|cell differentiation|nervous system development|ossification	extracellular region				endometrium(1)|large_intestine(12)|liver(1)|lung(15)|prostate(1)|skin(1)	31						ATAGTCCAAACGTGGACCTCT	0.443000														120			20		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9066667	9066667	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9066667T>C	uc002mkp.3	-	2	20983	c.20779A>G	c.(20779-20781)Act>Gct	p.T6927A		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	6929	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						GTGGAAACAGTTGTATGCCCC	0.468000														167			125		0	0	1	0	0
NUP85	79902	broad.mit.edu	37	17	73231231	73231231	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:73231231C>T	uc002jng.1	+	17	2064	c.1804C>T	c.(1804-1806)Cgg>Tgg	p.R602W	NUP85_uc010wrv.1_Missense_Mutation_p.R556W|NUP85_uc002jnh.1_Missense_Mutation_p.R205W	NM_024844	NP_079120	Q9BW27	NUP85_HUMAN	Homo sapiens nucleoporin 85kDa (NUP85), mRNA.	602					carbohydrate metabolic process|glucose transport|mRNA transport|mitotic prometaphase|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	Nup107-160 complex|condensed chromosome kinetochore|cytosol|nuclear membrane|spindle	protein binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	16	all_lung(278;0.14)|Lung NSC(278;0.168)		all cancers(21;3.45e-06)			TGAGTTGATGCGGTGTCTGGA	0.537000														26			15		0	0	1	0	0
SCGB3A2	117156	broad.mit.edu	37	5	147261008	147261008	+	Splice_Site	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:147261008G>T	uc003lot.2	+	2	149	c.56_splice	c.e2-1	p.A19_splice		NM_054023	NP_473364	Q96PL1	SG3A2_HUMAN	Homo sapiens secretoglobin, family 3A, member 2 (SCGB3A2), mRNA.	19						extracellular region	binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTTCCTGCAGCTACTGCCTT	0.473000														67			36		3.33393e-15	4.19542e-15	1	1	0
PAX4	5078	broad.mit.edu	37	7	127255455	127255455	+	Splice_Site	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:127255455C>A	uc010lld.1	-	1	326	c.120_splice	c.e1+1	p.K40_splice	PAX4_uc003vmf.2_5'UTR|PAX4_uc003vmg.1_Splice_Site_p.K40_splice|PAX4_uc003vmh.3_5'UTR	NM_006193	NP_006184	O43316	PAX4_HUMAN	Homo sapiens paired box 4 (PAX4), mRNA.	48	Paired.				cell differentiation|endocrine pancreas development|organ morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						GGCCCATTACCTTAAGGATCC	0.592000														66			26		1.26454e-06	1.4387e-06	1	1	0
BIRC6	57448	broad.mit.edu	37	2	32702460	32702460	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:32702460C>T	uc010ezu.3	+	34	7011	c.6877C>T	c.(6877-6879)Cgt>Tgt	p.R2293C		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	Homo sapiens baculoviral IAP repeat containing 6 (BIRC6), mRNA.	2293					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					AATTCGTTTACGTCGGACAGC	0.338000														77			27		0	0	1	0	0
SUSD5	26032	broad.mit.edu	37	3	33255436	33255436	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:33255436C>T	uc003cfo.1	-	1	692	c.274G>A	c.(274-276)Gca>Aca	p.A92T		NM_015551	NP_056366	O60279	SUSD5_HUMAN	Homo sapiens sushi domain containing 5 (SUSD5), mRNA.	92	Link.				cell adhesion	integral to membrane	hyaluronic acid binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						GTACCATCTGCTAGCCAGCCA	0.542000														25			11		0	0	1	0	0
SMURF2	64750	broad.mit.edu	37	17	62557707	62557707	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:62557707C>A	uc002jep.1	-	11	1615	c.1227G>T	c.(1225-1227)caG>caT	p.Q409H	SMURF2_uc002jeq.1_Missense_Mutation_p.Q168H|SMURF2_uc002jer.1_Missense_Mutation_p.Q168H	NM_022739	NP_073576	Q9HAU4	SMUF2_HUMAN	Homo sapiens SMAD specific E3 ubiquitin protein ligase 2 (SMURF2), mRNA.	409					BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|membrane raft|nucleus|plasma membrane|ubiquitin ligase complex	SMAD binding|identical protein binding|ubiquitin-protein ligase activity	p.R408*(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(4)	22	Breast(5;1.32e-14)		BRCA - Breast invasive adenocarcinoma(8;9.88e-12)			TTTTCATGACCTGTCGATATG	0.373000														29			16		0.0242445	0.0248014	1	1	0
CEP120	153241	broad.mit.edu	37	5	122718703	122718703	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:122718703T>C	uc003ktk.3	-	12	1953	c.1837A>G	c.(1837-1839)Att>Gtt	p.I613V	CEP120_uc010jcz.2_Missense_Mutation_p.I587V|CEP120_uc011cwq.2_Missense_Mutation_p.I422V	NM_153223	NP_001159698	Q8N960	CE120_HUMAN	Homo sapiens centrosomal protein 120kDa (CEP120), transcript variant 1, mRNA.	613						centrosome				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	29						GAGATAAAAATCTCACGCATT	0.279000														21			15		0	0	1	0	0
HELZ	9931	broad.mit.edu	37	17	65103554	65103554	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:65103554A>G	uc010wqk.2	-	30	5162	c.4975T>C	c.(4975-4977)Ttc>Ctc	p.F1659L	HELZ_uc002jfv.4_Non-coding_Transcript|HELZ_uc002jfx.4_Missense_Mutation_p.F1658L	NM_014877	NP_055692			Homo sapiens helicase with zinc finger (HELZ), mRNA.											NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					GGTGAGTTGAATATCTGGGGT	0.478000														69			5		0	0	1	0	0
LAMB2	3913	broad.mit.edu	37	3	49159017	49159017	+	Silent	SNP	G	A	A	rs151292828	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49159017G>A	uc003cwe.3	-	30	5408	c.5109C>T	c.(5107-5109)cgC>cgT	p.R1703R	USP19_uc003cwb.3_5'Flank|USP19_uc003cvz.4_5'Flank|USP19_uc011bcg.2_5'Flank|USP19_uc011bch.2_5'Flank|USP19_uc003cwd.2_5'Flank|USP19_uc011bci.2_5'Flank	NM_002292	NP_002283	P55268	LAMB2_HUMAN	Homo sapiens laminin, beta 2 (laminin S) (LAMB2), mRNA.	1703	Domain I.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CCAGAGGACCGCGTAGCAGCT	0.607000														30			4		0	0	1	0	0
RCBTB2	1102	broad.mit.edu	37	13	49075921	49075921	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:49075921C>T	uc010tgg.2	-	10	1507	c.1216G>A	c.(1216-1218)Gat>Aat	p.D406N	RCBTB2_uc001vci.3_Missense_Mutation_p.D377N|RCBTB2_uc010tgh.2_Missense_Mutation_p.D127N|RCBTB2_uc001vch.3_Missense_Mutation_p.D401N|RCBTB2_uc001vcj.3_Missense_Mutation_p.D353N|RCBTB2_uc010acv.1_Non-coding_Transcript	NM_001268	NP_001259	O95199	RCBT2_HUMAN	Homo sapiens regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2 (RCBTB2), mRNA.	401	BTB 1.						Ran guanyl-nucleotide exchange factor activity			breast(5)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(3)	31		all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116)		TACTTTCCATCAACTAGAAAC	0.383000														26			15		0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	137814102	137814102	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:137814102C>T	uc002tva.1	+	1	159	c.159C>T	c.(157-159)agC>agT	p.S53S	THSD7B_uc010zbj.1_Non-coding_Transcript|THSD7B_uc002tvb.3_5'UTR	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GTGGTGAGAGCAACAGGCCTC	0.532000														21			16		0	0	1	0	0
CENPQ	55166	broad.mit.edu	37	6	49448778	49448778	+	Silent	SNP	T	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:49448778T>A	uc003ozh.1	+	5	551	c.462T>A	c.(460-462)ggT>ggA	p.G154G		NM_018132	NP_060602	Q7L2Z9	CENPQ_HUMAN	Homo sapiens centromere protein Q (CENPQ), mRNA.	154					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	chromosome, centromeric region|cytosol|nucleoplasm				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(4)|ovary(2)|prostate(1)	11	Lung NSC(77;0.0128)					ATGAAGAAGGTCTGGCATTAC	0.358000														57			6		0	0	1	0	0
ORC3	23595	broad.mit.edu	37	6	88317493	88317493	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:88317493C>T	uc003pmg.3	+	5	632	c.530C>T	c.(529-531)aCa>aTa	p.T177I	ORC3_uc011dzl.2_Missense_Mutation_p.T177I|ORC3_uc011dzm.2_Missense_Mutation_p.T177I|ORC3_uc011dzn.2_Non-coding_Transcript|ORC3_uc003pmh.3_Missense_Mutation_p.T177I|ORC3_uc011dzp.2_Missense_Mutation_p.T34I|ORC3_uc011dzo.2_Missense_Mutation_p.T34I	NM_181837	NP_862820	Q9UBD5	ORC3_HUMAN	Homo sapiens origin recognition complex, subunit 3 (ORC3), transcript variant 1, mRNA.	177					DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint	nuclear origin of replication recognition complex|nucleoplasm	DNA replication origin binding|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	28						CAAAGAAAGACACATTATTCA	0.363000														40			22		0	0	1	0	0
SECISBP2L	9728	broad.mit.edu	37	15	49309099	49309099	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:49309099G>A	uc001zxe.2	-	9	1629	c.1365C>T	c.(1363-1365)gcC>gcT	p.A455A	SECISBP2L_uc001zxd.2_Silent_p.A410A|SECISBP2L_uc010bep.2_Silent_p.A217A|SECISBP2L_uc010beq.2_Silent_p.A327A	NM_001193489	NP_001180418	Q93073	SBP2L_HUMAN	Homo sapiens SECIS binding protein 2-like (SECISBP2L), transcript variant 1, mRNA.	455										breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						CTGTGGCAAGGGCTGCTGCTA	0.368000														44			32		0	0	1	0	0
MMP19	4327	broad.mit.edu	37	12	56231369	56231369	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56231369C>T	uc001sib.3	-	7	1279	c.1158G>A	c.(1156-1158)tgG>tgA	p.W386*	MMP19_uc001sia.3_Nonsense_Mutation_p.W100*|MMP19_uc001sid.3_Non-coding_Transcript|MMP19_uc010spw.2_Intron	NM_002429	NP_002420	Q99542	MMP19_HUMAN	Homo sapiens matrix metallopeptidase 19 (MMP19), transcript variant 1, mRNA.	386	Hemopexin-like 3.				angiogenesis|cell differentiation|collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	26						GGTTGAGAGGCCAATAGAGAG	0.463000														44			17		0	0	1	0	0
NUP98	4928	broad.mit.edu	37	11	3704480	3704480	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:3704480G>A	uc001lyh.3	-	29	5289	c.4868C>T	c.(4867-4869)gCt>gTt	p.A1623V	NUP98_uc001lyi.3_Missense_Mutation_p.A1549V|NUP98_uc001lyg.3_Missense_Mutation_p.A588V	NM_016320	NP_057404	P52948	NUP98_HUMAN	Homo sapiens nucleoporin 98kDa (NUP98), transcript variant 1, mRNA.	1640					DNA replication|carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|mitotic prometaphase|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	Nup107-160 complex|cytosol|nuclear membrane|nucleoplasm	protein binding|structural constituent of nuclear pore|transporter activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		CCAGTGCTCAGCCTTAAATAA	0.527000			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML									31			17		0	0	1	0	0
PLEKHG3	26030	broad.mit.edu	37	14	65197870	65197870	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:65197870C>T	uc001xhp.2	+	5	871	c.832C>T	c.(832-834)Cac>Tac	p.H278Y	PLEKHG3_uc001xhn.1_Missense_Mutation_p.H222Y|PLEKHG3_uc001xho.1_Missense_Mutation_p.H278Y|PLEKHG3_uc010aqh.1_5'UTR	NM_015549	NP_056364	A1L390	PKHG3_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 3 (PLEKHG3), mRNA.	278					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		GAGGCATGAGCACGCGGTCCG	0.622000														31			22		0	0	1	0	0
ZCCHC2	54877	broad.mit.edu	37	18	60242354	60242354	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:60242354T>C	uc002lip.4	+	12	3040	c.3040T>C	c.(3040-3042)Tct>Cct	p.S1014P	ZCCHC2_uc002lio.2_Non-coding_Transcript|ZCCHC2_uc002liq.3_Missense_Mutation_p.S484P	NM_017742	NP_060212	Q9C0B9	ZCHC2_HUMAN	Homo sapiens zinc finger, CCHC domain containing 2 (ZCCHC2), mRNA.	1014					cell communication	cytoplasm	nucleic acid binding|phosphatidylinositol binding|zinc ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25						TCCTTGTGGTTCTTGTGGGCG	0.527000														13			10		0	0	1	0	0
SCML2	10389	broad.mit.edu	37	X	18276362	18276362	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:18276362C>T	uc004cyl.2	-	9	1232	c.1075G>A	c.(1075-1077)Gtc>Atc	p.V359I	SCML2_uc004cyk.3_Non-coding_Transcript|SCML2_uc010nfd.1_Missense_Mutation_p.V359I|SCML2_uc011miz.1_Missense_Mutation_p.V293I|SCML2_uc010nfc.2_Missense_Mutation_p.V95I	NM_006089	NP_006080	Q9UQR0	SCML2_HUMAN	Homo sapiens sex comb on midleg-like 2 (Drosophila) (SCML2), transcript variant 1, mRNA.	359					anatomical structure morphogenesis	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	36	Hepatocellular(33;0.183)					TTTACATAGACACAGACTTGA	0.423000														43			36		0	0	1	0	0
ATP7A	538	broad.mit.edu	37	X	77266736	77266736	+	Nonsense_Mutation	SNP	C	T	T	rs72554640		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:77266736C>T	uc004ecx.4	+	7	2093	c.1933C>T	c.(1933-1935)Cga>Tga	p.R645*	ATP7A_uc004ecw.2_3'UTR	NM_000052	NP_000043	Q04656	ATP7A_HUMAN	Homo sapiens ATPase, Cu++ transporting, alpha polypeptide (ATP7A), mRNA.	645					ATP biosynthetic process|T-helper cell differentiation|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						AGATCATAAACGAGAAATAAG	0.313000														55			26		0	0	1	0	0
ZNF578	147660	broad.mit.edu	37	19	53007958	53007958	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:53007958G>T	uc002pzp.4	+	4	358	c.114G>T	c.(112-114)tgG>tgT	p.W38C		NM_001099694	NP_001093164	Q96N58	ZN578_HUMAN	Homo sapiens zinc finger protein 578 (ZNF578), mRNA.	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		TGGCAGAGTGGAAATTCCTGA	0.458000														97			54		2.76378e-25	3.61557e-25	1	1	0
SLC13A4	26266	broad.mit.edu	37	7	135391027	135391027	+	Nonsense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:135391027G>T	uc003vtb.3	-	3	1076	c.387C>A	c.(385-387)tgC>tgA	p.C129*	SLC13A4_uc003vta.3_Nonsense_Mutation_p.C129*	NM_012450	NP_036582	Q9UKG4	S13A4_HUMAN	Homo sapiens solute carrier family 13 (sodium/sulfate symporters), member 4 (SLC13A4), mRNA.	129						integral to plasma membrane	sodium:sulfate symporter activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	24						ACGTGGTACAGCACATGAAGC	0.632000														67			6		0.00116845	0.00123466	1	1	0
BCAR3	8412	broad.mit.edu	37	1	94057826	94057826	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:94057826C>T	uc001dpz.3	-	3	757	c.482G>A	c.(481-483)cGa>cAa	p.R161Q	BCAR3_uc001dqa.3_Missense_Mutation_p.R161Q|BCAR3_uc001dqb.3_Missense_Mutation_p.R161Q|BCAR3_uc001dpy.3_Missense_Mutation_p.R70Q|LOC100129046_uc009wdn.3_Non-coding_Transcript	NM_003567	NP_003558	O75815	BCAR3_HUMAN	Homo sapiens breast cancer anti-estrogen resistance 3 (BCAR3), mRNA.	161	SH2.				response to drug|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		AGGTACCTGTCGGGGGATGCG	0.627000														30			16		0	0	1	0	0
HERPUD1	9709	broad.mit.edu	37	16	56969209	56969209	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:56969209G>T	uc002eke.1	+	1	619	c.210G>T	c.(208-210)agG>agT	p.R70S	HERPUD1_uc010vhj.1_Missense_Mutation_p.R131S|HERPUD1_uc002ekf.1_Missense_Mutation_p.R70S|HERPUD1_uc002ekg.1_Missense_Mutation_p.R70S|HERPUD1_uc010cco.1_Missense_Mutation_p.R131S|HERPUD1_uc010ccp.1_Missense_Mutation_p.R131S|HERPUD1_uc002ekh.1_5'Flank	NM_014685	NP_055500	Q15011	HERP1_HUMAN	Homo sapiens homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1 (HERPUD1), transcript variant 1, mRNA.	70	Ubiquitin-like.					endoplasmic reticulum membrane|integral to membrane	protein binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1)	11						AATGTCTCAGGGACTTGCTTC	0.413000			T	ERG	prostate									77			8		1.06961e-07	1.2399e-07	1	1	0
CD40LG	959	broad.mit.edu	37	X	135741287	135741287	+	Nonsense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:135741287G>T	uc004faa.3	+	4	571	c.499G>T	c.(499-501)Gga>Tga	p.G167*	CD40LG_uc010nsd.3_Nonsense_Mutation_p.G146*	NM_000074	NP_000065	P29965	CD40L_HUMAN	Homo sapiens CD40 ligand (CD40LG), mRNA.	167					B cell proliferation|anti-apoptosis|inflammatory response|isotype switching|leukocyte cell-cell adhesion|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of interleukin-12 production	extracellular space|integral to plasma membrane|soluble fraction	CD40 receptor binding|cytokine activity|tumor necrosis factor receptor binding	p.Q166H(1)		endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|skin(1)|stomach(1)	26	Acute lymphoblastic leukemia(192;0.000127)				Atorvastatin(DB01076)	TAAAAGACAAGGACTCTATTA	0.458000									Immune Deficiency with Hyper-IgM					239			156		7.32068e-81	9.77322e-81	1	1	0
USP39	10713	broad.mit.edu	37	2	85848692	85848692	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:85848692G>A	uc002sqe.3	+	2	459	c.423G>A	c.(421-423)aaG>aaA	p.K141K	USP39_uc002sqb.3_5'UTR|USP39_uc010ysu.2_Silent_p.K63K|USP39_uc010ysv.2_Intron|USP39_uc010fgn.1_Silent_p.K141K|USP39_uc002sqg.3_Silent_p.K141K|USP39_uc010fgo.3_Silent_p.K141K	NM_006590	NP_006581	Q53GS9	SNUT2_HUMAN	Homo sapiens ubiquitin specific peptidase 39 (USP39), mRNA.	141					spliceosome assembly|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	19						TGTGTGGCAAGTACTTTCAAG	0.388000														50			30		0	0	1	0	0
FAM160B2	64760	broad.mit.edu	37	8	21957283	21957283	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:21957283C>T	uc011kyx.2	+	9	1271	c.1220C>T	c.(1219-1221)gCg>gTg	p.A407V	FAM160B2_uc011kyy.2_Non-coding_Transcript	NM_022749	NP_073586	Q86V87	F16B2_HUMAN	Homo sapiens family with sequence similarity 160, member B2 (FAM160B2), mRNA.	407										endometrium(2)|kidney(1)|lung(2)|prostate(3)|urinary_tract(1)	9						CGCTCCCCTGCGCTGCTGCGG	0.672000														14			17		0	0	1	0	0
FMR1	2332	broad.mit.edu	37	X	147013976	147013976	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:147013976A>G	uc010nst.3	+	7	892	c.663A>G	c.(661-663)gaA>gaG	p.E221E	FMR1_uc011mwz.2_Silent_p.E221E|FMR1_uc004fcj.3_Silent_p.E221E|FMR1_uc022cgc.1_Silent_p.E221E|FMR1_uc022cgd.1_Non-coding_Transcript|FMR1_uc004fck.4_Silent_p.E221E|FMR1_uc022cge.1_Silent_p.E221E|FMR1_uc022cgf.1_Silent_p.E221E|FMR1_uc022cgg.1_Non-coding_Transcript|FMR1_uc004fcl.4_Silent_p.E82E|FMR1_uc011mxa.2_5'UTR	NM_002024	NP_002015	Q06787	FMR1_HUMAN	Homo sapiens fragile X mental retardation 1 (FMR1), transcript variant ISO1, mRNA.	221					mRNA transport|negative regulation of translational initiation	cytoplasm|mRNA cap binding complex|nucleolus|nucleoplasm|soluble fraction	mRNA binding|protein binding			NS(1)|breast(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	35	Acute lymphoblastic leukemia(192;6.56e-05)					GATTTCATGAACAGTTTATCG	0.418000									Fragile X syndrome					84			48		0	0	1	0	0
C9orf156	51531	broad.mit.edu	37	9	100672556	100672556	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:100672556G>A	uc004axv.1	-	3	829	c.752C>T	c.(751-753)gCa>gTa	p.A251V	C9orf156_uc004axw.1_Missense_Mutation_p.A148V|C9orf156_uc010msq.1_Missense_Mutation_p.A148V	NM_016481	NP_057565	Q9BU70	NAP1_HUMAN	Homo sapiens chromosome 9 open reading frame 156 (C9orf156), mRNA.	251					interspecies interaction between organisms		hydrolase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)	13		Acute lymphoblastic leukemia(62;0.158)				AAAATCCACTGCTATCTCCCT	0.443000														113			11		0	0	1	0	0
CABP2	51475	broad.mit.edu	37	11	67287408	67287408	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:67287408C>T	uc001ome.1	-	5	599	c.511G>A	c.(511-513)Gac>Aac	p.D171N	CABP2_uc001omc.1_Missense_Mutation_p.D165N			Q9NPB3	CABP2_HUMAN	Homo sapiens calcium binding protein 2 (CABP2), mRNA.	165	EF-hand 3.				signal transduction	Golgi apparatus|perinuclear region of cytoplasm|plasma membrane	calcium ion binding			endometrium(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	9						CCATTGGTGTCGAACTGTGGC	0.692000														5			9		0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21061301	21061301	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:21061301G>T	uc010vbe.2	-	29	4277	c.4277C>A	c.(4276-4278)gCt>gAt	p.A1426D		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	1426	AAA 1 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		ACCCTCTGGAGCACCCCCAAG	0.507000														65			36		1.59361e-14	1.99648e-14	1	1	0
LRRC31	79782	broad.mit.edu	37	3	169574503	169574503	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:169574503C>T	uc003fgc.1	-	3	710	c.645G>A	c.(643-645)ggG>ggA	p.G215G	LRRC31_uc010hwp.1_Silent_p.G159G	NM_024727	NP_079003	Q6UY01	LRC31_HUMAN	Homo sapiens leucine rich repeat containing 31 (LRRC31), mRNA.	215										cervix(3)|endometrium(3)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	31	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)			CCAGAAATGTCCCATCTTCTG	0.403000														35			16		0	0	1	0	0
ZFAT	57623	broad.mit.edu	37	8	135649810	135649810	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:135649810G>A	uc003yup.3	-	2	528	c.342C>T	c.(340-342)agC>agT	p.S114S	ZFAT_uc003yun.3_Silent_p.S102S|ZFAT_uc003yuo.3_Silent_p.S102S|ZFAT_uc010meh.3_Silent_p.S102S|ZFAT_uc010mej.3_Silent_p.S114S|ZFAT_uc010mei.3_Non-coding_Transcript|ZFAT_uc003yuq.3_Silent_p.S102S|ZFAT_uc003yur.3_Silent_p.S102S	NM_020863	NP_001161055	Q9P243	ZFAT_HUMAN	Homo sapiens zinc finger and AT hook domain containing (ZFAT), transcript variant 1, mRNA.	114					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			ACTCCAAGCTGCTTGGAGGCA	0.572000														31			16		0	0	1	0	0
TRAF4	9618	broad.mit.edu	37	17	27076339	27076339	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:27076339T>C	uc002hcs.3	+	6	1265	c.1157T>C	c.(1156-1158)gTc>gCc	p.V386A	TRAF4_uc002hcq.1_Intron	NM_004295	NP_004286	Q9BUZ4	TRAF4_HUMAN	Homo sapiens TNF receptor-associated factor 4 (TRAF4), mRNA.	386	MATH.				apoptosis|positive regulation of JNK cascade|positive regulation of protein homodimerization activity|positive regulation of protein kinase activity|regulation of apoptosis|signal transduction	cytoskeleton|nucleus|perinuclear region of cytoplasm|tight junction	DNA binding|WW domain binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10	Lung NSC(42;0.01)		Epithelial(11;3.26e-05)|all cancers(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.235)			GCCCGCCGTGTCACCTTCTCC	0.567000														23			14		0	0	1	0	0
TECPR1	25851	broad.mit.edu	37	7	97874290	97874290	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:97874290C>T	uc003upg.3	-	3	520	c.315G>A	c.(313-315)ccG>ccA	p.P105P	TECPR1_uc003uph.1_Silent_p.P26P	NM_015395	NP_056210	Q7Z6L1	TCPR1_HUMAN	Homo sapiens tectonin beta-propeller repeat containing 1 (TECPR1), mRNA.	105						integral to membrane	protein binding			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CCCTGTCCAGCGGCCGGTGCT	0.637000														10			15		0	0	1	0	0
GABPA	2551	broad.mit.edu	37	21	27117541	27117541	+	Missense_Mutation	SNP	C	T	T	rs140080802	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:27117541C>T	uc002ylx.4	+	2	248	c.98C>T	c.(97-99)gCg>gTg	p.A33V	GABPA_uc002yly.4_Missense_Mutation_p.A33V	NM_001197297	NP_001184226	Q06546	GABPA_HUMAN	Homo sapiens GA binding protein transcription factor, alpha subunit 60kDa (GABPA), transcript variant 2, mRNA.	33					positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding	p.A33A(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	24						CAAACCTACGCGCCAGCTGAA	0.373000														51			19		0	0	1	0	0
PROM2	150696	broad.mit.edu	37	2	95947042	95947042	+	Missense_Mutation	SNP	G	A	A	rs142421342	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:95947042G>A	uc002suk.3	+	11	1613	c.1480G>A	c.(1480-1482)Gcc>Acc	p.A494T	PROM2_uc002suh.2_Missense_Mutation_p.A494T|PROM2_uc002sui.3_Missense_Mutation_p.A494T|PROM2_uc002suj.3_Missense_Mutation_p.A148T|PROM2_uc002sul.3_Missense_Mutation_p.A20T|PROM2_uc002sum.3_Non-coding_Transcript	NM_001165977	NP_653308	Q8N271	PROM2_HUMAN	Homo sapiens prominin 2 (PROM2), transcript variant 2, mRNA.	494						apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						CCTGGTGTTCGCCACCTTCCT	0.642000														57			34		0	0	1	0	0
ANO8	57719	broad.mit.edu	37	19	17441161	17441161	+	Splice_Site	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:17441161C>T	uc002ngf.2	-	9	1305	c.1146_splice	c.e9+1	p.Q382_splice	ANO8_uc010eap.2_Splice_Site	NM_020959	NP_066010	Q9HCE9	ANO8_HUMAN	Homo sapiens anoctamin 8 (ANO8), mRNA.	382	Leu-rich.					chloride channel complex	chloride channel activity			autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3)	27						GGGGGGTCACCTGCAGCTGGA	0.642000														6			8		0	0	1	0	0
SMPD3	55512	broad.mit.edu	37	16	68405102	68405102	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:68405102G>A	uc002ewa.3	-	2	1405	c.983C>T	c.(982-984)tCg>tTg	p.S328L	SMPD3_uc010cfe.3_Missense_Mutation_p.S328L|SMPD3_uc010vlh.2_Missense_Mutation_p.S328L	NM_018667	NP_061137	Q9NY59	NSMA2_HUMAN	Homo sapiens sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II) (SMPD3), mRNA.	328					cell cycle|multicellular organismal development|sphingomyelin catabolic process	Golgi membrane|integral to membrane|plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity			breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	Phosphatidylserine(DB00144)	CTTCACCACCGAGGCCTTGTA	0.682000														19			12		0	0	1	0	0
SLC9A5	6553	broad.mit.edu	37	16	67286472	67286472	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:67286472C>A	uc002esm.3	+	1	278	c.215C>A	c.(214-216)tCt>tAt	p.S72Y	SLC9A5_uc010cee.3_5'UTR|SLC9A5_uc010vji.2_5'UTR	NM_004594	NP_004585	Q14940	SL9A5_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 5 (SLC9A5), mRNA.	72					regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		AAAGTAACATCTCTGGTCCCT	0.517000														143			20		1.9806e-07	2.28575e-07	1	1	0
MPRIP	23164	broad.mit.edu	37	17	17030083	17030083	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:17030083G>A	uc002gqv.2	+	3	424	c.335G>A	c.(334-336)cGc>cAc	p.R112H	MPRIP_uc002gqu.2_Missense_Mutation_p.R112H	NM_015134	NP_055949	Q6WCQ1	MPRIP_HUMAN	Homo sapiens myosin phosphatase Rho interacting protein (MPRIP), transcript variant 1, mRNA.	112	Interaction with F-actin (By similarity).|PH 1.					cytoplasm|cytoskeleton	actin binding	p.R112H(2)		biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						GGGGAGGGCCGCACGGGCCAG	0.597000														57			8		0	0	1	0	0
GALNT6	11226	broad.mit.edu	37	12	51773181	51773181	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:51773181C>T	uc001ryk.2	-	1	610	c.385G>A	c.(385-387)Gag>Aag	p.E129K	GALNT6_uc009zma.1_Non-coding_Transcript|GALNT6_uc001ryl.1_Missense_Mutation_p.E129K|GALNT6_uc010snh.1_Missense_Mutation_p.E129K	NM_007210	NP_009141	Q8NCL4	GALT6_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6) (GALNT6), mRNA.	129					protein O-linked glycosylation	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						TCCTGGGTCTCCAGGGGGGTC	0.587000														46			37		0	0	1	0	0
TULP3	7289	broad.mit.edu	37	12	3047393	3047393	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:3047393C>T	uc001qlj.2	+	9	1218	c.1137C>T	c.(1135-1137)ttC>ttT	p.F379F	TULP3_uc009zec.1_Silent_p.F106F|TULP3_uc010seh.1_Silent_p.F379F|TULP3_uc010sei.1_Silent_p.F203F	NM_001160408	NP_001153880	O75386	TULP3_HUMAN	Homo sapiens tubby like protein 3 (TULP3), transcript variant 2, mRNA.	379					G-protein coupled receptor protein signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|extracellular region|nucleus|plasma membrane	phosphatidylinositol-4,5-bisphosphate binding	p.F379L(1)		endometrium(1)|large_intestine(4)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			TCCTCAACTTCCGTGGCCGGG	0.532000														38			27		0	0	1	0	0
KCNJ11	3767	broad.mit.edu	37	11	17409205	17409205	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:17409205G>T	uc001mna.3	-	0	1002	c.434C>A	c.(433-435)gCc>gAc	p.A145D	KCNJ11_uc001mnb.4_Missense_Mutation_p.A58D	NM_000525	NP_001159762	B4DWI4	B4DWI4_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 11 (KCNJ11), transcript variant 1, mRNA.	58						integral to membrane	ATP-activated inward rectifier potassium channel activity			endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(3)|skin(2)	16				READ - Rectum adenocarcinoma(2;0.0276)|Colorectal(2;0.0633)		GATCAGGATGGCCAGTGGGCA	0.562000											OREG0020810	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		25			3		0.00024832	0.000267289	1	1	0
TREX2	11219	broad.mit.edu	37	X	152710594	152710594	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:152710594G>A	uc022chv.1	-	0	295	c.295C>T	c.(295-297)Cgg>Tgg	p.R99W	TREX2_uc010nud.2_Missense_Mutation_p.R99W|TREX2_uc011myp.2_Missense_Mutation_p.R99W|TREX2_uc010nue.2_Missense_Mutation_p.R141W|HAUS7_uc004fhl.3_Non-coding_Transcript|HAUS7_uc004fhm.3_Non-coding_Transcript	NM_080701	NP_542432	Q9BQ50	TREX2_HUMAN	Homo sapiens three prime repair exonuclease 2 (TREX2), mRNA.	142					DNA repair	nucleus	3'-5'-exodeoxyribonuclease activity|exodeoxyribonuclease III activity|nucleic acid binding			endometrium(4)|large_intestine(2)|lung(3)|ovary(2)	11	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGCAGCGTCCGCACCACGGCG	0.667000								Editing and processing nucleases						12			11		0	0	1	0	0
NISCH	11188	broad.mit.edu	37	3	52492834	52492834	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52492834G>A	uc003ded.4	+	2	468	c.334G>A	c.(334-336)Gcc>Acc	p.A112T	NISCH_uc003dec.1_Missense_Mutation_p.A112T	NM_007184	NP_009115	Q9Y2I1	NISCH_HUMAN	Homo sapiens nischarin (NISCH), mRNA.	112	Necessary for binding to phosphoinositide-3-P; not sufficient for targeting to endosomes.|PX.				apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)		CAGAGTACTGGCCCACTTCTT	0.527000														45			33		0	0	1	0	0
LRRC16A	55604	broad.mit.edu	37	6	25471461	25471461	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:25471461T>C	uc011djw.2	+	9	1123	c.755T>C	c.(754-756)gTg>gCg	p.V252A	LRRC16A_uc010jpy.3_Missense_Mutation_p.V252A|LRRC16A_uc003nez.1_Missense_Mutation_p.V91A	NM_017640	NP_060110	Q5VZK9	LR16A_HUMAN	Homo sapiens leucine rich repeat containing 16A (LRRC16A), transcript variant 1, mRNA.	252					actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						GAAGAATTGGTGTTGGAAAAT	0.363000														47			28		0	0	1	0	0
AKAP6	9472	broad.mit.edu	37	14	33293206	33293206	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:33293206A>G	uc001wrq.3	+	12	6357	c.6187A>G	c.(6187-6189)Atc>Gtc	p.I2063V		NM_004274	NP_004265	Q13023	AKAP6_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 6 (AKAP6), mRNA.	2063	PKA-RII subunit binding domain.				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)		TGTTAAGGAAATCATTGACAT	0.398000														34			27		0	0	1	0	0
IL5RA	3568	broad.mit.edu	37	3	3118281	3118281	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:3118281C>A	uc011ask.2	-	10	1669	c.1025G>T	c.(1024-1026)tGg>tTg	p.W342L	IL5RA_uc010hbq.3_Missense_Mutation_p.W247L|IL5RA_uc010hbr.3_Missense_Mutation_p.W133L|IL5RA_uc010hbs.3_Missense_Mutation_p.W342L|IL5RA_uc011asl.2_Missense_Mutation_p.W342L|IL5RA_uc010hbp.3_Missense_Mutation_p.W53L	NM_000564	NP_783853	Q01344	IL5RA_HUMAN	Homo sapiens interleukin 5 receptor, alpha (IL5RA), transcript variant 1, mRNA.	342					cell proliferation	extracellular space|integral to membrane|plasma membrane	interleukin-5 receptor activity			cervix(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	24				Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944)		AATGACAAACCACTCTCTCAA	0.363000														52			5		0.00116845	0.00123466	1	1	0
GPS2	2874	broad.mit.edu	37	17	7231164	7231164	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7231164C>T	uc002gga.1	-	1	329	c.322G>A	c.(322-324)Gcg>Acg	p.A108T	GPS2_uc002ggb.1_Missense_Mutation_p.A108T|GPS2_uc002ggc.1_5'Flank	NM_032442	NP_115818	Q13227	GPS2_HUMAN	Homo sapiens neuralized homolog 4 (Drosophila) (NEURL4), transcript variant 1, mRNA.	0					JNK cascade|cell cycle|inactivation of MAPK activity|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter	transcriptional repressor complex	GTPase inhibitor activity|protein binding|transcription corepressor activity			breast(1)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(4)	24		Prostate(122;0.157)				GGGTCCAGCGCTGTCACCCCA	0.617000														10			10		0	0	1	0	0
MTIF3	219402	broad.mit.edu	37	13	28009965	28009965	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:28009965T>C	uc001urh.3	-	2	1908	c.684A>G	c.(682-684)caA>caG	p.Q228Q	MTIF3_uc021rhl.1_Silent_p.Q228Q|MTIF3_uc001uri.3_Silent_p.Q228Q|MTIF3_uc021rhm.1_Silent_p.Q228Q|MTIF3_uc001urj.3_Silent_p.Q228Q|MTIF3_uc001urk.3_Silent_p.Q228Q	NM_152912	NP_690876	Q9H2K0	IF3M_HUMAN	Homo sapiens mitochondrial translational initiation factor 3 (MTIF3), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	228					regulation of translational initiation|ribosome disassembly	mitochondrion	ribosomal small subunit binding|translation initiation factor activity			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	7		Lung SC(185;0.0161)	Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.108)|OV - Ovarian serous cystadenocarcinoma(117;0.157)		CTTGAACAGCTTGTGGCCTAG	0.383000														100			13		0	0	1	0	0
MXRA8	54587	broad.mit.edu	37	1	1290239	1290239	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:1290239G>A	uc001aex.4	-	4	803	c.772C>T	c.(772-774)Cgt>Tgt	p.R258C	MXRA8_uc001aew.3_Missense_Mutation_p.R258C|MXRA8_uc001aey.4_Missense_Mutation_p.R258C|MXRA8_uc001aez.3_Missense_Mutation_p.R157C|MXRA8_uc001afa.3_Missense_Mutation_p.R249C	NM_032348	NP_115724	Q9BRK3	MXRA8_HUMAN	Homo sapiens matrix-remodelling associated 8 (MXRA8), mRNA.	258	Ig-like V-type 2.					integral to membrane				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(3)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GGCTCGATACGCAGTGAGAAG	0.677000														8			11		0	0	1	0	0
NBN	4683	broad.mit.edu	37	8	90993001	90993001	+	Silent	SNP	G	A	A	rs137857529	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:90993001G>A	uc003yej.1	-	3	551	c.441C>T	c.(439-441)tgC>tgT	p.C147C	NBN_uc011lgb.1_Silent_p.C147C|NBN_uc003yei.1_Silent_p.C65C	NM_002485	NP_002476	O60934	NBN_HUMAN	Homo sapiens nibrin (NBN), mRNA.	147	BRCT.				DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|cell cycle arrest|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance	Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm	protein N-terminus binding|transcription factor binding			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(11;0.0344)			CAAGGTGAGTGCATTCTTCTG	0.338000								Homologous recombination						74			7		0	0	1	0	0
SPERT	220082	broad.mit.edu	37	13	46287719	46287719	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:46287719C>T	uc001van.1	+	2	639	c.559C>T	c.(559-561)Cgg>Tgg	p.R187W	SPERT_uc001vao.2_Missense_Mutation_p.R151W	NM_152719	NP_689932	Q8NA61	SPERT_HUMAN	Homo sapiens spermatid associated (SPERT), mRNA.	187						cytoplasmic membrane-bounded vesicle				NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	15		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)		CGAGGAGAACCGGATGCTCAG	0.627000														43			12		0	0	1	0	0
USP12	219333	broad.mit.edu	37	13	27649407	27649407	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:27649407G>A	uc001uqy.3	-	6	1110	c.853C>T	c.(853-855)Cgt>Tgt	p.R285C		NM_182488	NP_872294	O75317	UBP12_HUMAN	Homo sapiens ubiquitin specific peptidase 12 (USP12), mRNA.	285					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Lung SC(185;0.0161)		all cancers(112;0.0508)|GBM - Glioblastoma multiforme(144;0.168)|Epithelial(112;0.244)|OV - Ovarian serous cystadenocarcinoma(117;0.246)		TTAAACAGACGAAGTTCTAAA	0.423000														34			16		0	0	1	0	0
KIAA0226L	80183	broad.mit.edu	37	13	46946551	46946551	+	Silent	SNP	G	A	A	rs142745251	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:46946551G>A	uc010acl.3	-	2	665	c.60C>T	c.(58-60)agC>agT	p.S20S	KIAA0226L_uc001vbf.4_Intron|KIAA0226L_uc010tfz.2_Intron|KIAA0226L_uc010acn.3_Intron|KIAA0226L_uc010acm.3_Intron|KIAA0226L_uc001vbe.4_Silent_p.S20S|KIAA0226L_uc001vbh.4_Silent_p.S20S|KIAA0226L_uc001vbi.4_Intron|KIAA0226L_uc010aco.1_Silent_p.S20S	NM_025113	NP_079389	Q9H714	CM018_HUMAN	Homo sapiens KIAA0226-like (KIAA0226L), mRNA.	20										NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1)	26						CAGAGTGATCGCTGATCCCTT	0.507000														5			8		0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21045299	21045299	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:21045299C>T	uc010vbe.2	-	35	5194	c.5194G>A	c.(5194-5196)Gca>Aca	p.A1732T		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	1732	AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GCTTTACCTGCGTGTAAATCG	0.537000														15			15		0	0	1	0	0
MYO5B	4645	broad.mit.edu	37	18	47479645	47479645	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:47479645G>A	uc002leb.2	-	13	2025	c.1737C>T	c.(1735-1737)atC>atT	p.I579I	MYO5B_uc021ukb.1_Silent_p.I578I	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	Homo sapiens myosin VB (MYO5B), mRNA.	579	Myosin head-like.				protein transport	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		TGGCCTTCAGGATATTGATCT	0.537000														26			17		0	0	1	0	0
EHF	26298	broad.mit.edu	37	11	34680413	34680413	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:34680413G>T	uc021qfu.1	+	8	1030	c.904G>T	c.(904-906)Gat>Tat	p.D302Y	EHF_uc001mvr.2_Missense_Mutation_p.D280Y|EHF_uc009yke.2_Missense_Mutation_p.D257Y|EHF_uc009ykf.2_Missense_Mutation_p.D283Y	NM_001206616	NP_001193545	Q9NZC4	EHF_HUMAN	Homo sapiens ets homologous factor (EHF), transcript variant 1, mRNA.	280					cell proliferation|epithelial cell differentiation|multicellular organismal development|positive regulation of transcription, DNA-dependent		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		NFIA/EHF(2)	autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|lung(8)|upper_aerodigestive_tract(1)	17		all_hematologic(20;0.117)	Epithelial(1;0.055)|all cancers(1;0.137)|STAD - Stomach adenocarcinoma(6;0.235)			GGAGCGTGTGGATGGACGAAG	0.408000														56			5		0.248553	0.249802	1	1	0
SLC26A7	115111	broad.mit.edu	37	8	92352738	92352738	+	Nonsense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:92352738G>T	uc003yez.3	+	7	1224	c.985G>T	c.(985-987)Gga>Tga	p.G329*	SLC26A7_uc003yex.3_Nonsense_Mutation_p.G329*|SLC26A7_uc003yey.3_Non-coding_Transcript|SLC26A7_uc003yfa.3_Nonsense_Mutation_p.G329*	NM_134266	NP_599028	Q8TE54	S26A7_HUMAN	Homo sapiens solute carrier family 26, member 7 (SLC26A7), transcript variant 2, mRNA.	329						basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			TCTTGCTCAAGGATCTGCCAA	0.512000														41			11		1.08611e-07	1.25606e-07	1	1	0
ANXA6	309	broad.mit.edu	37	5	150514015	150514015	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:150514015G>A	uc003ltl.2	-	7	747	c.519C>T	c.(517-519)agC>agT	p.S173S	ANXA6_uc011dcp.2_Silent_p.S141S|ANXA6_uc003lto.2_Intron	NM_001155	NP_001180473	P08133	ANXA6_HUMAN	Homo sapiens annexin A6 (ANXA6), transcript variant 1, mRNA.	173						melanosome	calcium ion binding|calcium-dependent phospholipid binding|protein binding			endometrium(2)|kidney(1)|lung(9)	12		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCAGGTCCTCGCTCACTACGT	0.562000														83			59		0	0	1	0	0
C10orf10	11067	broad.mit.edu	37	10	45473040	45473040	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:45473040C>A	uc001jbr.4	-	1	729	c.439G>T	c.(439-441)Gcc>Tcc	p.A147S	RASSF4_uc001jbo.3_Intron|RASSF4_uc001jbp.3_Intron|RASSF4_uc009xmn.3_Intron|RASSF4_uc001jbq.3_Intron|C10orf10_uc021ppn.1_Missense_Mutation_p.A147S	NM_007021	NP_008952	Q9NTK1	DEPP_HUMAN	Homo sapiens chromosome 10 open reading frame 10 (C10orf10), mRNA.	147						mitochondrion				lung(1)	1						CCTCTGGGGGCCCCCATGGGC	0.622000														21			18		2.35188e-11	2.87337e-11	1	1	0
LACE1	246269	broad.mit.edu	37	6	108687461	108687461	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:108687461A>G	uc003psj.3	+	5	859	c.673A>G	c.(673-675)Att>Gtt	p.I225V		NM_145315	NP_660358	Q8WV93	LACE1_HUMAN	Homo sapiens lactation elevated 1 (LACE1), mRNA.	225							ATP binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		all_cancers(87;1.5e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;6.79e-05)|Colorectal(196;0.0294)|all_lung(197;0.0486)|Lung SC(18;0.152)		BRCA - Breast invasive adenocarcinoma(108;0.00179)|Epithelial(106;0.0024)|all cancers(137;0.00379)|OV - Ovarian serous cystadenocarcinoma(136;0.0118)		TGATGCCATGATTCTGAAACA	0.378000														30			3		0	0	1	0	0
ELMOD3	84173	broad.mit.edu	37	2	85617352	85617352	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:85617352C>T	uc010ysn.2	+	10	1249	c.907C>T	c.(907-909)Cgg>Tgg	p.R303W	ELMOD3_uc002spf.4_Missense_Mutation_p.R303W|ELMOD3_uc002spg.4_Missense_Mutation_p.R303W|ELMOD3_uc002sph.4_Missense_Mutation_p.R303W|ELMOD3_uc010yso.2_Non-coding_Transcript|ELMOD3_uc010ysp.2_Non-coding_Transcript|ELMOD3_uc021vjy.1_Missense_Mutation_p.R72W	NM_032213	NP_115589	Q96FG2	ELMD3_HUMAN	Homo sapiens ELMO/CED-12 domain containing 3 (ELMOD3), transcript variant 1, mRNA.	303	ELMO.				phagocytosis	cytoskeleton		p.Q302*(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	12						GAGGACACAGCGGAAGACCAT	0.562000														32			4		0	0	1	0	0
CASZ1	54897	broad.mit.edu	37	1	10699521	10699521	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:10699521C>T	uc001aro.3	-	20	5078	c.4758G>A	c.(4756-4758)tcG>tcA	p.S1586S		NM_001079843	NP_001073312	Q86V15	CASZ1_HUMAN	Homo sapiens castor zinc finger 1 (CASZ1), transcript variant 1, mRNA.	1586					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)		AGTCCATCTGCGACATGCCCA	0.701000														1			4		0	0	1	0	0
SCAF1	58506	broad.mit.edu	37	19	50155744	50155744	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:50155744G>A	uc002poq.3	+	6	2222	c.2098G>A	c.(2098-2100)Gcc>Acc	p.A700T		NM_021228	NP_067051	Q9H7N4	SFR19_HUMAN	Homo sapiens SR-related CTD-associated factor 1 (SCAF1), mRNA.	700	Ser-rich.				RNA splicing|mRNA processing	nucleus	RNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		CGACCTCTTCGCCATCAAGCG	0.701000														11			8		0	0	1	0	0
FAM53B	9679	broad.mit.edu	37	10	126370557	126370557	+	Silent	SNP	G	A	A	rs139649397		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:126370557G>A	uc001lhv.1	-	3	1048	c.525C>T	c.(523-525)aaC>aaT	p.N175N	FAM53B_uc001lhu.1_Silent_p.N175N|FAM53B_uc001lhw.3_Silent_p.N175N	NM_014661	NP_055476	Q14153	FA53B_HUMAN	Homo sapiens family with sequence similarity 53, member B (FAM53B), mRNA.	175										cervix(1)|lung(5)|ovary(2)|pancreas(1)	9		all_lung(145;0.0191)|Lung NSC(174;0.0301)|Colorectal(57;0.106)|all_neural(114;0.117)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.15)		AGGAGAGCACGTTGGCCCGGG	0.647000														41			7		0	0	1	0	0
FIGNL1	63979	broad.mit.edu	37	7	50513423	50513423	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:50513423T>G	uc003tpd.3	-	3	1933	c.1563A>C	c.(1561-1563)aaA>aaC	p.K521N	FIGNL1_uc003tpb.3_Missense_Mutation_p.K410N|FIGNL1_uc003tpc.3_Missense_Mutation_p.K521N|FIGNL1_uc003tpe.3_Missense_Mutation_p.K521N|FIGNL1_uc010kyy.3_Missense_Mutation_p.K521N|FIGNL1_uc022ada.1_Missense_Mutation_p.K521N	NM_022116	NP_071399	Q6PIW4	FIGL1_HUMAN	Homo sapiens fidgetin-like 1 (FIGNL1), transcript variant 2, mRNA.	521					ATP metabolic process|negative regulation of apoptosis|osteoblast differentiation|osteoblast proliferation|regulation of cell cycle	cytoplasm|nucleus	ATP binding|magnesium ion binding|nucleoside-triphosphatase activity			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	29	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)				AAAATTCTGTTTTTATCCTTC	0.403000														60			101		0	0	1	0	0
FUBP3	8939	broad.mit.edu	37	9	133491792	133491792	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:133491792C>A	uc004bzr.1	+	6	563	c.455C>A	c.(454-456)cCt>cAt	p.P152H	FUBP3_uc010mzd.1_Missense_Mutation_p.P92H	NM_003934	NP_003925	Q96I24	FUBP3_HUMAN	Homo sapiens far upstream element (FUSE) binding protein 3 (FUBP3), mRNA.	152					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|RNA binding|protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|urinary_tract(2)	21				OV - Ovarian serous cystadenocarcinoma(145;0.000279)		CGAAATGGACCTGGCTTTCAT	0.498000														37			18		1.99824e-07	2.30332e-07	1	1	0
HENMT1	113802	broad.mit.edu	37	1	109193759	109193759	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:109193759C>A	uc001dvt.4	-	5	709	c.471G>T	c.(469-471)atG>atT	p.M157I	HENMT1_uc001dvu.4_Missense_Mutation_p.M157I|HENMT1_uc009wer.3_Missense_Mutation_p.M157I	NM_001102592	NP_653185	Q5T8I9	HENMT_HUMAN	Homo sapiens HEN1 methyltransferase homolog 1 (Arabidopsis) (HENMT1), transcript variant 2, mRNA.	157					gene silencing by RNA|piRNA metabolic process	P granule	O-methyltransferase activity|RNA binding|RNA methyltransferase activity|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1)	16						TGATGACAATCATGGATGGAG	0.393000														55			78		8.78091e-33	1.16108e-32	1	1	0
HIRA	7290	broad.mit.edu	37	22	19384429	19384429	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:19384429C>A	uc002zpf.1	-	6	755	c.535G>T	c.(535-537)Ggg>Tgg	p.G179W	HIRA_uc011agx.1_Missense_Mutation_p.G45W|HIRA_uc010grn.1_Missense_Mutation_p.G179W|HIRA_uc010gro.2_Missense_Mutation_p.G135W|HIRA_uc010grp.3_Non-coding_Transcript	NM_003325	NP_003316	P54198	HIRA_HUMAN	Homo sapiens HIR histone cell cycle regulation defective homolog A (S. cerevisiae) (HIRA), mRNA.	179					chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					CATGTCAACCCTTTGACCAAG	0.488000														49			7		5.18039e-06	5.80246e-06	1	1	0
POLM	27434	broad.mit.edu	37	7	44113546	44113546	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:44113546C>T	uc003tjt.3	-	8	1242	c.1150G>A	c.(1150-1152)Gct>Act	p.A384T	POLM_uc003tju.3_Missense_Mutation_p.A347T|POLM_uc003tjv.3_Non-coding_Transcript|POLM_uc003tjx.2_Missense_Mutation_p.A304T|POLM_uc011kbt.1_Missense_Mutation_p.A34T	NM_013284	NP_037416	Q9NP87	DPOLM_HUMAN	Homo sapiens polymerase (DNA directed), mu (POLM), mRNA.	384					DNA recombination|DNA repair	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(3)|skin(2)	22						CTCTCAAAAGCGTCCATGTGG	0.632000								DNA polymerases (catalytic subunits)						34			41		0	0	1	0	0
RGAG1	57529	broad.mit.edu	37	X	109694910	109694910	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:109694910C>A	uc004eor.2	+	2	1311	c.1065C>A	c.(1063-1065)ccC>ccA	p.P355P	RGAG1_uc011msr.1_Silent_p.P355P	NM_020769	NP_065820	Q8NET4	RGAG1_HUMAN	Homo sapiens retrotransposon gag domain containing 1 (RGAG1), mRNA.	355								p.P355H(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						CGGCCCTACCCTCTGGAGTGA	0.542000														346			44		1.8453e-21	2.38982e-21	1	1	0
EP300	2033	broad.mit.edu	37	22	41574637	41574637	+	Missense_Mutation	SNP	C	T	T	rs145312648		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:41574637C>T	uc003azl.4	+	30	7317	c.6922C>T	c.(6922-6924)Cgc>Tgc	p.R2308C		NM_001429	NP_001420	Q09472	EP300_HUMAN	Homo sapiens E1A binding protein p300 (EP300), mRNA.	2308					DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|N-terminal peptidyl-lysine acetylation|apoptosis|cell cycle|histone H4 acetylation|interspecies interaction between organisms|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	DNA binding|RNA polymerase II activating transcription factor binding|androgen receptor binding|beta-catenin binding|histone acetyltransferase activity|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						CAATCAAGTGCGCTCTCCCCA	0.612000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome					26			21		0	0	1	0	0
CSTF3	1479	broad.mit.edu	37	11	33118430	33118430	+	Missense_Mutation	SNP	C	T	T	rs11553357	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:33118430C>T	uc001muh.3	-	13	1389	c.1223G>A	c.(1222-1224)cGc>cAc	p.R408H	TCP11L1_uc001muf.1_Intron	NM_001326	NP_001317	Q12996	CSTF3_HUMAN	Homo sapiens cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kDa (CSTF3), transcript variant 1, mRNA.	408					mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	RNA binding|protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|stomach(1)	19						GACATGGTGGCGGGTTCTGGT	0.363000														77			33		0	0	1	0	0
RBBP4	5928	broad.mit.edu	37	1	33133834	33133834	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:33133834G>T	uc001bvr.3	+	3	478	c.319G>T	c.(319-321)Ggt>Tgt	p.G107C	RBBP4_uc001bvs.3_Missense_Mutation_p.G106C|RBBP4_uc010ohj.2_Intron|RBBP4_uc010ohk.2_Missense_Mutation_p.G72C	NM_005610	NP_001128728	Q09028	RBBP4_HUMAN	Homo sapiens retinoblastoma binding protein 4 (RBBP4), transcript variant 1, mRNA.	107					CenH3-containing nucleosome assembly at centromere|DNA replication|cell cycle|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|ESC/E(Z) complex|NURF complex|NuRD complex|Sin3 complex	histone binding|histone deacetylase binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				AGAATTTGGAGGTTTTGGTTC	0.368000														25			9		3.09899e-07	3.55757e-07	1	1	0
HDDC2	51020	broad.mit.edu	37	6	125614012	125614012	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:125614012C>A	uc003qaa.1	-	3	557	c.353G>T	c.(352-354)aGa>aTa	p.R118I	HDDC2_uc003qab.1_Non-coding_Transcript	NM_016063	NP_057147	Q7Z4H3	HDDC2_HUMAN	Homo sapiens HD domain containing 2 (HDDC2), mRNA.	118	HD.						metal ion binding|phosphoric diester hydrolase activity			endometrium(1)|large_intestine(1)|lung(4)	6			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0186)		GAGCTCCTTTCTGAGGTCCTC	0.343000														90			43		3.68337e-26	4.8296e-26	1	1	0
SIGIRR	59307	broad.mit.edu	37	11	408207	408207	+	Splice_Site	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:408207C>A	uc001lpg.3	-	3	360	c.207_splice	c.e3-1	p.W69_splice	SIGIRR_uc001lpd.2_Splice_Site_p.W69_splice|SIGIRR_uc001lpf.2_Splice_Site_p.W69_splice|SIGIRR_uc001lpe.1_Splice_Site_p.W69_splice			Q6IA17	SIGIR_HUMAN	Homo sapiens single immunoglobulin and toll-interleukin 1 receptor (TIR) domain (SIGIRR), transcript variant 3, mRNA.	69	Ig-like C2-type.				acute-phase response|innate immune response|negative regulation of chemokine biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of lipopolysaccharide-mediated signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity	integral to membrane	protein binding|transmembrane receptor activity			cervix(2)|endometrium(1)|liver(1)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	13		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGCCTTGACCCTGGGGATACC	0.612000														56			31		5.43694e-19	6.98762e-19	1	1	0
PDE4D	5144	broad.mit.edu	37	5	58271516	58271516	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:58271516C>T	uc003jsa.2	-	13	2153	c.1981G>A	c.(1981-1983)Gac>Aac	p.D661N	PDE4D_uc003jrx.2_Missense_Mutation_p.D525N|PDE4D_uc003jry.3_Missense_Mutation_p.D359N|PDE4D_uc003jrz.3_Missense_Mutation_p.D597N|PDE4D_uc003jsb.3_Missense_Mutation_p.D600N|PDE4D_uc003jrt.2_Missense_Mutation_p.D359N|PDE4D_uc003jru.3_Missense_Mutation_p.D437N|PDE4D_uc003jrv.2_Missense_Mutation_p.D531N|PDE4D_uc003jrw.2_Missense_Mutation_p.D539N|PDE4D_uc003jrs.2_Missense_Mutation_p.D370N	NM_001104631	NP_001098101	Q08499	PDE4D_HUMAN	Homo sapiens phosphodiesterase 4D, cAMP-specific (PDE4D), transcript variant 1, mRNA.	661					signal transduction	cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Dyphylline(DB00651)	TTGTGCTTGTCACACATGGGG	0.493000														30			3		0	0	1	0	0
SHROOM3	57619	broad.mit.edu	37	4	77700012	77700012	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:77700012C>A	uc011cbx.2	+	10	6626	c.5673C>A	c.(5671-5673)gcC>gcA	p.A1891A	SHROOM3_uc003hkg.3_Silent_p.A1669A	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	Homo sapiens shroom family member 3 (SHROOM3), mRNA.	1891	ASD2.				apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			ATGAGGATGCCCGGGAGCTGA	0.537000														33			11		0.000673444	0.000715966	1	1	0
SOX2	6657	broad.mit.edu	37	3	181430973	181430973	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:181430973C>T	uc003fkx.3	+	0	1262	c.825C>T	c.(823-825)agC>agT	p.S275S	SOX2-OT_uc003fkv.3_Intron|SOX2-OT_uc003fkw.4_Intron	NM_003106	NP_003097	P48431	SOX2_HUMAN	Homo sapiens SRY (sex determining region Y)-box 2 (SOX2), mRNA.	275					cell cycle arrest|chromatin organization|eye development|glial cell fate commitment|inner ear development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell proliferation|negative regulation of neuron differentiation|osteoblast differentiation|pituitary gland development|positive regulation of MAPKKK cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of caspase activity|response to growth factor stimulus|response to wounding|somatic stem cell maintenance	cytosol|transcription factor complex	miRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|skin(1)	10	all_cancers(143;1.22e-16)|Ovarian(172;0.0283)		all cancers(12;1.82e-48)|Epithelial(37;9.85e-40)|OV - Ovarian serous cystadenocarcinoma(80;7.37e-23)|Lung(8;2.01e-21)|GBM - Glioblastoma multiforme(1;2.13e-08)			ACATGATCAGCATGTATCTCC	0.692000			A		"""NSCLC, oesophageal squamous carcinoma"""		MICROPHTHALMIA AND ESOPHAGEAL ATRESIA SYNDROME							37			6		0	0	1	0	0
CHD1	1105	broad.mit.edu	37	5	98193992	98193992	+	Missense_Mutation	SNP	C	T	T	rs72775611	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:98193992C>T	uc003knf.3	-	33	4827	c.4679G>A	c.(4678-4680)cGa>cAa	p.R1560Q	CHD1_uc010jbn.3_Missense_Mutation_p.R286Q	NM_001270	NP_001261	O14646	CHD1_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 1 (CHD1), mRNA.	1560					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	TCCCTGATGTCGGTCTTTATG	0.378000														142			83		0	0	1	0	0
GRAMD1B	57476	broad.mit.edu	37	11	123465527	123465527	+	Missense_Mutation	SNP	T	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:123465527T>A	uc001pyw.2	+	5	775	c.446T>A	c.(445-447)aTc>aAc	p.I149N	GRAMD1B_uc001pyx.2_Missense_Mutation_p.I142N|GRAMD1B_uc010rzw.2_Missense_Mutation_p.I102N|GRAMD1B_uc010rzx.1_Missense_Mutation_p.I102N|GRAMD1B_uc009zbe.1_Missense_Mutation_p.I138N	NM_020716	NP_065767	Q3KR37	GRM1B_HUMAN	Homo sapiens GRAM domain containing 1B (GRAMD1B), mRNA.	142	GRAM.					integral to membrane				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)		TACAGCAACATCTTCCGCTGG	0.517000														38			15		0	0	1	0	0
PDZRN3	23024	broad.mit.edu	37	3	73433282	73433282	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:73433282G>A	uc003dpl.1	-	9	2531	c.2435C>T	c.(2434-2436)aCg>aTg	p.T812M	PDZRN3_uc011bgh.1_Missense_Mutation_p.T469M|PDZRN3_uc010hoe.1_Missense_Mutation_p.T510M|PDZRN3_uc021xaq.1_Missense_Mutation_p.T105M|PDZRN3_uc011bgf.1_Missense_Mutation_p.T529M|PDZRN3_uc011bgg.1_Missense_Mutation_p.T532M	NM_015009	NP_055824	Q9UPQ7	PZRN3_HUMAN	Homo sapiens PDZ domain containing ring finger 3 (PDZRN3), mRNA.	812							ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		GGGATCTTCCGTGATGGAGAG	0.647000														55			10		0	0	1	0	0
FZD9	8326	broad.mit.edu	37	7	72849436	72849436	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:72849436G>A	uc003tyb.3	+	0	1328	c.1099G>A	c.(1099-1101)Gcg>Acg	p.A367T		NM_003508	NP_003499	O00144	FZD9_HUMAN	Homo sapiens frizzled family receptor 9 (FZD9), mRNA.	367					B cell differentiation|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|neuroblast proliferation|vasculature development	cell surface|filopodium membrane|integral to membrane|perinuclear region of cytoplasm	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	14		Lung NSC(55;0.0659)|all_lung(88;0.152)				GGGCCTGCCCGCGCTCAAGAC	0.657000														38			11		0	0	1	0	0
TUBB6	84617	broad.mit.edu	37	18	12325589	12325589	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:12325589G>A	uc002kqw.3	+	3	836	c.801G>A	c.(799-801)atG>atA	p.M267I	TUBB6_uc002kqv.3_Missense_Mutation_p.M195I|TUBB6_uc010dld.3_Non-coding_Transcript|TUBB6_uc002kqy.3_Intron	NM_032525	NP_115914	Q9BUF5	TBB6_HUMAN	Homo sapiens tubulin, beta 6 class V (TUBB6), mRNA.	267					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)	14				READ - Rectum adenocarcinoma(1;0.0649)		ACTTCTTCATGCCTGGCTTCG	0.672000														18			10		0	0	1	0	0
VLDLR	7436	broad.mit.edu	37	9	2645695	2645695	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:2645695T>C	uc003zhk.1	+	9	1831	c.1434T>C	c.(1432-1434)atT>atC	p.I478I	VLDLR_uc003zhl.1_Silent_p.I478I|VLDLR_uc003zhm.1_Non-coding_Transcript	NM_003383	NP_003374	P98155	VLDLR_HUMAN	Homo sapiens very low density lipoprotein receptor (VLDLR), transcript variant 1, mRNA.	478					cholesterol metabolic process|endocytosis|lipid transport|memory|very-low-density lipoprotein particle clearance	coated pit|integral to membrane|membrane fraction|plasma membrane|very-low-density lipoprotein particle	apolipoprotein binding|calcium ion binding|low-density lipoprotein receptor activity|very-low-density lipoprotein particle receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)		ATGCTGACATTGCTGCCCAGA	0.423000														140			59		0	0	1	0	0
CEL	1056	broad.mit.edu	37	9	135945982	135945982	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:135945982G>A	uc010naa.1	+	9	1446	c.1430G>A	c.(1429-1431)cGg>cAg	p.R477Q		NM_001807	NP_001798	P19835	CEL_HUMAN	Homo sapiens carboxyl ester lipase (bile salt-stimulated lipase) (CEL), mRNA.	474					cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		ACGGGCTACCGGCCCCAAGAC	0.607000														101			8		0	0	1	0	0
KIAA0317	9870	broad.mit.edu	37	14	75139581	75139581	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:75139581G>A	uc001xqb.3	-	10	1880	c.1375C>T	c.(1375-1377)Cat>Tat	p.H459Y	KIAA0317_uc010tut.1_Missense_Mutation_p.H298Y	NM_001039479	NP_001034568	O15033	K0317_HUMAN	Homo sapiens KIAA0317 (KIAA0317), mRNA.	459					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	integral to membrane|intracellular	ubiquitin-protein ligase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25				BRCA - Breast invasive adenocarcinoma(234;0.00404)		ACTTTGGAATGTGGTCTTTTC	0.448000														137			10		0	0	1	0	0
DRD3	1814	broad.mit.edu	37	3	113890729	113890729	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:113890729G>A	uc003ebd.2	-	2	534	c.111C>T	c.(109-111)tgC>tgT	p.C37C	DRD3_uc010hqn.1_Silent_p.C37C|DRD3_uc003ebb.1_Silent_p.C37C|DRD3_uc003ebc.1_Silent_p.C37C	NM_000796	NP_000787	P35462	DRD3_HUMAN	Homo sapiens dopamine receptor D3 (DRD3), transcript variant a, mRNA.	37					G-protein coupled receptor internalization|activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning	integral to plasma membrane	dopamine D3 receptor activity|drug binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36					Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246)	GGATGAGCGCGCAGTAGGAGA	0.612000														18			18		0	0	1	0	0
HP	3240	broad.mit.edu	37	16	72090136	72090136	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:72090136A>G	uc002fbr.4	+	1	126	c.82A>G	c.(82-84)Atc>Gtc	p.I28V	TXNL4B_uc010cgl.2_Intron|HP_uc010cgm.3_Missense_Mutation_p.I28V|HP_uc021tld.1_Missense_Mutation_p.I28V|HP_uc002fbt.4_Missense_Mutation_p.I28V	NM_005143	NP_005134	P00738	HPT_HUMAN	Homo sapiens haptoglobin (HP), transcript variant 1, mRNA.	28					cellular iron ion homeostasis|defense response|negative regulation of hydrogen peroxide catabolic process|negative regulation of oxidoreductase activity|positive regulation of cell death|proteolysis|response to hydrogen peroxide	extracellular region|haptoglobin-hemoglobin complex	hemoglobin binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|urinary_tract(1)	7		Renal(780;9.67e-05)|Ovarian(137;0.00327)|Hepatocellular(780;0.114)		BRCA - Breast invasive adenocarcinoma(221;0.00015)|Kidney(780;0.000529)		TGTCACGGATATCGCAGGTCA	0.552000														41			31		0	0	1	0	0
FRMD7	90167	broad.mit.edu	37	X	131228096	131228096	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:131228096G>A	uc004ewn.3	-	4	534	c.356C>T	c.(355-357)gCg>gTg	p.A119V	FRMD7_uc022cdy.1_5'UTR|FRMD7_uc011muy.2_Missense_Mutation_p.A104V	NM_194277	NP_919253	Q6ZUT3	FRMD7_HUMAN	Homo sapiens FERM domain containing 7 (FRMD7), mRNA.	119	FERM.				regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					TACCATCAACGCTGTACAGTT	0.443000														120			76		0	0	1	0	0
ITPRIPL2	162073	broad.mit.edu	37	16	19126751	19126751	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:19126751C>T	uc002dfu.4	+	0	1498	c.968C>T	c.(967-969)gCg>gTg	p.A323V	ITPRIPL2_uc002dft.3_Missense_Mutation_p.A19V	NM_001034841	NP_001030013	Q3MIP1	IPIL2_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor interacting protein-like 2 (ITPRIPL2), transcript variant 1, mRNA.	323						integral to membrane				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						TTCCTTGTGGCGCCACCACCG	0.662000														22			15		0	0	1	0	0
LARGE	9215	broad.mit.edu	37	22	34046551	34046551	+	Silent	SNP	G	A	A	rs145048151	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:34046551G>A	uc003and.4	-	3	789	c.210C>T	c.(208-210)cgC>cgT	p.R70R	LARGE_uc003ane.4_Silent_p.R70R|LARGE_uc010gwp.3_Silent_p.R70R|LARGE_uc011ame.2_Silent_p.R2R|LARGE_uc011amf.2_Silent_p.R70R	NM_004737	NP_598397	O95461	LARGE_HUMAN	Homo sapiens like-glycosyltransferase (LARGE), transcript variant 1, mRNA.	70					N-acetylglucosamine metabolic process|glycosphingolipid biosynthetic process|muscle cell homeostasis|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity	p.R70P(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				CCTCCACCTCGCGCATGCGCA	0.692000														56			7		0	0	1	0	0
RABEP2	79874	broad.mit.edu	37	16	28925758	28925758	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:28925758G>A	uc002drq.3	-	4	741	c.693C>T	c.(691-693)agC>agT	p.S231S	NPIPL1_uc010vct.2_Intron|RABEP2_uc010vdf.2_Silent_p.S160S|RABEP2_uc010byn.3_Silent_p.S231S|RABEP2_uc002drr.3_Silent_p.S231S	NM_024816	NP_079092	Q9H5N1	RABE2_HUMAN	Homo sapiens rabaptin, RAB GTPase binding effector protein 2 (RABEP2), mRNA.	231					endocytosis|protein transport	early endosome	GTPase activator activity|growth factor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	16						AGATGGAGGCGCTGTCATCGC	0.682000														21			15		0	0	1	0	0
MARCH7	64844	broad.mit.edu	37	2	160605353	160605353	+	Missense_Mutation	SNP	A	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:160605353A>T	uc002uax.3	+	4	1674	c.1552A>T	c.(1552-1554)Agt>Tgt	p.S518C	MARCH7_uc010foq.3_Missense_Mutation_p.S518C|MARCH7_uc010zcn.2_Missense_Mutation_p.S462C|MARCH7_uc010for.3_Missense_Mutation_p.S480C|MARCH7_uc002uay.3_Non-coding_Transcript	NM_022826	NP_073737	Q9H992	MARH7_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 7 (MARCH7), mRNA.	518							ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2)	18						TGATGGTAAAAGTGATAAAAC	0.383000														98			60		0	0	1	0	0
BGN	633	broad.mit.edu	37	X	152770099	152770099	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:152770099C>A	uc004fhr.2	+	1	246	c.10C>A	c.(10-12)Ctg>Atg	p.L4M		NM_001711	NP_001702	P21810	PGS1_HUMAN	Homo sapiens biglycan (BGN), mRNA.	4						proteinaceous extracellular matrix|transport vesicle	extracellular matrix structural constituent			breast(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CATGTGGCCCCTGTGGCGCCT	0.632000														31			4		0.00024832	0.000267289	1	1	0
GSTZ1	2954	broad.mit.edu	37	14	77795519	77795519	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:77795519G>T	uc001xtj.3	+	5	678	c.396G>T	c.(394-396)caG>caT	p.Q132H	GSTZ1_uc001xtk.3_Missense_Mutation_p.Q90H|GSTZ1_uc010ass.3_Missense_Mutation_p.Q77H|GSTZ1_uc001xtm.3_Missense_Mutation_p.Q77H	NM_145870	NP_001504	O43708	MAAI_HUMAN	Homo sapiens glutathione transferase zeta 1 (GSTZ1), transcript variant 1, mRNA.	132	GST C-terminal.				L-phenylalanine catabolic process|glutathione metabolic process|tyrosine catabolic process	cytosol|mitochondrion	glutathione peroxidase activity|glutathione transferase activity|maleylacetoacetate isomerase activity|protein homodimerization activity	p.Q77H(1)|p.Q132H(1)		lung(2)|prostate(1)	3			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)	Glutathione(DB00143)	CCTGGGCCCAGAACGCCATCA	0.582000														42			14		1.15088e-07	1.32926e-07	1	1	0
PCBD1	5092	broad.mit.edu	37	10	72644921	72644921	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:72644921G>A	uc001jrn.1	-	2	455	c.204C>T	c.(202-204)aaC>aaT	p.N68N		NM_000281	NP_000272	P61457	PHS_HUMAN	Homo sapiens pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha (PCBD1), mRNA.	68					L-phenylalanine catabolic process|regulation of transcription, DNA-dependent|tetrahydrobiopterin biosynthetic process|transcription, DNA-dependent	cytosol|nucleus	4-alpha-hydroxytetrahydrobiopterin dehydratase activity|identical protein binding|transcription coactivator activity			breast(1)|endometrium(2)|large_intestine(1)	4						TGTTGTACACGTTAAACCATT	0.488000														44			24		0	0	1	0	0
CEP85	64793	broad.mit.edu	37	1	26582026	26582026	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:26582026G>A	uc001bls.1	+	3	704	c.573G>A	c.(571-573)tcG>tcA	p.S191S	CEP85_uc001blr.3_Silent_p.S191S|CEP85_uc010ofa.1_Silent_p.S140S	NM_022778	NP_073615	Q6P2H3	CEP85_HUMAN	Homo sapiens centrosomal protein 85kDa (CEP85), mRNA.	191						centrosome|nucleolus|spindle pole				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(11)|skin(2)	25						TCAATCAGTCGGCAATGATGG	0.488000														47			28		0	0	1	0	0
FAM126B	285172	broad.mit.edu	37	2	201846100	201846100	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:201846100G>A	uc002uws.4	-	11	1674	c.1486C>T	c.(1486-1488)Cgg>Tgg	p.R496W	FAM126B_uc002uwu.3_Missense_Mutation_p.R470W|FAM126B_uc002uwv.3_Missense_Mutation_p.R496W	NM_173822	NP_776183	Q8IXS8	F126B_HUMAN	Homo sapiens family with sequence similarity 126, member B (FAM126B), mRNA.	496						intracellular				endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						TGACCTAGCCGGTCTTCCTGC	0.512000														21			18		0	0	1	0	0
EIF2AK1	27102	broad.mit.edu	37	7	6078266	6078266	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:6078266G>A	uc003spp.3	-	9	1302	c.1156C>T	c.(1156-1158)Ctg>Ttg	p.L386L	EIF2AK1_uc003spq.3_Silent_p.L385L|EIF2AK1_uc011jwm.1_Silent_p.L262L	NM_014413	NP_055228	Q9BQI3	E2AK1_HUMAN	Homo sapiens eukaryotic translation initiation factor 2-alpha kinase 1 (EIF2AK1), transcript variant 1, mRNA.	386	Protein kinase.				negative regulation of hemoglobin biosynthetic process|negative regulation of translational initiation by iron|protein autophosphorylation|response to external stimulus|response to stress	cytoplasm	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|heme binding|protein homodimerization activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	27		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14)		AGCTCACACAGCTGCATCTGG	0.547000														78			31		0	0	1	0	0
PTPN9	5780	broad.mit.edu	37	15	75761231	75761231	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:75761231C>A	uc002bal.3	-	12	2169	c.1661G>T	c.(1660-1662)aGg>aTg	p.R554M		NM_002833	NP_002824	P43378	PTN9_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 9 (PTPN9), mRNA.	554	Tyrosine-protein phosphatase.					cytoplasmic part	non-membrane spanning protein tyrosine phosphatase activity|protein binding			central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GCTGAAGGCCCTCTGGGTCCT	0.552000														42			7		8.12818e-05	8.84769e-05	1	1	0
C2orf84	653140	broad.mit.edu	37	2	24406370	24406370	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:24406370G>A	uc002rfc.3	+	4	343	c.257G>A	c.(256-258)cGa>cAa	p.R86Q	C2orf84_uc010eyc.3_Non-coding_Transcript	NM_001040710	NP_001035800	Q86W67	CB084_HUMAN	Homo sapiens chromosome 2 open reading frame 84 (C2orf84), mRNA.	86								p.R86*(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|pancreas(1)|stomach(1)	9						GTAGGAAAACGACATTCCATA	0.418000														18			10		0	0	1	0	0
REC8	9985	broad.mit.edu	37	14	24649283	24649283	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:24649283G>A	uc001wmr.3	+	19	2050	c.1623G>A	c.(1621-1623)ccG>ccA	p.P541P	REC8_uc001wms.3_Silent_p.P541P	NM_005132	NP_005123	O95072	REC8_HUMAN	Homo sapiens REC8 homolog (yeast) (REC8), transcript variant 1, mRNA.	542					mitotic metaphase/anaphase transition|mitotic prometaphase|reciprocal meiotic recombination|sister chromatid cohesion	nucleoplasm				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(265;0.00839)		TGATCCAGCCGGGGCCCAGAT	0.557000														49			26		0	0	1	0	0
KLHL4	56062	broad.mit.edu	37	X	86890607	86890607	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:86890607C>T	uc004efa.2	+	8	1939	c.1757C>T	c.(1756-1758)tCa>tTa	p.S586L	KLHL4_uc004efb.2_Missense_Mutation_p.S586L	NM_057162	NP_476503	Q9C0H6	KLHL4_HUMAN	Homo sapiens kelch-like 4 (Drosophila) (KLHL4), transcript variant 2, mRNA.	586						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						TGCCTCAAATCAATGGAATAC	0.398000														23			17		0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100682290	100682290	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100682290G>T	uc003uxp.1	+	2	7646	c.7593G>T	c.(7591-7593)gaG>gaT	p.E2531D	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	2531	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)					CCAGTCCTGAGGCTAGCACCC	0.488000														358			22		2.89027e-11	3.52362e-11	1	1	0
PIM2	11040	broad.mit.edu	37	X	48772384	48772384	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:48772384G>T	uc004dls.3	-	3	810	c.508C>A	c.(508-510)Ctg>Atg	p.L170M		NM_006875	NP_006866	Q9P1W9	PIM2_HUMAN	Homo sapiens pim-2 oncogene (PIM2), mRNA.	170	Protein kinase.				anti-apoptosis|cell proliferation|male meiosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of autophagy|response to virus		ATP binding|protein serine/threonine kinase activity			lung(3)|stomach(1)	4						AGGTCTATCAGGATGTTCTCA	0.517000														42			4		0.184627	0.186034	1	1	0
ALPK3	57538	broad.mit.edu	37	15	85400565	85400565	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:85400565A>G	uc002ble.3	+	5	3369	c.3202A>G	c.(3202-3204)Acg>Gcg	p.T1068A		NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	Homo sapiens alpha-kinase 3 (ALPK3), mRNA.	1068					heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GGAGGTACCCACGATGCCTTC	0.652000														24			6		0	0	1	0	0
CTAG2	30848	broad.mit.edu	37	X	153881751	153881751	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153881751G>A	uc004fmi.2	-	0	103	c.39C>T	c.(37-39)ggC>ggT	p.G13G	CTAG2_uc004fmh.2_Silent_p.G13G	NM_020994	NP_066274	O75638	CTAG2_HUMAN	Homo sapiens cancer/testis antigen 2 (CTAG2), transcript variant 2, mRNA.	13	Gly-rich.					centrosome				central_nervous_system(1)|endometrium(1)|lung(6)|ovary(1)|pancreas(1)	10	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CATCAGCATCGCCCGTCGAAC	0.716000														8			7		0	0	1	0	0
DYNC2H1	79659	broad.mit.edu	37	11	103026221	103026221	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:103026221C>T	uc001phn.1	+	24	3879	c.3735C>T	c.(3733-3735)gcC>gcT	p.A1245A	DYNC2H1_uc009yxe.1_Intron|DYNC2H1_uc001pho.2_Silent_p.A1245A	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	Homo sapiens dynein, cytoplasmic 2, heavy chain 1 (DYNC2H1), transcript variant 2, mRNA.	1245	Stem (By similarity).				Golgi organization|cell projection organization|microtubule-based movement|multicellular organismal development	Golgi apparatus|cilium axoneme|dynein complex|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		CCAAAGCTGCCGACCTTAAAG	0.348000														17			14		0	0	1	0	0
NPSR1	387129	broad.mit.edu	37	7	34888157	34888157	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:34888157C>T	uc003teh.1	+	7	1035	c.907C>T	c.(907-909)Cca>Tca	p.P303S	NPSR1-AS1_uc010kwq.2_Intron|NPSR1-AS1_uc011kaq.1_Intron|NPSR1_uc003teg.1_Missense_Mutation_p.P303S|NPSR1_uc010kwt.1_Missense_Mutation_p.P150S|NPSR1_uc010kwu.1_Missense_Mutation_p.P93S|NPSR1_uc010kwv.1_Missense_Mutation_p.P237S|NPSR1_uc003tei.1_Missense_Mutation_p.P303S|NPSR1_uc010kww.1_Missense_Mutation_p.P292S|NPSR1_uc011kar.1_Missense_Mutation_p.P237S	NM_207173	NP_997056	Q6W5P4	NPSR1_HUMAN	Homo sapiens neuropeptide S receptor 1 (NPSR1), transcript variant 2, mRNA.	303						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	CAACCTCCTTCCAGACACCCA	0.493000														253			101		0	0	1	0	0
RBM25	58517	broad.mit.edu	37	14	73578420	73578420	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:73578420G>A	uc010ttu.2	+	16	2478	c.2202G>A	c.(2200-2202)aaG>aaA	p.K734K	RBM25_uc001xno.3_Silent_p.K734K|RBM25_uc001xnp.3_Silent_p.K529K	NM_021239	NP_067062	P49756	RBM25_HUMAN	Homo sapiens RNA binding motif protein 25 (RBM25), mRNA.	734					RNA splicing|apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nuclear speck	mRNA binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		CTGAAGAAAAGCGTAAACACA	0.423000														71			43		0	0	1	0	0
PPAP2A	8611	broad.mit.edu	37	5	54763817	54763817	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:54763817C>T	uc003jpz.3	-	2	790	c.374G>A	c.(373-375)gGc>gAc	p.G125D	PPAP2A_uc003jqa.3_Missense_Mutation_p.G124D|PPAP2A_uc003jqb.3_Non-coding_Transcript	NM_176895	NP_795714	O14494	LPP1_HUMAN	Homo sapiens phosphatidic acid phosphatase type 2A (PPAP2A), transcript variant 2, mRNA.	124					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|androgen receptor signaling pathway|germ cell migration|negative regulation of cell proliferation|phospholipid dephosphorylation|regulation of lipid metabolic process|sphingolipid metabolic process	integral to plasma membrane|membrane fraction	phosphatidate phosphatase activity|sphingosine-1-phosphate phosphatase activity			breast(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	9		Lung NSC(810;4.08e-05)|Prostate(74;0.0181)|Breast(144;0.0544)				CCGCAGTCTGCCTATTGAATA	0.423000														51			46		0	0	1	0	0
MYH7B	57644	broad.mit.edu	37	20	33568531	33568531	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:33568531C>A	uc002xbi.2	+	7	936	c.619C>A	c.(619-621)Ctg>Atg	p.L207M	MYH7B_uc010gfa.1_Missense_Mutation_p.L165M	NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	Homo sapiens myosin, heavy chain 7B, cardiac muscle, beta (MYH7B), mRNA.	165	Myosin head-like.					membrane|myosin filament	ATP binding|actin binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			CAACGACATGCTGCGCAGTAA	0.642000														25			13		0.000308642	0.000331285	1	1	0
USP8	9101	broad.mit.edu	37	15	50784986	50784986	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:50784986G>A	uc001zym.4	+	15	2823	c.2323G>A	c.(2323-2325)Gct>Act	p.A775T	USP8_uc001zyl.4_Missense_Mutation_p.A775T|USP8_uc001zyn.4_Missense_Mutation_p.A775T|USP8_uc010ufh.2_Missense_Mutation_p.A669T|AX746640_uc001zyo.1_Non-coding_Transcript|USP8_uc001zyp.4_5'Flank	NM_001128611	NP_005145	P40818	UBP8_HUMAN	Homo sapiens ubiquitin specific peptidase 8 (USP8), transcript variant 3, mRNA.	775					cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	SH3 domain binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		TTCTGGACCAGCTCTTACTGG	0.413000														107			8		0	0	1	0	0
TAB2	23118	broad.mit.edu	37	6	149699899	149699899	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:149699899T>G	uc003qmj.3	+	2	1026	c.848T>G	c.(847-849)gTc>gGc	p.V283G	TAB2_uc011eec.2_Missense_Mutation_p.V251G|TAB2_uc010kia.1_Missense_Mutation_p.V283G|TAB2_uc010kib.2_Missense_Mutation_p.V283G|TAB2_uc003qmk.4_Non-coding_Transcript	NM_015093	NP_055908	Q9NYJ8	TAB2_HUMAN	Homo sapiens TGF-beta activated kinase 1/MAP3K7 binding protein 2 (TAB2), mRNA.	283					I-kappaB kinase/NF-kappaB cascade|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T cell receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|heart development|innate immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	K63-linked polyubiquitin binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	22						ACCTCTCATGTCTACATGCCA	0.468000														77			10		0	0	1	0	0
IRF7	3665	broad.mit.edu	37	11	613580	613580	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:613580G>A	uc001lqg.3	-	6	1312	c.902C>T	c.(901-903)gCg>gTg	p.A301V	IRF7_uc009ycb.3_Missense_Mutation_p.A182V|IRF7_uc010qwf.2_Missense_Mutation_p.A287V|IRF7_uc001lqf.3_5'UTR|IRF7_uc010qwg.2_5'UTR|IRF7_uc001lqh.3_Missense_Mutation_p.A288V|IRF7_uc001lqi.3_Missense_Mutation_p.A259V|IRF7_uc010qwh.2_5'UTR	NM_004031	NP_004022	Q92985	IRF7_HUMAN	Homo sapiens interferon regulatory factor 7 (IRF7), transcript variant d, mRNA.	288					MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of interferon-alpha production|positive regulation of transcription from RNA polymerase II promoter|response to virus|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|endosome membrane|nucleoplasm|plasma membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;7.68e-28)|Epithelial(43;7.44e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;6.96e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CACGTCCAGCGCCCCTGGGCT	0.667000														7			9		0	0	1	0	0
NFIX	4784	broad.mit.edu	37	19	13184238	13184238	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:13184238C>T	uc010xmx.2	+	3	702	c.649C>T	c.(649-651)Cac>Tac	p.H217Y	NFIX_uc002mwd.3_Missense_Mutation_p.H209Y|NFIX_uc002mwe.3_Missense_Mutation_p.H201Y|NFIX_uc002mwf.3_Missense_Mutation_p.H212Y|NFIX_uc002mwg.2_Missense_Mutation_p.H208Y			Q14938	NFIX_HUMAN	Homo sapiens nuclear factor I/X (CCAAT-binding transcription factor) (NFIX), mRNA.	209					DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(19;8.2e-22)			CTCTTCAGGGCACTTAAGTTT	0.532000														30			14		0	0	1	0	0
JAG1	182	broad.mit.edu	37	20	10639258	10639258	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:10639258G>A	uc002wnw.2	-	3	1068	c.552C>T	c.(550-552)cgC>cgT	p.R184R		NM_000214	NP_000205	P78504	JAG1_HUMAN	Homo sapiens jagged 1 (JAG1), mRNA.	184			R -> C (in ALGS1).|R -> G (in ALGS1).|R -> H (in ALGS1).|R -> L (in ALGS1).		Notch receptor processing|Notch signaling pathway|angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	Notch binding|calcium ion binding|growth factor activity|structural molecule activity			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						CACAGGTCACGCGGATCTGAT	0.522000									Alagille Syndrome					47			30		0	0	1	0	0
TNPO1	3842	broad.mit.edu	37	5	72171523	72171523	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:72171523C>T	uc003kck.4	+	7	907	c.760C>T	c.(760-762)Cga>Tga	p.R254*	TNPO1_uc011csi.1_Non-coding_Transcript|TNPO1_uc011csj.1_Nonsense_Mutation_p.R204*|TNPO1_uc003kci.4_Nonsense_Mutation_p.R246*|TNPO1_uc003kcg.4_Nonsense_Mutation_p.R246*|MIR4804_uc021yal.1_5'Flank	NM_002270	NP_694858	Q92973	TNPO1_HUMAN	Homo sapiens transportin 1 (TNPO1), transcript variant 1, mRNA.	254					interspecies interaction between organisms|mRNA metabolic process|protein import into nucleus, translocation	cytosol|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(6)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	36		Lung NSC(167;0.0053)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)		GCTCGAAGTTCGAATGGATCG	0.408000														51			36		0	0	1	0	0
SLC12A2	6558	broad.mit.edu	37	5	127466827	127466827	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:127466827G>A	uc003kus.3	+	4	1281	c.1117G>A	c.(1117-1119)Gcc>Acc	p.A373T	SLC12A2_uc010jdf.3_Non-coding_Transcript|SLC12A2_uc010jdg.3_Missense_Mutation_p.A373T	NM_001046	NP_001037	P55011	S12A2_HUMAN	Homo sapiens solute carrier family 12 (sodium/potassium/chloride transporters), member 2 (SLC12A2), transcript variant 1, mRNA.	373					potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity			breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	TCTAATCTTCGCCTTTGCCAA	0.398000														98			60		0	0	1	0	0
ANP32D	23519	broad.mit.edu	37	12	48866754	48866754	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:48866754C>A	uc010slt.2	+	0	307	c.307C>A	c.(307-309)Ctc>Atc	p.L103I		NM_012404	NP_036536	O95626	AN32D_HUMAN	Homo sapiens acidic (leucine-rich) nuclear phosphoprotein 32 family, member D (ANP32D), mRNA.	103										central_nervous_system(1)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	9						AATTAAAGACCTCAGCACAAT	0.408000														37			27		9.90768e-06	1.10578e-05	1	1	0
EP300	2033	broad.mit.edu	37	22	41566461	41566461	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:41566461T>C	uc003azl.4	+	26	4733	c.4338T>C	c.(4336-4338)taT>taC	p.Y1446Y		NM_001429	NP_001420	Q09472	EP300_HUMAN	Homo sapiens E1A binding protein p300 (EP300), mRNA.	1446					DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|N-terminal peptidyl-lysine acetylation|apoptosis|cell cycle|histone H4 acetylation|interspecies interaction between organisms|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	DNA binding|RNA polymerase II activating transcription factor binding|androgen receptor binding|beta-catenin binding|histone acetyltransferase activity|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						GAGATGATTATATCTTCCATT	0.413000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome					98			5		0	0	1	0	0
ARID4A	5926	broad.mit.edu	37	14	58831083	58831083	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:58831083A>G	uc001xdp.3	+	19	2530	c.2276A>G	c.(2275-2277)aAg>aGg	p.K759R	ARID4A_uc001xdo.3_Missense_Mutation_p.K759R|ARID4A_uc001xdq.3_Missense_Mutation_p.K759R|ARID4A_uc010apg.1_Missense_Mutation_p.K437R	NM_002892	NP_002883	P29374	ARI4A_HUMAN	Homo sapiens AT rich interactive domain 4A (RBP1-like) (ARID4A), transcript variant 1, mRNA.	759					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						GAAACCCTGAAGTTAGAAGTT	0.318000														65			6		0	0	1	0	0
TRIP12	9320	broad.mit.edu	37	2	230656709	230656709	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:230656709A>G	uc002vpx.1	-	28	4316	c.4207T>C	c.(4207-4209)Tat>Cat	p.Y1403H	TRIP12_uc021vxw.1_Missense_Mutation_p.Y1388H|TRIP12_uc002vpy.1_Missense_Mutation_p.Y1085H|TRIP12_uc002vpw.1_Missense_Mutation_p.Y1355H	NM_004238	NP_004229	Q14669	TRIPC_HUMAN	Homo sapiens thyroid hormone receptor interactor 12 (TRIP12), mRNA.	1355					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity	p.R1402K(1)		breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		GTCATGTTATACGGCAGCAAA	0.423000														71			60		0	0	1	0	0
PTCHD2	57540	broad.mit.edu	37	1	11575545	11575545	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:11575545G>A	uc001ash.4	+	4	1711	c.1573G>A	c.(1573-1575)Gtg>Atg	p.V525M	PTCHD2_uc001asi.1_Missense_Mutation_p.V525M	NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN	Homo sapiens patched domain containing 2 (PTCHD2), mRNA.	525	SSD.				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		GGCCGCCTTCGTGATCGTGGG	0.587000														30			18		0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152279721	152279721	+	Silent	SNP	C	T	T	rs12081090	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:152279721C>T	uc001ezu.1	-	2	7677	c.7641G>A	c.(7639-7641)tcG>tcA	p.S2547S		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	2547	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.S2547*(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGCCCACCTGCGAGTGTCCAG	0.582000									Ichthyosis					172			104		0	0	1	0	0
MCTP2	55784	broad.mit.edu	37	15	94841867	94841867	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:94841867G>A	uc002btj.3	+	0	438	c.373G>A	c.(373-375)Gcc>Acc	p.A125T	MCTP2_uc010urg.1_Missense_Mutation_p.A125T|MCTP2_uc002bti.2_Missense_Mutation_p.A125T|MCTP2_uc010boj.3_5'UTR|MCTP2_uc010bok.3_Missense_Mutation_p.A125T|MCTP2_uc002btg.4_Missense_Mutation_p.A125T|MCTP2_uc002bth.4_Missense_Mutation_p.A125T	NM_018349	NP_060819	Q6DN12	MCTP2_HUMAN	Homo sapiens multiple C2 domains, transmembrane 2 (MCTP2), transcript variant 1, mRNA.	125					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			GGAGGCCTATGCCTCTCCTGC	0.527000														69			48		0	0	1	0	0
ACTR10	55860	broad.mit.edu	37	14	58678106	58678106	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:58678106C>A	uc001xdf.3	+	4	542	c.439C>A	c.(439-441)Ctg>Atg	p.L147M	C14orf37_uc010tro.2_Intron|ACTR10_uc021rtr.1_5'Flank|ACTR10_uc010trp.2_5'Flank|ACTR10_uc010apc.3_5'Flank	NM_018477	NP_060947	Q9NZ32	ARP10_HUMAN	Homo sapiens actin-related protein 10 homolog (S. cerevisiae) (ACTR10), mRNA.	147						cytoplasm		p.L147L(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	13						TAGGGAAAGCCTGGTGTTACC	0.383000														105			60		5.5144e-22	7.1535e-22	1	1	0
DIRC2	84925	broad.mit.edu	37	3	122591370	122591370	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:122591370C>A	uc003efw.4	+	7	1386	c.1247C>A	c.(1246-1248)aCt>aAt	p.T416N	DIRC2_uc010hrl.3_Non-coding_Transcript|DIRC2_uc010hrm.3_Missense_Mutation_p.T254N	NM_032839	NP_116228	Q96SL1	DIRC2_HUMAN	Homo sapiens disrupted in renal carcinoma 2 (DIRC2), mRNA.	416					transport	integral to membrane				endometrium(2)|large_intestine(1)|lung(14)|prostate(1)	18				GBM - Glioblastoma multiforme(114;0.0614)		GAAGGAATTACTTGTGGAGTT	0.333000														79			56		1.19403e-26	1.56656e-26	1	1	0
PCNXL2	80003	broad.mit.edu	37	1	233394057	233394057	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:233394057C>T	uc001hvl.2	-	4	1786	c.1551G>A	c.(1549-1551)tcG>tcA	p.S517S	PCNXL2_uc009xfu.3_Non-coding_Transcript|PCNXL2_uc009xfv.1_Non-coding_Transcript	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA.	517						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				ACTTACAAGACGATGGGTCAA	0.522000														34			26		0	0	1	0	0
HABP2	3026	broad.mit.edu	37	10	115341888	115341888	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:115341888C>T	uc001lai.4	+	8	1195	c.1092C>T	c.(1090-1092)acC>acT	p.T364T	HABP2_uc021pyr.1_Silent_p.T338T|HABP2_uc010qrz.1_Intron	NM_004132	NP_001171131	Q14520	HABP2_HUMAN	Homo sapiens hyaluronan binding protein 2 (HABP2), transcript variant 1, mRNA.	364	Peptidase S1.				cell adhesion|proteolysis	extracellular space	glycosaminoglycan binding|serine-type endopeptidase activity	p.T364T(2)		breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.0233)|Breast(234;0.0672)		Epithelial(162;0.00319)|all cancers(201;0.0112)		CCCACTGCACCGAGTAGGTGC	0.637000														17			5		0	0	1	0	0
STAG1	10274	broad.mit.edu	37	3	136076622	136076622	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:136076622G>A	uc003era.1	-	27	3297	c.3005C>T	c.(3004-3006)gCt>gTt	p.A1002V	STAG1_uc003erb.1_Missense_Mutation_p.A1002V	NM_005862	NP_005853	Q8WVM7	STAG1_HUMAN	Homo sapiens stromal antigen 1 (STAG1), mRNA.	1002					cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						TTCAAGAAAAGCCAGATTAGG	0.323000														58			8		0	0	1	0	0
AFAP1L2	84632	broad.mit.edu	37	10	116056780	116056780	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:116056780G>A	uc001lbn.3	-	17	2688	c.2387C>T	c.(2386-2388)tCg>tTg	p.S796L	AFAP1L2_uc001lbo.3_Missense_Mutation_p.S792L|AFAP1L2_uc010qse.2_Missense_Mutation_p.S849L|AFAP1L2_uc001lbp.3_Missense_Mutation_p.S820L|AFAP1L2_uc001lbm.3_Missense_Mutation_p.S235L|AFAP1L2_uc010qsd.2_Missense_Mutation_p.S358L|AFAP1L2_uc001lbq.1_Missense_Mutation_p.S318L	NM_001001936	NP_001001936	Q8N4X5	AF1L2_HUMAN	Homo sapiens actin filament associated protein 1-like 2 (AFAP1L2), transcript variant 1, mRNA.	796					inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle	cytoplasm	SH2 domain binding|SH3 domain binding|protein tyrosine kinase activator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2)	21		Colorectal(252;0.175)|Breast(234;0.231)		Epithelial(162;0.0219)|all cancers(201;0.0561)		GACCACGACCGAGAGAGGCCT	0.567000														64			4		0	0	1	0	0
TLE3	7090	broad.mit.edu	37	15	70350628	70350628	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:70350628G>A	uc002asl.2	-	10	1237	c.936C>T	c.(934-936)aaC>aaT	p.N312N	TLE3_uc002ask.2_Silent_p.N251N|TLE3_uc010ukd.1_Silent_p.N300N|TLE3_uc010bil.1_Silent_p.N307N|TLE3_uc002asn.2_Silent_p.N307N|TLE3_uc002asm.2_Silent_p.N307N|TLE3_uc002asp.2_Silent_p.N307N|TLE3_uc002aso.2_Silent_p.N307N	NM_001105192	NP_001098662	Q04726	TLE3_HUMAN	Homo sapiens transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila) (TLE3), transcript variant 2, mRNA.	307	Pro/Ser-rich.				Wnt receptor signaling pathway|organ morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						AGGATTTGTCGTTCTGAAGAG	0.617000														84			43		0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	17147575	17147575	+	Splice_Site	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:17147575C>A	uc001ioo.3	-	11	1164	c.1112_splice	c.e11-1	p.G371_splice		NM_001081	NP_001072	O60494	CUBN_HUMAN	Homo sapiens cubilin (intrinsic factor-cobalamin receptor) (CUBN), mRNA.	371	EGF-like 5.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GGTAAGGAACCTGTTCAGAAA	0.453000														18			9		2.17888e-05	2.40634e-05	1	1	0
ATG2A	23130	broad.mit.edu	37	11	64674212	64674212	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:64674212C>T	uc001obx.3	-	19	3023	c.2908G>A	c.(2908-2910)Gtc>Atc	p.V970I		NM_015104	NP_055919	Q2TAZ0	ATG2A_HUMAN	Homo sapiens ATG2 autophagy related 2 homolog A (S. cerevisiae) (ATG2A), mRNA.	970							protein binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						TACTGGGAGACGCTGAAGAGG	0.622000														47			10		0	0	1	0	0
SNX14	57231	broad.mit.edu	37	6	86224236	86224236	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:86224236G>T	uc003pkr.3	-	23	2573	c.2380C>A	c.(2380-2382)Ctg>Atg	p.L794M	SNX14_uc003pkp.3_Missense_Mutation_p.L657M|SNX14_uc003pkq.3_Missense_Mutation_p.L400M|SNX14_uc011dzg.2_Missense_Mutation_p.L742M|SNX14_uc003pks.3_Missense_Mutation_p.L741M|SNX14_uc003pkt.3_Missense_Mutation_p.L785M	NM_153816	NP_722523	Q9Y5W7	SNX14_HUMAN	Homo sapiens sorting nexin 14 (SNX14), transcript variant 1, mRNA.	794					cell communication|protein transport	integral to membrane	phosphatidylinositol binding|signal transducer activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1)	22		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)		BRCA - Breast invasive adenocarcinoma(108;0.0423)		ACATACATCAGGTAATCATAG	0.333000														85			37		1.04594e-18	1.34305e-18	1	1	0
LDLRAD3	143458	broad.mit.edu	37	11	36250939	36250939	+	Nonsense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:36250939G>T	uc001mwk.1	+	5	1067	c.1030G>T	c.(1030-1032)Gaa>Taa	p.E344*	LDLRAD3_uc010rey.1_Nonsense_Mutation_p.E295*|LDLRAD3_uc010rez.1_Nonsense_Mutation_p.E223*|LDLRAD3_uc010rfa.1_Non-coding_Transcript	NM_174902	NP_777562	Q86YD5	LRAD3_HUMAN	Homo sapiens low density lipoprotein receptor class A domain containing 3 (LDLRAD3), mRNA.	344						integral to membrane	receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(7)|skin(1)	28	all_lung(20;0.089)|Lung NSC(22;0.175)|all_epithelial(35;0.177)	all_hematologic(20;0.124)				GGGCACTGAAGAAGTATAAGT	0.552000														53			33		7.11191e-15	8.93066e-15	1	1	0
FAM216A	29902	broad.mit.edu	37	12	110927873	110927873	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:110927873A>C	uc001tqu.4	+	6	1202	c.753A>C	c.(751-753)gaA>gaC	p.E251D		NM_013300	NP_037432	Q8WUB2	CL024_HUMAN	Homo sapiens chromosome 12 open reading frame 24 (C12orf24), mRNA.	251																	AAAAGGAAGAAGATTTACTAA	0.318000														75			9		0	0	1	0	0
LONP1	9361	broad.mit.edu	37	19	5700874	5700874	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:5700874G>T	uc002mcx.3	-	8	1465	c.1432C>A	c.(1432-1434)Ctg>Atg	p.L478M	LONP1_uc002mcy.3_Missense_Mutation_p.L414M|LONP1_uc010duh.3_Missense_Mutation_p.L219M|LONP1_uc010dui.3_Missense_Mutation_p.L462M|LONP1_uc002mcz.3_Missense_Mutation_p.L282M	NM_004793	NP_004784	P36776	LONM_HUMAN	Homo sapiens lon peptidase 1, mitochondrial (LONP1), nuclear gene encoding mitochondrial protein, mRNA.	478					cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia	mitochondrial nucleoid	ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GCCAGGTCCAGGTTCTCGTTG	0.602000														96			10		7.48243e-07	8.52591e-07	1	1	0
ZZEF1	23140	broad.mit.edu	37	17	4005701	4005701	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:4005701G>T	uc002fxe.3	-	8	1646	c.1582C>A	c.(1582-1584)Ctc>Atc	p.L528I	ZZEF1_uc002fxk.1_Missense_Mutation_p.L528I	NM_015113	NP_055928	O43149	ZZEF1_HUMAN	Homo sapiens zinc finger, ZZ-type with EF-hand domain 1 (ZZEF1), mRNA.	528							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						GTCAACTGGAGAGGTTTACCT	0.448000														40			32		1.22384e-17	1.5618e-17	1	1	0
ACTL7B	10880	broad.mit.edu	37	9	111617534	111617534	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:111617534C>T	uc004bdi.3	-	0	742	c.677G>A	c.(676-678)gGg>gAg	p.G226E		NM_006686	NP_006677	Q9Y614	ACL7B_HUMAN	Homo sapiens actin-like 7B (ACTL7B), mRNA.	226						actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						GAGGTCACCCCCAGCGTAGTC	0.647000														17			14		0	0	1	0	0
TIE1	7075	broad.mit.edu	37	1	43770805	43770805	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:43770805G>A	uc001ciu.3	+	1	519	c.342G>A	c.(340-342)acG>acA	p.T114T	TIE1_uc010okd.2_Silent_p.T114T|TIE1_uc010oke.2_Silent_p.T69T|TIE1_uc009vwq.3_Silent_p.T114T|TIE1_uc010okf.1_5'UTR|TIE1_uc010okg.2_5'Flank|TIE1_uc010oka.2_Silent_p.T114T|TIE1_uc010okb.2_Silent_p.T114T|TIE1_uc010okc.2_Silent_p.T114T	NM_005424	NP_005415	P35590	TIE1_HUMAN	Homo sapiens tyrosine kinase with immunoglobulin-like and EGF-like domains 1 (TIE1), transcript variant 1, mRNA.	114					mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CGCGGCGCACGCGCGTCATCT	0.701000														13			4		0	0	1	0	0
LMO7	4008	broad.mit.edu	37	13	76287327	76287327	+	Nonsense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:76287327G>T	uc021rkq.1	+	1	414	c.79G>T	c.(79-81)Gag>Tag	p.E27*	LMO7_uc010thv.2_Nonsense_Mutation_p.E79*|LMO7_uc001vjt.1_Nonsense_Mutation_p.E27*	NM_005358	NP_005349	Q8WWI1	LMO7_HUMAN	Homo sapiens LIM domain 7 (LMO7), transcript variant 1, mRNA.	79						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		GGCAGTAACAGAGAAGAATTT	0.303000														18			5		0.000602214	0.000641151	1	1	0
SGK2	10110	broad.mit.edu	37	20	42194986	42194986	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:42194986C>T	uc002xkv.3	+	0	250	c.31C>T	c.(31-33)Ccc>Tcc	p.P11S	SGK2_uc002xkr.3_Intron|SGK2_uc010ggm.3_Intron|SGK2_uc002xkt.3_Intron|SGK2_uc002xku.3_Intron|SGK2_uc002xkq.1_Intron	NM_016276	NP_733794	Q9HBY8	SGK2_HUMAN	Homo sapiens serum/glucocorticoid regulated kinase 2 (SGK2), transcript variant 2, mRNA.	11					intracellular protein kinase cascade|response to oxidative stress		ATP binding|potassium channel regulator activity|protein serine/threonine kinase activity|sodium channel regulator activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			GGGTAGGAAACCCTCAGGCGG	0.577000														54			40		0	0	1	0	0
PEAK1	79834	broad.mit.edu	37	15	77472047	77472047	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:77472047G>T	uc021sqy.1	-	4	2798	c.2222C>A	c.(2221-2223)cCt>cAt	p.P741H	PEAK1_uc002bcn.2_Missense_Mutation_p.P741H|PEAK1_uc021sqz.1_Missense_Mutation_p.P139H	NM_024776	NP_079052	Q9H792	PEAK1_HUMAN	Homo sapiens NKF3 kinase family member (PEAK1), mRNA.	741					cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding										TTTGGCCACAGGCTCTTGAGT	0.507000														56			40		1.07121e-22	1.39245e-22	1	1	0
MAGEB3	4114	broad.mit.edu	37	X	30254597	30254597	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:30254597C>T	uc022bug.1	+	0	556	c.556C>T	c.(556-558)Ctc>Ttc	p.L186F	MAGEB3_uc004dca.2_Missense_Mutation_p.L186F	NM_002365	NP_002356	O15480	MAGB3_HUMAN	Homo sapiens melanoma antigen family B, 3 (MAGEB3), mRNA.	186	MAGE.									NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	25						CAAAATGGATCTCCCCAACAA	0.468000														41			28		0	0	1	0	0
OR1M1	125963	broad.mit.edu	37	19	9204585	9204585	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9204585T>C	uc010xkj.2	+	0	665	c.665T>C	c.(664-666)cTt>cCt	p.L222P		NM_001004456	NP_001004456	Q8NGA1	OR1M1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily M, member 1 (OR1M1), mRNA.	222					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						GCTCGCATCCTTGTGGCCATC	0.567000														86			15		0	0	1	0	0
PPIG	9360	broad.mit.edu	37	2	170471162	170471162	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:170471162A>G	uc002uez.3	+	8	695	c.475A>G	c.(475-477)Aca>Gca	p.T159A	PPIG_uc010fpx.3_Missense_Mutation_p.T144A|PPIG_uc010fpy.3_Missense_Mutation_p.T155A|PPIG_uc002ufa.3_Missense_Mutation_p.T159A|PPIG_uc002ufb.3_Missense_Mutation_p.T159A|PPIG_uc002ufc.1_Missense_Mutation_p.T159A|PPIG_uc002ufd.3_Missense_Mutation_p.T159A	NM_004792	NP_004783	Q13427	PPIG_HUMAN	Homo sapiens peptidylprolyl isomerase G (cyclophilin G) (PPIG), mRNA.	159	PPIase cyclophilin-type.				RNA splicing|protein folding	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	AAACCAGAAAACAGATGCAGC	0.358000														64			57		0	0	1	0	0
CDCA7L	55536	broad.mit.edu	37	7	21946038	21946038	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:21946038G>A	uc010kuk.3	-	5	910	c.790C>T	c.(790-792)Cag>Tag	p.Q264*	CDCA7L_uc003sve.4_Nonsense_Mutation_p.Q230*|CDCA7L_uc010kul.3_Nonsense_Mutation_p.Q218*|CDCA7L_uc003svf.4_Nonsense_Mutation_p.Q263*	NM_018719	NP_001120842	Q96GN5	CDA7L_HUMAN	Homo sapiens cell division cycle associated 7-like (CDCA7L), transcript variant 1, mRNA.	264					positive regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	29						CGCGTGATCTGTCCCTCCGAG	0.542000														145			44		0	0	1	0	0
TAOK2	9344	broad.mit.edu	37	16	29989643	29989643	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:29989643G>A	uc010bzm.2	+	2	310	c.275G>A	c.(274-276)cGg>cAg	p.R92Q	BOLA2_uc010bzb.1_Intron|TAOK2_uc002dvb.2_Missense_Mutation_p.R92Q|TAOK2_uc021tgf.1_Missense_Mutation_p.R92Q|TAOK2_uc002dva.2_Missense_Mutation_p.R92Q|TAOK2_uc002dvc.2_Missense_Mutation_p.R92Q|TAOK2_uc002dvd.2_5'Flank	NM_016151	NP_057235	Q9UL54	TAOK2_HUMAN	Homo sapiens TAO kinase 2 (TAOK2), transcript variant 1, mRNA.	92	Protein kinase.				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						ATTCAGTACCGGGGCTGTTAC	0.547000														117			56		0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110498895	110498895	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:110498895C>A	uc003yne.3	+	58	9829	c.9725C>A	c.(9724-9726)cCt>cAt	p.P3242H		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	3242					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TACCATGTCCCTGGAACTGGT	0.423000										HNSCC(38;0.096)				135			11		0.0135373	0.0139797	1	1	0
BARD1	580	broad.mit.edu	37	2	215645746	215645746	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:215645746C>A	uc002veu.2	-	3	987	c.852G>T	c.(850-852)gaG>gaT	p.E284D	BARD1_uc021vwe.1_Missense_Mutation_p.E265D|BARD1_uc021vwf.1_Missense_Mutation_p.E187D|BARD1_uc021vwg.1_Intron|BARD1_uc021vwh.1_Intron|BARD1_uc021vwi.1_Intron|BARD1_uc021vwc.1_Intron|BARD1_uc021vwd.1_Intron|BARD1_uc010zjm.1_Missense_Mutation_p.E140D|BARD1_uc021vwj.1_Missense_Mutation_p.E284D	NM_000465	NP_000456	Q99728	BARD1_HUMAN	Homo sapiens BRCA1 associated RING domain 1 (BARD1), mRNA.	284					DNA repair|cell cycle arrest|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis	BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm	RNA binding|kinase binding|protein heterodimerization activity|protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding			NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35		Renal(323;0.0243)		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		ACTCTATTTGCTCAGCCAATG	0.383000									Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome					58			35		4.4194e-11	5.38326e-11	1	1	0
SLC17A6	57084	broad.mit.edu	37	11	22396404	22396404	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:22396404C>T	uc001mqk.3	+	8	1558	c.1145C>T	c.(1144-1146)aCg>aTg	p.T382M		NM_020346	NP_065079	Q9P2U8	VGLU2_HUMAN	Homo sapiens solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6 (SLC17A6), mRNA.	382					sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						CTTTCAACTACGACAGTGAGA	0.373000														155			69		0	0	1	0	0
SLC34A2	10568	broad.mit.edu	37	4	25676131	25676131	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:25676131C>T	uc003grr.3	+	11	1419	c.1338C>T	c.(1336-1338)atC>atT	p.I446I	SLC34A2_uc003grs.3_Silent_p.I445I|SLC34A2_uc010iev.3_Silent_p.I445I	NM_006424	NP_006415	O95436	NPT2B_HUMAN	Homo sapiens solute carrier family 34 (sodium phosphate), member 2 (SLC34A2), transcript variant 1, mRNA.	446					cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				CCCCAGGAATCGGCGTGATAA	0.567000			T	ROS1	NSCLC									61			39		0	0	1	0	0
OR51F2	119694	broad.mit.edu	37	11	4843361	4843361	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:4843361G>A	uc010qyn.2	+	0	746	c.746G>A	c.(745-747)cGg>cAg	p.R249Q		NM_001004753	NP_001004753	Q8NH61	O51F2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily F, member 2 (OR51F2), mRNA.	249					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		GAAGAGAGGCGGAAAGCCTTC	0.502000														38			24		0	0	1	0	0
OR2T10	127069	broad.mit.edu	37	1	248756983	248756983	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:248756983C>T	uc010pzn.2	-	0	87	c.87G>A	c.(85-87)ttG>ttA	p.L29L		NM_001004693	NP_001004693	Q8NGZ9	O2T10_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 10 (OR2T10), mRNA.	29					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1)	26	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)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGAAGATAAGCAAGCAGAGGC	0.473000														43			6		0	0	1	0	0
CHRNA7	1139	broad.mit.edu	37	15	32460237	32460237	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:32460237C>T	uc021sic.1	+	9	1281	c.1174C>T	c.(1174-1176)Cgc>Tgc	p.R392C	DKFZp434L187_uc001zfv.1_Intron|CHRNA7_uc001zft.3_Missense_Mutation_p.R363C|CHRNA7_uc010baf.3_Missense_Mutation_p.R182C|CHRNA7_uc010bak.3_Missense_Mutation_p.R278C	NM_001190455	NP_683709	P36544	ACHA7_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 7 (CHRNA7), transcript variant 2, mRNA.	363					activation of MAPK activity|calcium ion transport|cellular calcium ion homeostasis|memory|negative regulation of tumor necrosis factor production|positive regulation of angiogenesis|positive regulation of cell proliferation|response to hypoxia|response to nicotine	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|beta-amyloid binding|chloride channel regulator activity|nicotinic acetylcholine-activated cation-selective channel activity|protein homodimerization activity|toxin binding			endometrium(3)|large_intestine(1)|lung(6)|ovary(2)	12		all_lung(180;6.35e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)	Nicotine(DB00184)|Varenicline(DB01273)	CAAGCAGCGGCGCTGCAGCCT	0.687000														37			8		0	0	1	0	0
ZFP37	7539	broad.mit.edu	37	9	115806439	115806439	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:115806439G>A	uc011lwz.1	-	3	532	c.504C>T	c.(502-504)gaC>gaT	p.D168D	ZFP37_uc004bgm.1_Silent_p.D153D|ZFP37_uc011lxa.1_Silent_p.D154D	NM_003408	NP_003399	Q9Y6Q3	ZFP37_HUMAN	Homo sapiens zinc finger protein 37 homolog (mouse) (ZFP37), mRNA.	153						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						GTGAACCACAGTCACTGCCAT	0.348000														75			53		0	0	1	0	0
SYNRG	11276	broad.mit.edu	37	17	35900533	35900533	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:35900533G>A	uc002hoa.3	-	15	3398	c.3315C>T	c.(3313-3315)ccC>ccT	p.P1105P	SYNRG_uc010wde.2_Silent_p.P1027P|SYNRG_uc010wdf.2_Silent_p.P1027P|SYNRG_uc002hoc.3_Silent_p.P1026P|SYNRG_uc002hoe.3_Silent_p.P1027P|SYNRG_uc002hod.3_Silent_p.P982P|SYNRG_uc010wdg.2_Silent_p.P899P|SYNRG_uc002hob.3_Silent_p.P1105P	NM_007247	NP_009178	Q9UMZ2	SYNRG_HUMAN	Homo sapiens synergin, gamma (SYNRG), transcript variant 1, mRNA.	1105					endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						CGGGCAGGGCGGGCTTCTCAT	0.522000														65			33		0	0	1	0	0
ARHGEF19	128272	broad.mit.edu	37	1	16535435	16535435	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:16535435C>T	uc001ayc.1	-	1	252	c.115G>A	c.(115-117)Gcc>Acc	p.A39T	ARHGEF19_uc009voo.1_5'Flank	NM_153213	NP_694945	Q8IW93	ARHGJ_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 19 (ARHGEF19), mRNA.	39					regulation of actin cytoskeleton organization	intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)		GGCTTCAGGGCGGGCAGCTCT	0.677000														17			5		0	0	1	0	0
ESRRA	2101	broad.mit.edu	37	11	64083220	64083220	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:64083220C>T	uc001nzq.1	+	6	1231	c.1054C>T	c.(1054-1056)Cga>Tga	p.R352*	ESRRA_uc001nzr.1_Nonsense_Mutation_p.R351*|ESRRA_uc001nzs.1_Nonsense_Mutation_p.R352*|ESRRA_uc021qku.1_5'Flank|PRDX5_uc001nzu.3_5'Flank|PRDX5_uc001nzv.3_5'Flank|PRDX5_uc001nzw.3_5'Flank	NM_004451	NP_004442	P11474	ERR1_HUMAN	Homo sapiens estrogen-related receptor alpha (ESRRA), mRNA.	352	Ligand binding domain.				positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein domain specific binding|sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding	p.R352P(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(8)	14						GGAGCAGCTGCGAGAAGCTCT	0.667000														84			6		0	0	1	0	0
ZNF708	7562	broad.mit.edu	37	19	21476213	21476213	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:21476213G>T	uc002npq.1	-	3	1753	c.1555C>A	c.(1555-1557)Ctt>Att	p.L519I	ZNF708_uc002npr.1_Missense_Mutation_p.L455I|ZNF708_uc010ecs.1_Missense_Mutation_p.L455I	NM_021269	NP_067092	P17019	ZN708_HUMAN	Homo sapiens zinc finger protein 708 (ZNF708), mRNA.	519					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(2)|stomach(1)	32						TGTTTCATAAGGGTTGAGGAC	0.368000														50			7		8.12818e-05	8.84769e-05	1	1	0
ADD3	120	broad.mit.edu	37	10	111892062	111892062	+	Splice_Site	SNP	G	T	T	rs147358716		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:111892062G>T	uc001kyu.3	+	14	1889	c.1733_splice	c.e14-1	p.D578_splice	ADD3_uc001kyt.4_Splice_Site_p.D578_splice|ADD3_uc001kys.4_Intron|ADD3_uc001kyv.3_Splice_Site_p.D578_splice|ADD3_uc001kyw.3_Intron|ADD3_uc001kyx.3_Splice_Site_p.D151_splice	NM_016824	NP_058432	Q9UEY8	ADDG_HUMAN	Homo sapiens adducin 3 (gamma) (ADD3), transcript variant 1, mRNA.	578						cytoskeleton	actin binding|calmodulin binding|metal ion binding|structural constituent of cytoskeleton			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	29		Breast(234;0.052)|Lung NSC(174;0.223)		Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742)		TTATCCAACAGATGCTGAGCA	0.383000														51			11		0.000673444	0.000715966	1	1	0
LARP4B	23185	broad.mit.edu	37	10	859132	859132	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:859132C>T	uc001ifs.1	-	16	1992	c.1951G>A	c.(1951-1953)Gca>Aca	p.A651T		NM_015155	NP_055970	Q92615	LAR4B_HUMAN	Homo sapiens La ribonucleoprotein domain family, member 4B (LARP4B), mRNA.	651							RNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						CAAATCTCTGCGTAGCTGGGC	0.453000														72			10		0	0	1	0	0
GTF2E1	2960	broad.mit.edu	37	3	120469544	120469544	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:120469544C>T	uc003edz.4	+	1	259	c.145C>T	c.(145-147)Ctg>Ttg	p.L49L		NM_005513	NP_005504	P29083	T2EA_HUMAN	Homo sapiens general transcription factor IIE, polypeptide 1, alpha 56kDa (GTF2E1), mRNA.	49	HTH TFE/IIEalpha-type.				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)	22				GBM - Glioblastoma multiforme(114;0.159)		GGAGGATATGCTGGAGCTGCT	0.453000														56			41		0	0	1	0	0
FRMPD4	9758	broad.mit.edu	37	X	12627867	12627867	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:12627867C>T	uc004cuz.2	+	2	692	c.186C>T	c.(184-186)gaC>gaT	p.D62D	FRMPD4_uc011mij.2_Silent_p.D54D	NM_014728	NP_055543	Q14CM0	FRPD4_HUMAN	Homo sapiens FERM and PDZ domain containing 4 (FRMPD4), mRNA.	62	WW.				positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						TCCCTTTTGACGACCCTCGGT	0.512000														46			30		0	0	1	0	0
C10orf46	143384	broad.mit.edu	37	10	120450775	120450775	+	Splice_Site	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:120450775G>A	uc001lds.1	-	7	1509	c.1025_splice	c.e7+1	p.R342_splice	C10orf46_uc010qst.1_Splice_Site	NM_153810	NP_722517	Q86Y37	CJ046_HUMAN	Homo sapiens chromosome 10 open reading frame 46 (C10orf46), mRNA.	342					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex	ubiquitin protein ligase binding			endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	11		Lung NSC(174;0.142)|all_lung(145;0.175)		all cancers(201;0.0131)		AAAACAACTTGCCTTGTAAAA	0.408000														112			61		0	0	1	0	0
ANKLE2	23141	broad.mit.edu	37	12	133327369	133327369	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:133327369C>T	uc001ukx.2	-	2	774	c.707G>A	c.(706-708)cGa>cAa	p.R236Q	ANKLE2_uc001uky.3_Missense_Mutation_p.R174Q	NM_015114	NP_055929	Q86XL3	ANKL2_HUMAN	Homo sapiens ankyrin repeat and LEM domain containing 2 (ANKLE2), mRNA.	236						cytoplasm|integral to membrane|nuclear envelope				NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		AGCTTTAAATCGGGACCCTTT	0.373000														48			27		0	0	1	0	0
BTBD2	55643	broad.mit.edu	37	19	1987624	1987624	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:1987624G>T	uc002lup.1	-	5	1056	c.1056C>A	c.(1054-1056)aaC>aaA	p.N352K	BTBD2_uc002luo.1_Missense_Mutation_p.N31K	NM_017797	NP_060267	Q9BX70	BTBD2_HUMAN	Homo sapiens BTB (POZ) domain containing 2 (BTBD2), mRNA.	352						cytoplasmic mRNA processing body	protein binding			endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)	12		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTGGCTTGGGGTTGACGGTGA	0.667000														12			6		5.9392e-07	6.7814e-07	1	1	0
ARHGEF10L	55160	broad.mit.edu	37	1	18023646	18023646	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:18023646G>A	uc001ban.3	+	28	3770	c.3611G>A	c.(3610-3612)aGc>aAc	p.S1204N	ARHGEF10L_uc001bao.3_Missense_Mutation_p.S1165N|ARHGEF10L_uc001bap.3_Missense_Mutation_p.S1160N|ARHGEF10L_uc001baq.3_Missense_Mutation_p.S965N|ARHGEF10L_uc010ocs.2_Missense_Mutation_p.S977N|ARHGEF10L_uc001bar.3_Missense_Mutation_p.S907N|ARHGEF10L_uc009vpf.3_Non-coding_Transcript|ARHGEF10L_uc001bas.3_Missense_Mutation_p.S228N	NM_018125	NP_060595	Q9HCE6	ARGAL_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 10-like (ARHGEF10L), transcript variant 1, mRNA.	1204					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		TTGGAGCACAGCGAGGAGGAC	0.687000														9			13		0	0	1	0	0
PARP11	57097	broad.mit.edu	37	12	3939117	3939117	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:3939117G>A	uc001qmk.1	-	0	120	c.65C>T	c.(64-66)aCg>aTg	p.T22M	PARP11_uc001qml.2_Missense_Mutation_p.T29M|PARP11_uc009zef.2_Non-coding_Transcript|PARP11_uc001qmm.2_5'UTR|PARP11_uc001qmn.2_5'UTR	NM_020367	NP_065100	Q9NR21	PAR11_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 11 (PARP11), mRNA.	22	WWE.						NAD+ ADP-ribosyltransferase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	17			all cancers(3;1.58e-07)|OV - Ovarian serous cystadenocarcinoma(31;0.00287)|GBM - Glioblastoma multiforme(3;0.0141)|COAD - Colon adenocarcinoma(12;0.0264)			GGTATCTGACGTGTCCATGTC	0.413000														58			4		0	0	1	0	0
NTRK2	4915	broad.mit.edu	37	9	87635123	87635123	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:87635123C>T	uc004aoa.1	+	18	3065	c.2127C>T	c.(2125-2127)gtC>gtT	p.V709V	NTRK2_uc004anz.1_Silent_p.V725V	NM_001018064	NP_001018074	Q16620	NTRK2_HUMAN	Homo sapiens neurotrophic tyrosine kinase, receptor, type 2 (NTRK2), transcript variant c, mRNA.	709	Protein kinase.				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46						CTCCCCAGGTCGGTGGCCACA	0.567000										TSP Lung(25;0.17)				50			39		0	0	1	0	0
HSPA2	3306	broad.mit.edu	37	14	65008248	65008248	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:65008248C>T	uc001xhj.3	+	1	757	c.681C>T	c.(679-681)ggC>ggT	p.G227G	HSPA2_uc001xhk.4_Silent_p.G227G	NM_021979	NP_068814	P54652	HSP72_HUMAN	Homo sapiens heat shock 70kDa protein 2 (HSPA2), mRNA.	227					response to unfolded protein|spermatid development	cell surface	ATP binding|unfolded protein binding			breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)		CCACGGCCGGCGACACCCACC	0.602000														54			25		0	0	1	0	0
KCNMB1	3779	broad.mit.edu	37	5	169812421	169812421	+	Missense_Mutation	SNP	G	A	A	rs139716868	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:169812421G>A	uc003maq.1	-	1	431	c.31C>T	c.(31-33)Cgg>Tgg	p.R11W	KCNIP1_uc003map.3_Intron|KCNMB1_uc003mar.3_Missense_Mutation_p.R11W	NM_004137	NP_004128	Q16558	KCMB1_HUMAN	Homo sapiens potassium large conductance calcium-activated channel, subfamily M, beta member 1 (KCNMB1), mRNA.	11					platelet activation|synaptic transmission		calcium-activated potassium channel activity|potassium channel regulator activity			endometrium(1)|large_intestine(1)|lung(7)|ovary(2)	11	Renal(175;0.000159)|Lung NSC(126;0.0165)|all_lung(126;0.026)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.175)		GTCTCTCCCCGCTTCTGGGCC	0.542000														20			18		0	0	1	0	0
MDN1	23195	broad.mit.edu	37	6	90384300	90384300	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:90384300A>C	uc003pnn.1	-	78	12886	c.12770T>G	c.(12769-12771)cTc>cGc	p.L4257R		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	Homo sapiens MDN1, midasin homolog (yeast) (MDN1), mRNA.	4257					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CACACAGCTGAGGAGGTTCCT	0.512000														31			6		0	0	1	0	0
CXXC1	30827	broad.mit.edu	37	18	47809307	47809307	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:47809307G>A	uc002leq.4	-	13	2474	c.1741C>T	c.(1741-1743)Cgc>Tgc	p.R581C	MBD1_uc002leg.3_5'Flank|MBD1_uc010dow.2_5'Flank|MBD1_uc010xdi.2_5'Flank|MBD1_uc010xdj.2_5'Flank|MBD1_uc002lel.4_5'Flank|MBD1_uc002len.3_5'Flank|MBD1_uc002leh.4_5'Flank|MBD1_uc002lei.4_5'Flank|MBD1_uc002lej.4_5'Flank|MBD1_uc002lek.4_5'Flank|MBD1_uc002lem.4_5'Flank|MBD1_uc021ukd.1_5'Flank|MBD1_uc021uke.1_5'Flank|MBD1_uc010xdk.2_5'Flank|MBD1_uc010dox.1_5'Flank|MBD1_uc002leo.2_5'Flank|CXXC1_uc002lep.4_Missense_Mutation_p.R438C|CXXC1_uc002ler.4_Missense_Mutation_p.R585C|CXXC1_uc010doy.3_Silent_p.A568A	NM_014593	NP_055408	Q9P0U4	CXXC1_HUMAN	Homo sapiens CXXC finger protein 1 (CXXC1), transcript variant 2, mRNA.	581					histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	Set1C/COMPASS complex|nuclear speck	protein binding|unmethylated CpG binding|zinc ion binding	p.R581H(1)		autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						TTGGGCAGGCGGCAGAAGTCA	0.612000														25			4		0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110535097	110535097	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:110535097C>T	uc003yne.3	+	74	12412	c.12308C>T	c.(12307-12309)tCg>tTg	p.S4103L		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	4103					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CAGCAGCCTTCGGTAAAGGCA	0.458000										HNSCC(38;0.096)				10			4		0	0	1	0	0
MTMR1	8776	broad.mit.edu	37	X	149905115	149905115	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:149905115C>T	uc004feh.1	+	10	1264	c.1129C>T	c.(1129-1131)Ctt>Ttt	p.L377F	MTMR1_uc011mya.1_Missense_Mutation_p.L275F|MTMR1_uc004fei.3_Missense_Mutation_p.L369F|MTMR1_uc004fej.3_Non-coding_Transcript|MTMR1_uc010ntf.3_Intron	NM_003828	NP_003819	Q13613	MTMR1_HUMAN	Homo sapiens myotubularin related protein 1 (MTMR1), mRNA.	369	Myotubularin phosphatase.|Substrate binding (By similarity).					plasma membrane	protein tyrosine phosphatase activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					AAATGCAGAACTTGTGTTCTT	0.403000														78			35		0	0	1	0	0
HCN4	10021	broad.mit.edu	37	15	73635840	73635840	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:73635840C>T	uc002avp.3	-	1	2089	c.1095G>A	c.(1093-1095)tcG>tcA	p.S365S		NM_005477	NP_005468	Q9Y3Q4	HCN4_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 4 (HCN4), mRNA.	365					blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		TGTAGACCTCCGAGTCGATGC	0.512000														14			8		0	0	1	0	0
NLRP8	126205	broad.mit.edu	37	19	56459555	56459555	+	Missense_Mutation	SNP	G	A	A	rs145352424		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:56459555G>A	uc002qmh.3	+	0	358	c.287G>A	c.(286-288)cGc>cAc	p.R96H	NLRP8_uc010etg.3_Missense_Mutation_p.R96H	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA.	96	DAPIN.					cytoplasm	ATP binding	p.R96H(1)		breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		CCTGGACGACGCGCTTGGGAT	0.512000														13			16		0	0	1	0	0
OR2B11	127623	broad.mit.edu	37	1	247614479	247614479	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:247614479C>T	uc010pyx.2	-	0	806	c.806G>A	c.(805-807)aGc>aAc	p.S269N		NM_001004492	NP_001004492	Q5JQS5	OR2BB_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily B, member 11 (OR2B11), mRNA.	269					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			TTGGGAGTAGCTGGAAGGGGG	0.483000														152			8		0	0	1	0	0
PAN2	9924	broad.mit.edu	37	12	56721409	56721409	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56721409G>T	uc001skx.3	-	5	1035	c.658C>A	c.(658-660)Ctg>Atg	p.L220M	PAN2_uc001sky.3_Missense_Mutation_p.L220M|PAN2_uc001skz.3_Missense_Mutation_p.L220M	NM_001127460	NP_001120932	Q504Q3	PAN2_HUMAN	Homo sapiens PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae) (PAN2), transcript variant 1, mRNA.	220					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity	p.L220L(1)		NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						AGGTCTCTCAGGGAAACCTAG	0.448000														60			8		3.09899e-07	3.55757e-07	1	1	0
PDZD2	23037	broad.mit.edu	37	5	32088109	32088109	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:32088109T>G	uc003jhl.3	+	19	4943	c.4555T>G	c.(4555-4557)Ttt>Gtt	p.F1519V	PDZD2_uc003jhm.3_Missense_Mutation_p.F1519V	NM_178140	NP_835260	O15018	PDZD2_HUMAN	Homo sapiens PDZ domain containing 2 (PDZD2), mRNA.	1519					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GAACAAAAACTTTCTGAGCAA	0.498000														45			4		0	0	1	0	0
SACS	26278	broad.mit.edu	37	13	23906959	23906959	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:23906959G>A	uc001uon.2	-	9	11645	c.11056C>T	c.(11056-11058)Cag>Tag	p.Q3686*	SACS_uc001uoo.2_Nonsense_Mutation_p.Q3539*|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA.	3686					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|Hsp70 protein binding|chaperone binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		GGATTTACCTGTGCTCCATTG	0.413000														53			25		0	0	1	0	0
LENG8	114823	broad.mit.edu	37	19	54969112	54969112	+	Splice_Site	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:54969112G>T	uc002qfv.1	+	12	1867	c.1723_splice	c.e12-1	p.V575_splice	LENG8_uc002qfw.2_Splice_Site_p.V612_splice			Q96PV6	LENG8_HUMAN	Homo sapiens leukocyte receptor cluster (LRC) member 8 (LENG8), mRNA.	575							protein binding			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		CGCTGCCCCAGGTGCAGGGCA	0.687000														49			6		0.00198382	0.00208369	1	1	0
VPS72	6944	broad.mit.edu	37	1	151149423	151149423	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:151149423G>T	uc001exe.1	-	5	835	c.792C>A	c.(790-792)acC>acA	p.T264T	TMOD4_uc001exd.3_5'Flank|TMOD4_uc001exc.4_5'Flank|TMOD4_uc010pct.2_5'Flank	NM_005997	NP_005988	Q15906	VPS72_HUMAN	Homo sapiens vacuolar protein sorting 72 homolog (S. cerevisiae) (VPS72), mRNA.	264					chromatin modification|negative regulation of transcription from RNA polymerase II promoter	nucleus|protein complex	DNA binding|sequence-specific DNA binding transcription factor activity	p.R263H(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	14	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			AAGTGATGAAGGTACGTGAGC	0.557000														71			6		4.096e-09	4.85449e-09	1	1	0
BCAN	63827	broad.mit.edu	37	1	156617885	156617885	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:156617885A>G	uc001fpp.3	+	4	1088	c.752A>G	c.(751-753)tAt>tGt	p.Y251C	BCAN_uc001fpo.3_Missense_Mutation_p.Y251C	NM_021948	NP_068767	Q96GW7	PGCB_HUMAN	Homo sapiens brevican (BCAN), transcript variant 1, mRNA.	251	Link 1.				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GTGTACTGTTATGCTGAAGAC	0.567000														115			6		0	0	1	0	0
EPB49	2039	broad.mit.edu	37	8	21938863	21938863	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:21938863G>A	uc022asw.1	+	14	1145	c.1107G>A	c.(1105-1107)agG>agA	p.R369R	EPB49_uc022asq.1_3'UTR|EPB49_uc022asr.1_3'UTR|EPB49_uc022ass.1_3'UTR|EPB49_uc022ast.1_3'UTR|EPB49_uc022asu.1_3'UTR|EPB49_uc022asv.1_3'UTR|EPB49_uc022asx.1_Silent_p.R347R|EPB49_uc022asy.1_Silent_p.R322R	NM_001978	NP_001969	Q08495	DEMA_HUMAN	Homo sapiens erythrocyte membrane protein band 4.9 (dematin) (EPB49), transcript variant 1, mRNA.	369	HP.				actin filament bundle assembly|actin filament capping	actin cytoskeleton|nucleus	actin binding			central_nervous_system(1)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	10				Colorectal(74;9.05e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0631)		CCATGTAGAGGCATCTGTCTG	0.587000														27			13		0	0	1	0	0
MIA3	375056	broad.mit.edu	37	1	222801943	222801943	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:222801943G>A	uc001hnl.3	+	3	1390	c.1381G>A	c.(1381-1383)Gaa>Aaa	p.E461K	MIA3_uc009xea.1_Missense_Mutation_p.E297K	NM_198551	NP_940953	Q5JRA6	MIA3_HUMAN	Homo sapiens melanoma inhibitory activity family, member 3 (MIA3), mRNA.	461					exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		AGTAAACGCAGAACATCACAT	0.393000														121			19		0	0	1	0	0
SLC12A3	6559	broad.mit.edu	37	16	56913136	56913136	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:56913136C>T	uc002ekd.4	+	9	1361	c.1332C>T	c.(1330-1332)taC>taT	p.Y444Y	SLC12A3_uc010ccm.3_Silent_p.Y444Y|SLC12A3_uc010ccn.3_Silent_p.Y443Y	NM_000339	NP_000330	P55017	S12A3_HUMAN	Homo sapiens solute carrier family 12 (sodium/chloride transporters), member 3 (SLC12A3), transcript variant 1, mRNA.	444					sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	TCAACTATTACCAGGTACTGC	0.627000														24			9		0	0	1	0	0
C18orf32	497661	broad.mit.edu	37	18	47009974	47009974	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:47009974T>G	uc002ldk.2	-	1	400	c.145A>C	c.(145-147)Aaa>Caa	p.K49Q	C18orf32_uc002ldl.3_Missense_Mutation_p.K49Q|RPL17-C18ORF32_uc002ldm.2_Silent_p.T225T|RPL17-C18ORF32_uc021ujt.1_Silent_p.T187T	NM_001035005	NP_001186275	Q8TCD1	CR032_HUMAN	Homo sapiens chromosome 18 open reading frame 32 (C18orf32), transcript variant 2, mRNA.	49					positive regulation of I-kappaB kinase/NF-kappaB cascade		signal transducer activity			large_intestine(2)|lung(1)	3						ACTTTGCCTTTGTTTGTATCA	0.393000														177			23		0	0	1	0	0
RANBP9	10048	broad.mit.edu	37	6	13657462	13657462	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:13657462C>T	uc003nbb.3	-	3	842	c.783G>A	c.(781-783)tcG>tcA	p.S261S	RANBP9_uc003nba.3_5'UTR	NM_005493	NP_005484	Q96S59	RANB9_HUMAN	Homo sapiens RAN binding protein 9 (RANBP9), mRNA.	261	B30.2/SPRY.				axon guidance|microtubule nucleation|protein complex assembly	cytosol|microtubule associated complex|nucleus	Ran GTPase binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	16	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.223)			AAGAACAAAACGAATGTCCAT	0.393000														35			24		0	0	1	0	0
C5orf25	375484	broad.mit.edu	37	5	175717816	175717816	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:175717816C>A	uc003mds.4	+	3	1639	c.1232C>A	c.(1231-1233)cCt>cAt	p.P411H	C5orf25_uc003mdr.3_Intron|C5orf25_uc003mdt.4_Intron|C5orf25_uc011dfk.1_Missense_Mutation_p.P430H			Q8NDZ2	CE025_HUMAN	Homo sapiens chromosome 5 open reading frame 25 (C5orf25), mRNA.	411												all_cancers(89;0.00381)|Renal(175;0.000269)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.119)		CCTGCCAAACCTGGGTCTGCC	0.507000														35			19		3.62473e-10	4.36059e-10	1	1	0
UTRN	7402	broad.mit.edu	37	6	144898291	144898291	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:144898291G>A	uc003qkt.3	+	49	7438	c.7346G>A	c.(7345-7347)cGc>cAc	p.R2449H		NM_007124	NP_009055	P46939	UTRO_HUMAN	Homo sapiens utrophin (UTRN), mRNA.	2449					muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		CAGGCCTCTCGCAGAGATCTG	0.498000														36			4		0	0	1	0	0
UBA7	7318	broad.mit.edu	37	3	49847823	49847823	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49847823G>A	uc003cxr.3	-	12	1677	c.1506C>T	c.(1504-1506)ggC>ggT	p.G502G		NM_003335	NP_003326	P41226	UBA7_HUMAN	Homo sapiens ubiquitin-like modifier activating enzyme 7 (UBA7), mRNA.	502	2 approximate repeats.				ISG15-protein conjugation|negative regulation of type I interferon production	cytosol	ATP binding|ISG15 activating enzyme activity|ligase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		CTGGGTTCAGGCCCCGGGCAG	0.587000														66			28		0	0	1	0	0
CCDC62	84660	broad.mit.edu	37	12	123286229	123286229	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:123286229C>A	uc001udc.3	+	8	1698	c.1536C>A	c.(1534-1536)gaC>gaA	p.D512E	CCDC62_uc010tah.2_Non-coding_Transcript|CCDC62_uc001ude.3_Missense_Mutation_p.D273E|CCDC62_uc021rfn.1_Missense_Mutation_p.D327E	NM_201435	NP_958843	Q6P9F0	CCD62_HUMAN	Homo sapiens coiled-coil domain containing 62 (CCDC62), transcript variant 2, mRNA.	512						cytoplasm|nucleus				breast(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206)		GCATGTGTGACTCCAAGTGCT	0.473000														71			35		4.11147e-13	5.10659e-13	1	1	0
ADAR	103	broad.mit.edu	37	1	154562663	154562663	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:154562663C>T	uc001ffh.3	-	6	2735	c.2493G>A	c.(2491-2493)aaG>aaA	p.K831K	ADAR_uc021pag.1_Silent_p.K536K|ADAR_uc001ffj.3_Intron|ADAR_uc001ffi.3_Intron|ADAR_uc001ffk.3_Silent_p.K536K	NM_001111	NP_001180424	P55265	DSRAD_HUMAN	Homo sapiens adenosine deaminase, RNA-specific (ADAR), transcript variant 1, mRNA.	831					adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		TCTTAACTGTCTTTGGCTGTG	0.537000														23			22		0	0	1	0	0
SLC43A2	124935	broad.mit.edu	37	17	1489322	1489322	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:1489322C>T	uc002fsu.3	-	10	1421	c.1114G>A	c.(1114-1116)Ggc>Agc	p.G372S	SLC43A2_uc002fsv.3_Missense_Mutation_p.G368S|SLC43A2_uc002fsw.3_Missense_Mutation_p.G368S|SLC43A2_uc002fsx.3_Missense_Mutation_p.G368S	NM_152346	NP_689559	Q8N370	LAT4_HUMAN	Homo sapiens solute carrier family 43, member 2 (SLC43A2), mRNA.	368					cellular nitrogen compound metabolic process|ion transport	integral to membrane|plasma membrane				endometrium(4)|large_intestine(4)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (25;0.0883)		TGGAGCACGCCGAAGATGGAG	0.647000														10			5		0	0	1	0	0
PTPRH	5794	broad.mit.edu	37	19	55702874	55702874	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:55702874G>T	uc002qjq.3	-	11	2452	c.2379C>A	c.(2377-2379)gtC>gtA	p.V793V	PTPRH_uc010esv.3_Silent_p.V615V|BC034929_uc002qjr.3_Intron	NM_002842	NP_002833	Q9HD43	PTPRH_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, H (PTPRH), transcript variant 1, mRNA.	793					apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		CTCACCTAAAGACCAGATCCC	0.532000														234			19		3.73194e-20	4.81397e-20	1	1	0
HAT1	8520	broad.mit.edu	37	2	172809432	172809432	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:172809432C>A	uc002uhi.3	+	3	298	c.222C>A	c.(220-222)atC>atA	p.I74I	HAT1_uc010fqi.2_Intron|HAT1_uc002uhj.3_5'UTR	NM_003642	NP_003633	O14929	HAT1_HUMAN	Homo sapiens histone acetyltransferase 1 (HAT1), transcript variant 1, mRNA.	74					DNA packaging|chromatin silencing at telomere	cytoplasm|nuclear matrix|nucleoplasm	histone acetyltransferase activity|protein binding			breast(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|prostate(1)	19			OV - Ovarian serous cystadenocarcinoma(117;0.216)			GTCTAAAGATCCTGTTATACT	0.338000														27			14		0.00244969	0.00257145	1	1	0
VPS11	55823	broad.mit.edu	37	11	118948752	118948752	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:118948752C>T	uc010ryx.2	+	10	1773	c.1731C>T	c.(1729-1731)agC>agT	p.S577S	VPS11_uc010ryy.2_Silent_p.S425S	NM_021729	NP_068375	Q9H270	VPS11_HUMAN	Homo sapiens vacuolar protein sorting 11 homolog (S. cerevisiae) (VPS11), mRNA.	579					protein transport	HOPS complex|endocytic vesicle|late endosome membrane|lysosomal membrane	nucleotide binding|protein binding|zinc ion binding			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	29	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)		AAGGCCGCAGCGATAGGGAGG	0.562000														51			41		0	0	1	0	0
APOA1BP	128240	broad.mit.edu	37	1	156562167	156562167	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:156562167C>A	uc001fph.3	+	2	341	c.302C>A	c.(301-303)cCc>cAc	p.P101H	APOA1BP_uc001fpi.3_Missense_Mutation_p.P101H|APOA1BP_uc001fpk.3_5'UTR|APOA1BP_uc010php.1_5'UTR	NM_144772	NP_658985	Q8NCW5	AIBP_HUMAN	Homo sapiens apolipoprotein A-I binding protein (APOA1BP), mRNA.	101	YjeF N-terminal.					extracellular region	protein binding			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|urinary_tract(1)	9	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GCATATCCCCCCACGTCCATG	0.577000														61			5		0.184627	0.186034	1	1	0
HIST1H2AB	8335	broad.mit.edu	37	6	26033407	26033407	+	Missense_Mutation	SNP	C	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:26033407C>G	uc003nft.1	-	0	390	c.390G>C	c.(388-390)aaG>aaC	p.K130N	HIST1H3B_uc003nfs.1_5'Flank	NM_003513	NP_066390	P04908	H2A1B_HUMAN	Homo sapiens histone cluster 1, H2ab (HIST1H2AB), mRNA.	130					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						TAACTCTTCACTTTCCCTTGG	0.488000														33			14		0	0	1	0	0
AKAP17A	8227	broad.mit.edu	37	X	1712574	1712574	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:1712574C>A	uc004cqa.3	+	1	415	c.219C>A	c.(217-219)acC>acA	p.T73T	AKAP17A_uc010ncx.1_Silent_p.T73T|AKAP17A_uc004cqb.3_Non-coding_Transcript|ASMT_uc004cqd.3_5'Flank	NM_005088	NP_005079	Q02040	AK17A_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 17A (AKAP17A), transcript variant 1, mRNA.	73					B cell activation|RNA splicing|mRNA processing|regulation of transcription, DNA-dependent|signal transduction	nuclear speck|spliceosomal complex	RNA binding|nucleotide binding|protein binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)	26						CCAAGAGCACCATGGACTTCA	0.577000														191			17		1.99824e-07	2.30332e-07	1	1	0
REPS2	9185	broad.mit.edu	37	X	17065504	17065504	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:17065504G>A	uc004cxv.1	+	5	977	c.806G>A	c.(805-807)aGc>aAc	p.S269N	REPS2_uc004cxw.1_Missense_Mutation_p.S268N|REPS2_uc011miw.1_Missense_Mutation_p.S128N	NM_004726	NP_004717	Q8NFH8	REPS2_HUMAN	Homo sapiens RALBP1 associated Eps domain containing 2 (REPS2), transcript variant 1, mRNA.	269					epidermal growth factor receptor signaling pathway|protein complex assembly	cytoplasm	calcium ion binding|protein binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(3)|urinary_tract(1)	17	Hepatocellular(33;0.183)					CAGGATAACAGCAGTTACCCC	0.418000														87			50		0	0	1	0	0
HM13	81502	broad.mit.edu	37	20	30115291	30115291	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:30115291C>A	uc002wwc.3	+	1	302	c.188C>A	c.(187-189)gCt>gAt	p.A63D	HM13_uc002wwd.3_Missense_Mutation_p.A63D|HM13_uc002wwe.3_Missense_Mutation_p.A63D|HM13_uc002wwb.1_Missense_Mutation_p.A63D	NM_178581	NP_848696	Q8TCT9	HM13_HUMAN	Homo sapiens histocompatibility (minor) 13 (HM13), transcript variant 3, mRNA.	63					membrane protein proteolysis	cell surface|endoplasmic reticulum membrane|integral to membrane|plasma membrane	aspartic-type endopeptidase activity|protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(5;3.44e-05)|Lung NSC(7;4.38e-06)|all_lung(7;7.65e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		all cancers(5;0.000479)|Colorectal(19;0.00202)|COAD - Colon adenocarcinoma(19;0.0264)			CTCTAGAATGCTTCAGACATG	0.527000														77			10		0.000673444	0.000715966	1	1	0
OVOL2	58495	broad.mit.edu	37	20	18005549	18005549	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:18005549G>A	uc002wqi.1	-	3	802	c.559C>T	c.(559-561)Cgc>Tgc	p.R187C		NM_021220	NP_067043	Q9BRP0	OVOL2_HUMAN	Homo sapiens ovo-like 2 (Drosophila) (OVOL2), mRNA.	187					negative regulation of Notch signaling pathway|negative regulation of keratinocyte differentiation|negative regulation of transcription by competitive promoter binding|regulation of cell cycle|regulation of keratinocyte proliferation|transcription, DNA-dependent	nucleus	DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(3)	6						AGAGAGCAGCGCTGGGTGAAG	0.552000														56			9		0	0	1	0	0
HNRNPM	4670	broad.mit.edu	37	19	8528381	8528381	+	Splice_Site	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:8528381G>A	uc010dwe.3	+	4	417	c.337_splice	c.e4-1	p.G113_splice	HNRNPM_uc010dwc.1_Splice_Site_p.G113_splice|HNRNPM_uc010xke.1_Splice_Site_p.G113_splice|HNRNPM_uc010dwd.3_Splice_Site_p.G113_splice|HNRNPM_uc002mka.3_5'Flank	NM_005968	NP_005959	P52272	HNRPM_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein M (HNRNPM), transcript variant 1, mRNA.	113	RRM 1.				alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles	RNA binding|nucleotide binding|protein domain specific binding			endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						TCCTCCAAAGGGATGTGCGTA	0.368000														94			18		0	0	1	0	0
SLC9A3	6550	broad.mit.edu	37	5	479971	479971	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:479971C>T	uc003jbe.2	-	9	1739	c.1627G>A	c.(1627-1629)Gcc>Acc	p.A543T	SLC9A3_uc011clx.1_Missense_Mutation_p.A534T|BC013821_uc011cly.2_Non-coding_Transcript	NM_004174	NP_004165	P48764	SL9A3_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 3 (SLC9A3), mRNA.	543						cell surface|integral to membrane	sodium:hydrogen antiporter activity			NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			TAGCTGATGGCATCCTTCAGG	0.617000														31			27		0	0	1	0	0
CCDC88A	55704	broad.mit.edu	37	2	55523586	55523586	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:55523586C>A	uc002ryv.2	-	29	5738	c.4896G>T	c.(4894-4896)gaG>gaT	p.E1632D	CCDC88A_uc010ypa.1_Missense_Mutation_p.E1632D|CCDC88A_uc010yoz.1_Missense_Mutation_p.E1605D|CCDC88A_uc002ryt.2_5'UTR|CCDC88A_uc010fbw.2_Missense_Mutation_p.E134D|CCDC88A_uc002ryu.2_Missense_Mutation_p.E887D|CCDC88A_uc002rys.3_Missense_Mutation_p.E590D|CCDC88A_uc002ryw.3_Missense_Mutation_p.E916D|CCDC88A_uc010fby.1_Missense_Mutation_p.E484D	NM_001135597	NP_001129069	Q3V6T2	GRDN_HUMAN	Homo sapiens coiled-coil domain containing 88A (CCDC88A), transcript variant 1, mRNA.	1633					DNA replication|TOR signaling cascade|activation of protein kinase B activity|cell migration|cellular membrane organization|lamellipodium assembly|microtubule cytoskeleton organization|regulation of DNA replication|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of neuron projection development	Golgi apparatus|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						TGGACCAAGCCTCATGGTCAT	0.478000														71			8		0.00448238	0.0046769	1	1	0
LCMT1	51451	broad.mit.edu	37	16	25143737	25143737	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:25143737G>A	uc002dnx.1	+	2	378	c.220G>A	c.(220-222)Gtc>Atc	p.V74I	LCMT1_uc002dny.1_Missense_Mutation_p.V74I	NM_016309	NP_057393	Q9UIC8	LCMT1_HUMAN	Homo sapiens leucine carboxyl methyltransferase 1 (LCMT1), transcript variant 1, mRNA.	74							S-adenosylmethionine-dependent methyltransferase activity|protein C-terminal carboxyl O-methyltransferase activity|protein binding								GBM - Glioblastoma multiforme(48;0.0336)	L-Leucine(DB00149)	TTTTGCTCGAGTCCATGGTGT	0.493000														71			7		0	0	1	0	0
CLSTN1	22883	broad.mit.edu	37	1	9815238	9815238	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:9815238G>A	uc001aqh.3	-	3	1133	c.374C>T	c.(373-375)tCa>tTa	p.S125L	CLSTN1_uc001aqi.3_Missense_Mutation_p.S115L|CLSTN1_uc010oag.2_Missense_Mutation_p.S125L	NM_001009566	NP_001009566	O94985	CSTN1_HUMAN	Homo sapiens calsyntenin 1 (CLSTN1), transcript variant 1, mRNA.	125	Cadherin 1.				homophilic cell adhesion	Golgi membrane|cell junction|cell projection|endoplasmic reticulum membrane|integral to membrane|nucleus|postsynaptic membrane	calcium ion binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	36	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		GATGGTGAATGAATAGTCTTT	0.463000														155			9		0	0	1	0	0
PLEKHH2	130271	broad.mit.edu	37	2	43980863	43980863	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:43980863A>C	uc010yny.2	+	24	3842	c.3759A>C	c.(3757-3759)aaA>aaC	p.K1253N		NM_172069	NP_742066	Q8IVE3	PKHH2_HUMAN	Homo sapiens pleckstrin homology domain containing, family H (with MyTH4 domain) member 2 (PLEKHH2), mRNA.	1253	FERM.					cytoplasm|cytoskeleton|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				CTCTGAACAAAGATCTGGCAT	0.328000														75			13		0	0	1	0	0
KCNH2	3757	broad.mit.edu	37	7	150656821	150656821	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:150656821C>A	uc003wic.3	-	2	712	c.311G>T	c.(310-312)aGc>aTc	p.S104I	KCNH2_uc011kux.2_Missense_Mutation_p.S8I|KCNH2_uc003wie.3_Missense_Mutation_p.S104I	NM_000238	NP_000229	Q12809	KCNH2_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 2 (KCNH2), transcript variant 1, mRNA.	104	PAC.				blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	TAGGAAGCAGCTCCCTGCAGA	0.582000														26			8		1.06961e-07	1.2399e-07	1	1	0
CCBE1	147372	broad.mit.edu	37	18	57134065	57134065	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:57134065G>T	uc002lib.3	-	4	529	c.459C>A	c.(457-459)acC>acA	p.T153T		NM_133459	NP_597716	Q6UXH8	CCBE1_HUMAN	Homo sapiens collagen and calcium binding EGF domains 1 (CCBE1), mRNA.	153	EGF-like; calcium-binding (Potential).				lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis	collagen	calcium ion binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3)	24		Colorectal(73;0.175)				AGCTGCCCAAGGTATTGATGC	0.488000														98			8		0.000157383	0.000170012	1	1	0
NIPBL	25836	broad.mit.edu	37	5	36985354	36985354	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:36985354G>A	uc003jkl.4	+	9	2571	c.2072G>A	c.(2071-2073)gGc>gAc	p.G691D	NIPBL_uc003jkk.4_Missense_Mutation_p.G691D|NIPBL_uc003jkm.1_Missense_Mutation_p.G570D	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	Homo sapiens Nipped-B homolog (Drosophila) (NIPBL), transcript variant A, mRNA.	691					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			CAAAATAATGGCAGATCAGAA	0.408000														39			20		0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110476889	110476889	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:110476889G>A	uc003yne.3	+	48	7932	c.7828G>A	c.(7828-7830)Gaa>Aaa	p.E2610K		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	2610					immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.P2609T(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TCCCCTTGGCGAATTTTTTAA	0.443000										HNSCC(38;0.096)				94			18		0	0	1	0	0
ITGB1BP2	26548	broad.mit.edu	37	X	70523713	70523713	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:70523713C>A	uc004dzr.1	+	7	620	c.591C>A	c.(589-591)ttC>ttA	p.F197L	BCYRN1_uc011mpt.1_Intron|ITGB1BP2_uc004dzs.1_Missense_Mutation_p.F179L	NM_012278	NP_036410	Q9UKP3	ITBP2_HUMAN	Homo sapiens integrin beta 1 binding protein (melusin) 2 (ITGB1BP2), mRNA.	197	CHORD 2.|Cys-rich.				muscle organ development|signal transduction		SH3 domain binding			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)	14	Renal(35;0.156)					TTGGGGCATTCTTGGCACAAC	0.478000														17			7		0.00198382	0.00208369	1	1	0
TBX15	6913	broad.mit.edu	37	1	119466177	119466177	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:119466177C>T	uc001ehl.1	-	4	740	c.425G>A	c.(424-426)cGc>cAc	p.R142H		NM_152380	NP_689593	Q96SF7	TBX15_HUMAN	Homo sapiens T-box 15 (TBX15), mRNA.	248						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.R142H(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		GAAGTCTTTGCGAATCACATG	0.453000														39			15		0	0	1	0	0
RNH1	6050	broad.mit.edu	37	11	498076	498076	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:498076C>A	uc001lpk.1	-	6	2430	c.1022G>T	c.(1021-1023)aGg>aTg	p.R341M	RNH1_uc001lpl.1_Missense_Mutation_p.R341M|RNH1_uc001lpm.1_Missense_Mutation_p.R341M|RNH1_uc001lpn.1_Missense_Mutation_p.R341M|RNH1_uc001lpo.1_Missense_Mutation_p.R341M|RNH1_uc001lpp.2_Missense_Mutation_p.R341M|RNH1_uc001lpq.2_Missense_Mutation_p.R341M|RNH1_uc001lpr.2_Missense_Mutation_p.R341M|RNH1_uc001lps.2_Missense_Mutation_p.R341M	NM_203389	NP_976323	P13489	RINI_HUMAN	Homo sapiens ribonuclease/angiogenin inhibitor 1 (RNH1), transcript variant 8, mRNA.	341					mRNA catabolic process|regulation of angiogenesis	angiogenin-PRI complex|cytoplasm	protein binding|ribonuclease inhibitor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.26e-26)|Epithelial(43;1.34e-25)|OV - Ovarian serous cystadenocarcinoma(40;5.31e-20)|BRCA - Breast invasive adenocarcinoma(625;8.01e-05)|Lung(200;0.0378)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CAGGAGAAACCTGTTCTGGGC	0.642000														55			5		0.184627	0.186034	1	1	0
MACF1	23499	broad.mit.edu	37	1	39893657	39893657	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:39893657C>A	uc021olw.1	+	26	11821	c.11821C>A	c.(11821-11823)Cat>Aat	p.H3941N	MACF1_uc021ols.1_Missense_Mutation_p.H3439N|MACF1_uc001cdc.2_Intron|MACF1_uc021olt.1_Missense_Mutation_p.H3439N|MACF1_uc001cda.1_Missense_Mutation_p.H3326N	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	5506					Golgi to plasma membrane protein transport|Wnt receptor signaling pathway|cell cycle arrest|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|wound healing	Golgi apparatus|microtubule|ruffle membrane	ATPase activity|actin filament binding|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CATAGAAAACCATGCAACAGA	0.398000														24			4		0.248553	0.249802	1	1	0
ANGPTL7	10218	broad.mit.edu	37	1	11249979	11249979	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:11249979C>T	uc001ase.3	+	0	582	c.343C>T	c.(343-345)Cag>Tag	p.Q115*	MTOR_uc001asd.3_Intron	NM_021146	NP_066969	O43827	ANGL7_HUMAN	Homo sapiens angiopoietin-like 7 (ANGPTL7), mRNA.	115					response to oxidative stress|signal transduction	extracellular region	receptor binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(2)|stomach(1)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.39e-06)|COAD - Colon adenocarcinoma(227;0.000244)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0487)		CATGCAGCTGCAGGCAGCACA	0.562000														21			21		0	0	1	0	0
CASP5	838	broad.mit.edu	37	11	104869616	104869616	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:104869616T>C	uc010ruz.1	-	6	1163	c.1131A>G	c.(1129-1131)acA>acG	p.T377T	CASP5_uc010rva.1_Silent_p.T364T|CASP5_uc010rvb.1_Silent_p.T306T|CASP5_uc010rvc.1_Silent_p.T222T|CASP5_uc009yxh.2_Silent_p.T146T|CASP5_uc010rvd.1_Silent_p.T146T	NM_001136112	NP_001129584	P51878	CASP5_HUMAN	Homo sapiens caspase 5, apoptosis-related cysteine peptidase (CASP5), transcript variant f, mRNA.	364					apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis	intracellular	cysteine-type endopeptidase activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		ACATACGTGGTGTTGAAGAAC	0.443000														102			7		0	0	1	0	0
OR52E2	119678	broad.mit.edu	37	11	5080122	5080122	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:5080122C>T	uc010qyw.2	-	0	736	c.736G>A	c.(736-738)Gtg>Atg	p.V246M		NM_001005164	NP_001005164	Q8NGJ4	O52E2_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily E, member 2 (OR52E2), mRNA.	246					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(13)|ovary(2)|skin(3)	20		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)		ATTACACACACATGTGAACCA	0.463000														35			5		0	0	1	0	0
VWA7	80737	broad.mit.edu	37	6	31734049	31734049	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31734049C>T	uc011dog.2	-	14	2535	c.2297G>A	c.(2296-2298)aGc>aAc	p.S766N	VWA7_uc003nxd.2_Missense_Mutation_p.S441N	NM_025258	NP_079534	Q9Y334	G7C_HUMAN	Homo sapiens von Willebrand factor A domain containing 7 (VWA7), mRNA.	766						extracellular region											GAGGGAGAAGCTGGGGTTGAC	0.612000														12			7		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	107283020	107283020	+	RNA	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:107283020G>A	uc021ser.1	-	0		c.66C>T								Parts of antibodies, mostly variable regions.																		CAGAAGCCTTGCAGGAGACCT	0.577000														106			14		0	0	1	0	0
SERPINI2	5276	broad.mit.edu	37	3	167189515	167189515	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:167189515C>A	uc003fes.1	-	1	209	c.138G>T	c.(136-138)gaG>gaT	p.E46D	SERPINI2_uc003fer.1_Missense_Mutation_p.E36D|SERPINI2_uc003fet.1_Missense_Mutation_p.E36D	NM_006217	NP_006208	O75830	SPI2_HUMAN	Homo sapiens serpin peptidase inhibitor, clade I (pancpin), member 2 (SERPINI2), mRNA.	36					cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						ATAAGGAAACCTCTTGATAAA	0.398000														112			18		3.41278e-10	4.10877e-10	1	1	0
GPR97	222487	broad.mit.edu	37	16	57717923	57717923	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:57717923C>A	uc002emh.3	+	8	1064	c.961C>A	c.(961-963)Ctg>Atg	p.L321M	GPR97_uc010vhv.2_Missense_Mutation_p.L201M|GPR97_uc010cdd.3_Intron|GPR97_uc010cde.3_Intron	NM_170776	NP_740746	Q86Y34	GPR97_HUMAN	Homo sapiens G protein-coupled receptor 97 (GPR97), mRNA.	321					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CCTCCTGAATCTGGCCTTCTT	0.592000														83			9		0.000274275	0.000294507	1	1	0
KIAA0895	23366	broad.mit.edu	37	7	36397121	36397121	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:36397121T>G	uc003tfd.2	-	2	308	c.257A>C	c.(256-258)aAa>aCa	p.K86T	KIAA0895_uc003tfc.2_Missense_Mutation_p.K73T|KIAA0895_uc011kax.1_Missense_Mutation_p.K35T|KIAA0895_uc003tfb.2_Missense_Mutation_p.K35T|KIAA0895_uc011kaw.2_5'UTR|KIAA0895_uc003tfe.3_Missense_Mutation_p.K73T|KIAA0895_uc011kay.2_Missense_Mutation_p.K35T	NM_001100425	NP_001093895	Q8NCT3	K0895_HUMAN	Homo sapiens KIAA0895 (KIAA0895), transcript variant 1, mRNA.	86										breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						AATGCTTCTTTTGTTGTCAAT	0.368000														60			5		0	0	1	0	0
MFSD2A	84879	broad.mit.edu	37	1	40432323	40432323	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:40432323C>A	uc001cev.3	+	6	985	c.804C>A	c.(802-804)atC>atA	p.I268I	MFSD2A_uc010ojb.1_Silent_p.I216I|MFSD2A_uc001ceu.3_Silent_p.I255I|MFSD2A_uc010ojc.2_Silent_p.I99I|MFSD2A_uc009vvy.3_Non-coding_Transcript	NM_001136493	NP_001129965	Q8NA29	MFS2A_HUMAN	Homo sapiens major facilitator superfamily domain containing 2A (MFSD2A), transcript variant 1, mRNA.	268					transmembrane transport	endoplasmic reticulum membrane|integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						TCTATATAATCTGTGCTGTCA	0.542000														99			33		1.06647e-15	1.3456e-15	1	1	0
ZC3H3	23144	broad.mit.edu	37	8	144621170	144621170	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:144621170C>T	uc003yyd.2	-	1	396	c.367G>A	c.(367-369)Gtg>Atg	p.V123M		NM_015117	NP_055932	Q8IXZ2	ZC3H3_HUMAN	Homo sapiens zinc finger CCCH-type containing 3 (ZC3H3), mRNA.	123					mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			TTGATGACCACGTTCTGACCC	0.617000														50			33		0	0	1	0	0
GPI	2821	broad.mit.edu	37	19	34890140	34890140	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:34890140C>T	uc002nvf.3	+	15	1585	c.1415C>T	c.(1414-1416)aCa>aTa	p.T472I	GPI_uc010xrv.2_Missense_Mutation_p.T444I|GPI_uc002nvg.2_Missense_Mutation_p.T433I|GPI_uc010xrw.2_Missense_Mutation_p.T405I|GPI_uc002nvi.2_Missense_Mutation_p.T96I	NM_000175	NP_000166	P06744	G6PI_HUMAN	Homo sapiens glucose-6-phosphate isomerase (GPI), transcript variant 2, mRNA.	433			R -> H (in HA-GPID).		angiogenesis|gluconeogenesis|glycolysis|hemostasis|humoral immune response	cytosol|extracellular space|nucleus|plasma membrane	cytokine activity|glucose-6-phosphate isomerase activity|growth factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	25	Esophageal squamous(110;0.162)					TTGGCCCAGACAGAGGCCCTG	0.587000														22			9		0	0	1	0	0
TSIX	9383	broad.mit.edu	37	X	73042564	73042564	+	RNA	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:73042564G>A	uc004ebn.2	+	0		c.30525G>A			XIST_uc004ebm.1_Non-coding_Transcript					Homo sapiens TSIX transcript, XIST antisense RNA (non-protein coding) (TSIX), antisense RNA.																		GCCTTTTGGAGCAGATATATT	0.343000														19			5		0	0	1	0	0
ZNF703	80139	broad.mit.edu	37	8	37555577	37555577	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:37555577C>T	uc003xjy.1	+	1	1355	c.1158C>T	c.(1156-1158)caC>caT	p.H386H		NM_025069	NP_079345	Q9H7S9	ZN703_HUMAN	Homo sapiens zinc finger protein 703 (ZNF703), mRNA.	386	Gly-rich.				adherens junction assembly|mammary gland epithelial cell differentiation|negative regulation of homotypic cell-cell adhesion|negative regulation of transcription, DNA-dependent|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of mammary gland epithelial cell proliferation|regulation of canonical Wnt receptor signaling pathway|regulation of cell cycle|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding		FGFR1/ZNF703(2)	breast(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)	7			BRCA - Breast invasive adenocarcinoma(5;7.93e-25)|LUSC - Lung squamous cell carcinoma(8;1.05e-09)			GAGGTTACCACGGCGCCTCGC	0.736000														4			5		0	0	1	0	0
GFM1	85476	broad.mit.edu	37	3	158366903	158366903	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:158366903G>T	uc003fce.3	+	4	753	c.646G>T	c.(646-648)Gat>Tat	p.D216Y	GFM1_uc003fcd.3_Missense_Mutation_p.D216Y|GFM1_uc003fcg.3_Missense_Mutation_p.D128Y	NM_024996	NP_079272	Q96RP9	EFGM_HUMAN	Homo sapiens G elongation factor, mitochondrial 1 (GFM1), nuclear gene encoding mitochondrial protein, mRNA.	216					mitochondrial translational elongation	mitochondrion	GTP binding|GTPase activity|translation elongation factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|urinary_tract(2)	22			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)			AGGTATTGTAGATCTTATTGA	0.294000														68			41		9.84934e-19	1.26481e-18	1	1	0
SLC13A2	9058	broad.mit.edu	37	17	26820649	26820649	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:26820649C>T	uc010wan.2	+	6	1153	c.1086C>T	c.(1084-1086)tgC>tgT	p.C362C	SLC13A2_uc010wal.1_Silent_p.C270C|SLC13A2_uc010wam.2_Silent_p.C269C|SLC13A2_uc002hbh.3_Silent_p.C313C|SLC13A2_uc010wao.2_Silent_p.C270C|SLC13A2_uc002hbi.3_Silent_p.C242C	NM_001145975	NP_001139447	Q13183	S13A2_HUMAN	Homo sapiens solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2 (SLC13A2), transcript variant 1, mRNA.	313						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)	CAGCCTACTGCGTCATCCAGA	0.607000														26			12		0	0	1	0	0
TEX15	56154	broad.mit.edu	37	8	30700227	30700227	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:30700227C>T	uc003xil.3	-	0	6307	c.6307G>A	c.(6307-6309)Gtt>Att	p.V2103I		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	Homo sapiens testis expressed 15 (TEX15), mRNA.	2103										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)		TGGCACTGAACCAGCTCAGGA	0.358000														48			16		0	0	1	0	0
FAM73A	374986	broad.mit.edu	37	1	78324657	78324657	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:78324657G>T	uc010ork.2	+	8	1063	c.1031G>T	c.(1030-1032)aGc>aTc	p.S344I	FAM73A_uc001dhx.3_Missense_Mutation_p.S344I|FAM73A_uc010orl.2_Missense_Mutation_p.S306I|FAM73A_uc001dhy.1_Missense_Mutation_p.S133I	NM_198549	NP_940951	Q8NAN2	FA73A_HUMAN	Homo sapiens family with sequence similarity 73, member A (FAM73A), mRNA.	344						integral to membrane				breast(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	19				Colorectal(170;0.226)		CATACCTACAGCCTGGAGTCC	0.458000														59			26		6.12954e-19	7.87599e-19	1	1	0
TTC16	158248	broad.mit.edu	37	9	130493506	130493506	+	Missense_Mutation	SNP	T	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:130493506T>A	uc004brq.1	+	13	2511	c.2444T>A	c.(2443-2445)cTc>cAc	p.L815H	TTC16_uc011mai.1_Missense_Mutation_p.L802H|TTC16_uc004brr.1_3'UTR|TTC16_uc010mxn.1_Missense_Mutation_p.L411H	NM_144965	NP_659402	Q8NEE8	TTC16_HUMAN	Homo sapiens tetratricopeptide repeat domain 16 (TTC16), mRNA.	815							binding			central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						AACTGGAGCCTCAGCAAAACT	0.597000														31			15		0	0	1	0	0
MFAP1	4236	broad.mit.edu	37	15	44107158	44107158	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:44107158C>A	uc001zth.1	-	2	598	c.414G>T	c.(412-414)gaG>gaT	p.E138D		NM_005926	NP_005917	P55081	MFAP1_HUMAN	Homo sapiens microfibrillar-associated protein 1 (MFAP1), mRNA.	138	Poly-Glu.					microfibril				breast(2)|endometrium(1)|kidney(1)|lung(6)|skin(2)|upper_aerodigestive_tract(3)	15		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.33e-07)		CATCAATTTCCTCCTCCTCTT	0.408000														85			48		7.34454e-26	9.62715e-26	1	1	0
TDRD7	23424	broad.mit.edu	37	9	100193223	100193223	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:100193223C>T	uc004axj.3	+	2	441	c.216C>T	c.(214-216)tgC>tgT	p.C72C	TDRD7_uc011lux.2_5'UTR	NM_014290	NP_055105	Q8NHU6	TDRD7_HUMAN	Homo sapiens tudor domain containing 7 (TDRD7), mRNA.	72	Lotus/OST-HTH 1.				lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis	chromatoid body	mRNA binding			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Acute lymphoblastic leukemia(62;0.158)				AGATTACCTGCTATGCCATGG	0.448000														95			9		0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1268914	1268914	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:1268914C>T	uc001lta.3	+	30	10863	c.10804C>T	c.(10804-10806)Cgt>Tgt	p.R3602C		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	3602	7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CTCCAACATCCGTGCGGCCGG	0.692000														51			25		0	0	1	0	0
RPS6KC1	26750	broad.mit.edu	37	1	213277798	213277798	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:213277798C>T	uc010ptr.2	+	3	424	c.265C>T	c.(265-267)Cga>Tga	p.R89*	RPS6KC1_uc001hkd.3_Nonsense_Mutation_p.R77*|RPS6KC1_uc010pts.2_5'UTR|RPS6KC1_uc010ptt.2_5'UTR|RPS6KC1_uc010ptu.2_5'UTR|RPS6KC1_uc010ptv.2_5'UTR|RPS6KC1_uc001hke.3_5'UTR	NM_012424	NP_036556	Q96S38	KS6C1_HUMAN	Homo sapiens ribosomal protein S6 kinase, 52kDa, polypeptide 1 (RPS6KC1), transcript variant 1, mRNA.	89	PX.				cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		AATTGTAGGGCGATTTGATGA	0.393000														46			52		0	0	1	0	0
MTHFD1L	25902	broad.mit.edu	37	6	151203944	151203944	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:151203944G>A	uc021zgs.1	+	4	608	c.464G>A	c.(463-465)gGc>gAc	p.G155D	MTHFD1L_uc011een.2_Non-coding_Transcript|MTHFD1L_uc003qob.3_Missense_Mutation_p.G155D|MTHFD1L_uc021zgt.1_Missense_Mutation_p.G89D|MTHFD1L_uc003qoc.3_Missense_Mutation_p.G102D|MTHFD1L_uc003qoa.2_Missense_Mutation_p.G155D|MTHFD1L_uc010kil.2_Non-coding_Transcript	NM_001242767	NP_001229696	Q6UB35	C1TM_HUMAN	Homo sapiens methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like (MTHFD1L), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	155	Methylenetetrahydrofolate dehydrogenase and cyclohydrolase.				folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	29		Ovarian(120;0.128)		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)		AGAGTACATGGCCTTGCCCTT	0.318000														19			8		0	0	1	0	0
TAS2R10	50839	broad.mit.edu	37	12	10978290	10978290	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:10978290A>G	uc001qyy.1	-	0	579	c.579T>C	c.(577-579)tgT>tgC	p.C193C		NM_023921	NP_076410	Q9NYW0	T2R10_HUMAN	Homo sapiens taste receptor, type 2, member 10 (TAS2R10), mRNA.	193					sensory perception of taste	integral to membrane	taste receptor activity			breast(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						TTAAAAAAATACATGTAATTA	0.363000														108			10		0	0	1	0	0
MMP20	9313	broad.mit.edu	37	11	102477310	102477310	+	Silent	SNP	G	A	A	rs145296288		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:102477310G>A	uc001phc.3	-	5	922	c.909C>T	c.(907-909)gaC>gaT	p.D303D		NM_004771	NP_004762	O60882	MMP20_HUMAN	Homo sapiens matrix metallopeptidase 20 (MMP20), mRNA.	303	Hemopexin-like 1.				proteolysis|regulation of enamel mineralization	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|protein binding|zinc ion binding			endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)		TTGTCACAGCGTCAAAGGATG	0.577000														28			14		0	0	1	0	0
CCP110	9738	broad.mit.edu	37	16	19543863	19543863	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:19543863T>C	uc002dgl.4	+	2	514	c.267T>C	c.(265-267)gtT>gtC	p.V89V	CCP110_uc002dgk.4_Silent_p.V89V	NM_001199022	NP_001185951	O43303	CP110_HUMAN	Homo sapiens centriolar coiled coil protein 110kDa (CCP110), transcript variant 1, mRNA.	89	CEP97 binding.				G2/M transition of mitotic cell cycle|centriole replication|regulation of cytokinesis	centriole|cytosol	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|stomach(3)|urinary_tract(1)	21						TTGACAATGTTCAGGTGTGTG	0.333000														88			7		0	0	1	0	0
GRIK1	2897	broad.mit.edu	37	21	30925998	30925998	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:30925998A>G	uc002yno.1	-	16	3099	c.2635T>C	c.(2635-2637)Tgt>Cgt	p.C879R	GRIK1_uc002ynn.3_Intron|GRIK1_uc011acs.2_Intron|GRIK1_uc011act.2_Intron	NM_000830	NP_000821	P39086	GRIK1_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 1 (GRIK1), transcript variant 1, mRNA.	879					central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	GTTTGCTTACATTGCAGTCCA	0.333000														143			13		0	0	1	0	0
C20orf195	79025	broad.mit.edu	37	20	62187669	62187669	+	Missense_Mutation	SNP	C	T	T	rs117659219	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:62187669C>T	uc002yfj.3	+	1	745	c.653C>T	c.(652-654)gCg>gTg	p.A218V	C20orf195_uc021wgc.1_Missense_Mutation_p.A218V	NM_024059	NP_076964	Q9BVV2	CT195_HUMAN	Homo sapiens chromosome 20 open reading frame 195 (C20orf195), mRNA.	218										large_intestine(3)|lung(4)	7	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			AAGGCGTCGGCGGCTCACCAG	0.622000														68			41		0	0	1	0	0
FN1	2335	broad.mit.edu	37	2	216293036	216293036	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:216293036C>A	uc002vfa.3	-	5	977	c.711G>T	c.(709-711)agG>agT	p.R237S	FN1_uc002vfc.3_Missense_Mutation_p.R237S|FN1_uc002vfe.3_Missense_Mutation_p.R237S|FN1_uc002vff.3_Missense_Mutation_p.R237S|FN1_uc002vfg.3_Missense_Mutation_p.R237S|FN1_uc002vfh.3_Missense_Mutation_p.R237S|FN1_uc002vfi.3_Missense_Mutation_p.R237S|FN1_uc002vfj.3_Missense_Mutation_p.R237S|FN1_uc002vfb.3_Missense_Mutation_p.R237S|FN1_uc002vfl.3_Missense_Mutation_p.R237S	NM_212482	NP_997647	P02751	FINC_HUMAN	Homo sapiens fibronectin 1 (FN1), transcript variant 1, mRNA.	237	Fibrin- and heparin-binding 1.|Fibronectin type-I 5.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TATAGGATGTCCTTGTGTCCT	0.468000														37			19		5.26018e-13	6.52578e-13	1	1	0
TBC1D3P5	440419	broad.mit.edu	37	17	25758240	25758240	+	RNA	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:25758240G>A	uc002gzg.3	+	12		c.2674G>A								Homo sapiens TBC1 domain family, member 3 pseudogene 5 (TBC1D3P5), non-coding RNA.																		CCCATTCACAGCTAGGGACAA	0.557000											OREG0024258	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		6			8		0	0	1	0	0
FAT2	2196	broad.mit.edu	37	5	150892037	150892037	+	Missense_Mutation	SNP	C	T	T	rs139222111		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:150892037C>T	uc003lue.4	-	19	11607	c.11594G>A	c.(11593-11595)cGc>cAc	p.R3865H	FAT2_uc003lud.4_Intron	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	3865	Laminin G-like.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AACCATCAGGCGAATGGAAGC	0.582000														39			30		0	0	1	0	0
ZNF709	163051	broad.mit.edu	37	19	12638453	12638453	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:12638453G>A	uc002mty.3	-	3	679	c.469C>T	c.(469-471)Cga>Tga	p.R157*	ZNF709_uc002mtx.4_Intron	NM_144976	NP_659413	Q8N972	ZN709_HUMAN	Homo sapiens zinc finger protein 564 (ZNF564), mRNA.	184					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R157*(1)		large_intestine(3)|upper_aerodigestive_tract(3)	6						TCATGTCTTCGAAAGGATTGA	0.418000														82			10		0	0	1	0	0
TTC3	7267	broad.mit.edu	37	21	38560897	38560897	+	Splice_Site	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:38560897G>A	uc002yvz.3	+	39	5129	c.5024_splice	c.e39+1	p.R1675_splice	TTC3_uc002ywa.3_Splice_Site_p.R1675_splice|TTC3_uc002ywb.3_Splice_Site_p.R1675_splice|TTC3_uc010gnf.3_Splice_Site_p.R1440_splice|TTC3_uc002ywc.3_Splice_Site_p.R1365_splice	NM_001001894	NP_003307	P53804	TTC3_HUMAN	Homo sapiens tetratricopeptide repeat domain 3 (TTC3), transcript variant 2, mRNA.	1675					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				TGATTAGCCGGTATTGCAGTT	0.393000														25			10		0	0	1	0	0
CLDND2	125875	broad.mit.edu	37	19	51871826	51871826	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:51871826C>T	uc002pwi.1	-	0	432	c.6G>A	c.(4-6)ggG>ggA	p.G2G	ETFB_uc002pwh.3_5'Flank	NM_152353	NP_689566	Q8NHS1	CLDN2_HUMAN	Homo sapiens claudin domain containing 2 (CLDND2), mRNA.	2						integral to membrane				endometrium(1)|kidney(1)|large_intestine(2)	4		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000211)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		TCCGCTTCACCCCCATGCCAC	0.672000														11			10		0	0	1	0	0
LCTL	197021	broad.mit.edu	37	15	66855883	66855883	+	Missense_Mutation	SNP	C	T	T	rs142935775		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:66855883C>T	uc002aqc.3	-	3	583	c.451G>A	c.(451-453)Gtg>Atg	p.V151M	LCTL_uc002aqd.4_5'UTR|LCTL_uc010bhw.3_5'UTR	NM_207338	NP_997221	Q6UWM7	LCTL_HUMAN	Homo sapiens lactase-like (LCTL), mRNA.	151					carbohydrate metabolic process	endoplasmic reticulum membrane|integral to membrane	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TGCAAGGTCACGATGGGAGTG	0.527000														22			12		0	0	1	0	0
KIAA0564	23078	broad.mit.edu	37	13	42259287	42259287	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:42259287C>T	uc001uyj.3	-	34	4293	c.4223G>A	c.(4222-4224)aGg>aAg	p.R1408K		NM_015058	NP_055873	A3KMH1	K0564_HUMAN	Homo sapiens KIAA0564 (KIAA0564), transcript variant 1, mRNA.	1408						extracellular region	ATP binding|ATPase activity			endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(19)|lung(15)|ovary(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75		Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969)		TGGAGTCCCCCTTTTCTTCTT	0.398000														34			30		0	0	1	0	0
ANKHD1-EIF4EBP3	404734	broad.mit.edu	37	5	139909249	139909249	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:139909249G>T	uc003lfs.2	+	28	6872	c.6718G>T	c.(6718-6720)Gat>Tat	p.D2240Y	ANKHD1-EIF4EBP3_uc003lfr.3_Missense_Mutation_p.D2240Y|ANKHD1-EIF4EBP3_uc011czh.1_Missense_Mutation_p.D979Y|ANKHD1-EIF4EBP3_uc003lfw.3_Missense_Mutation_p.D878Y|ANKHD1-EIF4EBP3_uc010jfl.3_Missense_Mutation_p.D675Y|ANKHD1-EIF4EBP3_uc003lfx.1_Missense_Mutation_p.D377Y	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	Homo sapiens ANKHD1-EIF4EBP3 readthrough (ANKHD1-EIF4EBP3), mRNA.	2240						cytoplasm|nucleus	RNA binding			breast(1)|endometrium(8)|kidney(6)|large_intestine(14)|lung(17)|ovary(6)|prostate(2)|skin(1)|urinary_tract(2)	57			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGTTGCTACAGATGCCTCTTT	0.502000														110			12		0.0167234	0.0171955	1	1	0
CDRT1	374286	broad.mit.edu	37	17	15532344	15532344	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:15532344T>C	uc002gor.1	-	5	1617	c.1280A>G	c.(1279-1281)cAc>cGc	p.H427R	CDRT1_uc002gow.3_Missense_Mutation_p.H211R|CDRT1_uc002gox.3_Missense_Mutation_p.H427R|CDRT1_uc002goy.3_Missense_Mutation_p.H297R			O95170	CDRT1_HUMAN	Homo sapiens tripartite motif containing 16 (TRIM16), mRNA.	286										endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(2;1.36e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0541)		ATAGTACCTGTGCAGGTACAG	0.597000														13			12		0	0	1	0	0
CYP4F12	66002	broad.mit.edu	37	19	15791247	15791247	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:15791247G>A	uc002nbl.3	+	4	562	c.443G>A	c.(442-444)cGt>cAt	p.R148H	CYP4F12_uc010xoo.2_Missense_Mutation_p.R148H|CYP4F12_uc010xop.2_3'UTR	NM_023944	NP_076433			Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 12 (CYP4F12), mRNA.											NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					AGCCGCCACCGTCGGATGCTG	0.547000														14			5		0	0	1	0	0
EHMT2	10919	broad.mit.edu	37	6	31860293	31860293	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31860293G>A	uc003nxz.1	-	6	765	c.755C>T	c.(754-756)aCg>aTg	p.T252M	EHMT2_uc003nxy.1_Missense_Mutation_p.T43M|EHMT2_uc011don.1_Missense_Mutation_p.T309M|EHMT2_uc003nya.1_Missense_Mutation_p.T252M	NM_006709	NP_006700	Q96KQ7	EHMT2_HUMAN	Homo sapiens euchromatic histone-lysine N-methyltransferase 2 (EHMT2), transcript variant NG36/G9a, mRNA.	252					DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						GTCCCCTTTCGTCAGGGTCAC	0.542000														37			18		0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	31040088	31040088	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:31040088G>A	uc002nsu.1	+	3	3700	c.3562G>A	c.(3562-3564)Gaa>Aaa	p.E1188K	ZNF536_uc010edd.1_Missense_Mutation_p.E1188K	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	1188					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					AACCGAACCGGAAATGATGAC	0.567000														29			13		0	0	1	0	0
GTF3C1	2975	broad.mit.edu	37	16	27544670	27544670	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:27544670A>C	uc002dov.2	-	4	831	c.791T>G	c.(790-792)gTc>gGc	p.V264G	GTF3C1_uc002dou.3_Missense_Mutation_p.V264G	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 1, alpha 220kDa (GTF3C1), mRNA.	264						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						GCTCAGCATGACCGAAAGCTT	0.522000														63			11		0	0	1	0	0
NMNAT3	349565	broad.mit.edu	37	3	139280028	139280028	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:139280028G>A	uc003etj.3	-	3	623	c.583C>T	c.(583-585)Cct>Tct	p.P195S	NMNAT3_uc010hul.3_Missense_Mutation_p.P106S|NMNAT3_uc003etk.3_Missense_Mutation_p.P158S|NMNAT3_uc003etl.3_Non-coding_Transcript	NM_178177	NP_835471	Q96T66	NMNA3_HUMAN	Homo sapiens nicotinamide nucleotide adenylyltransferase 3 (NMNAT3), transcript variant 1, mRNA.	195					water-soluble vitamin metabolic process	cytosol|mitochondrion	ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)	9						TTCTGCACAGGCTCCTTGGCC	0.542000														33			28		0	0	1	0	0
RGL3	57139	broad.mit.edu	37	19	11505135	11505135	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:11505135G>T	uc002mro.2	-	18	2158	c.2094C>A	c.(2092-2094)gaC>gaA	p.D698E	RGL3_uc002mrn.2_Intron|RGL3_uc002mrm.2_Intron|RGL3_uc002mrp.2_Missense_Mutation_p.D692E	NM_001161616	NP_001155088	Q3MIN7	RGL3_HUMAN	Homo sapiens ral guanine nucleotide dissociation stimulator-like 3 (RGL3), transcript variant 1, mRNA.	692	Interaction with HRAS, MRAS and RIT1 (By similarity).|Ras-associating.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular				breast(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)|skin(1)	18						GCAGCATGAAGTCTCTGGGGG	0.572000														30			13		1.37285e-15	1.73089e-15	1	1	0
RALGAPA1	253959	broad.mit.edu	37	14	36217958	36217958	+	Nonsense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:36217958C>A	uc001wtj.3	-	9	1475	c.1084G>T	c.(1084-1086)Gaa>Taa	p.E362*	RALGAPA1_uc001wti.3_Nonsense_Mutation_p.E362*|RALGAPA1_uc010tpv.2_Nonsense_Mutation_p.E362*|RALGAPA1_uc010tpw.1_Nonsense_Mutation_p.E362*|RALGAPA1_uc001wtk.1_Nonsense_Mutation_p.E213*	NM_194301	NP_919277	Q6GYQ0	RGPA1_HUMAN	Homo sapiens Ral GTPase activating protein, alpha subunit 1 (catalytic) (RALGAPA1), transcript variant 2, mRNA.	362					activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	Ral GTPase activator activity|protein heterodimerization activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TGTTCGGGTTCTGTAGTTCTG	0.373000														67			39		3.43241e-23	4.46986e-23	1	1	0
NCOR1	9611	broad.mit.edu	37	17	16021243	16021243	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:16021243G>A	uc002gpo.3	-	17	2283	c.2014C>T	c.(2014-2016)Cga>Tga	p.R672*	NCOR1_uc002gpn.3_Nonsense_Mutation_p.R672*|NCOR1_uc002gpp.1_Nonsense_Mutation_p.R563*|NCOR1_uc002gpr.3_Nonsense_Mutation_p.R563*	NM_006311	NP_006302	O75376	NCOR1_HUMAN	Homo sapiens nuclear receptor corepressor 1 (NCOR1), transcript variant 1, mRNA.	672	SANT 2.				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		AGATTGTGTCGCCTTTTATAG	0.373000														66			8		0	0	1	0	0
CLIP1	6249	broad.mit.edu	37	12	122812815	122812815	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:122812815G>A	uc001ucg.2	-	15	3181	c.3026C>T	c.(3025-3027)tCg>tTg	p.S1009L	CLIP1_uc001uch.1_Missense_Mutation_p.S998L|CLIP1_uc001uci.1_Missense_Mutation_p.S963L|CLIP1_uc001ucj.1_Missense_Mutation_p.S584L	NM_001247997	NP_001234926	P30622	CLIP1_HUMAN	Homo sapiens CAP-GLY domain containing linker protein 1 (CLIP1), transcript variant 3, mRNA.	1009					mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		TACCAGGTCCGACAATTTCCT	0.478000														251			162		0	0	1	0	0
SDK1	221935	broad.mit.edu	37	7	4089042	4089042	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:4089042C>A	uc003smx.3	+	17	2804	c.2665C>A	c.(2665-2667)Ctg>Atg	p.L889M	SDK1_uc010kso.3_Missense_Mutation_p.L165M	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	889	Fibronectin type-III 3.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CATTCAGTTCCTGTGGAACCC	0.577000														12			4		0.248553	0.249802	1	1	0
SLC22A9	114571	broad.mit.edu	37	11	63141203	63141203	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:63141203T>C	uc001nww.3	+	2	862	c.594T>C	c.(592-594)atT>atC	p.I198I	SLC22A9_uc001nwx.3_Intron	NM_080866	NP_543142	Q8IVM8	S22A9_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 9 (SLC22A9), mRNA.	198					transmembrane transport	integral to membrane				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						CCTTCCTCATTTACTGCTCAC	0.458000														135			7		0	0	1	0	0
NOP56	10528	broad.mit.edu	37	20	2637823	2637823	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:2637823G>A	uc002wgh.3	+	10	1507	c.1378G>A	c.(1378-1380)Gcg>Acg	p.A460T	NOP56_uc010zpy.2_Non-coding_Transcript|NOP56_uc002wgi.3_Missense_Mutation_p.A294T	NM_006392	NP_006383	O00567	NOP56_HUMAN	Homo sapiens NOP56 ribonucleoprotein homolog (yeast) (NOP56), transcript variant 1, mRNA.	460	Lys-rich.				rRNA processing	box C/D snoRNP complex|pre-snoRNP complex	protein binding|snoRNA binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25						ACTTGCCCTCGCGTCTTCAGA	0.517000														39			32		0	0	1	0	0
PCGF5	84333	broad.mit.edu	37	10	93008308	93008308	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:93008308C>T	uc001khi.3	+	3	664	c.256C>T	c.(256-258)Cta>Tta	p.L86L	PCGF5_uc001khh.3_Silent_p.L86L|PCGF5_uc010qnk.2_Silent_p.L86L	NM_032373	NP_115749	Q86SE9	PCGF5_HUMAN	Homo sapiens polycomb group ring finger 5 (PCGF5), mRNA.	86					regulation of transcription, DNA-dependent|transcription, DNA-dependent	PcG protein complex|centrosome	zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)	12						GGTCCCTGGACTACGAGAACG	0.353000														120			7		0	0	1	0	0
CLASP1	23332	broad.mit.edu	37	2	122273251	122273251	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:122273251G>A	uc002tnc.3	-	6	1024	c.634C>T	c.(634-636)Cca>Tca	p.P212S	CLASP1_uc010yyy.2_Non-coding_Transcript|CLASP1_uc010yyz.2_Missense_Mutation_p.P212S|CLASP1_uc010yza.2_Missense_Mutation_p.P212S|CLASP1_uc021vnl.1_Missense_Mutation_p.P212S|CLASP1_uc010yzc.2_Intron|CLASP1_uc002tng.1_Missense_Mutation_p.P212S	NM_015282	NP_056097	Q7Z460	CLAP1_HUMAN	Homo sapiens cytoplasmic linker associated protein 1 (CLASP1), transcript variant 1, mRNA.	212					G2/M transition of mitotic cell cycle|axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	Golgi apparatus|centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|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)					CGGGACTGTGGCAATCCTTTT	0.423000														25			3		0	0	1	0	0
USP21	27005	broad.mit.edu	37	1	161134625	161134625	+	Splice_Site	SNP	A	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:161134625A>T	uc010pkc.2	+	12	1762	c.1385_splice	c.e12-1	p.H462_splice	USP21_uc010pkd.2_Splice_Site_p.H462_splice|USP21_uc021pbv.1_Splice_Site|PPOX_uc001fyj.2_5'Flank|PPOX_uc001fyg.2_5'Flank|PPOX_uc010pkg.1_5'Flank|PPOX_uc001fyi.2_5'Flank|PPOX_uc010pkh.1_5'Flank	NM_001014443	NP_036607	Q9UK80	UBP21_HUMAN	Homo sapiens ubiquitin specific peptidase 21 (USP21), transcript variant 3, mRNA.	462					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	nucleus	NEDD8-specific protease activity|metal ion binding|protein binding|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|prostate(3)	29	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			CAGGGCTTAGATCTGAATCGA	0.532000														54			21		0	0	1	0	0
SNAP29	9342	broad.mit.edu	37	22	21237800	21237800	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:21237800G>A	uc011ahw.2	+	3	669	c.562G>A	c.(562-564)Gct>Act	p.A188T		NM_004782	NP_004773	O95721	SNP29_HUMAN	Homo sapiens synaptosomal-associated protein, 29kDa (SNAP29), mRNA.	188					cellular membrane fusion|exocytosis|protein transport|vesicle targeting	cell junction|cytoplasm|nucleus|synapse|synaptosome	SNAP receptor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(1)|upper_aerodigestive_tract(1)	9	all_cancers(11;2.77e-25)|all_epithelial(7;8.92e-24)|Lung NSC(8;1.49e-15)|all_lung(8;2.54e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000592)|Lung(15;0.0117)			GAGTACTGATGCTTACCCAAA	0.498000														102			53		0	0	1	0	0
COL7A1	1294	broad.mit.edu	37	3	48629795	48629795	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:48629795C>T	uc003ctz.2	-	7	1083	c.1082G>A	c.(1081-1083)cGg>cAg	p.R361Q		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA.	361	Fibronectin type-III 2.|Nonhelical region (NC1).				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		ACTGAGGACCCGCCATGTCAC	0.632000														8			11		0	0	1	0	0
GRM5	2915	broad.mit.edu	37	11	88242605	88242605	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:88242605G>A	uc001pcq.3	-	8	2994	c.2794C>T	c.(2794-2796)Cgc>Tgc	p.R932C	GRM5_uc009yvm.3_Missense_Mutation_p.R900C	NM_001143831	NP_001137303	P41594	GRM5_HUMAN	Homo sapiens glutamate receptor, metabotropic 5 (GRM5), transcript variant a, mRNA.	932					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	ATGGACAGGCGCTGCCACAGG	0.597000														22			19		0	0	1	0	0
HTR1D	3352	broad.mit.edu	37	1	23520460	23520460	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:23520460G>T	uc001bgn.3	-	0	763	c.253C>A	c.(253-255)Ctc>Atc	p.L85I		NM_000864	NP_000855	P28221	5HT1D_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1D (HTR1D), mRNA.	85					G-protein signaling, coupled to cyclic nucleotide second messenger|intestine smooth muscle contraction|synaptic transmission	integral to plasma membrane	serotonin receptor activity	p.D84N(1)		NS(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185)	Almotriptan(DB00918)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	GAAACCAAGAGGTCGGTGGTG	0.532000														102			9		0.000274275	0.000294507	1	1	0
NLGN2	57555	broad.mit.edu	37	17	7319304	7319304	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7319304G>A	uc002ggt.1	+	5	1585	c.1512G>A	c.(1510-1512)ctG>ctA	p.L504L		NM_020795	NP_065846	Q8NFZ4	NLGN2_HUMAN	Homo sapiens neuroligin 2 (NLGN2), mRNA.	504					cell-cell junction maintenance|neuron cell-cell adhesion|positive regulation of synaptogenesis|regulation of inhibitory postsynaptic membrane potential|synapse assembly	cell surface|integral to plasma membrane|postsynaptic membrane	neurexin binding|receptor activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|prostate(2)|skin(3)	22		Prostate(122;0.157)				GGGATGAACTGCCCTATGTCT	0.597000														46			4		0	0	1	0	0
NAPEPLD	222236	broad.mit.edu	37	7	102760494	102760494	+	Silent	SNP	C	T	T	rs144069186		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:102760494C>T	uc011klj.1	-	2	769	c.690G>A	c.(688-690)tcG>tcA	p.S230S	NAPEPLD_uc003vbd.2_Silent_p.S157S|NAPEPLD_uc003vbc.2_Silent_p.S157S|NAPEPLD_uc003vbe.2_Non-coding_Transcript	NM_198990	NP_945341	Q6IQ20	NAPEP_HUMAN	Homo sapiens N-acyl phosphatidylethanolamine phospholipase D (NAPEPLD), transcript variant 2, mRNA.	157					phospholipid catabolic process	membrane	metal ion binding			endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						CCATGTACTGCGATGGTGAAG	0.493000														122			44		0	0	1	0	0
AADACL4	343066	broad.mit.edu	37	1	12711226	12711226	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:12711226C>T	uc001auf.3	+	1	253	c.253C>T	c.(253-255)Cct>Tct	p.P85S		NM_001013630	NP_001013652	Q5VUY2	ADCL4_HUMAN	Homo sapiens arylacetamide deacetylase-like 4 (AADACL4), mRNA.	85						integral to membrane	carboxylesterase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		TAAAAAGGACCCTGAACTTGT	0.483000														58			32		0	0	1	0	0
MOV10L1	54456	broad.mit.edu	37	22	50552133	50552133	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:50552133A>G	uc003bjj.3	+	5	883	c.800A>G	c.(799-801)aAc>aGc	p.N267S	MOV10L1_uc003bjk.4_Missense_Mutation_p.N267S|MOV10L1_uc011arp.2_Missense_Mutation_p.N247S|MOV10L1_uc011arq.1_Missense_Mutation_p.N28S|MOV10L1_uc010hao.1_5'Flank	NM_018995	NP_061868	Q9BXT6	M10L1_HUMAN	Homo sapiens Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse) (MOV10L1), transcript variant 1, mRNA.	267					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|RNA binding|magnesium ion binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		TTGCTGAAGAACAAAGGTGAT	0.463000														70			10		0	0	1	0	0
CECR1	51816	broad.mit.edu	37	22	17690298	17690298	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:17690298C>T	uc002zmk.1	-	0	482	c.270G>A	c.(268-270)aaG>aaA	p.K90K	CECR1_uc010gqu.1_Silent_p.K90K|CECR1_uc011agi.1_Silent_p.K48K|CECR1_uc011agj.1_Silent_p.K48K	NM_017424	NP_059120	Q9NZK5	CECR1_HUMAN	Homo sapiens cat eye syndrome chromosome region, candidate 1 (CECR1), transcript variant 1, mRNA.	90	Dimerization.				adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process	Golgi apparatus|extracellular space	adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	25		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)				CAATGAGATGCTTGGCCTGGA	0.498000														23			16		0	0	1	0	0
TRBV5-1	28614	broad.mit.edu	37	7	142021229	142021229	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:142021229G>A	uc011krr.1	+	1	394	c.209G>A	c.(208-210)aGt>aAt	p.S70N	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krq.1_Missense_Mutation_p.S70N					SubName: Full=V_segment translation product; Flags: Fragment;																		GAATACTTCAGTGAGACACAG	0.522000														15			29		0	0	1	0	0
RGS19	10287	broad.mit.edu	37	20	62705620	62705620	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:62705620G>A	uc002yhy.3	-	4	606	c.339C>T	c.(337-339)agC>agT	p.S113S	RGS19_uc002yhz.3_Silent_p.S91S|RGS19_uc002yib.3_Silent_p.S113S	NM_005873	NP_001034556	P49795	RGS19_HUMAN	Homo sapiens regulator of G-protein signaling 19 (RGS19), transcript variant 1, mRNA.	113	RGS.				G-protein coupled receptor protein signaling pathway|autophagy|negative regulation of signal transduction|small GTPase mediated signal transduction	Golgi apparatus|membrane fraction|plasma membrane	GTPase activator activity|protein binding|signal transducer activity			lung(1)|prostate(1)|skin(1)	3	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)					TGTTCTCCTCGCTGTACTCTG	0.612000														23			8		0	0	1	0	0
SV2C	22987	broad.mit.edu	37	5	75621360	75621360	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:75621360G>T	uc003kei.1	+	12	2306	c.2172G>T	c.(2170-2172)caG>caT	p.Q724H		NM_014979	NP_055794	Q496J9	SV2C_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2C (SV2C), mRNA.	724					neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		CACGAACCCAGGTTCTGATGT	0.517000														37			27		2.12542e-12	2.62166e-12	1	1	0
RPS6KB2	6199	broad.mit.edu	37	11	67200096	67200096	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:67200096G>T	uc001old.3	+	5	565	c.483G>T	c.(481-483)gaG>gaT	p.E161D	RPS6KB2_uc021qmi.1_5'Flank	NM_003952	NP_003943	Q9UBS0	KS6B2_HUMAN	Homo sapiens ribosomal protein S6 kinase, 70kDa, polypeptide 2 (RPS6KB2), mRNA.	161	Protein kinase.				nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of translational initiation|translation	nucleoplasm	ATP binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|salivary_gland(1)|stomach(2)	25			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			CGCATCTGGAGCGAGAGGGCA	0.567000														75			8		5.18039e-06	5.80246e-06	1	1	0
SLC5A10	125206	broad.mit.edu	37	17	18863864	18863864	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:18863864G>A	uc002gut.1	+	4	393	c.352G>A	c.(352-354)Gtc>Atc	p.V118I	SLC5A10_uc002gur.1_Missense_Mutation_p.V62I|SLC5A10_uc002guu.1_Missense_Mutation_p.V118I|SLC5A10_uc002guv.1_Missense_Mutation_p.V118I|SLC5A10_uc010vyl.1_Missense_Mutation_p.V118I	NM_152351	NP_689564	A0PJK1	SC5AA_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 10 (SLC5A10), transcript variant 1, mRNA.	118					sodium ion transport|transmembrane transport	integral to membrane	transporter activity	p.I117I(2)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3)	24						TTCCCAGATCGTCACCTTACC	0.587000											OREG0024231	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		72			42		0	0	1	0	0
PDCD11	22984	broad.mit.edu	37	10	105176259	105176259	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:105176259T>C	uc001kwy.1	+	12	1617	c.1530T>C	c.(1528-1530)tgT>tgC	p.C510C		NM_014976	NP_055791	Q14690	RRP5_HUMAN	Homo sapiens programmed cell death 11 (PDCD11), mRNA.	510	S1 motif 5.				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		TTTTGCTTTGTGACCCTGAAG	0.488000											OREG0020494	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		98			14		0	0	1	0	0
PKD1	5310	broad.mit.edu	37	16	2153324	2153324	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:2153324C>T	uc002cos.1	-	22	8943	c.8734G>A	c.(8734-8736)Gac>Aac	p.D2912N	TCRBV20S1_uc021tak.1_Intron|PKD1_uc002cot.1_Missense_Mutation_p.D2912N|PKD1_uc010bse.1_Non-coding_Transcript	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	Homo sapiens polycystic kidney disease 1 (autosomal dominant) (PKD1), transcript variant 1, mRNA.	2912					calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TTGCTGCTGTCCAGGGTGACC	0.697000														36			17		0	0	1	0	0
ZNF668	79759	broad.mit.edu	37	16	31075764	31075764	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:31075764G>A	uc021tgt.1	-	2	442	c.86C>T	c.(85-87)gCa>gTa	p.A29V	ZNF668_uc010cag.2_Missense_Mutation_p.A6V|ZNF668_uc010caf.3_Missense_Mutation_p.A6V|ZNF668_uc002eao.3_Missense_Mutation_p.A6V	NM_001172669	NP_078982	Q96K58	ZN668_HUMAN	Homo sapiens zinc finger protein 668 (ZNF668), transcript variant 3, mRNA.	6					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						CCGGGCCTCTGCAGCCTCCAC	0.612000														24			24		0	0	1	0	0
AKAP6	9472	broad.mit.edu	37	14	33292223	33292223	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:33292223G>A	uc001wrq.3	+	12	5374	c.5204G>A	c.(5203-5205)aGc>aAc	p.S1735N		NM_004274	NP_004265	Q13023	AKAP6_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 6 (AKAP6), mRNA.	1735					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)		GTCAATGTCAGCATGATTGTT	0.473000														72			19		0	0	1	0	0
PLCE1	51196	broad.mit.edu	37	10	96006077	96006077	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:96006077C>T	uc001kjk.3	+	7	3429	c.2795C>T	c.(2794-2796)aCg>aTg	p.T932M	PLCE1_uc010qnx.2_Missense_Mutation_p.T932M|PLCE1_uc001kjm.3_Missense_Mutation_p.T624M	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	Homo sapiens phospholipase C, epsilon 1 (PLCE1), transcript variant 1, mRNA.	932					Ras protein signal transduction|activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of cell growth|regulation of smooth muscle contraction	Golgi membrane|cytosol|membrane fraction|plasma membrane	Ras GTPase binding|calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				AGTAGCCTGACGGAAGGGGTC	0.478000														54			38		0	0	1	0	0
DCLRE1A	9937	broad.mit.edu	37	10	115601313	115601313	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:115601313G>A	uc001law.2	-	6	3590	c.2672C>T	c.(2671-2673)gCt>gTt	p.A891V		NM_014881	NP_055696	Q6PJP8	DCR1A_HUMAN	Homo sapiens DNA cross-link repair 1A (DCLRE1A), mRNA.	891					cell division|mitosis	nucleus	hydrolase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1)	31				Epithelial(162;0.0157)|all cancers(201;0.0171)		TAAAACATCAGCAATGGCTAT	0.328000								Other identified genes with known or suspected DNA repair function						54			36		0	0	1	0	0
NAV2	89797	broad.mit.edu	37	11	19954923	19954923	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:19954923C>A	uc010rdm.2	+	7	1563	c.1202C>A	c.(1201-1203)cCt>cAt	p.P401H	NAV2_uc001mpp.3_Missense_Mutation_p.P314H|NAV2_uc001mpr.4_Missense_Mutation_p.P378H|NAV2_uc021qew.1_Missense_Mutation_p.P378H	NM_001244963	NP_001231892	Q8IVL1	NAV2_HUMAN	Homo sapiens neuron navigator 2 (NAV2), transcript variant 5, mRNA.	401						nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						TCGGTCAAGCCTCCTGGGCCT	0.597000														193			14		6.31663e-08	7.34157e-08	1	1	0
ADHFE1	137872	broad.mit.edu	37	8	67369316	67369316	+	Silent	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:67369316T>G	uc003xwb.4	+	11	1111	c.1077T>G	c.(1075-1077)ctT>ctG	p.L359L	ADHFE1_uc003xwd.4_Non-coding_Transcript|ADHFE1_uc003xwc.4_Silent_p.L311L|ADHFE1_uc003xwe.4_Non-coding_Transcript|ADHFE1_uc003xwf.4_Non-coding_Transcript|ADHFE1_uc011les.2_Silent_p.L289L	NM_144650	NP_653251	Q8IWW8	HOT_HUMAN	Homo sapiens alcohol dehydrogenase, iron containing, 1 (ADHFE1), nuclear gene encoding mitochondrial protein, mRNA.	359					2-oxoglutarate metabolic process|molecular hydrogen transport	mitochondrial matrix	hydroxyacid-oxoacid transhydrogenase activity|metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	29		Lung NSC(129;0.197)	Epithelial(68;0.0321)|all cancers(69;0.0751)|BRCA - Breast invasive adenocarcinoma(89;0.0855)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			CCCATGGCCTTTCTGTGGTGC	0.507000														149			16		0	0	1	0	0
SLC16A9	220963	broad.mit.edu	37	10	61413727	61413727	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:61413727T>C	uc010qig.1	-	4	1506	c.1057A>G	c.(1057-1059)Aca>Gca	p.T353A		NM_194298	NP_919274	Q7RTY1	MOT9_HUMAN	Homo sapiens solute carrier family 16, member 9 (monocarboxylic acid transporter 9) (SLC16A9), mRNA.	353					urate metabolic process	integral to membrane|plasma membrane	symporter activity			kidney(3)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	23						CCAACTGCTGTCATAATGCCT	0.378000														40			31		0	0	1	0	0
UBN1	29855	broad.mit.edu	37	16	4925419	4925419	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:4925419C>T	uc002cyb.3	+	14	3347	c.3008C>T	c.(3007-3009)tCg>tTg	p.S1003L	UBN1_uc010uxw.2_Missense_Mutation_p.S1003L|UBN1_uc002cyc.3_Missense_Mutation_p.S1003L	NM_001079514	NP_058632	Q9NPG3	UBN1_HUMAN	Homo sapiens ubinuclein 1 (UBN1), transcript variant 2, mRNA.	1003	Ser-rich.				chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						AGTGTGACATCGTCTACCTCC	0.597000														56			31		0	0	1	0	0
PKN2	5586	broad.mit.edu	37	1	89270077	89270077	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:89270077C>T	uc001dmn.3	+	8	1627	c.1285C>T	c.(1285-1287)Cgt>Tgt	p.R429C	PKN2_uc010osp.2_Missense_Mutation_p.R413C|PKN2_uc010osq.2_Missense_Mutation_p.R272C|PKN2_uc009wcv.3_Intron|PKN2_uc010osr.2_Missense_Mutation_p.R94C	NM_006256	NP_006247	Q16513	PKN2_HUMAN	Homo sapiens protein kinase N2 (PKN2), mRNA.	429	C2.				signal transduction	cytoplasm	ATP binding|histone deacetylase binding|protein kinase C activity			breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1)	33		Lung NSC(277;0.123)		all cancers(265;0.0136)|Epithelial(280;0.0301)		atCCTAGTCACGTGAACTGGA	0.318000														29			12		0	0	1	0	0
DENND3	22898	broad.mit.edu	37	8	142176404	142176404	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:142176404C>T	uc003yvy.3	+	11	1707	c.1429C>T	c.(1429-1431)Cag>Tag	p.Q477*	DENND3_uc010mep.3_Nonsense_Mutation_p.Q438*|DENND3_uc003yvz.1_Nonsense_Mutation_p.Q161*	NM_014957	NP_055772	A2RUS2	DEND3_HUMAN	Homo sapiens DENN/MADD domain containing 3 (DENND3), mRNA.	477										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			GCCCAACCTGCAGGACATTGC	0.642000														114			10		0	0	1	0	0
TBC1D9	23158	broad.mit.edu	37	4	141600336	141600336	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:141600336A>G	uc010ioj.3	-	4	883	c.611T>C	c.(610-612)gTa>gCa	p.V204A		NM_015130	NP_055945	Q6ZT07	TBCD9_HUMAN	Homo sapiens TBC1 domain family, member 9 (with GRAM domain) (TBC1D9), mRNA.	204	GRAM 1.					intracellular	Rab GTPase activator activity|calcium ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				AGTGATGTCTACCCACCGGAT	0.488000														54			38		0	0	1	0	0
CYLD	1540	broad.mit.edu	37	16	50785659	50785659	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:50785659G>A	uc021tib.1	+	1	772	c.649G>A	c.(649-651)Gca>Aca	p.A217T	CYLD_uc002egn.1_Missense_Mutation_p.A217T|CYLD_uc002ego.3_Missense_Mutation_p.A217T|CYLD_uc010cbs.1_Missense_Mutation_p.A217T|CYLD_uc002egp.1_Missense_Mutation_p.A217T|CYLD_uc002egq.1_Missense_Mutation_p.A217T|CYLD_uc002egr.1_Missense_Mutation_p.A217T|CYLD_uc002egs.1_Missense_Mutation_p.A217T	NM_015247	NP_056062	Q9NQC7	CYLD_HUMAN	Homo sapiens cylindromatosis (turban tumor syndrome) (CYLD), transcript variant 1, mRNA.	217	Interaction with TRIP.				Wnt receptor signaling pathway|cell cycle|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process	cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome	proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62		all_cancers(37;0.0156)				AAGTGATTACGCAGGTCCTGG	0.418000			"""Mis, N, F, S"""		cylindroma	cylindroma			Multiple Trichoepithelioma, Familial;Familial Cylindromatosis					61			34		0	0	1	0	0
BRAT1	221927	broad.mit.edu	37	7	2581459	2581459	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:2581459C>T	uc003smi.3	-	7	1315	c.1027G>A	c.(1027-1029)Ggg>Agg	p.G343R	BRAT1_uc003smh.4_5'UTR	NM_152743	NP_689956	Q6PJG6	BRAT1_HUMAN	Homo sapiens BRCA1-associated ATM activator 1 (BRAT1), mRNA.	343					response to ionizing radiation	nucleus	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23						TCTGCCGTCCCGTCCAGCAAG	0.672000														6			4		0	0	1	0	0
CEBPE	1053	broad.mit.edu	37	14	23587828	23587828	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:23587828G>A	uc001wiv.2	-	0	993	c.473C>T	c.(472-474)aCt>aTt	p.T158I		NM_001805	NP_001796	Q15744	CEBPE_HUMAN	Homo sapiens CCAAT/enhancer binding protein (C/EBP), epsilon (CEBPE), mRNA.	158						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)	9	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.0064)		TGCTGCCAGAGTTGGGGGCAG	0.682000														13			3		0	0	1	0	0
ZFP42	132625	broad.mit.edu	37	4	188924294	188924294	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:188924294C>T	uc003izh.1	+	3	741	c.333C>T	c.(331-333)ttC>ttT	p.F111F	ZFP42_uc003izi.1_Silent_p.F111F|ZFP42_uc021xvm.1_Silent_p.F111F	NM_174900	NP_777560	Q96MM3	ZFP42_HUMAN	Homo sapiens zinc finger protein 42 homolog (mouse) (ZFP42), mRNA.	111					female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		AAAAGGTTTTCGAAGCAAGCT	0.408000														52			29		0	0	1	0	0
TMEM231	79583	broad.mit.edu	37	16	75573914	75573914	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:75573914A>G	uc002fek.3	-	5	1055	c.1016T>C	c.(1015-1017)tTg>tCg	p.L339S	CHST5_uc002fej.1_Intron|TMEM231_uc002fel.3_Missense_Mutation_p.L194S|TMEM231_uc002fem.3_Missense_Mutation_p.L310S	NM_001077416	NP_001070887	Q9H6L2	TM231_HUMAN	Homo sapiens transmembrane protein 231 (TMEM231), transcript variant 1, mRNA.	310						integral to membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						CTCCTTACACAAGTCTCCCCG	0.483000														15			14		0	0	1	0	0
OR10W1	81341	broad.mit.edu	37	11	58035078	58035078	+	Missense_Mutation	SNP	G	T	T	rs142581541	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:58035078G>T	uc001nmq.1	-	0	655	c.253C>A	c.(253-255)Ctc>Atc	p.L85I		NM_207374	NP_997257	Q8NGF6	O10W1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily W, member 1 (OR10W1), mRNA.	85					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(1)	26		Breast(21;0.0589)				CAGCCCAGGAGAGTGATGGTC	0.537000														24			12		2.27111e-07	2.61452e-07	1	1	0
FER1L5	90342	broad.mit.edu	37	2	97369334	97369334	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:97369334G>A	uc010fia.3	+	49	5874	c.5874G>A	c.(5872-5874)tcG>tcA	p.S1958S	FER1L5_uc002sws.4_Silent_p.S667S|FER1L5_uc010yus.2_Silent_p.S666S	NM_001113382	NP_001106853	A0AVI2	FR1L5_HUMAN	Homo sapiens fer-1-like 5 (C. elegans) (FER1L5), mRNA.	1958						integral to membrane		p.S1958S(2)|p.S1958L(1)		NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	38						GAGGCCAGTCGGAACCCAACC	0.567000														27			6		0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64469558	64469558	+	Nonsense_Mutation	SNP	A	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:64469558A>T	uc001xgl.3	+	29	4137	c.3907A>T	c.(3907-3909)Aaa>Taa	p.K1303*	SYNE2_uc001xgm.3_Nonsense_Mutation_p.K1303*|SYNE2_uc021ruh.1_Nonsense_Mutation_p.K1303*	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	1303					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TATTATACTGAAATACAAAAC	0.388000														51			6		0	0	1	0	0
MSL2	55167	broad.mit.edu	37	3	135870463	135870463	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:135870463G>T	uc003eqx.1	-	1	1993	c.1260C>A	c.(1258-1260)caC>caA	p.H420Q	MSL2_uc011bmb.1_Missense_Mutation_p.H346Q|MSL2_uc021xel.1_Missense_Mutation_p.H346Q	NM_018133	NP_001138889	Q9HCI7	MSL2_HUMAN	Homo sapiens male-specific lethal 2 homolog (Drosophila) (MSL2), transcript variant 1, mRNA.	420	Lys-rich.				histone H4-K16 acetylation	MSL complex	zinc ion binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	18						TGGTTTTAGAGTGAGATTTCT	0.373000														129			9		7.48243e-07	8.52591e-07	1	1	0
MYH7	4625	broad.mit.edu	37	14	23900677	23900677	+	Missense_Mutation	SNP	C	T	T	rs3218713		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:23900677C>T	uc001wjx.3	-	8	852	c.746G>A	c.(745-747)cGa>cAa	p.R249Q		NM_000257	NP_000248	P12883	MYH7_HUMAN	Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA.	249	Myosin head-like.		R -> Q (in CMH1; dbSNP:rs3218713).		adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		AAAATGAATTCGAATGAATTT	0.507000														81			48		0	0	1	0	0
PRKDC	5591	broad.mit.edu	37	8	48749833	48749833	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:48749833G>A	uc003xqi.3	-	57	7755	c.7698C>T	c.(7696-7698)agC>agT	p.S2566S	PRKDC_uc003xqj.3_Silent_p.S2566S	NM_006904	NP_008835	P78527	PRKDC_HUMAN	Homo sapiens protein kinase, DNA-activated, catalytic polypeptide (PRKDC), transcript variant 1, mRNA.	2567	KIP-binding.				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				CTGGGCTCATGCTGGTCATTT	0.403000								Non-homologous end-joining						18			11		0	0	1	0	0
SLC30A5	64924	broad.mit.edu	37	5	68412312	68412312	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:68412312G>T	uc003jvh.3	+	9	1471	c.1164G>T	c.(1162-1164)atG>atT	p.M388I	SLC30A5_uc003jvj.3_Non-coding_Transcript|SLC30A5_uc003jvk.3_Missense_Mutation_p.M117I|SLC30A5_uc003jvi.3_Missense_Mutation_p.M217I	NM_022902	NP_075053	Q8TAD4	ZNT5_HUMAN	Homo sapiens solute carrier family 30 (zinc transporter), member 5 (SLC30A5), transcript variant 1, mRNA.	388					cellular zinc ion homeostasis|cobalt ion transport|regulation of proton transport|response to zinc ion	Golgi apparatus|apical plasma membrane|integral to plasma membrane|membrane fraction|secretory granule membrane	zinc ion binding|zinc ion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Lung NSC(167;0.000986)|Prostate(74;0.00809)|Colorectal(97;0.0508)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)		ATAACTTCATGGGTGATGCTT	0.388000														72			10		4.68919e-08	5.46558e-08	1	1	0
SLC26A8	116369	broad.mit.edu	37	6	35949922	35949922	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:35949922G>A	uc003olm.3	-	7	1112	c.1001C>T	c.(1000-1002)aCg>aTg	p.T334M	SLC26A8_uc003oll.3_Missense_Mutation_p.T229M|SLC26A8_uc003oln.3_Missense_Mutation_p.T334M	NM_001193476	NP_443193	Q96RN1	S26A8_HUMAN	Homo sapiens solute carrier family 26, member 8 (SLC26A8), transcript variant 3, mRNA.	334					cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						GTCAATAAGCGTCTGGCTGGT	0.423000														58			47		0	0	1	0	0
ACAP3	116983	broad.mit.edu	37	1	1235548	1235548	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:1235548A>G	uc001aeb.2	-	6	631	c.557T>C	c.(556-558)aTc>aCc	p.I186T	ACAP3_uc001ady.2_5'Flank|ACAP3_uc001aea.2_Missense_Mutation_p.I144T|ACAP3_uc001aec.1_Missense_Mutation_p.I144T	NM_030649	NP_085152	Q96P50	ACAP3_HUMAN	Homo sapiens ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 (ACAP3), mRNA.	186					filopodium assembly|regulation of ARF GTPase activity|signal transduction		ARF GTPase activator activity|SH3 domain binding|cytoskeletal adaptor activity|zinc ion binding			endometrium(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	14						AGAGTCCAGGATCTCAAACTT	0.652000														24			9		0	0	1	0	0
CA5A	763	broad.mit.edu	37	16	87921757	87921757	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:87921757G>A	uc002fkn.1	-	6	952	c.896C>T	c.(895-897)aCt>aTt	p.T299I		NM_001739	NP_001730	P35218	CAH5A_HUMAN	Homo sapiens carbonic anhydrase VA, mitochondrial (CA5A), nuclear gene encoding mitochondrial protein, mRNA.	299					one-carbon metabolic process	mitochondrial matrix	carbonate dehydratase activity|zinc ion binding			large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(80;0.0513)		GCCCTCATTAGTGGCCTGGAA	0.478000														64			4		0	0	1	0	0
COASY	80347	broad.mit.edu	37	17	40717044	40717044	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:40717044C>T	uc010cyj.3	+	6	1570	c.1368C>T	c.(1366-1368)ggC>ggT	p.G456G	COASY_uc002hzz.3_Silent_p.G427G|COASY_uc002iab.3_Silent_p.G132G|COASY_uc002iad.3_Silent_p.G427G|COASY_uc002iac.3_Silent_p.G427G|COASY_uc002iae.3_Silent_p.G222G|MLX_uc002iaf.3_5'Flank|MLX_uc002iag.3_5'Flank|MLX_uc002iah.3_5'Flank	NM_001042532	NP_079509	Q13057	COASY_HUMAN	Homo sapiens CoA synthase (COASY), nuclear gene encoding mitochondrial protein, transcript variant 4, mRNA.	427	DPCK.				coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial outer membrane	ATP binding|dephospho-CoA kinase activity|pantetheine-phosphate adenylyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	21		all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)		AGGTCCTAGGCAGCCGGGTGT	0.532000														80			8		0	0	1	0	0
MYO7A	4647	broad.mit.edu	37	11	76869430	76869430	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:76869430G>A	uc001oyb.2	+	8	1229	c.957G>A	c.(955-957)tcG>tcA	p.S319S	MYO7A_uc010rsl.2_Silent_p.S319S|MYO7A_uc010rsm.1_Silent_p.S308S|MYO7A_uc001oyc.2_Silent_p.S319S	NM_000260	NP_000251	Q13402	MYO7A_HUMAN	Homo sapiens myosin VIIA (MYO7A), transcript variant 1, mRNA.	319	Myosin head-like.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	ATP binding|actin binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GGGAGATCTCGAAGCTCCTGG	0.632000														26			8		0	0	1	0	0
GCOM1	145781	broad.mit.edu	37	15	57925929	57925929	+	Missense_Mutation	SNP	G	A	A	rs144667495		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:57925929G>A	uc002aei.3	+	7	1054	c.923G>A	c.(922-924)cGc>cAc	p.R308H	GCOM1_uc002aej.3_Missense_Mutation_p.R308H|GCOM1_uc002aek.3_Non-coding_Transcript|GCOM1_uc002ael.3_Non-coding_Transcript|GCOM1_uc002aem.3_Missense_Mutation_p.R308H|GCOM1_uc002aep.3_Non-coding_Transcript|GCOM1_uc010bfx.3_Non-coding_Transcript|GCOM1_uc002aeq.3_Non-coding_Transcript|GCOM1_uc002aen.3_Non-coding_Transcript|GCOM1_uc010bfy.3_Non-coding_Transcript|GCOM1_uc002aeo.3_Missense_Mutation_p.R308H	NM_001018100	NP_001018110	P0CAP1	GCOM1_HUMAN	Homo sapiens myocardial zonula adherens protein (MYZAP), transcript variant 1, mRNA.	308					intracellular signal transduction	I band|extrinsic to internal side of plasma membrane				endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1)	18						CTGATTGAGCGCATGGAAAAG	0.512000														50			17		0	0	1	0	0
MSH6	2956	broad.mit.edu	37	2	48030721	48030721	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:48030721A>G	uc002rwd.4	+	4	3487	c.3335A>G	c.(3334-3336)gAc>gGc	p.D1112G	MSH6_uc010fbj.3_Missense_Mutation_p.D810G|MSH6_uc010yoj.2_Missense_Mutation_p.D810G	NM_000179	NP_000170	P52701	MSH6_HUMAN	Homo sapiens mutS homolog 6 (E. coli) (MSH6), mRNA.	1112					DNA damage response, signal transduction resulting in induction of apoptosis|determination of adult lifespan|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding	p.0?(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			ATTCCTAATGACATTCTAATA	0.438000			"""Mis, N, F, S"""		colorectal	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome					76			9		0	0	1	0	0
ADCY9	115	broad.mit.edu	37	16	4163952	4163952	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:4163952C>T	uc002cvx.3	-	1	2031	c.1492G>A	c.(1492-1494)Ggc>Agc	p.G498S		NM_001116	NP_001107	O60503	ADCY9_HUMAN	Homo sapiens adenylate cyclase 9 (ADCY9), mRNA.	498	Guanylate cyclase 1.				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	ATP binding|adenylate cyclase activity|metal ion binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CCCAGGATGCCGCAAAGGACG	0.562000														84			53		0	0	1	0	0
COPS4	51138	broad.mit.edu	37	4	83984237	83984237	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:83984237C>T	uc003hoa.3	+	6	863	c.724C>T	c.(724-726)Cgt>Tgt	p.R242C	COPS4_uc010ijx.3_Missense_Mutation_p.R242C	NM_016129	NP_057213	Q9BT78	CSN4_HUMAN	Homo sapiens COP9 constitutive photomorphogenic homolog subunit 4 (Arabidopsis) (COPS4), mRNA.	242	PCI.				cullin deneddylation	cytoplasm|signalosome	protein binding			endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(2)	13		Hepatocellular(203;0.114)				AGGGCAGCAGCGTTCTCGGAT	0.378000														54			33		0	0	1	0	0
LGALS9C	654346	broad.mit.edu	37	17	18387258	18387258	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:18387258G>A	uc002gtw.3	+	1	179	c.109G>A	c.(109-111)Gtt>Att	p.V37I	LGALS9C_uc010vyb.2_Intron	NM_001040078	NP_001035167	Q6DKI2	LEG9C_HUMAN	Homo sapiens lectin, galactoside-binding, soluble, 9C (LGALS9C), mRNA.	37	Galectin 1.						sugar binding			NS(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)	7						CAATGGGGCCGTTCTCAGCTG	0.562000														9			41		0	0	1	0	0
FAAH	2166	broad.mit.edu	37	1	46871725	46871725	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:46871725G>T	uc001cpu.2	+	5	883	c.801G>T	c.(799-801)aaG>aaT	p.K267N	FAAH_uc001cpv.2_Intron	NM_001441	NP_001432	O00519	FAAH1_HUMAN	Homo sapiens fatty acid amide hydrolase (FAAH), mRNA.	267					fatty acid catabolic process	cytoplasm|cytoskeleton|endomembrane system|integral to membrane|organelle membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|fatty acid amide hydrolase activity	p.K267M(1)		breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	22	Acute lymphoblastic leukemia(166;0.155)				Propofol(DB00818)|Thiopental(DB00599)	GTGGCCTGAAGGGCTGTGTCT	0.612000											OREG0013458	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		47			25		2.48779e-11	3.03834e-11	1	1	0
PLA2G4C	8605	broad.mit.edu	37	19	48565309	48565309	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:48565309C>T	uc010xzd.2	-	13	1570	c.1233G>A	c.(1231-1233)acG>acA	p.T411T	PLA2G4C_uc002phw.3_Silent_p.T336T|PLA2G4C_uc010elr.3_Silent_p.T401T|PLA2G4C_uc002phx.3_Silent_p.T401T	NM_001159322	NP_001152794	Q9UP65	PA24C_HUMAN	Homo sapiens phospholipase A2, group IVC (cytosolic, calcium-independent) (PLA2G4C), transcript variant 2, mRNA.	401	PLA2c.		D -> N (in dbSNP:rs11564638).		arachidonic acid metabolic process|glycerophospholipid catabolic process|inflammatory response|intracellular signal transduction|parturition	cytosol|membrane	calcium-independent phospholipase A2 activity|phospholipid binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3)	38		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)		GAACCTCCCGCGTCGGGGGCA	0.607000														77			11		0	0	1	0	0
FBN3	84467	broad.mit.edu	37	19	8191660	8191660	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:8191660C>T	uc002mjf.3	-	17	2370	c.2353G>A	c.(2353-2355)Ggc>Agc	p.G785S		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	785	EGF-like 10; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GTGTAGGAGCCGGCCAGGTTC	0.662000														14			8		0	0	1	0	0
SLC25A20	788	broad.mit.edu	37	3	48896032	48896032	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:48896032C>A	uc003cva.4	-	7	950	c.751G>T	c.(751-753)Gat>Tat	p.D251Y	SLC25A20_uc011bbw.2_Missense_Mutation_p.D201Y	NM_000387	NP_000378	O43772	MCAT_HUMAN	Homo sapiens solute carrier family 25 (carnitine/acylcarnitine translocase), member 20 (SLC25A20), nuclear gene encoding mitochondrial protein, mRNA.	251					carnitine shuttle|cellular lipid metabolic process|regulation of fatty acid oxidation	integral to membrane|mitochondrial inner membrane	acyl carnitine transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.000168)|Kidney(197;0.00231)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	L-Carnitine(DB00583)	CTCAGCACATCTCTGAAACCA	0.498000														80			45		1.6237e-14	2.03388e-14	1	1	0
CSMD3	114788	broad.mit.edu	37	8	113347559	113347559	+	Splice_Site	SNP	G	A	A	rs61754528		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:113347559G>A	uc003ynu.3	-	45	7324	c.7165_splice	c.e45+1	p.A2389_splice	CSMD3_uc003yns.3_Splice_Site_p.A1591_splice|CSMD3_uc003ynt.3_Splice_Site_p.A2349_splice|CSMD3_uc011lhx.2_Splice_Site_p.A2285_splice|CSMD3_uc003ynw.1_Splice_Site_p.A100_splice	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	2389	CUB 13.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AATACCAACCGTGATAACTGA	0.333000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				34			4		0	0	1	0	0
RTEL1	51750	broad.mit.edu	37	20	62303918	62303918	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:62303918G>A	uc021wge.1	+	7	879	c.709G>A	c.(709-711)Gca>Aca	p.A237T	RTEL1_uc011abc.2_Non-coding_Transcript|RTEL1_uc002yfu.2_Missense_Mutation_p.A237T|RTEL1_uc011abd.2_Missense_Mutation_p.A261T|RTEL1_uc002yfw.3_Non-coding_Transcript|RTEL1_uc002yfv.2_Missense_Mutation_p.A287T|RTEL1_uc011abe.1_Missense_Mutation_p.A14T	NM_016434	NP_057518	Q9NZ71	RTEL1_HUMAN	Homo sapiens regulator of telomere elongation helicase 1 (RTEL1), transcript variant 1, mRNA.	237	Helicase ATP-binding.				DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			GAGCCGCAGAGCACACAACAT	0.562000														4			3		0	0	1	0	0
BACH2	60468	broad.mit.edu	37	6	90648063	90648063	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:90648063G>A	uc011eab.2	-	7	2717	c.1843C>T	c.(1843-1845)Ctt>Ttt	p.L615F	BACH2_uc003pnw.3_Missense_Mutation_p.L615F	NM_021813	NP_068585	Q9BYV9	BACH2_HUMAN	Homo sapiens BTB and CNC homology 1, basic leucine zipper transcription factor 2 (BACH2), transcript variant 1, mRNA.	615						nucleus	protein dimerization activity|sequence-specific DNA binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		GGAAAAGGAAGTTTTACCTGA	0.353000														30			22		0	0	1	0	0
HECTD3	79654	broad.mit.edu	37	1	45475919	45475919	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:45475919T>C	uc009vxk.3	-	2	675	c.577A>G	c.(577-579)Aga>Gga	p.R193G	HECTD3_uc001cmy.4_5'Flank|HECTD3_uc010olh.2_Intron|UROD_uc010oli.2_5'Flank|UROD_uc001cna.2_5'Flank|UROD_uc001cnb.2_5'Flank|UROD_uc010olj.1_5'Flank	NM_024602	NP_078878	Q5T447	HECD3_HUMAN	Homo sapiens HECT domain containing 3 (HECTD3), mRNA.	193					proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	ubiquitin-protein ligase activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|stomach(1)	28	Acute lymphoblastic leukemia(166;0.155)					GGCTGAGGTCTCGATCCCAGG	0.597000														33			12		0	0	1	0	0
RPL29	6159	broad.mit.edu	37	3	52028026	52028026	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52028026C>T	uc003dcs.3	-	3	313	c.219G>A	c.(217-219)aaG>aaA	p.K73K		NM_000992	NP_000983	P47914	RL29_HUMAN	Homo sapiens ribosomal protein L29 (RPL29), mRNA.	73					embryo implantation|endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	RNA binding|heparin binding|protein binding|structural constituent of ribosome			lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		TTACGAGGGCCTTGATAGCCT	0.547000														35			29		0	0	1	0	0
C1orf63	57035	broad.mit.edu	37	1	25573046	25573046	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:25573046G>A	uc001bjw.3	-	1	661	c.409C>T	c.(409-411)Cag>Tag	p.Q137*	C1orf63_uc021oji.1_Non-coding_Transcript|C1orf63_uc021ojj.1_Non-coding_Transcript	NM_020317	NP_064713	Q9BUV0	CA063_HUMAN	Homo sapiens chromosome 1 open reading frame 63 (C1orf63), mRNA.	137	Arg-rich.									breast(1)|large_intestine(1)|lung(4)|pancreas(1)	7		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.9e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000333)|BRCA - Breast invasive adenocarcinoma(304;0.000443)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000932)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TAGTAGCGCTGTCCCCGCGCG	0.647000														59			11		0	0	1	0	0
ESYT3	83850	broad.mit.edu	37	3	138187662	138187662	+	Splice_Site	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:138187662G>T	uc003esk.3	+	14	1598	c.1372_splice	c.e14-1	p.R458_splice	ESYT3_uc010hug.2_Splice_Site	NM_031913	NP_114119	A0FGR9	ESYT3_HUMAN	Homo sapiens extended synaptotagmin-like protein 3 (ESYT3), mRNA.	458	C2 2.					integral to membrane|plasma membrane				breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						GTGCTGCAGAGAAACCCTTTT	0.468000														171			118		1.1727e-76	1.56546e-76	1	1	0
PINK1	65018	broad.mit.edu	37	1	20964524	20964524	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:20964524G>T	uc001bdm.3	+	1	671	c.577G>T	c.(577-579)Ggg>Tgg	p.G193W		NM_032409	NP_115785	Q9BXM7	PINK1_HUMAN	Homo sapiens PTEN induced putative kinase 1 (PINK1), nuclear gene encoding mitochondrial protein, mRNA.	193	Protein kinase.				cell death|intracellular protein kinase cascade|mitochondrion degradation|peptidyl-serine phosphorylation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of release of cytochrome c from mitochondria|regulation of protein complex assembly|regulation of protein ubiquitination|response to stress	cytosol|integral to membrane|mitochondrial outer membrane	ATP binding|C3HC4-type RING finger domain binding|calcium-dependent protein kinase activity|magnesium ion binding|protein serine/threonine kinase activity|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)	14		all_lung(284;2.72e-05)|Lung NSC(340;2.94e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.21e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000146)|Kidney(64;0.000182)|GBM - Glioblastoma multiforme(114;0.000497)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GTTGCTTCCAGGGAGAGGCCC	0.602000														25			25		4.43304e-23	5.7703e-23	1	1	0
LRFN5	145581	broad.mit.edu	37	14	42360968	42360968	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:42360968C>T	uc001wvm.3	+	3	3099	c.1901C>T	c.(1900-1902)aCt>aTt	p.T634I	LRFN5_uc010ana.3_Intron	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 5 (LRFN5), mRNA.	634						integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		CCTTCCTGGACTTCAAGCACT	0.448000										HNSCC(30;0.082)				23			6		0	0	1	0	0
LEPREL1	55214	broad.mit.edu	37	3	189692442	189692442	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:189692442C>T	uc011bsk.2	-	8	1745	c.1357G>A	c.(1357-1359)Gtc>Atc	p.V453I	LEPREL1_uc003fsg.3_Missense_Mutation_p.V272I	NM_018192	NP_001127890	Q8IVL5	P3H2_HUMAN	Homo sapiens leprecan-like 1 (LEPREL1), transcript variant 1, mRNA.	453					collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation	Golgi apparatus|basement membrane|endoplasmic reticulum	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity	p.V453I(2)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	GAGTTGTAGACGAATGTGATG	0.537000														27			14		0	0	1	0	0
IGFBP5	3488	broad.mit.edu	37	2	217543716	217543716	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:217543716T>C	uc002vgj.4	-	1	1198	c.424A>G	c.(424-426)Acc>Gcc	p.T142A		NM_000599	NP_000590	P24593	IBP5_HUMAN	Homo sapiens insulin-like growth factor binding protein 5 (IGFBP5), mRNA.	142					negative regulation of insulin-like growth factor receptor signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|negative regulation of translation|signal transduction		insulin-like growth factor I binding			endometrium(1)|large_intestine(3)|lung(1)	5		Renal(323;0.0822)		Epithelial(149;2.1e-06)|all cancers(144;0.000165)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GAGATGCGGGTGTGTTTGGGC	0.602000														38			19		0	0	1	0	0
TTLL7	79739	broad.mit.edu	37	1	84417649	84417649	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:84417649T>C	uc001djc.3	-	2	432	c.36A>G	c.(34-36)ggA>ggG	p.G12G	TTLL7_uc001djb.3_Non-coding_Transcript|TTLL7_uc001djd.3_Non-coding_Transcript|TTLL7_uc001dje.3_Non-coding_Transcript|TTLL7_uc001djf.3_Intron|TTLL7_uc001djg.3_Non-coding_Transcript	NM_024686	NP_078962	Q6ZT98	TTLL7_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 7 (TTLL7), mRNA.	12					cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity			kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		GGGGAGAGGGTCCCTGAATAA	0.363000														70			5		0	0	1	0	0
FAM188B	84182	broad.mit.edu	37	7	30951901	30951901	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:30951901G>A	uc003tbv.2	+	0	487	c.377G>A	c.(376-378)cGc>cAc	p.R126H	FAM188B_uc011kac.1_Missense_Mutation_p.R186H	NM_198098	NP_932766	Q4G0A6	F188B_HUMAN	Homo sapiens aquaporin 1 (Colton blood group) (AQP1), transcript variant 1, mRNA.	140								p.R126H(1)		endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TCGCTTGGCCGCAATGACGTG	0.612000														97			28		0	0	1	0	0
MYBPHL	343263	broad.mit.edu	37	1	109838869	109838869	+	Missense_Mutation	SNP	C	T	T	rs143483325		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:109838869C>T	uc001dxk.1	-	5	904	c.854G>A	c.(853-855)cGc>cAc	p.R285H	MYBPHL_uc010ovh.1_Missense_Mutation_p.R262H|MYBPHL_uc001dxl.3_Intron	NM_001010985	NP_001010985	A2RUH7	MBPHL_HUMAN	Homo sapiens myosin binding protein H-like (MYBPHL), mRNA.	285	Ig-like C2-type 2.									central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(2)	14		all_lung(203;0.00519)|all_epithelial(167;0.00575)|Lung NSC(277;0.00822)		Colorectal(144;0.0306)|Lung(183;0.0681)|COAD - Colon adenocarcinoma(174;0.117)|Epithelial(280;0.197)|all cancers(265;0.225)		GGGAGAGGCGCGGACACAGCA	0.577000														126			7		0	0	1	0	0
NRG1	3084	broad.mit.edu	37	8	32453412	32453412	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:32453412G>A	uc003xiv.2	+	1	684	c.167G>A	c.(166-168)cGg>cAg	p.R56Q	NRG1_uc022ats.1_Missense_Mutation_p.R35Q|NRG1_uc003xip.3_Missense_Mutation_p.R271Q|NRG1_uc003xir.3_Missense_Mutation_p.R56Q|NRG1_uc010lvl.3_Missense_Mutation_p.R56Q|NRG1_uc010lvm.3_Missense_Mutation_p.R56Q|NRG1_uc010lvn.3_Missense_Mutation_p.R56Q|NRG1_uc003xis.3_Missense_Mutation_p.R56Q|NRG1_uc011lbf.1_Missense_Mutation_p.R56Q|NRG1_uc010lvo.2_Missense_Mutation_p.R56Q|NRG1_uc003xiu.2_Missense_Mutation_p.R56Q|NRG1_uc003xiw.2_Missense_Mutation_p.R56Q|NRG1_uc003xit.2_Missense_Mutation_p.R56Q|NRG1_uc010lvr.2_5'UTR|NRG1_uc010lvs.2_5'UTR|NRG1_uc010lvp.2_Missense_Mutation_p.R22Q|NRG1_uc010lvq.2_Missense_Mutation_p.R15Q	NM_013964	NP_039258	Q02297	NRG1_HUMAN	Homo sapiens neuregulin 1 (NRG1), transcript variant HRG-alpha, mRNA.	56	Ig-like C2-type.				Notch signaling pathway|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	ErbB-3 class receptor binding|cytokine activity|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		CTAGTCCTTCGGTGTGAAACC	0.398000														78			56		0	0	1	0	0
SLX4	84464	broad.mit.edu	37	16	3645675	3645675	+	Silent	SNP	G	A	A	rs149315267		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:3645675G>A	uc002cvp.2	-	8	2571	c.1944C>T	c.(1942-1944)ggC>ggT	p.G648G		NM_032444	NP_115820	Q8IY92	SLX4_HUMAN	Homo sapiens SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae) (SLX4), mRNA.	648	Interaction with C20orf94, ERCC4 and MSH2.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						GAGGAAGGCCGCCGGGCACCA	0.622000								Direct reversal of damage						32			6		0	0	1	0	0
STIM1	6786	broad.mit.edu	37	11	3988848	3988848	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:3988848G>A	uc021qco.1	+	1	774	c.206G>A	c.(205-207)cGt>cAt	p.R69H	STIM1_uc001lyv.2_Missense_Mutation_p.R69H|STIM1_uc009yef.2_Missense_Mutation_p.R69H	NM_003156	NP_003147	Q13586	STIM1_HUMAN	Homo sapiens stromal interaction molecule 1 (STIM1), mRNA.	69	EF-hand.				activation of store-operated calcium channel activity|calcium ion transport|detection of calcium ion|platelet activation	integral to endoplasmic reticulum membrane|integral to plasma membrane|microtubule	calcium ion binding|microtubule plus-end binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|liver(1)|lung(14)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30		Breast(177;0.00159)|Medulloblastoma(188;0.00258)|all_neural(188;0.0233)		BRCA - Breast invasive adenocarcinoma(625;0.114)|LUSC - Lung squamous cell carcinoma(625;0.141)		GAGGCAGTCCGTAACATCCAC	0.458000														49			35		0	0	1	0	0
MFHAS1	9258	broad.mit.edu	37	8	8748217	8748217	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:8748217C>T	uc003wsj.1	-	0	2915	c.2352G>A	c.(2350-2352)caG>caA	p.Q784Q		NM_004225	NP_004216	Q9Y4C4	MFHA1_HUMAN	Homo sapiens malignant fibrous histiocytoma amplified sequence 1 (MFHAS1), mRNA.	784										endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1)	21		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.124)		ACTGATGGAGCTGGGTGGCCC	0.632000														32			16		0	0	1	0	0
KLHL1	57626	broad.mit.edu	37	13	70314679	70314679	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:70314679A>G	uc001vip.3	-	7	2443	c.1649T>C	c.(1648-1650)gTa>gCa	p.V550A	KLHL1_uc010thm.2_Missense_Mutation_p.V489A	NM_020866	NP_065917	Q9NR64	KLHL1_HUMAN	Homo sapiens kelch-like 1 (Drosophila) (KLHL1), mRNA.	550					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		GCCTTCAAGTACTGTTACACC	0.368000														31			22		0	0	1	0	0
FGFR1	2260	broad.mit.edu	37	8	38285863	38285863	+	Splice_Site	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:38285863C>T	uc022aua.1	-	4	1390	c.448_splice	c.e4+1	p.P150_splice	FGFR1_uc011lbu.2_Intron|FGFR1_uc011lbv.2_Intron|FGFR1_uc011lbw.2_Splice_Site_p.P61_splice|FGFR1_uc003xlp.3_Splice_Site_p.P150_splice|FGFR1_uc022aub.1_Intron|FGFR1_uc022auc.1_Splice_Site_p.P61_splice|FGFR1_uc022aud.1_Intron|FGFR1_uc010lwk.3_Splice_Site_p.P142_splice|FGFR1_uc011lbr.2_Intron|FGFR1_uc011lbs.2_Splice_Site|FGFR1_uc011lbt.1_Intron|FGFR1_uc011lbx.1_Splice_Site_p.P61_splice|FGFR1_uc003xlv.3_Splice_Site_p.P61_splice|FGFR1_uc003xlu.3_Intron|FGFR1_uc003xlw.1_Intron	NM_023110	NP_075598	P11362	FGFR1_HUMAN	Homo sapiens fibroblast growth factor receptor 1 (FGFR1), transcript variant 1, mRNA.	150					MAPKKK cascade|axon guidance|cell growth|insulin receptor signaling pathway|positive regulation of cell proliferation|skeletal system development	extracellular region|integral to plasma membrane|membrane fraction	ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity		FGFR1/ZNF703(2)	breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)	CAGTGTCTCACGCATACGGTT	0.512000		1	T	"""BCR, FOP, ZNF198, CEP1"""	"""MPD, NHL"""		"""Pfeiffer syndrome, Kallman syndrome"""							28			13		0	0	1	0	0
OR13G1	441933	broad.mit.edu	37	1	247836050	247836050	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:247836050G>T	uc001idi.1	-	0	294	c.294C>A	c.(292-294)ctC>ctA	p.L98L		NM_001005487	NP_001005487	Q8NGZ3	O13G1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily G, member 1 (OR13G1), mRNA.	98					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TGAACAAGAAGAGCTGGGACA	0.468000														19			16		2.32078e-09	2.76369e-09	1	1	0
SMAD3	4088	broad.mit.edu	37	15	67477152	67477152	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:67477152G>A	uc002aqj.3	+	6	1257	c.959G>A	c.(958-960)tGt>tAt	p.C320Y	SMAD3_uc010ujr.2_Missense_Mutation_p.C215Y|SMAD3_uc010ujs.2_Missense_Mutation_p.C276Y|SMAD3_uc010ujt.2_Missense_Mutation_p.C125Y	NM_005902	NP_001138576	P84022	SMAD3_HUMAN	Homo sapiens SMAD family member 3 (SMAD3), transcript variant 1, mRNA.	320	MH2.|Sufficient for interaction with XPO4.				SMAD protein complex assembly|activation of caspase activity|cell cycle arrest|cell-cell junction organization|evasion of host defenses by virus|immune response|induction of apoptosis|negative regulation of cell growth|negative regulation of mitotic cell cycle|negative regulation of protein catabolic process|negative regulation of protein phosphorylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|protein stabilization|regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|transforming growth factor beta receptor signaling pathway|transport|wound healing	cytosol|nuclear inner membrane|receptor complex	R-SMAD binding|RNA polymerase II activating transcription factor binding|beta-catenin binding|co-SMAD binding|metal ion binding|protein homodimerization activity|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor binding|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(11)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125)		TCTCCCAACTGTAACCAGCGC	0.592000														59			11		0	0	1	0	0
POLE	5426	broad.mit.edu	37	12	133249410	133249410	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:133249410A>G	uc001uks.1	-	14	1533	c.1489T>C	c.(1489-1491)Tct>Cct	p.S497P	POLE_uc010tbq.1_Non-coding_Transcript|POLE_uc009zyu.1_Missense_Mutation_p.S470P	NM_006231	NP_006222	Q07864	DPOE1_HUMAN	Homo sapiens polymerase (DNA directed), epsilon (POLE), mRNA.	497					DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity|chromatin binding|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		AGAGTGCCAGAGCCCTTCCGC	0.542000								DNA polymerases (catalytic subunits)						15			6		0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152423688	152423688	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:152423688C>A	uc021vrb.1	-	84	13076	c.13047G>T	c.(13045-13047)caG>caT	p.Q4349H	NEB_uc002txr.3_Missense_Mutation_p.Q815H|NEB_uc002txu.3_Missense_Mutation_p.Q6050H|NEB_uc021vrc.1_Missense_Mutation_p.Q6050H|NEB_uc010fnx.3_Missense_Mutation_p.Q4337H|NEB_uc021vrd.1_Missense_Mutation_p.Q4349H	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	4349					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle	p.Q4349Q(2)|p.Q6050Q(1)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TTACATCACTCTGTAGGTCAT	0.398000														98			10		6.40141e-05	6.99953e-05	1	1	0
NDRG4	65009	broad.mit.edu	37	16	58538092	58538092	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:58538092G>T	uc002enm.3	+	4	659	c.318G>T	c.(316-318)gaG>gaT	p.E106D	NDRG4_uc002enk.3_Missense_Mutation_p.E86D|NDRG4_uc010vif.2_Missense_Mutation_p.E86D|NDRG4_uc002eno.3_Missense_Mutation_p.E54D|NDRG4_uc010cdk.3_Missense_Mutation_p.E72D|NDRG4_uc010vig.2_Missense_Mutation_p.E84D|NDRG4_uc010vih.2_5'UTR|NDRG4_uc010vii.2_Missense_Mutation_p.E72D|NDRG4_uc002enp.3_Missense_Mutation_p.E54D|NDRG4_uc002enq.1_5'Flank	NM_001130487	NP_075061	Q9ULP0	NDRG4_HUMAN	Homo sapiens NDRG family member 4 (NDRG4), transcript variant 2, mRNA.	54					cell differentiation|cell growth|multicellular organismal development|response to stress	cytoplasm				breast(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11						TCAACTTCGAGGACATGCAGG	0.577000														118			9		1.76689e-08	2.07166e-08	1	1	0
DSTN	11034	broad.mit.edu	37	20	17587726	17587726	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:17587726C>T	uc002wpr.3	+	3	688	c.433C>T	c.(433-435)Cgg>Tgg	p.R145W	DSTN_uc002wpq.3_Missense_Mutation_p.R128W|DSTN_uc010gck.3_Missense_Mutation_p.R128W	NM_006870	NP_001011546	P60981	DEST_HUMAN	Homo sapiens destrin (actin depolymerizing factor) (DSTN), transcript variant 1, mRNA.	145	ADF-H.				actin filament severing|actin polymerization or depolymerization		actin binding	p.R145L(1)		endometrium(1)|large_intestine(5)|lung(8)|skin(1)	15						AGATCTCAATCGGGCTTGTAT	0.383000														56			37		0	0	1	0	0
CELSR1	9620	broad.mit.edu	37	22	46930126	46930126	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:46930126G>A	uc003bhw.1	-	0	2942	c.2942C>T	c.(2941-2943)gCc>gTc	p.A981V		NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila) (CELSR1), mRNA.	981	Cadherin 7.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		TTCTACCGAGGCGCTAAGGGG	0.567000														37			27		0	0	1	0	0
PHRF1	57661	broad.mit.edu	37	11	607285	607285	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:607285C>T	uc001lqe.3	+	13	1960	c.1829C>T	c.(1828-1830)gCg>gTg	p.A610V	PHRF1_uc010qwc.2_Missense_Mutation_p.A609V|PHRF1_uc010qwd.2_Missense_Mutation_p.A608V|PHRF1_uc010qwe.2_Missense_Mutation_p.A606V|PHRF1_uc009ybz.1_Missense_Mutation_p.A400V|PHRF1_uc009yca.2_Non-coding_Transcript	NM_020901	NP_065952	Q9P1Y6	PHRF1_HUMAN	Homo sapiens PHD and ring finger domains 1 (PHRF1), mRNA.	610							RNA polymerase binding|zinc ion binding			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						GCCCCTGGGGCGGTTCAGGCT	0.667000														45			36		0	0	1	0	0
SLC12A9	56996	broad.mit.edu	37	7	100453411	100453411	+	Missense_Mutation	SNP	G	A	A	rs145345547		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100453411G>A	uc003uwp.3	+	3	542	c.400G>A	c.(400-402)Gtc>Atc	p.V134I	SLC12A9_uc003uwo.1_Intron|SLC12A9_uc003uwq.3_Intron|SLC12A9_uc011kki.2_Intron|SLC12A9_uc003uwr.3_5'UTR|SLC12A9_uc003uws.3_5'UTR|SLC12A9_uc003uwt.3_5'Flank|SLC12A9_uc003uwv.3_5'Flank	NM_020246	NP_064631	Q9BXP2	S12A9_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 9 (SLC12A9), mRNA.	134						integral to membrane|plasma membrane	cation:chloride symporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					TGGCTGTGCCGTCTCCCTCCT	0.622000														86			42		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179396215	179396215	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179396215G>A	uc021vsy.1	-	306	97648	c.97423C>T	c.(97423-97425)Cgc>Tgc	p.R32475C	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.R26170C|TTN_uc021vta.1_Missense_Mutation_p.R26103C|TTN_uc021vtb.1_Missense_Mutation_p.R25978C|TTN_uc002umq.3_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	33402							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)			TCATCTCTGCGTTGGGAAGCA	0.488000														66			36		0	0	1	0	0
MR1	3140	broad.mit.edu	37	1	181019222	181019222	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:181019222C>T	uc001goq.2	+	3	565	c.404C>T	c.(403-405)gCa>gTa	p.A135V	MR1_uc001gor.2_Intron|MR1_uc001gos.2_Missense_Mutation_p.A135V|MR1_uc010pns.2_Missense_Mutation_p.A135V|MR1_uc001gop.3_Missense_Mutation_p.A135V	NM_001531	NP_001522	Q95460	HMR1_HUMAN	Homo sapiens major histocompatibility complex, class I-related (MR1), transcript variant 1, mRNA.	135	Alpha-2.|Ligand-binding.				antigen processing and presentation of peptide antigen via MHC class I|immune response	MHC class I protein complex|endoplasmic reticulum|extracellular region|integral to membrane	MHC class I receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	18						CTGCAGTATGCATATGACGGG	0.512000														80			8		0	0	1	0	0
CPEB4	80315	broad.mit.edu	37	5	173316959	173316959	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:173316959T>G	uc003mcs.4	+	0	1629	c.223T>G	c.(223-225)Ttg>Gtg	p.L75V	CPEB4_uc010jju.2_Missense_Mutation_p.L75V|CPEB4_uc010jjv.3_Missense_Mutation_p.L75V|CPEB4_uc011dfg.2_Missense_Mutation_p.L75V	NM_030627	NP_085130	Q17RY0	CPEB4_HUMAN	Homo sapiens cytoplasmic polyadenylation element binding protein 4 (CPEB4), mRNA.	75							RNA binding|nucleotide binding			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			GGATGAGATCTTGGGGTCAGA	0.478000														142			16		0	0	1	0	0
MEX3D	399664	broad.mit.edu	37	19	1556539	1556539	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:1556539C>T	uc010dsn.3	-	1	979	c.979G>A	c.(979-981)Gtg>Atg	p.V327M	MEX3D_uc021uml.1_Missense_Mutation_p.V327M	NM_203304	NP_976049	Q86XN8	MEX3D_HUMAN	Homo sapiens mex-3 homolog D (C. elegans) (MEX3D), transcript variant 1, mRNA.	327	KH 2.				mRNA destabilization|posttranscriptional regulation of gene expression by mRNA localization|regulation of anti-apoptosis	nucleus|perinuclear region of cytoplasm	AU-rich element binding|zinc ion binding			endometrium(1)|lung(3)	4		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCGCGGTCCACGTTCTCGGGC	0.697000														14			4		0	0	1	0	0
FPGT-TNNI3K	100526835	broad.mit.edu	37	1	74957842	74957842	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:74957842G>A	uc001dge.2	+	24	2613	c.2546G>A	c.(2545-2547)tGc>tAc	p.C849Y	FPGT-TNNI3K_uc001dgf.2_Missense_Mutation_p.C748Y	NM_001112808	NP_001106279	Q59H18	TNI3K_HUMAN	Homo sapiens FPGT-TNNI3K readthrough (FPGT-TNNI3K), transcript variant 1, mRNA.	748						cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding										TCTTCTGATTGCCTGGTGAAC	0.478000														93			63		0	0	1	0	0
TTBK2	146057	broad.mit.edu	37	15	43067672	43067672	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:43067672C>A	uc001zqo.2	-	12	2098	c.1659G>T	c.(1657-1659)gtG>gtT	p.V553V	TTBK2_uc010bcy.2_Silent_p.V484V	NM_173500	NP_775771	Q6IQ55	TTBK2_HUMAN	Homo sapiens tau tubulin kinase 2 (TTBK2), mRNA.	553					cell death		ATP binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		TGTCCACAATCACCCATTCTT	0.468000														50			29		1.68575e-08	1.97895e-08	1	1	0
CDHR2	54825	broad.mit.edu	37	5	176011502	176011502	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:176011502C>A	uc021yie.1	+	18	2494	c.2220C>A	c.(2218-2220)aaC>aaA	p.N740K	CDHR2_uc003mem.2_Missense_Mutation_p.N740K|CDHR2_uc003men.1_Missense_Mutation_p.N740K	NM_001171976	NP_060145	Q9BYE9	CDHR2_HUMAN	Homo sapiens cadherin-related family member 2 (CDHR2), transcript variant 1, mRNA.	740	Cadherin 7.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						GTGGTGCCAACTACTTCATGA	0.642000														68			36		5.59293e-11	6.79972e-11	1	1	0
ZNF577	84765	broad.mit.edu	37	19	52376558	52376558	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:52376558G>T	uc010yde.2	-	6	1076	c.685C>A	c.(685-687)Ctc>Atc	p.L229I	ZNF577_uc010ydd.1_Intron|ZNF577_uc002pxx.4_Missense_Mutation_p.L170I|ZNF577_uc002pxv.3_Missense_Mutation_p.L222I|ZNF577_uc002pxw.3_Missense_Mutation_p.L163I	NM_032679	NP_116068	Q9BSK1	ZN577_HUMAN	Homo sapiens zinc finger protein 577 (ZNF577), transcript variant 1, mRNA.	229					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		TGGACCATGAGCTGTGACTTT	0.498000														20			10		0.000442599	0.000473562	1	1	0
PTPRN2	5799	broad.mit.edu	37	7	157370803	157370803	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:157370803G>A	uc003wno.3	-	17	2647	c.2526C>T	c.(2524-2526)atC>atT	p.I842I	PTPRN2_uc003wnp.3_Silent_p.I825I|PTPRN2_uc003wnq.3_Silent_p.I813I|PTPRN2_uc003wnr.3_Silent_p.I804I|PTPRN2_uc011kwa.2_Silent_p.I865I	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, N polypeptide 2 (PTPRN2), transcript variant 1, mRNA.	842	Tyrosine-protein phosphatase.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		TCAGCATGACGATCACCACGC	0.592000														29			40		0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114158192	114158192	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:114158192C>T	uc003ibe.4	+	5	633	c.533C>T	c.(532-534)gCg>gTg	p.A178V	ANK2_uc003ibd.4_Missense_Mutation_p.A157V|ANK2_uc003ibf.4_Missense_Mutation_p.A178V|ANK2_uc003ibc.2_Missense_Mutation_p.A154V|ANK2_uc011cgb.1_Missense_Mutation_p.A193V	NM_001148	NP_001139	Q01484	ANK2_HUMAN	Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.	178					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	p.A178E(2)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CACAACCAGGCGGTGGCCATC	0.498000														73			36		0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10465764	10465764	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:10465764C>A	uc003wtc.3	-	3	6073	c.5844G>T	c.(5842-5844)caG>caT	p.Q1948H		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	1948					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CTTCTGCCTCCTGGGCCGCCT	0.602000														134			11		0.105934	0.107573	1	1	0
PSMD2	5708	broad.mit.edu	37	3	184026613	184026613	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:184026613C>A	uc003fnn.1	+	20	2695	c.2662C>A	c.(2662-2664)Ctt>Att	p.L888I	PSMD2_uc011brj.1_Missense_Mutation_p.L729I|PSMD2_uc011brk.1_Missense_Mutation_p.L758I	NM_002808	NP_002799	Q13200	PSMD2_HUMAN	Homo sapiens proteasome (prosome, macropain) 26S subunit, non-ATPase, 2 (PSMD2), mRNA.	888					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding	p.L888F(2)		breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|liver(1)|lung(12)|prostate(3)|upper_aerodigestive_tract(2)	27	all_cancers(143;1.54e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Bortezomib(DB00188)	TGAGGAGTTTCTTCCTGTTAC	0.527000											OREG0015948	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		71			53		1.39843e-22	1.81711e-22	1	1	0
HUS1B	135458	broad.mit.edu	37	6	656183	656183	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:656183A>G	uc003mtg.3	-	0	782	c.762T>C	c.(760-762)atT>atC	p.I254I	EXOC2_uc003mtd.3_Intron|EXOC2_uc003mte.3_Intron|EXOC2_uc011dho.2_Intron	NM_148959	NP_683762	Q8NHY5	HUS1B_HUMAN	Homo sapiens HUS1 checkpoint homolog b (S. pombe) (HUS1B), mRNA.	254										endometrium(3)|large_intestine(1)|lung(7)	11	Ovarian(93;0.0733)	Breast(5;0.00139)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.041)|BRCA - Breast invasive adenocarcinoma(62;0.0965)		TATTGTCCCAAATATTGCACA	0.443000														140			15		0	0	1	0	0
STAB1	23166	broad.mit.edu	37	3	52557070	52557070	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52557070G>A	uc003dej.3	+	62	7014	c.6940G>A	c.(6940-6942)Gtg>Atg	p.V2314M	STAB1_uc003dek.1_Missense_Mutation_p.V329M|STAB1_uc003del.3_Missense_Mutation_p.V201M	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	Homo sapiens stabilin 1 (STAB1), mRNA.	2314					cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		AAATGGCTTCGTGGGTGACGG	0.597000														39			33		0	0	1	0	0
ITPR2	3709	broad.mit.edu	37	12	26755303	26755303	+	Splice_Site	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:26755303C>A	uc001rhg.3	-	28	4095	c.3678_splice	c.e28+1	p.K1226_splice		NM_002223	NP_002214	Q14571	ITPR2_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 2 (ITPR2), mRNA.	1226					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					CAGGACTAACCTTTTCATAGG	0.328000														80			9		2.17888e-05	2.40634e-05	1	1	0
BRCA1	672	broad.mit.edu	37	17	41201147	41201147	+	Silent	SNP	G	T	T	rs80359878		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:41201147G>T	uc002icq.3	-	20	5629	c.5397C>A	c.(5395-5397)acC>acA	p.T1799T	BRCA1_uc010whp.2_Silent_p.T648T|BRCA1_uc010whl.2_Silent_p.T695T|BRCA1_uc010whm.2_Silent_p.T109T|BRCA1_uc002icp.4_Silent_p.T1728T|BRCA1_uc002icu.3_Intron|BRCA1_uc010cyx.3_Silent_p.T1752T|BRCA1_uc002ict.3_Silent_p.T1820T|BRCA1_uc010whn.2_Silent_p.T290T|BRCA1_uc010who.2_Silent_p.T17T	NM_007294	NP_009228	P38398	BRCA1_HUMAN	Homo sapiens breast cancer 1, early onset (BRCA1), transcript variant 1, mRNA.	1799	BRCT 2.				DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|G2/M transition DNA damage checkpoint|androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|double-strand break repair via homologous recombination|fatty acid biosynthetic process|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of DNA repair|positive regulation of cell cycle arrest|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of histone acetylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein K6-linked ubiquitination|protein autoubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	RNA binding|androgen receptor binding|identical protein binding|protein binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CTGTGCCAAGGGTGAATGATG	0.473000			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)				26			12		2.80697e-09	3.3309e-09	1	1	0
ZBTB34	403341	broad.mit.edu	37	9	129643140	129643140	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:129643140A>G	uc022bnn.1	+	0	1450	c.1450A>G	c.(1450-1452)Atg>Gtg	p.M484V	ZBTB34_uc004bqm.4_Missense_Mutation_p.M484V	NM_001099270	NP_001092740	Q8NCN2	ZBT34_HUMAN	Homo sapiens zinc finger and BTB domain containing 34 (ZBTB34), mRNA.	484					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12						GGCCTCAGAGATGGGCCTAGA	0.483000														29			7		0	0	1	0	0
TNN	63923	broad.mit.edu	37	1	175054622	175054622	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:175054622G>A	uc001gkl.1	+	5	1429	c.1316G>A	c.(1315-1317)gGc>gAc	p.G439D	TNN_uc010pmx.1_Missense_Mutation_p.G439D	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	Homo sapiens tenascin N (TNN), mRNA.	439	Fibronectin type-III 2.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CTCCTGAATGGCAGGACAGGT	0.517000														6			8		0	0	1	0	0
THRSP	7069	broad.mit.edu	37	11	77775031	77775031	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:77775031G>A	uc021qnu.1	+	0	104	c.104G>A	c.(103-105)aGc>aAc	p.S35N	NDUFC2-KCTD14_uc021qnr.1_Intron|NDUFC2-KCTD14_uc021qns.1_Intron|NDUFC2-KCTD14_uc021qnt.1_Intron|THRSP_uc001oyx.3_Missense_Mutation_p.S35N	NM_003251	NP_003242	Q92748	THRSP_HUMAN	Homo sapiens thyroid hormone responsive (THRSP), mRNA.	35					lipid biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	7	all_cancers(14;2.23e-19)|all_epithelial(13;7.49e-22)|Breast(9;6.38e-17)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;2.15e-25)			ATGATCCCCAGCCTTCTGCGG	0.612000														57			51		0	0	1	0	0
KCNJ16	3773	broad.mit.edu	37	17	68129385	68129385	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:68129385C>A	uc002jiq.3	+	2	1393	c.1253C>A	c.(1252-1254)cCt>cAt	p.P418H	KCNJ16_uc002jin.3_Missense_Mutation_p.P386H|KCNJ16_uc002jio.3_Missense_Mutation_p.P386H|KCNJ16_uc002jip.3_Missense_Mutation_p.P386H|KCNJ16_uc021uch.1_Missense_Mutation_p.P386H	NM_170742	NP_733938	Q9NPI9	IRK16_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 16 (KCNJ16), transcript variant 3, mRNA.	386					synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	32	Breast(10;2.96e-09)					TGTGAAAACCCTGAGGAGACC	0.468000														54			7		0.248553	0.249802	1	1	0
PAQR7	164091	broad.mit.edu	37	1	26189404	26189404	+	Silent	SNP	C	T	T	rs146789461	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:26189404C>T	uc021ojm.1	-	0	927	c.927G>A	c.(925-927)acG>acA	p.T309T	PAQR7_uc001bkx.3_Silent_p.T309T	NM_178422	NP_848509	Q86WK9	MPRA_HUMAN	Homo sapiens progestin and adipoQ receptor family member VII (PAQR7), mRNA.	309					cell differentiation|multicellular organismal development|oogenesis	integral to membrane|plasma membrane	receptor activity|steroid binding			breast(3)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	9		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.16e-25)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000724)|BRCA - Breast invasive adenocarcinoma(304;0.000965)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0136)|READ - Rectum adenocarcinoma(331;0.0649)		GAGGCCAGTGCGTGTGCAGAG	0.577000														33			15		0	0	1	0	0
TRIM40	135644	broad.mit.edu	37	6	30114957	30114957	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:30114957G>A	uc003npk.2	+	3	1023	c.637G>A	c.(637-639)Gcc>Acc	p.A213T	TRIM40_uc003npm.2_Missense_Mutation_p.A184T	NM_138700	NP_619645	Q6P9F5	TRI40_HUMAN	Homo sapiens tripartite motif containing 40 (TRIM40), mRNA.	213						intracellular	zinc ion binding			ovary(1)	1						GGAAAGGACGGCCAAGGAATT	0.572000														86			8		0	0	1	0	0
ZNF532	55205	broad.mit.edu	37	18	56586803	56586803	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:56586803C>T	uc010xeg.2	+	2	1481	c.1284C>T	c.(1282-1284)gtC>gtT	p.V428V	ZNF532_uc002lhp.3_Silent_p.V426V|ZNF532_uc002lho.3_Silent_p.V428V|ZNF532_uc002lhr.3_Silent_p.V426V|ZNF532_uc002lhs.3_Silent_p.V426V	NM_018181	NP_060651	Q9HCE3	ZN532_HUMAN	Homo sapiens zinc finger protein 532 (ZNF532), mRNA.	428					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						AGTCTGCGGTCGTGACCAATG	0.602000														9			5		0	0	1	0	0
ZKSCAN5	23660	broad.mit.edu	37	7	99129118	99129118	+	Missense_Mutation	SNP	G	A	A	rs141273536		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:99129118G>A	uc003uqv.3	+	6	1890	c.1766G>A	c.(1765-1767)cGc>cAc	p.R589H	ZKSCAN5_uc010lfx.3_Missense_Mutation_p.R589H|ZKSCAN5_uc003uqw.3_Missense_Mutation_p.R589H|ZKSCAN5_uc003uqx.3_Missense_Mutation_p.R516H|ZKSCAN5_uc003uqy.3_Missense_Mutation_p.R325H	NM_145102	NP_659570	Q9Y2L8	ZKSC5_HUMAN	Homo sapiens zinc finger with KRAB and SCAN domains 5 (ZKSCAN5), transcript variant 2, mRNA.	589					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.Q588K(2)|p.R589H(2)		breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					TACAACCAACGCGTGCACCTA	0.488000														38			15		0	0	1	0	0
TENC1	23371	broad.mit.edu	37	12	53448969	53448969	+	Splice_Site	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:53448969G>A	uc001sbp.3	+	8	658	c.523_splice	c.e8-1	p.L175_splice	LOC283335_uc001sbk.1_5'Flank|TENC1_uc001sbl.3_Splice_Site_p.L51_splice|TENC1_uc001sbm.3_Splice_Site_p.L185_splice|TENC1_uc001sbn.3_Splice_Site_p.L185_splice|TENC1_uc001sbo.1_Splice_Site_p.L175_splice	NM_170754	NP_938072	Q63HR2	TENC1_HUMAN	Homo sapiens tensin like C1 domain containing phosphatase (tensin 2) (TENC1), transcript variant 2, mRNA.	175	Phosphatase tensin-type.				intracellular signal transduction|negative regulation of cell proliferation	focal adhesion	metal ion binding|phosphoprotein phosphatase activity|protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						CTTTATTTCAGCTCTTCAACC	0.488000														42			22		0	0	1	0	0
SPRED2	200734	broad.mit.edu	37	2	65540818	65540818	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:65540818C>A	uc002sdr.4	-	5	1609	c.1074G>T	c.(1072-1074)gaG>gaT	p.E358D	SPRED2_uc010fcw.3_Missense_Mutation_p.E355D	NM_181784	NP_861449	Q7Z698	SPRE2_HUMAN	Homo sapiens sprouty-related, EVH1 domain containing 2 (SPRED2), transcript variant 1, mRNA.	358	SPR.				inactivation of MAPK activity|multicellular organismal development	transport vesicle membrane	stem cell factor receptor binding	p.P357P(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(7)|ovary(2)|upper_aerodigestive_tract(3)	34						TATAGTCTCCCTCGGGGTCCG	0.582000														28			11		0.000978159	0.00103832	1	1	0
DCAF8L1	139425	broad.mit.edu	37	X	27998474	27998474	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:27998474C>T	uc004dbx.1	-	0	1093	c.978G>A	c.(976-978)gtG>gtA	p.V326V		NM_001017930	NP_001017930	A6NGE4	DC8L1_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 8-like 1 (DCAF8L1), mRNA.	326										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						CTCTTGTTACCACAACTTTTG	0.433000														41			39		0	0	1	0	0
DOCK7	85440	broad.mit.edu	37	1	63005469	63005469	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:63005469G>T	uc001daq.3	-	25	3174	c.3140C>A	c.(3139-3141)gCt>gAt	p.A1047D	DOCK7_uc001dan.3_Missense_Mutation_p.A908D|DOCK7_uc001dao.3_Missense_Mutation_p.A908D|DOCK7_uc001dap.3_Missense_Mutation_p.A1016D|DOCK7_uc001dam.3_Missense_Mutation_p.A227D	NM_033407	NP_212132	Q96N67	DOCK7_HUMAN	Homo sapiens dedicator of cytokinesis 7 (DOCK7), mRNA.	1047					activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|Rac GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						GCTGACAAGAGCTGCAATGTC	0.383000														35			6		2.0095e-06	2.27092e-06	1	1	0
ECE1	1889	broad.mit.edu	37	1	21585273	21585273	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:21585273C>A	uc001bek.2	-	5	750	c.675G>T	c.(673-675)caG>caT	p.Q225H	ECE1_uc001bem.2_Missense_Mutation_p.Q209H|ECE1_uc001bej.2_Missense_Mutation_p.Q213H|ECE1_uc001bei.2_Missense_Mutation_p.Q222H|ECE1_uc010odl.1_Missense_Mutation_p.Q225H|ECE1_uc009vqa.1_Missense_Mutation_p.Q225H	NM_001397	NP_001388	P42892	ECE1_HUMAN	Homo sapiens endothelin converting enzyme 1 (ECE1), transcript variant 1, mRNA.	225					bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process	Weibel-Palade body|early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane	metal ion binding|metalloendopeptidase activity|protein homodimerization activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	25		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)		CGGTGACCACCTGCAGGGTGT	0.602000														47			5		0.0215528	0.0220531	1	1	0
ZNF471	57573	broad.mit.edu	37	19	57029857	57029857	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:57029857G>A	uc002qnh.3	+	3	300	c.167G>A	c.(166-168)tGc>tAc	p.C56Y		NM_020813	NP_065864	Q9BX82	ZN471_HUMAN	Homo sapiens zinc finger protein 471 (ZNF471), mRNA.	56	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0307)		GTAGGTCTTTGCATTTCTAAG	0.398000														10			6		0	0	1	0	0
MCF2L	23263	broad.mit.edu	37	13	113751159	113751159	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:113751159G>A	uc001vsu.3	+	29	3535	c.3535G>A	c.(3535-3537)Gac>Aac	p.D1179N	MCF2L_uc001vsq.3_3'UTR|MCF2L_uc010tjr.2_Missense_Mutation_p.D1122N|MCF2L_uc001vsr.3_Missense_Mutation_p.D1126N|MCF2L_uc010tjs.2_Missense_Mutation_p.D1120N	NM_024979	NP_079255	O15068	MCF2L_HUMAN	Homo sapiens MCF.2 cell line derived transforming sequence-like (MCF2L), transcript variant 2, mRNA.	0					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				CCCCTTCTCCGACCTGCAGGG	0.771000														4			4		0	0	1	0	0
OR2T11	127077	broad.mit.edu	37	1	248789612	248789612	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:248789612G>A	uc001ier.1	-	0	818	c.818C>T	c.(817-819)gCc>gTc	p.A273V		NM_001001964	NP_001001964	Q8NH01	O2T11_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 11 (OR2T11), mRNA.	273					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(5)|lung(20)|skin(2)	28	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)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GGTATAGAAGGCTGACACTAC	0.488000														34			25		0	0	1	0	0
RAB36	9609	broad.mit.edu	37	22	23487629	23487629	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:23487629C>T	uc002zwv.1	+	0	117	c.77C>T	c.(76-78)aCg>aTg	p.T26M	RAB36_uc010gtw.1_Missense_Mutation_p.T26M	NM_004914	NP_004905	O95755	RAB36_HUMAN	Homo sapiens RAB36, member RAS oncogene family (RAB36), mRNA.	26					protein transport|small GTPase mediated signal transduction	Golgi membrane	GTP binding	p.T26K(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.155)		ACGACGTCGACGATTCGTGTA	0.677000														41			19		0	0	1	0	0
TEAD1	7003	broad.mit.edu	37	11	12923603	12923603	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:12923603C>A	uc021qdx.1	+	9	1436	c.816C>A	c.(814-816)ggC>ggA	p.G272G	TEAD1_uc001mkk.4_Silent_p.G176G|TEAD1_uc009ygl.3_Intron	NM_021961	NP_068780	P28347	TEAD1_HUMAN	Homo sapiens TEA domain family member 1 (SV40 transcriptional enhancer factor) (TEAD1), mRNA.	272	Transcriptional activation (Potential).				hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)	17				Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236)		AGAAAGGTGGCTTAAAGGAAC	0.423000														214			20		0.000132079	0.000143489	1	1	0
SOX3	6658	broad.mit.edu	37	X	139586632	139586632	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:139586632C>T	uc004fbd.1	-	0	594	c.594G>A	c.(592-594)gtG>gtA	p.V198V		NM_005634	NP_005625	P41225	SOX3_HUMAN	Homo sapiens SRY (sex determining region Y)-box 3 (SOX3), mRNA.	198					face development|hypothalamus development|negative regulation of neuron differentiation|pituitary gland development|regulation of transcription, DNA-dependent|sensory organ development|sex determination|transcription, DNA-dependent	nucleus	DNA binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	10	Acute lymphoblastic leukemia(192;7.65e-05)					CCTTCATGTGCACGGCGCGAA	0.592000														37			5		0	0	1	0	0
ARHGEF17	9828	broad.mit.edu	37	11	73021058	73021058	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:73021058C>T	uc001otu.3	+	0	1396	c.1375C>T	c.(1375-1377)Cgg>Tgg	p.R459W		NM_014786	NP_055601	Q96PE2	ARHGH_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 17 (ARHGEF17), mRNA.	459					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						GAGTCGACAGCGGAAGTCCCT	0.577000														44			5		0	0	1	0	0
PRAMEF1	65121	broad.mit.edu	37	1	12854399	12854399	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:12854399A>G	uc001auj.2	+	2	726	c.623A>G	c.(622-624)cAa>cGa	p.Q208R		NM_023013	NP_075389	O95521	PRAM1_HUMAN	Homo sapiens PRAME family member 1 (PRAMEF1), mRNA.	208										cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AATAGTATTCAAGAGCTGGAA	0.398000														421			30		0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7643819	7643819	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7643819G>T	uc002giu.1	+	8	1472	c.1458G>T	c.(1456-1458)ccG>ccT	p.P486P	DNAH2_uc002git.3_Silent_p.P568P|DNAH2_uc010vuk.2_Silent_p.P486P	NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	486	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GGGACGTGCCGCACGGCGTGC	0.662000														87			35		6.97489e-18	8.91555e-18	1	1	0
DOCK11	139818	broad.mit.edu	37	X	117752685	117752685	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:117752685G>A	uc004eqp.2	+	30	3528	c.3465G>A	c.(3463-3465)caG>caA	p.Q1155Q	DOCK11_uc004eqq.2_Silent_p.Q934Q	NM_144658	NP_653259	Q5JSL3	DOC11_HUMAN	Homo sapiens dedicator of cytokinesis 11 (DOCK11), mRNA.	1155					blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						CAAGATACCAGCACAAGGTAA	0.338000														40			17		0	0	1	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76350288	76350288	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:76350288G>A	uc002fex.1	+	0	212	c.73G>A	c.(73-75)Gtg>Atg	p.V25M	CNTNAP4_uc002feu.1_Intron|CNTNAP4_uc002fev.1_Intron|CNTNAP4_uc010chb.1_Intron|CNTNAP4_uc002few.2_Intron	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN	Homo sapiens contactin associated protein-like 4 (CNTNAP4), transcript variant 1, mRNA.	0					cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						TAACCCTAACGTGGCATTGTT	0.448000														16			10		0	0	1	0	0
C10orf90	118611	broad.mit.edu	37	10	128118356	128118356	+	Splice_Site	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:128118356C>A	uc010qum.2	-	8	2282	c.2252_splice	c.e8+1	p.R751_splice	C10orf90_uc001ljp.3_Splice_Site_p.R510_splice|C10orf90_uc001ljq.3_Splice_Site_p.R654_splice	NM_001004298	NP_001004298	Q96M02	CJ090_HUMAN	Homo sapiens chromosome 10 open reading frame 90 (C10orf90), mRNA.	654										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		AACCAAGTACCTCTTAGATCG	0.448000														35			23		9.86323e-18	1.25926e-17	1	1	0
ST6GALNAC6	30815	broad.mit.edu	37	9	130653134	130653134	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:130653134G>A	uc004bsp.1	-	4	605	c.486C>T	c.(484-486)ttC>ttT	p.F162F	ST6GALNAC6_uc004bsn.1_Silent_p.F128F|ST6GALNAC6_uc011man.1_Intron|ST6GALNAC6_uc004bso.1_Silent_p.F162F|ST6GALNAC6_uc004bsq.1_Silent_p.F128F|ST6GALNAC6_uc004bsr.2_Silent_p.F128F|ST6GALNAC6_uc010mxp.1_Non-coding_Transcript			Q969X2	SIA7F_HUMAN	Homo sapiens ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1, 3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6 (ST6GALNAC6), mRNA.	162					protein glycosylation	integral to Golgi membrane|plasma membrane				endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						TCAGCACGCGGAACACACTGG	0.602000														17			10		0	0	1	0	0
FLRT1	23769	broad.mit.edu	37	11	63884783	63884783	+	Silent	SNP	C	T	T	rs140908634		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:63884783C>T	uc021qks.1	+	0	1044	c.1044C>T	c.(1042-1044)gcC>gcT	p.A348A	MACROD1_uc001nyh.3_Intron|FLRT1_uc001nyi.1_Silent_p.A348A	NM_013280	NP_037412	Q9NZU1	FLRT1_HUMAN	Homo sapiens fibronectin leucine rich transmembrane protein 1 (FLRT1), mRNA.	320	LRRCT.				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			breast(1)|endometrium(3)|large_intestine(6)|lung(2)|prostate(1)|urinary_tract(1)	14						CACGGGCGGCCGTGGTCAACG	0.627000														26			16		0	0	1	0	0
SH3BP4	23677	broad.mit.edu	37	2	235950399	235950399	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:235950399C>T	uc002vvp.3	+	3	1379	c.986C>T	c.(985-987)gCt>gTt	p.A329V	SH3BP4_uc010fym.3_Missense_Mutation_p.A329V|SH3BP4_uc002vvq.3_Missense_Mutation_p.A329V	NM_014521	NP_055336	Q9P0V3	SH3B4_HUMAN	Homo sapiens SH3-domain binding protein 4 (SH3BP4), mRNA.	329					endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		TCCGGGGGTGCTGTCCAGCTT	0.632000														23			13		0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10253954	10253954	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:10253954T>C	uc002gmk.1	-	11	1153	c.1063A>G	c.(1063-1065)Acg>Gcg	p.T355A	MYH13_uc010vvf.1_Missense_Mutation_p.T30A	NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.	355	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						ACGGCTCCCGTCAGTTTGTAG	0.512000														48			33		0	0	1	0	0
PITPNM3	83394	broad.mit.edu	37	17	6364870	6364870	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:6364870C>A	uc002gdd.4	-	17	2464	c.2313G>T	c.(2311-2313)tgG>tgT	p.W771C	PITPNM3_uc010cln.3_Missense_Mutation_p.W735C|PITPNM3_uc010clm.3_Missense_Mutation_p.W254C|PITPNM3_uc002gdc.4_Missense_Mutation_p.W362C	NM_031220	NP_112497	Q9BZ71	PITM3_HUMAN	Homo sapiens PITPNM family member 3 (PITPNM3), transcript variant 1, mRNA.	771					phosphatidylinositol metabolic process	endomembrane system|integral to membrane	calcium ion binding|lipid binding|phosphatidylinositol transporter activity|receptor tyrosine kinase binding			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(3)|skin(2)	36				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		CCAAGTCCTGCCAGTGCCTGG	0.632000														61			41		6.1244e-12	7.52355e-12	1	1	0
ESPNP	284729	broad.mit.edu	37	1	17029465	17029465	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:17029465G>T	uc001azn.1	-	5	901	c.787C>A	c.(787-789)Ctt>Att	p.L263I						Homo sapiens espin pseudogene (ESPNP), non-coding RNA.																		GTGCTGGAAAGCCCTGGGGAG	0.582000														41			4		0.150653	0.152248	1	1	0
MEGF8	1954	broad.mit.edu	37	19	42840958	42840958	+	Splice_Site	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:42840958G>T	uc002otl.4	+	7	1880	c.1245_splice	c.e7-1	p.R415_splice	MEGF8_uc002otm.4_5'Flank	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN	Homo sapiens multiple EGF-like-domains 8 (MEGF8), mRNA.	415						integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				TCCTTCGGTAGGTTCTCTGTG	0.617000														41			23		3.6726e-16	4.64609e-16	1	1	0
DNAJC6	9829	broad.mit.edu	37	1	65855119	65855119	+	Silent	SNP	G	A	A	rs148673423		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:65855119G>A	uc001dce.1	+	9	1575	c.1374G>A	c.(1372-1374)acG>acA	p.T458T	DNAJC6_uc001dcc.1_Silent_p.T432T|DNAJC6_uc001dcd.1_Silent_p.T401T|DNAJC6_uc010opc.1_Silent_p.T388T	NM_014787	NP_055602	O75061	AUXI_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 6 (DNAJC6), mRNA.	401					cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	SH3 domain binding|heat shock protein binding|protein tyrosine phosphatase activity	p.T401T(1)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						ATCAAGATACGCTGGCCTTAG	0.413000														46			13		0	0	1	0	0
DAK	26007	broad.mit.edu	37	11	61109300	61109300	+	Missense_Mutation	SNP	C	A	A	rs142253953		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:61109300C>A	uc001nre.3	+	6	828	c.571C>A	c.(571-573)Ctg>Atg	p.L191M	DDB1_uc010rlf.1_Intron|DAK_uc009ynm.1_Missense_Mutation_p.L121M	NM_015533	NP_056348	Q3LXA3	DHAK_HUMAN	Homo sapiens dihydroxyacetone kinase 2 homolog (S. cerevisiae) (DAK), mRNA.	191	DhaK.				glycerol metabolic process	cytosol	ATP binding|FAD-AMP lyase (cyclizing) activity|glycerone kinase activity|metal ion binding			NS(1)|breast(3)|endometrium(3)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	23						CATAGGTACCCTGGGGGTGAG	0.592000														150			9		0.00621372	0.00645399	1	1	0
PEX5L	51555	broad.mit.edu	37	3	179576924	179576924	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:179576924G>A	uc003fki.1	-	7	878	c.748C>T	c.(748-750)Cgc>Tgc	p.R250C	PEX5L_uc011bqd.1_Missense_Mutation_p.R207C|PEX5L_uc011bqe.1_Missense_Mutation_p.R58C|PEX5L_uc011bqf.1_Missense_Mutation_p.R142C|PEX5L_uc003fkj.1_Missense_Mutation_p.R215C|PEX5L_uc010hxd.1_Missense_Mutation_p.R248C|PEX5L_uc011bqg.1_Missense_Mutation_p.R226C|PEX5L_uc011bqh.1_Missense_Mutation_p.R191C	NM_016559	NP_057643	Q8IYB4	PEX5R_HUMAN	Homo sapiens peroxisomal biogenesis factor 5-like (PEX5L), mRNA.	250					protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			CTTCCCCAGCGATGTTCTTTG	0.358000														37			20		0	0	1	0	0
MKRN3	7681	broad.mit.edu	37	15	23811803	23811803	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:23811803G>T	uc001ywh.4	+	0	1350	c.874G>T	c.(874-876)Gca>Tca	p.A292S	MKRN3_uc001ywi.3_Intron|MKRN3_uc010ayi.1_Missense_Mutation_p.A292S	NM_005664	NP_005655	Q13064	MKRN3_HUMAN	Homo sapiens makorin ring finger protein 3 (MKRN3), mRNA.	292	Makorin-type Cys-His.					ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		CTGCATTGAAGCACACGAGAA	0.522000														20			19		1.67942e-08	1.97205e-08	1	1	0
RILPL2	196383	broad.mit.edu	37	12	123900468	123900468	+	Splice_Site	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:123900468C>A	uc001uey.1	-	4	903	c.606_splice	c.e4-1	p.L202_splice		NM_145058	NP_659495	Q969X0	RIPL2_HUMAN	Homo sapiens Rab interacting lysosomal protein-like 2 (RILPL2), mRNA.	202						cytosol|plasma membrane	identical protein binding			endometrium(1)|large_intestine(2)|lung(2)|skin(1)	6	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000546)|Epithelial(86;0.00179)|all cancers(50;0.0168)		GAAAAAAGAACCTGGTGTGGA	0.488000														183			106		5.11573e-52	6.82058e-52	1	1	0
ZFP30	22835	broad.mit.edu	37	19	38127090	38127090	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:38127090C>T	uc002ogv.1	-	5	868	c.352G>A	c.(352-354)Gaa>Aaa	p.E118K	ZFP30_uc002ogw.1_Missense_Mutation_p.E118K|ZFP30_uc002ogx.1_Missense_Mutation_p.E118K|ZFP30_uc010xtt.1_Missense_Mutation_p.E117K	NM_014898	NP_055713	Q9Y2G7	ZFP30_HUMAN	Homo sapiens zinc finger protein 30 homolog (mouse) (ZFP30), mRNA.	118					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	21			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGAGGACTTTCTTGTTCTTCA	0.358000														39			34		0	0	1	0	0
NOS1AP	9722	broad.mit.edu	37	1	162270451	162270451	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:162270451C>T	uc001gbv.2	+	3	686	c.299C>T	c.(298-300)aCg>aTg	p.T100M	NOS1AP_uc010pkr.1_Missense_Mutation_p.T95M|NOS1AP_uc001gbw.2_Missense_Mutation_p.T95M|NOS1AP_uc010pks.1_Non-coding_Transcript	NM_014697	NP_055512	O75052	CAPON_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) adaptor protein (NOS1AP), transcript variant 1, mRNA.	100	PID.				regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		PDZ domain binding|nitric-oxide synthase binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			AAGGAATGGACGTGGGATGAG	0.498000														55			37		0	0	1	0	0
CALU	813	broad.mit.edu	37	7	128409143	128409143	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:128409143C>T	uc022ald.1	+	7	1837	c.894C>T	c.(892-894)atC>atT	p.I298I	CALU_uc022alg.1_Silent_p.I216I|CALU_uc022alh.1_Silent_p.I216I|CALU_uc022ali.1_Silent_p.I138I|CALU_uc003vns.3_Silent_p.I290I|CALU_uc003vnr.3_Silent_p.I298I|CALU_uc003vnq.3_Silent_p.I290I|CALU_uc022ale.1_Missense_Mutation_p.R224C|CALU_uc022alf.1_Silent_p.I139I	NM_001199672	NP_001186601	O43852	CALU_HUMAN	Homo sapiens calumenin (CALU), transcript variant 4, mRNA.	290	EF-hand 6.				platelet activation|platelet degranulation	Golgi apparatus|extracellular region|melanosome|sarcoplasmic reticulum lumen	calcium ion binding|protein binding			kidney(2)|large_intestine(3)|lung(5)	10						AGGAGGAGATCGTTGACAAGT	0.423000														36			8		0	0	1	0	0
GAK	2580	broad.mit.edu	37	4	845717	845717	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:845717G>A	uc003gbm.4	-	24	3528	c.3329C>T	c.(3328-3330)gCc>gTc	p.A1110V	GAK_uc003gbn.4_Missense_Mutation_p.A1031V|GAK_uc010ibj.3_Non-coding_Transcript|GAK_uc003gbl.4_Missense_Mutation_p.A963V	NM_005255	NP_005246	O14976	GAK_HUMAN	Homo sapiens cyclin G associated kinase (GAK), mRNA.	1110					cell cycle	Golgi apparatus|focal adhesion|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		GGGCGTGGTGGCCGTTTTGGG	0.642000														17			9		0	0	1	0	0
NPBWR2	2832	broad.mit.edu	37	20	62737922	62737922	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:62737922G>A	uc011abt.2	-	0	263	c.263C>T	c.(262-264)gCc>gTc	p.A88V		NM_005286	NP_005277	P48146	NPBW2_HUMAN	Homo sapiens neuropeptides B/W receptor 2 (NPBWR2), mRNA.	88						plasma membrane	opioid receptor activity|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09)					GTCGGCGACGGCCAGGTTCAG	0.612000														12			8		0	0	1	0	0
ZNF281	23528	broad.mit.edu	37	1	200377356	200377356	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:200377356T>G	uc001gve.3	-	1	1585	c.1478A>C	c.(1477-1479)aAa>aCa	p.K493T	ZNF281_uc001gvf.1_Missense_Mutation_p.K493T|ZNF281_uc001gvg.1_Missense_Mutation_p.K457T|ZNF281_uc021phb.1_Missense_Mutation_p.K493T	NM_012482	NP_036614	Q9Y2X9	ZN281_HUMAN	Homo sapiens zinc finger protein 281 (ZNF281), mRNA.	493					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	27						AGACAAGGATTTCTGTCCTAC	0.393000														93			5		0	0	1	0	0
CD44	960	broad.mit.edu	37	11	35198194	35198194	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:35198194C>T	uc001mvu.3	+	1	574	c.140C>T	c.(139-141)aCg>aTg	p.T47M	CD44_uc021qfw.1_Missense_Mutation_p.T47M|CD44_uc001mvv.3_Missense_Mutation_p.T47M|CD44_uc001mvw.3_Missense_Mutation_p.T47M|CD44_uc001mwc.4_Missense_Mutation_p.T47M|CD44_uc001mvx.3_Missense_Mutation_p.T47M|CD44_uc010rer.2_Missense_Mutation_p.T47M|CD44_uc001mvy.3_Missense_Mutation_p.T47M|CD44_uc009ykh.3_Non-coding_Transcript	NM_000610	NP_000601	P16070	CD44_HUMAN	Homo sapiens CD44 molecule (Indian blood group) (CD44), transcript variant 1, mRNA.	47	Link.				cell-cell adhesion|cell-matrix adhesion|interferon-gamma-mediated signaling pathway|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of apoptosis|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation	Golgi apparatus|cell surface|integral to plasma membrane	collagen binding|hyaluronic acid binding|receptor activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|skin(1)	23	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.00731)		Hyaluronidase(DB00070)	ATCTCTCGGACGGAGGCCGCT	0.483000														26			12		0	0	1	0	0
TOMM34	10953	broad.mit.edu	37	20	43580603	43580603	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:43580603G>A	uc002xmy.3	-	3	561	c.421C>T	c.(421-423)Cgc>Tgc	p.R141C	PABPC1L_uc002xmx.3_Intron	NM_006809	NP_006800	Q15785	TOM34_HUMAN	Homo sapiens translocase of outer mitochondrial membrane 34 (TOMM34), nuclear gene encoding mitochondrial protein, mRNA.	141					protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane	heat shock protein binding|signal sequence binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	11		Myeloproliferative disorder(115;0.0122)				AGCTTCAGGCGCCACTCAGGC	0.517000														37			14		0	0	1	0	0
RASGEF1B	153020	broad.mit.edu	37	4	82369301	82369301	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:82369301T>C	uc003hmi.1	-	4	720	c.576A>G	c.(574-576)ccA>ccG	p.P192P	RASGEF1B_uc003hmj.1_Silent_p.P191P|RASGEF1B_uc010ijq.1_Silent_p.P150P	NM_152545	NP_689758	Q0VAM2	RGF1B_HUMAN	Homo sapiens RasGEF domain family, member 1B (RASGEF1B), mRNA.	192					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity			endometrium(2)|kidney(5)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	26						GTATAGACTGTGGCTTGGTCT	0.502000														115			43		0	0	1	0	0
GLI2	2736	broad.mit.edu	37	2	121746916	121746916	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:121746916G>A	uc010flp.3	+	12	3456	c.3426G>A	c.(3424-3426)atG>atA	p.M1142I	GLI2_uc002tmq.1_Missense_Mutation_p.M814I|GLI2_uc002tmr.1_Missense_Mutation_p.M797I|GLI2_uc002tmt.4_Missense_Mutation_p.M814I|GLI2_uc002tmu.4_Missense_Mutation_p.M797I	NM_005270	NP_005261	P10070	GLI2_HUMAN	Homo sapiens GLI family zinc finger 2 (GLI2), mRNA.	1142					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				AAAATAACATGCCTGTGCAGT	0.637000														17			7		0	0	1	0	0
ROR1	4919	broad.mit.edu	37	1	64643957	64643957	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:64643957C>T	uc001dbj.2	+	8	2632	c.2233C>T	c.(2233-2235)Cgg>Tgg	p.R745W		NM_005012	NP_005003	Q01973	ROR1_HUMAN	Homo sapiens receptor tyrosine kinase-like orphan receptor 1 (ROR1), transcript variant 1, mRNA.	745	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|Wnt-protein binding|transmembrane receptor protein tyrosine kinase activity			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						TATTCACGTCCGGCTTCGGTC	0.522000														24			23		0	0	1	0	0
ARAP2	116984	broad.mit.edu	37	4	36134931	36134931	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:36134931C>T	uc003gsq.2	-	19	3682	c.3344G>A	c.(3343-3345)gGt>gAt	p.G1115D		NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 (ARAP2), mRNA.	1115					regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						TAAAGCATTACCATCTGTACC	0.378000														43			23		0	0	1	0	0
CEP63	80254	broad.mit.edu	37	3	134277156	134277156	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:134277156G>T	uc003eqo.1	+	13	2089	c.1640G>T	c.(1639-1641)aGc>aTc	p.S547I	CEP63_uc003eql.1_Intron|CEP63_uc003eqm.3_Intron|CEP63_uc003eqn.1_Intron	NM_025180	NP_079456	Q96MT8	CEP63_HUMAN	Homo sapiens centrosomal protein 63kDa (CEP63), transcript variant 1, mRNA.	547					DNA damage checkpoint|G2/M transition of mitotic cell cycle|cell division|mitosis|signal transduction in response to DNA damage|spindle assembly	centrosome|cytosol|spindle pole	protein binding			kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						CCAACACACAGCAGAACAACT	0.299000														57			4		1.23904e-05	1.3743e-05	1	1	0
FLG	2312	broad.mit.edu	37	1	152275432	152275432	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:152275432C>T	uc001ezu.1	-	2	11966	c.11930G>A	c.(11929-11931)gGc>gAc	p.G3977D		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	3977					keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACCATAGCTGCCATGTCTCCA	0.418000									Ichthyosis					101			81		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140182645	140182645	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140182645G>A	uc003lhf.2	+	0	1863	c.1863G>A	c.(1861-1863)ccG>ccA	p.P621P	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc011czy.2_Intron|PCDHAC2_uc011czz.2_Silent_p.P621P	NM_018906	NP_061729	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 3 (PCDHA3), transcript variant 1, mRNA.	632	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.P621P(2)		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)			CGCGCATCCCGTTTCGCGTGG	0.667000														54			5		0	0	1	0	0
SNX31	169166	broad.mit.edu	37	8	101642602	101642602	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:101642602C>T	uc003yjr.3	-	3	425	c.274G>A	c.(274-276)Gtg>Atg	p.V92M		NM_152628	NP_689841	Q8N9S9	SNX31_HUMAN	Homo sapiens sorting nexin 31 (SNX31), mRNA.	92	PX.				cell communication|protein transport		phosphatidylinositol binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1)	26	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)			CTTCTCAACACGTTTGGGTCC	0.493000														12			7		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140201478	140201478	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140201478C>T	uc003lhl.2	+	0	118	c.118C>T	c.(118-120)Cac>Tac	p.H40Y	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_uc003lhk.1_Missense_Mutation_p.H40Y|PCDHAC2_uc003lhj.1_Missense_Mutation_p.H40Y	NM_018908	NP_061731	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 5 (PCDHA5), transcript variant 1, mRNA.	54					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)			GGAAGCCAAACACGGAACCTT	0.672000														67			10		0	0	1	0	0
ADCK4	79934	broad.mit.edu	37	19	41206296	41206296	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:41206296C>T	uc002oor.2	-	10	1256	c.954G>A	c.(952-954)acG>acA	p.T318T	ADCK4_uc002oop.1_5'UTR|ADCK4_uc002ooq.2_Silent_p.T277T	NM_024876	NP_079152	Q96D53	ADCK4_HUMAN	Homo sapiens aarF domain containing kinase 4 (ADCK4), transcript variant 1, mRNA.	318	Protein kinase.		T -> M (in dbSNP:rs55899516).			integral to membrane	protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(6)|stomach(2)|urinary_tract(1)	17			Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219)			GCACCCGTGTCGTGCACAGCT	0.642000														13			15		0	0	1	0	0
ASGR1	432	broad.mit.edu	37	17	7077130	7077130	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7077130C>T	uc002ges.4	-	8	1124	c.724G>A	c.(724-726)Gac>Aac	p.D242N	ASGR1_uc021toy.1_Missense_Mutation_p.D203N|ASGR1_uc010clx.1_3'UTR	NM_001671	NP_001662	P07306	ASGR1_HUMAN	Homo sapiens asialoglycoprotein receptor 1 (ASGR1), transcript variant 1, mRNA.	242	C-type lectin.				receptor-mediated endocytosis	integral to plasma membrane	asialoglycoprotein receptor activity|metal ion binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|urinary_tract(1)	10						TACCAGTCGTCCGGCTGCTCC	0.711000														50			21		0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124215217	124215217	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:124215217C>A	uc003ehg.3	+	32	5013	c.4886C>A	c.(4885-4887)tCc>tAc	p.S1629Y	KALRN_uc010hrv.1_Missense_Mutation_p.S1620Y|KALRN_uc003ehf.1_Missense_Mutation_p.S1629Y|KALRN_uc011bjy.1_Missense_Mutation_p.S1620Y	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA.	1629					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GACACCATCTCCATTGCTTCT	0.547000														61			10		0.000151284	0.000164177	1	1	0
LPHN2	23266	broad.mit.edu	37	1	82432123	82432123	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:82432123C>A	uc001dit.4	+	11	2309	c.2128C>A	c.(2128-2130)Ctg>Atg	p.L710M	LPHN2_uc001dis.3_Intron|LPHN2_uc001diu.3_Missense_Mutation_p.L710M|LPHN2_uc001div.3_Missense_Mutation_p.L710M|LPHN2_uc009wcd.3_Missense_Mutation_p.L710M|LPHN2_uc001diw.3_Missense_Mutation_p.L294M	NM_012302	NP_036434	O95490	LPHN2_HUMAN	Homo sapiens latrophilin 2 (LPHN2), mRNA.	723					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		TTACCGGAGCCTGGGACAGTT	0.378000														110			7		0.00198382	0.00208369	1	1	0
MUC2	4583	broad.mit.edu	37	11	1099269	1099269	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:1099269G>A	uc001lsx.1	+	39	7263	c.7236G>A	c.(7234-7236)acG>acA	p.T2412T		NM_002457	NP_002448	Q02817	MUC2_HUMAN	Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA.	4778						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)	AAGAGCCCACGTGCAAATCCA	0.617000														45			15		0	0	1	0	0
ATP8B2	57198	broad.mit.edu	37	1	154303299	154303299	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:154303299C>T	uc001fex.3	+	3	198	c.198C>T	c.(196-198)tgC>tgT	p.C66C	ATP8B2_uc001few.3_Silent_p.C33C|ATP8B2_uc001fey.1_Silent_p.C52C	NM_020452	NP_065185	P98198	AT8B2_HUMAN	Homo sapiens ATPase, class I, type 8B, member 2 (ATP8B2), transcript variant 1, mRNA.	52					ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			AGAGTAACTGCATCAAGACCT	0.488000														43			4		0	0	1	0	0
SIN3B	23309	broad.mit.edu	37	19	16957837	16957837	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:16957837G>A	uc002ney.2	+	4	662	c.639G>A	c.(637-639)gtG>gtA	p.V213V	SIN3B_uc002new.3_Silent_p.V213V|SIN3B_uc002nez.2_Silent_p.V213V	NM_015260	NP_056075	O75182	SIN3B_HUMAN	Homo sapiens SIN3 transcription regulator homolog B (yeast) (SIN3B), mRNA.	213	PAH 2.				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding			endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						AAGAGGAGGTGTTCACCGAGG	0.577000														33			26		0	0	1	0	0
KLK1	3816	broad.mit.edu	37	19	51323632	51323632	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:51323632C>T	uc002ptk.1	-	2	313	c.274G>A	c.(274-276)Gtc>Atc	p.V92I	KLK1_uc010ycg.1_Non-coding_Transcript	NM_002257	NP_002248	P06870	KLK1_HUMAN	Homo sapiens kallikrein 1 (KLK1), mRNA.	92	Peptidase S1.				proteolysis	nucleus	serine-type endopeptidase activity			breast(1)|large_intestine(4)|lung(7)|urinary_tract(1)	13		all_neural(266;0.0199)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00399)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTCTCACTGACATGAACAAAC	0.552000														124			63		0	0	1	0	0
SLC25A22	79751	broad.mit.edu	37	11	792355	792355	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:792355C>A	uc001lri.3	-	7	1075	c.691G>T	c.(691-693)Gcc>Tcc	p.A231S	CEND1_uc001lrh.1_5'Flank|SLC25A22_uc009yci.3_Missense_Mutation_p.A231S|SLC25A22_uc001lrj.3_Missense_Mutation_p.A231S	NM_024698	NP_078974	Q9H936	GHC1_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier: glutamate), member 22 (SLC25A22), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	231						integral to membrane|mitochondrial inner membrane|nucleus	L-glutamate transmembrane transporter activity|protein binding|symporter activity			endometrium(1)|kidney(1)|lung(2)|urinary_tract(1)	5		all_cancers(49;4.75e-06)|all_epithelial(84;0.00204)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;6.27e-26)|Epithelial(43;4.84e-25)|OV - Ovarian serous cystadenocarcinoma(40;2.72e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	L-Glutamic Acid(DB00142)	ACACAGCCGGCCAGGAAGGAC	0.667000														96			9		2.17888e-05	2.40634e-05	1	1	0
MS4A1	931	broad.mit.edu	37	11	60230540	60230540	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:60230540G>T	uc009yna.3	+	2	552	c.225G>T	c.(223-225)ggG>ggT	p.G75G	MS4A1_uc009ymy.1_Silent_p.G75G|MS4A1_uc009ymz.3_Silent_p.G75G|MS4A1_uc010rlc.2_Intron|MS4A1_uc001npp.3_Silent_p.G75G|MS4A1_uc001npq.3_Silent_p.G75G	NM_152866	NP_690605	P11836	CD20_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 1 (MS4A1), transcript variant 1, mRNA.	75	Epitope 1.				B cell activation|immune response	integral to plasma membrane				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24					Ibritumomab(DB00078)|Rituximab(DB00073)|Tositumomab(DB00081)	TCCCAGCAGGGATCTATGCAC	0.517000														133			11		1.5842e-08	1.86177e-08	1	1	0
ZDHHC22	283576	broad.mit.edu	37	14	77605800	77605800	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:77605800G>A	uc010asp.3	-	1	485	c.282C>T	c.(280-282)acC>acT	p.T94T		NM_174976	NP_777636	Q8N966	ZDH22_HUMAN	Homo sapiens zinc finger, DHHC-type containing 22 (ZDHHC22), mRNA.	94						integral to membrane	acyltransferase activity|zinc ion binding			kidney(1)|lung(1)|urinary_tract(1)	3			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0277)		GGCAGAAGTGGGTGCTAGGTG	0.622000														4			4		0	0	1	0	0
TF	7018	broad.mit.edu	37	3	133467331	133467331	+	Missense_Mutation	SNP	G	A	A	rs146477698		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:133467331G>A	uc003epu.2	+	6	1847	c.119G>A	c.(118-120)aGt>aAt	p.S40N	TF_uc011bls.1_Missense_Mutation_p.S40N|TF_uc011blt.2_Intron|TF_uc003epw.2_Splice_Site_p.T40_splice|TF_uc003epv.2_Missense_Mutation_p.S40N	NM_001063	NP_001054	P02787	TRFE_HUMAN	Homo sapiens transferrin (TF), mRNA.	40	Transferrin-like 1.				cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)	AAGTGCCAGAGTTTCCGCGAC	0.542000														28			14		0	0	1	0	0
CCDC74B	91409	broad.mit.edu	37	2	130897934	130897934	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:130897934C>T	uc010yzw.1	-	3	1744	c.1000G>A	c.(1000-1002)Gca>Aca	p.A334T	CCDC74B_uc002tqm.1_Missense_Mutation_p.A232T|CCDC74B_uc002tqn.1_Missense_Mutation_p.A166T			Q96LY2	CC74B_HUMAN	Homo sapiens coiled-coil domain containing 74B (CCDC74B), mRNA.	232										endometrium(2)|large_intestine(1)|lung(3)	6	Colorectal(110;0.1)					GAGGCCTCTGCTTTCTCCTTT	0.637000														64			42		0	0	1	0	0
SLC34A2	10568	broad.mit.edu	37	4	25678251	25678251	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:25678251G>A	uc003grr.3	+	12	2034	c.1953G>A	c.(1951-1953)gcG>gcA	p.A651A	SLC34A2_uc003grs.3_Silent_p.A650A|SLC34A2_uc010iev.3_Silent_p.A650A	NM_006424	NP_006415	O95436	NPT2B_HUMAN	Homo sapiens solute carrier family 34 (sodium phosphate), member 2 (SLC34A2), transcript variant 1, mRNA.	651					cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				TGGAGGAGGCGCAGGAGGGGC	0.617000			T	ROS1	NSCLC									15			9		0	0	1	0	0
MYH3	4621	broad.mit.edu	37	17	10545871	10545871	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:10545871G>A	uc002gmq.2	-	15	1839	c.1751C>T	c.(1750-1752)gCg>gTg	p.A584V		NM_002470	NP_002461	P11055	MYH3_HUMAN	Homo sapiens myosin, heavy chain 3, skeletal muscle, embryonic (MYH3), mRNA.	584	Myosin head-like.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						CACGGTGCCCGCATAGTGGAT	0.537000														71			34		0	0	1	0	0
HIPK4	147746	broad.mit.edu	37	19	40890006	40890006	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:40890006C>T	uc002onp.3	-	1	791	c.506G>A	c.(505-507)cGc>cAc	p.R169H		NM_144685	NP_653286	Q8NE63	HIPK4_HUMAN	Homo sapiens homeodomain interacting protein kinase 4 (HIPK4), mRNA.	169	Protein kinase.					cytoplasm	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	20			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)			CTTCACGTAGCGCACCTCGCT	0.642000														36			29		0	0	1	0	0
SENP2	59343	broad.mit.edu	37	3	185327117	185327117	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:185327117C>A	uc003fpn.3	+	6	872	c.701C>A	c.(700-702)cCt>cAt	p.P234H	SENP2_uc011brv.2_Missense_Mutation_p.P224H|SENP2_uc011brw.2_Missense_Mutation_p.P47H	NM_021627	NP_067640	Q9HC62	SENP2_HUMAN	Homo sapiens SUMO1/sentrin/SMT3 specific peptidase 2 (SENP2), mRNA.	234					Wnt receptor signaling pathway|mRNA transport|protein desumoylation|protein transport|proteolysis|regulation of Wnt receptor signaling pathway|transmembrane transport	cytoplasm|nuclear membrane|nuclear pore	SUMO-specific protease activity|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(3)	12	all_cancers(143;1.28e-10)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			TCTGTCTGTCCTGTAACTTCA	0.378000														68			8		0.0477658	0.0485825	1	1	0
PLEKHG3	26030	broad.mit.edu	37	14	65209908	65209908	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:65209908C>T	uc001xhp.2	+	16	3549	c.3510C>T	c.(3508-3510)gaC>gaT	p.D1170D	PLEKHG3_uc001xhn.1_Silent_p.D993D|PLEKHG3_uc001xho.1_Silent_p.D1049D|PLEKHG3_uc010aqh.1_Silent_p.D591D|PLEKHG3_uc001xhq.1_Silent_p.D554D	NM_015549	NP_056364	A1L390	PKHG3_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 3 (PLEKHG3), mRNA.	1049					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		GCTGGCCCGACGTCCGTGAGC	0.721000														39			32		0	0	1	0	0
GALNS	2588	broad.mit.edu	37	16	88901652	88901652	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:88901652G>A	uc010cid.3	-	8	1126	c.885C>T	c.(883-885)aaC>aaT	p.N295N	GALNS_uc002fly.4_Silent_p.N289N|GALNS_uc002flz.4_5'UTR			P34059	GALNS_HUMAN	Homo sapiens galactosamine (N-acetyl)-6-sulfate sulfatase (GALNS), mRNA.	289			S -> F (in MPS4A; mild form).			lysosome	N-acetylgalactosamine-4-sulfatase activity|N-acetylgalactosamine-6-sulfatase activity|metal ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(8)	22				BRCA - Breast invasive adenocarcinoma(80;0.0496)	Hyaluronidase(DB00070)	GGGCAGCGCCGTTGTCCGACG	0.602000														10			6		0	0	1	0	0
MAGI3	260425	broad.mit.edu	37	1	114128135	114128135	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:114128135G>A	uc001edk.3	+	3	861	c.680G>A	c.(679-681)aGc>aAc	p.S227N	MAGI3_uc001edh.3_Missense_Mutation_p.S227N|MAGI3_uc001edi.4_Missense_Mutation_p.S227N|MAGI3_uc010owm.2_Missense_Mutation_p.S227N	NM_001142782	NP_001136254	Q5TCQ9	MAGI3_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 3 (MAGI3), transcript variant 1, mRNA.	227	Guanylate kinase-like.				apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACATCTGTCAGCAAGATGGAA	0.428000														46			23		0	0	1	0	0
PIK3R5	23533	broad.mit.edu	37	17	8792129	8792129	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:8792129C>T	uc002glt.3	-	9	1042	c.975G>A	c.(973-975)gaG>gaA	p.E325E	PIK3R5_uc010vuz.2_Silent_p.E325E|PIK3R5_uc021tqc.1_5'UTR|PIK3R5_uc010cob.2_5'UTR|PIK3R5_uc010coa.2_5'UTR|PIK3R5_uc002glu.4_5'UTR	NM_014308	NP_001238784	Q8WYR1	PI3R5_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 5 (PIK3R5), transcript variant 2, mRNA.	325				DILQEILLKEQELLQPGILGDDEEEEEEEEEVEEDLETDGH CAERDSLLSTSSLASHDSTLSLASSQASG -> GNIEGDPG PRRPDSAGLASLQTSCRKSCSRNRSYSSQGSWEMMKRRERR RRRWRRTWKLTGTVPREIPCS (in Ref. 6; AAW63121).	platelet activation	cytosol|membrane|nucleus				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						cctcctcctcctcttcctcct	0.582000														31			3		0	0	1	0	0
CRY1	1407	broad.mit.edu	37	12	107395143	107395143	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:107395143A>C	uc001tmi.3	-	4	1458	c.599T>G	c.(598-600)tTt>tGt	p.F200C		NM_004075	NP_004066	Q16526	CRY1_HUMAN	Homo sapiens cryptochrome 1 (photolyase-like) (CRY1), mRNA.	200					DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA photolyase activity|blue light photoreceptor activity|double-stranded DNA binding|nucleotide binding|protein binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|skin(1)	29						ATCTGTATCAAAACCTACAAG	0.348000														37			19		0	0	1	0	0
ADRBK1	156	broad.mit.edu	37	11	67049350	67049350	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:67049350G>A	uc009yrn.1	+	10	1150	c.884G>A	c.(883-885)cGc>cAc	p.R295H		NM_001619	NP_001610	P25098	ARBK1_HUMAN	Homo sapiens adrenergic, beta, receptor kinase 1 (ADRBK1), mRNA.	295	Protein kinase.				activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway	cytosol|soluble fraction	ATP binding|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|alpha-2A adrenergic receptor binding|beta-adrenergic receptor kinase activity|signal transducer activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	GCTGACATGCGCTTCTATGCG	0.642000														41			30		0	0	1	0	0
ZNF281	23528	broad.mit.edu	37	1	200376235	200376235	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:200376235C>T	uc001gve.3	-	1	2706	c.2599G>A	c.(2599-2601)Gat>Aat	p.D867N	ZNF281_uc001gvf.1_Missense_Mutation_p.D867N|ZNF281_uc001gvg.1_Missense_Mutation_p.D831N|ZNF281_uc021phb.1_Missense_Mutation_p.D867N	NM_012482	NP_036614	Q9Y2X9	ZN281_HUMAN	Homo sapiens zinc finger protein 281 (ZNF281), mRNA.	867					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	27						CCTGAGAAATCTGACACTGAA	0.443000														90			45		0	0	1	0	0
ITPR3	3710	broad.mit.edu	37	6	33632961	33632961	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:33632961C>T	uc021ywr.1	+	12	1604	c.1380C>T	c.(1378-1380)aaC>aaT	p.N460N		NM_002224	NP_002215	Q14573	ITPR3_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 3 (ITPR3), mRNA.	460					G-protein coupled receptor protein signaling pathway|activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						AGAAACTCAACGAGGGCTTCA	0.577000														55			28		0	0	1	0	0
ZDHHC19	131540	broad.mit.edu	37	3	195925736	195925736	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:195925736G>T	uc003fwc.3	-	5	811	c.697C>A	c.(697-699)Ctt>Att	p.L233I	ZDHHC19_uc010iaa.3_Non-coding_Transcript|ZDHHC19_uc010hzz.3_Non-coding_Transcript|ZDHHC19_uc010iab.3_Non-coding_Transcript	NM_001039617	NP_001034706	Q8WVZ1	ZDH19_HUMAN	Homo sapiens zinc finger, DHHC-type containing 19 (ZDHHC19), mRNA.	233						integral to membrane	acyltransferase activity|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(7)|ovary(3)	14	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.89e-25)|all cancers(36;1.46e-23)|OV - Ovarian serous cystadenocarcinoma(49;2.1e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0022)		TATCCCTGAAGGTGTCTGCAC	0.587000														31			25		4.7796e-09	5.65454e-09	1	1	0
TBK1	29110	broad.mit.edu	37	12	64853996	64853996	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:64853996G>T	uc001ssc.2	+	2	274	c.115G>T	c.(115-117)Gta>Tta	p.V39L		NM_013254	NP_037386	Q9UHD2	TBK1_HUMAN	Homo sapiens TANK-binding kinase 1 (TBK1), mRNA.	39	Protein kinase.				I-kappaB kinase/NF-kappaB cascade|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription from RNA polymerase II promoter|response to virus|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)	20				GBM - Glioblastoma multiforme(28;0.0386)		TGCTATCAAAGTATTTAATAA	0.264000														26			4		0.184627	0.186034	1	1	0
AMDHD1	144193	broad.mit.edu	37	12	96346512	96346512	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:96346512C>A	uc001tel.2	+	1	261	c.155C>A	c.(154-156)gCt>gAt	p.A52D	AMDHD1_uc009zth.2_5'UTR	NM_152435	NP_689648	Q96NU7	HUTI_HUMAN	Homo sapiens amidohydrolase domain containing 1 (AMDHD1), mRNA.	52					histidine catabolic process to glutamate and formamide	cytosol	imidazolonepropionase activity|metal ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|skin(1)	22						TTTATAAAAGCTATTGGTCCT	0.318000														51			18		3.41278e-10	4.10877e-10	1	1	0
RAB11FIP5	26056	broad.mit.edu	37	2	73316066	73316066	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:73316066G>T	uc002siu.4	-	1	1050	c.809C>A	c.(808-810)cCt>cAt	p.P270H	RAB11FIP5_uc002sit.4_Missense_Mutation_p.P192H	NM_015470	NP_056285	Q9BXF6	RFIP5_HUMAN	Homo sapiens RAB11 family interacting protein 5 (class I) (RAB11FIP5), mRNA.	270					protein transport	mitochondrial outer membrane|recycling endosome membrane	gamma-tubulin binding			biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						TTCGGCGCCAGGTCCCTGGTA	0.682000														17			13		0.00185496	0.0019572	1	1	0
DCLK1	9201	broad.mit.edu	37	13	36362372	36362372	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:36362372C>T	uc001uvf.3	-	16	2392	c.2109G>A	c.(2107-2109)caG>caA	p.Q703Q	MAB21L1_uc001uvc.3_Intron|DCLK1_uc001uve.4_Silent_p.Q396Q|DCLK1_uc010teh.2_Intron|DCLK1_uc010abk.3_Silent_p.Q223Q	NM_004734	NP_004725	O15075	DCLK1_HUMAN	Homo sapiens doublecortin-like kinase 1 (DCLK1), transcript variant 1, mRNA.	0					cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		TTCCTGGTTGCTGGTAGTAGT	0.488000														76			7		0	0	1	0	0
INADL	10207	broad.mit.edu	37	1	62262978	62262978	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:62262978A>G	uc001dab.3	+	10	1394	c.1280A>G	c.(1279-1281)cAg>cGg	p.Q427R	INADL_uc009waf.1_Missense_Mutation_p.Q427R|INADL_uc001daa.2_Missense_Mutation_p.Q427R|INADL_uc001dad.3_Missense_Mutation_p.Q124R	NM_176877	NP_795352	Q8NI35	INADL_HUMAN	Homo sapiens InaD-like (Drosophila) (INADL), mRNA.	427	PDZ 3.				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						GTGAACATTCAGGGTTTTGCC	0.408000														163			8		0	0	1	0	0
EPB41L4A	64097	broad.mit.edu	37	5	111643154	111643154	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:111643154C>T	uc003kpv.1	-	1	407	c.133G>A	c.(133-135)Gta>Ata	p.V45I	EPB41L4A_uc003kpw.1_Missense_Mutation_p.V45I	NM_022140	NP_071423	Q9HCS5	E41LA_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1 like 4A (EPB41L4A), mRNA.	45	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		TGATGGAATACGTGGTCAAGG	0.383000														23			17		0	0	1	0	0
HHEX	3087	broad.mit.edu	37	10	94452481	94452481	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:94452481G>A	uc001kid.3	+	2	626	c.563G>A	c.(562-564)cGa>cAa	p.R188Q		NM_002729	NP_002720	Q03014	HHEX_HUMAN	Homo sapiens hematopoietically expressed homeobox (HHEX), mRNA.	188					B cell differentiation|DNA conformation change|Wnt receptor signaling pathway|anterior/posterior pattern formation|cell cycle|negative regulation of angiogenesis|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of vascular endothelial growth factor receptor signaling pathway|poly(A)+ mRNA export from nucleus|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein localization to nucleus	cytoplasm|nucleus|protein-DNA complex	DNA bending activity|TBP-class protein binding|eukaryotic initiation factor 4E binding|protein homodimerization activity|repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding			kidney(2)|large_intestine(2)|lung(5)|ovary(1)	10						TTTCAGAATCGACGCGCTAAA	0.478000														51			33		0	0	1	0	0
GOLGA5	9950	broad.mit.edu	37	14	93276605	93276605	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:93276605G>A	uc001yaz.1	+	4	1181	c.999G>A	c.(997-999)atG>atA	p.M333I		NM_005113	NP_005104	Q8TBA6	GOGA5_HUMAN	Homo sapiens golgin A5 (GOLGA5), mRNA.	333					Golgi organization	cis-Golgi network|integral to membrane	ATP binding|Rab GTPase binding|protein homodimerization activity|protein tyrosine kinase activity			large_intestine(6)|lung(1)|ovary(2)	9		all_cancers(154;0.0934)		COAD - Colon adenocarcinoma(157;0.222)		TTAGAATAATGCAGGATCAAA	0.423000			T	RET	papillary thyroid									16			12		0	0	1	0	0
ACE2	59272	broad.mit.edu	37	X	15596323	15596323	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:15596323C>T	uc004cxa.1	-	8	1354	c.1186G>A	c.(1186-1188)Gct>Act	p.A396T	ACE2_uc004cxb.2_Missense_Mutation_p.A396T	NM_021804	NP_068576	Q9BYF1	ACE2_HUMAN	Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 2 (ACE2), mRNA.	396					angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor	cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane	carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32	Hepatocellular(33;0.183)				Moexipril(DB00691)	CCTTCATTAGCTCCATTTCTT	0.433000														46			26		0	0	1	0	0
OR14A16	284532	broad.mit.edu	37	1	247978154	247978154	+	Missense_Mutation	SNP	G	A	A	rs111974834		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:247978154G>A	uc001idm.1	-	0	878	c.878C>T	c.(877-879)gCc>gTc	p.A293V		NM_001001966	NP_001001966	Q8NHC5	O14AG_HUMAN	Homo sapiens olfactory receptor, family 14, subfamily A, member 16 (OR14A16), mRNA.	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.K292N(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						CACCTTTATGGCCTTGTTTCT	0.378000														42			22		0	0	1	0	0
SLC39A14	23516	broad.mit.edu	37	8	22275310	22275310	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:22275310G>A	uc003xbq.4	+	7	1469	c.1294G>A	c.(1294-1296)Gct>Act	p.A432T	SLC39A14_uc011kzg.2_Missense_Mutation_p.A432T|SLC39A14_uc003xbp.4_Missense_Mutation_p.A432T|SLC39A14_uc011kzh.2_Missense_Mutation_p.A432T	NM_001128431	NP_001128625	Q15043	S39AE_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 14 (SLC39A14), transcript variant 1, mRNA.	432						Golgi apparatus|endoplasmic reticulum|integral to membrane|lamellipodium|plasma membrane	zinc ion transmembrane transporter activity			NS(1)|endometrium(4)|large_intestine(2)|lung(4)|prostate(1)	12				Colorectal(74;0.019)|COAD - Colon adenocarcinoma(73;0.0731)		TTTTGCGCTAGCTGGAGGAAT	0.512000														33			18		0	0	1	0	0
BSN	8927	broad.mit.edu	37	3	49689802	49689802	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49689802G>A	uc003cxe.4	+	4	2927	c.2813G>A	c.(2812-2814)aGc>aAc	p.S938N		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.	938					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		GAGCTCAACAGCACGGGAAGT	0.622000														32			26		0	0	1	0	0
TNN	63923	broad.mit.edu	37	1	175087717	175087717	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:175087717C>A	uc001gkl.1	+	10	2520	c.2407C>A	c.(2407-2409)Ctg>Atg	p.L803M		NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	Homo sapiens tenascin N (TNN), mRNA.	803	Fibronectin type-III 7.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CCCCCAAAACCTGGTCACTGA	0.522000														67			6		0.00116845	0.00123466	1	1	0
CSMD2	114784	broad.mit.edu	37	1	34209090	34209090	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:34209090C>T	uc001bxm.1	-	13	2141	c.1964G>A	c.(1963-1965)cGc>cAc	p.R655H	CSMD2_uc001bxn.1_Missense_Mutation_p.R615H	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	615	CUB 4.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CAGGTGGATGCGGCTCTCAGG	0.612000														26			28		0	0	1	0	0
KCNG4	93107	broad.mit.edu	37	16	84270343	84270343	+	Missense_Mutation	SNP	T	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:84270343T>A	uc010voc.2	-	1	870	c.749A>T	c.(748-750)gAg>gTg	p.E250V	KCNG4_uc002fhu.1_Missense_Mutation_p.E250V	NM_172347	NP_758857	Q8TDN1	KCNG4_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily G, member 4 (KCNG4), mRNA.	250						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						CACCTGGTCCTCCTCTGCCCT	0.617000														19			3		0	0	1	0	0
TG	7038	broad.mit.edu	37	8	133961178	133961178	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:133961178G>T	uc003ytw.3	+	26	5432	c.5391G>T	c.(5389-5391)gaG>gaT	p.E1797D	TG_uc010mdw.3_Missense_Mutation_p.E556D|TG_uc011ljb.2_Missense_Mutation_p.E166D	NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	1797					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	p.Q1796K(1)		NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GAGACCAGGAGTTCATCAAGA	0.478000														62			32		6.00712e-18	7.68252e-18	1	1	0
CDH23	64072	broad.mit.edu	37	10	73206145	73206145	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:73206145G>A	uc001jrx.4	+	2	528	c.138G>A	c.(136-138)acG>acA	p.T46T	CDH23_uc001jrw.4_Silent_p.T46T|CDH23_uc001jry.3_Silent_p.T46T|CDH23_uc001jrz.3_Silent_p.T46T|CDH23_uc021psl.1_Silent_p.T46T|CDH23_uc001jrv.3_Intron|CDH23_uc009xql.3_Silent_p.T46T	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA.	46	Cadherin 1.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						GCGAGGACACGCCTGTGGGTG	0.577000														36			15		0	0	1	0	0
OSTalpha	200931	broad.mit.edu	37	3	195959363	195959363	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:195959363C>T	uc003fwd.3	+	7	1055	c.854C>T	c.(853-855)tCg>tTg	p.S285L	OSTalpha_uc010iac.1_Missense_Mutation_p.S169L|OSTalpha_uc003fwe.3_Missense_Mutation_p.S152L	NM_152672	NP_689885	Q86UW1	OSTA_HUMAN	Homo sapiens organic solute transporter alpha (OSTalpha), mRNA.	285						integral to membrane|plasma membrane	transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;8.83e-25)|all cancers(36;8.38e-23)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;7.51e-07)|Lung(62;1.06e-06)	GBM - Glioblastoma multiforme(46;0.00202)		ATTGCTTGTTCGCCTCCCTAT	0.552000														30			22		0	0	1	0	0
IL22RA1	58985	broad.mit.edu	37	1	24454689	24454689	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:24454689G>A	uc001biq.2	-	4	815	c.612C>T	c.(610-612)tgC>tgT	p.C204C	IL22RA1_uc010oeg.1_Silent_p.C96C|IL22RA1_uc009vrb.2_Silent_p.C68C|IL22RA1_uc010oeh.2_Silent_p.C204C	NM_021258	NP_067081	Q8N6P7	I22R1_HUMAN	Homo sapiens interleukin 22 receptor, alpha 1 (IL22RA1), mRNA.	204	Fibronectin type-III 2.					integral to membrane	interferon receptor activity			breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148)		AGGTGGGAACGCAAATCATGA	0.557000														28			26		0	0	1	0	0
MAGEE1	57692	broad.mit.edu	37	X	75651070	75651070	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:75651070G>A	uc004ecm.2	+	0	3025	c.2747G>A	c.(2746-2748)cGa>cAa	p.R916Q		NM_020932	NP_065983	Q9HCI5	MAGE1_HUMAN	Homo sapiens melanoma antigen family E, 1 (MAGEE1), mRNA.	916	Interaction with DTNA (By similarity).|MAGE 2.					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						AAAGCCTTGCGATATGTGGCC	0.493000														25			16		0	0	1	0	0
ENSA	2029	broad.mit.edu	37	1	150599945	150599945	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:150599945C>A	uc009wly.3	-	1	333	c.181G>T	c.(181-183)Ggg>Tgg	p.G61W	ENSA_uc001evd.3_Missense_Mutation_p.G61W|ENSA_uc001eve.3_Missense_Mutation_p.G61W|ENSA_uc001evg.3_Missense_Mutation_p.G61W|ENSA_uc001evh.3_Missense_Mutation_p.G61W|ENSA_uc009wlz.1_Missense_Mutation_p.G61W|ENSA_uc001evi.3_Missense_Mutation_p.G61W|ENSA_uc001evb.3_Missense_Mutation_p.G57W|ENSA_uc001evc.3_Missense_Mutation_p.G57W|ENSA_uc001evf.3_Missense_Mutation_p.G57W	NM_207043	NP_997051	O43768	ENSA_HUMAN	Homo sapiens endosulfine alpha (ENSA), transcript variant 2, mRNA.	61					G2/M transition of mitotic cell cycle|cell division|mitosis|response to nutrient|transport	cytoplasm	ion channel inhibitor activity|protein phosphatase 2A binding|protein phosphatase inhibitor activity|protein phosphatase type 2A regulator activity|receptor binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(1)	4	all_cancers(9;3.09e-52)|all_epithelial(9;4.47e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000615)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;9.85e-23)|all cancers(9;5.06e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.67e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000701)|LUSC - Lung squamous cell carcinoma(543;0.171)			CCCCATACCCCTTTCTGGAGT	0.483000														122			9		0.000274275	0.000294507	1	1	0
FAM208B	54906	broad.mit.edu	37	10	5803400	5803400	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:5803400G>A	uc001iij.3	+	18	7765	c.7140G>A	c.(7138-7140)caG>caA	p.Q2380Q	FAM208B_uc001iik.3_Silent_p.Q1224Q	NM_017782	NP_060252	Q5VWN6	CJ018_HUMAN	Homo sapiens family with sequence similarity 208, member B (FAM208B), mRNA.	2380																	TGCAAATTCAGCATATTGATG	0.383000														100			13		0	0	1	0	0
FGL1	2267	broad.mit.edu	37	8	17739544	17739544	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:17739544T>C	uc003wye.3	-	4	1024	c.358A>G	c.(358-360)Act>Gct	p.T120A	FGL1_uc003wxx.3_Missense_Mutation_p.T70A|FGL1_uc003wxy.3_Missense_Mutation_p.T70A|FGL1_uc003wya.3_Missense_Mutation_p.T70A|FGL1_uc003wyb.3_Missense_Mutation_p.T70A	NM_201553	NP_963847	Q08830	FGL1_HUMAN	Homo sapiens fibrinogen-like 1 (FGL1), transcript variant 4, mRNA.	70	Fibrinogen C-terminal.				signal transduction	fibrinogen complex	receptor binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)	13				Colorectal(111;0.0573)|COAD - Colon adenocarcinoma(73;0.215)		TCAATGACAGTATTCTCATCT	0.443000														49			30		0	0	1	0	0
LEO1	123169	broad.mit.edu	37	15	52242105	52242105	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:52242105G>A	uc002abo.3	-	9	1714	c.1698C>T	c.(1696-1698)agC>agT	p.S566S	LEO1_uc010bfd.3_Silent_p.S506S	NM_138792	NP_620147	Q8WVC0	LEO1_HUMAN	Homo sapiens Leo1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae) (LEO1), mRNA.	566					histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|skin(1)	14				all cancers(107;0.00264)		GGTAACTGGCGCTCAGCCCCC	0.517000														42			19		0	0	1	0	0
ZNF507	22847	broad.mit.edu	37	19	32844172	32844172	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:32844172C>T	uc002nte.3	+	2	708	c.436C>T	c.(436-438)Caa>Taa	p.Q146*	ZNF507_uc002ntc.2_Nonsense_Mutation_p.Q146*|ZNF507_uc010xrn.1_Nonsense_Mutation_p.Q146*|ZNF507_uc002ntd.3_Nonsense_Mutation_p.Q146*	NM_001136156	NP_055725	Q8TCN5	ZN507_HUMAN	Homo sapiens zinc finger protein 507 (ZNF507), transcript variant 1, mRNA.	146					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	31	Esophageal squamous(110;0.162)					TCATATTAAGCAACATGGTCA	0.418000														30			19		0	0	1	0	0
FLJ43860	389690	broad.mit.edu	37	8	142476636	142476636	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:142476636G>T	uc003ywi.2	-	18	2431	c.2350C>A	c.(2350-2352)Ctc>Atc	p.L784I	FLJ43860_uc011ljs.1_Non-coding_Transcript|FLJ43860_uc010meu.1_Non-coding_Transcript	NM_207414	NP_997297	Q6ZUA9	Q6ZUA9_HUMAN	Homo sapiens FLJ43860 protein (FLJ43860), mRNA.	784							binding					all_cancers(97;7.79e-15)|all_epithelial(106;4.52e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			CACAGGCGGAGGCGGATGGCC	0.662000														19			3		0.004672	0.00486265	1	1	0
SCN9A	6335	broad.mit.edu	37	2	167168078	167168078	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:167168078A>G	uc010fpl.3	-	1	530	c.189T>C	c.(187-189)taT>taC	p.Y63Y		NM_002977	NP_002968	Q15858	SCN9A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	63						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	GAATGTCCCCATAGATGAAGG	0.473000														60			28		0	0	1	0	0
FRMPD4	9758	broad.mit.edu	37	X	12734712	12734712	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:12734712G>A	uc004cuz.2	+	14	2640	c.2134G>A	c.(2134-2136)Gaa>Aaa	p.E712K	FRMPD4_uc011mij.2_Missense_Mutation_p.E704K	NM_014728	NP_055543	Q14CM0	FRPD4_HUMAN	Homo sapiens FERM and PDZ domain containing 4 (FRMPD4), mRNA.	712					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						CCAGTTTGTGGAAAATTCTGT	0.498000														163			91		0	0	1	0	0
BZRAP1	9256	broad.mit.edu	37	17	56382460	56382460	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:56382460G>T	uc002ivx.4	-	29	6377	c.5506C>A	c.(5506-5508)Ctg>Atg	p.L1836M	BZRAP1_uc002ivv.3_Missense_Mutation_p.L66M|BZRAP1_uc002ivw.3_Missense_Mutation_p.L68M|BZRAP1_uc010dcs.3_Missense_Mutation_p.L1776M|BZRAP1_uc010wnt.2_Missense_Mutation_p.L1827M	NM_004758	NP_004749	O95153	RIMB1_HUMAN	Homo sapiens benzodiazapine receptor (peripheral) associated protein 1 (BZRAP1), transcript variant 1, mRNA.	1836						mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TCCCTGTCCAGGCCGCCTGCC	0.632000														38			4		4.096e-09	4.85449e-09	1	1	0
PBRM1	55193	broad.mit.edu	37	3	52598163	52598163	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52598163G>A	uc003des.2	-	22	3790	c.3778C>T	c.(3778-3780)Cgc>Tgc	p.R1260C	PBRM1_uc003dex.2_Non-coding_Transcript|PBRM1_uc003deq.2_Missense_Mutation_p.R1260C|PBRM1_uc003der.2_Missense_Mutation_p.R1228C|PBRM1_uc003det.2_Missense_Mutation_p.R1275C|PBRM1_uc003deu.2_Missense_Mutation_p.R1275C|PBRM1_uc003dev.2_Non-coding_Transcript|PBRM1_uc003dew.2_Missense_Mutation_p.R1260C|PBRM1_uc010hmk.1_Missense_Mutation_p.R1235C|PBRM1_uc003dey.2_Missense_Mutation_p.R1235C|PBRM1_uc003dez.1_Missense_Mutation_p.R1259C	NM_181042	NP_060635	Q86U86	PB1_HUMAN	Homo sapiens polybromo 1 (PBRM1), transcript variant 4, mRNA.	1260	BAH 2.				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	DNA binding|chromatin binding|protein binding			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TCATTGTAGCGGCTCTCACAA	0.408000			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""									42			25		0	0	1	0	0
ZNF431	170959	broad.mit.edu	37	19	21366001	21366001	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:21366001C>T	uc010ecr.2	+	4	1045	c.898C>T	c.(898-900)Cgg>Tgg	p.R300W	ZNF431_uc002npp.2_Missense_Mutation_p.R299W|ZNF431_uc010ecq.2_Missense_Mutation_p.R208W	NM_133473	NP_597730	Q8TF32	ZN431_HUMAN	Homo sapiens zinc finger protein 431 (ZNF431), mRNA.	299					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R299P(2)|p.S300S(1)		breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23						AGCCTTCAACCGGTCCTCACA	0.408000														43			8		0	0	1	0	0
ZNF222	7673	broad.mit.edu	37	19	44536092	44536092	+	Missense_Mutation	SNP	A	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:44536092A>T	uc002oye.3	+	3	480	c.385A>T	c.(385-387)Agt>Tgt	p.S129C	ZNF284_uc010ejd.2_Intron|ZNF222_uc002oyc.3_Missense_Mutation_p.S89C|ZNF222_uc002oyd.3_Missense_Mutation_p.S35C	NM_001129996	NP_001123468	Q9UK12	ZN222_HUMAN	Homo sapiens zinc finger protein 222 (ZNF222), transcript variant 1, mRNA.	89					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20		Prostate(69;0.0435)				TACCACCATAAGTAACTCTCA	0.403000														53			42		0	0	1	0	0
SIRT4	23409	broad.mit.edu	37	12	120741693	120741693	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:120741693T>C	uc001tyc.3	+	1	388	c.329T>C	c.(328-330)tTc>tCc	p.F110S		NM_012240	NP_036372	Q9Y6E7	SIRT4_HUMAN	Homo sapiens sirtuin 4 (SIRT4), mRNA.	110	Deacetylase sirtuin-type.				chromatin silencing|negative regulation of insulin secretion|protein ADP-ribosylation|protein deacetylation	mitochondrial matrix	NAD+ ADP-ribosyltransferase activity|NAD+ binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|protein binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)	9	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCGAGAAACTTCGTAGGCTGG	0.577000														28			6		0	0	1	0	0
IQGAP2	10788	broad.mit.edu	37	5	75902110	75902110	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:75902110A>G	uc003kek.3	+	11	1561	c.1339A>G	c.(1339-1341)Att>Gtt	p.I447V	IQGAP2_uc010izv.2_5'Flank|IQGAP2_uc011csv.2_5'Flank|IQGAP2_uc003kel.3_5'Flank	NM_006633	NP_006624	Q13576	IQGA2_HUMAN	Homo sapiens IQ motif containing GTPase activating protein 2 (IQGAP2), mRNA.	447					small GTPase mediated signal transduction	actin cytoskeleton	GTPase inhibitor activity|Ras GTPase activator activity|actin binding|calmodulin binding	p.Q446*(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		TAATGCTCAAATTCAAGAAGA	0.348000														23			16		0	0	1	0	0
SLC15A3	51296	broad.mit.edu	37	11	60708695	60708695	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:60708695C>T	uc001nqn.2	-	4	1409	c.1175G>A	c.(1174-1176)cGc>cAc	p.R392H	SLC15A3_uc001nqo.2_Intron	NM_016582	NP_057666	Q8IY34	S15A3_HUMAN	Homo sapiens solute carrier family 15, member 3 (SLC15A3), transcript variant 1, mRNA.	392					oligopeptide transport|protein transport	integral to membrane|lysosomal membrane	peptide:hydrogen symporter activity			central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)	17						GTCGATCAAGCGGTCCTTCAG	0.577000														12			12		0	0	1	0	0
OR1N1	138883	broad.mit.edu	37	9	125289054	125289054	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:125289054A>G	uc004bmn.1	-	0	519	c.519T>C	c.(517-519)gcT>gcC	p.A173A		NM_012363	NP_036495	Q8NGS0	OR1N1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily N, member 1 (OR1N1), mRNA.	173					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|large_intestine(2)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						AGAAAAAGTGAGCAATTTCCC	0.502000														18			7		0	0	1	0	0
PTPN11	5781	broad.mit.edu	37	12	112919928	112919928	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:112919928C>T	uc001ttx.3	+	9	1523	c.1143C>T	c.(1141-1143)ggC>ggT	p.G381G	PTPN11_uc001ttw.1_Silent_p.G381G	NM_002834	NP_002825	Q06124	PTN11_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 11 (PTPN11), mRNA.	381	Tyrosine-protein phosphatase.				T cell costimulation|axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytosol	non-membrane spanning protein tyrosine phosphatase activity|protein binding			NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						AAGAATATGGCGTCATGCGTG	0.368000			Mis		"""JMML, AML, MDS"""		Noonan Syndrome		Noonan syndrome					37			20		0	0	1	0	0
AMDHD2	51005	broad.mit.edu	37	16	2580303	2580303	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:2580303C>T	uc010uwc.2	+	10	1425	c.1328C>T	c.(1327-1329)gCa>gTa	p.A443V	AMDHD2_uc010uwd.2_Missense_Mutation_p.A207V|CEMP1_uc002cqr.3_3'UTR	NM_001145815	NP_001139287	Q9Y303	NAGA_HUMAN	Homo sapiens amidohydrolase domain containing 2 (AMDHD2), transcript variant 2, mRNA.	222					N-acetylglucosamine metabolic process		N-acetylglucosamine-6-phosphate deacetylase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)|skin(2)|urinary_tract(2)	19						TGCTGGAGGGCAGTATGGGAG	0.582000														23			18		0	0	1	0	0
RSRC2	65117	broad.mit.edu	37	12	122990173	122990173	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:122990173A>C	uc001ucr.3	-	9	1366	c.1206T>G	c.(1204-1206)aaT>aaG	p.N402K	RSRC2_uc001uco.3_Missense_Mutation_p.N171K|RSRC2_uc001ucp.3_Missense_Mutation_p.N343K|RSRC2_uc001ucs.3_Missense_Mutation_p.N171K|RSRC2_uc001uct.3_Missense_Mutation_p.N354K	NM_023012	NP_075388	Q7L4I2	RSRC2_HUMAN	Homo sapiens arginine/serine-rich coiled-coil 2 (RSRC2), transcript variant 1, mRNA.	402										breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|urinary_tract(2)	24	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.14e-05)|Epithelial(86;0.000183)|BRCA - Breast invasive adenocarcinoma(302;0.201)		GAGCATCTAAATTTCGAAATA	0.393000														67			36		0	0	1	0	0
SRFBP1	153443	broad.mit.edu	37	5	121356065	121356065	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:121356065C>A	uc003kst.1	+	5	707	c.635C>A	c.(634-636)tCt>tAt	p.S212Y		NM_152546	NP_689759	Q8NEF9	SRFB1_HUMAN	Homo sapiens serum response factor binding protein 1 (SRFBP1), mRNA.	212					regulation of transcription, DNA-dependent|transcription, DNA-dependent	perinuclear region of cytoplasm				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|skin(1)	15		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000227)|Epithelial(69;0.000365)|all cancers(49;0.00517)		GAAAAGGATTCTGTAGTTTCC	0.383000														80			6		3.59834e-05	3.95114e-05	1	1	0
CAMSAP1	157922	broad.mit.edu	37	9	138707005	138707005	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:138707005C>T	uc004cgr.4	-	15	4444	c.4444G>A	c.(4444-4446)Gcc>Acc	p.A1482T	CAMSAP1_uc004cgq.4_Missense_Mutation_p.A1372T|CAMSAP1_uc010nbg.3_Missense_Mutation_p.A1204T	NM_015447	NP_056262	Q5T5Y3	CAMP1_HUMAN	Homo sapiens calmodulin regulated spectrin-associated protein 1 (CAMSAP1), mRNA.	1482	CKK.					cytoplasm|microtubule				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		TGGGATATGGCATTGTGAATA	0.413000														16			7		0	0	1	0	0
CROCC	9696	broad.mit.edu	37	1	17266488	17266488	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:17266488C>A	uc001azt.2	+	12	1777	c.1708C>A	c.(1708-1710)Ctg>Atg	p.L570M	CROCC_uc009voy.1_Missense_Mutation_p.L273M|CROCC_uc009voz.1_Missense_Mutation_p.L333M|CROCC_uc001azu.2_5'UTR	NM_014675	NP_055490	Q5TZA2	CROCC_HUMAN	Homo sapiens ciliary rootlet coiled-coil, rootletin (CROCC), mRNA.	570					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		AGAGGAACAGCTGCAGCGCCT	0.697000														29			4		0.184627	0.186034	1	1	0
GC	2638	broad.mit.edu	37	4	72631303	72631303	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:72631303C>A	uc010iif.3	-	4	471	c.376G>T	c.(376-378)Ggc>Tgc	p.G126C	GC_uc003hge.3_Missense_Mutation_p.G107C|GC_uc021xpb.1_Missense_Mutation_p.G107C	NM_001204307	NP_001191236	P02774	VTDB_HUMAN	Homo sapiens group-specific component (vitamin D binding protein) (GC), transcript variant 3, mRNA.	107	Albumin 1.				hormone biosynthetic process|vitamin D metabolic process	cytosol|lysosomal lumen	actin binding|vitamin D binding|vitamin transporter activity			endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	45		all_hematologic(202;0.107)	Lung(101;0.148)		Cholecalciferol(DB00169)	TCAGCAGTGCCTGGGTGAACG	0.498000														70			11		1.08611e-07	1.25606e-07	1	1	0
ATM	472	broad.mit.edu	37	11	108163424	108163424	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:108163424C>T	uc001pkb.1	+	29	4900	c.4515C>T	c.(4513-4515)gcC>gcT	p.A1505A	ATM_uc009yxr.1_Silent_p.A1505A|ATM_uc001pke.2_Silent_p.A157A|ATM_uc001pkf.3_Intron	NM_000051	NP_000042	Q13315	ATM_HUMAN	Homo sapiens ataxia telangiectasia mutated (ATM), mRNA.	1505					DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2/M transition DNA damage checkpoint|cell cycle arrest|cellular response to gamma radiation|double-strand break repair via homologous recombination|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein N-terminus binding|protein complex binding|protein dimerization activity			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		GCCAGACAGCCGTGACTTACT	0.403000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)				127			79		0	0	1	0	0
CORO7-PAM16	100529144	broad.mit.edu	37	16	4409612	4409612	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:4409612G>A	uc002cwf.3	-	21	2562	c.2119C>T	c.(2119-2121)Cgc>Tgc	p.R707C	CORO7-PAM16_uc002cwe.3_Non-coding_Transcript|CORO7-PAM16_uc002cwg.4_Missense_Mutation_p.R487C|CORO7-PAM16_uc002cwh.4_Missense_Mutation_p.R707C|CORO7-PAM16_uc010uxh.2_Missense_Mutation_p.R689C|CORO7-PAM16_uc010uxi.2_Missense_Mutation_p.R622C|CORO7-PAM16_uc002cwi.1_Missense_Mutation_p.R487C	NM_001201479	NP_001188408			Homo sapiens CORO7-PAM16 readthrough (CORO7-PAM16), mRNA.																		AGCAGCTGGCGCTCACTTTGG	0.652000											OREG0023580	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		20			13		0	0	1	0	0
UBLCP1	134510	broad.mit.edu	37	5	158696048	158696048	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:158696048G>A	uc003lxq.2	+	1	451	c.125G>A	c.(124-126)cGc>cAc	p.R42H		NM_145049	NP_659486	Q8WVY7	UBCP1_HUMAN	Homo sapiens ubiquitin-like domain containing CTD phosphatase 1 (UBLCP1), mRNA.	42	Ubiquitin-like.					nucleus	phosphoprotein phosphatase activity			endometrium(1)|kidney(3)|large_intestine(4)|ovary(1)	9	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTTCCAGAACGCCAAAAGTTA	0.363000														55			29		0	0	1	0	0
ADH7	131	broad.mit.edu	37	4	100349736	100349736	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:100349736T>C	uc003huv.2	-	2	449	c.208A>G	c.(208-210)Atg>Gtg	p.M70V	ADH7_uc021xqj.1_Missense_Mutation_p.M78V	NM_000673	NP_000664	P40394	ADH7_HUMAN	Homo sapiens alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide (ADH7), transcript variant 2, mRNA.	70					ethanol oxidation|fatty acid omega-oxidation|response to bacterium|response to ethanol|xenobiotic metabolic process	cytosol|soluble fraction	alcohol dehydrogenase activity, zinc-dependent|aldehyde oxidase activity|ethanol binding|receptor antagonist activity|retinol binding|retinol dehydrogenase activity			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)	19				OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)	NADH(DB00157)	TTGGACACCATTGTTCCTTTT	0.433000														148			16		0	0	1	0	0
PER2	8864	broad.mit.edu	37	2	239180112	239180112	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:239180112G>A	uc002vyc.3	-	5	850	c.613C>T	c.(613-615)Ctg>Ttg	p.L205L	PER2_uc010znv.1_Silent_p.L205L|PER2_uc010znw.1_Silent_p.L205L|PER2_uc010fyx.1_Silent_p.L205L	NM_022817	NP_073728	O15055	PER2_HUMAN	Homo sapiens period homolog 2 (Drosophila) (PER2), mRNA.	205	PAS 1.				circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		GAGATGTACAGGATCTTCCCA	0.527000														31			3		0	0	1	0	0
OR6T1	219874	broad.mit.edu	37	11	123814133	123814133	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:123814133C>T	uc010sab.2	-	0	413	c.413G>A	c.(412-414)gGc>gAc	p.G138D		NM_001005187	NP_001005187	Q8NGN1	OR6T1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily T, member 1 (OR6T1), mRNA.	138					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		ACAGACATGGCCATTCATCAG	0.567000														27			16		0	0	1	0	0
THOC1	9984	broad.mit.edu	37	18	265475	265475	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:265475A>C	uc002kkj.4	-	1	150	c.110T>G	c.(109-111)tTc>tGc	p.F37C	THOC1_uc002kkl.2_Missense_Mutation_p.F37C	NM_005131	NP_005122	Q96FV9	THOC1_HUMAN	Homo sapiens THO complex 1 (THOC1), mRNA.	37					RNA splicing|apoptosis|intronless viral mRNA export from host nucleus|mRNA processing|regulation of transcription elongation, DNA-dependent|signal transduction|transcription, DNA-dependent	THO complex part of transcription export complex|cytoplasm|nuclear matrix|nuclear speck	DNA binding|RNA binding|protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	20		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				TACCTGGCTGAAGGTACTTAA	0.343000														4			7		0	0	1	0	0
RETN	56729	broad.mit.edu	37	19	7735145	7735145	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:7735145C>T	uc002mhg.1	+	3	274	c.237C>T	c.(235-237)ggC>ggT	p.G79G	RETN_uc002mhf.1_Silent_p.G79G|RETN_uc010dvm.1_Non-coding_Transcript	NM_001193374	NP_065148	Q9HD89	RETN_HUMAN	Homo sapiens resistin (RETN), transcript variant 2, mRNA.	79							hormone activity			ovary(1)	1						CCGCCTGTGGCTCGTGGGATG	0.697000														5			6		0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152281063	152281063	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:152281063G>T	uc001ezu.1	-	2	6335	c.6299C>A	c.(6298-6300)tCt>tAt	p.S2100Y		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	2100	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGTGGACTCAGACTGTTCATG	0.567000									Ichthyosis					223			21		4.96729e-08	5.78267e-08	1	1	0
TMEM246	84302	broad.mit.edu	37	9	104238794	104238794	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:104238794C>T	uc004bbm.3	-	1	903	c.581G>A	c.(580-582)tGc>tAc	p.C194Y	AK094413_uc004bbl.1_5'Flank|TMEM246_uc022blf.1_Missense_Mutation_p.C194Y	NM_032342	NP_115718	Q9BRR3	CI125_HUMAN	Homo sapiens chromosome 9 open reading frame 125 (C9orf125), mRNA.	194						integral to membrane											TGACTCCAGGCAATAGACATA	0.502000														26			5		0	0	1	0	0
ZBTB3	79842	broad.mit.edu	37	11	62520277	62520277	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:62520277G>A	uc001nuz.3	-	1	1132	c.1010C>T	c.(1009-1011)gCt>gTt	p.A337V		NM_024784	NP_079060	Q9H5J0	ZBTB3_HUMAN	Homo sapiens zinc finger and BTB domain containing 3 (ZBTB3), mRNA.	337	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|ovary(2)|prostate(2)	24						tggaactggagctgagacagg	0.567000														26			27		0	0	1	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85638665	85638665	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:85638665C>T	uc001tac.3	+	26	5226	c.5115C>T	c.(5113-5115)caC>caT	p.H1705H		NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 1 (LRRIQ1), mRNA.	1705										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		ATCAGGCACACAGACACTCAG	0.378000														31			25		0	0	1	0	0
ZBTB7A	51341	broad.mit.edu	37	19	4054046	4054046	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:4054046G>A	uc002lzh.3	-	1	1260	c.1185C>T	c.(1183-1185)ggC>ggT	p.G395G	ZBTB7A_uc002lzi.3_Silent_p.G395G	NM_015898	NP_056982	O95365	ZBT7A_HUMAN	Homo sapiens zinc finger and BTB domain containing 7A (ZBTB7A), mRNA.	395					cell differentiation|multicellular organismal development|transcription, DNA-dependent	nucleus	DNA binding|histone acetyltransferase binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.014)|STAD - Stomach adenocarcinoma(1328;0.18)		GCGGCAGCTTGCCGGCGCCCT	0.657000														38			6		0	0	1	0	0
MECOM	2122	broad.mit.edu	37	3	168802722	168802722	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:168802722G>A	uc011bpj.1	-	16	4098	c.3695C>T	c.(3694-3696)gCt>gTt	p.A1232V	MECOM_uc010hwk.1_3'UTR|MECOM_uc003ffj.3_Missense_Mutation_p.A1109V|MECOM_uc003ffi.3_Missense_Mutation_p.A1044V|MECOM_uc011bpi.1_Missense_Mutation_p.A1036V|MECOM_uc003ffn.3_Missense_Mutation_p.A1044V|MECOM_uc003ffk.2_Missense_Mutation_p.A1035V|MECOM_uc003ffl.2_Missense_Mutation_p.A1195V|MECOM_uc011bpk.1_Missense_Mutation_p.A1044V	NM_004991	NP_004982	Q13465	MDS1_HUMAN	Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA.	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						GGACTGGATAGCACTGGATTC	0.498000														59			32		0	0	1	0	0
SLC35G3	146861	broad.mit.edu	37	17	33520544	33520544	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:33520544G>A	uc002hjd.2	-	0	869	c.783C>T	c.(781-783)atC>atT	p.I261I		NM_152462	NP_689675	Q8N808	AMAC1_HUMAN	Homo sapiens solute carrier family 35, member G3 (SLC35G3), mRNA.	261						integral to membrane											CCAAGGCGAGGATCCCCACTG	0.632000														49			37		0	0	1	0	0
MCF2L	23263	broad.mit.edu	37	13	113729440	113729440	+	Silent	SNP	G	A	A	rs145592732	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:113729440G>A	uc001vsu.3	+	10	1416	c.1416G>A	c.(1414-1416)gcG>gcA	p.A472A	MCF2L_uc001vsq.3_Silent_p.A472A|MCF2L_uc010tjr.2_Silent_p.A415A|MCF2L_uc001vsr.3_Silent_p.A419A|MCF2L_uc001vss.4_Silent_p.A413A|MCF2L_uc010tjs.2_Silent_p.A413A|MCF2L_uc001vst.1_Silent_p.A377A	NM_024979	NP_079255	O15068	MCF2L_HUMAN	Homo sapiens MCF.2 cell line derived transforming sequence-like (MCF2L), transcript variant 2, mRNA.	445					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				AGTTCTCTGCGGAGATCGCAA	0.667000														26			21		0	0	1	0	0
FAM160A2	84067	broad.mit.edu	37	11	6232933	6232933	+	Missense_Mutation	SNP	G	C	C	rs139429864		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6232933G>C	uc001mck.4	-	11	3123	c.2764C>G	c.(2764-2766)Cgg>Ggg	p.R922G	FAM160A2_uc001mcl.4_Missense_Mutation_p.R908G	NM_032127	NP_115503	Q8N612	F16A2_HUMAN	Homo sapiens family with sequence similarity 160, member A2 (FAM160A2), transcript variant 1, mRNA.	908					early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding	p.R922W(2)		NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GCCCCGCCCCGGGTGAGTAGA	0.597000														86			8		0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3229644	3229644	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:3229644C>A	uc004crg.4	-	6	6757	c.6600G>T	c.(6598-6600)gtG>gtT	p.V2200V		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	2200	Ig-like C2-type 6.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CATTGGCAAACACCTTGATTC	0.448000														71			6		0.0215528	0.0220531	1	1	0
DGKH	160851	broad.mit.edu	37	13	42763391	42763391	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:42763391C>T	uc001uyl.2	+	14	1925	c.1858C>T	c.(1858-1860)Cgg>Tgg	p.R620W	DGKH_uc010tfh.2_Missense_Mutation_p.R620W|DGKH_uc001uym.2_Missense_Mutation_p.R620W|DGKH_uc001uyn.2_Non-coding_Transcript|DGKH_uc010tfi.2_Missense_Mutation_p.R375W|DGKH_uc001uyo.2_Missense_Mutation_p.R484W|DGKH_uc010tfj.2_Missense_Mutation_p.R484W|DGKH_uc001uyp.3_Non-coding_Transcript	NM_178009	NP_821077	Q86XP1	DGKH_HUMAN	Homo sapiens diacylglycerol kinase, eta (DGKH), transcript variant 2, mRNA.	620					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization	endosome|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		AATCATGTTGCGGGCAAATAG	0.453000														50			9		0	0	1	0	0
ZC3H3	23144	broad.mit.edu	37	8	144621219	144621219	+	Silent	SNP	C	T	T	rs150401031	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:144621219C>T	uc003yyd.2	-	1	347	c.318G>A	c.(316-318)ccG>ccA	p.P106P		NM_015117	NP_055932	Q8IXZ2	ZC3H3_HUMAN	Homo sapiens zinc finger CCCH-type containing 3 (ZC3H3), mRNA.	106					mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			CATGCTGCTGCGGGACAGGAG	0.632000														55			39		0	0	1	0	0
IRF1	3659	broad.mit.edu	37	5	131819745	131819745	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:131819745C>A	uc003kxa.2	-	9	1110	c.876G>T	c.(874-876)caG>caT	p.Q292H	C5orf56_uc010jds.2_Intron|IRF1_uc003kxd.2_Intron|IRF1_uc003kxb.2_Missense_Mutation_p.Q292H	NM_002198	NP_002189	P10914	IRF1_HUMAN	Homo sapiens interferon regulatory factor 1 (IRF1), mRNA.	292					blood coagulation|cellular response to mechanical stimulus|interferon-gamma-mediated signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleoplasm				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|urinary_tract(1)	11		all_cancers(142;0.026)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	LUAD - Lung adenocarcinoma(142;0.247)		TGAAGACACGCTGTAGACTCA	0.572000														19			8		1.58986e-06	1.80238e-06	1	1	0
POTEH	23784	broad.mit.edu	37	22	16267028	16267028	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:16267028G>A	uc010gqp.2	-	8	1473	c.1421C>T	c.(1420-1422)gCc>gTc	p.A474V	POTEH_uc002zlg.1_Non-coding_Transcript|POTEH_uc002zlh.1_Missense_Mutation_p.A193V|POTEH_uc002zlj.1_Missense_Mutation_p.A309V	NM_001136213	NP_001129685	Q6S545	POTEH_HUMAN	Homo sapiens POTE ankyrin domain family, member H (POTEH), mRNA.	474								p.A474A(1)|p.G473C(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						GTCAGCAGTGGCACCGTTAGT	0.408000														411			40		0	0	1	0	0
ZFR2	23217	broad.mit.edu	37	19	3825226	3825226	+	Splice_Site	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:3825226A>G	uc002lyw.2	-	7	1225	c.1213_splice	c.e7+1	p.G405_splice	ZFR2_uc010xhx.1_Intron	NM_015174	NP_055989	Q9UPR6	ZFR2_HUMAN	Homo sapiens zinc finger RNA binding protein 2 (ZFR2), transcript variant 1, mRNA.	405						intracellular	nucleic acid binding|zinc ion binding			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)		AGACACACGTACCCTCGCATA	0.597000														2			3		0	0	1	0	0
PTGDS	5730	broad.mit.edu	37	9	139873514	139873514	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:139873514T>C	uc004cke.3	+	1	1214	c.184T>C	c.(184-186)Ttg>Ctg	p.L62L	PTGDS_uc004ckd.3_Non-coding_Transcript	NM_000954	NP_000945	P41222	PTGDS_HUMAN	Homo sapiens prostaglandin D2 synthase 21kDa (brain) (PTGDS), mRNA.	62					prostaglandin biosynthetic process|regulation of circadian sleep/wake cycle, sleep	Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum	fatty acid binding|prostaglandin-D synthase activity|retinoid binding|transporter activity			endometrium(2)|kidney(1)|lung(3)|ovary(1)	7	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GAAGGCGGCGTTGTCCATGTG	0.687000														35			4		0	0	1	0	0
POLR1A	25885	broad.mit.edu	37	2	86315723	86315723	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:86315723G>A	uc002sqs.3	-	5	1075	c.696C>T	c.(694-696)caC>caT	p.H232H		NM_015425	NP_056240	O95602	RPA1_HUMAN	Homo sapiens polymerase (RNA) I polypeptide A, 194kDa (POLR1A), mRNA.	232					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						CAGCTGTCCTGTGCACCATGG	0.567000														49			7		0	0	1	0	0
SLC35D1	23169	broad.mit.edu	37	1	67474798	67474798	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:67474798G>A	uc001ddk.2	-	10	1313	c.929C>T	c.(928-930)aCg>aTg	p.T310M	SLC35D1_uc010oph.2_Missense_Mutation_p.T231M	NM_015139	NP_055954	Q9NTN3	S35D1_HUMAN	Homo sapiens solute carrier family 35 (UDP-glucuronic acid/UDP-N-acetylgalactosamine dual transporter), member D1 (SLC35D1), mRNA.	310					UDP-glucuronate biosynthetic process|chondroitin sulfate biosynthetic process|xenobiotic metabolic process	integral to endoplasmic reticulum membrane	UDP-N-acetylgalactosamine transmembrane transporter activity|UDP-glucuronic acid transmembrane transporter activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)	10					Lorazepam(DB00186)	GTTTGTCCACGTGAAAATATA	0.249000														16			6		0	0	1	0	0
THBS1	7057	broad.mit.edu	37	15	39874935	39874935	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:39874935C>T	uc001zkh.3	+	2	788	c.609C>T	c.(607-609)ggC>ggT	p.G203G		NM_003246	NP_003237	P07996	TSP1_HUMAN	Homo sapiens thrombospondin 1 (THBS1), mRNA.	203	TSP N-terminal.				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of cGMP-mediated signaling|negative regulation of caspase activity|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	CAAAGGGGGGCGTCAATGACA	0.557000														13			4		0	0	1	0	0
DYNC2H1	79659	broad.mit.edu	37	11	103027235	103027235	+	Missense_Mutation	SNP	C	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:103027235C>G	uc001phn.1	+	25	4007	c.3863C>G	c.(3862-3864)aCt>aGt	p.T1288S	DYNC2H1_uc009yxe.1_Intron|DYNC2H1_uc001pho.2_Missense_Mutation_p.T1288S	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	Homo sapiens dynein, cytoplasmic 2, heavy chain 1 (DYNC2H1), transcript variant 2, mRNA.	1288	Stem (By similarity).		T -> A (in dbSNP:rs17301750).		Golgi organization|cell projection organization|microtubule-based movement|multicellular organismal development	Golgi apparatus|cilium axoneme|dynein complex|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		CAAAGTCGAACTATGAAGCTG	0.358000														69			8		0	0	1	0	0
SRF	6722	broad.mit.edu	37	6	43143694	43143694	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:43143694C>T	uc003oui.3	+	2	1506	c.1031C>T	c.(1030-1032)aCc>aTc	p.T344I	SRF_uc011dvf.2_Missense_Mutation_p.T140I	NM_003131	NP_003122	P11831	SRF_HUMAN	Homo sapiens serum response factor (c-fos serum response element-binding transcription factor) (SRF), mRNA.	344					angiogenesis involved in wound healing|cell migration involved in sprouting angiogenesis|cellular senescence|heart looping|muscle cell homeostasis|neuron development|positive regulation of cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription via serum response element binding|regulation of smooth muscle cell differentiation|response to cytokine stimulus|response to hormone stimulus|response to toxin|transcription from RNA polymerase II promoter|trophectodermal cell differentiation	endoplasmic reticulum	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|serum response element binding|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	12			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.011)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			ACCAGCTTCACCCTCATGCCT	0.587000														21			13		0	0	1	0	0
IMPAD1	54928	broad.mit.edu	37	8	57876370	57876370	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:57876370T>G	uc003xte.4	-	4	1348	c.1062A>C	c.(1060-1062)gaA>gaC	p.E354D		NM_017813	NP_060283	Q9NX62	IMPA3_HUMAN	Homo sapiens inositol monophosphatase domain containing 1 (IMPAD1), mRNA.	354						Golgi apparatus|integral to membrane	inositol-1(or 4)-monophosphatase activity|metal ion binding			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7		all_cancers(86;0.175)|all_lung(136;0.0321)|Lung NSC(129;0.0417)|all_epithelial(80;0.0448)				GTCCTGTCTTTTCTAGATCTG	0.458000														47			32		0	0	1	0	0
PPP2R3A	5523	broad.mit.edu	37	3	135806764	135806764	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:135806764C>T	uc003eqv.2	+	8	3445	c.2828C>T	c.(2827-2829)gCa>gTa	p.A943V	PPP2R3A_uc011blz.2_Missense_Mutation_p.A207V|PPP2R3A_uc003eqw.2_Missense_Mutation_p.A322V	NM_002718	NP_002709	Q06190	P2R3A_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B'', alpha (PPP2R3A), transcript variant 1, mRNA.	943					protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TTCTCTGGTGCAGTAACAAGG	0.318000														52			20		0	0	1	0	0
HEATR3	55027	broad.mit.edu	37	16	50112928	50112928	+	Splice_Site	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:50112928C>T	uc002efw.3	+	7	1203	c.1041_splice	c.e7+1	p.P347_splice	HEATR3_uc021thv.1_Splice_Site_p.P261_splice|HEATR3_uc002efx.3_Splice_Site_p.P261_splice	NM_182922	NP_891552	Q7Z4Q2	HEAT3_HUMAN	Homo sapiens HEAT repeat containing 3 (HEATR3), mRNA.	347							binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						GATTTACTTCCGGTAAGTCAG	0.343000														57			24		0	0	1	0	0
TOR1A	1861	broad.mit.edu	37	9	132584875	132584875	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:132584875G>A	uc004byl.3	-	1	506	c.429C>T	c.(427-429)aaC>aaT	p.N143N	TOR1A_uc004byn.3_Silent_p.N143N	NM_000113	NP_000104	O14656	TOR1A_HUMAN	Homo sapiens torsin family 1, member A (torsin A) (TOR1A), mRNA.	143					chaperone mediated protein folding requiring cofactor|response to unfolded protein	endoplasmic reticulum lumen|nuclear membrane	ATP binding|serine-type endopeptidase activity|unfolded protein binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	20		Ovarian(14;0.00556)				ACAAGGTGATGTTTGAAGCAT	0.468000														47			7		0	0	1	0	0
HDC	3067	broad.mit.edu	37	15	50555543	50555543	+	Silent	SNP	C	T	T	rs139287451	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:50555543C>T	uc001zxz.3	-	1	435	c.93G>A	c.(91-93)acG>acA	p.T31T	HDC_uc010uff.2_Silent_p.T31T|HDC_uc010bet.2_Silent_p.T31T|HDC_uc010beu.2_Silent_p.T31T	NM_002112	NP_002103	P19113	DCHS_HUMAN	Homo sapiens histidine decarboxylase (HDC), mRNA.	31			T -> M (in dbSNP:rs17740607).		catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	GCACGTCTGGCGTCACACGTC	0.562000														34			27		0	0	1	0	0
IQGAP1	8826	broad.mit.edu	37	15	90972822	90972822	+	Splice_Site	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:90972822C>T	uc002bpl.1	+	4	414	c.313_splice	c.e4-1	p.A105_splice		NM_003870	NP_003861	P46940	IQGA1_HUMAN	Homo sapiens IQ motif containing GTPase activating protein 1 (IQGAP1), mRNA.	105	CH.				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	GTPase inhibitor activity|Ras GTPase activator activity|calmodulin binding|protein phosphatase binding			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			TTTTTCTAGGCGACTGGCCTC	0.343000														40			18		0	0	1	0	0
KLHL6	89857	broad.mit.edu	37	3	183209811	183209811	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:183209811G>A	uc003flr.3	-	6	1828	c.1770C>T	c.(1768-1770)tgC>tgT	p.C590C	KLHL6_uc003fls.1_Non-coding_Transcript|KLHL6_uc003flt.1_3'UTR|KLHL6_uc010hxk.1_Non-coding_Transcript	NM_130446	NP_569713	Q8WZ60	KLHL6_HUMAN	Homo sapiens kelch-like 6 (Drosophila) (KLHL6), mRNA.	590										breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			GGGGCAGGACGCACTCCTCTG	0.652000														47			30		0	0	1	0	0
WDR90	197335	broad.mit.edu	37	16	716482	716482	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:716482G>T	uc002cii.1	+	37	4822	c.4768G>T	c.(4768-4770)Gac>Tac	p.D1590Y	WDR90_uc002cij.1_Intron|WDR90_uc002cil.1_Non-coding_Transcript|WDR90_uc002cin.1_Missense_Mutation_p.D205Y|WDR90_uc002cio.1_Missense_Mutation_p.D189Y|WDR90_uc010bqx.1_Intron|RHOT2_uc010uum.2_5'Flank|RHOT2_uc002cip.3_5'Flank|RHOT2_uc002ciq.3_5'Flank	NM_145294	NP_660337	Q96KV7	WDR90_HUMAN	Homo sapiens WD repeat domain 90 (WDR90), mRNA.	1590										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				GGAGGGCACAGACCTATGGCT	0.632000														28			19		1.40151e-16	1.77771e-16	1	1	0
DISP2	85455	broad.mit.edu	37	15	40661824	40661824	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:40661824C>T	uc001zlk.1	+	7	3600	c.3511C>T	c.(3511-3513)Cgt>Tgt	p.R1171C		NM_033510	NP_277045	A7MBM2	DISP2_HUMAN	Homo sapiens dispatched homolog 2 (Drosophila) (DISP2), mRNA.	1171					smoothened signaling pathway	integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		CCTGGCACGGCGTCGGAGCCC	0.652000														58			30		0	0	1	0	0
MCCC2	64087	broad.mit.edu	37	5	70922494	70922494	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:70922494G>A	uc003kbs.4	+	6	790	c.652G>A	c.(652-654)Gca>Aca	p.A218T	MCCC2_uc010iyv.1_Missense_Mutation_p.A218T|MCCC2_uc003kbt.4_Intron|MCCC2_uc003kbu.1_Missense_Mutation_p.A87T	NM_022132	NP_071415	Q9HCC0	MCCB_HUMAN	Homo sapiens methylcrotonoyl-CoA carboxylase 2 (beta) (MCCC2), nuclear gene encoding mitochondrial protein, mRNA.	218	Carboxyltransferase.		A -> T (in MCC2 deficiency).		leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|methylcrotonoyl-CoA carboxylase activity			endometrium(2)|kidney(15)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	30		Lung NSC(167;0.000697)|Prostate(74;0.0107)|Ovarian(174;0.0175)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.04e-54)	Biotin(DB00121)	CTCCTGCACCGCAGGAGGAGC	0.498000														29			22		0	0	1	0	0
MTA1	9112	broad.mit.edu	37	14	105930811	105930811	+	Silent	SNP	C	T	T	rs139203829		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:105930811C>T	uc001yqx.3	+	13	1438	c.1251C>T	c.(1249-1251)tgC>tgT	p.C417C	MTA1_uc001yqy.3_Missense_Mutation_p.R402C|MTA1_uc021seq.1_Silent_p.C417C|MTA1_uc001yrb.3_Silent_p.C178C	NM_004689	NP_004680	Q13330	MTA1_HUMAN	Homo sapiens metastasis associated 1 (MTA1), transcript variant 1, mRNA.	417					signal transduction	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|stomach(1)	14		all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.19)		GTCGTCTCTGCGCATCTTGTT	0.483000														34			34		0	0	1	0	0
F8	2157	broad.mit.edu	37	X	154156921	154156921	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:154156921C>T	uc004fmt.3	-	13	5315	c.5144G>A	c.(5143-5145)cGa>cAa	p.R1715Q		NM_000132	NP_000123	P00451	FA8_HUMAN	Homo sapiens coagulation factor VIII, procoagulant component (F8), transcript variant 1, mRNA.	1715	F5/8 type A 3.|Plastocyanin-like 5.		R -> G (in HEMA; mild).		acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	p.R1715*(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	AAAATAGTGTCGTGTTTTCTT	0.398000														57			5		0	0	1	0	0
CD274	29126	broad.mit.edu	37	9	5457177	5457177	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:5457177G>A	uc003zje.3	+	2	259	c.151G>A	c.(151-153)Gct>Act	p.A51T	PLGRKT_uc003zjd.3_Intron|CD274_uc011lmb.2_Missense_Mutation_p.A51T|CD274_uc010mhn.3_Non-coding_Transcript|CD274_uc003zjf.3_Intron	NM_014143	NP_054862	Q9NZQ7	PD1L1_HUMAN	Homo sapiens CD274 molecule (CD274), mRNA.	51	Ig-like V-type.				T cell costimulation|cell proliferation|cell surface receptor linked signaling pathway|immune response	endomembrane system|integral to membrane	receptor activity			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	11	all_hematologic(13;0.158)	Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000742)|Lung(218;0.111)		ATTAGACCTGGCTGCACTAAT	0.403000			T	CIITA	"""PMBL, Hodgkin Lymphona, """									42			28		0	0	1	0	0
PLEKHO1	51177	broad.mit.edu	37	1	150128391	150128391	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:150128391C>T	uc001ett.3	+	2	587	c.309C>T	c.(307-309)ccC>ccT	p.P103P	PLEKHO1_uc001ets.3_5'UTR|PLEKHO1_uc001etu.3_5'UTR|PLEKHO1_uc021oyc.1_5'Flank	NM_016274	NP_057358	Q53GL0	PKHO1_HUMAN	Homo sapiens pleckstrin homology domain containing, family O member 1 (PLEKHO1), mRNA.	103	PH.					cytoplasm|nucleus|plasma membrane				breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	22	Lung NSC(24;7.78e-28)|Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCAAACAGCCCGGTAACACGG	0.527000														41			32		0	0	1	0	0
TRAF6	7189	broad.mit.edu	37	11	36512081	36512081	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:36512081G>A	uc001mwq.2	-	7	1257	c.876C>T	c.(874-876)gtC>gtT	p.V292V	TRAF6_uc001mws.2_Silent_p.V292V	NM_145803	NP_665802	Q9Y4K3	TRAF6_HUMAN	Homo sapiens TNF receptor-associated factor 6 (TRAF6), transcript variant 1, mRNA.	292	Interaction with TAX1BP1.				JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T cell receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|innate immune response|membrane protein intracellular domain proteolysis|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|ossification|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|positive regulation of interleukin-2 production|positive regulation of osteoclast differentiation|protein K63-linked ubiquitination|protein autoubiquitination|response to interleukin-1|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cell cortex|cytosol|endosome membrane|internal side of plasma membrane|nuclear membrane	histone deacetylase binding|mitogen-activated protein kinase kinase kinase binding|protein N-terminus binding|protein kinase B binding|ubiquitin-protein ligase activity|zinc ion binding	p.E291K(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)	27	all_lung(20;0.211)	all_hematologic(20;0.107)				GGAAATTCCGGACCTCTGAGA	0.478000														91			46		0	0	1	0	0
PKN1	5585	broad.mit.edu	37	19	14561175	14561175	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:14561175G>A	uc002myp.3	+	4	824	c.656G>A	c.(655-657)cGg>cAg	p.R219Q	PKN1_uc002myq.3_Missense_Mutation_p.R225Q	NM_002741	NP_002732	Q16512	PKN1_HUMAN	Homo sapiens protein kinase N1 (PKN1), transcript variant 2, mRNA.	219					activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	endosome|nucleus|plasma membrane	ATP binding|GTP-Rho binding|Rac GTPase binding|androgen receptor binding|chromatin binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding			breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						GAAGAGCTGCGGCACCACTTC	0.667000														7			5		0	0	1	0	0
ADAM19	8728	broad.mit.edu	37	5	156940493	156940493	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:156940493G>A	uc003lwz.3	-	7	766	c.687C>T	c.(685-687)gaC>gaT	p.D229D	ADAM19_uc003lww.2_5'UTR|ADAM19_uc011ddr.1_Silent_p.D160D	NM_033274	NP_150377	Q9H013	ADA19_HUMAN	Homo sapiens ADAM metallopeptidase domain 19 (ADAM19), mRNA.	229	Peptidase M12B.				proteolysis	integral to membrane	SH3 domain binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TGGCGTCCTGGTCTCGTCGAT	0.493000														43			30		0	0	1	0	0
EPB41L3	23136	broad.mit.edu	37	18	5419723	5419723	+	Missense_Mutation	SNP	C	T	T	rs117538203	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:5419723C>T	uc002kmt.1	-	11	1579	c.1493G>A	c.(1492-1494)cGg>cAg	p.R498Q	EPB41L3_uc010wzh.1_Missense_Mutation_p.R516Q|EPB41L3_uc002kmu.1_Missense_Mutation_p.R516Q|EPB41L3_uc010dkq.1_Missense_Mutation_p.R407Q|EPB41L3_uc002kms.1_5'UTR|EPB41L3_uc010wze.1_5'UTR|EPB41L3_uc010wzf.1_5'UTR|EPB41L3_uc010wzg.1_5'UTR|EPB41L3_uc010dkr.2_Missense_Mutation_p.R77Q	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1-like 3 (EPB41L3), mRNA.	498	Hydrophilic.			R -> Q (in Ref. 1; AAC79806).	cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						TCCCTCGTGCCGGATGGCCGA	0.547000														40			29		0	0	1	0	0
SV2B	9899	broad.mit.edu	37	15	91801681	91801681	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:91801681A>C	uc002bqv.3	+	5	1706	c.815A>C	c.(814-816)cAc>cCc	p.H272P	SV2B_uc002bqt.3_Missense_Mutation_p.H272P|SV2B_uc002bqu.4_Non-coding_Transcript|SV2B_uc010uqv.2_Missense_Mutation_p.H121P	NM_014848	NP_055663	Q7L1I2	SV2B_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2B (SV2B), transcript variant 1, mRNA.	272					neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			ACCAATTACCACTTCCATAGC	0.522000														53			8		0	0	1	0	0
TOB2	10766	broad.mit.edu	37	22	41833168	41833168	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:41833168C>A	uc003azz.1	-	1	889	c.182G>T	c.(181-183)gGg>gTg	p.G61V	TOB2_uc021wqf.1_Missense_Mutation_p.G61V	NM_016272	NP_057356	Q14106	TOB2_HUMAN	Homo sapiens transducer of ERBB2, 2 (TOB2), mRNA.	61					female gamete generation|negative regulation of cell proliferation	cytoplasm|nucleus		p.G61W(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						CACCATCTCCCCAATGTGAAC	0.577000														43			6		0.0293803	0.0299714	1	1	0
UMODL1	89766	broad.mit.edu	37	21	43524044	43524044	+	Missense_Mutation	SNP	G	A	A	rs142481877		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:43524044G>A	uc002zag.1	+	8	1366	c.1366G>A	c.(1366-1368)Gtg>Atg	p.V456M	UMODL1_uc002zad.1_Missense_Mutation_p.V384M|UMODL1_uc002zae.1_Missense_Mutation_p.V384M|UMODL1_uc002zaf.1_Missense_Mutation_p.V456M|UMODL1_uc010gow.1_Missense_Mutation_p.V248M|UMODL1_uc002zai.1_Missense_Mutation_p.V107M|UMODL1_uc010gox.1_Non-coding_Transcript|UMODL1_uc010goy.1_Missense_Mutation_p.V107M|UMODL1_uc002zaj.1_Non-coding_Transcript|UMODL1_uc010goz.1_Missense_Mutation_p.V201M|C21orf128_uc002zak.2_Silent_p.H63H	NM_173568	NP_001186456	Q5DID0	UROL1_HUMAN	Homo sapiens uromodulin-like 1 (UMODL1), transcript variant 2, mRNA.	456	SEA 1.					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						AATGCAGATCGTGTCTCTCCA	0.592000														82			40		0	0	1	0	0
NLRP5	126206	broad.mit.edu	37	19	56572787	56572787	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:56572787C>T	uc002qmj.3	+	14	3496	c.3496C>T	c.(3496-3498)Caa>Taa	p.Q1166*	NLRP5_uc002qmi.3_Nonsense_Mutation_p.Q1147*	NM_153447	NP_703148	P59047	NALP5_HUMAN	Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.	1166						mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		GTACCCTGTGCAAATAAGGAA	0.498000														52			8		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21231046	21231046	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:21231046C>T	uc002red.3	-	25	8822	c.8694G>A	c.(8692-8694)ctG>ctA	p.L2898L		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	2898					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TAGAGAAGTCCAGTTTGGGGA	0.443000														200			15		0	0	1	0	0
MAF	4094	broad.mit.edu	37	16	79633678	79633678	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:79633678C>T	uc002ffm.3	-	0	945	c.122G>A	c.(121-123)cGc>cAc	p.R41H	MAF_uc002ffn.3_Missense_Mutation_p.R41H	NM_005360	NP_005351	O75444	MAF_HUMAN	Homo sapiens v-maf musculoaponeurotic fibrosarcoma oncogene homolog (avian) (MAF), transcript variant 1, mRNA.	41					transcription from RNA polymerase II promoter	chromatin|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)	10		all_epithelial(2;0.139)|Lung NSC(2;0.186)|Melanoma(2;0.211)		UCEC - Uterine corpus endometrioid carcinoma (2;0.0178)		GCTGATGATGCGGTCGGTCTC	0.607000			T	IGH@	MM									30			4		0	0	1	0	0
LAMA1	284217	broad.mit.edu	37	18	7044729	7044729	+	Missense_Mutation	SNP	G	A	A	rs147036555		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:7044729G>A	uc002knm.3	-	6	1062	c.968C>T	c.(967-969)aCa>aTa	p.T323I	LAMA1_uc010wzj.2_5'UTR	NM_005559	NP_005550	P25391	LAMA1_HUMAN	Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	323	Laminin EGF-like 1.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ACCTTCACATGTATTGCCGGA	0.468000														75			51		0	0	1	0	0
RASGRF1	5923	broad.mit.edu	37	15	79339118	79339118	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:79339118T>C	uc002beq.3	-	4	1223	c.848A>G	c.(847-849)cAc>cGc	p.H283R	RASGRF1_uc002bep.3_Missense_Mutation_p.H283R|RASGRF1_uc010blm.1_Missense_Mutation_p.H205R|RASGRF1_uc002ber.4_Missense_Mutation_p.H283R	NM_002891	NP_002882	Q13972	RGRF1_HUMAN	Homo sapiens Ras protein-specific guanine nucleotide-releasing factor 1 (RASGRF1), transcript variant 1, mRNA.	283	DH.				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GACGTCGTCGTGTGTGATGGG	0.582000														52			28		0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144945427	144945427	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:144945427C>A	uc003zaa.1	-	0	2008	c.1995G>T	c.(1993-1995)gaG>gaT	p.E665D		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	665						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TCAGTGCCTCCTCAACGGAGT	0.627000														19			4		0.150653	0.152248	1	1	0
MAGEA6	4105	broad.mit.edu	37	X	151870016	151870016	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:151870016G>T	uc022chf.1	+	0	706	c.706G>T	c.(706-708)Gac>Tac	p.D236Y	MAGEA6_uc004ffq.1_Missense_Mutation_p.D236Y|MAGEA6_uc004ffr.1_Missense_Mutation_p.D236Y	NM_175868	NP_787064	P43360	MAGA6_HUMAN	Homo sapiens melanoma antigen family A, 6 (MAGEA6), transcript variant 2, mRNA.	236	MAGE.						protein binding			breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					GGGGAGGGAAGACAGTATCTT	0.532000														190			18		6.94344e-10	8.32448e-10	1	1	0
APPL1	26060	broad.mit.edu	37	3	57302429	57302429	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:57302429C>T	uc003dio.3	+	20	2044	c.1897C>T	c.(1897-1899)Cgt>Tgt	p.R633C	APPL1_uc011bey.1_Missense_Mutation_p.R616C|ASB14_uc003dip.1_3'UTR|ASB14_uc003diq.3_3'UTR	NM_012096	NP_036228	Q9UKG1	DP13A_HUMAN	Homo sapiens adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1 (APPL1), mRNA.	633	PID.				apoptosis|cell cycle|cell proliferation|insulin receptor signaling pathway|regulation of apoptosis|regulation of establishment of protein localization in plasma membrane|regulation of glucose import	cytosol|early endosome membrane|microsome|nucleus|vesicle membrane	protein kinase B binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(10)|liver(2)|lung(4)|prostate(2)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)		TCTTTAGGATCGTAGGGCATC	0.269000														8			5		0	0	1	0	0
MYEF2	50804	broad.mit.edu	37	15	48435115	48435115	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:48435115C>T	uc001zwi.4	-	16	1917	c.1793G>A	c.(1792-1794)cGt>cAt	p.R598H	MYEF2_uc001zwg.4_Missense_Mutation_p.R136H|MYEF2_uc001zwh.4_Missense_Mutation_p.R186H|MYEF2_uc001zwj.4_Missense_Mutation_p.R574H	NM_016132	NP_057216	Q9P2K5	MYEF2_HUMAN	Homo sapiens myelin expression factor 2 (MYEF2), mRNA.	598	RRM 3.				transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding|RNA binding|nucleotide binding	p.D597G(1)		endometrium(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		all_lung(180;0.00217)		all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07)		TTATGCATTACGATCCAAGCG	0.363000														95			13		0	0	1	0	0
GHRH	2691	broad.mit.edu	37	20	35884894	35884894	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:35884894G>A	uc002xgr.3	-	1	110	c.91C>T	c.(91-93)Cgg>Tgg	p.R31W	GHRH_uc021wdc.1_Missense_Mutation_p.R31W|GHRH_uc002xgt.3_Missense_Mutation_p.R31W|GHRH_uc002xgs.3_Missense_Mutation_p.R31W	NM_021081	NP_066567	P01286	SLIB_HUMAN	Homo sapiens growth hormone releasing hormone (GHRH), transcript variant 1, mRNA.	31					activation of adenylate cyclase activity by G-protein signaling pathway|adenohypophysis development|growth hormone secretion|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of circadian sleep/wake cycle, REM sleep|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to food	extracellular space|terminal button	growth hormone-releasing hormone activity|growth hormone-releasing hormone receptor binding			lung(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	4		Myeloproliferative disorder(115;0.00878)				TCTGCATACCGCCGCATCCTG	0.632000														29			19		0	0	1	0	0
PPM1K	152926	broad.mit.edu	37	4	89199408	89199408	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:89199408G>A	uc003hrm.4	-	1	718	c.328C>T	c.(328-330)Cgg>Tgg	p.R110W	PPM1K_uc010ikp.1_Missense_Mutation_p.R110W|PPM1K_uc003hrn.3_Missense_Mutation_p.R110W	NM_152542	NP_689755	Q8N3J5	PPM1K_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1K (PPM1K), nuclear gene encoding mitochondrial protein, mRNA.	110	PP2C-like.				protein dephosphorylation	mitochondrial matrix|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	13		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000192)		AAGTCAAACCGATCTTCATTC	0.498000														23			9		0	0	1	0	0
CLEC18B	497190	broad.mit.edu	37	16	74447532	74447532	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:74447532G>T	uc002fct.3	-	3	699	c.499C>A	c.(499-501)Ctg>Atg	p.L167M	CLEC18B_uc002fcu.3_Missense_Mutation_p.L167M|CLEC18B_uc010vmu.1_Missense_Mutation_p.L87M|CLEC18B_uc010vmw.1_Missense_Mutation_p.L167M|CLEC18B_uc010vmv.1_5'Flank	NM_001011880	NP_001011880	Q6UXF7	CL18B_HUMAN	Homo sapiens C-type lectin domain family 18, member B (CLEC18B), mRNA.	167	SCP.					extracellular region	sugar binding			endometrium(3)|kidney(9)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						GCAGAGCACAGGTGCCGCCCA	0.617000														151			12		1.49906e-05	1.66078e-05	1	1	0
OR6K3	391114	broad.mit.edu	37	1	158687330	158687330	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:158687330C>T	uc021pbn.1	-	0	576	c.576G>A	c.(574-576)acG>acA	p.T192T		NM_001005327	NP_001005327	Q8NGY3	OR6K3_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily K, member 3 (OR6K3), mRNA.	208					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41	all_hematologic(112;0.0378)					GAATCATGGACGTGTCTGTAC	0.448000														53			32		0	0	1	0	0
NOTCH1	4851	broad.mit.edu	37	9	139397730	139397730	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:139397730G>A	uc004chz.3	-	26	5071	c.5071C>T	c.(5071-5073)Cag>Tag	p.Q1691*	NOTCH1_uc004cia.1_Nonsense_Mutation_p.Q921*	NM_017617	NP_060087	P46531	NOTC1_HUMAN	Homo sapiens notch 1 (NOTCH1), mRNA.	1691					Notch receptor processing|aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		TGGAAGCACTGCGAGGAGGCC	0.637000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)				24			12		0	0	1	0	0
SLC6A20	54716	broad.mit.edu	37	3	45801444	45801444	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:45801444C>T	uc011bai.2	-	9	1658	c.1534G>A	c.(1534-1536)Gta>Ata	p.V512I	SLC6A20_uc003cow.3_Missense_Mutation_p.V162I|SLC6A20_uc011baj.2_Missense_Mutation_p.V475I	NM_020208	NP_064593	Q9NP91	S6A20_HUMAN	Homo sapiens solute carrier family 6 (proline IMINO transporter), member 20 (SLC6A20), transcript variant 1, mRNA.	512					cellular nitrogen compound metabolic process|glycine transport|proline transport	apical plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	p.V475L(1)|p.V512L(1)		breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		AGTGGGCTTACGCCAGCCCAC	0.537000														62			39		0	0	1	0	0
TECPR1	25851	broad.mit.edu	37	7	97862928	97862928	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:97862928T>C	uc003upg.3	-	10	1682	c.1477A>G	c.(1477-1479)Aag>Gag	p.K493E	TECPR1_uc003uph.1_Missense_Mutation_p.K423E	NM_015395	NP_056210	Q7Z6L1	TCPR1_HUMAN	Homo sapiens tectonin beta-propeller repeat containing 1 (TECPR1), mRNA.	493						integral to membrane	protein binding			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						TTGGCCTCCTTGAGGTCAATA	0.692000														36			4		0	0	1	0	0
AGAP1	116987	broad.mit.edu	37	2	236649637	236649637	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:236649637A>G	uc002vvs.3	+	3	939	c.341A>G	c.(340-342)gAt>gGt	p.D114G	AGAP1_uc002vvt.3_Missense_Mutation_p.D114G|AGAP1_uc021vyp.1_Missense_Mutation_p.D114G	NM_001037131	NP_001032208	Q9UPQ3	AGAP1_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 (AGAP1), transcript variant 1, mRNA.	114	Small GTPase-like.				protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						ATTGTCGTTGATGGACAGAGC	0.527000														45			6		0	0	1	0	0
PSG4	5672	broad.mit.edu	37	19	43708105	43708105	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:43708105G>T	uc002ovy.3	-	1	465	c.363C>A	c.(361-363)acC>acA	p.T121T	PSG4_uc002ovz.3_Silent_p.T121T|PSG4_uc002owb.3_Silent_p.T121T	NM_002780	NP_002771	Q00888	PSG4_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 4 (PSG4), transcript variant 1, mRNA.	121	Ig-like V-type.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				TGATGTGTAAGGTGTAGGATC	0.483000														135			82		2.80266e-47	3.73318e-47	1	1	0
SLC44A2	57153	broad.mit.edu	37	19	10742775	10742775	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10742775C>A	uc002mpf.3	+	9	905	c.766C>A	c.(766-768)Ctg>Atg	p.L256M	SLC44A2_uc002mpe.4_Missense_Mutation_p.L254M|SLC44A2_uc002mpg.1_5'Flank	NM_020428	NP_065161	Q8IWA5	CTL2_HUMAN	Homo sapiens solute carrier family 44, member 2 (SLC44A2), transcript variant 1, mRNA.	256					positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane|plasma membrane	choline transmembrane transporter activity|signal transducer activity			NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27			Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		Choline(DB00122)	GCTTCGCTTCCTGGCTGGTAT	0.552000														143			11		0.010729	0.011087	1	1	0
PLEC	5339	broad.mit.edu	37	8	145011406	145011406	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:145011406C>T	uc003zaf.1	-	3	850	c.680G>A	c.(679-681)cGg>cAg	p.R227Q	PLEC_uc003zab.1_Missense_Mutation_p.R90Q|PLEC_uc003zac.1_Missense_Mutation_p.R94Q|PLEC_uc003zad.2_Missense_Mutation_p.R90Q|PLEC_uc003zae.1_Missense_Mutation_p.R58Q|PLEC_uc003zag.1_Missense_Mutation_p.R68Q|PLEC_uc003zah.2_Missense_Mutation_p.R76Q|PLEC_uc003zaj.2_Missense_Mutation_p.R117Q	NM_201380	NP_958782	Q15149	PLEC_HUMAN	Homo sapiens plectin (PLEC), transcript variant 6, mRNA.	227	Actin-binding.|CH 1.|Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CCCCTTCTCCCGGGGCTGTGG	0.677000														16			6		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	107012998	107012998	+	RNA	SNP	G	A	A	rs113334719		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:107012998G>A	uc021ser.1	-	218		c.8878C>T								Parts of antibodies, mostly variable regions.																		GCAGATAGGCGATGCTTTTGG	0.478000														91			39		0	0	1	0	0
INPPL1	3636	broad.mit.edu	37	11	71939482	71939482	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:71939482C>A	uc001osf.3	+	2	484	c.337C>A	c.(337-339)Ctg>Atg	p.L113M	INPPL1_uc001osg.3_5'UTR	NM_001567	NP_001558	O15357	SHIP2_HUMAN	Homo sapiens inositol polyphosphate phosphatase-like 1 (INPPL1), mRNA.	113	SH2.				actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	SH2 domain binding|SH3 domain binding|actin binding	p.A112P(1)		breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						TGTGTGCGCCCTGCTTCTTCC	0.672000														66			14		1.3612e-06	1.54683e-06	1	1	0
ZSCAN18	65982	broad.mit.edu	37	19	58596375	58596375	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58596375C>T	uc010yht.1	-	6	1408	c.1378G>A	c.(1378-1380)Gag>Aag	p.E460K	ZSCAN18_uc002qrj.3_Missense_Mutation_p.E403K|ZSCAN18_uc010yhs.1_Missense_Mutation_p.E268K|ZSCAN18_uc002qrh.2_Missense_Mutation_p.E404K|ZSCAN18_uc002qri.2_Missense_Mutation_p.E404K|ZSCAN18_uc002qrk.1_3'UTR|ZSCAN18_uc002qrl.2_3'UTR	NM_001145542	NP_001139014	Q8TBC5	ZSC18_HUMAN	Homo sapiens zinc finger and SCAN domain containing 18 (ZSCAN18), transcript variant 1, mRNA.	404					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		AAGCCCGGCTCGTCAGCCCCA	0.736000														6			3		0	0	1	0	0
SOGA2	23255	broad.mit.edu	37	18	8826086	8826086	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:8826086C>T	uc002knr.2	+	14	4720	c.4578C>T	c.(4576-4578)ctC>ctT	p.L1526L	SOGA2_uc002knq.2_Silent_p.L1485L|SOGA2_uc002kns.2_Silent_p.L866L	NM_015210	NP_056025	Q9Y4B5	CC165_HUMAN	Homo sapiens coiled-coil domain containing 165 (CCDC165), mRNA.	1836																	GCTACACGCTCACTGAGAACG	0.632000														5			3		0	0	1	0	0
PPP4R2	151987	broad.mit.edu	37	3	73096445	73096445	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:73096445C>T	uc003dph.1	+	2	295	c.225C>T	c.(223-225)gtC>gtT	p.V75V	PPP4R2_uc003dpi.1_Intron	NM_174907	NP_777567	Q9NY27	PP4R2_HUMAN	Homo sapiens protein phosphatase 4, regulatory subunit 2 (PPP4R2), mRNA.	75					RNA splicing|mRNA processing|protein modification process|regulation of double-strand break repair via homologous recombination	centrosome|nucleus|protein phosphatase 4 complex	protein binding, bridging|protein phosphatase type 4 regulator activity			breast(2)|endometrium(1)|large_intestine(1)|lung(3)|skin(2)|stomach(1)|urinary_tract(2)	12		Prostate(10;0.0187)|Lung SC(41;0.236)		Epithelial(33;1.76e-07)|BRCA - Breast invasive adenocarcinoma(55;9.42e-05)|LUSC - Lung squamous cell carcinoma(21;0.00211)|Lung(16;0.00643)|KIRC - Kidney renal clear cell carcinoma(39;0.0164)|Kidney(39;0.0193)|OV - Ovarian serous cystadenocarcinoma(275;0.031)		ACCCTAATGTCGAATATATTC	0.348000														22			13		0	0	1	0	0
PROCA1	147011	broad.mit.edu	37	17	27031790	27031790	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:27031790C>T	uc002hcb.3	-	2	372	c.169G>A	c.(169-171)Gcc>Acc	p.A57T	PROCA1_uc010crv.2_5'UTR|PROCA1_uc002hca.1_Missense_Mutation_p.A55T	NM_152465	NP_689678	Q8NCQ7	PRCA1_HUMAN	Homo sapiens protein interacting with cyclin A1 (PROCA1), mRNA.	83					lipid catabolic process		calcium ion binding|phospholipase A2 activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(4)|ovary(1)|urinary_tract(1)	16	Lung NSC(42;0.00431)					CAGTCAGAGGCGAAAGGGTAG	0.592000														30			21		0	0	1	0	0
TH1L	51497	broad.mit.edu	37	20	57561832	57561832	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:57561832C>T	uc002yag.3	+	2	254	c.227C>T	c.(226-228)cCa>cTa	p.P76L	TH1L_uc010zzu.1_Missense_Mutation_p.P76L|TH1L_uc002yaf.1_Non-coding_Transcript	NM_198976	NP_945327	Q8IXH7	NELFD_HUMAN	Homo sapiens TH1-like (Drosophila) (TH1L), transcript variant 1, mRNA.	76					negative regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein binding			breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23	all_lung(29;0.00711)		Colorectal(105;0.109)			GGAGGGTCTCCAGAGAATGTT	0.493000														159			19		0	0	1	0	0
AIM1L	55057	broad.mit.edu	37	1	26663841	26663841	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:26663841C>T	uc001bmd.4	-	9	3824	c.3674G>A	c.(3673-3675)cGg>cAg	p.R1225Q	AIM1L_uc001bmf.3_Missense_Mutation_p.R71Q	NM_001039775	NP_001034864	Q8N1P7	AIM1L_HUMAN	Homo sapiens absent in melanoma 1-like (AIM1L), mRNA.	180							sugar binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|pancreas(1)|skin(2)	12		all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239)		CTGGTGGCCCCGGAAGCCCTC	0.602000														26			20		0	0	1	0	0
GAD1	2571	broad.mit.edu	37	2	171675163	171675163	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:171675163C>T	uc002ugi.3	+	1	484	c.62C>T	c.(61-63)aCc>aTc	p.T21I	GAD1_uc002ugh.3_Missense_Mutation_p.T21I	NM_000817	NP_000808	Q99259	DCE1_HUMAN	Homo sapiens glutamate decarboxylase 1 (brain, 67kDa) (GAD1), transcript variant GAD67, mRNA.	21					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	GACCCCAATACCACTAACCTG	0.627000														51			19		0	0	1	0	0
SAMD9	54809	broad.mit.edu	37	7	92731698	92731698	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:92731698A>C	uc003umf.3	-	2	3983	c.3713T>G	c.(3712-3714)aTt>aGt	p.I1238S	SAMD9_uc003umg.3_Missense_Mutation_p.I1238S|SAMD9_uc022ahg.1_Missense_Mutation_p.I1238S	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	Homo sapiens sterile alpha motif domain containing 9 (SAMD9), transcript variant 1, mRNA.	1238						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			ATCCCCTGGAATATCACTACT	0.274000														100			20		0	0	1	0	0
CDC42BPB	9578	broad.mit.edu	37	14	103452906	103452906	+	Missense_Mutation	SNP	G	T	T	rs62006862		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:103452906G>T	uc001ymi.1	-	5	840	c.608C>A	c.(607-609)cCt>cAt	p.P203H		NM_006035	NP_006026	Q9Y5S2	MRCKB_HUMAN	Homo sapiens CDC42 binding protein kinase beta (DMPK-like) (CDC42BPB), mRNA.	203	Protein kinase.				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		GACATTGTCAGGTTTAATGTC	0.383000														69			9		1.58986e-06	1.80238e-06	1	1	0
ALAD	210	broad.mit.edu	37	9	116150638	116150638	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:116150638G>T	uc011lxf.2	-	11	1137	c.935C>A	c.(934-936)gCt>gAt	p.A312D	ALAD_uc011lxe.2_Missense_Mutation_p.A295D|ALAD_uc004bhl.4_Missense_Mutation_p.A341D	NM_000031	NP_000022	P13716	HEM2_HUMAN	Homo sapiens aminolevulinate dehydratase (ALAD), mRNA.	312					heme biosynthetic process|protein homooligomerization	cytosol	identical protein binding|lead ion binding|porphobilinogen synthase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|stomach(1)	9					Aminolevulinic acid(DB00855)	GATGATGTCAGCACCTGTGTT	0.547000														53			7		0.0293803	0.0299714	1	1	0
FASTKD5	60493	broad.mit.edu	37	20	3129661	3129661	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:3129661G>T	uc021vzx.1	-	0	56	c.56C>A	c.(55-57)cCt>cAt	p.P19H	LOC100134015_uc002whv.1_Intron|UBOX5_uc002whw.3_Intron|UBOX5_uc002whx.3_Intron|UBOX5_uc002why.1_Intron|FASTKD5_uc002whz.3_Missense_Mutation_p.P19H	NM_021826	NP_068598	Q7L8L6	FAKD5_HUMAN	Homo sapiens FAST kinase domains 5 (FASTKD5), mRNA.	19					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						AAAGGCAGAAGGACTGCAAAA	0.478000														74			6		0.0215528	0.0220531	1	1	0
ADAMTS5	11096	broad.mit.edu	37	21	28338410	28338410	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:28338410C>A	uc002ymg.3	-	0	1030	c.301G>T	c.(301-303)Gac>Tac	p.D101Y		NM_007038	NP_008969	Q9UNA0	ATS5_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 5 (ADAMTS5), mRNA.	101					proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						CGCTCCAGGTCCAAGAGGAAC	0.682000														39			35		3.76114e-14	4.70443e-14	1	1	0
RPS11	6205	broad.mit.edu	37	19	50001210	50001210	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:50001210T>C	uc002pob.1	+	3	340	c.260T>C	c.(259-261)gTc>gCc	p.V87A		NM_001015	NP_001006	P62280	RS11_HUMAN	Homo sapiens ribosomal protein S11 (RPS11), mRNA.	87					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	protein binding|rRNA binding|structural constituent of ribosome			kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	7		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00206)|GBM - Glioblastoma multiforme(486;0.0245)		AGGACCATTGTCATCCGCCGA	0.572000														34			9		0	0	1	0	0
MTCH2	23788	broad.mit.edu	37	11	47647241	47647241	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:47647241G>T	uc010rho.2	-	10	923	c.734C>A	c.(733-735)gCt>gAt	p.A245D	MTCH2_uc010rhp.2_Missense_Mutation_p.A97D	NM_014342	NP_055157	Q9Y6C9	MTCH2_HUMAN	Homo sapiens mitochondrial carrier 2 (MTCH2), nuclear gene encoding mitochondrial protein, mRNA.	245					transport	integral to membrane|mitochondrial inner membrane				endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	11						GTTGTTGACAGCCATAAGATT	0.403000														58			48		4.25531e-23	5.5398e-23	1	1	0
AR	367	broad.mit.edu	37	X	66765080	66765080	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:66765080G>A	uc004dwu.2	+	0	1207	c.92G>A	c.(91-93)cGc>cAc	p.R31H	AR_uc011mpd.2_Missense_Mutation_p.R31H|AR_uc011mpe.1_Non-coding_Transcript|AR_uc011mpf.1_Missense_Mutation_p.R31H|AR_uc022byj.1_Non-coding_Transcript|AR_uc022byk.1_Missense_Mutation_p.R31H	NM_000044	NP_000035	P10275	ANDR_HUMAN	Homo sapiens androgen receptor (AR), transcript variant 1, mRNA.	31	Modulating.				cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)	CAGAGCGTGCGCGAAGTGATC	0.647000									Androgen Insensitivity Syndrome					32			15		0	0	1	0	0
MPP3	4356	broad.mit.edu	37	17	41886367	41886367	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:41886367G>A	uc002ieh.3	-	16	1874	c.1613C>T	c.(1612-1614)aCg>aTg	p.T538M	MPP3_uc002iei.4_Missense_Mutation_p.T513M|MPP3_uc002iej.3_Non-coding_Transcript	NM_001932	NP_001923	Q13368	MPP3_HUMAN	Homo sapiens membrane protein, palmitoylated 3 (MAGUK p55 subfamily member 3) (MPP3), transcript variant 1, mRNA.	513	Guanylate kinase-like.				signal transduction	cell surface|integral to plasma membrane	guanylate kinase activity			endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Breast(137;0.00394)		BRCA - Breast invasive adenocarcinoma(366;0.119)		CATAGGTGGCGTTTTTCTTTT	0.408000														65			32		0	0	1	0	0
ZNF335	63925	broad.mit.edu	37	20	44581339	44581339	+	Silent	SNP	G	A	A	rs143040607		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:44581339G>A	uc002xqw.3	-	18	2835	c.2712C>T	c.(2710-2712)ccC>ccT	p.P904P	ZNF335_uc002xqv.3_Silent_p.P16P|ZNF335_uc010zxk.2_Silent_p.P749P	NM_022095	NP_071378	Q9H4Z2	ZN335_HUMAN	Homo sapiens zinc finger protein 335 (ZNF335), mRNA.	904					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				CCTCTCCTGCGGGCTCCTCGC	0.572000														34			26		0	0	1	0	0
NPHP3	27031	broad.mit.edu	37	3	132408040	132408040	+	Nonsense_Mutation	SNP	C	A	A	rs150941925		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:132408040C>A	uc003epe.2	-	19	2865	c.2761G>T	c.(2761-2763)Gaa>Taa	p.E921*	NPHP3_uc003epd.2_Nonsense_Mutation_p.E163*	NM_153240	NP_694972	Q7Z494	NPHP3_HUMAN	Homo sapiens nephronophthisis 3 (adolescent) (NPHP3), mRNA.	921					Wnt receptor signaling pathway|maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway	cilium	protein binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TCGAAGTATTCTGTTGCCATT	0.398000														95			10		0.0809354	0.0822074	1	1	0
SMEK1	55671	broad.mit.edu	37	14	91947962	91947962	+	Silent	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:91947962A>C	uc001xzn.3	-	3	1695	c.873T>G	c.(871-873)tcT>tcG	p.S291S	SMEK1_uc001xzm.3_Silent_p.S291S|SMEK1_uc001xzo.3_Silent_p.S291S|SMEK1_uc010atz.3_Intron|SMEK1_uc001xzp.1_Non-coding_Transcript|SMEK1_uc001xzq.1_Silent_p.S167S	NM_032560	NP_115949	Q6IN85	P4R3A_HUMAN	Homo sapiens SMEK homolog 1, suppressor of mek1 (Dictyostelium) (SMEK1), mRNA.	291						microtubule organizing center|nucleus	protein binding			NS(1)|endometrium(1)|kidney(1)|liver(1)|lung(1)|stomach(1)	6		all_cancers(154;0.0691)|all_epithelial(191;0.219)		COAD - Colon adenocarcinoma(157;0.221)		AAAAGATAAAAGAGTGAAGTG	0.338000														20			11		0	0	1	0	0
ZNF622	90441	broad.mit.edu	37	5	16465590	16465590	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:16465590C>A	uc003jfq.3	-	0	305	c.185G>T	c.(184-186)aGc>aTc	p.S62I		NM_033414	NP_219482	Q969S3	ZN622_HUMAN	Homo sapiens zinc finger protein 622 (ZNF622), mRNA.	62						cytoplasm|nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						CGAGCCCTTGCTCTCCTCCTC	0.652000														63			6		0.0293803	0.0299714	1	1	0
ZC3H10	84872	broad.mit.edu	37	12	56515435	56515435	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56515435G>A	uc001sjp.1	+	2	1278	c.1089G>A	c.(1087-1089)acG>acA	p.T363T	ZC3H10_uc021qyw.1_Silent_p.T363T	NM_032786	NP_116175	Q96K80	ZC3HA_HUMAN	Homo sapiens zinc finger CCCH-type containing 10 (ZC3H10), mRNA.	363	Pro-rich.						nucleic acid binding|zinc ion binding			breast(1)|endometrium(4)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	11			OV - Ovarian serous cystadenocarcinoma(18;0.12)			CAGAGATCACGCCACTGTCAG	0.627000														20			11		0	0	1	0	0
PLIN2	123	broad.mit.edu	37	9	19123610	19123610	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:19123610C>A	uc003zno.3	-	3	472	c.262G>T	c.(262-264)Gac>Tac	p.D88Y	PLIN2_uc011lna.2_Missense_Mutation_p.D60Y|PLIN2_uc011lnb.2_Missense_Mutation_p.D88Y	NM_001122	NP_001113	Q99541	PLIN2_HUMAN	Homo sapiens perilipin 2 (PLIN2), transcript variant 1, mRNA.	88					cellular lipid metabolic process	endoplasmic reticulum|extracellular region|lipid particle				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	19						TCAATCCTGTCTAGCCCCTTA	0.413000														29			17		3.62473e-10	4.36059e-10	1	1	0
CAMK1G	57172	broad.mit.edu	37	1	209781261	209781261	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:209781261C>T	uc001hhd.3	+	6	720	c.618C>T	c.(616-618)ggC>ggT	p.G206G	CAMK1G_uc001hhf.4_Silent_p.G206G|CAMK1G_uc001hhe.3_Silent_p.G206G	NM_020439	NP_065172	Q96NX5	KCC1G_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase IG (CAMK1G), mRNA.	206	Protein kinase.					Golgi membrane|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|central_nervous_system(1)|large_intestine(8)|lung(8)|stomach(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.0475)		GGTCCATCGGCGTCATCACCT	0.582000														44			28		0	0	1	0	0
AHRR	57491	broad.mit.edu	37	5	434145	434145	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:434145C>T	uc003jav.3	+	11	1399	c.1356C>T	c.(1354-1356)ccC>ccT	p.P452P	AHRR_uc003jaw.3_Silent_p.P434P|AHRR_uc010isy.3_Silent_p.P280P|AHRR_uc010isz.3_Silent_p.P430P|AHRR_uc003jax.3_Silent_p.P193P|AHRR_uc003jay.3_Silent_p.P290P|AHRR_uc003jaz.3_Silent_p.P51P	NM_020731	NP_065782	A9YTQ3	AHRR_HUMAN	Homo sapiens aryl-hydrocarbon receptor repressor (AHRR), transcript variant 1, mRNA.	434					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			GCCCCATGCCCCGCGGCTCCT	0.692000														12			8		0	0	1	0	0
SLC25A16	8034	broad.mit.edu	37	10	70248235	70248235	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:70248235C>T	uc001joi.3	-	6	910	c.762G>A	c.(760-762)gcG>gcA	p.A254A	SLC25A16_uc010qiy.2_Silent_p.A156A|SLC25A16_uc001joj.3_Silent_p.A156A	NM_152707	NP_689920	P16260	GDC_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier; Graves disease autoantigen), member 16 (SLC25A16), nuclear gene encoding mitochondrial protein, mRNA.	254					coenzyme biosynthetic process|pantothenate metabolic process	integral to membrane|mitochondrial inner membrane	binding|solute:solute antiporter activity			endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	7						ATATTGTCTGCGCTATTGCTC	0.343000														18			8		0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113212497	113212497	+	Silent	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:113212497T>G	uc010mtz.3	-	23	4282	c.3945A>C	c.(3943-3945)ccA>ccC	p.P1315P	SVEP1_uc010mua.1_Silent_p.P1315P	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	1315	EGF-like 4; calcium-binding (Potential).				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TATTTAAGCATGGGTTTGACT	0.468000														54			40		0	0	1	0	0
ITGB6	3694	broad.mit.edu	37	2	160994116	160994116	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:160994116G>T	uc002ubh.2	-	9	1504	c.1489C>A	c.(1489-1491)Ctg>Atg	p.L497M	ITGB6_uc010fou.2_Missense_Mutation_p.L497M|ITGB6_uc010zcq.1_Missense_Mutation_p.L455M|ITGB6_uc010fov.1_Missense_Mutation_p.L497M	NM_000888	NP_000879	P18564	ITB6_HUMAN	Homo sapiens integrin, beta 6 (ITGB6), mRNA.	497	Cysteine-rich tandem repeats.				cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						TCTGTGCTCAGCATGTCCTCG	0.607000														44			6		3.59834e-05	3.95114e-05	1	1	0
ARHGEF37	389337	broad.mit.edu	37	5	149011551	149011551	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:149011551G>T	uc003lra.1	+	12	1889	c.1825G>T	c.(1825-1827)Gcc>Tcc	p.A609S		NM_001001669	NP_001001669	A1IGU5	ARH37_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 37 (ARHGEF37), mRNA.	609	SH3 2.				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3)	17						TCAGGTCATAGCCGCGTACCC	0.562000														21			14		0.00316338	0.0033099	1	1	0
DSCAML1	57453	broad.mit.edu	37	11	117329587	117329587	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:117329587G>A	uc001prh.1	-	18	3633	c.3631C>T	c.(3631-3633)Cgg>Tgg	p.R1211W		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Homo sapiens Down syndrome cell adhesion molecule like 1 (DSCAML1), mRNA.	1151	Fibronectin type-III 4.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		AGCTCCACCCGCTCCCGCGTG	0.637000														44			19		0	0	1	0	0
SMG5	23381	broad.mit.edu	37	1	156228930	156228930	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:156228930G>A	uc001foc.4	-	15	2457	c.2308C>T	c.(2308-2310)Cgc>Tgc	p.R770C		NM_015327	NP_056142	Q9UPR3	SMG5_HUMAN	Homo sapiens smg-5 homolog, nonsense mediated mRNA decay factor (C. elegans) (SMG5), mRNA.	770					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding			NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48	Hepatocellular(266;0.158)					CCAAAGCTGCGGATGCAGCAG	0.612000														22			19		0	0	1	0	0
CAPN5	726	broad.mit.edu	37	11	76823762	76823762	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:76823762C>T	uc009yup.3	+	4	730	c.545C>T	c.(544-546)aCa>aTa	p.T182I	CAPN5_uc001oxx.3_Missense_Mutation_p.T142I|CAPN5_uc009yuq.3_Missense_Mutation_p.T178I|CAPN5_uc001oxy.3_Missense_Mutation_p.T182I	NM_004055	NP_004046	O15484	CAN5_HUMAN	Homo sapiens calpain 5 (CAPN5), mRNA.	142	Calpain catalytic.				proteolysis|signal transduction	intracellular	calcium-dependent cysteine-type endopeptidase activity			NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1)	30						CGGCTGCCCACAGTCAACAAC	0.597000														36			6		0	0	1	0	0
ZNF462	58499	broad.mit.edu	37	9	109690567	109690567	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:109690567A>G	uc004bcz.3	+	2	4663	c.4374A>G	c.(4372-4374)ctA>ctG	p.L1458L	MIR548Q_uc022bli.1_Intron|ZNF462_uc010mto.3_Silent_p.L1306L|ZNF462_uc004bda.3_Silent_p.L1306L	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN	Homo sapiens zinc finger protein 462 (ZNF462), mRNA.	1458					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Q1457Q(1)		NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						GCCTGCAGCTAGCTTCAGCCA	0.522000														15			4		0	0	1	0	0
TRPM6	140803	broad.mit.edu	37	9	77365589	77365589	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:77365589C>A	uc004ajl.1	-	29	5286	c.5048G>T	c.(5047-5049)aGg>aTg	p.R1683M	TRPM6_uc004ajk.1_Missense_Mutation_p.R1678M|TRPM6_uc022bib.1_Missense_Mutation_p.R1678M|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Missense_Mutation_p.R634M|TRPM6_uc010mpd.1_Missense_Mutation_p.R516M|TRPM6_uc010mpe.1_Intron|TRPM6_uc004ajj.1_Missense_Mutation_p.R639M	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 6 (TRPM6), transcript variant a, mRNA.	1683					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						CAGGGAGTTCCTATTGAGGTT	0.418000														50			31		3.90053e-15	4.9077e-15	1	1	0
IQSEC2	23096	broad.mit.edu	37	X	53277913	53277913	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:53277913C>A	uc004dsd.3	-	5	2650	c.2449G>T	c.(2449-2451)Gac>Tac	p.D817Y	IQSEC2_uc004dsc.3_Missense_Mutation_p.D612Y	NM_001111125	NP_001104595	Q5JU85	IQEC2_HUMAN	Homo sapiens IQ motif and Sec7 domain 2 (IQSEC2), transcript variant 1, mRNA.	807	SEC7.				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1)	29						TCCAACACGTCTCTGTTGAAC	0.602000														58			5		0.0215528	0.0220531	1	1	0
SNX32	254122	broad.mit.edu	37	11	65620382	65620382	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:65620382C>T	uc001ofr.3	+	11	1238	c.1111C>T	c.(1111-1113)Cga>Tga	p.R371*		NM_152760	NP_689973	Q86XE0	SNX32_HUMAN	Homo sapiens sorting nexin 32 (SNX32), mRNA.	371					cell communication|protein transport		phosphatidylinositol binding			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				READ - Rectum adenocarcinoma(159;0.171)		CTCCTCTTTTCGAAAGAATCT	0.627000														50			43		0	0	1	0	0
EEF2K	29904	broad.mit.edu	37	16	22269826	22269826	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:22269826G>T	uc002dki.3	+	9	1526	c.1041G>T	c.(1039-1041)aaG>aaT	p.K347N	EEF2K_uc002dkh.3_Non-coding_Transcript	NM_013302	NP_037434	O00418	EF2K_HUMAN	Homo sapiens eukaryotic elongation factor-2 kinase (EEF2K), mRNA.	347					insulin receptor signaling pathway|translational elongation	cytosol	ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding			breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(48;0.0223)		AATCAGCCAAGACCATCTTGA	0.532000														71			6		0.217242	0.21859	1	1	0
TMCC1	23023	broad.mit.edu	37	3	129389445	129389445	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:129389445A>G	uc021xdy.1	-	3	1673	c.1239T>C	c.(1237-1239)tcT>tcC	p.S413S	TMCC1_uc003emy.4_Silent_p.S89S|TMCC1_uc011blc.2_Silent_p.S234S|TMCC1_uc010htg.3_Silent_p.S299S	NM_001017395	NP_001121696	O94876	TMCC1_HUMAN	Homo sapiens transmembrane and coiled-coil domain family 1 (TMCC1), transcript variant 1, mRNA.	413						integral to membrane			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						ATTTTGGGCTAGACTGAAAGT	0.512000														64			8		0	0	1	0	0
TRPM1	4308	broad.mit.edu	37	15	31295069	31295069	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:31295069C>T	uc021sia.1	-	26	4199	c.3885G>A	c.(3883-3885)acG>acA	p.T1295T	TRPM1_uc010azy.3_Silent_p.T1163T|TRPM1_uc001zfl.3_Non-coding_Transcript|TRPM1_uc021shz.1_Silent_p.T1278T|TRPM1_uc001zfm.3_Silent_p.T1256T	NM_001252020	NP_001238949	Q7Z4N2	TRPM1_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 1 (TRPM1), transcript variant 1, mRNA.	1256					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		GGAGAAGATACGTTGCCTCAC	0.453000														46			26		0	0	1	0	0
EML2	24139	broad.mit.edu	37	19	46142120	46142120	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:46142120T>G	uc010xxm.2	-	4	708	c.635A>C	c.(634-636)gAa>gCa	p.E212A	EML2_uc002pcn.3_Missense_Mutation_p.E11A|EML2_uc002pcp.3_5'UTR|EML2_uc002pco.3_Non-coding_Transcript|EML2_uc010xxl.2_Missense_Mutation_p.E158A|EML2_uc010xxn.1_Non-coding_Transcript|EML2_uc010xxo.2_Missense_Mutation_p.E11A|EML2_uc010ekj.3_Missense_Mutation_p.E11A|LOC100287177_uc002pcs.3_5'Flank	NM_001193268	NP_001180197	O95834	EMAL2_HUMAN	Homo sapiens echinoderm microtubule associated protein like 2 (EML2), transcript variant 1, mRNA.	11					sensory perception of sound|visual perception	cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex	catalytic activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)		GAAGATAACTTCTTTGGTTTT	0.522000														42			26		0	0	1	0	0
SSX5	6758	broad.mit.edu	37	X	48054794	48054794	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:48054794T>C	uc004diz.1	-	1	54	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	SSX5_uc004dja.1_Missense_Mutation_p.M1V	NM_021015	NP_066295	O60225	SSX5_HUMAN	Homo sapiens synovial sarcoma, X breakpoint 5 (SSX5), transcript variant 1, mRNA.	1					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|skin(1)	18						TCTCCGTTCATGGCACCGGGA	0.532000														122			15		0	0	1	0	0
MATN4	8785	broad.mit.edu	37	20	43926866	43926866	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:43926866G>A	uc002xnn.2	-	6	1557	c.1370C>T	c.(1369-1371)aCg>aTg	p.T457M	MATN4_uc002xnp.2_Missense_Mutation_p.T375M|MATN4_uc002xno.2_Missense_Mutation_p.T416M|MATN4_uc010zwr.1_Missense_Mutation_p.T405M|MATN4_uc002xnr.1_Missense_Mutation_p.T457M	NM_003833	NP_003824	O95460	MATN4_HUMAN	Homo sapiens matrilin 4 (MATN4), transcript variant 1, mRNA.	498	VWFA 2.					extracellular region	protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				GCGGCCATCCGTGAAGACCAG	0.667000														28			18		0	0	1	0	0
ZNF767	79970	broad.mit.edu	37	7	149317059	149317059	+	RNA	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:149317059C>T	uc003wfy.3	-	3		c.746G>A			ZNF767_uc003wfx.2_Non-coding_Transcript|ZNF767_uc011kuq.1_Non-coding_Transcript					Homo sapiens zinc finger family member 767 (ZNF767), transcript variant 2, non-coding RNA.											central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)	5	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00434)			GGGGTCAGGGCGGCGCCAGTT	0.547000														34			7		0	0	1	0	0
GRM5	2915	broad.mit.edu	37	11	88338068	88338068	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:88338068G>T	uc001pcq.3	-	3	1412	c.1212C>A	c.(1210-1212)atC>atA	p.I404I	GRM5_uc009yvm.3_Silent_p.I404I	NM_001143831	NP_001137303	P41594	GRM5_HUMAN	Homo sapiens glutamate receptor, metabotropic 5 (GRM5), transcript variant a, mRNA.	404					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	CCATCGAATAGATGGCGTTGA	0.458000														59			8		0.00307968	0.00322291	1	1	0
OR5H15	403274	broad.mit.edu	37	3	97888395	97888395	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:97888395G>A	uc011bgu.2	+	0	852	c.852G>A	c.(850-852)ttG>ttA	p.L284L		NM_001005515	NP_001005515	A6NDH6	O5H15_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 15 (OR5H15), mRNA.	284					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P283P(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						TCATTCCTTTGTTAAATCCTA	0.363000														61			9		0	0	1	0	0
SLC16A9	220963	broad.mit.edu	37	10	61414270	61414270	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:61414270G>T	uc010qig.1	-	4	963	c.514C>A	c.(514-516)Ctg>Atg	p.L172M		NM_194298	NP_919274	Q7RTY1	MOT9_HUMAN	Homo sapiens solute carrier family 16, member 9 (monocarboxylic acid transporter 9) (SLC16A9), mRNA.	172					urate metabolic process	integral to membrane|plasma membrane	symporter activity			kidney(3)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	23						CCCACAATCAGCAAGCATCCA	0.438000														76			35		2.32173e-10	2.80169e-10	1	1	0
DPYSL4	10570	broad.mit.edu	37	10	134013930	134013930	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:134013930C>T	uc009ybb.3	+	8	1036	c.882C>T	c.(880-882)aaC>aaT	p.N294N		NM_006426	NP_006417	O14531	DPYL4_HUMAN	Homo sapiens dihydropyrimidinase-like 4 (DPYSL4), mRNA.	294					axon guidance|pyrimidine base catabolic process	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)		GGAGCAAGAACTGGGCCAAGG	0.652000														36			27		0	0	1	0	0
GCC2	9648	broad.mit.edu	37	2	109103047	109103047	+	Silent	SNP	G	A	A	rs149849446		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:109103047G>A	uc002tec.3	+	15	4027	c.3873G>A	c.(3871-3873)acG>acA	p.T1291T	GCC2_uc002ted.3_Silent_p.T1190T	NM_181453	NP_852118	Q8IWJ2	GCC2_HUMAN	Homo sapiens GRIP and coiled-coil domain containing 2 (GCC2), transcript variant 1, mRNA.	1291					Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						ACCAGCGTACGCTAAGTGCAT	0.502000														37			26		0	0	1	0	0
EPHA7	2045	broad.mit.edu	37	6	93953252	93953252	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:93953252C>T	uc003poe.3	-	16	3130	c.2889G>A	c.(2887-2889)gtG>gtA	p.V963V	EPHA7_uc003pof.3_Silent_p.V958V|EPHA7_uc011eac.2_Silent_p.V959V	NM_004440	NP_004431	Q15375	EPHA7_HUMAN	Homo sapiens EPH receptor A7 (EPHA7), mRNA.	963	SAM.					integral to plasma membrane	ATP binding|ephrin receptor activity	p.V963V(2)		NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		CTAAACTCATCACATCCCTGA	0.353000														56			33		0	0	1	0	0
PALM2-AKAP2	445815	broad.mit.edu	37	9	112899207	112899207	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:112899207C>T	uc004bei.2	+	8	2271	c.2079C>T	c.(2077-2079)gcC>gcT	p.A693A	PALM2-AKAP2_uc004bej.4_Silent_p.A461A|PALM2-AKAP2_uc004bek.4_Silent_p.A461A|PALM2-AKAP2_uc004bel.1_Silent_p.A271A|PALM2-AKAP2_uc011lwi.2_Silent_p.A319A|PALM2-AKAP2_uc004bem.3_Silent_p.A319A|PALM2-AKAP2_uc010mtw.1_Silent_p.A279A|PALM2-AKAP2_uc011lwj.2_Silent_p.A230A|PALM2-AKAP2_uc004ben.3_Silent_p.A230A	NM_001136562	NP_001130034	Q9Y2D5	AKAP2_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 2 (AKAP2), transcript variant 2, mRNA.	230							enzyme binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						GCAGCCAGGCCGTCAAGAAGA	0.512000														32			12		0	0	1	0	0
GRIN2D	2906	broad.mit.edu	37	19	48918275	48918275	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:48918275G>A	uc002pjc.4	+	5	1655	c.1567G>A	c.(1567-1569)Ggc>Agc	p.G523S		NM_000836	NP_000827	O15399	NMDE4_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2D (GRIN2D), mRNA.	523						cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)	CGTCTGGAACGGCATGATCGG	0.637000														28			18		0	0	1	0	0
PDZRN4	29951	broad.mit.edu	37	12	41966991	41966991	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:41966991G>A	uc010skn.2	+	9	2418	c.2410G>A	c.(2410-2412)Gct>Act	p.A804T	PDZRN4_uc001rmq.4_Missense_Mutation_p.A546T|PDZRN4_uc009zjz.3_Missense_Mutation_p.A544T|PDZRN4_uc001rmr.3_Missense_Mutation_p.A431T	NM_001164595	NP_001158067	Q6ZMN7	PZRN4_HUMAN	Homo sapiens PDZ domain containing ring finger 4 (PDZRN4), transcript variant 1, mRNA.	804							ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				AGGTTGTAGCGCTGAAAGCAA	0.517000														103			63		0	0	1	0	0
ATP13A5	344905	broad.mit.edu	37	3	193081988	193081988	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:193081988G>A	uc011bsq.2	-	1	145	c.145C>T	c.(145-147)Ctg>Ttg	p.L49L		NM_198505	NP_940907	Q4VNC0	AT135_HUMAN	Homo sapiens ATPase type 13A5 (ATP13A5), mRNA.	49					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		TAGAACACCAGCAGAAGGCCC	0.537000														124			64		0	0	1	0	0
RALGAPA2	57186	broad.mit.edu	37	20	20501713	20501713	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:20501713G>A	uc002wrz.3	-	30	4075	c.3932C>T	c.(3931-3933)aCg>aTg	p.T1311M	RALGAPA2_uc002wry.3_Missense_Mutation_p.T926M|RALGAPA2_uc010zsg.2_Missense_Mutation_p.T759M|RALGAPA2_uc002wsa.1_Missense_Mutation_p.T83M	NM_020343	NP_065076	Q2PPJ7	RGPA2_HUMAN	Homo sapiens Ral GTPase activating protein, alpha subunit 2 (catalytic) (RALGAPA2), mRNA.	1311					activation of Ral GTPase activity	cytosol|nucleus	Ral GTPase activator activity|protein heterodimerization activity			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						TTGGGTGTACGTGCTTGAGCC	0.527000														61			40		0	0	1	0	0
TSIX	9383	broad.mit.edu	37	X	73042966	73042966	+	RNA	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:73042966T>C	uc004ebn.2	+	0		c.30927T>C			XIST_uc004ebm.1_Non-coding_Transcript					Homo sapiens TSIX transcript, XIST antisense RNA (non-protein coding) (TSIX), antisense RNA.																		AGTTGTTACATCTTGAACCAT	0.323000														36			4		0	0	1	0	0
MAGEB4	4115	broad.mit.edu	37	X	30261290	30261290	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:30261290G>A	uc004dcb.3	+	0	1234	c.1038G>A	c.(1036-1038)atG>atA	p.M346I	MAGEB1_uc004dcc.3_5'Flank|MAGEB1_uc004dcd.3_5'Flank	NM_002367	NP_002358	O15481	MAGB4_HUMAN	Homo sapiens melanoma antigen family B, 4 (MAGEB4), mRNA.	346										breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27						CCCAACCCATGTGAGATCTAA	0.488000														18			8		0	0	1	0	0
UBASH3A	53347	broad.mit.edu	37	21	43829594	43829594	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:43829594C>A	uc002zbe.3	+	2	315	c.231C>A	c.(229-231)ttC>ttA	p.F77L	UBASH3A_uc002zbf.3_Missense_Mutation_p.F77L|UBASH3A_uc010gpe.3_Missense_Mutation_p.F77L|UBASH3A_uc010gpc.3_Non-coding_Transcript|UBASH3A_uc010gpd.3_Non-coding_Transcript	NM_018961	NP_061834	P57075	UBS3A_HUMAN	Homo sapiens ubiquitin associated and SH3 domain containing A (UBASH3A), transcript variant 1, mRNA.	77						cytosol|nucleus				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						ATGCCCTTTTCCTCTGTCCAA	0.557000														79			6		0.217242	0.21859	1	1	0
LAMA5	3911	broad.mit.edu	37	20	60903418	60903418	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:60903418G>T	uc002ycq.3	-	34	4598	c.4531C>A	c.(4531-4533)Ctg>Atg	p.L1511M	LAMA5_uc021wfw.1_Missense_Mutation_p.L1511M	NM_005560	NP_005551	O15230	LAMA5_HUMAN	Homo sapiens laminin, alpha 5 (LAMA5), mRNA.	1511	Laminin EGF-like 13.				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)	GGCTGGCACAGCAGGCAGTCG	0.677000														4			3		0.000602214	0.000641151	1	1	0
TIMP3	7078	broad.mit.edu	37	22	33255339	33255339	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:33255339G>A	uc003anb.3	+	4	1797	c.611G>A	c.(610-612)aGc>aAc	p.S204N	SYN3_uc003amx.3_Intron|SYN3_uc003amy.3_Intron|SYN3_uc003amz.3_Intron	NM_000362	NP_000353	P35625	TIMP3_HUMAN	Homo sapiens TIMP metallopeptidase inhibitor 3 (TIMP3), mRNA.	204			S -> C (in SFD).		negative regulation of membrane protein ectodomain proteolysis|visual perception		metal ion binding|metalloendopeptidase inhibitor activity|protein binding			endometrium(2)|large_intestine(3)|lung(1)|urinary_tract(1)	7						CCGGATAAAAGCATCATCAAT	0.592000														9			6		0	0	1	0	0
VPS13B	157680	broad.mit.edu	37	8	100830943	100830943	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:100830943T>C	uc003yiv.3	+	46	8634	c.8523T>C	c.(8521-8523)atT>atC	p.I2841I	VPS13B_uc003yiw.3_Silent_p.I2816I	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA.	2841					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TTTTATAGATTGTGTTCAGCC	0.353000														186			17		0	0	1	0	0
XPC	7508	broad.mit.edu	37	3	14208719	14208719	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:14208719G>A	uc011ave.2	-	4	675	c.571C>T	c.(571-573)Cgg>Tgg	p.R191W	XPC_uc011avf.2_5'UTR|XPC_uc011avg.2_Missense_Mutation_p.R154W	NM_004628	NP_004619	Q01831	XPC_HUMAN	Homo sapiens xeroderma pigmentosum, complementation group C (XPC), transcript variant 1, mRNA.	191					nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal	XPC complex|cytoplasm|nucleoplasm	bubble DNA binding|damaged DNA binding|loop DNA binding|protein binding|single-stranded DNA binding			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						ATCGCCCTCCGAAGATATGTC	0.468000			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum					10			10		0	0	1	0	0
DPP9	91039	broad.mit.edu	37	19	4697661	4697661	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:4697661G>A	uc002mba.3	-	10	1335	c.1077C>T	c.(1075-1077)atC>atT	p.I359I		NM_139159	NP_631898	Q86TI2	DPP9_HUMAN	Homo sapiens dipeptidyl-peptidase 9 (DPP9), mRNA.	330					proteolysis	cytosol|membrane	aminopeptidase activity|serine-type peptidase activity			cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)		GGGTCGAGACGATCTGAAGGG	0.632000														16			8		0	0	1	0	0
HPCA	3208	broad.mit.edu	37	1	33354871	33354871	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:33354871C>T	uc001bwh.3	+	1	412	c.372C>T	c.(370-372)atC>atT	p.I124I		NM_002143	NP_002134	P84074	HPCA_HUMAN	Homo sapiens hippocalcin (HPCA), mRNA.	124	EF-hand 3.						actin binding|calcium ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	9		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				TGCTGGAGATCGTGCAGGTGG	0.642000														25			9		0	0	1	0	0
CSPG4	1464	broad.mit.edu	37	15	75982697	75982697	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:75982697C>T	uc002baw.3	-	2	802	c.709G>A	c.(709-711)Gca>Aca	p.A237T		NM_001897	NP_001888	Q6UVK1	CSPG4_HUMAN	Homo sapiens chondroitin sulfate proteoglycan 4 (CSPG4), mRNA.	237	Globular or compact configuration stabilized by disulfide bonds.|Laminin G-like 2.|Neurite growth inhibition (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						GCCAAGGGTGCCTGCCGGCTC	0.642000														27			10		0	0	1	0	0
KRTAP9-8	83901	broad.mit.edu	37	17	39394564	39394564	+	Silent	SNP	G	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:39394564G>C	uc002hwh.4	+	0	295	c.261G>C	c.(259-261)ggG>ggC	p.G87G		NM_031963	NP_114169	Q9BYQ0	KRA98_HUMAN	Homo sapiens keratin associated protein 9-8 (KRTAP9-8), mRNA.	87	15 X 5 AA repeats of C-C-[RQVSGE]- [SPSNQ]-[TASPI].					keratin filament				lung(8)|ovary(1)|prostate(1)	10		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			CCAGCTGTGGGTCCAGCTGTG	0.612000														53			4		0	0	1	0	0
GANC	2595	broad.mit.edu	37	15	42630635	42630635	+	Missense_Mutation	SNP	T	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:42630635T>A	uc001zpi.3	+	15	2104	c.1790T>A	c.(1789-1791)aTt>aAt	p.I597N		NM_198141	NP_937784	Q8TET4	GANC_HUMAN	Homo sapiens glucosidase, alpha; neutral C (GANC), mRNA.	597					carbohydrate metabolic process		carbohydrate binding|maltose alpha-glucosidase activity			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)		GBM - Glioblastoma multiforme(94;1.06e-06)		AACTTGAAAATTTCTATCCCA	0.423000														31			22		0	0	1	0	0
TTYH2	94015	broad.mit.edu	37	17	72249233	72249233	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:72249233G>A	uc002jkc.3	+	11	1304	c.1273G>A	c.(1273-1275)Gat>Aat	p.D425N	TTYH2_uc010wqw.2_Missense_Mutation_p.D404N|TTYH2_uc002jkd.3_Missense_Mutation_p.D104N	NM_032646	NP_116035	Q9BSA4	TTYH2_HUMAN	Homo sapiens tweety homolog 2 (Drosophila) (TTYH2), transcript variant 1, mRNA.	425	Poly-Asp.					chloride channel complex|plasma membrane	chloride channel activity|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(14)|ovary(3)|pancreas(1)|stomach(3)|upper_aerodigestive_tract(1)	36						CAGAGACTACGATGACATTGA	0.572000														80			46		0	0	1	0	0
ABCB5	340273	broad.mit.edu	37	7	20689654	20689654	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:20689654G>T	uc010kuh.3	+	11	1453	c.1216G>T	c.(1216-1218)Ggt>Tgt	p.G406C	ABCB5_uc003suw.4_5'UTR|ABCB5_uc003suv.4_5'UTR|ABCB5_uc011jyi.1_5'UTR	NM_001163941	NP_848654	Q2M3G0	ABCB5_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 5 (ABCB5), transcript variant 1, mRNA.	590	ABC transmembrane type-1.				regulation of membrane potential	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						GATTCTGAAAGGTCTGAATCT	0.393000														22			9		0.000274275	0.000294507	1	1	0
WNT11	7481	broad.mit.edu	37	11	75898153	75898153	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:75898153A>G	uc001oxe.3	-	4	1144	c.1021T>C	c.(1021-1023)Tgc>Cgc	p.C341R		NM_004626	NP_004617	O96014	WNT11_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 11 (WNT11), mRNA.	341					Wnt receptor signaling pathway, calcium modulating pathway|adrenal gland development|anterior/posterior pattern formation|artery morphogenesis|axis specification|bone mineralization|cellular response to retinoic acid|cloacal septation|embryonic skeletal system development|endoderm development|lung-associated mesenchyme development|mesonephric duct development|negative regulation of apoptosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell migration|negative regulation of transcription, DNA-dependent|neuroendocrine cell differentiation|neuron differentiation|osteoblast differentiation|outflow tract morphogenesis|palate development|positive regulation of cell migration|positive regulation of protein kinase C signaling cascade|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor-beta2 production|protein localization at cell surface|protein phosphorylation|tight junction assembly|ureteric bud morphogenesis|ventricular septum morphogenesis	cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|Ras GTPase activator activity|protein kinase activator activity|transcription regulatory region DNA binding			breast(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20						CACCTGCGGCAGGTGACGTAG	0.637000														34			19		0	0	1	0	0
PRPSAP1	5635	broad.mit.edu	37	17	74344663	74344663	+	Splice_Site	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:74344663C>A	uc010wtb.1	-	2	83	c.-138_splice	c.e2-1		PRPSAP1_uc010wta.1_Splice_Site_p.E57_splice	NM_002766	NP_002757	Q14558	KPRA_HUMAN	Homo sapiens phosphoribosyl pyrophosphate synthetase-associated protein 1 (PRPSAP1), mRNA.						nucleotide biosynthetic process		enzyme inhibitor activity|identical protein binding|magnesium ion binding|ribose phosphate diphosphokinase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	17						ACCAAGGCGCCTATAGATCAA	0.259000														10			3		0.0215528	0.0220531	1	1	0
C1QB	713	broad.mit.edu	37	1	22987483	22987483	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:22987483C>T	uc001bgd.3	+	2	498	c.366C>T	c.(364-366)atC>atT	p.I122I		NM_000491	NP_000482	P02746	C1QB_HUMAN	Homo sapiens complement component 1, q subcomponent, B chain (C1QB), mRNA.	122	C1q.				complement activation, classical pathway|innate immune response	collagen|complement component C1 complex				breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CCCAGAAAATCGCCTTCTCTG	0.617000														63			32		0	0	1	0	0
CLCN4	1183	broad.mit.edu	37	X	10176405	10176405	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:10176405C>A	uc004csy.4	+	8	1594	c.1164C>A	c.(1162-1164)ccC>ccA	p.P388P	CLCN4_uc011mid.2_Silent_p.P294P	NM_001830	NP_001821	P51793	CLCN4_HUMAN	Homo sapiens chloride channel 4 (CLCN4), mRNA.	388						early endosome membrane|integral to membrane|late endosome membrane	ATP binding|antiporter activity|voltage-gated chloride channel activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						ACCCCAATCCCTACACACGCC	0.567000														286			30		7.26314e-15	9.11658e-15	1	1	0
TSPYL2	64061	broad.mit.edu	37	X	53117082	53117082	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:53117082C>T	uc004drw.3	+	6	2182	c.2043C>T	c.(2041-2043)aaC>aaT	p.N681N	TSPYL2_uc004drv.3_3'UTR	NM_022117	NP_071400	Q9H2G4	TSYL2_HUMAN	Homo sapiens TSPY-like 2 (TSPYL2), mRNA.	681					cell cycle|chromatin modification|negative regulation of DNA replication|negative regulation of cell cycle|negative regulation of cell growth|nucleosome assembly|regulation of protein kinase activity|regulation of signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|rDNA binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	19						AGGTCCCAAACGGTTGGGCCA	0.532000											OREG0019795	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		48			15		0	0	1	0	0
ISLR2	57611	broad.mit.edu	37	15	74425273	74425273	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:74425273G>A	uc002axd.3	+	3	947	c.178G>A	c.(178-180)Gcg>Acg	p.A60T	ISLR2_uc002axe.3_Missense_Mutation_p.A60T|ISLR2_uc010bjg.3_Missense_Mutation_p.A60T|ISLR2_uc010bjf.3_Missense_Mutation_p.A60T|ISLR2_uc021sqe.1_Missense_Mutation_p.A60T	NM_001130136	NP_065902	Q6UXK2	ISLR2_HUMAN	Homo sapiens immunoglobulin superfamily containing leucine-rich repeat 2 (ISLR2), transcript variant 1, mRNA.	60					positive regulation of axon extension	cell surface|integral to membrane|plasma membrane				breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						TAGTCTGTCCGCGAACAAGAT	0.632000														64			7		0	0	1	0	0
UNC45A	55898	broad.mit.edu	37	15	91491397	91491397	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:91491397G>A	uc002bqg.3	+	11	1961	c.1621G>A	c.(1621-1623)Gca>Aca	p.A541T	UNC45A_uc002bqd.3_Missense_Mutation_p.A526T|UNC45A_uc010uqr.2_5'UTR|UNC45A_uc021suj.1_5'Flank	NM_018671	NP_061141	Q9H3U1	UN45A_HUMAN	Homo sapiens unc-45 homolog A (C. elegans) (UNC45A), transcript variant 2, mRNA.	541					cell differentiation|muscle organ development	nucleus|perinuclear region of cytoplasm	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			CCAGATCGACGCAGGCACTCG	0.602000														61			30		0	0	1	0	0
RMND5A	64795	broad.mit.edu	37	2	86979116	86979116	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:86979116G>A	uc002srr.2	+	2	760	c.383G>A	c.(382-384)cGa>cAa	p.R128Q	RMND5A_uc002srs.4_Intron	NM_022780	NP_073617	Q9H871	RMD5A_HUMAN	Homo sapiens required for meiotic nuclear division 5 homolog A (S. cerevisiae) (RMND5A), mRNA.	128	LisH.									kidney(1)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	17						CACTTCTTTCGACAAGGAATG	0.473000														17			21		0	0	1	0	0
ARIH2	10425	broad.mit.edu	37	3	49004629	49004629	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49004629T>C	uc003cvb.3	+	5	771	c.459T>C	c.(457-459)tcT>tcC	p.S153S	ARIH2_uc003cvc.3_Silent_p.S153S|ARIH2_uc003cvf.3_Silent_p.S71S|ARIH2_uc010hkl.3_Silent_p.S153S	NM_006321	NP_006312	O95376	ARI2_HUMAN	Homo sapiens ariadne homolog 2 (Drosophila) (ARIH2), mRNA.	153					developmental cell growth|hemopoietic stem cell proliferation|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(193;9.42e-05)|Kidney(197;0.00258)|KIRC - Kidney renal clear cell carcinoma(197;0.00269)		ACCTACTCTCTCTGGCCTGTC	0.557000														115			13		0	0	1	0	0
PLEKHM3	389072	broad.mit.edu	37	2	208866313	208866313	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:208866313C>A	uc002vcl.2	-	1	541	c.51G>T	c.(49-51)gaG>gaT	p.E17D	PLEKHM3_uc002vcm.2_Missense_Mutation_p.E17D	NM_001080475	NP_001073944	Q6ZWE6	PKHM3_HUMAN	Homo sapiens pleckstrin homology domain containing, family M, member 3 (PLEKHM3), mRNA.	17					intracellular signal transduction		metal ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TAAAGAATTCCTCCGTAACTT	0.498000														119			7		5.18039e-06	5.80246e-06	1	1	0
CCKBR	887	broad.mit.edu	37	11	6291971	6291971	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6291971G>A	uc001mcp.3	+	3	1004	c.749G>A	c.(748-750)cGc>cAc	p.R250H	CCKBR_uc001mcq.3_Missense_Mutation_p.R178H|CCKBR_uc001mcr.3_Missense_Mutation_p.R250H|CCKBR_uc001mcs.3_Missense_Mutation_p.R250H|CCKBR_uc001mct.1_5'Flank	NM_176875	NP_795344	P32239	GASR_HUMAN	Homo sapiens cholecystokinin B receptor (CCKBR), mRNA.	250					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding			NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	TTAGGGCTTCGCTTTGACGGC	0.602000														57			5		0	0	1	0	0
CD300E	342510	broad.mit.edu	37	17	72613389	72613389	+	Missense_Mutation	SNP	C	T	T	rs144682080	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:72613389C>T	uc002jlb.2	-	1	393	c.256G>A	c.(256-258)Gcc>Acc	p.A86T		NM_181449	NP_852114	Q496F6	CLM2_HUMAN	Homo sapiens CD300e molecule (CD300E), mRNA.	86	Ig-like V-type.					integral to membrane|plasma membrane	receptor activity			breast(1)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	19						ACAGTGAAGGCGAGAGCCTCC	0.532000														53			19		0	0	1	0	0
LRRC39	127495	broad.mit.edu	37	1	100633981	100633981	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:100633981C>T	uc001dsw.1	-	2	291	c.92G>A	c.(91-93)cGa>cAa	p.R31Q	LRRC39_uc001dsx.1_Missense_Mutation_p.R31Q|LRRC39_uc001dsy.1_Missense_Mutation_p.R31Q|LRRC39_uc001dsz.1_Missense_Mutation_p.R31Q	NM_144620	NP_653221	Q96DD0	LRC39_HUMAN	Homo sapiens leucine rich repeat containing 39 (LRRC39), transcript variant 3, mRNA.	31										endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	13		all_epithelial(167;0.000542)|all_lung(203;0.0154)|Lung NSC(277;0.0155)		Epithelial(280;0.0826)|all cancers(265;0.135)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)		TTCCTTCTCTCGCTTCAGGTC	0.323000														62			6		0	0	1	0	0
ATP6V0D2	245972	broad.mit.edu	37	8	87111268	87111268	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:87111268C>T	uc003ydp.1	+	0	130	c.61C>T	c.(61-63)Cga>Tga	p.R21*		NM_152565	NP_689778	Q8N8Y2	VA0D2_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2 (ATP6V0D2), mRNA.	21					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	apical plasma membrane|endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex	hydrogen ion transmembrane transporter activity|protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|prostate(1)	27						GGGCCTGGTTCGAGGATGCAA	0.532000														29			16		0	0	1	0	0
AMPD2	271	broad.mit.edu	37	1	110169414	110169414	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:110169414T>C	uc009wfh.1	+	6	1302	c.760T>C	c.(760-762)Tac>Cac	p.Y254H	AMPD2_uc009wfg.1_Non-coding_Transcript|AMPD2_uc001dyb.1_Missense_Mutation_p.Y173H|AMPD2_uc001dyc.1_Missense_Mutation_p.Y254H|AMPD2_uc010ovr.1_Missense_Mutation_p.Y179H|AMPD2_uc010ovs.1_Missense_Mutation_p.Y136H|AMPD2_uc001dyd.1_Missense_Mutation_p.Y135H|AMPD2_uc001dye.1_5'Flank	NM_004037	NP_004028	Q01433	AMPD2_HUMAN	Homo sapiens adenosine monophosphate deaminase 2 (AMPD2), transcript variant 1, mRNA.	254					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			breast(1)|large_intestine(3)|ovary(2)|skin(1)	7		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)		CCGGGAGAAGTACATGGCCCT	0.612000														74			22		0	0	1	0	0
SART1	9092	broad.mit.edu	37	11	65733943	65733943	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:65733943C>A	uc001ogl.3	+	8	1196	c.1104C>A	c.(1102-1104)atC>atA	p.I368I	SART1_uc010rot.1_Missense_Mutation_p.S254Y	NM_005146	NP_005137	O43290	SNUT1_HUMAN	Homo sapiens squamous cell carcinoma antigen recognized by T cells (SART1), mRNA.	368					cell cycle arrest|induction of apoptosis by intracellular signals|positive regulation of cytotoxic T cell differentiation|spliceosomal snRNP assembly	Cajal body|catalytic step 2 spliceosome|cytosol				endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						TGGAGGAGATCCGGGCCAAGC	0.672000														16			11		2.80697e-09	3.3309e-09	1	1	0
FYN	2534	broad.mit.edu	37	6	111983139	111983139	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:111983139G>A	uc003pvj.3	-	12	1757	c.1417C>T	c.(1417-1419)Cgg>Tgg	p.R473W	FYN_uc003pvi.3_Missense_Mutation_p.R418W|FYN_uc003pvk.3_Missense_Mutation_p.R473W|FYN_uc003pvh.3_Missense_Mutation_p.R470W	NM_002037	NP_002028	P06241	FYN_HUMAN	Homo sapiens FYN oncogene related to SRC, FGR, YES (FYN), transcript variant 1, mRNA.	473	Protein kinase.				T cell costimulation|T cell receptor signaling pathway|axon guidance|calcium ion transport|feeding behavior|interspecies interaction between organisms|intracellular protein kinase cascade|learning|leukocyte migration|platelet activation|regulation of defense response to virus by virus|viral reproduction	cytosol|endosome|plasma membrane	ATP binding|glycoprotein binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(17)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	30		all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211)		all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102)	Dasatinib(DB01254)	AGCACCTCCCGGTTGTTCATG	0.602000														71			10		0	0	1	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54917615	54917615	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:54917615C>T	uc001sgc.4	+	19	2110	c.2031C>T	c.(2029-2031)gaC>gaT	p.D677D	NCKAP1L_uc010sox.2_Silent_p.D219D|NCKAP1L_uc010soy.2_Silent_p.D627D	NM_005337	NP_005328	P55160	NCKPL_HUMAN	Homo sapiens NCK-associated protein 1-like (NCKAP1L), transcript variant 1, mRNA.	677					B cell homeostasis|B cell receptor signaling pathway|T cell homeostasis|actin polymerization-dependent cell motility|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of T cell proliferation|positive regulation of actin filament polymerization|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|protein complex assembly|response to drug	SCAR complex|cytosol|integral to plasma membrane|membrane fraction	Rac GTPase activator activity|protein complex binding|protein kinase activator activity	p.D677N(1)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						CTAGCATGGACAAGCTACACC	0.458000														64			6		0	0	1	0	0
LGR4	55366	broad.mit.edu	37	11	27389979	27389979	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:27389979G>A	uc001mrj.4	-	17	2776	c.2291C>T	c.(2290-2292)gCg>gTg	p.A764V	LGR4_uc001mrk.4_Missense_Mutation_p.A740V	NM_018490	NP_060960	Q9BXB1	LGR4_HUMAN	Homo sapiens leucine-rich repeat containing G protein-coupled receptor 4 (LGR4), mRNA.	764						integral to membrane|plasma membrane	protein-hormone receptor activity			NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						TGAAAAAAACGCCACAGGGCA	0.403000														67			59		0	0	1	0	0
PSD3	23362	broad.mit.edu	37	8	18430054	18430054	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:18430054G>A	uc003wza.3	-	13	2871	c.2768C>T	c.(2767-2769)aCa>aTa	p.T923I	PSD3_uc003wyx.4_Missense_Mutation_p.T252I|PSD3_uc003wyy.3_Missense_Mutation_p.T389I|PSD3_uc003wyz.3_Missense_Mutation_p.T224I	NM_015310	NP_056125	Q9NYI0	PSD3_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 3 (PSD3), transcript variant 1, mRNA.	924					regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		CAGTTTTGTTGTAGTGGCAGG	0.403000														58			39		0	0	1	0	0
TRAF3	7187	broad.mit.edu	37	14	103336624	103336624	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:103336624C>T	uc001ymc.2	+	2	439	c.86C>T	c.(85-87)aCg>aTg	p.T29M	TRAF3_uc001ymd.2_Missense_Mutation_p.T29M|TRAF3_uc001yme.2_Missense_Mutation_p.T29M|TRAF3_uc010txy.2_Missense_Mutation_p.T29M	NM_145725	NP_663777	Q13114	TRAF3_HUMAN	Homo sapiens TNF receptor-associated factor 3 (TRAF3), transcript variant 1, mRNA.	29					apoptosis|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|regulation of defense response to virus|regulation of interferon-beta production|regulation of proteolysis|toll-like receptor signaling pathway|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|endosome|internal side of plasma membrane|mitochondrion	signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	p.T29M(2)		breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|liver(2)|lung(7)|ovary(1)|prostate(2)	30		all_cancers(154;7.87e-06)|all_epithelial(191;0.0024)		Epithelial(152;9.92e-24)|all cancers(159;2.23e-21)|OV - Ovarian serous cystadenocarcinoma(161;7.85e-12)|Colorectal(3;0.0971)		AGTGCTGGGACGCCAGTTTTT	0.527000														26			17		0	0	1	0	0
WRN	7486	broad.mit.edu	37	8	30922521	30922521	+	Missense_Mutation	SNP	G	A	A	rs61761625		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:30922521G>A	uc003xio.4	+	4	1234	c.446G>A	c.(445-447)cGt>cAt	p.R149H		NM_000553	NP_000544	Q14191	WRN_HUMAN	Homo sapiens Werner syndrome, RecQ helicase-like (WRN), mRNA.	149	3'-5' exonuclease.|Interaction with WRNIP1 (By similarity).				DNA recombination|DNA synthesis involved in DNA repair|base-excision repair|cellular response to starvation|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to UV-C|response to oxidative stress|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|G-quadruplex DNA binding|Y-form DNA binding|bubble DNA binding|four-way junction helicase activity|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		AAACTTCTACGTGACTTTGAT	0.308000			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome					46			31		0	0	1	0	0
GLRA3	8001	broad.mit.edu	37	4	175598271	175598271	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:175598271C>T	uc003ity.1	-	6	1388	c.885G>A	c.(883-885)acG>acA	p.T295T	GLRA3_uc003itz.1_Silent_p.T295T	NM_006529	NP_006520	O75311	GLRA3_HUMAN	Homo sapiens glycine receptor, alpha 3 (GLRA3), transcript variant 1, mRNA.	295					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity	p.T295M(1)		endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	35		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	Glycine(DB00145)	GTGTAGTCATCGTTAGCACAG	0.463000														28			19		0	0	1	0	0
FHOD3	80206	broad.mit.edu	37	18	34324063	34324063	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:34324063G>A	uc021uiv.1	+	22	4045	c.3948G>A	c.(3946-3948)tcG>tcA	p.S1316S	FHOD3_uc002kzs.1_Silent_p.S1141S|FHOD3_uc002kzt.1_Silent_p.S1124S|FHOD3_uc010dmz.1_Silent_p.S856S|FHOD3_uc010dnb.1_Silent_p.S120S	NM_025135	NP_079411	Q2V2M9	FHOD3_HUMAN	Homo sapiens formin homology 2 domain containing 3 (FHOD3), mRNA.	1124					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				ACAAGCAGTCGCTTCTCCACC	0.488000														61			44		0	0	1	0	0
NCBP2	22916	broad.mit.edu	37	3	196663927	196663927	+	Silent	SNP	G	A	A	rs151326192		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:196663927G>A	uc003fxd.1	-	3	516	c.426C>T	c.(424-426)taC>taT	p.Y142Y	NCBP2_uc003fxb.1_Silent_p.Y72Y|NCBP2_uc011btz.1_Silent_p.Y124Y|NCBP2_uc003fxc.1_Non-coding_Transcript|NCBP2_uc003fxe.1_Silent_p.Y89Y|NCBP2_uc003fxf.3_3'UTR	NM_007362	NP_031388	P52298	NCBP2_HUMAN	Homo sapiens nuclear cap binding protein subunit 2, 20kDa (NCBP2), transcript variant 1, mRNA.	142					gene silencing by RNA|histone mRNA metabolic process|mRNA 3'-end processing|mRNA capping|mRNA export from nucleus|ncRNA metabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of RNA export from nucleus|positive regulation of viral transcription|regulation of translational initiation|snRNA export from nucleus|spliceosomal snRNP assembly|termination of RNA polymerase II transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	cytosol|mRNA cap binding complex|nucleoplasm	RNA 7-methylguanosine cap binding|nucleotide binding|protein binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;3.42e-24)|all cancers(36;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(49;4.13e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00551)		TCCCAGCATCGTAGTCCTGCC	0.453000														49			35		0	0	1	0	0
EXT2	2132	broad.mit.edu	37	11	44219462	44219462	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:44219462C>T	uc001mya.3	+	8	1544	c.1488C>T	c.(1486-1488)taC>taT	p.Y496Y	EXT2_uc010rfo.2_Silent_p.Y491Y|EXT2_uc009ykt.3_Silent_p.Y473Y|EXT2_uc001mxz.3_Silent_p.Y463Y	NM_000401	NP_000392	Q93063	EXT2_HUMAN	Homo sapiens exostosin 2 (EXT2), transcript variant 1, mRNA.	463					glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|protein heterodimerization activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						TCCTCACCTACGACCGAGTAG	0.517000			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Hereditary Multiple Exostoses					55			23		0	0	1	0	0
SYNM	23336	broad.mit.edu	37	15	99672460	99672460	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:99672460G>A	uc002bup.3	+	4	4012	c.3892G>A	c.(3892-3894)Gaa>Aaa	p.E1298K	SYNM_uc002buo.3_Intron|SYNM_uc002buq.3_Intron	NM_145728	NP_663780	O15061	SYNEM_HUMAN	Homo sapiens synemin, intermediate filament protein (SYNM), transcript variant A, mRNA.	1299	Interaction with DMD and UTRN.|Interaction with TLN1 and VCL.|Tail.				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						TGTACACATGGAAGGGTTGCC	0.532000														91			49		0	0	1	0	0
CASQ2	845	broad.mit.edu	37	1	116269612	116269612	+	Splice_Site	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:116269612C>A	uc001efx.4	-	6	1001	c.737_splice	c.e6+1	p.R246_splice	CASQ2_uc010owu.2_Splice_Site_p.R175_splice	NM_001232	NP_001223	O14958	CASQ2_HUMAN	Homo sapiens calsequestrin 2 (cardiac muscle) (CASQ2), nuclear gene encoding mitochondrial protein, mRNA.	246					heart development|striated muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	18	Lung SC(450;0.211)	all_cancers(81;1.25e-06)|all_epithelial(167;1.02e-06)|all_lung(203;8.03e-06)|Lung NSC(69;5.01e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		ATCTCAGGCACCTTTGGTGTT	0.532000														13			10		0.00010058	0.000109296	1	1	0
CNPY3	10695	broad.mit.edu	37	6	42902286	42902286	+	Silent	SNP	G	A	A	rs75557671	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:42902286G>A	uc003ota.4	+	1	674	c.225G>A	c.(223-225)acG>acA	p.T75T	CNPY3_uc003osy.2_Non-coding_Transcript|CNPY3_uc003otb.4_Intron	NM_006586	NP_006577	Q9BT09	CNPY3_HUMAN	Homo sapiens canopy 3 homolog (zebrafish) (CNPY3), mRNA.	75	Saposin B-type.				innate immune response	endoplasmic reticulum		p.T75M(1)		central_nervous_system(1)|endometrium(1)|lung(3)|ovary(1)	6	Colorectal(47;0.196)		all cancers(41;0.000954)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388)			TGATTGGCACGGGCTATGGCA	0.562000														27			16		0	0	1	0	0
TRAF6	7189	broad.mit.edu	37	11	36511763	36511763	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:36511763C>T	uc001mwq.2	-	7	1575	c.1194G>A	c.(1192-1194)ccG>ccA	p.P398P	TRAF6_uc001mws.2_Silent_p.P398P	NM_145803	NP_665802	Q9Y4K3	TRAF6_HUMAN	Homo sapiens TNF receptor-associated factor 6 (TRAF6), transcript variant 1, mRNA.	398	MATH.				JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T cell receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|innate immune response|membrane protein intracellular domain proteolysis|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|ossification|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|positive regulation of interleukin-2 production|positive regulation of osteoclast differentiation|protein K63-linked ubiquitination|protein autoubiquitination|response to interleukin-1|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cell cortex|cytosol|endosome membrane|internal side of plasma membrane|nuclear membrane	histone deacetylase binding|mitogen-activated protein kinase kinase kinase binding|protein N-terminus binding|protein kinase B binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)	27	all_lung(20;0.211)	all_hematologic(20;0.107)				GCTGAGCAGTCGGTAACTGAA	0.493000														74			19		0	0	1	0	0
PRAM1	84106	broad.mit.edu	37	19	8563583	8563583	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:8563583G>T	uc002mkd.3	-	1	1172	c.1109C>A	c.(1108-1110)cCg>cAg	p.P370Q		NM_032152	NP_115528	Q96QH2	PRAM_HUMAN	Homo sapiens PML-RARA regulated adaptor molecule 1 (PRAM1), mRNA.	418	Pro-rich.						lipid binding|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)	19						CTCAGGCTGCGGGTGTCTCTT	0.667000														4			3		0.115264	0.116841	1	1	0
MYO7B	4648	broad.mit.edu	37	2	128354116	128354116	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:128354116G>A	uc002top.3	+	18	2377	c.2324G>A	c.(2323-2325)cGg>cAg	p.R775Q		NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN	Homo sapiens myosin VIIB (MYO7B), mRNA.	775	IQ 2.					apical plasma membrane|myosin complex	ATP binding|actin binding|motor activity	p.R775W(1)		breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		AAAGTCCTTCGGGGCTACAGA	0.617000														8			5		0	0	1	0	0
SEC24D	9871	broad.mit.edu	37	4	119754819	119754819	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:119754819C>T	uc003ici.4	-	1	305	c.33G>A	c.(31-33)ccG>ccA	p.P11P	SEC24D_uc003icj.4_Silent_p.P11P|SEC24D_uc003icl.2_Non-coding_Transcript|SEC24D_uc010imz.1_Non-coding_Transcript|SEC24D_uc011cgg.1_Non-coding_Transcript	NM_014822	NP_055637	O94855	SC24D_HUMAN	Homo sapiens SEC24 family, member D (S. cerevisiae) (SEC24D), mRNA.	11	Pro-rich.				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|Golgi membrane|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	zinc ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						GCTGAGAATACGGAGGTGTAG	0.433000														48			22		0	0	1	0	0
MYBPC1	4604	broad.mit.edu	37	12	102041871	102041871	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:102041871G>A	uc001tii.3	+	11	1204	c.1064G>A	c.(1063-1065)tGt>tAt	p.C355Y	MYBPC1_uc001tif.2_Missense_Mutation_p.C368Y|MYBPC1_uc001tig.3_Missense_Mutation_p.C380Y|MYBPC1_uc010svr.2_Missense_Mutation_p.C355Y|MYBPC1_uc010svs.2_Missense_Mutation_p.C355Y|MYBPC1_uc001tij.3_Missense_Mutation_p.C355Y|MYBPC1_uc010svt.2_Missense_Mutation_p.C343Y|MYBPC1_uc010svu.2_Missense_Mutation_p.C336Y|MYBPC1_uc001tik.3_Missense_Mutation_p.C329Y|MYBPC1_uc001tih.3_Missense_Mutation_p.C380Y|MYBPC1_uc010svq.2_Missense_Mutation_p.C342Y	NM_206820	NP_996556	Q00872	MYPC1_HUMAN	Homo sapiens myosin binding protein C, slow type (MYBPC1), transcript variant 3, mRNA.	355	Ig-like C2-type 3.				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						ACTGCTTATTGTGGGGAGAGA	0.378000														77			11		0	0	1	0	0
PHF21B	112885	broad.mit.edu	37	22	45309846	45309846	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:45309846G>A	uc003bfn.3	-	4	838	c.687C>T	c.(685-687)ttC>ttT	p.F229F	PHF21B_uc011aqk.2_Intron|PHF21B_uc003bfm.3_Intron|PHF21B_uc011aql.2_Intron|PHF21B_uc011aqm.1_Intron	NM_138415	NP_612424	Q96EK2	PF21B_HUMAN	Homo sapiens PHD finger protein 21B (PHF21B), transcript variant 1, mRNA.	229							zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2)	25		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)		TGATGACCTGGAAGATGCCAT	0.647000														44			37		0	0	1	0	0
TNS1	7145	broad.mit.edu	37	2	218755688	218755688	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:218755688C>A	uc002vgt.2	-	9	886	c.488G>T	c.(487-489)aGa>aTa	p.R163I	TNS1_uc002vgr.2_Missense_Mutation_p.R163I|TNS1_uc002vgs.2_Missense_Mutation_p.R163I|TNS1_uc010zjv.1_Missense_Mutation_p.R163I|TNS1_uc010fvj.1_Missense_Mutation_p.R231I|TNS1_uc010fvk.1_Missense_Mutation_p.R288I|TNS1_uc002vgu.3_Missense_Mutation_p.R194I	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN	Homo sapiens tensin 1 (TNS1), mRNA.	163	Phosphatase tensin-type.					cytoplasm|cytoskeleton|focal adhesion	actin binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		GACCCACCTTCTTTGGGATGG	0.557000														43			8		0.00307968	0.00322291	1	1	0
MED12L	116931	broad.mit.edu	37	3	151129147	151129147	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:151129147C>A	uc003eyp.3	+	38	6016	c.5887C>A	c.(5887-5889)Ctg>Atg	p.L1963M	MED12L_uc011bnz.2_Intron	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	Homo sapiens mediator complex subunit 12-like (MED12L), mRNA.	1963	Gln-rich.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CAGTGTGGTCCTGTCTCCCAG	0.557000														58			5		8.12818e-05	8.84769e-05	1	1	0
GMPPA	29926	broad.mit.edu	37	2	220366664	220366664	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:220366664G>A	uc002vlv.3	+	4	709	c.334G>A	c.(334-336)Gtg>Atg	p.V112M	GMPPA_uc002vlr.3_Missense_Mutation_p.V112M	NM_205847	NP_995319	Q96IJ6	GMPPA_HUMAN	Homo sapiens GDP-mannose pyrophosphorylase A (GMPPA), transcript variant 2, mRNA.	112					GDP-mannose biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine		GTP binding|mannose-1-phosphate guanylyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20		Renal(207;0.0183)		Epithelial(149;3.82e-10)|all cancers(144;6.25e-08)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00807)|READ - Rectum adenocarcinoma(5;0.148)		GGCATTCTTCGTGCTCAATGC	0.577000														93			52		0	0	1	0	0
ZBED4	9889	broad.mit.edu	37	22	50278317	50278317	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:50278317G>A	uc003bix.2	+	1	1477	c.1007G>A	c.(1006-1008)cGc>cAc	p.R336H	ZBED4_uc021wrx.1_Missense_Mutation_p.R336H	NM_014838	NP_055653	O75132	ZBED4_HUMAN	Homo sapiens zinc finger, BED-type containing 4 (ZBED4), mRNA.	336						cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		AGGGCACACCGCGCCATCGTG	0.637000														44			23		0	0	1	0	0
KCNF1	3754	broad.mit.edu	37	2	11053347	11053347	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:11053347C>A	uc002rax.3	+	0	1285	c.795C>A	c.(793-795)ccC>ccA	p.P265P		NM_002236	NP_002227	Q9H3M0	KCNF1_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily F, member 1 (KCNF1), mRNA.	265						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		CCATCCTCCCCTTCTACGTGA	0.627000														30			10		0.00010058	0.000109296	1	1	0
LILRB1	10859	broad.mit.edu	37	19	55148190	55148190	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:55148190C>T	uc002qgj.3	+	15	2154	c.1814C>T	c.(1813-1815)gCa>gTa	p.A605V	LILRB1_uc002qgl.3_Missense_Mutation_p.A606V|LILRB1_uc002qgk.3_Missense_Mutation_p.A606V|LILRB1_uc002qgm.3_Missense_Mutation_p.A607V|LILRB1_uc010erq.3_Missense_Mutation_p.A589V|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.	605					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)		CAGGCTGCTGCATCTGAAGCC	0.647000										HNSCC(37;0.09)				24			7		0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196674469	196674469	+	Splice_Site	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:196674469C>T	uc002utj.4	-	52	9989	c.9888_splice	c.e52+1	p.A3296_splice		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	3296					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CAGTACTGACCGCCCGCTCAT	0.328000														36			24		0	0	1	0	0
MGA	23269	broad.mit.edu	37	15	42042740	42042740	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:42042740C>T	uc010ucy.2	+	16	7116	c.6935C>T	c.(6934-6936)aCt>aTt	p.T2312I	MGA_uc010ucz.2_Missense_Mutation_p.T2103I|MGA_uc010uda.1_Missense_Mutation_p.T928I|MGA_uc001zoi.3_Missense_Mutation_p.T526I	NM_001164273	NP_001157745	Q8IWI9	MGAP_HUMAN	Homo sapiens MAX gene associated (MGA), transcript variant 1, mRNA.	2273						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		AATGAGAAAACTGATGATTCT	0.403000														11			5		0	0	1	0	0
SYTL2	54843	broad.mit.edu	37	11	85445108	85445108	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:85445108G>A	uc010rth.2	-	5	1650	c.1261C>T	c.(1261-1263)Cat>Tat	p.H421Y	SYTL2_uc010rtg.2_Missense_Mutation_p.H422Y|SYTL2_uc010rti.2_Missense_Mutation_p.H421Y|SYTL2_uc010rtj.2_Missense_Mutation_p.H373Y|SYTL2_uc001pbf.4_Missense_Mutation_p.H421Y|SYTL2_uc010rtf.2_Missense_Mutation_p.H279Y	NM_001162951	NP_001156423	Q9HCH5	SYTL2_HUMAN	Homo sapiens synaptotagmin-like 2 (SYTL2), transcript variant g, mRNA.	421					intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	Rab GTPase binding|neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		GAATGAGAATGCAGCCCATTA	0.378000														76			59		0	0	1	0	0
FKTN	2218	broad.mit.edu	37	9	108382276	108382276	+	Missense_Mutation	SNP	T	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:108382276T>A	uc004bcr.3	+	9	1322	c.1106T>A	c.(1105-1107)tTc>tAc	p.F369Y	FKTN_uc011lvx.2_Missense_Mutation_p.F369Y|FKTN_uc004bcs.3_Missense_Mutation_p.F369Y|FKTN_uc011lvy.2_Intron|FKTN_uc010mtm.3_Missense_Mutation_p.F237Y	NM_001079802	NP_006722	O75072	FKTN_HUMAN	Homo sapiens fukutin (FKTN), transcript variant 1, mRNA.	369					muscle organ development|negative regulation of JNK cascade|negative regulation of cell proliferation|nervous system development|regulation of protein glycosylation	Golgi membrane|cis-Golgi network|endoplasmic reticulum|extracellular space|integral to membrane|nucleus	transferase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	25						GATGTTTTTTTCTTCTATGAA	0.353000														36			8		0	0	1	0	0
ROBO1	6091	broad.mit.edu	37	3	78763663	78763663	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:78763663C>T	uc003dqe.2	-	7	1137	c.929G>A	c.(928-930)cGa>cAa	p.R310Q	ROBO1_uc003dqc.2_Missense_Mutation_p.R271Q|ROBO1_uc003dqd.2_Missense_Mutation_p.R271Q|ROBO1_uc003dqb.2_Missense_Mutation_p.R271Q|ROBO1_uc003dqf.1_5'UTR	NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 1 (Drosophila) (ROBO1), transcript variant 1, mRNA.	310	Ig-like C2-type 3.				Roundabout signaling pathway|activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis	cell surface|cytoplasm|integral to plasma membrane	LRR domain binding|axon guidance receptor activity|identical protein binding			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		ATGATCATCTCGGATTTCATA	0.378000														17			14		0	0	1	0	0
EPHA8	2046	broad.mit.edu	37	1	22903303	22903303	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:22903303C>T	uc001bfx.1	+	2	878	c.753C>T	c.(751-753)ggC>ggT	p.G251G	EPHA8_uc001bfw.3_Silent_p.G251G	NM_020526	NP_065387	P29322	EPHA8_HUMAN	Homo sapiens EPH receptor A8 (EPHA8), transcript variant 1, mRNA.	251	Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GCGCGGAGGGCGAGTGGCTCG	0.682000														13			14		0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	138400110	138400110	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:138400110G>A	uc002tva.1	+	19	3762	c.3762G>A	c.(3760-3762)cgG>cgA	p.R1254R	THSD7B_uc010zbj.1_Intron	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GAGAAGGACGGCCATGCCCCA	0.512000														96			8		0	0	1	0	0
TSPAN8	7103	broad.mit.edu	37	12	71551452	71551452	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:71551452C>A	uc009zrt.1	-	0	169	c.7G>T	c.(7-9)Ggt>Tgt	p.G3C	TSPAN8_uc001swk.1_Missense_Mutation_p.G3C|TSPAN8_uc001swj.1_Missense_Mutation_p.G3C	NM_004616	NP_004607	P19075	TSN8_HUMAN	Homo sapiens tetraspanin 8 (TSPAN8), mRNA.	3					protein glycosylation	integral to membrane|lysosome	signal transducer activity			breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(7)|skin(3)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(43;0.24)|OV - Ovarian serous cystadenocarcinoma(12;0.244)			GCACTCACACCTGCCATTTCG	0.393000														58			4		0.000602214	0.000641151	1	1	0
WDR75	84128	broad.mit.edu	37	2	190331306	190331306	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:190331306A>G	uc002uql.1	+	12	1505	c.1445A>G	c.(1444-1446)tAc>tGc	p.Y482C	WDR75_uc002uqm.1_Missense_Mutation_p.Y418C|WDR75_uc002uqn.1_Missense_Mutation_p.Y260C	NM_032168	NP_115544	Q8IWA0	WDR75_HUMAN	Homo sapiens WD repeat domain 75 (WDR75), mRNA.	482						nucleolus				breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456)			TCTGACATATACAGTAAGTTA	0.333000														36			25		0	0	1	0	0
LAMA5	3911	broad.mit.edu	37	20	60902974	60902974	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:60902974G>A	uc002ycq.3	-	35	4812	c.4745C>T	c.(4744-4746)gCg>gTg	p.A1582V	LAMA5_uc021wfw.1_Missense_Mutation_p.A1582V	NM_005560	NP_005551	O15230	LAMA5_HUMAN	Homo sapiens laminin, alpha 5 (LAMA5), mRNA.	1582	Laminin EGF-like 15.				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)	CGCAGTGCCCGCCTCGTGACA	0.667000														36			16		0	0	1	0	0
RSPRY1	89970	broad.mit.edu	37	16	57254721	57254721	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:57254721G>A	uc002elb.3	+	8	1257	c.979G>A	c.(979-981)Gtc>Atc	p.V327I	RSPRY1_uc002elc.3_Missense_Mutation_p.V327I|RSPRY1_uc002eld.3_Missense_Mutation_p.V327I	NM_133368	NP_588609	Q96DX4	RSPRY_HUMAN	Homo sapiens ring finger and SPRY domain containing 1 (RSPRY1), mRNA.	327	B30.2/SPRY.					extracellular region	zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3)	27						TAGCAATGATGTCAGCGAGTA	0.423000														41			26		0	0	1	0	0
ADAM22	53616	broad.mit.edu	37	7	87822530	87822530	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:87822530G>T	uc003ujn.3	+	29	2891	c.2676G>T	c.(2674-2676)aaG>aaT	p.K892N	ADAM22_uc003ujm.3_Missense_Mutation_p.K885N|ADAM22_uc003ujo.3_Missense_Mutation_p.K856N	NM_021723	NP_068369	Q9P0K1	ADA22_HUMAN	Homo sapiens ADAM metallopeptidase domain 22 (ADAM22), transcript variant 1, mRNA.	892					cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			ATGAGGACAAGAAAGTGAACC	0.428000														43			11		6.40141e-05	6.99953e-05	1	1	0
GPR179	440435	broad.mit.edu	37	17	36493548	36493548	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:36493548C>T	uc002hpz.3	-	2	980	c.959G>A	c.(958-960)cGa>cAa	p.R320Q		NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN	Homo sapiens G protein-coupled receptor 179 (GPR179), mRNA.	320						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				GAATCCAGGTCGGCAGCGGCA	0.557000														19			14		0	0	1	0	0
CRTAM	56253	broad.mit.edu	37	11	122726544	122726544	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:122726544C>T	uc001pyj.3	+	4	632	c.632C>T	c.(631-633)cCc>cTc	p.P211L		NM_019604	NP_062550	O95727	CRTAM_HUMAN	Homo sapiens cytotoxic and regulatory T cell molecule (CRTAM), mRNA.	211					cell recognition|detection of tumor cell|positive regulation of cytokine secretion|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	integral to membrane|plasma membrane	receptor binding			breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|prostate(1)	19		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		CTAGTAGCACCCTTCCGGTTT	0.368000														29			24		0	0	1	0	0
ARHGEF1	9138	broad.mit.edu	37	19	42396878	42396878	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:42396878G>A	uc002orx.3	+	6	681	c.572G>A	c.(571-573)cGg>cAg	p.R191Q	ARHGEF1_uc002orw.1_Missense_Mutation_p.R191Q|ARHGEF1_uc002ory.3_Missense_Mutation_p.R158Q|ARHGEF1_uc002orz.3_Missense_Mutation_p.R29Q|ARHGEF1_uc002osa.3_Missense_Mutation_p.R206Q|ARHGEF1_uc002osb.3_Missense_Mutation_p.R173Q|ARHGEF1_uc002osc.3_5'Flank	NM_004706	NP_004697	Q92888	ARHG1_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 1 (ARHGEF1), transcript variant 2, mRNA.	191	RGSL.				Rho protein signal transduction|cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction	cytosol|plasma membrane	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|protein binding			breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		GCCCGGGAGCGGCACGTGGCG	0.706000														13			6		0	0	1	0	0
CLIP4	79745	broad.mit.edu	37	2	29386732	29386732	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:29386732G>T	uc002rmv.3	+	12	1809	c.1570G>T	c.(1570-1572)Ggc>Tgc	p.G524C	CLIP4_uc002rmu.3_Missense_Mutation_p.G524C|CLIP4_uc002rmw.3_Non-coding_Transcript	NM_024692	NP_078968	Q8N3C7	CLIP4_HUMAN	Homo sapiens CAP-GLY domain containing linker protein family, member 4 (CLIP4), mRNA.	524	CAP-Gly 2.									endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1)	26	Acute lymphoblastic leukemia(172;0.155)					AAAACCCCATGGCAAGAATGA	0.393000														67			33		4.65686e-17	5.91956e-17	1	1	0
CTBP1	1487	broad.mit.edu	37	4	1232011	1232011	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:1232011G>A	uc003gcw.3	-	1	320	c.155C>T	c.(154-156)gCc>gTc	p.A52V	CTBP1_uc003gcu.1_Missense_Mutation_p.A41V|CTBP1_uc003gcv.1_Missense_Mutation_p.A52V|CTBP1_uc003gcx.1_Missense_Mutation_p.A41V	NM_001328	NP_001319	Q13363	CTBP1_HUMAN	Homo sapiens C-terminal binding protein 1 (CTBP1), transcript variant 1, mRNA.	52	Interaction with GLIS2 1 (By similarity).				interspecies interaction between organisms|negative regulation of cell proliferation|negative regulation of histone H4 acetylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone deacetylation|protein phosphorylation|regulation of cell cycle|regulation of transcription by chromatin organization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|viral genome replication|white fat cell differentiation	cytoplasm|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein C-terminus binding|protein domain specific binding|transcription factor binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	8			OV - Ovarian serous cystadenocarcinoma(23;0.00818)	Colorectal(103;0.2)		GTCGCAGAAGGCCACAGTGGC	0.657000														52			36		0	0	1	0	0
CDC14B	8555	broad.mit.edu	37	9	99285970	99285970	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:99285970G>A	uc004awj.3	-	9	1436	c.984C>T	c.(982-984)taC>taT	p.Y328Y	CDC14B_uc004awk.3_Silent_p.Y328Y|CDC14B_uc004awl.3_Non-coding_Transcript|CDC14B_uc004awi.3_Silent_p.Y291Y	NM_033331	NP_201588	O60729	CC14B_HUMAN	Homo sapiens CDC14 cell division cycle 14 homolog B (S. cerevisiae) (CDC14B), transcript variant 2, mRNA.	328	B.				DNA repair|G2/M transition DNA damage checkpoint|activation of anaphase-promoting complex activity	nucleolus|nucleoplasm	protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	15		Acute lymphoblastic leukemia(62;0.0559)				GCTTCATGATGTAGCAGGCTA	0.517000														25			15		0	0	1	0	0
NLRC4	58484	broad.mit.edu	37	2	32475470	32475470	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:32475470C>T	uc002roi.3	-	3	1724	c.1463G>A	c.(1462-1464)aGc>aAc	p.S488N	NLRC4_uc021vfq.1_Missense_Mutation_p.S488N|NLRC4_uc002roj.2_Missense_Mutation_p.S488N|NLRC4_uc010ezt.2_Intron	NM_001199138	NP_001186067	Q9NPP4	NLRC4_HUMAN	Homo sapiens NLR family, CARD domain containing 4 (NLRC4), transcript variant 2, mRNA.	488					activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					GAGCAGGCTGCTATAAGTGGA	0.512000														37			19		0	0	1	0	0
XG	7499	broad.mit.edu	37	X	2729415	2729415	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:2729415G>A	uc004cqp.3	+	9	716	c.493G>A	c.(493-495)Gtg>Atg	p.V165M	XG_uc011mhg.2_Missense_Mutation_p.V150M	NM_001141919	NP_001135391	P55808	XG_HUMAN	Homo sapiens Xg blood group (XG), transcript variant 2, mRNA.	150						integral to membrane|plasma membrane				endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	8		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				CATCGTATCCGTGGTGGTGGT	0.453000														22			4		0	0	1	0	0
EIF3A	8661	broad.mit.edu	37	10	120832515	120832515	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:120832515C>T	uc001ldu.3	-	3	574	c.428G>A	c.(427-429)aGa>aAa	p.R143K	EIF3A_uc010qsu.2_Missense_Mutation_p.R109K	NM_003750	NP_003741	Q14152	EIF3A_HUMAN	Homo sapiens eukaryotic translation initiation factor 3, subunit A (EIF3A), mRNA.	143					formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity			endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		TAAAAGTAATCTGTCAGTACG	0.393000														32			26		0	0	1	0	0
TPK1	27010	broad.mit.edu	37	7	144288549	144288549	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:144288549G>A	uc003weq.3	-	6	571	c.468C>T	c.(466-468)atC>atT	p.I156I	TPK1_uc003weo.3_Intron|TPK1_uc003wep.3_Non-coding_Transcript|TPK1_uc003wer.3_Intron|TPK1_uc003wes.3_Non-coding_Transcript	NM_022445	NP_071890	Q9H3S4	TPK1_HUMAN	Homo sapiens thiamin pyrophosphokinase 1 (TPK1), transcript variant 1, mRNA.	156					thiamine diphosphate biosynthetic process	cytosol	ATP binding|kinase activity|thiamine diphosphokinase activity	p.I155V(1)		large_intestine(3)|lung(12)|ovary(2)|urinary_tract(2)	19					Thiamine(DB00152)	ATTCCTCTTGGATTATTATAA	0.443000														71			104		0	0	1	0	0
PI4K2B	55300	broad.mit.edu	37	4	25258202	25258202	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:25258202C>T	uc003grk.2	+	3	795	c.662C>T	c.(661-663)gCg>gTg	p.A221V	PI4K2B_uc011bxs.2_Missense_Mutation_p.A125V	NM_018323	NP_060793	Q8TCG2	P4K2B_HUMAN	Homo sapiens phosphatidylinositol 4-kinase type 2 beta (PI4K2B), mRNA.	221	PI3K/PI4K.					cytoplasm|membrane	1-phosphatidylinositol 4-kinase activity|ATP binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|skin(3)	15		Breast(46;0.173)				AACTATAATGCGATTGACCGT	0.353000														59			33		0	0	1	0	0
IL1RAP	3556	broad.mit.edu	37	3	190345207	190345207	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:190345207G>A	uc010hzg.2	+	8	1292	c.871G>A	c.(871-873)Gac>Aac	p.D291N	IL1RAP_uc003fsk.3_Missense_Mutation_p.D291N|IL1RAP_uc003fsl.3_Missense_Mutation_p.D291N|IL1RAP_uc003fsm.2_Missense_Mutation_p.D291N|IL1RAP_uc003fso.2_Missense_Mutation_p.D291N|IL1RAP_uc003fsn.2_Non-coding_Transcript|IL1RAP_uc003fsp.2_Non-coding_Transcript|IL1RAP_uc003fsq.3_Missense_Mutation_p.D291N	NM_001167928	NP_002173	Q9NPH3	IL1AP_HUMAN	Homo sapiens interleukin 1 receptor accessory protein (IL1RAP), transcript variant 3, mRNA.	291	Ig-like C2-type 3.				inflammatory response|innate immune response|protein complex assembly	extracellular region|integral to plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20	all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21)		Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06)	GBM - Glioblastoma multiforme(93;0.00851)		AAAACCTGATGACATCACTAT	0.418000														65			4		0	0	1	0	0
PLEKHM3	389072	broad.mit.edu	37	2	208866154	208866154	+	Silent	SNP	G	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:208866154G>C	uc002vcl.2	-	1	700	c.210C>G	c.(208-210)ggC>ggG	p.G70G	PLEKHM3_uc002vcm.2_Silent_p.G70G	NM_001080475	NP_001073944	Q6ZWE6	PKHM3_HUMAN	Homo sapiens pleckstrin homology domain containing, family M, member 3 (PLEKHM3), mRNA.	70					intracellular signal transduction		metal ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CCCAAATCATGCCCCCCTTGC	0.502000														43			18		0	0	1	0	0
MAGI1	9223	broad.mit.edu	37	3	65425626	65425626	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:65425626G>T	uc003dmn.3	-	8	1724	c.1198C>A	c.(1198-1200)Ctt>Att	p.L400I	MAGI1_uc003dmm.3_Missense_Mutation_p.L400I|MAGI1_uc003dmo.3_Missense_Mutation_p.L400I|MAGI1_uc003dmp.3_Missense_Mutation_p.L400I|MAGI1_uc010hny.2_Missense_Mutation_p.L285I|MAGI1_uc021xac.1_Missense_Mutation_p.L401I	NM_001033057	NP_001028229	Q96QZ7	MAGI1_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 1 (MAGI1), transcript variant 3, mRNA.	400					cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		tgctgctCAAGCTGCTTCTTC	0.502000											OREG0015658	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		59			4		0.00024832	0.000267289	1	1	0
C5orf22	55322	broad.mit.edu	37	5	31552974	31552974	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:31552974C>A	uc003jhj.4	+	8	1421	c.1294C>A	c.(1294-1296)Ctc>Atc	p.L432I	C5orf22_uc003jhk.4_Missense_Mutation_p.L167I|C5orf22_uc010iuj.3_Missense_Mutation_p.L167I	NM_018356	NP_060826	Q49AR2	CE022_HUMAN	Homo sapiens chromosome 5 open reading frame 22 (C5orf22), mRNA.	432										kidney(3)|large_intestine(2)|lung(10)|ovary(2)|skin(1)	18						AAATCTAGACCTCCAAGTGTA	0.403000														74			23		2.41591e-17	3.07667e-17	1	1	0
SAMD9L	219285	broad.mit.edu	37	7	92762895	92762895	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:92762895G>T	uc003umh.1	-	4	3606	c.2390C>A	c.(2389-2391)cCt>cAt	p.P797H	SAMD9L_uc003umj.1_Missense_Mutation_p.P797H|SAMD9L_uc003umi.1_Missense_Mutation_p.P797H|SAMD9L_uc010lfb.1_Missense_Mutation_p.P797H|SAMD9L_uc003umk.1_Missense_Mutation_p.P797H|SAMD9L_uc010lfc.1_Missense_Mutation_p.P797H|SAMD9L_uc010lfd.1_Missense_Mutation_p.P797H|SAMD9L_uc022ahh.1_Missense_Mutation_p.P797H	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA.	797										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			GAGAAGCACAGGAATGTAATC	0.383000														113			39		2.75727e-19	3.5466e-19	1	1	0
KIN	22944	broad.mit.edu	37	10	7801869	7801869	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:7801869G>A	uc001ijt.3	-	11	1197	c.1103C>T	c.(1102-1104)aCt>aTt	p.T368I	KIN_uc010qaz.2_Non-coding_Transcript|KIN_uc010qba.2_Missense_Mutation_p.T262I	NM_012311	NP_036443	O60870	KIN17_HUMAN	Homo sapiens KIN, antigenic determinant of recA protein homolog (mouse) (KIN), transcript variant 1, mRNA.	368	C-terminal subdomain B.				DNA recombination|DNA repair|DNA replication|interspecies interaction between organisms|mRNA processing	cytoplasm|nuclear matrix	RNA binding|double-stranded DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(2)	19						AATGACGATAGTAGCTGAAAA	0.303000														57			4		0	0	1	0	0
TPR	7175	broad.mit.edu	37	1	186286670	186286670	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:186286670G>A	uc001grv.3	-	48	7181	c.6884C>T	c.(6883-6885)tCt>tTt	p.S2295F	MIR548F1_uc021pgf.1_Intron	NM_003292	NP_003283	P12270	TPR_HUMAN	Homo sapiens translocated promoter region (to activated MET oncogene) (TPR), mRNA.	2295					carbohydrate metabolic process|glucose transport|mRNA transport|mitotic cell cycle spindle assembly checkpoint|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		TGACTCATCAGATGCTTGAAC	0.438000			T	NTRK1	papillary thyroid									36			19		0	0	1	0	0
NAMPT	10135	broad.mit.edu	37	7	105893480	105893480	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:105893480G>T	uc003vdq.3	-	9	1656	c.1348C>A	c.(1348-1350)Ctt>Att	p.L450I		NM_005746	NP_005737	P43490	NAMPT_HUMAN	Homo sapiens nicotinamide phosphoribosyltransferase (NAMPT), mRNA.	450					NAD biosynthetic process|cell-cell signaling|nicotinamide metabolic process|positive regulation of cell proliferation|positive regulation of nitric-oxide synthase biosynthetic process|signal transduction|water-soluble vitamin metabolic process	cytosol	cytokine activity|nicotinamide phosphoribosyltransferase activity|nicotinate phosphoribosyltransferase activity|nicotinate-nucleotide diphosphorylase (carboxylating) activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14						TATTCCTCAAGGTCTCCTTTT	0.398000														103			26		8.24728e-16	1.0418e-15	1	1	0
MAPKAPK3	7867	broad.mit.edu	37	3	50683654	50683654	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:50683654A>G	uc003day.2	+	9	1430	c.788A>G	c.(787-789)tAc>tGc	p.Y263C	MAPKAPK3_uc003daz.2_Missense_Mutation_p.Y263C|MAPKAPK3_uc003dba.2_Missense_Mutation_p.Y263C|MAPKAPK3_uc010hlr.2_Missense_Mutation_p.Y263C	NM_001243926	NP_001230855	Q16644	MAPK3_HUMAN	Homo sapiens mitogen-activated protein kinase-activated protein kinase 3 (MAPKAPK3), transcript variant 1, mRNA.	263	Protein kinase.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Ras protein signal transduction|Toll signaling pathway|activation of MAPK activity|innate immune response|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity			central_nervous_system(1)|ovary(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.0188)|Kidney(197;0.0223)		CTGGGCCAGTACGGCTTCCCC	0.607000														119			11		0	0	1	0	0
EHMT1	79813	broad.mit.edu	37	9	140712546	140712546	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:140712546G>A	uc011mfc.2	+	24	3533	c.3496G>A	c.(3496-3498)Gac>Aac	p.D1166N	EHMT1_uc004coe.3_Missense_Mutation_p.D71N	NM_024757	NP_079033	Q9H9B1	EHMT1_HUMAN	Homo sapiens euchromatic histone-lysine N-methyltransferase 1 (EHMT1), transcript variant 1, mRNA.	1166	Interaction with histone H3.|SET.				DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		CTCAGAAGCCGACGTTCGAGA	0.527000														48			30		0	0	1	0	0
KCTD19	146212	broad.mit.edu	37	16	67325309	67325309	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:67325309C>T	uc002esu.2	-	13	2519	c.2468G>A	c.(2467-2469)tGt>tAt	p.C823Y	KCTD19_uc002est.2_Missense_Mutation_p.C595Y|KCTD19_uc010vjj.1_Missense_Mutation_p.C566Y	NM_001100915	NP_001094385	Q17RG1	KCD19_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 19 (KCTD19), mRNA.	823						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		GAAGCAGTGACATTTCTGTGC	0.507000														33			12		0	0	1	0	0
ZMIZ1	57178	broad.mit.edu	37	10	81060680	81060680	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:81060680C>T	uc001kaf.2	+	16	2572	c.2000C>T	c.(1999-2001)aCc>aTc	p.T667I	ZMIZ1_uc001kag.2_Missense_Mutation_p.T543I	NM_020338	NP_065071	Q9ULJ6	ZMIZ1_HUMAN	Homo sapiens zinc finger, MIZ-type containing 1 (ZMIZ1), mRNA.	667					transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			ATCCAGATCACCGTCACGGCC	0.662000														17			6		0	0	1	0	0
IREB2	3658	broad.mit.edu	37	15	78783036	78783036	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:78783036G>A	uc002bdr.2	+	17	2419	c.2257G>A	c.(2257-2259)Gat>Aat	p.D753N	IREB2_uc010unb.1_Missense_Mutation_p.D503N	NM_004136	NP_004127	P48200	IREB2_HUMAN	Homo sapiens iron-responsive element binding protein 2 (IREB2), mRNA.	753							4 iron, 4 sulfur cluster binding|metal ion binding|protein binding	p.D753N(2)		central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		TGTCACAACAGATCATATATC	0.403000														130			71		0	0	1	0	0
APOC4	346	broad.mit.edu	37	19	45445551	45445551	+	RNA	SNP	A	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:45445551A>T	uc002pah.3	+	0		c.57A>T				NM_001646		P55056	APOC4_HUMAN	Homo sapiens apolipoprotein C-IV (APOC4), mRNA.						lipid metabolic process|positive regulation of sequestering of triglyceride|triglyceride homeostasis	high-density lipoprotein particle|very-low-density lipoprotein particle	lipid transporter activity			breast(1)|endometrium(1)|lung(2)	4	Lung NSC(12;0.00858)|all_lung(12;0.0197)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00334)|Epithelial(262;0.178)		CTCCTCAGAAACAGGCTCCAG	0.672000														5			7		0	0	1	0	0
CHRD	8646	broad.mit.edu	37	3	184099582	184099582	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:184099582G>A	uc003fov.3	+	4	836	c.590G>A	c.(589-591)cGc>cAc	p.R197H	CHRD_uc003fow.3_5'UTR|CHRD_uc003fox.3_Missense_Mutation_p.R197H|CHRD_uc003foy.3_5'UTR|CHRD_uc010hyc.3_5'UTR|CHRD_uc011brr.2_5'Flank	NM_003741	NP_003732	Q9H2X0	CHRD_HUMAN	Homo sapiens chordin (CHRD), mRNA.	197	CHRD 1.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TCTAGCCTCCGCTTCTCTATC	0.672000														9			9		0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144906428	144906428	+	Missense_Mutation	SNP	A	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:144906428A>T	uc021ouh.1	-	17	2731	c.2429T>A	c.(2428-2430)cTc>cAc	p.L810H	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|PDE4DIP_uc001elw.4_Missense_Mutation_p.L810H|PDE4DIP_uc001elx.4_Missense_Mutation_p.L876H|PDE4DIP_uc001emd.2_Missense_Mutation_p.L810H|PDE4DIP_uc001emc.2_Missense_Mutation_p.L810H|PDE4DIP_uc001emb.1_Missense_Mutation_p.L973H|PDE4DIP_uc001eme.1_Intron	NM_001198834	NP_001185763	Q5VU43	MYOME_HUMAN	Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA.	810					cellular protein complex assembly	Golgi apparatus|centrosome|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GACCTTTATGAGATCTTCTTT	0.443000			T	PDGFRB	MPD									147			25		0	0	1	0	0
FAM161A	84140	broad.mit.edu	37	2	62067501	62067501	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:62067501C>T	uc002sbm.4	-	2	740	c.638G>A	c.(637-639)cGc>cAc	p.R213H	FAM161A_uc002sbn.4_Missense_Mutation_p.R23H|FAM161A_uc010ypo.2_Missense_Mutation_p.R213H|FAM161A_uc010fcm.1_Non-coding_Transcript|FAM161A_uc010fcn.1_Missense_Mutation_p.R104H	NM_001201543	NP_001188472	Q3B820	F161A_HUMAN	Homo sapiens family with sequence similarity 161, member A (FAM161A), transcript variant 1, mRNA.	213					response to stimulus|visual perception	centrosome				breast(1)|endometrium(5)|large_intestine(8)|lung(4)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						ATCTTTACAGCGAATATAATC	0.388000														126			10		0	0	1	0	0
ZNF551	90233	broad.mit.edu	37	19	58198994	58198994	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58198994G>A	uc002qpw.4	+	2	1526	c.1303G>A	c.(1303-1305)Gaa>Aaa	p.E435K	ZNF551_uc002qpv.4_Missense_Mutation_p.E378K|ZNF551_uc002qpx.3_Intron	NM_138347	NP_612356	Q7Z340	ZN551_HUMAN	Homo sapiens zinc finger protein 551 (ZNF551), mRNA.	451					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TGAATGCAGAGAATGTGGGAA	0.428000														53			33		0	0	1	0	0
RSF1	51773	broad.mit.edu	37	11	77387955	77387955	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:77387955T>C	uc001oyn.3	-	12	3343	c.3223A>G	c.(3223-3225)Aaa>Gaa	p.K1075E	RSF1_uc001oym.3_Missense_Mutation_p.K823E	NM_016578	NP_057662	Q96T23	RSF1_HUMAN	Homo sapiens remodeling and spacing factor 1 (RSF1), mRNA.	1075					CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			TGGGGTCGTTTATTTTCTTTT	0.468000														114			7		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179414088	179414088	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179414088G>A	uc021vsy.1	-	287	84786	c.84561C>T	c.(84559-84561)atC>atT	p.I28187I	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.I21882I|TTN_uc021vta.1_Silent_p.I21815I|TTN_uc021vtb.1_Silent_p.I21690I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	29114	Fibronectin type-III 105.						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)			TTCTTTCAAGGATATACTGTT	0.443000														64			25		0	0	1	0	0
CRLF1	9244	broad.mit.edu	37	19	18710376	18710376	+	Splice_Site	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:18710376G>A	uc010ebt.2	-	2	591	c.397_splice	c.e2+1	p.L133_splice		NM_004750	NP_004741	O75462	CRLF1_HUMAN	Homo sapiens cytokine receptor-like factor 1 (CRLF1), mRNA.	133					negative regulation of neuron apoptosis|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	cytokine binding|protein heterodimerization activity|receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	9						CCAACTTACGGCCAACATAGA	0.647000														24			22		0	0	1	0	0
CLCNKA	1187	broad.mit.edu	37	1	16376349	16376349	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:16376349T>C	uc001axx.4	+	9	1042	c.906T>C	c.(904-906)tgT>tgC	p.C302C	CLCNKA_uc021ogl.1_Intron|CLCNKA_uc021ogm.1_Silent_p.C133C|CLCNKA_uc001axy.4_Silent_p.C133C	NM_000085	NP_000076	P51800	CLCKA_HUMAN	Homo sapiens chloride channel Kb (CLCNKB), transcript variant 1, mRNA.	302					excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	ACCTCTTCTGTCAGCGAATCT	0.612000														89			55		0	0	1	0	0
TIPARP	25976	broad.mit.edu	37	3	156422836	156422836	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:156422836G>T	uc003fav.3	+	5	2312	c.1890G>T	c.(1888-1890)caG>caT	p.Q630H	TIPARP_uc003faw.3_Missense_Mutation_p.Q630H|TIPARP_uc021xgg.1_Missense_Mutation_p.Q630H	NM_015508	NP_056323	Q7Z3E1	PARPT_HUMAN	Homo sapiens TCDD-inducible poly(ADP-ribose) polymerase (TIPARP), transcript variant 2, mRNA.	630	PARP catalytic.						NAD+ ADP-ribosyltransferase activity|nucleic acid binding|protein binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			ttgagcctcagatttttgtca	0.413000														69			8		0.0381472	0.0388409	1	1	0
CYBRD1	79901	broad.mit.edu	37	2	172398115	172398115	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:172398115C>T	uc002ugy.4	+	1	404	c.214C>T	c.(214-216)Ccg>Tcg	p.P72S	CYBRD1_uc002ugz.4_Intron	NM_024843	NP_079119	Q53TN4	CYBR1_HUMAN	Homo sapiens cytochrome b reductase 1 (CYBRD1), transcript variant 1, mRNA.	72	Cytochrome b561.				cellular iron ion homeostasis|electron transport chain|transmembrane transport	integral to membrane	ferric-chelate reductase activity|metal ion binding			endometrium(1)|kidney(1)|large_intestine(3)|liver(2)|lung(3)	10						CTACAGACTGCCGTGGACCTG	0.438000														49			19		0	0	1	0	0
TM4SF19	116211	broad.mit.edu	37	3	196050709	196050709	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:196050709G>T	uc010iad.2	-	4	763	c.605C>A	c.(604-606)tCt>tAt	p.S202Y	TM4SF19_uc003fwj.3_Non-coding_Transcript|AK124973_uc003fwk.1_5'UTR|TM4SF19_uc003fwl.2_Missense_Mutation_p.F203L|TM4SF19_uc021xjs.1_Missense_Mutation_p.S202Y|TM4SF19_uc011btv.2_Missense_Mutation_p.F177L	NM_001204897	NP_001191826	Q96DZ7	T4S19_HUMAN	Homo sapiens transmembrane 4 L six family member 19 (TM4SF19), transcript variant 2, mRNA.	0						integral to membrane				endometrium(2)|kidney(2)|large_intestine(3)|lung(5)	12	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;3.94e-24)|all cancers(36;4.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.53e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00314)		AGAGGCTGCAGAAAAGGCCCA	0.537000														40			19		4.35082e-09	5.154e-09	1	1	0
IL23R	149233	broad.mit.edu	37	1	67633832	67633832	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:67633832C>T	uc001ddo.3	+	1	114	c.29C>T	c.(28-30)gCa>gTa	p.A10V	IL23R_uc009waz.3_5'UTR|IL23R_uc001ddp.2_5'Flank|IL23R_uc010opi.2_5'Flank|IL23R_uc010opj.2_5'Flank|IL23R_uc010opk.2_5'Flank|IL23R_uc010opl.2_5'Flank|IL23R_uc010opm.2_5'Flank|IL23R_uc001ddq.3_5'Flank|IL23R_uc010opn.2_5'Flank|IL23R_uc001ddr.3_5'Flank	NM_144701	NP_653302	Q5VWK5	IL23R_HUMAN	Homo sapiens interleukin 23 receptor (IL23R), mRNA.	10					inflammatory response|negative regulation of interleukin-10 production|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of interleukin-12 production|positive regulation of memory T cell differentiation|response to interferon-gamma|response to lipopolysaccharide	interleukin-23 receptor complex	receptor activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	21						CAATGGGATGCAGTAATAGCC	0.343000														69			49		0	0	1	0	0
CKAP5	9793	broad.mit.edu	37	11	46791594	46791594	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:46791594G>A	uc001ndi.2	-	25	3367	c.3241C>T	c.(3241-3243)Cca>Tca	p.P1081S	CKAP5_uc009ylg.1_Missense_Mutation_p.P967S|CKAP5_uc001ndj.2_Missense_Mutation_p.P1081S|CKAP5_uc001ndh.1_Missense_Mutation_p.P10S	NM_001008938	NP_001008938	Q14008	CKAP5_HUMAN	Homo sapiens cytoskeleton associated protein 5 (CKAP5), transcript variant 1, mRNA.	1081					G2/M transition of mitotic cell cycle|RNA transport|cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|mitotic prometaphase|spindle organization	centrosome|cytosol	protein binding			breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						GGCTTGGCTGGCATGTTAACT	0.443000														113			9		0	0	1	0	0
SCLY	51540	broad.mit.edu	37	2	238990708	238990708	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:238990708G>A	uc010fyv.3	+	5	766	c.635G>A	c.(634-636)cGc>cAc	p.R212H	SCLY_uc002vxm.4_Missense_Mutation_p.R179H|SCLY_uc010znr.2_Missense_Mutation_p.R118H|SCLY_uc010znq.2_Intron	NM_016510	NP_057594	Q96I15	SCLY_HUMAN	Homo sapiens selenocysteine lyase (SCLY), mRNA.	212					cellular amino acid metabolic process	cytosol	pyridoxal phosphate binding|selenocysteine lyase activity|transferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	22		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;1.37e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.6e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;8.25e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000128)|Lung(119;0.0118)|LUSC - Lung squamous cell carcinoma(224;0.0285)		ATCAGTCAGCGCATTAAAGCC	0.547000														90			48		0	0	1	0	0
DTNBP1	84062	broad.mit.edu	37	6	15615599	15615599	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:15615599C>A	uc003nbm.3	-	5	576	c.387G>T	c.(385-387)gaG>gaT	p.E129D	DTNBP1_uc003nbl.3_Missense_Mutation_p.E48D|DTNBP1_uc010jph.3_Missense_Mutation_p.E116D|DTNBP1_uc003nbp.3_Missense_Mutation_p.E129D	NM_032122	NP_115498	Q96EV8	DTBP1_HUMAN	Homo sapiens dystrobrevin binding protein 1 (DTNBP1), transcript variant 1, mRNA.	129					actin cytoskeleton reorganization|cellular membrane organization|neuron projection morphogenesis|post-Golgi vesicle-mediated transport|regulation of dopamine receptor signaling pathway	BLOC-1 complex|axon part|cell junction|dendritic spine|endoplasmic reticulum membrane|endosome membrane|growth cone|melanosome membrane|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|synaptic vesicle membrane|synaptosome	identical protein binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|skin(2)	14	Breast(50;0.0289)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.211)			GCAGGTTGTTCTCTACCTCCT	0.368000									Hermansky-Pudlak syndrome					52			40		8.16904e-11	9.91136e-11	1	1	0
MYO6	4646	broad.mit.edu	37	6	76618317	76618317	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:76618317C>T	uc003pih.1	+	31	3664	c.3385C>T	c.(3385-3387)Cgt>Tgt	p.R1129C	MYO6_uc003pii.1_Missense_Mutation_p.R1106C|MYO6_uc003pij.1_Missense_Mutation_p.R86C	NM_004999	NP_004990	Q9UM54	MYO6_HUMAN	Homo sapiens myosin VI (MYO6), mRNA.	1138					DNA damage response, signal transduction by p53 class mediator|actin filament-based movement|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	DNA-directed RNA polymerase II, holoenzyme|Golgi apparatus|cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|filamentous actin|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	ADP binding|ATP binding|actin filament binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		AACAGAGCAACGTGCTCCAAA	0.343000														63			36		0	0	1	0	0
KIAA0226	9711	broad.mit.edu	37	3	197402330	197402330	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:197402330G>T	uc003fyc.2	-	18	2886	c.2703C>A	c.(2701-2703)atC>atA	p.I901I	KIAA0226_uc003fyd.3_Silent_p.I856I|KIAA0226_uc021xjw.1_5'Flank	NM_014687	NP_055502	Q92622	RUBIC_HUMAN	Homo sapiens KIAA0226 (KIAA0226), transcript variant 2, mRNA.	901	Cys-rich.				autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding			NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		CAAAGGGAAAGATGATGTCAT	0.537000														163			15		0.000566183	0.000605641	1	1	0
TCF20	6942	broad.mit.edu	37	22	42610042	42610042	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:42610042T>G	uc003bcj.1	-	0	1404	c.1270A>C	c.(1270-1272)Atg>Ctg	p.M424L	TCF20_uc003bck.1_Missense_Mutation_p.M424L	NM_005650	NP_005641	Q9UGU0	TCF20_HUMAN	Homo sapiens transcription factor 20 (AR1) (TCF20), transcript variant 1, mRNA.	424					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						CTGGGCATCATTGATGGGGTT	0.493000														79			10		0	0	1	0	0
LENG9	94059	broad.mit.edu	37	19	54973788	54973788	+	Missense_Mutation	SNP	C	T	T	rs142325287		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:54973788C>T	uc010yez.2	-	0	1107	c.988G>A	c.(988-990)Gag>Aag	p.E330K		NM_198988	NP_945339	Q96B70	LENG9_HUMAN	Homo sapiens leukocyte receptor cluster (LRC) member 9 (LENG9), mRNA.	330					RNA metabolic process	intracellular	catalytic activity|nucleic acid binding|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)	11	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.134)		AGCCCAGGCTCGGTCACCATG	0.627000														28			25		0	0	1	0	0
DDX23	9416	broad.mit.edu	37	12	49230527	49230527	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:49230527T>C	uc001rsm.3	-	9	1152	c.1061A>G	c.(1060-1062)gAt>gGt	p.D354G		NM_004818	NP_004809	Q9BUQ8	DDX23_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 23 (DDX23), mRNA.	354						U5 snRNP|catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding			NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						CCAATGACGATCATCCCAGCG	0.527000														151			12		0	0	1	0	0
ZFAND2B	130617	broad.mit.edu	37	2	220073159	220073159	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:220073159G>A	uc002vka.3	+	5	711	c.539G>A	c.(538-540)cGa>cAa	p.R180Q	ZFAND2B_uc010zkt.2_Missense_Mutation_p.R180Q|ZFAND2B_uc010fwd.1_3'UTR|ZFAND2B_uc002vjz.1_3'UTR|ZFAND2B_uc002vkb.1_Missense_Mutation_p.R71Q	NM_138802	NP_620157	Q8WV99	ZFN2B_HUMAN	Homo sapiens zinc finger, AN1-type domain 2B (ZFAND2B), mRNA.	180						endoplasmic reticulum	protein binding|zinc ion binding			endometrium(2)|kidney(4)|lung(4)|upper_aerodigestive_tract(1)	11		Renal(207;0.0915)		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCCACAACCCGATCTCCGTCC	0.562000														54			20		0	0	1	0	0
FAM171B	165215	broad.mit.edu	37	2	187627518	187627518	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:187627518C>T	uc002ups.3	+	7	2561	c.2449C>T	c.(2449-2451)Cga>Tga	p.R817*	FAM171B_uc002upr.1_Nonsense_Mutation_p.R784*|FAM171B_uc002upt.3_Nonsense_Mutation_p.R286*	NM_177454	NP_803237	Q6P995	F171B_HUMAN	Homo sapiens family with sequence similarity 171, member B (FAM171B), mRNA.	817						integral to membrane	DNA binding			NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						CTGGAAGAAGCGAGAGGAACG	0.433000														26			16		0	0	1	0	0
CHD1	1105	broad.mit.edu	37	5	98209391	98209391	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:98209391A>G	uc003knf.3	-	24	3625	c.3477T>C	c.(3475-3477)gaT>gaC	p.D1159D	CHD1_uc010jbn.3_5'UTR	NM_001270	NP_001261	O14646	CHD1_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 1 (CHD1), mRNA.	1159					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	TTTCTGACTTATCAACTAACT	0.348000														43			29		0	0	1	0	0
PTPN14	5784	broad.mit.edu	37	1	214546151	214546151	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:214546151A>G	uc001hkk.2	-	15	3592	c.2939T>C	c.(2938-2940)aTa>aCa	p.I980T	PTPN14_uc021piy.1_Missense_Mutation_p.I744T	NM_005401	NP_005392	Q15678	PTN14_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 14 (PTPN14), mRNA.	980	Tyrosine-protein phosphatase.				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		CTGGGTGGCTATGTAGTGCCA	0.542000														42			22		0	0	1	0	0
CYP4B1	1580	broad.mit.edu	37	1	47283692	47283692	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:47283692C>T	uc001cqn.4	+	9	1347	c.1263C>T	c.(1261-1263)ccC>ccT	p.P421P	CYP4B1_uc001cqm.4_Silent_p.P420P|CYP4B1_uc009vym.3_Silent_p.P406P|CYP4B1_uc010omk.2_Silent_p.P257P	NM_001099772	NP_001093242	P13584	CP4B1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily B, polypeptide 1 (CYP4B1), transcript variant 1, mRNA.	420					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	p.P420P(2)		NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)					CTGTATGGCCCGACCCTGAGG	0.582000														92			45		0	0	1	0	0
JAG2	3714	broad.mit.edu	37	14	105609257	105609257	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:105609257C>T	uc001yqg.3	-	25	3896	c.3492G>A	c.(3490-3492)gcG>gcA	p.A1164A	JAG2_uc001yqf.3_Silent_p.A568A|JAG2_uc001yqh.3_Silent_p.A1126A	NM_002226	NP_002217	Q9Y219	JAG2_HUMAN	Homo sapiens jagged 2 (JAG2), transcript variant 1, mRNA.	1164					Notch receptor processing|Notch signaling pathway|auditory receptor cell fate commitment|cell communication|cell cycle|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	Notch binding|calcium ion binding|growth factor activity			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		gcccgggcagcgcctcgtccg	0.706000														4			10		0	0	1	0	0
SGCB	6443	broad.mit.edu	37	4	52895891	52895891	+	Nonsense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:52895891C>A	uc003gzj.2	-	2	442	c.382G>T	c.(382-384)Gga>Tga	p.G128*	SGCB_uc011bzp.1_Nonsense_Mutation_p.G58*	NM_000232	NP_000223	Q16585	SGCB_HUMAN	Homo sapiens sarcoglycan, beta (43kDa dystrophin-associated glycoprotein) (SGCB), mRNA.	128	Cys-rich.				cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to plasma membrane|sarcoglycan complex|sarcolemma				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(6)|prostate(1)	17			GBM - Glioblastoma multiforme(4;7.63e-12)|LUSC - Lung squamous cell carcinoma(32;0.00204)			CGCCTTCCTCCTACTGTGCTT	0.428000														40			31		9.65021e-13	1.19376e-12	1	1	0
PDP2	57546	broad.mit.edu	37	16	66918675	66918675	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:66918675C>T	uc021tjw.1	+	0	488	c.488C>T	c.(487-489)tCc>tTc	p.S163F	PDP2_uc002eqk.2_Missense_Mutation_p.S163F	NM_020786	NP_065837	Q9P2J9	PDP2_HUMAN	Homo sapiens pyruvate dehyrogenase phosphatase catalytic subunit 2 (PDP2), mRNA.	163					pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|protein serine/threonine phosphatase complex	[pyruvate dehydrogenase (lipoamide)] phosphatase activity|metal ion binding			kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)		GTGGCAGTGTCCCTGATGTCC	0.547000														27			16		0	0	1	0	0
PIH1D2	120379	broad.mit.edu	37	11	111941312	111941312	+	Missense_Mutation	SNP	T	C	C	rs139191181		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:111941312T>C	uc001pmp.4	-	4	884	c.661A>G	c.(661-663)Att>Gtt	p.I221V	PIH1D2_uc009yyl.3_Missense_Mutation_p.I221V|PIH1D2_uc010rws.1_Missense_Mutation_p.I221V	NM_138789	NP_620144	Q8WWB5	PIHD2_HUMAN	Homo sapiens PIH1 domain containing 2 (PIH1D2), transcript variant 1, mRNA.	221										endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	11		all_cancers(61;1.09e-14)|all_epithelial(67;7.64e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;3.19e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;6.18e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0508)		GTACTGGAAATCTCTTCTATC	0.408000														178			36		0	0	1	0	0
RAB20	55647	broad.mit.edu	37	13	111176381	111176381	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:111176381C>T	uc001vqy.3	-	1	541	c.336G>A	c.(334-336)ggG>ggA	p.G112G		NM_017817	NP_060287	Q9NX57	RAB20_HUMAN	Homo sapiens RAB20, member RAS oncogene family (RAB20), mRNA.	112					protein transport|small GTPase mediated signal transduction	Golgi apparatus	GTP binding			endometrium(2)|large_intestine(2)|lung(3)	7	all_cancers(4;1.54e-11)|all_epithelial(4;1.22e-06)|all_lung(23;1e-05)|Lung NSC(43;0.000453)|Colorectal(4;0.00323)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.197)			CCACTTTGTTCCCCACGATGG	0.612000														35			21		0	0	1	0	0
AQPEP	206338	broad.mit.edu	37	5	115350196	115350196	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:115350196G>A	uc003kro.3	+	15	2586	c.2422G>A	c.(2422-2424)Gca>Aca	p.A808T	AQPEP_uc003krp.3_Non-coding_Transcript|AQPEP_uc003krs.3_Non-coding_Transcript|AQPEP_uc003krq.3_Non-coding_Transcript|AQPEP_uc003krr.3_Non-coding_Transcript	NM_173800	NP_776161	Q6Q4G3	AMPQ_HUMAN	Homo sapiens laeverin (AQPEP), mRNA.	808					proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding										AGAACTTTTCGCAAAATGGGT	0.363000														38			30		0	0	1	0	0
ESPL1	9700	broad.mit.edu	37	12	53684233	53684233	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:53684233G>A	uc001sck.2	+	23	5435	c.5344G>A	c.(5344-5346)Gca>Aca	p.A1782T	ESPL1_uc001scj.2_Missense_Mutation_p.A1457T	NM_012291	NP_036423	Q14674	ESPL1_HUMAN	Homo sapiens extra spindle pole bodies homolog 1 (S. cerevisiae) (ESPL1), mRNA.	1782					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						AGGGCGGCTGGCACTGGACCA	0.577000														48			10		0	0	1	0	0
FLNA	2316	broad.mit.edu	37	X	153589697	153589697	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153589697C>T	uc004fkk.2	-	20	3435	c.3186G>A	c.(3184-3186)gtG>gtA	p.V1062V	FLNA_uc011mzn.1_5'Flank|FLNA_uc010nuu.1_Silent_p.V1062V	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	Homo sapiens filamin A, alpha (FLNA), transcript variant 2, mRNA.	1062					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	Fc-gamma receptor I complex binding|GTP-Ral binding|Rac GTPase binding|actin filament binding|glycoprotein binding|protein homodimerization activity|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGGTGGGGGCCACAGCTTCCA	0.622000														32			24		0	0	1	0	0
FAM213B	127281	broad.mit.edu	37	1	2519811	2519811	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:2519811G>A	uc001ajv.2	+	3	493	c.447G>A	c.(445-447)gcG>gcA	p.A149A	FAM213B_uc021oew.1_Intron|FAM213B_uc021oex.1_Intron|FAM213B_uc001ajw.2_Intron|FAM213B_uc001aju.2_Intron|FAM213B_uc010nzd.2_Intron|FAM213B_uc010nze.2_Intron|FAM213B_uc010nzf.2_Intron|FAM213B_uc001ajx.2_Intron	NM_001195736	NP_001182665	Q8TBF2	PGFS_HUMAN	Homo sapiens family with sequence similarity 213, member B (FAM213B), transcript variant 1, mRNA.	106					prostaglandin biosynthetic process	cytosol	oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor										TTGGCCAAGCGACCTGGTGTC	0.637000														32			27		0	0	1	0	0
KDM6B	23135	broad.mit.edu	37	17	7752261	7752261	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7752261C>T	uc002gix.3	+	0	1398	c.561C>T	c.(559-561)ggC>ggT	p.G187G	KDM6B_uc002giw.1_Silent_p.G885G	NM_001080424	NP_001073893	O15054	KDM6B_HUMAN	Homo sapiens lysine (K)-specific demethylase 6B (KDM6B), mRNA.	885					inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						GCAGGGCGGGCGAAGAGCCAG	0.697000														9			8		0	0	1	0	0
AX746964	0	broad.mit.edu	37	5	140242918	140242918	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140242918C>T	uc003lhy.1	-	0	307	c.58G>A	c.(58-60)Gtg>Atg	p.V20M	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron					SubName: Full=Uncharacterized protein; SubName: Full=cDNA FLJ34090 fis, clone FCBBF3006399;																		TTAGTGCTCACGTTGCTGCTG	0.642000														15			14		0	0	1	0	0
TSNAXIP1	55815	broad.mit.edu	37	16	67858679	67858679	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:67858679C>T	uc010vka.2	+	5	751	c.675C>T	c.(673-675)agC>agT	p.S225S	TSNAXIP1_uc010cep.2_Silent_p.S35S|TSNAXIP1_uc010vjz.1_Intron|TSNAXIP1_uc002euf.4_Intron|TSNAXIP1_uc010vkb.2_Silent_p.S156S|TSNAXIP1_uc002eug.4_5'UTR|TSNAXIP1_uc002euh.4_5'UTR|TSNAXIP1_uc002eui.4_Intron|TSNAXIP1_uc002euj.3_Silent_p.S171S|TSNAXIP1_uc002euk.3_5'UTR	NM_018430	NP_060900	Q2TAA8	TXIP1_HUMAN	Homo sapiens translin-associated factor X interacting protein 1 (TSNAXIP1), mRNA.	171					cell differentiation|multicellular organismal development|spermatogenesis	perinuclear region of cytoplasm				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|soft_tissue(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00432)|Epithelial(162;0.0192)|all cancers(182;0.125)		CATTGCAGAGCGAGGTGAATG	0.478000														14			10		0	0	1	0	0
TRRAP	8295	broad.mit.edu	37	7	98606006	98606006	+	Missense_Mutation	SNP	G	T	T	rs141778269		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:98606006G>T	uc003upp.3	+	68	10927	c.10718G>T	c.(10717-10719)cGg>cTg	p.R3573L	TRRAP_uc011kis.2_Missense_Mutation_p.R3544L|TRRAP_uc003upr.3_Missense_Mutation_p.R3279L	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.	3573	PI3K/PI4K.				histone H2A acetylation|histone H4 acetylation|histone deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CCAGTGCCCCGGGTTGTGGCA	0.627000														110			7		3.09899e-07	3.55757e-07	1	1	0
ATXN1	6310	broad.mit.edu	37	6	16327654	16327654	+	Silent	SNP	G	A	A	rs140153287		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:16327654G>A	uc003nbt.3	-	7	1859	c.888C>T	c.(886-888)tcC>tcT	p.S296S	ATXN1_uc010jpi.3_Silent_p.S296S|ATXN1_uc010jpj.1_Intron	NM_000332	NP_001121636	P54253	ATX1_HUMAN	Homo sapiens ataxin 1 (ATXN1), transcript variant 1, mRNA.	296					RNA processing|cell death|negative regulation of transcription, DNA-dependent|nuclear export	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein C-terminus binding|protein binding|protein self-association			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				AGTGGCTGCCGGAGTCGGCGT	0.657000														24			21		0	0	1	0	0
SERPINA3	12	broad.mit.edu	37	14	95080923	95080923	+	Missense_Mutation	SNP	T	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:95080923T>A	uc001ydp.3	+	1	304	c.145T>A	c.(145-147)Tta>Ata	p.L49I	SERPINA3_uc001ydo.4_Missense_Mutation_p.L74I|SERPINA3_uc010avf.1_Non-coding_Transcript|SERPINA3_uc001ydr.3_Non-coding_Transcript|SERPINA3_uc021sbb.1_Non-coding_Transcript|SERPINA3_uc010avg.3_Missense_Mutation_p.L49I|SERPINA3_uc001yds.3_Missense_Mutation_p.L49I	NM_001085	NP_001076	P01011	AACT_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3 (SERPINA3), mRNA.	49					acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity	p.G48R(1)|p.G48*(1)		NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		GGACCTCGGATTAGCCTCCGC	0.562000														87			10		0	0	1	0	0
KAT5	10524	broad.mit.edu	37	11	65481966	65481966	+	Splice_Site	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:65481966G>T	uc001ofi.3	+	8	858	c.592_splice	c.e8-1	p.D198_splice	KAT5_uc001ofj.3_Splice_Site_p.D146_splice|KAT5_uc001ofk.3_Splice_Site_p.D231_splice|KAT5_uc010roo.2_Splice_Site_p.D179_splice|KAT5_uc001ofl.3_Splice_Site	NM_006388	NP_006379	Q92993	KAT5_HUMAN	Homo sapiens K(lysine) acetyltransferase 5 (KAT5), transcript variant 2, mRNA.	198					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|androgen receptor signaling pathway|double-strand break repair|interspecies interaction between organisms|negative regulation of interleukin-2 production|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|Piccolo NuA4 histone acetyltransferase complex|nucleolus|perinuclear region of cytoplasm	androgen receptor binding|histone acetyltransferase activity|metal ion binding|repressing transcription factor binding|transcription coactivator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)	21						CCCTGGGCAGGACTCCCAGGA	0.552000														17			15		2.32078e-09	2.76369e-09	1	1	0
C2orf71	388939	broad.mit.edu	37	2	29293713	29293713	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:29293713T>C	uc002rmt.2	-	0	3415	c.3415A>G	c.(3415-3417)Aca>Gca	p.T1139A		NM_001029883	NP_001025054	A6NGG8	CB071_HUMAN	Homo sapiens chromosome 2 open reading frame 71 (C2orf71), mRNA.	1139					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						GGGTGGGCTGTTGAGAGTGGC	0.577000														29			17		0	0	1	0	0
SEZ6	124925	broad.mit.edu	37	17	27284489	27284489	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:27284489C>T	uc002hdp.2	-	11	2565	c.2371G>A	c.(2371-2373)Gtg>Atg	p.V791M	SEZ6_uc002hdm.2_Non-coding_Transcript|SEZ6_uc010cry.1_Missense_Mutation_p.V791M|SEZ6_uc002hdq.1_Missense_Mutation_p.V666M	NM_178860	NP_849191	Q53EL9	SEZ6_HUMAN	Homo sapiens seizure related 6 homolog (mouse) (SEZ6), transcript variant 1, mRNA.	791	Sushi 4.					integral to membrane|plasma membrane		p.P790P(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			GTGGCCCCCACGGGAAACTTG	0.597000														54			8		0	0	1	0	0
GRIA3	2892	broad.mit.edu	37	X	122536867	122536867	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:122536867G>A	uc004etq.4	+	7	1395	c.1103G>A	c.(1102-1104)gGa>gAa	p.G368E	GRIA3_uc004etr.4_Missense_Mutation_p.G368E|GRIA3_uc004ets.4_Non-coding_Transcript|GRIA3_uc011muf.1_Missense_Mutation_p.G352E	NM_007325	NP_015564	P42263	GRIA3_HUMAN	Homo sapiens glutamate receptor, ionotrophic, AMPA 3 (GRIA3), transcript variant 1, mRNA.	368					glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	GGAATGACTGGAAATATTCAA	0.373000														178			85		0	0	1	0	0
DNASE1	1773	broad.mit.edu	37	16	3706173	3706173	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:3706173C>A	uc002cvr.3	+	3	2414	c.307C>A	c.(307-309)Ctg>Atg	p.L103M		NM_005223	NP_005214	P24855	DNAS1_HUMAN	Homo sapiens deoxyribonuclease I (DNASE1), mRNA.	103					DNA catabolic process|apoptosis	extracellular region|nuclear envelope	actin binding|deoxyribonuclease I activity			lung(1)	1		Ovarian(90;0.0261)		Kidney(780;0.0556)	Dornase Alfa(DB00003)	GGAGCGCTACCTGTTCGTGTA	0.542000														22			13		4.3838e-07	5.01911e-07	1	1	0
DLX2	1746	broad.mit.edu	37	2	172965582	172965582	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:172965582C>T	uc002uhn.3	-	2	888	c.676G>A	c.(676-678)Gct>Act	p.A226T		NM_004405	NP_004396	Q07687	DLX2_HUMAN	Homo sapiens distal-less homeobox 2 (DLX2), mRNA.	226						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.216)			GGTGGAGAAGCGCTGGCCCCA	0.637000														12			9		0	0	1	0	0
RPL36	25873	broad.mit.edu	37	19	5691360	5691360	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:5691360G>A	uc002mcv.3	+	2	193	c.124G>A	c.(124-126)Gac>Aac	p.D42N	RPL36_uc002mcw.3_Missense_Mutation_p.D42N	NM_033643	NP_378669	Q9Y3U8	RL36_HUMAN	Homo sapiens ribosomal protein L36 (RPL36), transcript variant 1, mRNA.	42					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|structural constituent of ribosome			breast(1)|upper_aerodigestive_tract(1)	2						GTTCGTGCGGGACATGATTCG	0.577000											OREG0025183	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		53			24		0	0	1	0	0
SLC14A2	8170	broad.mit.edu	37	18	43217042	43217042	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:43217042G>A	uc002lbe.3	+	5	1554	c.738G>A	c.(736-738)ttG>ttA	p.L246L	SLC14A2_uc002lbb.3_Silent_p.L246L|SLC14A2_uc010dnj.3_Silent_p.L246L	NM_007163	NP_009094	Q15849	UT2_HUMAN	Homo sapiens solute carrier family 14 (urea transporter), member 2 (SLC14A2), transcript variant 1, mRNA.	246						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CAGTCACCTTGTACCTTGCAG	0.512000														155			15		0	0	1	0	0
HBBP1	3044	broad.mit.edu	37	11	5264463	5264463	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:5264463G>A	uc001mag.3	-	1	239	c.23C>T	c.(22-24)gCa>gTa	p.A8V						Homo sapiens hemoglobin, beta pseudogene 1 (HBBP1), non-coding RNA.																		CTTGCCATGTGCCTTGACTTT	0.488000														14			10		0	0	1	0	0
MAGEA5	4104	broad.mit.edu	37	X	151284076	151284076	+	Splice_Site	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:151284076G>A	uc004ffj.3	-	3	108	c.-64_splice	c.e3-1		MAGEA5_uc022cgy.1_Splice_Site	NM_021049	NP_066387	P43359	MAGA5_HUMAN	Homo sapiens melanoma antigen family A, 5 (MAGEA5), mRNA.											endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6	Acute lymphoblastic leukemia(192;6.56e-05)					AGACCCACTGGCCTGGAGAGA	0.542000														57			33		0	0	1	0	0
DDX6	1656	broad.mit.edu	37	11	118630663	118630663	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:118630663C>T	uc001pub.2	-	7	1193	c.832G>A	c.(832-834)Gct>Act	p.A278T	DDX6_uc001pua.2_5'Flank|DDX6_uc001puc.2_Missense_Mutation_p.A278T	NM_004397	NP_004388	P26196	DDX6_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 6 (DDX6), mRNA.	278	Helicase ATP-binding.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	RNA-induced silencing complex|cytoplasmic mRNA processing body|cytosol|stress granule	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|protein binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	13	all_hematologic(175;0.0839)	Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103)		OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377)		GGGAAAGTAGCGGAATATAGT	0.383000			T	IGH@	B-NHL									24			18		0	0	1	0	0
UNC5CL	222643	broad.mit.edu	37	6	41000828	41000828	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:41000828C>T	uc003opi.3	-	3	843	c.744G>A	c.(742-744)caG>caA	p.Q248Q		NM_173561	NP_775832	Q8IV45	UN5CL_HUMAN	Homo sapiens unc-5 homolog C (C. elegans)-like (UNC5CL), mRNA.	248	Interaction with RELA and NFKB1.				signal transduction	cytoplasm|integral to membrane				endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					ATACGGCCAGCTGCAGCCATT	0.622000														9			5		0	0	1	0	0
ATP2A3	489	broad.mit.edu	37	17	3844783	3844783	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:3844783G>A	uc002fwy.2	-	12	1884	c.1711C>T	c.(1711-1713)Cca>Tca	p.P571S	ATP2A3_uc002fwz.2_Missense_Mutation_p.P571S|ATP2A3_uc002fxa.2_Missense_Mutation_p.P571S|ATP2A3_uc002fxb.2_Missense_Mutation_p.P571S|ATP2A3_uc002fxc.2_Missense_Mutation_p.P571S|ATP2A3_uc002fxd.2_Missense_Mutation_p.P571S|ATP2A3_uc002fwx.2_Missense_Mutation_p.P571S	NM_174953	NP_777613	Q93084	AT2A3_HUMAN	Homo sapiens ATPase, Ca++ transporting, ubiquitous (ATP2A3), transcript variant 5, mRNA.	571					ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		TCCTTCCTTGGGGGCGCGTCC	0.647000														48			30		0	0	1	0	0
KIAA1407	57577	broad.mit.edu	37	3	113697048	113697048	+	Missense_Mutation	SNP	G	A	A	rs145062166	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:113697048G>A	uc003eax.3	-	15	2738	c.2591C>T	c.(2590-2592)gCg>gTg	p.A864V	KIAA1407_uc011bin.1_Non-coding_Transcript	NM_020817	NP_065868	Q8NCU4	K1407_HUMAN	Homo sapiens KIAA1407 (KIAA1407), mRNA.	864										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						ACTGTGCTCCGCTGCAATCTC	0.423000														56			30		0	0	1	0	0
RAB11FIP5	26056	broad.mit.edu	37	2	73316022	73316022	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:73316022G>A	uc002siu.4	-	1	1094	c.853C>T	c.(853-855)Ctg>Ttg	p.L285L	RAB11FIP5_uc002sit.4_Silent_p.L207L	NM_015470	NP_056285	Q9BXF6	RFIP5_HUMAN	Homo sapiens RAB11 family interacting protein 5 (class I) (RAB11FIP5), mRNA.	285					protein transport	mitochondrial outer membrane|recycling endosome membrane	gamma-tubulin binding			biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						TCAGTGGACAGCCAGCTGCTA	0.687000														14			6		0	0	1	0	0
ZNHIT6	54680	broad.mit.edu	37	1	86172138	86172138	+	Nonsense_Mutation	SNP	G	A	A	rs140637481		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:86172138G>A	uc001dlh.3	-	1	858	c.709C>T	c.(709-711)Cga>Tga	p.R237*	ZNHIT6_uc010osc.2_Nonsense_Mutation_p.R198*	NM_017953	NP_060423	Q9NWK9	BCD1_HUMAN	Homo sapiens zinc finger, HIT-type containing 6 (ZNHIT6), transcript variant 1, mRNA.	237					box C/D snoRNP assembly|ribosome biogenesis	pre-snoRNP complex	identical protein binding|metal ion binding			autonomic_ganglia(1)|breast(2)|cervix(2)|large_intestine(10)|lung(1)|urinary_tract(1)	17						CAGGAATATCGCATACAACGT	0.348000														113			39		0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135427530	135427530	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:135427530G>T	uc004ezu.1	+	5	1956	c.1665G>T	c.(1663-1665)aaG>aaT	p.K555N	GPR112_uc010nsb.1_Missense_Mutation_p.K350N|GPR112_uc010nsc.1_Missense_Mutation_p.K322N	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	555					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CCTCCTCTAAGACCTTTTCTT	0.408000														46			25		4.72057e-08	5.50067e-08	1	1	0
CEP170	9859	broad.mit.edu	37	1	243327874	243327874	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:243327874T>C	uc021plo.1	-	12	3796	c.3388A>G	c.(3388-3390)Aca>Gca	p.T1130A	CEP170_uc021plp.1_Missense_Mutation_p.T1032A|CEP170_uc021plq.1_Missense_Mutation_p.T1032A|CEP170_uc001hzv.1_Missense_Mutation_p.T508A	NM_014812	NP_055627	Q5SW79	CE170_HUMAN	Homo sapiens centrosomal protein 170kDa (CEP170), transcript variant alpha, mRNA.	1130	Targeting to centrosomes.|Targeting to microtubules.					centriole|microtubule|spindle				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			GAACTTGTTGTGGATACTTCA	0.488000														27			4		0	0	1	0	0
TBC1D17	79735	broad.mit.edu	37	19	50386140	50386140	+	Silent	SNP	C	A	A	rs146598967	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:50386140C>A	uc002pqo.3	+	7	1217	c.918C>A	c.(916-918)atC>atA	p.I306I	TBC1D17_uc010enn.2_Non-coding_Transcript|TBC1D17_uc010ybg.2_Silent_p.I273I|TBC1D17_uc002pqp.3_5'UTR|TBC1D17_uc002pqr.3_5'UTR	NM_024682	NP_078958	Q9HA65	TBC17_HUMAN	Homo sapiens TBC1 domain family, member 17 (TBC1D17), transcript variant 1, mRNA.	306						intracellular	Rab GTPase activator activity			NS(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15		all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017)		AGAACCGGATCTTCTCGGGGG	0.667000														34			10		9.70103e-10	1.16071e-09	1	1	0
MTMR2	8898	broad.mit.edu	37	11	95591744	95591744	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:95591744G>T	uc001pfu.3	-	5	774	c.521C>A	c.(520-522)tCc>tAc	p.S174Y	MTMR2_uc001pfv.3_Missense_Mutation_p.S102Y|MTMR2_uc001pfs.3_Missense_Mutation_p.S102Y|MTMR2_uc001pft.3_Missense_Mutation_p.S102Y|MTMR2_uc010ruj.1_Missense_Mutation_p.S157Y	NM_016156	NP_958438	Q13614	MTMR2_HUMAN	Homo sapiens myotubularin related protein 2 (MTMR2), transcript variant 1, mRNA.	174						nucleus	inositol or phosphatidylinositol phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	19		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CTCAAATATGGATCTTCTTGT	0.323000														74			60		3.58576e-35	4.75272e-35	1	1	0
SOWAHA	134548	broad.mit.edu	37	5	132150665	132150665	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:132150665C>T	uc003kxw.3	+	0	1633	c.1352C>T	c.(1351-1353)gCg>gTg	p.A451V		NM_175873	NP_787069	Q2M3V2	ANR43_HUMAN	Homo sapiens sosondowah ankyrin repeat domain family member A (SOWAHA), mRNA.	451																	GAGCCAGATGCGACCGGTGGT	0.687000														1			4		0	0	1	0	0
IGHMBP2	3508	broad.mit.edu	37	11	68705683	68705683	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:68705683A>G	uc001ook.1	+	13	2747	c.2645A>G	c.(2644-2646)gAc>gGc	p.D882G	IGHMBP2_uc001ool.1_Missense_Mutation_p.D506G	NM_002180	NP_002171	P38935	SMBP2_HUMAN	Homo sapiens immunoglobulin mu binding protein 2 (IGHMBP2), mRNA.	882					DNA recombination|DNA repair|DNA replication|cell death|protein homooligomerization|transcription, DNA-dependent|translation	axon|growth cone|nucleus|ribonucleoprotein complex	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|tRNA binding|transcription factor binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			ACGGAGGAGGACTTTGAGGCC	0.582000														60			21		0	0	1	0	0
MFF	56947	broad.mit.edu	37	2	228205057	228205057	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:228205057C>T	uc002vos.3	+	5	891	c.479C>T	c.(478-480)gCt>gTt	p.A160V	MFF_uc002vot.3_Missense_Mutation_p.A134V|MFF_uc002vow.3_Missense_Mutation_p.A134V|MFF_uc002voy.3_Missense_Mutation_p.A160V|MFF_uc021vxu.1_Missense_Mutation_p.A134V|MFF_uc002voz.3_Missense_Mutation_p.A134V	NM_020194	NP_064579	Q9GZY8	MFF_HUMAN	Homo sapiens mitochondrial fission factor (MFF), nuclear gene encoding mitochondrial protein, mRNA.	160						integral to membrane|mitochondrial outer membrane				breast(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(4)|stomach(2)	21						AGTGAAAATGCTGTTCGCCAA	0.403000														22			11		0	0	1	0	0
CCDC129	223075	broad.mit.edu	37	7	31682533	31682533	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:31682533C>A	uc011kae.2	+	10	1639	c.1627C>A	c.(1627-1629)Ctg>Atg	p.L543M	CCDC129_uc011kad.1_Missense_Mutation_p.L527M|CCDC129_uc003tcj.1_Missense_Mutation_p.L517M|CCDC129_uc003tci.1_Missense_Mutation_p.L368M|CCDC129_uc003tck.1_Missense_Mutation_p.L425M	NM_194300	NP_919276	Q6ZRS4	CC129_HUMAN	Homo sapiens coiled-coil domain containing 129 (CCDC129), mRNA.	517										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						GCCACCAGAGCTGTATATCCC	0.542000														70			100		4.91162e-27	6.44842e-27	1	1	0
GJA1	2697	broad.mit.edu	37	6	121768220	121768220	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:121768220G>A	uc003pyr.3	+	1	477	c.227G>A	c.(226-228)cGc>cAc	p.R76H	GJA1_uc011ebo.1_5'UTR|GJA1_uc011ebp.1_5'UTR|GJA1_uc021zel.1_Missense_Mutation_p.R76H	NM_000165	NP_000156	P17302	CXA1_HUMAN	Homo sapiens gap junction protein, alpha 1, 43kDa (GJA1), mRNA.	76			R -> H (in HSS; overlapping features with oculodentodigital dysplasia).|R -> S (in ODDD).		cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi-associated vesicle membrane|connexon complex|integral to plasma membrane|membrane raft	ion transmembrane transporter activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2)	33				GBM - Glioblastoma multiforme(226;0.00252)	Carvedilol(DB01136)	TCTCATGTGCGCTTCTGGGTC	0.463000														26			22		0	0	1	0	0
SFI1	9814	broad.mit.edu	37	22	31976257	31976257	+	Splice_Site	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:31976257G>A	uc003ale.3	+	12	1549	c.1156_splice	c.e12-1	p.Y386_splice	SFI1_uc003ald.1_Splice_Site_p.Y362_splice|SFI1_uc003alf.3_Intron|SFI1_uc003alg.3_Splice_Site_p.Y304_splice|SFI1_uc011alp.2_Splice_Site_p.Y304_splice|SFI1_uc011alq.2_Intron|SFI1_uc003alh.3_Splice_Site|SFI1_uc010gwi.3_Splice_Site	NM_001007467	NP_001007468	A8K8P3	SFI1_HUMAN	Homo sapiens Sfi1 homolog, spindle assembly associated (yeast) (SFI1), transcript variant 1, mRNA.	386					G2/M transition of mitotic cell cycle	centriole|cytosol				NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						TCTTTGCACAGTATTTTTGCT	0.468000														15			13		0	0	1	0	0
SPEN	23013	broad.mit.edu	37	1	16260841	16260841	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:16260841G>A	uc001axk.1	+	10	8310	c.8106G>A	c.(8104-8106)ggG>ggA	p.G2702G	SPEN_uc010obp.1_Silent_p.G2661G	NM_015001	NP_055816	Q96T58	MINT_HUMAN	Homo sapiens spen homolog, transcriptional regulator (Drosophila) (SPEN), mRNA.	2702	RID.				Notch signaling pathway|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding|protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TTCTTACGGGGCCAGTGAATG	0.592000														36			16		0	0	1	0	0
ZNF318	24149	broad.mit.edu	37	6	43325153	43325153	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:43325153C>T	uc003oux.3	-	2	977	c.899G>A	c.(898-900)cGa>cAa	p.R300Q	ZNF318_uc003ouw.3_Non-coding_Transcript	NM_014345	NP_055160	Q5VUA4	ZN318_HUMAN	Homo sapiens zinc finger protein 318 (ZNF318), mRNA.	300					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			TCTACGCTGTCGATAGTTGCG	0.517000														37			23		0	0	1	0	0
TG	7038	broad.mit.edu	37	8	133935689	133935689	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:133935689C>T	uc003ytw.3	+	21	4676	c.4635C>T	c.(4633-4635)gaC>gaT	p.D1545D	TG_uc010mdw.3_Silent_p.D304D|TG_uc011ljb.2_5'UTR|TG_uc003ytx.1_Intron	NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	1545	Thyroglobulin type-1 11.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	p.D1545D(2)		NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		TCTGTGTGGACGGCGAGGGGC	0.592000														42			23		0	0	1	0	0
TAOK2	9344	broad.mit.edu	37	16	29989110	29989110	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:29989110G>A	uc010bzm.2	+	0	52	c.17G>A	c.(16-18)cGg>cAg	p.R6Q	BOLA2_uc010bzb.1_Intron|TAOK2_uc002dvb.2_Missense_Mutation_p.R6Q|TAOK2_uc021tgf.1_Missense_Mutation_p.R6Q|TAOK2_uc002dva.2_Missense_Mutation_p.R6Q|TAOK2_uc002dvc.2_Missense_Mutation_p.R6Q|TAOK2_uc002dvd.2_5'Flank	NM_016151	NP_057235	Q9UL54	TAOK2_HUMAN	Homo sapiens TAO kinase 2 (TAOK2), transcript variant 1, mRNA.	6					actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						GCTGGGGGCCGGGCCGGGAGC	0.602000														23			3		0	0	1	0	0
ABCC8	6833	broad.mit.edu	37	11	17470208	17470208	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:17470208T>C	uc001mnc.3	-	7	1313	c.1187A>G	c.(1186-1188)tAc>tGc	p.Y396C	ABCC8_uc010rcy.1_Missense_Mutation_p.Y395C	NM_000352	NP_000343	Q09428	ABCC8_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 8 (ABCC8), mRNA.	396	ABC transmembrane type-1 1.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity	p.I395V(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	AATTTTATTGTAAATCTTGGT	0.458000														71			56		0	0	1	0	0
FAT2	2196	broad.mit.edu	37	5	150900894	150900894	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:150900894C>T	uc003lue.4	-	17	11273	c.11260G>A	c.(11260-11262)Gcc>Acc	p.A3754T	FAT2_uc003lud.4_Missense_Mutation_p.A447T	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	3754					epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTGAGCCTGGCGGTGCTGTAC	0.612000														21			20		0	0	1	0	0
TEP1	7011	broad.mit.edu	37	14	20845812	20845812	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:20845812C>T	uc001vxe.3	-	39	5862	c.5822G>A	c.(5821-5823)cGg>cAg	p.R1941Q	TEP1_uc010ahk.3_Missense_Mutation_p.R1284Q|TEP1_uc010tlf.1_Non-coding_Transcript|TEP1_uc010tlg.1_Missense_Mutation_p.R1833Q|TEP1_uc010tlh.1_Missense_Mutation_p.R279Q	NM_007110	NP_009041	Q99973	TEP1_HUMAN	Homo sapiens telomerase-associated protein 1 (TEP1), mRNA.	1941					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		AACAGCCACCCGATCACCATC	0.552000														71			47		0	0	1	0	0
CBLN3	643866	broad.mit.edu	37	14	24897112	24897112	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:24897112G>A	uc001wpg.4	-	2	972	c.501C>T	c.(499-501)agC>agT	p.S167S	KHNYN_uc010tpc.2_5'Flank|KHNYN_uc001wph.4_5'Flank|KHNYN_uc010alw.3_5'Flank	NM_001039771	NP_001034860	Q6UW01	CBLN3_HUMAN	Homo sapiens cerebellin 3 precursor (CBLN3), mRNA.	167	C1q.|Necessary for interaction with CBLN3, and homotrimerization (By similarity).					cell junction|extracellular region|synapse				central_nervous_system(1)|lung(3)	4				GBM - Glioblastoma multiforme(265;0.00159)		GTAGCACAGAGCTGGTGGCTG	0.602000														56			44		0	0	1	0	0
PKDREJ	10343	broad.mit.edu	37	22	46652821	46652821	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:46652821G>T	uc003bhh.3	-	0	6399	c.6399C>A	c.(6397-6399)gtC>gtA	p.V2133V		NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN	Homo sapiens polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin) (PKDREJ), mRNA.	2133					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		GGAAAGCTGAGACACAATAGG	0.413000														34			16		6.94344e-10	8.32448e-10	1	1	0
HCP5	10866	broad.mit.edu	37	6	31431688	31431688	+	RNA	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31431688C>A	uc003ntl.3	+	1		c.641C>A			HCP5_uc021yup.1_Non-coding_Transcript			Q6MZN7	HCP5_HUMAN	Homo sapiens HLA complex P5 (non-protein coding) (HCP5), non-coding RNA.						defense response					urinary_tract(1)	1						atgcctcctcctggggatcag	0.582000														48			40		6.5261e-18	8.34501e-18	1	1	0
USH2A	7399	broad.mit.edu	37	1	216166438	216166438	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:216166438G>A	uc001hku.1	-	34	7116	c.6729C>T	c.(6727-6729)ggC>ggT	p.G2243G		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	2243	Fibronectin type-III 9.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.G2243G(2)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GGGCTGGCACGCCTTCGGGTA	0.507000										HNSCC(13;0.011)	OREG0014251	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		162			41		0	0	1	0	0
GRIK1	2897	broad.mit.edu	37	21	31045367	31045367	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:31045367T>C	uc002yno.1	-	3	1126	c.662A>G	c.(661-663)aAa>aGa	p.K221R	GRIK1_uc002ynn.3_Missense_Mutation_p.K221R|GRIK1_uc011acs.2_Missense_Mutation_p.K221R|GRIK1_uc011act.2_Missense_Mutation_p.K165R|GRIK1_uc010glq.1_Missense_Mutation_p.K79R|GRIK1_uc002ynr.3_Missense_Mutation_p.K221R	NM_000830	NP_000821	P39086	GRIK1_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 1 (GRIK1), transcript variant 1, mRNA.	221					central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	CTCCTTGCCTTTCTTCATCTC	0.448000														119			60		0	0	1	0	0
TAS1R2	80834	broad.mit.edu	37	1	19166109	19166109	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:19166109G>A	uc001bba.1	-	5	2505	c.2504C>T	c.(2503-2505)aCc>aTc	p.T835I		NM_152232	NP_689418	Q8TE23	TS1R2_HUMAN	Homo sapiens taste receptor, type 1, member 2 (TAS1R2), mRNA.	835					detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	CCTCCTCATGGTGTAGCCCTG	0.622000														13			6		0	0	1	0	0
RBBP6	5930	broad.mit.edu	37	16	24567681	24567681	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:24567681G>T	uc002dmh.3	+	6	1627	c.587G>T	c.(586-588)aGa>aTa	p.R196I	RBBP6_uc010vcb.1_Missense_Mutation_p.R63I|RBBP6_uc002dmi.3_Missense_Mutation_p.R196I|RBBP6_uc010bxr.3_Missense_Mutation_p.R196I|RBBP6_uc002dmk.3_Missense_Mutation_p.R63I	NM_006910	NP_008841	Q7Z6E9	RBBP6_HUMAN	Homo sapiens retinoblastoma binding protein 6 (RBBP6), transcript variant 1, mRNA.	196					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		GGAATTCCCAGAAGTTTCATG	0.368000														33			22		2.89027e-11	3.52362e-11	1	1	0
SLC46A2	57864	broad.mit.edu	37	9	115651934	115651934	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:115651934C>T	uc004bgk.3	-	0	1260	c.1028G>A	c.(1027-1029)cGc>cAc	p.R343H		NM_033051	NP_149040	Q9BY10	TSCOT_HUMAN	Homo sapiens solute carrier family 46, member 2 (SLC46A2), mRNA.	343						integral to membrane|plasma membrane	symporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(1)	18						CCGAAAGCAGCGGGAGAAGAC	0.527000														13			8		0	0	1	0	0
CCDC87	55231	broad.mit.edu	37	11	66359608	66359608	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:66359608G>T	uc001oiq.4	-	0	947	c.879C>A	c.(877-879)ccC>ccA	p.P293P	CCS_uc001oir.3_5'Flank	NM_018219	NP_060689	Q9NVE4	CCD87_HUMAN	Homo sapiens coiled-coil domain containing 87 (CCDC87), mRNA.	293										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						CCCTGCTGGTGGGGGCCACAG	0.607000														86			8		1.12685e-05	1.25391e-05	1	1	0
DNAJB5	25822	broad.mit.edu	37	9	34996478	34996478	+	Missense_Mutation	SNP	G	A	A	rs35837382		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:34996478G>A	uc011los.2	+	2	1005	c.644G>A	c.(643-645)cGt>cAt	p.R215H	DNAJB5_uc003zvs.3_Missense_Mutation_p.R177H|DNAJB5_uc003zvt.3_Missense_Mutation_p.R143H	NM_001135005	NP_036398	O75953	DNJB5_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 5 (DNAJB5), transcript variant 1, mRNA.	143					protein folding|response to unfolded protein		heat shock protein binding|unfolded protein binding			kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(32;0.00575)			GCTTTCGGCCGTTTTGGCTTC	0.602000														18			16		0	0	1	0	0
LUM	4060	broad.mit.edu	37	12	91502238	91502238	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:91502238C>A	uc001tbm.3	-	1	908	c.519G>T	c.(517-519)gaG>gaT	p.E173D		NM_002345	NP_002336	P51884	LUM_HUMAN	Homo sapiens lumican (LUM), mRNA.	173					collagen fibril organization|visual perception	extracellular space|fibrillar collagen	collagen binding|extracellular matrix structural constituent	p.E173K(1)|p.E173*(1)		central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						AAACAGCATCCTCTTTCAGCC	0.453000														94			12		0.000978159	0.00103832	1	1	0
C1QTNF5	114902	broad.mit.edu	37	11	119217195	119217195	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:119217195C>T	uc010rzg.1	-	0	189	c.29G>A	c.(28-30)tGc>tAc	p.C10Y	C1QTNF5_uc001pwj.2_5'UTR			Q9BY79	MFRP_HUMAN	Homo sapiens C1q and tumor necrosis factor related protein 5 (C1QTNF5), mRNA.	10					embryo development	integral to membrane				endometrium(1)|lung(2)	3		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		TGCCTCCATGCAGAGGATGAC	0.562000														47			21		0	0	1	0	0
PEX6	5190	broad.mit.edu	37	6	42936095	42936095	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:42936095G>A	uc003otf.3	-	6	1714	c.1621C>T	c.(1621-1623)Ctg>Ttg	p.L541L	PEX6_uc010jya.3_Non-coding_Transcript	NM_000287	NP_000278	Q13608	PEX6_HUMAN	Homo sapiens peroxisomal biogenesis factor 6 (PEX6), mRNA.	541					protein import into peroxisome matrix, translocation|protein stabilization	cytosol|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(3)	15			all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562)			TCCTCACCCAGCCCATCACGG	0.622000														27			18		0	0	1	0	0
PKD2L1	9033	broad.mit.edu	37	10	102054794	102054794	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:102054794G>A	uc001kqx.1	-	7	1826	c.1443C>T	c.(1441-1443)gcC>gcT	p.A481A	PKD2L1_uc009xwm.1_Silent_p.A434A	NM_016112	NP_057196	Q9P0L9	PK2L1_HUMAN	Homo sapiens polycystic kidney disease 2-like 1 (PKD2L1), transcript variant 1, mRNA.	481					signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding	p.A481A(2)		NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		AGAACATGACGGCGAAGCCCA	0.507000														50			35		0	0	1	0	0
LAMA1	284217	broad.mit.edu	37	18	6959355	6959355	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:6959355A>G	uc002knm.3	-	53	7857	c.7763T>C	c.(7762-7764)tTg>tCg	p.L2588S	LAMA1_uc002knk.3_5'Flank|LAMA1_uc002knl.3_Missense_Mutation_p.L41S|LAMA1_uc010wzj.2_Missense_Mutation_p.L2064S	NM_005559	NP_005550	P25391	LAMA1_HUMAN	Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	2588	Laminin G-like 3.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	p.L2588F(1)		NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ATTCCTGACCAAGGAGATGGA	0.582000														70			6		0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38946361	38946361	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:38946361C>T	uc002oit.3	+	15	1891	c.1761C>T	c.(1759-1761)tcC>tcT	p.S587S	RYR1_uc002oiu.3_Silent_p.S587S	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	587	B30.2/SPRY 1.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CCATCATCTCCCTCCTGGACA	0.572000														23			8		0	0	1	0	0
STAP2	55620	broad.mit.edu	37	19	4325454	4325454	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:4325454C>A	uc002mab.3	-	9	1109	c.918G>T	c.(916-918)caG>caT	p.Q306H	STAP2_uc002mac.3_Missense_Mutation_p.Q306H|STAP2_uc021unb.1_Missense_Mutation_p.Q306H|STAP2_uc021unc.1_Missense_Mutation_p.Q306H|STAP2_uc002mad.3_Missense_Mutation_p.Q199H	NM_001013841	NP_001013863	Q9UGK3	STAP2_HUMAN	Homo sapiens signal transducing adaptor family member 2 (STAP2), transcript variant 2, mRNA.	306	Pro-rich.					cytoplasm|nucleus	protein binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		AGTTCTCTTCCTGGTTCGGTA	0.612000														83			31		4.32679e-17	5.50406e-17	1	1	0
SUPV3L1	6832	broad.mit.edu	37	10	70968443	70968443	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:70968443C>T	uc001jpe.1	+	14	2068	c.2013C>T	c.(2011-2013)caC>caT	p.H671H	SUPV3L1_uc010qjd.1_Silent_p.H540H	NM_003171	NP_003162	Q8IYB8	SUV3_HUMAN	Homo sapiens suppressor of var1, 3-like 1 (S. cerevisiae) (SUPV3L1), mRNA.	671	Interaction with HBXIP, important for protein stability.				DNA duplex unwinding	mitochondrial nucleoid|nucleus	ATP binding|DNA binding|DNA helicase activity|RNA binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ATGGTGTGCACAATATCACTA	0.413000														68			26		0	0	1	0	0
MARCH10	162333	broad.mit.edu	37	17	60879033	60879033	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:60879033G>A	uc010dds.3	-	1	349	c.64C>T	c.(64-66)Cag>Tag	p.Q22*	MARCH10_uc010ddr.3_Nonsense_Mutation_p.Q22*|MARCH10_uc002jag.4_Nonsense_Mutation_p.Q22*|MARCH10_uc002jah.2_Nonsense_Mutation_p.Q22*	NM_152598	NP_689811	Q8NA82	MARHA_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 10 (MARCH10), transcript variant 1, mRNA.	22							ligase activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						ACCTTATGCTGCATGTCCCGC	0.438000														79			61		0	0	1	0	0
LEPRE1	64175	broad.mit.edu	37	1	43224949	43224949	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:43224949G>T	uc001chx.4	-	2	844	c.731C>A	c.(730-732)gCc>gAc	p.A244D	LEPRE1_uc001chw.2_Missense_Mutation_p.A244D|LEPRE1_uc001chv.2_Missense_Mutation_p.A244D	NM_001243246	NP_001230175	Q32P28	P3H1_HUMAN	Homo sapiens leucine proline-enriched proteoglycan (leprecan) 1 (LEPRE1), transcript variant 3, mRNA.	244					negative regulation of cell proliferation	endoplasmic reticulum|proteinaceous extracellular matrix	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			large_intestine(2)|lung(15)|ovary(5)|prostate(1)|urinary_tract(3)	26	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	TTCGCAGAGGGCACGGCACTC	0.577000														41			26		1.77063e-15	2.23094e-15	1	1	0
MTR	4548	broad.mit.edu	37	1	237001797	237001797	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:237001797C>T	uc001hyi.4	+	14	1836	c.1413C>T	c.(1411-1413)agC>agT	p.S471S	MTR_uc010pxw.2_Silent_p.S64S|MTR_uc010pxx.2_Silent_p.S471S|MTR_uc010pxy.2_Silent_p.S471S	NM_000254	NP_000245	Q99707	METH_HUMAN	Homo sapiens 5-methyltetrahydrofolate-homocysteine methyltransferase (MTR), mRNA.	471	Pterin-binding.				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	TTGTCAATAGCATTAGTCTGA	0.458000														99			40		0	0	1	0	0
TNFRSF1B	7133	broad.mit.edu	37	1	12248851	12248851	+	Splice_Site	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:12248851A>G	uc001att.3	+	2	168	c.79_splice	c.e2-2	p.V27_splice	TNFRSF1B_uc001atu.3_Intron|TNFRSF1B_uc009vnk.3_Splice_Site|MIR4632_uc021ogi.1_5'Flank	NM_001066	NP_001057	P20333	TNR1B_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 1B (TNFRSF1B), mRNA.	27					apoptosis	extracellular region|integral to membrane|membrane raft|plasma membrane	tumor necrosis factor receptor activity			central_nervous_system(1)|liver(1)|lung(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	Ovarian(185;0.249)	Lung NSC(185;8.72e-05)|all_lung(284;9.92e-05)|Renal(390;0.000147)|Colorectal(325;0.000584)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;5.52e-07)|COAD - Colon adenocarcinoma(227;0.000345)|BRCA - Breast invasive adenocarcinoma(304;0.000353)|Kidney(185;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00302)|STAD - Stomach adenocarcinoma(313;0.00815)|READ - Rectum adenocarcinoma(331;0.0284)	Etanercept(DB00005)|Infliximab(DB00065)	TCTTCCTTCCAGGTGGCATTT	0.617000														32			15		0	0	1	0	0
ABCC12	94160	broad.mit.edu	37	16	48130758	48130758	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:48130758G>A	uc002efc.1	-	21	3440	c.3094C>T	c.(3094-3096)Ctc>Ttc	p.L1032F	ABCC12_uc002eey.1_Non-coding_Transcript|ABCC12_uc002eez.1_Non-coding_Transcript|ABCC12_uc002efa.1_Non-coding_Transcript|ABCC12_uc002efb.1_Non-coding_Transcript|ABCC12_uc002efd.1_Non-coding_Transcript	NM_033226	NP_150229	Q96J65	MRP9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 12 (ABCC12), mRNA.	1032	ABC transmembrane type-1 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				ATGTTCATGAGGACATCCATT	0.458000														72			42		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141259299	141259299	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:141259299C>T	uc002tvj.1	-	54	9779	c.8807G>A	c.(8806-8808)aGt>aAt	p.S2936N		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	2936	EGF-like 6.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AGAACATCCACTGACTTTCTT	0.403000										TSP Lung(27;0.18)				82			8		0	0	1	0	0
ORC1	4998	broad.mit.edu	37	1	52847358	52847358	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:52847358G>T	uc001ctt.3	-	13	2320	c.2089C>A	c.(2089-2091)Cta>Ata	p.L697I	ORC1_uc010oni.2_Missense_Mutation_p.L692I|ORC1_uc001ctu.3_Missense_Mutation_p.L697I	NM_004153	NP_004144	Q13415	ORC1_HUMAN	Homo sapiens origin recognition complex, subunit 1 (ORC1), transcript variant 1, mRNA.	697	Necessary and sufficient for ORC complex assembly.				DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol|nuclear origin of replication recognition complex|nucleolus|nucleoplasm|plasma membrane	ATP binding|DNA binding|nucleoside-triphosphatase activity|protein binding			breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						AAGGCCTTTAGATGCTTGAGC	0.512000														35			22		2.21704e-12	2.7329e-12	1	1	0
ALLC	55821	broad.mit.edu	37	2	3750056	3750056	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:3750056G>A	uc010ewt.3	+	11	1240	c.1079G>A	c.(1078-1080)cGc>cAc	p.R360H	ALLC_uc002qyf.3_Missense_Mutation_p.R131H	NM_018436	NP_060906	Q8N6M5	ALLC_HUMAN	Homo sapiens allantoicase (ALLC), transcript variant 1, mRNA.	379							allantoicase activity			breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	30	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)		GGAGTGAGCCGCCTTCGGCTC	0.592000										HNSCC(21;0.051)				11			11		0	0	1	0	0
ZBTB7A	51341	broad.mit.edu	37	19	4054026	4054026	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:4054026C>T	uc002lzh.3	-	1	1280	c.1205G>A	c.(1204-1206)cGc>cAc	p.R402H	ZBTB7A_uc002lzi.3_Missense_Mutation_p.R402H	NM_015898	NP_056982	O95365	ZBT7A_HUMAN	Homo sapiens zinc finger and BTB domain containing 7A (ZBTB7A), mRNA.	402					cell differentiation|multicellular organismal development|transcription, DNA-dependent	nucleus	DNA binding|histone acetyltransferase binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.014)|STAD - Stomach adenocarcinoma(1328;0.18)		CGTGTGGGTGCGGATGTGTCG	0.657000														31			17		0	0	1	0	0
PDE1B	5153	broad.mit.edu	37	12	54966424	54966424	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:54966424G>A	uc001sgd.2	+	6	1027	c.634G>A	c.(634-636)Gag>Aag	p.E212K	PDE1B_uc010soz.2_Missense_Mutation_p.E75K|PDE1B_uc010spa.1_Missense_Mutation_p.E171K|PDE1B_uc001sge.3_Missense_Mutation_p.E192K|PDE1B_uc001sgf.3_Missense_Mutation_p.E75K|PDE1B_uc009znq.3_Missense_Mutation_p.E8K	NM_000924	NP_000915	Q01064	PDE1B_HUMAN	Homo sapiens phosphodiesterase 1B, calmodulin-dependent (PDE1B), transcript variant 1, mRNA.	212	Catalytic (By similarity).				activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation	cytosol|nucleus	3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31						GGATGCCTTGGAGACAGGCTA	0.498000														393			257		0	0	1	0	0
GRWD1	83743	broad.mit.edu	37	19	48956129	48956129	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:48956129C>T	uc002pjd.2	+	6	1421	c.1188C>T	c.(1186-1188)gcC>gcT	p.A396A	KCNJ14_uc002pje.1_5'Flank	NM_031485	NP_113673	Q9BQ67	GRWD1_HUMAN	Homo sapiens glutamate-rich WD repeat containing 1 (GRWD1), mRNA.	396						nucleolus				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|stomach(1)	19		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000206)|all cancers(93;0.000207)|Epithelial(262;0.0125)|GBM - Glioblastoma multiforme(486;0.0222)		ACGTGGAGGCCGACCCCGGAC	0.701000														23			9		0	0	1	0	0
CUL7	9820	broad.mit.edu	37	6	43011309	43011309	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:43011309C>T	uc003otq.3	-	16	3564	c.3232G>A	c.(3232-3234)Gct>Act	p.A1078T	CUL7_uc010jyg.3_Missense_Mutation_p.A357T|CUL7_uc011dvb.2_Missense_Mutation_p.A1162T|KLC4_uc003otr.1_Intron	NM_014780	NP_055595	Q14999	CUL7_HUMAN	Homo sapiens cullin 7 (CUL7), transcript variant 2, mRNA.	1078					interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			TTGAAGACAGCTTCCTGACAC	0.607000														12			5		0	0	1	0	0
PNLDC1	154197	broad.mit.edu	37	6	160237602	160237602	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:160237602C>T	uc003qsy.1	+	13	1127	c.1088C>T	c.(1087-1089)gCg>gTg	p.A363V	PNLDC1_uc003qsx.1_Missense_Mutation_p.A352V	NM_173516	NP_775787	Q8NA58	PNDC1_HUMAN	Homo sapiens poly(A)-specific ribonuclease (PARN)-like domain containing 1 (PNLDC1), mRNA.	352						integral to membrane|nucleus	nucleic acid binding	p.A352E(2)|p.A352V(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	31		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		CACGAAGCCGCGTATGATGCC	0.468000														54			31		0	0	1	0	0
PHC3	80012	broad.mit.edu	37	3	169820406	169820406	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:169820406G>A	uc003fgl.2	-	13	2728	c.2694C>T	c.(2692-2694)agC>agT	p.S898S	PHC3_uc010hws.1_Silent_p.S886S|PHC3_uc011bpq.1_3'UTR	NM_024947	NP_079223	Q8NDX5	PHC3_HUMAN	Homo sapiens polyhomeotic homolog 3 (Drosophila) (PHC3), mRNA.	886					multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			TTTCCCGCTCGCTCTGCCTGC	0.473000														50			28		0	0	1	0	0
FAT2	2196	broad.mit.edu	37	5	150917383	150917383	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:150917383G>A	uc003lue.4	-	10	9177	c.9164C>T	c.(9163-9165)gCg>gTg	p.A3055V		NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	3055	Cadherin 27.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	p.A3055A(1)		NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GAATTCATGCGCCCCAGGGCC	0.463000														35			27		0	0	1	0	0
WDR72	256764	broad.mit.edu	37	15	53907678	53907678	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:53907678A>C	uc002acj.2	-	14	2767	c.2725T>G	c.(2725-2727)Ttt>Gtt	p.F909V	WDR72_uc010bfi.1_Missense_Mutation_p.F909V	NM_182758	NP_877435	Q3MJ13	WDR72_HUMAN	Homo sapiens WD repeat domain 72 (WDR72), mRNA.	909										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		TTAACTAAAAATAGTCTGCTC	0.333000														24			20		0	0	1	0	0
ATP8A2	51761	broad.mit.edu	37	13	26112196	26112196	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:26112196C>T	uc001uqk.3	+	6	720	c.578C>T	c.(577-579)tCc>tTc	p.S193F	ATP8A2_uc010tdi.2_Missense_Mutation_p.S153F|ATP8A2_uc010tdj.2_Non-coding_Transcript|ATP8A2_uc001uql.1_Missense_Mutation_p.S153F	NM_016529	NP_057613	Q9NTI2	AT8A2_HUMAN	Homo sapiens ATPase, aminophospholipid transporter, class I, type 8A, member 2 (ATP8A2), mRNA.	153					ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		CTGCTGTCATCCAGGTTAGCT	0.493000														21			15		0	0	1	0	0
RPL7	6129	broad.mit.edu	37	8	74203795	74203795	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:74203795C>T	uc003xzg.3	-	4	552	c.530G>A	c.(529-531)cGa>cAa	p.R177Q		NM_000971	NP_000962	P18124	RL7_HUMAN	Homo sapiens ribosomal protein L7 (RPL7), mRNA.	177					endocrine pancreas development|rRNA processing|ribosomal large subunit biogenesis|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	DNA binding|mRNA binding|protein homodimerization activity|structural constituent of ribosome			breast(1)|kidney(1)|large_intestine(2)|lung(1)	5	Breast(64;0.0954)		Epithelial(68;0.0193)|all cancers(69;0.0766)|BRCA - Breast invasive adenocarcinoma(89;0.134)			ACCAAGAGATCGAGCAATCAA	0.388000														28			16		0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8331643	8331643	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:8331643C>T	uc003zkk.3	-	43	6216	c.5473G>A	c.(5473-5475)Ggc>Agc	p.G1825S	PTPRD_uc003zkp.3_Missense_Mutation_p.G1419S|PTPRD_uc003zkq.3_Missense_Mutation_p.G1418S|PTPRD_uc003zkr.3_Missense_Mutation_p.G1409S|PTPRD_uc003zks.3_Missense_Mutation_p.G1418S|PTPRD_uc022bdj.1_Missense_Mutation_p.G1415S	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	1825	Tyrosine-protein phosphatase 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.G1825R(3)|p.G1419R(1)|p.G1296R(1)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TGGACTTGGCCGATGAAGTCA	0.463000										TSP Lung(15;0.13)				126			6		0	0	1	0	0
HIP1R	9026	broad.mit.edu	37	12	123335813	123335813	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:123335813C>T	uc001udj.1	+	6	605	c.546C>T	c.(544-546)taC>taT	p.Y182Y	HIP1R_uc001udg.1_Silent_p.Y170Y|HIP1R_uc001udi.1_Silent_p.Y182Y	NM_003959	NP_003950	O75146	HIP1R_HUMAN	Homo sapiens huntingtin interacting protein 1 related (HIP1R), mRNA.	182					receptor-mediated endocytosis	clathrin coated vesicle membrane|coated pit|perinuclear region of cytoplasm	actin binding|phosphatidylinositol binding			breast(1)|endometrium(5)|kidney(6)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	26	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2)		TGTTTGATTACATGGATTGTG	0.527000														84			50		0	0	1	0	0
KCNA3	3738	broad.mit.edu	37	1	111216892	111216892	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:111216892G>A	uc001dzv.1	-	0	764	c.540C>T	c.(538-540)ttC>ttT	p.F180F		NM_002232	NP_002223	P22001	KCNA3_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 3 (KCNA3), mRNA.	180						voltage-gated potassium channel complex	delayed rectifier potassium channel activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCTCCTCGGAGAAAATGTCGA	0.657000														119			6		0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197326118	197326118	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:197326118C>A	uc001gtz.3	+	4	1355	c.1146C>A	c.(1144-1146)gtC>gtA	p.V382V	CRB1_uc010poz.2_Silent_p.V313V|CRB1_uc001gty.2_Silent_p.V382V|CRB1_uc009wza.3_Silent_p.V270V|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Silent_p.V382V|CRB1_uc010ppc.1_Non-coding_Transcript	NM_201253	NP_957705	P82279	CRUM1_HUMAN	Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA.	382	EGF-like 9.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						CAGGTTATGTCTGTATCTGTC	0.468000														62			10		2.80697e-09	3.3309e-09	1	1	0
TNPO2	30000	broad.mit.edu	37	19	12822220	12822220	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:12822220C>T	uc002mup.3	-	9	1745	c.1283G>A	c.(1282-1284)cGc>cAc	p.R428H	TNPO2_uc002muq.3_Missense_Mutation_p.R336H|TNPO2_uc002muo.3_Missense_Mutation_p.R336H|TNPO2_uc002mur.3_Missense_Mutation_p.R336H	NM_013433	NP_038461	O14787	TNPO2_HUMAN	Homo sapiens transportin 2 (TNPO2), transcript variant 2, mRNA.	336					intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity	p.R336H(2)		autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CTTGTGGAAGCGTGGCTTGAT	0.617000														66			26		0	0	1	0	0
IGF2R	3482	broad.mit.edu	37	6	160468835	160468835	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:160468835C>T	uc003qta.3	+	16	2389	c.2241C>T	c.(2239-2241)aaC>aaT	p.N747N		NM_000876	NP_000867	P11717	MPRI_HUMAN	Homo sapiens insulin-like growth factor 2 receptor (IGF2R), mRNA.	747					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		AAGAGGATAACTCCACCTACA	0.537000														56			29		0	0	1	0	0
ADCY1	107	broad.mit.edu	37	7	45724577	45724577	+	Splice_Site	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:45724577G>A	uc003tne.4	+	12	2002	c.1984_splice	c.e12-1	p.C662_splice		NM_021116	NP_066939	Q08828	ADCY1_HUMAN	Homo sapiens adenylate cyclase 1 (brain) (ADCY1), mRNA.	662					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	TTCTTATTCAGTGTTTTCCAG	0.413000														130			13		0	0	1	0	0
ANKS1A	23294	broad.mit.edu	37	6	35051220	35051220	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:35051220C>T	uc003ojx.4	+	19	3076	c.2934C>T	c.(2932-2934)atC>atT	p.I978I	ANKS1A_uc011dst.2_Silent_p.I518I|ANKS1A_uc010jvp.2_Silent_p.I352I	NM_015245	NP_056060	Q92625	ANS1A_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 1A (ANKS1A), mRNA.	978	PID.					cytoplasm	protein binding			cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						TGAAGAAGATCCCCACCATCA	0.547000														37			14		0	0	1	0	0
PCDHB12	56124	broad.mit.edu	37	5	140589847	140589847	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140589847C>T	uc003liz.3	+	0	1557	c.1368C>T	c.(1366-1368)taC>taT	p.Y456Y	PCDHB12_uc011dak.2_Silent_p.Y119Y	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	Homo sapiens protocadherin beta 12 (PCDHB12), mRNA.	456	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAACTTCCTACGCCCTGTTCG	0.612000														34			32		0	0	1	0	0
FANCG	2189	broad.mit.edu	37	9	35076575	35076575	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:35076575C>T	uc003zwb.1	-	7	1422	c.930G>A	c.(928-930)ttG>ttA	p.L310L	FANCG_uc010mkj.1_Silent_p.L52L|FANCG_uc011lot.1_Silent_p.L310L	NM_004629	NP_004620	O15287	FANCG_HUMAN	Homo sapiens Fanconi anemia, complementation group G (FANCG), mRNA.	310					DNA repair|cell cycle checkpoint|mitochondrion organization	mitochondrion|nucleoplasm	damaged DNA binding|protein binding	p.L310F(2)		NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|stomach(1)	28			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			ATGGGACATTCAAGGCCTAAA	0.443000			"""Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks						50			27		0	0	1	0	0
CRB3	92359	broad.mit.edu	37	19	6466504	6466504	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:6466504G>A	uc002mez.3	+	3	380	c.184G>A	c.(184-186)Gtg>Atg	p.V62M	CRB3_uc002mey.3_Missense_Mutation_p.V62M|CRB3_uc002mfa.3_Missense_Mutation_p.V62M	NM_174881	NP_777377	Q9BUF7	CRUM3_HUMAN	Homo sapiens crumbs homolog 3 (Drosophila) (CRB3), transcript variant 3, mRNA.	62					protein localization in plasma membrane|tight junction assembly	apical plasma membrane|integral to membrane|tight junction	SH3 domain binding			endometrium(1)|large_intestine(1)|lung(1)	3						TGCTATCATCGTGGTCTTCTC	0.627000														167			22		0	0	1	0	0
LRP12	29967	broad.mit.edu	37	8	105503269	105503269	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:105503269G>A	uc003yma.3	-	6	2339	c.2212C>T	c.(2212-2214)Cgc>Tgc	p.R738C	LRP12_uc003ymb.3_Missense_Mutation_p.R719C|LRP12_uc003ylz.3_Missense_Mutation_p.R144C	NM_013437	NP_038465	Q9Y561	LRP12_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 12 (LRP12), transcript variant 1, mRNA.	738					endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CGTACCCAGCGTAGCCCCTGA	0.478000														46			21		0	0	1	0	0
ADAMTSL2	9719	broad.mit.edu	37	9	136412159	136412159	+	Splice_Site	SNP	G	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:136412159G>C	uc011mdl.2	+	9	1321	c.764_splice	c.e9-1	p.A255_splice	ADAMTSL2_uc004cei.3_Splice_Site_p.A255_splice	NM_001145320	NP_055509	Q86TH1	ATL2_HUMAN	Homo sapiens ADAMTS-like 2 (ADAMTSL2), transcript variant 2, mRNA.	255					negative regulation of transforming growth factor beta receptor signaling pathway	proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			kidney(2)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(145;9.31e-08)|Epithelial(140;6.62e-07)|all cancers(34;7.74e-06)		TGCCCTTCCAGCTCTTGCAGA	0.587000														126			63		0	0	1	0	0
COL27A1	85301	broad.mit.edu	37	9	116999977	116999977	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:116999977C>T	uc011lxl.2	+	18	2709	c.2709C>T	c.(2707-2709)ccC>ccT	p.P903P	COL27A1_uc004bii.3_Non-coding_Transcript	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN	Homo sapiens collagen, type XXVII, alpha 1 (COL27A1), mRNA.	903	Collagen-like 5.|Pro-rich.|Triple-helical region.				cell adhesion		extracellular matrix structural constituent	p.P903P(2)		central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						TTGGGTTTCCCGGGCCCCCTG	0.617000														23			24		0	0	1	0	0
BSN	8927	broad.mit.edu	37	3	49694787	49694787	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49694787C>T	uc003cxe.4	+	4	7912	c.7798C>T	c.(7798-7800)Cgg>Tgg	p.R2600W		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.	2600	Poly-Arg.				synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CCTCTTGAGTCGGCGACGCCG	0.642000														14			19		0	0	1	0	0
OSBP	5007	broad.mit.edu	37	11	59344074	59344074	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:59344074C>T	uc001noc.1	-	13	2880	c.2400G>A	c.(2398-2400)tgG>tgA	p.W800*		NM_002556	NP_002547	P22059	OSBP1_HUMAN	Homo sapiens oxysterol binding protein (OSBP), mRNA.	800					lipid transport	Golgi membrane	oxysterol binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		all_epithelial(135;0.000236)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		GGCATGAGCTCCAGTCCTGTT	0.453000														119			59		0	0	1	0	0
ECD	11319	broad.mit.edu	37	10	74914148	74914148	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:74914148T>C	uc009xqx.3	-	5	892	c.649A>G	c.(649-651)Att>Gtt	p.I217V	ECD_uc001jtn.3_Missense_Mutation_p.I217V|ECD_uc009xqy.3_Missense_Mutation_p.I217V|ECD_uc001jto.3_Intron	NM_001135752	NP_001129224	O95905	SGT1_HUMAN	Homo sapiens ecdysoneless homolog (Drosophila) (ECD), transcript variant 2, mRNA.	217					regulation of glycolysis|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	transcription coactivator activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(51;0.0119)					ACTGCCACAATGCCAGCTGGA	0.473000														24			10		0	0	1	0	0
MARK4	57787	broad.mit.edu	37	19	45781872	45781872	+	Splice_Site	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:45781872T>C	uc002pbb.2	+	10	1337	c.1006_splice	c.e10+1	p.E336_splice	MARK4_uc002paz.2_Intron|MARK4_uc002pba.2_Splice_Site_p.E336_splice|MARK4_uc002pbc.1_Splice_Site_p.E202_splice	NM_001199867	NP_001186796	Q96L34	MARK4_HUMAN	Homo sapiens MAP/microtubule affinity-regulating kinase 4 (MARK4), transcript variant 1, mRNA.	336	UBA.				microtubule bundle formation|nervous system development|positive regulation of programmed cell death	centrosome|neuron projection	ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding			NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		CCAAGAGAATTGGTGAGGGTC	0.532000														81			7		0	0	1	0	0
SETBP1	26040	broad.mit.edu	37	18	42532230	42532230	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:42532230C>A	uc010dni.3	+	3	3221	c.2925C>A	c.(2923-2925)acC>acA	p.T975T		NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	Homo sapiens SET binding protein 1 (SETBP1), transcript variant 1, mRNA.	975						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		GGAGTTACACCTTCTACCACG	0.468000									Schinzel-Giedion syndrome					55			34		4.31634e-10	5.19187e-10	1	1	0
IGFN1	91156	broad.mit.edu	37	1	201193940	201193940	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:201193940C>T	uc001gwc.3	+	20	10554	c.10424C>T	c.(10423-10425)aCt>aTt	p.T3475I	IGFN1_uc001gwb.3_Non-coding_Transcript	NM_001164586	NP_001158058			Homo sapiens immunoglobulin-like and fibronectin type III domain containing 1 (IGFN1), mRNA.											autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						GGTCTCTACACTGTGGTGCTG	0.597000														9			19		0	0	1	0	0
ATG7	10533	broad.mit.edu	37	3	11468278	11468278	+	Splice_Site	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:11468278G>A	uc003bwc.3	+	18	2074	c.1957_splice	c.e18-1	p.V653_splice	ATG7_uc003bwd.3_Splice_Site_p.V626_splice|ATG7_uc011aum.2_Intron	NM_006395	NP_006386	O95352	ATG7_HUMAN	Homo sapiens ATG7 autophagy related 7 homolog (S. cerevisiae) (ATG7), transcript variant 1, mRNA.	653					autophagy|cellular membrane fusion|positive regulation of protein modification process|protein lipidation|protein transport	cytoplasm	APG12 activating enzyme activity|protein homodimerization activity|ubiquitin activating enzyme activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	34						TGTTTTACAGGTTCTTGATCA	0.313000														27			14		0	0	1	0	0
SPAG5	10615	broad.mit.edu	37	17	26919664	26919664	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:26919664G>T	uc002hbq.3	-	2	690	c.598C>A	c.(598-600)Cat>Aat	p.H200N	SPAG5_uc010waq.1_Intron	NM_006461	NP_006452	Q96R06	SPAG5_HUMAN	Homo sapiens sperm associated antigen 5 (SPAG5), mRNA.	200					cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytoplasm|spindle pole	protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					TCTAAGAGATGGGACGGAGAT	0.498000														35			26		1.38267e-23	1.80263e-23	1	1	0
GABRG1	2565	broad.mit.edu	37	4	46067588	46067588	+	Missense_Mutation	SNP	T	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:46067588T>A	uc003gxb.3	-	3	487	c.335A>T	c.(334-336)gAt>gTt	p.D112V		NM_173536	NP_775807	Q8N1C3	GBRG1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 1 (GABRG1), mRNA.	112					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		AAAAATTATATCTATTGTATA	0.269000														6			13		0	0	1	0	0
OGDH	4967	broad.mit.edu	37	7	44739829	44739829	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:44739829C>T	uc003tln.3	+	18	2679	c.2520C>T	c.(2518-2520)caC>caT	p.H840H	OGDH_uc011kbx.2_Silent_p.H836H|OGDH_uc011kby.2_Silent_p.H690H|OGDH_uc003tlp.3_Silent_p.H851H|OGDH_uc011kbz.2_Silent_p.H635H	NM_002541	NP_002532	Q02218	ODO1_HUMAN	Homo sapiens oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide) (OGDH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	840					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					NADH(DB00157)	ACTTCTTCCACGTGCTACGAC	0.567000														99			8		0	0	1	0	0
MAGEB3	4114	broad.mit.edu	37	X	30255066	30255066	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:30255066G>A	uc022bug.1	+	0	1025	c.1025G>A	c.(1024-1026)aGc>aAc	p.S342N	MAGEB3_uc004dca.2_Missense_Mutation_p.S342N	NM_002365	NP_002356	O15480	MAGB3_HUMAN	Homo sapiens melanoma antigen family B, 3 (MAGEB3), mRNA.	342										NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	25						AAGGCTAGCAGCTCTTCCCAC	0.498000														14			7		0	0	1	0	0
CDC42BPB	9578	broad.mit.edu	37	14	103406241	103406241	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:103406241C>T	uc001ymi.1	-	32	4867	c.4635G>A	c.(4633-4635)aaG>aaA	p.K1545K		NM_006035	NP_006026	Q9Y5S2	MRCKB_HUMAN	Homo sapiens CDC42 binding protein kinase beta (DMPK-like) (CDC42BPB), mRNA.	1545					actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		GCAGCATCTGCTTCTTGCTGT	0.652000														163			8		0	0	1	0	0
SUPT5H	6829	broad.mit.edu	37	19	39948334	39948334	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:39948334G>T	uc002olo.4	+	3	440	c.261G>T	c.(259-261)gaG>gaT	p.E87D	SUPT5H_uc010xvb.1_Missense_Mutation_p.E87D|SUPT5H_uc002olp.4_Missense_Mutation_p.E87D|SUPT5H_uc002olq.4_Missense_Mutation_p.E87D|SUPT5H_uc002oln.4_Missense_Mutation_p.E87D|SUPT5H_uc002olr.4_Missense_Mutation_p.E87D	NM_001111020	NP_003160	O00267	SPT5H_HUMAN	Homo sapiens suppressor of Ty 5 homolog (S. cerevisiae) (SUPT5H), transcript variant 2, mRNA.	87	Glu-rich.				cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			ATGAGTATGAGGACGAGGACC	0.537000														76			7		0.000157383	0.000170012	1	1	0
MDC1	9656	broad.mit.edu	37	6	30672521	30672521	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:30672521C>A	uc003nrg.4	-	9	4879	c.4439G>T	c.(4438-4440)aGa>aTa	p.R1480I	MDC1_uc003nrf.4_Intron|MDC1_uc011dmp.1_Missense_Mutation_p.R1087I	NM_014641	NP_055456	Q14676	MDC1_HUMAN	Homo sapiens mediator of DNA-damage checkpoint 1 (MDC1), mRNA.	1480	Interaction with the PRKDC complex.				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						GACAGAGGATCTATCTGTTCT	0.587000								Other conserved DNA damage response genes						146			12		0.00185496	0.0019572	1	1	0
PTPDC1	138639	broad.mit.edu	37	9	96847695	96847695	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:96847695A>G	uc010mrj.2	+	1	509	c.407A>G	c.(406-408)tAc>tGc	p.Y136C	PTPDC1_uc004auf.2_Missense_Mutation_p.Y82C|PTPDC1_uc004aug.2_Missense_Mutation_p.Y82C|PTPDC1_uc004auh.2_Missense_Mutation_p.Y134C|PTPDC1_uc010mri.2_Missense_Mutation_p.Y134C	NM_001253829	NP_001240758	A2A3K4	PTPC1_HUMAN	Homo sapiens protein tyrosine phosphatase domain containing 1 (PTPDC1), transcript variant 3, mRNA.	82							protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						AAGGGGGTTTACTCATCCTGG	0.547000														29			17		0	0	1	0	0
TOPORS	10210	broad.mit.edu	37	9	32542146	32542146	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:32542146C>T	uc003zrb.3	-	2	2569	c.2377G>A	c.(2377-2379)Gga>Aga	p.G793R	TOPORS_uc003zrc.3_Missense_Mutation_p.G728R	NM_005802	NP_001182551	Q9NS56	TOPRS_HUMAN	Homo sapiens topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase (TOPORS), transcript variant 1, mRNA.	793	Interaction with TOP1.				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	PML body|nuclear speck	DNA binding|DNA topoisomerase I binding|SUMO ligase activity|antigen binding|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		CGTTTCCCTCCAGGCTTTTCA	0.453000														64			33		0	0	1	0	0
SEL1L	6400	broad.mit.edu	37	14	81970627	81970627	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:81970627G>A	uc010tvv.2	-	4	649	c.532C>T	c.(532-534)Cgg>Tgg	p.R178W	SEL1L_uc001xvo.4_Missense_Mutation_p.R178W	NM_005065	NP_005056	Q9UBV2	SE1L1_HUMAN	Homo sapiens sel-1 suppressor of lin-12-like (C. elegans) (SEL1L), transcript variant 1, mRNA.	178	Interaction with ERLEC1, OS9 and SYVN1.				Notch signaling pathway	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	28				BRCA - Breast invasive adenocarcinoma(234;0.0299)		TGCATCTGCCGTCTCTTAGCA	0.353000														86			6		0	0	1	0	0
SRSF7	6432	broad.mit.edu	37	2	38972324	38972324	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:38972324G>A	uc002rqz.3	-	7	906	c.668C>T	c.(667-669)tCc>tTc	p.S223F	SRSF7_uc010ynp.2_Missense_Mutation_p.S211F|SRSF7_uc002rra.3_Non-coding_Transcript	NM_001031684	NP_001026854	Q16629	SRSF7_HUMAN	Homo sapiens serine/arginine-rich splicing factor 7 (SRSF7), transcript variant 1, mRNA.	223	6 X 8 AA repeats of R-R-S-R-S-X-S-X.|Arg/Ser-rich (RS domain).				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	RNA binding|nucleotide binding|protein binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						TCCTGATGGGGAACGACTAAA	0.368000														58			37		0	0	1	0	0
NEO1	4756	broad.mit.edu	37	15	73541443	73541443	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:73541443C>T	uc002avm.4	+	9	1841	c.1649C>T	c.(1648-1650)gCt>gTt	p.A550V	NEO1_uc010ukx.2_Missense_Mutation_p.A550V|NEO1_uc010uky.2_Missense_Mutation_p.A550V|NEO1_uc002avn.4_Missense_Mutation_p.A570V|NEO1_uc010ukz.2_5'UTR	NM_002499	NP_002490	Q92859	NEO1_HUMAN	Homo sapiens neogenin 1 (NEO1), transcript variant 1, mRNA.	550	Fibronectin type-III 2.				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						GCATATGCAGCTTCGCCTACC	0.428000														66			39		0	0	1	0	0
ITPR3	3710	broad.mit.edu	37	6	33633685	33633685	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:33633685G>T	uc021ywr.1	+	13	1707	c.1483G>T	c.(1483-1485)Gac>Tac	p.D495Y		NM_002224	NP_002215	Q14573	ITPR3_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 3 (ITPR3), mRNA.	495					G-protein coupled receptor protein signaling pathway|activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						GAATGTCCTGGACATCATGGT	0.577000														21			3		0.004672	0.00486265	1	1	0
LAMC1	3915	broad.mit.edu	37	1	183087260	183087260	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:183087260C>T	uc001gpy.4	+	10	2226	c.1969C>T	c.(1969-1971)Cgt>Tgt	p.R657C		NM_002293	NP_002284	P11047	LAMC1_HUMAN	Homo sapiens laminin, gamma 1 (formerly LAMB2) (LAMC1), mRNA.	657	Laminin IV type A.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TATCAAGATACGTGGGACATA	0.383000														50			32		0	0	1	0	0
DDX10	1662	broad.mit.edu	37	11	108559743	108559743	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:108559743G>A	uc001pkm.3	+	6	994	c.929G>A	c.(928-930)aGc>aAc	p.S310N	DDX10_uc001pkl.1_Missense_Mutation_p.S310N	NM_004398	NP_004389	Q13206	DDX10_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 10 (DDX10), mRNA.	310	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity	p.R309I(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		TTTTTGAGAAGCCATCTGAAG	0.388000			T	NUP98	AML*									179			83		0	0	1	0	0
DSC3	1825	broad.mit.edu	37	18	28588261	28588261	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:28588261G>A	uc002kwj.4	-	9	1649	c.1494C>T	c.(1492-1494)ccC>ccT	p.P498P	DSC3_uc002kwi.4_Silent_p.P498P	NM_001941	NP_001932	Q14574	DSC3_HUMAN	Homo sapiens desmocollin 3 (DSC3), transcript variant Dsc3a, mRNA.	498	Cadherin 4.				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			TTCTATTTTCGGGGTCATATG	0.363000														25			20		0	0	1	0	0
CR1	1378	broad.mit.edu	37	1	207753865	207753865	+	Missense_Mutation	SNP	G	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:207753865G>C	uc001hfy.3	+	22	3913	c.3773G>C	c.(3772-3774)tGt>tCt	p.C1258S	CR1_uc009xcl.1_Missense_Mutation_p.C808S|CR1_uc001hfx.3_Missense_Mutation_p.C1708S|CR1_uc021pij.1_Missense_Mutation_p.C1258S	NM_000573	NP_000564	P17927	CR1_HUMAN	Homo sapiens complement component (3b/4b) receptor 1 (Knops blood group) (CR1), transcript variant F, mRNA.	1258	Sushi 20.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						GTGAAATCCTGTGATGACTTC	0.433000														134			65		0	0	1	0	0
ALDH6A1	4329	broad.mit.edu	37	14	74537970	74537970	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:74537970G>A	uc001xpo.3	-	5	757	c.658C>T	c.(658-660)Ctt>Ttt	p.L220F	C14orf45_uc001xpm.1_Intron|ALDH6A1_uc010tuq.2_Missense_Mutation_p.L207F|ALDH6A1_uc010asa.3_Missense_Mutation_p.L65F	NM_005589	NP_005580	Q02252	MMSA_HUMAN	Homo sapiens aldehyde dehydrogenase 6 family, member A1 (ALDH6A1), nuclear gene encoding mitochondrial protein, mRNA.	220						mitochondrial matrix|nucleus	fatty-acyl-CoA binding|malonate-semialdehyde dehydrogenase (acetylating) activity|methylmalonate-semialdehyde dehydrogenase (acylating) activity			NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(3)|skin(3)	21				BRCA - Breast invasive adenocarcinoma(234;0.00354)	NADH(DB00157)	TTAGCAAGAAGCATAGTTGCT	0.473000														52			6		0	0	1	0	0
SPON2	10417	broad.mit.edu	37	4	1164196	1164196	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:1164196C>T	uc003gco.4	-	4	1134	c.805G>A	c.(805-807)Gcc>Acc	p.A269T	SPON2_uc021xkj.1_Missense_Mutation_p.A269T|SPON2_uc010ibr.3_Missense_Mutation_p.A269T|SPON2_uc003gcm.1_3'UTR	NM_012445	NP_036577	Q9BUD6	SPON2_HUMAN	Homo sapiens spondin 2, extracellular matrix protein (SPON2), transcript variant 1, mRNA.	269					axon guidance|cell adhesion|innate immune response	proteinaceous extracellular matrix	metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|pancreas(1)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(23;0.00805)	UCEC - Uterine corpus endometrioid carcinoma (64;0.139)|Colorectal(103;0.19)		TTACCTGAGGCGCTGTCTACA	0.617000														105			48		0	0	1	0	0
FXR2	9513	broad.mit.edu	37	17	7504815	7504815	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7504815G>A	uc002gia.2	-	6	937	c.572C>T	c.(571-573)gCa>gTa	p.A191V		NM_004860	NP_004851	P51116	FXR2_HUMAN	Homo sapiens fragile X mental retardation, autosomal homolog 2 (FXR2), mRNA.	191						cytosolic large ribosomal subunit	RNA binding|protein binding	p.A191E(2)|p.R190L(1)|p.?(1)		NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26				READ - Rectum adenocarcinoma(115;0.17)		CAGCAGAGATGCTCGCTTCAC	0.493000														93			64		0	0	1	0	0
POU5F2	134187	broad.mit.edu	37	5	93076929	93076929	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:93076929G>A	uc003kkl.1	-	0	381	c.341C>T	c.(340-342)cCg>cTg	p.P114L	FAM172A_uc010jbd.3_Intron|FAM172A_uc011cuf.2_Intron|FAM172A_uc011cug.2_Intron|FAM172A_uc011cuh.2_Intron|FAM172A_uc011cui.2_Intron|FAM172A_uc011cuj.2_Intron	NM_153216	NP_694948	Q8N7G0	PO5F2_HUMAN	Homo sapiens POU domain class 5, transcription factor 2 (POU5F2), mRNA.	114						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity						all_cancers(142;3.87e-05)|all_epithelial(76;4.59e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0415)|all cancers(79;2.03e-19)		CTCTGGCGGCGGCAACTTCGG	0.627000														28			12		0	0	1	0	0
CHRNB1	1140	broad.mit.edu	37	17	7350450	7350450	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7350450C>T	uc002ghb.3	+	4	483	c.442C>T	c.(442-444)Cgc>Tgc	p.R148C	CHRNB1_uc010vty.2_Missense_Mutation_p.R76C|CHRNB1_uc010vtz.1_5'UTR	NM_000747	NP_000738	P11230	ACHB_HUMAN	Homo sapiens cholinergic receptor, nicotinic, beta 1 (muscle) (CHRNB1), mRNA.	148					behavioral response to nicotine|muscle contraction|muscle fiber development|neuromuscular synaptic transmission|postsynaptic membrane organization|regulation of membrane potential|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine binding|receptor activity			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(3)	23		Prostate(122;0.157)				GGGCATCTATCGCAGCAGCTG	0.572000														21			20		0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62287036	62287036	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:62287036A>G	uc001ntl.3	-	4	15153	c.14853T>C	c.(14851-14853)gcT>gcC	p.A4951A	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	4951					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CTAAGCTTGGAGCTTCAACTT	0.438000														93			46		0	0	1	0	0
DGCR8	54487	broad.mit.edu	37	22	20079041	20079041	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:20079041C>T	uc002zri.3	+	5	1819	c.1390C>T	c.(1390-1392)Cgg>Tgg	p.R464W	DGCR8_uc010grz.3_Missense_Mutation_p.R464W|DGCR8_uc002zrj.3_Missense_Mutation_p.R107W	NM_022720	NP_073557	Q8WYQ5	DGCR8_HUMAN	Homo sapiens DiGeorge syndrome critical region gene 8 (DGCR8), transcript variant 1, mRNA.	464	Necessary for heme-binding and pri-miRNA processing.				primary miRNA processing	cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding			NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					TTGGGCTGAGCGGCGGCAATT	0.488000														132			72		0	0	1	0	0
ZNF668	79759	broad.mit.edu	37	16	31072886	31072886	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:31072886G>T	uc021tgt.1	-	3	1788	c.1432C>A	c.(1432-1434)Cct>Act	p.P478T	ZNF668_uc010cag.2_Missense_Mutation_p.P455T|ZNF668_uc010caf.3_Missense_Mutation_p.P455T|ZNF668_uc002eao.3_Missense_Mutation_p.P455T	NM_001172669	NP_078982	Q96K58	ZN668_HUMAN	Homo sapiens zinc finger protein 668 (ZNF668), transcript variant 3, mRNA.	455					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						CCTGCTGGAGGGTCCCCCAGC	0.692000														62			9		0.000442599	0.000473562	1	1	0
TIAL1	7073	broad.mit.edu	37	10	121337189	121337189	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:121337189T>C	uc001lei.1	-	7	1180	c.616A>G	c.(616-618)Act>Gct	p.T206A	TIAL1_uc001leh.1_Missense_Mutation_p.T184A|TIAL1_uc001lej.1_Missense_Mutation_p.T223A|TIAL1_uc001lek.1_Missense_Mutation_p.T83A|TIAL1_uc010qtb.1_Missense_Mutation_p.T83A	NM_003252	NP_003243	Q01085	TIAR_HUMAN	Homo sapiens TIA1 cytotoxic granule-associated RNA binding protein-like 1 (TIAL1), transcript variant 1, mRNA.	206	RRM 3.				apoptosis|defense response|induction of apoptosis|regulation of transcription from RNA polymerase II promoter	lysosome|nucleus|stress granule	RNA binding|nucleotide binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(3)|ovary(1)	13		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.00239)|BRCA - Breast invasive adenocarcinoma(275;0.0932)		CAGTACACAGTACAATTTTTT	0.368000														71			50		0	0	1	0	0
PIBF1	10464	broad.mit.edu	37	13	73547757	73547757	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:73547757C>A	uc001vjc.3	+	15	2298	c.1993C>A	c.(1993-1995)Cta>Ata	p.L665I	PIBF1_uc001vjb.3_Missense_Mutation_p.L665I|PIBF1_uc010aep.3_Missense_Mutation_p.L124I	NM_006346	NP_006337	Q8WXW3	PIBF1_HUMAN	Homo sapiens progesterone immunomodulatory binding factor 1 (PIBF1), mRNA.	665						centrosome				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)		GBM - Glioblastoma multiforme(99;0.000664)		GTCAGCTTTACTACAGACGAA	0.254000														29			17		2.4624e-09	2.92908e-09	1	1	0
STK31	56164	broad.mit.edu	37	7	23775374	23775374	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:23775374G>T	uc003sws.4	+	6	768	c.701G>T	c.(700-702)aGg>aTg	p.R234M	STK31_uc003swt.4_Missense_Mutation_p.R211M|STK31_uc011jze.2_Missense_Mutation_p.R234M|STK31_uc010kuq.3_Missense_Mutation_p.R211M	NM_031414	NP_116562	Q9BXU1	STK31_HUMAN	Homo sapiens serine/threonine kinase 31 (STK31), transcript variant 1, mRNA.	234							ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						CTTGTTCTCAGGAACCTCAAA	0.453000														74			6		0.00116845	0.00123466	1	1	0
AQPEP	206338	broad.mit.edu	37	5	115329463	115329463	+	Missense_Mutation	SNP	A	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:115329463A>T	uc003kro.3	+	5	1450	c.1286A>T	c.(1285-1287)aAt>aTt	p.N429I	AQPEP_uc003krp.3_Non-coding_Transcript|AQPEP_uc003krs.3_5'Flank|AQPEP_uc003krq.3_5'Flank|AQPEP_uc003krr.3_5'Flank	NM_173800	NP_776161	Q6Q4G3	AMPQ_HUMAN	Homo sapiens laeverin (AQPEP), mRNA.	429					proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding										GTTACCATGAATTGGTGGAAC	0.303000														54			30		0	0	1	0	0
GABPB1	2553	broad.mit.edu	37	15	50595196	50595196	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:50595196C>A	uc001zyb.3	-	3	825	c.401G>T	c.(400-402)aGt>aTt	p.S134I	GABPB1_uc001zya.3_Missense_Mutation_p.S134I|GABPB1_uc010ufg.2_Missense_Mutation_p.S58I|GABPB1_uc001zyd.3_Missense_Mutation_p.S134I|GABPB1_uc001zye.3_Missense_Mutation_p.S134I|GABPB1_uc001zyf.3_Missense_Mutation_p.S134I|GABPB1_uc001zyc.3_Missense_Mutation_p.S134I	NM_005254	NP_005245	Q06547	GABP1_HUMAN	Homo sapiens GA binding protein transcription factor, beta subunit 1 (GABPB1), transcript variant beta-1, mRNA.	134					positive regulation of transcription from RNA polymerase II promoter	nucleus	protein binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			cervix(1)|endometrium(1)|large_intestine(7)|lung(5)	14						ACAAAATTTACTTTGCGTGTG	0.333000														60			7		0.00198382	0.00208369	1	1	0
EHHADH	1962	broad.mit.edu	37	3	184910836	184910836	+	Nonsense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:184910836G>T	uc003fpf.3	-	6	1426	c.1350C>A	c.(1348-1350)taC>taA	p.Y450*	EHHADH_uc011brs.2_Nonsense_Mutation_p.Y354*	NM_001966	NP_001957	Q08426	ECHP_HUMAN	Homo sapiens enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase (EHHADH), transcript variant 1, mRNA.	450	3-hydroxyacyl-CoA dehydrogenase.					peroxisome	3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity	p.Q449H(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)		NADH(DB00157)	TGGGGGAAGAGTATTGGCTGG	0.428000														62			14		1.36491e-13	1.70018e-13	1	1	0
GPR39	2863	broad.mit.edu	37	2	133174975	133174975	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:133174975C>T	uc002ttl.3	+	0	829	c.360C>T	c.(358-360)taC>taT	p.Y120Y		NM_001508	NP_001499	O43194	GPR39_HUMAN	Homo sapiens G protein-coupled receptor 39 (GPR39), mRNA.	120						integral to plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CCTGCAGCTACGCTACGCTGC	0.577000														18			15		0	0	1	0	0
SPATS2	65244	broad.mit.edu	37	12	49918607	49918607	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:49918607A>C	uc001rud.2	+	12	2243	c.1254A>C	c.(1252-1254)aaA>aaC	p.K418N	SPATS2_uc001rue.2_Non-coding_Transcript|SPATS2_uc009zli.1_Missense_Mutation_p.K418N|SPATS2_uc001ruf.2_Missense_Mutation_p.K418N	NM_023071	NP_075559	Q86XZ4	SPAS2_HUMAN	Homo sapiens spermatogenesis associated, serine-rich 2 (SPATS2), mRNA.	418						cytoplasm				breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(1)|prostate(1)|urinary_tract(4)	21						CTAACAAGAAAAACTTTGCAC	0.532000														38			30		0	0	1	0	0
TAS2R3	50831	broad.mit.edu	37	7	141464473	141464473	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:141464473G>T	uc003vwp.1	+	0	577	c.515G>T	c.(514-516)aGa>aTa	p.R172I		NM_016943	NP_058639	Q9NYW6	TA2R3_HUMAN	Homo sapiens taste receptor, type 2, member 3 (TAS2R3), mRNA.	172					sensory perception of taste		taste receptor activity	p.F171F(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)	14	Melanoma(164;0.0171)					GAACACTTCAGAAAGAAGAGG	0.458000														73			9		0.000274275	0.000294507	1	1	0
LTA4H	4048	broad.mit.edu	37	12	96407006	96407006	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:96407006C>T	uc001ten.1	-	13	1407	c.1339G>A	c.(1339-1341)Gcc>Acc	p.A447T	LTA4H_uc010suy.1_Missense_Mutation_p.A409T|LTA4H_uc010suz.1_Missense_Mutation_p.A409T|LTA4H_uc010sva.1_Non-coding_Transcript|LTA4H_uc009ztj.3_Non-coding_Transcript	NM_000895	NP_000886	P09960	LKHA4_HUMAN	Homo sapiens leukotriene A4 hydrolase (LTA4H), mRNA.	447					hormone biosynthetic process|inflammatory response|leukotriene biosynthetic process|peptide catabolic process|prostanoid metabolic process|proteolysis	cytosol|nucleus	aminopeptidase activity|epoxide hydrolase activity|leukotriene-A4 hydrolase activity|metallopeptidase activity|protein binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(3)|lung(4)|skin(2)|stomach(1)	12						TAGAGCCAGGCATTCCAATCA	0.393000														52			9		0	0	1	0	0
GYLTL1B	120071	broad.mit.edu	37	11	45949768	45949768	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:45949768G>A	uc001nbv.1	+	12	1906	c.1795G>A	c.(1795-1797)Gcc>Acc	p.A599T	GYLTL1B_uc001nbw.1_Missense_Mutation_p.A568T|GYLTL1B_uc001nbx.1_Missense_Mutation_p.A599T	NM_152312	NP_689525	Q8N3Y3	LARG2_HUMAN	Homo sapiens glycosyltransferase-like 1B (GYLTL1B), mRNA.	599					muscle cell homeostasis	Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups			breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(35;0.226)		CACAGACTATGCCCGCTGGCG	0.672000														67			10		0	0	1	0	0
BRWD1	54014	broad.mit.edu	37	21	40578093	40578093	+	Missense_Mutation	SNP	G	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:40578093G>C	uc002yxk.2	-	36	4600	c.4305C>G	c.(4303-4305)agC>agG	p.S1435R	BRWD1_uc010goc.1_Missense_Mutation_p.S78R|BRWD1_uc021wjf.1_Missense_Mutation_p.S1435R|BRWD1_uc010god.1_Missense_Mutation_p.S353R	NM_018963	NP_061836	Q9NSI6	BRWD1_HUMAN	Homo sapiens bromodomain and WD repeat domain containing 1 (BRWD1), transcript variant 1, mRNA.	1435					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				TGAACCTCTGGCTTCTTCGAA	0.323000														102			70		0	0	1	0	0
IRAK4	51135	broad.mit.edu	37	12	44176130	44176130	+	Missense_Mutation	SNP	A	G	G	rs147301051		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:44176130A>G	uc001rnu.3	+	9	1092	c.962A>G	c.(961-963)gAa>gGa	p.E321G	IRAK4_uc001rnt.3_Missense_Mutation_p.E321G|IRAK4_uc001rnx.3_Missense_Mutation_p.E197G|IRAK4_uc001rny.3_Missense_Mutation_p.E197G|IRAK4_uc010sky.1_Missense_Mutation_p.E197G|IRAK4_uc001rnv.3_Missense_Mutation_p.E197G|IRAK4_uc001rnw.3_Missense_Mutation_p.E197G	NM_001114182	NP_001138730	Q9NWZ3	IRAK4_HUMAN	Homo sapiens interleukin-1 receptor-associated kinase 4 (IRAK4), transcript variant 1, mRNA.	321	Protein kinase.				MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity					all_cancers(12;0.00149)	Lung NSC(34;0.0804)|all_lung(34;0.181)		GBM - Glioblastoma multiforme(48;0.04)		TTACTGGATGAAGCTTTTACT	0.383000														41			4		0	0	1	0	0
TUBA3C	7278	broad.mit.edu	37	13	19751365	19751365	+	Missense_Mutation	SNP	G	A	A	rs139914455		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:19751365G>A	uc009zzj.3	-	3	863	c.758C>T	c.(757-759)aCg>aTg	p.T253M		NM_006001	NP_525125	Q13748	TBA3C_HUMAN	Homo sapiens tubulin, alpha 3c (TUBA3C), mRNA.	253					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	p.T253T(2)		NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		CTGGAATTCCGTCAAGTCCAC	0.617000														76			9		0	0	1	0	0
SLC29A4	222962	broad.mit.edu	37	7	5338707	5338707	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:5338707G>A	uc003sod.3	+	7	1132	c.971G>A	c.(970-972)cGc>cAc	p.R324H	SLC29A4_uc011jwg.1_Non-coding_Transcript|SLC29A4_uc003soc.3_Missense_Mutation_p.R324H|SLC29A4_uc003soe.3_Missense_Mutation_p.R310H	NM_153247	NP_694979	Q7RTT9	S29A4_HUMAN	Homo sapiens solute carrier family 29 (nucleoside transporters), member 4 (SLC29A4), transcript variant 2, mRNA.	324					nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|integral to membrane	nucleoside transmembrane transporter activity			breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)		GCCTACATGCGCTTTGATGTG	0.711000														8			18		0	0	1	0	0
TAB2	23118	broad.mit.edu	37	6	149718775	149718775	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:149718775C>T	uc003qmj.3	+	3	1817	c.1639C>T	c.(1639-1641)Ctt>Ttt	p.L547F	TAB2_uc011eec.2_Missense_Mutation_p.L515F|TAB2_uc010kib.2_Missense_Mutation_p.L547F|TAB2_uc003qmk.4_Non-coding_Transcript|SUMO4_uc003qml.3_5'Flank	NM_015093	NP_055908	Q9NYJ8	TAB2_HUMAN	Homo sapiens TGF-beta activated kinase 1/MAP3K7 binding protein 2 (TAB2), mRNA.	547					I-kappaB kinase/NF-kappaB cascade|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T cell receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|heart development|innate immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	K63-linked polyubiquitin binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	22						AATGGAACGACTTCAAAGAGA	0.373000														158			90		0	0	1	0	0
MORN1	79906	broad.mit.edu	37	1	2318951	2318951	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:2318951G>A	uc001ajb.1	-	3	286	c.265C>T	c.(265-267)Cag>Tag	p.Q89*	MORN1_uc009vld.3_Nonsense_Mutation_p.Q65*|MORN1_uc001ajd.1_Nonsense_Mutation_p.Q89*|MORN1_uc010nyy.2_Silent_p.D31D	NM_024848	NP_079124	Q5T089	MORN1_HUMAN	Homo sapiens MORN repeat containing 1 (MORN1), mRNA.	89										breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(1)|ovary(2)	9	all_cancers(77;0.000194)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.3e-15)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;2.21e-37)|OV - Ovarian serous cystadenocarcinoma(86;5.01e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00137)|BRCA - Breast invasive adenocarcinoma(365;0.00488)|STAD - Stomach adenocarcinoma(132;0.00665)|KIRC - Kidney renal clear cell carcinoma(229;0.0203)|Lung(427;0.212)		AGAACAAACTGTCCAGAGAAG	0.612000														44			17		0	0	1	0	0
AMMECR1L	83607	broad.mit.edu	37	2	128631594	128631594	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:128631594C>T	uc002tpl.3	-	2	466	c.215G>A	c.(214-216)gGa>gAa	p.G72E	AMMECR1L_uc002tpm.3_Missense_Mutation_p.G72E	NM_031445	NP_113633	Q6DCA0	AMERL_HUMAN	Homo sapiens AMME chromosomal region gene 1-like (AMMECR1L), transcript variant 1, mRNA.	72										central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	9	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.07)		GGGAGAGTTTCCAGGTCCCAG	0.547000														56			27		0	0	1	0	0
MOGAT1	116255	broad.mit.edu	37	2	223554130	223554130	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:223554130T>C	uc010fws.1	+	2	468	c.420T>C	c.(418-420)ctT>ctC	p.L140L	MOGAT1_uc010fwt.1_Silent_p.L100L	NM_058165	NP_477513	Q96PD6	MOGT1_HUMAN	Homo sapiens monoacylglycerol O-acyltransferase 1 (MOGAT1), mRNA.	140					glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity			breast(1)|cervix(1)|endometrium(1)|lung(5)|urinary_tract(1)	9		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;2.06e-07)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0105)		CTTCATATCTTCACGTGCTGC	0.443000														53			48		0	0	1	0	0
CKAP5	9793	broad.mit.edu	37	11	46773018	46773018	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:46773018G>T	uc001ndi.2	-	38	5326	c.5200C>A	c.(5200-5202)Ctg>Atg	p.L1734M	CKAP5_uc009ylg.1_Missense_Mutation_p.L1620M|CKAP5_uc001ndj.2_Missense_Mutation_p.L1674M|CKAP5_uc001ndh.1_Missense_Mutation_p.L663M	NM_001008938	NP_001008938	Q14008	CKAP5_HUMAN	Homo sapiens cytoskeleton associated protein 5 (CKAP5), transcript variant 1, mRNA.	1734					G2/M transition of mitotic cell cycle|RNA transport|cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|mitotic prometaphase|spindle organization	centrosome|cytosol	protein binding			breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						TGGATATCCAGAAGAATTCTG	0.398000														102			62		2.50483e-33	3.31387e-33	1	1	0
SYNGAP1	8831	broad.mit.edu	37	6	33405668	33405668	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:33405668G>A	uc011dri.2	+	7	1181	c.986G>A	c.(985-987)cGt>cAt	p.R329H	SYNGAP1_uc003oeo.1_Missense_Mutation_p.R314H|SYNGAP1_uc010juy.3_Missense_Mutation_p.R314H|SYNGAP1_uc010juz.3_Missense_Mutation_p.R41H	NM_006772	NP_006763	Q96PV0	SYGP1_HUMAN	Homo sapiens synaptic Ras GTPase activating protein 1 (SYNGAP1), mRNA.	329	C2.				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						CATCTGTACCGTGACTCAGAC	0.622000														27			23		0	0	1	0	0
ITPR2	3709	broad.mit.edu	37	12	26809236	26809236	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:26809236A>G	uc001rhg.3	-	18	2855	c.2438T>C	c.(2437-2439)aTt>aCt	p.I813T		NM_002223	NP_002214	Q14571	ITPR2_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 2 (ITPR2), mRNA.	813					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					ATACTCATGAATTGTGATCTT	0.478000														60			6		0	0	1	0	0
SCN8A	6334	broad.mit.edu	37	12	52180523	52180523	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:52180523G>T	uc001ryw.3	+	21	4318	c.4140G>T	c.(4138-4140)atG>atT	p.M1380I	SCN8A_uc010snl.2_Missense_Mutation_p.M1339I|SCN8A_uc001rza.1_Non-coding_Transcript	NM_014191	NP_055006	Q9UQD0	SCN8A_HUMAN	Homo sapiens sodium channel, voltage gated, type VIII, alpha subunit (SCN8A), transcript variant 1, mRNA.	1380					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	AAAAGCTTATGGAGGGGAACA	0.393000														35			4		0.00909568	0.00940365	1	1	0
PLEKHG7	440107	broad.mit.edu	37	12	93157910	93157910	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:93157910G>A	uc001tcj.2	+	9	1104	c.874G>A	c.(874-876)Gat>Aat	p.D292N		NM_001004330	NP_001004330	Q6ZR37	PKHG7_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 7 (PLEKHG7), mRNA.	292	PH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	p.D292N(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)	17						TACAGTACTCGATCAGCCTAT	0.413000														93			60		0	0	1	0	0
GTF2H1	2965	broad.mit.edu	37	11	18379514	18379514	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:18379514G>A	uc001moi.2	+	12	1970	c.1276G>A	c.(1276-1278)Gct>Act	p.A426T	GTF2H1_uc001moh.2_Missense_Mutation_p.A426T|GTF2H1_uc009yhm.2_Missense_Mutation_p.A310T	NM_001142307	NP_005307	P32780	TF2H1_HUMAN	Homo sapiens general transcription factor IIH, polypeptide 1, 62kDa (GTF2H1), transcript variant 2, mRNA.	426					mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	protein binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						CTCAAGTAGTGCTGCCAGTAG	0.428000								Nucleotide excision repair (NER)						24			17		0	0	1	0	0
JAM3	83700	broad.mit.edu	37	11	134018710	134018710	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:134018710G>T	uc001qhb.2	+	7	1053	c.1029G>T	c.(1027-1029)gaG>gaT	p.E343D	JAM3_uc009zcz.2_Missense_Mutation_p.E247D	NM_032801	NP_116190	Q9BX67	JAM3_HUMAN	Homo sapiens junctional adhesion molecule 3 (JAM3), transcript variant 1, mRNA.	298					angiogenesis|blood coagulation|regulation of neutrophil chemotaxis	cell-cell contact zone|desmosome|extracellular space|integral to membrane	integrin binding			breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)	10	all_hematologic(175;0.127)	all_cancers(12;1.06e-21)|all_epithelial(12;3.37e-16)|all_lung(97;7.03e-06)|Lung NSC(97;1.67e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0506)|Esophageal squamous(93;0.0566)		Epithelial(10;1.55e-09)|BRCA - Breast invasive adenocarcinoma(10;1.35e-08)|all cancers(11;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00402)|Lung(977;0.245)		GCACTGACGAGGAGGTAATCA	0.463000														53			5		0.184627	0.186034	1	1	0
CDH11	1009	broad.mit.edu	37	16	65038691	65038691	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:65038691G>A	uc002eoi.3	-	2	516	c.82C>T	c.(82-84)Cgg>Tgg	p.R28W	CDH11_uc010cdn.3_Non-coding_Transcript|CDH11_uc002eoj.3_Missense_Mutation_p.R28W|CDH11_uc010vin.2_Intron|CDH11_uc010vio.1_Missense_Mutation_p.R28W	NM_001797	NP_001788	P55287	CAD11_HUMAN	Homo sapiens cadherin 11, type 2, OB-cadherin (osteoblast) (CDH11), mRNA.	28					adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		AGGTGCCCCCGCCGCTCTGGG	0.612000			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)				4			3		0	0	1	0	0
LAMA2	3908	broad.mit.edu	37	6	129601266	129601266	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:129601266C>T	uc021zfb.1	+	17	2616	c.2511C>T	c.(2509-2511)gtC>gtT	p.V837V	LAMA2_uc003qbn.3_Silent_p.V837V|LAMA2_uc003qbo.3_Silent_p.V837V	NM_000426	NP_000417	P24043	LAMA2_HUMAN	Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA.	837	Laminin EGF-like 7.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GATGCCCTGTCGGGTACACAG	0.453000														30			13		0	0	1	0	0
C1orf106	55765	broad.mit.edu	37	1	200869240	200869240	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:200869240G>A	uc001gvo.3	+	3	486	c.444G>A	c.(442-444)acG>acA	p.T148T	C1orf106_uc010ppm.2_Silent_p.T63T	NM_018265	NP_001136041	Q3KP66	CA106_HUMAN	Homo sapiens chromosome 1 open reading frame 106 (C1orf106), transcript variant 1, mRNA.	148										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						AGGAGCTGACGGGCACCTTGC	0.622000														10			7		0	0	1	0	0
EPDR1	54749	broad.mit.edu	37	7	37960397	37960397	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:37960397G>A	uc003tfp.3	+	0	235	c.216G>A	c.(214-216)agG>agA	p.R72R	EPDR1_uc003tfq.3_5'UTR|EPDR1_uc010kxh.3_5'Flank	NM_017549	NP_060019	Q9UM22	EPDR1_HUMAN	Homo sapiens ependymin related protein 1 (zebrafish) (EPDR1), transcript variant 1, mRNA.	0					cell-matrix adhesion	extracellular region	calcium ion binding			breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						AGCGGCAGAGGCCACCGAAGG	0.677000														22			25		0	0	1	0	0
C7	730	broad.mit.edu	37	5	40979852	40979852	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:40979852G>T	uc003jmh.3	+	16	2305	c.2191G>T	c.(2191-2193)Gat>Tat	p.D731Y	C7_uc011cpn.1_Non-coding_Transcript	NM_000587	NP_000578	P10643	CO7_HUMAN	Homo sapiens complement component 7 (C7), mRNA.	731	Complement control factor I module 1.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				ATGTGCTCAAGATGAGAGAAG	0.388000														21			16		3.41278e-10	4.10877e-10	1	1	0
NUP93	9688	broad.mit.edu	37	16	56839423	56839423	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:56839423G>A	uc002eka.3	+	4	489	c.368G>A	c.(367-369)gGc>gAc	p.G123D	NUP93_uc002ekb.3_5'UTR|NUP93_uc010vhi.2_5'UTR	NM_014669	NP_001229725	Q8N1F7	NUP93_HUMAN	Homo sapiens nucleoporin 93kDa (NUP93), transcript variant 1, mRNA.	123					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						CAGACCTTCGGCATGGCTGAG	0.483000														31			36		0	0	1	0	0
RPRD2	23248	broad.mit.edu	37	1	150445743	150445743	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:150445743G>T	uc009wlr.3	+	10	4520	c.4319G>T	c.(4318-4320)aGg>aTg	p.R1440M	RPRD2_uc010pcc.1_3'UTR|RPRD2_uc001eup.4_Missense_Mutation_p.R1414M	NM_015203	NP_056018	Q5VT52	RPRD2_HUMAN	Homo sapiens regulation of nuclear pre-mRNA domain containing 2 (RPRD2), mRNA.	1440	Pro-rich.						protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						AAGAGACCCAGGCCACCTTTT	0.517000														78			21		6.33239e-15	7.95586e-15	1	1	0
UNC5C	8633	broad.mit.edu	37	4	96222898	96222898	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:96222898G>A	uc003hto.3	-	2	702	c.349C>T	c.(349-351)Ctc>Ttc	p.L117F	UNC5C_uc010ilc.2_Missense_Mutation_p.L117F|UNC5C_uc003htq.3_Missense_Mutation_p.L117F	NM_003728	NP_003719	O95185	UNC5C_HUMAN	Homo sapiens unc-5 homolog C (C. elegans) (UNC5C), mRNA.	117	Ig-like.				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		CGGACAATGAGACCTGACAAG	0.433000														14			4		0	0	1	0	0
NCAN	1463	broad.mit.edu	37	19	19351456	19351456	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:19351456G>A	uc002nlz.3	+	11	3553	c.3454G>A	c.(3454-3456)Gtg>Atg	p.V1152M	NCAN_uc002nma.3_5'UTR	NM_004386	NP_004377	O14594	NCAN_HUMAN	Homo sapiens neurocan (NCAN), mRNA.	1152	C-type lectin.				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			CGACAGGATCGTGGAGAGAGA	0.632000														35			20		0	0	1	0	0
NUCB2	4925	broad.mit.edu	37	11	17323300	17323300	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:17323300C>T	uc001mmw.3	+	4	507	c.262C>T	c.(262-264)Cta>Tta	p.L88L	NUCB2_uc001mms.1_Silent_p.L89L|NUCB2_uc001mmt.1_Silent_p.L88L|NUCB2_uc001mmv.1_Silent_p.L88L|NUCB2_uc009ygz.3_Silent_p.L88L	NM_005013	NP_005004	P80303	NUCB2_HUMAN	Homo sapiens nucleobindin 2 (NUCB2), mRNA.	88						ER-Golgi intermediate compartment|Golgi apparatus|cytosol|extracellular space|plasma membrane	DNA binding|calcium ion binding			kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						GAGTGGGAGGCTAAGCAAAGA	0.323000														47			25		0	0	1	0	0
CELSR2	1952	broad.mit.edu	37	1	109795063	109795063	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:109795063C>T	uc001dxa.4	+	0	2423	c.2362C>T	c.(2362-2364)Cgg>Tgg	p.R788W		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 2 (flamingo homolog, Drosophila) (CELSR2), mRNA.	788	Cadherin 6.				Wnt receptor signaling pathway|dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent	cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CATTACTGCTCGGGACAATGG	0.572000														38			24		0	0	1	0	0
KLHL20	27252	broad.mit.edu	37	1	173725148	173725148	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:173725148C>A	uc001gjc.3	+	5	1117	c.938C>A	c.(937-939)cCt>cAt	p.P313H	KLHL20_uc010pmr.2_Missense_Mutation_p.P124H|KLHL20_uc009wwf.3_Missense_Mutation_p.P295H	NM_014458	NP_055273	Q9Y2M5	KLH20_HUMAN	Homo sapiens kelch-like 20 (Drosophila) (KLHL20), mRNA.	313					cytoskeleton organization|negative regulation of apoptosis|proteasomal ubiquitin-dependent protein catabolic process|response to interferon-alpha	Cul3-RING ubiquitin ligase complex|Golgi apparatus|PML body|actin cytoskeleton|cell surface|perinuclear region of cytoplasm	actin binding|interferon-gamma binding|ubiquitin-protein ligase activity			breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1)	34						CCACGGAAACCTATCCGATGT	0.408000														22			8		0.000157383	0.000170012	1	1	0
PRICKLE1	144165	broad.mit.edu	37	12	42854319	42854319	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:42854319C>A	uc010skv.2	-	7	2075	c.1788G>T	c.(1786-1788)aaG>aaT	p.K596N	PRICKLE1_uc001rnl.3_Missense_Mutation_p.K596N|PRICKLE1_uc010skw.2_Missense_Mutation_p.K596N|PRICKLE1_uc001rnm.3_Missense_Mutation_p.K596N|PRICKLE1_uc001rnk.1_5'Flank	NM_001144881	NP_694571	Q96MT3	PRIC1_HUMAN	Homo sapiens prickle homolog 1 (Drosophila) (PRICKLE1), transcript variant 2, mRNA.	596					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus	cytosol|nuclear membrane	zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		AACTTAGACTCTTTAAGGACT	0.458000														92			64		3.19559e-11	3.89557e-11	1	1	0
C1orf187	374946	broad.mit.edu	37	1	11775175	11775175	+	Splice_Site	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:11775175G>T	uc001asr.1	+	6	988	c.848_splice	c.e6-1	p.G283_splice		NM_198545	NP_940947	Q8NBI3	DRAXI_HUMAN	Homo sapiens chromosome 1 open reading frame 187 (C1orf187), mRNA.	283					Wnt receptor signaling pathway|axon guidance|commissural neuron differentiation in spinal cord|dorsal spinal cord development|forebrain development|negative regulation of canonical Wnt receptor signaling pathway	extracellular region				breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(2)	15	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.48e-06)|COAD - Colon adenocarcinoma(227;0.000283)|BRCA - Breast invasive adenocarcinoma(304;0.000316)|Kidney(185;0.000841)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|STAD - Stomach adenocarcinoma(313;0.00754)|READ - Rectum adenocarcinoma(331;0.0651)		TGTGTTGGCAGGGACTTGCTG	0.607000														35			4		1.024e-07	1.18895e-07	1	1	0
DVL3	1857	broad.mit.edu	37	3	183882303	183882303	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:183882303A>G	uc003fms.3	+	3	517	c.377A>G	c.(376-378)cAg>cGg	p.Q126R	DVL3_uc011bqw.2_Missense_Mutation_p.Q126R|DVL3_uc003fmt.3_5'UTR|DVL3_uc003fmu.3_5'UTR	NM_004423	NP_004414	Q92997	DVL3_HUMAN	Homo sapiens dishevelled, dsh homolog 3 (Drosophila) (DVL3), mRNA.	126					canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	cytoplasm	beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1)	35	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)			GGGGGCAGCCAGGAGAACCTG	0.647000														42			4		0	0	1	0	0
RPS6KA3	6197	broad.mit.edu	37	X	20190905	20190905	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:20190905T>C	uc004czu.3	-	14	1312	c.1312A>G	c.(1312-1314)Aga>Gga	p.R438G	RPS6KA3_uc011mjk.2_Missense_Mutation_p.R408G|RPS6KA3_uc004czv.3_Missense_Mutation_p.R425G|RPS6KA3_uc011mjl.2_Missense_Mutation_p.R409G|RPS6KA3_uc011mjm.2_Missense_Mutation_p.R410G	NM_004586	NP_004577	P51812	KS6A3_HUMAN	Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 3 (RPS6KA3), mRNA.	438	Protein kinase 2.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|axon guidance|central nervous system development|innate immune response|nerve growth factor receptor signaling pathway|skeletal system development|stress-activated MAPK cascade|synaptic transmission|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(14)|lung(7)|ovary(1)|stomach(1)	41						TGTATACATCTCTTGCAAACA	0.323000														30			5		0	0	1	0	0
NUP153	9972	broad.mit.edu	37	6	17629558	17629558	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:17629558C>A	uc003ncd.1	-	17	3072	c.2872G>T	c.(2872-2874)Gat>Tat	p.D958Y	NUP153_uc011dje.1_Missense_Mutation_p.D989Y|NUP153_uc010jpl.1_Missense_Mutation_p.D916Y	NM_005124	NP_005115	P49790	NU153_HUMAN	Homo sapiens nucleoporin 153kDa (NUP153), mRNA.	958					carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			AATTTAAAATCTCCTATTGGT	0.333000														77			6		0.00116845	0.00123466	1	1	0
RAB40AL	282808	broad.mit.edu	37	X	102192955	102192955	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:102192955C>T	uc004ejs.3	+	0	756	c.709C>T	c.(709-711)Cga>Tga	p.R237*		NM_001031834	NP_001027004	P0C0E4	RB40L_HUMAN	Homo sapiens RAB40A, member RAS oncogene family-like (RAB40AL), mRNA.	237					protein transport|small GTPase mediated signal transduction	mitochondrion|plasma membrane	GTP binding	p.R237*(3)|p.R237Q(1)		endometrium(4)|large_intestine(2)|lung(3)|ovary(3)	12						CAGGATGATGCGAGGCCTCTC	0.572000														99			59		0	0	1	0	0
LINGO2	158038	broad.mit.edu	37	9	27949585	27949585	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:27949585C>T	uc003zqv.1	-	6	1735	c.1085G>A	c.(1084-1086)cGc>cAc	p.R362H	LINGO2_uc010mjf.1_Missense_Mutation_p.R362H|LINGO2_uc003zqu.1_Missense_Mutation_p.R362H|LINGO2_uc022bfc.1_Missense_Mutation_p.R362H	NM_152570	NP_689783	Q7L985	LIGO2_HUMAN	Homo sapiens leucine rich repeat and Ig domain containing 2 (LINGO2), mRNA.	362	LRRCT.					integral to membrane				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		CCAGAGAAGGCGGCAGTCACA	0.547000														24			8		0	0	1	0	0
BIRC6	57448	broad.mit.edu	37	2	32740275	32740275	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:32740275C>T	uc010ezu.3	+	54	10921	c.10787C>T	c.(10786-10788)tCt>tTt	p.S3596F		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	Homo sapiens baculoviral IAP repeat containing 6 (BIRC6), mRNA.	3596					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					ACAGATGACTCTAAAAATGCA	0.408000														35			17		0	0	1	0	0
COL9A2	1298	broad.mit.edu	37	1	40777351	40777351	+	Nonsense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:40777351C>A	uc001cfh.1	-	8	566	c.454G>T	c.(454-456)Gga>Tga	p.G152*	COL9A2_uc001cfi.1_5'UTR	NM_001852	NP_001843	Q14055	CO9A2_HUMAN	Homo sapiens collagen, type IX, alpha 2 (COL9A2), mRNA.	152	Triple-helical region 4 (COL4).				axon guidance|skeletal system development	collagen type IX		p.P151L(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)			CCAGGGGGTCCTGGGGGCCCC	0.607000														89			10		2.74318e-10	3.3084e-10	1	1	0
GTF3C1	2975	broad.mit.edu	37	16	27518325	27518325	+	Silent	SNP	C	T	T	rs148269085		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:27518325C>T	uc002dov.2	-	8	1435	c.1395G>A	c.(1393-1395)tcG>tcA	p.S465S	GTF3C1_uc002dou.3_Silent_p.S465S	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 1, alpha 220kDa (GTF3C1), mRNA.	465						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						CAGGCAGAAGCGACTCCTCCT	0.597000														25			18		0	0	1	0	0
SLC25A3	5250	broad.mit.edu	37	12	98989291	98989291	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:98989291C>T	uc001tfo.3	+	2	358	c.238C>T	c.(238-240)Cat>Tat	p.H80Y	SLC25A3_uc001tfm.3_Intron|SLC25A3_uc001tfn.3_Intron|SLC25A3_uc001tfp.3_Intron|SLC25A3_uc001tfq.3_5'UTR|SLC25A3_uc001tfr.3_Missense_Mutation_p.H80Y|SLC25A3_uc001tfs.3_5'UTR	NM_005888	NP_005879	Q00325	MPCP_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3 (SLC25A3), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	80					generation of precursor metabolites and energy	integral to plasma membrane|mitochondrial inner membrane	phosphate carrier activity|symporter activity			breast(1)|endometrium(2)|large_intestine(4)|lung(8)|prostate(1)	16		Lung NSC(355;4.08e-05)|Breast(359;0.00191)|Colorectal(145;0.00205)|Myeloproliferative disorder(1001;0.0255)		GBM - Glioblastoma multiforme(134;1.36e-23)|BRCA - Breast invasive adenocarcinoma(302;0.000115)		TGGCACAACACATACAGCATT	0.393000														81			44		0	0	1	0	0
C9orf80	58493	broad.mit.edu	37	9	115451815	115451815	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:115451815C>T	uc004bgg.3	-	3	388	c.211G>A	c.(211-213)Gct>Act	p.A71T	C9orf80_uc010muk.3_Intron	NM_021218	NP_067041	Q9NRY2	SOSSC_HUMAN	Homo sapiens chromosome 9 open reading frame 80 (C9orf80), mRNA.	71					DNA repair|response to ionizing radiation	SOSS complex	protein binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)	4						ACCTGCAAAGCTGCCTTCTGT	0.478000														37			22		0	0	1	0	0
ZNF432	9668	broad.mit.edu	37	19	52537990	52537990	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:52537990C>A	uc002pyk.3	-	4	1260	c.942G>T	c.(940-942)gaG>gaT	p.E314D		NM_014650	NP_055465	O94892	ZN432_HUMAN	Homo sapiens zinc finger protein 432 (ZNF432), mRNA.	314					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	29		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182)		TATAGGATTTCTCTCCAGTAT	0.418000														110			7		2.0095e-06	2.27092e-06	1	1	0
CATSPERD	257062	broad.mit.edu	37	19	5778489	5778489	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:5778489C>T	uc002mda.3	+	21	2260	c.2199C>T	c.(2197-2199)atC>atT	p.I733I		NM_152784	NP_689997	Q86XM0	TM146_HUMAN	Homo sapiens transmembrane protein 146 (TMEM146), mRNA.	733						integral to membrane											TCTCCAGCATCCTGGGGTCCG	0.562000														31			20		0	0	1	0	0
NPAT	4863	broad.mit.edu	37	11	108061207	108061207	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:108061207C>A	uc001pjz.4	-	4	413	c.311G>T	c.(310-312)aGg>aTg	p.R104M	NPAT_uc001pka.3_5'Flank	NM_002519	NP_002510	Q14207	NPAT_HUMAN	Homo sapiens nuclear protein, ataxia-telangiectasia locus (NPAT), mRNA.	104	Interaction with MIZF.				positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		GCCAGCAAACCTTGGGGAACT	0.348000														40			4		0.000602214	0.000641151	1	1	0
SKIL	6498	broad.mit.edu	37	3	170102422	170102422	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:170102422C>T	uc003fgu.3	+	3	2010	c.1298C>T	c.(1297-1299)tCc>tTc	p.S433F	SKIL_uc011bps.2_Missense_Mutation_p.S413F|SKIL_uc003fgv.3_Intron|SKIL_uc003fgw.3_Missense_Mutation_p.S433F	NM_005414	NP_005405	P12757	SKIL_HUMAN	Homo sapiens SKI-like oncogene (SKIL), transcript variant 1, mRNA.	433					cell cycle arrest|negative regulation of cell differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of axonogenesis|protein heterotrimerization|protein homotrimerization|regulation of apoptosis|response to antibiotic|response to growth factor stimulus|skeletal muscle tissue development	PML body|cytoplasm	SMAD binding|chromatin binding|nucleotide binding|protein complex binding|protein domain specific binding|transcription corepressor activity|transcription repressor activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	25	all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			GCAAGTAAGTCCATATCAAGA	0.403000														95			8		0	0	1	0	0
TRAPPC8	22878	broad.mit.edu	37	18	29454613	29454613	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:29454613C>A	uc002kxc.4	-	12	2147	c.1783G>T	c.(1783-1785)Ggc>Tgc	p.G595C	TRAPPC8_uc002kxb.4_Missense_Mutation_p.G541C|TRAPPC8_uc002kxd.4_Non-coding_Transcript|TRAPPC8_uc021uio.1_Missense_Mutation_p.G595C|TRAPPC8_uc002kxe.2_Missense_Mutation_p.G595C	NM_014939	NP_055754	Q9Y2L5	TPPC8_HUMAN	Homo sapiens trafficking protein particle complex 8 (TRAPPC8), mRNA.	595					ER to Golgi vesicle-mediated transport	cis-Golgi network				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						AGAGACCAGCCTTTTCCTTTG	0.363000														55			25		6.07407e-21	7.85226e-21	1	1	0
PHLPP1	23239	broad.mit.edu	37	18	60527781	60527781	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:60527781C>A	uc021ule.1	+	3	2258	c.2013C>A	c.(2011-2013)ttC>ttA	p.F671L		NM_194449	NP_919431	O60346	PHLP1_HUMAN	Homo sapiens PH domain and leucine rich repeat protein phosphatase 1 (PHLPP1), mRNA.	671					apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|membrane|nucleus	metal ion binding|protein serine/threonine phosphatase activity			endometrium(2)|kidney(2)|lung(13)	17						AACAAAACTTCCTAAGGCAGA	0.502000														21			4		0.00024832	0.000267289	1	1	0
EFTUD1	79631	broad.mit.edu	37	15	82443885	82443885	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:82443885G>A	uc002bgt.1	-	17	3079	c.2910C>T	c.(2908-2910)cgC>cgT	p.R970R	EFTUD1_uc002bgu.1_Silent_p.R919R	NM_024580	NP_078856	Q7Z2Z2	ETUD1_HUMAN	Homo sapiens elongation factor Tu GTP binding domain containing 1 (EFTUD1), transcript variant 1, mRNA.	970					mature ribosome assembly		GTP binding|GTPase activity|ribosome binding|translation elongation factor activity			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						GCAGTGCATAGCGACATGCTT	0.473000														62			45		0	0	1	0	0
MAU2	23383	broad.mit.edu	37	19	19466199	19466199	+	Splice_Site	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:19466199C>T	uc002nmk.4	+	18	1806	c.1767_splice	c.e18+1	p.T589_splice	MAU2_uc002nml.4_Splice_Site_p.T194_splice|MAU2_uc010ecd.3_Splice_Site_p.T194_splice|MAU2_uc010ece.3_Splice_Site_p.T165_splice	NM_015329	NP_056144	Q9Y6X3	SCC4_HUMAN	Homo sapiens MAU2 chromatid cohesion factor homolog (C. elegans) (MAU2), mRNA.	589					cell division|maintenance of mitotic sister chromatid cohesion	SMC loading complex|chromatin|nucleoplasm	protein N-terminus binding			NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	18						AACCTCATCACGGTACGGGTG	0.582000														46			27		0	0	1	0	0
XPC	7508	broad.mit.edu	37	3	14200186	14200186	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:14200186G>A	uc011ave.2	-	8	1301	c.1197C>T	c.(1195-1197)agC>agT	p.S399S	XPC_uc011avf.2_Silent_p.S206S|XPC_uc011avg.2_Silent_p.S362S|XPC_uc021wtl.1_5'Flank|XPC_uc021wtm.1_5'UTR	NM_004628	NP_004619	Q01831	XPC_HUMAN	Homo sapiens xeroderma pigmentosum, complementation group C (XPC), transcript variant 1, mRNA.	399					nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal	XPC complex|cytoplasm|nucleoplasm	bubble DNA binding|damaged DNA binding|loop DNA binding|protein binding|single-stranded DNA binding			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CATCTTCCTCGCTGGAGGAGG	0.597000			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum					71			52		0	0	1	0	0
FMR1NB	158521	broad.mit.edu	37	X	147088322	147088322	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:147088322G>A	uc004fcm.3	+	2	572	c.498G>A	c.(496-498)tcG>tcA	p.S166S		NM_152578	NP_689791	Q8N0W7	FMR1N_HUMAN	Homo sapiens fragile X mental retardation 1 neighbor (FMR1NB), mRNA.	166	P-type.					integral to membrane		p.S165L(2)		breast(2)|cervix(1)|endometrium(3)|large_intestine(7)|lung(10)|ovary(1)|skin(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					TTTCATCATCGGGGACCACGA	0.368000														129			14		0	0	1	0	0
OR1J1	347168	broad.mit.edu	37	9	125239577	125239577	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:125239577G>A	uc011lyu.2	-	0	629	c.629C>T	c.(628-630)cCa>cTa	p.P210L	OR1J2_uc004bmj.2_Intron	NM_001004451	NP_001004451	Q8NGS3	OR1J1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily J, member 1 (OR1J1), mRNA.	210					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	16						GCACAGGAATGGAAGCATAAT	0.493000														46			7		0	0	1	0	0
POU3F4	5456	broad.mit.edu	37	X	82763427	82763427	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:82763427G>A	uc004eeg.2	+	0	159	c.95G>A	c.(94-96)cGc>cAc	p.R32H		NM_000307	NP_000298	P49335	PO3F4_HUMAN	Homo sapiens POU class 3 homeobox 4 (POU3F4), mRNA.	32					sensory perception of sound	nucleus	sequence-specific DNA binding transcription factor activity	p.F31L(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	37						AGTCCTTTCCGCAACCCTCAG	0.597000														15			6		0	0	1	0	0
CACNB2	783	broad.mit.edu	37	10	18807845	18807845	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:18807845G>T	uc001ipr.2	+	8	952	c.892G>T	c.(892-894)Gat>Tat	p.D298Y	CACNB2_uc001ipt.2_Missense_Mutation_p.D260Y|CACNB2_uc009xjz.1_Intron|CACNB2_uc001ips.2_Missense_Mutation_p.D274Y|CACNB2_uc010qcl.2_Non-coding_Transcript|CACNB2_uc001ipu.3_Missense_Mutation_p.D270Y|CACNB2_uc001ipv.3_Missense_Mutation_p.D246Y|CACNB2_uc009xka.2_Missense_Mutation_p.D232Y|CACNB2_uc001ipw.2_Missense_Mutation_p.D205Y|CACNB2_uc001ipx.2_Missense_Mutation_p.D243Y|CACNB2_uc010qcm.2_Missense_Mutation_p.D244Y|CACNB2_uc001ipz.2_Missense_Mutation_p.D220Y|CACNB2_uc001ipy.2_Missense_Mutation_p.D244Y|CACNB2_uc010qcn.2_Missense_Mutation_p.D212Y|CACNB2_uc010qco.1_Missense_Mutation_p.D212Y|CACNB2_uc001iqa.2_Missense_Mutation_p.D250Y|NSUN6_uc001iqb.3_Intron	NM_201596	NP_963890	Q08289	CACB2_HUMAN	Homo sapiens calcium channel, voltage-dependent, beta 2 subunit (CACNB2), transcript variant 2, mRNA.	298					axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	GCAGGTCACAGATATGATGCA	0.333000														106			10		0.00010058	0.000109296	1	1	0
TRPM2	7226	broad.mit.edu	37	21	45784155	45784155	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:45784155A>G	uc010gpt.1	+	2	513	c.413A>G	c.(412-414)aAg>aGg	p.K138R	TRPM2_uc002zet.1_Missense_Mutation_p.K138R|TRPM2_uc002zeu.1_Missense_Mutation_p.K138R|TRPM2_uc021wjr.1_Non-coding_Transcript|TRPM2_uc002zew.1_Missense_Mutation_p.K138R	NM_003307	NP_003298	O94759	TRPM2_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 2 (TRPM2), transcript variant 1, mRNA.	138						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						CTGAGCCAGAAGGTGAAAAAG	0.577000														63			5		0	0	1	0	0
FOXP1	27086	broad.mit.edu	37	3	71102876	71102876	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:71102876G>A	uc003dol.3	-	3	654	c.331C>T	c.(331-333)Caa>Taa	p.Q111*	FOXP1_uc003dom.3_Intron|FOXP1_uc003don.3_Non-coding_Transcript|FOXP1_uc021xan.1_Nonsense_Mutation_p.Q111*|FOXP1_uc003doo.3_Nonsense_Mutation_p.Q111*|FOXP1_uc003dop.3_Nonsense_Mutation_p.Q111*|FOXP1_uc021xao.1_Nonsense_Mutation_p.Q111*|FOXP1_uc003doq.1_Nonsense_Mutation_p.Q111*|FOXP1_uc003doi.3_Nonsense_Mutation_p.Q11*|FOXP1_uc003dok.3_Intron|FOXP1_uc003doj.3_Nonsense_Mutation_p.Q113*	NM_001244814	NP_001231743	Q9H334	FOXP1_HUMAN	Homo sapiens forkhead box P1 (FOXP1), transcript variant 7, mRNA.	111	Gln-rich.				cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	DNA bending activity|chromatin binding|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA 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|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		TGCTGCATTTGCTGGGGAGTG	0.507000			T	PAX5	ALL									36			19		0	0	1	0	0
EIF3A	8661	broad.mit.edu	37	10	120818756	120818756	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:120818756C>T	uc001ldu.3	-	10	1743	c.1597G>A	c.(1597-1599)Gca>Aca	p.A533T	EIF3A_uc010qsu.2_Missense_Mutation_p.A499T	NM_003750	NP_003741	Q14152	EIF3A_HUMAN	Homo sapiens eukaryotic translation initiation factor 3, subunit A (EIF3A), mRNA.	533					formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity			endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		ACTTCAAGTGCTTTTGCAAGT	0.453000														81			29		0	0	1	0	0
KL	9365	broad.mit.edu	37	13	33634963	33634963	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:33634963G>A	uc001uus.3	+	3	1755	c.1747G>A	c.(1747-1749)Gct>Act	p.A583T	KL_uc001uur.1_3'UTR	NM_004795	NP_004786	Q9UEF7	KLOT_HUMAN	Homo sapiens klotho (KL), mRNA.	583	Glycosyl hydrolase-1 2.				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		GCCCCAGATCGCTTTACTCCA	0.507000														38			37		0	0	1	0	0
TSN	7247	broad.mit.edu	37	2	122522801	122522801	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:122522801G>A	uc002tnl.3	+	5	780	c.545G>A	c.(544-546)cGc>cAc	p.R182H	TSN_uc002tnm.3_Missense_Mutation_p.R135H|TSN_uc010yze.2_3'UTR|TSN_uc010flt.3_Non-coding_Transcript	NM_004622	NP_004613	Q15631	TSN_HUMAN	Homo sapiens translin (TSN), mRNA.	182	Leucine-zipper (Potential).				DNA recombination	cytoplasm|nucleus	sequence-specific DNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(3)|skin(1)	12		Ovarian(717;0.0563)|Prostate(154;0.116)				TCCGGTTTTCGCCTTCTCAAC	0.512000														141			95		0	0	1	0	0
ARL14	80117	broad.mit.edu	37	3	160395143	160395143	+	Silent	SNP	G	A	A	rs144011121		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:160395143G>A	uc003fdq.3	+	0	196	c.9G>A	c.(7-9)tcG>tcA	p.S3S		NM_025047	NP_079323	Q8N4G2	ARL14_HUMAN	Homo sapiens ADP-ribosylation factor-like 14 (ARL14), mRNA.	3					small GTPase mediated signal transduction	intracellular	GTP binding			lung(6)	6			Lung(72;7.02e-05)|LUSC - Lung squamous cell carcinoma(72;7.23e-05)			AAATGGGTTCGCTGGGTTCTA	0.393000														36			30		0	0	1	0	0
ALDH3A1	218	broad.mit.edu	37	17	19645423	19645423	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:19645423T>C	uc002gwk.3	-	2	1197	c.934A>G	c.(934-936)Atc>Gtc	p.I312V	ALDH3A1_uc010cqu.3_Missense_Mutation_p.I195V|ALDH3A1_uc010vzd.2_Missense_Mutation_p.I195V|ALDH3A1_uc002gwj.3_Missense_Mutation_p.I195V|ALDH3A1_uc010cqv.3_Missense_Mutation_p.I195V|ALDH3A1_uc002gwl.1_Missense_Mutation_p.I122V			P30838	AL3A1_HUMAN	Homo sapiens aldehyde dehydrogenase 3 family, member A1 (ALDH3A1), transcript variant 2, mRNA.	195					cellular aldehyde metabolic process	cytosol|endoplasmic reticulum	alcohol dehydrogenase (NADP+) activity|aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)			Colorectal(15;0.0829)	NADH(DB00157)	GTCATGATGATCTTCCCCACC	0.597000														24			14		0	0	1	0	0
C10orf140	387640	broad.mit.edu	37	10	21804047	21804047	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:21804047T>C	uc009xkd.3	-	3	4958	c.2705A>G	c.(2704-2706)aAa>aGa	p.K902R	AK055656_uc001iqp.1_Intron|C10orf140_uc021pnx.1_Missense_Mutation_p.K902R	NM_207371	NP_997254	Q1XH10	DLN1_HUMAN	Homo sapiens chromosome 10 open reading frame 140 (C10orf140), mRNA.	821						nucleus	nucleotide binding			kidney(1)|large_intestine(8)|lung(9)|ovary(1)|soft_tissue(1)|urinary_tract(1)	21						TTTCCTGAATTTGTGACTAGG	0.388000														23			4		0	0	1	0	0
ZNF226	7769	broad.mit.edu	37	19	44680813	44680813	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:44680813G>T	uc002oys.3	+	5	1578	c.1398G>T	c.(1396-1398)caG>caT	p.Q466H	ZNF226_uc002oyp.3_Missense_Mutation_p.Q466H|ZNF226_uc002oyq.3_Missense_Mutation_p.Q349H|ZNF226_uc002oyr.3_Missense_Mutation_p.Q349H|ZNF226_uc002oyt.3_Missense_Mutation_p.Q466H	NM_001032372	NP_001027545	Q9NYT6	ZN226_HUMAN	Homo sapiens zinc finger protein 226 (ZNF226), transcript variant 1, mRNA.	466					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						Prostate(69;0.0352)|all_neural(266;0.202)				AGGCCCATCAGGGAGTTCACA	0.443000														55			7		5.18039e-06	5.80246e-06	1	1	0
KIF13A	63971	broad.mit.edu	37	6	17794856	17794856	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:17794856C>T	uc003ncg.4	-	23	3182	c.3022G>A	c.(3022-3024)Gaa>Aaa	p.E1008K	KIF13A_uc003ncf.3_Missense_Mutation_p.E1008K|KIF13A_uc003nch.4_Missense_Mutation_p.E1008K|KIF13A_uc003nci.4_Missense_Mutation_p.E1008K	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	Homo sapiens kinesin family member 13A (KIF13A), transcript variant 1, mRNA.	1008					Golgi to plasma membrane protein transport|cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			TGATGAAGTTCCACTGCAGCA	0.388000														17			10		0	0	1	0	0
NUCB2	4925	broad.mit.edu	37	11	17317743	17317743	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:17317743C>T	uc001mmw.3	+	3	482	c.237C>T	c.(235-237)gaC>gaT	p.D79D	NUCB2_uc001mms.1_Silent_p.D80D|NUCB2_uc001mmt.1_Silent_p.D79D|NUCB2_uc009ygw.1_Non-coding_Transcript|NUCB2_uc001mmv.1_Silent_p.D79D|NUCB2_uc009ygx.1_Non-coding_Transcript|NUCB2_uc009ygy.1_Silent_p.D79D|NUCB2_uc009ygz.3_Silent_p.D79D	NM_005013	NP_005004	P80303	NUCB2_HUMAN	Homo sapiens nucleobindin 2 (NUCB2), mRNA.	79						ER-Golgi intermediate compartment|Golgi apparatus|cytosol|extracellular space|plasma membrane	DNA binding|calcium ion binding			kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						AGAAAGCAGACATAGAGGAAA	0.308000														40			5		0	0	1	0	0
BIN3	55909	broad.mit.edu	37	8	22479052	22479052	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:22479052G>T	uc003xcl.3	-	8	742	c.645C>A	c.(643-645)atC>atA	p.I215I	BIN3_uc010ltw.3_Silent_p.I161I	NM_018688	NP_061158	Q9NQY0	BIN3_HUMAN	Homo sapiens bridging integrator 3 (BIN3), mRNA.	215	BAR.				actin filament organization|barrier septum formation|cell cycle|protein localization|unidimensional cell growth	cytoplasm|cytoskeleton	cytoskeletal adaptor activity			kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	9		Prostate(55;0.0424)|Breast(100;0.102)|all_epithelial(46;0.143)		BRCA - Breast invasive adenocarcinoma(99;0.00664)|Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727)		GGTCTCCAAAGATCTTGTGCA	0.622000														38			29		2.85442e-18	3.65487e-18	1	1	0
BICD2	23299	broad.mit.edu	37	9	95482688	95482688	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:95482688G>A	uc004asp.1	-	3	1013	c.956C>T	c.(955-957)aCg>aTg	p.T319M	BICD2_uc004aso.1_Missense_Mutation_p.T319M	NM_001003800	NP_001003800	Q8TD16	BICD2_HUMAN	Homo sapiens bicaudal D homolog 2 (Drosophila) (BICD2), transcript variant 1, mRNA.	319					microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	Golgi apparatus|cytoplasmic vesicle|cytoskeleton|plasma membrane	Rab GTPase binding			cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						CTTCTTGGGCGTGGAGGTCTT	0.622000														32			30		0	0	1	0	0
KBTBD3	143879	broad.mit.edu	37	11	105929784	105929784	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:105929784C>T	uc001pja.3	-	2	681	c.41G>A	c.(40-42)cGa>cAa	p.R14Q	KBTBD3_uc001pjb.3_Missense_Mutation_p.R14Q|KBTBD3_uc009yxm.3_Intron	NM_198439	NP_940841	Q8NAB2	KBTB3_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 3 (KBTBD3), transcript variant 2, mRNA.	10										NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	25		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299)		ACATGTGCTTCGTTGATTGAA	0.328000														27			9		0	0	1	0	0
TMEM209	84928	broad.mit.edu	37	7	129841754	129841754	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:129841754G>A	uc003vpn.2	-	4	632	c.509C>T	c.(508-510)tCc>tTc	p.S170F	TMEM209_uc010lmc.1_Missense_Mutation_p.S170F|TMEM209_uc003vpo.2_Missense_Mutation_p.S170F	NM_032842	NP_116231	Q96SK2	TM209_HUMAN	Homo sapiens transmembrane protein 209 (TMEM209), mRNA.	170	Ser-rich.					integral to membrane				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	12	Melanoma(18;0.0435)					GCCACCTGAGGACAGACCTTG	0.493000														38			11		0	0	1	0	0
EPHA1	2041	broad.mit.edu	37	7	143088766	143088766	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:143088766G>A	uc003wcz.3	-	16	2886	c.2799C>T	c.(2797-2799)caC>caT	p.H933H		NM_005232	NP_005223	P21709	EPHA1_HUMAN	Homo sapiens EPH receptor A1 (EPHA1), mRNA.	933	SAM.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				CCGAGTGGAAGTGCAGGATGT	0.612000														39			4		0	0	1	0	0
KRTAP4-8	728224	broad.mit.edu	37	17	39254125	39254125	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:39254125A>G	uc010wfo.2	-	0	251	c.212T>C	c.(211-213)gTg>gCg	p.V71A		NM_031960	NP_114166	Q9BYQ9	KRA48_HUMAN	Homo sapiens keratin associated protein 4-8 (KRTAP4-8), mRNA.	71	25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].					keratin filament				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						GCAGCTGGACACACAGCAGCT	0.667000														11			13		0	0	1	0	0
MKI67	4288	broad.mit.edu	37	10	129906300	129906300	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:129906300T>C	uc001lke.3	-	12	3999	c.3804A>G	c.(3802-3804)cgA>cgG	p.R1268R	MKI67_uc001lkf.3_Silent_p.R908R|MKI67_uc009yav.1_Silent_p.R843R|MKI67_uc009yaw.1_Silent_p.R418R	NM_002417	NP_002408	P46013	KI67_HUMAN	Homo sapiens antigen identified by monoclonal antibody Ki-67 (MKI67), transcript variant 1, mRNA.	1268	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	p.R1268Q(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TTCTCTTGGGTCGTTGCTTTG	0.502000														161			18		0	0	1	0	0
SFMBT1	51460	broad.mit.edu	37	3	52946575	52946575	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52946575C>T	uc003dgf.3	-	16	2332	c.1709G>A	c.(1708-1710)tGt>tAt	p.C570Y	SFMBT1_uc010hmr.3_Missense_Mutation_p.C517Y|SFMBT1_uc003dgg.3_Missense_Mutation_p.C570Y|SFMBT1_uc003dgh.3_Missense_Mutation_p.C570Y	NM_001005159	NP_057413	Q9UHJ3	SMBT1_HUMAN	Homo sapiens Scm-like with four mbt domains 1 (SFMBT1), transcript variant 1, mRNA.	570					regulation of transcription, DNA-dependent	nucleus				breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	24				BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)		GACTTCCCCACATCCGTGCCA	0.478000														40			21		0	0	1	0	0
RHOF	54509	broad.mit.edu	37	12	122217535	122217535	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:122217535G>A	uc001ubb.3	-	4	560	c.505C>T	c.(505-507)Ctc>Ttc	p.L169F	TMEM120B_uc001ubc.4_3'UTR|TMEM120B_uc009zxh.3_3'UTR|TMEM120B_uc001uba.1_Intron	NM_019034	NP_061907	Q9HBH0	RHOF_HUMAN	Homo sapiens ras homolog gene family, member F (in filopodia) (RHOF), mRNA.	169					actin filament organization|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|plasma membrane	GTP binding|GTPase activity			large_intestine(1)|lung(1)|ovary(1)	3	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;4.38e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.223)		TCCAGGTAGAGAGCAGCTCGG	0.642000														62			21		0	0	1	0	0
PGM2	55276	broad.mit.edu	37	4	37857286	37857286	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:37857286G>A	uc011byb.1	+	12	1733	c.1660G>A	c.(1660-1662)Gtg>Atg	p.V554M	PGM2_uc011byc.1_Missense_Mutation_p.V394M	NM_018290	NP_060760	Q96G03	PGM2_HUMAN	Homo sapiens phosphoglucomutase 2 (PGM2), mRNA.	554					glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity|phosphopentomutase activity			breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	19						TAATGGAGGCGTGGCCACCAT	0.468000														40			5		0	0	1	0	0
ERN1	2081	broad.mit.edu	37	17	62122804	62122804	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:62122804G>A	uc002jdz.2	-	19	2681	c.2568C>T	c.(2566-2568)ggC>ggT	p.G856G		NM_001433	NP_001424	O75460	ERN1_HUMAN	Homo sapiens endoplasmic reticulum to nucleus signaling 1 (ERN1), mRNA.	856	KEN.				activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to endoplasmic reticulum membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						TCACGATCGGGCCATCCAGGG	0.562000														31			9		0	0	1	0	0
IGSF9	57549	broad.mit.edu	37	1	159897171	159897171	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:159897171C>T	uc001fur.2	-	20	3702	c.3504G>A	c.(3502-3504)caG>caA	p.Q1168Q	IGSF9_uc001fuq.2_Silent_p.Q1152Q|TAGLN2_uc001fun.1_5'Flank|TAGLN2_uc010piy.1_5'Flank|IGSF9_uc001fup.2_Silent_p.Q314Q	NM_001135050	NP_001128522	Q9P2J2	TUTLA_HUMAN	Homo sapiens immunoglobulin superfamily, member 9 (IGSF9), transcript variant 1, mRNA.	1168						cell junction|integral to membrane|synapse				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			GGGGGACTGGCTGTCGATAGG	0.622000														34			44		0	0	1	0	0
MAGEE2	139599	broad.mit.edu	37	X	75003402	75003402	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:75003402C>T	uc004ecj.2	-	0	1678	c.1485G>A	c.(1483-1485)tgG>tgA	p.W495*		NM_138703	NP_619648	Q8TD90	MAGE2_HUMAN	Homo sapiens melanoma antigen family E, 2 (MAGEE2), mRNA.	495	MAGE 2.									autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						ATTGTTCTGGCCAGTTCTGTG	0.478000														63			7		0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94155141	94155141	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:94155141G>A	uc001ybv.1	+	42	6775	c.6692G>A	c.(6691-6693)cGc>cAc	p.R2231H	UNC79_uc001ybs.1_Missense_Mutation_p.R2209H	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA.	2386						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						GCTGTGATCCGCTATCTGCCT	0.527000														35			31		0	0	1	0	0
SPRED1	161742	broad.mit.edu	37	15	38643407	38643407	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:38643407C>T	uc001zka.4	+	6	1212	c.877C>T	c.(877-879)Ctg>Ttg	p.L293L		NM_152594	NP_689807	Q7Z699	SPRE1_HUMAN	Homo sapiens sprouty-related, EVH1 domain containing 1 (SPRED1), mRNA.	293					inactivation of MAPK activity|multicellular organismal development	caveola|nucleus	stem cell factor receptor binding			kidney(6)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(109;4.88e-13)|all_epithelial(112;1.83e-11)|Lung NSC(122;2.21e-09)|all_lung(180;4.64e-08)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(113;2.41e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		ATCAGACTATCTGTACTCTTG	0.378000									Legius syndrome					39			27		0	0	1	0	0
CLEC4F	165530	broad.mit.edu	37	2	71043260	71043260	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:71043260C>A	uc002shf.3	-	3	1330	c.1253G>T	c.(1252-1254)aGt>aTt	p.S418I	CLEC4F_uc010yqv.1_Missense_Mutation_p.S418I	NM_173535	NP_775806	Q8N1N0	CLC4F_HUMAN	Homo sapiens C-type lectin domain family 4, member F (CLEC4F), mRNA.	418					endocytosis	integral to membrane	receptor activity|sugar binding			endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						GATCTCGGCACTGGCCTTCTG	0.498000														46			4		1	1	1	1	0
SEC16B	89866	broad.mit.edu	37	1	177911069	177911069	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:177911069C>A	uc001glj.1	-	20	2857	c.1991G>T	c.(1990-1992)aGc>aTc	p.S664I	SEC16B_uc001glk.1_Missense_Mutation_p.S340I|SEC16B_uc009wwy.1_Missense_Mutation_p.S218I|SEC16B_uc001glh.1_Missense_Mutation_p.S322I|SEC16B_uc001gli.1_Missense_Mutation_p.S663I|SEC16B_uc009wwz.1_Missense_Mutation_p.S322I	NM_033127	NP_149118	Q96JE7	SC16B_HUMAN	Homo sapiens SEC16 homolog B (S. cerevisiae) (SEC16B), mRNA.	663					protein transport|vesicle-mediated transport	Golgi membrane|endoplasmic reticulum membrane				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						AGGGTGACTGCTCTCTCCCTG	0.498000														58			21		7.41877e-09	8.75093e-09	1	1	0
FAM135A	57579	broad.mit.edu	37	6	71234659	71234659	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:71234659T>C	uc003pfj.3	+	12	2005	c.1872T>C	c.(1870-1872)gaT>gaC	p.D624D	FAM135A_uc003pfi.3_Silent_p.D428D|FAM135A_uc003pfh.3_Silent_p.D411D|FAM135A_uc003pfl.3_Silent_p.D291D|FAM135A_uc003pfn.3_Silent_p.D54D|FAM135A_uc003pfo.1_5'UTR	NM_001162529	NP_001156001	Q9P2D6	F135A_HUMAN	Homo sapiens family with sequence similarity 135, member A (FAM135A), transcript variant 3, mRNA.	624										breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						CCCAGGACGATAGTGAAATTA	0.398000														39			18		0	0	1	0	0
GTF3C5	9328	broad.mit.edu	37	9	135929816	135929816	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:135929816C>T	uc004ccj.4	+	6	1347	c.1010C>T	c.(1009-1011)cCg>cTg	p.P337L	GTF3C5_uc010mzz.2_Missense_Mutation_p.P212L|GTF3C5_uc004cci.4_Missense_Mutation_p.P337L	NM_001122823	NP_001116295	Q9Y5Q8	TF3C5_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 5, 63kDa (GTF3C5), transcript variant 1, mRNA.	337						transcription factor TFIIIC complex	DNA binding|protein binding			endometrium(5)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;4.01e-06)|Epithelial(140;4e-05)		AGTGACTTGCCGGTCAAAGCA	0.597000														11			7		0	0	1	0	0
ST3GAL6	10402	broad.mit.edu	37	3	98506939	98506939	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:98506939G>A	uc003dtc.3	+	7	958	c.491G>A	c.(490-492)cGa>cAa	p.R164Q	ST3GAL6_uc003dsy.3_Missense_Mutation_p.R78Q|ST3GAL6_uc003dsz.3_Missense_Mutation_p.R164Q|ST3GAL6_uc003dta.3_Missense_Mutation_p.R46Q|ST3GAL6_uc010hpd.3_Missense_Mutation_p.R217Q	NM_006100	NP_006091	Q9Y274	SIA10_HUMAN	Homo sapiens ST3 beta-galactoside alpha-2,3-sialyltransferase 6 (ST3GAL6), mRNA.	164					amino sugar metabolic process|glycolipid metabolic process|protein glycosylation|protein lipoylation	integral to Golgi membrane	sialyltransferase activity			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(1)	19						ACAACCTTCCGACTTTTTTAT	0.383000														32			15		0	0	1	0	0
ELK1	2002	broad.mit.edu	37	X	47496428	47496428	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:47496428G>T	uc004dik.4	-	5	1494	c.1172C>A	c.(1171-1173)gCc>gAc	p.A391D	ELK1_uc010nhv.3_Missense_Mutation_p.A391D|ELK1_uc010nhw.3_Missense_Mutation_p.A281D|ELK1_uc004dil.4_Non-coding_Transcript	NM_001114123	NP_005220	P19419	ELK1_HUMAN	Homo sapiens ELK1, member of ETS oncogene family (ELK1), transcript variant 1, mRNA.	391	Sufficient for interaction with MAD2L2.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|skin(2)	10						GGAGAGCTTGGCCGGGCTACG	0.612000														14			6		0.0293803	0.0299714	1	1	0
NUP43	348995	broad.mit.edu	37	6	150059820	150059820	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:150059820A>C	uc003qmz.3	-	4	654	c.597T>G	c.(595-597)gaT>gaG	p.D199E	NUP43_uc003qmx.4_5'Flank|NUP43_uc011eef.1_Intron	NM_198887	NP_942590	Q8NFH3	NUP43_HUMAN	Homo sapiens nucleoporin 43kDa (NUP43), transcript variant 1, mRNA.	199					carbohydrate metabolic process|cell division|chromosome segregation|glucose transport|mRNA transport|mitotic prometaphase|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	Nup107-160 complex|condensed chromosome kinetochore|cytosol	protein binding			breast(1)|large_intestine(2)|lung(8)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;4.71e-13)|GBM - Glioblastoma multiforme(68;0.101)		GTTGTCTGAAATCCCATATTT	0.338000														63			11		0	0	1	0	0
ACSBG2	81616	broad.mit.edu	37	19	6183213	6183213	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:6183213G>A	uc002mef.1	+	9	1479	c.1252G>A	c.(1252-1254)Gag>Aag	p.E418K	ACSBG2_uc002mee.1_Missense_Mutation_p.E231K|ACSBG2_uc002meg.1_Missense_Mutation_p.E418K|ACSBG2_uc002meh.1_Missense_Mutation_p.E418K|ACSBG2_uc002mei.1_Missense_Mutation_p.E368K|ACSBG2_uc010xiz.1_Missense_Mutation_p.E418K	NM_030924	NP_112186	Q5FVE4	ACBG2_HUMAN	Homo sapiens acyl-CoA synthetase bubblegum family member 2 (ACSBG2), mRNA.	418					cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis	membrane|microsome|mitochondrion	ATP binding|acyl-CoA thioesterase activity|long-chain fatty acid-CoA ligase activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ACCTATAGGCGAGTTGTATGG	0.537000														44			18		0	0	1	0	0
FAM65C	140876	broad.mit.edu	37	20	49247380	49247380	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:49247380G>A	uc010zyt.2	-	1	268	c.17C>T	c.(16-18)tCg>tTg	p.S6L	FAM65C_uc010zyu.1_Non-coding_Transcript|FAM65C_uc002xvm.3_Missense_Mutation_p.S2L|FAM65C_uc002xvn.1_Missense_Mutation_p.S2L	NM_080829	NP_543019	Q96MK2	FA65C_HUMAN	Homo sapiens family with sequence similarity 65, member C (FAM65C), mRNA.	2										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CAACCTCACCGACATGGTGGT	0.662000														7			4		0	0	1	0	0
PDCD11	22984	broad.mit.edu	37	10	105185237	105185237	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:105185237C>T	uc001kwy.1	+	19	3347	c.3260C>T	c.(3259-3261)aCg>aTg	p.T1087M		NM_014976	NP_055791	Q14690	RRP5_HUMAN	Homo sapiens programmed cell death 11 (PDCD11), mRNA.	1087	S1 motif 9.				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		GTTGGGAAGACGGTCACTGCC	0.532000														15			10		0	0	1	0	0
NUDT14	256281	broad.mit.edu	37	14	105643109	105643109	+	Splice_Site	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:105643109C>A	uc010tyn.2	-	4	305	c.191_splice	c.e4-1	p.A64_splice	NUDT14_uc001yqi.3_Splice_Site	NM_177533	NP_803877	O95848	NUD14_HUMAN	Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 14 (NUDT14), mRNA.	64	Nudix hydrolase.					cytoplasm	UDP-sugar diphosphatase activity|metal ion binding|protein binding			cervix(2)|endometrium(1)|lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	14		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		GCATACACAGCTGCGTGGGAA	0.677000										HNSCC(42;0.11)				45			7		2.0095e-06	2.27092e-06	1	1	0
ADCY10	55811	broad.mit.edu	37	1	167825527	167825527	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:167825527C>T	uc001ger.3	-	16	2345	c.2047G>A	c.(2047-2049)Gcc>Acc	p.A683T	ADCY10_uc010plj.2_Missense_Mutation_p.A530T|ADCY10_uc009wvk.3_Missense_Mutation_p.A591T|ADCY10_uc009wvl.3_Missense_Mutation_p.A682T	NM_018417	NP_001161221	Q96PN6	ADCYA_HUMAN	Homo sapiens adenylate cyclase 10 (soluble) (ADCY10), transcript variant 1, mRNA.	683					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	ATP binding|adenylate cyclase activity|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						ACGGCCCTGGCAGCTGCACAG	0.473000														100			79		0	0	1	0	0
TCF20	6942	broad.mit.edu	37	22	42609038	42609038	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:42609038C>A	uc003bcj.1	-	0	2408	c.2274G>T	c.(2272-2274)caG>caT	p.Q758H	TCF20_uc003bck.1_Missense_Mutation_p.Q758H	NM_005650	NP_005641	Q9UGU0	TCF20_HUMAN	Homo sapiens transcription factor 20 (AR1) (TCF20), transcript variant 1, mRNA.	758					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						GGTGGTAACCCTGAAGCACTT	0.507000														30			20		8.34094e-07	9.49533e-07	1	1	0
COASY	80347	broad.mit.edu	37	17	40714858	40714858	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:40714858C>A	uc010cyj.3	+	2	507	c.305C>A	c.(304-306)gCt>gAt	p.A102D	COASY_uc002hzz.3_Missense_Mutation_p.A73D|COASY_uc002iab.3_Intron|COASY_uc002iad.3_Missense_Mutation_p.A73D|COASY_uc002iac.3_Missense_Mutation_p.A73D|COASY_uc002iae.3_5'Flank	NM_001042532	NP_079509	Q13057	COASY_HUMAN	Homo sapiens CoA synthase (COASY), nuclear gene encoding mitochondrial protein, transcript variant 4, mRNA.	73					coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial outer membrane	ATP binding|dephospho-CoA kinase activity|pantetheine-phosphate adenylyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	21		all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)		CACCTCTATGCTGGCGCCGAC	0.607000														75			46		8.20599e-20	1.05717e-19	1	1	0
RCAN1	1827	broad.mit.edu	37	21	35890511	35890511	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:35890511G>A	uc002yue.3	-	3	702	c.630C>T	c.(628-630)agC>agT	p.S210S	RCAN1_uc002yuc.3_Silent_p.S129S|RCAN1_uc002yud.3_Silent_p.S75S|RCAN1_uc002yub.3_Silent_p.S155S	NM_004414	NP_004405	P53805	RCAN1_HUMAN	Homo sapiens regulator of calcineurin 1 (RCAN1), transcript variant 1, mRNA.	210					blood circulation|calcium-mediated signaling|central nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|kidney(1)|large_intestine(1)|lung(2)	5						GGACCACCACGCTGGGAGTGG	0.488000														37			21		0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	145004373	145004373	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:145004373C>T	uc003zaf.1	-	20	3132	c.2962G>A	c.(2962-2964)Gtg>Atg	p.V988M	PLEC_uc003zab.1_Missense_Mutation_p.V851M|PLEC_uc003zac.1_Missense_Mutation_p.V855M|PLEC_uc003zad.2_Missense_Mutation_p.V851M|PLEC_uc003zae.1_Missense_Mutation_p.V819M|PLEC_uc003zag.1_Missense_Mutation_p.V829M|PLEC_uc003zah.2_Missense_Mutation_p.V837M|PLEC_uc003zaj.2_Missense_Mutation_p.V878M	NM_201380	NP_958782	Q15149	PLEC_HUMAN	Homo sapiens plectin (PLEC), transcript variant 6, mRNA.	988	Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						ACGGAGGGCACGGCGGCCTCG	0.716000														4			6		0	0	1	0	0
FAM123B	139285	broad.mit.edu	37	X	63410130	63410130	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:63410130G>T	uc022byb.1	-	0	3037	c.3037C>A	c.(3037-3039)Cct>Act	p.P1013T	FAM123B_uc004dvo.3_Missense_Mutation_p.P1013T	NM_152424	NP_689637	Q5JTC6	F123B_HUMAN	Homo sapiens family with sequence similarity 123B (FAM123B), mRNA.	1013	Pro-rich.				Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane		p.0?(67)		NS(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(132)|large_intestine(35)|liver(1)|lung(33)|ovary(5)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	225						GATTCCCCAGGTGCCCTTGAC	0.567000														17			14		1.05317e-09	1.25904e-09	1	1	0
DIAPH3	81624	broad.mit.edu	37	13	60565313	60565313	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:60565313A>G	uc001vht.3	-	11	1559	c.1340T>C	c.(1339-1341)aTt>aCt	p.I447T	DIAPH3_uc001vhu.3_Missense_Mutation_p.I184T|DIAPH3_uc001vhv.3_Missense_Mutation_p.I25T	NM_001042517	NP_001035982	Q9NSV4	DIAP3_HUMAN	Homo sapiens diaphanous homolog 3 (Drosophila) (DIAPH3), transcript variant 1, mRNA.	447	GBD/FH3.				actin cytoskeleton organization		Rho GTPase binding|actin binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		ATCATTTCGAATCAGCAAAAG	0.303000														24			17		0	0	1	0	0
PHKA2	5256	broad.mit.edu	37	X	18912469	18912469	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:18912469G>A	uc004cyv.4	-	31	3820	c.3390C>T	c.(3388-3390)cgC>cgT	p.R1130R	LOC100132163_uc004cyt.3_Non-coding_Transcript|PHKA2_uc010nfe.1_Silent_p.R162R|PHKA2_uc010nff.1_Non-coding_Transcript	NM_000292	NP_000283	P46019	KPB2_HUMAN	Homo sapiens phosphorylase kinase, alpha 2 (liver) (PHKA2), mRNA.	1130					glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity	p.N1129K(1)|p.R1130C(1)		NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					GCTGCGGCACGCGGTTCAGCA	0.602000														45			25		0	0	1	0	0
MAN2C1	4123	broad.mit.edu	37	15	75652465	75652465	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:75652465G>T	uc002bah.3	-	13	1689	c.1672C>A	c.(1672-1674)Cta>Ata	p.L558I	MAN2C1_uc010bkk.3_Missense_Mutation_p.L459I|MAN2C1_uc002baf.3_Missense_Mutation_p.L558I|MAN2C1_uc002bag.3_Missense_Mutation_p.L558I|MAN2C1_uc010umi.1_Missense_Mutation_p.L340I			Q9NTJ4	MA2C1_HUMAN	Homo sapiens mannosidase, alpha, class 2C, member 1 (MAN2C1), mRNA.	558					mannose metabolic process		alpha-mannosidase activity|carbohydrate binding|protein binding|zinc ion binding			central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	44						GCTGGGTATAGGAACTGGGCA	0.622000														151			12		4.3838e-07	5.01911e-07	1	1	0
TRMT1L	81627	broad.mit.edu	37	1	185089377	185089377	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:185089377G>T	uc001grf.4	-	14	2248	c.1976C>A	c.(1975-1977)tCt>tAt	p.S659Y	TRMT1L_uc010pon.2_Missense_Mutation_p.S503Y	NM_030934	NP_001189352	Q7Z2T5	TRM1L_HUMAN	Homo sapiens TRM1 tRNA methyltransferase 1-like (TRMT1L), transcript variant 1, mRNA.	659						intracellular	RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	21						GCCTGCTTGAGATAAATAGCA	0.323000														167			14		1.5842e-08	1.86177e-08	1	1	0
CCK	885	broad.mit.edu	37	3	42305084	42305084	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:42305084T>C	uc021wwk.1	-	1	166	c.39A>G	c.(37-39)gtA>gtG	p.V13V	CCK_uc003cld.1_Silent_p.V13V|CCK_uc011azk.1_Silent_p.V13V	NM_001174138	NP_001167609	P06307	CCKN_HUMAN	Homo sapiens cholecystokinin (CCK), transcript variant 2, mRNA.	13					axonogenesis|eating behavior|neuron migration		neuropeptide hormone activity			central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1)	6		Ovarian(412;0.0728)		KIRC - Kidney renal clear cell carcinoma(284;0.219)		CAGCCGCCAGTACCGCCATCA	0.687000														6			10		0	0	1	0	0
SOS2	6655	broad.mit.edu	37	14	50626689	50626689	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:50626689A>G	uc001wxs.4	-	9	1410	c.1312T>C	c.(1312-1314)Tgt>Cgt	p.C438R	SOS2_uc010tql.2_Missense_Mutation_p.C405R|SOS2_uc010tqm.1_Non-coding_Transcript|SOS2_uc001wxt.2_Missense_Mutation_p.C126R	NM_006939	NP_008870	Q07890	SOS2_HUMAN	Homo sapiens son of sevenless homolog 2 (Drosophila) (SOS2), mRNA.	438					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|Rho guanyl-nucleotide exchange factor activity|protein binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					TCATTACAACACTGTCCAATA	0.353000														154			7		0	0	1	0	0
PAG1	55824	broad.mit.edu	37	8	81899628	81899628	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:81899628T>G	uc003ybz.3	-	5	962	c.251A>C	c.(250-252)aAt>aCt	p.N84T		NM_018440	NP_060910	Q9NWQ8	PAG1_HUMAN	Homo sapiens phosphoprotein associated with glycosphingolipid microdomains 1 (PAG1), mRNA.	84					T cell receptor signaling pathway|epidermal growth factor receptor signaling pathway|intracellular signal transduction	integral to membrane|intracellular|membrane raft|plasma membrane	SH2 domain binding|SH3/SH2 adaptor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(2)	11	Lung NSC(7;5.76e-06)|all_lung(9;2e-05)		BRCA - Breast invasive adenocarcinoma(6;0.0567)|Epithelial(68;0.0634)|all cancers(69;0.197)			GAGTGCCCCATTCTGCTCACT	0.463000														43			5		0	0	1	0	0
DACT1	51339	broad.mit.edu	37	14	59112616	59112616	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:59112616C>T	uc001xdw.3	+	3	1439	c.1275C>T	c.(1273-1275)gcC>gcT	p.A425A	DACT1_uc010trv.2_Silent_p.A144A|DACT1_uc001xdx.3_Silent_p.A388A|DACT1_uc010trw.2_Silent_p.A144A	NM_016651	NP_057735	Q9NYF0	DACT1_HUMAN	Homo sapiens dapper, antagonist of beta-catenin, homolog 1 (Xenopus laevis) (DACT1), transcript variant 1, mRNA.	425					Wnt receptor signaling pathway|multicellular organismal development	cytoplasm|nucleus				endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						AATCAAAGGCCGAACAAGCCG	0.572000														29			13		0	0	1	0	0
TBL1XR1	79718	broad.mit.edu	37	3	176752029	176752029	+	Nonsense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:176752029C>A	uc003fiw.4	-	12	1467	c.1207G>T	c.(1207-1209)Gga>Tga	p.G403*	TBL1XR1_uc003fix.4_Nonsense_Mutation_p.G403*|TBL1XR1_uc011bpz.2_Nonsense_Mutation_p.G75*	NM_024665	NP_078941	Q9BZK7	TBL1R_HUMAN	Homo sapiens transducin (beta)-like 1 X-linked receptor 1 (TBL1XR1), mRNA.	403					canonical Wnt receptor signaling pathway|cellular lipid metabolic process|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|transcription, DNA-dependent	spindle microtubule|transcriptional repressor complex	beta-catenin binding|histone binding|protein N-terminus binding|transcription corepressor activity|transcription regulatory region DNA binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(143;1.44e-17)|Ovarian(172;0.00163)|Breast(254;0.214)	Acute lymphoblastic leukemia(1;0.00599)|all_hematologic(1;0.0632)|Prostate(884;0.215)	OV - Ovarian serous cystadenocarcinoma(80;9.83e-31)			GTCCCTGGTCCTGTTGGACTC	0.328000														50			8		0.00307968	0.00322291	1	1	0
BMX	660	broad.mit.edu	37	X	15527469	15527469	+	Missense_Mutation	SNP	A	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:15527469A>T	uc004cww.3	+	2	344	c.156A>T	c.(154-156)aaA>aaT	p.K52N	BMX_uc004cwx.4_Missense_Mutation_p.K52N|BMX_uc004cwy.4_Missense_Mutation_p.K52N	NM_203281	NP_975010	P51813	BMX_HUMAN	Homo sapiens BMX non-receptor tyrosine kinase (BMX), transcript variant 1, mRNA.	52	PH.				cellular component disassembly involved in apoptosis|intracellular signal transduction|mesoderm development	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3)	30	Hepatocellular(33;0.183)					GCAGCAGAAAAGGATCCATTG	0.403000														22			6		0	0	1	0	0
KDM2B	84678	broad.mit.edu	37	12	121877673	121877673	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:121877673C>A	uc001uat.3	-	21	3920	c.3816G>T	c.(3814-3816)gaG>gaT	p.E1272D	KDM2B_uc010szy.2_Missense_Mutation_p.E712D|KDM2B_uc001uaq.3_Missense_Mutation_p.E712D|KDM2B_uc001uar.3_Missense_Mutation_p.E863D|KDM2B_uc001uas.3_Missense_Mutation_p.E1203D|KDM2B_uc021rfd.1_Missense_Mutation_p.E1203D|KDM2B_uc001uau.3_Intron|KDM2B_uc021rfe.1_Missense_Mutation_p.E1272D|KDM2B_uc001uao.3_Missense_Mutation_p.E520D|KDM2B_uc010szx.2_Missense_Mutation_p.E520D|KDM2B_uc001uap.3_Non-coding_Transcript	NM_032590	NP_115979	Q8NHM5	KDM2B_HUMAN	Homo sapiens lysine (K)-specific demethylase 2B (KDM2B), transcript variant 1, mRNA.	1272					embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						ACAGGTTGATCTCGGTTAAGG	0.547000														16			13		0.000219431	0.000236831	1	1	0
KEL	3792	broad.mit.edu	37	7	142640600	142640600	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:142640600G>A	uc003wcb.3	-	14	1886	c.1676C>T	c.(1675-1677)cCc>cTc	p.P559L		NM_000420	NP_000411	P23276	KELL_HUMAN	Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA.	559					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					GAAGAATGGGGGTTGGAGGAG	0.537000														26			31		0	0	1	0	0
EARS2	124454	broad.mit.edu	37	16	23546566	23546566	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:23546566G>T	uc002dlu.3	-	3	633	c.601C>A	c.(601-603)Ctg>Atg	p.L201M	EARS2_uc002dlr.4_Non-coding_Transcript|EARS2_uc002dls.4_Non-coding_Transcript|EARS2_uc002dlt.4_Missense_Mutation_p.L201M	NM_001083614	NP_001077083	Q5JPH6	SYEM_HUMAN	Homo sapiens glutamyl-tRNA synthetase 2, mitochondrial (putative) (EARS2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	201					glutamyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|RNA binding|glutamate-tRNA ligase activity	p.D200N(1)		central_nervous_system(1)|endometrium(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	8				GBM - Glioblastoma multiforme(48;0.0353)	L-Glutamic Acid(DB00142)	CCATAGACCAGGTCCTGGAAG	0.627000														54			5		1.23904e-05	1.3743e-05	1	1	0
ZNF782	158431	broad.mit.edu	37	9	99581760	99581760	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:99581760G>T	uc004awp.1	-	5	826	c.545C>A	c.(544-546)aCt>aAt	p.T182N	ZNF782_uc011lup.1_Missense_Mutation_p.T50N	NM_001001662	NP_001001662	Q6ZMW2	ZN782_HUMAN	Homo sapiens zinc finger protein 782 (ZNF782), mRNA.	182					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)	33		Acute lymphoblastic leukemia(62;0.0527)				TTTCTCTTGAGTGTTAGTTCT	0.398000														75			7		0.000157383	0.000170012	1	1	0
AQP4	361	broad.mit.edu	37	18	24436260	24436260	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:24436260G>T	uc002kwa.3	-	4	950	c.887C>A	c.(886-888)cCt>cAt	p.P296H	AQP4_uc002kvz.3_Missense_Mutation_p.P274H	NM_001650	NP_001641	P55087	AQP4_HUMAN	Homo sapiens aquaporin 4 (AQP4), transcript variant a, mRNA.	296				P -> L (in Ref. 1; AAC52112).	cellular response to interferon-gamma|excretion|nervous system development	cytoplasm|external side of plasma membrane|integral to plasma membrane	water channel activity			kidney(2)|large_intestine(3)|lung(5)|skin(1)	11	all_cancers(21;0.0172)|Lung NSC(5;0.00299)|all_lung(6;0.00747)|Ovarian(20;0.124)					CACCACTCCAGGTTTTAGAAT	0.488000														196			22		2.89027e-11	3.52362e-11	1	1	0
GABBR1	2550	broad.mit.edu	37	6	29591181	29591181	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:29591181T>C	uc003nmt.4	-	7	1200	c.864A>G	c.(862-864)ccA>ccG	p.P288P	GABBR1_uc003nmp.4_Silent_p.P171P|GABBR1_uc003nms.4_Silent_p.P171P|GABBR1_uc003nmu.4_Silent_p.P226P|GABBR1_uc011dlr.2_Silent_p.P111P|GABBR1_uc011dls.1_Silent_p.P288P	NM_001470	NP_001461	Q9UBS5	GABR1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) B receptor, 1 (GABBR1), transcript variant 1, mRNA.	288					gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity			endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)	GTGTGGCTGATGGGTGCGTTC	0.562000														21			9		0	0	1	0	0
PHF13	148479	broad.mit.edu	37	1	6681484	6681484	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:6681484G>A	uc001aob.4	+	3	1061	c.690G>A	c.(688-690)tgG>tgA	p.W230*		NM_153812	NP_722519	Q86YI8	PHF13_HUMAN	Homo sapiens PHD finger protein 13 (PHF13), mRNA.	230					cell division|chromatin modification|mitotic chromosome condensation	nucleoplasm	chromatin binding|methylated histone residue binding|zinc ion binding			endometrium(3)|large_intestine(1)|lung(3)	7	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;1.46e-33)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.19e-07)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|STAD - Stomach adenocarcinoma(132;0.0165)|READ - Rectum adenocarcinoma(331;0.0642)		ACGATTCCTGGGACCTCGTGA	0.517000														23			8		0	0	1	0	0
PLCG2	5336	broad.mit.edu	37	16	81954830	81954830	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:81954830G>A	uc002fgt.3	+	20	2441	c.2263G>A	c.(2263-2265)Gtc>Atc	p.V755I	PLCG2_uc010chg.1_Missense_Mutation_p.V755I	NM_002661	NP_002652	P16885	PLCG2_HUMAN	Homo sapiens phospholipase C, gamma 2 (phosphatidylinositol-specific) (PLCG2), mRNA.	755					intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						CCTCTACGACGTCAGCAGAAT	0.428000														44			21		0	0	1	0	0
OR56A4	120793	broad.mit.edu	37	11	6023843	6023843	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6023843A>G	uc010qzv.2	-	0	536	c.536T>C	c.(535-537)gTg>gCg	p.V179A		NM_001005179	NP_001005179	Q8NGH8	O56A4_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily A, member 4 (OR56A4), mRNA.	127					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCAGATGGCCACATAACGGTC	0.493000														15			10		0	0	1	0	0
RDX	5962	broad.mit.edu	37	11	110128576	110128576	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:110128576T>C	uc009yxy.3	-	6	924	c.614A>G	c.(613-615)tAt>tGt	p.Y205C	RDX_uc009yxx.1_Non-coding_Transcript|RDX_uc009yxz.3_Intron|RDX_uc009yya.3_Intron|RDX_uc001pku.3_Missense_Mutation_p.Y205C|RDX_uc010rwe.2_Missense_Mutation_p.Y69C	NM_002906	NP_002897	P35241	RADI_HUMAN	Homo sapiens radixin (RDX), mRNA.	205	FERM.				actin filament capping	Golgi apparatus|cleavage furrow|cytoskeleton|extrinsic to membrane|nucleolus|plasma membrane	actin binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	18		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)		TATTTCAAAATAGTTGACTCC	0.313000														80			5		0	0	1	0	0
KIAA1257	57501	broad.mit.edu	37	3	128706483	128706483	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:128706483C>T	uc003elj.4	-	3	839	c.643G>A	c.(643-645)Gac>Aac	p.D215N	KIAA1257_uc003elg.1_Missense_Mutation_p.D215N|KIAA1257_uc003eli.4_Missense_Mutation_p.D103N	NM_020741	NP_065792	Q9ULG3	K1257_HUMAN	Homo sapiens KIAA1257 (KIAA1257), mRNA.	215										breast(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(2)	14						GCTCCCACGTCGTCTGTGAAG	0.423000														44			25		0	0	1	0	0
LRRK2	120892	broad.mit.edu	37	12	40681204	40681204	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:40681204C>A	uc001rmg.4	+	19	2673	c.2552C>A	c.(2551-2553)gCt>gAt	p.A851D	LRRK2_uc001rmh.1_Missense_Mutation_p.A473D	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	Homo sapiens leucine-rich repeat kinase 2 (LRRK2), mRNA.	851					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				ATGAAAAGTGCTGTGGAAGAA	0.378000														21			12		2.27111e-07	2.61452e-07	1	1	0
ZFP91	80829	broad.mit.edu	37	11	58380261	58380261	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:58380261G>A	uc001nmx.4	+	7	1103	c.935G>A	c.(934-936)cGt>cAt	p.R312H	ZFP91_uc001nmy.4_Missense_Mutation_p.R311H|CNTF_uc010rkm.2_Non-coding_Transcript	NM_053023	NP_444251	Q96JP5	ZFP91_HUMAN	Homo sapiens zinc finger protein 91 homolog (mouse) (ZFP91), transcript variant 1, mRNA.	312					activation of NF-kappaB-inducing kinase activity|protein K63-linked ubiquitination	nucleus	nucleic acid binding|ubiquitin-protein ligase activity|zinc ion binding	p.R312S(1)		cervix(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				CAGTATGTCCGTTGTGAGATG	0.403000														117			10		0	0	1	0	0
MAP3K15	389840	broad.mit.edu	37	X	19389624	19389624	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:19389624C>T	uc022btq.1	-	22	3133	c.3133G>A	c.(3133-3135)Gtt>Att	p.V1045I	MAP3K15_uc004czj.2_Missense_Mutation_p.V480I|MAP3K15_uc004czk.2_Missense_Mutation_p.V520I|MAP3K15_uc004czi.2_5'UTR	NM_001001671	NP_001001671	Q6ZN16	M3K15_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 15 (MAP3K15), mRNA.	1045							ATP binding|MAP kinase kinase kinase activity|metal ion binding			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					ATGTGTCCAACTGAGAGATGC	0.483000														93			7		0	0	1	0	0
SETD3	84193	broad.mit.edu	37	14	99927652	99927652	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:99927652T>G	uc001ygc.3	-	3	392	c.222A>C	c.(220-222)aaA>aaC	p.K74N	SETD3_uc001ygd.3_Missense_Mutation_p.K74N|SETD3_uc021sbn.1_Missense_Mutation_p.K74N|SETD3_uc001ygf.3_Missense_Mutation_p.K74N	NM_032233	NP_115609	Q86TU7	SETD3_HUMAN	Homo sapiens SET domain containing 3 (SETD3), transcript variant 1, mRNA.	74					peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|peptidyl-lysine trimethylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone methyltransferase activity (H3-K36 specific)|transcription coactivator activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25		all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866)				AATCTTCTCTTTTTCCATCAA	0.373000														67			44		0	0	1	0	0
C20orf195	79025	broad.mit.edu	37	20	62187487	62187487	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:62187487G>A	uc002yfj.3	+	1	563	c.471G>A	c.(469-471)gcG>gcA	p.A157A	C20orf195_uc021wgc.1_Silent_p.A157A	NM_024059	NP_076964	Q9BVV2	CT195_HUMAN	Homo sapiens chromosome 20 open reading frame 195 (C20orf195), mRNA.	157										large_intestine(3)|lung(4)	7	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			CCGACTGGGCGCTGGTGGAGC	0.687000														11			9		0	0	1	0	0
FN1	2335	broad.mit.edu	37	2	216285518	216285518	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:216285518C>T	uc002vfa.3	-	10	1819	c.1553G>A	c.(1552-1554)tGc>tAc	p.C518Y	FN1_uc002vfc.3_Missense_Mutation_p.C518Y|FN1_uc002vfe.3_Missense_Mutation_p.C518Y|FN1_uc002vff.3_Missense_Mutation_p.C518Y|FN1_uc002vfg.3_Missense_Mutation_p.C518Y|FN1_uc002vfh.3_Missense_Mutation_p.C518Y|FN1_uc002vfi.3_Missense_Mutation_p.C518Y|FN1_uc002vfj.3_Missense_Mutation_p.C518Y|FN1_uc002vfb.3_Missense_Mutation_p.C518Y|FN1_uc002vfl.3_Missense_Mutation_p.C518Y	NM_212482	NP_997647	P02751	FINC_HUMAN	Homo sapiens fibronectin 1 (FN1), transcript variant 1, mRNA.	518	Collagen-binding.|Fibronectin type-I 8.			C -> R (in Ref. 4; CAD97791).	acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ATCAACAATGCACTGATCTGT	0.433000														32			19		0	0	1	0	0
VAV1	7409	broad.mit.edu	37	19	6829843	6829843	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:6829843G>A	uc002mfu.1	+	13	1409	c.1312G>A	c.(1312-1314)Gga>Aga	p.G438R	VAV1_uc010xjh.1_Missense_Mutation_p.G406R|VAV1_uc010dva.1_Missense_Mutation_p.G438R|VAV1_uc002mfv.1_Missense_Mutation_p.G383R	NM_005428	NP_005419	P15498	VAV_HUMAN	Homo sapiens vav 1 guanine nucleotide exchange factor (VAV1), mRNA.	438	PH.				T cell costimulation|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						TAAGCGCAGGGGAGACTCCTA	0.527000														92			8		0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	144999605	144999605	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:144999605G>A	uc003zaf.1	-	30	5073	c.4903C>T	c.(4903-4905)Cgc>Tgc	p.R1635C	PLEC_uc003zab.1_Missense_Mutation_p.R1498C|PLEC_uc003zac.1_Missense_Mutation_p.R1502C|PLEC_uc003zad.2_Missense_Mutation_p.R1498C|PLEC_uc003zae.1_Missense_Mutation_p.R1466C|PLEC_uc003zag.1_Missense_Mutation_p.R1476C|PLEC_uc003zah.2_Missense_Mutation_p.R1484C|PLEC_uc003zaj.2_Missense_Mutation_p.R1525C	NM_201380	NP_958782	Q15149	PLEC_HUMAN	Homo sapiens plectin (PLEC), transcript variant 6, mRNA.	1635	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CTCCGCAAGCGCTCGGCCTCC	0.731000														8			4		0	0	1	0	0
TMEM106C	79022	broad.mit.edu	37	12	48361031	48361031	+	Missense_Mutation	SNP	G	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:48361031G>C	uc001rqp.3	+	6	758	c.643G>C	c.(643-645)Gtg>Ctg	p.V215L	TMEM106C_uc001rqo.3_Missense_Mutation_p.V196L|TMEM106C_uc001rqr.3_Missense_Mutation_p.V215L|TMEM106C_uc001rqq.3_Missense_Mutation_p.V196L	NM_024056	NP_076961	Q9BVX2	T106C_HUMAN	Homo sapiens transmembrane protein 106C (TMEM106C), transcript variant 2, mRNA.	215						endoplasmic reticulum membrane|integral to membrane				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(3)|upper_aerodigestive_tract(1)	14		Acute lymphoblastic leukemia(13;0.11)		GBM - Glioblastoma multiforme(48;0.241)		GCACAACATAGTGATCTTCAT	0.498000														160			15		0	0	1	0	0
RALBP1	10928	broad.mit.edu	37	18	9522280	9522280	+	Nonsense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:9522280G>T	uc002kob.3	+	3	1049	c.826G>T	c.(826-828)Gag>Tag	p.E276*	RALBP1_uc002koc.3_Nonsense_Mutation_p.E276*	NM_006788	NP_006779	Q15311	RBP1_HUMAN	Homo sapiens ralA binding protein 1 (RALBP1), mRNA.	276	Rho-GAP.				chemotaxis|positive regulation of Cdc42 GTPase activity|small GTPase mediated signal transduction|transport	cytosol|membrane	ATPase activity, coupled to movement of substances|Rac GTPase activator activity|Rac GTPase binding|Ral GTPase binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	14						AGACCTTCCAGAGAATTTGCT	0.473000														53			7		0.000274275	0.000294507	1	1	0
MYO1C	4641	broad.mit.edu	37	17	1387545	1387545	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:1387545C>T	uc002fsp.3	-	1	348	c.128G>A	c.(127-129)cGt>cAt	p.R43H	MYO1C_uc002fsn.3_Missense_Mutation_p.R24H|MYO1C_uc002fso.3_Missense_Mutation_p.R8H|MYO1C_uc010vqj.1_Missense_Mutation_p.R8H|MYO1C_uc010vqk.1_Missense_Mutation_p.R19H	NM_001080779	NP_203693	O00159	MYO1C_HUMAN	Homo sapiens myosin IC (MYO1C), transcript variant 1, mRNA.	43	Myosin head-like.				mRNA transport|protein transport|transmembrane transport	basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CACCCGGTCACGGGCGGTGAG	0.647000														20			8		0	0	1	0	0
TECPR2	9895	broad.mit.edu	37	14	102894699	102894699	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:102894699C>A	uc001ylw.2	+	6	1290	c.1064C>A	c.(1063-1065)cCt>cAt	p.P355H	TECPR2_uc010awl.3_Missense_Mutation_p.P355H|TECPR2_uc010txx.2_Intron	NM_014844	NP_055659	O15040	TCPR2_HUMAN	Homo sapiens tectonin beta-propeller repeat containing 2 (TECPR2), transcript variant 1, mRNA.	355							protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						TCAAGCAGGCCTGAAGGATTA	0.328000														66			7		2.0095e-06	2.27092e-06	1	1	0
KIF21B	23046	broad.mit.edu	37	1	200943316	200943316	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:200943316G>A	uc001gvs.2	-	34	5138	c.4821C>T	c.(4819-4821)tgC>tgT	p.C1607C	KIF21B_uc009wzl.2_Intron|KIF21B_uc001gvr.2_Silent_p.C1594C|KIF21B_uc010ppn.2_Intron	NM_001252100	NP_001239029	O75037	KI21B_HUMAN	Homo sapiens kinesin family member 21B (KIF21B), transcript variant 1, mRNA.	1607					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						ACTTTACCCGGCAGTCACTGT	0.612000														42			7		0	0	1	0	0
CDH2	1000	broad.mit.edu	37	18	25565020	25565020	+	Missense_Mutation	SNP	G	A	A	rs140836073		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:25565020G>A	uc002kwg.2	-	12	2612	c.2153C>T	c.(2152-2154)gCg>gTg	p.A718V	CDH2_uc010xbn.1_Missense_Mutation_p.A687V	NM_001792	NP_001783	P19022	CADH2_HUMAN	Homo sapiens cadherin 2, type 1, N-cadherin (neuronal) (CDH2), mRNA.	718					adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding	p.A718T(1)		NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						GCCAAGCCCCGCACCCACAAT	0.493000														21			18		0	0	1	0	0
PRDM10	56980	broad.mit.edu	37	11	129788582	129788582	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:129788582C>A	uc001qfm.3	-	14	2310	c.2078G>T	c.(2077-2079)aGg>aTg	p.R693M	PRDM10_uc001qfj.3_Missense_Mutation_p.R607M|PRDM10_uc001qfk.3_Missense_Mutation_p.R603M|PRDM10_uc001qfl.3_Missense_Mutation_p.R607M|PRDM10_uc010sbx.2_Missense_Mutation_p.R603M|PRDM10_uc001qfn.3_Missense_Mutation_p.R689M|PRDM10_uc009zcs.1_5'Flank	NM_020228	NP_064613	Q9NQV6	PRD10_HUMAN	Homo sapiens PR domain containing 10 (PRDM10), transcript variant 1, mRNA.	693					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		ATTATGCATCCTCTGCATGTG	0.493000														268			18		1.10513e-12	1.3661e-12	1	1	0
STON2	85439	broad.mit.edu	37	14	81737106	81737106	+	Missense_Mutation	SNP	A	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:81737106A>T	uc010tvu.2	-	4	2719	c.2521T>A	c.(2521-2523)Tct>Act	p.S841T	STON2_uc001xvk.1_Missense_Mutation_p.S841T|STON2_uc010tvt.2_Missense_Mutation_p.S638T	NM_033104	NP_149095	Q8WXE9	STON2_HUMAN	Homo sapiens stonin 2 (STON2), transcript variant 1, mRNA.	841	MHD.				endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		TTGGAGGCAGAAGTTGTGGGC	0.502000														89			39		0	0	1	0	0
OXCT1	5019	broad.mit.edu	37	5	41803250	41803250	+	Missense_Mutation	SNP	C	T	T	rs121909301		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:41803250C>T	uc003jmn.3	-	9	1302	c.971G>A	c.(970-972)gGa>gAa	p.G324E		NM_000436	NP_000427	P55809	SCOT1_HUMAN	Homo sapiens 3-oxoacid CoA transferase 1 (OXCT1), nuclear gene encoding mitochondrial protein, mRNA.	324			G -> E (in SCOTD).		cellular lipid metabolic process|ketone body catabolic process	mitochondrial matrix	3-oxoacid CoA-transferase activity|protein homodimerization activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(2)	28					Succinic acid(DB00139)	GAGAGGGATTCCTATGCCCAA	0.353000														66			30		0	0	1	0	0
CARD6	84674	broad.mit.edu	37	5	40853382	40853382	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:40853382G>A	uc003jmg.3	+	2	2023	c.1948G>A	c.(1948-1950)Gcc>Acc	p.A650T		NM_032587	NP_115976	Q9BX69	CARD6_HUMAN	Homo sapiens caspase recruitment domain family, member 6 (CARD6), mRNA.	650					apoptosis|regulation of apoptosis	intracellular				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						GGCCGCCCTGGCCAGGGAGCT	0.517000														137			82		0	0	1	0	0
PLAC8L1	153770	broad.mit.edu	37	5	145464109	145464109	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:145464109C>T	uc003lnv.3	-	3	492	c.420G>A	c.(418-420)gcG>gcA	p.A140A	PLAC8L1_uc021yfd.1_Non-coding_Transcript|PLAC8L1_uc011dbp.2_Non-coding_Transcript	NM_001029869	NP_001025040	A1L4L8	PL8L1_HUMAN	Homo sapiens PLAC8-like 1 (PLAC8L1), mRNA.	140										autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|stomach(2)	10			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGCAGTGCACCGCCAGCCAGT	0.522000														32			22		0	0	1	0	0
NDUFA9	4704	broad.mit.edu	37	12	4791407	4791407	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:4791407C>T	uc001qnc.3	+	8	866	c.837C>T	c.(835-837)taC>taT	p.Y279Y	NDUFA9_uc010ses.2_Silent_p.Y60Y	NM_005002	NP_004993	Q16795	NDUA9_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa (NDUFA9), nuclear gene encoding mitochondrial protein, mRNA.	279					mitochondrial electron transport, NADH to ubiquinone|sodium ion transport	mitochondrial matrix|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity|protein binding	p.Y279H(1)		NS(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21					NADH(DB00157)	TGGTGAAGTACATCTTTGCTG	0.428000														71			53		0	0	1	0	0
CACNA1A	773	broad.mit.edu	37	19	13346039	13346039	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:13346039G>A	uc002mwy.3	-	32	5353	c.5117C>T	c.(5116-5118)gCc>gTc	p.A1706V	CACNA1A_uc002mwx.3_Missense_Mutation_p.A412V|CACNA1A_uc010dzc.2_Missense_Mutation_p.A1232V|CACNA1A_uc010xnd.2_Missense_Mutation_p.A1709V|CACNA1A_uc021ups.1_Missense_Mutation_p.A1706V|CACNA1A_uc010xne.2_Missense_Mutation_p.A1709V|CACNA1A_uc010dze.2_Missense_Mutation_p.A1706V|CACNA1A_uc021upt.1_Missense_Mutation_p.A1707V|CACNA1A_uc002mwv.3_Missense_Mutation_p.A223V	NM_001127222	NP_001120694	O00555	CAC1A_HUMAN	Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 4, mRNA.	1707					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	CCCAATGATGGCATAGATGAA	0.567000											OREG0025293	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		4			3		0	0	1	0	0
CILP2	148113	broad.mit.edu	37	19	19655297	19655297	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:19655297G>A	uc002nmw.4	+	7	2046	c.1961G>A	c.(1960-1962)cGt>cAt	p.R654H	CILP2_uc002nmv.4_Missense_Mutation_p.R648H	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN	Homo sapiens cartilage intermediate layer protein 2 (CILP2), mRNA.	648						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						GTGGACCTCCGTGCGCCCGGC	0.721000														28			3		0	0	1	0	0
FAT2	2196	broad.mit.edu	37	5	150945768	150945768	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:150945768T>C	uc003lue.4	-	0	2738	c.2725A>G	c.(2725-2727)Act>Gct	p.T909A	FAT2_uc010jhx.1_Missense_Mutation_p.T909A	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	909	Cadherin 7.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	p.V908V(1)		NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATCAGGTCAGTGACAGAGAAG	0.562000														31			13		0	0	1	0	0
TRIM42	287015	broad.mit.edu	37	3	140419810	140419810	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:140419810C>T	uc003eto.2	+	4	2372	c.2166C>T	c.(2164-2166)caC>caT	p.H722H		NM_152616	NP_689829	Q8IWZ5	TRI42_HUMAN	Homo sapiens tripartite motif containing 42 (TRIM42), mRNA.	722						intracellular	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TCCAGAAGCACTTCTGAGCCC	0.458000														23			15		0	0	1	0	0
NLRC5	84166	broad.mit.edu	37	16	57063993	57063993	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:57063993C>T	uc021tiu.1	+	8	2541	c.2414C>T	c.(2413-2415)gCc>gTc	p.A805V	NLRC5_uc010ccq.1_Non-coding_Transcript|NLRC5_uc021tiv.1_Missense_Mutation_p.A610V|NLRC5_uc021tiw.1_Missense_Mutation_p.A610V|NLRC5_uc010ccr.1_Non-coding_Transcript	NM_032206	NP_115582	Q86WI3	NLRC5_HUMAN	Homo sapiens NLR family, CARD domain containing 5 (NLRC5), mRNA.	805					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|RNA polymerase II core promoter sequence-specific DNA binding|protein binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				ATGCTTCAGGCCAGGTGAGCA	0.562000														44			5		0	0	1	0	0
DYSF	8291	broad.mit.edu	37	2	71795164	71795164	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:71795164G>T	uc010fen.3	+	24	2790	c.2649G>T	c.(2647-2649)aaG>aaT	p.K883N	DYSF_uc010fei.3_Missense_Mutation_p.K882N|DYSF_uc010feh.3_Missense_Mutation_p.K851N|DYSF_uc002sig.4_Missense_Mutation_p.K851N|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Missense_Mutation_p.K896N|DYSF_uc010fee.3_Missense_Mutation_p.K865N|DYSF_uc010fef.3_Missense_Mutation_p.K882N|DYSF_uc002sie.3_Missense_Mutation_p.K865N|DYSF_uc010feo.3_Missense_Mutation_p.K897N|DYSF_uc010fej.3_Missense_Mutation_p.K852N|DYSF_uc010fel.3_Missense_Mutation_p.K852N|DYSF_uc010fem.3_Missense_Mutation_p.K866N|DYSF_uc002sif.3_Missense_Mutation_p.K866N|DYSF_uc010fek.3_Missense_Mutation_p.K883N	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.	865						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						TGGATGAGAAGGAGTTCAACC	0.582000														75			7		0.00307968	0.00322291	1	1	0
NKTR	4820	broad.mit.edu	37	3	42678608	42678608	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:42678608C>T	uc003clo.3	+	12	1559	c.1412C>T	c.(1411-1413)tCc>tTc	p.S471F	NKTR_uc003clm.1_Missense_Mutation_p.S218F|NKTR_uc011azp.2_Intron|NKTR_uc003clp.3_Missense_Mutation_p.S218F|NKTR_uc003clq.1_Missense_Mutation_p.S361F|NKTR_uc003clr.1_Missense_Mutation_p.S218F|NKTR_uc003cls.3_Missense_Mutation_p.S171F	NM_005385	NP_005376	P30414	NKTR_HUMAN	Homo sapiens natural killer-tumor recognition sequence (NKTR), mRNA.	471	Arg/Ser-rich.				protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		TCAAAATCTTCCACTCGAAGA	0.378000														38			21		0	0	1	0	0
USP29	57663	broad.mit.edu	37	19	57641872	57641872	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:57641872G>A	uc002qny.3	+	3	2185	c.1829G>A	c.(1828-1830)tGt>tAt	p.C610Y	USP29_uc021vci.1_Missense_Mutation_p.C610Y	NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN	Homo sapiens ubiquitin specific peptidase 29 (USP29), mRNA.	610					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CAGAGAGACTGTGGAGATGCA	0.478000														30			12		0	0	1	0	0
NAV3	89795	broad.mit.edu	37	12	78591117	78591117	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:78591117C>A	uc001syp.3	+	34	6555	c.6382C>A	c.(6382-6384)Ctt>Att	p.L2128I	NAV3_uc001syo.3_Missense_Mutation_p.L2106I|NAV3_uc010sub.2_Missense_Mutation_p.L1585I|NAV3_uc009zsf.3_Missense_Mutation_p.L937I	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	Homo sapiens neuron navigator 3 (NAV3), mRNA.	2128						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	p.L2106V(1)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						TCTTGATAATCTTCATCATGT	0.333000										HNSCC(70;0.22)				31			17		9.16793e-09	1.08001e-08	1	1	0
MUC4	4585	broad.mit.edu	37	3	195517305	195517305	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:195517305A>G	uc021xjp.1	-	1	1302	c.1146T>C	c.(1144-1146)agT>agC	p.S382S	MUC4_uc003fvo.3_Intron|MUC4_uc003fvp.3_Intron|MUC4_uc021xjq.1_Silent_p.S264S	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	387					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TATTGCTGACACTGGAAGGGG	0.453000														87			55		0	0	1	0	0
SEC24B	10427	broad.mit.edu	37	4	110452580	110452580	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:110452580C>T	uc003hzk.3	+	19	3347	c.3292C>T	c.(3292-3294)Cgt>Tgt	p.R1098C	SEC24B_uc003hzl.3_Missense_Mutation_p.R1063C|SEC24B_uc011cfp.2_Missense_Mutation_p.R1128C|SEC24B_uc011cfq.2_Missense_Mutation_p.R1097C|SEC24B_uc011cfr.2_Missense_Mutation_p.R1062C	NM_006323	NP_006314	O95487	SC24B_HUMAN	Homo sapiens SEC24 family, member B (S. cerevisiae) (SEC24B), transcript variant 1, mRNA.	1098					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|Golgi membrane|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding			breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		GCTGGATGATCGTGTATATGC	0.358000														51			29		0	0	1	0	0
GAD1	2571	broad.mit.edu	37	2	171702114	171702114	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:171702114C>A	uc002ugi.3	+	7	1272	c.850C>A	c.(850-852)Ctc>Atc	p.L284I		NM_000817	NP_000808	Q99259	DCE1_HUMAN	Homo sapiens glutamate decarboxylase 1 (brain, 67kDa) (GAD1), transcript variant GAD67, mRNA.	284					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding	p.V283G(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	TAAACTGGTCCTCTTCACCTC	0.507000														44			26		0.000117367	0.000127522	1	1	0
ATM	472	broad.mit.edu	37	11	108153589	108153589	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:108153589T>C	uc001pkb.1	+	24	4114	c.3729T>C	c.(3727-3729)aaT>aaC	p.N1243N	ATM_uc009yxr.1_Silent_p.N1243N	NM_000051	NP_000042	Q13315	ATM_HUMAN	Homo sapiens ataxia telangiectasia mutated (ATM), mRNA.	1243					DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2/M transition DNA damage checkpoint|cell cycle arrest|cellular response to gamma radiation|double-strand break repair via homologous recombination|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein N-terminus binding|protein complex binding|protein dimerization activity	p.N1240fs*4(1)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		ACTACACAAATATTGAGGATT	0.289000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)				29			3		0	0	1	0	0
WRAP73	49856	broad.mit.edu	37	1	3548792	3548792	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:3548792G>T	uc001ako.3	-	9	1141	c.1033C>A	c.(1033-1035)Ctg>Atg	p.L345M	WRAP73_uc001akn.3_Missense_Mutation_p.L345M|WRAP73_uc010nzi.2_3'UTR	NM_017818	NP_060288	Q9P2S5	WRP73_HUMAN	Homo sapiens WD repeat containing, antisense to TP73 (WRAP73), mRNA.	345						centrosome	protein binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)	12						CTTGTCGCCAGGAAGTAGCTG	0.512000														65			42		1.22674e-20	1.58528e-20	1	1	0
KIAA1033	23325	broad.mit.edu	37	12	105551100	105551100	+	Splice_Site	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:105551100G>T	uc010swr.2	+	28	3002	c.2915_splice	c.e28+1	p.R972_splice	KIAA1033_uc001tld.3_Splice_Site_p.R971_splice|KIAA1033_uc010sws.2_Splice_Site_p.R783_splice	NM_015275	NP_056090	Q2M389	WAHS7_HUMAN	Homo sapiens KIAA1033 (KIAA1033), mRNA.	971					endosome transport	WASH complex				breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						AAAGCAGCAAGGTAATCTAAA	0.274000														32			4		0.150653	0.152248	1	1	0
FAM70A	55026	broad.mit.edu	37	X	119419070	119419070	+	Splice_Site	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:119419070C>A	uc004eso.4	-	7	723	c.496_splice	c.e7-1	p.V166_splice	FAM70A_uc004esp.4_Splice_Site_p.V142_splice|FAM70A_uc010nqo.3_Intron	NM_017938	NP_060408	Q5JRV8	FA70A_HUMAN	Homo sapiens family with sequence similarity 70, member A (FAM70A), transcript variant 1, mRNA.	166						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(7)|lung(4)|prostate(2)	19						GGGCAGTTAACCTGACGGTAT	0.517000														129			13		0.0135373	0.0139797	1	1	0
BRPF1	7862	broad.mit.edu	37	3	9789022	9789022	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:9789022G>A	uc003bse.3	+	13	4033	c.3634G>A	c.(3634-3636)Gat>Aat	p.D1212N	BRPF1_uc003bsf.3_Missense_Mutation_p.D1218N|BRPF1_uc003bsg.3_Missense_Mutation_p.D1211N|BRPF1_uc011ati.2_Missense_Mutation_p.D1117N|OGG1_uc003bsj.3_5'Flank|OGG1_uc003bsi.3_5'Flank|OGG1_uc003bsh.3_5'Flank|OGG1_uc003bsl.3_5'Flank|OGG1_uc003bsk.3_5'Flank|OGG1_uc003bsm.3_5'Flank|OGG1_uc003bsn.3_5'Flank|OGG1_uc003bso.3_5'Flank	NM_004634	NP_004625	P55201	BRPF1_HUMAN	Homo sapiens bromodomain and PHD finger containing, 1 (BRPF1), transcript variant 2, mRNA.	1212					histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|cytoplasm|plasma membrane	DNA binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					TGAGACCAGCGATAGTGATTG	0.582000														47			29		0	0	1	0	0
ELAVL4	1996	broad.mit.edu	37	1	50642804	50642804	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:50642804G>T	uc001csb.2	+	2	562	c.294G>T	c.(292-294)aaG>aaT	p.K98N	ELAVL4_uc001cry.3_Missense_Mutation_p.K101N|ELAVL4_uc001crz.3_Missense_Mutation_p.K98N|ELAVL4_uc001csa.3_Missense_Mutation_p.K115N|ELAVL4_uc001csc.3_Missense_Mutation_p.K98N|ELAVL4_uc009vyu.3_Missense_Mutation_p.K103N|ELAVL4_uc010omz.2_Missense_Mutation_p.K103N	NM_021952	NP_068771	P26378	ELAV4_HUMAN	Homo sapiens ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4 (Hu antigen D) (ELAVL4), transcript variant 1, mRNA.	98	RRM 1.				mRNA processing		AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding	p.P97A(1)		NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						TTGATCCAAAGGATGCAGAGA	0.423000														53			8		3.09899e-07	3.55757e-07	1	1	0
PRPF4B	8899	broad.mit.edu	37	6	4032437	4032437	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:4032437G>T	uc003mvv.3	+	1	777	c.686G>T	c.(685-687)aGa>aTa	p.R229I	PRPF4B_uc011dhv.1_Non-coding_Transcript	NM_003913	NP_003904	Q13523	PRP4B_HUMAN	Homo sapiens PRP4 pre-mRNA processing factor 4 homolog B (yeast) (PRPF4B), mRNA.	229	Arg/Lys-rich (basic).					catalytic step 2 spliceosome	ATP binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	22	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				CCATCCAAAAGAAGTAAGTCT	0.383000														128			72		3.13743e-37	4.1633e-37	1	1	0
STIM2	57620	broad.mit.edu	37	4	27010624	27010624	+	Splice_Site	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:27010624G>A	uc003gsg.4	+	10	2017	c.1489_splice	c.e10+1	p.G497_splice	STIM2_uc003gsh.4_Splice_Site_p.G505_splice|STIM2_uc010iex.3_Splice_Site_p.G497_splice|STIM2_uc010iey.3_Splice_Site_p.G208_splice	NM_020860	NP_065911	Q9P246	STIM2_HUMAN	Homo sapiens stromal interaction molecule 2 (STIM2), transcript variant 2, mRNA.	497					activation of store-operated calcium channel activity|calcium ion transport|cellular calcium ion homeostasis|negative regulation of calcium ion transport via store-operated calcium channel activity	endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium channel regulator activity|calcium ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	25		Breast(46;0.0503)				ACAATTTCCCGGTAAGTGGCA	0.408000														61			19		0	0	1	0	0
GPNMB	10457	broad.mit.edu	37	7	23299713	23299713	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:23299713C>T	uc003swc.3	+	4	817	c.656C>T	c.(655-657)gCa>gTa	p.A219V	GPNMB_uc003swb.3_Missense_Mutation_p.A219V|GPNMB_uc011jyy.2_Missense_Mutation_p.A161V|GPNMB_uc011jyz.2_Missense_Mutation_p.A120V	NM_001005340	NP_001005340	Q14956	GPNMB_HUMAN	Homo sapiens glycoprotein (transmembrane) nmb (GPNMB), transcript variant 1, mRNA.	219					negative regulation of cell proliferation	melanosome		p.R218R(1)		breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2)	41			GBM - Glioblastoma multiforme(13;0.154)			CATGGACGGGCATATGTTCCC	0.468000														49			37		0	0	1	0	0
HDAC10	83933	broad.mit.edu	37	22	50688893	50688893	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:50688893G>A	uc003bkg.3	-	2	627	c.254C>T	c.(253-255)gCg>gTg	p.A85V	HDAC10_uc010hav.3_Missense_Mutation_p.A85V|HDAC10_uc003bkh.3_Intron|HDAC10_uc003bkj.3_Intron|HDAC10_uc003bkk.1_5'Flank|MAPK12_uc003bko.2_3'UTR|MAPK12_uc003bkm.1_3'UTR|MAPK12_uc003bkl.1_3'UTR	NM_032019	NP_114408	Q969S8	HDA10_HUMAN	Homo sapiens histone deacetylase 10 (HDAC10), transcript variant 1, mRNA.	85	Histone deacetylase.				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|nucleus	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding			endometrium(2)|kidney(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	8		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TCCGGACAGCGCCTGCAGCTC	0.617000														37			22		0	0	1	0	0
CAPN10	11132	broad.mit.edu	37	2	241537381	241537381	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:241537381G>A	uc002vzk.2	+	9	2016	c.1820G>A	c.(1819-1821)cGc>cAc	p.R607H	CAPN10_uc002vzp.2_Non-coding_Transcript|CAPN10_uc002vzm.2_Missense_Mutation_p.R73H|CAPN10_uc002vzl.2_Missense_Mutation_p.R452H|CAPN10_uc002vzn.2_Missense_Mutation_p.R479H|CAPN10_uc002vzo.2_Non-coding_Transcript|CAPN10_uc010fzg.2_Non-coding_Transcript|CAPN10_uc002vzq.2_Intron	NM_023083	NP_075571	Q9HC96	CAN10_HUMAN	Homo sapiens calpain 10 (CAPN10), transcript variant 1, mRNA.	607	Domain III 2.				actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis	cytosol|plasma membrane	SNARE binding|calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1)	27		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)		GTGCCACATCGCTACGCCCAG	0.667000														9			10		0	0	1	0	0
HLA-DRB5	3127	broad.mit.edu	37	6	32557480	32557480	+	Missense_Mutation	SNP	C	T	T	rs17878475		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:32557480C>T	uc003obk.4	-	0	134	c.40G>A	c.(40-42)Gcg>Acg	p.A14T	HLA-DRB5_uc021yvx.1_Missense_Mutation_p.A14T|HLA-DRB5_uc003obp.4_Missense_Mutation_p.A14T	NM_002125	NP_002116	Q30154	DRB5_HUMAN	Homo sapiens major histocompatibility complex, class II, DR beta 5 (HLA-DRB5), mRNA.	14			K -> M (in dbSNP:rs1064587).|K -> Q (in dbSNP:rs701884).|K -> V (in allele DRB5*02:02; requires 2 nucleotide substitutions).		antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response	Golgi apparatus|MHC class II protein complex|endoplasmic reticulum membrane|integral to membrane|late endosome membrane|lysosomal membrane		p.K14K(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|stomach(2)	10						ACTGTCAGCGCTGTCATGCAG	0.592000														48			5		0	0	1	0	0
KIAA0100	9703	broad.mit.edu	37	17	26961728	26961728	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:26961728C>T	uc002hbu.3	-	15	2980	c.2877G>A	c.(2875-2877)atG>atA	p.M959I		NM_014680	NP_055495	Q14667	K0100_HUMAN	Homo sapiens KIAA0100 (KIAA0100), mRNA.	959						extracellular region				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					GTGCCCGGCGCATGGGTGTGT	0.527000														100			10		0	0	1	0	0
GOLGB1	2804	broad.mit.edu	37	3	121415041	121415041	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:121415041A>G	uc010hrc.3	-	12	4455	c.4329T>C	c.(4327-4329)gcT>gcC	p.A1443A	GOLGB1_uc003eei.4_Silent_p.A1438A|GOLGB1_uc003eej.4_Silent_p.A1404A|GOLGB1_uc021xcy.1_Silent_p.A1363A|GOLGB1_uc011bjm.1_Silent_p.A1324A|GOLGB1_uc010hrd.1_Silent_p.A1402A	NM_004487	NP_004478	Q14789	GOGB1_HUMAN	Homo sapiens golgin B1 (GOLGB1), mRNA.	1438					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	p.Q1442*(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		GTGTATGCAGAGCCTTAATTA	0.388000														128			56		0	0	1	0	0
FAM214A	56204	broad.mit.edu	37	15	52901017	52901017	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:52901017T>C	uc010ugf.2	-	4	2249	c.2115A>G	c.(2113-2115)aaA>aaG	p.K705K	FAM214A_uc002acg.4_Silent_p.K698K|FAM214A_uc002ach.4_Non-coding_Transcript|FAM214A_uc010bfg.1_Silent_p.K610K	NM_019600	NP_062546	Q32MH5	K1370_HUMAN	Homo sapiens family with sequence similarity 214, member A (FAM214A), mRNA.	698																	TGCTTTCATATTTGTTCAAAT	0.294000														78			6		0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124377281	124377281	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:124377281C>T	uc003ehg.3	+	41	6164	c.6037C>T	c.(6037-6039)Cgg>Tgg	p.R2013W	KALRN_uc003ehi.3_Missense_Mutation_p.R354W|KALRN_uc003ehk.3_Missense_Mutation_p.R316W|KALRN_uc011bjz.2_Missense_Mutation_p.R105W	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA.	2012	DH 2.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						CTTTCAGGAGCGGAAGCTGCA	0.507000														59			31		0	0	1	0	0
KIFC1	3833	broad.mit.edu	37	6	33371558	33371558	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:33371558C>A	uc003oef.4	+	5	858	c.408C>A	c.(406-408)gcC>gcA	p.A136A	KIFC1_uc011drf.2_Silent_p.A128A	NM_002263	NP_002254	Q9BW19	KIFC1_HUMAN	Homo sapiens kinesin family member C1 (KIFC1), mRNA.	136					blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation	early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle	ATP binding|microtubule motor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	13						AACGTCCAGCCTGGGACTTAA	0.502000														40			26		4.59853e-10	5.52125e-10	1	1	0
KIAA1704	55425	broad.mit.edu	37	13	45594492	45594492	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:45594492A>C	uc001uzq.3	+	6	836	c.733A>C	c.(733-735)Agt>Cgt	p.S245R	KIAA1704_uc010tfo.1_Non-coding_Transcript|KIAA1704_uc001uzr.1_Missense_Mutation_p.S245R|KIAA1704_uc001uzs.3_Missense_Mutation_p.S122R|KIAA1704_uc001uzt.3_Missense_Mutation_p.S96R	NM_018559	NP_061029	Q8IXQ4	K1704_HUMAN	Homo sapiens KIAA1704 (KIAA1704), mRNA.	245										breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|prostate(2)|skin(1)	12		Lung NSC(96;0.00143)|Prostate(109;0.0137)|Breast(139;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.133)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000313)|BRCA - Breast invasive adenocarcinoma(63;0.126)		GAAGTCATCCAGTAAGAAAGA	0.303000														56			8		0	0	1	0	0
ZNF318	24149	broad.mit.edu	37	6	43323412	43323412	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:43323412G>A	uc003oux.3	-	3	1738	c.1660C>T	c.(1660-1662)Ccc>Tcc	p.P554S	ZNF318_uc003ouw.3_Non-coding_Transcript	NM_014345	NP_055160	Q5VUA4	ZN318_HUMAN	Homo sapiens zinc finger protein 318 (ZNF318), mRNA.	554					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			CTCCCAAGGGGCTTTGGTACG	0.478000														144			105		0	0	1	0	0
NINJ1	4814	broad.mit.edu	37	9	95888857	95888857	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:95888857C>T	uc004atg.4	-	1	210	c.139G>A	c.(139-141)Gca>Aca	p.A47T		NM_004148	NP_004139	Q92982	NINJ1_HUMAN	Homo sapiens ninjurin 1 (NINJ1), mRNA.	47					cell adhesion|nervous system development|tissue regeneration	integral to membrane				kidney(1)|large_intestine(2)|upper_aerodigestive_tract(1)	4						CTCTCGGCTGCGCTCTTCTTG	0.667000														35			17		0	0	1	0	0
ZNF221	7638	broad.mit.edu	37	19	44471408	44471408	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:44471408G>T	uc002oxx.2	+	5	2082	c.1754G>T	c.(1753-1755)aGt>aTt	p.S585I	ZNF221_uc010ejb.1_Missense_Mutation_p.S585I|ZNF221_uc010xws.1_Missense_Mutation_p.S585I	NM_013359	NP_037491	Q9UK13	ZN221_HUMAN	Homo sapiens zinc finger protein 221 (ZNF221), mRNA.	585					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(11)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	30		Prostate(69;0.0352)				AGACTCCACAGTGGAGAAAAG	0.448000														76			7		2.7689e-08	3.24273e-08	1	1	0
PDZD2	23037	broad.mit.edu	37	5	32059379	32059379	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:32059379C>T	uc003jhl.3	+	12	2623	c.2235C>T	c.(2233-2235)tgC>tgT	p.C745C	PDZD2_uc003jhm.3_Silent_p.C745C|PDZD2_uc011cnx.1_Silent_p.C571C	NM_178140	NP_835260	O15018	PDZD2_HUMAN	Homo sapiens PDZ domain containing 2 (PDZD2), mRNA.	745	PDZ 4.				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GTGCCTGCTGCTTGGCTCTGG	0.443000														44			6		0	0	1	0	0
BUB1	699	broad.mit.edu	37	2	111408165	111408165	+	Nonsense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:111408165C>A	uc002tgc.3	-	17	2273	c.2161G>T	c.(2161-2163)Gaa>Taa	p.E721*	BUB1_uc010yxh.2_Nonsense_Mutation_p.E701*|BUB1_uc010fkb.3_Nonsense_Mutation_p.E721*	NM_004336	NP_004327	O43683	BUB1_HUMAN	Homo sapiens budding uninhibited by benzimidazoles 1 homolog (yeast) (BUB1), mRNA.	721					apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		TGCATCCATTCTGCTTGGAGC	0.512000														29			8		0.0381472	0.0388409	1	1	0
SIGLEC11	114132	broad.mit.edu	37	19	50463907	50463907	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:50463907G>A	uc010ybh.2	-	1	453	c.362C>T	c.(361-363)gCg>gTg	p.A121V	SIGLEC11_uc010ybi.2_Missense_Mutation_p.A121V	NM_052884	NP_443116	Q96RL6	SIG11_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 11 (SIGLEC11), transcript variant 1, mRNA.	121	Ig-like V-type.				cell adhesion	integral to membrane	sugar binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		CTCCCTCTGCGCGTCTCTGAT	0.537000														22			15		0	0	1	0	0
SPTBN4	57731	broad.mit.edu	37	19	41038566	41038566	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:41038566C>T	uc002ony.3	+	18	4069	c.3983C>T	c.(3982-3984)gCg>gTg	p.A1328V	SPTBN4_uc002onx.3_Missense_Mutation_p.A1328V|SPTBN4_uc002onz.3_Missense_Mutation_p.A1328V|SPTBN4_uc010egx.3_Missense_Mutation_p.A71V|SPTBN4_uc010egy.1_Missense_Mutation_p.A4V|SPTBN4_uc002ooa.3_Missense_Mutation_p.A4V|SPTBN4_uc010egz.1_Missense_Mutation_p.A4V	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 4 (SPTBN4), transcript variant sigma1, mRNA.	1328					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	PML body|cytosol|nuclear matrix|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton	p.A1328V(2)		breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			ATGCTGATGGCGCGGGATGGC	0.612000														43			17		0	0	1	0	0
USP3	9960	broad.mit.edu	37	15	63866561	63866561	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:63866561G>A	uc002amf.3	+	10	1184	c.1055G>A	c.(1054-1056)cGc>cAc	p.R352H	USP3_uc010uii.1_Non-coding_Transcript|USP3_uc002amg.3_Missense_Mutation_p.R267H|USP3_uc002amh.3_Missense_Mutation_p.R330H|USP3_uc010uij.2_Missense_Mutation_p.R308H|USP3_uc010uik.2_Missense_Mutation_p.R103H|USP3_uc010bgs.3_Missense_Mutation_p.R335H|USP3_uc002ami.3_Missense_Mutation_p.R183H	NM_006537	NP_006528	Q9Y6I4	UBP3_HUMAN	Homo sapiens ubiquitin specific peptidase 3 (USP3), mRNA.	352					DNA repair|histone deubiquitination|mitotic cell cycle|regulation of protein stability|ubiquitin-dependent protein catabolic process	nuclear chromatin	histone binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			endometrium(3)|large_intestine(7)|lung(4)	14				GBM - Glioblastoma multiforme(80;0.0187)		AGAAGTAAGCGCTCTAAGAAT	0.308000														32			16		0	0	1	0	0
REPS1	85021	broad.mit.edu	37	6	139269016	139269016	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:139269016T>C	uc003qii.3	-	1	767	c.188A>G	c.(187-189)tAt>tGt	p.Y63C	REPS1_uc003qig.4_Missense_Mutation_p.Y63C|REPS1_uc011edr.2_Missense_Mutation_p.Y63C|REPS1_uc003qij.3_Missense_Mutation_p.Y63C|REPS1_uc003qik.3_5'UTR	NM_031922	NP_114128	Q96D71	REPS1_HUMAN	Homo sapiens RALBP1 associated Eps domain containing 1 (REPS1), transcript variant 1, mRNA.	63	EH 1.					coated pit|plasma membrane	SH3 domain binding|calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19				GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)		TCTTCCAAAATAACCAAGTCT	0.338000														30			19		0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64606673	64606673	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:64606673C>T	uc001xgl.3	+	79	15088	c.14858C>T	c.(14857-14859)tCg>tTg	p.S4953L	SYNE2_uc001xgm.3_Missense_Mutation_p.S4953L|SYNE2_uc010apy.3_Missense_Mutation_p.S1338L|SYNE2_uc001xgn.3_5'UTR|SYNE2_uc021rui.1_5'UTR|SYNE2_uc001xgo.3_5'Flank	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	4953					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane	actin binding|protein binding	p.S4953L(2)		NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AACAGAGATTCGGATCAGTTA	0.378000														43			26		0	0	1	0	0
PPP1R16B	26051	broad.mit.edu	37	20	37529326	37529326	+	Splice_Site	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:37529326G>T	uc002xje.3	+	5	760	c.571_splice	c.e5+1	p.G191_splice	PPP1R16B_uc010ggc.3_Splice_Site_p.G191_splice	NM_015568	NP_056383	Q96T49	PP16B_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 16B (PPP1R16B), transcript variant 1, mRNA.	191					regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding			biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				TGGCATACCAGGGTAAGGGAG	0.552000														12			12		0.00010058	0.000109296	1	1	0
DUOXA2	405753	broad.mit.edu	37	15	45406895	45406895	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:45406895T>G	uc001zuo.3	+	0	373	c.92T>G	c.(91-93)tTt>tGt	p.F31C	DUOX2_uc001zun.3_5'Flank|DUOX2_uc010bea.3_5'Flank|DUOXA2_uc010beb.3_Non-coding_Transcript	NM_207581	NP_997464	Q1HG44	DOXA2_HUMAN	Homo sapiens dual oxidase maturation factor 2 (DUOXA2), mRNA.	31					protein transport	endoplasmic reticulum membrane|integral to membrane							all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;2.88e-18)|GBM - Glioblastoma multiforme(94;3.95e-07)|COAD - Colon adenocarcinoma(120;0.0652)|Colorectal(133;0.0659)		ATTCTAGTGTTTTTGGCTCTA	0.582000														37			22		0	0	1	0	0
CNR2	1269	broad.mit.edu	37	1	24201569	24201569	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:24201569G>T	uc021oij.1	-	0	539	c.539C>A	c.(538-540)tCt>tAt	p.S180Y	CNR2_uc001bif.3_Missense_Mutation_p.S180Y	NM_001841	NP_001832	P34972	CNR2_HUMAN	Homo sapiens cannabinoid receptor 2 (macrophage) (CNR2), mRNA.	180					G-protein signaling, coupled to cyclic nucleotide second messenger|behavior|immune response|inflammatory response	dendrite|integral to plasma membrane|perikaryon	cannabinoid receptor activity	p.S180S(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(9)|pancreas(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(2)	26		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.32e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;2.9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.146)	Nabilone(DB00486)	GAAAAGCTCAGAGCAGGGCCT	0.567000														40			4		0.184627	0.186034	1	1	0
PRMT5	10419	broad.mit.edu	37	14	23390200	23390200	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:23390200C>T	uc001whm.1	-	16	1918	c.1827G>A	c.(1825-1827)aaG>aaA	p.K609K	RBM23_uc001whh.3_5'Flank|RBM23_uc001whg.3_5'Flank|RBM23_uc001whi.3_5'Flank|RBM23_uc010tne.2_5'Flank|RBM23_uc001whj.3_5'Flank|RBM23_uc001whk.1_5'Flank|PRMT5_uc001whl.1_Silent_p.K592K|PRMT5_uc010tnf.1_Silent_p.K503K|PRMT5_uc010tnh.1_Silent_p.K565K|PRMT5_uc010tng.1_Silent_p.K548K|PRMT5_uc001whn.1_Silent_p.K438K	NM_006109	NP_006100	O14744	ANM5_HUMAN	Homo sapiens protein arginine methyltransferase 5 (PRMT5), transcript variant 1, mRNA.	609					cell proliferation|histone H4-R3 methylation|ncRNA metabolic process|regulation of mitosis|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	histone-arginine N-methyltransferase activity|protein binding|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding			endometrium(4)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	25	all_cancers(95;2.76e-05)			GBM - Glioblastoma multiforme(265;0.0126)		ACCACACCTTCTTGGAATTGC	0.522000														29			14		0	0	1	0	0
HLCS	3141	broad.mit.edu	37	21	38309032	38309032	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:38309032G>A	uc010gnb.3	-	4	2127	c.713C>T	c.(712-714)tCt>tTt	p.S238F	HLCS_uc021wjb.1_Missense_Mutation_p.S238F|HLCS_uc002yvs.3_Missense_Mutation_p.S238F|HLCS_uc010gnc.2_Missense_Mutation_p.S385F	NM_001242784	NP_001229713	P50747	BPL1_HUMAN	Homo sapiens holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase) (HLCS), transcript variant 3, mRNA.	238					cell proliferation|histone biotinylation|response to biotin	chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix	ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding	p.S238F(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(46;0.0422)			Biotin(DB00121)	CCCTCCCTGAGAAAGATAGGC	0.532000														27			22		0	0	1	0	0
LMNA	4000	broad.mit.edu	37	1	156104987	156104987	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:156104987G>A	uc001fni.2	+	4	1069	c.820G>A	c.(820-822)Gcc>Acc	p.A274T	LMNA_uc001fnf.1_Missense_Mutation_p.A274T|LMNA_uc001fng.2_Missense_Mutation_p.A274T|LMNA_uc001fnh.2_Missense_Mutation_p.A274T|LMNA_uc009wro.1_Missense_Mutation_p.A274T|LMNA_uc010pgz.1_Missense_Mutation_p.A162T|LMNA_uc001fnj.2_Missense_Mutation_p.A193T|LMNA_uc001fnk.2_Missense_Mutation_p.A175T|LMNA_uc009wrp.3_Missense_Mutation_p.M1I|LMNA_uc010pha.1_5'Flank	NM_170707	NP_733821	P02545	LMNA_HUMAN	Homo sapiens lamin A/C (LMNA), transcript variant 1, mRNA.	274	Coil 2.|Rod.				cellular component disassembly involved in apoptosis|cellular response to hypoxia|establishment or maintenance of microtubule cytoskeleton polarity|muscle organ development|positive regulation of cell aging|regulation of apoptosis|regulation of cell migration	cytoplasm|lamin filament|nuclear envelope|perinuclear region of cytoplasm	protein binding|structural molecule activity			NS(1)|endometrium(1)|kidney(1)|lung(3)|ovary(4)	10	Hepatocellular(266;0.158)					GCTGGACAATGCCAGGCAGTC	0.637000									Werner syndrome;Hutchinson-Gilford Progeria Syndrome					64			6		0	0	1	0	0
ERCC1	2067	broad.mit.edu	37	19	45923673	45923673	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:45923673C>T	uc002pbs.2	-	3	480	c.334G>A	c.(334-336)Gta>Ata	p.V112I	ERCC1_uc002pbt.2_Missense_Mutation_p.V112I|ERCC1_uc002pbu.2_Missense_Mutation_p.V40I|ERCC1_uc002pbv.3_Missense_Mutation_p.V112I	NM_001983	NP_001974	P07992	ERCC1_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence) (ERCC1), transcript variant 2, mRNA.	112					mitotic recombination|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|response to oxidative stress|transcription-coupled nucleotide-excision repair	cytoplasm|nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair complex	damaged DNA binding|endonuclease activity|protein C-terminus binding|protein domain specific binding|single-stranded DNA binding	p.V112I(3)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|skin(1)	15		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0247)		AACTTCAGTACGGGATTGCCC	0.582000								Nucleotide excision repair (NER)						11			7		0	0	1	0	0
LTB4R	1241	broad.mit.edu	37	14	24785242	24785242	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:24785242C>T	uc001wou.3	+	1	717	c.385C>T	c.(385-387)Cgc>Tgc	p.R129C	LTB4R_uc001wos.3_Missense_Mutation_p.R129C|LTB4R_uc010alp.3_Missense_Mutation_p.R129C|LTB4R_uc021rrq.1_Missense_Mutation_p.R129C	NM_181657	NP_858043	Q15722	LT4R1_HUMAN	Homo sapiens leukotriene B4 receptor (LTB4R), transcript variant 1, mRNA.	129					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular component movement|immune response|inflammatory response|muscle contraction	integral to plasma membrane	nucleotide binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|stomach(1)	8				GBM - Glioblastoma multiforme(265;0.018)		CCAGAAGCTACGCACCAAGGC	0.637000														34			5		0	0	1	0	0
EXOC1	55763	broad.mit.edu	37	4	56770609	56770609	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:56770609T>C	uc003hbe.1	+	18	2791	c.2633T>C	c.(2632-2634)tTc>tCc	p.F878S	EXOC1_uc003hbf.1_Missense_Mutation_p.F878S|EXOC1_uc003hbg.1_Missense_Mutation_p.F863S	NM_018261	NP_060731	Q9NV70	EXOC1_HUMAN	Homo sapiens exocyst complex component 1 (EXOC1), transcript variant 1, mRNA.	878					exocytosis|protein transport	exocyst	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35	Glioma(25;0.08)|all_neural(26;0.101)					ACAATGGAATTCACTATTCAG	0.398000														45			39		0	0	1	0	0
TBC1D12	23232	broad.mit.edu	37	10	96162399	96162399	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:96162399G>A	uc001kjr.2	+	0	214	c.29G>A	c.(28-30)tGc>tAc	p.C10Y		NM_015188	NP_056003	O60347	TBC12_HUMAN	Homo sapiens TBC1 domain family, member 12 (TBC1D12), mRNA.	10						intracellular	Rab GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	20		Colorectal(252;0.0429)				GCCGGAGCCTGCTCGGGAAGA	0.692000														13			5		0	0	1	0	0
DMD	1756	broad.mit.edu	37	X	31986618	31986618	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:31986618C>T	uc004dda.1	-	44	6696	c.6452G>A	c.(6451-6453)gGc>gAc	p.G2151D	DMD_uc004dcr.1_5'UTR|DMD_uc004dcs.1_5'UTR|DMD_uc004dct.1_5'UTR|DMD_uc004dcu.1_5'UTR|DMD_uc004dcv.1_5'UTR|DMD_uc004dcw.2_Missense_Mutation_p.G807D|DMD_uc004dcx.2_Missense_Mutation_p.G810D|DMD_uc004dcz.2_Missense_Mutation_p.G2028D|DMD_uc004dcy.1_Missense_Mutation_p.G2147D|DMD_uc004ddb.1_Missense_Mutation_p.G2143D|DMD_uc010ngo.1_Missense_Mutation_p.G60D|DMD_uc010ngn.1_Intron	NM_004006	NP_004001	P11532	DMD_HUMAN	Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA.	2151					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CTGCCCAATGCCATCCTGGAG	0.398000														38			6		0	0	1	0	0
PLEKHM1P	440456	broad.mit.edu	37	17	62796730	62796730	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:62796730G>A	uc002jew.4	-	5	1221	c.310C>T	c.(310-312)Cct>Tct	p.P104S	PLEKHM1P_uc002jev.3_Non-coding_Transcript|PLEKHM1P_uc010wqe.1_Missense_Mutation_p.P104S					Homo sapiens pleckstrin homology domain containing, family M (with RUN domain) member 1 pseudogene (PLEKHM1P), non-coding RNA.																		TCCTGCTGAGGCCGGACCTTC	0.667000														29			14		0	0	1	0	0
TNKS1BP1	85456	broad.mit.edu	37	11	57077411	57077411	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:57077411T>C	uc001njr.3	-	4	3086	c.2774A>G	c.(2773-2775)gAg>gGg	p.E925G	TNKS1BP1_uc001njs.3_Missense_Mutation_p.E925G|TNKS1BP1_uc009ymd.1_Missense_Mutation_p.E376G	NM_033396	NP_203754	Q9C0C2	TB182_HUMAN	Homo sapiens tankyrase 1 binding protein 1, 182kDa (TNKS1BP1), mRNA.	925	Acidic.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				CCAGTCCTGCTCATCGGCATC	0.572000														146			11		0	0	1	0	0
ARR3	407	broad.mit.edu	37	X	69495966	69495966	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:69495966C>T	uc004dyb.2	+	5	248	c.180C>T	c.(178-180)ggC>ggT	p.G60G	ARR3_uc004dya.3_Silent_p.G60G	NM_004312	NP_004303	P36575	ARRC_HUMAN	Homo sapiens arrestin 3, retinal (X-arrestin) (ARR3), mRNA.	60					signal transduction|visual perception	cytoplasm|soluble fraction				endometrium(3)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	16						TTCGCTATGGCCGTGATGACT	0.542000														24			16		0	0	1	0	0
KIAA1279	26128	broad.mit.edu	37	10	70775527	70775527	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:70775527A>C	uc001joy.3	+	6	1333	c.1221A>C	c.(1219-1221)aaA>aaC	p.K407N		NM_015634	NP_056449	Q96EK5	KBP_HUMAN	Homo sapiens KIAA1279 (KIAA1279), nuclear gene encoding mitochondrial protein, mRNA.	407					cell differentiation|mitochondrial transport|nervous system development	mitochondrion	kinesin binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	14						TTGAGGCAAAAGAGTTCTTTC	0.403000														142			11		0	0	1	0	0
GGT5	2687	broad.mit.edu	37	22	24622178	24622178	+	Silent	SNP	G	A	A	rs144798635		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:24622178G>A	uc002zzp.4	-	7	1512	c.1095C>T	c.(1093-1095)atC>atT	p.I365I	GGT5_uc002zzo.4_Silent_p.I365I|GGT5_uc002zzr.4_Silent_p.I333I|GGT5_uc002zzq.4_Silent_p.I333I|GGT5_uc011ajm.2_Silent_p.I288I|GGT5_uc011ajn.1_Non-coding_Transcript	NM_001099781	NP_001093251	P36269	GGT5_HUMAN	Homo sapiens gamma-glutamyltransferase 5 (GGT5), transcript variant 1, mRNA.	365					glutathione biosynthetic process|hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	integral to membrane|plasma membrane	acyltransferase activity|gamma-glutamyltransferase activity	p.I365I(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3)	28						CCCGGCCATCGATCTGTTGGC	0.692000														29			19		0	0	1	0	0
SEMA3D	223117	broad.mit.edu	37	7	84628908	84628908	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:84628908C>T	uc003uic.3	-	16	2222	c.2182G>A	c.(2182-2184)Gac>Aac	p.D728N	SEMA3D_uc010led.3_Missense_Mutation_p.D728N|SEMA3D_uc003uib.3_Missense_Mutation_p.D367N	NM_152754	NP_689967	O95025	SEM3D_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D (SEMA3D), mRNA.	728					cell differentiation|nervous system development	extracellular region|membrane	receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						CAGTACTGGTCGAGGCTGAAG	0.507000														69			21		0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126336616	126336616	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:126336616C>T	uc003ifj.4	+	4	6498	c.6498C>T	c.(6496-6498)aaC>aaT	p.N2166N	FAT4_uc011cgp.2_Silent_p.N464N	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	2166	Cadherin 21.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TTAATGAAAACACACTTACTG	0.388000														90			7		0	0	1	0	0
RSF1	51773	broad.mit.edu	37	11	77451833	77451833	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:77451833C>T	uc001oyn.3	-	3	641	c.521G>A	c.(520-522)aGa>aAa	p.R174K		NM_016578	NP_057662	Q96T23	RSF1_HUMAN	Homo sapiens remodeling and spacing factor 1 (RSF1), mRNA.	174					CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			TATGTACATTCTGACATTGTG	0.393000														88			5		0	0	1	0	0
NCOA6	23054	broad.mit.edu	37	20	33337721	33337721	+	Silent	SNP	C	T	T	rs149855221	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:33337721C>T	uc002xav.3	-	9	4848	c.2277G>A	c.(2275-2277)acG>acA	p.T759T	NCOA6_uc002xaw.3_Silent_p.T759T|NCOA6_uc021wcd.1_Silent_p.T759T|NCOA6_uc021wce.1_Silent_p.T759T|NCOA6_uc021wcf.1_Silent_p.T759T	NM_014071	NP_054790	Q14686	NCOA6_HUMAN	Homo sapiens nuclear receptor coactivator 6 (NCOA6), transcript variant 1, mRNA.	759	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				DNA recombination|DNA repair|DNA replication|brain development|cellular lipid metabolic process|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						ACATCTGTCCCGTAAACTGCA	0.542000														28			23		0	0	1	0	0
PCDHB3	56132	broad.mit.edu	37	5	140481938	140481938	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140481938T>C	uc003lio.3	+	0	1705	c.1705T>C	c.(1705-1707)Tcc>Ccc	p.S569P	BC016751_uc003lin.3_5'Flank	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	Homo sapiens protocadherin beta 3 (PCDHB3), mRNA.	569	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCAGAACGGCTCCGCGCCCTG	0.716000														51			5		0	0	1	0	0
ABCA6	23460	broad.mit.edu	37	17	67107013	67107013	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:67107013G>A	uc002jhw.1	-	16	2376	c.2201C>T	c.(2200-2202)gCt>gTt	p.A734V		NM_080284	NP_525023	Q8N139	ABCA6_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 6 (ABCA6), mRNA.	734					transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					TTTTAATTTAGCATCGGGGAT	0.303000														25			12		0	0	1	0	0
OR12D2	26529	broad.mit.edu	37	6	29365287	29365287	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:29365287C>T	uc003nmf.4	+	0	872	c.811C>T	c.(811-813)Cgg>Tgg	p.R271W		NM_013936	NP_039224	P58182	O12D2_HUMAN	Homo sapiens olfactory receptor, family 12, subfamily D, member 2 (OR12D2), mRNA.	271					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	31						GGACCAGGACCGGATTGTTGC	0.468000														150			13		0	0	1	0	0
SH3PXD2A	9644	broad.mit.edu	37	10	105362350	105362350	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:105362350G>A	uc010qqu.1	-	11	2437	c.2370C>T	c.(2368-2370)agC>agT	p.S790S	SH3PXD2A_uc010qqr.2_Intron|SH3PXD2A_uc010qqs.1_Silent_p.S682S|SH3PXD2A_uc010qqt.1_Silent_p.S724S|SH3PXD2A_uc009xxn.1_Silent_p.S682S|SH3PXD2A_uc001kxj.1_Silent_p.S847S	NM_014631	NP_055446	Q5TCZ1	SPD2A_HUMAN	Homo sapiens SH3 and PX domains 2A (SH3PXD2A), mRNA.	875					cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		ACCACCACCCGCTCTCCTGCT	0.617000														27			23		0	0	1	0	0
C1orf114	57821	broad.mit.edu	37	1	169366576	169366576	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:169366576G>A	uc001gga.1	-	4	1437	c.1269C>T	c.(1267-1269)caC>caT	p.H423H	C1orf114_uc001gfz.1_Silent_p.H422H|C1orf114_uc009wvq.1_Silent_p.H422H	NM_021179	NP_067002	Q5TID7	CA114_HUMAN	Homo sapiens chromosome 1 open reading frame 114 (C1orf114), mRNA.	423										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(3)	22	all_hematologic(923;0.208)					TCTGCTCTTCGTGCTTTTTTT	0.368000														29			23		0	0	1	0	0
RPL18A	6142	broad.mit.edu	37	19	17972951	17972951	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:17972951C>T	uc002nhp.2	+	2	282	c.247C>T	c.(247-249)Cgc>Tgc	p.R83C	SNORA68_uc002nhq.1_5'Flank	NM_000980	NP_000971	Q02543	RL18A_HUMAN	Homo sapiens ribosomal protein L18a (RPL18A), mRNA.	83				R -> S (in Ref. 2; CAA56788).	endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	RNA binding|protein binding|structural constituent of ribosome			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|upper_aerodigestive_tract(1)	5						GATCTGGCTGCGCTATGACTC	0.627000														35			13		0	0	1	0	0
CDKN2AIP	55602	broad.mit.edu	37	4	184366750	184366750	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:184366750C>A	uc003ivp.1	+	1	497	c.335C>A	c.(334-336)gCt>gAt	p.A112D	CDKN2AIP_uc003ivq.1_5'UTR	NM_017632	NP_060102	Q9NXV6	CARF_HUMAN	Homo sapiens CDKN2A interacting protein (CDKN2AIP), mRNA.	112					negative regulation of cell growth|positive regulation of signal transduction|regulation of protein stability	granular component|nucleoplasm	double-stranded RNA binding|p53 binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(1)	6		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-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;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		GTGACAGATGCTCCAACCTAT	0.363000														42			39		8.16277e-20	1.05176e-19	1	1	0
TUB	7275	broad.mit.edu	37	11	8117140	8117140	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:8117140G>A	uc001mga.3	+	4	642	c.493G>A	c.(493-495)Gca>Aca	p.A165T	TUB_uc010rbk.2_Missense_Mutation_p.A171T|TUB_uc001mfy.3_Missense_Mutation_p.A220T	NM_177972	NP_813977	P50607	TUB_HUMAN	Homo sapiens tubby homolog (mouse) (TUB), transcript variant 2, mRNA.	165					phagocytosis|positive regulation of phagocytosis|response to stimulus	cytoplasm|extracellular region|nucleus|plasma membrane				breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)		CGCCCAGGACGCAGGGGAGAC	0.667000														18			7		0	0	1	0	0
DMWD	1762	broad.mit.edu	37	19	46289657	46289657	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:46289657C>A	uc002pdj.1	-	2	1143	c.1097G>T	c.(1096-1098)gGc>gTc	p.G366V	DMWD_uc021uwc.1_Missense_Mutation_p.A20S|DMWD_uc010eko.1_Missense_Mutation_p.G51V	NM_004943	NP_004934	Q09019	DMWD_HUMAN	Homo sapiens dystrophia myotonica, WD repeat containing (DMWD), mRNA.	366					meiosis					central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236)		GGACTTGTGGCCATGGCCTCG	0.672000														41			28		3.73148e-12	4.59117e-12	1	1	0
ARHGAP25	9938	broad.mit.edu	37	2	69046261	69046261	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:69046261C>A	uc010fdg.3	+	8	1429	c.1010C>A	c.(1009-1011)cCt>cAt	p.P337H	ARHGAP25_uc010yql.2_Missense_Mutation_p.P297H|ARHGAP25_uc002sev.3_Missense_Mutation_p.P330H|ARHGAP25_uc002sew.3_Missense_Mutation_p.P329H|ARHGAP25_uc002sex.3_Missense_Mutation_p.P330H	NM_001007231	NP_001007232	P42331	RHG25_HUMAN	Homo sapiens Rho GTPase activating protein 25 (ARHGAP25), transcript variant 1, mRNA.	336	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						TCAGGGACTCCTCAGATCCAA	0.493000														242			22		3.28513e-13	4.08142e-13	1	1	0
ATM	472	broad.mit.edu	37	11	108121490	108121490	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:108121490C>A	uc001pkb.1	+	9	1683	c.1298C>A	c.(1297-1299)tCt>tAt	p.S433Y	ATM_uc009yxr.1_Missense_Mutation_p.S433Y	NM_000051	NP_000042	Q13315	ATM_HUMAN	Homo sapiens ataxia telangiectasia mutated (ATM), mRNA.	433					DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2/M transition DNA damage checkpoint|cell cycle arrest|cellular response to gamma radiation|double-strand break repair via homologous recombination|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein N-terminus binding|protein complex binding|protein dimerization activity			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		TGTGAGCTGTCTCCATTACTG	0.383000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)				96			14		0.00244969	0.00257145	1	1	0
PAF1	54623	broad.mit.edu	37	19	39880395	39880395	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:39880395G>A	uc002old.3	-	3	352	c.177C>T	c.(175-177)gtC>gtT	p.V59V	PAF1_uc010xuv.2_Intron|PAF1_uc002ole.1_Silent_p.V49V|MED29_uc002olf.3_5'Flank|MED29_uc010xux.2_5'Flank	NM_019088	NP_061961	Q8N7H5	PAF1_HUMAN	Homo sapiens Paf1, RNA polymerase II associated factor, homolog (S. cerevisiae) (PAF1), mRNA.	59					histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|urinary_tract(2)	17	all_cancers(60;9.14e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			CTTTGTACTGGACGAACCTGG	0.552000														82			36		0	0	1	0	0
CDYL	9425	broad.mit.edu	37	6	4952499	4952499	+	Splice_Site	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:4952499G>A	uc003mwi.3	+	8	1626	c.1495_splice	c.e8-1	p.A499_splice	CDYL_uc003mwj.3_Splice_Site_p.A445_splice|CDYL_uc003mwk.3_Splice_Site_p.A210_splice|CDYL_uc011dhx.2_Splice_Site_p.A313_splice|CDYL_uc011dhy.2_Splice_Site_p.A313_splice	NM_001143971	NP_001137443	Q9Y232	CDYL1_HUMAN	Homo sapiens chromodomain protein, Y-like (CDYL), transcript variant 5, mRNA.	499					regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	histone acetyltransferase activity			breast(2)|kidney(2)|large_intestine(9)|lung(13)|skin(1)|stomach(2)|urinary_tract(1)	30	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)		OV - Ovarian serous cystadenocarcinoma(45;0.182)		CTTCCTTGCAGGCAAACGAGA	0.562000														28			4		0	0	1	0	0
TOM1L1	10040	broad.mit.edu	37	17	52992099	52992099	+	Nonsense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:52992099G>T	uc002iud.2	+	5	773	c.598G>T	c.(598-600)Gaa>Taa	p.E200*	TOM1L1_uc002iub.3_Nonsense_Mutation_p.E165*|TOM1L1_uc002iuc.3_Nonsense_Mutation_p.E200*|TOM1L1_uc010dca.1_Nonsense_Mutation_p.E200*|TOM1L1_uc010wnb.1_Nonsense_Mutation_p.E193*|TOM1L1_uc010wnc.1_Nonsense_Mutation_p.E123*|TOM1L1_uc010dbz.2_Nonsense_Mutation_p.E123*|TOM1L1_uc010wnd.1_Intron|TOM1L1_uc010dcb.1_Non-coding_Transcript	NM_005486	NP_005477	O75674	TM1L1_HUMAN	Homo sapiens target of myb1 (chicken)-like 1 (TOM1L1), mRNA.	200	GAT.				intracellular protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	Golgi stack|cytosol|endosome membrane|lysosome	SH3 domain binding|ubiquitin binding	p.P199Q(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	15						ATTGGTCCCAGAACAGGtaac	0.383000														85			73		1.26778e-28	1.66905e-28	1	1	0
EPB41L4A	64097	broad.mit.edu	37	5	111595639	111595639	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:111595639G>A	uc003kpv.1	-	7	954	c.680C>T	c.(679-681)cCg>cTg	p.P227L		NM_022140	NP_071423	Q9HCS5	E41LA_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1 like 4A (EPB41L4A), mRNA.	227	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		AACACCAACCGGAGTTAATCC	0.363000														56			34		0	0	1	0	0
SLC9C1	285335	broad.mit.edu	37	3	111936295	111936295	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:111936295G>A	uc003dyu.3	-	14	2006	c.1784C>T	c.(1783-1785)cCa>cTa	p.P595L	SLC9C1_uc011bhu.2_5'UTR|SLC9C1_uc010hqc.3_Missense_Mutation_p.P547L	NM_183061	NP_898884	Q4G0N8	S9A10_HUMAN	Homo sapiens solute carrier family 9, member 10 (SLC9A10), mRNA.	595					cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity										TTACTTTGATGGGCCCTCTTT	0.289000														51			21		0	0	1	0	0
AKAP13	11214	broad.mit.edu	37	15	86123477	86123477	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:86123477G>T	uc002blv.1	+	6	2348	c.2178G>T	c.(2176-2178)caG>caT	p.Q726H	AKAP13_uc002blt.1_Missense_Mutation_p.Q726H|AKAP13_uc002blu.1_Missense_Mutation_p.Q726H|AKAP13_uc010bne.1_5'Flank	NM_007200	NP_009131	Q12802	AKP13_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 13 (AKAP13), transcript variant 2, mRNA.	726					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	Rho guanyl-nucleotide exchange factor activity|cAMP-dependent protein kinase activity|metal ion binding|protein binding|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						GGGATACCCAGGAACGTGCGG	0.478000														34			31		7.26314e-15	9.11658e-15	1	1	0
RFX2	5990	broad.mit.edu	37	19	6004263	6004263	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:6004263G>A	uc002meb.3	-	12	1718	c.1449C>T	c.(1447-1449)ggC>ggT	p.G483G	RFX2_uc002mec.3_Silent_p.G458G	NM_000635	NP_000626	P48378	RFX2_HUMAN	Homo sapiens regulatory factor X, 2 (influences HLA class II expression) (RFX2), transcript variant 1, mRNA.	483					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						TTGTCAACCAGCCTTCCAAGC	0.577000														58			50		0	0	1	0	0
HNRNPR	10236	broad.mit.edu	37	1	23650213	23650213	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:23650213T>C	uc001bgr.4	-	5	670	c.511A>G	c.(511-513)Aaa>Gaa	p.K171E	HNRNPR_uc010odw.2_Missense_Mutation_p.K133E|HNRNPR_uc009vql.3_Missense_Mutation_p.K32E|HNRNPR_uc001bgp.4_Missense_Mutation_p.K171E|HNRNPR_uc001bgs.4_Missense_Mutation_p.K70E|HNRNPR_uc009vqk.3_Missense_Mutation_p.K70E|HNRNPR_uc010odx.2_Intron	NM_005826	NP_001095867	O43390	HNRPR_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein R (HNRNPR), transcript variant 2, mRNA.	171	RRM 1.					catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	RNA binding|nucleotide binding|protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19)		CTTGGTATTTTGCCTACAAAT	0.408000														62			7		0	0	1	0	0
GABRB2	2561	broad.mit.edu	37	5	160721284	160721284	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:160721284C>A	uc003lys.1	-	10	1561	c.1343G>T	c.(1342-1344)aGg>aTg	p.R448M	GABRB2_uc011deh.1_Missense_Mutation_p.R249M|GABRB2_uc003lyr.1_Missense_Mutation_p.R410M|GABRB2_uc003lyt.1_Missense_Mutation_p.R410M	NM_021911	NP_068711	P47870	GBRB2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 2 (GABRB2), transcript variant 1, mRNA.	448					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	AAAACTATGCCTGGGCAACCC	0.537000														30			32		2.09667e-21	2.71394e-21	1	1	0
ZNF441	126068	broad.mit.edu	37	19	11890911	11890911	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:11890911G>A	uc010dyj.3	+	3	466	c.272G>A	c.(271-273)aGt>aAt	p.S91N	ZNF441_uc002msn.4_Missense_Mutation_p.S47N	NM_152355	NP_689568	Q8N8Z8	ZN441_HUMAN	Homo sapiens zinc finger protein 441 (ZNF441), mRNA.	91					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ACTCAAGACAGTATTGTGAAC	0.398000														46			26		0	0	1	0	0
PTPN3	5774	broad.mit.edu	37	9	112166788	112166788	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:112166788C>A	uc004bed.2	-	18	2005	c.1893G>T	c.(1891-1893)gaG>gaT	p.E631D	PTPN3_uc004beb.2_Missense_Mutation_p.E500D|PTPN3_uc004bec.2_Missense_Mutation_p.E455D|PTPN3_uc010mtu.2_Non-coding_Transcript|PTPN3_uc011lwg.1_Missense_Mutation_p.E586D|PTPN3_uc011lwh.1_Missense_Mutation_p.E477D|PTPN3_uc011lwd.1_Missense_Mutation_p.E99D|PTPN3_uc011lwe.1_Missense_Mutation_p.E344D|PTPN3_uc011lwf.1_Missense_Mutation_p.E299D	NM_002829	NP_001138843	P26045	PTN3_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 3 (PTPN3), transcript variant 1, mRNA.	631					negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						CCATGGATCCCTCCAAAGTGT	0.552000														57			8		0.27861	0.27975	1	1	0
SEC24D	9871	broad.mit.edu	37	4	119662179	119662179	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:119662179C>A	uc003ici.4	-	15	2281	c.2009G>T	c.(2008-2010)aGa>aTa	p.R670I	SEC24D_uc003ich.4_Non-coding_Transcript|SEC24D_uc003icj.4_Missense_Mutation_p.R671I|SEC24D_uc003icl.2_Non-coding_Transcript	NM_014822	NP_055637	O94855	SC24D_HUMAN	Homo sapiens SEC24 family, member D (S. cerevisiae) (SEC24D), mRNA.	670					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|Golgi membrane|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	zinc ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						AAATTGTTGTCTATCCAAGTG	0.308000														5			10		0.000442599	0.000473562	1	1	0
ACADL	33	broad.mit.edu	37	2	211057568	211057568	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:211057568G>T	uc002vdz.4	-	9	1387	c.1159C>A	c.(1159-1161)Cat>Aat	p.H387N		NM_001608	NP_001599	P28330	ACADL_HUMAN	Homo sapiens acyl-CoA dehydrogenase, long chain (ACADL), nuclear gene encoding mitochondrial protein, mRNA.	387					carnitine catabolic process|carnitine metabolic process, CoA-linked|fatty acid beta-oxidation using acyl-CoA dehydrogenase|negative regulation of fatty acid biosynthetic process|negative regulation of fatty acid oxidation|regulation of cholesterol metabolic process|temperature homeostasis	mitochondrial matrix	long-chain-acyl-CoA dehydrogenase activity|palmitoyl-CoA oxidase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	14		Renal(323;0.202)		Epithelial(149;0.00631)|Lung(261;0.0438)|LUSC - Lung squamous cell carcinoma(261;0.0466)|all cancers(144;0.0621)		CAACCTCCATGGAGCTGTACA	0.353000														55			4		0.00909568	0.00940365	1	1	0
NPAT	4863	broad.mit.edu	37	11	108047023	108047023	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:108047023G>A	uc001pjz.4	-	11	1184	c.1082C>T	c.(1081-1083)gCa>gTa	p.A361V	NPAT_uc001pka.3_Missense_Mutation_p.A156V	NM_002519	NP_002510	Q14207	NPAT_HUMAN	Homo sapiens nuclear protein, ataxia-telangiectasia locus (NPAT), mRNA.	361					positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity	p.A361A(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		AGTTTCATCTGCTAAGACTAT	0.289000														38			24		0	0	1	0	0
ATXN7L2	127002	broad.mit.edu	37	1	110032730	110032730	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:110032730C>T	uc001dxr.3	+	7	1231	c.1216C>T	c.(1216-1218)Cgg>Tgg	p.R406W	ATXN7L2_uc001dxs.3_Missense_Mutation_p.R33W	NM_153340	NP_699171	Q5T6C5	AT7L2_HUMAN	Homo sapiens ataxin 7-like 2 (ATXN7L2), mRNA.	406										breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)	17		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)		TTATGCAACCCGGCCCCCACG	0.667000														62			25		0	0	1	0	0
DHX30	22907	broad.mit.edu	37	3	47889410	47889410	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:47889410G>A	uc003cru.3	+	13	2676	c.2250G>A	c.(2248-2250)ggG>ggA	p.G750G	DHX30_uc003crt.3_Silent_p.G711G|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.	750	Helicase C-terminal.					mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|RNA binding|protein 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)		TGGACAGTGGGCTGCACAAGG	0.577000														62			4		0	0	1	0	0
ATRX	546	broad.mit.edu	37	X	76918942	76918942	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:76918942C>T	uc004ecp.4	-	11	4281	c.4049G>A	c.(4048-4050)gGa>gAa	p.G1350E	ATRX_uc004ecq.4_Missense_Mutation_p.G1312E|ATRX_uc004eco.4_Missense_Mutation_p.G1135E|ATRX_uc004ecr.2_Missense_Mutation_p.G1282E	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	1350					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TCCAGATTCTCCGTCACTCAC	0.358000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome							41			40		0	0	1	0	0
TDRD9	122402	broad.mit.edu	37	14	104492412	104492412	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:104492412C>A	uc001yom.4	+	26	2990	c.2960C>A	c.(2959-2961)tCt>tAt	p.S987Y	TDRD9_uc001yon.4_Missense_Mutation_p.S725Y	NM_153046	NP_694591	Q8NDG6	TDRD9_HUMAN	Homo sapiens tudor domain containing 9 (TDRD9), mRNA.	987	Tudor.				DNA methylation involved in gamete generation|cell differentiation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	nucleus|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)				GGCAATAAGTCTCATGTAGAT	0.393000														40			16		2.4624e-09	2.92908e-09	1	1	0
RYR3	6263	broad.mit.edu	37	15	34123219	34123219	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:34123219C>A	uc001zhi.3	+	85	11460	c.11390C>A	c.(11389-11391)tCt>tAt	p.S3797Y	RYR3_uc010bar.3_Missense_Mutation_p.S3792Y	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	3797					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		ATTGATGAATCTGGACAGCAC	0.383000														23			16		1.3612e-06	1.54683e-06	1	1	0
TRAF4	9618	broad.mit.edu	37	17	27075049	27075049	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:27075049C>A	uc002hcs.3	+	3	423	c.315C>A	c.(313-315)acC>acA	p.T105T	TRAF4_uc002hcq.1_Silent_p.T105T	NM_004295	NP_004286	Q9BUZ4	TRAF4_HUMAN	Homo sapiens TNF receptor-associated factor 4 (TRAF4), mRNA.	105					apoptosis|positive regulation of JNK cascade|positive regulation of protein homodimerization activity|positive regulation of protein kinase activity|regulation of apoptosis|signal transduction	cytoskeleton|nucleus|perinuclear region of cytoplasm|tight junction	DNA binding|WW domain binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10	Lung NSC(42;0.01)		Epithelial(11;3.26e-05)|all cancers(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.235)			ACCTGAATACCTGCAGCTTCA	0.592000														40			4		0.00024832	0.000267289	1	1	0
TGFBR2	7048	broad.mit.edu	37	3	30713915	30713915	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:30713915G>A	uc003ceo.3	+	3	1622	c.1240G>A	c.(1240-1242)Gct>Act	p.A414T	TGFBR2_uc021wut.1_Missense_Mutation_p.A292T|TGFBR2_uc003cen.3_Missense_Mutation_p.A439T	NM_003242	NP_003233	P37173	TGFR2_HUMAN	Homo sapiens transforming growth factor, beta receptor II (70/80kDa) (TGFBR2), transcript variant 2, mRNA.	414	Protein kinase.				activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of NK T cell differentiation|positive regulation of T cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of reactive oxygen species metabolic process|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|SMAD binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						GGATGACCTGGCTAACAGTGG	0.522000														100			65		0	0	1	0	0
FUT1	2523	broad.mit.edu	37	19	49254308	49254308	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:49254308G>T	uc002pkk.3	-	3	1206	c.231C>A	c.(229-231)ctC>ctA	p.L77L	FUT1_uc021uwy.1_Silent_p.L77L	NM_000148	NP_000139	P19526	FUT1_HUMAN	Homo sapiens fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, H blood group) (FUT1), mRNA.	77					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to plasma membrane|membrane fraction	galactoside 2-alpha-L-fucosyltransferase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(3)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	17		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000135)|all cancers(93;0.000354)|Epithelial(262;0.0191)|GBM - Glioblastoma multiforme(486;0.0222)		AGGTGCCGGAGAGGGAAGCAG	0.662000														31			8		3.09899e-07	3.55757e-07	1	1	0
KIDINS220	57498	broad.mit.edu	37	2	8957802	8957802	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:8957802C>T	uc002qzc.2	-	3	434	c.252G>A	c.(250-252)gtG>gtA	p.V84V	KIDINS220_uc010yiv.1_Intron|KIDINS220_uc002qzd.2_Silent_p.V42V|KIDINS220_uc010yiw.1_Silent_p.V84V	NM_020738	NP_065789	Q9ULH0	KDIS_HUMAN	Homo sapiens kinase D-interacting substrate, 220kDa (KIDINS220), mRNA.	84					activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CTACGATGTGCACATGCCCTT	0.333000														59			35		0	0	1	0	0
TCOF1	6949	broad.mit.edu	37	5	149759187	149759187	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:149759187G>T	uc003lry.3	+	16	2859	c.2751G>T	c.(2749-2751)ggG>ggT	p.G917G	TCOF1_uc003lrw.3_Silent_p.G917G|TCOF1_uc003lrz.3_Silent_p.G917G|TCOF1_uc011dch.2_Silent_p.G917G|TCOF1_uc003lrx.3_Silent_p.G840G|TCOF1_uc003lsa.3_Silent_p.G840G|TCOF1_uc011dci.1_Silent_p.G346G	NM_001135243	NP_001128715	Q13428	TCOF_HUMAN	Homo sapiens Treacher Collins-Franceschetti syndrome 1 (TCOF1), transcript variant 4, mRNA.	917					skeletal system development	nucleolus	protein binding|transporter activity			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CACCTCCTGGGAAGACAGGGC	0.637000														63			5		0.014758	0.0151755	1	1	0
FBXL18	80028	broad.mit.edu	37	7	5529774	5529774	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:5529774C>T	uc003soo.2	-	4	2164	c.2070G>A	c.(2068-2070)acG>acA	p.T690T	FBXL18_uc003son.4_Intron	NM_024963	NP_079239	Q96ME1	FXL18_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 18 (FBXL18), mRNA.	690									FBXL18/RNF216(2)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)	21		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)		TGGCTCGAGACGTCCTGGCTG	0.607000														14			4		0	0	1	0	0
STOML2	30968	broad.mit.edu	37	9	35100655	35100655	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:35100655C>A	uc003zwi.3	-	8	936	c.873G>T	c.(871-873)aaG>aaT	p.K291N	STOML2_uc011lou.2_Missense_Mutation_p.K246N	NM_013442	NP_038470	Q9UJZ1	STML2_HUMAN	Homo sapiens stomatin (EPB72)-like 2 (STOML2), mRNA.	291						cytoskeleton	receptor binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1)	16			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			TGTTGGAGTCCTTGGCCAGTT	0.547000														95			43		7.05121e-23	9.16994e-23	1	1	0
ILF3	3609	broad.mit.edu	37	19	10794150	10794150	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10794150G>A	uc002mpn.3	+	14	2100	c.1783G>A	c.(1783-1785)Gcc>Acc	p.A595T	ILF3_uc010xli.1_Missense_Mutation_p.A193T|ILF3_uc002mpm.2_Missense_Mutation_p.A599T|ILF3_uc002mpl.2_Missense_Mutation_p.A595T|ILF3_uc002mpk.2_Missense_Mutation_p.A595T|ILF3_uc002mpo.3_Missense_Mutation_p.A599T|ILF3_uc002mpp.3_Missense_Mutation_p.A420T|ILF3_uc002mpq.3_5'Flank	NM_012218	NP_036350	Q12906	ILF3_HUMAN	Homo sapiens interleukin enhancer binding factor 3, 90kDa (ILF3), transcript variant 1, mRNA.	595					M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			CACCCCTCTCGCCCTTGATGC	0.552000														42			25		0	0	1	0	0
APOL5	80831	broad.mit.edu	37	22	36122838	36122838	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:36122838G>T	uc003aof.3	+	2	723	c.723G>T	c.(721-723)aaG>aaT	p.K241N		NM_030642	NP_085145	Q9BWW9	APOL5_HUMAN	Homo sapiens apolipoprotein L, 5 (APOL5), mRNA.	241					lipid metabolic process|lipid transport|lipoprotein metabolic process	cytoplasm|extracellular region	high-density lipoprotein particle binding|lipid binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1)	19						AGGGCATCAAGGATCTTCATG	0.458000														154			19		1.67942e-08	1.97205e-08	1	1	0
FBXO6	26270	broad.mit.edu	37	1	11733805	11733805	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:11733805A>C	uc001aso.3	+	5	945	c.779A>C	c.(778-780)aAg>aCg	p.K260T		NM_018438	NP_060908	Q9NRD1	FBX6_HUMAN	Homo sapiens F-box protein 6 (FBXO6), mRNA.	260					DNA damage checkpoint|DNA repair|ER-associated protein catabolic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|response to unfolded protein	SCF ubiquitin ligase complex|cytoplasm	glycoprotein binding			breast(1)|large_intestine(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(2)	6	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.25e-06)|COAD - Colon adenocarcinoma(227;0.000251)|BRCA - Breast invasive adenocarcinoma(304;0.000297)|Kidney(185;0.000747)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		GTCAGCCCCAAGATGACCAGG	0.617000														30			22		0	0	1	0	0
FAM55A	120400	broad.mit.edu	37	11	114401047	114401047	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:114401047G>A	uc001ppa.3	-	2	674	c.257C>T	c.(256-258)gCt>gTt	p.A86V	FAM55A_uc010rxd.2_5'UTR|FAM55A_uc001ppb.1_Missense_Mutation_p.A228V	NM_152315	NP_689528	Q8N323	FA55A_HUMAN	Homo sapiens family with sequence similarity 55, member A (FAM55A), mRNA.	228						extracellular region				breast(1)|endometrium(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	17		all_cancers(61;8.53e-16)|all_epithelial(67;1.71e-08)|all_hematologic(158;3.05e-05)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0194)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;3.02e-06)|Epithelial(105;0.000144)|all cancers(92;0.00106)		ACAGAGTTCAGCATTTGAGTT	0.443000														49			27		0	0	1	0	0
ATP5A1	498	broad.mit.edu	37	18	43667331	43667331	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:43667331G>A	uc002lbr.1	-	6	1017	c.927C>T	c.(925-927)atC>atT	p.I309I	ATP5A1_uc010dnl.1_Silent_p.I259I|ATP5A1_uc002lbs.1_Silent_p.I259I|ATP5A1_uc002lbt.1_Silent_p.I309I	NM_004046	NP_004037	P25705	ATPA_HUMAN	Homo sapiens ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle (ATP5A1), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	309					ATP hydrolysis coupled proton transport|embryo development|lipid metabolic process|negative regulation of endothelial cell proliferation|respiratory electron transport chain	mitochondrial matrix|plasma membrane	ATP binding|MHC class I protein binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|skin(1)|urinary_tract(1)	22						CGTCATAGATGATCAAAGCAT	0.398000														55			43		0	0	1	0	0
HERC2P3	283755	broad.mit.edu	37	15	20643893	20643893	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:20643893G>T	uc001ytg.3	-	22	3586	c.2877C>A	c.(2875-2877)ttC>ttA	p.F959L	HERC2P3_uc010tyx.1_Non-coding_Transcript|HERC2P3_uc001yth.4_Missense_Mutation_p.F959L					Homo sapiens hect domain and RLD 2 pseudogene 3 (HERC2P3), non-coding RNA.											central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						GCATGTCAGAGAACTGCACGG	0.502000														15			16		0.00152264	0.00160745	1	1	0
PLCL1	5334	broad.mit.edu	37	2	198948636	198948636	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:198948636A>G	uc010fsp.3	+	1	793	c.395A>G	c.(394-396)aAc>aGc	p.N132S	PLCL1_uc002uuv.4_Missense_Mutation_p.N53S	NM_006226	NP_006217	Q15111	PLCL1_HUMAN	Homo sapiens phospholipase C-like 1 (PLCL1), mRNA.	132	Interaction with PPP1C.|PH.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	CGCATTTACAACCGTTTTTTC	0.443000														25			8		0	0	1	0	0
PHRF1	57661	broad.mit.edu	37	11	587330	587330	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:587330G>A	uc001lqe.3	+	3	417	c.286G>A	c.(286-288)Gct>Act	p.A96T	PHRF1_uc010qwc.2_Missense_Mutation_p.A96T|PHRF1_uc010qwd.2_Missense_Mutation_p.A95T|PHRF1_uc010qwe.2_Missense_Mutation_p.A92T	NM_020901	NP_065952	Q9P1Y6	PHRF1_HUMAN	Homo sapiens PHD and ring finger domains 1 (PHRF1), mRNA.	96							RNA polymerase binding|zinc ion binding			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						ACTGGAAGCCGCTGGCTCTTT	0.557000														31			14		0	0	1	0	0
ARID2	196528	broad.mit.edu	37	12	46246095	46246095	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:46246095G>T	uc001ros.1	+	14	4189	c.4189G>T	c.(4189-4191)Ggg>Tgg	p.G1397W	ARID2_uc001ror.3_Missense_Mutation_p.G1397W|ARID2_uc009zkg.1_Missense_Mutation_p.G853W|ARID2_uc009zkh.1_Missense_Mutation_p.G1024W|ARID2_uc001rou.1_Missense_Mutation_p.G731W	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	Homo sapiens AT rich interactive domain 2 (ARID, RFX-like) (ARID2), mRNA.	1397					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		GGAACCACAAGGGACTTTAGA	0.368000			"""N, S, F"""		hepatocellular carcinoma									45			25		3.28513e-13	4.08142e-13	1	1	0
TAF1D	79101	broad.mit.edu	37	11	93470275	93470275	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:93470275T>G	uc001ped.3	-	3	833	c.590A>C	c.(589-591)aAa>aCa	p.K197T	TAF1D_uc001pec.3_5'Flank|TAF1D_uc001pdz.3_Non-coding_Transcript|SNORA40_uc009ywh.3_5'Flank	NM_024116	NP_077021	Q9H5J8	TAF1D_HUMAN	Homo sapiens TATA box binding protein (TBP)-associated factor, RNA polymerase I, D, 41kDa (TAF1D), mRNA.	197					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			large_intestine(1)|lung(3)|prostate(1)|skin(2)	7						ATCCAAAAATTTGTATCTACG	0.308000														14			11		0	0	1	0	0
SLC6A4	6532	broad.mit.edu	37	17	28530324	28530324	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:28530324G>A	uc002hey.4	-	13	2228	c.1684C>T	c.(1684-1686)Caa>Taa	p.Q562*	SLC6A4_uc010csg.3_Non-coding_Transcript	NM_001045	NP_001036	P31645	SC6A4_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, serotonin), member 4 (SLC6A4), mRNA.	562					response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	Rab GTPase binding|actin filament binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)	AGTCGTAGTTGTGGCGGGCTC	0.363000														73			37		0	0	1	0	0
EFHC2	80258	broad.mit.edu	37	X	44091870	44091870	+	Nonsense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:44091870C>A	uc004dgb.4	-	9	1566	c.1477G>T	c.(1477-1479)Gaa>Taa	p.E493*	EFHC2_uc022bvg.1_Nonsense_Mutation_p.E71*	NM_025184	NP_079460	Q5JST6	EFHC2_HUMAN	Homo sapiens EF-hand domain (C-terminal) containing 2 (EFHC2), mRNA.	493	DM10 3.						calcium ion binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	29						TTAAAGACTTCTTGTCCAGGC	0.383000														8			6		0.00198382	0.00208369	1	1	0
DTL	51514	broad.mit.edu	37	1	212254006	212254006	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:212254006G>T	uc009xdc.3	+	12	1489	c.1175G>T	c.(1174-1176)aGa>aTa	p.R392I	DTL_uc010ptb.2_Missense_Mutation_p.R350I|DTL_uc001hiz.4_Missense_Mutation_p.R121I	NM_016448	NP_057532	Q9NZJ0	DTL_HUMAN	Homo sapiens denticleless homolog (Drosophila) (DTL), mRNA.	392					DNA replication|G2/M transition DNA damage checkpoint|protein monoubiquitination|protein polyubiquitination|response to UV|translesion synthesis|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|centrosome|nuclear membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(81;0.00796)|all cancers(67;0.0385)|Epithelial(68;0.102)		CGCTTGAATAGAGGCTTAGAG	0.413000														203			42		1.62957e-23	2.1242e-23	1	1	0
ABI3BP	25890	broad.mit.edu	37	3	100489769	100489769	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:100489769G>T	uc003dun.3	-	28	2511	c.2426C>A	c.(2425-2427)cCt>cAt	p.P809H	ABI3BP_uc003duj.3_Missense_Mutation_p.P389H|ABI3BP_uc003duk.3_Missense_Mutation_p.P518H|ABI3BP_uc003dul.3_Missense_Mutation_p.P639H|ABI3BP_uc011bhd.2_Missense_Mutation_p.P763H|ABI3BP_uc003dum.3_Missense_Mutation_p.P220H	NM_015429	NP_056244	Q7Z7G0	TARSH_HUMAN	Homo sapiens ABI family, member 3 (NESH) binding protein (ABI3BP), mRNA.	809						extracellular space		p.K809K(1)		central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						ACTGTTGTCAGGCTTTTGGAT	0.488000														80			6		3.59834e-05	3.95114e-05	1	1	0
TECTA	7007	broad.mit.edu	37	11	121058547	121058547	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:121058547G>T	uc010rzo.2	+	19	6006	c.6006G>T	c.(6004-6006)caG>caT	p.Q2002H		NM_005422	NP_005413	O75443	TECTA_HUMAN	Homo sapiens tectorin alpha (TECTA), mRNA.	2002	ZP.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		ATAGGTGTCAGAACCTCAAAG	0.398000														116			13		7.03913e-09	8.30711e-09	1	1	0
SNRK	54861	broad.mit.edu	37	3	43389476	43389476	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:43389476C>T	uc003cms.4	+	6	2057	c.1725C>T	c.(1723-1725)ggC>ggT	p.G575G	SNRK_uc003cmt.4_Silent_p.G575G|SNRK_uc010hik.3_Silent_p.G575G|SNRK_uc011azr.2_Silent_p.G369G	NM_017719	NP_060189	Q9NRH2	SNRK_HUMAN	Homo sapiens SNF related kinase (SNRK), transcript variant 1, mRNA.	575					myeloid cell differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(5)|prostate(1)|skin(2)|stomach(1)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792)		GGCCCCCTGGCAGTGAGGGGG	0.632000														52			5		0	0	1	0	0
ARFGEF1	10565	broad.mit.edu	37	8	68116985	68116985	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:68116985G>T	uc003xxo.2	-	34	5279	c.4889C>A	c.(4888-4890)aCt>aAt	p.T1630N	ARFGEF1_uc003xxl.1_Missense_Mutation_p.T1084N|ARFGEF1_uc003xxm.2_Missense_Mutation_p.T33N|ARFGEF1_uc003xxn.2_Intron|ARFGEF1_uc003xxp.1_5'Flank	NM_006421	NP_006412	Q9Y6D6	BIG1_HUMAN	Homo sapiens ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited) (ARFGEF1), mRNA.	1630					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			GTTGTCGATAGTCTGGATGAG	0.443000														91			6		0.0215528	0.0220531	1	1	0
SLC20A1	6574	broad.mit.edu	37	2	113420496	113420496	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:113420496G>A	uc002tib.3	+	10	2473	c.1934G>A	c.(1933-1935)cGt>cAt	p.R645H		NM_005415	NP_005406	Q8WUM9	S20A1_HUMAN	Homo sapiens solute carrier family 20 (phosphate transporter), member 1 (SLC20A1), mRNA.	645					phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to plasma membrane	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3)	28						GTTGACTGGCGTCTCTTTCGT	0.483000														50			30		0	0	1	0	0
PCDH7	5099	broad.mit.edu	37	4	30725518	30725518	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:30725518G>T	uc003gsk.1	+	0	3482	c.2474G>T	c.(2473-2475)gGg>gTg	p.G825V	PCDH7_uc011bxx.2_Missense_Mutation_p.G825V|PCDH7_uc021xnd.1_Missense_Mutation_p.G825V|PCDH7_uc021xnc.1_Missense_Mutation_p.G825V	NM_002589	NP_002580	O60245	PCDH7_HUMAN	Homo sapiens protocadherin 7 (PCDH7), transcript variant a, mRNA.	825	Cadherin 7.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						AATGACAGTGGGCAGCCTTCC	0.473000														19			6		0.00116845	0.00123466	1	1	0
SPACA1	81833	broad.mit.edu	37	6	88763681	88763681	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:88763681G>A	uc003pmn.3	+	1	343	c.226G>A	c.(226-228)Gtc>Atc	p.V76I		NM_030960	NP_112222	Q9HBV2	SACA1_HUMAN	Homo sapiens sperm acrosome associated 1 (SPACA1), mRNA.	76						integral to membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	20		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.11)		TAGGAATGTCGTCAAAGAAGT	0.348000														40			5		0	0	1	0	0
ARMC8	25852	broad.mit.edu	37	3	137982647	137982647	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:137982647C>T	uc003esa.1	+	13	1526	c.1159C>T	c.(1159-1161)Cgg>Tgg	p.R387W	NME9_uc003esd.1_Intron|NME9_uc010huf.1_Intron|NME9_uc003ese.1_Intron|ARMC8_uc011bmf.1_Missense_Mutation_p.R370W|ARMC8_uc011bmg.1_Missense_Mutation_p.R334W|ARMC8_uc011bmh.1_Missense_Mutation_p.R328W|ARMC8_uc003esb.1_Missense_Mutation_p.R359W|ARMC8_uc003esc.1_Missense_Mutation_p.R159W|ARMC8_uc003esf.1_5'UTR	NM_015396	NP_056211	Q8IUR7	ARMC8_HUMAN	Homo sapiens armadillo repeat containing 8 (ARMC8), transcript variant 2, mRNA.	401							binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(5)|upper_aerodigestive_tract(1)	16						TGTCAAGGTGCGGTTAGCTGC	0.393000														84			66		0	0	1	0	0
EPHA2	1969	broad.mit.edu	37	1	16456915	16456915	+	Splice_Site	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:16456915C>A	uc001aya.2	-	15	2631	c.2476_splice	c.e15-1	p.V826_splice		NM_004431	NP_004422	P29317	EPHA2_HUMAN	Homo sapiens EPH receptor A2 (EPHA2), mRNA.	826	Mediates interaction with ARHGEF16 and ELMO2.|Protein kinase.				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	CTTTCATCACCTGGCGGGGCA	0.632000														33			5		0.014758	0.0151755	1	1	0
TNC	3371	broad.mit.edu	37	9	117783498	117783498	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:117783498C>T	uc004bjj.4	-	27	6956	c.6544G>A	c.(6544-6546)Gct>Act	p.A2182T	TNC_uc010mvf.3_Missense_Mutation_p.A1909T	NM_002160	NP_002151	P24821	TENA_HUMAN	Homo sapiens tenascin C (TNC), mRNA.	2182	Fibrinogen C-terminal.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						TTCATCTCAGCAAACTGGATT	0.488000														46			7		0	0	1	0	0
PLXNA3	55558	broad.mit.edu	37	X	153695959	153695959	+	Silent	SNP	G	A	A	rs142993803		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153695959G>A	uc004flm.3	+	19	3686	c.3513G>A	c.(3511-3513)ccG>ccA	p.P1171P		NM_017514	NP_059984	P51805	PLXA3_HUMAN	Homo sapiens plexin A3 (PLXNA3), mRNA.	1171	IPT/TIG 4.				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GAGGCCAGCCGTGTTCGCTCA	0.647000														15			5		0	0	1	0	0
KCNK7	10089	broad.mit.edu	37	11	65361297	65361297	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:65361297A>G	uc001oes.3	-	1	592	c.368T>C	c.(367-369)aTg>aCg	p.M123T	KCNK7_uc001oeq.3_Missense_Mutation_p.M123T|KCNK7_uc001oer.3_Missense_Mutation_p.M123T|KCNK7_uc001oeu.3_Missense_Mutation_p.M123T	NM_033347	NP_203133	Q9Y2U2	KCNK7_HUMAN	Homo sapiens potassium channel, subfamily K, member 7 (KCNK7), transcript variant A, mRNA.	123						integral to membrane	potassium channel activity|voltage-gated ion channel activity			endometrium(1)|liver(1)|lung(1)	3						TGCATAGACCATGCAGAAGGC	0.627000											OREG0021083	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		61			6		0	0	1	0	0
GAPVD1	26130	broad.mit.edu	37	9	128124975	128124975	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:128124975C>T	uc004bpp.3	+	26	4574	c.4414C>T	c.(4414-4416)Cag>Tag	p.Q1472*	GAPVD1_uc004bpq.3_Nonsense_Mutation_p.Q1445*|GAPVD1_uc010mwx.3_Nonsense_Mutation_p.Q1463*|GAPVD1_uc004bpr.3_Nonsense_Mutation_p.Q1424*|GAPVD1_uc004bps.3_Nonsense_Mutation_p.Q1418*|GAPVD1_uc004bpt.3_Nonsense_Mutation_p.Q478*	NM_015635	NP_056450	Q14C86	GAPD1_HUMAN	Homo sapiens GTPase activating protein and VPS9 domains 1 (GAPVD1), mRNA.	1463	VPS9.				endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						TTGGTGGATGCAGTTCACAGC	0.458000														38			34		0	0	1	0	0
CHST6	4166	broad.mit.edu	37	16	75513169	75513169	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:75513169C>A	uc021tlj.1	-	0	558	c.558G>T	c.(556-558)ccG>ccT	p.P186P	CHST6_uc002fef.3_Silent_p.P186P|CHST6_uc002feg.1_Non-coding_Transcript|CHST6_uc002feh.1_Silent_p.P186P	NM_021615	NP_067628	Q9GZX3	CHST6_HUMAN	Homo sapiens carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6 (CHST6), mRNA.	186					N-acetylglucosamine metabolic process|keratan sulfate biosynthetic process	Golgi membrane|integral to membrane	N-acetylglucosamine 6-O-sulfotransferase activity			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						CGCTGAGCAGCGGGTAGAGCA	0.706000														40			41		1.57945e-13	1.96685e-13	1	1	0
GLIPR1	11010	broad.mit.edu	37	12	75875739	75875739	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:75875739C>T	uc001sxs.3	+	1	448	c.300C>T	c.(298-300)atC>atT	p.I100I	GLIPR1_uc009zsb.1_Silent_p.I100I	NM_006851	NP_006842	P48060	GLIP1_HUMAN	Homo sapiens GLI pathogenesis-related 1 (GLIPR1), mRNA.	100					cellular lipid metabolic process	extracellular region|integral to membrane				endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	14						GAGAGAACATCTGGACTGGGT	0.473000														78			35		0	0	1	0	0
ZNF529	57711	broad.mit.edu	37	19	37038281	37038281	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:37038281G>T	uc002oeh.4	-	4	1381	c.1179C>A	c.(1177-1179)ccC>ccA	p.P393P	ZNF529_uc010xth.2_Silent_p.P393P|ZNF529_uc010xti.2_Silent_p.P375P|ZNF529_uc002oeg.4_Silent_p.P288P	NM_020951	NP_001139122	Q6P280	ZN529_HUMAN	Homo sapiens zinc finger protein 529 (ZNF529), transcript variant 2, mRNA.	360					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1	Esophageal squamous(110;0.198)					TGCATTCATAGGGTTTCTTAC	0.388000														148			9		1.12685e-05	1.25391e-05	1	1	0
CUX2	23316	broad.mit.edu	37	12	111785894	111785894	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:111785894C>A	uc001tsa.2	+	21	4380	c.4226C>A	c.(4225-4227)tCt>tAt	p.S1409Y		NM_015267	NP_056082	O14529	CUX2_HUMAN	Homo sapiens cut-like homeobox 2 (CUX2), mRNA.	1409	Pro-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						CTCATGATGTCTGTGTCACCT	0.627000														33			4		0.150653	0.152248	1	1	0
RANBP2	5903	broad.mit.edu	37	2	109383804	109383804	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:109383804G>T	uc002tem.4	+	19	6935	c.6809G>T	c.(6808-6810)aGt>aTt	p.S2270I		NM_006267	NP_006258	P49792	RBP2_HUMAN	Homo sapiens RAN binding protein 2 (RANBP2), mRNA.	2270					carbohydrate metabolic process|glucose transport|mRNA transport|mitotic prometaphase|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	Ran GTPase binding|peptidyl-prolyl cis-trans isomerase activity|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						TTTAACTTCAGTTTTAAATCT	0.408000														170			91		1.04318e-46	1.3891e-46	1	1	0
SEC16A	9919	broad.mit.edu	37	9	139341773	139341773	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:139341773C>T	uc004chx.3	-	26	6912	c.6603G>A	c.(6601-6603)ggG>ggA	p.G2201G	SEC16A_uc004chp.3_5'Flank|SEC16A_uc004chq.3_Silent_p.G42G|SEC16A_uc011mea.2_Silent_p.G42G|SEC16A_uc004chr.3_Silent_p.G207G|SEC16A_uc004chs.3_Silent_p.G41G|SEC16A_uc004cht.3_Silent_p.G232G|SEC16A_uc004chu.3_Silent_p.G386G|SEC16A_uc004chv.4_Silent_p.G1591G|SEC16A_uc004chw.3_Silent_p.G2201G|SEC16A_uc010nbn.3_Silent_p.G2201G	NM_014866	NP_055681	O15027	SC16A_HUMAN	Homo sapiens SEC16 homolog A (S. cerevisiae) (SEC16A), mRNA.	2023					protein transport|vesicle-mediated transport	Golgi membrane|endoplasmic reticulum membrane				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		TCCGCTGGGTCCCGCTTGGGT	0.612000														7			9		0	0	1	0	0
CCDC66	285331	broad.mit.edu	37	3	56601046	56601046	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:56601046T>C	uc003dhz.3	+	5	866	c.779T>C	c.(778-780)tTg>tCg	p.L260S	CCDC66_uc003dhy.3_5'UTR|CCDC66_uc003dhu.3_Missense_Mutation_p.L226S|CCDC66_uc003dhx.3_Non-coding_Transcript|CCDC66_uc003dhv.2_Non-coding_Transcript|CCDC66_uc003dhw.2_Missense_Mutation_p.L260S	NM_001141947	NP_001135419	A2RUB6	CCD66_HUMAN	Homo sapiens coiled-coil domain containing 66 (CCDC66), transcript variant 1, mRNA.	260										breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)		AGAAGTTCGTTGGAAGCAAAA	0.373000														98			17		0	0	1	0	0
VPS13B	157680	broad.mit.edu	37	8	100493863	100493863	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:100493863A>G	uc003yiv.3	+	24	3814	c.3703A>G	c.(3703-3705)Aag>Gag	p.K1235E	VPS13B_uc003yiw.3_Missense_Mutation_p.K1235E|VPS13B_uc003yiu.1_Missense_Mutation_p.K1235E|VPS13B_uc003yix.1_Missense_Mutation_p.K705E	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA.	1235					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TATCATGAATAAGGTCTGGAA	0.413000														173			25		0	0	1	0	0
MEIS2	4212	broad.mit.edu	37	15	37329158	37329158	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:37329158C>T	uc001zjr.3	-	7	1831	c.757G>A	c.(757-759)Gat>Aat	p.D253N	MEIS2_uc001zjl.3_Missense_Mutation_p.D240N|MEIS2_uc010ucj.2_Missense_Mutation_p.D240N|MEIS2_uc001zjm.3_Missense_Mutation_p.D165N|MEIS2_uc001zjn.3_Missense_Mutation_p.D107N|MEIS2_uc001zjo.3_Missense_Mutation_p.D253N|MEIS2_uc001zjp.3_Missense_Mutation_p.D253N|MEIS2_uc001zjs.3_Missense_Mutation_p.D253N|MEIS2_uc001zju.3_Missense_Mutation_p.D240N|MEIS2_uc001zjt.3_Missense_Mutation_p.D253N	NM_170675	NP_733775	O14770	MEIS2_HUMAN	Homo sapiens Meis homeobox 2 (MEIS2), transcript variant c, mRNA.	253	Asp/Glu-rich (acidic).				negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	36		all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155)		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)		TCTAAACCATCCCCTAGTAGA	0.408000														55			29		0	0	1	0	0
KDM1A	23028	broad.mit.edu	37	1	23385652	23385652	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:23385652G>A	uc001bgi.2	+	7	1248	c.1099G>A	c.(1099-1101)Gga>Aga	p.G367R	KDM1A_uc001bgj.2_Missense_Mutation_p.G387R	NM_015013	NP_055828	O60341	KDM1A_HUMAN	Homo sapiens lysine (K)-specific demethylase 1A (KDM1A), transcript variant 2, mRNA.	367	Demethylase activity.				blood coagulation|muscle cell development|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of apoptosis|negative regulation of protein binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin	MyoD binding|androgen receptor binding|chromatin binding|enzyme binding|flavin adenine dinucleotide binding|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H3-dimethyl-K4 specific)|ligand-dependent nuclear receptor transcription coactivator activity|oxidoreductase activity|p53 binding|transcription regulatory region DNA binding			breast(2)|central_nervous_system(2)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						TGAAGCCAACGGACAAGCTGT	0.383000														35			6		0	0	1	0	0
SERPINF2	5345	broad.mit.edu	37	17	1657778	1657778	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:1657778C>A	uc002ftk.1	+	9	1503	c.1426C>A	c.(1426-1428)Ctt>Att	p.L476I	SERPINF2_uc010vqr.1_Missense_Mutation_p.L412I|SERPINF2_uc021tnm.1_Missense_Mutation_p.L476I	NM_000934	NP_001159392	P08697	A2AP_HUMAN	Homo sapiens serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2 (SERPINF2), transcript variant 1, mRNA.	476					acute-phase response|fibrinolysis|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity			breast(2)|endometrium(1)|kidney(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	Streptokinase(DB00086)	TGACTTAAAACTTGTGCCCCC	0.612000														54			27		3.69857e-22	4.80082e-22	1	1	0
ABCG5	64240	broad.mit.edu	37	2	44053537	44053537	+	Missense_Mutation	SNP	C	T	T	rs148186696		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:44053537C>T	uc002rtn.3	-	5	898	c.758G>A	c.(757-759)cGt>cAt	p.R253H	ABCG5_uc002rtm.3_Intron|ABCG5_uc002rto.3_Intron|ABCG5_uc002rtp.3_Intron	NM_022436	NP_071881	Q9H222	ABCG5_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 5 (ABCG5), mRNA.	253	ABC transporter.				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				AAGCTCAGAACGGGGCTGGTG	0.537000														32			21		0	0	1	0	0
TMEM81	388730	broad.mit.edu	37	1	205053118	205053118	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:205053118C>T	uc001hbt.3	-	0	471	c.331G>A	c.(331-333)Gag>Aag	p.E111K		NM_203376	NP_976310	Q6P7N7	TMM81_HUMAN	Homo sapiens transmembrane protein 81 (TMEM81), mRNA.	111	Ig-like.					integral to membrane				endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	9	all_cancers(21;0.144)|Breast(84;0.0437)		BRCA - Breast invasive adenocarcinoma(75;0.0923)			TGTCCAAACTCCAAGATGTCT	0.488000														26			34		0	0	1	0	0
NEIL3	55247	broad.mit.edu	37	4	178274725	178274725	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:178274725A>G	uc003iut.2	+	7	1420	c.1303A>G	c.(1303-1305)Aag>Gag	p.K435E	NEIL3_uc010irs.3_3'UTR	NM_018248	NP_060718	Q8TAT5	NEIL3_HUMAN	Homo sapiens nei endonuclease VIII-like 3 (E. coli) (NEIL3), mRNA.	435					base-excision repair|nucleotide-excision repair	nucleus	DNA N-glycosylase activity|DNA-(apurinic or apyrimidinic site) lyase activity|bubble DNA binding|damaged DNA binding|double-stranded DNA binding|single-stranded DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164)		all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191)		CCCCTCCAAGAAGACAACAAA	0.358000								Base excision repair (BER), DNA glycosylases						62			6		0	0	1	0	0
NR1D1	9572	broad.mit.edu	37	17	38251886	38251886	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:38251886C>A	uc002htz.2	-	4	1685	c.1059G>T	c.(1057-1059)gaG>gaT	p.E353D	NR1D1_uc010cwq.2_Non-coding_Transcript|NR1D1_uc010cwr.1_Intron	NM_021724	NP_068370	P20393	NR1D1_HUMAN	Homo sapiens nuclear receptor subfamily 1, group D, member 1 (NR1D1), mRNA.	353					cellular response to lipopolysaccharide|negative regulation of receptor biosynthetic process|negative regulation of toll-like receptor 4 signaling pathway|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin|nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(1)|large_intestine(5)|lung(2)|skin(1)|upper_aerodigestive_tract(2)	11	Colorectal(19;0.000442)					CATTTAGGGCCTCGTTATGAC	0.642000														45			24		5.35356e-11	6.51008e-11	1	1	0
CELSR2	1952	broad.mit.edu	37	1	109794125	109794125	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:109794125G>A	uc001dxa.4	+	0	1485	c.1424G>A	c.(1423-1425)cGa>cAa	p.R475Q		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 2 (flamingo homolog, Drosophila) (CELSR2), mRNA.	475	Cadherin 3.				Wnt receptor signaling pathway|dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent	cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CTACGGGTGCGAGCACAGGAT	0.557000														279			28		0	0	1	0	0
CLU	1191	broad.mit.edu	37	8	27456013	27456013	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:27456013G>A	uc003xfy.2	-	7	1484	c.1337C>T	c.(1336-1338)gCg>gTg	p.A446V	CLU_uc003xfw.2_Missense_Mutation_p.A435V|CLU_uc003xfx.2_Missense_Mutation_p.A435V|CLU_uc003xfz.2_Missense_Mutation_p.A435V	NM_001831	NP_001822	P10909	CLUS_HUMAN	Homo sapiens clusterin (CLU), transcript variant 1, mRNA.	435					chaperone-mediated protein folding|complement activation, classical pathway|innate immune response|lipid metabolic process|negative regulation of apoptosis|negative regulation of protein homooligomerization|platelet activation|platelet degranulation|positive regulation of NF-kappaB transcription factor activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|response to misfolded protein|response to virus|reverse cholesterol transport	chromaffin granule|cytosol|endoplasmic reticulum|microsome|mitochondrial membrane|nucleus|perinuclear region of cytoplasm|platelet alpha granule lumen|spherical high-density lipoprotein particle	misfolded protein binding|ubiquitin protein ligase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)	21		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132)		CGCTTTCTCCGCCACGGTCTC	0.557000														68			38		0	0	1	0	0
SHANK2	22941	broad.mit.edu	37	11	70319333	70319333	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:70319333C>T	uc001oqc.3	-	21	5105	c.4993G>A	c.(4993-4995)Gcc>Acc	p.A1665T	SHANK2_uc010rqn.2_Missense_Mutation_p.A1141T|SHANK2_uc001opz.3_Missense_Mutation_p.A1136T|BC127192_uc009ysn.1_Splice_Site_p.E77_splice|SHANK2_uc001opy.3_Missense_Mutation_p.A67T|SHANK2_uc021qmr.1_Non-coding_Transcript	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 2 (SHANK2), transcript variant 1, mRNA.	1352					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|SH3 domain binding|ionotropic glutamate receptor binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			GAAGGAGAGGCGGTGGCAGCA	0.602000														56			35		0	0	1	0	0
SBSN	374897	broad.mit.edu	37	19	36017820	36017820	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:36017820G>A	uc002oad.2	-	0	1434	c.1364C>T	c.(1363-1365)gCa>gTa	p.A455V	SBSN_uc002oae.2_Intron|SBSN_uc021usp.1_Intron	NM_001166034	NP_001159506	Q6UWP8	SBSN_HUMAN	Homo sapiens suprabasin (SBSN), transcript variant 1, mRNA.	112						extracellular region				large_intestine(5)|lung(6)|ovary(1)|prostate(2)	14	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			AAACTGCCCTGCCTCCTTCCC	0.607000														8			3		0	0	1	0	0
ZER1	10444	broad.mit.edu	37	9	131502228	131502228	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:131502228C>T	uc004bwa.1	-	12	2457	c.2024G>A	c.(2023-2025)cGg>cAg	p.R675Q		NM_006336	NP_006327	Q7Z7L7	ZER1_HUMAN	Homo sapiens zer-1 homolog (C. elegans) (ZER1), mRNA.	675					ATP hydrolysis coupled proton transport|regulation of ubiquitin-protein ligase activity	Cul2-RING ubiquitin ligase complex|vacuolar proton-transporting V-type ATPase, V1 domain	protein binding|proton-transporting ATPase activity, rotational mechanism|ubiquitin-protein ligase activity	p.R675Q(2)		endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	15						GATGTTTCTCCGAGAGTTTAT	0.582000														32			21		0	0	1	0	0
FAM3B	54097	broad.mit.edu	37	21	42729091	42729091	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:42729091G>A	uc002yzb.1	+	7	821	c.675G>A	c.(673-675)caG>caA	p.Q225Q	FAM3B_uc002yza.2_Non-coding_Transcript|FAM3B_uc002yzc.1_Silent_p.Q177Q	NM_058186	NP_478066	P58499	FAM3B_HUMAN	Homo sapiens family with sequence similarity 3, member B (FAM3B), transcript variant 1, mRNA.	225					apoptosis|insulin secretion	extracellular space	cytokine activity			central_nervous_system(2)|endometrium(1)|lung(2)	5		Prostate(19;1.57e-07)|all_epithelial(19;0.0404)				CAGAGATCCAGATAGAAGGCT	0.398000														85			42		0	0	1	0	0
HHLA2	11148	broad.mit.edu	37	3	108074138	108074138	+	Missense_Mutation	SNP	C	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:108074138C>G	uc003dwz.3	+	4	1009	c.595C>G	c.(595-597)Ctg>Gtg	p.L199V	HHLA2_uc011bhl.2_Missense_Mutation_p.L135V|HHLA2_uc010hpu.3_Missense_Mutation_p.L199V|HHLA2_uc003dwy.4_Missense_Mutation_p.L199V	NM_007072	NP_009003	Q9UM44	HHLA2_HUMAN	Homo sapiens HERV-H LTR-associating 2 (HHLA2), mRNA.	199	Ig-like C1-type.					integral to membrane				endometrium(2)|large_intestine(1)|lung(14)|ovary(1)	18						TAACAGCCCACTGAATATTAC	0.403000														31			19		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140788107	140788107	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140788107C>A	uc003lkj.2	+	0	338	c.338C>A	c.(337-339)cCt>cAt	p.P113H	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lki.1_Missense_Mutation_p.P113H	NM_018926	NP_061749	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 6 (PCDHGB6), transcript variant 1, mRNA.	113	Cadherin 1.				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)			GTGGAAAATCCTTTAAATATT	0.383000														89			12		0.0202918	0.0208584	1	1	0
MTMR11	10903	broad.mit.edu	37	1	149905806	149905806	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:149905806C>T	uc001etl.4	-	7	964	c.713G>A	c.(712-714)cGa>cAa	p.R238Q	MTMR11_uc001etm.2_Missense_Mutation_p.R166Q|MTMR11_uc010pbm.1_Missense_Mutation_p.R210Q|MTMR11_uc010pbn.1_Missense_Mutation_p.R80Q	NM_001145862	NP_001139334	A4FU01	MTMRB_HUMAN	Homo sapiens myotubularin related protein 11 (MTMR11), transcript variant 1, mRNA.	238	Myotubularin phosphatase.						phosphatase activity	p.R238Q(2)|p.R166Q(2)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34	Breast(34;0.0009)|Ovarian(49;0.0377)|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)			GTCCAGAATTCGGTTAGGGAC	0.483000														95			44		0	0	1	0	0
MT2A	4502	broad.mit.edu	37	16	56642952	56642952	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:56642952G>A	uc002ejh.3	+	1	167	c.77G>A	c.(76-78)tGc>tAc	p.C26Y	MT1A_uc002eji.3_Non-coding_Transcript	NM_005953	NP_005944	P02795	MT2_HUMAN	Homo sapiens metallothionein 2A (MT2A), mRNA.	26	Beta.				cellular copper ion homeostasis|interferon-gamma-mediated signaling pathway		metal ion binding|protein binding			breast(1)|endometrium(1)|lung(1)	3						GAGTGCAAATGCACCTCCTGC	0.542000														30			22		0	0	1	0	0
CEP192	55125	broad.mit.edu	37	18	13103524	13103524	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:13103524C>T	uc010xac.2	+	38	6968	c.6888C>T	c.(6886-6888)ctC>ctT	p.L2296L	CEP192_uc010dlf.1_Non-coding_Transcript|CEP192_uc010xad.2_Silent_p.L1821L|CEP192_uc002kru.3_Non-coding_Transcript|CEP192_uc002krv.3_Silent_p.L718L|CEP192_uc002krx.3_Silent_p.L300L|CEP192_uc002kry.3_Non-coding_Transcript	NM_032142	NP_115518	B7ZMF0	B7ZMF0_HUMAN	Homo sapiens centrosomal protein 192kDa (CEP192), mRNA.	1891										NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GTCTAGAACTCGAGAATCATG	0.433000														77			8		0	0	1	0	0
CHEK2P2	646096	broad.mit.edu	37	15	20489489	20489489	+	RNA	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:20489489G>A	uc001ytf.1	+	2		c.477G>A								Homo sapiens checkpoint kinase 2 pseudogene 2 (CHEK2P2), non-coding RNA.																		AGAAGTCTCAGAGAAAGGTAT	0.428000														30			16		0	0	1	0	0
NOBOX	135935	broad.mit.edu	37	7	144097329	144097329	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:144097329C>A	uc022aoj.1	-	4	921	c.921G>T	c.(919-921)caG>caT	p.Q307H		NM_001080413	NP_001073882	O60393	NOBOX_HUMAN	Homo sapiens NOBOX oogenesis homeobox (NOBOX), mRNA.	307					cell differentiation|oogenesis	nucleus	sequence-specific DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					CCCCCACCGTCTGGGCAATCT	0.552000														63			9		1.58986e-06	1.80238e-06	1	1	0
LRRK2	120892	broad.mit.edu	37	12	40722196	40722196	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:40722196C>A	uc001rmg.4	+	38	5812	c.5691C>A	c.(5689-5691)gcC>gcA	p.A1897A	LRRK2_uc009zjw.3_Silent_p.A735A|LRRK2_uc001rmi.3_Silent_p.A730A	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	Homo sapiens leucine-rich repeat kinase 2 (LRRK2), mRNA.	1897	Protein kinase.				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				ACCGAGCAGCCTATGAAGGAG	0.303000														24			16		4.96729e-08	5.78267e-08	1	1	0
ALDH3A1	218	broad.mit.edu	37	17	19645413	19645413	+	Missense_Mutation	SNP	G	A	A	rs139173953	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:19645413G>A	uc002gwk.3	-	2	1207	c.944C>T	c.(943-945)aCg>aTg	p.T315M	ALDH3A1_uc010cqu.3_Missense_Mutation_p.T198M|ALDH3A1_uc010vzd.2_Missense_Mutation_p.T198M|ALDH3A1_uc002gwj.3_Missense_Mutation_p.T198M|ALDH3A1_uc010cqv.3_Missense_Mutation_p.T198M|ALDH3A1_uc002gwl.1_Missense_Mutation_p.T125M			P30838	AL3A1_HUMAN	Homo sapiens aldehyde dehydrogenase 3 family, member A1 (ALDH3A1), transcript variant 2, mRNA.	198					cellular aldehyde metabolic process	cytosol|endoplasmic reticulum	alcohol dehydrogenase (NADP+) activity|aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)			Colorectal(15;0.0829)	NADH(DB00157)	GGCAGCAGCCGTCATGATGAT	0.607000														27			13		0	0	1	0	0
SUOX	6821	broad.mit.edu	37	12	56398397	56398397	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56398397C>A	uc001six.3	+	5	1550	c.1224C>A	c.(1222-1224)gaC>gaA	p.D408E	SUOX_uc001siy.3_Missense_Mutation_p.D408E|SUOX_uc001siz.3_Missense_Mutation_p.D408E|SUOX_uc001sja.3_Missense_Mutation_p.D408E	NM_000456	NP_001027559	P51687	SUOX_HUMAN	Homo sapiens sulfite oxidase (SUOX), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	408	Molybdenum-pterin domain (By similarity).					mitochondrial intermembrane space	electron carrier activity|molybdenum ion binding|sulfite oxidase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)	15			UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.119)			CATCTGTGGACTGGGAGACTG	0.552000														47			6		0.0293803	0.0299714	1	1	0
ACTR10	55860	broad.mit.edu	37	14	58698849	58698849	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:58698849G>A	uc001xdf.3	+	11	1039	c.936G>A	c.(934-936)ttG>ttA	p.L312L	C14orf37_uc010tro.2_Intron|ACTR10_uc021rtr.1_Silent_p.L114L|ACTR10_uc010trp.2_Non-coding_Transcript|ACTR10_uc010apc.3_Silent_p.L102L	NM_018477	NP_060947	Q9NZ32	ARP10_HUMAN	Homo sapiens actin-related protein 10 homolog (S. cerevisiae) (ACTR10), mRNA.	312						cytoplasm				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	13						CTTCTATGTTGCCAGGATTTC	0.358000														160			15		0	0	1	0	0
CRTAM	56253	broad.mit.edu	37	11	122722468	122722468	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:122722468C>T	uc001pyj.3	+	2	261	c.261C>T	c.(259-261)aaC>aaT	p.N87N		NM_019604	NP_062550	O95727	CRTAM_HUMAN	Homo sapiens cytotoxic and regulatory T cell molecule (CRTAM), mRNA.	87	Ig-like V-type.				cell recognition|detection of tumor cell|positive regulation of cytokine secretion|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	integral to membrane|plasma membrane	receptor binding			breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|prostate(1)	19		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		CTGTGCCTAACGTAACCCTGC	0.448000														68			47		0	0	1	0	0
ETFDH	2110	broad.mit.edu	37	4	159624692	159624692	+	Nonsense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:159624692G>T	uc003iqb.3	+	9	1566	c.1234G>T	c.(1234-1236)Gaa>Taa	p.E412*	ETFDH_uc011cjg.2_Nonsense_Mutation_p.E365*|ETFDH_uc010iqr.3_Nonsense_Mutation_p.E9*|ETFDH_uc011cjh.2_Nonsense_Mutation_p.E351*|ETFDH_uc010iqs.3_Nonsense_Mutation_p.E334*	NM_004453	NP_004444	Q16134	ETFD_HUMAN	Homo sapiens electron-transferring-flavoprotein dehydrogenase (ETFDH), nuclear gene encoding mitochondrial protein, mRNA.	412					fatty acid beta-oxidation using acyl-CoA dehydrogenase|respiratory electron transport chain|response to oxidative stress|transport	integral to mitochondrial inner membrane|mitochondrial matrix	4 iron, 4 sulfur cluster binding|electron carrier activity|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding|metal ion binding|oxidoreductase activity, oxidizing metal ions with flavin as acceptor|ubiquinone binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|prostate(1)|skin(3)	28	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0172)		TTTAGCAGCAGAATCTATTTT	0.338000														75			13		1.61879e-10	1.95797e-10	1	1	0
ZFHX4	79776	broad.mit.edu	37	8	77766211	77766211	+	Missense_Mutation	SNP	T	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:77766211T>A	uc003yau.2	+	9	7441	c.7054T>A	c.(7054-7056)Tcc>Acc	p.S2352T	ZFHX4_uc003yaw.1_Missense_Mutation_p.S2307T	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	2307	Pro-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AACAGAAGACTCCATGGATGC	0.473000										HNSCC(33;0.089)				130			13		0	0	1	0	0
LRRC16A	55604	broad.mit.edu	37	6	25280063	25280063	+	Splice_Site	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:25280063G>T	uc011djw.2	+	1	408	c.40_splice	c.e1+1	p.E14_splice	LRRC16A_uc010jpy.3_Splice_Site_p.E14_splice	NM_017640	NP_060110	Q5VZK9	LR16A_HUMAN	Homo sapiens leucine rich repeat containing 16A (LRRC16A), transcript variant 1, mRNA.	14					actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						GGAGTTGATAGGTAAGATTCA	0.552000														102			9		1.08611e-07	1.25606e-07	1	1	0
PCDHAC2	56134	broad.mit.edu	37	5	140347585	140347585	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140347585C>T	uc003lii.3	+	0	1839	c.1234C>T	c.(1234-1236)Ctg>Ttg	p.L412L	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lif.2_Intron|PCDHAC2_uc003lie.1_Intron|PCDHAC2_uc003lih.2_Intron|PCDHAC2_uc011dag.2_Silent_p.L412L	NM_018899	NP_061722	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha subfamily C, 2 (PCDHAC2), transcript variant 1, mRNA.	412	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCTTTCCGACTGAATGGCTT	0.577000														86			7		0	0	1	0	0
ALS2CR11	151254	broad.mit.edu	37	2	202412287	202412287	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:202412287C>A	uc002uyf.3	-	9	1076	c.1024G>T	c.(1024-1026)Gat>Tat	p.D342Y	ALS2CR11_uc002uye.3_Missense_Mutation_p.D342Y|ALS2CR11_uc010fti.3_Missense_Mutation_p.D342Y|ALS2CR11_uc021vvc.1_Missense_Mutation_p.D342Y	NM_001168221	NP_001161693	Q53TS8	AL2SA_HUMAN	Homo sapiens amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11 (ALS2CR11), transcript variant 1, mRNA.	342										NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						TTAGCTTTATCTATCCATGTA	0.269000														15			6		0.000157383	0.000170012	1	1	0
GDF9	2661	broad.mit.edu	37	5	132198025	132198025	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:132198025C>T	uc003kxz.1	-	1	873	c.621G>A	c.(619-621)aaG>aaA	p.K207K	GDF9_uc011cxj.1_Silent_p.K119K	NM_005260	NP_005251	O60383	GDF9_HUMAN	Homo sapiens growth differentiation factor 9 (GDF9), mRNA.	207					female gamete generation|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			NS(1)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	22		all_cancers(142;0.105)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ATTTGTGTTTCTTTCCAAATT	0.398000														87			43		0	0	1	0	0
VWA7	80737	broad.mit.edu	37	6	31743783	31743783	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31743783G>A	uc011dog.2	-	2	709	c.471C>T	c.(469-471)acC>acT	p.T157T	VWA7_uc003nxd.2_Intron|VWA7_uc011doh.1_Non-coding_Transcript	NM_025258	NP_079534	Q9Y334	G7C_HUMAN	Homo sapiens von Willebrand factor A domain containing 7 (VWA7), mRNA.	157						extracellular region											GGCGAGCCAGGGTGTGGTCAA	0.667000														56			43		0	0	1	0	0
CASP4	837	broad.mit.edu	37	11	104819404	104819404	+	Splice_Site	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:104819404C>A	uc001pid.1	-	6	855	c.782_splice	c.e6-1	p.A261_splice	CASP4_uc001pib.1_Splice_Site_p.A205_splice|CASP4_uc009yxg.1_Splice_Site_p.A170_splice	NM_001225	NP_150649	P49662	CASP4_HUMAN	Homo sapiens caspase 4, apoptosis-related cysteine peptidase (CASP4), transcript variant alpha, mRNA.	261					apoptosis|induction of apoptosis|proteolysis	intracellular	cysteine-type endopeptidase activity|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(2)	23		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000854)|Epithelial(105;0.00879)|all cancers(92;0.0357)		CCACGGTTTGCTATGGAGACA	0.473000														32			16		9.16793e-09	1.08001e-08	1	1	0
SBF2	81846	broad.mit.edu	37	11	9875174	9875174	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:9875174G>A	uc001mib.2	-	19	2587	c.2449C>T	c.(2449-2451)Cgg>Tgg	p.R817W	SBF2_uc001mif.3_Missense_Mutation_p.R573W|U80769_uc001mig.3_Intron	NM_030962	NP_112224	Q86WG5	MTMRD_HUMAN	Homo sapiens SET binding factor 2 (SBF2), mRNA.	817					myelination	cytoplasm|membrane	phosphatase activity|protein binding			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		GTAATGAACCGCACAACAGAA	0.423000														107			59		0	0	1	0	0
ZNF148	7707	broad.mit.edu	37	3	124952746	124952746	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:124952746C>T	uc003ehx.4	-	8	1310	c.824G>A	c.(823-825)cGt>cAt	p.R275H	SLC12A8_uc003ehw.4_Intron|ZNF148_uc003ehz.4_Missense_Mutation_p.R275H|ZNF148_uc010hsa.3_Missense_Mutation_p.R275H|ZNF148_uc003eia.4_Missense_Mutation_p.R275H|ZNF148_uc003ehy.3_Intron	NM_021964	NP_068799	Q9UQR1	ZN148_HUMAN	Homo sapiens zinc finger protein 148 (ZNF148), mRNA.	275					cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						ATGGCACATACGTTTATGTTT	0.373000														50			37		0	0	1	0	0
CNOT1	23019	broad.mit.edu	37	16	58559985	58559985	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:58559985C>A	uc002env.3	-	44	6804	c.6511G>T	c.(6511-6513)Gta>Tta	p.V2171L	CNOT1_uc002enw.3_Non-coding_Transcript|CNOT1_uc002enu.4_Missense_Mutation_p.V2166L|CNOT1_uc002ent.3_Missense_Mutation_p.V109L|CNOT1_uc010vik.2_Missense_Mutation_p.V1128L	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 1 (CNOT1), transcript variant 1, mRNA.	2171					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		GGTGGCATTACTCCAGTGAAA	0.413000														62			33		1.36615e-20	1.76476e-20	1	1	0
TRIM8	81603	broad.mit.edu	37	10	104414976	104414976	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:104414976C>T	uc001kvz.2	+	2	929	c.806C>T	c.(805-807)gCg>gTg	p.A269V		NM_030912	NP_112174	Q9BZR9	TRIM8_HUMAN	Homo sapiens tripartite motif containing 8 (TRIM8), mRNA.	269						PML body|cytoplasm	ligase activity|protein homodimerization activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		GCAGCGCAGGCGCTGCACCTC	0.622000														46			32		0	0	1	0	0
NFRKB	4798	broad.mit.edu	37	11	129739838	129739838	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:129739838A>G	uc001qfg.3	-	21	3278	c.3157T>C	c.(3157-3159)Tca>Cca	p.S1053P	NFRKB_uc001qfi.3_Missense_Mutation_p.S1028P|NFRKB_uc001qfh.3_Missense_Mutation_p.S1051P|NFRKB_uc010sbw.1_Missense_Mutation_p.S1038P|NFRKB_uc009zcr.3_Missense_Mutation_p.S314P	NM_006165	NP_006156	Q6P4R8	NFRKB_HUMAN	Homo sapiens nuclear factor related to kappaB binding protein (NFRKB), transcript variant 2, mRNA.	1028					DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		GCACTGGCTGAACTGGCCTTG	0.537000														51			13		0	0	1	0	0
SLC45A3	85414	broad.mit.edu	37	1	205628524	205628524	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:205628524C>T	uc001hda.1	-	4	1839	c.1500G>A	c.(1498-1500)ctG>ctA	p.L500L	SLC45A3_uc010prn.1_Intron|SLC45A3_uc010pro.1_Intron|SLC45A3_uc010prp.1_Intron|SLC45A3_uc010prq.1_Intron	NM_033102	NP_149093	Q96JT2	S45A3_HUMAN	Homo sapiens solute carrier family 45, member 3 (SLC45A3), mRNA.	500					transmembrane transport	integral to membrane			SLC45A3/BRAF(2)|SLC45A3/ELK4(18)|SLC45A3/ETV1(3)|SLC45A3/ETV5_ENST00000306376(2)|SLC45A3/ERG(50)	cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|ovary(3)|prostate(5)	21	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			CCTGGGACAGCAGGAAGGCAC	0.637000			T	"""ETV1, ETV5, ELK4, ERG"""	prostate						OREG0014161	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		16			12		0	0	1	0	0
GSTA1	2938	broad.mit.edu	37	6	52657702	52657702	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:52657702G>A	uc003paz.3	-	5	610	c.498C>T	c.(496-498)taC>taT	p.Y166Y	GSTA1_uc021zan.1_Silent_p.Y166Y	NM_145740	NP_665683	P08263	GSTA1_HUMAN	Homo sapiens glutathione S-transferase alpha 1 (GSTA1), mRNA.	166	GST C-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	12	Lung NSC(77;0.118)				Amsacrine(DB00276)|Busulfan(DB01008)|Glutathione(DB00143)	GCTCCTCGACGTAGTAGAGAA	0.527000														70			44		0	0	1	0	0
LRRC45	201255	broad.mit.edu	37	17	79983272	79983272	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:79983272G>A	uc002kde.3	+	4	790	c.550G>A	c.(550-552)Gtt>Att	p.V184I	STRA13_uc002kdc.3_5'Flank|STRA13_uc002kdd.3_5'Flank	NM_144999	NP_659436	Q96CN5	LRC45_HUMAN	Homo sapiens leucine rich repeat containing 45 (LRRC45), mRNA.	184						centrosome				lung(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	5	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			CTGGAATAACGTTGGCCTCCT	0.627000														49			21		0	0	1	0	0
TADA2B	93624	broad.mit.edu	37	4	7056173	7056173	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:7056173C>T	uc003gjw.4	+	1	806	c.655C>T	c.(655-657)Cgg>Tgg	p.R219W	TADA2B_uc010idi.3_Missense_Mutation_p.R144W|TADA2B_uc021xle.1_Missense_Mutation_p.R127W	NM_152293	NP_689506	Q86TJ2	TAD2B_HUMAN	Homo sapiens transcriptional adaptor 2B (TADA2B), mRNA.	219					regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|zinc ion binding			breast(3)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	18						GAGACAGCGGCGGAAGAACAT	0.572000														53			26		0	0	1	0	0
FBLN7	129804	broad.mit.edu	37	2	112942829	112942829	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:112942829G>A	uc002tho.1	+	6	1131	c.860G>A	c.(859-861)tGc>tAc	p.C287Y	FBLN7_uc010fki.1_Missense_Mutation_p.C241Y|FBLN7_uc010fkj.1_Missense_Mutation_p.C153Y	NM_153214	NP_694946	Q53RD9	FBLN7_HUMAN	Homo sapiens fibulin 7 (FBLN7), transcript variant 1, mRNA.	287	EGF-like 3; calcium-binding (Potential).				cell adhesion	proteinaceous extracellular matrix	calcium ion binding|heparin binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						GGGACCACATGCATCAACACC	0.577000														87			7		0	0	1	0	0
PWP2	5822	broad.mit.edu	37	21	45544500	45544500	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:45544500C>T	uc002zeb.3	+	14	1947	c.1857C>T	c.(1855-1857)agC>agT	p.S619S		NM_005049	NP_005040	Q15269	PWP2_HUMAN	Homo sapiens PWP2 periodic tryptophan protein homolog (yeast) (PWP2), mRNA.	619						cytoplasm|nucleolus	signal transducer activity			cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	21				STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)		ACGGCCACAGCATCCTGGCGG	0.582000														27			17		0	0	1	0	0
BOD1L1	259282	broad.mit.edu	37	4	13605908	13605908	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:13605908C>T	uc003gmz.1	-	9	2733	c.2616G>A	c.(2614-2616)tcG>tcA	p.S872S	BOD1L1_uc010idr.1_Silent_p.S209S	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN	Homo sapiens biorientation of chromosomes in cell division 1-like (BOD1L), mRNA.	872	Lys-rich.						DNA binding										ACTTATCTTCCGAATAACTTT	0.378000														43			27		0	0	1	0	0
SIK3	23387	broad.mit.edu	37	11	116733035	116733035	+	Missense_Mutation	SNP	C	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:116733035C>G	uc001ppy.3	-	15	1830	c.1794G>C	c.(1792-1794)gaG>gaC	p.E598D	SIK3_uc001ppz.3_Missense_Mutation_p.E497D|SIK3_uc001pqa.3_Missense_Mutation_p.E598D|SIK3_uc001ppw.3_Missense_Mutation_p.E15D|SIK3_uc001ppx.3_Missense_Mutation_p.S73T|SIK3_uc001pqb.3_5'Flank	NM_025164	NP_079440	Q9Y2K2	SIK3_HUMAN	Homo sapiens SIK family kinase 3 (SIK3), mRNA.	598	Gln-rich.					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						TCTGCAGCTGCTCACACTCCT	0.507000														78			53		0	0	1	0	0
SMG8	55181	broad.mit.edu	37	17	57288491	57288491	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:57288491C>T	uc002ixi.3	+	0	1121	c.1079C>T	c.(1078-1080)aCt>aTt	p.T360I		NM_018149	NP_060619	Q8ND04	SMG8_HUMAN	Homo sapiens smg-8 homolog, nonsense mediated mRNA decay factor (C. elegans) (SMG8), mRNA.	360					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity		protein binding			NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						AGTCATTGTACTGTGAAGGAC	0.532000														40			17		0	0	1	0	0
PPP6R2	9701	broad.mit.edu	37	22	50857842	50857842	+	Missense_Mutation	SNP	G	A	A	rs137973527		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:50857842G>A	uc003blb.2	+	8	1218	c.796G>A	c.(796-798)Gtc>Atc	p.V266I	PPP6R2_uc003blc.3_Missense_Mutation_p.V266I|PPP6R2_uc003bky.2_Missense_Mutation_p.V266I|PPP6R2_uc003bla.2_Missense_Mutation_p.V267I|PPP6R2_uc003bkz.2_Missense_Mutation_p.V266I	NM_001242898	NP_001229827	O75170	PP6R2_HUMAN	Homo sapiens protein phosphatase 6, regulatory subunit 2 (PPP6R2), transcript variant 1, mRNA.	266						cytoplasm|intracellular membrane-bounded organelle	protein binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	22						GAGCTGCCTCGTCAGTGGGAC	0.562000														18			12		0	0	1	0	0
ZFP106	64397	broad.mit.edu	37	15	42734288	42734288	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:42734288T>C	uc001zpw.3	-	6	4004	c.3677A>G	c.(3676-3678)gAa>gGa	p.E1226G	ZFP106_uc001zpu.3_Missense_Mutation_p.E411G|ZFP106_uc001zpv.3_Missense_Mutation_p.E411G|ZFP106_uc001zpx.3_Missense_Mutation_p.E454G	NM_022473	NP_071918	Q9H2Y7	ZF106_HUMAN	Homo sapiens zinc finger protein 106 homolog (mouse) (ZFP106), mRNA.	1226						nucleolus	zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	61		all_cancers(109;1.63e-12)|all_epithelial(112;3.97e-11)|Lung NSC(122;2.04e-07)|all_lung(180;8.31e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.6e-07)		TTCCAGTAATTCCTTGGACAC	0.438000														140			14		0	0	1	0	0
IL23A	51561	broad.mit.edu	37	12	56733533	56733533	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56733533A>G	uc001sla.3	+	2	486	c.320A>G	c.(319-321)gAt>gGt	p.D107G		NM_016584	NP_057668	Q9NPF7	IL23A_HUMAN	Homo sapiens interleukin 23, alpha subunit p19 (IL23A), mRNA.	107					defense response to Gram-negative bacterium|inflammatory response|innate immune response|negative regulation of interleukin-10 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NK T cell activation|positive regulation of NK T cell proliferation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of activated T cell proliferation|positive regulation of activation of JAK2 kinase activity|positive regulation of defense response to virus by host|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-17 production|positive regulation of memory T cell differentiation|positive regulation of natural killer cell proliferation|positive regulation of osteoclast differentiation|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat4 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|regulation of tyrosine phosphorylation of Stat1 protein|response to virus|tissue remodeling	interleukin-23 complex	cytokine activity			kidney(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	5						CTAGGATCGGATATTTTCACA	0.512000														67			20		0	0	1	0	0
CLIP4	79745	broad.mit.edu	37	2	29383270	29383270	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:29383270G>T	uc002rmv.3	+	11	1710	c.1471G>T	c.(1471-1473)Gtg>Ttg	p.V491L	CLIP4_uc002rmu.3_Missense_Mutation_p.V491L|CLIP4_uc010ezm.1_Missense_Mutation_p.V491L|CLIP4_uc002rmw.3_Non-coding_Transcript	NM_024692	NP_078968	Q8N3C7	CLIP4_HUMAN	Homo sapiens CAP-GLY domain containing linker protein family, member 4 (CLIP4), mRNA.	491										endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1)	26	Acute lymphoblastic leukemia(172;0.155)					CGGAGAGAGAGTGTTAGTGGT	0.468000														82			6		1.06961e-07	1.2399e-07	1	1	0
NXF3	56000	broad.mit.edu	37	X	102338621	102338621	+	Splice_Site	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:102338621C>A	uc004eju.3	-	4	423	c.352_splice	c.e4-1	p.V118_splice	NXF3_uc010noi.1_Splice_Site|NXF3_uc011mrw.1_Splice_Site_p.V118_splice|NXF3_uc011mrx.1_Splice_Site_p.V29_splice	NM_022052	NP_071335	Q9H4D5	NXF3_HUMAN	Homo sapiens nuclear RNA export factor 3 (NXF3), mRNA.	118	RRM.					cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						CAAAGGGAACCTATGAGTGAA	0.388000														97			25		3.28513e-13	4.08142e-13	1	1	0
CNOT8	9337	broad.mit.edu	37	5	154250340	154250340	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:154250340G>A	uc003lvu.3	+	4	910	c.431G>A	c.(430-432)gGa>gAa	p.G144E	CNOT8_uc011ddf.2_Missense_Mutation_p.G38E|CNOT8_uc011ddg.2_Missense_Mutation_p.G38E|CNOT8_uc011ddh.2_Intron|CNOT8_uc003lvv.3_Missense_Mutation_p.G144E|CNOT8_uc010jig.3_Missense_Mutation_p.G38E|CNOT8_uc010jif.3_Missense_Mutation_p.G38E|CNOT8_uc003lvw.3_Missense_Mutation_p.G144E|CNOT8_uc011ddi.2_Missense_Mutation_p.G38E|CNOT8_uc011ddj.2_Intron	NM_004779	NP_004770	Q9UFF9	CNOT8_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 8 (CNOT8), mRNA.	144					negative regulation of cell proliferation|nuclear-transcribed mRNA poly(A) tail shortening	cytosol|nucleus	nucleic acid binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	10	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			ATGACATCAGGAGTGGTTCTC	0.443000														92			55		0	0	1	0	0
GRIK5	2901	broad.mit.edu	37	19	42546742	42546742	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:42546742C>T	uc002osj.1	-	10	1470	c.1435G>A	c.(1435-1437)Ggc>Agc	p.G479S	GRIK5_uc002osi.1_Missense_Mutation_p.G51S|GRIK5_uc010eib.1_Missense_Mutation_p.G398S	NM_002088	NP_002079	Q16478	GRIK5_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 5 (GRIK5), mRNA.	479						cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)			L-Glutamic Acid(DB00142)	GTCCAGGAGCCGTTGGGCTCG	0.692000														26			27		0	0	1	0	0
CDK14	5218	broad.mit.edu	37	7	90613515	90613515	+	Nonsense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:90613515G>T	uc003uky.2	+	9	1222	c.1000G>T	c.(1000-1002)Gga>Tga	p.G334*	CDK14_uc003ukz.1_Nonsense_Mutation_p.G316*|CDK14_uc010les.1_Nonsense_Mutation_p.G288*|CDK14_uc011khl.1_Nonsense_Mutation_p.G205*	NM_012395	NP_036527	O94921	CDK14_HUMAN	Homo sapiens cyclin-dependent kinase 14 (CDK14), mRNA.	334	Protein kinase.				G2/M transition of mitotic cell cycle|Wnt receptor signaling pathway|cell division|regulation of canonical Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	ATP binding|cyclin binding|cyclin-dependent protein kinase activity			breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(12)|ovary(1)|skin(4)	32						TGCTTTTCCAGGAATGAAAGA	0.353000														99			32		2.20262e-25	2.88321e-25	1	1	0
TLL2	7093	broad.mit.edu	37	10	98165092	98165092	+	Splice_Site	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:98165092C>A	uc001kml.2	-	10	1406	c.1165_splice	c.e10-1	p.I389_splice	TLL2_uc009xvf.2_Splice_Site_p.I367_splice	NM_012465	NP_036597	Q9Y6L7	TLL2_HUMAN	Homo sapiens tolloid-like 2 (TLL2), mRNA.	389	CUB 1.				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		TTAATACGATCTGTAAAGAAT	0.433000														71			11		0.000673444	0.000715966	1	1	0
ETNK2	55224	broad.mit.edu	37	1	204115784	204115784	+	Silent	SNP	G	A	A	rs143999368	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:204115784G>A	uc001han.4	-	2	954	c.627C>T	c.(625-627)aaC>aaT	p.N209N	ETNK2_uc010pqr.2_Silent_p.N31N|ETNK2_uc001hao.4_Silent_p.N209N|ETNK2_uc010pqs.2_Intron|ETNK2_uc010pqt.2_Silent_p.N31N			Q9NVF9	EKI2_HUMAN	Homo sapiens ethanolamine kinase 2 (ETNK2), mRNA.	209							ATP binding|choline kinase activity|ethanolamine kinase activity			breast(1)|central_nervous_system(1)|large_intestine(4)|ovary(1)	7	all_cancers(21;0.032)|Breast(84;0.116)|all_epithelial(62;0.196)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			GGTTGATCTCGTTCTTCACAA	0.517000														115			8		0	0	1	0	0
PI4KA	5297	broad.mit.edu	37	22	21104213	21104213	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:21104213C>T	uc002zsz.4	-	27	3310	c.3049G>A	c.(3049-3051)Gtc>Atc	p.V1017I		NM_058004	NP_477352	P42356	PI4KA_HUMAN	Homo sapiens phosphatidylinositol 4-kinase, catalytic, alpha (PI4KA), transcript variant 1, mRNA.	1017					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			GACTTGGTGACGGTAGGTGCC	0.498000														20			11		0	0	1	0	0
VSTM4	196740	broad.mit.edu	37	10	50315727	50315727	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:50315727C>T	uc001jhf.2	-	1	398	c.369G>A	c.(367-369)ggG>ggA	p.G123G	VSTM4_uc001jhh.2_Silent_p.G123G	NM_001031746	NP_001026916	Q8IW00	CJ072_HUMAN	Homo sapiens V-set and transmembrane domain containing 4 (VSTM4), transcript variant 1, mRNA.	123	Ig-like.					integral to membrane|plasma membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2)	31						AGACGTAATGCCCTTGATCGG	0.627000														53			16		0	0	1	0	0
SH3GLB1	51100	broad.mit.edu	37	1	87188228	87188228	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:87188228G>A	uc001dly.3	+	3	679	c.349G>A	c.(349-351)Gcc>Acc	p.A117T	SH3GLB1_uc001dlw.3_Missense_Mutation_p.A117T|SH3GLB1_uc001dlz.3_Missense_Mutation_p.A17T|SH3GLB1_uc001dlx.3_Missense_Mutation_p.A117T	NM_001206651	NP_001193580	Q9Y371	SHLB1_HUMAN	Homo sapiens SH3-domain GRB2-like endophilin B1 (SH3GLB1), transcript variant 2, mRNA.	117	BAR.				anti-apoptosis|filopodium assembly|signal transduction	Golgi membrane|mitochondrial outer membrane	SH3 domain binding|cytoskeletal adaptor activity|protein homodimerization activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|stomach(1)	11		Lung NSC(277;0.209)		all cancers(265;0.0136)|Epithelial(280;0.0414)		TGCAGGTAATGCCCTTATTAA	0.308000														131			35		0	0	1	0	0
TCF19	6941	broad.mit.edu	37	6	31129330	31129330	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31129330G>A	uc003nss.3	+	2	869	c.345G>A	c.(343-345)tcG>tcA	p.S115S	TCF19_uc003nst.3_Silent_p.S115S	NM_001077511	NP_009040	Q9Y242	TCF19_HUMAN	Homo sapiens transcription factor 19 (TCF19), transcript variant 2, mRNA.	115					cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	9						CCAGCCCCTCGGAGTTCTACT	0.562000														77			9		0	0	1	0	0
MRPL1	65008	broad.mit.edu	37	4	78804490	78804490	+	Missense_Mutation	SNP	G	A	A	rs138407676		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:78804490G>A	uc003hku.2	+	2	436	c.238G>A	c.(238-240)Ggc>Agc	p.G80S		NM_020236	NP_064621	Q9BYD6	RM01_HUMAN	Homo sapiens mitochondrial ribosomal protein L1 (MRPL1), nuclear gene encoding mitochondrial protein, mRNA.	80							RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)	17						CTATATGGAAGGCGAACCTGA	0.328000														31			19		0	0	1	0	0
PDCD1LG2	80380	broad.mit.edu	37	9	5534981	5534981	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:5534981G>A	uc011lmc.2	+	2	565	c.292G>A	c.(292-294)Gga>Aga	p.G98R	PLGRKT_uc003zjd.3_Intron|PDCD1LG2_uc003zjg.4_Missense_Mutation_p.G98R|PDCD1LG2_uc011lmd.2_Missense_Mutation_p.G98R|PDCD1LG2_uc010mhp.1_Missense_Mutation_p.G98R|PDCD1LG2_uc010mho.1_Missense_Mutation_p.G98R	NM_025239	NP_079515	Q9BQ51	PD1L2_HUMAN	Homo sapiens programmed cell death 1 ligand 2 (PDCD1LG2), mRNA.	98	Ig-like V-type.				T cell costimulation|immune response	endomembrane system|extracellular region|integral to membrane|plasma membrane	receptor activity			large_intestine(2)|lung(4)|prostate(2)	8	all_hematologic(13;0.158)	Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000767)|Lung(218;0.112)		GAGGGACGAAGGACAGTACCA	0.517000														25			11		0	0	1	0	0
XIAP	331	broad.mit.edu	37	X	123019851	123019851	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:123019851T>C	uc010nqu.3	+	1	465	c.339T>C	c.(337-339)ggT>ggC	p.G113G	XIAP_uc004etx.3_Silent_p.G113G|XIAP_uc010nqv.3_Intron	NM_001204401	NP_001191330	P98170	XIAP_HUMAN	Homo sapiens X-linked inhibitor of apoptosis (XIAP), transcript variant 2, mRNA.	113					anti-apoptosis|apoptosis|induction of apoptosis by intracellular signals|response to DNA damage stimulus	cytosol	caspase inhibitor activity|ligase activity|protein binding|zinc ion binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)	25						TCCAGAATGGTCAGTACAAAG	0.418000									X-linked Lymphoproliferative syndrome					75			52		0	0	1	0	0
KIAA1217	56243	broad.mit.edu	37	10	24822049	24822049	+	Nonsense_Mutation	SNP	T	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:24822049T>A	uc001iru.4	+	15	3700	c.3297T>A	c.(3295-3297)taT>taA	p.Y1099*	KIAA1217_uc001irs.3_Nonsense_Mutation_p.Y1019*|KIAA1217_uc001irt.4_Nonsense_Mutation_p.Y1064*|KIAA1217_uc010qcy.2_Nonsense_Mutation_p.Y1063*|KIAA1217_uc010qcz.2_Nonsense_Mutation_p.Y1064*|KIAA1217_uc001irw.3_Nonsense_Mutation_p.Y782*|KIAA1217_uc001irz.3_Nonsense_Mutation_p.Y782*|KIAA1217_uc001irx.3_Nonsense_Mutation_p.Y782*|KIAA1217_uc001iry.3_Nonsense_Mutation_p.Y782*	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	1099					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						CTACAAAATATCCAGCAGAGG	0.512000														56			9		0	0	1	0	0
GPR179	440435	broad.mit.edu	37	17	36483989	36483989	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:36483989C>A	uc002hpz.3	-	10	5484	c.5463G>T	c.(5461-5463)gaG>gaT	p.E1821D		NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN	Homo sapiens G protein-coupled receptor 179 (GPR179), mRNA.	1821						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				CTTCACTTACCTCCCAGGGAC	0.532000														107			68		3.94839e-29	5.20248e-29	1	1	0
CDS1	1040	broad.mit.edu	37	4	85560115	85560115	+	Silent	SNP	T	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:85560115T>A	uc011ccv.2	+	8	1347	c.849T>A	c.(847-849)ggT>ggA	p.G283G	CDS1_uc010ike.1_Silent_p.G87G	NM_001263	NP_001254	Q92903	CDS1_HUMAN	Homo sapiens CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1 (CDS1), mRNA.	283					signal transduction|visual perception	endoplasmic reticulum membrane|integral to membrane	diacylglycerol cholinephosphotransferase activity|phosphatidate cytidylyltransferase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|ovary(1)	20		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.00101)		TCATTGGTGGTTTCTTTTCCA	0.299000														37			14		0	0	1	0	0
COL12A1	1303	broad.mit.edu	37	6	75844497	75844497	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:75844497T>C	uc021zbv.1	-	30	5504	c.5469A>G	c.(5467-5469)gtA>gtG	p.V1823V	COL12A1_uc021zbw.1_Silent_p.V659V|COL12A1_uc003phs.3_Silent_p.V1823V|COL12A1_uc003pht.3_Silent_p.V659V	NM_004370	NP_004361	Q99715	COCA1_HUMAN	Homo sapiens collagen, type XII, alpha 1 (COL12A1), transcript variant long, mRNA.	1823	Fibronectin type-III 13.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	p.T1822T(1)		breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						ACAGAGAGGATACGGTGATAG	0.463000														53			28		0	0	1	0	0
TAL1	6886	broad.mit.edu	37	1	47689770	47689770	+	Splice_Site	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:47689770G>A	uc001cqx.2	-	3	1024	c.447_splice	c.e3-1	p.S149_splice	TAL1_uc009vyq.2_Splice_Site|TAL1_uc001cqy.2_Splice_Site_p.S149_splice|TAL1_uc001cra.1_Splice_Site|TAL1_uc001cqz.1_Splice_Site	NM_003189	NP_003180	P17542	TAL1_HUMAN	Homo sapiens T-cell acute lymphocytic leukemia 1 (TAL1), mRNA.	149					basophil differentiation|cell fate commitment|cell proliferation|embryonic hemopoiesis|erythrocyte differentiation|megakaryocyte differentiation|positive regulation of cell division|positive regulation of chromatin assembly or disassembly|positive regulation of erythrocyte differentiation|positive regulation of mitotic cell cycle|positive regulation of protein complex assembly|positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	E-box binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity			haematopoietic_and_lymphoid_tissue(1)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	15						CAAAGAACCCGCTGTGGGAGG	0.557000			T	"""TRD@, SIL"""	lymphoblastic leukemia/biphasic									48			30		0	0	1	0	0
ODC1	4953	broad.mit.edu	37	2	10580867	10580867	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:10580867C>T	uc010exg.1	-	11	1803	c.1369G>A	c.(1369-1371)Gct>Act	p.A457T	ODC1_uc002rao.1_Missense_Mutation_p.A457T|ODC1_uc010yjd.1_Missense_Mutation_p.A327T	NM_002539	NP_002530	P11926	DCOR_HUMAN	Homo sapiens ornithine decarboxylase 1 (ODC1), mRNA.	457					polyamine biosynthetic process|regulation of cellular amino acid metabolic process|response to virus	cytosol	ornithine decarboxylase activity|protein binding	p.S456L(1)		NS(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(3)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.161)	Pyridoxal Phosphate(DB00114)|Spermine(DB00127)	TTAATACTAGCCGAAGCACAG	0.493000														48			20		0	0	1	0	0
TTC39A	22996	broad.mit.edu	37	1	51787393	51787393	+	Splice_Site	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:51787393C>A	uc001csl.3	-	2	254	c.149_splice	c.e2+1	p.R50_splice	TTC39A_uc001csk.3_Splice_Site_p.R50_splice|TTC39A_uc010ond.2_Splice_Site_p.R22_splice|TTC39A_uc010one.2_Splice_Site_p.R49_splice|TTC39A_uc010onf.2_Splice_Site_p.R53_splice|TTC39A_uc001csn.3_Splice_Site_p.R49_splice|TTC39A_uc001cso.1_Splice_Site_p.R46_splice|TTC39A_uc009vyy.1_Splice_Site_p.R22_splice	NM_001080494	NP_001073963	Q5SRH9	TT39A_HUMAN	Homo sapiens tetratricopeptide repeat domain 39A (TTC39A), transcript variant 2, mRNA.	50							binding	p.0?(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(2)|prostate(2)|skin(3)|urinary_tract(1)	17						TGAGCCTCACCTGGGCTTGAG	0.582000														19			8		0.00621372	0.00645399	1	1	0
LRRC14B	389257	broad.mit.edu	37	5	195094	195094	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:195094C>T	uc003jal.1	+	1	1199	c.1171C>T	c.(1171-1173)Cgc>Tgc	p.R391C		NM_001080478	NP_001073947	A6NHZ5	LR14B_HUMAN	Homo sapiens leucine rich repeat containing 14B (LRRC14B), mRNA.	391										endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(2)	10						CCACCGGCTGCGCCAGCTCAA	0.672000														8			8		0	0	1	0	0
NFKB2	4791	broad.mit.edu	37	10	104157744	104157744	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:104157744C>T	uc001kvb.3	+	8	933	c.668C>T	c.(667-669)cCg>cTg	p.P223L	NFKB2_uc001kva.3_Missense_Mutation_p.P223L|NFKB2_uc010qqk.1_Missense_Mutation_p.P223L|NFKB2_uc001kvd.3_Missense_Mutation_p.P223L|NFKB2_uc009xxc.3_Missense_Mutation_p.P223L	NM_001077494	NP_001070962	Q00653	NFKB2_HUMAN	Homo sapiens nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100) (NFKB2), transcript variant 1, mRNA.	223	RHD.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|positive regulation of NF-kappaB transcription factor activity|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	Bcl3/NF-kappaB2 complex|cytosol|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|skin(2)	23		Colorectal(252;0.00957)		Epithelial(162;3.4e-08)|all cancers(201;6.41e-07)		ATAGAATCTCCGGGGGCATCA	0.478000			T	IGH@	B-NHL									66			37		0	0	1	0	0
WAPAL	23063	broad.mit.edu	37	10	88259847	88259847	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:88259847T>C	uc001kdn.3	-	3	1291	c.1282A>G	c.(1282-1284)Act>Gct	p.T428A	WAPAL_uc001kdo.3_Missense_Mutation_p.T385A|WAPAL_uc009xsw.3_Missense_Mutation_p.T385A	NM_015045	NP_055860	Q7Z5K2	WAPL_HUMAN	Homo sapiens wings apart-like homolog (Drosophila) (WAPAL), mRNA.	385	Mediates interaction with the cohesin complex.				cell division|interspecies interaction between organisms|mitosis|negative regulation of DNA replication|negative regulation of chromatin binding|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin	chromatin|cohesin complex|cytoplasm	protein binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						GTGGATGCAGTGAACTCATCC	0.418000														33			23		0	0	1	0	0
SRGAP2	23380	broad.mit.edu	37	1	206634618	206634618	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:206634618G>A	uc001hdy.3	+	19	2809	c.2808G>A	c.(2806-2808)cgG>cgA	p.R936R	SRGAP2_uc010pru.2_Silent_p.R935R	NM_015326	NP_056141	O75044	FNBP2_HUMAN	Homo sapiens SLIT-ROBO Rho GTPase activating protein 2 (SRGAP2), transcript variant 1, mRNA.	1023					axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			NS(1)|breast(1)|kidney(1)|lung(1)	4	Breast(84;0.137)					GCGCCTTCCGGCCTGTCAAGT	0.642000														26			28		0	0	1	0	0
NOL6	65083	broad.mit.edu	37	9	33467152	33467152	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:33467152G>A	uc003zsz.3	-	13	1935	c.1834C>T	c.(1834-1836)Cgc>Tgc	p.R612C	NOL6_uc003zsy.3_5'Flank|NOL6_uc003zta.3_Missense_Mutation_p.R612C|NOL6_uc010mjv.3_Missense_Mutation_p.R609C|NOL6_uc011lob.2_Missense_Mutation_p.R560C|NOL6_uc003ztb.1_Missense_Mutation_p.R612C	NM_022917	NP_075068	Q9H6R4	NOL6_HUMAN	Homo sapiens nucleolar protein family 6 (RNA-associated) (NOL6), transcript variant alpha, mRNA.	612					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)		GGAATAAGGCGCTTCTGGGAC	0.607000											OREG0019137	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		24			16		0	0	1	0	0
CAMK1G	57172	broad.mit.edu	37	1	209778919	209778919	+	Missense_Mutation	SNP	G	A	A	rs144255822		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:209778919G>A	uc001hhd.3	+	4	437	c.335G>A	c.(334-336)cGg>cAg	p.R112Q	CAMK1G_uc001hhf.4_Missense_Mutation_p.R112Q|CAMK1G_uc001hhe.3_Missense_Mutation_p.R112Q	NM_020439	NP_065172	Q96NX5	KCC1G_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase IG (CAMK1G), mRNA.	112	Protein kinase.					Golgi membrane|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|central_nervous_system(1)|large_intestine(8)|lung(8)|stomach(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.0475)		ATCCTGGAGCGGGGTGTCTAC	0.493000														109			8		0	0	1	0	0
RASGRF1	5923	broad.mit.edu	37	15	79382709	79382709	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:79382709G>A	uc002beq.3	-	0	507	c.132C>T	c.(130-132)ttC>ttT	p.F44F	RASGRF1_uc002bep.3_Silent_p.F44F|RASGRF1_uc002ber.4_Silent_p.F44F	NM_002891	NP_002882	Q13972	RGRF1_HUMAN	Homo sapiens Ras protein-specific guanine nucleotide-releasing factor 1 (RASGRF1), transcript variant 1, mRNA.	44	PH 1.				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GCAGCAGCGCGAACCACTTGG	0.642000														58			37		0	0	1	0	0
ARID2	196528	broad.mit.edu	37	12	46246368	46246368	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:46246368G>A	uc001ros.1	+	14	4462	c.4462G>A	c.(4462-4464)Gac>Aac	p.D1488N	ARID2_uc001ror.3_Missense_Mutation_p.D1488N|ARID2_uc009zkg.1_Missense_Mutation_p.D944N|ARID2_uc009zkh.1_Missense_Mutation_p.D1115N|ARID2_uc001rou.1_Missense_Mutation_p.D822N	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	Homo sapiens AT rich interactive domain 2 (ARID, RFX-like) (ARID2), mRNA.	1488					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		AGCAGTTCCCGACTCAGGATC	0.458000			"""N, S, F"""		hepatocellular carcinoma									58			31		0	0	1	0	0
TAL1	6886	broad.mit.edu	37	1	47691486	47691486	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:47691486G>A	uc001cqx.2	-	1	652	c.75C>T	c.(73-75)agC>agT	p.S25S	TAL1_uc009vyq.2_5'Flank|TAL1_uc001cqy.2_Silent_p.S25S|TAL1_uc001cra.1_Intron|TAL1_uc001cqz.1_Intron	NM_003189	NP_003180	P17542	TAL1_HUMAN	Homo sapiens T-cell acute lymphocytic leukemia 1 (TAL1), mRNA.	25					basophil differentiation|cell fate commitment|cell proliferation|embryonic hemopoiesis|erythrocyte differentiation|megakaryocyte differentiation|positive regulation of cell division|positive regulation of chromatin assembly or disassembly|positive regulation of erythrocyte differentiation|positive regulation of mitotic cell cycle|positive regulation of protein complex assembly|positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	E-box binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity			haematopoietic_and_lymphoid_tissue(1)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	15						GGGGGGCCATGCTGGCCTCGG	0.736000			T	"""TRD@, SIL"""	lymphoblastic leukemia/biphasic									13			7		0	0	1	0	0
ZSWIM4	65249	broad.mit.edu	37	19	13915803	13915803	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:13915803C>T	uc002mxh.1	+	2	742	c.553C>T	c.(553-555)Cgg>Tgg	p.R185W	ZSWIM4_uc010xng.1_5'UTR	NM_023072	NP_075560	Q9H7M6	ZSWM4_HUMAN	Homo sapiens zinc finger, SWIM-type containing 4 (ZSWIM4), mRNA.	185							zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			GGTGGAGCTGCGGCTGCCCAT	0.642000											OREG0025298	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		37			8		0	0	1	0	0
ZRANB1	54764	broad.mit.edu	37	10	126631286	126631286	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:126631286G>T	uc010qug.2	+	1	406	c.302G>T	c.(301-303)aGg>aTg	p.R101M	ZRANB1_uc001lic.3_Missense_Mutation_p.R75M	NM_017580	NP_060050	Q9UGI0	ZRAN1_HUMAN	Homo sapiens zinc finger, RAN-binding domain containing 1 (ZRANB1), mRNA.	75					Wnt receptor signaling pathway|positive regulation of Wnt receptor signaling pathway|protein K63-linked deubiquitination	aggresome|centrosome|intermediate filament cytoskeleton|nucleolus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	23		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.172)		Colorectal(40;0.113)|COAD - Colon adenocarcinoma(40;0.119)		GCAAGACCAAGGGTGAAATCT	0.428000														55			36		3.03874e-20	3.92096e-20	1	1	0
HMGCS2	3158	broad.mit.edu	37	1	120301770	120301770	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:120301770C>T	uc001eid.3	-	3	909	c.821G>A	c.(820-822)cGt>cAt	p.R274H	HMGCS2_uc010oxj.2_Missense_Mutation_p.R232H|HMGCS2_uc021osw.1_Missense_Mutation_p.R40H|HMGCS2_uc021osx.1_Intron	NM_005518	NP_005509	P54868	HMCS2_HUMAN	Homo sapiens 3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial) (HMGCS2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	274					acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA synthase activity	p.R274H(2)		NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)		GATTTTTTTACGGTATGATGT	0.468000														46			31		0	0	1	0	0
C12orf60	144608	broad.mit.edu	37	12	14976519	14976519	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:14976519C>T	uc001rcj.4	+	1	854	c.650C>T	c.(649-651)gCt>gTt	p.A217V	C12orf60_uc021qvq.1_Missense_Mutation_p.A217V	NM_175874	NP_787070	Q5U649	CL060_HUMAN	Homo sapiens chromosome 12 open reading frame 60 (C12orf60), mRNA.	217										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	9						ATTGTCAAGGCTATGGGACCA	0.383000														43			5		0	0	1	0	0
CEP135	9662	broad.mit.edu	37	4	56877583	56877583	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:56877583C>A	uc003hbi.3	+	19	2745	c.2511C>A	c.(2509-2511)atC>atA	p.I837I	CEP135_uc003hbj.3_Silent_p.I543I	NM_025009	NP_079285	Q66GS9	CP135_HUMAN	Homo sapiens centrosomal protein 135kDa (CEP135), mRNA.	837					G2/M transition of mitotic cell cycle|centriole replication|centriole-centriole cohesion	centriole|cytosol	protein C-terminus binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					TGTAGGAAATCTCATTGGAAT	0.323000														21			17		3.51602e-12	4.32762e-12	1	1	0
ZFAT	57623	broad.mit.edu	37	8	135524755	135524755	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:135524755C>T	uc003yup.3	-	13	3510	c.3324G>A	c.(3322-3324)gtG>gtA	p.V1108V	ZFAT_uc011ljj.2_Silent_p.V227V|ZFAT_uc003yun.3_Silent_p.V1096V|ZFAT_uc003yuo.3_Silent_p.V1096V|ZFAT_uc010meh.3_Intron|ZFAT_uc010mej.3_Silent_p.V1046V|ZFAT_uc010mei.3_Non-coding_Transcript|ZFAT_uc003yuq.3_Silent_p.V1096V	NM_020863	NP_001161055	Q9P243	ZFAT_HUMAN	Homo sapiens zinc finger and AT hook domain containing (ZFAT), transcript variant 1, mRNA.	1108					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			GGAGCGCGGCCACCGCTGCCT	0.527000														98			55		0	0	1	0	0
EIF3I	8668	broad.mit.edu	37	1	32688215	32688215	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:32688215C>T	uc001bur.4	+	2	613	c.80C>T	c.(79-81)aCt>aTt	p.T27I	TMEM234_uc001buo.3_5'Flank|TMEM234_uc001bup.3_5'Flank|TMEM234_uc009vub.1_5'Flank|TMEM234_uc010oha.2_5'Flank|TMEM234_uc001buq.4_5'Flank|EIF3I_uc009vuc.3_Missense_Mutation_p.T27I	NM_003757	NP_003748	Q13347	EIF3I_HUMAN	Homo sapiens eukaryotic translation initiation factor 3, subunit I (EIF3I), mRNA.	27						cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)				CTCCTCTTTACTGTGGCCAAG	0.587000														33			22		0	0	1	0	0
RAB14	51552	broad.mit.edu	37	9	123952957	123952957	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:123952957G>A	uc004blc.3	-	3	615	c.159C>T	c.(157-159)atC>atT	p.I53I		NM_016322	NP_057406	P61106	RAB14_HUMAN	Homo sapiens RAB14, member RAS oncogene family (RAB14), mRNA.	53					Golgi to endosome transport|embryo development|fibroblast growth factor receptor signaling pathway|neurotransmitter secretion|protein transport|small GTPase mediated signal transduction	Golgi membrane|Golgi stack|cytosol|early endosome membrane|late endosome|lysosome|membrane fraction|nuclear outer membrane-endoplasmic reticulum membrane network|perinuclear region of cytoplasm|rough endoplasmic reticulum|trans-Golgi network transport vesicle	GDP binding|GTP binding|GTPase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5						CACTAACTTCGATTATTCTTG	0.418000														32			17		0	0	1	0	0
NCKAP5L	57701	broad.mit.edu	37	12	50189040	50189040	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:50189040G>A	uc009zlk.2	-	7	2805	c.2603C>T	c.(2602-2604)aCt>aTt	p.T868I	NCKAP5L_uc001rvc.3_Missense_Mutation_p.T72I|NCKAP5L_uc001rvb.2_Missense_Mutation_p.T461I	NM_001037806	NP_001032895	Q9HCH0	NCK5L_HUMAN	Homo sapiens NCK-associated protein 5-like (NCKAP5L), mRNA.	864	Pro-rich.									central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						ACTTGGGTCAGTGGGGCCAGG	0.642000														112			20		0	0	1	0	0
EML3	256364	broad.mit.edu	37	11	62374475	62374475	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:62374475G>A	uc010rly.1	-	11	1767	c.1459C>T	c.(1459-1461)Cgg>Tgg	p.R487W	EML3_uc001ntr.1_Missense_Mutation_p.R459W|EML3_uc001nts.1_Missense_Mutation_p.R459W|EML3_uc001ntt.1_Missense_Mutation_p.R371W|EML3_uc001ntu.1_Missense_Mutation_p.R487W|EML3_uc009yny.1_Missense_Mutation_p.R270W			Q32P44	EMAL3_HUMAN	Homo sapiens echinoderm microtubule associated protein like 3 (EML3), mRNA.	487						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						GAAGGGCTCCGCCCCCAGGTG	0.542000														34			22		0	0	1	0	0
KRT75	9119	broad.mit.edu	37	12	52824343	52824343	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:52824343C>T	uc001saj.2	-	4	1039	c.1017G>A	c.(1015-1017)gaG>gaA	p.E339E		NM_004693	NP_004684	O95678	K2C75_HUMAN	Homo sapiens keratin 75 (KRT75), mRNA.	339	Coil 2.|Rod.					keratin filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		GGTACCAGGACTCAGCCTCGG	0.542000														67			30		0	0	1	0	0
MSH6	2956	broad.mit.edu	37	2	48030802	48030802	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:48030802G>A	uc002rwd.4	+	4	3568	c.3416G>A	c.(3415-3417)gGc>gAc	p.G1139D	MSH6_uc010fbj.3_Missense_Mutation_p.G837D|MSH6_uc010yoj.2_Missense_Mutation_p.G837D	NM_000179	NP_000170	P52701	MSH6_HUMAN	Homo sapiens mutS homolog 6 (E. coli) (MSH6), mRNA.	1139					DNA damage response, signal transduction resulting in induction of apoptosis|determination of adult lifespan|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding	p.0?(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			AATATGGGGGGCAAGTCTACG	0.378000			"""Mis, N, F, S"""		colorectal	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome					65			48		0	0	1	0	0
TRRAP	8295	broad.mit.edu	37	7	98506447	98506447	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:98506447G>A	uc003upp.3	+	13	1421	c.1212G>A	c.(1210-1212)aaG>aaA	p.K404K	TRRAP_uc011kis.2_Silent_p.K404K|TRRAP_uc003upr.3_Silent_p.K96K	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.	404					histone H2A acetylation|histone H4 acetylation|histone deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TCTTCGCCAAGAACATCGACG	0.642000														14			3		0	0	1	0	0
UPK3A	7380	broad.mit.edu	37	22	45689190	45689190	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:45689190C>A	uc003bfy.3	+	4	727	c.700C>A	c.(700-702)Ctc>Atc	p.L234I	UPK3A_uc010gzy.3_Missense_Mutation_p.L113I	NM_006953	NP_008884	O75631	UPK3A_HUMAN	Homo sapiens uroplakin 3A (UPK3A), transcript variant 1, mRNA.	234					epithelial cell differentiation	endoplasmic reticulum membrane|integral to membrane				kidney(1)|large_intestine(1)|lung(2)|skin(1)	5		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		TGCCCTCAGCCTCGTGTAAGT	0.627000														60			5		8.12818e-05	8.84769e-05	1	1	0
MPV17	4358	broad.mit.edu	37	2	27545327	27545327	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:27545327C>T	uc002rjr.3	-	0	105	c.58G>A	c.(58-60)Gtc>Atc	p.V20I	MPV17_uc002rjs.3_Missense_Mutation_p.V20I|MPV17_uc002rjt.3_Intron	NM_002437	NP_002428	P39210	MPV17_HUMAN	Homo sapiens MpV17 mitochondrial inner membrane protein (MPV17), nuclear gene encoding mitochondrial protein, mRNA.	20					cellular response to reactive oxygen species|glomerular basement membrane development|homeostatic process|inner ear development|mitochondrial genome maintenance|regulation of reactive oxygen species metabolic process	integral to peroxisomal membrane|mitochondrial inner membrane				lung(4)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCTGTCAGGACCTGTACTTTC	0.627000														46			27		0	0	1	0	0
CPXM1	56265	broad.mit.edu	37	20	2774977	2774977	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:2774977G>T	uc002wgu.3	-	13	2138	c.2064C>A	c.(2062-2064)acC>acA	p.T688T	CPXM1_uc010gas.3_Silent_p.T614T	NM_019609	NP_062555	Q96SM3	CPXM1_HUMAN	Homo sapiens carboxypeptidase X (M14 family), member 1 (CPXM1), transcript variant 1, mRNA.	688					cell adhesion|proteolysis		metallocarboxypeptidase activity|zinc ion binding	p.V687F(1)		endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						CCTCTTCAAAGGTGACCCGAC	0.632000														26			13		2.61681e-11	3.19342e-11	1	1	0
SLC27A5	10998	broad.mit.edu	37	19	59009889	59009889	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:59009889C>A	uc002qtc.2	-	9	2176	c.2066G>T	c.(2065-2067)aGg>aTg	p.R689M	SLC27A5_uc002qtb.3_Non-coding_Transcript	NM_012254	NP_036386	Q9Y2P5	S27A5_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 5 (SLC27A5), mRNA.	689					bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process	endoplasmic reticulum membrane|integral to membrane	ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		TGATCAGAGCCTCCAGGTTCC	0.607000														10			4		1.23904e-05	1.3743e-05	1	1	0
SCN10A	6336	broad.mit.edu	37	3	38739839	38739839	+	Silent	SNP	G	A	A	rs149642957	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:38739839G>A	uc003ciq.3	-	26	4872	c.4872C>T	c.(4870-4872)ttC>ttT	p.F1624F		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	1624					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TGGACATACCGAAGATAGAGT	0.527000														102			10		0	0	1	0	0
NT5C3L	115024	broad.mit.edu	37	17	39991363	39991363	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:39991363G>T	uc021txo.1	-	3	265	c.187C>A	c.(187-189)Ctg>Atg	p.L63M	NT5C3L_uc021txn.1_Missense_Mutation_p.L55M|NT5C3L_uc002hxy.4_Missense_Mutation_p.L55M|KLHL10_uc010cxr.3_5'Flank|KLHL10_uc010wfv.1_5'Flank|KLHL10_uc010wfw.2_5'Flank	NM_052935	NP_443167	C9JKC4	C9JKC4_HUMAN	Homo sapiens 5'-nucleotidase, cytosolic III-like (NT5C3L), transcript variant 1, mRNA.	63						cytoplasm	5'-nucleotidase activity|magnesium ion binding			kidney(1)|large_intestine(6)|lung(2)|prostate(1)|urinary_tract(1)	11		Breast(137;0.000162)		BRCA - Breast invasive adenocarcinoma(366;0.15)		CTATTATCCAGAATATCTGGA	0.428000														113			7		0.00448238	0.0046769	1	1	0
PCDHGC5	56097	broad.mit.edu	37	5	140788768	140788768	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140788768A>G	uc003lkj.2	+	0	999	c.999A>G	c.(997-999)gtA>gtG	p.V333V	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lki.1_Silent_p.V333V	NM_018926	NP_061749	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 6 (PCDHGB6), transcript variant 1, mRNA.	336	Cadherin 3.				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)			AGTGTAAAGTAATCATAGAAA	0.403000														46			33		0	0	1	0	0
LEPRE1	64175	broad.mit.edu	37	1	43220608	43220608	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:43220608T>C	uc001chx.4	-	7	1390	c.1277A>G	c.(1276-1278)aAg>aGg	p.K426R	LEPRE1_uc001chw.2_Missense_Mutation_p.K426R|LEPRE1_uc001chv.2_Missense_Mutation_p.K426R	NM_001243246	NP_001230175	Q32P28	P3H1_HUMAN	Homo sapiens leucine proline-enriched proteoglycan (leprecan) 1 (LEPRE1), transcript variant 3, mRNA.	426					negative regulation of cell proliferation	endoplasmic reticulum|proteinaceous extracellular matrix	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			large_intestine(2)|lung(15)|ovary(5)|prostate(1)|urinary_tract(3)	26	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	CTCGATTTCCTTCATAAGGTT	0.557000														44			5		0	0	1	0	0
IARS	3376	broad.mit.edu	37	9	95033829	95033829	+	Nonsense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:95033829C>A	uc004art.1	-	10	1356	c.1099G>T	c.(1099-1101)Gga>Tga	p.G367*	IARS_uc004ars.1_Nonsense_Mutation_p.G212*|IARS_uc004aru.3_Nonsense_Mutation_p.G367*|IARS_uc010mqr.2_Nonsense_Mutation_p.G257*|IARS_uc010mqt.2_Intron	NM_013417	NP_038203	P41252	SYIC_HUMAN	Homo sapiens isoleucyl-tRNA synthetase (IARS), transcript variant long, mRNA.	367					isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	ACATACTGTCCTGCGAAATCT	0.418000														78			6		0.00198382	0.00208369	1	1	0
NAAA	27163	broad.mit.edu	37	4	76842225	76842225	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:76842225T>G	uc003hjb.3	-	5	782	c.718A>C	c.(718-720)Act>Cct	p.T240P	NAAA_uc003hja.3_Missense_Mutation_p.T240P|NAAA_uc003hjc.4_Missense_Mutation_p.T240P|NAAA_uc003hjd.4_Non-coding_Transcript|NAAA_uc011cbq.2_Missense_Mutation_p.T139P	NM_014435	NP_055250	Q02083	NAAA_HUMAN	Homo sapiens N-acylethanolamine acid amidase (NAAA), transcript variant 1, mRNA.	240				T -> S (in Ref. 4; AAA60119).	lipid metabolic process	lysosome	hydrolase activity			endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	11						ATAAGGGGAGTCTTGGCCAAC	0.547000														30			4		0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94121730	94121730	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:94121730C>T	uc001ybv.1	+	36	6168	c.6085C>T	c.(6085-6087)Ctg>Ttg	p.L2029L	UNC79_uc001ybs.1_Silent_p.L2007L	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA.	2184						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						TTTTGCCAAGCTGCCTTGTGT	0.403000														123			7		0	0	1	0	0
CDH23	64072	broad.mit.edu	37	10	73544138	73544138	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:73544138C>A	uc001jrx.4	+	39	5844	c.5454C>A	c.(5452-5454)atC>atA	p.I1818I		NM_022124	NP_071407	Q9H251	CAD23_HUMAN	Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA.	1821	Cadherin 17.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	p.E1817G(1)		NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						ACCTGACCATCTGTGCCCGTG	0.637000														38			23		3.08376e-08	3.60755e-08	1	1	0
GZF1	64412	broad.mit.edu	37	20	23350797	23350797	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:23350797G>A	uc010gdb.3	+	6	2029	c.1855G>A	c.(1855-1857)Gga>Aga	p.G619R	GZF1_uc002wsy.3_Missense_Mutation_p.G619R|GZF1_uc010zsq.2_Missense_Mutation_p.G143R|GZF1_uc010zsr.2_Missense_Mutation_p.G128R|GZF1_uc002wsz.3_Missense_Mutation_p.G619R	NM_022482	NP_071927	Q9H116	GZF1_HUMAN	Homo sapiens GDNF-inducible zinc finger protein 1 (GZF1), mRNA.	619					transcription, DNA-dependent	nucleolus|nucleoplasm	sequence-specific DNA binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					GAACGATGACGGACACAAGAC	0.433000														25			10		0	0	1	0	0
COCH	1690	broad.mit.edu	37	14	31354669	31354669	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:31354669A>G	uc001wqr.2	+	9	883	c.803A>G	c.(802-804)aAa>aGa	p.K268R	COCH_uc001wqp.2_Missense_Mutation_p.K268R|COCH_uc001wqq.4_Missense_Mutation_p.K268R|LOC100506071_uc001wqs.3_Non-coding_Transcript|COCH_uc001wqt.1_Missense_Mutation_p.K119R	NM_004086	NP_004077	O43405	COCH_HUMAN	Homo sapiens coagulation factor C homolog, cochlin (Limulus polyphemus) (COCH), transcript variant 2, mRNA.	268	VWFA 1.				sensory perception of sound	proteinaceous extracellular matrix		p.P267S(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|pancreas(1)|skin(3)	19	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.00645)		GGGATCCCCAAAGTGGTGGTG	0.418000														93			5		0	0	1	0	0
MPDZ	8777	broad.mit.edu	37	9	13119520	13119520	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:13119520G>A	uc010mia.1	-	37	5417	c.5360C>T	c.(5359-5361)gCg>gTg	p.A1787V	MPDZ_uc003zkx.4_Missense_Mutation_p.A52V|MPDZ_uc003zky.4_Missense_Mutation_p.A321V|MPDZ_uc010mib.3_Missense_Mutation_p.A492V|MPDZ_uc010mhx.3_Missense_Mutation_p.A609V|MPDZ_uc011lmm.2_Missense_Mutation_p.A646V|MPDZ_uc003zkz.4_Missense_Mutation_p.A480V|MPDZ_uc010mhz.3_Missense_Mutation_p.A1754V|MPDZ_uc011lmn.2_Missense_Mutation_p.A1754V|MPDZ_uc010mhy.3_Missense_Mutation_p.A1787V|MPDZ_uc003zlb.4_Missense_Mutation_p.A1787V	NM_003829	NP_003820	O75970	MPDZ_HUMAN	Homo sapiens multiple PDZ domain protein (MPDZ), mRNA.	1787	PDZ 11.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		AGCGGCAACCGCTTCTTGGGT	0.388000														82			13		0	0	1	0	0
USP43	124739	broad.mit.edu	37	17	9632155	9632155	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:9632155C>T	uc010cod.3	+	14	3220	c.3220C>T	c.(3220-3222)Cgt>Tgt	p.R1074C	USP43_uc002gma.4_Missense_Mutation_p.R763C|USP43_uc010vva.2_Missense_Mutation_p.R1069C|USP43_uc010coe.3_Missense_Mutation_p.R871C|USP43_uc002gmc.4_Missense_Mutation_p.R586C	NM_153210	NP_694942	Q70EL4	UBP43_HUMAN	Homo sapiens ubiquitin specific peptidase 43 (USP43), mRNA.	1074					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						CCGCCTCCCTCGTAAAGCCAG	0.632000														24			22		0	0	1	0	0
DDX24	57062	broad.mit.edu	37	14	94545559	94545559	+	Missense_Mutation	SNP	G	A	A	rs145620061	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:94545559G>A	uc001ycj.3	-	1	629	c.530C>T	c.(529-531)gCg>gTg	p.A177V	DDX24_uc010twq.2_Missense_Mutation_p.A134V|DDX24_uc010twr.2_Intron|IFI27L1_uc001ycl.3_5'Flank|IFI27L1_uc001yck.3_5'Flank	NM_020414	NP_065147	Q9GZR7	DDX24_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 24 (DDX24), mRNA.	177					RNA metabolic process	cytoplasm|nucleolus	ATP binding|ATP-dependent RNA helicase activity|RNA binding|protein binding			cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23		all_cancers(154;0.12)		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)		CCATGTCTTCGCTTTTTTGGG	0.468000														30			25		0	0	1	0	0
TEP1	7011	broad.mit.edu	37	14	20851712	20851712	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:20851712C>T	uc001vxe.3	-	25	3842	c.3802G>A	c.(3802-3804)Gct>Act	p.A1268T	TEP1_uc010ahk.3_Missense_Mutation_p.A618T|TEP1_uc010tlf.1_Non-coding_Transcript|TEP1_uc010tlg.1_Missense_Mutation_p.A1160T|TEP1_uc010tlh.1_5'Flank	NM_007110	NP_009041	Q99973	TEP1_HUMAN	Homo sapiens telomerase-associated protein 1 (TEP1), mRNA.	1268	NACHT.				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		AACCTATCAGCCCCATCGATG	0.587000														26			12		0	0	1	0	0
IFIT2	3433	broad.mit.edu	37	10	91066650	91066650	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:91066650C>A	uc009xts.3	+	1	1112	c.937C>A	c.(937-939)Ctg>Atg	p.L313M	LIPA_uc001kgb.4_Intron|LIPA_uc001kgc.4_Intron|BC040833_uc001kgd.3_Intron	NM_001547	NP_001538	P09913	IFIT2_HUMAN	Homo sapiens interferon-induced protein with tetratricopeptide repeats 2 (IFIT2), mRNA.	313					negative regulation of protein binding|response to virus|type I interferon-mediated signaling pathway		protein binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	12		Colorectal(252;0.0161)				AAGAAAGTTACTGGAACTAAT	0.443000														56			33		4.3181e-19	5.55175e-19	1	1	0
MUC6	4588	broad.mit.edu	37	11	1024853	1024853	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:1024853G>A	uc001lsw.2	-	23	3267	c.3216C>T	c.(3214-3216)tgC>tgT	p.C1072C		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	Homo sapiens mucin 6, oligomeric mucus/gel-forming (MUC6), mRNA.	1072	VWFD 3.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|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;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCTTGCTGTGGCAGGTGGCAA	0.672000														15			13		0	0	1	0	0
TDRD9	122402	broad.mit.edu	37	14	104460675	104460675	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:104460675G>A	uc001yom.4	+	9	1217	c.1187G>A	c.(1186-1188)gGt>gAt	p.G396D	TDRD9_uc001yon.4_Missense_Mutation_p.G134D	NM_153046	NP_694591	Q8NDG6	TDRD9_HUMAN	Homo sapiens tudor domain containing 9 (TDRD9), mRNA.	396	Helicase C-terminal.				DNA methylation involved in gamete generation|cell differentiation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	nucleus|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)				CTAGGTCTGGGTGAAATAAAT	0.338000														143			9		0	0	1	0	0
C8orf80	389643	broad.mit.edu	37	8	27922074	27922074	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:27922074C>T	uc003xgm.4	-	6	1029	c.886G>A	c.(886-888)Gac>Aac	p.D296N		NM_001010906	NP_001010906	Q68CJ6	SLIP_HUMAN	Homo sapiens chromosome 8 open reading frame 80 (C8orf80), mRNA.	296						nucleus	GTP binding|GTPase activity	p.D296N(2)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|skin(1)|stomach(1)	35		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.126)|Kidney(114;0.15)|Colorectal(74;0.181)		CTGTTGAAGTCGCCTGTGCCT	0.507000														26			11		0	0	1	0	0
MLL2	8085	broad.mit.edu	37	19	36214652	36214652	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:36214652G>A	uc021usv.1	+	7	3078	c.3078G>A	c.(3076-3078)acG>acA	p.T1026T	MLL2_uc021usu.1_5'UTR	NM_014727	NP_055542	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 4 (MLL4), mRNA.	769	Pro-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						TAGTGAAGACGCTGTTGCCCT	0.657000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				8			4		0	0	1	0	0
IL17RA	23765	broad.mit.edu	37	22	17589306	17589306	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:17589306C>T	uc002zly.3	+	12	1328	c.1197C>T	c.(1195-1197)gcC>gcT	p.A399A		NM_014339	NP_055154	Q96F46	I17RA_HUMAN	Homo sapiens interleukin 17 receptor A (IL17RA), mRNA.	399	SEFIR.				fibroblast activation|positive regulation of interleukin-23 production	integral to plasma membrane	interleukin-17 receptor activity			endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1)	30		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.241)		TGAAATTCGCCCAGTTCCTGC	0.642000														30			17		0	0	1	0	0
KIDINS220	57498	broad.mit.edu	37	2	8891719	8891719	+	Nonsense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:8891719C>A	uc002qzc.2	-	22	3249	c.3067G>T	c.(3067-3069)Gga>Tga	p.G1023*	KIDINS220_uc010yiv.1_Nonsense_Mutation_p.G789*|KIDINS220_uc002qzd.2_Nonsense_Mutation_p.G981*|KIDINS220_uc010yiw.1_Nonsense_Mutation_p.G1024*|KIDINS220_uc002qzb.2_5'Flank|KIDINS220_uc002qze.3_Nonsense_Mutation_p.G28*	NM_020738	NP_065789	Q9ULH0	KDIS_HUMAN	Homo sapiens kinase D-interacting substrate, 220kDa (KIDINS220), mRNA.	1023					activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CTTATATCTCCATCAATTTCA	0.333000														61			5		0.000602214	0.000641151	1	1	0
NOTCH3	4854	broad.mit.edu	37	19	15271598	15271598	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:15271598C>T	uc002nan.3	-	32	6917	c.6841G>A	c.(6841-6843)Gcc>Acc	p.A2281T		NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	Homo sapiens notch 3 (NOTCH3), mRNA.	2281					Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			GTGGTGGTGGCCATGGCCCCA	0.672000														28			18		0	0	1	0	0
RARRES1	5918	broad.mit.edu	37	3	158415601	158415601	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:158415601G>A	uc003fci.3	-	5	822	c.751C>T	c.(751-753)Cgc>Tgc	p.R251C		NM_206963	NP_996846	P49788	TIG1_HUMAN	Homo sapiens retinoic acid receptor responder (tazarotene induced) 1 (RARRES1), transcript variant 1, mRNA.	251					negative regulation of cell proliferation	integral to membrane		p.R251H(1)		NS(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)	9			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)		Tretinoin(DB00755)	AAGTGAATGCGACAGGGAATT	0.378000														54			28		0	0	1	0	0
RNF113B	140432	broad.mit.edu	37	13	98829411	98829411	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:98829411C>T	uc001vnk.3	-	0	111	c.80G>A	c.(79-81)cGg>cAg	p.R27Q	FARP1_uc001vnh.3_Intron|FARP1_uc001vni.3_Intron|FARP1_uc001vnj.3_Intron	NM_178861	NP_849192	Q8IZP6	R113B_HUMAN	Homo sapiens ring finger protein 113B (RNF113B), mRNA.	27							nucleic acid binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.13)			AGCCCCTTTCCGTCCAGGCTT	0.647000														16			7		0	0	1	0	0
DOT1L	84444	broad.mit.edu	37	19	2226610	2226610	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:2226610G>A	uc002lvc.1	+	12	2739	c.1972G>A	c.(1972-1974)Gcc>Acc	p.A658T	DOT1L_uc002lvb.4_Missense_Mutation_p.A1364T	NM_032482	NP_115871	Q8TEK3	DOT1L_HUMAN	Homo sapiens DOT1-like, histone H3 methyltransferase (S. cerevisiae) (DOT1L), mRNA.	1364						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGCTCGGACGCCAACCCTTT	0.706000														5			8		0	0	1	0	0
CPSF7	79869	broad.mit.edu	37	11	61196686	61196686	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:61196686T>C	uc001nrq.3	-	1	156	c.22A>G	c.(22-24)Att>Gtt	p.I8V	SDHAF2_uc001nrt.3_5'Flank|CPSF7_uc001nrp.3_Missense_Mutation_p.I51V|CPSF7_uc001nrr.3_Missense_Mutation_p.I8V|CPSF7_uc001nrs.1_5'UTR|CPSF7_uc009ynp.2_Missense_Mutation_p.I8V	NM_001136040	NP_001129512	Q8N684	CPSF7_HUMAN	Homo sapiens cleavage and polyadenylation specific factor 7, 59kDa (CPSF7), transcript variant 2, mRNA.	8					mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	mRNA cleavage factor complex	RNA binding|nucleotide binding|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	22						TATATATCAATCAAGTCCACT	0.478000														85			70		0	0	1	0	0
MYO10	4651	broad.mit.edu	37	5	16676221	16676221	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:16676221G>A	uc003jft.4	-	33	5053	c.4585C>T	c.(4585-4587)Cgg>Tgg	p.R1529W	MYO10_uc011cnb.2_Missense_Mutation_p.R158W|MYO10_uc011cnc.2_Missense_Mutation_p.R408W|MYO10_uc011cnd.2_Missense_Mutation_p.R886W|MYO10_uc011cne.2_Missense_Mutation_p.R886W|MYO10_uc010itx.3_Missense_Mutation_p.R1151W	NM_012334	NP_036466	Q9HD67	MYO10_HUMAN	Homo sapiens myosin X (MYO10), mRNA.	1529					axon guidance|signal transduction	myosin complex	ATP binding|actin binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						ATCGGGTTCCGCTTGTAAATC	0.463000														39			31		0	0	1	0	0
ABCD1	215	broad.mit.edu	37	X	153005669	153005669	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153005669C>T	uc004fif.2	+	5	2011	c.1612C>T	c.(1612-1614)Cgc>Tgc	p.R538C		NM_000033	NP_000024	P33897	ABCD1_HUMAN	Homo sapiens ATP-binding cassette, sub-family D (ALD), member 1 (ABCD1), mRNA.	538	ABC transporter.				fatty acid beta-oxidation using acyl-CoA oxidase|peroxisomal membrane transport|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|identical protein binding|peroxisomal fatty-acyl-CoA transporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(2)	18	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCCACCCCAGCGCATGTTCTA	0.637000														60			28		0	0	1	0	0
OR4A47	403253	broad.mit.edu	37	11	48511062	48511062	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:48511062T>C	uc010rhx.2	+	0	718	c.718T>C	c.(718-720)Tcc>Ccc	p.S240P		NM_001005512	NP_001005512	Q6IF82	O4A47_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 47 (OR4A47), mRNA.	240					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						AACCTGCAGTTCCCACATGAC	0.413000														118			100		0	0	1	0	0
TRIM38	10475	broad.mit.edu	37	6	25983700	25983700	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:25983700G>T	uc003nfm.3	+	7	1618	c.1183G>T	c.(1183-1185)Gca>Tca	p.A395S	TRIM38_uc010jqd.3_Missense_Mutation_p.A31S	NM_006355	NP_006346	O00635	TRI38_HUMAN	Homo sapiens tripartite motif containing 38 (TRIM38), mRNA.	395	B30.2/SPRY.				positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular	signal transducer activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	23						AGGCTATGTAGCACTTACTTC	0.493000														62			35		7.93934e-33	1.04997e-32	1	1	0
COPB2	9276	broad.mit.edu	37	3	139079976	139079976	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:139079976C>T	uc003etf.4	-	16	2287	c.2157G>A	c.(2155-2157)gcG>gcA	p.A719A	COPB2_uc011bmv.2_Silent_p.A690A|COPB2_uc010hui.3_Silent_p.A690A	NM_004766	NP_004757	P35606	COPB2_HUMAN	Homo sapiens coatomer protein complex, subunit beta 2 (beta prime) (COPB2), transcript variant 1, mRNA.	719					COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity	p.A719A(2)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	24						CATCTCTCTCCGCACCCTCTG	0.443000														186			20		0	0	1	0	0
SLC27A1	376497	broad.mit.edu	37	19	17597580	17597580	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:17597580G>A	uc002ngu.1	+	1	426	c.376G>A	c.(376-378)Gcg>Acg	p.A126T	SLC27A1_uc002ngt.1_Intron|SLC27A1_uc010xpp.1_5'UTR	NM_198580	NP_940982	Q6PCB7	S27A1_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 1 (SLC27A1), mRNA.	126					cardiolipin biosynthetic process|fatty acid metabolic process|long-chain fatty acid transport|negative regulation of phospholipid biosynthetic process|phosphatidic acid biosynthetic process|phosphatidylcholine biosynthetic process|phosphatidylethanolamine biosynthetic process|phosphatidylinositol biosynthetic process|phosphatidylserine biosynthetic process|transmembrane transport	endomembrane system|integral to membrane	fatty acid transporter activity|nucleotide binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						GCTGGGCTTCGCGCCGGGCGA	0.706000														6			4		0	0	1	0	0
CFP	5199	broad.mit.edu	37	X	47486268	47486268	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:47486268G>A	uc004dih.3	-	6	1086	c.844C>T	c.(844-846)Cgg>Tgg	p.R282W	CFP_uc004dig.4_Missense_Mutation_p.R282W|CFP_uc004dii.1_Missense_Mutation_p.R218W|CFP_uc010nhu.2_Missense_Mutation_p.R282W	NM_002621	NP_002612	P27918	PROP_HUMAN	Homo sapiens complement factor properdin (CFP), transcript variant 1, mRNA.	282	TSP type-1 4.				complement activation, alternative pathway|defense response to bacterium	extracellular space				breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	18						TTGCACGTCCGTTGTTCCATG	0.667000														13			4		0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55721597	55721597	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:55721597G>T	uc010qhy.1	-	22	3334	c.2939C>A	c.(2938-2940)cCt>cAt	p.P980H	PCDH15_uc010qhq.2_Missense_Mutation_p.P980H|PCDH15_uc010qhr.2_Missense_Mutation_p.P975H|PCDH15_uc021pqv.1_Missense_Mutation_p.P975H|PCDH15_uc021pqw.1_Missense_Mutation_p.P987H|PCDH15_uc010qht.2_Missense_Mutation_p.P982H|PCDH15_uc021pqx.1_Missense_Mutation_p.P975H|PCDH15_uc001jjv.1_Intron|PCDH15_uc021pqy.1_Missense_Mutation_p.P975H|PCDH15_uc021pqz.1_Missense_Mutation_p.P953H|PCDH15_uc010qhv.1_Missense_Mutation_p.P975H|PCDH15_uc010qhw.1_Missense_Mutation_p.P938H|PCDH15_uc010qhx.1_Missense_Mutation_p.P904H|PCDH15_uc010qhz.1_Missense_Mutation_p.P975H|PCDH15_uc010qia.1_Missense_Mutation_p.P953H|PCDH15_uc001jju.1_Missense_Mutation_p.P975H|PCDH15_uc010qib.1_Missense_Mutation_p.P953H	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	975	Cadherin 9.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				AATACTGGCAGGGTAAGGAAA	0.328000										HNSCC(58;0.16)				95			6		0.0293803	0.0299714	1	1	0
ARHGAP20	57569	broad.mit.edu	37	11	110451634	110451634	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:110451634G>A	uc001pkz.1	-	15	2321	c.2036C>T	c.(2035-2037)gCc>gTc	p.A679V	ARHGAP20_uc001pky.1_Missense_Mutation_p.A656V|ARHGAP20_uc009yyb.1_Missense_Mutation_p.A643V|ARHGAP20_uc001pla.1_Missense_Mutation_p.A643V|ARHGAP20_uc001plb.2_Missense_Mutation_p.A222V	NM_020809	NP_065860	Q9P2F6	RHG20_HUMAN	Homo sapiens Rho GTPase activating protein 20 (ARHGAP20), mRNA.	679					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		TGTGCACATGGCAGATGGGGC	0.532000														30			31		0	0	1	0	0
SAP30BP	29115	broad.mit.edu	37	17	73702562	73702562	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:73702562C>T	uc002jpe.3	+	10	942	c.888C>T	c.(886-888)atC>atT	p.I296I	SAP30BP_uc010wsf.1_Non-coding_Transcript|SAP30BP_uc002jpf.3_Silent_p.I280I|SAP30BP_uc021udb.1_Non-coding_Transcript	NM_013260	NP_037392	Q9UHR5	S30BP_HUMAN	Homo sapiens SAP30 binding protein (SAP30BP), mRNA.	296					apoptosis|induction of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)	17	all_cancers(13;6.42e-08)		all cancers(21;4.25e-07)|Epithelial(20;9.57e-07)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			CCACCGTCATCTCTGCTGTGG	0.622000														73			50		0	0	1	0	0
RCOR1	23186	broad.mit.edu	37	14	103174910	103174910	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:103174910C>T	uc001ymb.3	+	5	997	c.760C>T	c.(760-762)Cgg>Tgg	p.R254W		NM_015156	NP_055971	Q9UKL0	RCOR1_HUMAN	Homo sapiens REST corepressor 1 (RCOR1), mRNA.	254	Interaction with HDAC1.				blood coagulation|histone H4 deacetylation|interspecies interaction between organisms	transcriptional repressor complex	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|protein binding|transcription regulatory region DNA binding			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	12						AAAACGGGAGCGGGAGGAGAG	0.468000														87			59		0	0	1	0	0
CTRB2	440387	broad.mit.edu	37	16	75238090	75238090	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:75238090G>T	uc002fdr.3	-	6	794	c.761C>A	c.(760-762)cCc>cAc	p.P254H		NM_001025200	NP_001020371	Q6GPI1	CTRB2_HUMAN	Homo sapiens chymotrypsinogen B2 (CTRB2), mRNA.	254	Peptidase S1.				digestion|proteolysis	extracellular space	serine-type endopeptidase activity			endometrium(1)|large_intestine(1)|lung(2)	4						CTGCACCCAGGGTATGAGCTT	0.612000														61			27		9.39395e-14	1.17142e-13	1	1	0
UBA3	9039	broad.mit.edu	37	3	69120750	69120750	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:69120750G>A	uc003dno.3	-	4	303	c.283C>T	c.(283-285)Cag>Tag	p.Q95*	UBA3_uc003dnq.3_Nonsense_Mutation_p.Q81*|UBA3_uc011bfy.2_5'UTR|UBA3_uc011bfz.2_Intron	NM_003968	NP_003959	Q8TBC4	UBA3_HUMAN	Homo sapiens ubiquitin-like modifier activating enzyme 3 (UBA3), transcript variant 1, mRNA.	95					protein neddylation|proteolysis	nucleus	ATP binding|acid-amino acid ligase activity|protein heterodimerization activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.98e-05)|Epithelial(33;0.000363)|LUSC - Lung squamous cell carcinoma(21;0.012)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.206)|Kidney(39;0.241)		ACATGAATCTGTCTAAAACCA	0.299000														31			6		0	0	1	0	0
IRS1	3667	broad.mit.edu	37	2	227662846	227662846	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:227662846G>A	uc021vxn.1	-	0	609	c.609C>T	c.(607-609)gcC>gcT	p.A203A	IRS1_uc002voh.4_Silent_p.A203A	NM_005544	NP_005535	P35568	IRS1_HUMAN	Homo sapiens insulin receptor substrate 1 (IRS1), mRNA.	203	IRS-type PTB.				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	SH2 domain binding|insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		GCAGCACCACGGCCGCTGCCT	0.592000											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		29			15		0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228475655	228475655	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:228475655G>T	uc009xez.1	+	35	9849	c.9805G>T	c.(9805-9807)Gtg>Ttg	p.V3269L	OBSCN_uc001hsn.3_Missense_Mutation_p.V3269L|OBSCN_uc001hsq.1_Missense_Mutation_p.V525L	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	3269					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	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase 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)				CACCCTCACAGTGACTGGTAA	0.602000														24			10		1.08611e-07	1.25606e-07	1	1	0
KIR3DX1	90011	broad.mit.edu	37	19	55048342	55048342	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:55048342C>A	uc010erm.2	+	0	222	c.210C>A	c.(208-210)ccC>ccA	p.P70P	KIR3DX1_uc010yfa.1_Non-coding_Transcript|KIR3DX1_uc010yfb.1_Non-coding_Transcript|KIR3DX1_uc010yfc.1_Non-coding_Transcript|KIR3DX1_uc010yfd.1_Non-coding_Transcript					Homo sapiens killer cell immunoglobulin-like receptor, three domains, X1 (KIR3DX1), non-coding RNA.											endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|skin(1)	24				GBM - Glioblastoma multiforme(193;0.099)		ATGACTCTCCCTATAAGCCCC	0.572000														68			5		0.0293803	0.0299714	1	1	0
BTNL8	79908	broad.mit.edu	37	5	180377169	180377169	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:180377169G>A	uc003mmp.3	+	7	1362	c.1128G>A	c.(1126-1128)ggG>ggA	p.G376G	BTNL8_uc003mmq.3_3'UTR|BTNL8_uc010jll.3_3'UTR|BTNL8_uc011dhg.2_Silent_p.G251G|BTNL8_uc010jlm.3_Silent_p.G260G|BTNL8_uc011dhh.2_Silent_p.G192G	NM_001040462	NP_001153182	Q6UX41	BTNL8_HUMAN	Homo sapiens butyrophilin-like 8 (BTNL8), transcript variant 2, mRNA.	376	B30.2/SPRY.					integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCGATCATGGGTACTGGGTCC	0.517000														33			18		0	0	1	0	0
FTSJD2	23070	broad.mit.edu	37	6	37429388	37429388	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:37429388C>T	uc003ons.3	+	10	1412	c.1159C>T	c.(1159-1161)Cag>Tag	p.Q387*	FTSJD2_uc010jwu.2_Nonsense_Mutation_p.Q331*	NM_015050	NP_055865	Q8N1G2	MTR1_HUMAN	Homo sapiens FtsJ methyltransferase domain containing 2 (FTSJD2), mRNA.	387					mRNA capping	cytoplasm|nucleus	mRNA (nucleoside-2'-O-)-methyltransferase activity|nucleic acid binding			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(6)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(2)	31						GCTTCTGTGTCAGTTCCTCAT	0.552000														37			13		0	0	1	0	0
GSTA5	221357	broad.mit.edu	37	6	52696717	52696717	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:52696717G>A	uc003pba.1	-	6	668	c.598C>T	c.(598-600)Cct>Tct	p.P200S		NM_153699	NP_714543	Q7RTV2	GSTA5_HUMAN	Homo sapiens glutathione S-transferase alpha 5 (GSTA5), mRNA.	200	GST C-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Lung NSC(77;0.0912)				Glutathione(DB00143)	TGGCTGCCAGGCTGCAGAAAC	0.498000														55			39		0	0	1	0	0
XKRX	402415	broad.mit.edu	37	X	100169500	100169500	+	Missense_Mutation	SNP	T	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:100169500T>A	uc004egn.2	-	2	1782	c.1177A>T	c.(1177-1179)Att>Ttt	p.I393F	XKRX_uc011mre.1_Missense_Mutation_p.I189F	NM_212559	NP_997724	Q6PP77	XKR2_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related, X-linked (XKRX), mRNA.	393						integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(3)	22						CCAATGGAAATCAGATAAGCA	0.408000														144			9		0	0	1	0	0
DENND5A	23258	broad.mit.edu	37	11	9164959	9164959	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:9164959A>G	uc001mhl.3	-	19	3635	c.3378T>C	c.(3376-3378)ccT>ccC	p.P1126P	DENND5A_uc001mhk.3_Silent_p.P469P|DENND5A_uc010rbw.2_Silent_p.P1126P	NM_015213	NP_056028	Q6IQ26	DEN5A_HUMAN	Homo sapiens DENN/MADD domain containing 5A (DENND5A), transcript variant 1, mRNA.	1126										breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CCTCTTTCTCAGGCTTATGGA	0.458000														261			29		0	0	1	0	0
IGF1R	3480	broad.mit.edu	37	15	99467760	99467760	+	Nonsense_Mutation	SNP	C	T	T	rs150221450		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:99467760C>T	uc002bul.3	+	12	2679	c.2629C>T	c.(2629-2631)Cga>Tga	p.R877*	IGF1R_uc010bon.3_Nonsense_Mutation_p.R877*|IGF1R_uc010boo.1_Non-coding_Transcript	NM_000875	NP_000866	P08069	IGF1R_HUMAN	Homo sapiens insulin-like growth factor 1 receptor (IGF1R), mRNA.	877	Fibronectin type-III 3.				anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of DNA replication|positive regulation of cell migration|positive regulation of cell proliferation|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	CCAGGATCAGCGAGAATGTGT	0.517000														101			58		0	0	1	0	0
NOTCH2	4853	broad.mit.edu	37	1	120466300	120466300	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:120466300G>A	uc001eik.3	-	25	5116	c.4819C>T	c.(4819-4821)Cgc>Tgc	p.R1607C		NM_024408	NP_077719	Q04721	NOTC2_HUMAN	Homo sapiens notch 2 (NOTCH2), transcript variant 1, mRNA.	1607	Negative regulatory region (NRR).				Notch receptor processing|Notch signaling pathway|anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGGGATCTGCGTGTCATCCTC	0.488000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome					71			49		0	0	1	0	0
PHLPP2	23035	broad.mit.edu	37	16	71715723	71715723	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:71715723A>C	uc002fax.3	-	4	827	c.821T>G	c.(820-822)aTt>aGt	p.I274S	PHLPP2_uc002fav.3_Non-coding_Transcript|PHLPP2_uc010cgf.3_Missense_Mutation_p.I274S|PHLPP2_uc002fay.1_Missense_Mutation_p.I274S	NM_015020	NP_055835	Q6ZVD8	PHLP2_HUMAN	Homo sapiens PH domain and leucine rich repeat protein phosphatase 2 (PHLPP2), mRNA.	274						cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						GAGGTAGGTAATATCTTGACT	0.468000														95			5		0	0	1	0	0
SPAG9	9043	broad.mit.edu	37	17	49067996	49067996	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:49067996T>C	uc002itc.3	-	19	2641	c.2432A>G	c.(2431-2433)gAt>gGt	p.D811G	SPAG9_uc002itd.3_Missense_Mutation_p.D801G|SPAG9_uc002itb.3_Missense_Mutation_p.D797G|SPAG9_uc002itf.3_Missense_Mutation_p.D632G|SPAG9_uc002ita.3_Missense_Mutation_p.D654G|SPAG9_uc002ite.3_Missense_Mutation_p.D641G	NM_001130528	NP_001124000	O60271	JIP4_HUMAN	Homo sapiens sperm associated antigen 9 (SPAG9), transcript variant 1, mRNA.	811					positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis	acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm				NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			TTCTGAAAGATCTTCTCCTGC	0.388000														72			11		0	0	1	0	0
TSNARE1	203062	broad.mit.edu	37	8	143310941	143310941	+	Splice_Site	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:143310941C>A	uc003ywj.3	-	12	1489	c.1450_splice	c.e12-1	p.L484_splice	TSNARE1_uc011lju.2_Splice_Site_p.L482_splice|TSNARE1_uc003ywk.3_Splice_Site_p.L483_splice	NM_145003	NP_659440	Q96NA8	TSNA1_HUMAN	Homo sapiens t-SNARE domain containing 1 (TSNARE1), mRNA.	483					vesicle-mediated transport	integral to membrane				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)					GTCTCTGGAGCTGGGAGAGAG	0.537000														20			11		3.86212e-05	4.23294e-05	1	1	0
WDTC1	23038	broad.mit.edu	37	1	27589652	27589652	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:27589652G>A	uc009vst.2	+	2	593	c.58G>A	c.(58-60)Gcc>Acc	p.A20T	WDTC1_uc001bno.3_Missense_Mutation_p.A20T|WDTC1_uc001bnp.1_Non-coding_Transcript	NM_015023	NP_055838	Q8N5D0	WDTC1_HUMAN	Homo sapiens WD and tetratricopeptide repeats 1 (WDTC1), mRNA.	20							protein binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	21		all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476)		GGAGCGGGGTGCCCTGAGCTT	0.483000														38			23		0	0	1	0	0
SLCO4A1	28231	broad.mit.edu	37	20	61291876	61291876	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:61291876C>T	uc002ydb.1	+	3	1205	c.1000C>T	c.(1000-1002)Cag>Tag	p.Q334*		NM_016354	NP_057438	Q96BD0	SO4A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 4A1 (SLCO4A1), mRNA.	334					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2)	21	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;2.33e-06)			TTACCCTCGGCAGCTGCCAGG	0.637000														35			39		0	0	1	0	0
PDZD4	57595	broad.mit.edu	37	X	153069213	153069213	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153069213G>A	uc004fja.1	-	7	2173	c.1923C>T	c.(1921-1923)taC>taT	p.Y641Y	PDZD4_uc004fiy.1_Silent_p.Y560Y|PDZD4_uc004fiz.1_Silent_p.Y635Y|PDZD4_uc004fix.2_Silent_p.Y539Y|PDZD4_uc011mze.1_Silent_p.Y526Y|PDZD4_uc022chy.1_Silent_p.Y14Y	NM_032512	NP_115901	Q76G19	PDZD4_HUMAN	Homo sapiens PDZ domain containing 4 (PDZD4), mRNA.	635						cell cortex				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCTTGGCCACGTAGCGGGTTC	0.706000														44			21		0	0	1	0	0
PAPLN	89932	broad.mit.edu	37	14	73718426	73718426	+	Missense_Mutation	SNP	C	T	T	rs150353286		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:73718426C>T	uc010ttx.2	+	7	888	c.725C>T	c.(724-726)gCg>gTg	p.A242V	PAPLN_uc001xnw.4_Missense_Mutation_p.A215V|PAPLN_uc010arl.3_Non-coding_Transcript|PAPLN_uc010ttw.2_Non-coding_Transcript|PAPLN_uc010tty.2_Missense_Mutation_p.A242V	NM_173462	NP_775733	O95428	PPN_HUMAN	Homo sapiens papilin, proteoglycan-like sulfated glycoprotein (PAPLN), mRNA.	242						proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		ACCATCGAGGCGGCCCGGGCC	0.672000														42			30		0	0	1	0	0
CNTFR	1271	broad.mit.edu	37	9	34564615	34564615	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:34564615C>T	uc003zup.2	-	3	595	c.301G>A	c.(301-303)Gtc>Atc	p.V101I	CNTFR_uc003zuq.2_Missense_Mutation_p.V101I|CNTFR_uc022bgg.1_Missense_Mutation_p.V101I	NM_147164	NP_671693	P26992	CNTFR_HUMAN	Homo sapiens ciliary neurotrophic factor receptor (CNTFR), transcript variant 1, mRNA.	101	Ig-like C2-type.				nervous system development	anchored to membrane|extrinsic to membrane|plasma membrane	ciliary neurotrophic factor receptor activity|receptor binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(4)|skin(1)	15	all_epithelial(49;0.0899)		STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.00494)		TGCAGCAGGACTTGGTGGCGC	0.627000														6			7		0	0	1	0	0
RAX2	84839	broad.mit.edu	37	19	3771688	3771688	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:3771688G>A	uc002lyr.3	-	1	380	c.191C>T	c.(190-192)cCg>cTg	p.P64L	RAX2_uc002lys.3_Missense_Mutation_p.P18L|RAX2_uc010dtp.2_Non-coding_Transcript	NM_032753	NP_116142	Q96IS3	RAX2_HUMAN	Homo sapiens retina and anterior neural fold homeobox 2 (RAX2), mRNA.	18					response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)	1		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00463)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCCTCGCCCGGCCCCAGACC	0.701000														17			4		0	0	1	0	0
MAP4K5	11183	broad.mit.edu	37	14	50892641	50892641	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:50892641C>T	uc001wya.3	-	29	2701	c.2381G>A	c.(2380-2382)aGc>aAc	p.S794N	MAP4K5_uc001wyb.3_Missense_Mutation_p.S794N	NM_006575	NP_006566	Q9Y4K4	M4K5_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase kinase 5 (MAP4K5), transcript variant 1, mRNA.	794	CNH.				activation of JUN kinase activity	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	all_epithelial(31;0.000415)|Breast(41;0.0102)					TGACTTGAAGCTTTTACCCTG	0.403000														12			9		0	0	1	0	0
CCDC150	284992	broad.mit.edu	37	2	197511119	197511119	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:197511119G>A	uc002utp.1	+	1	202	c.67G>A	c.(67-69)Gct>Act	p.A23T	CCDC150_uc002uto.1_Missense_Mutation_p.A23T|CCDC150_uc010zgq.1_Intron|CCDC150_uc010zgr.1_Non-coding_Transcript|CCDC150_uc010zgs.1_5'UTR	NM_001080539	NP_001074008	Q8NCX0	CC150_HUMAN	Homo sapiens coiled-coil domain containing 150 (CCDC150), mRNA.	23								p.N22K(1)		breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						CCACATCAACGCTACAGCTTC	0.418000														64			42		0	0	1	0	0
PLCB3	5331	broad.mit.edu	37	11	64026160	64026160	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:64026160C>A	uc009ypi.3	+	10	1355	c.1228C>A	c.(1228-1230)Ctc>Atc	p.L410I	PLCB3_uc009ypg.2_Missense_Mutation_p.L410I|PLCB3_uc009yph.2_Missense_Mutation_p.L343I	NM_000932	NP_000923	Q01970	PLCB3_HUMAN	Homo sapiens phospholipase C, beta 3 (phosphatidylinositol-specific) (PLCB3), transcript variant 1, mRNA.	410	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						CCCCGTCATCCTCTCCTTCGA	0.602000														35			22		1.85244e-09	2.20857e-09	1	1	0
CLEC1A	51267	broad.mit.edu	37	12	10228126	10228126	+	Nonsense_Mutation	SNP	T	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:10228126T>A	uc001qxb.3	-	3	604	c.520A>T	c.(520-522)Aag>Tag	p.K174*	CLEC1A_uc001qxd.3_Nonsense_Mutation_p.K131*|CLEC1A_uc010sgx.2_Nonsense_Mutation_p.K72*	NM_016511	NP_057595	Q8NC01	CLC1A_HUMAN	Homo sapiens C-type lectin domain family 1, member A (CLEC1A), mRNA.	174	C-type lectin.				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane|intracellular	sugar binding|transmembrane receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	23						TTGTTTATCTTCAGCATGGTA	0.378000														66			33		0	0	1	0	0
RHOT2	89941	broad.mit.edu	37	16	721185	721185	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:721185C>T	uc002cip.3	+	10	968	c.851C>T	c.(850-852)gCg>gTg	p.A284V	RHOT2_uc002ciq.3_Missense_Mutation_p.A177V|RHOT2_uc010bqy.3_Missense_Mutation_p.A63V	NM_138769	NP_620124	Q8IXI1	MIRO2_HUMAN	Homo sapiens ras homolog gene family, member T2 (RHOT2), nuclear gene encoding mitochondrial protein, mRNA.	284					apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	GTP binding|GTPase activity|calcium ion binding|protein binding			endometrium(2)|kidney(3)|lung(4)|ovary(1)|pancreas(2)|prostate(1)	13		Hepatocellular(780;0.0218)				GAGCTGACTGCGGACTATCTC	0.637000														35			37		0	0	1	0	0
TTC21B	79809	broad.mit.edu	37	2	166747469	166747469	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:166747469C>T	uc002udk.3	-	22	3113	c.2980G>A	c.(2980-2982)Gat>Aat	p.D994N	TTC21B_uc002udj.2_Non-coding_Transcript	NM_024753	NP_079029	Q7Z4L5	TT21B_HUMAN	Homo sapiens tetratricopeptide repeat domain 21B (TTC21B), mRNA.	994						cilium axoneme|cytoplasm|cytoskeleton	binding			breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						CTTAGGAGATCAATCAAACGA	0.338000														34			23		0	0	1	0	0
TMEM145	284339	broad.mit.edu	37	19	42827796	42827796	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:42827796T>C	uc002otk.1	+	13	1308	c.1256T>C	c.(1255-1257)aTc>aCc	p.I419T	MEGF8_uc002otl.4_5'Flank	NM_173633	NP_775904	Q8NBT3	TM145_HUMAN	Homo sapiens transmembrane protein 145 (TMEM145), mRNA.	419						integral to membrane				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	27		Prostate(69;0.00682)				ACGTCGCAGATCGCTTCAGCC	0.627000														35			6		0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170012830	170012830	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:170012830G>T	uc002ues.3	-	64	12318	c.12105C>A	c.(12103-12105)ggC>ggA	p.G4035G		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	4035	EGF-like 15; calcium-binding (Potential).				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TAGACGTGAAGCCATCAGCAC	0.428000														77			8		0.00448238	0.0046769	1	1	0
OR52B2	255725	broad.mit.edu	37	11	6190908	6190908	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6190908C>T	uc010qzy.2	-	0	649	c.649G>A	c.(649-651)Gct>Act	p.A217T		NM_001004052	NP_001004052	Q96RD2	O52B2_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily B, member 2 (OR52B2), mRNA.	217					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I216I(1)		NS(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(15)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TAAGACACAGCGATGAGGATA	0.512000														22			20		0	0	1	0	0
RGNEF	64283	broad.mit.edu	37	5	73161801	73161801	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:73161801G>A	uc010izf.3	+	17	2291	c.2115G>A	c.(2113-2115)gaG>gaA	p.E705E	RGNEF_uc011csq.2_Silent_p.E705E|RGNEF_uc021yam.1_Silent_p.E705E|RGNEF_uc011csr.2_Silent_p.E392E	NM_001080479	NP_001073948	Q8N1W1	RGNEF_HUMAN	Homo sapiens 190 kDa guanine nucleotide exchange factor (RGNEF), transcript variant 1, mRNA.	705					cell differentiation|intracellular signal transduction|regulation of Rho protein signal transduction	cytoplasm|plasma membrane	RNA binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding						Lung NSC(167;0.0378)|all_lung(232;0.04)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.25e-51)		AATTCCAAGAGAAATATAACA	0.284000														10			11		0	0	1	0	0
ETV6	2120	broad.mit.edu	37	12	12038938	12038938	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:12038938C>T	uc001qzz.3	+	6	1505	c.1231C>T	c.(1231-1233)Cca>Tca	p.P411S	ETV6_uc001raa.1_Intron	NM_001987	NP_001978	P41212	ETV6_HUMAN	Homo sapiens ets variant 6 (ETV6), mRNA.	411						cytoplasm|nucleolus	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238)	breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)				CAGGAAGGAGCCAGGACAAAG	0.448000			T	"""NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5"""	"""congenital fibrosarcoma, multiple leukemia and lymphoma,  secretory breast, MDS, ALL"""									76			48		0	0	1	0	0
BAIAP2	10458	broad.mit.edu	37	17	79080582	79080582	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:79080582C>A	uc002jzg.2	+	11	1483	c.1375C>A	c.(1375-1377)Ctg>Atg	p.L459M	BAIAP2_uc002jyz.4_Missense_Mutation_p.L459M|BAIAP2_uc002jza.2_Missense_Mutation_p.L459M|BAIAP2_uc002jzc.2_Missense_Mutation_p.L460M|BAIAP2_uc002jzb.2_Missense_Mutation_p.L216M|BAIAP2_uc010wuh.1_Missense_Mutation_p.L381M|BAIAP2_uc002jzd.2_Missense_Mutation_p.L459M|BAIAP2_uc002jzf.2_Missense_Mutation_p.L459M|BAIAP2_uc002jze.2_Missense_Mutation_p.L492M|BAIAP2_uc002jzh.2_Missense_Mutation_p.L460M|BAIAP2_uc010wui.2_Missense_Mutation_p.L322M	NM_017451	NP_059345	Q9UQB8	BAIP2_HUMAN	Homo sapiens BAI1-associated protein 2 (BAIAP2), transcript variant 2, mRNA.	459					axonogenesis|filopodium assembly|insulin receptor signaling pathway|regulation of actin cytoskeleton organization|response to bacterium	cell junction|cytoskeleton|cytosol|filopodium|nucleus|ruffle	SH3 domain binding|cytoskeletal adaptor activity|proline-rich region binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)	18	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			GGGCAACCTCCTGGACAAGGA	0.692000														26			8		1.76689e-08	2.07166e-08	1	1	0
GLB1L2	89944	broad.mit.edu	37	11	134239705	134239705	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:134239705A>C	uc001qhp.3	+	10	1222	c.1034A>C	c.(1033-1035)gAt>gCt	p.D345A	GLB1L2_uc009zdg.1_Non-coding_Transcript	NM_138342	NP_612351	Q8IW92	GLBL2_HUMAN	Homo sapiens galactosidase, beta 1-like 2 (GLB1L2), mRNA.	345					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	p.D345N(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)		GCAGACTATGATGCTGTGCTG	0.552000														118			12		0	0	1	0	0
LAMA5	3911	broad.mit.edu	37	20	60909037	60909037	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:60909037C>T	uc002ycq.3	-	22	2865	c.2798G>A	c.(2797-2799)cGa>cAa	p.R933Q	LAMA5_uc021wfw.1_Missense_Mutation_p.R933Q|MIR4758_uc021wfx.1_5'Flank	NM_005560	NP_005551	O15230	LAMA5_HUMAN	Homo sapiens laminin, alpha 5 (LAMA5), mRNA.	933	Domain IV 1 (domain IV B).				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)	GTTGACGTATCGGAAGACGAG	0.667000														12			7		0	0	1	0	0
NPBWR1	2831	broad.mit.edu	37	8	53853034	53853034	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:53853034G>A	uc011ldu.2	+	0	567	c.567G>A	c.(565-567)gtG>gtA	p.V189V		NM_005285	NP_005276	P48145	NPBW1_HUMAN	Homo sapiens neuropeptides B/W receptor 1 (NPBWR1), mRNA.	189					synaptic transmission	plasma membrane	opioid receptor activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)	17		Lung NSC(129;0.0222)|all_epithelial(80;0.0301)|all_lung(136;0.0431)				GCCAGTGCGTGCTAGTCTTTC	0.687000														3			3		0	0	1	0	0
ACACA	31	broad.mit.edu	37	17	35600310	35600310	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:35600310G>A	uc002hnm.3	-	21	2988	c.2797C>T	c.(2797-2799)Ctc>Ttc	p.L933F	ACACA_uc002hnk.3_Missense_Mutation_p.L855F|ACACA_uc002hnl.3_Missense_Mutation_p.L875F|ACACA_uc002hnn.3_Missense_Mutation_p.L933F|ACACA_uc002hno.3_Missense_Mutation_p.L970F|ACACA_uc010cuz.3_Missense_Mutation_p.L933F	NM_198836	NP_942135	Q13085	ACACA_HUMAN	Homo sapiens acetyl-CoA carboxylase alpha (ACACA), transcript variant 3, mRNA.	933					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	ATP binding|acetyl-CoA carboxylase activity|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	AACTGACAGAGGACTGATGTG	0.433000														73			45		0	0	1	0	0
GALNT14	79623	broad.mit.edu	37	2	31133788	31133788	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:31133788G>A	uc002rns.3	-	15	2293	c.1653C>T	c.(1651-1653)caC>caT	p.H551H	GALNT14_uc002rnq.3_Silent_p.H526H|GALNT14_uc010ymr.2_Silent_p.H511H|GALNT14_uc002rnr.3_Silent_p.H546H	NM_001253826	NP_001240755	Q96FL9	GLT14_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14) (GALNT14), transcript variant 2, mRNA.	546						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					CCATGTCCCAGTGCTGGCTCA	0.572000														38			20		0	0	1	0	0
DOK3	79930	broad.mit.edu	37	5	176931113	176931113	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:176931113C>T	uc003mhk.3	-	5	1367	c.1362G>A	c.(1360-1362)cgG>cgA	p.R454R	DOK3_uc003mhh.4_Intron|DOK3_uc003mhi.4_Intron|DOK3_uc003mhj.4_Intron	NM_024872	NP_079148	Q7L591	DOK3_HUMAN	Homo sapiens docking protein 3 (DOK3), transcript variant 1, mRNA.	454	Pro-rich.					cytoplasm|plasma membrane	insulin receptor binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|lung(7)	13	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			CCAGCAGCCGCCGGTACTGGG	0.677000														10			3		0	0	1	0	0
ITGB6	3694	broad.mit.edu	37	2	160993949	160993949	+	Silent	SNP	G	A	A	rs139038668		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:160993949G>A	uc002ubh.2	-	9	1671	c.1656C>T	c.(1654-1656)tgC>tgT	p.C552C	ITGB6_uc010fou.2_Silent_p.C552C|ITGB6_uc010zcq.1_Silent_p.C510C|ITGB6_uc010fov.1_Silent_p.C552C	NM_000888	NP_000879	P18564	ITB6_HUMAN	Homo sapiens integrin, beta 6 (ITGB6), mRNA.	552	Cysteine-rich tandem repeats.				cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						GCCTACCTCCGCAGAGCAGCC	0.517000														35			26		0	0	1	0	0
GMIP	51291	broad.mit.edu	37	19	19741109	19741109	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:19741109G>A	uc002nnd.3	-	20	2693	c.2576C>T	c.(2575-2577)aCa>aTa	p.T859I	LPAR2_uc002nnb.4_5'Flank|LPAR2_uc002nna.4_5'Flank|LPAR2_uc002nnc.4_5'Flank|GMIP_uc010xrb.2_Missense_Mutation_p.T833I|GMIP_uc010xrc.2_Missense_Mutation_p.T830I	NM_016573	NP_057657	Q9P107	GMIP_HUMAN	Homo sapiens GEM interacting protein (GMIP), mRNA.	859					negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity|metal ion binding|protein binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						ACGAGACTGTGTCCCCAGGAG	0.627000														29			17		0	0	1	0	0
DHRS3	9249	broad.mit.edu	37	1	12638855	12638855	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:12638855C>T	uc001auc.3	-	3	1056	c.589G>A	c.(589-591)Gcc>Acc	p.A197T	DHRS3_uc001aub.3_Missense_Mutation_p.A112T	NM_004753	NP_004744	O75911	DHRS3_HUMAN	Homo sapiens dehydrogenase/reductase (SDR family) member 3 (DHRS3), mRNA.	197					retinol metabolic process|visual perception	integral to membrane	NADP-retinol dehydrogenase activity|electron carrier activity|nucleotide binding			cervix(1)|large_intestine(4)|lung(2)|prostate(1)|skin(1)	9	Ovarian(185;0.249)	Lung NSC(185;4.11e-05)|all_lung(284;4.58e-05)|Renal(390;0.000147)|Colorectal(325;0.000585)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|Colorectal(212;9.25e-07)|COAD - Colon adenocarcinoma(227;0.000326)|BRCA - Breast invasive adenocarcinoma(304;0.000344)|Kidney(185;0.00235)|KIRC - Kidney renal clear cell carcinoma(229;0.00656)|STAD - Stomach adenocarcinoma(313;0.00798)|READ - Rectum adenocarcinoma(331;0.0419)	Vitamin A(DB00162)	TCCATGAAGGCGAAGGCTGAC	0.622000														7			12		0	0	1	0	0
ZNF175	7728	broad.mit.edu	37	19	52091537	52091537	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:52091537G>A	uc002pxb.3	+	4	2331	c.1953G>A	c.(1951-1953)tcG>tcA	p.S651S	AX748312_uc002pxc.1_5'Flank	NM_007147	NP_009078	Q9Y473	ZN175_HUMAN	Homo sapiens zinc finger protein 175 (ZNF175), mRNA.	651					response to virus	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)		GTGGGAAATCGTTCAGTAAGA	0.438000														50			29		0	0	1	0	0
LDB2	9079	broad.mit.edu	37	4	16504355	16504355	+	Missense_Mutation	SNP	C	T	T	rs138614817		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:16504355C>T	uc003goz.3	-	7	1349	c.1033G>A	c.(1033-1035)Gcg>Acg	p.A345T	LDB2_uc003gpa.3_3'UTR|LDB2_uc011bxh.2_Missense_Mutation_p.A317T|LDB2_uc003gpb.3_Missense_Mutation_p.A343T|LDB2_uc010iee.3_3'UTR|LDB2_uc011bxi.2_3'UTR	NM_001290	NP_001281	O43679	LDB2_HUMAN	Homo sapiens LIM domain binding 2 (LDB2), transcript variant 1, mRNA.	345							LIM domain binding|transcription cofactor activity	p.P344P(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1)	33						TTCCCCAGCGCGGGTGAATTG	0.532000														173			16		0	0	1	0	0
TTLL12	23170	broad.mit.edu	37	22	43576899	43576899	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:43576899C>T	uc003bdq.3	-	2	457	c.395G>A	c.(394-396)cGc>cAc	p.R132H		NM_015140	NP_055955	Q14166	TTL12_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 12 (TTLL12), mRNA.	132					protein modification process		tubulin-tyrosine ligase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	13		Ovarian(80;0.221)|Glioma(61;0.222)				CAGCTGCTGGCGCGCGTGCTC	0.667000														34			26		0	0	1	0	0
NSUN5	55695	broad.mit.edu	37	7	72717608	72717608	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:72717608G>A	uc003txw.3	-	8	1352	c.1275C>T	c.(1273-1275)gtC>gtT	p.V425V	FKBP6_uc003twz.2_Intron|NSUN5_uc011kev.2_Silent_p.V425V|NSUN5_uc003txv.3_Silent_p.V425V|NSUN5_uc003txx.3_Silent_p.V387V	NM_018044	NP_060514	Q96P11	NSUN5_HUMAN	Homo sapiens NOP2/Sun domain family, member 5 (NSUN5), transcript variant 2, mRNA.	425							methyltransferase activity			breast(1)|endometrium(3)|large_intestine(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8		Lung NSC(55;0.163)				TTGGCACCTCGACCCGTTCAA	0.612000														27			26		0	0	1	0	0
CBX2	84733	broad.mit.edu	37	17	77758262	77758262	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:77758262C>T	uc002jxc.3	+	4	1078	c.1020C>T	c.(1018-1020)tgC>tgT	p.C340C		NM_005189	NP_005180	Q14781	CBX2_HUMAN	Homo sapiens chromobox homolog 2 (CBX2), transcript variant 1, mRNA.	340					cell differentiation|chromatin modification|development of primary sexual characteristics|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex	DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			CTGCTGGGTGCCCAGGCCCCC	0.682000														12			5		0	0	1	0	0
NOC3L	64318	broad.mit.edu	37	10	96109022	96109022	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:96109022G>A	uc001kjq.1	-	9	1330	c.1242C>T	c.(1240-1242)taC>taT	p.Y414Y	NOC3L_uc009xuk.1_Silent_p.Y199Y	NM_022451	NP_071896	Q8WTT2	NOC3L_HUMAN	Homo sapiens nucleolar complex associated 3 homolog (S. cerevisiae) (NOC3L), mRNA.	414						nuclear speck|nucleolus	binding			endometrium(3)|large_intestine(17)|lung(5)|ovary(1)|skin(2)|stomach(1)	29		Colorectal(252;0.0897)				GCCTAACTTCGTAATTTCTGC	0.323000														40			25		0	0	1	0	0
MSH4	4438	broad.mit.edu	37	1	76280818	76280818	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:76280818C>T	uc001dhd.2	+	4	927	c.812C>T	c.(811-813)tCc>tTc	p.S271F		NM_002440	NP_002431	O15457	MSH4_HUMAN	Homo sapiens mutS homolog 4 (E. coli) (MSH4), mRNA.	271					chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						GAGGTTCAGTCCAAGTAAGtt	0.313000								Mismatch excision repair (MMR)						61			11		0	0	1	0	0
CPZ	8532	broad.mit.edu	37	4	8607726	8607726	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:8607726G>T	uc003glm.3	+	4	894	c.720G>T	c.(718-720)gaG>gaT	p.E240D	CPZ_uc003gll.3_Non-coding_Transcript|CPZ_uc003glo.3_Missense_Mutation_p.E229D|CPZ_uc003gln.3_Missense_Mutation_p.E103D	NM_001014447	NP_001014448	Q66K79	CBPZ_HUMAN	Homo sapiens carboxypeptidase Z (CPZ), transcript variant 1, mRNA.	240					Wnt receptor signaling pathway|proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding	p.E240D(2)|p.P239P(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TGGAGCCCGAGGTGAAGCTCA	0.587000														51			5		0.014758	0.0151755	1	1	0
C11orf46	120534	broad.mit.edu	37	11	30354443	30354443	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:30354443C>T	uc001mso.1	+	2	621	c.457C>T	c.(457-459)Caa>Taa	p.Q153*		NM_152316	NP_689529	Q8N8R7	CK046_HUMAN	Homo sapiens chromosome 11 open reading frame 46 (C11orf46), mRNA.	153										cervix(1)|endometrium(1)|kidney(2)|lung(7)	11						GAGGTCATTACAATTTACGAA	0.353000														60			5		0	0	1	0	0
ARSH	347527	broad.mit.edu	37	X	2951115	2951115	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:2951115G>T	uc011mhj.2	+	8	1378	c.1378G>T	c.(1378-1380)Ggt>Tgt	p.G460C		NM_001011719	NP_001011719	Q5FYA8	ARSH_HUMAN	Homo sapiens arylsulfatase family, member H (ARSH), mRNA.	460						integral to membrane	arylsulfatase activity|metal ion binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1)	34		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				TGAAGGAACAGGTGCCTGCTA	0.453000														104			10		6.40141e-05	6.99953e-05	1	1	0
RECQL4	9401	broad.mit.edu	37	8	145741146	145741146	+	Splice_Site	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:145741146A>G	uc003zdj.3	-	6	1300	c.1258_splice	c.e6+1	p.A420_splice	LRRC14_uc003zdk.2_5'Flank|LRRC14_uc003zdl.2_5'Flank|DQ579335_uc022bcp.1_5'Flank	NM_004260	NP_004251	O94761	RECQ4_HUMAN	Homo sapiens RecQ protein-like 4 (RECQL4), mRNA.	420					DNA duplex unwinding|DNA recombination|DNA repair	cytoplasm|nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|DNA strand annealing activity|bubble DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			CAGATGTCTCACCTGGCCGGG	0.592000			"""N, F, S"""			"""osteosarcoma, skin basal and sqamous cell"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Rothmund-Thomson syndrome;RAPADILINO syndrome;Baller-Gerold syndrome					9			7		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179453593	179453593	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179453593T>C	uc021vsy.1	-	252	55380	c.55155A>G	c.(55153-55155)aaA>aaG	p.K18385K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.K12080K|TTN_uc021vta.1_Silent_p.K12013K|TTN_uc021vtb.1_Silent_p.K11888K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	19312	Fibronectin type-III 33.						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)			CTATGACTGGTTTACTTTCTG	0.428000														42			14		0	0	1	0	0
RBM42	79171	broad.mit.edu	37	19	36128403	36128403	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:36128403C>A	uc002oan.3	+	9	1466	c.1390C>A	c.(1390-1392)Ctg>Atg	p.L464M	RBM42_uc002oap.3_Missense_Mutation_p.L434M|RBM42_uc002oaq.3_Missense_Mutation_p.L435M	NM_024321	NP_077297	Q9BTD8	RBM42_HUMAN	Homo sapiens RNA binding motif protein 42 (RBM42), mRNA.	464	Necessary for interaction with HNRNPK (By similarity).					cytoplasm|nucleus	RNA binding|nucleotide binding			breast(1)|endometrium(3)|large_intestine(7)|lung(9)|prostate(1)	21	all_lung(56;1.58e-07)|Lung NSC(56;2.43e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			GGACCGGAATCTGGACGTGGT	0.617000														25			15		3.27435e-08	3.82583e-08	1	1	0
PNPLA1	285848	broad.mit.edu	37	6	36270205	36270205	+	Missense_Mutation	SNP	C	A	A	rs141744967	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:36270205C>A	uc010jwf.2	+	5	1343	c.1343C>A	c.(1342-1344)gCt>gAt	p.A448D	PNPLA1_uc010jwe.1_Missense_Mutation_p.A362D|PNPLA1_uc003olw.1_Missense_Mutation_p.A353D	NM_001145717	NP_775947	Q8N8W4	PLPL1_HUMAN	Homo sapiens patatin-like phospholipase domain containing 1 (PNPLA1), transcript variant 3, mRNA.	448	Pro-rich.				lipid catabolic process		hydrolase activity			breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	22						GCCTTCCCTGCTCAGCCACCT	0.582000											OREG0017382	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		68			60		5.62145e-24	7.33386e-24	1	1	0
MED18	54797	broad.mit.edu	37	1	28660946	28660946	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:28660946G>T	uc021okc.1	+	2	358	c.113G>T	c.(112-114)aGt>aTt	p.S38I	MED18_uc001bpt.4_Missense_Mutation_p.S31I|MED18_uc009vtg.3_Missense_Mutation_p.S31I	NM_017638	NP_060108	Q9BUE0	MED18_HUMAN	Homo sapiens mediator complex subunit 18 (MED18), transcript variant 1, mRNA.	31					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex	identical protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7		Colorectal(325;0.000147)|Lung NSC(340;0.000818)|all_lung(284;0.000996)|Renal(390;0.00357)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0557)|Ovarian(437;0.113)		OV - Ovarian serous cystadenocarcinoma(117;2.36e-22)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0141)|READ - Rectum adenocarcinoma(331;0.0649)		TTAGATCACAGTTTGGAAAGC	0.418000														164			17		1.33834e-09	1.59673e-09	1	1	0
RNF31	55072	broad.mit.edu	37	14	24626551	24626551	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:24626551G>T	uc001wmn.1	+	14	2795	c.2546G>T	c.(2545-2547)cGc>cTc	p.R849L	RNF31_uc001wml.1_Missense_Mutation_p.R698L|RNF31_uc010alg.1_Missense_Mutation_p.R608L|RNF31_uc001wmo.1_Missense_Mutation_p.R316L|RNF31_uc001wmp.3_Non-coding_Transcript|RNF31_uc010alh.1_Missense_Mutation_p.R33L	NM_017999	NP_060469	Q96EP0	RNF31_HUMAN	Homo sapiens ring finger protein 31 (RNF31), mRNA.	849					CD40 signaling pathway|T cell receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination	CD40 receptor complex|LUBAC complex|internal side of plasma membrane	ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39				GBM - Glioblastoma multiforme(265;0.00861)		AACTGGAAACGCATGAACGAC	0.562000														28			9		0.00448238	0.0046769	1	1	0
DNAH11	8701	broad.mit.edu	37	7	21730484	21730484	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:21730484T>C	uc003svc.3	+	35	6078	c.6047T>C	c.(6046-6048)cTc>cCc	p.L2016P		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	2016	AAA 1 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CCGGAAAATCTCAAAGCTCTT	0.418000									Kartagener syndrome					136			46		0	0	1	0	0
SNX4	8723	broad.mit.edu	37	3	125208288	125208288	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:125208288G>A	uc003eib.3	-	5	659	c.617C>T	c.(616-618)gCg>gTg	p.A206V	SNX4_uc011bkf.2_Missense_Mutation_p.A61V	NM_003794	NP_003785	O95219	SNX4_HUMAN	Homo sapiens sorting nexin 4 (SNX4), mRNA.	206					cell communication|endocytic recycling|endocytosis|protein transport	cytoplasmic dynein complex|early endosome membrane	phosphatidylinositol binding|protein binding			breast(2)|central_nervous_system(1)|lung(6)|ovary(1)|skin(1)	11						TGCATTAAGCGCTTTTAACCT	0.294000														28			18		0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10465534	10465534	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:10465534G>A	uc003wtc.3	-	3	6303	c.6074C>T	c.(6073-6075)gCc>gTc	p.A2025V		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	2025					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CTTTGGCTGGGCCTCTACACC	0.612000														125			89		0	0	1	0	0
DENND4B	9909	broad.mit.edu	37	1	153909042	153909042	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:153909042G>A	uc001fdd.1	-	15	2816	c.2415C>T	c.(2413-2415)agC>agT	p.S805S		NM_014856	NP_055671	O75064	DEN4B_HUMAN	Homo sapiens DENN/MADD domain containing 4B (DENND4B), mRNA.	805										NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CCACCTTGCCGCTCTCCATCT	0.607000														9			8		0	0	1	0	0
DKK1	22943	broad.mit.edu	37	10	54076370	54076370	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:54076370G>A	uc001jjr.3	+	3	758	c.604G>A	c.(604-606)Gct>Act	p.A202T	LOC100506939_uc009xox.2_5'Flank	NM_012242	NP_036374	O94907	DKK1_HUMAN	Homo sapiens dickkopf 1 homolog (Xenopus laevis) (DKK1), mRNA.	202	DKK-type Cys-2.				negative regulation of peptidyl-serine phosphorylation|negative regulation of protein complex assembly|negative regulation of transcription from RNA polymerase II promoter|positive regulation of heart induction by negative regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization	extracellular space|plasma membrane	growth factor activity|low-density lipoprotein particle receptor binding|receptor antagonist activity|signal transducer activity			kidney(2)|large_intestine(4)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	16						ATTGTGTTGTGCTAGACACTT	0.433000														83			41		0	0	1	0	0
ACVRL1	94	broad.mit.edu	37	12	52307480	52307480	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:52307480C>T	uc001rzj.3	+	3	734	c.451C>T	c.(451-453)Cgt>Tgt	p.R151C	ACVRL1_uc001rzk.3_Missense_Mutation_p.R151C|ACVRL1_uc010snm.2_Intron	NM_000020	NP_001070869	P37023	ACVL1_HUMAN	Homo sapiens activin A receptor type II-like 1 (ACVRL1), transcript variant 1, mRNA.	151					blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of DNA replication|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells	cell surface|integral to plasma membrane	ATP binding|SMAD binding|activin binding|activin receptor activity, type I|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta binding|transforming growth factor beta receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(357;0.0991)	Adenosine triphosphate(DB00171)	GGAGAAGCAGCGTGGCCTGCA	0.667000														12			11		0	0	1	0	0
ACSM1	116285	broad.mit.edu	37	16	20702396	20702396	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:20702396T>C	uc002dhm.1	-	0	183	c.115A>G	c.(115-117)Aga>Gga	p.R39G	ACSM1_uc002dhn.1_Non-coding_Transcript|ACSM1_uc010bwg.1_Missense_Mutation_p.R39G	NM_052956	NP_443188	Q08AH1	ACSM1_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 1 (ACSM1), mRNA.	39					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	ATP binding|GTP binding|acyl-CoA ligase activity|butyrate-CoA ligase activity|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						TCATTCCATCTTGGGGCTCCA	0.512000														182			15		0	0	1	0	0
TPR	7175	broad.mit.edu	37	1	186332042	186332042	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:186332042A>C	uc001grv.3	-	5	920	c.623T>G	c.(622-624)cTt>cGt	p.L208R	MIR548F1_uc021pgf.1_Intron|TPR_uc010pop.2_Missense_Mutation_p.L284R	NM_003292	NP_003283	P12270	TPR_HUMAN	Homo sapiens translocated promoter region (to activated MET oncogene) (TPR), mRNA.	208					carbohydrate metabolic process|glucose transport|mRNA transport|mitotic cell cycle spindle assembly checkpoint|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		AAGAGCCAGAAGTTCATCAGT	0.328000			T	NTRK1	papillary thyroid									24			24		0	0	1	0	0
RERGL	79785	broad.mit.edu	37	12	18234205	18234205	+	Nonsense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:18234205C>A	uc001rdq.3	-	5	732	c.538G>T	c.(538-540)Gaa>Taa	p.E180*		NM_024730	NP_079006	Q9H628	RERGL_HUMAN	Homo sapiens RERG/RAS-like (RERGL), mRNA.	180	Small GTPase-like.				signal transduction	membrane	GTP binding|GTPase activity			endometrium(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	17						CGTCTCTTTTCTTTGAGTTTG	0.393000														41			16		3.41278e-10	4.10877e-10	1	1	0
MCOLN2	255231	broad.mit.edu	37	1	85405352	85405352	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:85405352G>A	uc001dkm.3	-	8	1235	c.994C>T	c.(994-996)Cgg>Tgg	p.R332W	MCOLN2_uc001dkn.3_Intron	NM_153259	NP_694991	Q8IZK6	MCLN2_HUMAN	Homo sapiens mucolipin 2 (MCOLN2), mRNA.	332						integral to membrane	ion channel activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	18				all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217)		CACACAGGCCGCTTGTACTTC	0.438000														71			28		0	0	1	0	0
TPD52L1	7164	broad.mit.edu	37	6	125584090	125584090	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:125584090G>A	uc003pzu.1	+	6	816	c.597G>A	c.(595-597)gaG>gaA	p.E199E	TPD52L1_uc003pzv.1_3'UTR|TPD52L1_uc003pzw.1_3'UTR|TPD52L1_uc003pzy.1_Silent_p.E170E|TPD52L1_uc003pzz.1_3'UTR	NM_003287	NP_001003395	Q16890	TPD53_HUMAN	Homo sapiens tumor protein D52-like 1 (TPD52L1), transcript variant 1, mRNA.	199					DNA fragmentation involved in apoptotic nuclear change|G2/M transition of mitotic cell cycle|induction of apoptosis|positive regulation of JNK cascade|positive regulation of MAP kinase activity	perinuclear region of cytoplasm	caspase activator activity|protein heterodimerization activity|protein homodimerization activity			endometrium(2)|large_intestine(2)|prostate(1)	5			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0265)		GGACCAAGGAGGAGGAGCTGC	0.607000														14			7		0	0	1	0	0
TMEM181	57583	broad.mit.edu	37	6	159010761	159010761	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:159010761G>T	uc003qrm.4	+	5	861	c.850G>T	c.(850-852)Gtg>Ttg	p.V284L	TMEM181_uc010kjr.1_Missense_Mutation_p.V115L|TMEM181_uc003qri.1_Missense_Mutation_p.V149L|TMEM181_uc003qrj.1_Missense_Mutation_p.V141L|TMEM181_uc003qrk.1_Missense_Mutation_p.V165L	NM_020823	NP_065874	Q9P2C4	TM181_HUMAN	Homo sapiens transmembrane protein 181 (TMEM181), mRNA.	284					pathogenesis	integral to membrane	toxin binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)	22		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;8.15e-18)|BRCA - Breast invasive adenocarcinoma(81;1.38e-05)		TCAGTATACAGTGATAGTGGG	0.433000														35			5		3.59834e-05	3.95114e-05	1	1	0
OSBPL11	114885	broad.mit.edu	37	3	125295110	125295110	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:125295110T>C	uc003eic.3	-	4	1326	c.589A>G	c.(589-591)Aat>Gat	p.N197D		NM_022776	NP_073613	Q9BXB4	OSB11_HUMAN	Homo sapiens oxysterol binding protein-like 11 (OSBPL11), mRNA.	197					lipid transport		lipid binding			NS(1)|breast(1)|cervix(1)|kidney(2)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	27						TGTCCAACATTAAAAAAAGAA	0.383000														81			6		0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114120208	114120208	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:114120208A>G	uc003ibe.4	+	3	427	c.327A>G	c.(325-327)caA>caG	p.Q109Q	ANK2_uc003ibd.4_Silent_p.Q88Q|ANK2_uc003ibf.4_Silent_p.Q109Q|ANK2_uc003ibc.2_Silent_p.Q85Q|ANK2_uc011cgb.1_Silent_p.Q124Q	NM_001148	NP_001139	Q01484	ANK2_HUMAN	Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.	109					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TGGCTGGACAAGCAGAAGTTG	0.353000														43			22		0	0	1	0	0
AGFG1	3267	broad.mit.edu	37	2	228399560	228399560	+	Splice_Site	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:228399560G>T	uc002vpc.2	+	8	1275	c.1025_splice	c.e8-1	p.G342_splice	AGFG1_uc002vpd.2_Splice_Site_p.G366_splice|AGFG1_uc002vpe.2_Splice_Site_p.G342_splice|AGFG1_uc002vpf.2_Splice_Site_p.G302_splice	NM_004504	NP_004495	P52594	AGFG1_HUMAN	Homo sapiens ArfGAP with FG repeats 1 (AGFG1), transcript variant 2, mRNA.	342					cell differentiation|mRNA export from nucleus|multicellular organismal development|regulation of ARF GTPase activity|spermatogenesis	Golgi apparatus|cytoplasmic membrane-bounded vesicle|nuclear pore	ARF GTPase activator activity|DNA binding|RNA binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(2)|ovary(1)|prostate(1)|skin(4)|stomach(1)	18						TTCGTTCCCAGGTGGTGATCA	0.408000														53			10		3.86212e-05	4.23294e-05	1	1	0
KIAA1377	57562	broad.mit.edu	37	11	101834143	101834143	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:101834143G>A	uc001pgm.3	+	5	2647	c.2377G>A	c.(2377-2379)Gct>Act	p.A793T	KIAA1377_uc001pgn.3_Missense_Mutation_p.A749T|KIAA1377_uc010run.2_Missense_Mutation_p.A594T|KIAA1377_uc009yxa.1_Missense_Mutation_p.A594T	NM_020802	NP_065853	Q9P2H0	K1377_HUMAN	Homo sapiens KIAA1377 (KIAA1377), mRNA.	793							protein binding			breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		ATTTACACAAGCTCAGGGAAA	0.383000														80			6		0	0	1	0	0
KIF22	3835	broad.mit.edu	37	16	29810712	29810712	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:29810712C>A	uc002dts.3	+	5	910	c.887C>A	c.(886-888)gCc>gAc	p.A296D	BOLA2_uc010bzb.1_Intron|KIF22_uc010vdv.1_Missense_Mutation_p.A228D|KIF22_uc010vdw.1_Missense_Mutation_p.A228D	NM_007317	NP_015556	Q14807	KIF22_HUMAN	Homo sapiens kinesin family member 22 (KIF22), transcript variant 1, mRNA.	296	Kinesin-motor.				DNA repair|blood coagulation|microtubule-based movement|mitosis	cytosol|kinetochore|microtubule|nucleus	ATP binding|DNA binding|microtubule motor activity|protein binding			endometrium(1)|large_intestine(1)|lung(11)|skin(1)	14						GAGAGTGGAGCCATCAACACC	0.557000														43			18		1.37522e-17	1.75434e-17	1	1	0
PTPRA	5786	broad.mit.edu	37	20	3002788	3002788	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:3002788C>T	uc010zqd.2	+	13	1600	c.1283C>T	c.(1282-1284)cCg>cTg	p.P428L	PTPRA_uc002whj.3_Missense_Mutation_p.P417L|PTPRA_uc002whk.3_Missense_Mutation_p.P408L|PTPRA_uc002whl.3_Missense_Mutation_p.P408L|PTPRA_uc002whm.3_Missense_Mutation_p.P184L|PTPRA_uc002whn.3_Missense_Mutation_p.P408L|PTPRA_uc002who.3_Missense_Mutation_p.P80L	NM_002836	NP_002827	P18433	PTPRA_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, A (PTPRA), transcript variant 1, mRNA.	417	Tyrosine-protein phosphatase 1.				axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						CCTTTTACCCCGATCGGCATG	0.562000														42			27		0	0	1	0	0
EPHB4	2050	broad.mit.edu	37	7	100410454	100410454	+	Missense_Mutation	SNP	C	T	T	rs55692440		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100410454C>T	uc003uwn.1	-	11	2524	c.2033G>A	c.(2032-2034)cGc>cAc	p.R678H	EPHB4_uc003uwm.1_Missense_Mutation_p.R585H|EPHB4_uc010lhj.1_Missense_Mutation_p.R678H	NM_004444	NP_004435	P54760	EPHB4_HUMAN	Homo sapiens EPH receptor B4 (EPHB4), mRNA.	678	Protein kinase.		R -> H (in dbSNP:rs55692440).		cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					GCCCTCCAGGCGGATGATATT	0.612000														72			31		0	0	1	0	0
PLEKHA7	144100	broad.mit.edu	37	11	16837804	16837804	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:16837804G>A	uc010rcu.1	-	11	1889	c.1874C>T	c.(1873-1875)tCt>tTt	p.S625F	PLEKHA7_uc001mmo.3_Missense_Mutation_p.S625F|PLEKHA7_uc010rcv.2_Missense_Mutation_p.S199F|PLEKHA7_uc001mmn.3_Missense_Mutation_p.S333F	NM_175058	NP_778228	Q6IQ23	PKHA7_HUMAN	Homo sapiens pleckstrin homology domain containing, family A member 7 (PLEKHA7), mRNA.	625	Interaction with CTNND1.				epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						GTCCACATGAGATGAGTTCTG	0.567000														19			9		0	0	1	0	0
USP35	57558	broad.mit.edu	37	11	77919936	77919936	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:77919936G>A	uc021qny.1	+	8	1875	c.1519G>A	c.(1519-1521)Gca>Aca	p.A507T	USP35_uc001oze.2_Missense_Mutation_p.A263T|USP35_uc001ozc.3_Missense_Mutation_p.A75T|USP35_uc010rsp.2_Intron|USP35_uc001ozd.3_Missense_Mutation_p.A118T|USP35_uc001ozf.3_Missense_Mutation_p.A238T	NM_020798	NP_065849	Q9P2H5	UBP35_HUMAN	Homo sapiens ubiquitin specific peptidase 35 (USP35), mRNA.	507					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			CTTCCTCTCCGCATCCTGGAC	0.627000														65			45		0	0	1	0	0
ATP2A2	488	broad.mit.edu	37	12	110784072	110784072	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:110784072G>A	uc001tqk.4	+	19	3489	c.2926G>A	c.(2926-2928)Gtg>Atg	p.V976M	ATP2A2_uc001tql.4_Missense_Mutation_p.V976M|ATP2A2_uc021rdt.1_Missense_Mutation_p.V824M|ATP2A2_uc001tqn.4_Missense_Mutation_p.V53M|ATP2A2_uc009zvn.3_Non-coding_Transcript	NM_170665	NP_733765	P16615	AT2A2_HUMAN	Homo sapiens ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 (ATP2A2), transcript variant b, mRNA.	976					ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|S100 alpha binding|calcium-transporting ATPase activity|protein C-terminus binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						CTCCTTGCCCGTGATTCTCAT	0.557000														54			31		0	0	1	0	0
TIAM2	26230	broad.mit.edu	37	6	155532416	155532416	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:155532416G>T	uc003qqb.3	+	16	4416	c.3143G>T	c.(3142-3144)aGg>aTg	p.R1048M	TIAM2_uc003qqe.3_Missense_Mutation_p.R1048M|TIAM2_uc010kjj.3_Missense_Mutation_p.R581M|TIAM2_uc003qqf.3_Missense_Mutation_p.R424M|TIAM2_uc011efl.1_Missense_Mutation_p.R384M|TIAM2_uc003qqg.3_Missense_Mutation_p.R360M	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN	Homo sapiens T-cell lymphoma invasion and metastasis 2 (TIAM2), transcript variant 1, mRNA.	1048					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	Rho guanyl-nucleotide exchange factor activity|receptor signaling protein activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		GTTTCCCACAGGGAGAAAATG	0.473000														21			4		1	1	1	1	0
ZNF770	54989	broad.mit.edu	37	15	35274890	35274890	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:35274890A>G	uc001ziw.3	-	2	1100	c.746T>C	c.(745-747)tTa>tCa	p.L249S	ZNF770_uc021siy.1_Missense_Mutation_p.L249S	NM_014106	NP_054825	Q6IQ21	ZN770_HUMAN	Homo sapiens zinc finger protein 770 (ZNF770), mRNA.	249					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)		CCTCTTCTTTAATAAAAGAGC	0.358000														28			6		0	0	1	0	0
PDE8A	5151	broad.mit.edu	37	15	85681118	85681118	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:85681118G>A	uc002blh.3	+	21	2663	c.2474G>A	c.(2473-2475)cGa>cAa	p.R825Q	PDE8A_uc021stv.1_Missense_Mutation_p.R753Q|PDE8A_uc002bli.3_Missense_Mutation_p.R779Q|PDE8A_uc010bnc.3_Missense_Mutation_p.R578Q|PDE8A_uc010bnd.3_Missense_Mutation_p.R578Q|PDE8A_uc002blj.3_Missense_Mutation_p.R445Q|PDE8A_uc002blk.3_Missense_Mutation_p.R445Q|PDE8A_uc002bll.3_Missense_Mutation_p.R177Q	NM_002605	NP_001230066	O60658	PDE8A_HUMAN	Homo sapiens phosphodiesterase 8A (PDE8A), transcript variant 1, mRNA.	825					cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	25	Colorectal(223;0.227)		BRCA - Breast invasive adenocarcinoma(143;0.0608)			CGGAACCTCCGACCACCTCCT	0.498000														11			9		0	0	1	0	0
FSCN2	25794	broad.mit.edu	37	17	79496251	79496251	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:79496251G>A	uc010wuo.2	+	0	835	c.694G>A	c.(694-696)Gtg>Atg	p.V232M	FSCN2_uc010wup.2_Missense_Mutation_p.V232M	NM_001077182	NP_001070650	O14926	FSCN2_HUMAN	Homo sapiens fascin homolog 2, actin-bundling protein, retinal (Strongylocentrotus purpuratus) (FSCN2), transcript variant 2, mRNA.	232					actin filament bundle assembly|anatomical structure morphogenesis|visual perception	actin cytoskeleton|cytoplasm|stereocilium	actin filament binding|protein binding, bridging			endometrium(1)|lung(1)|prostate(1)|urinary_tract(1)	4	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			CCTGGCACCCGTGGGGCCCGC	0.662000														3			3		0	0	1	0	0
ANKRD13C	81573	broad.mit.edu	37	1	70758150	70758150	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:70758150C>A	uc001dex.4	-	8	1462	c.1136G>T	c.(1135-1137)aGt>aTt	p.S379I	ANKRD13C_uc009wbk.3_Missense_Mutation_p.S344I	NM_030816	NP_110443	Q8N6S4	AN13C_HUMAN	Homo sapiens ankyrin repeat domain 13C (ANKRD13C), mRNA.	379					protein retention in ER lumen|regulation of anoikis|regulation of receptor biosynthetic process	endoplasmic reticulum membrane|perinuclear region of cytoplasm	receptor binding			endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	19						ATCCTCTTCACTGAGATGTTC	0.333000														40			20		4.35082e-09	5.154e-09	1	1	0
CABIN1	23523	broad.mit.edu	37	22	24439447	24439447	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:24439447G>A	uc002zzi.1	+	5	554	c.427G>A	c.(427-429)Gct>Act	p.A143T	CABIN1_uc021wnc.1_Missense_Mutation_p.A143T|CABIN1_uc002zzj.1_Missense_Mutation_p.A143T|CABIN1_uc002zzl.2_Missense_Mutation_p.A143T|CABIN1_uc010guk.1_Missense_Mutation_p.A98T|CABIN1_uc002zzk.2_Missense_Mutation_p.A98T	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN	Homo sapiens calcineurin binding protein 1 (CABIN1), transcript variant 2, mRNA.	143					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						GATCCCCCTGGCTCGCCATGC	0.542000														27			17		0	0	1	0	0
GNAI2	2771	broad.mit.edu	37	3	50294242	50294242	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:50294242C>A	uc003cyq.1	+	5	802	c.681C>A	c.(679-681)gcC>gcA	p.A227A	GNAI2_uc003cyo.1_Silent_p.A211A|GNAI2_uc003cyp.1_Silent_p.A211A|GNAI2_uc010hlg.1_Silent_p.A146A|GNAI2_uc011bdn.2_Silent_p.A190A|GNAI2_uc003cyr.1_Silent_p.A146A	NM_002070	NP_002061	P04899	GNAI2_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2 (GNAI2), transcript variant 1, mRNA.	227					adenosine receptor signaling pathway|cell cycle|cell division|gamma-aminobutyric acid signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|platelet activation|response to nutrient|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|liver(2)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000288)|KIRC - Kidney renal clear cell carcinoma(197;0.00571)|Kidney(197;0.00651)		TCTGCGTAGCCTTGAGCGCCT	0.572000														59			16		2.32078e-09	2.76369e-09	1	1	0
DBF4	10926	broad.mit.edu	37	7	87536622	87536622	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:87536622C>T	uc003ujf.1	+	11	1673	c.1169C>T	c.(1168-1170)aCa>aTa	p.T390I	DBF4_uc003ujh.1_Missense_Mutation_p.T130I|DBF4_uc003ujg.1_Missense_Mutation_p.T166I|DBF4_uc011khf.1_Missense_Mutation_p.T157I	NM_006716	NP_006707	Q9UBU7	DBF4A_HUMAN	Homo sapiens DBF4 homolog (S. cerevisiae) (DBF4), mRNA.	390					DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|cell cycle checkpoint	nucleoplasm	enzyme activator activity|nucleic acid binding|protein binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|skin(3)	28	Esophageal squamous(14;0.00202)	Breast(660;0.0334)				GAAGATGATACAACAGTGAAG	0.403000														143			15		0	0	1	0	0
TRAPPC11	60684	broad.mit.edu	37	4	184614139	184614139	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:184614139C>T	uc003ivx.3	+	19	2278	c.2076C>T	c.(2074-2076)ggC>ggT	p.G692G	TRAPPC11_uc003ivw.3_Silent_p.G692G|TRAPPC11_uc010isc.3_Silent_p.G36G|TRAPPC11_uc003ivy.3_Silent_p.G298G	NM_021942	NP_068761	Q7Z392	CD041_HUMAN	Homo sapiens trafficking protein particle complex 11 (TRAPPC11), transcript variant 1, mRNA.	692																	TTGCTCTGGGCAATGAGACGG	0.448000														60			29		0	0	1	0	0
CFH	3075	broad.mit.edu	37	1	196654269	196654269	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:196654269A>C	uc001gtj.4	+	6	1106	c.866A>C	c.(865-867)gAa>gCa	p.E289A	CFH_uc001gti.4_Missense_Mutation_p.E289A|CFH_uc009wyw.3_Missense_Mutation_p.E289A|CFH_uc009wyx.3_Missense_Mutation_p.E225A	NM_000186	NP_000177	P08603	CFAH_HUMAN	Homo sapiens complement factor H (CFH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	289	Sushi 5.				complement activation, alternative pathway	extracellular space		p.D288A(1)		NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						ACTGGAGATGAAATCACGTAC	0.388000														76			68		0	0	1	0	0
C6orf211	79624	broad.mit.edu	37	6	151779496	151779496	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:151779496C>A	uc003qok.1	+	2	440	c.181C>A	c.(181-183)Ctc>Atc	p.L61I	C6orf211_uc011ees.1_5'UTR	NM_024573	NP_078849	Q9H993	CF211_HUMAN	Homo sapiens chromosome 6 open reading frame 211 (C6orf211), mRNA.	61							protein binding	p.L61I(2)		breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(7)	15			BRCA - Breast invasive adenocarcinoma(37;0.183)	OV - Ovarian serous cystadenocarcinoma(155;5.27e-11)		AGCTATCTCTCTCCTTTCTAA	0.358000														51			37		5.71845e-15	7.1882e-15	1	1	0
SNX17	9784	broad.mit.edu	37	2	27599026	27599026	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:27599026G>T	uc002rkg.1	+	11	1380	c.1158G>T	c.(1156-1158)aaG>aaT	p.K386N	SNX17_uc010ylj.1_Missense_Mutation_p.K366N|SNX17_uc002rki.1_Non-coding_Transcript|SNX17_uc002rkh.1_Missense_Mutation_p.K172N|SNX17_uc010yll.1_Missense_Mutation_p.K172N|SNX17_uc010ylm.1_Missense_Mutation_p.K172N|SNX17_uc010yln.1_Missense_Mutation_p.K374N|SNX17_uc010ylo.1_Missense_Mutation_p.K304N|SNX17_uc010ylp.1_Missense_Mutation_p.K361N|SNX17_uc010ylk.1_Missense_Mutation_p.K172N|SNX17_uc010eza.1_Missense_Mutation_p.K172N|SNX17_uc010ylq.1_Missense_Mutation_p.K172N	NM_014748	NP_055563	Q15036	SNX17_HUMAN	Homo sapiens sorting nexin 17 (SNX17), mRNA.	386					cell communication|endosome transport|intracellular protein transport|regulation of endocytosis|signal transduction	Golgi apparatus|cytoplasmic vesicle membrane|cytosol|early endosome	low-density lipoprotein particle receptor binding|phosphatidylinositol binding|protein C-terminus binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGATGGTGAAGAAATCTGGCG	0.512000														102			11		4.68919e-08	5.46558e-08	1	1	0
PSEN2	5664	broad.mit.edu	37	1	227071420	227071420	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:227071420C>T	uc009xeo.1	+	4	583	c.156C>T	c.(154-156)aaC>aaT	p.N52N	PSEN2_uc009xep.1_Silent_p.N52N|PSEN2_uc001hqk.2_Non-coding_Transcript	NM_000447	NP_000438	P49810	PSN2_HUMAN	Homo sapiens presenilin 2 (Alzheimer disease 4) (PSEN2), transcript variant 1, mRNA.	52					Notch receptor processing|Notch signaling pathway|amyloid precursor protein catabolic process|anti-apoptosis|apoptosis|beta-amyloid metabolic process|calcium ion transport|induction of apoptosis by extracellular signals|intracellular signal transduction|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|positive regulation of catalytic activity	Golgi membrane|Z disc|apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear inner membrane|perinuclear region of cytoplasm	aspartic-type endopeptidase activity|protein binding			cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|urinary_tract(1)	20		Prostate(94;0.0771)				GCCAGGAGAACGAGGAGGACG	0.592000														17			9		0	0	1	0	0
SCARF1	8578	broad.mit.edu	37	17	1538779	1538779	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:1538779G>A	uc002fsz.1	-	10	1816	c.1766C>T	c.(1765-1767)tCg>tTg	p.S589L	SCARF1_uc002fsy.1_3'UTR|SCARF1_uc002fta.1_Non-coding_Transcript|SCARF1_uc010cjv.1_Missense_Mutation_p.S503L	NM_003693	NP_003684	Q14162	SREC_HUMAN	Homo sapiens scavenger receptor class F, member 1 (SCARF1), transcript variant 1, mRNA.	589	Pro/Ser-rich.				cell adhesion|neuron remodeling|positive regulation of axon regeneration|receptor-mediated endocytosis	integral to membrane	low-density lipoprotein particle binding|scavenger receptor activity			cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GAAGGAGACCGATGGCCGCTT	0.682000														80			6		0	0	1	0	0
IP6K1	9807	broad.mit.edu	37	3	49785313	49785313	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49785313C>T	uc021wyl.1	-	1	814	c.161G>A	c.(160-162)cGg>cAg	p.R54Q	IP6K1_uc003cxm.1_Missense_Mutation_p.R54Q|IP6K1_uc003cxn.1_Intron	NM_001242829	NP_001229758	Q92551	IP6K1_HUMAN	Homo sapiens inositol hexakisphosphate kinase 1 (IP6K1), transcript variant 3, mRNA.	54					phosphatidylinositol phosphorylation	cytoplasm|nucleus	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|skin(2)	15						GCGCTGTTCCCGGGAGATGAG	0.557000														42			9		0	0	1	0	0
RARS2	57038	broad.mit.edu	37	6	88251665	88251665	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:88251665G>A	uc003pme.3	-	7	643	c.583C>T	c.(583-585)Cag>Tag	p.Q195*	RARS2_uc003pmc.3_Nonsense_Mutation_p.Q20*|RARS2_uc003pmf.3_Non-coding_Transcript	NM_020320	NP_064716	Q5T160	SYRM_HUMAN	Homo sapiens arginyl-tRNA synthetase 2, mitochondrial (RARS2), nuclear gene encoding mitochondrial protein, mRNA.	195					arginyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|arginine-tRNA ligase activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0456)		GGATTGGACTGCAGTTTTTCC	0.358000														48			19		0	0	1	0	0
REST	5978	broad.mit.edu	37	4	57797968	57797968	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:57797968C>T	uc003hch.3	+	3	3291	c.2944C>T	c.(2944-2946)Cgt>Tgt	p.R982C	REST_uc003hci.3_Missense_Mutation_p.R982C|REST_uc010ihf.3_Missense_Mutation_p.R656C	NM_005612	NP_005603	Q13127	REST_HUMAN	Homo sapiens RE1-silencing transcription factor (REST), transcript variant 1, mRNA.	982					cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|zinc ion binding	p.E981D(1)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					AGTAGAAGAACGTGAAGCAGT	0.448000														23			15		0	0	1	0	0
NPC1	4864	broad.mit.edu	37	18	21116710	21116710	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:21116710C>T	uc002kum.4	-	20	3446	c.3172G>A	c.(3172-3174)Gcc>Acc	p.A1058T	NPC1_uc010xaz.2_Missense_Mutation_p.A791T	NM_000271	NP_000262	O15118	NPC1_HUMAN	Homo sapiens Niemann-Pick disease, type C1 (NPC1), mRNA.	1058					autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					ATAAGTCGGGCTTTCTTCAGA	0.522000														27			11		0	0	1	0	0
SLC10A6	345274	broad.mit.edu	37	4	87769930	87769930	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:87769930G>A	uc003hqd.2	-	0	487	c.339C>T	c.(337-339)aaC>aaT	p.N113N		NM_197965	NP_932069	Q3KNW5	SOAT_HUMAN	Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 6 (SLC10A6), mRNA.	113						integral to membrane|plasma membrane	bile acid:sodium symporter activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	9		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.00099)		AGGTGAAAATGTTAGAGATGG	0.493000														109			9		0	0	1	0	0
ZDHHC13	54503	broad.mit.edu	37	11	19173709	19173709	+	Nonsense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:19173709G>T	uc001mpi.3	+	6	694	c.589G>T	c.(589-591)Gaa>Taa	p.E197*	ZDHHC13_uc001mpj.3_Nonsense_Mutation_p.E67*	NM_019028	NP_001001483	Q8IUH4	ZDH13_HUMAN	Homo sapiens zinc finger, DHHC-type containing 13 (ZDHHC13), transcript variant 1, mRNA.	197					positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi-associated vesicle membrane|integral to membrane	magnesium ion transmembrane transporter activity|palmitoyltransferase activity|signal transducer activity|zinc ion binding			NS(1)|kidney(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6						AGACAGGCCAGAACCAACTGG	0.348000														44			24		1.1804e-14	1.48086e-14	1	1	0
RASA1	5921	broad.mit.edu	37	5	86627205	86627205	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:86627205C>T	uc003kiw.3	+	1	779	c.580C>T	c.(580-582)Cgc>Tgc	p.R194C	RASA1_uc010jav.3_Non-coding_Transcript|RASA1_uc003kix.3_Missense_Mutation_p.R17C|RASA1_uc011ctv.2_Missense_Mutation_p.R27C|RASA1_uc011ctw.2_Missense_Mutation_p.R28C|RASA1_uc010jaw.3_Missense_Mutation_p.R17C	NM_002890	NP_002881	P20936	RASA1_HUMAN	Homo sapiens RAS p21 protein activator (GTPase activating protein) 1 (RASA1), transcript variant 1, mRNA.	194	SH2 1.				cytokinesis|embryo development|intracellular signal transduction|negative regulation of Ras protein signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|positive regulation of anti-apoptosis|regulation of RNA metabolic process|regulation of actin filament polymerization|regulation of cell shape|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	GTPase binding|Ras GTPase activator activity|glycoprotein binding|potassium channel inhibitor activity|receptor binding	p.R194C(2)|p.R17C(1)		NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		AGCAGAAGAACGCCTCAGGCA	0.428000														57			27		0	0	1	0	0
CSNK1G2	1455	broad.mit.edu	37	19	1978308	1978308	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:1978308G>A	uc002lul.4	+	2	714	c.192G>A	c.(190-192)aaG>aaA	p.K64K	CSNK1G2_uc010dsu.3_Silent_p.K16K	NM_001319	NP_001310	P78368	KC1G2_HUMAN	Homo sapiens casein kinase 1, gamma 2 (CSNK1G2), mRNA.	64	Protein kinase.				Wnt receptor signaling pathway|sphingolipid metabolic process	cytosol	ATP binding|protein serine/threonine kinase activity			endometrium(1)|kidney(1)|lung(3)|prostate(1)|skin(1)|stomach(1)	8		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCGCAGGAAAGAATCTCTATA	0.657000														39			9		0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164750400	164750400	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:164750400C>T	uc003fei.3	-	23	2709	c.2646G>A	c.(2644-2646)ggG>ggA	p.G882G		NM_001041	NP_001032	P14410	SUIS_HUMAN	Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA.	882	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	Golgi apparatus|apical plasma membrane|brush border|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TGTCTGTCAACCCAAGGATTT	0.358000										HNSCC(35;0.089)				34			17		0	0	1	0	0
FMR1NB	158521	broad.mit.edu	37	X	147084731	147084731	+	Nonsense_Mutation	SNP	T	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:147084731T>A	uc004fcm.3	+	1	362	c.288T>A	c.(286-288)taT>taA	p.Y96*		NM_152578	NP_689791	Q8N0W7	FMR1N_HUMAN	Homo sapiens fragile X mental retardation 1 neighbor (FMR1NB), mRNA.	96						integral to membrane				breast(2)|cervix(1)|endometrium(3)|large_intestine(7)|lung(10)|ovary(1)|skin(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					GGTCCTCATATTTTGTGCTTG	0.353000														125			58		0	0	1	0	0
NARS2	79731	broad.mit.edu	37	11	78277319	78277319	+	Splice_Site	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:78277319C>A	uc001ozi.3	-	4	749	c.373_splice	c.e4-1	p.D125_splice	NARS2_uc010rsq.2_Splice_Site	NM_024678	NP_001230180	Q96I59	SYNM_HUMAN	Homo sapiens asparaginyl-tRNA synthetase 2, mitochondrial (putative) (NARS2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	125					asparaginyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|asparagine-tRNA ligase activity|nucleic acid binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)	27	all_cancers(14;2.63e-17)|all_epithelial(13;1.85e-19)				L-Asparagine(DB00174)	TGGGGAAATCCTGCCAATAAA	0.363000														32			28		4.59853e-10	5.52125e-10	1	1	0
MEF2A	4205	broad.mit.edu	37	15	100173378	100173378	+	Splice_Site	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:100173378G>T	uc010urw.2	+	2	413	c.54_splice	c.e2+1	p.Q18_splice	MEF2A_uc002bve.3_Splice_Site_p.Q18_splice|MEF2A_uc002bvg.3_Splice_Site_p.Q18_splice|MEF2A_uc010urv.2_Splice_Site_p.Q18_splice|MEF2A_uc010bos.3_Splice_Site_p.Q18_splice|MEF2A_uc002bvf.3_Splice_Site_p.Q18_splice|MEF2A_uc002bvi.3_Splice_Site_p.Q18_splice|MEF2A_uc010bot.3_Splice_Site_p.Q18_splice	NM_005587	NP_005578	Q02078	MEF2A_HUMAN	Homo sapiens myocyte enhancer factor 2A (MEF2A), transcript variant 1, mRNA.	18	Lys-rich (basic).|MADS-box.				BMK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|apoptosis|cardiac conduction|cellular response to calcium ion|dendrite morphogenesis|innate immune response|mitochondrial genome maintenance|mitochondrion distribution|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|ventricular cardiac myofibril development	nuclear chromatin|nucleoplasm	RNA polymerase II regulatory region sequence-specific DNA binding|SMAD binding|activating transcription factor binding|histone acetyltransferase binding|histone deacetylase binding|protein heterodimerization activity|sequence-specific DNA binding RNA polymerase II transcription factor activity			endometrium(2)|large_intestine(2)|lung(7)|ovary(1)	12	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00085)			GGAACCGACAGGTAAATGaaa	0.274000														5			7		8.12818e-05	8.84769e-05	1	1	0
C8orf86	389649	broad.mit.edu	37	8	38386085	38386085	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:38386085C>T	uc003xlx.1	-	0	96	c.71G>A	c.(70-72)aGc>aAc	p.S24N		NM_207412	NP_997295	Q6ZUL3	CH086_HUMAN	Homo sapiens chromosome 8 open reading frame 86 (C8orf86), mRNA.	24										breast(1)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	5						GTCTCTAAGGCTCCTGCCAAC	0.552000														25			23		0	0	1	0	0
MMP12	4321	broad.mit.edu	37	11	102736621	102736621	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:102736621T>C	uc001phk.3	-	8	1185	c.1088A>G	c.(1087-1089)tAt>tGt	p.Y363C		NM_002426	NP_002417	P39900	MMP12_HUMAN	Homo sapiens matrix metallopeptidase 12 (macrophage elastase) (MMP12), mRNA.	364	Hemopexin-like 2.				positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)	GCTCTTGGGATAATTTGGCTC	0.318000														29			17		0	0	1	0	0
ADAM30	11085	broad.mit.edu	37	1	120438761	120438761	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:120438761G>A	uc001eij.3	-	0	387	c.199C>T	c.(199-201)Cag>Tag	p.Q67*		NM_021794	NP_068566	Q9UKF2	ADA30_HUMAN	Homo sapiens ADAM metallopeptidase domain 30 (ADAM30), mRNA.	67					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	p.Q67H(2)		NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		CCTTTTAACTGCAGTAGGTAG	0.542000														53			27		0	0	1	0	0
CWF19L1	55280	broad.mit.edu	37	10	102005653	102005653	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:102005653C>A	uc001kqq.1	-	8	954	c.867G>T	c.(865-867)caG>caT	p.Q289H	CWF19L1_uc001kqs.1_Missense_Mutation_p.Q41H|CWF19L1_uc001kqr.1_Missense_Mutation_p.Q289H|CWF19L1_uc001kqt.1_5'UTR|CWF19L1_uc010qpn.1_Missense_Mutation_p.Q152H	NM_018294	NP_060764	Q69YN2	C19L1_HUMAN	Homo sapiens CWF19-like 1, cell cycle control (S. pombe) (CWF19L1), mRNA.	289							catalytic activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|stomach(2)	17		Colorectal(252;0.117)		Epithelial(162;3.78e-10)|all cancers(201;3.1e-08)		CAAAGAAAAACTGACAGGCTG	0.413000														49			23		1.22574e-08	1.44238e-08	1	1	0
FBXO42	54455	broad.mit.edu	37	1	16641705	16641705	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:16641705G>A	uc001ayg.3	-	1	425	c.209C>T	c.(208-210)aCt>aTt	p.T70I	FBXO42_uc001ayf.3_5'UTR|FBXO42_uc001ayh.3_Missense_Mutation_p.T70I	NM_018994	NP_061867	Q6P3S6	FBX42_HUMAN	Homo sapiens F-box protein 42 (FBXO42), mRNA.	70	F-box.									autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	26		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)		AAGGGCCGCAGTTTTGTGTTC	0.413000														48			36		0	0	1	0	0
SLC26A4	5172	broad.mit.edu	37	7	107314714	107314714	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:107314714C>A	uc003vep.3	+	4	745	c.521C>A	c.(520-522)aCt>aAt	p.T174N	Mir_548_uc022ajy.1_5'Flank	NM_000441	NP_000432	O43511	S26A4_HUMAN	Homo sapiens solute carrier family 26, member 4 (SLC26A4), mRNA.	174					regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						TTAAATACTACTATGATAGAC	0.438000									Pendred syndrome					59			53		1.54886e-18	1.9875e-18	1	1	0
EMD	2010	broad.mit.edu	37	X	153609120	153609120	+	Missense_Mutation	SNP	A	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153609120A>T	uc004fkl.3	+	4	655	c.407A>T	c.(406-408)gAt>gTt	p.D136V		NM_000117	NP_000108	P50402	EMD_HUMAN	Homo sapiens emerin (EMD), mRNA.	136	Interaction with F-actin (Probable).				cellular response to growth factor stimulus|muscle contraction|muscle organ development|negative regulation of catenin import into nucleus|negative regulation of fibroblast proliferation|positive regulation of protein export from nucleus|regulation of canonical Wnt receptor signaling pathway	endoplasmic reticulum|integral to membrane|microtubule|nuclear inner membrane|nuclear outer membrane	actin binding|beta-tubulin binding			lung(5)	5	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CAGGTGCATGATGACGATCTT	0.612000														69			31		0	0	1	0	0
DPYD	1806	broad.mit.edu	37	1	97771825	97771825	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:97771825C>T	uc001drv.3	-	16	2224	c.2087G>A	c.(2086-2088)cGc>cAc	p.R696H		NM_000110	NP_000101	Q12882	DPYD_HUMAN	Homo sapiens dihydropyrimidine dehydrogenase (DPYD), transcript variant 1, mRNA.	696					'de novo' pyrimidine base biosynthetic process|UMP biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|NADP binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	CCTAACCCAGCGGCAGATGTT	0.428000														194			54		0	0	1	0	0
ITPKB	3707	broad.mit.edu	37	1	226829634	226829634	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:226829634G>A	uc010pvo.2	-	4	2779	c.2439C>T	c.(2437-2439)atC>atT	p.I813I		NM_002221	NP_002212	P27987	IP3KB_HUMAN	Homo sapiens inositol-trisphosphate 3-kinase B (ITPKB), mRNA.	813							ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				TGATTCCCTCGATCCTGAACC	0.657000														60			44		0	0	1	0	0
MAN1A1	4121	broad.mit.edu	37	6	119501064	119501064	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:119501064G>A	uc003pym.1	-	12	2324	c.1882C>T	c.(1882-1884)Cat>Tat	p.H628Y		NM_005907	NP_005898	P33908	MA1A1_HUMAN	Homo sapiens mannosidase, alpha, class 1A, member 1 (MAN1A1), mRNA.	628					post-translational protein modification|protein N-linked glycosylation via asparagine	ER-Golgi intermediate compartment|Golgi membrane|endoplasmic reticulum|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3)	24		all_epithelial(87;0.173)		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)		AAGATCCAATGCTCCAGTGGA	0.378000														46			25		0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10466584	10466584	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:10466584G>A	uc003wtc.3	-	3	5253	c.5024C>T	c.(5023-5025)aCa>aTa	p.T1675I		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	1675					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TGCCCCCATTGTGGCCTTGGG	0.627000														59			34		0	0	1	0	0
BAG5	9529	broad.mit.edu	37	14	104026381	104026381	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:104026381C>T	uc021seg.1	-	0	1121	c.1121G>A	c.(1120-1122)gGa>gAa	p.G374E	KLC1_uc010tyd.1_5'Flank|BAG5_uc001yni.2_Missense_Mutation_p.G374E|BAG5_uc001ynh.2_Missense_Mutation_p.G415E|BAG5_uc001ynj.2_Missense_Mutation_p.G374E|KLC1_uc010tyc.2_5'Flank	NM_004873	NP_004864	Q9UL15	BAG5_HUMAN	Homo sapiens BCL2-associated athanogene 5 (BAG5), transcript variant 2, mRNA.	374	BAG 5.				apoptosis|negative regulation of protein refolding|negative regulation of ubiquitin-protein ligase activity|neuron death|protein folding|regulation of inclusion body assembly	inclusion body|perinuclear region of cytoplasm	chaperone binding|ubiquitin protein ligase binding			endometrium(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	24		Melanoma(154;0.155)	Epithelial(46;0.144)			AGACAAGTTTCCAAGGACGTT	0.468000														70			41		0	0	1	0	0
C10orf47	254427	broad.mit.edu	37	10	11908610	11908610	+	Silent	SNP	C	T	T	rs142720162		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:11908610C>T	uc001ikx.3	+	2	373	c.219C>T	c.(217-219)gaC>gaT	p.D73D	LOC219731_uc001iky.2_Intron	NM_153256	NP_694988	Q86WR7	CJ047_HUMAN	Homo sapiens chromosome 10 open reading frame 47 (C10orf47), mRNA.	73										central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7						ACTCCCTAGACGAGGACTTTG	0.547000														60			42		0	0	1	0	0
ZNF398	57541	broad.mit.edu	37	7	148876569	148876569	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:148876569C>T	uc011kum.2	+	6	1761	c.1620C>T	c.(1618-1620)ggC>ggT	p.G540G	ZNF398_uc011kul.2_Silent_p.G364G|ZNF398_uc003wfl.3_Silent_p.G535G	NM_020781	NP_065832	Q8TD17	ZN398_HUMAN	Homo sapiens zinc finger protein 398 (ZNF398), transcript variant 2, mRNA.	535					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)	25	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00143)			TGCACACAGGCGAGCGGCCCT	0.607000														42			18		0	0	1	0	0
OR6C65	403282	broad.mit.edu	37	12	55795115	55795115	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:55795115T>C	uc010spl.2	+	0	803	c.803T>C	c.(802-804)tTg>tCg	p.L268S		NM_001005518	NP_001005518	A6NJZ3	O6C65_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 65 (OR6C65), mRNA.	268					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(3)|lung(9)	15						GGTATGGCTTTGAGCAAAGGT	0.393000														45			31		0	0	1	0	0
AGXT	189	broad.mit.edu	37	2	241815387	241815387	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:241815387G>A	uc002waa.4	+	7	933	c.812G>A	c.(811-813)aGc>aAc	p.S271N	AGXT_uc002wab.4_5'Flank	NM_000030	NP_000021	P21549	SPYA_HUMAN	Homo sapiens alanine-glyoxylate aminotransferase (AGXT), mRNA.	271					glyoxylate metabolic process|protein targeting to peroxisome	mitochondrial matrix|peroxisomal matrix	alanine-glyoxylate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|serine-pyruvate transaminase activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)	18		all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)	Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	AGCCTGTACAGCCTGAGAGAG	0.632000														15			4		0	0	1	0	0
CSNK2A1	1457	broad.mit.edu	37	11	11374418	11374418	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:11374418C>A	uc001mjp.3	-	0	487	c.249G>T	c.(247-249)aaG>aaT	p.K83N	GALNTL4_uc001mjo.2_Intron	NM_177559	NP_808227	P68400	CSK21_HUMAN	Homo sapiens casein kinase 2, alpha 1 polypeptide (CSNK2A1), transcript variant 1, mRNA.	83	Protein kinase.				Wnt receptor signaling pathway|axon guidance	NuRD complex|Sin3 complex|cytosol|plasma membrane	ATP binding|protein N-terminus binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.0969)			TCTCCAAAATCTTTATTTCAC	0.373000														90			51		7.59065e-32	1.00277e-31	1	1	0
TIGD4	201798	broad.mit.edu	37	4	153691371	153691371	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:153691371G>A	uc003imy.3	-	1	1607	c.786C>T	c.(784-786)tcC>tcT	p.S262S	TIGD4_uc021xtf.1_Silent_p.S262S	NM_145720	NP_663772	Q8IY51	TIGD4_HUMAN	Homo sapiens tigger transposable element derived 4 (TIGD4), mRNA.	262	DDE.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding|chromatin binding			breast(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.093)					CAAATACATCGGAGGTCATCC	0.408000														90			39		0	0	1	0	0
ZNF347	84671	broad.mit.edu	37	19	53643864	53643864	+	Silent	SNP	G	A	A	rs151303414		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:53643864G>A	uc002qbc.2	-	4	2647	c.2220C>T	c.(2218-2220)tgC>tgT	p.C740C	ZNF347_uc002qbb.2_Silent_p.C739C|ZNF347_uc010eql.2_Silent_p.C740C	NM_001172674	NP_001166146	Q96SE7	ZN347_HUMAN	Homo sapiens zinc finger protein 347 (ZNF347), transcript variant 1, mRNA.	739					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		CACACTCATTGCATTTGTAAG	0.428000														110			71		0	0	1	0	0
MAP3K8	1326	broad.mit.edu	37	10	30739353	30739353	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:30739353C>T	uc001ivi.2	+	4	1283	c.671C>T	c.(670-672)cCa>cTa	p.P224L	MAP3K8_uc009xlf.2_Missense_Mutation_p.P224L|MAP3K8_uc001ivj.2_Missense_Mutation_p.P224L	NM_005204	NP_005195	P41279	M3K8_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 8 (MAP3K8), transcript variant 1, mRNA.	224	Protein kinase.				T cell costimulation|cell cycle	cytosol	ATP binding|MAP kinase kinase kinase activity|magnesium ion binding|protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Prostate(175;0.151)				AGCTGTGGACCAATGAGAGAA	0.448000														43			32		0	0	1	0	0
ZPBP2	124626	broad.mit.edu	37	17	38029311	38029311	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:38029311C>A	uc002hte.3	+	5	793	c.640C>A	c.(640-642)Ccg>Acg	p.P214T	ZPBP2_uc002htf.3_Missense_Mutation_p.P192T	NM_199321	NP_955353	Q6X784	ZPBP2_HUMAN	Homo sapiens zona pellucida binding protein 2 (ZPBP2), transcript variant 2, mRNA.	214					binding of sperm to zona pellucida	extracellular region		p.A213A(1)		kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15	Colorectal(19;0.000442)		Lung(15;0.00849)|LUSC - Lung squamous cell carcinoma(15;0.171)			TCCTTTTGCGCCGGGGTGGAA	0.388000														46			4		3.59834e-05	3.95114e-05	1	1	0
ALDH1L2	160428	broad.mit.edu	37	12	105431891	105431891	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:105431891G>T	uc001tlc.3	-	17	2262	c.2135C>A	c.(2134-2136)gCt>gAt	p.A712D	ALDH1L2_uc009zuo.3_Missense_Mutation_p.A167D|ALDH1L2_uc009zup.3_Non-coding_Transcript	NM_001034173	NP_001029345	Q3SY69	AL1L2_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member L2 (ALDH1L2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	712	Aldehyde dehydrogenase.			A -> T (in Ref. 1; AAI03935).	10-formyltetrahydrofolate catabolic process|biosynthetic process	mitochondrion	acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity|phosphopantetheine binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						CATTCGCACAGCCTTGTCAAG	0.463000														30			11		2.61681e-11	3.19342e-11	1	1	0
SHROOM4	57477	broad.mit.edu	37	X	50350483	50350483	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:50350483C>A	uc004dpe.2	-	5	3685	c.3659G>T	c.(3658-3660)aGg>aTg	p.R1220M	SHROOM4_uc004dpd.3_Non-coding_Transcript	NM_020717	NP_065768	Q9ULL8	SHRM4_HUMAN	Homo sapiens shroom family member 4 (SHROOM4), transcript variant 1, mRNA.	1220	ASD2.				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					CAAGTGACCCCTTATTGGAGG	0.552000														32			17		2.35188e-11	2.87337e-11	1	1	0
ZNHIT6	54680	broad.mit.edu	37	1	86173468	86173468	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:86173468A>G	uc001dlh.3	-	0	649	c.500T>C	c.(499-501)tTt>tCt	p.F167S	ZNHIT6_uc010osc.2_Missense_Mutation_p.F128S	NM_017953	NP_060423	Q9NWK9	BCD1_HUMAN	Homo sapiens zinc finger, HIT-type containing 6 (ZNHIT6), transcript variant 1, mRNA.	167	Glu-rich.				box C/D snoRNP assembly|ribosome biogenesis	pre-snoRNP complex	identical protein binding|metal ion binding			autonomic_ganglia(1)|breast(2)|cervix(2)|large_intestine(10)|lung(1)|urinary_tract(1)	17						TTGACCAACAAACTTCTCCTC	0.398000														316			16		0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21599273	21599273	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:21599273G>A	uc003svc.3	+	3	776	c.745G>A	c.(745-747)Gaa>Aaa	p.E249K		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	249	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TGTGGTTATTGAATGGTCACA	0.338000									Kartagener syndrome					24			3		0	0	1	0	0
TTC29	83894	broad.mit.edu	37	4	147824791	147824791	+	Missense_Mutation	SNP	T	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:147824791T>A	uc003ikx.4	-	6	819	c.569A>T	c.(568-570)gAa>gTa	p.E190V	TTC29_uc003ikw.4_Missense_Mutation_p.E164V|TTC29_uc010ipc.3_Non-coding_Transcript|TTC29_uc010ipd.1_Missense_Mutation_p.E164V	NM_031956	NP_114162	Q8NA56	TTC29_HUMAN	Homo sapiens tetratricopeptide repeat domain 29 (TTC29), mRNA.	164							binding			breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					AAAACATCGTTCATAGAAGTG	0.413000														18			13		0	0	1	0	0
MAGEC3	139081	broad.mit.edu	37	X	140969286	140969286	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:140969286C>A	uc011mwp.2	+	3	613	c.613C>A	c.(613-615)Ctc>Atc	p.L205I		NM_138702	NP_619647	Q8TD91	MAGC3_HUMAN	Homo sapiens melanoma antigen family C, 3 (MAGEC3), transcript variant 1, mRNA.	205	MAGE 1.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					AAAAGAGCCTCTCACAAGAGC	0.448000														153			21		6.44725e-10	7.73661e-10	1	1	0
TCEAL6	158931	broad.mit.edu	37	X	101396115	101396115	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:101396115C>A	uc022cas.1	-	0	189	c.189G>T	c.(187-189)aaG>aaT	p.K63N	TCEAL6_uc004eiq.3_Missense_Mutation_p.K63N	NM_001006938	NP_001006939	Q6IPX3	TCAL6_HUMAN	Homo sapiens transcription elongation factor A (SII)-like 6 (TCEAL6), mRNA.	63	Glu-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	14						CCTGGCTTCCCTTATCTTCCA	0.617000														73			39		5.71845e-15	7.1882e-15	1	1	0
HLX	3142	broad.mit.edu	37	1	221057895	221057895	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:221057895C>T	uc001hmv.4	+	3	1773	c.1316C>T	c.(1315-1317)gCc>gTc	p.A439V		NM_021958	NP_068777	Q14774	HLX_HUMAN	Homo sapiens H2.0-like homeobox (HLX), mRNA.	439	Ser-rich.				cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(9)|lung(11)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(131;0.00914)		ttcagcagcgccagcagtctt	0.662000														6			5		0	0	1	0	0
COL16A1	1307	broad.mit.edu	37	1	32157670	32157670	+	Splice_Site	SNP	T	C	C	rs2228554		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:32157670T>C	uc001btk.1	-	17	1560	c.1195_splice	c.e17-1	p.G399_splice	COL16A1_uc001btj.1_Splice_Site_p.G228_splice|COL16A1_uc001btl.4_Splice_Site_p.G399_splice	NM_001856	NP_001847	Q07092	COGA1_HUMAN	Homo sapiens collagen, type XVI, alpha 1 (COL16A1), mRNA.	399	Triple-helical region 9 (COL9) with 3 imperfections.				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		TTTCTGGCCCTGGGGAAGGAA	0.642000														51			24		0	0	1	0	0
TH1L	51497	broad.mit.edu	37	20	57568587	57568587	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:57568587C>T	uc002yag.3	+	11	1482	c.1455C>T	c.(1453-1455)gaC>gaT	p.D485D	TH1L_uc002yaf.1_Non-coding_Transcript	NM_198976	NP_945327	Q8IXH7	NELFD_HUMAN	Homo sapiens TH1-like (Drosophila) (TH1L), transcript variant 1, mRNA.	485					negative regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein binding			breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23	all_lung(29;0.00711)		Colorectal(105;0.109)			CCCAGCTGGACGTGATGGAGC	0.592000														24			15		0	0	1	0	0
EHD3	30845	broad.mit.edu	37	2	31489453	31489453	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:31489453C>T	uc002rnu.3	+	5	2099	c.1491C>T	c.(1489-1491)gaC>gaT	p.D497D	EHD3_uc010ymt.2_3'UTR	NM_014600	NP_055415	Q9NZN3	EHD3_HUMAN	Homo sapiens EH-domain containing 3 (EHD3), mRNA.	497	EF-hand.|EH.				blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|GTP binding|GTPase activity|calcium ion binding|nucleic acid binding|protein binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					GCATGCTGGACGACGACGAGT	0.602000														43			26		0	0	1	0	0
ARAP1	116985	broad.mit.edu	37	11	72408651	72408651	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:72408651C>T	uc001osu.3	-	19	2970	c.2781G>A	c.(2779-2781)gaG>gaA	p.E927E	ARAP1_uc001osv.3_Silent_p.E927E|ARAP1_uc001osr.3_Silent_p.E687E|ARAP1_uc001oss.3_Silent_p.E682E|ARAP1_uc009yth.3_Silent_p.E621E|ARAP1_uc010rre.2_Silent_p.E682E	NM_001040118	NP_056057	Q96P48	ARAP1_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1 (ARAP1), transcript variant 3, mRNA.	927					actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	Golgi cisterna membrane|cytosol|plasma membrane	ARF GTPase activator activity|Rho GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						ACCTCCTTCGCTCCACCAGCA	0.632000														54			34		0	0	1	0	0
BMP15	9210	broad.mit.edu	37	X	50659372	50659372	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:50659372A>G	uc011mnw.2	+	1	993	c.944A>G	c.(943-945)tAc>tGc	p.Y315C		NM_005448	NP_005439	O95972	BMP15_HUMAN	Homo sapiens bone morphogenetic protein 15 (BMP15), mRNA.	315					female gamete generation|granulosa cell development|ovarian follicle development	extracellular space	cytokine activity|growth factor activity			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(1)	26	Ovarian(276;0.236)					CCCCCTTTCTACACCCCAAAC	0.488000														113			13		0	0	1	0	0
USP24	23358	broad.mit.edu	37	1	55560968	55560968	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:55560968G>A	uc021onw.1	-	50	6416	c.6163C>T	c.(6163-6165)Cga>Tga	p.R2055*	USP24_uc001cyg.4_Nonsense_Mutation_p.R1889*	NM_015306	NP_056121	Q9UPU5	UBP24_HUMAN	Homo sapiens ubiquitin specific peptidase 24 (USP24), mRNA.	2055					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						ACGCTGACTCGACTTTTCTTT	0.448000														19			8		0	0	1	0	0
SEC13	6396	broad.mit.edu	37	3	10353769	10353769	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:10353769G>A	uc003bvn.3	-	4	452	c.330C>T	c.(328-330)tgC>tgT	p.C110C	SEC13_uc003bvl.3_Silent_p.C42C|SEC13_uc003bvm.3_Silent_p.C96C|SEC13_uc003bvp.3_Silent_p.C113C|SEC13_uc003bvo.3_Silent_p.C156C|SEC13_uc003bvr.1_Silent_p.C96C|SEC13_uc011aul.2_Silent_p.C110C	NM_183352	NP_001129704	P55735	SEC13_HUMAN	Homo sapiens SEC13 homolog (S. cerevisiae) (SEC13), transcript variant 1, mRNA.	110					COPII vesicle coating|intracellular protein transport|mRNA transport|mitotic prometaphase|post-translational protein modification|protein N-linked glycosylation via asparagine|transmembrane transport	ER to Golgi transport vesicle membrane|Nup107-160 complex|cytosol|endoplasmic reticulum membrane	protein binding			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	17						GGGGGGCCCAGCACACCGAGT	0.592000														6			4		0	0	1	0	0
CAMK2A	815	broad.mit.edu	37	5	149602646	149602646	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:149602646C>T	uc003lru.2	-	16	1554	c.1339G>A	c.(1339-1341)Gcc>Acc	p.A447T	CAMK2A_uc003lrt.2_Missense_Mutation_p.A458T	NM_171825	NP_741960	Q9UQM7	KCC2A_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase II alpha (CAMK2A), transcript variant 2, mRNA.	447					interferon-gamma-mediated signaling pathway|positive regulation of NF-kappaB transcription factor activity|synaptic transmission	cell junction|cytosol|endocytic vesicle membrane|nucleoplasm|presynaptic membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1)	15		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCCGACTGGGCGGTGCGTGGG	0.642000														33			24		0	0	1	0	0
VCAN	1462	broad.mit.edu	37	5	82836002	82836002	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:82836002A>G	uc003kii.3	+	7	7536	c.7180A>G	c.(7180-7182)Aca>Gca	p.T2394A	VCAN_uc003kij.3_Missense_Mutation_p.T1407A|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Missense_Mutation_p.T1058A	NM_004385	NP_004376	P13611	CSPG2_HUMAN	Homo sapiens versican (VCAN), transcript variant 1, mRNA.	2394	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		AATTAACGAAACAACAACCTC	0.383000														38			11		0	0	1	0	0
HERC2	8924	broad.mit.edu	37	15	28463781	28463781	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:28463781G>A	uc001zbj.3	-	37	5988	c.5882C>T	c.(5881-5883)gCa>gTa	p.A1961V		NM_004667	NP_004658	O95714	HERC2_HUMAN	Homo sapiens hect domain and RLD 2 (HERC2), mRNA.	1961					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		AAACATCATTGCAGTGGGGTG	0.388000														54			24		0	0	1	0	0
CENPE	1062	broad.mit.edu	37	4	104080348	104080348	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:104080348G>A	uc003hxb.1	-	21	2510	c.2420C>T	c.(2419-2421)aCt>aTt	p.T807I	CENPE_uc003hxc.1_Missense_Mutation_p.T782I	NM_001813	NP_001804	Q02224	CENPE_HUMAN	Homo sapiens centromere protein E, 312kDa (CENPE), mRNA.	807					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)		CGACTGTGTAGTTGCTAGGTC	0.333000														45			33		0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103202385	103202385	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:103202385C>A	uc022ajr.1	-	34	5386	c.5226G>T	c.(5224-5226)cgG>cgT	p.R1742R	RELN_uc022ajq.1_Silent_p.R1742R|RELN_uc010liz.3_Silent_p.R1742R	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	1742					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TCCATCTGAACCGGGTCCTGG	0.453000														32			7		0.248553	0.249802	1	1	0
TFCP2L1	29842	broad.mit.edu	37	2	121995414	121995414	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:121995414C>T	uc002tmx.3	-	8	966	c.873G>A	c.(871-873)ccG>ccA	p.P291P	TFCP2L1_uc010flr.3_Silent_p.P291P	NM_014553	NP_055368	Q9NZI6	TF2L1_HUMAN	Homo sapiens transcription factor CP2-like 1 (TFCP2L1), mRNA.	291					female pregnancy|steroid biosynthetic process	mitochondrion|nucleolus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)|pancreas(2)|skin(1)|stomach(1)	22	Renal(3;0.01)					CCGGGTGGGTCGGAGAGGCGT	0.637000														21			12		0	0	1	0	0
ANKDD1A	348094	broad.mit.edu	37	15	65223741	65223741	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:65223741G>T	uc002aoa.3	+	7	755	c.726G>T	c.(724-726)caG>caT	p.Q242H	ANKDD1A_uc002anx.1_Missense_Mutation_p.Q238H|ANKDD1A_uc002any.3_Missense_Mutation_p.Q151H|ANKDD1A_uc002anz.3_Missense_Mutation_p.Q151H|ANKDD1A_uc002aob.3_Missense_Mutation_p.Q107H|ANKDD1A_uc002aoc.3_Non-coding_Transcript|ANKDD1A_uc010bha.3_Missense_Mutation_p.Q151H	NM_182703	NP_874362	Q495B1	AKD1A_HUMAN	Homo sapiens ankyrin repeat and death domain containing 1A (ANKDD1A), mRNA.	242					signal transduction					NS(1)|endometrium(1)|large_intestine(10)|liver(2)|lung(4)|ovary(1)|prostate(2)	21						ACTGTGTGCAGCTCCTCCTCA	0.622000														15			13		1.61879e-10	1.95797e-10	1	1	0
FBF1	85302	broad.mit.edu	37	17	73911096	73911096	+	Splice_Site	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:73911096A>G	uc002jqc.3	-	23	2857	c.2583_splice	c.e23+1	p.K861_splice	FBF1_uc002jqa.1_Splice_Site|FBF1_uc010wsp.2_Splice_Site_p.K852_splice|FBF1_uc002jqb.3_Splice_Site|FBF1_uc010dgr.2_Splice_Site_p.K172_splice	NM_001080542	NP_001074011	A6NLR5	A6NLR5_HUMAN	Homo sapiens Fas (TNFRSF6) binding factor 1 (FBF1), mRNA.	861										large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	4						GGCTTGACTCACCTTGGCCCG	0.652000														35			5		0	0	1	0	0
CDH23	64072	broad.mit.edu	37	10	73562688	73562688	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:73562688C>T	uc001jrx.4	+	51	7897	c.7507C>T	c.(7507-7509)Cgg>Tgg	p.R2503W	CDH23_uc001jsg.4_Missense_Mutation_p.R266W|CDH23_uc001jsh.4_Missense_Mutation_p.R266W|CDH23_uc001jsi.4_Missense_Mutation_p.R266W	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA.	2506	Cadherin 23.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CAATGACTGCCGGCCACAGTT	0.587000														17			15		0	0	1	0	0
KDM6B	23135	broad.mit.edu	37	17	7753421	7753421	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7753421T>C	uc002gix.3	+	2	2342	c.1505T>C	c.(1504-1506)gTc>gCc	p.V502A	KDM6B_uc002giw.1_Missense_Mutation_p.V1200A	NM_001080424	NP_001073893	O15054	KDM6B_HUMAN	Homo sapiens lysine (K)-specific demethylase 6B (KDM6B), mRNA.	1200	Pro-rich.				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						TTCTCACCTGTCCTGCTGCAG	0.612000														19			15		0	0	1	0	0
SLC12A9	56996	broad.mit.edu	37	7	100457591	100457591	+	Silent	SNP	G	A	A	rs140502011	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100457591G>A	uc003uwp.3	+	7	1204	c.1062G>A	c.(1060-1062)gcG>gcA	p.A354A	SLC12A9_uc003uwq.3_Silent_p.A265A|SLC12A9_uc011kki.2_5'UTR|SLC12A9_uc003uwr.3_Silent_p.A90A|SLC12A9_uc003uws.3_5'UTR|SLC12A9_uc003uwt.3_Silent_p.A90A|SLC12A9_uc003uwv.3_5'UTR	NM_020246	NP_064631	Q9BXP2	S12A9_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 9 (SLC12A9), mRNA.	354						integral to membrane|plasma membrane	cation:chloride symporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					ATGCCACAGCGCTCTCAGCGT	0.597000														95			35		0	0	1	0	0
POLD1	5424	broad.mit.edu	37	19	50918728	50918728	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:50918728C>T	uc010eny.3	+	19	2677	c.2676C>T	c.(2674-2676)gaC>gaT	p.D892D	POLD1_uc002psb.4_Silent_p.D866D|POLD1_uc002psc.4_Silent_p.D866D|POLD1_uc010enx.3_Non-coding_Transcript	NM_002691	NP_002682	P28340	DPOD1_HUMAN	Homo sapiens polymerase (DNA directed), delta 1, catalytic subunit 125kDa (POLD1), mRNA.	866					DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|DNA binding|DNA-directed DNA polymerase activity|chromatin binding|metal ion binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		ACGCACAGGACGTCATCTCGG	0.662000								DNA polymerases (catalytic subunits)						22			13		0	0	1	0	0
NNT	23530	broad.mit.edu	37	5	43609301	43609301	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:43609301G>A	uc003joe.3	+	1	259	c.4G>A	c.(4-6)Gca>Aca	p.A2T	NNT_uc003jof.3_Missense_Mutation_p.A2T	NM_012343	NP_892022	Q13423	NNTM_HUMAN	Homo sapiens nicotinamide nucleotide transhydrogenase (NNT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	2					tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)				NADH(DB00157)	TATCAACATGGCAAACCTATT	0.398000														30			23		0	0	1	0	0
NOS2	4843	broad.mit.edu	37	17	26087105	26087105	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:26087105A>G	uc002gzu.3	-	24	3374	c.3110T>C	c.(3109-3111)gTg>gCg	p.V1037A		NM_000625	NP_000616	P35228	NOS2_HUMAN	Homo sapiens nitric oxide synthase 2, inducible (NOS2), mRNA.	1037					arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	FMN binding|NADP binding|arginine binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	CGCATGCAGCACCCCCTTCTG	0.602000											OREG0024268	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		59			5		0	0	1	0	0
JMJD1C	221037	broad.mit.edu	37	10	64967463	64967463	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:64967463C>T	uc001jmn.3	-	9	4266	c.3966G>A	c.(3964-3966)caG>caA	p.Q1322Q	JMJD1C_uc001jml.3_Silent_p.Q1103Q|JMJD1C_uc001jmm.3_Silent_p.Q1034Q|JMJD1C_uc010qiq.2_Silent_p.Q1140Q|JMJD1C_uc009xpi.3_Silent_p.Q1140Q|JMJD1C_uc009xpj.2_Non-coding_Transcript|JMJD1C_uc009xpk.1_Silent_p.Q359Q	NM_032776	NP_116165	Q15652	JHD2C_HUMAN	Homo sapiens jumonji domain containing 1C (JMJD1C), transcript variant 1, mRNA.	1322					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			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)					TAGAAGCTAACTGCATTGCTG	0.438000														124			7		0	0	1	0	0
ITIH6	347365	broad.mit.edu	37	X	54800551	54800551	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:54800551T>C	uc004dtj.2	-	5	896	c.866A>G	c.(865-867)gAc>gGc	p.D289G		NM_198510	NP_940912	Q6UXX5	ITH5L_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 6 (ITIH6), mRNA.	289	VWFA.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity										GCTGCTTACGTCAATAACAAA	0.418000														34			5		0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141727476	141727476	+	Nonsense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:141727476G>T	uc003vwy.3	+	9	1216	c.1162G>T	c.(1162-1164)Gga>Tga	p.G388*		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	388	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)	TTACGAATATGGAACCTTAGA	0.448000														52			4		2.56e-06	2.88678e-06	1	1	0
GAA	2548	broad.mit.edu	37	17	78079616	78079616	+	Silent	SNP	G	A	A	rs141427808		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:78079616G>A	uc002jxp.3	+	2	982	c.615G>A	c.(613-615)ccG>ccA	p.P205P	GAA_uc002jxo.3_Silent_p.P205P|GAA_uc002jxq.3_Silent_p.P205P	NM_000152	NP_001073272	P10253	LYAG_HUMAN	Homo sapiens glucosidase, alpha; acid (GAA), transcript variant 1, mRNA.	205					cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)	GCCGGGCACCGTCCCCACTCT	0.622000														49			6		0	0	1	0	0
SH2B1	25970	broad.mit.edu	37	16	28883304	28883304	+	Splice_Site	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:28883304G>T	uc002dri.3	+	8	1952	c.1513_splice	c.e8+1	p.G505_splice	NPIPL1_uc010vct.2_Intron|SH2B1_uc010vdc.2_Splice_Site_p.G195_splice|SH2B1_uc002drj.3_Splice_Site_p.G505_splice|SH2B1_uc002drk.3_Splice_Site_p.G505_splice|SH2B1_uc002drl.3_Splice_Site_p.G505_splice|SH2B1_uc010vdd.2_Splice_Site_p.G169_splice|SH2B1_uc010vde.2_Splice_Site_p.G505_splice|SH2B1_uc002drm.3_Splice_Site_p.G505_splice	NM_001145795	NP_001139267	Q9NRF2	SH2B1_HUMAN	Homo sapiens SH2B adaptor protein 1 (SH2B1), transcript variant 1, mRNA.	505	Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation) (By similarity).				blood coagulation|intracellular signal transduction	cytosol|membrane|nucleus	signal transducer activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						AACAGCCACAGGTACCGGAGG	0.642000														18			9		6.40141e-05	6.99953e-05	1	1	0
NCKAP1	10787	broad.mit.edu	37	2	183792952	183792952	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:183792952G>A	uc002upc.3	-	28	3475	c.3073C>T	c.(3073-3075)Cat>Tat	p.H1025Y	NCKAP1_uc002upb.3_Missense_Mutation_p.H1031Y	NM_013436	NP_038464	Q9Y2A7	NCKP1_HUMAN	Homo sapiens NCK-associated protein 1 (NCKAP1), transcript variant 1, mRNA.	1025					apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding			breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			TTGTTGCAATGCCCTGAGAAA	0.383000														45			23		0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77763428	77763428	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:77763428C>T	uc003yau.2	+	9	4658	c.4271C>T	c.(4270-4272)gCg>gTg	p.A1424V	ZFHX4_uc003yaw.1_Missense_Mutation_p.A1379V	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	1379						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ATTCGGGCTGCGACAATGTGT	0.458000										HNSCC(33;0.089)				16			9		0	0	1	0	0
YES1	7525	broad.mit.edu	37	18	743026	743026	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:743026G>T	uc002kky.3	-	7	1173	c.952C>A	c.(952-954)Ctt>Att	p.L318I	YES1_uc002kkz.3_Missense_Mutation_p.L318I	NM_005433	NP_005424	P07947	YES_HUMAN	Homo sapiens v-yes-1 Yamaguchi sarcoma viral oncogene homolog 1 (YES1), mRNA.	318	Protein kinase.				T cell costimulation|blood coagulation|leukocyte migration|regulation of vascular permeability	cytosol|plasma membrane	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)	17					Dasatinib(DB01254)	GCTTCTTGAAGGAAAGCTTCT	0.323000														72			10		0.000442599	0.000473562	1	1	0
SRSF5	6430	broad.mit.edu	37	14	70237985	70237985	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:70237985G>A	uc001xll.3	+	8	2077	c.626G>A	c.(625-627)cGc>cAc	p.R209H	SRSF5_uc001xlo.3_Missense_Mutation_p.R209H|SRSF5_uc001xlp.3_Missense_Mutation_p.R209H	NM_006925	NP_008856	Q13243	SRSF5_HUMAN	Homo sapiens serine/arginine-rich splicing factor 5 (SRSF5), transcript variant 2, mRNA.	209	Arg/Ser-rich (RS domain).				mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription	nuclear speck	RNA binding|nucleotide binding|protein binding			large_intestine(1)|liver(1)	2						TCCCGTAGTCGCAAATCTTAC	0.537000														67			36		0	0	1	0	0
ADAMTSL4	54507	broad.mit.edu	37	1	150526083	150526083	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:150526083G>A	uc009wlw.3	+	4	774	c.616G>A	c.(616-618)Gca>Aca	p.A206T	ADAMTSL4_uc001euw.3_Missense_Mutation_p.A206T|ADAMTSL4_uc001eux.3_Missense_Mutation_p.A206T|ADAMTSL4_uc010pcg.2_Missense_Mutation_p.A206T	NM_019032	NP_061905	Q6UY14	ATL4_HUMAN	Homo sapiens ADAMTS-like 4 (ADAMTSL4), transcript variant 1, mRNA.	206					apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			GCCATTCTCCGCAAACGGCAG	0.587000														51			20		0	0	1	0	0
OASL	8638	broad.mit.edu	37	12	121461853	121461853	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:121461853G>A	uc001tzj.1	-	4	993	c.987C>T	c.(985-987)tgC>tgT	p.C329C	OASL_uc001tzk.1_Missense_Mutation_p.P249S	NM_003733	NP_003724	Q15646	OASL_HUMAN	Homo sapiens 2'-5'-oligoadenylate synthetase-like (OASL), transcript variant 1, mRNA.	329					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoplasm|nucleolus	ATP binding|DNA binding|double-stranded RNA binding|thyroid hormone receptor binding|transferase activity			NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CCTGTTTCAGGCACTGGGAGG	0.572000														37			22		0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158641244	158641244	+	Splice_Site	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:158641244C>A	uc001fst.1	-	12	1688	c.1489_splice	c.e12-1	p.A497_splice		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	497					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CCAGGAAGGCCTGTAGAAGAC	0.498000														30			12		5.50884e-06	6.15991e-06	1	1	0
MLL2	8085	broad.mit.edu	37	19	36213916	36213916	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:36213916G>T	uc021usv.1	+	5	2742	c.2742G>T	c.(2740-2742)gaG>gaT	p.E914D	MLL2_uc021usu.1_5'UTR	NM_014727	NP_055542	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 4 (MLL4), mRNA.	674	Pro-rich.			Missing (in Ref. 1; AAC51734).	chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						CGGCGTCCGAGACTGAGAGTG	0.622000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				12			6		0.00198382	0.00208369	1	1	0
ATP8A2	51761	broad.mit.edu	37	13	26043137	26043137	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:26043137C>T	uc001uqk.3	+	1	241	c.99C>T	c.(97-99)ggC>ggT	p.G33G	ATP8A2_uc010tdi.2_5'UTR|ATP8A2_uc010tdj.2_Non-coding_Transcript|ATP8A2_uc001uql.1_5'UTR	NM_016529	NP_057613	Q9NTI2	AT8A2_HUMAN	Homo sapiens ATPase, aminophospholipid transporter, class I, type 8A, member 2 (ATP8A2), mRNA.	0					ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		CTTCTTTGGGCTATAAGAAGG	0.602000														24			23		0	0	1	0	0
AMDHD1	144193	broad.mit.edu	37	12	96350567	96350567	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:96350567G>A	uc001tel.2	+	3	520	c.414G>A	c.(412-414)ttG>ttA	p.L138L	AMDHD1_uc009zth.2_Silent_p.L29L	NM_152435	NP_689648	Q96NU7	HUTI_HUMAN	Homo sapiens amidohydrolase domain containing 1 (AMDHD1), mRNA.	138					histidine catabolic process to glutamate and formamide	cytosol	imidazolonepropionase activity|metal ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|skin(1)	22						TCCGCTCCTTGCAGCAACGGC	0.617000														46			7		0	0	1	0	0
OSMR	9180	broad.mit.edu	37	5	38933358	38933358	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:38933358G>A	uc003jln.2	+	17	3154	c.2752G>A	c.(2752-2754)Gtg>Atg	p.V918M	OSMR_uc011cpj.2_Missense_Mutation_p.V122M	NM_003999	NP_003990	Q99650	OSMR_HUMAN	Homo sapiens oncostatin M receptor (OSMR), transcript variant 1, mRNA.	918					cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					TTTGAATTATGTGTCCCAGTT	0.443000														68			12		0	0	1	0	0
SLC17A5	26503	broad.mit.edu	37	6	74304812	74304812	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:74304812T>C	uc003phn.4	-	10	1604	c.1476A>G	c.(1474-1476)ggA>ggG	p.G492G	SLC17A5_uc010kax.3_Silent_p.G151G|SLC17A5_uc010kay.3_Non-coding_Transcript	NM_012434	NP_036566	Q9NRA2	S17A5_HUMAN	Homo sapiens solute carrier family 17 (anion/sugar transporter), member 5 (SLC17A5), mRNA.	492					anion transport	integral to plasma membrane|lysosomal membrane|membrane fraction	sialic acid:hydrogen symporter activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						AGTGTCTGTGTCCATGGTGAT	0.358000														79			34		0	0	1	0	0
PHLPP1	23239	broad.mit.edu	37	18	60645923	60645923	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:60645923C>T	uc021ule.1	+	16	4658	c.4413C>T	c.(4411-4413)agC>agT	p.S1471S		NM_194449	NP_919431	O60346	PHLP1_HUMAN	Homo sapiens PH domain and leucine rich repeat protein phosphatase 1 (PHLPP1), mRNA.	1471					apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|membrane|nucleus	metal ion binding|protein serine/threonine phosphatase activity			endometrium(2)|kidney(2)|lung(13)	17						CCTCCAGCAGCGGCATGGCTT	0.632000														17			9		0	0	1	0	0
TG	7038	broad.mit.edu	37	8	134024203	134024203	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:134024203T>G	uc003ytw.3	+	35	6361	c.6320T>G	c.(6319-6321)aTt>aGt	p.I2107S	TG_uc010mdw.3_Missense_Mutation_p.I866S|TG_uc011ljb.2_Missense_Mutation_p.I476S|TG_uc011ljc.2_Missense_Mutation_p.I240S	NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	2107					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GATCCATCCATTAGGCACTTT	0.537000														265			34		0	0	1	0	0
KANK2	25959	broad.mit.edu	37	19	11280725	11280725	+	Splice_Site	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:11280725C>T	uc002mqm.3	-	9	2515	c.2436_splice	c.e9+1	p.R812_splice	KANK2_uc021upe.1_Splice_Site_p.R804_splice|KANK2_uc002mqo.4_Splice_Site_p.R804_splice|KANK2_uc002mqp.1_Splice_Site_p.R613_splice	NM_015493	NP_056308	Q63ZY3	KANK2_HUMAN	Homo sapiens KN motif and ankyrin repeat domains 2 (KANK2), transcript variant 1, mRNA.	804										endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						GAGACTCACGCGATCTGTGAG	0.642000														51			28		0	0	1	0	0
ASPH	444	broad.mit.edu	37	8	62475386	62475386	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:62475386T>C	uc003xuj.3	-	17	1623	c.1354A>G	c.(1354-1356)Aat>Gat	p.N452D	ASPH_uc011leg.2_Missense_Mutation_p.N423D|ASPH_uc003xuo.2_Missense_Mutation_p.N433D	NM_004318	NP_004309	Q12797	ASPH_HUMAN	Homo sapiens aspartate beta-hydroxylase (ASPH), transcript variant 1, mRNA.	452					muscle contraction	integral to endoplasmic reticulum membrane	calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle			breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	GAAGTATCATTGGGAAATAGT	0.358000														57			24		0	0	1	0	0
ZIC2	7546	broad.mit.edu	37	13	100635217	100635217	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:100635217A>G	uc001von.3	+	0	1192	c.899A>G	c.(898-900)cAc>cGc	p.H300R		NM_007129	NP_009060	O95409	ZIC2_HUMAN	Homo sapiens Zic family member 2 (ZIC2), mRNA.	300					brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception	cytoplasm|nucleus	chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CAGAGCAACCACGTCTGCTTC	0.587000														43			34		0	0	1	0	0
NOTCH1	4851	broad.mit.edu	37	9	139413915	139413915	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:139413915C>T	uc004chz.3	-	4	845	c.845G>A	c.(844-846)cGc>cAc	p.R282H		NM_017617	NP_060087	P46531	NOTC1_HUMAN	Homo sapiens notch 1 (NOTCH1), mRNA.	282	EGF-like 7; calcium-binding (Potential).			R -> P (in Ref. 1; AAG33848 and 3; AAA60614).	Notch receptor processing|aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.C281C(1)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		TGGCGGGCAGCGGCAGTTGTA	0.607000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)				44			25		0	0	1	0	0
ADAM18	8749	broad.mit.edu	37	8	39505913	39505913	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:39505913G>T	uc003xni.3	+	11	1152	c.1097G>T	c.(1096-1098)aGa>aTa	p.R366I	ADAM18_uc010lww.3_Intron|ADAM18_uc010lwx.3_Missense_Mutation_p.R342I	NM_014237	NP_055052	Q9Y3Q7	ADA18_HUMAN	Homo sapiens ADAM metallopeptidase domain 18 (ADAM18), transcript variant 1, mRNA.	366	Peptidase M12B.				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			CACGACTATAGATATTTTGTT	0.348000														41			20		3.10358e-05	3.42428e-05	1	1	0
DHX30	22907	broad.mit.edu	37	3	47882639	47882639	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:47882639G>T	uc003cru.3	+	6	1065	c.639G>T	c.(637-639)caG>caT	p.Q213H	DHX30_uc003crs.2_Missense_Mutation_p.Q174H|DHX30_uc003crt.3_Missense_Mutation_p.Q174H|DHX30_uc010hjr.1_Missense_Mutation_p.Q241H	NM_138615	NP_619520	Q7L2E3	DHX30_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 30 (DHX30), transcript variant 1, mRNA.	213						mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|RNA binding|protein 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)		TGACCCAGCAGGATTCCCACG	0.567000														15			5		1.23904e-05	1.3743e-05	1	1	0
CELSR2	1952	broad.mit.edu	37	1	109812366	109812366	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:109812366G>A	uc001dxa.4	+	21	7092	c.7031G>A	c.(7030-7032)cGc>cAc	p.R2344H		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 2 (flamingo homolog, Drosophila) (CELSR2), mRNA.	2344	GPS.				Wnt receptor signaling pathway|dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent	cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		GTCGTCTTCCGCAATGAGAGC	0.632000														61			76		0	0	1	0	0
GLIS3	169792	broad.mit.edu	37	9	4125771	4125771	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:4125771T>C	uc003zhx.1	-	2	1272	c.559A>G	c.(559-561)Aat>Gat	p.N187D	GLIS3_uc003zic.1_Missense_Mutation_p.N187D|GLIS3_uc003zie.1_Missense_Mutation_p.N187D|GLIS3_uc010mhh.1_Missense_Mutation_p.N62D|GLIS3_uc003zid.1_Intron|GLIS3_uc010mhi.1_Intron|GLIS3_uc003zif.1_Intron|GLIS3_uc003zih.1_Intron|GLIS3_uc003zig.1_Missense_Mutation_p.N31D|GLIS3_uc003zhw.1_Missense_Mutation_p.N32D|GLIS3_uc003zib.1_Missense_Mutation_p.N31D|GLIS3_uc010mhg.1_Intron	NM_001042413	NP_001035878	Q8NEA6	GLIS3_HUMAN	Homo sapiens GLIS family zinc finger 3 (GLIS3), transcript variant 1, mRNA.	32					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		TTGGCTGCATTCATTGCCCTC	0.463000														70			35		0	0	1	0	0
TNN	63923	broad.mit.edu	37	1	175049406	175049406	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:175049406C>A	uc001gkl.1	+	3	1005	c.892C>A	c.(892-894)Ctg>Atg	p.L298M	TNN_uc010pmx.1_Missense_Mutation_p.L298M	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	Homo sapiens tenascin N (TNN), mRNA.	298	Fibronectin type-III 1.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CTACTACCCCCTGGGGAAGGA	0.577000														44			12		6.40141e-05	6.99953e-05	1	1	0
ZC3HAV1	56829	broad.mit.edu	37	7	138793934	138793934	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:138793934G>A	uc003vun.3	-	0	532	c.144C>T	c.(142-144)cgC>cgT	p.R48R	ZC3HAV1_uc003vup.3_Silent_p.R48R	NM_020119	NP_064504	Q7Z2W4	ZCCHV_HUMAN	Homo sapiens zinc finger CCCH-type, antiviral 1 (ZC3HAV1), transcript variant 1, mRNA.	48					response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding			cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						ACACCACAAAGCGGTCGGGCC	0.711000														11			8		0	0	1	0	0
ZNF354B	117608	broad.mit.edu	37	5	178311162	178311162	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:178311162G>T	uc003mjl.3	+	4	1935	c.1709G>T	c.(1708-1710)aGa>aTa	p.R570I	ZNF354B_uc003mjm.3_Missense_Mutation_p.R570I	NM_058230	NP_478137	Q96LW1	Z354B_HUMAN	Homo sapiens zinc finger protein 354B (ZNF354B), mRNA.	570					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(7)|liver(2)|lung(2)|ovary(2)|stomach(3)|urinary_tract(1)	21	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCACATCAAAGAATTCATACT	0.343000														36			26		9.86323e-18	1.25926e-17	1	1	0
ASB17	127247	broad.mit.edu	37	1	76397592	76397592	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:76397592G>A	uc001dhe.2	-	0	525	c.385C>T	c.(385-387)Ctg>Ttg	p.L129L	ASB17_uc001dhf.2_Non-coding_Transcript	NM_080868	NP_543144	Q8WXJ9	ASB17_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 17 (ASB17), transcript variant 1, mRNA.	129					intracellular signal transduction					breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	21						ATCAGTGCCAGGTTACAACTT	0.338000														43			21		0	0	1	0	0
NBEAL2	23218	broad.mit.edu	37	3	47050155	47050155	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:47050155A>G	uc003cqp.3	+	51	8203	c.8024A>G	c.(8023-8025)aAc>aGc	p.N2675S	NRADDP_uc011bas.1_5'Flank|NBEAL2_uc010hjm.2_Missense_Mutation_p.N2052S|NBEAL2_uc010hjn.2_Missense_Mutation_p.N1041S	NM_015175	NP_055990	Q6ZNJ1	NBEL2_HUMAN	Homo sapiens neurobeachin-like 2 (NBEAL2), mRNA.	2675							binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		CTCCAACTAAACACGTAAGCC	0.572000														17			11		0	0	1	0	0
PIK3C2A	5286	broad.mit.edu	37	11	17122851	17122851	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:17122851T>G	uc001mmq.4	-	23	4047	c.3982A>C	c.(3982-3984)Aac>Cac	p.N1328H	PIK3C2A_uc009ygu.1_Intron|PIK3C2A_uc010rcw.2_Missense_Mutation_p.N948H|PIK3C2A_uc001mmr.3_Intron	NM_002645	NP_002636	O00443	P3C2A_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, alpha polypeptide (PIK3C2A), mRNA.	1328	PI3K/PI4K.				cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	Golgi apparatus|clathrin-coated vesicle|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58					Phosphatidylserine(DB00144)	AGAAAAAGGTTTGTCTGCTTT	0.338000														99			5		0	0	1	0	0
RFC4	5984	broad.mit.edu	37	3	186509558	186509558	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:186509558C>A	uc003fqz.3	-	7	980	c.757G>T	c.(757-759)Ggt>Tgt	p.G253C	RFC4_uc011bsc.2_Missense_Mutation_p.G253C|RFC4_uc011bsd.2_Missense_Mutation_p.G253C	NM_002916	NP_853551	P35249	RFC4_HUMAN	Homo sapiens replication factor C (activator 1) 4, 37kDa (RFC4), transcript variant 1, mRNA.	253					DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle|cell cycle checkpoint|nucleotide-excision repair, DNA gap filling|phosphatidylinositol-mediated signaling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|protein binding			breast(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_cancers(143;2.92e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)	GBM - Glioblastoma multiforme(93;0.0739)		TCCTTTCCACCTGTTAATCGA	0.378000														76			25		3.01185e-09	3.57228e-09	1	1	0
TTN	7273	broad.mit.edu	37	2	179483382	179483382	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179483382T>C	uc021vsy.1	-	199	39416	c.39191A>G	c.(39190-39192)aAa>aGa	p.K13064R	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.K6759R|TTN_uc021vta.1_Missense_Mutation_p.K6692R|TTN_uc021vtb.1_Missense_Mutation_p.K6567R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	13991							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)			ATACCTCCCTTTGTCTCCTTT	0.348000														103			10		0	0	1	0	0
TRAM1	23471	broad.mit.edu	37	8	71495549	71495549	+	Missense_Mutation	SNP	G	T	T	rs145093693	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:71495549G>T	uc003xyo.2	-	9	1161	c.901C>A	c.(901-903)Ctg>Atg	p.L301M	TRAM1_uc011lfc.2_Missense_Mutation_p.L270M	NM_014294	NP_055109	Q15629	TRAM1_HUMAN	Homo sapiens translocation associated membrane protein 1 (TRAM1), mRNA.	301	TLC.				cotranslational protein targeting to membrane|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	17			Epithelial(68;0.00679)|all cancers(69;0.0324)|OV - Ovarian serous cystadenocarcinoma(28;0.0509)			ATGGATGCCAGAACAGCGATT	0.343000														20			14		4.36969e-10	5.24943e-10	1	1	0
CXCR4	7852	broad.mit.edu	37	2	136872919	136872919	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:136872919G>A	uc002tuz.3	-	1	674	c.579C>T	c.(577-579)gaC>gaT	p.D193D	CXCR4_uc002tuy.3_Silent_p.D197D|CXCR4_uc010fnk.3_Silent_p.D178D	NM_003467	NP_003458	P61073	CXCR4_HUMAN	Homo sapiens chemokine (C-X-C motif) receptor 4 (CXCR4), transcript variant 2, mRNA.	193	Involved in dimerization.				activation of MAPK activity|apoptosis|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|inflammatory response|initiation of viral infection|regulation of chemotaxis|response to hypoxia|response to virus	cell leading edge|cell surface|cytoplasmic membrane-bounded vesicle|integral to membrane|plasma membrane	C-X-C chemokine receptor activity|actin binding|coreceptor activity|myosin light chain binding|ubiquitin binding|ubiquitin protein ligase binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.155)	Framycetin(DB00452)	CCACCCACAAGTCATTGGGGT	0.493000														36			35		0	0	1	0	0
MTDH	92140	broad.mit.edu	37	8	98735147	98735147	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:98735147C>A	uc003yhz.3	+	10	1890	c.1562C>A	c.(1561-1563)tCt>tAt	p.S521Y	MTDH_uc010mbf.3_Non-coding_Transcript	NM_178812	NP_848927	Q86UE4	LYRIC_HUMAN	Homo sapiens metadherin (MTDH), mRNA.	521					lipopolysaccharide-mediated signaling pathway|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of angiogenesis|positive regulation of autophagy|positive regulation of protein kinase B signaling cascade	apical plasma membrane|endoplasmic reticulum membrane|integral to membrane|intercellular canaliculus|nuclear body|nuclear membrane|nucleolus|perinuclear region of cytoplasm|tight junction	NF-kappaB binding|RNA polymerase II transcription factor binding|transcription coactivator activity	p.S521F(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Breast(36;2.56e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.178)			ACCGAGCCATCTGTAATCTTA	0.353000														97			11		0.00136819	0.00144449	1	1	0
NAV3	89795	broad.mit.edu	37	12	78516178	78516178	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:78516178C>T	uc001syp.3	+	15	4381	c.4208C>T	c.(4207-4209)aCg>aTg	p.T1403M	NAV3_uc001syo.3_Missense_Mutation_p.T1403M|NAV3_uc010sub.2_Missense_Mutation_p.T903M|NAV3_uc009zsf.3_Intron	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	Homo sapiens neuron navigator 3 (NAV3), mRNA.	1403	Ser-rich.					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	p.T1403M(2)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CTCATGAGAACGGGTAGTGTG	0.552000										HNSCC(70;0.22)				76			14		0	0	1	0	0
PEX13	5194	broad.mit.edu	37	2	61258835	61258835	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:61258835G>A	uc002sau.4	+	1	457	c.374G>A	c.(373-375)aGc>aAc	p.S125N		NM_002618	NP_002609	Q92968	PEX13_HUMAN	Homo sapiens peroxisomal biogenesis factor 13 (PEX13), mRNA.	125					cerebral cortex cell migration|fatty acid alpha-oxidation|locomotory behavior|microtubule-based peroxisome localization|neuron migration|protein import into peroxisome matrix, docking|suckling behavior	integral to peroxisomal membrane|membrane fraction	protein binding			endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10			LUSC - Lung squamous cell carcinoma(5;2.05e-06)|Lung(5;3.13e-05)|Epithelial(17;0.114)			GCTGAAGAAAGCAGCAGGGGT	0.443000														72			41		0	0	1	0	0
GJA9	81025	broad.mit.edu	37	1	39340514	39340514	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:39340514C>T	uc021olr.1	-	0	1257	c.1257G>A	c.(1255-1257)ccG>ccA	p.P419P	RRAGC_uc001ccr.2_5'Flank|MYCBP_uc001ccs.3_5'Flank|MYCBP_uc021olq.1_Intron	NM_030772	NP_110399	P57773	CXA9_HUMAN	Homo sapiens gap junction protein, alpha 9, 59kDa (GJA9), mRNA.	419					cell communication	connexon complex|integral to membrane				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)			TAAGCCACCGCGGTTTCCAAT	0.507000														29			15		0	0	1	0	0
ACACB	32	broad.mit.edu	37	12	109673127	109673127	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:109673127C>A	uc001tob.3	+	31	4476	c.4357C>A	c.(4357-4359)Ctt>Att	p.L1453I	ACACB_uc001toc.3_Missense_Mutation_p.L1453I|ACACB_uc010sxl.1_Non-coding_Transcript|ACACB_uc001tod.3_Non-coding_Transcript|ACACB_uc010sxm.2_Missense_Mutation_p.L119I	NM_001093	NP_001084	O00763	ACACB_HUMAN	Homo sapiens acetyl-CoA carboxylase beta (ACACB), mRNA.	1453					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	Golgi apparatus|cytosol|endomembrane system|membrane	ATP binding|acetyl-CoA carboxylase activity|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	GAAAAATATCCTTGTGGATTA	0.403000														78			6		0.0381472	0.0388409	1	1	0
HUWE1	10075	broad.mit.edu	37	X	53654813	53654813	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:53654813G>A	uc004dsp.3	-	15	1662	c.1260C>T	c.(1258-1260)ggC>ggT	p.G420G		NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	Homo sapiens HECT, UBA and WWE domain containing 1 (HUWE1), mRNA.	420					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						CCTGTTCATCGCCAAGAAACT	0.393000														23			18		0	0	1	0	0
ARHGEF10L	55160	broad.mit.edu	37	1	17949529	17949529	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:17949529G>A	uc001ban.3	+	11	1218	c.1059G>A	c.(1057-1059)gcG>gcA	p.A353A	ARHGEF10L_uc009vpe.1_Silent_p.A314A|ARHGEF10L_uc001bao.3_Silent_p.A314A|ARHGEF10L_uc001bap.3_Silent_p.A314A|ARHGEF10L_uc010ocr.1_Silent_p.A111A|ARHGEF10L_uc001baq.3_Silent_p.A119A|ARHGEF10L_uc010ocs.2_Silent_p.A131A|ARHGEF10L_uc001bar.3_Silent_p.A131A|ARHGEF10L_uc009vpf.3_5'Flank	NM_018125	NP_060595	Q9HCE6	ARGAL_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 10-like (ARHGEF10L), transcript variant 1, mRNA.	353	DH.				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		AGCCCAAGGCGCTGAGCGCCC	0.677000														25			14		0	0	1	0	0
FLNB	2317	broad.mit.edu	37	3	58097997	58097997	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:58097997C>T	uc003djj.2	+	17	2862	c.2697C>T	c.(2695-2697)atC>atT	p.I899I	FLNB_uc010hne.2_Silent_p.I899I|FLNB_uc003djk.2_Silent_p.I899I|FLNB_uc010hnf.2_Silent_p.I899I|FLNB_uc003djl.2_Silent_p.I730I|FLNB_uc003djm.2_Silent_p.I730I	NM_001457	NP_001448	O75369	FLNB_HUMAN	Homo sapiens filamin B, beta (FLNB), transcript variant 2, mRNA.	899					actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		TGGATATCATCGATAATTATG	0.547000														57			34		0	0	1	0	0
C16orf71	146562	broad.mit.edu	37	16	4794893	4794893	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:4794893C>T	uc002cxn.3	+	5	1386	c.924C>T	c.(922-924)caC>caT	p.H308H		NM_139170	NP_631909	Q8IYS4	CP071_HUMAN	Homo sapiens chromosome 16 open reading frame 71 (C16orf71), mRNA.	308										breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)	11						CGAGCGCCCACAACAGGCTCA	0.622000														21			11		0	0	1	0	0
CCBL1	883	broad.mit.edu	37	9	131605002	131605002	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:131605002G>A	uc004bwh.3	-	2	317	c.132C>T	c.(130-132)gaC>gaT	p.D44D	CCBL1_uc004bwg.3_Non-coding_Transcript|CCBL1_uc010myn.3_Silent_p.D44D|CCBL1_uc004bwj.3_Silent_p.D44D|CCBL1_uc004bwi.3_Non-coding_Transcript|CCBL1_uc011mbl.2_Silent_p.D138D	NM_004059	NP_004050	Q16773	KAT1_HUMAN	Homo sapiens cysteine conjugate-beta lyase, cytoplasmic (CCBL1), transcript variant 1, mRNA.	44					L-phenylalanine catabolic process|kynurenine metabolic process|tryptophan catabolic process	cytosol|nucleus	1-aminocyclopropane-1-carboxylate synthase activity|L-glutamine:pyruvate aminotransferase activity|L-phenylalanine:pyruvate aminotransferase activity|cysteine-S-conjugate beta-lyase activity|glutamine-phenylpyruvate transaminase activity|kynurenine-oxoglutarate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)	18					L-Glutamine(DB00130)|Pyridoxal Phosphate(DB00114)	CCACGGCAAAGTCTGGTGGTG	0.532000														20			13		0	0	1	0	0
UGT2A3	79799	broad.mit.edu	37	4	69796420	69796420	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:69796420T>C	uc003hef.2	-	4	1179	c.1148A>G	c.(1147-1149)tAc>tGc	p.Y383C	UGT2A3_uc010ihp.1_Non-coding_Transcript	NM_024743	NP_079019	Q6UWM9	UD2A3_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A3 (UGT2A3), mRNA.	383						integral to membrane	glucuronosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GACCCCATGGTAAATAGCTTC	0.398000														51			11		0	0	1	0	0
KIAA0528	9847	broad.mit.edu	37	12	22680720	22680720	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:22680720G>T	uc010sit.2	-	3	512	c.284C>A	c.(283-285)cCt>cAt	p.P95H	KIAA0528_uc010sir.2_5'UTR|KIAA0528_uc010sis.2_Missense_Mutation_p.P95H|KIAA0528_uc001rfq.3_Missense_Mutation_p.P95H|KIAA0528_uc010siu.2_Missense_Mutation_p.P95H|KIAA0528_uc001rfr.3_Missense_Mutation_p.P95H|KIAA0528_uc009ziy.1_Missense_Mutation_p.P95H	NM_014802	NP_055617	Q86YS7	K0528_HUMAN	Homo sapiens KIAA0528 (KIAA0528), mRNA.	95							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						ATACAGTAAAGGATCAATATC	0.338000														81			7		9.70103e-10	1.16071e-09	1	1	0
CNDP2	55748	broad.mit.edu	37	18	72173218	72173218	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:72173218C>T	uc002llm.2	+	3	598	c.339C>T	c.(337-339)agC>agT	p.S113S	CNDP2_uc002lln.2_Intron|CNDP2_uc002llp.1_5'Flank	NM_018235	NP_060705	Q96KP4	CNDP2_HUMAN	Homo sapiens CNDP dipeptidase 2 (metallopeptidase M20 family) (CNDP2), transcript variant 1, mRNA.	113						cytoplasm	carboxypeptidase activity|metal ion binding|metallopeptidase activity|protein binding|tripeptidase activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(5)|ovary(2)|skin(2)|stomach(3)	24		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.22)		GCTGGGACAGCGAGCCCTTCA	0.617000														35			15		0	0	1	0	0
SCN2B	6327	broad.mit.edu	37	11	118037666	118037666	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:118037666T>C	uc001psf.2	-	3	775	c.584A>G	c.(583-585)gAc>gGc	p.D195G		NM_004588	NP_004579	O60939	SCN2B_HUMAN	Homo sapiens sodium channel, voltage-gated, type II, beta (SCN2B), mRNA.	195					synaptic transmission	voltage-gated sodium channel complex	voltage-gated sodium channel activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)	7	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.19e-05)|Epithelial(105;0.00117)		GGTCTTCAGGTCATCTGTGCT	0.612000														97			10		0	0	1	0	0
ZNF426	79088	broad.mit.edu	37	19	9639635	9639635	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9639635C>T	uc002mlq.3	-	7	1350	c.1086G>A	c.(1084-1086)aaG>aaA	p.K362K	ZNF426_uc010dws.3_Silent_p.K324K	NM_024106	NP_077011	Q9BUY5	ZN426_HUMAN	Homo sapiens zinc finger protein 426 (ZNF426), mRNA.	362					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20						ATTCATAGGGCTTGTCTCCAC	0.443000														35			18		0	0	1	0	0
IQSEC3	440073	broad.mit.edu	37	12	208364	208364	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:208364G>A	uc001qhw.2	+	1	607	c.607G>A	c.(607-609)Gac>Aac	p.D203N	IQSEC3_uc001qhu.1_5'UTR	NM_001170738	NP_001164209	Q9UPP2	IQEC3_HUMAN	Homo sapiens IQ motif and Sec7 domain 3 (IQSEC3), transcript variant 1, mRNA.	203					regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		CGCCTGCTCCGACCTGGCCTC	0.622000														6			5		0	0	1	0	0
XPO4	64328	broad.mit.edu	37	13	21395934	21395934	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:21395934G>A	uc001unq.4	-	8	1118	c.1082C>T	c.(1081-1083)aCt>aTt	p.T361I		NM_022459	NP_071904	Q9C0E2	XPO4_HUMAN	Homo sapiens exportin 4 (XPO4), mRNA.	361					protein transport	cytoplasm|nucleus	protein binding			breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		TGGAATGGCAGTTAAAACATT	0.433000														31			19		0	0	1	0	0
ARL10	285598	broad.mit.edu	37	5	175793460	175793460	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:175793460C>T	uc003meb.3	+	1	326	c.261C>T	c.(259-261)ggC>ggT	p.G87G	ARL10_uc003mec.1_Silent_p.G87G	NM_173664	NP_775935	Q8N8L6	ARL10_HUMAN	Homo sapiens ADP-ribosylation factor-like 10 (ARL10), mRNA.	87							GTP binding			endometrium(2)|lung(1)|ovary(1)	4	all_cancers(89;0.0064)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.0965)		GGCTGGATGGCGCAGGCAAGA	0.682000														12			9		0	0	1	0	0
RNF6	6049	broad.mit.edu	37	13	26788928	26788928	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:26788928T>C	uc001uqo.3	-	4	1436	c.1091A>G	c.(1090-1092)tAt>tGt	p.Y364C	RNF6_uc001uqn.1_Intron|RNF6_uc001uqp.3_Missense_Mutation_p.Y364C|RNF6_uc001uqq.3_Missense_Mutation_p.Y364C|RNF6_uc010tdk.2_Intron	NM_183044	NP_898865	Q9Y252	RNF6_HUMAN	Homo sapiens ring finger protein (C3H2C3 type) 6 (RNF6), transcript variant 3, mRNA.	364	Arg-rich.				negative regulation of axon extension|positive regulation of transcription, DNA-dependent|protein K27-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|regulation of androgen receptor signaling pathway|ubiquitin-dependent protein catabolic process	PML body|axon|cytoplasm	androgen receptor binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(3)|ovary(2)|prostate(2)|skin(2)	23	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245)		GAATGGGGTATATGCAGTACC	0.438000														55			4		0	0	1	0	0
GBP5	115362	broad.mit.edu	37	1	89729442	89729442	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:89729442G>A	uc001dnc.3	-	8	1876	c.1339C>T	c.(1339-1341)Cgg>Tgg	p.R447W	GBP5_uc001dnd.3_Missense_Mutation_p.R447W|GBP5_uc001dne.1_Missense_Mutation_p.R447W	NM_052942	NP_443174	Q96PP8	GBP5_HUMAN	Homo sapiens guanylate binding protein 5 (GBP5), transcript variant 1, mRNA.	447						plasma membrane	GTP binding|GTPase activity			breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		CGAGGCTCCCGATAGTACTTT	0.438000														128			38		0	0	1	0	0
SCG3	29106	broad.mit.edu	37	15	51984486	51984486	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:51984486T>C	uc002abh.3	+	6	1224	c.821T>C	c.(820-822)cTc>cCc	p.L274P	SCG3_uc010ufz.2_Missense_Mutation_p.L42P	NM_013243	NP_001158729	Q8WXD2	SCG3_HUMAN	Homo sapiens secretogranin III (SCG3), transcript variant 1, mRNA.	274				EEL -> RDF (in Ref. 1; AAD44483).	platelet activation|platelet degranulation	extracellular region|stored secretory granule				breast(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				all cancers(107;0.00488)		TTTGAGGAACTCCAATATTTC	0.383000														93			6		0	0	1	0	0
STAT1	6772	broad.mit.edu	37	2	191862734	191862734	+	Splice_Site	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:191862734C>T	uc010fse.2	-	8	1066	c.634_splice	c.e8-1	p.E212_splice	STAT1_uc021vue.1_Splice_Site_p.E24_splice|STAT1_uc002usj.2_Splice_Site_p.E212_splice|STAT1_uc002usk.2_Splice_Site_p.E212_splice|STAT1_uc002usl.2_Splice_Site_p.E214_splice|STAT1_uc010fsf.1_Splice_Site_p.E24_splice	NM_007315	NP_009330	P42224	STAT1_HUMAN	Homo sapiens signal transducer and activator of transcription 1, 91kDa (STAT1), transcript variant alpha, mRNA.	212					I-kappaB kinase/NF-kappaB cascade|activation of caspase activity|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|calcium ion binding|protein binding|signal transducer activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		Fludarabine(DB01073)	GAACTACTTCCTAAAGGCAAT	0.313000														49			4		0	0	1	0	0
PHAX	51808	broad.mit.edu	37	5	125939420	125939420	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:125939420G>T	uc003kua.2	+	1	303	c.255G>T	c.(253-255)caG>caT	p.Q85H		NM_032177	NP_115553	Q9H814	PHAX_HUMAN	Homo sapiens phosphorylated adaptor for RNA export (PHAX), mRNA.	85	Necessary for interaction with CBP80 (By similarity).				ncRNA metabolic process|protein transport|snRNA export from nucleus|spliceosomal snRNP assembly	Cajal body|cytosol	RNA binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	8						GCAAACGACAGAAATGTTTTA	0.423000														122			12		9.05144e-12	1.10939e-11	1	1	0
LOC100130331	100130331	broad.mit.edu	37	1	238090658	238090658	+	RNA	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:238090658G>A	uc010pyc.2	+	11		c.2164G>A								Homo sapiens POTE ankyrin domain family, member F pseudogene (LOC100130331), non-coding RNA.																		CCCACATGCCGTCCTGCATCT	0.632000														13			5		0	0	1	0	0
PRRC2A	7916	broad.mit.edu	37	6	31603042	31603042	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31603042G>A	uc003nvb.4	+	21	5543	c.5294G>A	c.(5293-5295)aGt>aAt	p.S1765N	PRRC2A_uc011dnv.1_Non-coding_Transcript|PRRC2A_uc003nvc.4_Missense_Mutation_p.S1765N	NM_080686	NP_542417	P48634	PRC2A_HUMAN	Homo sapiens proline-rich coiled-coil 2A (PRRC2A), transcript variant 1, mRNA.	1765	4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						TTTGGCACTAGTGACAAGGTC	0.577000														13			8		0	0	1	0	0
SFMBT2	57713	broad.mit.edu	37	10	7239607	7239607	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:7239607T>C	uc009xio.2	-	14	1692	c.1601A>G	c.(1600-1602)aAc>aGc	p.N534S	SFMBT2_uc001ijn.2_Missense_Mutation_p.N534S|SFMBT2_uc010qay.2_Intron	NM_001018039	NP_001018049	Q5VUG0	SMBT2_HUMAN	Homo sapiens Scm-like with four mbt domains 2 (SFMBT2), transcript variant 2, mRNA.	534					regulation of transcription, DNA-dependent	nucleus				NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						ACACCTGTGGTTGATGAAGAG	0.542000														57			6		0	0	1	0	0
LIMD1	8994	broad.mit.edu	37	3	45636938	45636938	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:45636938G>A	uc003coq.3	+	0	616	c.567G>A	c.(565-567)aaG>aaA	p.K189K		NM_014240	NP_055055	Q9UGP4	LIMD1_HUMAN	Homo sapiens LIM domains containing 1 (LIMD1), mRNA.	189					cytoplasmic mRNA processing body assembly|gene silencing by miRNA|multicellular organismal development|negative regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	RNA-induced silencing complex|cytoplasmic mRNA processing body|nucleus	protein binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.011)|KIRC - Kidney renal clear cell carcinoma(197;0.0264)|Kidney(197;0.0315)		CAAGCCCAAAGTGGGGTGACA	0.597000														61			7		0	0	1	0	0
TMEM60	85025	broad.mit.edu	37	7	77423538	77423538	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:77423538G>A	uc003ugn.3	-	1	380	c.153C>T	c.(151-153)gtC>gtT	p.V51V	TMEM60_uc022ago.1_Silent_p.V51V	NM_032936	NP_116325	Q9H2L4	TMM60_HUMAN	Homo sapiens transmembrane protein 60 (TMEM60), mRNA.	51						integral to membrane				endometrium(1)|large_intestine(1)|lung(2)	4						CAATCAGCAGGACAAGAAGGA	0.418000														57			22		0	0	1	0	0
CACNA1F	778	broad.mit.edu	37	X	49068444	49068444	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:49068444G>A	uc004dnb.3	-	34	4109	c.4047C>T	c.(4045-4047)ttC>ttT	p.F1349F	CACNA1F_uc010nip.3_Silent_p.F1338F	NM_005183	NP_005174	O60840	CAC1F_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1F subunit (CACNA1F), mRNA.	1349					axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	CCACCTTGCCGAACATCTGTG	0.502000														35			23		0	0	1	0	0
CEACAM7	1087	broad.mit.edu	37	19	42187995	42187995	+	Splice_Site	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:42187995C>T	uc002ori.1	-	3	430	c.428_splice	c.e3-1	p.S143_splice	CEACAM7_uc010ehx.2_Splice_Site_p.S143_splice|CEACAM7_uc010ehy.1_Intron	NM_006890	NP_008821	Q14002	CEAM7_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 7 (CEACAM7), mRNA.	143						anchored to membrane|integral to membrane|plasma membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)		GGTGGCTCCGCTGTGCAGATA	0.512000														62			31		0	0	1	0	0
CENPM	79019	broad.mit.edu	37	22	42341982	42341982	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:42341982G>T	uc003bbn.3	-	2	233	c.165C>A	c.(163-165)ccC>ccA	p.P55P	bK250D10.C22.8_uc003bba.1_Intron|CENPM_uc003bbo.3_Silent_p.P55P|CENPM_uc003bbp.1_Silent_p.P55P	NM_024053	NP_076958	Q9NSP4	CENPM_HUMAN	Homo sapiens centromere protein M (CENPM), transcript variant 1, mRNA.	55					mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleus				kidney(1)|large_intestine(1)|prostate(1)	3						TCACACTGGAGGGCAAAGGGA	0.522000														31			5		0.000602214	0.000641151	1	1	0
FGFBP2	83888	broad.mit.edu	37	4	15964500	15964500	+	Missense_Mutation	SNP	C	T	T	rs111244757		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:15964500C>T	uc003gon.3	-	0	360	c.253G>A	c.(253-255)Gct>Act	p.A85T	FGFBP2_uc021xmm.1_Missense_Mutation_p.A85T	NM_031950	NP_114156	Q9BYJ0	FGFP2_HUMAN	Homo sapiens fibroblast growth factor binding protein 2 (FGFBP2), mRNA.	85						extracellular space	growth factor binding			central_nervous_system(1)|lung(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	9						GGGTCAGCAGCGAAAGCCTGG	0.622000														22			15		0	0	1	0	0
FAT1	2195	broad.mit.edu	37	4	187524130	187524130	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:187524130G>A	uc003izf.3	-	19	11597	c.11409C>T	c.(11407-11409)tcC>tcT	p.S3803S		NM_005245	NP_005236	Q14517	FAT1_HUMAN	Homo sapiens FAT tumor suppressor homolog 1 (Drosophila) (FAT1), mRNA.	3803	EGF-like 1.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ACACACATTCGGATCCCTCAG	0.517000										HNSCC(5;0.00058)				54			39		0	0	1	0	0
MLL	4297	broad.mit.edu	37	11	118374387	118374387	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:118374387C>A	uc001pta.3	+	26	7794	c.7771C>A	c.(7771-7773)Ctt>Att	p.L2591I	MLL_uc001ptb.3_Missense_Mutation_p.L2594I	NM_005933	NP_005924	Q03164	MLL1_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) (MLL), transcript variant 2, mRNA.	2591					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding	p.N2590K(1)		breast(5)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(29)|lung(34)|ovary(6)|pancreas(3)|prostate(8)|skin(6)|urinary_tract(19)	131	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		CTATCAGAATCTTCCAGTACA	0.498000			"""T, O"""	"""MLL, MLLT1, MLLT2, MLLT3, MLLT4, MLLT7, MLLT10, MLLT6, ELL, EPS15, AF1Q, CREBBP, SH3GL1, FNBP1, PNUTL1, MSF, GPHN, GMPS, SSH3BP1, ARHGEF12, GAS7, FOXO3A, LAF4, LCX, SEPT6, LPP, CBFA2T1, GRAF, EP300, PICALM, HEAB"""	"""AML, ALL"""									36			11		6.40141e-05	6.99953e-05	1	1	0
TMIGD1	388364	broad.mit.edu	37	17	28656417	28656417	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:28656417C>A	uc002hfa.1	-	2	286	c.213G>T	c.(211-213)gaG>gaT	p.E71D	TMIGD1_uc010csh.1_Missense_Mutation_p.E71D	NM_206832	NP_996663	Q6UXZ0	TMIG1_HUMAN	Homo sapiens transmembrane and immunoglobulin domain containing 1 (TMIGD1), mRNA.	71	Ig-like C2-type 1.					integral to membrane				breast(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	12						CCACTCTCCCCTCCTCTCGGT	0.463000														58			15		3.45872e-05	3.81293e-05	1	1	0
WRN	7486	broad.mit.edu	37	8	30945300	30945300	+	Missense_Mutation	SNP	A	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:30945300A>T	uc003xio.4	+	11	2228	c.1440A>T	c.(1438-1440)gaA>gaT	p.E480D	WRN_uc011lbe.1_Missense_Mutation_p.E8D|WRN_uc010lvk.3_5'UTR	NM_000553	NP_000544	Q14191	WRN_HUMAN	Homo sapiens Werner syndrome, RecQ helicase-like (WRN), mRNA.	480					DNA recombination|DNA synthesis involved in DNA repair|base-excision repair|cellular response to starvation|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to UV-C|response to oxidative stress|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|G-quadruplex DNA binding|Y-form DNA binding|bubble DNA binding|four-way junction helicase activity|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		AGTCTTTAGAAAACCTCAATA	0.343000			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome					74			37		0	0	1	0	0
KIAA1522	57648	broad.mit.edu	37	1	33237550	33237550	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:33237550C>T	uc001bvu.1	+	5	2814	c.2770C>T	c.(2770-2772)Cct>Tct	p.P924S	KIAA1522_uc010ohm.1_Missense_Mutation_p.P876S|KIAA1522_uc001bvv.2_Missense_Mutation_p.P865S|KIAA1522_uc010ohn.1_Intron	NM_020888	NP_065939	Q9P206	K1522_HUMAN	Homo sapiens KIAA1522 (KIAA1522), transcript variant 1, mRNA.	865	Pro-rich.									breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				CAGCCCAGTGCCTGCCCCCTC	0.706000														7			4		0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158612619	158612619	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:158612619G>A	uc001fst.1	-	31	4789	c.4590C>T	c.(4588-4590)gaC>gaT	p.D1530D		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	1530					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TGTTAGTGGCGTCTTTGTAGG	0.433000														68			61		0	0	1	0	0
VCAN	1462	broad.mit.edu	37	5	82834120	82834120	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:82834120T>G	uc003kii.3	+	7	5654	c.5298T>G	c.(5296-5298)gaT>gaG	p.D1766E	VCAN_uc003kij.3_Missense_Mutation_p.D779E|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Missense_Mutation_p.D430E	NM_004385	NP_004376	P13611	CSPG2_HUMAN	Homo sapiens versican (VCAN), transcript variant 1, mRNA.	1766	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		CATCTAGTGATTCAGGTACCA	0.363000														61			31		0	0	1	0	0
ATP8B4	79895	broad.mit.edu	37	15	50279715	50279715	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:50279715C>A	uc001zxu.3	-	9	763	c.621G>T	c.(619-621)aaG>aaT	p.K207N	ATP8B4_uc010ber.3_Missense_Mutation_p.K80N|ATP8B4_uc010ufd.2_Missense_Mutation_p.K80N|ATP8B4_uc010ufe.2_Non-coding_Transcript	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN	Homo sapiens ATPase, class I, type 8B, member 4 (ATP8B4), mRNA.	207					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		ATTTATCTAACTTGTTGTTAG	0.403000														70			7		0.00198382	0.00208369	1	1	0
TECTA	7007	broad.mit.edu	37	11	120998824	120998824	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:120998824G>A	uc010rzo.2	+	7	2138	c.2138G>A	c.(2137-2139)tGc>tAc	p.C713Y		NM_005422	NP_005413	O75443	TECTA_HUMAN	Homo sapiens tectorin alpha (TECTA), mRNA.	713	VWFD 2.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GAGACCGTGTGCCTGCTCAGC	0.662000														36			27		0	0	1	0	0
SMAP2	64744	broad.mit.edu	37	1	40881994	40881994	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:40881994G>A	uc001cfj.3	+	7	1243	c.828G>A	c.(826-828)acG>acA	p.T276T	SMAP2_uc010ojh.2_Silent_p.T276T|SMAP2_uc001cfk.3_Silent_p.T246T|SMAP2_uc021oma.1_Silent_p.T271T|SMAP2_uc010oji.2_Silent_p.T196T|SMAP2_uc010ojj.2_Silent_p.T92T	NM_022733	NP_001185909	Q8WU79	SMAP2_HUMAN	Homo sapiens small ArfGAP2 (SMAP2), transcript variant 1, mRNA.	276					regulation of ARF GTPase activity	cytoplasm|nucleus	ARF GTPase activator activity|zinc ion binding	p.T276T(2)		central_nervous_system(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24	Lung NSC(20;1.56e-05)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.04e-17)			GATCCCAGACGCCTCAAATGC	0.458000														65			36		0	0	1	0	0
CELSR2	1952	broad.mit.edu	37	1	109803708	109803708	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:109803708G>T	uc001dxa.4	+	2	4064	c.4003G>T	c.(4003-4005)Ggt>Tgt	p.G1335C		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 2 (flamingo homolog, Drosophila) (CELSR2), mRNA.	1335	EGF-like 3; calcium-binding.				Wnt receptor signaling pathway|dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent	cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		TTGCACCCCGGGTGTCTGCAA	0.592000														84			20		2.21704e-12	2.7329e-12	1	1	0
XIRP1	165904	broad.mit.edu	37	3	39226380	39226380	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:39226380C>A	uc003cjk.2	-	1	4786	c.4557G>T	c.(4555-4557)gaG>gaT	p.E1519D	XIRP1_uc003cji.3_3'UTR|XIRP1_uc003cjj.3_Missense_Mutation_p.E202D|XIRP1_uc021wvz.1_Missense_Mutation_p.E1519D	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	Homo sapiens xin actin-binding repeat containing 1 (XIRP1), transcript variant 1, mRNA.	1519							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		CCACTGAGGCCTCGGGCTTTT	0.632000														35			30		8.53417e-09	1.00646e-08	1	1	0
SYNE1	23345	broad.mit.edu	37	6	152722419	152722419	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:152722419C>T	uc021zhb.1	-	44	7106	c.6883G>A	c.(6883-6885)Gca>Aca	p.A2295T	SYNE1_uc003qot.4_Missense_Mutation_p.A2302T|SYNE1_uc003qou.4_Missense_Mutation_p.A2295T|SYNE1_uc010kjb.1_Missense_Mutation_p.A2278T	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	2295					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	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)		GTTCCTTTTGCTACTTCAGTT	0.363000										HNSCC(10;0.0054)				56			29		0	0	1	0	0
ETV6	2120	broad.mit.edu	37	12	12037475	12037475	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:12037475G>A	uc001qzz.3	+	5	1380	c.1106G>A	c.(1105-1107)cGg>cAg	p.R369Q	ETV6_uc001raa.1_Intron	NM_001987	NP_001978	P41212	ETV6_HUMAN	Homo sapiens ets variant 6 (ETV6), mRNA.	369						cytoplasm|nucleolus	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.R369W(2)|p.R369L(2)	ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238)	breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)				AAAATATTCCGGATAGTGGAT	0.458000			T	"""NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5"""	"""congenital fibrosarcoma, multiple leukemia and lymphoma,  secretory breast, MDS, ALL"""									76			26		0	0	1	0	0
ROR1	4919	broad.mit.edu	37	1	64605866	64605866	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:64605866C>T	uc001dbj.2	+	5	1084	c.685C>T	c.(685-687)Cac>Tac	p.H229Y	ROR1_uc001dbi.4_Missense_Mutation_p.H229Y|AK096291_uc001dbl.3_Intron	NM_005012	NP_005003	Q01973	ROR1_HUMAN	Homo sapiens receptor tyrosine kinase-like orphan receptor 1 (ROR1), transcript variant 1, mRNA.	229	FZ.				transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|Wnt-protein binding|transmembrane receptor protein tyrosine kinase activity			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						TTCCCTGTGCCACTATGCCTT	0.463000														29			14		0	0	1	0	0
ANKRD54	129138	broad.mit.edu	37	22	38228688	38228688	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:38228688C>T	uc003auc.3	-	6	892	c.784G>A	c.(784-786)Gat>Aat	p.D262N	ANKRD54_uc003aud.3_Missense_Mutation_p.D139N	NM_138797	NP_620152	Q6NXT1	ANR54_HUMAN	Homo sapiens ankyrin repeat domain 54 (ANKRD54), transcript variant 1, mRNA.	262										lung(1)	1	Melanoma(58;0.045)					CAGAGGTCATCCAGGCGTTCT	0.612000														41			8		0	0	1	0	0
CHD5	26038	broad.mit.edu	37	1	6173015	6173015	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:6173015C>A	uc001amb.2	-	33	5067	c.4956G>T	c.(4954-4956)gaG>gaT	p.E1652D	CHD5_uc001alz.2_Missense_Mutation_p.E509D|CHD5_uc001ama.2_Non-coding_Transcript	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 5 (CHD5), mRNA.	1652					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		TCAAGCTCAGCTCCAGCTTGT	0.577000														46			29		2.85442e-18	3.65487e-18	1	1	0
COL8A2	1296	broad.mit.edu	37	1	36564678	36564678	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:36564678G>A	uc001bzv.2	-	1	611	c.604C>T	c.(604-606)Cga>Tga	p.R202*	COL8A2_uc001bzw.2_Nonsense_Mutation_p.R137*	NM_005202	NP_005193	P25067	CO8A2_HUMAN	Homo sapiens collagen, type VIII, alpha 2 (COL8A2), mRNA.	202	Triple-helical region.				angiogenesis|cell-cell adhesion|extracellular matrix organization	basement membrane|collagen	extracellular matrix structural constituent|protein binding, bridging			NS(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TTGAGGCCTCGATCACCTGGG	0.726000														4			3		0	0	1	0	0
PTBP3	9991	broad.mit.edu	37	9	114997178	114997178	+	Splice_Site	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:114997178C>A	uc004bfv.3	-	8	1088	c.905_splice	c.e8-1	p.G302_splice	MIR3134_uc022bma.1_Intron|PTBP3_uc004bfx.3_Splice_Site_p.G299_splice|PTBP3_uc004bfw.3_Splice_Site_p.G296_splice|PTBP3_uc011lwu.2_Splice_Site_p.G268_splice|PTBP3_uc004bfz.3_Splice_Site_p.G268_splice|PTBP3_uc004bfy.3_Splice_Site_p.G201_splice	NM_001244898	NP_001231827	O95758	ROD1_HUMAN	Homo sapiens polypyrimidine tract binding protein 3 (PTBP3), transcript variant 6, mRNA.	296					anatomical structure morphogenesis|mRNA processing	nucleus	RNA binding|nucleotide binding										CCCGGTGCACCTAATGGGAAA	0.378000														20			13		0.00244969	0.00257145	1	1	0
ZNF572	137209	broad.mit.edu	37	8	125989977	125989977	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:125989977T>C	uc003yrr.3	+	2	1622	c.1467T>C	c.(1465-1467)atT>atC	p.I489I		NM_152412	NP_689625	Q7Z3I7	ZN572_HUMAN	Homo sapiens zinc finger protein 572 (ZNF572), mRNA.	489					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	31	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			ATCGGAAAATTCACGTAGAAA	0.463000										HNSCC(60;0.17)				128			9		0	0	1	0	0
FBXO6	26270	broad.mit.edu	37	1	11733671	11733671	+	Splice_Site	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:11733671G>T	uc001aso.3	+	6	812	c.646_splice	c.e6-1	p.V216_splice		NM_018438	NP_060908	Q9NRD1	FBX6_HUMAN	Homo sapiens F-box protein 6 (FBXO6), mRNA.	216	FBA.				DNA damage checkpoint|DNA repair|ER-associated protein catabolic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|response to unfolded protein	SCF ubiquitin ligase complex|cytoplasm	glycoprotein binding			breast(1)|large_intestine(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(2)	6	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.25e-06)|COAD - Colon adenocarcinoma(227;0.000251)|BRCA - Breast invasive adenocarcinoma(304;0.000297)|Kidney(185;0.000747)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		CCTCCCAACAGGTCTCCTACA	0.642000														71			7		2.7689e-08	3.24273e-08	1	1	0
C1orf106	55765	broad.mit.edu	37	1	200877871	200877871	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:200877871G>A	uc001gvo.3	+	6	885	c.843G>A	c.(841-843)gtG>gtA	p.V281V	C1orf106_uc010ppm.2_Silent_p.V196V	NM_018265	NP_001136041	Q3KP66	CA106_HUMAN	Homo sapiens chromosome 1 open reading frame 106 (C1orf106), transcript variant 1, mRNA.	281										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						AATCCCAAGTGCCAAAACCTC	0.607000														161			15		0	0	1	0	0
PPP1R26	9858	broad.mit.edu	37	9	138378993	138378993	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:138378993G>A	uc022bpi.1	+	0	2637	c.2637G>A	c.(2635-2637)agG>agA	p.R879R	PPP1R26_uc004cfr.1_Silent_p.R879R	NM_014811	NP_055626	Q5T8A7	K0649_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 26 (PPP1R26), mRNA.	879						nucleolus	protein binding										TGCTGTGCAGGAAGGAGCCTG	0.672000														41			27		0	0	1	0	0
TKT	7086	broad.mit.edu	37	3	53262328	53262328	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:53262328A>G	uc003dgo.3	-	10	1615	c.1443T>C	c.(1441-1443)taT>taC	p.Y481Y	TKT_uc003dgp.2_Silent_p.Y113Y|TKT_uc011beo.1_Silent_p.Y434Y|TKT_uc003dgq.3_Silent_p.Y481Y|TKT_uc011beq.2_Silent_p.Y489Y|TKT_uc011ber.2_Silent_p.Y283Y	NM_001135055	NP_001128527	P29401	TKT_HUMAN	Homo sapiens transketolase (TKT), transcript variant 2, mRNA.	481					energy reserve metabolic process|xylulose biosynthetic process	cytosol	protein binding|transketolase activity			endometrium(5)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17		Prostate(884;0.0959)		BRCA - Breast invasive adenocarcinoma(193;0.000159)|OV - Ovarian serous cystadenocarcinoma(275;0.000314)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)	Thiamine(DB00152)	CATTGTTGTTATAGATGATGG	0.557000														28			20		0	0	1	0	0
MCM7	4176	broad.mit.edu	37	7	99695537	99695537	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:99695537C>A	uc003usw.1	-	7	1415	c.905G>T	c.(904-906)cGg>cTg	p.R302L	MCM7_uc003usv.1_Missense_Mutation_p.R126L|MCM7_uc003usx.1_Missense_Mutation_p.R126L	NM_005916	NP_005907	P33993	MCM7_HUMAN	Homo sapiens minichromosome maintenance complex component 7 (MCM7), transcript variant 1, mRNA.	302					DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint|regulation of phosphorylation|response to DNA damage stimulus	MCM complex|chromatin	ATP binding|protein binding			endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)				Atorvastatin(DB01076)	CTTCACAATCCGATGGGCTTC	0.522000														78			6		0.248553	0.249802	1	1	0
NCKAP5	344148	broad.mit.edu	37	2	133887564	133887564	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:133887564C>A	uc002ttp.3	-	5	701	c.327G>T	c.(325-327)caG>caT	p.Q109H	NCKAP5_uc002ttq.3_Missense_Mutation_p.Q109H|NCKAP5_uc002ttt.1_Missense_Mutation_p.Q109H|NCKAP5_uc002tts.1_Missense_Mutation_p.Q84H	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Homo sapiens NCK-associated protein 5 (NCKAP5), transcript variant 1, mRNA.	109							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						AGAACTGCTGCTGCAAGCTAC	0.483000														12			9		3.09899e-07	3.55757e-07	1	1	0
ZNF585A	199704	broad.mit.edu	37	19	37643484	37643484	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:37643484T>G	uc002ofo.1	-	4	1548	c.1317A>C	c.(1315-1317)aaA>aaC	p.K439N	ZNF585A_uc002ofm.1_Missense_Mutation_p.K384N|ZNF585A_uc002ofn.1_Missense_Mutation_p.K384N	NM_199126	NP_954577	Q6P3V2	Z585A_HUMAN	Homo sapiens zinc finger protein 585A (ZNF585A), transcript variant 2, mRNA.	439					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AGTGACCACATTTATGAGGTT	0.393000														137			7		0	0	1	0	0
AKAP12	9590	broad.mit.edu	37	6	151672950	151672950	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:151672950G>A	uc011eep.2	+	3	3664	c.3424G>A	c.(3424-3426)Gaa>Aaa	p.E1142K	AKAP12_uc003qoe.3_Missense_Mutation_p.E1142K|AKAP12_uc003qof.3_Missense_Mutation_p.E1044K|AKAP12_uc010kim.3_Intron|AKAP12_uc003qog.3_Missense_Mutation_p.E1037K	NM_005100	NP_005091	Q02952	AKA12_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 12 (AKAP12), transcript variant 1, mRNA.	1142					G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		TTGTCAAGCCGAAACCTTAGC	0.522000														45			8		0	0	1	0	0
LRFN4	78999	broad.mit.edu	37	11	66625615	66625615	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:66625615C>T	uc001ojr.3	+	0	740	c.400C>T	c.(400-402)Cgc>Tgc	p.R134C	PC_uc001ojo.1_Intron|PC_uc001ojp.1_Intron|PC_uc001ojn.1_Intron|LRFN4_uc001ojq.1_Missense_Mutation_p.R134C	NM_024036	NP_076941	Q6PJG9	LRFN4_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 4 (LRFN4), mRNA.	134						integral to membrane				breast(1)|lung(1)|prostate(1)	3						CCAGCTGGGCCGCATCGCGCC	0.687000														39			24		0	0	1	0	0
KIAA1211	57482	broad.mit.edu	37	4	57181557	57181557	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:57181557C>T	uc003hbk.2	+	7	2280	c.1889C>T	c.(1888-1890)gCg>gTg	p.A630V	KIAA1211_uc010iha.2_Missense_Mutation_p.A623V|KIAA1211_uc011bzz.1_Missense_Mutation_p.A540V|KIAA1211_uc003hbm.1_Missense_Mutation_p.A516V	NM_020722	NP_065773	Q6ZU35	K1211_HUMAN	Homo sapiens KIAA1211 (KIAA1211), mRNA.	630										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					AAGAAGCACGCGGAAGCCCCA	0.706000														15			6		0	0	1	0	0
ASPH	444	broad.mit.edu	37	8	62563619	62563619	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:62563619G>A	uc003xuj.3	-	4	749	c.480C>T	c.(478-480)caC>caT	p.H160H	ASPH_uc011leg.2_Silent_p.H131H|ASPH_uc003xuo.2_Silent_p.H160H|ASPH_uc003xul.3_Silent_p.H146H|ASPH_uc011lei.2_Silent_p.H146H|ASPH_uc011lej.2_Silent_p.H146H|ASPH_uc011leh.2_Silent_p.H146H|ASPH_uc003xum.3_Silent_p.H160H|ASPH_uc003xun.3_Silent_p.H160H|ASPH_uc011lek.2_Silent_p.H160H	NM_004318	NP_004309	Q12797	ASPH_HUMAN	Homo sapiens aspartate beta-hydroxylase (ASPH), transcript variant 1, mRNA.	160	Glu-rich.				muscle contraction	integral to endoplasmic reticulum membrane	calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle	p.V159I(1)		breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	CATGTTCTGCGTGTACCATTT	0.313000														56			30		0	0	1	0	0
DNMT1	1786	broad.mit.edu	37	19	10270410	10270410	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10270410G>A	uc002mng.3	-	15	1336	c.1156C>T	c.(1156-1158)Ctg>Ttg	p.L386L	DNMT1_uc010xlc.2_Silent_p.L402L|DNMT1_uc002mnh.3_Silent_p.L281L|DNMT1_uc010xld.2_Silent_p.L386L	NM_001379	NP_001370	P26358	DNMT1_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 1 (DNMT1), transcript variant 2, mRNA.	386	DNA replication foci-targeting sequence (By similarity).|Homodimerization.|Interaction with the PRC2/EED-EZH2 complex (By similarity).				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	AAGATGGACAGCTTCTCATTT	0.542000														49			32		0	0	1	0	0
PMS2	5395	broad.mit.edu	37	7	6026903	6026903	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:6026903C>A	uc003spl.3	-	10	1580	c.1493G>T	c.(1492-1494)aGc>aTc	p.S498I	PMS2_uc003spj.3_Missense_Mutation_p.S392I|PMS2_uc003spk.3_Missense_Mutation_p.S363I|PMS2_uc011jwl.2_Missense_Mutation_p.S363I|PMS2_uc010ktg.3_Missense_Mutation_p.S187I|PMS2_uc010kte.3_Intron|PMS2_uc010ktf.2_Missense_Mutation_p.S498I	NM_000535	NP_000526	P54278	PMS2_HUMAN	Homo sapiens PMS2 postmeiotic segregation increased 2 (S. cerevisiae) (PMS2), transcript variant 1, mRNA.	498					mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		CACGGAAGTGCTGCCGTGCCC	0.627000			"""Mis, N, F"""			"""colorectal, endometrial, ovarian, medulloblastoma, glioma"""		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome					102			7		8.12818e-05	8.84769e-05	1	1	0
TOP3B	8940	broad.mit.edu	37	22	22326279	22326279	+	Silent	SNP	G	A	A	rs41283235	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:22326279G>A	uc002zvs.3	-	4	789	c.354C>T	c.(352-354)tgC>tgT	p.C118C	TOP3B_uc002zvt.4_Silent_p.C118C|TOP3B_uc010gtl.3_Silent_p.C118C	NM_003935	NP_003926	O95985	TOP3B_HUMAN	Homo sapiens topoisomerase (DNA) III beta (TOP3B), mRNA.	118	Toprim.				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)		CCTCCTTGTCGCAGTCCAGCC	0.587000														22			9		0	0	1	0	0
RASEF	158158	broad.mit.edu	37	9	85640766	85640766	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:85640766G>A	uc004amo.1	-	1	763	c.502C>T	c.(502-504)Cat>Tat	p.H168Y		NM_152573	NP_689786	Q8IZ41	RASEF_HUMAN	Homo sapiens RAS and EF-hand domain containing (RASEF), mRNA.	168					protein transport|small GTPase mediated signal transduction	perinuclear region of cytoplasm	GTP binding|calcium ion binding			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						TTTATAACATGTTCATATGGC	0.358000														166			12		0	0	1	0	0
LCA5L	150082	broad.mit.edu	37	21	40795308	40795308	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:40795308A>G	uc002yxu.3	-	4	744	c.431T>C	c.(430-432)cTc>cCc	p.L144P	LCA5L_uc002yxv.3_Missense_Mutation_p.L144P|LCA5L_uc021wji.1_Missense_Mutation_p.L6P|LCA5L_uc002yxw.2_Missense_Mutation_p.L144P|LCA5L_uc002yxy.3_Non-coding_Transcript	NM_152505	NP_689718	O95447	LCA5L_HUMAN	Homo sapiens Leber congenital amaurosis 5-like (LCA5L), mRNA.	144										breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	24		Prostate(19;1.2e-06)				CCTTGCTGAGAGTATTCGATG	0.338000														56			31		0	0	1	0	0
CLCN2	1181	broad.mit.edu	37	3	184070836	184070836	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:184070836C>T	uc003foi.3	-	17	2252	c.2128G>A	c.(2128-2130)Gga>Aga	p.G710R	CLCN2_uc003foh.3_Missense_Mutation_p.G234R|CLCN2_uc010hya.2_Missense_Mutation_p.G693R|CLCN2_uc011brl.2_Missense_Mutation_p.G710R|CLCN2_uc011brm.2_Missense_Mutation_p.G666R	NM_004366	NP_004357	P51788	CLCN2_HUMAN	Homo sapiens chloride channel 2 (CLCN2), transcript variant 1, mRNA.	710						chloride channel complex	voltage-gated chloride channel activity			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	GGACTCTCTCCGAGGTTCCTG	0.607000														86			62		0	0	1	0	0
IL16	3603	broad.mit.edu	37	15	81517878	81517878	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:81517878G>T	uc021ssh.1	+	0	239	c.138G>T	c.(136-138)gaG>gaT	p.E46D	IL16_uc002bgc.2_Non-coding_Transcript|IL16_uc010blq.1_Missense_Mutation_p.E46D|IL16_uc002bge.4_Non-coding_Transcript|IL16_uc010unp.2_Missense_Mutation_p.E88D|IL16_uc021ssg.1_Missense_Mutation_p.E46D|IL16_uc002bgg.3_Missense_Mutation_p.E46D	NM_172217	NP_757366	Q14005	IL16_HUMAN	Homo sapiens interleukin 16 (IL16), transcript variant 2, mRNA.	46					immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						ATCCCTTTGAGATTTCCTTGG	0.522000														42			18		8.28177e-16	1.04585e-15	1	1	0
MTHFR	4524	broad.mit.edu	37	1	11856453	11856453	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:11856453T>C	uc001atb.1	-	3	857	c.659A>G	c.(658-660)tAc>tGc	p.Y220C	MTHFR_uc001atc.2_Missense_Mutation_p.Y197C	NM_005957	NP_005948	P42898	MTHR_HUMAN	Homo sapiens methylenetetrahydrofolate reductase (NAD(P)H) (MTHFR), mRNA.	197					blood circulation|folic acid metabolic process	cytosol	methylenetetrahydrofolate reductase (NADPH) activity|protein binding			NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|Raltitrexed(DB00293)|Riboflavin(DB00140)|S-Adenosylmethionine(DB00118)|Tetrahydrofolic acid(DB00116)	GCCTTTGGGGTAACCTGCCAA	0.572000														128			9		0	0	1	0	0
KBTBD10	10324	broad.mit.edu	37	2	170344594	170344594	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:170344594G>T	uc010zdh.1	+	4	414	c.356G>T	c.(355-357)aGa>aTa	p.R119I	KBTBD10_uc002uet.3_Missense_Mutation_p.R119I|KBTBD10_uc010fpw.3_Missense_Mutation_p.R119I	NM_152384	NP_689597	O60662	KBTBA_HUMAN	Homo sapiens Bardet-Biedl syndrome 5 (BBS5), mRNA.	0					striated muscle contraction	centrosome|nucleolus|plasma membrane|pseudopodium|ruffle				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|urinary_tract(1)	19						GGAAGCCCTAGACTTTTTACT	0.338000														55			39		6.04917e-29	7.96686e-29	1	1	0
EPHA7	2045	broad.mit.edu	37	6	94120584	94120584	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:94120584G>A	uc003poe.3	-	2	708	c.467C>T	c.(466-468)aCc>aTc	p.T156I	EPHA7_uc003pof.3_Missense_Mutation_p.T156I|EPHA7_uc011eac.2_Missense_Mutation_p.T156I|EPHA7_uc003pog.4_Missense_Mutation_p.T156I	NM_004440	NP_004431	Q15375	EPHA7_HUMAN	Homo sapiens EPH receptor A7 (EPHA7), mRNA.	156						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		GTCACCTTGGGTAAAACTTTC	0.373000														67			40		0	0	1	0	0
CAPN3	825	broad.mit.edu	37	15	42681142	42681142	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:42681142G>A	uc001zpn.1	+	4	955	c.649G>A	c.(649-651)Gaa>Aaa	p.E217K	CAPN3_uc001zpk.1_5'UTR|CAPN3_uc001zpl.1_Missense_Mutation_p.E130K|CAPN3_uc010udf.1_Missense_Mutation_p.E130K|CAPN3_uc010udg.1_Missense_Mutation_p.E130K|CAPN3_uc001zpo.1_Missense_Mutation_p.E217K|CAPN3_uc001zpp.1_Missense_Mutation_p.E217K	NM_000070	NP_000061	P20807	CAN3_HUMAN	Homo sapiens calpain 3, (p94) (CAPN3), transcript variant 1, mRNA.	217	Calpain catalytic.		E -> K (in LGMD2A).|Missing (in LGMD2A).		muscle organ development|proteolysis	cytoplasm	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		TGGTTCCTACGAAGCTCTGAA	0.507000														80			39		0	0	1	0	0
SLC41A3	54946	broad.mit.edu	37	3	125741743	125741743	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:125741743G>A	uc003eij.3	-	5	857	c.631C>T	c.(631-633)Cga>Tga	p.R211*	SLC41A3_uc003eii.3_Nonsense_Mutation_p.R185*|SLC41A3_uc003eil.3_Nonsense_Mutation_p.R211*|SLC41A3_uc003eik.3_Nonsense_Mutation_p.R175*|SLC41A3_uc011bkh.2_Nonsense_Mutation_p.R94*|SLC41A3_uc010hsd.1_Nonsense_Mutation_p.R226*	NM_001008485	NP_001008485	Q96GZ6	S41A3_HUMAN	Homo sapiens solute carrier family 41, member 3 (SLC41A3), transcript variant 1, mRNA.	211						integral to membrane|plasma membrane	cation transmembrane transporter activity			breast(1)|endometrium(4)|large_intestine(6)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18				GBM - Glioblastoma multiforme(114;0.167)		CCGAGCTTTCGAGCACCAATC	0.547000														68			53		0	0	1	0	0
G3BP1	10146	broad.mit.edu	37	5	151179873	151179873	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:151179873A>G	uc003lun.3	+	9	1221	c.1050A>G	c.(1048-1050)gaA>gaG	p.E350E	G3BP1_uc003lum.3_Silent_p.E350E|G3BP1_uc011dcu.2_Silent_p.E168E|G3BP1_uc010jhz.3_Silent_p.E168E|G3BP1_uc003luq.3_Silent_p.E18E	NM_005754	NP_938405	Q13283	G3BP1_HUMAN	Homo sapiens GTPase activating protein (SH3 domain) binding protein 1 (G3BP1), transcript variant 1, mRNA.	350	RRM.				Ras protein signal transduction|transport	cytosol|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|RNA binding|endonuclease activity|protein binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|skin(3)|urinary_tract(2)	29		all_hematologic(541;0.0338)|Medulloblastoma(196;0.091)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)			TGCCTCATGAAGTGGACAAAT	0.433000														65			6		0	0	1	0	0
HMGB4	127540	broad.mit.edu	37	1	34330140	34330140	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:34330140G>A	uc021oky.1	+	0	348	c.348G>A	c.(346-348)ccG>ccA	p.P116P	CSMD2_uc001bxm.1_Intron|CSMD2_uc001bxn.1_Intron|HMGB4_uc001bxp.3_Silent_p.P116P|HMGB4_uc001bxq.3_Silent_p.P42P	NM_145205	NP_660206	B2R4X7	B2R4X7_HUMAN	Homo sapiens high mobility group box 4 (HMGB4), transcript variant 1, mRNA.	116						nucleus	DNA binding	p.P116P(2)		NS(1)|breast(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				GGGAGAACCCGAACTGGTCGG	0.567000														64			39		0	0	1	0	0
PAX8	7849	broad.mit.edu	37	2	113993142	113993142	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:113993142C>T	uc010yxt.2	-	8	1082	c.916G>A	c.(916-918)Gcc>Acc	p.A306T	PAX8_uc010yxu.2_Intron|PAX8_uc002tjm.3_Intron|PAX8_uc002tjn.3_Intron|LOC654433_uc002tjp.2_Non-coding_Transcript|LOC654433_uc002tjq.4_Non-coding_Transcript|LOC654433_uc010fks.3_Non-coding_Transcript|LOC654433_uc010fkt.3_Non-coding_Transcript|LOC654433_uc002tjr.4_5'Flank	NM_003466	NP_003457	Q06710	PAX8_HUMAN	Homo sapiens paired box 8 (PAX8), transcript variant PAX8A, mRNA.	306					branching involved in ureteric bud morphogenesis|cellular response to gonadotropin stimulus|central nervous system development|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|metanephric S-shaped body morphogenesis|metanephric collecting duct development|metanephric comma-shaped body morphogenesis|metanephric distal convoluted tubule development|metanephric nephron tubule formation|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|otic vesicle development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric field specification|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of thyroid-stimulating hormone secretion|thyroid gland development|transcription, DNA-dependent	nucleoplasm	RNA polymerase II core promoter sequence-specific DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|thyroid-stimulating hormone receptor activity		PAX8/PPARG(117)	breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|skin(1)	20						TGCTTTATGGCGAAGGGTGAG	0.592000			T	PPARG	follicular thyroid		Thyroid dysgenesis							19			8		0	0	1	0	0
FKBPL	63943	broad.mit.edu	37	6	32097545	32097545	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:32097545G>A	uc003nzr.3	-	1	283	c.13C>T	c.(13-15)Cca>Tca	p.P5S	ATF6B_uc003nzn.3_5'Flank|ATF6B_uc003nzo.3_5'Flank|ATF6B_uc011dpg.2_5'Flank|ATF6B_uc011dph.2_5'Flank|FKBPL_uc021yvh.1_Missense_Mutation_p.P5S	NM_022110	NP_071393	Q9UIM3	FKBPL_HUMAN	Homo sapiens FK506 binding protein like (FKBPL), mRNA.	5					response to radiation	membrane|nucleus	FK506 binding|peptidyl-prolyl cis-trans isomerase activity										GTATTGACTGGTGGCGTCTCC	0.473000														15			11		0	0	1	0	0
OR10J3	441911	broad.mit.edu	37	1	159284386	159284386	+	Missense_Mutation	SNP	G	A	A	rs150299321		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:159284386G>A	uc010piu.2	-	0	64	c.64C>T	c.(64-66)Cgg>Tgg	p.R22W		NM_001004467	NP_001004467	Q5JRS4	O10J3_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily J, member 3 (OR10J3), mRNA.	22					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R22Q(1)|p.R22L(1)		breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					TTGTGCTGCCGCCTGAAGCTG	0.453000														128			85		0	0	1	0	0
ZNF366	167465	broad.mit.edu	37	5	71739619	71739619	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:71739619C>T	uc003kce.1	-	4	2385	c.2199G>A	c.(2197-2199)agG>agA	p.R733R		NM_152625	NP_689838	Q8N895	ZN366_HUMAN	Homo sapiens zinc finger protein 366 (ZNF366), mRNA.	733					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		TTTCCATTTTCCTCTCCAGTA	0.398000														58			8		0	0	1	0	0
MGAT1	4245	broad.mit.edu	37	5	180218899	180218899	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:180218899A>G	uc003mmg.4	-	1	1568	c.1073T>C	c.(1072-1074)tTc>tCc	p.F358S	MGAT1_uc010jlf.3_Missense_Mutation_p.F358S|MGAT1_uc010jlg.3_Missense_Mutation_p.F358S|MGAT1_uc003mmh.4_Missense_Mutation_p.F358S|MGAT1_uc010jlh.3_Missense_Mutation_p.F358S|MGAT1_uc003mmi.4_Missense_Mutation_p.F358S|MGAT1_uc021yjn.1_Missense_Mutation_p.F358S	NM_002406	NP_002397	P26572	MGAT1_HUMAN	Homo sapiens mannosyl (alpha-1,3-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase (MGAT1), transcript variant 2, mRNA.	358					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|metal ion binding			endometrium(1)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	13	all_cancers(89;1.11e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00356)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCGGGCGAGGAAATCTCGGTC	0.587000														60			4		0	0	1	0	0
PRKD2	25865	broad.mit.edu	37	19	47193909	47193909	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:47193909C>T	uc002pfh.3	-	13	2099	c.1757G>A	c.(1756-1758)cGc>cAc	p.R586H	PRKD2_uc010eks.3_5'UTR|PRKD2_uc010ekt.3_5'UTR|PRKD2_uc002pfg.3_Missense_Mutation_p.R429H|PRKD2_uc002pfi.3_Missense_Mutation_p.R586H|PRKD2_uc002pfj.3_Missense_Mutation_p.R586H|PRKD2_uc010xye.2_Missense_Mutation_p.R586H|PRKD2_uc002pfk.3_Missense_Mutation_p.R429H	NM_001079881	NP_001073351	Q9BZL6	KPCD2_HUMAN	Homo sapiens protein kinase D2 (PRKD2), transcript variant 3, mRNA.	586	Protein kinase.				T cell receptor signaling pathway|cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein kinase C activity			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		GGTAGGGAAGCGCAGTTTGTC	0.562000														41			15		0	0	1	0	0
TIAM1	7074	broad.mit.edu	37	21	32502548	32502548	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:32502548C>T	uc002yow.1	-	25	4500	c.4028G>A	c.(4027-4029)cGa>cAa	p.R1343Q	TIAM1_uc011adk.1_Missense_Mutation_p.R1343Q|TIAM1_uc011adl.1_Missense_Mutation_p.R1283Q	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	Homo sapiens T-cell lymphoma invasion and metastasis 1 (TIAM1), mRNA.	1343	PH 2.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	Rho guanyl-nucleotide exchange factor activity|receptor signaling protein activity	p.R1343L(3)|p.R1343*(1)		autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						CGCCAAAGCTCGAACCTGCAG	0.483000														163			76		0	0	1	0	0
RHOU	58480	broad.mit.edu	37	1	228873420	228873420	+	Splice_Site	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:228873420C>T	uc001htf.3	+	2	929	c.263_splice	c.e2-1	p.A88_splice	RHOU_uc021pkj.1_Splice_Site	NM_021205	NP_067028	Q7L0Q8	RHOU_HUMAN	Homo sapiens ras homolog gene family, member U (RHOU), transcript variant 1, mRNA.	88					regulation of small GTPase mediated signal transduction	Golgi membrane|cell projection|cytosol|focal adhesion|podosome	GTP binding|metal ion binding|protein binding	p.A88E(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|stomach(1)	13	Breast(184;0.162)	Prostate(94;0.183)				TGTTTTTAAGCGGTGGTGTCT	0.473000														46			9		0	0	1	0	0
CASD1	64921	broad.mit.edu	37	7	94175012	94175012	+	Splice_Site	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:94175012C>T	uc003uni.4	+	12	1860	c.1633_splice	c.e12+1	p.G545_splice	CASD1_uc003unj.4_Splice_Site_p.G545_splice	NM_022900	NP_075051	Q96PB1	CASD1_HUMAN	Homo sapiens CAS1 domain containing 1 (CASD1), mRNA.	545						integral to membrane				NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	31	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			AAAAAGCAAACGGTAAATATA	0.284000														17			23		0	0	1	0	0
GPBP1L1	60313	broad.mit.edu	37	1	46099286	46099286	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:46099286T>C	uc001coq.3	-	9	2280	c.919A>G	c.(919-921)Agc>Ggc	p.S307G	GPBP1L1_uc001coo.3_Missense_Mutation_p.S51G	NM_021639	NP_067652	Q9HC44	GPBL1_HUMAN	Homo sapiens GC-rich promoter binding protein 1-like 1 (GPBP1L1), mRNA.	307					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding		GPBP1L1/MAST2_ENST00000361297(2)	breast(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|stomach(1)	21	Acute lymphoblastic leukemia(166;0.155)					CGAGAGGAGCTGATCTCAATT	0.517000														18			12		0	0	1	0	0
PHACTR4	65979	broad.mit.edu	37	1	28793148	28793148	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:28793148C>T	uc001bpy.3	+	4	957	c.722C>T	c.(721-723)cCc>cTc	p.P241L	PHACTR4_uc001bpu.3_Missense_Mutation_p.P231L|PHACTR4_uc001bpv.1_Non-coding_Transcript|PHACTR4_uc001bpw.3_Missense_Mutation_p.P231L|PHACTR4_uc001bpx.3_Missense_Mutation_p.P215L	NM_023923	NP_076412	Q8IZ21	PHAR4_HUMAN	Homo sapiens phosphatase and actin regulator 4 (PHACTR4), transcript variant 2, mRNA.	231	Pro-rich.						actin binding|protein phosphatase inhibitor activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		TCCCCAGCACCCAGGACTCTG	0.577000														17			11		0	0	1	0	0
ZNF292	23036	broad.mit.edu	37	6	87966302	87966302	+	Silent	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:87966302T>G	uc003plm.4	+	7	2996	c.2955T>G	c.(2953-2955)ggT>ggG	p.G985G		NM_015021	NP_055836	O60281	ZN292_HUMAN	Homo sapiens zinc finger protein 292 (ZNF292), mRNA.	985					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		GTCATCCAGGTTTCCAGGAGA	0.403000														49			37		0	0	1	0	0
WDR75	84128	broad.mit.edu	37	2	190340124	190340124	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:190340124G>A	uc002uql.1	+	20	2534	c.2474G>A	c.(2473-2475)aGc>aAc	p.S825N	WDR75_uc002uqm.1_Missense_Mutation_p.S761N|WDR75_uc002uqn.1_Missense_Mutation_p.S603N	NM_032168	NP_115544	Q8IWA0	WDR75_HUMAN	Homo sapiens WD repeat domain 75 (WDR75), mRNA.	825						nucleolus				breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456)			ATAGACTACAGCTGGATAGCT	0.348000														17			6		0	0	1	0	0
FPR2	2358	broad.mit.edu	37	19	52272593	52272593	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:52272593A>C	uc002pxr.3	+	1	727	c.682A>C	c.(682-684)Atc>Ctc	p.I228L	FPR2_uc002pxs.4_Missense_Mutation_p.I228L|FPR2_uc010epf.3_Missense_Mutation_p.I228L|FPR2_uc021uyp.1_Missense_Mutation_p.I228L	NM_001005738	NP_001453	P25090	FPR2_HUMAN	Homo sapiens formyl peptide receptor 2 (FPR2), transcript variant 2, mRNA.	228					cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity	p.I228I(1)		endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						TGCAGCCAAGATCCACAAAAA	0.493000														24			23		0	0	1	0	0
MYO7A	4647	broad.mit.edu	37	11	76893070	76893070	+	Missense_Mutation	SNP	A	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:76893070A>T	uc001oyb.2	+	23	3250	c.2978A>T	c.(2977-2979)gAg>gTg	p.E993V	MYO7A_uc010rsl.2_Missense_Mutation_p.E993V|MYO7A_uc010rsm.1_Missense_Mutation_p.E982V|MYO7A_uc001oyc.2_Missense_Mutation_p.E993V|MYO7A_uc001oyd.3_Missense_Mutation_p.E333V|MYO7A_uc009yus.1_Non-coding_Transcript|MYO7A_uc009yut.1_Missense_Mutation_p.E204V	NM_000260	NP_000251	Q13402	MYO7A_HUMAN	Homo sapiens myosin VIIA (MYO7A), transcript variant 1, mRNA.	993					actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	ATP binding|actin binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GACGAGGATGAGGAGGACCTC	0.612000														53			7		0	0	1	0	0
GRM1	2911	broad.mit.edu	37	6	146755570	146755570	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:146755570C>A	uc010khw.1	+	8	3693	c.3223C>A	c.(3223-3225)Ctg>Atg	p.L1075M	GRM1_uc010khv.1_3'UTR|GRM1_uc003qll.2_3'UTR|GRM1_uc011edz.1_3'UTR|GRM1_uc011eea.1_3'UTR	NM_000838	NP_000829	Q13255	GRM1_HUMAN	Homo sapiens glutamate receptor, metabotropic 1 (GRM1), transcript variant 1, mRNA.	1075	Gln/Pro-rich.				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	TCCGCAGCACCTGCAGATGCT	0.692000														51			5		0.014758	0.0151755	1	1	0
WAC	51322	broad.mit.edu	37	10	28872387	28872387	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:28872387T>C	uc001iuf.3	+	3	422	c.334T>C	c.(334-336)Tca>Cca	p.S112P	WAC_uc001iud.3_Missense_Mutation_p.S67P|WAC_uc001iue.3_Intron|WAC_uc009xlb.3_Missense_Mutation_p.S67P|WAC_uc001iug.3_Missense_Mutation_p.S112P|WAC_uc001iuh.3_Missense_Mutation_p.S67P	NM_016628	NP_057712	Q9BTA9	WAC_HUMAN	Homo sapiens WW domain containing adaptor with coiled-coil (WAC), transcript variant 1, mRNA.	112					cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nuclear speck	RNA polymerase II core binding|chromatin binding			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						TAGTTCAAATTCACATTCTTC	0.318000														106			57		0	0	1	0	0
ZNF28	7576	broad.mit.edu	37	19	53304598	53304598	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:53304598G>T	uc002qad.3	-	3	657	c.500C>A	c.(499-501)tCt>tAt	p.S167Y	ZNF28_uc002qac.3_Missense_Mutation_p.S113Y|ZNF28_uc010eqe.3_Missense_Mutation_p.S113Y|ZNF28_uc021uza.1_Missense_Mutation_p.S114Y	NM_006969	NP_008900	P17035	ZNF28_HUMAN	Homo sapiens zinc finger protein 28 (ZNF28), transcript variant 1, mRNA.	167					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		ATTGTTGATAGACTTCTCAAC	0.368000														172			55		7.89702e-26	1.03498e-25	1	1	0
RPAP2	79871	broad.mit.edu	37	1	92789215	92789215	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:92789215C>T	uc001dot.2	+	7	847	c.738C>T	c.(736-738)agC>agT	p.S246S	RPAP2_uc009wdh.2_Non-coding_Transcript	NM_024813	NP_079089	Q8IXW5	RPAP2_HUMAN	Homo sapiens RNA polymerase II associated protein 2 (RPAP2), mRNA.	246						integral to membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	22		all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222)		all cancers(265;0.00647)|GBM - Glioblastoma multiforme(16;0.0234)|Epithelial(280;0.115)		ACCAAAAAAGCATAATGAAAA	0.393000														91			8		0	0	1	0	0
SLC22A7	10864	broad.mit.edu	37	6	43270068	43270068	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:43270068C>T	uc021yzt.1	+	7	1291	c.1192C>T	c.(1192-1194)Cgc>Tgc	p.R398C	SLC22A7_uc010jyl.1_Missense_Mutation_p.R399C|SLC22A7_uc003ous.3_Missense_Mutation_p.R396C|SLC22A7_uc003out.3_Missense_Mutation_p.R396C	NM_153320	NP_696961	Q9Y694	S22A7_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 7 (SLC22A7), transcript variant 2, mRNA.	398						basolateral plasma membrane|integral to plasma membrane|membrane fraction	anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity	p.R398C(2)		NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)			CTTGTCGGTGCGCTACGCAGG	0.637000														19			6		0	0	1	0	0
PER3	8863	broad.mit.edu	37	1	7887550	7887550	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:7887550C>A	uc001aop.3	+	16	2785	c.2561C>A	c.(2560-2562)aCt>aAt	p.T854N	PER3_uc009vmg.1_Missense_Mutation_p.T854N|PER3_uc009vmh.1_Missense_Mutation_p.T847N|PER3_uc001aoo.3_Missense_Mutation_p.T846N|PER3_uc010nzw.2_Missense_Mutation_p.T535N	NM_016831	NP_058515	P56645	PER3_HUMAN	Homo sapiens period homolog 3 (Drosophila) (PER3), mRNA.	846	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		TACTTGGATACTTTTATGACC	0.567000														186			14		0.000958276	0.00101866	1	1	0
SEZ6	124925	broad.mit.edu	37	17	27285122	27285122	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:27285122C>A	uc002hdp.2	-	10	2339	c.2145G>T	c.(2143-2145)gaG>gaT	p.E715D	SEZ6_uc002hdm.2_Non-coding_Transcript|SEZ6_uc010cry.1_Missense_Mutation_p.E715D|SEZ6_uc002hdq.1_Missense_Mutation_p.E590D	NM_178860	NP_849191	Q53EL9	SEZ6_HUMAN	Homo sapiens seizure related 6 homolog (mouse) (SEZ6), transcript variant 1, mRNA.	715	Sushi 3.					integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			CATTGGGGATCTCAGGCAGCT	0.622000														58			16		2.4624e-09	2.92908e-09	1	1	0
SPATA5	166378	broad.mit.edu	37	4	123900516	123900516	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:123900516G>T	uc003iez.4	+	9	1917	c.1844G>T	c.(1843-1845)aGg>aTg	p.R615M	SPATA5_uc003iey.3_Missense_Mutation_p.R614M	NM_145207	NP_660208	Q8NB90	SPAT5_HUMAN	Homo sapiens spermatogenesis associated 5 (SPATA5), mRNA.	615					cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						AGTGCCATGAGGGAAATAGCA	0.413000														119			7		0.00198382	0.00208369	1	1	0
FAM186B	84070	broad.mit.edu	37	12	49992709	49992709	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:49992709T>C	uc001ruo.3	-	4	2366	c.2193A>G	c.(2191-2193)gtA>gtG	p.V731V	FAM186B_uc010smk.2_Silent_p.V641V	NM_032130	NP_115506	Q8IYM0	F186B_HUMAN	Homo sapiens family with sequence similarity 186, member B (FAM186B), transcript variant 1, mRNA.	731						protein complex				breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TCATGATTTGTACATGGTTGA	0.507000														39			7		0	0	1	0	0
CLNK	116449	broad.mit.edu	37	4	10560053	10560053	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:10560053G>A	uc003gmo.4	-	7	560	c.423C>T	c.(421-423)gaC>gaT	p.D141D	CLNK_uc003gmp.3_Silent_p.D99D	NM_052964	NP_443196	Q7Z7G1	CLNK_HUMAN	Homo sapiens cytokine-dependent hematopoietic cell linker (CLNK), mRNA.	141					immune response|intracellular signal transduction	intracellular	SH3/SH2 adaptor activity			NS(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)	17						GGCTTCTGACGTCCTTGGAAA	0.383000														93			7		0	0	1	0	0
CCDC85A	114800	broad.mit.edu	37	2	56419887	56419887	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:56419887C>T	uc002rzn.3	+	1	1054	c.552C>T	c.(550-552)cgC>cgT	p.R184R	CCDC85A_uc021vhw.1_Intron	NM_001080433	NP_001073902	Q96PX6	CC85A_HUMAN	Homo sapiens coiled-coil domain containing 85A (CCDC85A), mRNA.	184										breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			CAGGCAGCCGCTGCTCCATCG	0.622000														35			9		0	0	1	0	0
RABEPK	10244	broad.mit.edu	37	9	127990304	127990304	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:127990304C>T	uc004bpi.3	+	6	811	c.642C>T	c.(640-642)gaC>gaT	p.D214D	RABEPK_uc004bpj.3_Silent_p.D163D|RABEPK_uc004bpk.3_Silent_p.D214D	NM_001174152	NP_005824	Q7Z6M1	RABEK_HUMAN	Homo sapiens Rab9 effector protein with kelch motifs (RABEPK), transcript variant 2, mRNA.	214					receptor-mediated endocytosis|vesicle docking involved in exocytosis	endosome membrane|plasma membrane				NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15						TGGCGGGGGACAGATTCTATG	0.453000														20			3		0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103293192	103293192	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:103293192A>G	uc022ajr.1	-	13	1729	c.1569T>C	c.(1567-1569)gtT>gtC	p.V523V	RELN_uc022ajq.1_Silent_p.V523V|RELN_uc010liz.3_Silent_p.V523V	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	523					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TGACCACAGAAACCAAAGACG	0.413000														119			8		0	0	1	0	0
CELSR3	1951	broad.mit.edu	37	3	48697457	48697457	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:48697457G>A	uc003cuf.1	-	2	2821	c.2821C>T	c.(2821-2823)Cgg>Tgg	p.R941W	CELSR3_uc003cul.3_Missense_Mutation_p.R871W	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA.	871	Cadherin 6.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		cccattggccgatcttcattc	0.507000														34			24		0	0	1	0	0
NQO2	4835	broad.mit.edu	37	6	3019874	3019874	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:3019874G>A	uc003mus.2	+	6	1019	c.681G>A	c.(679-681)tgG>tgA	p.W227*	NQO2_uc003mut.2_Nonsense_Mutation_p.W227*	NM_000904	NP_000895	P16083	NQO2_HUMAN	Homo sapiens NAD(P)H dehydrogenase, quinone 2 (NQO2), mRNA.	227						cytoplasm|nucleus	NADPH dehydrogenase (quinone) activity|coenzyme binding|dihydronicotinamide riboside quinone reductase activity|electron carrier activity|metal ion binding			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	7	Ovarian(93;0.0412)	all_hematologic(90;0.0895)			Menadione(DB00170)|NADH(DB00157)	CAGCCCACTGGCACTTCGGGC	0.552000														26			15		0	0	1	0	0
ZNF558	148156	broad.mit.edu	37	19	8922631	8922631	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:8922631G>T	uc002mkn.1	-	5	765	c.535C>A	c.(535-537)Ccc>Acc	p.P179T	ZNF558_uc010xkh.1_Missense_Mutation_p.P108T|ZNF558_uc010dwg.1_Missense_Mutation_p.P179T	NM_144693	NP_653294	Q96NG5	ZN558_HUMAN	Homo sapiens zinc finger protein 558 (ZNF558), mRNA.	179					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15						CAGTCATAGGGTTTTTCTCCA	0.383000														34			33		1.74807e-11	2.1378e-11	1	1	0
DUSP9	1852	broad.mit.edu	37	X	152915526	152915526	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:152915526G>T	uc004fhx.4	+	3	1125	c.921G>T	c.(919-921)caG>caT	p.Q307H	DUSP9_uc004fhy.4_Missense_Mutation_p.Q307H	NM_001395	NP_001386	Q99956	DUS9_HUMAN	Homo sapiens dual specificity phosphatase 9 (DUSP9), mRNA.	307	Tyrosine-protein phosphatase.				JNK cascade|inactivation of MAPK activity	cytosol|endoplasmic reticulum|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	p.M306I(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ACCTCATGCAGAAGCTCCACC	0.562000														303			14		4.3838e-07	5.01911e-07	1	1	0
MLL2	8085	broad.mit.edu	37	12	49449062	49449062	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:49449062C>T	uc001rta.4	-	0	46	c.46G>A	c.(46-48)Gca>Aca	p.A16T		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	16					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						TACTCACCTGCCGGTTCTGAA	0.502000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				27			12		0	0	1	0	0
LMO2	4005	broad.mit.edu	37	11	33886303	33886303	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:33886303C>A	uc001mve.3	-	1	541	c.102G>T	c.(100-102)caG>caT	p.Q34H	LMO2_uc001mvc.3_Missense_Mutation_p.Q27H|LMO2_uc001mvd.3_Missense_Mutation_p.Q27H|LMO2_uc010rel.2_Missense_Mutation_p.Q34H|LMO2_uc010rem.2_Missense_Mutation_p.Q103H	NM_001142316	NP_001135788	P25791	RBTN2_HUMAN	Homo sapiens LIM domain only 2 (rhombotin-like 1) (LMO2), transcript variant 3, mRNA.	34	LIM zinc-binding 1.				multicellular organismal development	nucleus	protein binding|zinc ion binding	p.C33*(1)		NS(1)|endometrium(2)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)|urinary_tract(1)	14						CAATGTTCTGCTGGCAGCCGC	0.632000			T	TRD@	T-ALL									39			14		7.93312e-07	9.03407e-07	1	1	0
GSPT1	2935	broad.mit.edu	37	16	11981501	11981501	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:11981501G>T	uc010bux.3	-	6	1152	c.469C>A	c.(469-471)Cta>Ata	p.L157I	GSPT1_uc002dbu.3_Missense_Mutation_p.L294I|GSPT1_uc002dbt.3_Missense_Mutation_p.L295I	NM_001130007	NP_001123479	P15170	ERF3A_HUMAN	Homo sapiens G1 to S phase transition 1 (GSPT1), transcript variant 3, mRNA.	157					G1/S transition of mitotic cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|protein methylation	intracellular	GTP binding|GTPase activity|protein binding|translation release factor activity			breast(1)|central_nervous_system(1)|kidney(4)|lung(4)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	14						GGGGCATCTAGAATTGTGAAA	0.448000														124			12		0.000151284	0.000164177	1	1	0
MLL5	55904	broad.mit.edu	37	7	104722214	104722214	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:104722214C>T	uc003vcm.3	+	12	1862	c.1328C>T	c.(1327-1329)aCt>aTt	p.T443I	MLL5_uc010lja.1_Missense_Mutation_p.T297I|MLL5_uc010ljb.1_Missense_Mutation_p.T443I|MLL5_uc003vcl.3_Missense_Mutation_p.T443I|MLL5_uc010ljc.3_Missense_Mutation_p.T443I|MLL5_uc003vco.1_Non-coding_Transcript|MLL5_uc010ljd.1_Missense_Mutation_p.T81I	NM_182931	NP_891847	Q8IZD2	MLL5_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila) (MLL5), transcript variant 1, mRNA.	443	SET.				DNA methylation|cell cycle arrest|cellular response to retinoic acid|erythrocyte differentiation|neutrophil activation|neutrophil mediated immunity|positive regulation of granulocyte differentiation|positive regulation of transcription, DNA-dependent|retinoic acid receptor signaling pathway|transcription, DNA-dependent	MLL5-L complex|nuclear speck	enzyme binding|histone methyltransferase activity (H3-K4 specific)|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(13)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	63						ACTGAAATTACTATTGCCTTT	0.294000														155			13		0	0	1	0	0
CCDC105	126402	broad.mit.edu	37	19	15133743	15133743	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:15133743G>A	uc002nae.2	+	6	1411	c.1312G>A	c.(1312-1314)Gcc>Acc	p.A438T		NM_173482	NP_775753	Q8IYK2	CC105_HUMAN	Homo sapiens coiled-coil domain containing 105 (CCDC105), mRNA.	438					microtubule cytoskeleton organization	microtubule				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						CGAGCTGCTCGCCACGCACAA	0.632000														8			4		0	0	1	0	0
KPNA5	3841	broad.mit.edu	37	6	117045503	117045503	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:117045503G>A	uc003pxh.3	+	9	1095	c.964G>A	c.(964-966)Ggt>Agt	p.G322S		NM_002269	NP_002260	O15131	IMA5_HUMAN	Homo sapiens karyopherin alpha 5 (importin alpha 6) (KPNA5), mRNA.	319	NLS binding site (minor) (By similarity).				NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding|protein transporter activity			breast(6)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0298)|all cancers(137;0.0461)|OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.212)		AAGGGCAGTTGGTAATATTGT	0.274000														31			27		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	107199192	107199192	+	RNA	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:107199192G>A	uc021ser.1	-	16		c.1497C>T								Parts of antibodies, mostly variable regions.																		GACCCTCCAGGCTGGACCAAG	0.592000														58			23		0	0	1	0	0
KCNJ5	3762	broad.mit.edu	37	11	128781940	128781940	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:128781940A>G	uc001qet.3	+	1	1086	c.772A>G	c.(772-774)Aac>Gac	p.N258D	KCNJ5_uc009zck.3_Missense_Mutation_p.N258D|KCNJ5_uc001qew.3_Missense_Mutation_p.N258D	NM_000890	NP_000881	P48544	IRK5_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 5 (KCNJ5), mRNA.	258					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glibenclamide(DB01016)	GACAGACATCAACGTGGGCTT	0.577000														51			25		0	0	1	0	0
KRT19P2	160313	broad.mit.edu	37	12	95228215	95228215	+	RNA	SNP	A	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:95228215A>T	uc001tdk.2	+	0		c.42A>T								Homo sapiens keratin 19 pseudogene 2 (KRT19P2), non-coding RNA.																		GACCTGCGGGACAAGATTCTT	0.532000														18			10		0	0	1	0	0
ARHGAP17	55114	broad.mit.edu	37	16	24942135	24942135	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:24942135T>C	uc002dnb.3	-	18	2578	c.2485A>G	c.(2485-2487)Aca>Gca	p.T829A	ARHGAP17_uc002dmw.3_Missense_Mutation_p.T91A|ARHGAP17_uc002dmy.3_Missense_Mutation_p.T274A|ARHGAP17_uc002dmz.3_Missense_Mutation_p.T353A|ARHGAP17_uc002dna.3_Missense_Mutation_p.T556A|ARHGAP17_uc002dnc.3_Missense_Mutation_p.T751A|ARHGAP17_uc010vcf.2_Missense_Mutation_p.T572A	NM_001006634	NP_001006635	Q68EM7	RHG17_HUMAN	Homo sapiens Rho GTPase activating protein 17 (ARHGAP17), transcript variant 1, mRNA.	829					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		GTTGGTGCTGTGTTGGTGAGG	0.527000														295			30		0	0	1	0	0
FSHR	2492	broad.mit.edu	37	2	49190103	49190103	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:49190103G>T	uc002rww.3	-	9	1967	c.1857C>A	c.(1855-1857)tcC>tcA	p.S619S	FSHR_uc010fbn.3_Silent_p.S593S|FSHR_uc002rwx.3_Silent_p.S557S	NM_000145	NP_000136	P23945	FSHR_HUMAN	Homo sapiens follicle stimulating hormone receptor (FSHR), transcript variant 1, mRNA.	619					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	GGTTGGCACAGGAGTTGATGG	0.473000									Gonadal Dysgenesis, 46 XX					22			23		2.27731e-05	2.51488e-05	1	1	0
AP1G2	8906	broad.mit.edu	37	14	24031799	24031799	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:24031799G>A	uc001wkl.2	-	14	1751	c.1414C>T	c.(1414-1416)Cca>Tca	p.P472S	AP1G2_uc001wkk.3_Missense_Mutation_p.P400S|AP1G2_uc001wkn.2_Missense_Mutation_p.P91S|AX747770_uc001wko.1_Intron|AP1G2_uc001wkp.1_Non-coding_Transcript	NM_003917	NP_003908	O75843	AP1G2_HUMAN	Homo sapiens adaptor-related protein complex 1, gamma 2 subunit (AP1G2), mRNA.	472					interspecies interaction between organisms|intracellular protein transport|vesicle-mediated transport	AP-1 adaptor complex|endosome membrane	protein binding|protein transporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	28	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00672)		TGCACCAGTGGTTGCTACATG	0.592000											OREG0022605	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		11			4		0	0	1	0	0
KNG1	3827	broad.mit.edu	37	3	186457161	186457161	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:186457161G>A	uc011bsa.2	+	8	1317	c.1083G>A	c.(1081-1083)gaG>gaA	p.E361E	KNG1_uc003fqr.3_Silent_p.E361E|KNG1_uc021xil.1_Silent_p.E325E	NM_001102416	NP_001095886	P01042	KNG1_HUMAN	Homo sapiens kininogen 1 (KNG1), transcript variant 1, mRNA.	361	Cystatin 3.				blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation	extracellular space|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding			endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2)	21	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)	Ouabain(DB01092)	TACCCTGGGAGAAAAAAATTT	0.403000														43			28		0	0	1	0	0
LARP4B	23185	broad.mit.edu	37	10	910103	910103	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:910103C>A	uc001ifs.1	-	2	290	c.249G>T	c.(247-249)tgG>tgT	p.W83C		NM_015155	NP_055970	Q92615	LAR4B_HUMAN	Homo sapiens La ribonucleoprotein domain family, member 4B (LARP4B), mRNA.	83							RNA binding|nucleotide binding	p.W83M(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						CCACCTCCTCCCATGCAGCAC	0.592000														31			9		0.000274275	0.000294507	1	1	0
KLF12	11278	broad.mit.edu	37	13	74420243	74420243	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:74420243T>G	uc001vjf.3	-	3	613	c.391A>C	c.(391-393)Aca>Cca	p.T131P	KLF12_uc010aeq.3_Missense_Mutation_p.T131P|KLF12_uc001vjg.3_Missense_Mutation_p.T131P	NM_007249	NP_009180	Q9Y4X4	KLF12_HUMAN	Homo sapiens Kruppel-like factor 12 (KLF12), mRNA.	131					negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16		Prostate(6;0.00217)|Breast(118;0.0838)		GBM - Glioblastoma multiforme(99;0.00677)		GATACTGATGTGATAACAGTT	0.488000														13			11		0	0	1	0	0
OGDH	4967	broad.mit.edu	37	7	44737297	44737297	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:44737297C>T	uc003tln.3	+	16	2433	c.2274C>T	c.(2272-2274)atC>atT	p.I758I	OGDH_uc011kbx.2_Silent_p.I754I|OGDH_uc011kby.2_Silent_p.I608I|OGDH_uc003tlp.3_Silent_p.I769I|OGDH_uc011kbz.2_Silent_p.I553I	NM_002541	NP_002532	Q02218	ODO1_HUMAN	Homo sapiens oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide) (OGDH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	758					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					NADH(DB00157)	AGTGTATCATCGACCAGTTCA	0.592000														69			29		0	0	1	0	0
USP11	8237	broad.mit.edu	37	X	47098481	47098481	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:47098481G>T	uc004dhp.3	+	1	318	c.318G>T	c.(316-318)gaG>gaT	p.E106D	USP11_uc004dhq.3_5'UTR	NM_004651	NP_004642	P51784	UBP11_HUMAN	Homo sapiens ubiquitin specific peptidase 11 (USP11), mRNA.	106	DUSP.				protein deubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						TCCTTGTGGAGAAGCACTGGT	0.527000														18			3		6.4e-05	6.99953e-05	1	1	0
ADI1	55256	broad.mit.edu	37	2	3504690	3504690	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:3504690G>A	uc002qxp.4	-	2	407	c.315C>T	c.(313-315)ttC>ttT	p.F105F	ADI1_uc010yiq.2_Non-coding_Transcript	NM_018269	NP_060739	Q9BV57	MTND_HUMAN	Homo sapiens acireductone dioxygenase 1 (ADI1), mRNA.	105					L-methionine salvage from methylthioadenosine	cytoplasm|nucleus|plasma membrane	acireductone dioxygenase (Ni2+-requiring) activity|metal ion binding|protein binding			breast(2)|large_intestine(2)|lung(4)|ovary(1)|stomach(1)	10	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.0729)|Epithelial(75;0.173)|all cancers(51;0.228)		CCCTCACATCGAAGTACCCAC	0.537000														25			15		0	0	1	0	0
ZNF329	79673	broad.mit.edu	37	19	58640739	58640739	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58640739C>T	uc002qrn.3	-	3	369	c.132G>A	c.(130-132)gaG>gaA	p.E44E	ZNF329_uc010euk.1_Non-coding_Transcript|ZNF329_uc002qro.1_Non-coding_Transcript|ZNF329_uc002qrp.1_Non-coding_Transcript|ZNF329_uc021vcv.1_Silent_p.E44E	NM_024620	NP_078896	Q86UD4	ZN329_HUMAN	Homo sapiens zinc finger protein 329 (ZNF329), mRNA.	44					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|large_intestine(10)|lung(5)|skin(3)|urinary_tract(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216)		TCAAGTGTCCCTCCTGGTTCT	0.473000														159			9		0	0	1	0	0
UBTF	7343	broad.mit.edu	37	17	42289051	42289051	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:42289051G>A	uc010czs.3	-	9	1266	c.970C>T	c.(970-972)Cgc>Tgc	p.R324C	UBTF_uc002igc.3_Missense_Mutation_p.R287C|UBTF_uc002igd.3_Missense_Mutation_p.R287C|UBTF_uc010czt.3_Missense_Mutation_p.R324C|UBTF_uc002ige.2_Missense_Mutation_p.R287C	NM_014233	NP_055048	P17480	UBF1_HUMAN	Homo sapiens upstream binding transcription factor, RNA polymerase I (UBTF), transcript variant 1, mRNA.	324					positive regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm	DNA binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.114)		AGCACCATGCGCTCTGTGCTG	0.602000														33			25		0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34052210	34052210	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:34052210G>A	uc001bxm.1	-	45	7122	c.6945C>T	c.(6943-6945)atC>atT	p.I2315I	CSMD2_uc001bxn.1_Silent_p.I2317I	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	2317	Sushi 13.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TGTAGCGTACGATGTCACCTG	0.483000														23			12		0	0	1	0	0
DHRS2	10202	broad.mit.edu	37	14	24109024	24109024	+	Missense_Mutation	SNP	G	A	A	rs146408773		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:24109024G>A	uc001wkt.4	+	3	787	c.340G>A	c.(340-342)Gtc>Atc	p.V114I	DHRS2_uc010aku.1_Missense_Mutation_p.V114I|DHRS2_uc001wku.4_Missense_Mutation_p.V114I|DHRS2_uc010akv.3_Non-coding_Transcript	NM_182908	NP_878912	Q13268	DHRS2_HUMAN	Homo sapiens dehydrogenase/reductase (SDR family) member 2 (DHRS2), transcript variant 1, mRNA.	92					C21-steroid hormone metabolic process|cellular response to oxidative stress|myeloid dendritic cell differentiation|negative regulation of apoptosis|negative regulation of cell proliferation|response to toxin	mitochondrion|nuclear envelope	binding|carbonyl reductase (NADPH) activity			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00659)		CTGTGGGGGCGTCGACTTCCT	0.642000														27			13		0	0	1	0	0
ABCC5	10057	broad.mit.edu	37	3	183643470	183643470	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:183643470G>A	uc003fmg.3	-	28	4250	c.4085C>T	c.(4084-4086)aCa>aTa	p.T1362I	ABCC5_uc011bqt.2_Missense_Mutation_p.T890I|ABCC5_uc010hxl.3_Missense_Mutation_p.T1319I	NM_005688	NP_005679	O15440	MRP5_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 5 (ABCC5), transcript variant 1, mRNA.	1362	ABC transporter 2.					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			GTCTGTCTCTGTGTCCATGGC	0.458000														47			22		0	0	1	0	0
C5orf45	51149	broad.mit.edu	37	5	179264753	179264753	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:179264753C>A	uc003mla.3	-	6	714	c.670G>T	c.(670-672)Gcc>Tcc	p.A224S	SQSTM1_uc011dgr.2_3'UTR|SQSTM1_uc011dgs.2_3'UTR|SQSTM1_uc003mkw.4_3'UTR|SQSTM1_uc003mkx.3_3'UTR|C5orf45_uc003mky.2_Intron|C5orf45_uc011dgt.1_Intron|C5orf45_uc011dgu.1_Intron|C5orf45_uc003mlc.3_Missense_Mutation_p.A169S|C5orf45_uc003mlb.3_Missense_Mutation_p.A90S|C5orf45_uc021yjh.1_Non-coding_Transcript	NM_016175	NP_057259	Q6NTE8	CE045_HUMAN	Homo sapiens chromosome 5 open reading frame 45 (C5orf45), transcript variant 1, mRNA.	224										breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12						GAGGATGTGGCTGTAACCTGC	0.587000														45			7		8.12818e-05	8.84769e-05	1	1	0
OR51T1	401665	broad.mit.edu	37	11	4904038	4904038	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:4904038G>T	uc010qyp.2	+	0	990	c.990G>T	c.(988-990)caG>caT	p.Q330H		NM_001004759	NP_001004759	Q8NGJ9	O51T1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily T, member 1 (OR51T1), mRNA.	303					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R329L(1)		NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		CAATCCGCCAGGCTATGTTCC	0.483000														69			5		4.096e-09	4.85449e-09	1	1	0
PCDHB2	56133	broad.mit.edu	37	5	140476722	140476722	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140476722G>A	uc003lil.3	+	0	2486	c.2348G>A	c.(2347-2349)aGg>aAg	p.R783K	PCDHB2_uc003lim.1_Missense_Mutation_p.R444K	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	Homo sapiens protocadherin beta 2 (PCDHB2), mRNA.	783					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGTGCAGAGAGGGTTAGCGAG	0.468000														100			9		0	0	1	0	0
HK2	3099	broad.mit.edu	37	2	75107511	75107511	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:75107511G>A	uc002snd.3	+	9	3311	c.1385G>A	c.(1384-1386)cGg>cAg	p.R462Q		NM_000189	NP_000180	P52789	HXK2_HUMAN	Homo sapiens hexokinase 2 (HK2), mRNA.	462	Regulatory.				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						GTGGCTTACCGGCTGGCCGAT	0.612000														59			38		0	0	1	0	0
MTUS2	23281	broad.mit.edu	37	13	29608054	29608054	+	Nonsense_Mutation	SNP	T	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:29608054T>A	uc001usl.4	+	1	2326	c.2268T>A	c.(2266-2268)tgT>tgA	p.C756*		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	Homo sapiens microtubule associated tumor suppressor candidate 2 (MTUS2), transcript variant 1, mRNA.	746	Mediates interaction with MAPRE1.					cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						AAGAGTTTTGTTCTCCTCCCT	0.443000														19			11		0	0	1	0	0
RREB1	6239	broad.mit.edu	37	6	7231795	7231795	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:7231795C>T	uc003mxb.3	+	9	3955	c.3463C>T	c.(3463-3465)Cgg>Tgg	p.R1155W	RREB1_uc021yky.1_Missense_Mutation_p.R1155W|RREB1_uc003mxc.3_Missense_Mutation_p.R1155W|RREB1_uc010jnx.3_Missense_Mutation_p.R1155W|RREB1_uc021ykz.1_Missense_Mutation_p.R1155W|RREB1_uc021yla.1_Intron	NM_001003699	NP_001003699	Q92766	RREB1_HUMAN	Homo sapiens ras responsive element binding protein 1 (RREB1), transcript variant 1, mRNA.	1155					Ras protein signal transduction|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				GAAGAGGGGCCGGAAAAGGGG	0.677000														11			9		0	0	1	0	0
VPS13B	157680	broad.mit.edu	37	8	100479713	100479713	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:100479713C>A	uc003yiv.3	+	23	3628	c.3517C>A	c.(3517-3519)Ctt>Att	p.L1173I	VPS13B_uc003yiw.3_Missense_Mutation_p.L1173I|VPS13B_uc003yiu.1_Missense_Mutation_p.L1173I|VPS13B_uc003yix.1_Missense_Mutation_p.L643I	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA.	1173					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			ACAAGTGACACTTTGCCTAGT	0.443000														152			63		7.05995e-25	9.22948e-25	1	1	0
ZNF483	158399	broad.mit.edu	37	9	114289834	114289834	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:114289834G>A	uc004bff.2	+	1	383	c.159G>A	c.(157-159)caG>caA	p.Q53Q	ZNF483_uc011lwq.2_Silent_p.Q53Q|ZNF483_uc004bfg.2_Silent_p.Q53Q|ZNF483_uc010mud.1_Silent_p.Q53Q	NM_133464	NP_597721	Q8TF39	ZN483_HUMAN	Homo sapiens zinc finger protein 483 (ZNF483), transcript variant 1, mRNA.	53	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						CTTTCAGACAGAGGTTTAGGT	0.473000														48			27		0	0	1	0	0
SSX1	6756	broad.mit.edu	37	X	48125807	48125807	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:48125807G>A	uc004djb.1	+	6	643	c.552G>A	c.(550-552)gaG>gaA	p.E184E		NM_005635	NP_005626	Q16384	SSX1_HUMAN	Homo sapiens synovial sarcoma, X breakpoint 1 (SSX1), mRNA.	184					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|transcription corepressor activity		SS18/SSX1(1169)|SS18L1/SSX1(2)	endometrium(2)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	9						GTGACCCTGAGGAAGATGACG	0.488000			T	SS18	synovial sarcoma									267			120		0	0	1	0	0
PAPD5	64282	broad.mit.edu	37	16	50250053	50250053	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:50250053C>T	uc010vgo.2	+	4	867	c.832C>T	c.(832-834)Cgg>Tgg	p.R278W	PAPD5_uc002efz.3_Missense_Mutation_p.R278W|PAPD5_uc010cbi.2_Non-coding_Transcript	NM_001040284	NP_001035374	Q8NDF8	PAPD5_HUMAN	Homo sapiens PAP associated domain containing 5 (PAPD5), transcript variant 1, mRNA.	199					DNA replication|cell division|histone mRNA catabolic process|mitosis	cytoplasm|nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding			endometrium(1)|kidney(1)|lung(2)	4		all_cancers(37;0.0452)		BRCA - Breast invasive adenocarcinoma(181;0.0843)|GBM - Glioblastoma multiforme(240;0.231)		AGAAGCTCTTCGGAAACACAA	0.423000														62			31		0	0	1	0	0
ECT2L	345930	broad.mit.edu	37	6	139164158	139164158	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:139164158C>A	uc003qif.2	+	5	710	c.385C>A	c.(385-387)Ctg>Atg	p.L129M	ECT2L_uc021zfx.1_Missense_Mutation_p.L129M|ECT2L_uc011edq.1_Missense_Mutation_p.L60M	NM_001077706	NP_001181966	Q008S8	ECT2L_HUMAN	Homo sapiens epithelial cell transforming sequence 2 oncogene-like (ECT2L), transcript variant 1, mRNA.	129					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						CGGATGGTTTCTGCCCTATAC	0.448000			"""N, Splice, Mis"""		ETP ALL									75			7		0.00448238	0.0046769	1	1	0
ODZ4	26011	broad.mit.edu	37	11	78369121	78369121	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:78369121G>A	uc001ozl.4	-	33	8755	c.8292C>T	c.(8290-8292)agC>agT	p.S2764S	ODZ4_uc001ozk.4_Silent_p.S989S	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA.	2764					signal transduction	integral to membrane				breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						GGCCCATCTCGCTCTGTCTCA	0.512000														194			90		0	0	1	0	0
TBC1D2B	23102	broad.mit.edu	37	15	78317661	78317661	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:78317661C>T	uc002bcy.4	-	4	1026	c.1026G>A	c.(1024-1026)ctG>ctA	p.L342L	TBC1D2B_uc010bla.3_Silent_p.L342L	NM_144572	NP_653173	Q9UPU7	TBD2B_HUMAN	Homo sapiens TBC1 domain family, member 2B (TBC1D2B), transcript variant 1, mRNA.	342						intracellular	Rab GTPase activator activity|protein binding	p.L342L(3)		breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						TCTGGACCTGCAGTTGCATTT	0.532000														87			10		0	0	1	0	0
GALM	130589	broad.mit.edu	37	2	38960630	38960630	+	Splice_Site	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:38960630C>T	uc002rqy.3	+	7	1204	c.952_splice	c.e7-1	p.P318_splice		NM_138801	NP_620156	Q96C23	GALM_HUMAN	Homo sapiens galactose mutarotase (aldose 1-epimerase) (GALM), mRNA.	318					hexose metabolic process	cytoplasm	aldose 1-epimerase activity|carbohydrate binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	14		all_hematologic(82;0.248)				CCCTTCACAGCCCCGCTTCCC	0.532000														79			33		0	0	1	0	0
BAG1	573	broad.mit.edu	37	9	33256830	33256830	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:33256830A>C	uc003zsj.3	-	4	941	c.854T>G	c.(853-855)tTt>tGt	p.F285C	BAG1_uc003zsi.3_Missense_Mutation_p.F147C	NM_001172415	NP_001165886	Q99933	BAG1_HUMAN	Homo sapiens BCL2-associated athanogene (BAG1), transcript variant 1, mRNA.	285	BAG.|Interaction with PPP1R15A.				anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway|chaperone cofactor-dependent protein refolding	cytoplasm|intermediate filament cytoskeleton|nucleus	protein binding|receptor signaling protein activity			endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	8			LUSC - Lung squamous cell carcinoma(29;0.00506)			GATCTTCATAAACTGCTCTAT	0.393000														38			28		0	0	1	0	0
TSPAN17	26262	broad.mit.edu	37	5	176084699	176084699	+	Nonstop_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:176084699G>T	uc003met.3	+	8	1228	c.999G>T	c.(997-999)taG>taT	p.*333Y	TSPAN17_uc003mes.3_3'UTR|TSPAN17_uc003meu.3_Nonstop_Mutation_p.*330Y|TSPAN17_uc003mew.3_3'UTR	NM_012171	NP_036303	Q96FV3	TSN17_HUMAN	Homo sapiens tetraspanin 17 (TSPAN17), transcript variant 1, mRNA.	0						integral to membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|urinary_tract(1)	13	all_cancers(89;0.00141)|Renal(175;0.000269)|Lung NSC(126;0.00814)|all_lung(126;0.0133)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			aaaattggtagatttcacata	0.542000														35			18		3.51602e-12	4.32762e-12	1	1	0
ZNF292	23036	broad.mit.edu	37	6	87969868	87969868	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:87969868G>A	uc003plm.4	+	7	6562	c.6521G>A	c.(6520-6522)tGt>tAt	p.C2174Y		NM_015021	NP_055836	O60281	ZN292_HUMAN	Homo sapiens zinc finger protein 292 (ZNF292), mRNA.	2174					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		GAATTTCGATGTCAGGTAAGT	0.368000														99			68		0	0	1	0	0
HCN2	610	broad.mit.edu	37	19	613983	613983	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:613983G>A	uc002lpe.3	+	6	2010	c.1957G>A	c.(1957-1959)Gag>Aag	p.E653K		NM_001194	NP_001185	Q9UL51	HCN2_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 2 (HCN2), mRNA.	653					cell-cell signaling|muscle contraction	voltage-gated potassium channel complex	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			endometrium(5)|lung(4)	9		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCGCGCCTTCGAGACGGTGGC	0.711000														15			12		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140811102	140811102	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140811102C>T	uc003lkt.2	+	0	945	c.776C>T	c.(775-777)aCg>aTg	p.T259M	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lkq.2_Intron|PCDHGC5_uc003lkp.2_Intron|PCDHGC5_uc011dba.2_Missense_Mutation_p.T259M	NM_003735	NP_003726	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 12 (PCDHGA12), transcript variant 1, mRNA.	259	Cadherin 3.				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)			GCCTTGGGCACGCAGCTGCTT	0.597000														33			17		0	0	1	0	0
RTN4RL1	146760	broad.mit.edu	37	17	1840818	1840818	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:1840818C>T	uc002ftp.3	-	1	317	c.298G>A	c.(298-300)Gtg>Atg	p.V100M		NM_178568	NP_848663	Q86UN2	R4RL1_HUMAN	Homo sapiens reticulon 4 receptor-like 1 (RTN4RL1), mRNA.	100					axon regeneration	anchored to plasma membrane	receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|prostate(2)|skin(1)	11						TCCAGGTGCACGAAGCCCTCG	0.647000														20			10		0	0	1	0	0
DST	667	broad.mit.edu	37	6	56401697	56401697	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:56401697C>T	uc003pcy.4	-	42	8889	c.8781G>A	c.(8779-8781)caG>caA	p.Q2927Q		NM_015548	NP_056363	Q03001	DYST_HUMAN	Homo sapiens dystonin (DST), transcript variant 1eA, mRNA.	5339					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	Z disc|actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein C-terminus binding|protein binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TTACATCTTGCTGTTTACCTT	0.408000														38			30		0	0	1	0	0
OR5H15	403274	broad.mit.edu	37	3	97888283	97888283	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:97888283C>A	uc011bgu.2	+	0	740	c.740C>A	c.(739-741)tCt>tAt	p.S247Y		NM_001005515	NP_001005515	A6NDH6	O5H15_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 15 (OR5H15), mRNA.	247					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						CATCTCTTCTCTGTCTGTTTA	0.428000														52			5		0.014758	0.0151755	1	1	0
C6orf10	10665	broad.mit.edu	37	6	32261804	32261804	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:32261804T>C	uc021yvt.1	-	22	819	c.646A>G	c.(646-648)Aca>Gca	p.T216A	C6orf10_uc011dpx.2_Missense_Mutation_p.T207A|C6orf10_uc021yvs.1_Missense_Mutation_p.T133A|C6orf10_uc011dpz.2_Missense_Mutation_p.T214A|C6orf10_uc021yvu.1_Missense_Mutation_p.T214A|C6orf10_uc021yvv.1_Missense_Mutation_p.T200A	NM_006781	NP_006772	Q5SRN2	CF010_HUMAN	Homo sapiens chromosome 6 open reading frame 10 (C6orf10), mRNA.	216						integral to membrane				cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	25						ATGTAACCTGTTAATATAACT	0.343000														84			8		0	0	1	0	0
SYN3	8224	broad.mit.edu	37	22	33402448	33402448	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:33402448A>G	uc003amx.3	-	0	362	c.200T>C	c.(199-201)aTg>aCg	p.M67T	SYN3_uc003amy.3_Missense_Mutation_p.M67T|SYN3_uc003amz.3_Missense_Mutation_p.M67T	NM_003490	NP_003481	O14994	SYN3_HUMAN	Homo sapiens synapsin III (SYN3), transcript variant IIIa, mRNA.	67	B; linker.				neurotransmitter secretion	cell junction|synaptic vesicle membrane	ATP binding|ligase activity	p.A66T(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						GGCCTGCTTCATGGCACTGGA	0.617000														83			12		0	0	1	0	0
FAM211A	388341	broad.mit.edu	37	17	16347042	16347042	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:16347042G>T	uc010cph.1	-	3	1071	c.895C>A	c.(895-897)Ctg>Atg	p.L299M	FAM211A_uc002gqh.2_3'UTR|C17orf76-AS1_uc010vwo.1_Intron|C17orf76-AS1_uc010vwp.1_Intron|C17orf76-AS1_uc010vwl.1_Intron|C17orf76-AS1_uc010vwm.1_Intron|C17orf76-AS1_uc010vwn.1_Intron|C17orf76-AS1_uc021tra.1_Intron|C17orf76-AS1_uc021trb.1_Intron|C17orf76-AS1_uc021trc.1_Intron|C17orf76-AS1_uc010cpe.2_Intron|FAM211A_uc002gqg.1_3'UTR	NM_001113567	NP_001107039	Q8NAA5	CQ076_HUMAN	Homo sapiens family with sequence similarity 211, member A (FAM211A), transcript variant 1, mRNA.	299										lung(1)	1						CCCAGCTCCAGGATGGTGGGT	0.662000														20			7		8.12818e-05	8.84769e-05	1	1	0
PLXNB1	5364	broad.mit.edu	37	3	48460444	48460444	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:48460444C>T	uc003csw.2	-	12	3107	c.2837G>A	c.(2836-2838)gGc>gAc	p.G946D	PLXNB1_uc003csu.2_Missense_Mutation_p.G763D|PLXNB1_uc003csx.2_Missense_Mutation_p.G946D|PLXNB1_uc010hjx.1_Non-coding_Transcript|PLXNB1_uc003csy.1_5'Flank	NM_002673	NP_002664	O43157	PLXB1_HUMAN	Homo sapiens plexin B1 (PLXNB1), transcript variant 1, mRNA.	946					axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GTCTCCTGGGCCATCCTGAGG	0.622000														30			3		0	0	1	0	0
STYXL1	51657	broad.mit.edu	37	7	75634663	75634663	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:75634663G>A	uc003uel.3	-	5	856	c.513C>T	c.(511-513)ggC>ggT	p.G171G	STYXL1_uc003uef.3_5'UTR|STYXL1_uc011kgg.2_Silent_p.G23G|STYXL1_uc003ueh.3_Silent_p.G33G|STYXL1_uc011kgf.2_Silent_p.G33G|STYXL1_uc003uek.4_Silent_p.G75G|STYXL1_uc003uem.3_Silent_p.G171G|STYXL1_uc010ldg.2_Non-coding_Transcript|STYXL1_uc010ldh.2_Silent_p.G171G|STYXL1_uc003uen.1_Silent_p.G171G	NM_016086	NP_057170	Q9Y6J8	STYL1_HUMAN	Homo sapiens serine/threonine/tyrosine interacting-like 1 (STYXL1), mRNA.	171	Tyrosine-protein phosphatase.				intracellular signal transduction|protein dephosphorylation	intracellular	protein binding|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	10						GACTGAAATTGCCAACGAAGA	0.468000														90			7		0	0	1	0	0
ARID2	196528	broad.mit.edu	37	12	46211663	46211663	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:46211663T>C	uc001ros.1	+	4	629	c.629T>C	c.(628-630)tTt>tCt	p.F210S	ARID2_uc001ror.3_Missense_Mutation_p.F210S	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	Homo sapiens AT rich interactive domain 2 (ARID, RFX-like) (ARID2), mRNA.	210					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		GCCGGGGTGTTTGACGACAGT	0.318000			"""N, S, F"""		hepatocellular carcinoma									32			7		0	0	1	0	0
NKTR	4820	broad.mit.edu	37	3	42680894	42680894	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:42680894G>A	uc003clo.3	+	12	3845	c.3698G>A	c.(3697-3699)gGg>gAg	p.G1233E	NKTR_uc003clm.1_Missense_Mutation_p.G980E|NKTR_uc011azp.2_Intron|NKTR_uc003clp.3_Missense_Mutation_p.G980E|NKTR_uc003clq.1_Missense_Mutation_p.G1123E|NKTR_uc003clr.1_Missense_Mutation_p.G980E|NKTR_uc003cls.3_Missense_Mutation_p.G933E	NM_005385	NP_005376	P30414	NKTR_HUMAN	Homo sapiens natural killer-tumor recognition sequence (NKTR), mRNA.	1233					protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		CAAGGTGTGGGGAACCTGGCA	0.498000														26			29		0	0	1	0	0
VPS33B	26276	broad.mit.edu	37	15	91551163	91551163	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:91551163C>T	uc002bqp.1	-	6	789	c.435G>A	c.(433-435)ttG>ttA	p.L145L	VPS33B_uc002bqq.1_Silent_p.L54L|VPS33B_uc010uqu.1_Silent_p.L118L	NM_018668	NP_061138	Q9H267	VP33B_HUMAN	Homo sapiens vacuolar protein sorting 33 homolog B (yeast) (VPS33B), mRNA.	145					cellular membrane fusion|lysosome localization|melanosome localization|platelet alpha granule organization|protein transport|vesicle docking involved in exocytosis	late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm|platelet alpha granule	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|stomach(2)	16	Lung NSC(78;0.0987)|all_lung(78;0.175)					CAAGAGGCAGCAAAGAGAAGG	0.512000														53			37		0	0	1	0	0
CLTC	1213	broad.mit.edu	37	17	57746275	57746275	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:57746275C>T	uc002ixr.1	+	13	2721	c.2278C>T	c.(2278-2280)Cct>Tct	p.P760S	CLTC_uc002ixp.3_Missense_Mutation_p.P756S|CLTC_uc002ixq.1_Missense_Mutation_p.P756S	NM_004859	NP_004850	Q00610	CLH1_HUMAN	Homo sapiens clathrin, heavy chain (Hc) (CLTC), mRNA.	756	Heavy chain arm.|Proximal segment.				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					CTGCTACGATCCTGAGCGAGT	0.413000			T	"""ALK, TFE3"""	"""ALCL, renal """									42			11		0	0	1	0	0
LCMT2	9836	broad.mit.edu	37	15	43621357	43621357	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:43621357A>G	uc001zrg.3	-	0	1464	c.1331T>C	c.(1330-1332)tTg>tCg	p.L444S	ADAL_uc001zrh.3_5'Flank|ADAL_uc010udo.2_5'Flank	NM_014793	NP_055608	O60294	LCMT2_HUMAN	Homo sapiens leucine carboxyl methyltransferase 2 (LCMT2), mRNA.	444					tRNA processing		methyltransferase activity|protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(1)|urinary_tract(1)	20		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.1e-07)	L-Leucine(DB00149)	GAGAACCCCCAAGGCTGGACT	0.488000														73			7		0	0	1	0	0
CFD	1675	broad.mit.edu	37	19	860969	860969	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:860969G>T	uc002lqc.3	+	2	346	c.321G>T	c.(319-321)caG>caT	p.Q107H		NM_001928	NP_001919	P00746	CFAD_HUMAN	Homo sapiens complement factor D (adipsin) (CFD), mRNA.	107	Peptidase S1.				complement activation, alternative pathway|platelet activation|platelet degranulation|proteolysis	platelet alpha granule lumen	serine-type endopeptidase activity						Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGGACAGCCAGCCCGACACCA	0.711000														15			6		5.18039e-06	5.80246e-06	1	1	0
PCK1	5105	broad.mit.edu	37	20	56138777	56138777	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:56138777G>A	uc002xyn.4	+	5	1118	c.955G>A	c.(955-957)Gca>Aca	p.A319T	PCK1_uc010zzm.2_Intron	NM_002591	NP_002582	P35558	PCKGC_HUMAN	Homo sapiens phosphoenolpyruvate carboxykinase 1 (soluble) (PCK1), mRNA.	319					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	GTP binding|carboxylic acid binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity	p.D318D(1)		endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			GAAGTTTGACGCACAAGGTGA	0.542000														56			34		0	0	1	0	0
DNAJB5	25822	broad.mit.edu	37	9	34996467	34996467	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:34996467C>T	uc011los.2	+	2	994	c.633C>T	c.(631-633)ggC>ggT	p.G211G	DNAJB5_uc003zvs.3_Silent_p.G173G|DNAJB5_uc003zvt.3_Silent_p.G139G	NM_001135005	NP_036398	O75953	DNJB5_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 5 (DNAJB5), transcript variant 1, mRNA.	139					protein folding|response to unfolded protein		heat shock protein binding|unfolded protein binding			kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(32;0.00575)			ACCCATTTGGCGCTTTCGGCC	0.592000														19			19		0	0	1	0	0
OMG	4974	broad.mit.edu	37	17	29622720	29622720	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:29622720A>G	uc002hgj.3	-	1	843	c.630T>C	c.(628-630)tcT>tcC	p.S210S	NF1_uc002hgg.3_Intron|NF1_uc002hgh.3_Intron|NF1_uc002hgi.1_Intron|NF1_uc010cso.3_Intron|OMG_uc021tuj.1_Silent_p.S210S	NM_002544	NP_002535	P23515	OMGP_HUMAN	Homo sapiens oligodendrocyte myelin glycoprotein (OMG), mRNA.	210					cell adhesion|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	anchored to membrane|plasma membrane		p.0?(8)|p.?(3)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)|stomach(1)	13		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;1.81e-13)|Epithelial(4;4.04e-12)|OV - Ovarian serous cystadenocarcinoma(4;9.49e-12)|GBM - Glioblastoma multiforme(4;0.121)		GTTGGTCAAAAGATTGGTCTG	0.363000														134			70		0	0	1	0	0
MARCH6	10299	broad.mit.edu	37	5	10411624	10411624	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:10411624G>A	uc003jet.1	+	18	2054	c.1871G>A	c.(1870-1872)cGc>cAc	p.R624H	MARCH6_uc011cmu.1_Missense_Mutation_p.R576H|MARCH6_uc003jeu.1_Missense_Mutation_p.R322H|MARCH6_uc011cmv.1_Missense_Mutation_p.R519H	NM_005885	NP_005876	O60337	MARH6_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 6 (MARCH6), mRNA.	624					protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						CAGCCTTACCGCCGACCTTTA	0.458000														26			16		0	0	1	0	0
VEZT	55591	broad.mit.edu	37	12	95676134	95676134	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:95676134C>T	uc001tdz.2	+	7	1147	c.1042C>T	c.(1042-1044)Cgg>Tgg	p.R348W	VEZT_uc001tds.3_Missense_Mutation_p.R300W|VEZT_uc001tdv.3_Missense_Mutation_p.R321W|VEZT_uc009ztb.2_Non-coding_Transcript|VEZT_uc009ztc.1_Splice_Site|VEZT_uc001tdy.2_Non-coding_Transcript	NM_017599	NP_060069	Q9HBM0	VEZA_HUMAN	Homo sapiens vezatin, adherens junctions transmembrane protein (VEZT), transcript variant 1, mRNA.	348						acrosomal vesicle|adherens junction|integral to membrane|nucleus				endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1)	23						GTTCTTCAGACGGTTAGCCCT	0.408000														46			15		0	0	1	0	0
FBXL18	80028	broad.mit.edu	37	7	5540990	5540990	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:5540990C>T	uc003soo.2	-	2	1004	c.910G>A	c.(910-912)Ggc>Agc	p.G304S	FBXL18_uc003son.4_Missense_Mutation_p.G304S	NM_024963	NP_079239	Q96ME1	FXL18_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 18 (FBXL18), mRNA.	304									FBXL18/RNF216(2)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)	21		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)		AGGGAAGAGCCGTTCAGCCAG	0.592000														22			14		0	0	1	0	0
GTF2E1	2960	broad.mit.edu	37	3	120489701	120489701	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:120489701G>A	uc003edz.4	+	2	689	c.575G>A	c.(574-576)cGg>cAg	p.R192Q		NM_005513	NP_005504	P29083	T2EA_HUMAN	Homo sapiens general transcription factor IIE, polypeptide 1, alpha 56kDa (GTF2E1), mRNA.	192					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein binding|zinc ion binding	p.R192L(4)		NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)	22				GBM - Glioblastoma multiforme(114;0.159)		GCATTGCTTCGGGAGACAGAG	0.463000														187			123		0	0	1	0	0
TRPV2	51393	broad.mit.edu	37	17	16335329	16335329	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:16335329C>T	uc002gpy.3	+	11	2103	c.1704C>T	c.(1702-1704)ggC>ggT	p.G568G	TRPV2_uc002gpz.3_Silent_p.G138G	NM_016113	NP_057197	Q9Y5S1	TRPV2_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 2 (TRPV2), mRNA.	568					sensory perception	integral to plasma membrane|melanosome	calcium channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		CTCCTACAGGCCCCAATGCCA	0.647000														25			17		0	0	1	0	0
OR2D2	120776	broad.mit.edu	37	11	6913227	6913227	+	Nonsense_Mutation	SNP	G	A	A	rs148113613		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6913227G>A	uc010rau.2	-	0	505	c.505C>T	c.(505-507)Cga>Tga	p.R169*		NM_003700	NP_003691	Q9H210	OR2D2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily D, member 2 (OR2D2), mRNA.	169					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	18		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TTACTGCCTCGGTAGGGTAGC	0.493000														33			22		0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7580863	7580863	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:7580863C>A	uc003mxp.1	+	22	4719	c.4440C>A	c.(4438-4440)aaC>aaA	p.N1480K	DSP_uc003mxq.1_Intron|DSP_uc021yle.1_Intron	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	1480	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)		AGGATAAAAACAAGGAGATAG	0.428000														59			26		1.5548e-18	1.99422e-18	1	1	0
PPM1J	333926	broad.mit.edu	37	1	113254974	113254974	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:113254974C>T	uc001ect.1	-	3	862	c.835G>A	c.(835-837)Gat>Aat	p.D279N	PPM1J_uc009wgl.1_Non-coding_Transcript|PPM1J_uc001ecs.1_Missense_Mutation_p.D73N	NM_005167	NP_005158	Q5JR12	PPM1J_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1J (PPM1J), mRNA.	279	PP2C-like.									breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	14	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TACCTGCTATCGCCTGCATTG	0.607000														9			5		0	0	1	0	0
SHB	6461	broad.mit.edu	37	9	38068631	38068631	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:38068631C>T	uc004aax.3	-	0	580	c.12G>A	c.(10-12)tgG>tgA	p.W4*		NM_003028	NP_003019	Q15464	SHB_HUMAN	Homo sapiens Src homology 2 domain containing adaptor protein B (SHB), mRNA.	4	Mediates interaction with LAT, FAK1, JAK1 and JAK3.				angiogenesis|apoptosis|cell differentiation|signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity			central_nervous_system(2)|endometrium(4)|lung(1)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)	11		all_epithelial(88;0.122)		GBM - Glioblastoma multiforme(29;3.27e-05)|Lung(182;0.0658)		ACTTGTTTAGCCACTTGGCCA	0.741000														7			5		0	0	1	0	0
MLXIPL	51085	broad.mit.edu	37	7	73010520	73010520	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:73010520C>A	uc003tyn.1	-	12	2069	c.2021G>T	c.(2020-2022)gGg>gTg	p.G674V	MLXIPL_uc003tyj.1_Missense_Mutation_p.G53V|MLXIPL_uc003tyk.1_Missense_Mutation_p.G672V|MLXIPL_uc003tym.1_Missense_Mutation_p.G674V|MLXIPL_uc003tyl.1_Missense_Mutation_p.G672V|MLXIPL_uc003tyo.1_Non-coding_Transcript|MLXIPL_uc003typ.1_Missense_Mutation_p.G580V	NM_032951	NP_116569	Q9NP71	WBS14_HUMAN	Homo sapiens MLX interacting protein-like (MLXIPL), transcript variant 1, mRNA.	674					anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis	cytosol|transcription factor complex	carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13		Lung NSC(55;0.0659)|all_lung(88;0.152)				GCTCACGAGCCCATGAAGGGT	0.642000														52			23		4.26978e-12	5.24748e-12	1	1	0
GPATCH3	63906	broad.mit.edu	37	1	27217689	27217689	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:27217689C>A	uc001bne.3	-	6	1419	c.1390G>T	c.(1390-1392)Ggg>Tgg	p.G464W	BC016143_uc021ojq.1_Intron|GPN2_uc001bnd.1_5'Flank|GPATCH3_uc009vsp.2_Missense_Mutation_p.G275W	NM_022078	NP_071361	Q96I76	GPTC3_HUMAN	Homo sapiens G patch domain containing 3 (GPATCH3), mRNA.	464						intracellular	nucleic acid binding			endometrium(2)|large_intestine(1)|lung(11)|skin(1)	15		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.97e-51)|OV - Ovarian serous cystadenocarcinoma(117;9.55e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|STAD - Stomach adenocarcinoma(196;0.000595)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|READ - Rectum adenocarcinoma(331;0.0419)		TTCAGTTGCCCAAATGGCTGT	0.557000														16			5		0.00116845	0.00123466	1	1	0
NCOA4	8031	broad.mit.edu	37	10	51585345	51585345	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:51585345A>C	uc001jis.4	+	7	1647	c.1444A>C	c.(1444-1446)Att>Ctt	p.I482L	PARG_uc001jih.3_Intron|TIMM23_uc010qha.2_Intron|TIMM23_uc001jin.3_Intron|TIMM23_uc010qhb.2_Intron|TIMM23_uc010qhc.2_Intron|NCOA4_uc009xon.3_Missense_Mutation_p.I498L|NCOA4_uc010qhd.2_Missense_Mutation_p.I498L|NCOA4_uc010qhe.2_Missense_Mutation_p.I382L|NCOA4_uc010qhf.2_Missense_Mutation_p.I316L|NCOA4_uc001jit.3_Missense_Mutation_p.I482L|NCOA4_uc009xoo.3_Missense_Mutation_p.I482L	NM_001145263	NP_005428	Q13772	NCOA4_HUMAN	Homo sapiens nuclear receptor coactivator 4 (NCOA4), transcript variant 4, mRNA.	482					androgen receptor signaling pathway|male gonad development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	androgen receptor binding|transcription coactivator activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						TCCTTCTAGAATTGCTGATTC	0.448000			T	RET	papillary thyroid									146			55		0	0	1	0	0
GINS2	51659	broad.mit.edu	37	16	85721174	85721174	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:85721174G>T	uc002fja.3	-	1	181	c.97C>A	c.(97-99)Ctg>Atg	p.L33M	GINS2_uc002fjb.2_Missense_Mutation_p.L33M	NM_016095	NP_057179	Q9Y248	PSF2_HUMAN	Homo sapiens GINS complex subunit 2 (Psf2 homolog) (GINS2), mRNA.	33					DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle	nucleoplasm	protein binding			endometrium(2)|large_intestine(2)|lung(2)	6						AAAGGCCCCAGGTCCCCCTGC	0.473000														43			6		8.12818e-05	8.84769e-05	1	1	0
LRRN1	57633	broad.mit.edu	37	3	3886579	3886579	+	Missense_Mutation	SNP	C	T	T	rs150075361		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:3886579C>T	uc003bpt.4	+	1	1015	c.254C>T	c.(253-255)gCa>gTa	p.A85V	SUMF1_uc003bps.2_Intron|LRRN1_uc021wsh.1_Missense_Mutation_p.A85V	NM_020873	NP_065924	Q6UXK5	LRRN1_HUMAN	Homo sapiens leucine rich repeat neuronal 1 (LRRN1), mRNA.	85						integral to membrane				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		AATAACATCGCAAAGACTGTG	0.448000														43			8		0	0	1	0	0
LGI3	203190	broad.mit.edu	37	8	22006277	22006277	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:22006277C>T	uc003xav.3	-	7	1332	c.1043G>A	c.(1042-1044)aGc>aAc	p.S348N	LGI3_uc010ltu.3_Missense_Mutation_p.S324N	NM_139278	NP_644807	Q8N145	LGI3_HUMAN	Homo sapiens leucine-rich repeat LGI family, member 3 (LGI3), mRNA.	348					exocytosis	cell junction|extracellular region|synaptic vesicle|synaptosome				endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	17				Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999)		TGCCTTGGAGCTGTCAGCCAC	0.617000														20			17		0	0	1	0	0
PRAMEF11	440560	broad.mit.edu	37	1	12887407	12887407	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:12887407C>T	uc001auk.2	-	2	646	c.450G>A	c.(448-450)atG>atA	p.M150I		NM_001146344	NP_001139816	O60813	PRA11_HUMAN	Homo sapiens PRAME family member 11 (PRAMEF11), mRNA.	150										NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						TGCGGAAGGGCATTCCCAAAA	0.468000														294			18		0	0	1	0	0
PDZRN4	29951	broad.mit.edu	37	12	41966493	41966493	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:41966493C>T	uc010skn.2	+	9	1920	c.1912C>T	c.(1912-1914)Cga>Tga	p.R638*	PDZRN4_uc001rmq.4_Nonsense_Mutation_p.R380*|PDZRN4_uc009zjz.3_Nonsense_Mutation_p.R378*|PDZRN4_uc001rmr.3_Nonsense_Mutation_p.R265*	NM_001164595	NP_001158067	Q6ZMN7	PZRN4_HUMAN	Homo sapiens PDZ domain containing ring finger 4 (PDZRN4), transcript variant 1, mRNA.	638							ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				ATGCAAGATTCGAAATCATGG	0.458000														25			22		0	0	1	0	0
KRIT1	889	broad.mit.edu	37	7	91844019	91844019	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:91844019C>A	uc003ulr.1	-	14	2528	c.1636G>T	c.(1636-1638)Gct>Tct	p.A546S	KRIT1_uc010lev.1_Missense_Mutation_p.A303S|KRIT1_uc003ulq.1_Missense_Mutation_p.A546S|KRIT1_uc003uls.1_Missense_Mutation_p.A546S|KRIT1_uc003ult.1_Missense_Mutation_p.A498S|KRIT1_uc003ulu.1_Missense_Mutation_p.A546S|KRIT1_uc003ulv.1_Missense_Mutation_p.A546S	NM_004912	NP_919438	O00522	KRIT1_HUMAN	Homo sapiens KRIT1, ankyrin repeat containing (KRIT1), transcript variant 2, mRNA.	546	FERM.|Required for RAP1A binding.				angiogenesis|cell redox homeostasis|negative regulation of angiogenesis|negative regulation of endothelial cell apoptosis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|regulation of establishment of cell polarity|small GTPase mediated signal transduction	cell-cell junction|cytoskeleton	protein binding|small GTPase regulator activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1)	22	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GCATCAGGAGCTGTATAAAAG	0.328000														59			25		2.98393e-07	3.43467e-07	1	1	0
UTP20	27340	broad.mit.edu	37	12	101769479	101769479	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:101769479G>T	uc001tia.1	+	55	7497	c.7341G>T	c.(7339-7341)aaG>aaT	p.K2447N		NM_014503	NP_055318	O75691	UTP20_HUMAN	Homo sapiens UTP20, small subunit (SSU) processome component, homolog (yeast) (UTP20), mRNA.	2447					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						AACTTATCAAGGAATGTAATA	0.313000														27			15		4.93089e-13	6.11992e-13	1	1	0
TMEM131	23505	broad.mit.edu	37	2	98375500	98375500	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:98375500G>A	uc002syh.4	-	39	5452	c.5223C>T	c.(5221-5223)ctC>ctT	p.L1741L	TMEM131_uc002syg.3_Silent_p.L121L	NM_015348	NP_056163	Q92545	TM131_HUMAN	Homo sapiens transmembrane protein 131 (TMEM131), mRNA.	1741	Ser-rich.					integral to membrane		p.L1628L(1)|p.L1741L(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						GAGATAATCCGAGTTTGCTGA	0.463000														56			27		0	0	1	0	0
ZC3H11A	9877	broad.mit.edu	37	1	203798692	203798692	+	Missense_Mutation	SNP	G	A	A	rs142418357	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:203798692G>A	uc001hac.3	+	7	1028	c.412G>A	c.(412-414)Gtt>Att	p.V138I	ZC3H11A_uc001had.3_Missense_Mutation_p.V138I|ZC3H11A_uc001hae.3_Missense_Mutation_p.V138I|ZC3H11A_uc001haf.3_Missense_Mutation_p.V138I|ZC3H11A_uc010pqm.2_Missense_Mutation_p.V84I|ZC3H11A_uc001hag.1_Missense_Mutation_p.V138I	NM_014827	NP_055642	O75152	ZC11A_HUMAN	Homo sapiens zinc finger CCCH-type containing 11A (ZC3H11A), mRNA.	138							nucleic acid binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GCTGCGGAGCGTTATGAAAGT	0.463000														114			9		0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11556116	11556116	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:11556116C>A	uc002gne.3	+	13	2460	c.2392C>A	c.(2392-2394)Cat>Aat	p.H798N	DNAH9_uc010coo.3_Missense_Mutation_p.H92N	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	798	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CAGTAGTATTCATGATCTTGA	0.363000														77			40		6.1244e-12	7.52355e-12	1	1	0
FAT4	79633	broad.mit.edu	37	4	126239717	126239717	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:126239717C>T	uc003ifj.4	+	0	2151	c.2151C>T	c.(2149-2151)gaC>gaT	p.D717D		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	717	Cadherin 7.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CTGACCCAGACTTGGGTACCA	0.488000														43			18		0	0	1	0	0
ACVR1	90	broad.mit.edu	37	2	158594104	158594104	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:158594104C>T	uc002tzn.3	-	10	1899	c.1469G>A	c.(1468-1470)cGt>cAt	p.R490H	ACVR1_uc002tzm.3_Missense_Mutation_p.R490H|ACVR1_uc010fog.2_Missense_Mutation_p.R490H	NM_001105	NP_001104537	Q04771	ACVR1_HUMAN	Homo sapiens activin A receptor, type I (ACVR1), transcript variant 1, mRNA.	490	Protein kinase.				BMP signaling pathway|G1/S transition of mitotic cell cycle|negative regulation of activin receptor signaling pathway|negative regulation of apoptosis|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	activin receptor complex	ATP binding|SMAD binding|activin binding|follistatin binding|metal ion binding|protein homodimerization activity|transforming growth factor beta binding	p.L489L(1)		endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	19				BRCA - Breast invasive adenocarcinoma(221;0.104)	Adenosine triphosphate(DB00171)	CTTTTTGATACGCAGTGCTGT	0.393000														35			35		0	0	1	0	0
FAM134A	79137	broad.mit.edu	37	2	220045793	220045793	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:220045793T>C	uc002vjw.4	+	5	786	c.650T>C	c.(649-651)aTc>aCc	p.I217T	FAM134A_uc010fwc.3_Missense_Mutation_p.I10T|FAM134A_uc002vjx.3_Missense_Mutation_p.I10T	NM_024293	NP_077269	Q8NC44	F134A_HUMAN	Homo sapiens family with sequence similarity 134, member A (FAM134A), mRNA.	217						endoplasmic reticulum|integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	19		Renal(207;0.0915)		Epithelial(149;8.92e-07)|all cancers(144;0.000151)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GTGTTGAGTATCCTGCTGTGG	0.512000														127			11		0	0	1	0	0
THBS4	7060	broad.mit.edu	37	5	79355669	79355669	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:79355669T>C	uc021yaw.1	+	6	1119	c.928T>C	c.(928-930)Tgt>Cgt	p.C310R		NM_003248	NP_003239	P35443	TSP4_HUMAN	Homo sapiens thrombospondin 4 (THBS4), mRNA.	310	EGF-like 1.				endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		TGGCTTCCAGTGTGGGCCCTG	0.572000														118			61		0	0	1	0	0
AKNAD1	254268	broad.mit.edu	37	1	109394328	109394328	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:109394328T>C	uc001dwa.3	-	1	1228	c.959A>G	c.(958-960)aAa>aGa	p.K320R	AKNAD1_uc010ovb.2_Intron|AKNAD1_uc001dwb.3_Non-coding_Transcript	NM_152763	NP_689976	Q5T1N1	AKND1_HUMAN	Homo sapiens AKNA domain containing 1 (AKNAD1), mRNA.	320								p.Q319*(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						GATTTTCCCTTTCTGCTCTTG	0.408000														324			20		0	0	1	0	0
DRP2	1821	broad.mit.edu	37	X	100492743	100492743	+	Missense_Mutation	SNP	A	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:100492743A>T	uc004egz.2	+	4	786	c.417A>T	c.(415-417)caA>caT	p.Q139H	DRP2_uc011mrh.1_Missense_Mutation_p.Q61H	NM_001939	NP_001164655	Q13474	DRP2_HUMAN	Homo sapiens dystrophin related protein 2 (DRP2), transcript variant 1, mRNA.	139					central nervous system development	cytoplasm|cytoskeleton	zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						CCCTGGTGCAACAGGAGAAGG	0.542000														86			30		0	0	1	0	0
LIG3	3980	broad.mit.edu	37	17	33326454	33326454	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:33326454G>A	uc002hik.2	+	14	2371	c.2242G>A	c.(2242-2244)Gtg>Atg	p.V748M	LIG3_uc002hij.3_Missense_Mutation_p.V748M	NM_013975	NP_039269	P49916	DNLI3_HUMAN	Homo sapiens ligase III, DNA, ATP-dependent (LIG3), nuclear gene encoding mitochondrial protein, transcript variant alpha, mRNA.	748					DNA ligation involved in DNA repair|DNA replication|base-excision repair|cell division|reciprocal meiotic recombination|spermatogenesis	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|protein binding|zinc ion binding	p.E747*(1)		endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1)	31		Ovarian(249;0.17)			Bleomycin(DB00290)	ACTAGACATGGTGAAGATCAG	0.572000								Other BER factors						14			8		0	0	1	0	0
PDS5A	23244	broad.mit.edu	37	4	39924325	39924325	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:39924325T>C	uc003guv.4	-	5	1111	c.571A>G	c.(571-573)Atg>Gtg	p.M191V	PDS5A_uc003guw.4_Missense_Mutation_p.M191V	NM_001100399	NP_001093869	Q29RF7	PDS5A_HUMAN	Homo sapiens PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae) (PDS5A), transcript variant 1, mRNA.	191					cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						ATAGAACTCATCAAATCTAGC	0.333000														19			7		0	0	1	0	0
PPP2R5D	5528	broad.mit.edu	37	6	42975803	42975803	+	Splice_Site	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:42975803G>T	uc003oth.3	+	7	943	c.857_splice	c.e7+1	p.R286_splice	MEA1_uc010jyc.1_Intron|PPP2R5D_uc010jyd.3_Splice_Site_p.R180_splice|PPP2R5D_uc011dva.2_Splice_Site_p.R135_splice|PPP2R5D_uc003oti.3_Splice_Site_p.R135_splice|PPP2R5D_uc021yzq.1_Splice_Site_p.R254_splice|PPP2R5D_uc003otj.3_Splice_Site_p.R135_splice	NM_006245	NP_006236	Q14738	2A5D_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B', delta (PPP2R5D), transcript variant 1, mRNA.	286					nervous system development|signal transduction	cytoplasm|nucleus|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	25			Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			ATCTTCTACAGGTGAGGCCAG	0.557000														88			9		7.48243e-07	8.52591e-07	1	1	0
DOCK5	80005	broad.mit.edu	37	8	25159865	25159865	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:25159865C>T	uc003xeg.3	+	9	1008	c.871C>T	c.(871-873)Cgg>Tgg	p.R291W	DOCK5_uc010luf.1_Non-coding_Transcript|DOCK5_uc003xeh.1_Missense_Mutation_p.R5W|DOCK5_uc003xef.3_Missense_Mutation_p.R291W	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN	Homo sapiens dedicator of cytokinesis 5 (DOCK5), mRNA.	291						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		GGACCTCATCCGGCCCCGCGT	0.557000														23			6		0	0	1	0	0
SLC8A2	6543	broad.mit.edu	37	19	47969296	47969296	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:47969296C>T	uc010ele.3	-	0	381	c.365G>A	c.(364-366)cGc>cAc	p.R122H	SLC8A2_uc002pgx.3_Missense_Mutation_p.R122H|SLC8A2_uc010xyq.2_Intron|SLC8A2_uc010xyr.2_Intron			Q9UPR5	NAC2_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 2 (SLC8A2), mRNA.	122					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		ATTCCAGATGCGAACGGTGCC	0.587000														28			8		0	0	1	0	0
DENND4A	10260	broad.mit.edu	37	15	65960372	65960372	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:65960372A>C	uc002api.3	-	27	5259	c.4874T>G	c.(4873-4875)tTt>tGt	p.F1625C	DENND4A_uc002aph.3_Missense_Mutation_p.F1582C	NM_001144823	NP_001138295	Q7Z401	MYCPP_HUMAN	Homo sapiens DENN/MADD domain containing 4A (DENND4A), transcript variant 1, mRNA.	1582					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						GGCCATTGGAAATATTGGACA	0.413000														55			4		0	0	1	0	0
CACNA1H	8912	broad.mit.edu	37	16	1262039	1262039	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:1262039G>A	uc002cks.3	+	24	4908	c.4660G>A	c.(4660-4662)Gtg>Atg	p.V1554M	CACNA1H_uc002ckt.3_Missense_Mutation_p.V1554M|CACNA1H_uc002cku.3_Missense_Mutation_p.V260M|CACNA1H_uc010brj.3_Missense_Mutation_p.V260M|CACNA1H_uc002ckv.3_Missense_Mutation_p.V260M	NM_021098	NP_066921	O95180	CAC1H_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1H subunit (CACNA1H), transcript variant 1, mRNA.	1554					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	p.V1554L(6)		breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	CGTGGGCGTCGTGGTCGAGAA	0.632000														80			67		0	0	1	0	0
ZCCHC8	55596	broad.mit.edu	37	12	122958464	122958464	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:122958464C>T	uc001ucn.3	-	13	1860	c.1704G>A	c.(1702-1704)ccG>ccA	p.P568P	ZCCHC8_uc001ucl.3_Silent_p.P179P|ZCCHC8_uc001ucm.3_Silent_p.P330P|ZCCHC8_uc009zxp.3_Silent_p.P330P|ZCCHC8_uc009zxq.3_Silent_p.P330P	NM_017612	NP_060082	Q6NZY4	ZCHC8_HUMAN	Homo sapiens zinc finger, CCHC domain containing 8 (ZCCHC8), mRNA.	568						catalytic step 2 spliceosome	nucleic acid binding|protein binding|zinc ion binding	p.P568Q(1)		endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202)		TTTTTCCCTCCGGGACAGGGA	0.502000														172			103		0	0	1	0	0
MAB21L2	10586	broad.mit.edu	37	4	151504913	151504913	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:151504913C>T	uc003ilw.3	+	0	1837	c.732C>T	c.(730-732)ggC>ggT	p.G244G	LRBA_uc003ils.4_5'Flank|LRBA_uc003ilt.4_Intron|LRBA_uc003ilu.4_Intron|LRBA_uc010ipj.3_Intron	NM_006439	NP_006430	Q9Y586	MB212_HUMAN	Homo sapiens mab-21-like 2 (C. elegans) (MAB21L2), mRNA.	244					nervous system development	nucleus				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	21	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.159)		TGCTGATGGGCGGCTGCCGAA	0.637000														24			7		0	0	1	0	0
SLC5A3	6526	broad.mit.edu	37	21	35468499	35468499	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:35468499G>T	uc021wir.1	+	0	1002	c.1002G>T	c.(1000-1002)gaG>gaT	p.E334D	SLC5A3_uc002yto.3_Missense_Mutation_p.E334D|MRPS6_uc002ytp.2_Intron	NM_006933	NP_008864	P53794	SC5A3_HUMAN	Homo sapiens solute carrier family 5 (sodium/myo-inositol cotransporter), member 3 (SLC5A3), mRNA.	334						integral to plasma membrane	myo-inositol:sodium symporter activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	20						TCAACCCAGAGCACTGCATGC	0.483000														58			61		7.50695e-29	9.88374e-29	1	1	0
CEBPE	1053	broad.mit.edu	37	14	23588171	23588171	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:23588171C>T	uc001wiv.2	-	0	650	c.130G>A	c.(130-132)Gcc>Acc	p.A44T		NM_001805	NP_001796	Q15744	CEBPE_HUMAN	Homo sapiens CCAAT/enhancer binding protein (C/EBP), epsilon (CEBPE), mRNA.	44						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.S43F(1)		large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)	9	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.0064)		TCGATGTAGGCGGAGAGGTCA	0.662000														32			17		0	0	1	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85450908	85450908	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:85450908C>A	uc001tac.3	+	7	2448	c.2337C>A	c.(2335-2337)ccC>ccA	p.P779P	LRRIQ1_uc021rbo.1_Silent_p.P657P|LRRIQ1_uc001taa.1_Silent_p.P754P	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 1 (LRRIQ1), mRNA.	779										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		ACATGACACCCGCTTTGGATA	0.328000														100			58		5.5144e-22	7.1535e-22	1	1	0
COL11A1	1301	broad.mit.edu	37	1	103548440	103548440	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:103548440C>A	uc001dum.3	-	1	513	c.195G>T	c.(193-195)aaG>aaT	p.K65N	COL11A1_uc001dul.3_Missense_Mutation_p.K65N|COL11A1_uc001dun.3_Missense_Mutation_p.K65N|COL11A1_uc009weh.3_Missense_Mutation_p.K65N	NM_080629	NP_542196	P12107	COBA1_HUMAN	Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA.	65	TSP N-terminal.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CTTTAGAATTCTTTCTGTTTG	0.358000														140			33		2.52637e-11	3.08524e-11	1	1	0
NEBL	10529	broad.mit.edu	37	10	21074810	21074810	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:21074810C>A	uc001iqi.3	-	27	3308	c.2911G>T	c.(2911-2913)Gac>Tac	p.D971Y	NEBL_uc001iqj.3_Non-coding_Transcript|NEBL_uc001iqk.3_Missense_Mutation_p.D227Y|NEBL_uc021pnu.1_3'UTR	NM_006393	NP_006384	O76041	NEBL_HUMAN	Homo sapiens nebulette (NEBL), transcript variant 1, mRNA.	971	SH3.				regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						GAGACCTCGTCTTCATCCTGG	0.498000														32			16		1.99824e-07	2.30332e-07	1	1	0
RPA1	6117	broad.mit.edu	37	17	1747293	1747293	+	Splice_Site	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:1747293G>A	uc002fto.2	+	3	278	c.163_splice	c.e3+1	p.S55_splice		NM_002945	NP_002936	P27694	RFA1_HUMAN	Homo sapiens replication protein A1, 70kDa (RPA1), mRNA.	55					DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor A complex|PML body|actin cytoskeleton|cytoplasm	metal ion binding|protein binding|single-stranded DNA binding			breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)	10						ACTCTATCCTGTGAGTATGGT	0.448000								Nucleotide excision repair (NER)						40			6		0	0	1	0	0
ANAPC5	51433	broad.mit.edu	37	12	121784789	121784789	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:121784789C>A	uc001uag.3	-	2	429	c.307G>T	c.(307-309)Ggc>Tgc	p.G103C	ANAPC5_uc001uah.3_Missense_Mutation_p.G4C	NM_016237	NP_057321	Q9UJX4	APC5_HUMAN	Homo sapiens anaphase promoting complex subunit 5 (ANAPC5), transcript variant 1, mRNA.	103					G2/M transition of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity			breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TTCAACTCGCCTTCAGCCATC	0.368000														54			7		0.000442599	0.000473562	1	1	0
AVIL	10677	broad.mit.edu	37	12	58201166	58201166	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:58201166G>A	uc001sqj.2	-	11	1468	c.1439C>T	c.(1438-1440)aCg>aTg	p.T480M	AVIL_uc009zqe.2_Missense_Mutation_p.T473M|AVIL_uc001sqk.1_Missense_Mutation_p.T58M|AVIL_uc001sql.4_Missense_Mutation_p.T457M	NM_006576	NP_006567	O75366	AVIL_HUMAN	Homo sapiens advillin (AVIL), mRNA.	480	Core (By similarity).				actin filament capping|cilium morphogenesis|cytoskeleton organization|positive regulation of neuron projection development	actin cytoskeleton|axon|cytoplasm	actin binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					GCGTGGCTCCGTTCCCATCCT	0.537000														60			34		0	0	1	0	0
KCTD7	154881	broad.mit.edu	37	7	66104046	66104046	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:66104046G>T	uc003tve.3	+	3	881	c.697G>T	c.(697-699)Ggg>Tgg	p.G233W	RABGEF1_uc003tvf.3_Intron|KCTD7_uc003tvd.4_Missense_Mutation_p.G233W	NM_153033	NP_694578	Q96MP8	KCTD7_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 7 (KCTD7), transcript variant 1, mRNA.	233						voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1)	16						TGTGTCTTTTGGGCCCTGGGA	0.597000														86			6		2.0095e-06	2.27092e-06	1	1	0
MYOCD	93649	broad.mit.edu	37	17	12655755	12655755	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:12655755C>T	uc002gno.2	+	9	1449	c.1150C>T	c.(1150-1152)Cga>Tga	p.R384*	MYOCD_uc002gnn.2_Nonsense_Mutation_p.R384*|MYOCD_uc002gnp.1_Nonsense_Mutation_p.R288*|MYOCD_uc002gnq.2_Nonsense_Mutation_p.R103*	NM_001146312	NP_001139784	Q8IZQ8	MYCD_HUMAN	Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA.	384	SAP.				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	RNA polymerase II transcription factor binding transcription factor activity|nucleic acid binding|transcription factor binding	p.R384Q(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		ACAACAGCTTCGAATTCGGGG	0.453000														38			21		0	0	1	0	0
DDX43	55510	broad.mit.edu	37	6	74104640	74104640	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:74104640C>T	uc003pgw.3	+	0	356	c.12C>T	c.(10-12)caC>caT	p.H4H	OOEP_uc003pgv.4_5'UTR|DDX43_uc011dyn.1_Non-coding_Transcript	NM_018665	NP_061135	Q9NXZ2	DDX43_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 43 (DDX43), mRNA.	4						intracellular	ATP binding|ATP-dependent RNA helicase activity|RNA binding	p.H4H(2)		NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						TGTCCCACCACGGAGGAGCTC	0.632000														52			7		0	0	1	0	0
WDFY3	23001	broad.mit.edu	37	4	85626601	85626601	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:85626601C>A	uc003hpd.3	-	53	8689	c.8281G>T	c.(8281-8283)Gat>Tat	p.D2761Y	WDFY3_uc003hpe.1_Missense_Mutation_p.D372Y	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	Homo sapiens WD repeat and FYVE domain containing 3 (WDFY3), mRNA.	2761	BEACH.					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	p.T2760P(1)		breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		AATCGTTCATCTGTTTGTGCT	0.383000														120			11		4.68919e-08	5.46558e-08	1	1	0
MARK2	2011	broad.mit.edu	37	11	63667395	63667395	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:63667395T>G	uc001nxw.3	+	7	1160	c.581T>G	c.(580-582)tTt>tGt	p.F194C	MARK2_uc001nxv.4_Missense_Mutation_p.F194C|MARK2_uc001nxx.3_Missense_Mutation_p.F194C|MARK2_uc001nxy.3_Missense_Mutation_p.F194C|MARK2_uc001nxz.4_Missense_Mutation_p.F161C|MARK2_uc009yoy.3_Missense_Mutation_p.F161C	NM_001039469	NP_001034558	Q7KZI7	MARK2_HUMAN	Homo sapiens MAP/microtubule affinity-regulating kinase 2 (MARK2), transcript variant 4, mRNA.	194	Protein kinase.				cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress	plasma membrane	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						ATTGCAGACTTTGGCTTCAGC	0.478000														166			19		0	0	1	0	0
SSRP1	6749	broad.mit.edu	37	11	57094960	57094960	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:57094960C>A	uc001njt.3	-	14	2078	c.1811G>T	c.(1810-1812)aGg>aTg	p.R604M	TNKS1BP1_uc001njs.3_5'Flank|TNKS1BP1_uc009ymd.1_5'Flank	NM_003146	NP_003137	Q08945	SSRP1_HUMAN	Homo sapiens structure specific recognition protein 1 (SSRP1), mRNA.	604					DNA repair|DNA replication|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|cytoplasm|nucleoplasm	DNA binding|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(4)	23						ATAGTCCCTCCTGGCATCCTC	0.502000														170			18		2.4624e-09	2.92908e-09	1	1	0
MUC5B	727897	broad.mit.edu	37	11	1271361	1271361	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:1271361C>A	uc001lta.3	+	30	13310	c.13251C>A	c.(13249-13251)acC>acA	p.T4417T		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	4417	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCCCAGGGACCACCTGGATCC	0.657000														133			8		0.00185496	0.0019572	1	1	0
DHX35	60625	broad.mit.edu	37	20	37617553	37617553	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:37617553G>T	uc002xjh.3	+	4	473	c.443G>T	c.(442-444)aGa>aTa	p.R148I	DHX35_uc010zwa.2_5'UTR|DHX35_uc010zwc.2_Missense_Mutation_p.R117I|DHX35_uc010zwb.2_5'UTR	NM_021931	NP_068750	Q9H5Z1	DHX35_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 35 (DHX35), transcript variant 1, mRNA.	148	Helicase ATP-binding.					catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40		Myeloproliferative disorder(115;0.00878)				CTGGCCACGAGAATTAAGGTA	0.493000														45			21		4.96729e-08	5.78267e-08	1	1	0
MYRIP	25924	broad.mit.edu	37	3	40192659	40192659	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:40192659G>A	uc003cka.3	+	3	588	c.453G>A	c.(451-453)gcG>gcA	p.A151A	MYRIP_uc010hhu.3_Non-coding_Transcript|MYRIP_uc010hhv.3_Silent_p.A151A|MYRIP_uc010hhw.3_Intron|MYRIP_uc010hhx.1_Silent_p.A151A|MYRIP_uc011ayz.2_5'UTR	NM_015460	NP_056275	Q8NFW9	MYRIP_HUMAN	Homo sapiens myosin VIIA and Rab interacting protein (MYRIP), mRNA.	151	Myosin-binding.				intracellular protein transport		actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		AGAGTGGCGCGTGCTTCGACA	0.562000														11			12		0	0	1	0	0
NCSTN	23385	broad.mit.edu	37	1	160326407	160326407	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:160326407C>T	uc001fvx.3	+	14	1781	c.1657C>T	c.(1657-1659)Cat>Tat	p.H553Y	NCSTN_uc001fvy.3_Missense_Mutation_p.H533Y|NCSTN_uc010pjf.2_Missense_Mutation_p.H415Y|NCSTN_uc010pjg.2_Missense_Mutation_p.H295Y	NM_015331	NP_056146	Q92542	NICA_HUMAN	Homo sapiens nicastrin (NCSTN), mRNA.	553					Notch receptor processing|Notch signaling pathway|amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|positive regulation of catalytic activity|protein processing	Golgi apparatus|endoplasmic reticulum|integral to plasma membrane|melanosome	protein binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(2)	34	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GCCTCTTCAACATTACATCGC	0.527000														105			7		0	0	1	0	0
MLYCD	23417	broad.mit.edu	37	16	83945881	83945881	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:83945881C>T	uc002fgz.3	+	3	877	c.857C>T	c.(856-858)gCg>gTg	p.A286V		NM_012213	NP_036345	O95822	DCMC_HUMAN	Homo sapiens malonyl-CoA decarboxylase (MLYCD), nuclear gene encoding mitochondrial protein, mRNA.	286					acyl-CoA metabolic process|fatty acid biosynthetic process	mitochondrion|peroxisome	malonyl-CoA decarboxylase activity|methylmalonyl-CoA decarboxylase activity			NS(1)|biliary_tract(1)|breast(1)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						ATCACTGCTGCGATCTTTTAT	0.507000														51			48		0	0	1	0	0
CABIN1	23523	broad.mit.edu	37	22	24515526	24515526	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:24515526C>T	uc002zzi.1	+	27	4620	c.4493C>T	c.(4492-4494)cCg>cTg	p.P1498L	CABIN1_uc021wnc.1_Missense_Mutation_p.P1448L|CABIN1_uc002zzj.1_Missense_Mutation_p.P1419L|CABIN1_uc002zzl.2_Missense_Mutation_p.P1498L	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN	Homo sapiens calcineurin binding protein 1 (CABIN1), transcript variant 2, mRNA.	1498					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity	p.P1498Q(2)		breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						CAGGGGCTGCCGGCTGGTGCT	0.642000														38			10		0	0	1	0	0
GUCY2F	2986	broad.mit.edu	37	X	108718910	108718910	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:108718910C>T	uc022cch.1	-	0	341	c.256G>A	c.(256-258)Gac>Aac	p.D86N	GUCY2F_uc011msq.2_Non-coding_Transcript|GUCY2F_uc004eod.4_Missense_Mutation_p.D86N	NM_001522	NP_001513	P51841	GUC2F_HUMAN	Homo sapiens guanylate cyclase 2F, retinal (GUCY2F), mRNA.	86					intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						AAAGATGGGTCCCGGTTGATT	0.502000											OREG0019905	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		143			10		0	0	1	0	0
XAB2	56949	broad.mit.edu	37	19	7684859	7684859	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:7684859C>T	uc002mgx.3	-	16	2395	c.2369G>A	c.(2368-2370)cGc>cAc	p.R790H		NM_020196	NP_064581	Q9HCS7	SYF1_HUMAN	Homo sapiens XPA binding protein 2 (XAB2), mRNA.	790					transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						GCTCTGGGCGCGCAAGGGCTG	0.672000								Direct reversal of damage;Nucleotide excision repair (NER)						28			17		0	0	1	0	0
PKD2L2	27039	broad.mit.edu	37	5	137242000	137242000	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:137242000C>A	uc003lby.3	+	5	908	c.852C>A	c.(850-852)tcC>tcA	p.S284S	PKD2L2_uc010jep.1_Silent_p.S224S|PKD2L2_uc003lbw.1_Silent_p.S284S|PKD2L2_uc003lbx.3_Silent_p.S284S|PKD2L2_uc011cyi.1_5'UTR	NM_014386	NP_055201	Q9NZM6	PK2L2_HUMAN	Homo sapiens polycystic kidney disease 2-like 2 (PKD2L2), mRNA.	284						integral to membrane	calcium ion binding|ion channel activity	p.S284F(1)		breast(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	28			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TTATTGCTTCCTGTGAAATCA	0.338000														61			31		2.65835e-16	3.3677e-16	1	1	0
ERN2	10595	broad.mit.edu	37	16	23702503	23702503	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:23702503G>A	uc002dma.4	-	20	2828	c.2659C>T	c.(2659-2661)Cgg>Tgg	p.R887W	ERN2_uc010bxp.3_Missense_Mutation_p.R835W	NM_033266	NP_150296	Q76MJ5	ERN2_HUMAN	Homo sapiens endoplasmic reticulum to nucleus signaling 2 (ERN2), mRNA.	839	KEN.				apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		TTATAGGACCGGAACTTTCTC	0.627000														90			8		0	0	1	0	0
OR51F2	119694	broad.mit.edu	37	11	4842974	4842974	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:4842974G>T	uc010qyn.2	+	0	359	c.359G>T	c.(358-360)gGa>gTa	p.G120V		NM_001004753	NP_001004753	Q8NH61	O51F2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily F, member 2 (OR51F2), mRNA.	120					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		TTTCTACACGGATTTACTTTC	0.468000														147			12		7.03913e-09	8.30711e-09	1	1	0
OPTC	26254	broad.mit.edu	37	1	203472684	203472684	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:203472684C>T	uc001gzu.1	+	6	951	c.835C>T	c.(835-837)Ctg>Ttg	p.L279L		NM_014359	NP_055174	Q9UBM4	OPT_HUMAN	Homo sapiens opticin (OPTC), mRNA.	279						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)			CCAGAATAACCTGATAGAGAC	0.562000														61			13		0	0	1	0	0
KMO	8564	broad.mit.edu	37	1	241725562	241725562	+	Missense_Mutation	SNP	G	A	A	rs147782357		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:241725562G>A	uc009xgp.3	+	6	856	c.545G>A	c.(544-546)cGc>cAc	p.R182H	KMO_uc001hyy.3_Missense_Mutation_p.R222H|KMO_uc009xgo.2_Missense_Mutation_p.R222H	NM_003679	NP_003670	O15229	KMO_HUMAN	Homo sapiens kynurenine 3-monooxygenase (kynurenine 3-hydroxylase) (KMO), mRNA.	182					pyridine nucleotide biosynthetic process|response to salt stress	cytosol|integral to membrane|mitochondrial outer membrane	NAD(P)H oxidase activity|electron carrier activity|flavin adenine dinucleotide binding|kynurenine 3-monooxygenase activity			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Ovarian(103;0.103)|all_lung(81;0.23)		OV - Ovarian serous cystadenocarcinoma(106;0.0176)			AAGAAACCTCGCTTTGATTAC	0.443000														65			48		0	0	1	0	0
ERLIN1	10613	broad.mit.edu	37	10	101912021	101912021	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:101912021T>C	uc001kqn.4	-	10	1265	c.914A>G	c.(913-915)aAc>aGc	p.N305S	ERLIN1_uc001kqo.4_Missense_Mutation_p.N305S|ERLIN1_uc010qpm.2_Missense_Mutation_p.N221S	NM_006459	NP_006450	O75477	ERLN1_HUMAN	Homo sapiens ER lipid raft associated 1 (ERLIN1), mRNA.	303					ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane	protein binding						Colorectal(252;0.234)		Epithelial(162;3.85e-10)|all cancers(201;3.25e-08)		CACGAACATGTTAGGGATGTT	0.468000														74			7		0	0	1	0	0
SLC25A52	147407	broad.mit.edu	37	18	29340153	29340153	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:29340153A>G	uc002kxa.2	-	0	691	c.472T>C	c.(472-474)Tat>Cat	p.Y158H		NM_001034172	NP_001029344	Q3SY17	MCAR2_HUMAN	Homo sapiens mitochondrial carrier triple repeat 2 (MCART2), nuclear gene encoding mitochondrial protein, mRNA.	158					transport	integral to membrane|mitochondrial inner membrane											AAAGCCTGATAAGTGTTGGTA	0.433000														158			7		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179433764	179433764	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179433764G>A	uc021vsy.1	-	274	69616	c.69391C>T	c.(69391-69393)Cca>Tca	p.P23131S	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.P16826S|TTN_uc021vta.1_Missense_Mutation_p.P16759S|TTN_uc021vtb.1_Missense_Mutation_p.P16634S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	24058	Ig-like 118.						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)			GGAGGTTGTGGCACTTCTGCA	0.438000														77			63		0	0	1	0	0
UPP2	151531	broad.mit.edu	37	2	158991263	158991263	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:158991263C>T	uc002tzo.3	+	8	1006	c.986C>T	c.(985-987)gCt>gTt	p.A329V	UPP2_uc002tzp.3_Missense_Mutation_p.A272V	NM_001135098	NP_775491	O95045	UPP2_HUMAN	Homo sapiens uridine phosphorylase 2 (UPP2), transcript variant 2, mRNA.	272					nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|uridine metabolic process	cytosol|type III intermediate filament	uridine phosphorylase activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31						CTTCTAGCTGCTGTGGTCTGT	0.468000														50			7		0	0	1	0	0
RNF17	56163	broad.mit.edu	37	13	25444764	25444764	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:25444764A>G	uc001upr.3	+	31	4375	c.4334A>G	c.(4333-4335)gAc>gGc	p.D1445G	RNF17_uc010tde.2_Missense_Mutation_p.D1441G|RNF17_uc010aab.3_Non-coding_Transcript|RNF17_uc001ups.3_Missense_Mutation_p.D1384G|RNF17_uc010aac.3_Missense_Mutation_p.D637G|RNF17_uc010aad.3_Missense_Mutation_p.D455G	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN	Homo sapiens ring finger protein 17 (RNF17), transcript variant 1, mRNA.	1445					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		CAGCATAGTGACACAGATGAT	0.448000														61			8		0	0	1	0	0
CHCHD2	51142	broad.mit.edu	37	7	56171941	56171941	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:56171941G>A	uc003tsa.3	-	1	359	c.278C>T	c.(277-279)gCg>gTg	p.A93V	PSPH_uc003trj.3_Intron	NM_016139	NP_057223	Q9Y6H1	CHCH2_HUMAN	Homo sapiens coiled-coil-helix-coiled-coil-helix domain containing 2 (CHCHD2), nuclear gene encoding mitochondrial protein, mRNA.	93						mitochondrion				endometrium(1)|large_intestine(1)|lung(3)	5	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GTCAGGCCTCGCAGGCTCAGC	0.532000														96			31		0	0	1	0	0
SLC24A2	25769	broad.mit.edu	37	9	19550257	19550257	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:19550257C>T	uc003zoa.2	-	6	1510	c.1357G>A	c.(1357-1359)Gag>Aag	p.E453K	SLC24A2_uc003zob.2_Missense_Mutation_p.E436K	NM_020344	NP_065077	Q9UI40	NCKX2_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 2 (SLC24A2), transcript variant 1, mRNA.	453					visual perception	integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		TCCTCCTCCTCATCAGCGGTC	0.458000														63			45		0	0	1	0	0
ZCCHC13	389874	broad.mit.edu	37	X	73524566	73524566	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:73524566G>A	uc004ebs.4	+	0	542	c.465G>A	c.(463-465)cgG>cgA	p.R155R		NM_203303	NP_976048	Q8WW36	ZCH13_HUMAN	Homo sapiens zinc finger, CCHC domain containing 13 (ZCCHC13), mRNA.	155							nucleic acid binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	8						TACCGCTGCGGCAAATCCCGA	0.527000														23			16		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179435367	179435367	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179435367G>A	uc021vsy.1	-	274	68013	c.67788C>T	c.(67786-67788)gaC>gaT	p.D22596D	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.D16291D|TTN_uc021vta.1_Silent_p.D16224D|TTN_uc021vtb.1_Silent_p.D16099D	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	23523	Fibronectin type-III 64.						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)			TGGTGGCAAAGTCGGTGCTCT	0.408000														56			30		0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40433186	40433186	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:40433186C>T	uc002omp.4	-	1	1091	c.1083G>A	c.(1081-1083)gtG>gtA	p.V361V		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	361	IgGFc-binding.					extracellular region	protein binding	p.V361M(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TCGTCTGTGCCACTACCAGGG	0.607000														17			6		0	0	1	0	0
PGF	5228	broad.mit.edu	37	14	75416192	75416192	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:75416192G>A	uc010ase.2	-	2	705	c.183C>T	c.(181-183)gtC>gtT	p.V61V	PGF_uc001xqz.3_Silent_p.V61V|PGF_uc001xrb.3_Silent_p.V61V|PGF_uc010asf.2_Missense_Mutation_p.S47L	NM_001207012	NP_001193941	P49763	PLGF_HUMAN	Homo sapiens placental growth factor (PGF), transcript variant 2, mRNA.	61					angiogenesis|cell differentiation|cell-cell signaling|positive regulation of cell division|positive regulation of cell proliferation|vascular endothelial growth factor receptor signaling pathway	extracellular region|membrane	growth factor activity|heparin binding			kidney(1)|large_intestine(3)|lung(3)|ovary(1)	8				BRCA - Breast invasive adenocarcinoma(234;0.00668)		ACTCGGACACGACGTCCACCA	0.657000														17			11		0	0	1	0	0
DHX8	1659	broad.mit.edu	37	17	41598189	41598189	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:41598189A>G	uc002idu.1	+	19	3080	c.3008A>G	c.(3007-3009)gAg>gGg	p.E1003G	DHX8_uc010wig.2_Missense_Mutation_p.E1003G	NM_004941	NP_004932	Q14562	DHX8_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 8 (DHX8), mRNA.	1003						catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|RNA binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		GGCTGCAGTGAGGAAATGCTG	0.478000											OREG0024435	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		34			21		0	0	1	0	0
QSER1	79832	broad.mit.edu	37	11	32955686	32955686	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:32955686C>T	uc001mty.3	+	3	2762	c.2495C>T	c.(2494-2496)tCg>tTg	p.S832L	QSER1_uc001mtz.1_Missense_Mutation_p.S593L|QSER1_uc001mua.3_Missense_Mutation_p.S337L	NM_001076786	NP_001070254	Q2KHR3	QSER1_HUMAN	Homo sapiens glutamine and serine rich 1 (QSER1), mRNA.	832										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)					TCTCTTGGATCGATGTGTTTC	0.363000														61			34		0	0	1	0	0
DTX4	23220	broad.mit.edu	37	11	58962747	58962747	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:58962747G>T	uc001nns.2	+	6	1698	c.1441G>T	c.(1441-1443)Ggg>Tgg	p.G481W	DTX4_uc001nnr.2_Missense_Mutation_p.G375W	NM_015177	NP_055992	Q9Y2E6	DTX4_HUMAN	Homo sapiens deltex homolog 4 (Drosophila) (DTX4), mRNA.	481					Notch signaling pathway	cytoplasm	zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	20		all_epithelial(135;0.125)				CCAACCTCCAGGGAAGATGGA	0.572000														58			10		2.17888e-05	2.40634e-05	1	1	0
TLR9	54106	broad.mit.edu	37	3	52256729	52256729	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52256729G>T	uc003ddb.3	-	4	2104	c.1894C>A	c.(1894-1896)Ctc>Atc	p.L632I	TLR9_uc003dda.2_Missense_Mutation_p.L535I	NM_017442	NP_059138	Q9NR96	TLR9_HUMAN	Homo sapiens toll-like receptor 9 (TLR9), mRNA.	535					I-kappaB phosphorylation|defense response to bacterium|fibroblast growth factor receptor signaling pathway|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of NF-kappaB transcription factor activity|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity			endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)	TCGTGGTAGAGGTCCAGCTTA	0.612000														50			5		0.014758	0.0151755	1	1	0
APBA1	320	broad.mit.edu	37	9	72131763	72131763	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:72131763A>G	uc004ahh.2	-	1	640	c.364T>C	c.(364-366)Tac>Cac	p.Y122H		NM_001163	NP_001154	Q02410	APBA1_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family A, member 1 (APBA1), mRNA.	122					axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						TCGGGCCGGTACTGCACAGCA	0.731000														25			3		0	0	1	0	0
DOCK8	81704	broad.mit.edu	37	9	328087	328087	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:328087G>A	uc003zgf.2	+	8	1072	c.960G>A	c.(958-960)acG>acA	p.T320T	DOCK8_uc011lls.1_Silent_p.T320T|DOCK8_uc022bcu.1_Silent_p.T252T|DOCK8_uc010mgv.3_Silent_p.T252T|DOCK8_uc010mgu.3_5'UTR|DOCK8_uc003zgg.3_Silent_p.T252T|DOCK8_uc022bct.1_Non-coding_Transcript	NM_203447	NP_001180465	Q8NF50	DOCK8_HUMAN	Homo sapiens dedicator of cytokinesis 8 (DOCK8), transcript variant 1, mRNA.	320					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		GAGCTCACACGCCTTCAGTGG	0.458000														35			24		0	0	1	0	0
GALNT2	2590	broad.mit.edu	37	1	230372444	230372444	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:230372444C>T	uc010pwa.1	+	5	652	c.580C>T	c.(580-582)Cga>Tga	p.R194*	GALNT2_uc010pvy.1_Nonsense_Mutation_p.R156*|GALNT2_uc010pvz.1_Non-coding_Transcript	NM_004481	NP_004472	Q10471	GALT2_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2) (GALNT2), mRNA.	194	Catalytic subdomain A.				immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	Golgi cisterna membrane|extracellular region|integral to Golgi membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				TGAGAAAGTGCGAGTTCTTAG	0.403000														116			11		0	0	1	0	0
ZNF107	51427	broad.mit.edu	37	7	64168631	64168631	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:64168631C>T	uc003ttd.3	+	6	2735	c.1949C>T	c.(1948-1950)aCc>aTc	p.T650I	ZNF107_uc003tte.3_Missense_Mutation_p.T650I	NM_016220	NP_057304	Q9UII5	ZN107_HUMAN	Homo sapiens zinc finger protein 107 (ZNF107), transcript variant 1, mRNA.	650					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				TGCTCCTCAACCCTTAATAGA	0.373000														43			4		0	0	1	0	0
RSPO2	340419	broad.mit.edu	37	8	108913404	108913404	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:108913404T>G	uc003yms.3	-	5	1289	c.631A>C	c.(631-633)Aag>Cag	p.K211Q	RSPO2_uc003ymq.3_Missense_Mutation_p.K144Q|RSPO2_uc003ymr.3_Missense_Mutation_p.K147Q	NM_178565	NP_848660	Q6UXX9	RSPO2_HUMAN	Homo sapiens R-spondin 2 (RSPO2), mRNA.	211					Wnt receptor signaling pathway	extracellular region	heparin binding		EIF3E/RSPO2(6)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	28			OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)			tccttcgccttTGGTGTTCTC	0.423000														22			14		0	0	1	0	0
SLC35C1	55343	broad.mit.edu	37	11	45827637	45827637	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:45827637C>T	uc001nbp.3	+	0	997	c.285C>T	c.(283-285)gcC>gcT	p.A95A	SLC35C1_uc001nbo.3_Silent_p.A82A|SLC35C1_uc010rgm.2_Silent_p.A82A	NM_018389	NP_001138738	Q96A29	FUCT1_HUMAN	Homo sapiens solute carrier family 35, member C1 (SLC35C1), transcript variant 1, mRNA.	95						Golgi membrane|integral to membrane	GDP-fucose transmembrane transporter activity			endometrium(3)|kidney(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10				GBM - Glioblastoma multiforme(35;0.227)		GCGCTCTGGCCGCCTGCTGCC	0.667000														26			14		0	0	1	0	0
POT1	25913	broad.mit.edu	37	7	124493083	124493083	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:124493083T>C	uc003vlm.3	-	9	1413	c.812A>G	c.(811-813)tAc>tGc	p.Y271C	POT1_uc011koe.2_Non-coding_Transcript|POT1_uc003vlk.3_Non-coding_Transcript|POT1_uc003vll.3_Non-coding_Transcript|POT1_uc003vln.3_Non-coding_Transcript|POT1_uc003vlo.3_Missense_Mutation_p.Y140C	NM_015450	NP_001036059	Q9NUX5	POTE1_HUMAN	Homo sapiens protection of telomeres 1 homolog (S. pombe) (POT1), transcript variant 1, mRNA.	271	DNA binding.				DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase	nuclear telomere cap complex|nucleoplasm	DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						TCCCCGACCGTAACTGGTACC	0.348000														59			6		0	0	1	0	0
NCOR1	9611	broad.mit.edu	37	17	16042399	16042399	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:16042399C>A	uc002gpo.3	-	11	1544	c.1275G>T	c.(1273-1275)gaG>gaT	p.E425D	NCOR1_uc002gpn.3_Missense_Mutation_p.E425D|NCOR1_uc002gpp.1_Missense_Mutation_p.E316D|NCOR1_uc002gpr.3_Missense_Mutation_p.E316D|NCOR1_uc002gps.2_Missense_Mutation_p.E434D|NCOR1_uc010cpb.2_Missense_Mutation_p.E434D|NCOR1_uc010coz.2_Missense_Mutation_p.E241D|NCOR1_uc010cpa.2_Missense_Mutation_p.E425D|U6_uc021tqq.1_5'Flank	NM_006311	NP_006302	O75376	NCOR1_HUMAN	Homo sapiens nuclear receptor corepressor 1 (NCOR1), transcript variant 1, mRNA.	425					cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		TCATAGGGTCCTCCATAAGCC	0.353000														29			6		0.217242	0.21859	1	1	0
CLEC12B	387837	broad.mit.edu	37	12	10168241	10168241	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:10168241T>C	uc001qwz.2	+	4	723	c.595T>C	c.(595-597)Ttt>Ctt	p.F199L	CLEC12B_uc001qwx.2_Missense_Mutation_p.F199L|CLEC12B_uc001qwy.2_Missense_Mutation_p.F96L|CLEC12B_uc009zhe.2_Non-coding_Transcript	NM_001129998	NP_001123470	Q2HXU8	CL12B_HUMAN	Homo sapiens C-type lectin domain family 12, member B (CLEC12B), transcript variant 1, mRNA.	199	C-type lectin.					integral to membrane|plasma membrane	receptor activity|sugar binding			central_nervous_system(2)|large_intestine(2)|lung(5)	9						ATTACTCATGTTTTCGTTCTT	0.428000														71			43		0	0	1	0	0
PSRC1	84722	broad.mit.edu	37	1	109823528	109823528	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:109823528G>A	uc001dxj.3	-	4	1011	c.865C>T	c.(865-867)Cga>Tga	p.R289*	PSRC1_uc001dxb.3_Nonsense_Mutation_p.R89*|PSRC1_uc001dxc.3_Nonsense_Mutation_p.R259*|PSRC1_uc001dxd.3_Nonsense_Mutation_p.R259*|PSRC1_uc001dxf.3_Missense_Mutation_p.P225L	NM_032636	NP_116025	Q6PGN9	PSRC1_HUMAN	Homo sapiens proline/serine-rich coiled-coil 1 (PSRC1), transcript variant 1, mRNA.	289	Pro/Ser-rich.				cell division|microtubule bundle formation|mitotic metaphase plate congression|negative regulation of cell growth|positive regulation of microtubule polymerization|positive regulation of transcription, DNA-dependent|regulation of mitotic spindle organization	cytosol|midbody|spindle pole	microtubule binding			endometrium(1)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	7		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0286)|Lung(183;0.0658)|COAD - Colon adenocarcinoma(174;0.112)|Epithelial(280;0.188)|all cancers(265;0.213)		AGTGGCATTCGGCTGGCAGGC	0.612000														22			38		0	0	1	0	0
LOXL2	4017	broad.mit.edu	37	8	23217682	23217682	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:23217682G>A	uc003xdh.1	-	2	791	c.452C>T	c.(451-453)aCg>aTg	p.T151M	LOC100507156_uc003xdj.3_Intron	NM_002318	NP_002309	Q9Y4K0	LOXL2_HUMAN	Homo sapiens lysyl oxidase-like 2 (LOXL2), mRNA.	151	SRCR 1.				aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity	p.T151M(2)		breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		GACATCCTCCGTGTGCTTGCA	0.527000														25			13		0	0	1	0	0
ACYP1	97	broad.mit.edu	37	14	75520158	75520158	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:75520158T>G	uc001xrg.3	-	2	377	c.289A>C	c.(289-291)Att>Ctt	p.I97L	MLH3_uc001xrd.1_5'Flank|MLH3_uc001xre.1_5'Flank|ACYP1_uc001xrf.3_3'UTR	NM_001107	NP_001098	P07311	ACYP1_HUMAN	Homo sapiens acylphosphatase 1, erythrocyte (common) type (ACYP1), transcript variant 1, mRNA.	97	Acylphosphatase-like.				phosphate metabolic process		acylphosphatase activity			large_intestine(2)	2				BRCA - Breast invasive adenocarcinoma(234;0.00646)		TATTTTACAATTTGGAAGTCT	0.313000														93			12		0	0	1	0	0
FTHL17	53940	broad.mit.edu	37	X	31089585	31089585	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:31089585C>T	uc004dcl.1	-	0	586	c.486G>A	c.(484-486)ccG>ccA	p.P162P		NM_031894	NP_114100	Q9BXU8	FHL17_HUMAN	Homo sapiens ferritin, heavy polypeptide-like 17 (FTHL17), mRNA.	162					cellular iron ion homeostasis|iron ion transport		ferric iron binding|oxidoreductase activity			endometrium(2)|large_intestine(2)|liver(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	23						GGCCGGCTTCCGGGGAACAAA	0.612000														25			15		0	0	1	0	0
LZTR1	8216	broad.mit.edu	37	22	21343119	21343119	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:21343119G>T	uc002zto.3	+	5	654	c.551G>T	c.(550-552)aGt>aTt	p.S184I	LZTR1_uc002ztn.3_Missense_Mutation_p.S143I|LZTR1_uc011ahy.2_Missense_Mutation_p.S165I|LZTR1_uc010gsr.1_Missense_Mutation_p.S55I	NM_006767	NP_006758	Q8N653	LZTR1_HUMAN	Homo sapiens leucine-zipper-like transcription regulator 1 (LZTR1), mRNA.	184					anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity	p.S184S(1)		breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			ACGGTGTACAGTGACAAGCTG	0.652000														60			22		3.73808e-20	4.82081e-20	1	1	0
PEG10	23089	broad.mit.edu	37	7	94293536	94293536	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:94293536T>C	uc003uno.3	+	1	1147	c.668T>C	c.(667-669)gTc>gCc	p.V223A	PEG10_uc011kie.2_Missense_Mutation_p.V299A|PEG10_uc022ahn.1_Missense_Mutation_p.V223A	NM_015068	NP_055883	Q86TG7	PEG10_HUMAN	Homo sapiens paternally expressed 10 (PEG10), transcript variant 1, mRNA.	223	Necessary for interaction with ALK1.				apoptosis|cell differentiation|negative regulation of transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	p.V223V(1)		NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(9)|prostate(3)|skin(1)	21	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			CACCTCGAGGTCGCCAAGTCG	0.622000														102			11		0	0	1	0	0
CNNM4	26504	broad.mit.edu	37	2	97474383	97474383	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:97474383C>A	uc002swx.3	+	5	2132	c.2034C>A	c.(2032-2034)acC>acA	p.T678T	CNNM4_uc010yuy.2_Silent_p.T165T	NM_020184	NP_064569	Q6P4Q7	CNNM4_HUMAN	Homo sapiens cyclin M4 (CNNM4), mRNA.	678					biomineral tissue development|ion transport|response to stimulus|visual perception	integral to membrane|plasma membrane				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						CTGCAGCAACCTTGGCAGGCA	0.607000														31			9		2.17888e-05	2.40634e-05	1	1	0
CCBL1	883	broad.mit.edu	37	9	131597777	131597777	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:131597777G>A	uc004bwh.3	-	9	1210	c.1025C>T	c.(1024-1026)aCa>aTa	p.T342I	CCBL1_uc004bwg.3_Non-coding_Transcript|CCBL1_uc010myn.3_Missense_Mutation_p.T342I|CCBL1_uc004bwj.3_Missense_Mutation_p.T292I|CCBL1_uc004bwi.3_Non-coding_Transcript|CCBL1_uc011mbl.2_Missense_Mutation_p.T436I	NM_004059	NP_004050	Q16773	KAT1_HUMAN	Homo sapiens cysteine conjugate-beta lyase, cytoplasmic (CCBL1), transcript variant 1, mRNA.	342					L-phenylalanine catabolic process|kynurenine metabolic process|tryptophan catabolic process	cytosol|nucleus	1-aminocyclopropane-1-carboxylate synthase activity|L-glutamine:pyruvate aminotransferase activity|L-phenylalanine:pyruvate aminotransferase activity|cysteine-S-conjugate beta-lyase activity|glutamine-phenylpyruvate transaminase activity|kynurenine-oxoglutarate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)	18					L-Glutamine(DB00130)|Pyridoxal Phosphate(DB00114)	TGAGATGTCTGTGATGAGGAA	0.617000														40			25		0	0	1	0	0
SULT1A2	6799	broad.mit.edu	37	16	28604833	28604833	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:28604833G>A	uc002dqg.2	-	4	780	c.429C>T	c.(427-429)taC>taT	p.Y143Y	NPIPL1_uc010vct.2_Intron|SULT1A2_uc002dqh.2_Silent_p.Y143Y	NM_177528	NP_803564	P50226	ST1A2_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 1A, phenol-preferring, member 2 (SULT1A2), transcript variant 2, mRNA.	143					3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine biosynthetic process|catecholamine metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|skin(2)	14						TGGCCATGTGGTAGAAGTGGT	0.567000														44			21		0	0	1	0	0
USP15	9958	broad.mit.edu	37	12	62783719	62783719	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:62783719C>T	uc001src.2	+	13	1870	c.1795C>T	c.(1795-1797)Cga>Tga	p.R599*	USP15_uc001srb.2_Nonsense_Mutation_p.R570*	NM_001252078	NP_001239007	Q9Y4E8	UBP15_HUMAN	Homo sapiens ubiquitin specific peptidase 15 (USP15), transcript variant 1, mRNA.	599					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		GGCTGTACCACGAAACAATAC	0.363000														18			16		0	0	1	0	0
PTX4	390667	broad.mit.edu	37	16	1537798	1537798	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:1537798C>A	uc010uvf.2	-	1	300	c.300G>T	c.(298-300)aaG>aaT	p.K100N		NM_001013658	NP_001013680	Q96A99	PTX4_HUMAN	Homo sapiens pentraxin 4, long (PTX4), mRNA.	105						extracellular region	metal ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						TCACCCAGGCCTTGAGCTGCG	0.701000														77			6		0.27861	0.27975	1	1	0
C5orf15	56951	broad.mit.edu	37	5	133295380	133295380	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:133295380C>T	uc003kyo.3	-	1	602	c.471G>A	c.(469-471)acG>acA	p.T157T		NM_020199	NP_064584	Q8NC54	KCT2_HUMAN	Homo sapiens chromosome 5 open reading frame 15 (C5orf15), mRNA.	157						integral to membrane				endometrium(2)|large_intestine(1)|lung(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00806)|Kidney(363;0.02)			CCCTGGGGCCCGTGGTCCAGT	0.478000														53			5		0	0	1	0	0
KLHL22	84861	broad.mit.edu	37	22	20796502	20796502	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:20796502G>A	uc002zsl.2	-	6	1920	c.1763C>T	c.(1762-1764)gCc>gTc	p.A588V	KLHL22_uc011ahr.2_Missense_Mutation_p.A445V	NM_032775	NP_116164	Q53GT1	KLH22_HUMAN	Homo sapiens kelch-like 22 (Drosophila) (KLHL22), transcript variant 1, mRNA.	588					cell division	Cul3-RING ubiquitin ligase complex				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	20	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			GAGCACACAGGCCGCCAGGCC	0.667000														22			8		0	0	1	0	0
KPTN	11133	broad.mit.edu	37	19	47986473	47986473	+	Splice_Site	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:47986473C>A	uc002pgy.3	-	4	499	c.395_splice	c.e4-1	p.Q132_splice	KPTN_uc010xys.2_Splice_Site|LOC100505681_uc021uwo.1_5'Flank	NM_007059	NP_008990	Q9Y664	KPTN_HUMAN	Homo sapiens kaptin (actin binding protein) (KPTN), mRNA.	132					actin filament organization|cellular component movement|sensory perception of sound	actin cytoskeleton|growth cone|microtubule organizing center|nucleus|perinuclear region of cytoplasm|stereocilium	actin binding			breast(1)|lung(3)|ovary(2)|pancreas(2)	8		all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		OV - Ovarian serous cystadenocarcinoma(262;0.000428)|all cancers(93;0.000631)|Epithelial(262;0.0153)|GBM - Glioblastoma multiforme(486;0.0694)		AGGCAGCTCTCTGTAGGCAGG	0.602000														124			51		4.86159e-25	6.3575e-25	1	1	0
JAM3	83700	broad.mit.edu	37	11	134009793	134009793	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:134009793G>T	uc001qhb.2	+	1	283	c.259G>T	c.(259-261)Gtg>Ttg	p.V87L	JAM3_uc009zcz.2_Missense_Mutation_p.V42L	NM_032801	NP_116190	Q9BX67	JAM3_HUMAN	Homo sapiens junctional adhesion molecule 3 (JAM3), transcript variant 1, mRNA.	42	Ig-like V-type.				angiogenesis|blood coagulation|regulation of neutrophil chemotaxis	cell-cell contact zone|desmosome|extracellular space|integral to membrane	integrin binding			breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)	10	all_hematologic(175;0.127)	all_cancers(12;1.06e-21)|all_epithelial(12;3.37e-16)|all_lung(97;7.03e-06)|Lung NSC(97;1.67e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0506)|Esophageal squamous(93;0.0566)		Epithelial(10;1.55e-09)|BRCA - Breast invasive adenocarcinoma(10;1.35e-08)|all cancers(11;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00402)|Lung(977;0.245)		TCGAACCCCAGTGGTACAGGA	0.438000											OREG0021547	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		29			18		3.51602e-12	4.32762e-12	1	1	0
MTMR14	64419	broad.mit.edu	37	3	9714422	9714422	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:9714422T>C	uc003brz.3	+	6	882	c.731T>C	c.(730-732)cTc>cCc	p.L244P	MTMR14_uc003bsa.3_Missense_Mutation_p.L244P|MTMR14_uc003bsb.3_Missense_Mutation_p.L244P|MTMR14_uc011ath.2_Non-coding_Transcript|MTMR14_uc010hcl.3_Intron|MTMR14_uc003bsc.3_Non-coding_Transcript	NM_001077525	NP_001070993	Q8NCE2	MTMRE_HUMAN	Homo sapiens myotubularin related protein 14 (MTMR14), transcript variant 2, mRNA.	244						perinuclear region of cytoplasm|ruffle	phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(2)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	21	Medulloblastoma(99;0.227)					GACTTCACTCTCCTCTCCATC	0.532000														51			36		0	0	1	0	0
SERPINA11	256394	broad.mit.edu	37	14	94914738	94914738	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:94914738G>T	uc001ydd.1	-	1	434	c.374C>A	c.(373-375)aCc>aAc	p.T125N		NM_001080451	NP_001073920	Q86U17	SPA11_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11 (SERPINA11), mRNA.	125					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1)	24				COAD - Colon adenocarcinoma(157;0.211)		CAGGGCAAGGGTGTGGAGGAG	0.557000														116			59		9.10829e-22	1.18094e-21	1	1	0
IRF8	3394	broad.mit.edu	37	16	85942776	85942776	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:85942776A>C	uc002fjh.3	+	2	412	c.355A>C	c.(355-357)Aaa>Caa	p.K119Q	IRF8_uc002fji.3_Missense_Mutation_p.K119Q	NM_002163	NP_002154	Q02556	IRF8_HUMAN	Homo sapiens interferon regulatory factor 8 (IRF8), mRNA.	119					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24		Prostate(104;0.0771)				GGAAGAGCAAAAATGTAACTA	0.493000														28			3		0	0	1	0	0
SEPP1	6414	broad.mit.edu	37	5	42801096	42801096	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:42801096G>A	uc011cps.2	-	5	1060	c.962C>T	c.(961-963)aCa>aTa	p.T321I	CCDC152_uc003jmx.3_3'UTR|CCDC152_uc011cpr.1_3'UTR|SEPP1_uc011cpt.2_Missense_Mutation_p.T291I|SEPP1_uc011cpu.2_Missense_Mutation_p.T291I|SEPP1_uc003jna.3_Non-coding_Transcript	NM_001093726		P49908	SEPP1_HUMAN	Homo sapiens selenoprotein P, plasma, 1 (SEPP1), transcript variant 3, mRNA.	291					response to oxidative stress	extracellular region	selenium binding			kidney(10)|large_intestine(1)|lung(4)	15						CTCTGAATCTGTGGGCAATTT	0.408000														57			32		0	0	1	0	0
FAM41C	284593	broad.mit.edu	37	1	809594	809594	+	RNA	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:809594C>T	uc001abt.4	-	1		c.999G>A								Homo sapiens family with sequence similarity 41, member C (FAM41C), non-coding RNA.																		GGTACACGGGCGAGGGCATGG	0.527000														47			39		0	0	1	0	0
FBLN7	129804	broad.mit.edu	37	2	112942849	112942849	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:112942849T>G	uc002tho.1	+	6	1151	c.880T>G	c.(880-882)Ttc>Gtc	p.F294V	FBLN7_uc010fki.1_Missense_Mutation_p.F248V|FBLN7_uc010fkj.1_Missense_Mutation_p.F160V	NM_153214	NP_694946	Q53RD9	FBLN7_HUMAN	Homo sapiens fibulin 7 (FBLN7), transcript variant 1, mRNA.	294	EGF-like 3; calcium-binding (Potential).				cell adhesion	proteinaceous extracellular matrix	calcium ion binding|heparin binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						CGGTGGAAGCTTCCAGTGTGT	0.587000														38			46		0	0	1	0	0
C1orf198	84886	broad.mit.edu	37	1	230991457	230991457	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:230991457G>A	uc001hub.3	-	1	385	c.341C>T	c.(340-342)aCt>aTt	p.T114I	C1orf198_uc009xfh.2_5'UTR|C1orf198_uc001huc.2_Intron|C1orf198_uc001hud.2_Missense_Mutation_p.T76I	NM_032800	NP_001129967	Q9H425	CA198_HUMAN	Homo sapiens chromosome 1 open reading frame 198 (C1orf198), transcript variant 1, mRNA.	114										breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	17	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				ATCTTGCCAAGTTAGATCCTG	0.388000														112			31		0	0	1	0	0
APPL2	55198	broad.mit.edu	37	12	105570695	105570695	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:105570695G>T	uc010swu.1	-	18	2007	c.1789C>A	c.(1789-1791)Ctg>Atg	p.L597M	APPL2_uc010swt.2_Missense_Mutation_p.L548M|APPL2_uc001tlf.1_Missense_Mutation_p.L591M|APPL2_uc001tlg.1_Missense_Mutation_p.L345M	NM_001251904	NP_001238833	Q8NEU8	DP13B_HUMAN	Homo sapiens adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2 (APPL2), transcript variant 2, mRNA.	591	PID.				cell cycle|cell proliferation|signal transduction	early endosome membrane|nucleus	protein binding			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						TATGTACTCAGAGATTCTTCT	0.393000														65			44		9.39024e-22	1.21676e-21	1	1	0
PRICKLE2	166336	broad.mit.edu	37	3	64133153	64133153	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:64133153G>A	uc003dmf.3	-	6	1599	c.1013C>T	c.(1012-1014)gCc>gTc	p.A338V		NM_198859	NP_942559	Q7Z3G6	PRIC2_HUMAN	Homo sapiens prickle homolog 2 (Drosophila) (PRICKLE2), mRNA.	338						cytoplasm|nuclear membrane	zinc ion binding			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		GCCAATTTTGGCACTGCGCCG	0.602000														103			59		0	0	1	0	0
ABHD2	11057	broad.mit.edu	37	15	89719101	89719101	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:89719101C>A	uc002bnj.2	+	9	1515	c.597C>A	c.(595-597)acC>acA	p.T199T	ABHD2_uc002bnk.2_Silent_p.T199T	NM_007011	NP_690888	P08910	ABHD2_HUMAN	Homo sapiens abhydrolase domain containing 2 (ABHD2), transcript variant 1, mRNA.	199						integral to membrane	carboxylesterase activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|soft_tissue(1)	23	Lung NSC(78;0.0472)|all_lung(78;0.089)					ATCCCCTGACCCAGCTGGTCG	0.532000														44			23		1.1804e-14	1.48086e-14	1	1	0
NCK1	4690	broad.mit.edu	37	3	136665137	136665137	+	Splice_Site	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:136665137G>A	uc003erh.3	+	3	1069	c.939_splice	c.e3+1	p.S313_splice	NCK1_uc011bme.2_Splice_Site_p.S249_splice	NM_006153	NP_006144	P16333	NCK1_HUMAN	Homo sapiens NCK adaptor protein 1 (NCK1), transcript variant 1, mRNA.	313	SH2.				T cell activation|T cell receptor signaling pathway|axon guidance|positive regulation of T cell proliferation|positive regulation of actin filament polymerization|regulation of translation|signal complex assembly	cytosol|endoplasmic reticulum|nucleus	cytoskeletal adaptor activity|receptor binding|receptor signaling complex scaffold activity			cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	13						GTGAATCTTCGGTAAGTTGAT	0.388000														75			29		0	0	1	0	0
MLL	4297	broad.mit.edu	37	11	118352683	118352683	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:118352683G>A	uc001pta.3	+	6	3911	c.3888G>A	c.(3886-3888)aaG>aaA	p.K1296K	MLL_uc001ptb.3_Silent_p.K1296K|MLL_uc001pte.1_Non-coding_Transcript|MLL_uc009zab.1_Missense_Mutation_p.S22N	NM_005933	NP_005924	Q03164	MLL1_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) (MLL), transcript variant 2, mRNA.	1296					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			breast(5)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(29)|lung(34)|ovary(6)|pancreas(3)|prostate(8)|skin(6)|urinary_tract(19)	131	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		AGTCAAGCAAGCAGGTCTCCC	0.557000			"""T, O"""	"""MLL, MLLT1, MLLT2, MLLT3, MLLT4, MLLT7, MLLT10, MLLT6, ELL, EPS15, AF1Q, CREBBP, SH3GL1, FNBP1, PNUTL1, MSF, GPHN, GMPS, SSH3BP1, ARHGEF12, GAS7, FOXO3A, LAF4, LCX, SEPT6, LPP, CBFA2T1, GRAF, EP300, PICALM, HEAB"""	"""AML, ALL"""									23			24		0	0	1	0	0
C8B	732	broad.mit.edu	37	1	57422504	57422504	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:57422504C>T	uc001cyp.3	-	2	396	c.329G>A	c.(328-330)tGt>tAt	p.C110Y	C8B_uc010oon.2_Missense_Mutation_p.C48Y|C8B_uc010ooo.2_Missense_Mutation_p.C58Y	NM_000066	NP_000057	P07358	CO8B_HUMAN	Homo sapiens complement component 8, beta polypeptide (C8B), mRNA.	110	TSP type-1 1.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						GTTGGTAACACAGTCTTCGAC	0.502000														252			32		0	0	1	0	0
AP2A1	160	broad.mit.edu	37	19	50309432	50309432	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:50309432C>T	uc002ppn.3	+	22	2989	c.2778C>T	c.(2776-2778)ttC>ttT	p.F926F	AP2A1_uc002ppo.3_Silent_p.F904F|AP2A1_uc010enk.3_Silent_p.F57F	NM_014203	NP_055018	O95782	AP2A1_HUMAN	Homo sapiens adaptor-related protein complex 2, alpha 1 subunit (AP2A1), transcript variant 1, mRNA.	926				ENFVGAGIIQTKALQVGCLLRLEPNAQAQMYRLTLRTSKEP VSRHLCELLAQQF -> GDREDTRVWGMPGTFLRPFVFLFL FICCCLHSGGLGGVPLPPFPPQAQRGEGPGKWMSPPLPPHP VVAPPTPSPSRGCVLL (in Ref. 4; AAH14214).	Golgi to endosome transport|axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|clathrin coat of trans-Golgi network vesicle|cytosol	protein binding|protein transporter activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)	19		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)		CTGAGAACTTCGTGGGGGCGG	0.642000														6			5		0	0	1	0	0
CPSF4	10898	broad.mit.edu	37	7	99051747	99051747	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:99051747C>T	uc003uqj.3	+	6	872	c.729C>T	c.(727-729)gtC>gtT	p.V243V	ATP5J2-PTCD1_uc011kiw.2_Intron|CPSF4_uc003uqi.3_Silent_p.V218V|CPSF4_uc003uqk.3_Silent_p.V217V|CPSF4_uc011kix.2_Silent_p.V165V	NM_006693	NP_006684	O95639	CPSF4_HUMAN	Homo sapiens cleavage and polyadenylation specific factor 4, 30kDa (CPSF4), transcript variant 1, mRNA.	243					mRNA processing|modification by virus of host mRNA processing|viral infectious cycle	mRNA cleavage and polyadenylation specificity factor complex	RNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(5)	14	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					TGGAGCAGGTCACCTGTTACA	0.602000														64			20		0	0	1	0	0
FAM69A	388650	broad.mit.edu	37	1	93341945	93341945	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:93341945A>C	uc001dpg.3	-	1	190	c.97T>G	c.(97-99)Tgg>Ggg	p.W33G	FAM69A_uc001dpc.3_Missense_Mutation_p.W33G|FAM69A_uc010otg.2_Missense_Mutation_p.W26G|FAM69A_uc021opu.1_Missense_Mutation_p.W8G|FAM69A_uc021opv.1_Intron|FAM69A_uc021opw.1_Missense_Mutation_p.W33G	NM_001006605	NP_001006606	Q5T7M9	FA69A_HUMAN	Homo sapiens family with sequence similarity 69, member A (FAM69A), transcript variant 1, mRNA.	33						endoplasmic reticulum membrane|integral to membrane		p.W33C(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)	4		all_lung(203;0.00265)|Lung NSC(277;0.00562)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)		GBM - Glioblastoma multiforme(16;0.000563)|all cancers(265;0.000751)|Epithelial(280;0.127)		ACCACTAACCAGGAAAAGAAA	0.348000														51			8		0	0	1	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971038	21971038	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:21971038C>T	uc003zpk.3	-	1	626	c.320G>A	c.(319-321)cGc>cAc	p.R107H	MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.3_3'UTR|CDKN2A_uc010miu.3_Missense_Mutation_p.R107H|CDKN2A_uc003zpl.3_Silent_p.A121A	NM_000077	NP_000068	P42771	CD2A1_HUMAN	Homo sapiens cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4) (CDKN2A), transcript variant 1, mRNA.	107			R -> C (in CMM2).|R -> H.		G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|Ras protein signal transduction|cell cycle arrest|cell cycle checkpoint|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|replicative senescence	cytosol|nucleus	NF-kappaB binding|cyclin-dependent protein kinase inhibitor activity|protein binding|protein kinase binding	p.0?(1315)|p.?(44)|p.V106V(2)|p.H83fs*2(2)|p.R107fs*33(2)|p.V106M(2)|p.R107fs*13(1)|p.D105fs*8(1)|p.0(1)|p.R107C(1)|p.A68fs*3(1)|p.D105_V106del(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CCAGGCATCGCGCACGTCCAG	0.746000		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				10			6		0	0	1	0	0
KPRP	448834	broad.mit.edu	37	1	152733255	152733255	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:152733255G>T	uc001fal.1	+	1	1249	c.1191G>T	c.(1189-1191)caG>caT	p.Q397H	KPRP_uc021ozf.1_Missense_Mutation_p.Q397H	NM_001025231	NP_001020402	Q5T749	KPRP_HUMAN	Homo sapiens keratinocyte proline-rich protein (KPRP), mRNA.	397	Pro-rich.					cytoplasm		p.L396L(1)		NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CACCACTGCAGCGATGTCCAC	0.602000														23			17		6.94344e-10	8.32448e-10	1	1	0
PCDHAC2	56134	broad.mit.edu	37	5	140203007	140203007	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140203007G>A	uc003lhl.2	+	0	1647	c.1647G>A	c.(1645-1647)acG>acA	p.T549T	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_uc003lhk.1_Silent_p.T549T|PCDHAC2_uc003lhj.1_Silent_p.T549T	NM_018908	NP_061731	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 5 (PCDHA5), transcript variant 1, mRNA.	564	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)			GCAACGTGACGCTGCAGGTGT	0.701000														55			32		0	0	1	0	0
HAT1	8520	broad.mit.edu	37	2	172848174	172848174	+	Nonsense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:172848174G>T	uc002uhi.3	+	10	1244	c.1168G>T	c.(1168-1170)Gaa>Taa	p.E390*	HAT1_uc002uhj.3_Nonsense_Mutation_p.E305*	NM_003642	NP_003633	O14929	HAT1_HUMAN	Homo sapiens histone acetyltransferase 1 (HAT1), transcript variant 1, mRNA.	390					DNA packaging|chromatin silencing at telomere	cytoplasm|nuclear matrix|nucleoplasm	histone acetyltransferase activity|protein binding			breast(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|prostate(1)	19			OV - Ovarian serous cystadenocarcinoma(117;0.216)			GAACCAAATAGAAATAAGCAT	0.368000														37			32		2.16457e-27	2.84424e-27	1	1	0
CNTRL	11064	broad.mit.edu	37	9	123886325	123886325	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:123886325G>A	uc004bkx.1	+	10	1798	c.1767G>A	c.(1765-1767)acG>acA	p.T589T	CNTRL_uc004bky.1_Silent_p.T193T|CNTRL_uc004bkz.1_Silent_p.T37T|CNTRL_uc004bla.1_Silent_p.T37T	NM_007018	NP_008949	Q7Z7A1	CNTRL_HUMAN	Homo sapiens centriolin (CNTRL), mRNA.	589					G2/M transition of mitotic cell cycle|cell division	centrosome|cytosol	protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						CTAAGGAAACGGAAGAGATTA	0.348000														67			57		0	0	1	0	0
C14orf169	79697	broad.mit.edu	37	14	73959068	73959068	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:73959068G>A	uc001xok.1	+	1	1423	c.1344G>A	c.(1342-1344)gaG>gaA	p.E448E	HEATR4_uc021rwe.1_Intron|HEATR4_uc021rwf.1_Intron	NM_024644	NP_078920	Q9H6W3	NO66_HUMAN	Homo sapiens chromosome 14 open reading frame 169 (C14orf169), mRNA.	449					negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|nucleoplasm	histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K4 specific)|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen								BRCA - Breast invasive adenocarcinoma(234;0.0033)|OV - Ovarian serous cystadenocarcinoma(108;0.215)		AAAATGTGGAGTTTCGGAGGG	0.552000														39			23		0	0	1	0	0
CLRN2	645104	broad.mit.edu	37	4	17528511	17528511	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:17528511G>A	uc003gpg.1	+	2	607	c.505G>A	c.(505-507)Gcc>Acc	p.A169T		NM_001079827	NP_001073296	A0PK11	CLRN2_HUMAN	Homo sapiens clarin 2 (CLRN2), mRNA.	169						integral to membrane				breast(1)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|upper_aerodigestive_tract(1)	15						GGAACGAATCGCCAACTTTCA	0.537000														50			4		0	0	1	0	0
TEX33	339669	broad.mit.edu	37	22	37387530	37387530	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:37387530T>C	uc003aqf.3	-	4	883	c.737A>G	c.(736-738)gAt>gGt	p.D246G	TEX33_uc003aqe.3_Missense_Mutation_p.D161G	NM_001163857	NP_848647	O43247	EAN57_HUMAN	Homo sapiens chromosome 22 open reading frame 33 (C22orf33), transcript variant 1, mRNA.	246																	ACCCAGATCATCCGTCTTCCT	0.547000														104			12		0	0	1	0	0
FRS3	10817	broad.mit.edu	37	6	41738413	41738413	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:41738413G>A	uc003orc.1	-	6	1667	c.1423C>T	c.(1423-1425)Cga>Tga	p.R475*		NM_006653	NP_006644	O43559	FRS3_HUMAN	Homo sapiens fibroblast growth factor receptor substrate 3 (FRS3), mRNA.	475					fibroblast growth factor receptor signaling pathway	plasma membrane	fibroblast growth factor receptor binding|insulin receptor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CCATCGTCTCGGGGCAGAGCT	0.632000														47			34		0	0	1	0	0
BEND3	57673	broad.mit.edu	37	6	107390158	107390158	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:107390158C>T	uc003prs.2	-	4	2887	c.2237G>A	c.(2236-2238)cGc>cAc	p.R746H		NM_001080450	NP_001073919	Q5T5X7	BEND3_HUMAN	Homo sapiens BEN domain containing 3 (BEND3), mRNA.	746	BEN 4.									central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						GGGAAACAGGCGGACGAGGAG	0.632000														32			21		0	0	1	0	0
GEMIN7	79760	broad.mit.edu	37	19	45593756	45593756	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:45593756C>A	uc002pap.1	+	2	535	c.384C>A	c.(382-384)acC>acA	p.T128T	PPP1R37_uc021uvs.1_5'Flank|GEMIN7_uc002paq.1_Silent_p.T128T|GEMIN7_uc002par.1_Silent_p.T128T|GEMIN7_uc021uvr.1_Silent_p.T128T	NM_001007270	NP_078983	Q9H840	GEMI7_HUMAN	Homo sapiens gem (nuclear organelle) associated protein 7 (GEMIN7), transcript variant 3, mRNA.	128					ncRNA metabolic process|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding			endometrium(1)|kidney(1)|lung(4)|ovary(1)	7		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0131)		TTTCATATACCTTCAAGCCAT	0.517000														19			10		0.0581538	0.0591027	1	1	0
NAF1	92345	broad.mit.edu	37	4	164050495	164050495	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:164050495C>A	uc003iqj.3	-	7	1233	c.1039G>T	c.(1039-1041)Gat>Tat	p.D347Y	NAF1_uc010iqw.1_Intron	NM_138386	NP_612395	Q96HR8	NAF1_HUMAN	Homo sapiens nuclear assembly factor 1 homolog (S. cerevisiae) (NAF1), transcript variant 1, mRNA.	347					rRNA processing|snRNA pseudouridine synthesis	cytoplasm|nucleus|small nucleolar ribonucleoprotein complex	protein binding|snoRNA binding			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)	21	all_hematologic(180;0.166)	Prostate(90;0.109)				TCAGTAAAATCTTCACCTTTG	0.343000														37			18		1.99824e-07	2.30332e-07	1	1	0
GPR132	29933	broad.mit.edu	37	14	105517744	105517744	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:105517744C>T	uc001yqd.3	-	3	1629	c.730G>A	c.(730-732)Gcc>Acc	p.A244T	GPR132_uc001yqc.3_Missense_Mutation_p.A56T|GPR132_uc001yqe.3_Missense_Mutation_p.A235T	NM_013345	NP_037477	Q9UNW8	GP132_HUMAN	Homo sapiens G protein-coupled receptor 132 (GPR132), mRNA.	244					response to stress	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	18		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)		ACCGCGATGGCCGAGTGCTTC	0.567000														46			25		0	0	1	0	0
ABCC9	10060	broad.mit.edu	37	12	22068693	22068693	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:22068693G>T	uc001rfh.3	-	4	745	c.725C>A	c.(724-726)cCt>cAt	p.P242H	ABCC9_uc001rfi.1_Missense_Mutation_p.P242H	NM_020297	NP_064693	O60706	ABCC9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	242					defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	p.P242P(1)		NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	CAGATCAATAGGCTTTTTGTG	0.368000														54			26		2.64397e-27	3.47258e-27	1	1	0
PLEKHG4	25894	broad.mit.edu	37	16	67318663	67318663	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:67318663G>A	uc010cef.3	+	12	2039	c.1740G>A	c.(1738-1740)gaG>gaA	p.E580E	PLEKHG4_uc002eso.4_Silent_p.E580E|PLEKHG4_uc002esp.4_Silent_p.E387E|PLEKHG4_uc002esq.4_Silent_p.E580E|PLEKHG4_uc002ess.4_Silent_p.E580E|PLEKHG4_uc010ceg.3_Silent_p.E499E	NM_001129728	NP_056247	Q58EX7	PKHG4_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 4 (PLEKHG4), transcript variant 3, mRNA.	580					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		CAGAGCTGGAGCAGGAACGCC	0.632000														14			12		0	0	1	0	0
ZC3H4	23211	broad.mit.edu	37	19	47572495	47572495	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:47572495C>T	uc002pga.4	-	13	2290	c.2252G>A	c.(2251-2253)cGg>cAg	p.R751Q	ZC3H4_uc002pgb.1_Intron	NM_015168	NP_055983	Q9UPT8	ZC3H4_HUMAN	Homo sapiens zinc finger CCCH-type containing 4 (ZC3H4), mRNA.	751							nucleic acid binding|zinc ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		TGGCTTCGGCCGGCCTGGGGG	0.677000														16			18		0	0	1	0	0
FGFRL1	53834	broad.mit.edu	37	4	1018732	1018732	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:1018732C>T	uc003gce.3	+	6	1273	c.1112C>T	c.(1111-1113)tCg>tTg	p.S371L	FGFRL1_uc003gcf.3_Missense_Mutation_p.S371L|FGFRL1_uc003gcg.3_Missense_Mutation_p.S371L|FGFRL1_uc010ibo.3_Missense_Mutation_p.S371L	NM_021923	NP_068742	Q8N441	FGRL1_HUMAN	Homo sapiens fibroblast growth factor receptor-like 1 (FGFRL1), transcript variant 3, mRNA.	371					regulation of cell growth	integral to membrane|plasma membrane	fibroblast growth factor receptor activity|heparin binding			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			TCCTCGTCCTCGGCCACTAGC	0.647000														16			14		0	0	1	0	0
ZNF692	55657	broad.mit.edu	37	1	249151477	249151477	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:249151477C>T	uc001ifc.2	-	3	642	c.431G>A	c.(430-432)cGg>cAg	p.R144Q	ZNF692_uc001iez.2_5'Flank|ZNF692_uc001ifb.2_5'UTR|ZNF692_uc010pzr.2_Missense_Mutation_p.R149Q|ZNF692_uc001iff.2_Missense_Mutation_p.R144Q	NM_017865	NP_060335	Q9BU19	ZN692_HUMAN	Homo sapiens zinc finger protein 692 (ZNF692), transcript variant 2, mRNA.	144					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(6)|lung(7)|stomach(1)	17	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			CCAACTTCTCCGAGTAGTATG	0.547000														58			45		0	0	1	0	0
SBF1	6305	broad.mit.edu	37	22	50905974	50905974	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:50905974G>A	uc003blh.3	-	3	620	c.425C>T	c.(424-426)aCg>aTg	p.T142M	SBF1_uc011arx.2_5'Flank|SBF1_uc003bli.2_Missense_Mutation_p.T143M	NM_002972	NP_002963	O95248	MTMR5_HUMAN	Homo sapiens SET binding factor 1 (SBF1), mRNA.	142	DENN.				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		GAACACCTCCGTGTGGTCGAG	0.657000														37			47		0	0	1	0	0
PROM2	150696	broad.mit.edu	37	2	95944853	95944853	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:95944853G>A	uc002suk.3	+	9	1368	c.1235G>A	c.(1234-1236)cGc>cAc	p.R412H	PROM2_uc002suh.2_Missense_Mutation_p.R412H|PROM2_uc002sui.3_Missense_Mutation_p.R412H|PROM2_uc002suj.3_Missense_Mutation_p.R66H|PROM2_uc002sul.3_5'UTR|PROM2_uc002sum.3_5'Flank	NM_001165977	NP_653308	Q8N271	PROM2_HUMAN	Homo sapiens prominin 2 (PROM2), transcript variant 2, mRNA.	412						apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						GAGAGCAGCCGCCCCTACCTG	0.682000														10			8		0	0	1	0	0
LOC645752	645752	broad.mit.edu	37	15	78208009	78208009	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:78208009C>T	uc010bky.2	-	15	1841	c.1077G>A	c.(1075-1077)agG>agA	p.R359R	LOC645752_uc010umq.1_Silent_p.R6R|DQ572823_uc002bcw.1_5'Flank|DQ582073_uc002bcx.1_5'Flank					Homo sapiens golgi autoantigen, golgin subfamily a, 6 pseudogene (LOC645752), non-coding RNA.																		TCTGGGCCAGCCTGATGACAT	0.607000														64			27		0	0	1	0	0
PREP	5550	broad.mit.edu	37	6	105771585	105771585	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:105771585C>A	uc003prc.3	-	9	1505	c.1272G>T	c.(1270-1272)gaG>gaT	p.E424D		NM_002726	NP_002717	P48147	PPCE_HUMAN	Homo sapiens prolyl endopeptidase (PREP), mRNA.	424					proteolysis		serine-type endopeptidase activity			breast(1)|endometrium(2)|large_intestine(7)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202)			Oxytocin(DB00107)	TTACGGTCACCTCTCGGAAAA	0.418000														122			7		0.248553	0.249802	1	1	0
MAP1LC3A	84557	broad.mit.edu	37	20	33147675	33147675	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:33147675C>T	uc002xaq.1	+	3	493	c.339C>T	c.(337-339)taC>taT	p.Y113Y	MAP1LC3A_uc002xap.1_Silent_p.Y117Y	NM_032514	NP_115903	Q9H492	MLP3A_HUMAN	Homo sapiens microtubule-associated protein 1 light chain 3 alpha (MAP1LC3A), transcript variant 1, mRNA.	113					autophagic vacuole assembly	autophagic vacuole membrane|cytoplasmic vesicle|cytosol|endomembrane system|microtubule	phosphatidylethanolamine binding|protein binding			cervix(1)|kidney(1)|large_intestine(1)|upper_aerodigestive_tract(2)	5						ATATGGTCTACGCCTCCCAGG	0.637000														33			19		0	0	1	0	0
ZNF567	163081	broad.mit.edu	37	19	37211222	37211222	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:37211222C>A	uc010xtl.2	+	5	1818	c.1596C>A	c.(1594-1596)ccC>ccA	p.P532P	ZNF567_uc002oeo.1_Silent_p.P532P|ZNF567_uc010xtk.1_Silent_p.P532P|ZNF567_uc002oep.4_Silent_p.P501P|ZNF567_uc002oeq.1_Silent_p.P501P	NM_152603	NP_689816	Q8N184	ZN567_HUMAN	Homo sapiens zinc finger protein 567 (ZNF567), mRNA.	532					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			GGGAGAAACCCTATGTTTGTA	0.393000														68			7		0.000157383	0.000170012	1	1	0
FNBP1	23048	broad.mit.edu	37	9	132719709	132719709	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:132719709G>A	uc004byw.1	-	5	662	c.443C>T	c.(442-444)gCg>gTg	p.A148V	FNBP1_uc011mbv.1_Missense_Mutation_p.A148V|FNBP1_uc011mbw.1_Missense_Mutation_p.A148V|FNBP1_uc004bza.2_Missense_Mutation_p.A148V|FNBP1_uc004byz.1_Missense_Mutation_p.A148V|FNBP1_uc004byx.1_Missense_Mutation_p.A69V|FNBP1_uc004byy.1_Missense_Mutation_p.A69V	NM_015033	NP_055848	Q96RU3	FNBP1_HUMAN	Homo sapiens formin binding protein 1 (FNBP1), mRNA.	148	Interaction with microtubules (By similarity).|Self-association, lipid-binding and induction of membrane tubulation.				endocytosis	cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|lysosome|plasma membrane	identical protein binding|lipid binding						Ovarian(14;0.000536)		GBM - Glioblastoma multiforme(294;0.0378)		CGCCCTGTCCGCCTCTTTGCA	0.428000			T	MLL	AML									17			17		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140347266	140347266	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140347266G>A	uc003lii.3	+	0	1520	c.915G>A	c.(913-915)agG>agA	p.R305R	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lif.2_Intron|PCDHAC2_uc003lie.1_Intron|PCDHAC2_uc003lih.2_Intron|PCDHAC2_uc011dag.2_Silent_p.R305R	NM_018899	NP_061722	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha subfamily C, 2 (PCDHAC2), transcript variant 1, mRNA.	305	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)			ACCGGGAGAGGCAGCTCTTCA	0.572000														15			8		0	0	1	0	0
DENND5A	23258	broad.mit.edu	37	11	9172281	9172281	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:9172281G>T	uc001mhl.3	-	13	2809	c.2552C>A	c.(2551-2553)tCt>tAt	p.S851Y	DENND5A_uc001mhk.3_Missense_Mutation_p.S194Y|DENND5A_uc010rbw.2_Missense_Mutation_p.S851Y|DENND5A_uc010rbx.2_Non-coding_Transcript	NM_015213	NP_056028	Q6IQ26	DEN5A_HUMAN	Homo sapiens DENN/MADD domain containing 5A (DENND5A), transcript variant 1, mRNA.	851	RUN 1.									breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GCTGGCATCAGACTTCCTACG	0.438000														39			19		1.2644e-06	1.43864e-06	1	1	0
RPS6KA2	6196	broad.mit.edu	37	6	167271707	167271707	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:167271707G>A	uc003qvd.1	-	1	217	c.104C>T	c.(103-105)aCa>aTa	p.T35I	RPS6KA2_uc003qvc.1_Missense_Mutation_p.T35I	NM_021135	NP_066958	Q15349	KS6A2_HUMAN	Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 2 (RPS6KA2), transcript variant 1, mRNA.	0					MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|axon guidance|innate immune response|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.E35K(1)|p.E35Q(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		AGTGTCTTCTGTGGTGGGCTC	0.458000														85			11		0	0	1	0	0
CELSR3	1951	broad.mit.edu	37	3	48679324	48679324	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:48679324G>A	uc003cuf.1	-	33	9078	c.9078C>T	c.(9076-9078)tgC>tgT	p.C3026C	CELSR3_uc010hkf.3_Silent_p.C218C|CELSR3_uc010hkg.3_Silent_p.C911C|CELSR3_uc003cul.3_Silent_p.C2928C	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA.	2928					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding	p.A3026V(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GGGCTGCTCGGCAGAGTGGCC	0.617000														3			4		0	0	1	0	0
SPDYE7P	441251	broad.mit.edu	37	7	72338191	72338191	+	RNA	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:72338191C>A	uc010lal.1	-	0		c.1465G>T								Homo sapiens speedy homolog E7 (Xenopus laevis), pseudogene (SPDYE7P), non-coding RNA.																		AAGCTGCGCCCTCCCCCCAGC	0.473000														90			33		1.08312e-15	1.366e-15	1	1	0
ZNF324B	388569	broad.mit.edu	37	19	58967882	58967882	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58967882G>A	uc002qsv.1	+	3	1678	c.1571G>A	c.(1570-1572)gGa>gAa	p.G524E	ZNF324B_uc002qsu.1_Missense_Mutation_p.G514E|ZNF324B_uc010euq.1_Missense_Mutation_p.G524E	NM_207395	NP_997278	Q6AW86	Z324B_HUMAN	Homo sapiens zinc finger protein 324B (ZNF324B), mRNA.	524					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		TTCCTTCAGGGACATCATCGG	0.632000														35			22		0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38998068	38998068	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:38998068G>A	uc021yzh.1	+	92	14133	c.14024G>A	c.(14023-14025)cGa>cAa	p.R4675Q	DNAH8_uc003ooe.2_Missense_Mutation_p.R4458Q	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AAACCCAGGCGAACTGATTTG	0.488000														26			29		0	0	1	0	0
SETD5	55209	broad.mit.edu	37	3	9487358	9487358	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:9487358A>C	uc003brt.3	+	12	1893	c.1458A>C	c.(1456-1458)gaA>gaC	p.E486D	SETD5_uc003brs.1_Missense_Mutation_p.E467D|SETD5_uc003bru.3_Missense_Mutation_p.E388D|SETD5_uc003brv.3_Missense_Mutation_p.E375D|SETD5_uc010hck.3_5'UTR|SETD5_uc003brw.1_3'UTR|SETD5_uc003brx.3_Missense_Mutation_p.E155D	NM_001080517	NP_001073986	Q9C0A6	SETD5_HUMAN	Homo sapiens SET domain containing 5 (SETD5), mRNA.	486										NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		ACAATCCAGAAGAAAAACCAG	0.393000														33			17		0	0	1	0	0
USP34	9736	broad.mit.edu	37	2	61508367	61508367	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:61508367C>T	uc002sbe.3	-	37	5031	c.5009G>A	c.(5008-5010)cGt>cAt	p.R1670H	USP34_uc002sbf.3_5'Flank	NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	Homo sapiens ubiquitin specific peptidase 34 (USP34), mRNA.	1670					Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			TGATTCATGACGAACTGCAGT	0.368000														25			14		0	0	1	0	0
ZCWPW1	55063	broad.mit.edu	37	7	100006188	100006188	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100006188G>T	uc003uut.3	-	9	1211	c.963C>A	c.(961-963)atC>atA	p.I321I	ZCWPW1_uc011kjq.2_Silent_p.I201I|ZCWPW1_uc003uur.3_Silent_p.I201I|ZCWPW1_uc003uus.3_Silent_p.I201I|ZCWPW1_uc011kjr.2_Silent_p.I321I|ZCWPW1_uc003uuu.1_Silent_p.I322I|ZCWPW1_uc011kjp.2_Non-coding_Transcript	NM_017984	NP_060454	Q9H0M4	ZCPW1_HUMAN	Homo sapiens zinc finger, CW type with PWWP domain 1 (ZCWPW1), mRNA.	321	PWWP.						zinc ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GCTTGGCCCAGATGATGGATC	0.512000														59			68		1.88737e-50	2.51556e-50	1	1	0
PASK	23178	broad.mit.edu	37	2	242076463	242076463	+	Missense_Mutation	SNP	C	T	T	rs145134713		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:242076463C>T	uc002wao.2	-	6	1226	c.1093G>A	c.(1093-1095)Gcg>Acg	p.A365T	PASK_uc010zol.2_Missense_Mutation_p.A179T|PASK_uc010zom.2_Missense_Mutation_p.A330T|PASK_uc010fzl.2_Missense_Mutation_p.A365T|PASK_uc010zon.2_Missense_Mutation_p.A146T|PASK_uc021vzf.1_Missense_Mutation_p.A365T|PASK_uc002wap.3_5'Flank|PASK_uc002waq.3_Missense_Mutation_p.A365T	NM_015148	NP_055963	Q96RG2	PASK_HUMAN	Homo sapiens PAS domain containing serine/threonine kinase (PASK), transcript variant 2, mRNA.	365	PAS 2.				regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity	p.A365V(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		AGTGTCAGCGCGAAGCTGTGG	0.632000														32			18		0	0	1	0	0
VPS33A	65082	broad.mit.edu	37	12	122716899	122716899	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:122716899C>T	uc001ucd.3	-	12	1798	c.1685G>A	c.(1684-1686)cGa>cAa	p.R562Q	VPS33A_uc001ucc.3_Non-coding_Transcript	NM_022916	NP_075067	Q96AX1	VP33A_HUMAN	Homo sapiens vacuolar protein sorting 33 homolog A (S. cerevisiae) (VPS33A), mRNA.	562					lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis	early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	28	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23)		GGAGAGAAATCGCAGGGCAGC	0.428000														86			54		0	0	1	0	0
PKN2	5586	broad.mit.edu	37	1	89251812	89251812	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:89251812C>T	uc001dmn.3	+	7	1539	c.1197C>T	c.(1195-1197)ctC>ctT	p.L399L	PKN2_uc010osp.2_Silent_p.L383L|PKN2_uc010osq.2_Silent_p.L242L|PKN2_uc009wcv.3_Silent_p.L399L|PKN2_uc010osr.2_Silent_p.L64L	NM_006256	NP_006247	Q16513	PKN2_HUMAN	Homo sapiens protein kinase N2 (PKN2), mRNA.	399	C2.				signal transduction	cytoplasm	ATP binding|histone deacetylase binding|protein kinase C activity			breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1)	33		Lung NSC(277;0.123)		all cancers(265;0.0136)|Epithelial(280;0.0301)		TTTTGAAGCTCGATAATACTG	0.368000														44			8		0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2656628	2656628	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:2656628C>T	uc001qkv.1	+	2	290	c.38C>T	c.(37-39)gCg>gTg	p.A13V	CACNA1C_uc001qkc.2_Intron|CACNA1C_uc001qjz.2_Intron|CACNA1C_uc001qkd.2_Intron|CACNA1C_uc001qke.2_Intron|CACNA1C_uc001qkf.2_Intron|CACNA1C_uc009zdw.1_Intron|CACNA1C_uc001qkg.2_Intron|CACNA1C_uc001qkh.2_Intron|CACNA1C_uc001qkl.2_Intron|CACNA1C_uc001qkj.2_Intron|CACNA1C_uc001qkk.2_Intron|CACNA1C_uc001qkn.2_Intron|CACNA1C_uc001qkm.2_Intron|CACNA1C_uc001qko.2_Intron|CACNA1C_uc001qkp.2_Intron|CACNA1C_uc001qkq.2_Intron|CACNA1C_uc001qku.2_Intron|CACNA1C_uc001qkr.2_Intron|CACNA1C_uc001qks.2_Intron|CACNA1C_uc001qkt.2_Intron|CACNA1C_uc009zdu.1_Intron|CACNA1C_uc009zdv.1_Intron|CACNA1C_uc001qkb.2_Intron|CACNA1C_uc001qka.1_Intron|CACNA1C_uc001qki.1_Intron|CACNA1C_uc009zdy.1_Intron			Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 20, mRNA.	463					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	GGCACTCCGGCGGGCATGCTT	0.493000														16			12		0	0	1	0	0
SLC9A1	6548	broad.mit.edu	37	1	27426801	27426801	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:27426801C>T	uc001bnm.3	-	11	3071	c.2445G>A	c.(2443-2445)caG>caA	p.Q815Q	SLC9A1_uc001bnl.3_Silent_p.Q319Q|SLC9A1_uc010ofk.2_Silent_p.Q476Q	NM_003047	NP_003038	P19634	SL9A1_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 1 (SLC9A1), mRNA.	815					regulation of pH	integral to membrane	sodium:hydrogen antiporter activity			central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046)	Amiloride(DB00594)	CCTGGTGTTACTGCCCCTTGG	0.667000														15			11		0	0	1	0	0
ISLR2	57611	broad.mit.edu	37	15	74425584	74425584	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:74425584G>A	uc002axd.3	+	3	1258	c.489G>A	c.(487-489)gcG>gcA	p.A163A	ISLR2_uc002axe.3_Silent_p.A163A|ISLR2_uc010bjg.3_Silent_p.A163A|ISLR2_uc010bjf.3_Silent_p.A163A|ISLR2_uc021sqe.1_Silent_p.A163A	NM_001130136	NP_065902	Q6UXK2	ISLR2_HUMAN	Homo sapiens immunoglobulin superfamily containing leucine-rich repeat 2 (ISLR2), transcript variant 1, mRNA.	163					positive regulation of axon extension	cell surface|integral to membrane|plasma membrane				breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						GTACGCTGGCGCCTGGCACCT	0.657000														76			8		0	0	1	0	0
NFATC3	4775	broad.mit.edu	37	16	68225673	68225673	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:68225673A>G	uc002evo.2	+	8	3417	c.3101A>G	c.(3100-3102)gAt>gGt	p.D1034G	NFATC3_uc010vkl.2_Missense_Mutation_p.D555G|NFATC3_uc010vkm.2_Missense_Mutation_p.D555G|NFATC3_uc010vkn.2_Missense_Mutation_p.D555G|NFATC3_uc010vko.2_Missense_Mutation_p.D555G|NFATC3_uc010vkp.2_Missense_Mutation_p.D555G|NFATC3_uc010vkq.2_Missense_Mutation_p.D555G|NFATC3_uc002evl.3_Missense_Mutation_p.D555G|NFATC3_uc002evk.3_Missense_Mutation_p.D1034G|NFATC3_uc002evm.2_Missense_Mutation_p.D1034G|NFATC3_uc002evn.2_Missense_Mutation_p.D1034G|NFATC3_uc010vkr.2_Missense_Mutation_p.D555G|NFATC3_uc010vks.2_Missense_Mutation_p.D555G|NFATC3_uc010vkt.2_Missense_Mutation_p.D555G|NFATC3_uc010vku.2_Missense_Mutation_p.D555G|NFATC3_uc010vkv.2_Missense_Mutation_p.D555G|NFATC3_uc010vkw.2_Missense_Mutation_p.D555G|NFATC3_uc010vkx.2_Missense_Mutation_p.D555G|NFATC3_uc010vky.2_Missense_Mutation_p.D555G|NFATC3_uc010vkz.2_Missense_Mutation_p.D555G|NFATC3_uc010vla.2_Missense_Mutation_p.D555G|NFATC3_uc010vlb.2_Missense_Mutation_p.D555G|NFATC3_uc010vlc.2_Missense_Mutation_p.D555G	NM_173165	NP_775188	Q12968	NFAC3_HUMAN	Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3 (NFATC3), transcript variant 1, mRNA.	1034					inflammatory response|transcription from RNA polymerase II promoter	nucleolus|plasma membrane	DNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		ATCACTTTAGATGATGGTAAG	0.418000														154			15		0	0	1	0	0
NFS1	9054	broad.mit.edu	37	20	34263069	34263069	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:34263069C>A	uc002xdw.2	-	7	923	c.846G>T	c.(844-846)caG>caT	p.Q282H	CPNE1_uc002xdn.1_5'Flank|CPNE1_uc002xdo.1_5'Flank|CPNE1_uc002xdp.1_5'Flank|NFS1_uc002xdt.2_Missense_Mutation_p.Q222H|NFS1_uc010zvl.2_Missense_Mutation_p.Q231H|NFS1_uc010zvk.2_Missense_Mutation_p.Q80H	NM_021100	NP_066923	Q9Y697	NFS1_HUMAN	Homo sapiens NFS1 nitrogen fixation 1 homolog (S. cerevisiae) (NFS1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	282					Mo-molybdopterin cofactor biosynthetic process|cysteine metabolic process|iron incorporation into metallo-sulfur cluster|protein complex assembly|water-soluble vitamin metabolic process	cytosol|mitochondrial matrix|nucleus	cysteine desulfurase activity|protein homodimerization activity|pyridoxal phosphate binding			central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	18	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.0886)		L-Alanine(DB00160)|L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)	CCCCTCCACTCTGCAGGGCCT	0.592000														14			7		0.00198382	0.00208369	1	1	0
GOLGA8A	23015	broad.mit.edu	37	15	34673637	34673637	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:34673637G>A	uc001zii.3	-	15	1896	c.1787C>T	c.(1786-1788)gCt>gTt	p.A596V	GOLGA8A_uc001zih.3_Missense_Mutation_p.A452V|DQ593032_uc001zil.3_5'Flank	NM_181077	NP_851422	A7E2F4	GOG8A_HUMAN	Homo sapiens golgin A8 family, member A (GOLGA8A), transcript variant 1, mRNA.	624	Golgi-targeting domain (By similarity).			V -> I (in Ref. 1; AAF28463, 2; BAA74878, 4; AAI44610/AAI50330/AAI52411 and 5; CAH18214).		Golgi cisterna membrane							all_lung(180;2.78e-08)		all cancers(64;8.27e-19)|GBM - Glioblastoma multiforme(113;6.98e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0156)		CGGCAGCCAAGCCCAGCAAAA	0.502000														36			11		0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100683263	100683263	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100683263G>T	uc003uxp.1	+	2	8619	c.8566G>T	c.(8566-8568)Ggt>Tgt	p.G2856C	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	2856	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)					AACTGCTGAAGGTATCGTCGT	0.512000														152			217		6.72445e-110	8.98003e-110	1	1	0
ECM2	1842	broad.mit.edu	37	9	95263331	95263331	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:95263331G>A	uc011lty.2	-	8	1796	c.1609C>T	c.(1609-1611)Cta>Tta	p.L537L	CENPP_uc004arz.3_Intron|CENPP_uc010mqx.3_Intron|ECM2_uc004asf.4_Silent_p.L515L|ECM2_uc004asg.3_Silent_p.L515L|ECM2_uc010mqz.2_5'UTR	NM_001393	NP_001384	O94769	ECM2_HUMAN	Homo sapiens extracellular matrix protein 2, female organ and adipocyte specific (ECM2), transcript variant 1, mRNA.	537					cell-matrix adhesion		integrin binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						ATGGATTCTAGATTTCTGCAG	0.448000														30			15		0	0	1	0	0
DIP2C	22982	broad.mit.edu	37	10	373112	373112	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:373112C>T	uc001ifp.3	-	30	3848	c.3758G>A	c.(3757-3759)cGa>cAa	p.R1253Q		NM_014974	NP_055789	Q9Y2E4	DIP2C_HUMAN	Homo sapiens DIP2 disco-interacting protein 2 homolog C (Drosophila) (DIP2C), mRNA.	1253						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		GTCCAGCCCTCGCGCCTGGAG	0.577000														19			10		0	0	1	0	0
AFF4	27125	broad.mit.edu	37	5	132232115	132232115	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:132232115G>A	uc003kyd.3	-	10	2615	c.2207C>T	c.(2206-2208)cCg>cTg	p.P736L	AFF4_uc011cxk.2_Missense_Mutation_p.P414L|AFF4_uc003kye.1_Missense_Mutation_p.P736L	NM_014423	NP_055238	Q9UHB7	AFF4_HUMAN	Homo sapiens AF4/FMR2 family, member 4 (AFF4), mRNA.	736					transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity	p.P736T(1)	SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CCCCTTGGGCGGCTCTGTTTC	0.453000														54			43		0	0	1	0	0
MTCH1	23787	broad.mit.edu	37	6	36949430	36949430	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:36949430G>A	uc003one.4	-	1	340	c.340C>T	c.(340-342)Ccc>Tcc	p.P114S	MTCH1_uc003onc.1_Missense_Mutation_p.P114S|MTCH1_uc010jwo.1_Non-coding_Transcript|MTCH1_uc003ond.1_Missense_Mutation_p.P114S|MTCH1_uc011dtt.2_Intron	NM_014341	NP_055156	Q9NZJ7	MTCH1_HUMAN	Homo sapiens mitochondrial carrier 1 (MTCH1), nuclear gene encoding mitochondrial protein, mRNA.	114					activation of caspase activity|neuronal ion channel clustering|positive regulation of apoptosis|regulation of signal transduction|transport	integral to membrane|mitochondrial inner membrane	protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	6						AGGGTGGGGGGCATCGGCTCA	0.577000														16			8		0	0	1	0	0
PRAM1	84106	broad.mit.edu	37	19	8563370	8563370	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:8563370C>T	uc002mkd.3	-	1	1385	c.1322G>A	c.(1321-1323)cGg>cAg	p.R441Q		NM_032152	NP_115528	Q96QH2	PRAM_HUMAN	Homo sapiens PML-RARA regulated adaptor molecule 1 (PRAM1), mRNA.	489	Pro-rich.						lipid binding|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)	19						CAGAGGCCTCCGCCGGGGTGG	0.711000														5			9		0	0	1	0	0
COL2A1	1280	broad.mit.edu	37	12	48374399	48374399	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:48374399C>T	uc001rqu.3	-	38	2744	c.2563G>A	c.(2563-2565)Ggc>Agc	p.G855S	COL2A1_uc009zkw.3_Non-coding_Transcript|COL2A1_uc001rqv.3_Missense_Mutation_p.G786S	NM_001844	NP_001835	P02458	CO2A1_HUMAN	Homo sapiens collagen, type II, alpha 1 (COL2A1), transcript variant 1, mRNA.	855	Triple-helical region.		G -> S (in SEDC).		axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	CCTTTCTGGCCGGCCTCTCCT	0.617000														6			5		0	0	1	0	0
NRD1	4898	broad.mit.edu	37	1	52343976	52343976	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:52343976G>A	uc001ctc.4	-	0	634	c.312C>T	c.(310-312)gtC>gtT	p.V104V	NRD1_uc001cte.3_5'Flank|NRD1_uc001ctd.4_Silent_p.V104V|NRD1_uc001ctf.2_Silent_p.V104V|NRD1_uc010ong.1_Intron|NRD1_uc009vzc.1_5'Flank	NM_002525	NP_001229290	O43847	NRDC_HUMAN	Homo sapiens nardilysin (N-arginine dibasic convertase) (NRD1), transcript variant 1, mRNA.	104					cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						TGGGAGACTTGACGATCTCAG	0.612000														30			11		0	0	1	0	0
RAB11FIP3	9727	broad.mit.edu	37	16	560783	560783	+	Silent	SNP	C	T	T	rs143343068		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:560783C>T	uc002chf.3	+	8	1962	c.1623C>T	c.(1621-1623)atC>atT	p.I541I	RAB11FIP3_uc010uuf.2_Silent_p.I245I|RAB11FIP3_uc010uug.2_Silent_p.I276I	NM_014700	NP_055515	O75154	RFIP3_HUMAN	Homo sapiens RAB11 family interacting protein 3 (class II) (RAB11FIP3), transcript variant 1, mRNA.	541	ARF-binding domain (ABD).				cell cycle|cytokinesis|endocytic recycling|protein transport	centrosome|cleavage furrow|midbody|recycling endosome membrane	ADP-ribosylation factor binding|Rab GTPase binding|calcium ion binding|protein homodimerization activity			breast(1)|endometrium(2)|kidney(3)|lung(5)|upper_aerodigestive_tract(1)	12		Hepatocellular(16;0.0218)				GCATTGAGATCGAGAACCTGC	0.612000														12			9		0	0	1	0	0
CREB3	10488	broad.mit.edu	37	9	35736702	35736702	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:35736702G>A	uc003zxv.3	+	8	1548	c.1095G>A	c.(1093-1095)ttG>ttA	p.L365L	CREB3_uc010mla.3_Silent_p.L284L	NM_006368	NP_006359	O43889	CREB3_HUMAN	Homo sapiens cAMP responsive element binding protein 3 (CREB3), mRNA.	389	Pro-rich.				chemotaxis|induction of positive chemotaxis|interspecies interaction between organisms|negative regulation of cell cycle|positive regulation of calcium ion transport|positive regulation of cell migration|positive regulation of transcription, DNA-dependent|reactivation of latent virus|regulation of cell proliferation	Golgi apparatus|cytosol|endoplasmic reticulum|endoplasmic reticulum membrane|integral to membrane|nucleus	CCR1 chemokine receptor binding|DNA binding|cAMP response element binding protein binding|protein dimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|urinary_tract(1)	9	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)	GBM - Glioblastoma multiforme(74;0.0285)		CTGTCATTTTGCAGGACAGAT	0.562000											OREG0019176	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		149			21		0	0	1	0	0
FMNL1	752	broad.mit.edu	37	17	43322423	43322423	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:43322423G>A	uc002iin.3	+	20	2876	c.2676G>A	c.(2674-2676)ccG>ccA	p.P892P	FMNL1_uc002iiq.3_Silent_p.P470P|FMNL1_uc010dag.3_Non-coding_Transcript|FMNL1_uc021tyj.1_Silent_p.P219P|LOC100133991_uc010dah.3_5'Flank	NM_005892	NP_005883	O95466	FMNL_HUMAN	Homo sapiens formin-like 1 (FMNL1), mRNA.	892	FH2.				actin cytoskeleton organization		Rho GTPase binding|actin binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						AGAAGTACCCGCAACTCACAG	0.587000														24			25		0	0	1	0	0
ZNF157	7712	broad.mit.edu	37	X	47272259	47272259	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:47272259A>C	uc004dhr.1	+	3	856	c.787A>C	c.(787-789)Att>Ctt	p.I263L		NM_003446	NP_003437	P51786	ZN157_HUMAN	Homo sapiens zinc finger protein 157 (ZNF157), mRNA.	263					negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						AACCCTCACGATTCATCAGAG	0.433000														41			6		0	0	1	0	0
USH1G	124590	broad.mit.edu	37	17	72915984	72915984	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:72915984A>G	uc002jme.1	-	1	1130	c.947T>C	c.(946-948)gTg>gCg	p.V316A	USH1G_uc010wro.1_Missense_Mutation_p.V213A	NM_173477	NP_775748	Q495M9	USH1G_HUMAN	Homo sapiens Usher syndrome 1G (autosomal recessive) (USH1G), mRNA.	316					equilibrioception|photoreceptor cell maintenance|sensory perception of sound	actin cytoskeleton			HN1/USH1G(2)	endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3)	14	all_lung(278;0.172)|Lung NSC(278;0.207)					TCTGCGGAACACCATGGTGCC	0.697000														64			30		0	0	1	0	0
GGT5	2687	broad.mit.edu	37	22	24616068	24616068	+	Missense_Mutation	SNP	A	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:24616068A>T	uc002zzp.4	-	11	2051	c.1634T>A	c.(1633-1635)cTc>cAc	p.L545H	GGT5_uc002zzo.4_Missense_Mutation_p.L544H|GGT5_uc002zzr.4_Missense_Mutation_p.L512H|GGT5_uc002zzq.4_3'UTR|GGT5_uc011ajm.2_Missense_Mutation_p.L468H	NM_001099781	NP_001093251	P36269	GGT5_HUMAN	Homo sapiens gamma-glutamyltransferase 5 (GGT5), transcript variant 1, mRNA.	544					glutathione biosynthetic process|hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	integral to membrane|plasma membrane	acyltransferase activity|gamma-glutamyltransferase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3)	28						ACGGTCTTGGAGTCCCCTCTG	0.617000														23			11		0	0	1	0	0
BTAF1	9044	broad.mit.edu	37	10	93786957	93786957	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:93786957A>G	uc001khr.3	+	36	5404	c.5306A>G	c.(5305-5307)aAa>aGa	p.K1769R		NM_003972	NP_003963	O14981	BTAF1_HUMAN	Homo sapiens BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa (Mot1 homolog, S. cerevisiae) (BTAF1), mRNA.	1769	Helicase C-terminal.				negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				GGGTTGCAGAAATTCAAGATG	0.378000														96			18		0	0	1	0	0
CR1	1378	broad.mit.edu	37	1	207753903	207753903	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:207753903C>T	uc001hfy.3	+	22	3951	c.3811C>T	c.(3811-3813)Cta>Tta	p.L1271L	CR1_uc009xcl.1_Silent_p.L821L|CR1_uc001hfx.3_Silent_p.L1721L|CR1_uc021pij.1_Silent_p.L1271L	NM_000573	NP_000564	P17927	CR1_HUMAN	Homo sapiens complement component (3b/4b) receptor 1 (Knops blood group) (CR1), transcript variant F, mRNA.	1271	Sushi 20.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						TGGCCGTGTGCTATTTCCACT	0.438000														189			90		0	0	1	0	0
DHCR7	1717	broad.mit.edu	37	11	71152283	71152283	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:71152283C>T	uc001oqk.3	-	5	866	c.616G>A	c.(616-618)Gcc>Acc	p.A206T	DHCR7_uc001oql.3_Missense_Mutation_p.A206T	NM_001163817	NP_001351	Q9UBM7	DHCR7_HUMAN	Homo sapiens 7-dehydrocholesterol reductase (DHCR7), transcript variant 2, mRNA.	206					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane	7-dehydrocholesterol reductase activity|protein binding	p.A206T(3)		endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1)	19					NADH(DB00157)	CAGTCTCTGGCGCTGGTGGGG	0.562000									Smith-Lemli-Opitz syndrome					32			16		0	0	1	0	0
SLC18A2	6571	broad.mit.edu	37	10	119036673	119036673	+	Splice_Site	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:119036673G>A	uc001ldd.2	+	16	1604	c.1441_splice	c.e16-1	p.A481_splice	SLC18A2_uc009xyy.2_Splice_Site_p.A278_splice	NM_003054	NP_003045	Q05940	VMAT2_HUMAN	Homo sapiens solute carrier family 18 (vesicular monoamine), member 2 (SLC18A2), mRNA.	481					neurotransmitter secretion	clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction	monoamine transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29		Colorectal(252;0.19)		all cancers(201;0.029)	Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844)	TCTCTTTTAGGCTATTCTCAT	0.313000														28			13		0	0	1	0	0
MLL3	58508	broad.mit.edu	37	7	151873923	151873923	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:151873923G>T	uc003wla.3	-	37	8834	c.8615C>A	c.(8614-8616)cCt>cAt	p.P2872H	MLL3_uc003wkz.3_Missense_Mutation_p.P1933H|MLL3_uc003wky.3_Missense_Mutation_p.P381H	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	2872					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		TGGATCACAAGGATGCAAAGA	0.413000			N		medulloblastoma									95			21		4.96729e-08	5.78267e-08	1	1	0
TBC1D4	9882	broad.mit.edu	37	13	75887029	75887029	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:75887029C>T	uc001vjl.1	-	12	2575	c.2228G>A	c.(2227-2229)gGa>gAa	p.G743E	TBC1D4_uc010tht.1_5'UTR|TBC1D4_uc010thu.1_5'UTR|TBC1D4_uc010aer.2_Missense_Mutation_p.G735E|TBC1D4_uc010aes.2_Missense_Mutation_p.G680E	NM_014832	NP_055647	O60343	TBCD4_HUMAN	Homo sapiens TBC1 domain family, member 4 (TBC1D4), mRNA.	743	Ser-rich.					cytoplasm	Rab GTPase activator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		TCTCCCTTCTCCATCACTGTT	0.488000														23			7		0	0	1	0	0
CCDC73	493860	broad.mit.edu	37	11	32637485	32637485	+	Splice_Site	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:32637485C>A	uc001mtv.3	-	15	1419	c.1375_splice	c.e15+1	p.D459_splice	CCDC73_uc001mtw.1_Missense_Mutation_p.G449V	NM_001008391	NP_001008392	Q6ZRK6	CCD73_HUMAN	Homo sapiens coiled-coil domain containing 73 (CCDC73), mRNA.	459										NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					TTTAAGGTTACCATCTATAAT	0.264000														11			4		0.00909568	0.00940365	1	1	0
GLMN	11146	broad.mit.edu	37	1	92754541	92754541	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:92754541C>T	uc001dor.3	-	5	677	c.562G>A	c.(562-564)Gtg>Atg	p.V188M	GLMN_uc009wdg.3_Non-coding_Transcript|GLMN_uc001dos.3_Missense_Mutation_p.V188M	NM_053274	NP_444504	Q92990	GLMN_HUMAN	Homo sapiens glomulin, FKBP associated protein (GLMN), mRNA.	188					muscle cell differentiation|negative regulation of T cell proliferation|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of phosphorylation|regulation of gene expression, epigenetic|vasculogenesis	intracellular	hepatocyte growth factor receptor binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	17		all_lung(203;0.00827)|Lung NSC(277;0.0295)		all cancers(265;0.00702)|GBM - Glioblastoma multiforme(16;0.0381)|Epithelial(280;0.0989)		ACTTCTTCCACAAAAGGCTTA	0.333000									Multiple Glomus Tumors (of the Skin), Familial					97			32		0	0	1	0	0
NADSYN1	55191	broad.mit.edu	37	11	71169509	71169509	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:71169509A>G	uc001oqn.3	+	2	308	c.182A>G	c.(181-183)gAc>gGc	p.D61G	NADSYN1_uc001oqm.3_Non-coding_Transcript|NADSYN1_uc001oqo.3_5'UTR	NM_018161	NP_060631	Q6IA69	NADE_HUMAN	Homo sapiens NAD synthetase 1 (NADSYN1), mRNA.	61	CN hydrolase.				NAD biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|NAD+ synthase (glutamine-hydrolyzing) activity|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	TACGAGTCGGACACCCTCTTG	0.572000														92			7		0	0	1	0	0
TBC1D26	353149	broad.mit.edu	37	17	15641317	15641317	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:15641317C>T	uc010cov.3	+	5	455	c.205C>T	c.(205-207)Cgc>Tgc	p.R69C	TBC1D26_uc010cou.1_Missense_Mutation_p.R69C|TBC1D26_uc002gpb.4_Non-coding_Transcript	NM_178571	NP_848666	Q86UD7	TBC26_HUMAN	Homo sapiens TBC1 domain family, member 26 (TBC1D26), mRNA.	69						intracellular	Rab GTPase activator activity			endometrium(1)|large_intestine(1)|lung(4)|skin(1)	7				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.078)		ACAGCAAAGACGCAAGGAAAG	0.547000														40			26		0	0	1	0	0
ZNF671	79891	broad.mit.edu	37	19	58232809	58232809	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58232809A>G	uc002qpz.4	-	3	744	c.645T>C	c.(643-645)aaT>aaC	p.N215N	ZNF551_uc002qpx.3_Intron|ZNF671_uc010eug.3_Silent_p.N138N|ZNF671_uc010yhf.2_Silent_p.N117N	NM_024833	NP_079109	Q8TAW3	ZN671_HUMAN	Homo sapiens zinc finger protein 671 (ZNF671), mRNA.	215					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		GTTTCCCTCCATTGGGCTGGT	0.517000														59			30		0	0	1	0	0
HTT	3064	broad.mit.edu	37	4	3237092	3237092	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:3237092C>T	uc021xkv.1	+	61	8683	c.8538C>T	c.(8536-8538)gaC>gaT	p.D2846D		NM_002111	NP_002102	P42858	HD_HUMAN	Homo sapiens huntingtin (HTT), mRNA.	2846					Golgi organization|establishment of mitotic spindle orientation|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	Golgi apparatus|autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		ATCCTCTGGACGTAGGGCCGG	0.532000														34			24		0	0	1	0	0
SMC2	10592	broad.mit.edu	37	9	106887381	106887381	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:106887381C>T	uc004bbv.3	+	17	2734	c.2446C>T	c.(2446-2448)Caa>Taa	p.Q816*	SMC2_uc004bbw.3_Nonsense_Mutation_p.Q816*|SMC2_uc011lvl.2_Nonsense_Mutation_p.Q816*|SMC2_uc004bbx.3_Nonsense_Mutation_p.Q816*|SMC2_uc004bby.3_5'Flank	NM_001042551	NP_006435	O95347	SMC2_HUMAN	Homo sapiens structural maintenance of chromosomes 2 (SMC2), transcript variant 2, mRNA.	816					cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity	p.K815N(1)		breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						GAAAGAAAAACAACAGGTAAT	0.373000														68			38		0	0	1	0	0
CELA3B	23436	broad.mit.edu	37	1	22333432	22333432	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:22333432G>A	uc001bfl.3	+	4	443	c.424G>A	c.(424-426)Gcc>Acc	p.A142T		NM_005747	NP_005738	P08861	CEL3B_HUMAN	Homo sapiens chymotrypsin-like elastase family, member 3A (CELA3A), mRNA.	142	Peptidase S1.				cholesterol metabolic process|proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8						CGTCCAGCTCGCCTCACTCCC	0.622000														8			37		0	0	1	0	0
RIOK3	8780	broad.mit.edu	37	18	21044578	21044578	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:21044578G>A	uc002kui.4	+	4	1146	c.529G>A	c.(529-531)Gca>Aca	p.A177T	RIOK3_uc010dls.3_Missense_Mutation_p.A177T|RIOK3_uc010xas.2_Missense_Mutation_p.A161T|RIOK3_uc010xat.2_5'Flank	NM_003831	NP_003822	O14730	RIOK3_HUMAN	Homo sapiens RIO kinase 3 (yeast) (RIOK3), mRNA.	177					chromosome segregation		ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(2)	10	all_cancers(21;0.000106)|all_epithelial(16;6.74e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0202)|Ovarian(20;0.127)					AAAGAACACAGCAAGAATGGA	0.333000														30			6		0	0	1	0	0
ANKRD42	338699	broad.mit.edu	37	11	82936072	82936072	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:82936072A>C	uc010rsv.1	+	5	1184	c.762A>C	c.(760-762)gaA>gaC	p.E254D	ANKRD42_uc001ozz.1_Missense_Mutation_p.E226D|ANKRD42_uc001paa.3_Missense_Mutation_p.E254D|ANKRD42_uc001pab.1_Missense_Mutation_p.E253D			Q8N9B4	ANR42_HUMAN	Homo sapiens ankyrin repeat domain 42 (ANKRD42), mRNA.	226										central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						CTGAGTATGAAGGAAAAGACC	0.333000														44			14		0	0	1	0	0
MID1	4281	broad.mit.edu	37	X	10535405	10535405	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:10535405A>G	uc004cte.4	-	1	373	c.183T>C	c.(181-183)caT>caC	p.H61H	MID1_uc004ctd.4_5'Flank|MID1_uc004ctg.4_Silent_p.H61H|MID1_uc004cth.4_Silent_p.H61H|MID1_uc004ctk.4_Silent_p.H61H|MID1_uc004ctj.4_Silent_p.H61H|MID1_uc004cti.4_Silent_p.H61H|MID1_uc011mie.1_Non-coding_Transcript|MID1_uc004ctm.2_Silent_p.H61H|MID1_uc004ctn.2_Silent_p.H61H|MID1_uc004cto.2_Silent_p.H61H|MID1_uc010ndw.1_5'Flank|MID1_uc004cts.1_5'Flank|MID1_uc004ctt.3_Silent_p.H61H|MID1_uc004ctu.3_Silent_p.H61H|MID1_uc004ctv.3_Silent_p.H61H|MID1_uc004ctw.3_Silent_p.H61H|MID1_uc010ndy.2_Silent_p.H61H|MID1_uc010ndz.1_5'Flank|MID1_uc004cty.3_Silent_p.H61H|MID1_uc004ctz.1_5'Flank|MID1_uc004cua.1_Non-coding_Transcript|MID1_uc004cub.1_Silent_p.H61H|MID1_uc004cuc.1_Silent_p.H61H|MID1_uc004cud.1_Silent_p.H61H|MID1_uc004cue.1_Silent_p.H61H|MID1_uc004cuf.1_Silent_p.H61H|MID1_uc004cug.1_Silent_p.H61H	NM_001193277	NP_150632	O15344	TRI18_HUMAN	Homo sapiens midline 1 (Opitz/BBB syndrome) (MID1), transcript variant 2, mRNA.	61					microtubule cytoskeleton organization|pattern specification process|positive regulation of stress-activated MAPK cascade	cytoplasm|microtubule|microtubule associated complex|spindle	ligase activity|ubiquitin protein ligase binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	26						GGGTGATGACATGCCGGCAGG	0.597000														90			7		0	0	1	0	0
JAK2	3717	broad.mit.edu	37	9	5050723	5050723	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:5050723C>A	uc010mhm.3	+	4	619	c.506C>A	c.(505-507)cCt>cAt	p.P169H	JAK2_uc003ziw.3_Missense_Mutation_p.P169H	NM_004972	NP_004963	O60674	JAK2_HUMAN	Homo sapiens Janus kinase 2 (JAK2), mRNA.	169	FERM.|Interaction with cytokine/interferon/growth hormone receptors (By similarity).				JAK-STAT cascade involved in growth hormone signaling pathway|STAT protein import into nucleus|actin filament polymerization|activation of JAK2 kinase activity|activation of caspase activity by protein phosphorylation|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of DNA binding|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|SH2 domain binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding		BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)		ATAAAAGTACCTGTGACTCAT	0.378000		1	"""T, Mis, O"""	"""ETV6, PCM1, BCR"""	"""ALL, AML, MPD,  CML"""				Polycythemia Vera, Familial					50			6		3.59834e-05	3.95114e-05	1	1	0
DOCK1	1793	broad.mit.edu	37	10	129245737	129245737	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:129245737T>C	uc010qun.2	+	50	5557	c.5493T>C	c.(5491-5493)gaT>gaC	p.D1831D	DOCK1_uc001ljt.3_Silent_p.D1810D|DOCK1_uc009yaq.3_Silent_p.L810L|DOCK1_uc001ljw.1_5'Flank	NM_001380	NP_001371	Q14185	DOCK1_HUMAN	Homo sapiens dedicator of cytokinesis 1 (DOCK1), mRNA.	1810	Interaction with NCK2 third SH3 domain (major).				apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		GCGTGGCAGATTACGGGAATT	0.582000														13			7		0	0	1	0	0
MAPK13	5603	broad.mit.edu	37	6	36107125	36107125	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:36107125G>A	uc003ols.3	+	11	1171	c.1073G>A	c.(1072-1074)cGg>cAg	p.R358Q	MAPK13_uc003olt.3_Non-coding_Transcript	NM_002754	NP_002745	O15264	MK13_HUMAN	Homo sapiens mitogen-activated protein kinase 13 (MAPK13), mRNA.	358					Ras protein signal transduction|cell cycle|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|positive regulation of interleukin-6 production|response to stress		ATP binding|MAP kinase activity|protein binding			breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|prostate(2)|skin(1)	12						AAGGACTCACGGCGCCGGAGT	0.552000														24			28		0	0	1	0	0
HIRA	7290	broad.mit.edu	37	22	19319035	19319035	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:19319035G>A	uc002zpf.1	-	24	3202	c.2982C>T	c.(2980-2982)atC>atT	p.I994I	HIRA_uc011agx.1_Missense_Mutation_p.R831W|HIRA_uc010grn.1_Silent_p.I787I|HIRA_uc010gro.2_Silent_p.I950I	NM_003325	NP_003316	P54198	HIRA_HUMAN	Homo sapiens HIR histone cell cycle regulation defective homolog A (S. cerevisiae) (HIRA), mRNA.	994	Interaction with histone H4.				chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					GGTTCTGCCCGATGACTGGTA	0.587000														31			18		0	0	1	0	0
RB1	5925	broad.mit.edu	37	13	49039423	49039423	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:49039423A>G	uc001vcb.3	+	22	2574	c.2408A>G	c.(2407-2409)aAc>aGc	p.N803S		NM_000321	NP_000312	P06400	RB_HUMAN	Homo sapiens retinoblastoma 1 (RB1), mRNA.	803	Domain C; mediates interaction with E4F1.|Interaction with LIMD1.		N -> K (in RB).		G1 phase of mitotic cell cycle|Ras protein signal transduction|S phase of mitotic cell cycle|androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|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|sister chromatid biorientation	PML body|Rb-E2F complex|SWI/SNF complex|chromatin	DNA binding|androgen receptor 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.?(11)		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)	CCTGGAGGGAACATCTATATT	0.423000		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)				96			10		0	0	1	0	0
COPS2	9318	broad.mit.edu	37	15	49426260	49426260	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:49426260G>A	uc001zxh.3	-	7	861	c.782C>T	c.(781-783)gCa>gTa	p.A261V	COPS2_uc001zxf.3_Missense_Mutation_p.A254V|COPS2_uc010ufa.2_Missense_Mutation_p.A190V	NM_001143887	NP_001137359	P61201	CSN2_HUMAN	Homo sapiens COP9 constitutive photomorphogenic homolog subunit 2 (Arabidopsis) (COPS2), transcript variant 2, mRNA.	254	PCI.				cullin deneddylation|transcription from RNA polymerase II promoter	cytoplasm|signalosome	protein binding|signal transducer activity			cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(2)	18		all_lung(180;0.0428)		all cancers(107;1.34e-07)|GBM - Glioblastoma multiforme(94;3.02e-05)		ATCAGTGTGTGCCTTTTCAAA	0.343000														44			26		0	0	1	0	0
TRPC5	7224	broad.mit.edu	37	X	111090401	111090401	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:111090401G>A	uc004epl.1	-	5	2560	c.1641C>T	c.(1639-1641)atC>atT	p.I547I	TRPC5_uc004epm.1_Silent_p.I547I	NM_012471	NP_036603	Q9UL62	TRPC5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 5 (TRPC5), mRNA.	547					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TAGGCTCATCGATAGCTCTGG	0.393000														168			13		0	0	1	0	0
C1orf127	148345	broad.mit.edu	37	1	11018798	11018798	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:11018798G>T	uc010oao.2	-	5	528	c.528C>A	c.(526-528)ccC>ccA	p.P176P	C1orf127_uc001ars.2_Silent_p.P37P|C1orf127_uc001arr.2_Silent_p.P37P	NM_001170754	NP_001164225	B7ZLG7	B7ZLG7_HUMAN	Homo sapiens chromosome 1 open reading frame 127 (C1orf127), mRNA.	27										NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5)	32	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		ACAGGGGCAGGGGCCGGGAGA	0.572000														32			12		9.05144e-12	1.10939e-11	1	1	0
KIAA1429	25962	broad.mit.edu	37	8	95522041	95522041	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:95522041C>A	uc003ygo.2	-	14	3825	c.3754G>T	c.(3754-3756)Ggt>Tgt	p.G1252C	KIAA1429_uc010maz.2_Non-coding_Transcript	NM_015496	NP_056311	Q69YN4	VIR_HUMAN	Homo sapiens KIAA1429 (KIAA1429), transcript variant 1, mRNA.	1252					RNA splicing|mRNA processing	nucleus				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			CTTTCATCACCTTTAATAGTT	0.403000														44			4		0.00909568	0.00940365	1	1	0
UBR4	23352	broad.mit.edu	37	1	19443764	19443764	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:19443764G>T	uc001bbi.3	-	72	10778	c.10774C>A	c.(10774-10776)Ctg>Atg	p.L3592M	UBR4_uc001bbj.1_Missense_Mutation_p.L7M	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 4 (UBR4), mRNA.	3592					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TTATAATACAGGTTGATGGTC	0.517000														84			38		3.38236e-24	4.41471e-24	1	1	0
BAIAP3	8938	broad.mit.edu	37	16	1397954	1397954	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:1397954C>T	uc002clk.2	+	31	3348	c.3190C>T	c.(3190-3192)Cgc>Tgc	p.R1064C	BAIAP3_uc010uuz.2_Missense_Mutation_p.R1029C|BAIAP3_uc010uva.2_Missense_Mutation_p.R1001C|BAIAP3_uc021tag.1_Missense_Mutation_p.R1006C|BAIAP3_uc002clj.3_Missense_Mutation_p.R1046C|BAIAP3_uc010uvc.1_Missense_Mutation_p.R993C	NM_003933	NP_001186026	O94812	BAIP3_HUMAN	Homo sapiens BAI1-associated protein 3 (BAIAP3), transcript variant 1, mRNA.	1064	C2 2.				G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				TCCACTGGTCCGCAGCCAGAG	0.627000														117			9		0	0	1	0	0
DOM3Z	1797	broad.mit.edu	37	6	31938848	31938848	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31938848G>A	uc003nyp.1	-	2	766	c.433C>T	c.(433-435)Cgg>Tgg	p.R145W	DOM3Z_uc003nyq.1_5'UTR|DOM3Z_uc010jtl.1_3'UTR|STK19_uc003nyt.3_5'Flank|STK19_uc011dow.2_5'Flank|STK19_uc011dox.1_5'Flank|STK19_uc003nyv.3_5'Flank|STK19_uc003nyw.3_5'Flank|STK19_uc010jtn.1_5'Flank	NM_005510	NP_005501	O77932	DOM3Z_HUMAN	Homo sapiens dom-3 homolog Z (C. elegans) (DOM3Z), mRNA.	145							identical protein binding|metal ion binding|nucleotide binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	7						CCCTCCTGCCGCTCATACGGT	0.642000														49			22		0	0	1	0	0
BCOR	54880	broad.mit.edu	37	X	39922014	39922014	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:39922014C>A	uc004den.4	-	8	4450	c.4158G>T	c.(4156-4158)gaG>gaT	p.E1386D	BCOR_uc004dep.4_Missense_Mutation_p.E1352D|BCOR_uc004deo.4_Missense_Mutation_p.E1334D|BCOR_uc010nhb.3_Missense_Mutation_p.E94D|BCOR_uc004dem.4_Missense_Mutation_p.E1352D	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN	Homo sapiens BCL6 corepressor (BCOR), transcript variant 5, mRNA.	1386					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						CATCGGCATTCTCCACGTAGT	0.582000			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic							21			5		5.9392e-07	6.7814e-07	1	1	0
ATP6AP1	537	broad.mit.edu	37	X	153660611	153660611	+	Splice_Site	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153660611G>T	uc004flf.1	+	4	425	c.364_splice	c.e4-1	p.N122_splice	ATP6AP1_uc004flg.1_Splice_Site|ATP6AP1_uc004flh.1_Splice_Site_p.N82_splice	NM_001183	NP_001174	Q15904	VAS1_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal accessory protein 1 (ATP6AP1), mRNA.	122					ATP hydrolysis coupled proton transport	integral to membrane|proton-transporting V-type ATPase, V1 domain|vacuolar membrane	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(5)	14	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCTGTCCCCAGAATGCCCTGG	0.642000											OREG0003605	type=REGULATORY REGION|Gene=ATP6AP1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		16			7		1.26484e-09	1.50989e-09	1	1	0
SCARB2	950	broad.mit.edu	37	4	77091087	77091087	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:77091087A>C	uc003hju.2	-	7	1402	c.1046T>G	c.(1045-1047)tTt>tGt	p.F349C	SCARB2_uc011cbu.2_Missense_Mutation_p.F206C	NM_005506	NP_005497	Q14108	SCRB2_HUMAN	Homo sapiens scavenger receptor class B, member 2 (SCARB2), transcript variant 1, mRNA.	349					cell adhesion|protein targeting to lysosome	integral to plasma membrane|lysosomal lumen|lysosomal membrane|membrane fraction	enzyme binding|receptor activity			breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(3)|prostate(2)|skin(1)	22			Lung(101;0.196)			GGCAGAAACAAACCTCTCATC	0.398000														71			37		0	0	1	0	0
C12orf51	283450	broad.mit.edu	37	12	112685974	112685974	+	Splice_Site	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:112685974C>A	uc021reb.1	-	27	4138	c.3742_splice	c.e27-1	p.S1248_splice		NM_001109662	NP_001103132			Homo sapiens chromosome 12 open reading frame 51 (C12orf51), mRNA.											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(6)|large_intestine(16)|lung(49)|ovary(4)|prostate(1)|urinary_tract(6)	100						TTCTGCAACACTCTAATAAAT	0.284000														7			8		1.12685e-05	1.25391e-05	1	1	0
ZNF445	353274	broad.mit.edu	37	3	44496714	44496714	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:44496714C>T	uc003cnf.2	-	2	676	c.328G>A	c.(328-330)Gag>Aag	p.E110K	ZNF445_uc011azv.1_Missense_Mutation_p.E110K|ZNF445_uc011azw.1_Missense_Mutation_p.E110K|ZNF445_uc021wwo.1_Missense_Mutation_p.E110K	NM_181489	NP_852466	P59923	ZN445_HUMAN	Homo sapiens zinc finger protein 445 (ZNF445), mRNA.	110	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G109A(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		ACCCGGAGCTCCCCAGGCAGG	0.612000														34			14		0	0	1	0	0
SPC25	57405	broad.mit.edu	37	2	169745979	169745979	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:169745979C>T	uc002uel.3	-	1	182	c.51G>A	c.(49-51)tgG>tgA	p.W17*		NM_020675	NP_065726	Q9HBM1	SPC25_HUMAN	Homo sapiens SPC25, NDC80 kinetochore complex component, homolog (S. cerevisiae) (SPC25), mRNA.	17	Interaction with the N-terminus of SPBC24.|Interaction with the NDC80-NUF2 subcomplex.				cell division|chromosome segregation|mitotic prometaphase|mitotic spindle organization	Ndc80 complex|condensed chromosome kinetochore|cytosol|nucleus	protein binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	9						TGAATTTATTCCAAAATTCAT	0.368000														19			13		0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126337709	126337709	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:126337709G>A	uc003ifj.4	+	5	6950	c.6950G>A	c.(6949-6951)gGa>gAa	p.G2317E	FAT4_uc011cgp.2_Missense_Mutation_p.G615E	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	2317	Cadherin 22.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GGAGAACTTGGAGTAACACAG	0.413000														123			73		0	0	1	0	0
IQGAP2	10788	broad.mit.edu	37	5	75927843	75927843	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:75927843C>T	uc003kek.3	+	14	1994	c.1772C>T	c.(1771-1773)tCt>tTt	p.S591F	IQGAP2_uc010izv.2_Missense_Mutation_p.S144F|IQGAP2_uc011csv.2_Missense_Mutation_p.S144F|IQGAP2_uc003kel.3_Missense_Mutation_p.S144F	NM_006633	NP_006624	Q13576	IQGA2_HUMAN	Homo sapiens IQ motif containing GTPase activating protein 2 (IQGAP2), mRNA.	591					small GTPase mediated signal transduction	actin cytoskeleton	GTPase inhibitor activity|Ras GTPase activator activity|actin binding|calmodulin binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		GAGCTCAAATCTGAAAGAGGT	0.328000														44			37		0	0	1	0	0
LHX8	431707	broad.mit.edu	37	1	75622580	75622580	+	Silent	SNP	G	A	A	rs79714503	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:75622580G>A	uc001dgo.3	+	8	1477	c.813G>A	c.(811-813)gtG>gtA	p.V271V	LHX8_uc001dgq.3_Silent_p.V210V	NM_001001933	NP_001001933	Q68G74	LHX8_HUMAN	Homo sapiens LIM homeobox 8 (LHX8), transcript variant 1, mRNA.	271						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1)	30						CTGCTCAGGTGTGGTTTCAGA	0.483000														54			27		0	0	1	0	0
RBM44	375316	broad.mit.edu	37	2	238725905	238725905	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:238725905C>T	uc002vxi.4	+	2	478	c.346C>T	c.(346-348)Cct>Tct	p.P116S		NM_001080504	NP_001073973	Q6ZP01	RBM44_HUMAN	Homo sapiens RNA binding motif protein 44 (RBM44), mRNA.	115							RNA binding|nucleotide 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)		ATATTCTATACCTTATTCAGA	0.323000														22			11		0	0	1	0	0
PRIC285	85441	broad.mit.edu	37	20	62192213	62192213	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:62192213G>T	uc002yfm.2	-	15	8108	c.7216C>A	c.(7216-7218)Ctg>Atg	p.L2406M	PRIC285_uc002yfl.1_Missense_Mutation_p.L1837M	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	Homo sapiens peroxisomal proliferator-activated receptor A interacting complex 285 (PRIC285), transcript variant 1, mRNA.	2406					cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|RNA binding|helicase activity|ribonuclease activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(4)|cervix(3)|endometrium(6)|kidney(3)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(4)|urinary_tract(2)	47	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)			GACCGGTCCAGACCCAGGTTT	0.627000														78			7		2.7689e-08	3.24273e-08	1	1	0
ZNF441	126068	broad.mit.edu	37	19	11892634	11892634	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:11892634C>T	uc010dyj.3	+	3	2189	c.1995C>T	c.(1993-1995)caC>caT	p.H665H	ZNF441_uc002msn.4_Silent_p.H621H	NM_152355	NP_689568	Q8N8Z8	ZN441_HUMAN	Homo sapiens zinc finger protein 441 (ZNF441), mRNA.	665					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AAAGGACCCACAGTATGGAGA	0.393000														27			9		0	0	1	0	0
ZNF136	7695	broad.mit.edu	37	19	12298441	12298441	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:12298441A>G	uc002mti.3	+	3	1395	c.1248A>G	c.(1246-1248)ggA>ggG	p.G416G	ZNF136_uc010xmh.2_Silent_p.G350G	NM_003437	NP_003428	P52737	ZN136_HUMAN	Homo sapiens zinc finger protein 136 (ZNF136), mRNA.	416					negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|transcription corepressor activity|zinc ion binding			NS(1)|biliary_tract(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	18						CTCACACTGGAGAGAAACCTT	0.363000														24			18		0	0	1	0	0
TGFBRAP1	9392	broad.mit.edu	37	2	105896980	105896980	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:105896980G>A	uc002tcq.3	-	5	1406	c.1322C>T	c.(1321-1323)gCa>gTa	p.A441V	TGFBRAP1_uc010fjc.3_Missense_Mutation_p.A211V|TGFBRAP1_uc002tcr.4_Missense_Mutation_p.A441V	NM_004257	NP_004248	Q8WUH2	TGFA1_HUMAN	Homo sapiens transforming growth factor, beta receptor associated protein 1 (TGFBRAP1), transcript variant 1, mRNA.	441					regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding			central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						GTAGCCATTTGCTACCTCTGT	0.562000														34			23		0	0	1	0	0
IL36RN	26525	broad.mit.edu	37	2	113820102	113820102	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:113820102G>T	uc002tis.3	+	4	449	c.316G>T	c.(316-318)Ggg>Tgg	p.G106W	IL36RN_uc002tit.3_Missense_Mutation_p.G106W	NM_173170	NP_775262	Q9UBH0	I36RA_HUMAN	Homo sapiens interleukin 36 receptor antagonist (IL36RN), transcript variant 2, mRNA.	106						extracellular space	cytokine activity|interleukin-1 receptor antagonist activity			large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						GCGGGACATGGGGCTCACCTC	0.612000														36			5		3.59834e-05	3.95114e-05	1	1	0
TLK2	11011	broad.mit.edu	37	17	60678165	60678165	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:60678165C>A	uc010ddp.3	+	18	2038	c.1770C>A	c.(1768-1770)caC>caA	p.H590Q	TLK2_uc002izx.4_Missense_Mutation_p.H416Q|TLK2_uc002izz.4_Missense_Mutation_p.H568Q|TLK2_uc002jaa.4_Missense_Mutation_p.H536Q|TLK2_uc010wpd.2_Missense_Mutation_p.H536Q	NM_006852	NP_006843	Q86UE8	TLK2_HUMAN	Homo sapiens tousled-like kinase 2 (TLK2), transcript variant A, mRNA.	590	Protein kinase.				cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	p.T589T(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						CCATCATACACTATGACCTCA	0.343000														60			6		3.59834e-05	3.95114e-05	1	1	0
SP3	6670	broad.mit.edu	37	2	174777882	174777882	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:174777882G>A	uc002uig.3	-	5	2476	c.1945C>T	c.(1945-1947)Cgc>Tgc	p.R649C	SP3_uc002uie.3_Missense_Mutation_p.R581C|SP3_uc002uif.3_Missense_Mutation_p.R596C|SP3_uc010zel.2_Missense_Mutation_p.R646C	NM_003111	NP_003102	Q02447	SP3_HUMAN	Homo sapiens Sp3 transcription factor (SP3), transcript variant 1, mRNA.	649					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	protein binding|zinc ion binding		EWSR1/SP3(3)	NS(2)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.185)			ACAAAAGGGCGTTCTCCAGAA	0.408000														38			24		0	0	1	0	0
DCAF8L1	139425	broad.mit.edu	37	X	27998291	27998291	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:27998291A>G	uc004dbx.1	-	0	1276	c.1161T>C	c.(1159-1161)tgT>tgC	p.C387C		NM_001017930	NP_001017930	A6NGE4	DC8L1_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 8-like 1 (DCAF8L1), mRNA.	387										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						TTGGGAAATCACAATAAACCA	0.413000														76			8		0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152188485	152188485	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:152188485G>T	uc001ezt.1	-	2	5696	c.5620C>A	c.(5620-5622)Cat>Aat	p.H1874N		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	1874					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTAGACTCATGGTGACCAAAT	0.567000														887			39		1.30998e-17	1.67124e-17	1	1	0
ZNF235	9310	broad.mit.edu	37	19	44793311	44793311	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:44793311C>A	uc002oza.4	-	4	380	c.277G>T	c.(277-279)Gca>Tca	p.A93S	ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.3_Intron|ZNF235_uc002ozb.4_Missense_Mutation_p.A89S	NM_004234	NP_004225	Q14590	ZN235_HUMAN	Homo sapiens zinc finger protein 235 (ZNF235), mRNA.	93					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29		Prostate(69;0.0352)|all_neural(266;0.116)				CTTAATCCTGCTTTGTGAAGA	0.403000														41			35		4.65686e-17	5.91956e-17	1	1	0
ADORA3	140	broad.mit.edu	37	1	112045919	112045919	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:112045919T>G	uc001ebh.4	-	0	825	c.58A>C	c.(58-60)Att>Ctt	p.I20L	ADORA3_uc001ebg.4_Intron|ADORA3_uc001ebf.3_Missense_Mutation_p.I20L	NM_000677	NP_000668	P33765	AA3R_HUMAN	Homo sapiens adenosine A3 receptor (ADORA3), transcript variant 2, mRNA.	20					activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction	integral to plasma membrane	adenosine receptor activity, G-protein coupled			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	Adenosine(DB00640)|Aminophylline(DB01223)	CCAATGAAAATTTCCATGGTG	0.537000														18			5		0	0	1	0	0
HTR7	3363	broad.mit.edu	37	10	92508915	92508915	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:92508915C>T	uc001kha.3	-	1	1219	c.976G>A	c.(976-978)Gcc>Acc	p.A326T	HTR7_uc001kgz.3_Missense_Mutation_p.A326T|HTR7_uc001khb.3_Missense_Mutation_p.A326T	NM_019859	NP_062873	P34969	5HT7R_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 7 (adenylate cyclase-coupled) (HTR7), transcript variant d, mRNA.	326					blood circulation|circadian rhythm	integral to plasma membrane	protein binding|serotonin receptor activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30					Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246)	AGGGTGGTGGCTGCTTTCTGT	0.527000														24			15		0	0	1	0	0
SPDYE7P	441251	broad.mit.edu	37	7	72337100	72337100	+	RNA	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:72337100C>A	uc010lal.1	-	0		c.2556G>T								Homo sapiens speedy homolog E7 (Xenopus laevis), pseudogene (SPDYE7P), non-coding RNA.																		GAATGAGGGTCTGGGGAGGGG	0.527000														22			27		1.12875e-08	1.32934e-08	1	1	0
POLR2B	5431	broad.mit.edu	37	4	57887151	57887151	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:57887151G>A	uc003hcl.1	+	16	2453	c.2410G>A	c.(2410-2412)Ggc>Agc	p.G804S	POLR2B_uc011cae.1_Missense_Mutation_p.G797S|POLR2B_uc011caf.1_Missense_Mutation_p.G729S|POLR2B_uc003hcm.1_Missense_Mutation_p.G297S	NM_000938	NP_000929	P30876	RPB2_HUMAN	Homo sapiens polymerase (RNA) II (DNA directed) polypeptide B, 140kDa (POLR2B), mRNA.	804					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding	p.G804S(2)|p.G804D(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					TGTAGACCGCGGCTTCTTCAG	0.348000														54			26		0	0	1	0	0
CRYGN	155051	broad.mit.edu	37	7	151133382	151133382	+	Silent	SNP	G	A	A	rs113942095	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:151133382G>A	uc003wke.3	-	2	396	c.300C>T	c.(298-300)ttC>ttT	p.F100F	CRYGN_uc003wkf.3_Intron|CRYGN_uc003wkg.3_Non-coding_Transcript|CRYGN_uc010lqd.1_Non-coding_Transcript|MIR3907_uc022aqe.1_5'Flank	NM_144727	NP_653328	Q8WXF5	CRGN_HUMAN	Homo sapiens crystallin, gamma N (CRYGN), mRNA.	100	Beta/gamma crystallin 'Greek key' 3.									central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(1)|lung(4)	8			OV - Ovarian serous cystadenocarcinoma(82;0.00358)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGCAACCCTCGAAGATTTCTA	0.537000														47			19		0	0	1	0	0
PADI1	29943	broad.mit.edu	37	1	17552316	17552316	+	Missense_Mutation	SNP	G	A	A	rs144288276		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:17552316G>A	uc001bah.1	+	4	511	c.419G>A	c.(418-420)cGc>cAc	p.R140H		NM_013358	NP_037490	Q9ULC6	PADI1_HUMAN	Homo sapiens peptidyl arginine deiminase, type I (PADI1), mRNA.	140					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity	p.W139C(1)|p.R140C(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	28		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	L-Citrulline(DB00155)	AAAACCTGGCGCTGGGGCCCT	0.587000														50			43		0	0	1	0	0
KRT8	3856	broad.mit.edu	37	12	53292268	53292268	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:53292268G>A	uc009zmk.1	-	7	1342	c.1322C>T	c.(1321-1323)aCg>aTg	p.T441M	KRT8_uc001sbd.2_Missense_Mutation_p.T413M|KRT8_uc009zml.1_Missense_Mutation_p.T413M|KRT8_uc009zmm.1_Missense_Mutation_p.T413M	NM_002273	NP_002264	P05787	K2C8_HUMAN	Homo sapiens keratin 8 (KRT8), transcript variant 2, mRNA.	413	Tail.				cytoskeleton organization|interspecies interaction between organisms	cytoplasm|keratin filament|nuclear matrix|nucleoplasm	protein binding|structural molecule activity			endometrium(5)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(357;0.108)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGTGGTCTTCGTATGAATACT	0.622000														11			3		0	0	1	0	0
GALNTL1	57452	broad.mit.edu	37	14	69787427	69787427	+	Splice_Site	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:69787427G>T	uc001xlb.2	+	2	505	c.178_splice	c.e2-1	p.V60_splice	GALNTL1_uc001xla.2_Splice_Site_p.V60_splice|GALNTL1_uc010aqu.2_Splice_Site_p.V60_splice	NM_020692	NP_065743	Q8N428	GLTL1_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 1 (GALNTL1), transcript variant 2, mRNA.	60						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|ovary(1)|stomach(2)	24				all cancers(60;0.00793)|BRCA - Breast invasive adenocarcinoma(234;0.0174)|OV - Ovarian serous cystadenocarcinoma(108;0.0656)		CTTCATCTCAGGTGACAGGAA	0.607000														57			24		1.10923e-09	1.32579e-09	1	1	0
ENTPD1	953	broad.mit.edu	37	10	97602166	97602166	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:97602166G>A	uc010qoj.2	+	3	427	c.364G>A	c.(364-366)Gaa>Aaa	p.E122K	ENTPD1_uc001kle.1_Missense_Mutation_p.E117K|ENTPD1_uc001kli.4_Missense_Mutation_p.E117K|LOC728558_uc001klg.2_Intron|ENTPD1_uc010qok.2_Missense_Mutation_p.E2K|ENTPD1_uc010qol.2_Missense_Mutation_p.E2K|ENTPD1_uc001klh.4_Missense_Mutation_p.E110K|ENTPD1_uc010qom.2_Missense_Mutation_p.E110K|ENTPD1_uc010qon.2_Intron|ENTPD1_uc009xva.3_Intron	NM_001164178	NP_001157655	P49961	ENTP1_HUMAN	Homo sapiens ectonucleoside triphosphate diphosphohydrolase 1 (ENTPD1), transcript variant 3, mRNA.	110					cell adhesion	integral to plasma membrane	ATP binding			cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|skin(1)	16		Colorectal(252;0.0821)		Epithelial(162;1.31e-07)|all cancers(201;5.33e-06)		TGATTGCATGGAAAGAGCTAG	0.433000														63			38		0	0	1	0	0
STARD8	9754	broad.mit.edu	37	X	67937777	67937777	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:67937777C>T	uc004dxb.3	+	5	1235	c.1021C>T	c.(1021-1023)Cgc>Tgc	p.R341C	STARD8_uc004dxa.3_Missense_Mutation_p.R261C|STARD8_uc004dxc.4_Missense_Mutation_p.R261C	NM_001142503	NP_055540	Q92502	STAR8_HUMAN	Homo sapiens StAR-related lipid transfer (START) domain containing 8 (STARD8), transcript variant 1, mRNA.	261	Poly-Glu.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity			NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						CTGTGAGGGGCGCCGGGGCTC	0.637000														5			7		0	0	1	0	0
ACAD9	28976	broad.mit.edu	37	3	128631414	128631414	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:128631414C>A	uc003ela.4	+	17	2032	c.1830C>A	c.(1828-1830)gcC>gcA	p.A610A	KIAA1257_uc003elg.1_Intron|ACAD9_uc011bks.2_Silent_p.A487A|ACAD9_uc003elb.3_Silent_p.A487A|ACAD9_uc003ele.3_Silent_p.A262A|KIAA1257_uc003elf.1_Intron	NM_014049	NP_054768	Q9H845	ACAD9_HUMAN	Homo sapiens acyl-CoA dehydrogenase family, member 9 (ACAD9), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	610						mitochondrion	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	30						AGAAGCGAGCCTATATCTGTG	0.552000														55			27		1.2476e-16	1.58296e-16	1	1	0
ZNF222	7673	broad.mit.edu	37	19	44531552	44531552	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:44531552C>T	uc002oye.3	+	2	267	c.172C>T	c.(172-174)Cat>Tat	p.H58Y	ZNF284_uc010ejd.2_Non-coding_Transcript|ZNF222_uc002oyc.3_Intron|ZNF222_uc002oyd.3_5'UTR	NM_001129996	NP_001123468	Q9UK12	ZN222_HUMAN	Homo sapiens zinc finger protein 222 (ZNF222), transcript variant 1, mRNA.	48	KRAB.		V -> F (in dbSNP:rs7258517).		regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20		Prostate(69;0.0435)				GTTCACAGGGCATCAACCATT	0.423000														29			17		0	0	1	0	0
KIAA0907	22889	broad.mit.edu	37	1	155899590	155899590	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155899590C>A	uc001fmi.1	-	2	321	c.297G>T	c.(295-297)aaG>aaT	p.K99N	KIAA0907_uc001fmj.1_Missense_Mutation_p.K99N|KIAA0907_uc009wrl.1_Non-coding_Transcript|KIAA0907_uc001fml.1_Missense_Mutation_p.K99N|KIAA0907_uc001fmm.3_Missense_Mutation_p.K99N|KIAA0907_uc001fmo.3_Missense_Mutation_p.K99N	NM_014949	NP_055764	Q7Z7F0	K0907_HUMAN	Homo sapiens KIAA0907 (KIAA0907), mRNA.	99										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			CCAGGTCATCCTTGCTTTTAT	0.393000														57			6		0.0381472	0.0388409	1	1	0
NNT	23530	broad.mit.edu	37	5	43656860	43656860	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:43656860G>T	uc003joe.3	+	15	2654	c.2399G>T	c.(2398-2400)aGc>aTc	p.S800I	NNT_uc003jof.3_Missense_Mutation_p.S800I	NM_012343	NP_892022	Q13423	NNTM_HUMAN	Homo sapiens nicotinamide nucleotide transhydrogenase (NNT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	800					tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)				NADH(DB00157)	GTGGACCCAAGCTTTACTACT	0.493000														41			34		6.05902e-23	7.8814e-23	1	1	0
VPS33A	65082	broad.mit.edu	37	12	122716793	122716793	+	Nonstop_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:122716793C>A	uc001ucd.3	-	12	1904	c.1791G>T	c.(1789-1791)taG>taT	p.*597Y	VPS33A_uc001ucc.3_Intron	NM_022916	NP_075067	Q96AX1	VP33A_HUMAN	Homo sapiens vacuolar protein sorting 33 homolog A (S. cerevisiae) (VPS33A), mRNA.	0					lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis	early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	28	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23)		TCTGAACATCCTAGAAAGGTT	0.398000														119			77		1.42954e-44	1.90211e-44	1	1	0
U2AF1	7307	broad.mit.edu	37	21	44513286	44513286	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:44513286C>T	uc002zdb.1	-	7	733	c.649G>A	c.(649-651)Ggt>Agt	p.G217S	U2AF1_uc002zcy.1_Missense_Mutation_p.G144S|U2AF1_uc002zcz.1_Missense_Mutation_p.G144S|U2AF1_uc002zda.1_Missense_Mutation_p.G217S|U2AF1_uc010gpi.1_3'UTR	NM_006758	NP_001020375	Q01081	U2AF1_HUMAN	Homo sapiens U2 small nuclear RNA auxiliary factor 1 (U2AF1), transcript variant a, mRNA.	217	Arg/Gly/Ser-rich (RS domain).|Poly-Gly.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	Cajal body|catalytic step 2 spliceosome|nuclear speck	RNA binding|nucleotide binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(111)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	126						cctccaccaccgccaccgcca	0.577000			Mis		"""CLL, MDS"""									24			3		0	0	1	0	0
ZCCHC18	644353	broad.mit.edu	37	X	103359493	103359493	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:103359493C>T	uc011msh.2	+	2	2007	c.691C>T	c.(691-693)Cgg>Tgg	p.R231W	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.	231							nucleic acid binding|zinc ion binding										TAAACGGAAGCGGCCGAAAAG	0.493000														13			9		0	0	1	0	0
BRCA2	675	broad.mit.edu	37	13	32906451	32906451	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:32906451G>A	uc001uub.1	+	9	1063	c.836G>A	c.(835-837)tGc>tAc	p.C279Y	BRCA2_uc001uua.1_Missense_Mutation_p.C156Y	NM_000059	NP_000050	P51587	BRCA2_HUMAN	Homo sapiens breast cancer 2, early onset (BRCA2), mRNA.	279					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|gamma-tubulin binding|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		GTAAATAGCTGCAAAGACCAC	0.284000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)				28			20		0	0	1	0	0
KIF13A	63971	broad.mit.edu	37	6	17788044	17788044	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:17788044G>A	uc003ncg.4	-	26	3484	c.3324C>T	c.(3322-3324)taC>taT	p.Y1108Y	KIF13A_uc003ncf.3_Silent_p.Y1095Y|KIF13A_uc003nch.4_Silent_p.Y1108Y|KIF13A_uc003nci.4_Silent_p.Y1095Y	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	Homo sapiens kinesin family member 13A (KIF13A), transcript variant 1, mRNA.	1108					Golgi to plasma membrane protein transport|cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			GTTCATCCAGGTATTCTCGTC	0.398000														66			50		0	0	1	0	0
KCTD14	65987	broad.mit.edu	37	11	77734238	77734238	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:77734238G>A	uc001oyw.4	-	0	83	c.58C>T	c.(58-60)Ctg>Ttg	p.L20L	NDUFC2-KCTD14_uc021qnr.1_Intron|NDUFC2-KCTD14_uc021qns.1_Intron|NDUFC2-KCTD14_uc021qnt.1_Intron	NM_023930	NP_076419	Q9BQ13	KCD14_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 14 (KCTD14), mRNA.	20						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	15	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1e-24)			GACTGGGGCAGAGGGGTCTGG	0.716000														33			5		0	0	1	0	0
PRPF6	24148	broad.mit.edu	37	20	62658381	62658381	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:62658381G>T	uc002yho.3	+	15	2243	c.2075G>T	c.(2074-2076)aGg>aTg	p.R692M	PRPF6_uc002yhp.3_Missense_Mutation_p.R652M	NM_012469	NP_036601	O94906	PRP6_HUMAN	Homo sapiens PRP6 pre-mRNA processing factor 6 homolog (S. cerevisiae) (PRPF6), mRNA.	692					assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly	U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP|catalytic step 2 spliceosome|nucleoplasm	androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09)					GACAACATCAGGGCAGCCCAA	0.572000														37			16		3.52763e-06	3.96648e-06	1	1	0
F5	2153	broad.mit.edu	37	1	169512306	169512306	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:169512306C>A	uc001ggg.1	-	12	2167	c.2022G>T	c.(2020-2022)aaG>aaT	p.K674N		NM_000130	NP_000121	P12259	FA5_HUMAN	Homo sapiens coagulation factor V (proaccelerin, labile factor) (F5), mRNA.	674	F5/8 type A 2.|Plastocyanin-like 4.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	TCAGCCTCAGCTTTTTGCTTC	0.408000														59			51		1.86277e-20	2.40556e-20	1	1	0
EXTL3	2137	broad.mit.edu	37	8	28574068	28574068	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:28574068C>T	uc003xgz.1	+	2	1085	c.492C>T	c.(490-492)gaC>gaT	p.D164D		NM_001440	NP_001431	O43909	EXTL3_HUMAN	Homo sapiens exostoses (multiple)-like 3 (EXTL3), mRNA.	164						integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding			biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		CAGAGAAGGACGATGCCGGCC	0.602000														29			12		0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57577599	57577599	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57577599A>G	uc001snd.3	+	35	6302	c.5836A>G	c.(5836-5838)Atc>Gtc	p.I1946V		NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	1946					aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CCTGAGCACGATCAGCCGGGC	0.602000														36			11		0	0	1	0	0
PPP1R12A	4659	broad.mit.edu	37	12	80199984	80199984	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:80199984C>A	uc001syz.3	-	12	2052	c.1785G>T	c.(1783-1785)aaG>aaT	p.K595N	PPP1R12A_uc010suc.2_Missense_Mutation_p.K508N|PPP1R12A_uc001sza.3_Intron|PPP1R12A_uc010sud.2_Missense_Mutation_p.K595N|PPP1R12A_uc001szb.3_Missense_Mutation_p.K595N|PPP1R12A_uc001szc.2_Missense_Mutation_p.K595N	NM_002480	NP_001137358	O14974	MYPT1_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 12A (PPP1R12A), transcript variant 1, mRNA.	595	Ser/Thr-rich.					contractile fiber	protein binding|signal transducer activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|liver(1)|lung(4)|ovary(2)|skin(1)	29						CCGTTGTAATCTTTGTAGTAG	0.453000														243			26		3.01185e-09	3.57228e-09	1	1	0
OR5B3	441608	broad.mit.edu	37	11	58170821	58170821	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:58170821A>G	uc010rkf.2	-	0	62	c.62T>C	c.(61-63)cTg>cCg	p.L21P		NM_001005469	NP_001005469	Q8NH48	OR5B3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily B, member 3 (OR5B3), mRNA.	21					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1)	34	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GGGAACCTGCAGTTCTGAGTC	0.418000														122			19		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9045923	9045923	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9045923G>T	uc002mkp.3	-	4	35912	c.35708C>A	c.(35707-35709)tCc>tAc	p.S11903Y		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	11905	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						AGAGGCACTGGAAAGCCCAGA	0.502000														83			30		3.99451e-17	5.08325e-17	1	1	0
PTRF	284119	broad.mit.edu	37	17	40557040	40557040	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:40557040G>A	uc002hzo.3	-	1	1061	c.838C>T	c.(838-840)Cgc>Tgc	p.R280C	PTRF_uc010wgi.2_Missense_Mutation_p.R262C	NM_012232	NP_036364	Q6NZI2	PTRF_HUMAN	Homo sapiens polymerase I and transcript release factor (PTRF), mRNA.	280					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription initiation from RNA polymerase I promoter	caveola|cytosol|endoplasmic reticulum|microsome|mitochondrion|nucleoplasm	protein binding|rRNA primary transcript binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134)		BRCA - Breast invasive adenocarcinoma(366;0.193)		GGCACCAGGCGCGTGCCCAGC	0.637000														29			16		0	0	1	0	0
MARCKSL1	65108	broad.mit.edu	37	1	32800436	32800436	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:32800436G>T	uc001bvd.3	-	1	550	c.350C>A	c.(349-351)tCt>tAt	p.S117Y		NM_023009	NP_075385	P49006	MRP_HUMAN	Homo sapiens MARCKS-like 1 (MARCKSL1), mRNA.	117						plasma membrane	calmodulin binding			breast(1)|large_intestine(3)|lung(1)|ovary(1)	6		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				TGAGGAGGCAGAAGAATCACC	0.572000														23			13		1.52009e-12	1.87729e-12	1	1	0
STAM2	10254	broad.mit.edu	37	2	152988660	152988660	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:152988660T>C	uc002tyc.4	-	10	1343	c.993A>G	c.(991-993)ccA>ccG	p.P331P	STAM2_uc010foa.1_Silent_p.P331P|STAM2_uc002tyd.3_Silent_p.P331P	NM_005843	NP_005834	O75886	STAM2_HUMAN	Homo sapiens signal transducing adaptor molecule (SH3 domain and ITAM motif) 2 (STAM2), mRNA.	331					cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	protein binding			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)	16				BRCA - Breast invasive adenocarcinoma(221;0.22)		CATCTATCATTGGACCCATCT	0.313000														28			23		0	0	1	0	0
MORN3	283385	broad.mit.edu	37	12	122097205	122097205	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:122097205G>A	uc001uax.3	-	1	366	c.195C>T	c.(193-195)gaC>gaT	p.D65D	MORN3_uc001uay.3_Non-coding_Transcript	NM_173855	NP_776254	Q6PF18	MORN3_HUMAN	Homo sapiens MORN repeat containing 3 (MORN3), mRNA.	65										breast(2)|large_intestine(1)|lung(4)|skin(1)|stomach(1)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000409)|Epithelial(86;0.00145)		CAAACTTCCAGTCCCCCTCAT	0.572000														52			8		0	0	1	0	0
ESYT1	23344	broad.mit.edu	37	12	56532196	56532196	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56532196G>T	uc001sjr.3	+	21	2494	c.2376G>T	c.(2374-2376)caG>caT	p.Q792H	ESYT1_uc001sjq.3_Missense_Mutation_p.Q782H	NM_001184796	NP_001171725	Q9BSJ8	ESYT1_HUMAN	Homo sapiens extended synaptotagmin-like protein 1 (ESYT1), transcript variant 1, mRNA.	782	C2 4.					integral to membrane				breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						AGGTGCTGCAGGTGAATAGTT	0.592000														8			3		0.184627	0.186034	1	1	0
ANKRD13B	124930	broad.mit.edu	37	17	27939446	27939446	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:27939446G>A	uc002hei.3	+	11	1398	c.1285G>A	c.(1285-1287)Gcc>Acc	p.A429T	ANKRD13B_uc002heh.3_Missense_Mutation_p.A297T|ANKRD13B_uc002hej.3_Non-coding_Transcript	NM_152345	NP_689558	Q86YJ7	AN13B_HUMAN	Homo sapiens ankyrin repeat domain 13B (ANKRD13B), mRNA.	429										cervix(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	16						CATCCTCAACGCCCGCATCAC	0.637000														8			4		0	0	1	0	0
SF3B1	23451	broad.mit.edu	37	2	198273264	198273264	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:198273264T>C	uc002uue.3	-	7	994	c.946A>G	c.(946-948)Aca>Gca	p.T316A		NM_012433	NP_036565	O75533	SF3B1_HUMAN	Homo sapiens splicing factor 3b, subunit 1, 155kDa (SF3B1), transcript variant 1, mRNA.	316	Interaction with PPP1R8.				nuclear mRNA splicing, via spliceosome	U12-type spliceosomal complex|catalytic step 2 spliceosome|nuclear speck	protein binding			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			CCTCGATCTGTTCGAGGAGTC	0.423000			Mis		myelodysplastic syndrome									63			10		0	0	1	0	0
SLC12A7	10723	broad.mit.edu	37	5	1064315	1064315	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:1064315G>A	uc003jbu.3	-	18	2556	c.2490C>T	c.(2488-2490)aaC>aaT	p.N830N	MIR4635_uc021xvy.1_5'Flank	NM_006598	NP_006589	Q9Y666	S12A7_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 7 (SLC12A7), mRNA.	830					potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	ACGAGTCGACGTTCTTGGCCA	0.682000														15			7		0	0	1	0	0
C7orf31	136895	broad.mit.edu	37	7	25176355	25176355	+	Nonsense_Mutation	SNP	G	A	A	rs146941527	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:25176355G>A	uc003sxn.1	-	9	1570	c.1009C>T	c.(1009-1011)Cga>Tga	p.R337*		NM_138811	NP_620166	Q8N865	CG031_HUMAN	Homo sapiens chromosome 7 open reading frame 31 (C7orf31), mRNA.	337										autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	14						TGAATTAATCGGGCAATTCGT	0.428000														158			51		0	0	1	0	0
PRMT10	90826	broad.mit.edu	37	4	148579097	148579097	+	Silent	SNP	A	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:148579097A>T	uc003ilc.3	-	7	1318	c.1176T>A	c.(1174-1176)ccT>ccA	p.P392P	PRMT10_uc003ilb.3_Silent_p.P36P|PRMT10_uc003ild.3_Silent_p.P279P	NM_138364	NP_612373	Q6P2P2	ANM10_HUMAN	Homo sapiens protein arginine methyltransferase 10 (putative) (PRMT10), mRNA.	392						cytoplasm	binding|protein methyltransferase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						CAATCTTATCAGGCTTTTTAG	0.328000														18			5		0	0	1	0	0
ZSCAN12	9753	broad.mit.edu	37	6	28358597	28358597	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:28358597A>G	uc011dlh.2	-	3	1649	c.1470T>C	c.(1468-1470)atT>atC	p.I490I	ZSCAN12_uc010jre.3_Non-coding_Transcript	NM_001163391	NP_001156863			Homo sapiens zinc finger and SCAN domain containing 12 (ZSCAN12), transcript variant 1, mRNA.											breast(2)|endometrium(3)|urinary_tract(1)	6						CTCCAGTGTGAATTCGCTGAT	0.428000														4			3		0	0	1	0	0
ZCCHC11	23318	broad.mit.edu	37	1	52924096	52924096	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:52924096C>A	uc001cty.2	-	19	3600	c.3347G>T	c.(3346-3348)aGg>aTg	p.R1116M	ZCCHC11_uc001ctx.2_Missense_Mutation_p.R1116M|ZCCHC11_uc009vze.1_Missense_Mutation_p.R1116M|ZCCHC11_uc009vzf.1_Intron	NM_001009881	NP_001009881	Q5TAX3	TUT4_HUMAN	Homo sapiens zinc finger, CCHC domain containing 11 (ZCCHC11), transcript variant 1, mRNA.	1116					RNA 3'-end processing|miRNA catabolic process|pre-miRNA processing|stem cell maintenance	cytoplasm|nucleolus	RNA uridylyltransferase activity|nucleic acid binding|protein binding|zinc ion binding			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						TAAACTTCCCCTGGAAGCATC	0.393000														55			5		1.23904e-05	1.3743e-05	1	1	0
UBA2	10054	broad.mit.edu	37	19	34936026	34936026	+	Splice_Site	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:34936026G>T	uc002nvk.3	+	8	841	c.771_splice	c.e8+1	p.K257_splice	UBA2_uc010xrx.1_Splice_Site_p.K130_splice|UBA2_uc002nvl.3_Splice_Site_p.K161_splice	NM_005499	NP_005490	Q9UBT2	SAE2_HUMAN	Homo sapiens ubiquitin-like modifier activating enzyme 2 (UBA2), mRNA.	257					protein sumoylation	nucleus	ATP binding|SUMO activating enzyme activity|enzyme activator activity|ligase activity|metal ion binding|protein heterodimerization activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	20	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			TTTTTACCAAGGTTAGATTTA	0.308000														46			28		4.22769e-11	5.1512e-11	1	1	0
KRT5	3852	broad.mit.edu	37	12	52913879	52913879	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:52913879G>T	uc001san.3	-	0	365	c.202C>A	c.(202-204)Ctg>Atg	p.L68M	KRT5_uc009zmh.3_Missense_Mutation_p.L68M	NM_000424	NP_000415	P13647	K2C5_HUMAN	Homo sapiens keratin 5 (KRT5), mRNA.	68	Gly-rich.|Head.				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		GAGCCCCCCAGGTTGTAGAGG	0.647000														38			18		1.45105e-14	1.81895e-14	1	1	0
WDR11	55717	broad.mit.edu	37	10	122619736	122619736	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:122619736C>A	uc021pzt.1	+	3	714	c.468C>A	c.(466-468)agC>agA	p.S156R	WDR11_uc010qte.2_Intron|WDR11_uc001lfd.1_5'UTR	NM_018117	NP_060587	Q9BZH6	WDR11_HUMAN	Homo sapiens WD repeat domain 11 (WDR11), mRNA.	156						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						GGAAGAAGAGCTATGCAGATA	0.413000														43			21		2.4624e-09	2.92908e-09	1	1	0
ESPL1	9700	broad.mit.edu	37	12	53682456	53682456	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:53682456C>T	uc001sck.2	+	19	4772	c.4681C>T	c.(4681-4683)Cgg>Tgg	p.R1561W	ESPL1_uc001scj.2_Missense_Mutation_p.R1236W	NM_012291	NP_036423	Q14674	ESPL1_HUMAN	Homo sapiens extra spindle pole bodies homolog 1 (S. cerevisiae) (ESPL1), mRNA.	1561				R -> Q (in Ref. 1; AAR18247 and 2; BAA11482).	apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						TCCTCGGCTCCGGCTCCCCTC	0.587000														37			15		0	0	1	0	0
CDHR3	222256	broad.mit.edu	37	7	105664969	105664969	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:105664969G>T	uc003vdl.4	+	14	2327	c.2219G>T	c.(2218-2220)aGa>aTa	p.R740I	CDHR3_uc003vdk.3_Missense_Mutation_p.Q171H|CDHR3_uc003vdm.4_Missense_Mutation_p.R727I|CDHR3_uc011klt.2_Missense_Mutation_p.R652I|CDHR3_uc003vdn.3_Missense_Mutation_p.Q240H	NM_152750	NP_689963	Q6ZTQ4	CDHR3_HUMAN	Homo sapiens cadherin-related family member 3 (CDHR3), mRNA.	740					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R740G(1)		breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						GCCATCCACAGACACTGCCCC	0.547000														40			12		0.00136819	0.00144449	1	1	0
ZNF573	126231	broad.mit.edu	37	19	38229677	38229677	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:38229677G>A	uc002ohe.3	-	4	1783	c.1714C>T	c.(1714-1716)Cat>Tat	p.H572Y	ZNF573_uc010efs.2_Missense_Mutation_p.H485Y|ZNF573_uc002ohd.3_Missense_Mutation_p.H570Y|ZNF573_uc002ohf.3_Missense_Mutation_p.H514Y|ZNF573_uc002ohg.3_Missense_Mutation_p.H484Y|ZNF573_uc021utv.1_Missense_Mutation_p.H484Y	NM_001172690	NP_001166161	Q86YE8	ZN573_HUMAN	Homo sapiens zinc finger protein 573 (ZNF573), transcript variant 3, mRNA.	552					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146)			ATGCTCTGATGTGCAGTAAGG	0.358000														91			9		0	0	1	0	0
SLC25A6	293	broad.mit.edu	37	X	1508334	1508334	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:1508334G>A	uc004cpt.3	-	1	535	c.398C>T	c.(397-399)cCg>cTg	p.P133L	CRLF2_uc022brt.1_Intron	NM_001636	NP_001627	P12236	ADT3_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6 (SLC25A6), nuclear gene encoding mitochondrial protein, mRNA.	133					active induction of host immune response by virus|apoptosis|energy reserve metabolic process|regulation of insulin secretion|viral infectious cycle	integral to membrane|mitochondrial inner membrane presequence translocase complex	ATP:ADP antiporter activity|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|upper_aerodigestive_tract(1)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Clodronate(DB00720)	GAAATCCAGCGGGTACACGAA	0.662000														74			57		0	0	1	0	0
ESPL1	9700	broad.mit.edu	37	12	53687221	53687221	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:53687221C>T	uc001sck.2	+	30	6417	c.6326C>T	c.(6325-6327)gCa>gTa	p.A2109V	ESPL1_uc001scj.2_Missense_Mutation_p.A1784V|PFDN5_uc001scl.3_5'Flank|PFDN5_uc001scm.3_5'Flank|PFDN5_uc001scn.3_5'Flank|PFDN5_uc001sco.3_5'Flank	NM_012291	NP_036423	Q14674	ESPL1_HUMAN	Homo sapiens extra spindle pole bodies homolog 1 (S. cerevisiae) (ESPL1), mRNA.	2109					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						ATTGGGGCTGCACCTATAGCC	0.542000														42			4		0	0	1	0	0
EMR1	2015	broad.mit.edu	37	19	6904078	6904078	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:6904078C>A	uc002mfw.3	+	7	872	c.834C>A	c.(832-834)acC>acA	p.T278T	EMR1_uc010dvc.3_Silent_p.T278T|EMR1_uc010dvb.3_Silent_p.T226T|EMR1_uc010xji.2_Silent_p.T137T|EMR1_uc010xjj.2_Intron	NM_001974	NP_001965	Q14246	EMR1_HUMAN	Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 1 (EMR1), transcript variant 1, mRNA.	278	EGF-like 6; calcium-binding (Potential).				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					ATCCATCAACCTGTGGTCCTA	0.473000														57			23		7.33532e-06	8.20065e-06	1	1	0
DOCK5	80005	broad.mit.edu	37	8	26227731	26227731	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:26227731G>A	uc003xeu.3	+	9	1475	c.1146G>A	c.(1144-1146)tcG>tcA	p.S382S	DOCK5_uc003xek.3_Silent_p.S383S|DOCK5_uc011laf.2_Silent_p.S392S|DOCK5_uc022atb.1_Non-coding_Transcript	NM_002717	NP_002708	Q9H7D0	DOCK5_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B, alpha (PPP2R2A), transcript variant 1, mRNA.	441						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	p.S382S(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		TAGAAGCATCGCGGGAAAACA	0.418000														26			22		0	0	1	0	0
CACNA1G	8913	broad.mit.edu	37	17	48655621	48655621	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:48655621G>A	uc002irk.1	+	8	2369	c.1997G>A	c.(1996-1998)aGc>aAc	p.S666N	CACNA1G_uc002iri.1_Missense_Mutation_p.S666N|CACNA1G_uc002irj.1_Missense_Mutation_p.S666N|CACNA1G_uc002irl.1_Missense_Mutation_p.S666N|CACNA1G_uc002irm.1_Missense_Mutation_p.S666N|CACNA1G_uc002irn.1_Missense_Mutation_p.S666N|CACNA1G_uc002iro.1_Missense_Mutation_p.S666N|CACNA1G_uc002irp.1_Missense_Mutation_p.S666N|CACNA1G_uc002irq.1_Missense_Mutation_p.S666N|CACNA1G_uc002irr.1_Missense_Mutation_p.S666N|CACNA1G_uc002irs.1_Missense_Mutation_p.S666N|CACNA1G_uc002irt.1_Missense_Mutation_p.S666N|CACNA1G_uc002iru.1_Missense_Mutation_p.S666N|CACNA1G_uc002irv.1_Missense_Mutation_p.S666N|CACNA1G_uc002irw.1_Missense_Mutation_p.S666N|CACNA1G_uc002irx.1_Missense_Mutation_p.S579N|CACNA1G_uc002iry.1_Missense_Mutation_p.S579N|CACNA1G_uc002isg.1_Missense_Mutation_p.S579N|CACNA1G_uc002ish.1_Missense_Mutation_p.S579N|CACNA1G_uc002isi.1_Missense_Mutation_p.S579N|CACNA1G_uc002irz.1_Missense_Mutation_p.S579N|CACNA1G_uc002isa.1_Missense_Mutation_p.S579N|CACNA1G_uc002isd.1_Missense_Mutation_p.S579N|CACNA1G_uc002isb.1_Missense_Mutation_p.S579N|CACNA1G_uc002isc.1_Missense_Mutation_p.S579N|CACNA1G_uc002ise.1_Missense_Mutation_p.S579N|CACNA1G_uc002isf.1_Missense_Mutation_p.S579N	NM_018896	NP_061496	O43497	CAC1G_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1G subunit (CACNA1G), transcript variant 1, mRNA.	666					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GGTCCAGACAGCTGCCCCTAC	0.597000														40			18		0	0	1	0	0
NELL1	4745	broad.mit.edu	37	11	20699541	20699541	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:20699541A>G	uc009yid.3	+	2	356	c.203A>G	c.(202-204)aAc>aGc	p.N68S	NELL1_uc010rdp.2_5'UTR|NELL1_uc001mqe.3_Missense_Mutation_p.N40S|NELL1_uc001mqf.3_Missense_Mutation_p.N40S|NELL1_uc010rdo.2_Missense_Mutation_p.N40S	NM_006157	NP_006148	Q92832	NELL1_HUMAN	Homo sapiens NEL-like 1 (chicken) (NELL1), transcript variant 1, mRNA.	40					cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						GACCTTGTGAACACCACCCTT	0.488000														58			28		0	0	1	0	0
PMS2P1	5379	broad.mit.edu	37	7	99930089	99930089	+	RNA	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:99930089G>T	uc003uuh.2	-	1		c.586C>A			PMS2P1_uc003uui.2_Non-coding_Transcript|PMS2P1_uc010lgv.1_Non-coding_Transcript|PMS2P1_uc003uuj.1_Non-coding_Transcript|PMS2P1_uc022aik.1_Intron					Homo sapiens postmeiotic segregation increased 2 pseudogene 1 (PMS2P1), non-coding RNA.											endometrium(1)|lung(3)	4						CCAGCATCCAGACTGTTTTCT	0.433000														309			88		8.32725e-61	1.11084e-60	1	1	0
ABCA9	10350	broad.mit.edu	37	17	66979978	66979978	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:66979978G>A	uc002jhu.3	-	35	4655	c.4512C>T	c.(4510-4512)tcC>tcT	p.S1504S	ABCA9_uc010dez.3_Silent_p.S1466S	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 9 (ABCA9), mRNA.	1504	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					GGTGTTGGATGGAACCAATAC	0.468000														49			35		0	0	1	0	0
STAG2	10735	broad.mit.edu	37	X	123185164	123185164	+	Splice_Site	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:123185164G>T	uc004eua.3	+	13	1521	c.1117_splice	c.e13-1	p.D373_splice	STAG2_uc004etz.4_Splice_Site_p.D373_splice|STAG2_uc004eub.3_Splice_Site_p.D373_splice|STAG2_uc004euc.3_Splice_Site_p.D373_splice|STAG2_uc004eud.3_Splice_Site_p.D373_splice|STAG2_uc004eue.3_Splice_Site_p.D373_splice	NM_001042749	NP_001036215	Q8N3U4	STAG2_HUMAN	Homo sapiens stromal antigen 2 (STAG2), transcript variant 1, mRNA.	373	SCD.				cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						tttGTCCTTAGGATAGAATTG	0.279000														77			7		0.00198382	0.00208369	1	1	0
NBPF15	284565	broad.mit.edu	37	1	148594505	148594505	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:148594505G>T	uc001esb.2	+	21	3040	c.1878G>T	c.(1876-1878)caG>caT	p.Q626H	NBPF15_uc001esc.2_Missense_Mutation_p.Q626H	NM_001170755	NP_775909	Q8N660	NBPFF_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 15 (NBPF15), transcript variant 1, mRNA.	626	NBPF 6.					cytoplasm				NS(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12	all_hematologic(923;0.032)					ACTCATTCCAGCACTACAGAA	0.448000														293			171		2.65309e-104	3.54274e-104	1	1	0
ZNF569	148266	broad.mit.edu	37	19	37904943	37904943	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:37904943C>A	uc002ogj.3	-	8	1621	c.689G>T	c.(688-690)aGa>aTa	p.R230I	ZNF569_uc002ogh.3_Missense_Mutation_p.R47I|ZNF569_uc002ogi.3_Missense_Mutation_p.R206I	NM_152484	NP_689697	Q5MCW4	ZN569_HUMAN	Homo sapiens zinc finger protein 569 (ZNF569), mRNA.	206					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AGTATGAATTCTCAGATGTCT	0.368000														46			29		3.99451e-17	5.08325e-17	1	1	0
C16orf88	400506	broad.mit.edu	37	16	19725641	19725641	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:19725641A>G	uc002dgq.3	-	1	732	c.717T>C	c.(715-717)ccT>ccC	p.P239P	IQCK_uc002dgr.3_5'Flank|IQCK_uc002dgs.3_5'Flank	NM_001012991	NP_001013009	Q1ED39	CP088_HUMAN	Homo sapiens chromosome 16 open reading frame 88 (C16orf88), mRNA.	239	Lys-rich.					nucleolus				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|stomach(1)|urinary_tract(1)	13						TTCCTTTCCTAGGGCTGCTCT	0.498000														65			5		0	0	1	0	0
OR6C74	254783	broad.mit.edu	37	12	55641583	55641583	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:55641583C>T	uc010spg.2	+	0	512	c.512C>T	c.(511-513)aCt>aTt	p.T171I		NM_001005490	NP_001005490	A6NCV1	O6C74_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 74 (OR6C74), mRNA.	171					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	12						GCAGCCAACACTGTAGATCAT	0.443000														54			22		0	0	1	0	0
AVPR2	554	broad.mit.edu	37	X	153171565	153171565	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153171565G>A	uc004fjh.4	+	1	777	c.605G>A	c.(604-606)cGt>cAt	p.R202H	AVPR2_uc004fjg.4_5'UTR|AVPR2_uc004fji.3_Missense_Mutation_p.R202H	NM_000054	NP_000045	P30518	V2R_HUMAN	Homo sapiens arginine vasopressin receptor 2 (AVPR2), transcript variant 1, mRNA.	202			R -> C (in XNDI).		G-protein signaling, coupled to cAMP nucleotide second messenger|activation of adenylate cyclase activity|excretion|hemostasis|positive regulation of gene expression|transmembrane transport|water transport	Golgi apparatus|endoplasmic reticulum|endosome|integral to plasma membrane	vasopressin receptor activity	p.R202H(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	26	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Conivaptan(DB00872)|Terlipressin(DB02638)|Vasopressin(DB00067)	CCCTGGGGCCGTCGCACCTAT	0.632000														56			10		0	0	1	0	0
SLC15A2	6565	broad.mit.edu	37	3	121634112	121634112	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:121634112G>A	uc003eep.2	+	5	720	c.567G>A	c.(565-567)ctG>ctA	p.L189L	SLC15A2_uc011bjn.1_Silent_p.L158L	NM_021082	NP_066568	Q16348	S15A2_HUMAN	Homo sapiens solute carrier family 15 (H+/peptide transporter), member 2 (SLC15A2), transcript variant 1, mRNA.	189					protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Cefadroxil(DB01140)	TCTTCTACCTGTCCATCAATG	0.478000														72			7		0	0	1	0	0
FLT4	2324	broad.mit.edu	37	5	180049799	180049799	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:180049799G>A	uc003mlz.4	-	11	1668	c.1589C>T	c.(1588-1590)gCc>gTc	p.A530V	FLT4_uc003mma.4_Missense_Mutation_p.A530V|FLT4_uc003mmb.1_Missense_Mutation_p.A63V|FLT4_uc011dgy.2_Missense_Mutation_p.A530V	NM_182925	NP_891555	P35916	VGFR3_HUMAN	Homo sapiens fms-related tyrosine kinase 4 (FLT4), transcript variant 1, mRNA.	530	Ig-like C2-type 5.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	CTTGTACATGGCAGACACGTT	0.577000														24			14		0	0	1	0	0
PKD1	5310	broad.mit.edu	37	16	2153459	2153459	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:2153459C>T	uc002cos.1	-	22	8808	c.8599G>A	c.(8599-8601)Gcc>Acc	p.A2867T	TCRBV20S1_uc021tak.1_Intron|PKD1_uc002cot.1_Missense_Mutation_p.A2867T|PKD1_uc010bse.1_Non-coding_Transcript	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	Homo sapiens polycystic kidney disease 1 (autosomal dominant) (PKD1), transcript variant 1, mRNA.	2867					calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CGCTCTGAGGCCAGCCGCTCG	0.642000														52			19		0	0	1	0	0
BCAS3	54828	broad.mit.edu	37	17	59112048	59112048	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:59112048A>G	uc002iyv.4	+	17	1813	c.1704A>G	c.(1702-1704)caA>caG	p.Q568Q	BCAS3_uc010wow.1_Silent_p.Q340Q|BCAS3_uc002iyu.4_Silent_p.Q553Q|BCAS3_uc002iyw.4_Silent_p.Q549Q|BCAS3_uc002iyy.4_Silent_p.Q324Q|BCAS3_uc002iyz.4_Silent_p.Q122Q|BCAS3_uc002iza.4_Silent_p.Q107Q	NM_001099432	NP_001092902	Q9H6U6	BCAS3_HUMAN	Homo sapiens breast carcinoma amplified sequence 3 (BCAS3), transcript variant 1, mRNA.	568						nucleus				NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			CTCCTCCACAAATTTCACCCA	0.353000														63			6		0	0	1	0	0
SUSD4	55061	broad.mit.edu	37	1	223441962	223441962	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:223441962A>G	uc001hnx.3	-	2	1051	c.417T>C	c.(415-417)caT>caC	p.H139H	SUSD4_uc001hny.4_Silent_p.H139H|SUSD4_uc010puw.2_5'UTR|SUSD4_uc001hnz.2_Silent_p.H139H|SUSD4_uc010pux.1_Silent_p.H68H	NM_017982	NP_060452	Q5VX71	SUSD4_HUMAN	Homo sapiens sushi domain containing 4 (SUSD4), transcript variant 1, mRNA.	139	Sushi 2.					integral to membrane				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		GCTTCTCTCCATGTCTATATG	0.378000														104			10		0	0	1	0	0
KIAA1683	80726	broad.mit.edu	37	19	18377077	18377077	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:18377077C>T	uc010ebn.2	-	2	1489	c.1273G>A	c.(1273-1275)Gca>Aca	p.A425T	KIAA1683_uc002nin.2_Missense_Mutation_p.A425T|KIAA1683_uc010xqe.1_Missense_Mutation_p.A379T	NM_001145304	NP_001138776	Q9H0B3	K1683_HUMAN	Homo sapiens KIAA1683 (KIAA1683), transcript variant 1, mRNA.	425						mitochondrion				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						CGGTTCTTTGCCGTGATGGTC	0.607000														47			32		0	0	1	0	0
ITPKC	80271	broad.mit.edu	37	19	41223437	41223437	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:41223437A>C	uc002oot.3	+	0	430	c.397A>C	c.(397-399)Acg>Ccg	p.T133P	ADCK4_uc002ooq.2_5'Flank|ADCK4_uc002oor.2_5'Flank|ADCK4_uc002oos.2_5'Flank	NM_025194	NP_079470	Q96DU7	IP3KC_HUMAN	Homo sapiens inositol-trisphosphate 3-kinase C (ITPKC), mRNA.	133						cytoplasm|nucleus	ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	14			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			AGAGCTGGAGACGACTTGTCT	0.607000														61			4		0	0	1	0	0
OCA2	4948	broad.mit.edu	37	15	28230277	28230277	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:28230277C>T	uc001zbh.4	-	12	1407	c.1297G>A	c.(1297-1299)Gcg>Acg	p.A433T	OCA2_uc010ayv.3_Missense_Mutation_p.A409T	NM_000275	NP_000266	Q04671	P_HUMAN	Homo sapiens oculocutaneous albinism II (OCA2), mRNA.	433					eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	L-tyrosine transmembrane transporter activity|arsenite transmembrane transporter activity|citrate transmembrane transporter activity|protein binding	p.A433A(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		AGGACGGCCGCGATGAGACAG	0.597000									Oculocutaneous Albinism					16			13		0	0	1	0	0
SLC6A12	6539	broad.mit.edu	37	12	318999	318999	+	Nonsense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:318999C>A	uc001qhz.3	-	3	818	c.154G>T	c.(154-156)Gag>Tag	p.E52*	SLC6A12_uc001qia.3_Nonsense_Mutation_p.E52*|SLC6A12_uc001qib.3_Nonsense_Mutation_p.E52*|SLC6A12_uc009zdh.2_Nonsense_Mutation_p.E52*|SLC6A12_uc009zdi.1_Intron	NM_003044	NP_003035	P48065	S6A12_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, betaine/GABA), member 12 (SLC6A12), transcript variant 1, mRNA.	52					cellular nitrogen compound metabolic process|neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00227)			CCAATGATCTCCCCGGCCACT	0.562000														73			32		3.11337e-16	3.94066e-16	1	1	0
BPTF	2186	broad.mit.edu	37	17	65850685	65850685	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:65850685G>A	uc002jgf.3	+	1	1304	c.1243G>A	c.(1243-1245)Gaa>Aaa	p.E415K	BPTF_uc002jge.3_Missense_Mutation_p.E415K|BPTF_uc010wqm.1_Missense_Mutation_p.E415K	NM_182641	NP_872579	Q12830	BPTF_HUMAN	Homo sapiens bromodomain PHD finger transcription factor (BPTF), transcript variant 1, mRNA.	415					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex|cytoplasm	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			ATACCATTTGGAATGTGTGAA	0.488000														93			49		0	0	1	0	0
PDE4B	5142	broad.mit.edu	37	1	66831427	66831427	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:66831427C>T	uc001dcn.3	+	12	1553	c.1362C>T	c.(1360-1362)tcC>tcT	p.S454S	PDE4B_uc009war.3_Silent_p.S362S|PDE4B_uc001dco.3_Silent_p.S454S|PDE4B_uc001dcp.3_Silent_p.S439S|PDE4B_uc001dcq.3_Silent_p.S282S|PDE4B_uc009was.3_Silent_p.S221S	NM_001037341	NP_002591	Q07343	PDE4B_HUMAN	Homo sapiens phosphodiesterase 4B, cAMP-specific (PDE4B), transcript variant d, mRNA.	454					signal transduction	cytosol|insoluble fraction|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	p.V453V(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277)	CTGGAGTCTCCAATCAGTTTC	0.413000														33			5		0	0	1	0	0
GUCY1A2	2977	broad.mit.edu	37	11	106849401	106849401	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:106849401T>G	uc009yxn.1	-	2	821	c.431A>C	c.(430-432)aAc>aCc	p.N144T	GUCY1A2_uc001pjg.1_Missense_Mutation_p.N144T|GUCY1A2_uc010rvo.1_Missense_Mutation_p.N144T	NM_000855	NP_000846	P33402	GCYA2_HUMAN	Homo sapiens guanylate cyclase 1, soluble, alpha 2 (GUCY1A2), transcript variant 2, mRNA.	144					intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding	p.S143C(1)		breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)		TTCTTCTTTGTTGGAGTGGTC	0.328000														32			19		0	0	1	0	0
MAPK8IP1	9479	broad.mit.edu	37	11	45926110	45926110	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:45926110C>T	uc001nbr.3	+	7	2096	c.1771C>T	c.(1771-1773)Caa>Taa	p.Q591*		NM_005456	NP_005447	Q9UQF2	JIP1_HUMAN	Homo sapiens mitogen-activated protein kinase 8 interacting protein 1 (MAPK8IP1), mRNA.	591	PID.				vesicle-mediated transport	nucleus|perinuclear region of cytoplasm	MAP-kinase scaffold activity|kinesin binding|protein kinase inhibitor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)	24				GBM - Glioblastoma multiforme(35;0.231)		TGCTGCTATGCAAAAGGTACC	0.592000														27			20		0	0	1	0	0
HCN3	57657	broad.mit.edu	37	1	155254415	155254415	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155254415C>A	uc001fjz.1	+	3	964	c.956C>A	c.(955-957)cCt>cAt	p.P319H	HCN3_uc010pfz.1_Intron	NM_020897	NP_065948	Q9P1Z3	HCN3_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 3 (HCN3), mRNA.	319						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CAGCAGGCACCTGTAGGCATG	0.597000														34			20		1.22574e-08	1.44238e-08	1	1	0
CAND2	23066	broad.mit.edu	37	3	12858532	12858532	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:12858532G>A	uc003bxk.2	+	9	2150	c.2101G>A	c.(2101-2103)Gcc>Acc	p.A701T	CAND2_uc003bxj.2_Missense_Mutation_p.A608T	NM_001162499	NP_001155971	O75155	CAND2_HUMAN	Homo sapiens cullin-associated and neddylation-dissociated 2 (putative) (CAND2), transcript variant 1, mRNA.	701					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						TGAGCTGCCTGCCCTGGTCAA	0.672000														33			4		0	0	1	0	0
UBE2O	63893	broad.mit.edu	37	17	74394562	74394562	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:74394562G>A	uc002jrm.4	-	10	1952	c.1887C>T	c.(1885-1887)gaC>gaT	p.D629D	UBE2O_uc002jrn.4_Silent_p.D629D|UBE2O_uc002jrl.4_Silent_p.D232D	NM_022066	NP_071349	Q9C0C9	UBE2O_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2O (UBE2O), mRNA.	629							ATP binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						CCTCCACGTCGTCCCCACTCG	0.607000											OREG0024751	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		67			39		0	0	1	0	0
NOTCH4	4855	broad.mit.edu	37	6	32169988	32169988	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:32169988A>G	uc003obb.3	-	20	3759	c.3620T>C	c.(3619-3621)gTc>gCc	p.V1207A	NOTCH4_uc003oba.3_5'UTR|NOTCH4_uc011dpu.2_Intron|NOTCH4_uc011dpv.2_Intron	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	Homo sapiens notch 4 (NOTCH4), mRNA.	1207					Notch receptor processing|Notch signaling pathway|cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GGGGTCTGGGACTCCCAGAGA	0.642000														35			17		0	0	1	0	0
CDCP1	64866	broad.mit.edu	37	3	45132744	45132744	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:45132744G>A	uc003com.3	-	6	2049	c.1914C>T	c.(1912-1914)gtC>gtT	p.V638V		NM_022842	NP_073753	Q9H5V8	CDCP1_HUMAN	Homo sapiens CUB domain containing protein 1 (CDCP1), transcript variant 1, mRNA.	638						extracellular region|integral to membrane|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		TAGAGATGTTGACCCAGAAGC	0.577000														45			24		0	0	1	0	0
FANCM	57697	broad.mit.edu	37	14	45633578	45633578	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:45633578G>A	uc001wwd.4	+	9	1697	c.1598G>A	c.(1597-1599)cGt>cAt	p.R533H	FANCM_uc001wwc.2_Missense_Mutation_p.R533H|FANCM_uc010anf.3_Missense_Mutation_p.R507H|FANCM_uc001wwe.4_Intron	NM_020937	NP_065988	Q8IYD8	FANCM_HUMAN	Homo sapiens Fanconi anemia, complementation group M (FANCM), mRNA.	533	Helicase C-terminal.				DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|DNA binding|chromatin binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						AAACAGTTTCGTGACGGTGGT	0.368000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia					33			19		0	0	1	0	0
SESN1	27244	broad.mit.edu	37	6	109321740	109321740	+	Missense_Mutation	SNP	T	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:109321740T>A	uc003psu.3	-	3	1115	c.683A>T	c.(682-684)aAa>aTa	p.K228I	SESN1_uc021zdp.1_Missense_Mutation_p.K103I|SESN1_uc003pst.4_Missense_Mutation_p.K169I	NM_014454	NP_001186863	Q9Y6P5	SESN1_HUMAN	Homo sapiens sestrin 1 (SESN1), transcript variant 1, mRNA.	169					cell cycle arrest|negative regulation of cell proliferation|response to DNA damage stimulus	nucleus				cervix(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	10		all_cancers(87;6.45e-05)|Acute lymphoblastic leukemia(125;3.55e-10)|all_hematologic(75;1.68e-07)|all_epithelial(87;0.0106)|Colorectal(196;0.0637)		Epithelial(106;0.0014)|BRCA - Breast invasive adenocarcinoma(108;0.00146)|all cancers(137;0.0031)|OV - Ovarian serous cystadenocarcinoma(136;0.0117)		GGCTAACACTTTGTTAAGTTC	0.403000														77			14		0	0	1	0	0
PPIP5K1	9677	broad.mit.edu	37	15	43973271	43973271	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:43973271C>T	uc010bdn.1	-	8	1096	c.928G>A	c.(928-930)Gta>Ata	p.V310I	PPIP5K1_uc001zsm.2_Missense_Mutation_p.V310I	NM_014659	NP_055474	Q6PFW1	VIP1_HUMAN	Homo sapiens diphosphoinositol pentakisphosphate kinase 1 (PPIP5K1), transcript variant 2, mRNA.	310					inositol metabolic process	cytosol	ATP binding|acid phosphatase activity|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity			large_intestine(1)	1						TTGAAAGCTACGCAGACTTTC	0.502000														36			36		0	0	1	0	0
PRKDC	5591	broad.mit.edu	37	8	48731985	48731985	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:48731985G>T	uc003xqi.3	-	67	9477	c.9420C>A	c.(9418-9420)ttC>ttA	p.F3140L	PRKDC_uc003xqj.3_Missense_Mutation_p.F3140L	NM_006904	NP_008835	P78527	PRKDC_HUMAN	Homo sapiens protein kinase, DNA-activated, catalytic polypeptide (PRKDC), transcript variant 1, mRNA.	3141	FAT.|KIP-binding.				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				TAAAGCTGATGAACTCCTGAA	0.299000								Non-homologous end-joining						75			6		0.00307968	0.00322291	1	1	0
RAI1	10743	broad.mit.edu	37	17	17698006	17698006	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:17698006G>A	uc002grm.3	+	2	2213	c.1744G>A	c.(1744-1746)Gac>Aac	p.D582N	RAI1_uc002grn.1_Missense_Mutation_p.D582N	NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN	Homo sapiens retinoic acid induced 1 (RAI1), mRNA.	582						cytoplasm|nucleus	zinc ion binding	p.D582A(1)		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)		TCTGCCGCTCGACAGCTTCTC	0.637000														61			6		0	0	1	0	0
ERN1	2081	broad.mit.edu	37	17	62125289	62125289	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:62125289G>A	uc002jdz.2	-	18	2571	c.2458C>T	c.(2458-2460)Cgc>Tgc	p.R820C		NM_001433	NP_001424	O75460	ERN1_HUMAN	Homo sapiens endoplasmic reticulum to nucleus signaling 1 (ERN1), mRNA.	820	Protein kinase.				activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to endoplasmic reticulum membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						GCTGAGGGGCGTTTCTGAGGA	0.468000														28			17		0	0	1	0	0
CD93	22918	broad.mit.edu	37	20	23065232	23065232	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:23065232T>C	uc002wsv.3	-	0	1746	c.1598A>G	c.(1597-1599)aAg>aGg	p.K533R		NM_012072	NP_036204	Q9NPY3	C1QR1_HUMAN	Homo sapiens CD93 molecule (CD93), mRNA.	533					cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GGCCAGCATCTTGAGTGGGGC	0.672000														47			31		0	0	1	0	0
ROPN1B	152015	broad.mit.edu	37	3	125694466	125694466	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:125694466C>T	uc003eih.3	+	2	405	c.177C>T	c.(175-177)gtC>gtT	p.V59V	ROPN1B_uc010hsb.3_Silent_p.V59V|ROPN1B_uc010hsc.3_5'UTR|ROPN1B_uc011bkg.2_Silent_p.V59V	NM_001012337	NP_001012337	Q9BZX4	ROP1B_HUMAN	Homo sapiens rhophilin associated tail protein 1B (ROPN1B), mRNA.	59					Rho protein signal transduction|acrosome reaction|cell-cell adhesion|cytokinesis|fusion of sperm to egg plasma membrane|sperm motility|spermatogenesis	cytoplasm|flagellum	cAMP-dependent protein kinase regulator activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling complex scaffold activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|stomach(1)	8				GBM - Glioblastoma multiforme(114;0.151)		CTGAGCGAGTCGCTTTGTGTA	0.512000														36			23		0	0	1	0	0
GADL1	339896	broad.mit.edu	37	3	30842578	30842578	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:30842578A>G	uc003cep.2	-	11	1100	c.1053T>C	c.(1051-1053)gaT>gaC	p.D351D	GADL1_uc003ceq.1_Silent_p.D351D	NM_207359	NP_997242	Q6ZQY3	GADL1_HUMAN	Homo sapiens glutamate decarboxylase-like 1 (GADL1), mRNA.	351					carboxylic acid metabolic process		carboxy-lyase activity|pyridoxal phosphate binding			breast(2)|endometrium(3)|kidney(2)|lung(17)|upper_aerodigestive_tract(1)	25					Pyridoxal Phosphate(DB00114)	TTTTAAGAAGATCCTTCGAAA	0.353000														40			24		0	0	1	0	0
OR52E4	390081	broad.mit.edu	37	11	5906257	5906257	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:5906257T>C	uc010qzs.2	+	0	735	c.735T>C	c.(733-735)caT>caC	p.H245H	TRIM5_uc001mbq.1_Intron	NM_001005165	NP_001005165	Q8NGH9	O52E4_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily E, member 4 (OR52E4), mRNA.	245					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTGGTTCTCATGTCTGTGTTA	0.403000														79			99		0	0	1	0	0
MDGA2	161357	broad.mit.edu	37	14	47530558	47530558	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:47530558G>A	uc001wwj.4	-	6	1577	c.1419C>T	c.(1417-1419)atC>atT	p.I473I	MDGA2_uc001wwi.4_Silent_p.I175I|MDGA2_uc010ani.3_5'UTR	NM_001113498	NP_878250	Q7Z553	MDGA2_HUMAN	Homo sapiens MAM domain containing glycosylphosphatidylinositol anchor 2 (MDGA2), transcript variant 1, mRNA.	404	Ig-like 5.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						TTAAATCAATGATGTCCAAGT	0.398000														83			47		0	0	1	0	0
DTWD2	285605	broad.mit.edu	37	5	118264322	118264322	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:118264322A>G	uc003ksa.3	-	3	541	c.507T>C	c.(505-507)gtT>gtC	p.V169V		NM_173666	NP_775937	Q8NBA8	DTWD2_HUMAN	Homo sapiens DTW domain containing 2 (DTWD2), mRNA.	169										breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)	13		all_epithelial(76;0.0982)|Prostate(80;0.121)		OV - Ovarian serous cystadenocarcinoma(64;0.000228)|Epithelial(69;0.000941)|all cancers(49;0.00939)		TAGAAGGATAAACAGGAGAAT	0.383000														96			8		0	0	1	0	0
ZNF638	27332	broad.mit.edu	37	2	71626719	71626719	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:71626719C>A	uc002shx.3	+	12	2854	c.2531C>A	c.(2530-2532)gCc>gAc	p.A844D	ZNF638_uc010yqw.1_Missense_Mutation_p.A423D|ZNF638_uc002shz.3_Missense_Mutation_p.A844D|ZNF638_uc002shy.3_Missense_Mutation_p.A844D|ZNF638_uc002sia.3_Missense_Mutation_p.A844D|ZNF638_uc002sib.1_Missense_Mutation_p.A844D|ZNF638_uc002sic.3_5'UTR	NM_014497	NP_055312	Q14966	ZN638_HUMAN	Homo sapiens zinc finger protein 638 (ZNF638), transcript variant 1, mRNA.	844					RNA splicing	cytoplasm|nuclear speck	RNA binding|double-stranded DNA binding|nucleotide binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						TCTCTAGAAGCCAAAAAGACT	0.353000														126			6		0.00621372	0.00645399	1	1	0
C11orf2	738	broad.mit.edu	37	11	64875106	64875106	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:64875106C>T	uc001ocr.1	+	2	452	c.412C>T	c.(412-414)Cgg>Tgg	p.R138W	C11orf2_uc001ocs.1_Missense_Mutation_p.R14W	NM_013265	NP_037397	Q9UID3	FFR_HUMAN	Homo sapiens chromosome 11 open reading frame 2 (C11orf2), mRNA.	138					lipid transport|protein transport	Golgi apparatus|integral to membrane				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|prostate(1)	15						TGAGATGGACCGGCTGGCCAC	0.627000														32			8		0	0	1	0	0
LPP	4026	broad.mit.edu	37	3	188327202	188327202	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:188327202C>A	uc003frs.2	+	5	929	c.683C>A	c.(682-684)gCc>gAc	p.A228D	LPP_uc011bsg.2_Intron|LPP_uc011bsi.2_Missense_Mutation_p.A228D|LPP_uc003frt.3_Missense_Mutation_p.A228D|LPP_uc011bsj.2_Missense_Mutation_p.A65D	NM_005578	NP_005569	Q93052	LPP_HUMAN	Homo sapiens LIM domain containing preferred translocation partner in lipoma (LPP), transcript variant 1, mRNA.	228	Pro-rich.				cell adhesion	cytoplasm|focal adhesion|nucleus	protein binding|zinc ion binding		HMGA2/LPP(161)	NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)		GTGAAGTCAGCCCAGCCCAGC	0.562000			T	"""HMGA2, MLL, C12orf9"""	"""lipoma, leukemia"""									31			27		7.07758e-08	8.22544e-08	1	1	0
MRPS27	23107	broad.mit.edu	37	5	71528293	71528293	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:71528293G>T	uc011cse.2	-	7	646	c.610C>A	c.(610-612)Ctg>Atg	p.L204M	MRPS27_uc003kca.4_Missense_Mutation_p.L134M|MRPS27_uc003kbz.4_Missense_Mutation_p.L190M|MRPS27_uc010iza.3_Missense_Mutation_p.L134M|MRPS27_uc010iyz.1_Non-coding_Transcript	NM_015084	NP_055899	Q92552	RT27_HUMAN	Homo sapiens mitochondrial ribosomal protein S27 (MRPS27), nuclear gene encoding mitochondrial protein, mRNA.	190						mitochondrion|ribosome				breast(1)|endometrium(1)|large_intestine(2)|lung(2)	6		Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.46e-53)		TTCTTTGCCAGGCAATGAAAT	0.418000														35			15		3.27435e-08	3.82583e-08	1	1	0
RNF213	57674	broad.mit.edu	37	17	78319744	78319744	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:78319744C>T	uc002jyh.2	+	29	7899	c.7756C>T	c.(7756-7758)Cgt>Tgt	p.R2586C	RNF213_uc021uen.1_Missense_Mutation_p.R2537C	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	SubName: Full=Uncharacterized protein;	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GATGATCTGCCGTTTGGAGTC	0.562000														42			20		0	0	1	0	0
UACA	55075	broad.mit.edu	37	15	70960101	70960101	+	Silent	SNP	G	A	A	rs149154885		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:70960101G>A	uc002asr.3	-	15	3026	c.2922C>T	c.(2920-2922)ctC>ctT	p.L974L	UACA_uc010uke.2_Silent_p.L865L|UACA_uc002asq.3_Silent_p.L961L|UACA_uc010bin.1_Silent_p.L949L	NM_018003	NP_060473	Q9BZF9	UACA_HUMAN	Homo sapiens uveal autoantigen with coiled-coil domains and ankyrin repeats (UACA), transcript variant 1, mRNA.	974						cytoskeleton|extracellular region				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						GTATTGTGTCGAGCTCCTTCT	0.418000														67			49		0	0	1	0	0
ABCA3	21	broad.mit.edu	37	16	2367363	2367363	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:2367363G>T	uc002cpy.1	-	9	1744	c.1032C>A	c.(1030-1032)tcC>tcA	p.S344S	ABCA3_uc010bsk.1_Silent_p.S344S|ABCA3_uc010bsl.1_Silent_p.S344S	NM_001089	NP_001080	Q99758	ABCA3_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 3 (ABCA3), mRNA.	344					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				CGAGCACCAGGGAGGGGTCGC	0.622000														98			14		4.36969e-10	5.24943e-10	1	1	0
HYDIN	54768	broad.mit.edu	37	GL000192.1	160420	160420	+	RNA	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrGL000192.1:160420T>G	uc010yih.1	-	11		c.2002A>C						Q4G0P3	HYDIN_HUMAN	Homo sapiens mRNA for KIAA1864 protein, partial cds.											breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				AGCTCTTCCTTCTCAGACATT	0.458000														147			9		0	0	1	0	0
LAMB4	22798	broad.mit.edu	37	7	107707029	107707029	+	Silent	SNP	A	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:107707029A>T	uc010ljo.1	-	19	2547	c.2463T>A	c.(2461-2463)ccT>ccA	p.P821P	LAMB4_uc003vey.2_Silent_p.P821P|LAMB4_uc010ljp.1_5'Flank	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	Homo sapiens laminin, beta 4 (LAMB4), mRNA.	821	Laminin EGF-like 7.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						TTGATCCTTGAGGATGGCAGT	0.537000														24			4		0	0	1	0	0
RAD54B	25788	broad.mit.edu	37	8	95470649	95470649	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:95470649T>C	uc003ygk.3	-	2	282	c.151A>G	c.(151-153)Aac>Gac	p.N51D	RAD54B_uc003ygl.2_Non-coding_Transcript|RAD54B_uc003ygn.2_Missense_Mutation_p.N51D	NM_012415	NP_001192192	O95073	FSBP_HUMAN	Homo sapiens RAD54 homolog B (S. cerevisiae) (RAD54B), transcript variant 1, mRNA.	0					double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA translocase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			AGAAAGGTGTTATTAATTGCA	0.284000								Direct reversal of damage;Homologous recombination						49			5		0	0	1	0	0
SLK	9748	broad.mit.edu	37	10	105785379	105785379	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:105785379C>A	uc001kxo.1	+	18	3643	c.3609C>A	c.(3607-3609)ttC>ttA	p.F1203L	SLK_uc001kxp.1_Missense_Mutation_p.F1172L	NM_014720	NP_055535	Q9H2G2	SLK_HUMAN	Homo sapiens STE20-like kinase (SLK), mRNA.	1203					apoptosis|nucleotide-excision repair	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity			kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		AGGAAGTATTCTTTAAAATGA	0.388000														60			5		0.184627	0.186034	1	1	0
OR5M8	219484	broad.mit.edu	37	11	56258291	56258291	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:56258291G>A	uc001nix.1	-	0	556	c.556C>T	c.(556-558)Ctg>Ttg	p.L186L	OR8U8_uc001nit.2_Intron	NM_001005282	NP_001005282	Q8NGP6	OR5M8_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 8 (OR5M8), mRNA.	186					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					GAACAAGCCAGCTTAATCAGT	0.453000														74			9		0	0	1	0	0
MSLN	10232	broad.mit.edu	37	16	812739	812739	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:812739G>T	uc002cjw.2	+	1	170	c.59G>T	c.(58-60)aGc>aTc	p.S20I	MSLN_uc002cju.1_Missense_Mutation_p.S20I|MSLN_uc002cjt.1_Missense_Mutation_p.S20I|MSLN_uc010brd.1_Missense_Mutation_p.S20I	NM_013404	NP_037536	Q13421	MSLN_HUMAN	Homo sapiens mesothelin (MSLN), transcript variant 2, mRNA.	20					cell adhesion	Golgi apparatus|anchored to membrane|extracellular region|plasma membrane				breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20		Hepatocellular(780;0.00335)				GCCCTCGGCAGCCTCCTGTTC	0.687000														72			47		1.67211e-32	2.21032e-32	1	1	0
ATP1A2	477	broad.mit.edu	37	1	160097377	160097377	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:160097377C>T	uc001fvc.3	+	7	916	c.784C>T	c.(784-786)Cgg>Tgg	p.R262W	ATP1A2_uc001fvb.2_Missense_Mutation_p.R262W|ATP1A2_uc010piz.1_Missense_Mutation_p.R107W|ATP1A2_uc001fvd.3_5'UTR|ATP1A2_uc009wtg.1_5'Flank	NM_000702	NP_000693	P50993	AT1A2_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 2 polypeptide (ATP1A2), mRNA.	262					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			CACAGGAGACCGGACGGTGAT	0.592000														22			24		0	0	1	0	0
SYNRG	11276	broad.mit.edu	37	17	35900587	35900587	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:35900587A>G	uc002hoa.3	-	15	3344	c.3261T>C	c.(3259-3261)tcT>tcC	p.S1087S	SYNRG_uc010wde.2_Silent_p.S1009S|SYNRG_uc010wdf.2_Silent_p.S1009S|SYNRG_uc002hoc.3_Silent_p.S1008S|SYNRG_uc002hoe.3_Silent_p.S1009S|SYNRG_uc002hod.3_Silent_p.S964S|SYNRG_uc010wdg.2_Silent_p.S881S|SYNRG_uc002hob.3_Silent_p.S1087S	NM_007247	NP_009178	Q9UMZ2	SYNRG_HUMAN	Homo sapiens synergin, gamma (SYNRG), transcript variant 1, mRNA.	1087					endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						CCAAAGCTGGAGAAGGAGAAG	0.498000														65			46		0	0	1	0	0
USP35	57558	broad.mit.edu	37	11	77921496	77921496	+	Nonsense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:77921496C>A	uc021qny.1	+	9	2951	c.2595C>A	c.(2593-2595)tgC>tgA	p.C865*	USP35_uc001oze.2_Nonsense_Mutation_p.C621*|USP35_uc001ozc.3_Nonsense_Mutation_p.C433*|USP35_uc010rsp.2_Nonsense_Mutation_p.C297*|USP35_uc001ozd.3_Nonsense_Mutation_p.C476*|USP35_uc001ozf.3_Nonsense_Mutation_p.C596*	NM_020798	NP_065849	Q9P2H5	UBP35_HUMAN	Homo sapiens ubiquitin specific peptidase 35 (USP35), mRNA.	865					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			ACTACTACTGCTATGCCCGTG	0.627000														144			11		1.08611e-07	1.25606e-07	1	1	0
PPIL6	285755	broad.mit.edu	37	6	109748356	109748356	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:109748356C>A	uc010kdp.3	-	3	1005	c.424G>T	c.(424-426)Gat>Tat	p.D142Y	PPIL6_uc003ptg.4_Missense_Mutation_p.D142Y|PPIL6_uc021zdq.1_Non-coding_Transcript	NM_001111298	NP_001104768	Q8IXY8	PPIL6_HUMAN	Homo sapiens peptidylprolyl isomerase (cyclophilin)-like 6 (PPIL6), transcript variant 2, mRNA.	142					protein folding		peptidyl-prolyl cis-trans isomerase activity			large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6		all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548)		Epithelial(106;0.00684)|BRCA - Breast invasive adenocarcinoma(108;0.00889)|all cancers(137;0.0106)|OV - Ovarian serous cystadenocarcinoma(136;0.0259)		AACACGAAATCATGCTGTGAA	0.318000														33			9		0.361761	0.362901	1	1	0
GRK1	6011	broad.mit.edu	37	13	114325904	114325904	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:114325904G>A	uc010tkf.2	+	2	1023	c.918G>A	c.(916-918)gaG>gaA	p.E306E		NM_002929	NP_002920	Q15835	RK_HUMAN	Homo sapiens G protein-coupled receptor kinase 1 (GRK1), mRNA.	306	Protein kinase.				regulation of G-protein coupled receptor protein signaling pathway|rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway	membrane	ATP binding|G-protein coupled receptor kinase activity|rhodopsin kinase activity|signal transducer activity			ovary(2)	2	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839)	all cancers(43;0.234)			GCGGCCTGGAGCACCTGCACC	0.602000														15			10		0	0	1	0	0
ARRB2	409	broad.mit.edu	37	17	4624310	4624310	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:4624310C>T	uc010vsg.2	+	14	1497	c.1269C>T	c.(1267-1269)gaC>gaT	p.D423D	ARRB2_uc002fyj.3_Silent_p.D402D|ARRB2_uc002fyk.3_Silent_p.D387D|ARRB2_uc002fyl.3_Silent_p.D414D|ARRB2_uc002fym.3_Silent_p.D399D|ARRB2_uc002fyn.3_Silent_p.D210D	NM_004313	NP_004304	P32121	ARRB2_HUMAN	Homo sapiens arrestin, beta 2 (ARRB2), transcript variant 1, mRNA.	402					G-protein coupled receptor internalization|cell chemotaxis|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|negative regulation of NF-kappaB transcription factor activity|negative regulation of natural killer cell mediated cytotoxicity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway	coated pit|cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	angiotensin receptor binding|ubiquitin protein ligase binding			large_intestine(1)|liver(2)|lung(3)|prostate(1)	7						TGAAGGATGACGACTATGATG	0.542000														62			29		0	0	1	0	0
SEMA4F	10505	broad.mit.edu	37	2	74902971	74902971	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:74902971G>T	uc002sna.1	+	11	1689	c.1578G>T	c.(1576-1578)caG>caT	p.Q526H	SEMA4F_uc010ffq.1_Missense_Mutation_p.Q493H|SEMA4F_uc010ffr.1_Missense_Mutation_p.Q138H|SEMA4F_uc002snb.1_Missense_Mutation_p.Q138H|SEMA4F_uc002snc.1_Missense_Mutation_p.Q371H	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.	526	PSI.				cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity			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						TCCTGGCCCAGGACCCAGTCT	0.587000														33			22		1.55795e-14	1.95195e-14	1	1	0
NES	10763	broad.mit.edu	37	1	156642898	156642898	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:156642898G>T	uc001fpq.3	-	3	1215	c.1082C>A	c.(1081-1083)cCt>cAt	p.P361H	NES_uc021pbh.1_5'Flank	NM_006617	NP_006608	P48681	NEST_HUMAN	Homo sapiens nestin (NES), mRNA.	361	Tail.				G2/M transition of mitotic cell cycle|brain development|embryonic camera-type eye development|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AAGGGTAGCAGGCAAGGGTGA	0.612000														75			7		2.0095e-06	2.27092e-06	1	1	0
WEE2	494551	broad.mit.edu	37	7	141420793	141420793	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:141420793G>A	uc003vwn.2	+	4	1223	c.817G>A	c.(817-819)Gta>Ata	p.V273I	FLJ40852_uc011krh.1_Intron|FLJ40852_uc010lnm.2_Intron|FLJ40852_uc010lnn.2_Intron|FLJ40852_uc003vwm.3_Intron|FLJ40852_uc010lno.2_Intron	NM_001105558	NP_001099028	P0C1S8	WEE2_HUMAN	Homo sapiens WEE1 homolog 2 (S. pombe) (WEE2), mRNA.	273	Protein kinase.				egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I	centrosome|nucleus	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31	Melanoma(164;0.0171)					CCCCCATGTGGTACGTTACTA	0.408000														77			89		0	0	1	0	0
CDK7	1022	broad.mit.edu	37	5	68550442	68550442	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:68550442C>T	uc003jvs.4	+	3	355	c.174C>T	c.(172-174)acC>acT	p.T58T	CDK7_uc010ixd.1_Silent_p.T58T|CDK7_uc021xzo.1_Silent_p.T58T|CDK7_uc003jvt.4_Silent_p.T17T	NM_001799	NP_001790	P50613	CDK7_HUMAN	Homo sapiens cyclin-dependent kinase 7 (CDK7), mRNA.	58	Protein kinase.				G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|S phase of mitotic cell cycle|androgen receptor signaling pathway|cell division|cell proliferation|mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|regulation of cyclin-dependent protein kinase activity|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex|mitochondrion	ATP binding|DNA-dependent ATPase activity|RNA polymerase II carboxy-terminal domain kinase activity|androgen receptor binding|cyclin-dependent protein kinase activity|protein C-terminus binding|transcription coactivator activity			endometrium(1)|lung(2)	3		Lung NSC(167;7.26e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.98e-56)|Epithelial(20;3.54e-52)|all cancers(19;9.11e-48)|Lung(70;0.0185)		TAAATAGAACCGCCTTAAGAG	0.308000								Nucleotide excision repair (NER)						48			13		0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103234855	103234855	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:103234855G>T	uc022ajr.1	-	25	3784	c.3624C>A	c.(3622-3624)gaC>gaA	p.D1208E	RELN_uc022ajq.1_Missense_Mutation_p.D1208E|RELN_uc010liz.3_Missense_Mutation_p.D1208E	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	1208					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		ACTGGTCATAGTCCTCCCCTG	0.493000														98			170		1.0846e-72	1.44773e-72	1	1	0
ST14	6768	broad.mit.edu	37	11	130079624	130079624	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:130079624G>A	uc001qfw.3	+	18	2667	c.2474G>A	c.(2473-2475)aGc>aAc	p.S825N		NM_021978	NP_068813	Q9Y5Y6	ST14_HUMAN	Homo sapiens suppression of tumorigenicity 14 (colon carcinoma) (ST14), mRNA.	825	Peptidase S1.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	GGTGTGGTGAGCTGGGGAGAC	0.647000														42			29		0	0	1	0	0
SCAP	22937	broad.mit.edu	37	3	47460853	47460853	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:47460853C>T	uc003crh.1	-	12	2160	c.1905G>A	c.(1903-1905)acG>acA	p.T635T	SCAP_uc011baz.1_Silent_p.T380T|SCAP_uc003crg.2_Silent_p.T243T	NM_012235	NP_036367	Q12770	SCAP_HUMAN	Homo sapiens SREBF chaperone (SCAP), mRNA.	635					cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	ER to Golgi transport vesicle membrane|Golgi membrane|endoplasmic reticulum membrane|integral to membrane	unfolded protein binding	p.P634T(1)		endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		AGCTGAAGAGCGTCGGCCAGT	0.577000														25			11		0	0	1	0	0
BAZ1A	11177	broad.mit.edu	37	14	35234240	35234240	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:35234240C>T	uc001wsk.3	-	21	4104	c.3536G>A	c.(3535-3537)cGa>cAa	p.R1179Q	BAZ1A_uc001wsl.3_Missense_Mutation_p.R1147Q	NM_013448	NP_038476	Q9NRL2	BAZ1A_HUMAN	Homo sapiens bromodomain adjacent to zinc finger domain, 1A (BAZ1A), transcript variant 1, mRNA.	1179					chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ACF complex	zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	Breast(36;0.0388)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)		GAGCTTTGGTCGAACACAGTA	0.358000														39			23		0	0	1	0	0
ANKRD11	29123	broad.mit.edu	37	16	89349882	89349882	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:89349882G>A	uc002fmx.1	-	8	3529	c.3068C>T	c.(3067-3069)aCa>aTa	p.T1023I	ANKRD11_uc002fmy.1_Missense_Mutation_p.T1023I|ANKRD11_uc002fnc.1_Missense_Mutation_p.T1023I|ANKRD11_uc002fnb.1_Missense_Mutation_p.T980I	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	Homo sapiens ankyrin repeat domain 11 (ANKRD11), transcript variant 2, mRNA.	1023	Lys-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TTCTGGTTTTGTCTTCTCCTT	0.463000														70			61		0	0	1	0	0
ARHGAP20	57569	broad.mit.edu	37	11	110451054	110451054	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:110451054G>T	uc001pkz.1	-	15	2901	c.2616C>A	c.(2614-2616)agC>agA	p.S872R	ARHGAP20_uc001pky.1_Missense_Mutation_p.S849R|ARHGAP20_uc009yyb.1_Missense_Mutation_p.S836R|ARHGAP20_uc001pla.1_Missense_Mutation_p.S836R|ARHGAP20_uc001plb.2_Missense_Mutation_p.S415R	NM_020809	NP_065860	Q9P2F6	RHG20_HUMAN	Homo sapiens Rho GTPase activating protein 20 (ARHGAP20), mRNA.	872					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		CAGCTTCACAGCTGGTTTTAT	0.463000														117			9		3.09899e-07	3.55757e-07	1	1	0
MPL	4352	broad.mit.edu	37	1	43804212	43804212	+	Splice_Site	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:43804212G>T	uc001ciw.3	+	3	258	c.213_splice	c.e3-1	p.R71_splice	MPL_uc001civ.3_Splice_Site_p.R71_splice|MPL_uc009vwr.3_Splice_Site_p.R64_splice	NM_005373	NP_005364	P40238	TPOR_HUMAN	Homo sapiens myeloproliferative leukemia virus oncogene (MPL), mRNA.	71					cell proliferation|platelet activation	integral to plasma membrane	cytokine receptor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(551)|large_intestine(3)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	567	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TATGCCAACAGGGAGAAGCCC	0.587000			Mis		MPD	MPD	congenital amegakaryocytic thrombocytopenia							34			9		0.00621372	0.00645399	1	1	0
VPS13C	54832	broad.mit.edu	37	15	62277144	62277144	+	Nonsense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:62277144C>A	uc002agz.3	-	18	1724	c.1633G>T	c.(1633-1635)Gaa>Taa	p.E545*	VPS13C_uc002aha.3_Nonsense_Mutation_p.E502*|VPS13C_uc002ahb.2_Nonsense_Mutation_p.E545*|VPS13C_uc002ahc.2_Nonsense_Mutation_p.E502*	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog C (S. cerevisiae) (VPS13C), transcript variant 2A, mRNA.	545					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TTCTTGTTTTCTCTTATCGTA	0.323000														51			6		1.12685e-05	1.25391e-05	1	1	0
FAM175A	84142	broad.mit.edu	37	4	84383808	84383808	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:84383808G>T	uc003hou.2	-	8	1109	c.1044C>A	c.(1042-1044)gcC>gcA	p.A348A	FAM175A_uc003hot.2_Silent_p.A176A|FAM175A_uc003hov.2_Silent_p.A239A	NM_139076	NP_620775	Q6UWZ7	F175A_HUMAN	Homo sapiens family with sequence similarity 175, member A (FAM175A), mRNA.	348			A -> T (common polymorphism not associated with susceptibility to breast cancer; dbSNP:rs12642536).		G2/M transition DNA damage checkpoint|chromatin modification|double-strand break repair|positive regulation of DNA repair|response to ionizing radiation	BRCA1-A complex	polyubiquitin binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	13						CTAAGTCTAAGGCTTTATGCT	0.393000														152			10		7.48243e-07	8.52591e-07	1	1	0
THOC2	57187	broad.mit.edu	37	X	122757749	122757749	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:122757749A>C	uc004etu.3	-	27	3424	c.3392T>G	c.(3391-3393)cTt>cGt	p.L1131R	THOC2_uc010nqt.1_5'Flank|THOC2_uc004etw.1_5'Flank	NM_001081550	NP_001075019	Q8NI27	THOC2_HUMAN	Homo sapiens THO complex 2 (THOC2), mRNA.	1131					RNA splicing|intronless viral mRNA export from host nucleus|mRNA processing	THO complex part of transcription export complex	RNA binding|protein binding			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						GTACCAAGGAAGTATTTTTGT	0.378000														104			13		0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10467277	10467277	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:10467277G>A	uc003wtc.3	-	3	4560	c.4331C>T	c.(4330-4332)gCa>gTa	p.A1444V		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	1444					intracellular signal transduction			p.P1443P(1)		breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TGTGCCCTCTGCGGGGCACGG	0.632000														192			17		0	0	1	0	0
EIF3A	8661	broad.mit.edu	37	10	120819204	120819204	+	Silent	SNP	C	T	T	rs61729177		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:120819204C>T	uc001ldu.3	-	9	1499	c.1353G>A	c.(1351-1353)gaG>gaA	p.E451E	EIF3A_uc010qsu.2_Silent_p.E417E	NM_003750	NP_003741	Q14152	EIF3A_HUMAN	Homo sapiens eukaryotic translation initiation factor 3, subunit A (EIF3A), mRNA.	451	PCI.				formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity			endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		AACGAGAAAACTCAATGCTCT	0.418000														37			23		0	0	1	0	0
GPR132	29933	broad.mit.edu	37	14	105517471	105517471	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:105517471C>T	uc001yqd.3	-	3	1902	c.1003G>A	c.(1003-1005)Gtc>Atc	p.V335I	GPR132_uc001yqc.3_Missense_Mutation_p.V147I|GPR132_uc001yqe.3_Missense_Mutation_p.V326I	NM_013345	NP_037477	Q9UNW8	GP132_HUMAN	Homo sapiens G protein-coupled receptor 132 (GPR132), mRNA.	335					response to stress	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	18		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)		AGCCTGGTGACGTCTGTCTTC	0.612000														32			17		0	0	1	0	0
CBX4	8535	broad.mit.edu	37	17	77808500	77808500	+	Missense_Mutation	SNP	G	A	A	rs140935310	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:77808500G>A	uc002jxe.3	-	4	1104	c.941C>T	c.(940-942)gCg>gTg	p.A314V		NM_003655	NP_003646	O00257	CBX4_HUMAN	Homo sapiens chromobox homolog 4 (CBX4), mRNA.	314	Interaction with BMI1.				anti-apoptosis|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|PcG protein complex	enzyme binding|transcription corepressor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			CTCTGCGCCCGCCGCCTTTTT	0.692000											OREG0024799	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		19			22		0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57573202	57573202	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57573202C>T	uc001snd.3	+	28	5295	c.4829C>T	c.(4828-4830)aCg>aTg	p.T1610M		NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	1610					aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	ATCTCCTTCACGGTGCCCGAC	0.567000														17			15		0	0	1	0	0
SORCS1	114815	broad.mit.edu	37	10	108357111	108357111	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:108357111G>A	uc001kyl.3	-	23	3445	c.3263C>T	c.(3262-3264)gCg>gTg	p.A1088V	SORCS1_uc021pxw.1_Missense_Mutation_p.A1088V|SORCS1_uc009xxs.3_Missense_Mutation_p.A1088V|SORCS1_uc001kym.3_Missense_Mutation_p.A1088V|SORCS1_uc001kyn.2_Missense_Mutation_p.A1088V|SORCS1_uc001kyo.3_Missense_Mutation_p.A1088V	NM_001013031	NP_001013049	Q8WY21	SORC1_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 1 (SORCS1), transcript variant 2, mRNA.	1088						integral to membrane	neuropeptide receptor activity|protein binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		ACACTGACCCGCTGTTAAGTG	0.517000														27			5		0	0	1	0	0
UBXN6	80700	broad.mit.edu	37	19	4452490	4452490	+	Splice_Site	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:4452490C>A	uc002man.2	-	4	410	c.313_splice	c.e4-1	p.V105_splice	UBXN6_uc002mam.2_Splice_Site_p.V52_splice	NM_025241	NP_079517	Q9BZV1	UBXN6_HUMAN	Homo sapiens UBX domain protein 6 (UBXN6), transcript variant 1, mRNA.	105						microtubule organizing center|nucleus	protein binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	12						GCTCAGATACCTGGGGCGGTG	0.647000														10			6		0.00198382	0.00208369	1	1	0
FGF13	2258	broad.mit.edu	37	X	137939758	137939758	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:137939758C>T	uc004faq.3	-	1	309	c.133G>A	c.(133-135)Gag>Aag	p.E45K	FGF13_uc011mwi.2_Missense_Mutation_p.E16K|FGF13_uc004far.3_Missense_Mutation_p.E16K|FGF13_uc011mwj.2_Missense_Mutation_p.E45K|FGF13_uc011mwk.2_Intron	NM_001139502	NP_001132974	Q92913	FGF13_HUMAN	Homo sapiens fibroblast growth factor 13 (FGF13), transcript variant 5, mRNA.	0					MAPKKK cascade|cell-cell signaling|nervous system development	cytoplasm|nucleus	growth factor activity|protein kinase activator activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	24	Acute lymphoblastic leukemia(192;0.000127)					AAGGGGGACTCTTTTTTCTTT	0.483000														84			10		0	0	1	0	0
CNOT7	29883	broad.mit.edu	37	8	17102653	17102653	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:17102653C>T	uc003wxf.1	-	1	177	c.9G>A	c.(7-9)gcG>gcA	p.A3A	CNOT7_uc003wxg.1_Silent_p.A3A|CNOT7_uc003wxh.1_Silent_p.A3A|CNOT7_uc003wxi.1_Silent_p.A3A|VPS37A_uc003wxj.3_5'Flank|VPS37A_uc003wxk.3_5'Flank	NM_013354	NP_037486	Q9UIV1	CNOT7_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 7 (CNOT7), transcript variant 1, mRNA.	3					carbohydrate metabolic process|nuclear-transcribed mRNA poly(A) tail shortening	CCR4-NOT complex|cytoplasmic mRNA processing body|cytosol	nucleic acid binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)	11				Colorectal(111;0.0523)|COAD - Colon adenocarcinoma(73;0.209)		CTACAGTTGCCGCTGGCATAG	0.353000														37			15		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13737379	13737379	+	Missense_Mutation	SNP	G	A	A	rs140948493	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:13737379G>A	uc003jfd.2	-	65	11479	c.11437C>T	c.(11437-11439)Cgg>Tgg	p.R3813W	DNAH5_uc003jfc.2_Intron	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3813					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.R3813Q(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TATTCCTCCCGGGCTGAGTTA	0.423000									Kartagener syndrome					79			56		0	0	1	0	0
ETFDH	2110	broad.mit.edu	37	4	159606352	159606352	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:159606352C>A	uc003iqb.3	+	4	919	c.587C>A	c.(586-588)cCt>cAt	p.P196H	ETFDH_uc011cjg.2_Missense_Mutation_p.P149H|ETFDH_uc010iqr.3_Intron|ETFDH_uc011cjh.2_Missense_Mutation_p.P135H|ETFDH_uc010iqs.3_Missense_Mutation_p.P118H	NM_004453	NP_004444	Q16134	ETFD_HUMAN	Homo sapiens electron-transferring-flavoprotein dehydrogenase (ETFDH), nuclear gene encoding mitochondrial protein, mRNA.	196					fatty acid beta-oxidation using acyl-CoA dehydrogenase|respiratory electron transport chain|response to oxidative stress|transport	integral to mitochondrial inner membrane|mitochondrial matrix	4 iron, 4 sulfur cluster binding|electron carrier activity|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding|metal ion binding|oxidoreductase activity, oxidizing metal ions with flavin as acceptor|ubiquinone binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|prostate(1)|skin(3)	28	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0172)		GAAGTATACCCTGGTTATGCA	0.368000														109			7		0.000157383	0.000170012	1	1	0
MFN1	55669	broad.mit.edu	37	3	179082095	179082095	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:179082095G>T	uc003fjt.3	+	4	638	c.631G>T	c.(631-633)Gat>Tat	p.D211Y	MFN1_uc003fjs.3_Missense_Mutation_p.D183Y|MFN1_uc010hxb.3_Non-coding_Transcript|MFN1_uc010hxc.3_Missense_Mutation_p.D36Y	NM_033540	NP_284941	Q8IWA4	MFN1_HUMAN	Homo sapiens mitofusin 1 (MFN1), nuclear gene encoding mitochondrial protein, mRNA.	183					mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			TCCAGGCACAGATGTCACTAC	0.323000														42			16		0.00400662	0.00419118	1	1	0
CSMD2	114784	broad.mit.edu	37	1	34238175	34238175	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:34238175C>T	uc001bxm.1	-	12	2018	c.1841G>A	c.(1840-1842)tGc>tAc	p.C614Y	CSMD2_uc001bxn.1_Missense_Mutation_p.C574Y	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	574	CUB 4.					integral to membrane|plasma membrane	protein binding	p.E613*(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CTTACACACGCAGCCTGGCTT	0.582000														61			5		0	0	1	0	0
ABCC12	94160	broad.mit.edu	37	16	48120658	48120658	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:48120658T>C	uc002efc.1	-	25	4054	c.3708A>G	c.(3706-3708)agA>agG	p.R1236R	ABCC12_uc002eey.1_Non-coding_Transcript|ABCC12_uc002eez.1_Intron|ABCC12_uc002efa.1_Intron|ABCC12_uc002efb.1_Non-coding_Transcript|ABCC12_uc002efd.1_Intron	NM_033226	NP_150229	Q96J65	MRP9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 12 (ABCC12), mRNA.	1236	ABC transporter 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				CTACTGTGTCTCTCATGAATG	0.507000														121			14		0	0	1	0	0
MYO15A	51168	broad.mit.edu	37	17	18023071	18023071	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:18023071G>A	uc021trm.1	+	0	1176	c.957G>A	c.(955-957)ccG>ccA	p.P319P	MYO15A_uc021trl.1_Silent_p.P319P	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	Homo sapiens myosin XVA (MYO15A), mRNA.	319	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	ATP binding|actin binding|calmodulin binding|motor activity	p.P318H(1)		breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					ATGCGCCCCCGTCGGGGTACT	0.607000														61			5		0	0	1	0	0
EVI2A	2123	broad.mit.edu	37	17	29645983	29645983	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:29645983G>T	uc002hgl.3	-	2	455	c.118C>A	c.(118-120)Ctg>Atg	p.L40M	NF1_uc002hgg.3_Intron|NF1_uc002hgh.3_Intron|NF1_uc002hgi.1_Intron|NF1_uc010cso.3_Intron|EVI2A_uc002hgm.3_Missense_Mutation_p.L17M|EVI2A_uc021tul.1_Missense_Mutation_p.L17M	NM_001003927	NP_055025	P22794	EVI2A_HUMAN	Homo sapiens ecotropic viral integration site 2A (EVI2A), transcript variant 1, mRNA.	17						integral to membrane	transmembrane receptor activity	p.0?(8)|p.?(3)|p.F39L(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	14		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;5.94e-13)|Epithelial(4;7.98e-12)|OV - Ovarian serous cystadenocarcinoma(4;9.4e-12)|GBM - Glioblastoma multiforme(4;0.18)		GTTGTCATCAGAAAGGCAAGA	0.398000														172			75		1.15413e-51	1.53851e-51	1	1	0
CUL5	8065	broad.mit.edu	37	11	107965640	107965640	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:107965640G>A	uc001pjv.3	+	14	2336	c.1669G>A	c.(1669-1671)Gaa>Aaa	p.E557K	CUL5_uc001pju.3_Non-coding_Transcript	NM_003478	NP_003469	Q93034	CUL5_HUMAN	Homo sapiens cullin 5 (CUL5), mRNA.	557					G1/S transition of mitotic cell cycle|cell cycle arrest|cell proliferation|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process|viral reproduction	cullin-RING ubiquitin ligase complex|cytosol	calcium channel activity|receptor activity|ubiquitin protein ligase binding			endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217)		CTTGATACCGGAAGTAGAAGA	0.348000														43			37		0	0	1	0	0
KIAA0226	9711	broad.mit.edu	37	3	197444963	197444963	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:197444963G>A	uc003fyc.2	-	1	287	c.104C>T	c.(103-105)aCg>aTg	p.T35M	KIAA0226_uc003fyd.3_5'UTR|KIAA0226_uc003fyf.3_Intron|KIAA0226_uc003fyg.3_Missense_Mutation_p.T28M	NM_014687	NP_055502	Q92622	RUBIC_HUMAN	Homo sapiens KIAA0226 (KIAA0226), transcript variant 2, mRNA.	35					autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding			NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		ACCCTCCACCGTCGTCTTCAA	0.512000														23			28		0	0	1	0	0
ODZ3	55714	broad.mit.edu	37	4	183721441	183721441	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:183721441C>T	uc003ivd.1	+	26	8112	c.8037C>T	c.(8035-8037)ccC>ccT	p.P2679P		NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	2679					signal transduction	integral to membrane				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		AGCAGTACCCCGAGCTGGCCG	0.706000														10			3		0	0	1	0	0
POU3F4	5456	broad.mit.edu	37	X	82763476	82763476	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:82763476C>T	uc004eeg.2	+	0	208	c.144C>T	c.(142-144)agC>agT	p.S48S		NM_000307	NP_000298	P49335	PO3F4_HUMAN	Homo sapiens POU class 3 homeobox 4 (POU3F4), mRNA.	48					sensory perception of sound	nucleus	sequence-specific DNA binding transcription factor activity	p.P47T(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	37						GAGTTCCCAGCAATGGGCATC	0.622000														10			7		0	0	1	0	0
AIFM1	9131	broad.mit.edu	37	X	129290550	129290550	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:129290550G>T	uc004evg.3	-	1	365	c.134C>A	c.(133-135)cCt>cAt	p.P45H	AIFM1_uc011mus.2_Missense_Mutation_p.P45H|AIFM1_uc004evh.3_Intron|AIFM1_uc004evi.3_Intron|AIFM1_uc004evk.3_Intron	NM_004208	NP_004199	O95831	AIFM1_HUMAN	Homo sapiens apoptosis-inducing factor, mitochondrion-associated, 1 (AIFM1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	45					DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change|activation of caspase activity|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis	cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|nucleus|perinuclear region of cytoplasm	DNA binding|electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity|protein binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(4)|prostate(2)|urinary_tract(1)	30						GAGTTCTAGAGGAACATGCCA	0.358000														222			14		1.02788e-11	1.25893e-11	1	1	0
GIMAP1-GIMAP5	100527949	broad.mit.edu	37	7	150417359	150417359	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:150417359C>T	uc003whq.3	+	2	407	c.267C>T	c.(265-267)tcC>tcT	p.S89S	GIMAP1-GIMAP5_uc022apw.1_Silent_p.S89S	NM_130759	NP_570115			Homo sapiens GTPase, IMAP family member 1 (GIMAP1), mRNA.																		TTTTCAGCTCCCAAGTGTCCA	0.652000														52			17		0	0	1	0	0
ATP10D	57205	broad.mit.edu	37	4	47548731	47548731	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:47548731C>T	uc003gxk.1	+	9	1651	c.1487C>T	c.(1486-1488)cCg>cTg	p.P496L	ATP10D_uc003gxl.1_5'UTR|ATP10D_uc003gxj.3_Missense_Mutation_p.P481L	NM_020453	NP_065186	Q9P241	AT10D_HUMAN	Homo sapiens ATPase, class V, type 10D (ATP10D), mRNA.	496					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						ATGGCAAAACCGAGAGCCCCC	0.483000														64			37		0	0	1	0	0
GRB7	2886	broad.mit.edu	37	17	37902408	37902408	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:37902408C>T	uc002hsr.3	+	13	1680	c.1405C>T	c.(1405-1407)Ctc>Ttc	p.L469F	GRB7_uc002hss.3_Missense_Mutation_p.L469F|GRB7_uc021twu.1_Missense_Mutation_p.L492F|GRB7_uc010cwc.3_Missense_Mutation_p.L469F|GRB7_uc002hst.3_Silent_p.S439S	NM_005310	NP_005301	Q14451	GRB7_HUMAN	Homo sapiens growth factor receptor-bound protein 7 (GRB7), transcript variant 1, mRNA.	469	SH2.				blood coagulation|epidermal growth factor receptor signaling pathway|leukocyte migration|negative regulation of translation|positive regulation of cell migration|stress granule assembly	cytosol|focal adhesion|stress granule	SH3/SH2 adaptor activity|phosphatidylinositol binding|protein kinase binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			GGGCTTTGTCCTCTCTTTGTG	0.587000														89			62		0	0	1	0	0
FAM208B	54906	broad.mit.edu	37	10	5791086	5791086	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:5791086C>T	uc001iij.3	+	14	6327	c.5702C>T	c.(5701-5703)gCg>gTg	p.A1901V	FAM208B_uc001iik.3_Missense_Mutation_p.A745V	NM_017782	NP_060252	Q5VWN6	CJ018_HUMAN	Homo sapiens family with sequence similarity 208, member B (FAM208B), mRNA.	1901																	TGGACTGCTGCGGTAAAGAAA	0.537000														13			8		0	0	1	0	0
SP8	221833	broad.mit.edu	37	7	20824833	20824833	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:20824833G>A	uc003suz.3	-	1	694	c.603C>T	c.(601-603)caC>caT	p.H201H	SP8_uc003suy.3_Silent_p.H183H|SP8_uc022aak.1_Silent_p.H183H	NM_182700	NP_945194	Q8IXZ3	SP8_HUMAN	Homo sapiens Sp8 transcription factor (SP8), transcript variant 1, mRNA.	183					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	8						ACTCGTACGGGTGCGCCATGC	0.716000														10			3		0	0	1	0	0
FAM75E1	286234	broad.mit.edu	37	9	90503722	90503722	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:90503722G>T	uc004app.4	+	3	4355	c.4320G>T	c.(4318-4320)caG>caT	p.Q1440H		NM_178828	NP_849150	Q6ZUB1	CI079_HUMAN	Homo sapiens chromosome 9 open reading frame 79 (C9orf79), mRNA.	1440						integral to membrane											TGTCTGCACAGAGGTGTCTTG	0.567000														22			8		0.0381472	0.0388409	1	1	0
TFIP11	24144	broad.mit.edu	37	22	26892165	26892165	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:26892165A>G	uc003acr.2	-	10	2097	c.1723T>C	c.(1723-1725)Tcc>Ccc	p.S575P	TFIP11_uc003acq.2_5'Flank|TFIP11_uc003acs.2_Missense_Mutation_p.S575P|TFIP11_uc003act.2_Missense_Mutation_p.S575P	NM_012143	NP_036275	Q9UBB9	TFP11_HUMAN	Homo sapiens tuftelin interacting protein 11 (TFIP11), transcript variant 2, mRNA.	575					biomineral tissue development	catalytic step 2 spliceosome|cytoplasm|nuclear speck	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25						AGGGCGCTGGACAGCTTACTA	0.592000														43			23		0	0	1	0	0
ULK2	9706	broad.mit.edu	37	17	19750088	19750088	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:19750088C>T	uc002gwm.4	-	5	940	c.431G>A	c.(430-432)cGc>cAc	p.R144H	ULK2_uc002gwn.3_Missense_Mutation_p.R144H|U6_uc021tse.1_5'Flank	NM_001142610	NP_055498	Q8IYT8	ULK2_HUMAN	Homo sapiens unc-51-like kinase 2 (C. elegans) (ULK2), transcript variant 2, mRNA.	144	Protein kinase.				signal transduction		ATP binding|protein binding|protein serine/threonine kinase activity			large_intestine(1)|skin(4)|stomach(1)	6	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)					TGATTTTCTGCGATTGGCATA	0.403000														154			94		0	0	1	0	0
MCF2L	23263	broad.mit.edu	37	13	113743999	113743999	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:113743999C>T	uc001vsu.3	+	25	3081	c.3081C>T	c.(3079-3081)taC>taT	p.Y1027Y	MCF2L_uc001vsq.3_Silent_p.Y1027Y|MCF2L_uc010tjr.2_Silent_p.Y970Y|MCF2L_uc001vsr.3_Silent_p.Y974Y|MCF2L_uc001vss.4_Silent_p.Y968Y|MCF2L_uc010tjs.2_Silent_p.Y968Y	NM_024979	NP_079255	O15068	MCF2L_HUMAN	Homo sapiens MCF.2 cell line derived transforming sequence-like (MCF2L), transcript variant 2, mRNA.	1000					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				TGGAGGGATACGTCAGCTCAG	0.547000														26			5		0	0	1	0	0
MCM10	55388	broad.mit.edu	37	10	13230881	13230881	+	Splice_Site	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:13230881C>T	uc001ima.3	+	10	1347	c.1219_splice	c.e10-1	p.R407_splice	MCM10_uc001imb.3_Splice_Site_p.R406_splice|MCM10_uc001imc.3_Splice_Site_p.R406_splice	NM_182751	NP_877428	Q7L590	MCM10_HUMAN	Homo sapiens minichromosome maintenance complex component 10 (MCM10), transcript variant 1, mRNA.	407	Zinc finger-like.				DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|cell cycle checkpoint	nucleoplasm	metal ion binding|protein binding			central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						CCTTTTGCAGCGTGACTGTGA	0.557000														93			43		0	0	1	0	0
TRPV3	162514	broad.mit.edu	37	17	3436060	3436060	+	Missense_Mutation	SNP	C	T	T	rs151284467		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:3436060C>T	uc002fvr.2	-	7	1278	c.956G>A	c.(955-957)cGc>cAc	p.R319H	TRPV3_uc002fvs.1_Non-coding_Transcript|TRPV3_uc010vrh.1_Missense_Mutation_p.R303H|TRPV3_uc010vri.1_Missense_Mutation_p.R274H|TRPV3_uc010vrk.1_Non-coding_Transcript|TRPV3_uc002fvt.1_Missense_Mutation_p.R319H|TRPV3_uc010vrj.1_Missense_Mutation_p.R303H|TRPV3_uc010vrm.1_Non-coding_Transcript|TRPV3_uc010vrl.1_Missense_Mutation_p.R303H|TRPV3_uc002fvu.3_Missense_Mutation_p.R319H|TRPV3_uc010vrn.1_5'Flank	NM_145068	NP_659505	Q8NET8	TRPV3_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 3 (TRPV3), mRNA.	319						integral to membrane	calcium channel activity	p.R319H(2)		breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35					Menthol(DB00825)	GTCGTACATGCGCTTCACAAA	0.602000														19			8		0	0	1	0	0
SAR1A	56681	broad.mit.edu	37	10	71920819	71920819	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:71920819T>C	uc010qjh.2	-	4	388	c.185A>G	c.(184-186)gAa>gGa	p.E62G	SAR1A_uc010qji.2_Missense_Mutation_p.E62G|SAR1A_uc010qjj.2_Missense_Mutation_p.E19G	NM_001142648	NP_064535	Q9NR31	SAR1A_HUMAN	Homo sapiens SAR1 homolog A (S. cerevisiae) (SAR1A), transcript variant 1, mRNA.	62					ER to Golgi vesicle-mediated transport|intracellular protein transport	Golgi apparatus	GTP binding|GTPase activity	p.S61L(1)		NS(1)|endometrium(1)|large_intestine(1)|lung(3)	6						TGTTAGCTCTTCTGATGCTGA	0.358000														167			12		0	0	1	0	0
USP28	57646	broad.mit.edu	37	11	113673879	113673879	+	Splice_Site	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:113673879C>A	uc001poh.3	-	23	2895	c.2862_splice	c.e23+1	p.L954_splice	USP28_uc001pog.3_Splice_Site_p.L630_splice|USP28_uc010rwy.2_Splice_Site_p.L797_splice|USP28_uc001poi.3_Splice_Site_p.L277_splice	NM_020886	NP_065937	Q96RU2	UBP28_HUMAN	Homo sapiens ubiquitin specific peptidase 28 (USP28), mRNA.	954					DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|cell proliferation|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		ACAGTACAAACCAGAAGGCAT	0.458000														87			25		6.32553e-13	7.83728e-13	1	1	0
C12orf51	283450	broad.mit.edu	37	12	112697032	112697032	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:112697032G>A	uc021reb.1	-	18	2875	c.2479C>T	c.(2479-2481)Ctt>Ttt	p.L827F	C12orf51_uc010syk.1_Missense_Mutation_p.L362F|C12orf51_uc001tts.2_Missense_Mutation_p.L362F|C12orf51_uc001ttt.3_Missense_Mutation_p.L360F	NM_001109662	NP_001103132			Homo sapiens chromosome 12 open reading frame 51 (C12orf51), mRNA.											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(6)|large_intestine(16)|lung(49)|ovary(4)|prostate(1)|urinary_tract(6)	100						AGGTGACCAAGCATAGTAGCC	0.443000														57			5		0	0	1	0	0
MMAB	326625	broad.mit.edu	37	12	110002938	110002938	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:110002938C>T	uc001tou.3	-	3	407	c.334G>A	c.(334-336)Gaa>Aaa	p.E112K	MMAB_uc001tov.3_Non-coding_Transcript|MMAB_uc010sxq.2_Missense_Mutation_p.E21K	NM_052845	NP_443077	Q96EY8	MMAB_HUMAN	Homo sapiens methylmalonic aciduria (cobalamin deficiency) cblB type (MMAB), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	112					cobalamin biosynthetic process	mitochondrion	ATP binding|cob(I)yrinic acid a,c-diamide adenosyltransferase activity			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TGAAGCTCTTCGGCAAATGTA	0.473000														120			61		0	0	1	0	0
MT4	84560	broad.mit.edu	37	16	56602768	56602768	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:56602768G>A	uc002eje.1	+	2	193	c.113G>A	c.(112-114)tGc>tAc	p.C38Y		NM_032935	NP_116324	P47944	MT4_HUMAN	Homo sapiens metallothionein 4 (MT4), mRNA.	38						cytoplasm	copper ion binding|zinc ion binding			ovary(1)|upper_aerodigestive_tract(1)	2						TGTCCCTGCTGCCCCCCGGGC	0.602000														133			66		0	0	1	0	0
CCDC135	84229	broad.mit.edu	37	16	57752284	57752284	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:57752284C>A	uc002emi.3	+	7	1192	c.1103C>A	c.(1102-1104)cCt>cAt	p.P368H	CCDC135_uc002emj.3_Missense_Mutation_p.P368H|CCDC135_uc002emk.3_Missense_Mutation_p.P303H	NM_032269	NP_115645	Q8IY82	CC135_HUMAN	Homo sapiens coiled-coil domain containing 135 (CCDC135), mRNA.	368						cytoplasm				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						CTGGGTGACCCTGTGAGATGG	0.532000														101			55		6.3237e-29	8.32713e-29	1	1	0
NOX3	50508	broad.mit.edu	37	6	155761125	155761125	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:155761125G>A	uc003qqm.3	-	5	736	c.633C>T	c.(631-633)atC>atT	p.I211I		NM_015718	NP_056533	Q9HBY0	NOX3_HUMAN	Homo sapiens NADPH oxidase 3 (NOX3), mRNA.	211	Ferric oxidoreductase.						electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		GAAAGAAGACGATGAAAACAT	0.463000														24			17		0	0	1	0	0
APOL1	8542	broad.mit.edu	37	22	36661287	36661287	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:36661287G>A	uc003ape.3	+	6	727	c.453G>A	c.(451-453)caG>caA	p.Q151Q	APOL1_uc011amn.1_Silent_p.Q12Q|APOL1_uc021wom.1_Non-coding_Transcript|APOL1_uc011amo.2_Silent_p.Q12Q|APOL1_uc003apf.3_Silent_p.Q135Q|APOL1_uc011amp.2_Silent_p.Q135Q|APOL1_uc011amq.2_Silent_p.Q117Q|APOL1_uc010gwx.3_Silent_p.Q12Q	NM_145343	NP_003652	O14791	APOL1_HUMAN	Homo sapiens apolipoprotein L, 1 (APOL1), transcript variant 2, mRNA.	135					cholesterol metabolic process|cytolysis|innate immune response|killing of cells of other organism|lipid transport|lipoprotein metabolic process	high-density lipoprotein particle|very-low-density lipoprotein particle	chloride channel activity|lipid binding|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	14						AAGGCCAGCAGTACAGAAACT	0.473000														42			25		0	0	1	0	0
HSH2D	84941	broad.mit.edu	37	19	16268152	16268152	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:16268152C>T	uc002ndp.4	+	7	1138	c.607C>T	c.(607-609)Ctc>Ttc	p.L203F	HSH2D_uc002ndr.3_Missense_Mutation_p.L146F|HSH2D_uc010ead.3_Non-coding_Transcript	NM_032855	NP_116244	Q96JZ2	HSH2D_HUMAN	Homo sapiens hematopoietic SH2 domain containing (HSH2D), mRNA.	203						cytoplasm|nucleus				central_nervous_system(1)|kidney(1)|large_intestine(2)	4						CCGCCAGAAACTCTGGAGGAG	0.552000														29			18		0	0	1	0	0
WDR88	126248	broad.mit.edu	37	19	33666397	33666397	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:33666397C>T	uc002nui.3	+	10	1416	c.1338C>T	c.(1336-1338)ggC>ggT	p.G446G	TRNA_Thr_uc021usc.1_5'Flank	NM_173479	NP_775750	Q6ZMY6	WDR88_HUMAN	Homo sapiens WD repeat domain 88 (WDR88), mRNA.	446										breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25	Esophageal squamous(110;0.137)					ATACAAGGGGCTTGCCAGCAG	0.517000														45			51		0	0	1	0	0
NOS2	4843	broad.mit.edu	37	17	26110133	26110133	+	Splice_Site	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:26110133C>A	uc002gzu.3	-	6	732	c.468_splice	c.e6-1	p.E156_splice	NOS2_uc010crh.1_Splice_Site_p.E156_splice|NOS2_uc010wab.1_Splice_Site_p.E156_splice	NM_000625	NP_000616	P35228	NOS2_HUMAN	Homo sapiens nitric oxide synthase 2, inducible (NOS2), mRNA.	156					arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	FMN binding|NADP binding|arginine binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	TATTTTTGCCCTGGGGGACAG	0.483000														45			18		1.87028e-06	2.11959e-06	1	1	0
GRAMD1A	57655	broad.mit.edu	37	19	35510153	35510153	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:35510153G>A	uc010xsf.1	+	11	1287	c.1287G>A	c.(1285-1287)acG>acA	p.T429T	GRAMD1A_uc010xse.1_Silent_p.T424T|GRAMD1A_uc002nxk.2_Silent_p.T417T|GRAMD1A_uc002nxl.2_Silent_p.T190T|GRAMD1A_uc002nxn.1_Silent_p.T39T	NM_020895	NP_065946	Q96CP6	GRM1A_HUMAN	Homo sapiens GRAM domain containing 1A (GRAMD1A), transcript variant 1, mRNA.	424						integral to membrane				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			GGGTGCTGACGTACACCATCC	0.682000														25			9		0	0	1	0	0
LOXL2	4017	broad.mit.edu	37	8	23167278	23167278	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:23167278G>A	uc003xdh.1	-	9	2122	c.1783C>T	c.(1783-1785)Cgg>Tgg	p.R595W	LOXL2_uc010lty.1_Missense_Mutation_p.R134W	NM_002318	NP_002309	Q9Y4K0	LOXL2_HUMAN	Homo sapiens lysyl oxidase-like 2 (LOXL2), mRNA.	595	Lysyl-oxidase like.				aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		CGCAGGAGCCGGCGGTAGCCC	0.652000														15			6		0	0	1	0	0
CARD9	64170	broad.mit.edu	37	9	139265507	139265507	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:139265507C>T	uc022bpp.1	-	3	579	c.413G>A	c.(412-414)aGc>aAc	p.S138N	CARD9_uc004chg.3_Missense_Mutation_p.S138N|CARD9_uc022bpo.1_Missense_Mutation_p.S138N|CARD9_uc011mdx.1_Missense_Mutation_p.S34N|CARD9_uc010nbj.2_Missense_Mutation_p.S138N	NM_052814	NP_434701	Q9H257	CARD9_HUMAN	Homo sapiens caspase recruitment domain family, member 9 (CARD9), transcript variant 2, mRNA.	138					positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of stress-activated MAPK cascade|regulation of apoptosis	cytoplasm	CARD domain binding|protein homodimerization activity			endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(3)|skin(1)	15		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;4.58e-06)|Epithelial(140;5.65e-06)		ATCTTTGGAGCTCAGCAGCGC	0.622000														15			5		0	0	1	0	0
PATL1	219988	broad.mit.edu	37	11	59420449	59420449	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:59420449G>A	uc001noe.4	-	9	1307	c.1164C>T	c.(1162-1164)caC>caT	p.H388H	PATL1_uc009yms.1_Silent_p.H358H|PATL1_uc010rkw.2_Silent_p.H93H	NM_152716	NP_689929	Q86TB9	PATL1_HUMAN	Homo sapiens protein associated with topoisomerase II homolog 1 (yeast) (PATL1), mRNA.	388	Region N; interaction with decapping machinery.				cytoplasmic mRNA processing body assembly|deadenylation-dependent decapping of nuclear-transcribed mRNA	cytoplasmic mRNA processing body	RNA binding|protein binding			central_nervous_system(1)|endometrium(2)|lung(5)|ovary(1)|prostate(2)	11						GACTGCTCCGGTGACTTCCTC	0.438000														88			86		0	0	1	0	0
WBP11P1	441818	broad.mit.edu	37	18	30092242	30092242	+	RNA	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:30092242C>T	uc010dmc.3	+	0		c.617C>T								Homo sapiens WW domain binding protein 11 pseudogene 1 (WBP11P1), non-coding RNA.																		ACCAGATATGCCACATGCTTC	0.463000														8			5		0	0	1	0	0
C10orf96	374355	broad.mit.edu	37	10	118100340	118100340	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:118100340G>T	uc001lck.3	+	3	511	c.260G>T	c.(259-261)aGg>aTg	p.R87M		NM_198515	NP_940917	P0C7W6	CJ096_HUMAN	Homo sapiens chromosome 10 open reading frame 96 (C10orf96), mRNA.	87										kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)	18		Lung NSC(174;0.204)|all_lung(145;0.248)		all cancers(201;0.014)		ACAAACCATAGGAATATGCTT	0.284000														41			16		1.78486e-19	2.29754e-19	1	1	0
INPP4B	8821	broad.mit.edu	37	4	143159150	143159150	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:143159150C>A	uc003iix.4	-	12	1298	c.703G>T	c.(703-705)Gta>Tta	p.V235L	INPP4B_uc003iiw.4_Missense_Mutation_p.V235L|INPP4B_uc011chm.2_Non-coding_Transcript|INPP4B_uc011chn.1_Missense_Mutation_p.V50L|INPP4B_uc011cho.1_Non-coding_Transcript|INPP4B_uc011chp.1_Missense_Mutation_p.V106L	NM_003866	NP_003857	O15327	INP4B_HUMAN	Homo sapiens inositol polyphosphate-4-phosphatase, type II, 105kDa (INPP4B), transcript variant 1, mRNA.	235					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					AATTTACATACTGGGTTCTTT	0.313000														13			10		3.07112e-06	3.45634e-06	1	1	0
DENND4C	55667	broad.mit.edu	37	9	19369969	19369969	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:19369969G>T	uc003znq.3	+	25	4884	c.4804G>T	c.(4804-4806)Ggc>Tgc	p.G1602C	DENND4C_uc011lnc.2_Missense_Mutation_p.G932C|DENND4C_uc011lnd.2_Missense_Mutation_p.G890C|DENND4C_uc003znr.3_Missense_Mutation_p.G890C|DENND4C_uc003zns.3_Missense_Mutation_p.G784C	NM_017925	NP_060395	Q5VZ89	DEN4C_HUMAN	Homo sapiens DENN/MADD domain containing 4C (DENND4C), mRNA.	1602						integral to membrane				breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						AATGAAGCCAGGCATGAAAAG	0.333000														79			6		5.9392e-07	6.7814e-07	1	1	0
ANGPTL6	83854	broad.mit.edu	37	19	10206720	10206720	+	Missense_Mutation	SNP	G	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10206720G>C	uc002mmy.1	-	1	712	c.520C>G	c.(520-522)Cag>Gag	p.Q174E	ANGPTL6_uc002mmx.2_Missense_Mutation_p.Q174E	NM_031917	NP_114123	Q8NI99	ANGL6_HUMAN	Homo sapiens angiopoietin-like 6 (ANGPTL6), mRNA.	174					angiogenesis|cell differentiation|signal transduction	extracellular space	receptor binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)	12			OV - Ovarian serous cystadenocarcinoma(20;3.58e-08)|Epithelial(33;2.5e-05)|all cancers(31;5.96e-05)			AGACTGCTCTGCTGGGTGACG	0.716000														13			11		0	0	1	0	0
NLRC5	84166	broad.mit.edu	37	16	57092917	57092917	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:57092917C>A	uc021tiu.1	+	27	3991	c.3864C>A	c.(3862-3864)gcC>gcA	p.A1288A	NLRC5_uc021tiv.1_Silent_p.A1092A|NLRC5_uc021tiw.1_Silent_p.A1062A|NLRC5_uc010ccr.1_Non-coding_Transcript|NLRC5_uc010ccs.1_Non-coding_Transcript|NLRC5_uc002eko.1_Non-coding_Transcript|NLRC5_uc002ekq.1_5'UTR|NLRC5_uc002ekr.1_Silent_p.A175A	NM_032206	NP_115582	Q86WI3	NLRC5_HUMAN	Homo sapiens NLR family, CARD domain containing 5 (NLRC5), mRNA.	1288					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|RNA polymerase II core promoter sequence-specific DNA binding|protein binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				AGGAAAGTGCCCTGTACCTGC	0.587000														150			103		3.676e-42	4.88815e-42	1	1	0
KCNAB2	8514	broad.mit.edu	37	1	6154464	6154464	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:6154464C>T	uc009vlv.2	+	10	1050	c.507C>T	c.(505-507)acC>acT	p.T169T	KCNAB2_uc001alv.2_Silent_p.T169T|KCNAB2_uc001alw.2_Silent_p.T155T|KCNAB2_uc001alx.2_Silent_p.T169T|KCNAB2_uc001aly.2_Silent_p.T217T|KCNAB2_uc009vlw.2_Silent_p.T102T|KCNAB2_uc001alu.3_Silent_p.T169T	NM_001199861	NP_001186790	Q13303	KCAB2_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, beta member 2 (KCNAB2), transcript variant 4, mRNA.	169						cytoplasm|integral to membrane|juxtaparanode region of axon	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity			large_intestine(1)|lung(4)|skin(3)	8	Ovarian(185;0.0634)	all_cancers(23;5.85e-39)|all_epithelial(116;4.88e-22)|all_lung(118;4.21e-08)|Lung NSC(185;9.77e-07)|all_hematologic(16;2.78e-06)|all_neural(13;3.18e-06)|Acute lymphoblastic leukemia(12;0.000272)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00106)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211)		Epithelial(90;6.9e-37)|GBM - Glioblastoma multiforme(13;8.8e-31)|OV - Ovarian serous cystadenocarcinoma(86;1.45e-19)|Colorectal(212;2.46e-07)|COAD - Colon adenocarcinoma(227;2.07e-05)|Kidney(185;7.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00131)|BRCA - Breast invasive adenocarcinoma(365;0.00133)|STAD - Stomach adenocarcinoma(132;0.00391)|READ - Rectum adenocarcinoma(331;0.0649)		CGACAGAGACCGTCCGCGCCA	0.637000														6			4		0	0	1	0	0
LOC100125556	100125556	broad.mit.edu	37	3	125647534	125647534	+	RNA	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:125647534G>A	uc003eid.4	+	4		c.610G>A			LOC100125556_uc003eif.4_Non-coding_Transcript					Homo sapiens family with sequence similarity 86, member A pseudogene (LOC100125556), transcript variant 2, non-coding RNA.																		CACTGGACTGGAATGTTTGGA	0.443000														16			7		0	0	1	0	0
C14orf28	122525	broad.mit.edu	37	14	45370061	45370061	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:45370061A>C	uc001wvo.3	+	1	689	c.423A>C	c.(421-423)aaA>aaC	p.K141N	C14orf28_uc001wvp.1_Missense_Mutation_p.K141N	NM_001017923	NP_001017923	Q4W4Y0	CN028_HUMAN	Homo sapiens chromosome 14 open reading frame 28 (C14orf28), mRNA.	141										endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(2)	11						ATTTTACAAAAAATCTTGAAA	0.368000														27			12		0	0	1	0	0
RIOK3	8780	broad.mit.edu	37	18	21053408	21053408	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:21053408G>T	uc002kui.4	+	7	1448	c.831G>T	c.(829-831)aaG>aaT	p.K277N	RIOK3_uc010dls.3_Missense_Mutation_p.K277N|RIOK3_uc010xas.2_Missense_Mutation_p.K261N|RIOK3_uc010xat.2_Missense_Mutation_p.R69M	NM_003831	NP_003822	O14730	RIOK3_HUMAN	Homo sapiens RIO kinase 3 (yeast) (RIOK3), mRNA.	277	Protein kinase.				chromosome segregation		ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(2)	10	all_cancers(21;0.000106)|all_epithelial(16;6.74e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0202)|Ovarian(20;0.127)					AGGATGAAAAGGAAGATAGTA	0.308000														29			4		4.096e-09	4.85449e-09	1	1	0
RABGAP1	23637	broad.mit.edu	37	9	125748528	125748528	+	Silent	SNP	C	T	T	rs151226317		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:125748528C>T	uc011lzh.2	+	3	554	c.420C>T	c.(418-420)gcC>gcT	p.A140A	RABGAP1_uc004bnl.4_Non-coding_Transcript|RABGAP1_uc004bnm.1_Silent_p.A140A	NM_012197	NP_036329	Q9Y3P9	RBGP1_HUMAN	Homo sapiens RAB GTPase activating protein 1 (RABGAP1), mRNA.	140					cell cycle	centrosome|cytosol|microtubule associated complex	Rab GTPase activator activity|tubulin binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						CACCAGTGGCCGATGAGGACA	0.413000														46			24		0	0	1	0	0
CNOT7	29883	broad.mit.edu	37	8	17089983	17089983	+	Nonsense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:17089983C>A	uc003wxf.1	-	5	850	c.682G>T	c.(682-684)Gga>Tga	p.G228*	CNOT7_uc003wxg.1_Nonsense_Mutation_p.G228*|CNOT7_uc003wxh.1_Nonsense_Mutation_p.G228*	NM_013354	NP_037486	Q9UIV1	CNOT7_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 7 (CNOT7), transcript variant 1, mRNA.	228					carbohydrate metabolic process|nuclear-transcribed mRNA poly(A) tail shortening	CCR4-NOT complex|cytoplasmic mRNA processing body|cytosol	nucleic acid binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)	11				Colorectal(111;0.0523)|COAD - Colon adenocarcinoma(73;0.209)		GAATCAGATCCTGCCTGATGT	0.398000														85			38		2.00842e-17	2.56038e-17	1	1	0
CNGA1	1259	broad.mit.edu	37	4	47942779	47942779	+	Splice_Site	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:47942779C>T	uc003gxu.3	-	9	1012	c.871_splice	c.e9+1	p.G291_splice	BC041434_uc003gxr.1_Intron|CNGA1_uc003gxt.4_Splice_Site_p.G222_splice	NM_001142564	NP_000078	P29973	CNGA1_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 1 (CNGA1), transcript variant 1, mRNA.	222					response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						AACATATTTACCTGTCCTTGT	0.294000														33			21		0	0	1	0	0
C20orf27	54976	broad.mit.edu	37	20	3734741	3734741	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:3734741G>A	uc002wjh.1	-	5	793	c.564C>T	c.(562-564)taC>taT	p.Y188Y	C20orf27_uc002wjf.1_3'UTR|C20orf27_uc002wji.1_Silent_p.Y163Y	NM_001039140	NP_001034229	Q9GZN8	CT027_HUMAN	Homo sapiens chromosome 20 open reading frame 27 (C20orf27), mRNA.	163										central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)|urinary_tract(1)	7						GCTCTGAGTCGTATTCCAGCT	0.672000														9			8		0	0	1	0	0
CEPT1	10390	broad.mit.edu	37	1	111726101	111726101	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:111726101A>G	uc001eah.1	+	7	1231	c.1023A>G	c.(1021-1023)aaA>aaG	p.K341K	CEPT1_uc001eai.1_Silent_p.K341K|CEPT1_uc001eaj.1_Silent_p.K341K	NM_001007794	NP_006081	Q9Y6K0	CEPT1_HUMAN	Homo sapiens choline/ethanolamine phosphotransferase 1 (CEPT1), transcript variant 2, mRNA.	341						endoplasmic reticulum membrane|integral to membrane|nuclear membrane	diacylglycerol cholinephosphotransferase activity|ethanolaminephosphotransferase activity|metal ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	8		all_cancers(81;2.27e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359)		Lung(183;0.0173)|Colorectal(144;0.0375)|all cancers(265;0.0701)|LUSC - Lung squamous cell carcinoma(189;0.0888)|Epithelial(280;0.103)|COAD - Colon adenocarcinoma(174;0.141)	Choline(DB00122)	ACATGACGAAAAGTGAAATGC	0.348000														86			24		0	0	1	0	0
TGFBI	7045	broad.mit.edu	37	5	135392419	135392419	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:135392419C>T	uc003lbf.4	+	11	1774	c.1613C>T	c.(1612-1614)aCa>aTa	p.T538I	TGFBI_uc003lbg.4_Missense_Mutation_p.T271I|TGFBI_uc003lbh.4_Missense_Mutation_p.T364I|TGFBI_uc011cyb.2_Missense_Mutation_p.T364I	NM_000358	NP_000349	Q15582	BGH3_HUMAN	Homo sapiens transforming growth factor, beta-induced, 68kDa (TGFBI), mRNA.	538	FAS1 4.		T -> R (in CDL1; delayed age of onset).		angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception	extracellular space|proteinaceous extracellular matrix	integrin binding			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GGAGTCTACACAGTCTTTGCT	0.507000														37			9		0	0	1	0	0
SHARPIN	81858	broad.mit.edu	37	8	145153817	145153817	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:145153817G>T	uc003zba.3	-	7	1612	c.1128C>A	c.(1126-1128)ccC>ccA	p.P376P	SHARPIN_uc003zbb.3_Non-coding_Transcript	NM_030974	NP_112236	Q9H0F6	SHRPN_HUMAN	Homo sapiens SHANK-associated RH domain interactor (SHARPIN), transcript variant 1, mRNA.	376					negative regulation of inflammatory response|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein linear polyubiquitination|regulation of CD40 signaling pathway|regulation of tumor necrosis factor-mediated signaling pathway	LUBAC complex|cytosol	polyubiquitin binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|lung(2)|ovary(2)	7	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-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;4.1e-42)|Epithelial(56;1.58e-40)|all cancers(56;6.12e-36)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCCAAGTGCAGGGCCTCTGGG	0.632000														19			12		1.61879e-10	1.95797e-10	1	1	0
GTF2F1	2962	broad.mit.edu	37	19	6389587	6389587	+	Nonsense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:6389587G>T	uc002meq.2	-	3	479	c.194C>A	c.(193-195)tCg>tAg	p.S65*	GTF2F1_uc010xjb.1_5'Flank|GTF2F1_uc010xjc.1_Nonsense_Mutation_p.S37*	NM_002096	NP_002087	P35269	T2FA_HUMAN	Homo sapiens general transcription factor IIF, polypeptide 1, 74kDa (GTF2F1), mRNA.	65					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|response to virus|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cell junction|transcription factor TFIIF complex	DNA binding|catalytic activity|phosphatase activator activity|transcription coactivator activity|transcription factor binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)	16						GCCCGCGCCCGATTCGGGCAT	0.622000														152			13		1.37285e-15	1.73089e-15	1	1	0
LRRC56	115399	broad.mit.edu	37	11	550080	550080	+	Silent	SNP	C	T	T	rs140852130	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:550080C>T	uc010qvz.2	+	7	937	c.432C>T	c.(430-432)taC>taT	p.Y144Y		NM_198075	NP_932341	Q8IYG6	LRC56_HUMAN	Homo sapiens leucine rich repeat containing 56 (LRRC56), mRNA.	144										kidney(1)|lung(4)|skin(1)	6		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AGGAACTCTACGCCTCCTACA	0.657000														67			33		0	0	1	0	0
TPM1	7168	broad.mit.edu	37	15	63363318	63363318	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:63363318C>A	uc002alm.3	+	9	1119	c.928C>A	c.(928-930)Ctt>Att	p.L310I	TPM1_uc002ali.3_Missense_Mutation_p.L268I|TPM1_uc002alj.3_Missense_Mutation_p.L268I|TPM1_uc002alk.3_Missense_Mutation_p.L268I|TPM1_uc002all.3_Missense_Mutation_p.L268I|TPM1_uc010uig.2_Missense_Mutation_p.L232I|TPM1_uc002alt.3_Missense_Mutation_p.L232I|TPM1_uc021sou.1_Non-coding_Transcript	NM_001018008	NP_001018008	P09493	TPM1_HUMAN	Homo sapiens tropomyosin 1 (alpha) (TPM1), transcript variant 6, mRNA.	268					cardiac muscle contraction|cellular component movement|cellular response to reactive oxygen species|muscle filament sliding|negative regulation of cell migration|positive regulation of ATPase activity|positive regulation of cell adhesion|positive regulation of heart rate by epinephrine|positive regulation of stress fiber assembly|regulation of muscle contraction|ruffle organization|sarcomere organization|ventricular cardiac muscle tissue morphogenesis|wound healing	bleb|cytosol|muscle thin filament tropomyosin|ruffle membrane|stress fiber	actin binding|structural constituent of cytoskeleton|structural constituent of muscle			endometrium(1)|large_intestine(1)|lung(2)	4						AGAAGAAAACCTTAGTATGCA	0.388000														84			10		0.000978159	0.00103832	1	1	0
ZNF665	79788	broad.mit.edu	37	19	53668594	53668594	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:53668594G>A	uc010eqm.1	-	3	1249	c.1149C>T	c.(1147-1149)ttC>ttT	p.F383F		NM_024733	NP_079009	Q9H7R5	ZN665_HUMAN	Homo sapiens zinc finger protein 665 (ZNF665), mRNA.	318					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		AATGCATACTGAAGGCTTTCC	0.408000														38			23		0	0	1	0	0
SYPL2	284612	broad.mit.edu	37	1	110019486	110019486	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:110019486G>A	uc001dxp.3	+	3	709	c.343G>A	c.(343-345)Gcc>Acc	p.A115T	SYPL2_uc001dxo.2_Missense_Mutation_p.A115T|SYPL2_uc010ovk.2_Missense_Mutation_p.A115T|SYPL2_uc001dxq.2_Missense_Mutation_p.A23T	NM_001040709	NP_001035799	Q5VXT5	SYPL2_HUMAN	Homo sapiens synaptophysin-like 2 (SYPL2), mRNA.	115	MARVEL.					integral to membrane|synaptic vesicle	transporter activity			breast(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	16		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Colorectal(144;0.0129)|Lung(183;0.0436)|READ - Rectum adenocarcinoma(129;0.0698)|Epithelial(280;0.0808)|all cancers(265;0.0869)|LUSC - Lung squamous cell carcinoma(189;0.231)		CTCTGCACCCGCCGAGTTCTT	0.537000														39			9		0	0	1	0	0
DST	667	broad.mit.edu	37	6	56397210	56397210	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:56397210C>T	uc003pcy.4	-	44	9279	c.9171G>A	c.(9169-9171)gtG>gtA	p.V3057V		NM_015548	NP_056363	Q03001	DYST_HUMAN	Homo sapiens dystonin (DST), transcript variant 1eA, mRNA.	5469					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	Z disc|actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein C-terminus binding|protein binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TCAAAATCTTCACTTTATCTG	0.403000														18			15		0	0	1	0	0
MYO1F	4542	broad.mit.edu	37	19	8606809	8606809	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:8606809G>T	uc002mkg.3	-	14	1729	c.1591C>A	c.(1591-1593)Ctg>Atg	p.L531M		NM_012335	NP_036467	O00160	MYO1F_HUMAN	Homo sapiens myosin IF (MYO1F), mRNA.	531	Myosin head-like.					unconventional myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						GTCTGCATCAGCTCTATGAGG	0.617000														56			7		0.00448238	0.0046769	1	1	0
C2orf16	84226	broad.mit.edu	37	2	27801488	27801488	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:27801488G>T	uc002rkz.4	+	0	2100	c.2049G>T	c.(2047-2049)caG>caT	p.Q683H		NM_032266	NP_115642	Q68DN1	CB016_HUMAN	Homo sapiens chromosome 2 open reading frame 16 (C2orf16), mRNA.	683										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					AAGGGCTTCAGGCTGTGAAAT	0.413000														72			29		7.53681e-25	9.85213e-25	1	1	0
TTBK2	146057	broad.mit.edu	37	15	43067512	43067512	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:43067512C>T	uc001zqo.2	-	12	2258	c.1819G>A	c.(1819-1821)Gat>Aat	p.D607N	TTBK2_uc010bcy.2_Missense_Mutation_p.D538N	NM_173500	NP_775771	Q6IQ55	TTBK2_HUMAN	Homo sapiens tau tubulin kinase 2 (TTBK2), mRNA.	607					cell death		ATP binding|protein serine/threonine kinase activity	p.N606T(1)		NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		TTTAAATGATCATTTTCTGCC	0.463000														86			30		0	0	1	0	0
DCAF8L1	139425	broad.mit.edu	37	X	27999353	27999353	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:27999353C>T	uc004dbx.1	-	0	214	c.99G>A	c.(97-99)acG>acA	p.T33T		NM_001017930	NP_001017930	A6NGE4	DC8L1_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 8-like 1 (DCAF8L1), mRNA.	33										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						AGGAGGCCGCCGTCACCGCTG	0.567000														22			13		0	0	1	0	0
MTBP	27085	broad.mit.edu	37	8	121463488	121463488	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:121463488C>T	uc003ypc.1	+	3	396	c.351C>T	c.(349-351)atC>atT	p.I117I	MTBP_uc003ypb.1_Silent_p.I117I|MTBP_uc011lie.1_Non-coding_Transcript	NM_022045	NP_071328	Q96DY7	MTBP_HUMAN	Homo sapiens Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa (MTBP), mRNA.	117					cell cycle arrest					NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			AAACGAATATCGAAGAATGTT	0.313000														53			7		0	0	1	0	0
NRSN1	140767	broad.mit.edu	37	6	24134670	24134670	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:24134670G>A	uc010jpq.1	+	2	352	c.115G>A	c.(115-117)Gcc>Acc	p.A39T		NM_080723	NP_542454	Q8IZ57	NRSN1_HUMAN	Homo sapiens neurensin 1 (NRSN1), mRNA.	39					nervous system development	growth cone|integral to membrane|neuronal cell body|transport vesicle				breast(1)|endometrium(2)|large_intestine(2)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	22						GGACTGTACAGCCTCAATTTG	0.507000														52			7		0	0	1	0	0
FAM184A	79632	broad.mit.edu	37	6	119295646	119295646	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:119295646A>C	uc003pyj.3	-	13	3210	c.2862T>G	c.(2860-2862)gaT>gaG	p.D954E	FAM184A_uc003pyk.4_Intron|FAM184A_uc003pyl.4_Intron|FAM184A_uc003pyi.3_Non-coding_Transcript	NM_024581	NP_078857	Q8NB25	F184A_HUMAN	Homo sapiens family with sequence similarity 184, member A (FAM184A), transcript variant 1, mRNA.	954										breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						TCTTATTAAAATCTGCCCGCA	0.343000														137			90		0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195487873	195487873	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:195487873G>T	uc021xjp.1	-	15	14886	c.14730C>A	c.(14728-14730)atC>atA	p.I4910I	MUC4_uc003fuz.3_Silent_p.I508I|MUC4_uc003fva.3_Silent_p.I390I|MUC4_uc003fvb.3_Silent_p.I426I|MUC4_uc003fvc.3_Non-coding_Transcript|MUC4_uc003fvd.3_Non-coding_Transcript|MUC4_uc003fve.3_Silent_p.I426I|MUC4_uc010hzr.3_Non-coding_Transcript|MUC4_uc021xjm.1_Silent_p.I419I|MUC4_uc021xjn.1_Silent_p.I599I|MUC4_uc021xjo.1_Silent_p.I390I|MUC4_uc021xjg.1_Silent_p.I390I|MUC4_uc021xjh.1_Non-coding_Transcript|MUC4_uc021xji.1_Silent_p.I474I|MUC4_uc021xjj.1_Silent_p.I474I|MUC4_uc021xjk.1_Silent_p.I651I|MUC4_uc021xjl.1_Silent_p.I390I|MUC4_uc003fvo.3_Silent_p.I674I|MUC4_uc003fvp.3_Silent_p.I623I	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	1667					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		CACAGTTGGAGATCAAATGTT	0.512000														57			30		4.15321e-07	4.76399e-07	1	1	0
CDH2	1000	broad.mit.edu	37	18	25727734	25727734	+	Silent	SNP	A	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:25727734A>T	uc002kwg.2	-	1	534	c.75T>A	c.(73-75)gcT>gcA	p.A25A		NM_001792	NP_001783	P19022	CADH2_HUMAN	Homo sapiens cadherin 2, type 1, N-cadherin (neuronal) (CDH2), mRNA.	25					adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						TTTCACCAGAAGCCTCTACAG	0.418000														18			8		0	0	1	0	0
RERG	85004	broad.mit.edu	37	12	15262092	15262092	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:15262092C>T	uc001rcs.3	-	3	692	c.552G>A	c.(550-552)acG>acA	p.T184T	RERG_uc001rct.3_Silent_p.T184T|RERG_uc010shu.2_Silent_p.T165T	NM_032918	NP_116307	Q96A58	RERG_HUMAN	Homo sapiens RAS-like, estrogen-regulated, growth inhibitor (RERG), transcript variant 1, mRNA.	184					negative regulation of cell growth|negative regulation of cell proliferation|response to hormone stimulus|small GTPase mediated signal transduction	cytosol|membrane|nucleus	GDP binding|GTP binding|GTPase activity|estrogen receptor binding	p.T184K(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16						GCTTGACATGCGTGGTGGAGC	0.517000														99			8		0	0	1	0	0
RBM42	79171	broad.mit.edu	37	19	36124733	36124733	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:36124733C>T	uc002oan.3	+	6	905	c.829C>T	c.(829-831)Cct>Tct	p.P277S	RBM42_uc002oap.3_Missense_Mutation_p.P247S|RBM42_uc002oaq.3_Missense_Mutation_p.P248S	NM_024321	NP_077297	Q9BTD8	RBM42_HUMAN	Homo sapiens RNA binding motif protein 42 (RBM42), mRNA.	277	Necessary for interaction with HNRNPK (By similarity).|Pro-rich.					cytoplasm|nucleus	RNA binding|nucleotide binding			breast(1)|endometrium(3)|large_intestine(7)|lung(9)|prostate(1)	21	all_lung(56;1.58e-07)|Lung NSC(56;2.43e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CCCAGCTGGCCCTGCAGTCAT	0.731000														1			3		0	0	1	0	0
HSPA4	3308	broad.mit.edu	37	5	132406144	132406144	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:132406144G>A	uc003kyj.3	+	3	666	c.385G>A	c.(385-387)Gcc>Acc	p.A129T		NM_002154	NP_002145	P34932	HSP74_HUMAN	Homo sapiens heat shock 70kDa protein 4 (HSPA4), mRNA.	129					cellular chaperone-mediated protein complex assembly|protein import into mitochondrial outer membrane|response to unfolded protein	cytoplasm|nucleus	ATP binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|stomach(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GAAGGAGACAGCCGAAAGTGT	0.423000														59			33		0	0	1	0	0
COL2A1	1280	broad.mit.edu	37	12	48379542	48379542	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:48379542C>T	uc001rqu.3	-	24	1830	c.1649G>A	c.(1648-1650)cGt>cAt	p.R550H	COL2A1_uc009zkw.3_Non-coding_Transcript|COL2A1_uc001rqv.3_Missense_Mutation_p.R481H	NM_001844	NP_001835	P02458	CO2A1_HUMAN	Homo sapiens collagen, type II, alpha 1 (COL2A1), transcript variant 1, mRNA.	550	Triple-helical region.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	TTCTCCAGGACGGCCAGGGTC	0.647000														16			6		0	0	1	0	0
MGAT5B	146664	broad.mit.edu	37	17	74868844	74868844	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:74868844G>A	uc002jti.3	+	0	116	c.13G>A	c.(13-15)Gta>Ata	p.V5I	MGAT5B_uc002jtg.4_Intron|MGAT5B_uc002jth.3_Intron	NM_198955	NP_945193	Q3V5L5	MGT5B_HUMAN	Homo sapiens mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B (MGAT5B), transcript variant 2, mRNA.	0						Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GCACTCATTCGTAAAACATTT	0.572000														11			5		0	0	1	0	0
AXL	558	broad.mit.edu	37	19	41748813	41748813	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:41748813C>T	uc010ehj.3	+	10	1528	c.1338C>T	c.(1336-1338)ttC>ttT	p.F446F	AXL_uc010ehi.1_Silent_p.F446F|AXL_uc010ehk.3_Silent_p.F437F|TRNA_Pseudo_uc021uux.1_5'Flank	NM_021913	NP_068713	P30530	UFO_HUMAN	Homo sapiens AXL receptor tyrosine kinase (AXL), transcript variant 1, mRNA.	446						integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						CTCCTGCCTTCTCGTGGCCCT	0.567000														43			39		0	0	1	0	0
BTN2A2	10385	broad.mit.edu	37	6	26385353	26385353	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:26385353C>T	uc003nht.3	+	2	338	c.205C>T	c.(205-207)Cgg>Tgg	p.R69W	BTN2A2_uc003nhs.3_Missense_Mutation_p.R69W|BTN2A2_uc011dkf.2_Intron|BTN2A2_uc003nhq.3_Missense_Mutation_p.R69W|BTN2A2_uc003nhr.3_Intron|BTN2A2_uc011dkh.2_Intron|BTN2A2_uc011dkg.2_Missense_Mutation_p.R69W	NM_001197237	NP_001184166	Q8WVV5	BT2A2_HUMAN	Homo sapiens butyrophilin, subfamily 2, member A2 (BTN2A2), transcript variant 3, mRNA.	69	Ig-like V-type.				negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion	integral to membrane				breast(2)|endometrium(3)|large_intestine(5)|lung(13)	23						CATGGAGGTGCGGTGGTTCCG	0.547000														27			13		0	0	1	0	0
RMND5A	64795	broad.mit.edu	37	2	86997171	86997171	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:86997171C>T	uc002srr.2	+	6	1257	c.880C>T	c.(880-882)Cca>Tca	p.P294S	RMND5A_uc002srs.4_Intron	NM_022780	NP_073617	Q9H871	RMD5A_HUMAN	Homo sapiens required for meiotic nuclear division 5 homolog A (S. cerevisiae) (RMND5A), mRNA.	294										kidney(1)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	17						TGTGGCGCTGCCAGCTTTAAT	0.488000														218			14		0	0	1	0	0
NDUFB11	54539	broad.mit.edu	37	X	47002075	47002075	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:47002075G>T	uc004dhc.3	-	1	807	c.276C>A	c.(274-276)ttC>ttA	p.F92L	NDUFB11_uc004dhd.3_Missense_Mutation_p.F92L|RBM10_uc004dhe.2_5'Flank|RBM10_uc004dhf.3_5'Flank|RBM10_uc004dhi.3_5'Flank|RBM10_uc004dhh.3_5'Flank|RBM10_uc010nhq.3_5'Flank|RBM10_uc004dhg.3_5'Flank	NM_019056	NP_061929	Q9NX14	NDUBB_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 11, 17.3kDa (NDUFB11), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	92					respiratory electron transport chain|transport	integral to membrane|mitochondrial respiratory chain complex I				endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	7						AGACGCCAAAGAAGAAGACAA	0.537000														59			6		1.6384e-10	1.98099e-10	1	1	0
BTNL2	56244	broad.mit.edu	37	6	32362800	32362800	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:32362800G>T	uc003obg.1	-	5	1081	c.1081C>A	c.(1081-1083)Ctg>Atg	p.L361M	BTNL2_uc010jty.1_Missense_Mutation_p.L84M|BTNL2_uc010jtz.1_Non-coding_Transcript|BTNL2_uc010jua.1_Missense_Mutation_p.L151M	NM_019602	NP_062548	Q9UIR0	BTNL2_HUMAN	Homo sapiens butyrophilin-like 2 (MHC class II associated) (BTNL2), mRNA.	361						integral to membrane				central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1)	19						GAAGAACCCAGACCTGGGGCA	0.567000														52			29		2.65835e-16	3.3677e-16	1	1	0
MAP7D2	256714	broad.mit.edu	37	X	20034272	20034272	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:20034272C>T	uc010nfo.2	-	10	1701	c.1584G>A	c.(1582-1584)gaG>gaA	p.E528E	MAP7D2_uc004czq.2_Silent_p.E372E|MAP7D2_uc011mji.2_Silent_p.E435E|MAP7D2_uc004czr.2_Silent_p.E487E|MAP7D2_uc011mjj.2_Silent_p.E442E	NM_001168465	NP_001161937	Q96T17	MA7D2_HUMAN	Homo sapiens MAP7 domain containing 2 (MAP7D2), transcript variant 1, mRNA.	487										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						tcaacaacagctcctcctcag	0.438000														14			4		0	0	1	0	0
CCDC82	79780	broad.mit.edu	37	11	96098203	96098203	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:96098203C>T	uc001pfx.4	-	7	1535	c.1321G>A	c.(1321-1323)Gga>Aga	p.G441R	CCDC82_uc009ywp.3_Missense_Mutation_p.G441R|CCDC82_uc009ywr.3_Missense_Mutation_p.G441R	NM_024725	NP_079001	Q8N4S0	CCD82_HUMAN	Homo sapiens coiled-coil domain containing 82 (CCDC82), mRNA.	441							protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.154)		TACAACTCTCCTGATAAATGC	0.333000														60			8		0	0	1	0	0
PPP1R26	9858	broad.mit.edu	37	9	138379220	138379220	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:138379220G>T	uc022bpi.1	+	0	2864	c.2864G>T	c.(2863-2865)aGg>aTg	p.R955M	PPP1R26_uc004cfr.1_Missense_Mutation_p.R955M	NM_014811	NP_055626	Q5T8A7	K0649_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 26 (PPP1R26), mRNA.	955						nucleolus	protein binding										TCAGTGAGCAGGAGAAATGTT	0.657000														37			28		4.06085e-26	5.32414e-26	1	1	0
PTPN11	5781	broad.mit.edu	37	12	112926976	112926976	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:112926976G>A	uc001ttx.3	+	12	1976	c.1596G>A	c.(1594-1596)gaG>gaA	p.E532E		NM_002834	NP_002825	Q06124	PTN11_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 11 (PTPN11), mRNA.	536					T cell costimulation|axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytosol	non-membrane spanning protein tyrosine phosphatase activity|protein binding			NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						TTGAAGAAGAGCAGGTACCAG	0.502000			Mis		"""JMML, AML, MDS"""		Noonan Syndrome		Noonan syndrome					131			8		0	0	1	0	0
ADAMTS10	81794	broad.mit.edu	37	19	8651776	8651776	+	Silent	SNP	G	A	A	rs141517207	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:8651776G>A	uc002mkj.1	-	18	2437	c.2163C>T	c.(2161-2163)taC>taT	p.Y721Y	ADAMTS10_uc002mki.1_Silent_p.Y208Y|ADAMTS10_uc002mkk.1_Silent_p.Y353Y	NM_030957	NP_112219	Q9H324	ATS10_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 10 (ADAMTS10), mRNA.	721	Spacer.				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						CGACATCCTCGTACCCTGAAC	0.557000											OREG0025221	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		30			24		0	0	1	0	0
RBBP8	5932	broad.mit.edu	37	18	20576405	20576405	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:20576405G>A	uc002kua.3	+	12	2131	c.2008G>A	c.(2008-2010)Gtt>Att	p.V670I	RBBP8_uc002ktw.3_Missense_Mutation_p.V670I|RBBP8_uc002kty.3_Missense_Mutation_p.V670I|RBBP8_uc002ktz.3_Missense_Mutation_p.V670I|RBBP8_uc010xap.2_Missense_Mutation_p.V3I	NM_203291	NP_976036	Q99708	COM1_HUMAN	Homo sapiens retinoblastoma binding protein 8 (RBBP8), transcript variant 2, mRNA.	670					DNA double-strand break processing involved in repair via single-strand annealing|cell cycle checkpoint|meiosis|regulation of transcription from RNA polymerase II promoter	nucleus	damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity			central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			TAAAATGGATGTTACTGTAAT	0.353000								Homologous recombination						45			5		0	0	1	0	0
DNAH1	25981	broad.mit.edu	37	3	52417476	52417476	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52417476G>A	uc011bef.2	+	50	8277	c.8016G>A	c.(8014-8016)gcG>gcA	p.A2672A	DNAH1_uc003ddv.3_5'Flank	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA.	2672	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TGTATACTGCGGACGAGCAGG	0.557000														11			4		0	0	1	0	0
ZDHHC16	84287	broad.mit.edu	37	10	99213323	99213323	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:99213323G>A	uc001knj.3	+	6	959	c.593G>A	c.(592-594)cGg>cAg	p.R198Q	ZDHHC16_uc001knk.3_Missense_Mutation_p.R198Q|ZDHHC16_uc001knl.3_Missense_Mutation_p.R198Q|ZDHHC16_uc001knm.3_Missense_Mutation_p.R133Q|ZDHHC16_uc001knn.3_Intron|ZDHHC16_uc010qow.2_Missense_Mutation_p.R198Q	NM_198046	NP_932163	Q969W1	ZDH16_HUMAN	Homo sapiens zinc finger, DHHC-type containing 16 (ZDHHC16), transcript variant 5, mRNA.	198					apoptosis	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity|zinc ion binding			kidney(4)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	14		Colorectal(252;0.0846)		Epithelial(162;5.81e-10)|all cancers(201;4.19e-08)		TATAACCATCGGTACTTCTTC	0.488000														79			62		0	0	1	0	0
ALG10	84920	broad.mit.edu	37	12	34178815	34178815	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:34178815G>A	uc001rlm.3	+	2	706	c.387G>A	c.(385-387)caG>caA	p.Q129Q		NM_032834	NP_116223	Q5BKT4	AG10A_HUMAN	Homo sapiens asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog (S. pombe) (ALG10), mRNA.	129					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26	Lung NSC(5;3.82e-05)|Acute lymphoblastic leukemia(23;0.0142)|all_hematologic(23;0.0429)	Lung NSC(34;0.204)|all_lung(34;0.235)				CAAGTATCCAGAGAGTCTTGT	0.303000														65			44		0	0	1	0	0
ACD	65057	broad.mit.edu	37	16	67691948	67691948	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:67691948G>A	uc002etq.4	-	9	1742	c.1405C>T	c.(1405-1407)Cgg>Tgg	p.R469W	ACD_uc002etp.4_Missense_Mutation_p.R466W|ACD_uc002etr.4_Missense_Mutation_p.R466W|ACD_uc010vjt.1_3'UTR|PARD6A_uc002ett.3_5'Flank|PARD6A_uc002ets.3_5'Flank	NM_001082486	NP_001075955	Q96AP0	ACD_HUMAN	Homo sapiens adrenocortical dysplasia homolog (mouse) (ACD), transcript variant 1, mRNA.	469					intracellular protein transport|negative regulation of telomere maintenance via telomerase|positive regulation of single-stranded telomeric DNA binding|positive regulation of telomerase activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|telomere assembly	nuclear telomere cap complex|nucleoplasm	DNA binding|DNA polymerase binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		AAAGGCGGCCGATTCTTGCAG	0.607000														29			34		0	0	1	0	0
ATXN10	25814	broad.mit.edu	37	22	46125390	46125390	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:46125390G>A	uc003bgm.2	+	6	1080	c.814G>A	c.(814-816)Gct>Act	p.A272T	ATXN10_uc011aqt.2_Missense_Mutation_p.A208T|ATXN10_uc003bgn.2_Missense_Mutation_p.A83T	NM_013236	NP_037368	Q9UBB4	ATX10_HUMAN	Homo sapiens ataxin 10 (ATXN10), transcript variant 1, mRNA.	272					cell death|neuron projection development	dendrite|neuronal cell body|perinuclear region of cytoplasm				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	10		Ovarian(80;0.00973)|all_neural(38;0.0417)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0223)		TTTGCGGCATGCTGAGTTGAT	0.478000														66			27		0	0	1	0	0
MCM8	84515	broad.mit.edu	37	20	5974203	5974203	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:5974203C>A	uc002wmk.3	+	17	2789	c.2412C>A	c.(2410-2412)tcC>tcA	p.S804S	MCM8_uc002wmi.3_Silent_p.S764S|MCM8_uc002wmj.3_Silent_p.S748S|MCM8_uc002wml.3_Silent_p.S764S|MCM8_uc010gbp.3_Silent_p.S717S|MCM8_uc002wmm.3_Silent_p.S302S	NM_032485	NP_115874	Q9UJA3	MCM8_HUMAN	Homo sapiens minichromosome maintenance complex component 8 (MCM8), transcript variant 1, mRNA.	764					DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|nucleoside-triphosphatase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						TTGAGCGATCCCAGCATGGTT	0.363000														72			8		0.000442599	0.000473562	1	1	0
LRP5	4041	broad.mit.edu	37	11	68157500	68157500	+	Missense_Mutation	SNP	G	A	A	rs80358309		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:68157500G>A	uc001ont.3	+	6	1639	c.1564G>A	c.(1564-1566)Gcc>Acc	p.A522T	LRP5_uc009ysg.3_Intron	NM_002335	NP_002326	O75197	LRP5_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 5 (LRP5), mRNA.	522	Beta-propeller 2.		A -> T (in EVR4).		Wnt receptor signaling pathway involved in dorsal/ventral axis specification|adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CTGGGGAGACGCCAAGACAGA	0.642000														20			14		0	0	1	0	0
HEPHL1	341208	broad.mit.edu	37	11	93821949	93821949	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:93821949G>A	uc001pep.2	+	11	2266	c.2109G>A	c.(2107-2109)atG>atA	p.M703I	AF086184_uc001pen.1_Intron	NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN	Homo sapiens hephaestin-like 1 (HEPHL1), mRNA.	703	Plastocyanin-like 4.				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)				GTGCCACCATGCCCCACCTCT	0.483000														24			10		0	0	1	0	0
ZNF214	7761	broad.mit.edu	37	11	7021900	7021900	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:7021900G>A	uc009yfh.1	-	2	1313	c.1014C>T	c.(1012-1014)gaC>gaT	p.D338D	ZNF214_uc001mfa.2_Silent_p.D338D|ZNF214_uc010ray.1_Silent_p.D338D	NM_013249	NP_037381	Q9UL59	ZN214_HUMAN	Homo sapiens zinc finger protein 214 (ZNF214), mRNA.	338					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081)		TTCTACTGAGGTCTTTATCAC	0.373000														56			56		0	0	1	0	0
ACVRL1	94	broad.mit.edu	37	12	52314611	52314611	+	Silent	SNP	G	A	A	rs142343727		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:52314611G>A	uc001rzj.3	+	9	1729	c.1446G>A	c.(1444-1446)gcG>gcA	p.A482A	ACVRL1_uc001rzk.3_Silent_p.A482A|ACVRL1_uc010snm.2_Silent_p.A308A	NM_000020	NP_001070869	P37023	ACVL1_HUMAN	Homo sapiens activin A receptor type II-like 1 (ACVRL1), transcript variant 1, mRNA.	482	Protein kinase.		A -> V (in HHT2).		blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of DNA replication|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells	cell surface|integral to plasma membrane	ATP binding|SMAD binding|activin binding|activin receptor activity, type I|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta binding|transforming growth factor beta receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(357;0.0991)	Adenosine triphosphate(DB00171)	GACTCACCGCGCTGCGGATCA	0.557000														21			13		0	0	1	0	0
SNX9	51429	broad.mit.edu	37	6	158349675	158349675	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:158349675A>G	uc003qqv.1	+	11	1402	c.1229A>G	c.(1228-1230)gAt>gGt	p.D410G		NM_016224	NP_057308	Q9Y5X1	SNX9_HUMAN	Homo sapiens sorting nexin 9 (SNX9), mRNA.	410	BAR.				cell communication|intracellular protein transport|lipid tube assembly|positive regulation of GTPase activity|positive regulation of protein oligomerization|receptor-mediated endocytosis	clathrin-coated vesicle|cytoplasmic vesicle membrane|extrinsic to internal side of plasma membrane|ruffle|trans-Golgi network	1-phosphatidylinositol binding|protein homodimerization activity|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167)		OV - Ovarian serous cystadenocarcinoma(65;8.06e-18)|BRCA - Breast invasive adenocarcinoma(81;4.48e-05)		AAGGCCATGGATGACGGCGTG	0.622000														10			3		0	0	1	0	0
POLR3A	11128	broad.mit.edu	37	10	79784456	79784456	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:79784456C>T	uc001jzn.3	-	4	629	c.496G>A	c.(496-498)Gta>Ata	p.V166I		NM_007055	NP_008986	O14802	RPC1_HUMAN	Homo sapiens polymerase (RNA) III (DNA directed) polypeptide A, 155kDa (POLR3A), mRNA.	166					innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			CACTTCTTTACGGTACCTATA	0.323000														45			22		0	0	1	0	0
MRPL4	51073	broad.mit.edu	37	19	10369091	10369091	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10369091C>T	uc002mnm.3	+	7	709	c.555C>T	c.(553-555)gaC>gaT	p.D185D	MRPL4_uc002mnn.3_Silent_p.D185D|MRPL4_uc002mno.3_Silent_p.D185D	NM_146387	NP_666499	Q9BYD3	RM04_HUMAN	Homo sapiens mitochondrial ribosomal protein L4 (MRPL4), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	185					translation	mitochondrion|ribosome	structural constituent of ribosome			breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11		Renal(1328;0.0112)	OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;1.99e-06)|all cancers(31;4.81e-06)	Lung(535;0.00705)		TCCACCAGGACGACCTGCACA	0.637000														41			29		0	0	1	0	0
SLC44A1	23446	broad.mit.edu	37	9	108110667	108110667	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:108110667G>T	uc004bcn.3	+	4	656	c.435G>T	c.(433-435)aaG>aaT	p.K145N		NM_080546	NP_536856	Q8WWI5	CTL1_HUMAN	Homo sapiens solute carrier family 44, member 1 (SLC44A1), mRNA.	145						integral to membrane|mitochondrial outer membrane|plasma membrane	choline transmembrane transporter activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	38					Choline(DB00122)	ACAACCTAAAGCCTTCTGAAT	0.363000														51			34		3.66082e-28	4.81729e-28	1	1	0
MYH7B	57644	broad.mit.edu	37	20	33586624	33586624	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:33586624C>T	uc002xbi.2	+	34	4539	c.4222C>T	c.(4222-4224)Cgg>Tgg	p.R1408W		NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	Homo sapiens myosin, heavy chain 7B, cardiac muscle, beta (MYH7B), mRNA.	1366						membrane|myosin filament	ATP binding|actin binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			TGAGCTGCAGCGGCTGCTGTC	0.657000														9			3		0	0	1	0	0
CBS	875	broad.mit.edu	37	21	44488723	44488723	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:44488723G>A	uc002zcu.2	-	3	457	c.212C>T	c.(211-213)gCa>gTa	p.A71V	CBS_uc002zcs.1_5'Flank|CBS_uc002zct.2_Missense_Mutation_p.A71V|CBS_uc002zcw.3_Missense_Mutation_p.A71V|CBS_uc002zcv.2_Missense_Mutation_p.A71V	NM_000071	NP_001171480	P35520	CBS_HUMAN	Homo sapiens cystathionine-beta-synthase (CBS), transcript variant 1, mRNA.	71					L-cysteine catabolic process|L-serine catabolic process|cysteine biosynthetic process from serine|cysteine biosynthetic process via cystathionine|homocysteine catabolic process|hydrogen sulfide biosynthetic process	cytosol|nucleolus	cystathionine beta-synthase activity|heme binding|protein homodimerization activity|pyridoxal phosphate binding|ubiquitin protein ligase binding	p.P70Q(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(8)	17					L-Cysteine(DB00151)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|S-Adenosylmethionine(DB00118)	TGGAGATTTTGCCCTGAAACA	0.418000														32			13		0	0	1	0	0
ZNF236	7776	broad.mit.edu	37	18	74631731	74631731	+	Splice_Site	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:74631731G>T	uc002lmi.3	+	20	3467	c.3269_splice	c.e20-1	p.D1090_splice	ZNF236_uc002lmj.3_Splice_Site	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN	Homo sapiens zinc finger protein 236 (ZNF236), mRNA.	1090					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		ATTTTGTGTAGACATTTGTAT	0.373000														83			21		1.2644e-06	1.43864e-06	1	1	0
C9	735	broad.mit.edu	37	5	39341683	39341683	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:39341683G>A	uc003jlv.4	-	2	392	c.303C>T	c.(301-303)tgC>tgT	p.C101C		NM_001737	NP_001728	P02748	CO9_HUMAN	Homo sapiens complement component 9 (C9), mRNA.	101	LDL-receptor class A.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			AGTCATTTCCGCAGTCATCCT	0.448000														32			16		0	0	1	0	0
PAN2	9924	broad.mit.edu	37	12	56715903	56715903	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56715903T>C	uc001skx.3	-	19	3136	c.2759A>G	c.(2758-2760)tAt>tGt	p.Y920C	PAN2_uc001skw.3_Missense_Mutation_p.Y68C|PAN2_uc001sky.3_Missense_Mutation_p.Y916C|PAN2_uc001skz.3_Missense_Mutation_p.Y919C	NM_001127460	NP_001120932	Q504Q3	PAN2_HUMAN	Homo sapiens PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae) (PAN2), transcript variant 1, mRNA.	920					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						TTTGACATAATAAAGGATTGC	0.398000														84			56		0	0	1	0	0
ARHGEF12	23365	broad.mit.edu	37	11	120348158	120348158	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:120348158G>A	uc001pxl.2	+	35	3790	c.3455G>A	c.(3454-3456)gGa>gAa	p.G1152E	ARHGEF12_uc009zat.3_Missense_Mutation_p.G1133E|ARHGEF12_uc010rzn.1_Missense_Mutation_p.G1049E|ARHGEF12_uc009zau.1_Missense_Mutation_p.G1049E	NM_015313	NP_056128	Q9NZN5	ARHGC_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 12 (ARHGEF12), transcript variant 1, mRNA.	1152					G-protein coupled receptor protein signaling pathway|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	p.G1152R(1)		NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		CTCTACAGAGGAGATAATGAT	0.353000			T	MLL	AML									31			18		0	0	1	0	0
TNKS1BP1	85456	broad.mit.edu	37	11	57077271	57077271	+	Missense_Mutation	SNP	C	T	T	rs148640580	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:57077271C>T	uc001njr.3	-	4	3226	c.2914G>A	c.(2914-2916)Gcc>Acc	p.A972T	TNKS1BP1_uc001njs.3_Missense_Mutation_p.A972T|TNKS1BP1_uc009ymd.1_Missense_Mutation_p.A423T	NM_033396	NP_203754	Q9C0C2	TB182_HUMAN	Homo sapiens tankyrase 1 binding protein 1, 182kDa (TNKS1BP1), mRNA.	972	Acidic.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				CTGTCCTGGGCGTCAAGGGTC	0.577000														90			28		0	0	1	0	0
PYGB	5834	broad.mit.edu	37	20	25255257	25255257	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:25255257C>T	uc002wup.3	+	4	667	c.558C>T	c.(556-558)taC>taT	p.Y186Y		NM_002862	NP_002853	P11216	PYGB_HUMAN	Homo sapiens phosphorylase, glycogen; brain (PYGB), mRNA.	186					glucose metabolic process|glycogen catabolic process	cytoplasm	glycogen phosphorylase activity|pyridoxal phosphate binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31					Pyridoxal Phosphate(DB00114)	GGCTGCGCTACGGCAACCCCT	0.647000														53			40		0	0	1	0	0
ORC3	23595	broad.mit.edu	37	6	88331704	88331704	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:88331704G>A	uc003pmg.3	+	10	1260	c.1158G>A	c.(1156-1158)gcG>gcA	p.A386A	ORC3_uc011dzl.2_Silent_p.A386A|ORC3_uc011dzm.2_Silent_p.A386A|ORC3_uc011dzn.2_Non-coding_Transcript|ORC3_uc003pmh.3_Silent_p.A386A|ORC3_uc011dzp.2_Silent_p.A243A|ORC3_uc011dzo.2_Silent_p.A243A	NM_181837	NP_862820	Q9UBD5	ORC3_HUMAN	Homo sapiens origin recognition complex, subunit 3 (ORC3), transcript variant 1, mRNA.	386					DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint	nuclear origin of replication recognition complex|nucleoplasm	DNA replication origin binding|protein binding	p.A386V(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	28						AGCAAGTTGCGCTCTTGACCA	0.313000														80			7		0	0	1	0	0
C9orf71	169693	broad.mit.edu	37	9	71152347	71152347	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:71152347G>A	uc004agt.3	-	1	394	c.341C>T	c.(340-342)gCa>gTa	p.A114V	AK130904_uc004ags.1_Non-coding_Transcript	NM_153237	NP_694969	Q8N6L7	CI071_HUMAN	Homo sapiens chromosome 9 open reading frame 71 (C9orf71), mRNA.	114						integral to membrane		p.P113T(1)		endometrium(1)|lung(2)|prostate(1)	4						CTCTCTCTCTGCAGGACAGCT	0.512000														27			15		0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10432210	10432210	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:10432210G>A	uc010coi.3	-	26	3669	c.3541C>T	c.(3541-3543)Cgc>Tgc	p.R1181C	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.R1181C|MYH2_uc010coj.3_Intron	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	1181					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						AGGTCCCTGCGCATTTTCTGG	0.592000														76			41		0	0	1	0	0
NFIA	4774	broad.mit.edu	37	1	61848933	61848933	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:61848933A>C	uc010oos.2	+	7	1188	c.1106A>C	c.(1105-1107)aAg>aCg	p.K369T	NFIA_uc001czy.3_Missense_Mutation_p.K316T|NFIA_uc001czw.3_Missense_Mutation_p.K324T|NFIA_uc001czv.3_Missense_Mutation_p.K324T	NM_001145512	NP_001138984	Q12857	NFIA_HUMAN	Homo sapiens nuclear factor I/A (NFIA), transcript variant 4, mRNA.	324					DNA replication|viral genome replication	cell junction|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding		NFIA/EHF(2)	endometrium(1)|kidney(2)|large_intestine(8)|lung(20)|pancreas(1)|prostate(1)|skin(1)	34						ACCACACTGAAGAAGTCGGAG	0.483000														80			35		0	0	1	0	0
OR2L2	26246	broad.mit.edu	37	1	248202053	248202053	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:248202053G>A	uc001idw.3	+	0	580	c.484G>A	c.(484-486)Gca>Aca	p.A162T	OR2L13_uc001ids.3_Intron	NM_001004686	NP_001004686	Q8NH16	OR2L2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 2 (OR2L2), mRNA.	162					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			CACAGTATATGCACTCTGTAT	0.428000														180			16		0	0	1	0	0
SLC45A3	85414	broad.mit.edu	37	1	205628647	205628647	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:205628647C>T	uc001hda.1	-	4	1716	c.1377G>A	c.(1375-1377)gcG>gcA	p.A459A	SLC45A3_uc010prn.1_Intron|SLC45A3_uc010pro.1_Intron|SLC45A3_uc010prp.1_Intron|SLC45A3_uc010prq.1_Intron	NM_033102	NP_149093	Q96JT2	S45A3_HUMAN	Homo sapiens solute carrier family 45, member 3 (SLC45A3), mRNA.	459					transmembrane transport	integral to membrane		p.A459A(2)	SLC45A3/BRAF(2)|SLC45A3/ELK4(18)|SLC45A3/ETV1(3)|SLC45A3/ETV5_ENST00000306376(2)|SLC45A3/ERG(50)	cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|ovary(3)|prostate(5)	21	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			CCCCGCAGAGCGCGGGTGGAG	0.682000			T	"""ETV1, ETV5, ELK4, ERG"""	prostate						OREG0014161	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		22			11		0	0	1	0	0
FAM59A	64762	broad.mit.edu	37	18	29848396	29848396	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:29848396C>T	uc002kxl.3	-	5	2125	c.2069G>A	c.(2068-2070)aGc>aAc	p.S690N	FAM59A_uc002kxk.2_Missense_Mutation_p.S689N	NM_001242409	NP_001229338	Q9H706	FA59A_HUMAN	Homo sapiens family with sequence similarity 59, member A (FAM59A), transcript variant 1, mRNA.	690										endometrium(9)|kidney(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	36						AGAGACGCTGCTACTGAATTC	0.537000														64			13		0	0	1	0	0
ATG16L1	55054	broad.mit.edu	37	2	234201038	234201038	+	Missense_Mutation	SNP	C	A	A	rs144457166		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:234201038C>A	uc002vty.3	+	15	1843	c.1586C>A	c.(1585-1587)cCt>cAt	p.P529H	ATG16L1_uc021vyl.1_Missense_Mutation_p.P413H|ATG16L1_uc002vub.3_Missense_Mutation_p.P387H|ATG16L1_uc002vtz.3_Missense_Mutation_p.P350H|ATG16L1_uc002vud.4_Missense_Mutation_p.P445H|ATG16L1_uc002vua.3_Missense_Mutation_p.P510H|ATG16L1_uc002vtx.2_Missense_Mutation_p.P366H	NM_030803	NP_001177196	Q676U5	A16L1_HUMAN	Homo sapiens ATG16 autophagy related 16-like 1 (S. cerevisiae) (ATG16L1), transcript variant 1, mRNA.	529				P -> T (in Ref. 5; BAB55412).	autophagic vacuole assembly|protein homooligomerization|protein transport	autophagic vacuole|pre-autophagosomal structure membrane	protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(7)|prostate(3)|skin(1)	25		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0539)		Epithelial(121;1.53e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000379)|LUSC - Lung squamous cell carcinoma(224;0.00619)|Lung(119;0.00732)|GBM - Glioblastoma multiforme(43;0.11)		TTCAGTGCACCTGGGTTCAAG	0.562000														21			8		0.00448238	0.0046769	1	1	0
CAMK1D	57118	broad.mit.edu	37	10	12595236	12595236	+	Silent	SNP	C	T	T	rs141516444		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:12595236C>T	uc001ilo.3	+	1	340	c.105C>T	c.(103-105)tcC>tcT	p.S35S	CAMK1D_uc001iln.3_Silent_p.S35S	NM_153498	NP_705718	Q8IU85	KCC1D_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase ID (CAMK1D), transcript variant 2, mRNA.	35	Protein kinase.					calcium- and calmodulin-dependent protein kinase complex|cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	p.S35S(3)		endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)	16				GBM - Glioblastoma multiforme(1;3.16e-05)		GGGCCTTTTCCGAAGTGGTTT	0.468000														68			38		0	0	1	0	0
ZBTB41	360023	broad.mit.edu	37	1	197157461	197157461	+	Missense_Mutation	SNP	G	A	A	rs146939360	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:197157461G>A	uc001gtx.1	-	3	1576	c.1507C>T	c.(1507-1509)Cgg>Tgg	p.R503W	ZBTB41_uc009wyz.1_Non-coding_Transcript	NM_194314	NP_919290	Q5SVQ8	ZBT41_HUMAN	Homo sapiens zinc finger and BTB domain containing 41 (ZBTB41), mRNA.	503					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(11)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	40						CGAGCAAACCGTGATTTAAAA	0.348000														63			32		0	0	1	0	0
GCOM1	145781	broad.mit.edu	37	15	58004371	58004371	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:58004371G>T	uc002aem.3	+	12	1625	c.1494G>T	c.(1492-1494)caG>caT	p.Q498H	GCOM1_uc002aep.3_Non-coding_Transcript|GCOM1_uc010bfx.3_Non-coding_Transcript|GCOM1_uc002aeq.3_Non-coding_Transcript|GCOM1_uc002aen.3_Non-coding_Transcript|GCOM1_uc010bfy.3_Non-coding_Transcript|GCOM1_uc002aeo.3_Intron|GCOM1_uc002aes.3_Missense_Mutation_p.Q85H|GCOM1_uc010ugu.2_Non-coding_Transcript|GCOM1_uc002aet.4_Missense_Mutation_p.Q316H|GCOM1_uc002aeu.4_Missense_Mutation_p.Q159H	NM_001018090	NP_001018100	P0CAP1	GCOM1_HUMAN	Homo sapiens GRINL1A complex locus 1 (GCOM1), transcript variant 1, mRNA.	383					intracellular signal transduction	I band|extrinsic to internal side of plasma membrane				endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1)	18						AGAAACAGCAGAAACAGAATT	0.428000														27			13		1.15088e-07	1.32926e-07	1	1	0
DMRT3	58524	broad.mit.edu	37	9	990083	990083	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:990083A>G	uc003zgw.1	+	1	535	c.497A>G	c.(496-498)aAt>aGt	p.N166S		NM_021240	NP_067063	Q9NQL9	DMRT3_HUMAN	Homo sapiens doublesex and mab-3 related transcription factor 3 (DMRT3), mRNA.	166					cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		TCGGCAGACAATACAGAGGTC	0.493000														35			21		0	0	1	0	0
CLTC	1213	broad.mit.edu	37	17	57762508	57762508	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:57762508G>A	uc002ixr.1	+	28	4981	c.4538G>A	c.(4537-4539)aGa>aAa	p.R1513K	CLTC_uc002ixp.3_Missense_Mutation_p.R1509K|CLTC_uc002ixq.1_Missense_Mutation_p.R1509K	NM_004859	NP_004850	Q00610	CLH1_HUMAN	Homo sapiens clathrin, heavy chain (Hc) (CLTC), mRNA.	1509	Heavy chain arm.|Involved in binding clathrin light chain (By similarity).|Proximal segment.				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					GAGTTCAGGAGAATTGCTGCT	0.418000			T	"""ALK, TFE3"""	"""ALCL, renal """									72			43		0	0	1	0	0
DZIP1	22873	broad.mit.edu	37	13	96237064	96237064	+	Missense_Mutation	SNP	G	A	A	rs149105659		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:96237064G>A	uc001vmk.3	-	21	3302	c.2450C>T	c.(2449-2451)gCg>gTg	p.A817V	DZIP1_uc001vmj.3_Missense_Mutation_p.A293V|DZIP1_uc001vml.3_Missense_Mutation_p.A798V|DZIP1_uc001vmm.3_5'Flank	NM_198968	NP_945319	Q86YF9	DZIP1_HUMAN	Homo sapiens DAZ interacting protein 1 (DZIP1), transcript variant 2, mRNA.	817					germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			TTCATTTTTCGCAGGTGGAGG	0.458000														44			39		0	0	1	0	0
ENPP7	339221	broad.mit.edu	37	17	77709177	77709177	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:77709177C>T	uc002jxa.3	+	2	755	c.735C>T	c.(733-735)tcC>tcT	p.S245S		NM_178543	NP_848638	Q6UWV6	ENPP7_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 7 (ENPP7), mRNA.	245					negative regulation of DNA replication|negative regulation of cell proliferation|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			TCATCACATCCGACCACGGCA	0.617000														37			22		0	0	1	0	0
SHROOM2	357	broad.mit.edu	37	X	9900704	9900704	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:9900704G>A	uc004csu.1	+	5	3471	c.3381G>A	c.(3379-3381)ccG>ccA	p.P1127P	SHROOM2_uc004csv.2_5'UTR|SHROOM2_uc011mic.1_5'UTR|SHROOM2_uc004csw.1_5'UTR	NM_001649	NP_001640	Q13796	SHRM2_HUMAN	Homo sapiens shroom family member 2 (SHROOM2), mRNA.	1127					apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				AGGACACCCCGAAGGCCACTG	0.657000														29			19		0	0	1	0	0
GALNT11	63917	broad.mit.edu	37	7	151807673	151807673	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:151807673A>G	uc010lqg.1	+	6	1253	c.1023A>G	c.(1021-1023)ggA>ggG	p.G341G	GALNT11_uc011kvm.1_Silent_p.G260G|GALNT11_uc003wku.2_Silent_p.G341G|GALNT11_uc003wkw.1_Silent_p.G89G	NM_022087	NP_071370	Q8NCW6	GLT11_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 11 (GalNAc-T11) (GALNT11), mRNA.	341	Catalytic subdomain B.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|prostate(5)|skin(2)	27	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.214)	OV - Ovarian serous cystadenocarcinoma(82;0.00168)	UCEC - Uterine corpus endometrioid carcinoma (81;0.177)|BRCA - Breast invasive adenocarcinoma(188;0.0932)		ATGAACTTGGACAGTATGATA	0.368000														131			168		0	0	1	0	0
LMCD1	29995	broad.mit.edu	37	3	8590439	8590439	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:8590439C>T	uc003bqq.3	+	3	687	c.573C>T	c.(571-573)agC>agT	p.S191S	LMCD1_uc011atd.2_Silent_p.S118S|LMCD1_uc011ate.2_Silent_p.S79S|LMCD1_uc011atf.1_Silent_p.S118S	NM_014583	NP_055398	Q9NZU5	LMCD1_HUMAN	Homo sapiens LIM and cysteine-rich domains 1 (LMCD1), mRNA.	191	PET.				positive regulation of calcineurin-NFAT signaling pathway|regulation of cardiac muscle hypertrophy|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus	transcription corepressor activity|zinc ion binding			breast(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)	16				OV - Ovarian serous cystadenocarcinoma(96;0.124)		AATATAAGAGCGAGGCCCTCG	0.587000														68			34		0	0	1	0	0
OSBPL7	114881	broad.mit.edu	37	17	45886548	45886548	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:45886548G>A	uc002ilx.1	-	19	2267	c.2064C>T	c.(2062-2064)ggC>ggT	p.G688G	OSBPL7_uc002ilw.1_Silent_p.G250G	NM_145798	NP_665741	Q9BZF2	OSBL7_HUMAN	Homo sapiens oxysterol binding protein-like 7 (OSBPL7), transcript variant 1, mRNA.	688					lipid transport		lipid binding	p.G688G(2)		autonomic_ganglia(1)|endometrium(6)|kidney(2)|large_intestine(5)|liver(2)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						TGAGCACAGCGCCCTGCACCT	0.647000														30			23		0	0	1	0	0
GPM6A	2823	broad.mit.edu	37	4	176556060	176556060	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:176556060G>A	uc003iuf.3	-	6	1637	c.833C>T	c.(832-834)aCa>aTa	p.T278I	GPM6A_uc011ckj.2_Missense_Mutation_p.T271I|GPM6A_uc003iug.3_Missense_Mutation_p.T278I|GPM6A_uc003iuh.3_Missense_Mutation_p.T267I	NM_201591	NP_963885	P51674	GPM6A_HUMAN	Homo sapiens glycoprotein M6A (GPM6A), transcript variant 2, mRNA.	278						cell surface|integral to membrane				NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33		Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388)		ATGCATTTATGTGTATGCATT	0.433000														52			6		0	0	1	0	0
ZNF282	8427	broad.mit.edu	37	7	148909549	148909549	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:148909549C>T	uc003wfm.3	+	5	1157	c.1052C>T	c.(1051-1053)aCg>aTg	p.T351M	ZNF282_uc011kun.1_Missense_Mutation_p.T351M|ZNF282_uc003wfn.3_Missense_Mutation_p.T291M|ZNF282_uc003wfo.3_Intron	NM_003575	NP_003566	Q9UDV7	ZN282_HUMAN	Homo sapiens zinc finger protein 282 (ZNF282), mRNA.	351					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			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)		GATATTCCCACGGATCCCAAT	0.433000														18			4		0	0	1	0	0
XRCC2	7516	broad.mit.edu	37	7	152346195	152346195	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:152346195G>A	uc003wld.3	-	2	461	c.375C>T	c.(373-375)caC>caT	p.H125H		NM_005431	NP_005422	O43543	XRCC2_HUMAN	Homo sapiens X-ray repair complementing defective repair in Chinese hamster cells 2 (XRCC2), mRNA.	125					meiosis	nucleus	ATP binding|DNA binding|DNA-dependent ATPase activity			NS(1)|breast(1)|large_intestine(5)|liver(1)|lung(1)|prostate(2)	11		all_hematologic(28;0.0592)|Prostate(32;0.081)	OV - Ovarian serous cystadenocarcinoma(82;0.0423)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0429)		TAAGAAGTAAGTGGGTGCTAC	0.388000								Homologous recombination						38			49		0	0	1	0	0
NPY1R	4886	broad.mit.edu	37	4	164246906	164246906	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:164246906T>C	uc003iqm.2	-	2	1169	c.704A>G	c.(703-705)tAt>tGt	p.Y235C	NPY1R_uc021xtv.1_3'UTR|NPY1R_uc011cjj.2_5'UTR	NM_000909	NP_000900	P25929	NPY1R_HUMAN	Homo sapiens neuropeptide Y receptor Y1 (NPY1R), mRNA.	235					inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding			breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TAGGCGTATATATATCTATGG	0.313000														32			4		0	0	1	0	0
BCAR3	8412	broad.mit.edu	37	1	94048358	94048358	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:94048358C>A	uc001dpz.3	-	6	1461	c.1186G>T	c.(1186-1188)Gac>Tac	p.D396Y	BCAR3_uc001dqa.3_Missense_Mutation_p.D396Y|BCAR3_uc001dqb.3_Missense_Mutation_p.D396Y|BCAR3_uc001dpx.4_Missense_Mutation_p.D72Y|BCAR3_uc001dpy.3_Missense_Mutation_p.D305Y|BCAR3_uc009wdm.1_Missense_Mutation_p.D72Y	NM_003567	NP_003558	O75815	BCAR3_HUMAN	Homo sapiens breast cancer anti-estrogen resistance 3 (BCAR3), mRNA.	396					response to drug|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		AGTTGACTGTCTGATCCCCTC	0.637000														70			7		5.18039e-06	5.80246e-06	1	1	0
USP32	84669	broad.mit.edu	37	17	58275770	58275770	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:58275770C>T	uc002iyo.1	-	26	3571	c.3285G>A	c.(3283-3285)aaG>aaA	p.K1095K	USP32_uc002iyn.1_Silent_p.K765K	NM_032582	NP_115971	Q8NFA0	UBP32_HUMAN	Homo sapiens ubiquitin specific peptidase 32 (USP32), mRNA.	1095					protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			TGGGGCGATTCTTCTGAGATG	0.443000														40			25		0	0	1	0	0
JMJD7-PLA2G4B	8681	broad.mit.edu	37	15	42138145	42138145	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:42138145C>T	uc001zoo.4	+	20	2233	c.2193C>T	c.(2191-2193)atC>atT	p.I731I	JMJD7-PLA2G4B_uc010bcn.3_Silent_p.I731I|JMJD7-PLA2G4B_uc001zoq.4_Silent_p.I201I|JMJD7-PLA2G4B_uc010bco.3_Silent_p.I500I|JMJD7-PLA2G4B_uc001zor.1_Silent_p.I201I	NM_005090	NP_005081	P0C869	PA24B_HUMAN	Homo sapiens JMJD7-PLA2G4B readthrough (JMJD7-PLA2G4B), transcript variant 1, mRNA.	500	PLA2c.				arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition	cytosol|early endosome membrane|extracellular region|mitochondrial membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity			endometrium(3)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(2)	25						TTTCAGGTATCTGGAGCAACC	0.612000														38			23		0	0	1	0	0
NKTR	4820	broad.mit.edu	37	3	42674295	42674295	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:42674295A>G	uc003clo.3	+	8	900	c.753A>G	c.(751-753)aaA>aaG	p.K251K	NKTR_uc003clm.1_5'UTR|NKTR_uc011azp.2_Silent_p.K141K|NKTR_uc003clp.3_5'UTR|NKTR_uc003clq.1_Silent_p.K141K|NKTR_uc003clr.1_5'UTR|NKTR_uc003cls.3_5'UTR	NM_005385	NP_005376	P30414	NKTR_HUMAN	Homo sapiens natural killer-tumor recognition sequence (NKTR), mRNA.	251					protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		CAAGGAATAAACATGCAATGA	0.383000														26			6		0	0	1	0	0
SYNM	23336	broad.mit.edu	37	15	99670344	99670344	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:99670344G>A	uc002bup.3	+	4	1896	c.1776G>A	c.(1774-1776)ccG>ccA	p.P592P	SYNM_uc002buo.3_Silent_p.P592P|SYNM_uc002buq.3_Intron	NM_145728	NP_663780	O15061	SYNEM_HUMAN	Homo sapiens synemin, intermediate filament protein (SYNM), transcript variant A, mRNA.	593	Tail.				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						AGGTGTCCCCGAAAGGTTTGC	0.562000														17			19		0	0	1	0	0
USP51	158880	broad.mit.edu	37	X	55515233	55515233	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:55515233G>A	uc022bxu.1	-	0	140	c.140C>T	c.(139-141)gCg>gTg	p.A47V	USP51_uc004dun.2_Missense_Mutation_p.A47V	NM_201286	NP_958443	Q70EK9	UBP51_HUMAN	Homo sapiens ubiquitin specific peptidase 51 (USP51), mRNA.	47					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding	p.K46R(1)		NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30						TCTCGAAGACGCCTTCGTAGC	0.667000														13			9		0	0	1	0	0
CYBRD1	79901	broad.mit.edu	37	2	172398116	172398116	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:172398116C>T	uc002ugy.4	+	1	405	c.215C>T	c.(214-216)cCg>cTg	p.P72L	CYBRD1_uc002ugz.4_Intron	NM_024843	NP_079119	Q53TN4	CYBR1_HUMAN	Homo sapiens cytochrome b reductase 1 (CYBRD1), transcript variant 1, mRNA.	72	Cytochrome b561.				cellular iron ion homeostasis|electron transport chain|transmembrane transport	integral to membrane	ferric-chelate reductase activity|metal ion binding			endometrium(1)|kidney(1)|large_intestine(3)|liver(2)|lung(3)	10						TACAGACTGCCGTGGACCTGG	0.438000														48			19		0	0	1	0	0
MAPK8IP3	23162	broad.mit.edu	37	16	1797132	1797132	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:1797132G>A	uc010uvl.2	+	5	970	c.850G>A	c.(850-852)Gcc>Acc	p.A284T	MAPK8IP3_uc002cmj.1_Non-coding_Transcript|MAPK8IP3_uc002cmk.3_Missense_Mutation_p.A283T|MAPK8IP3_uc002cml.3_Missense_Mutation_p.A283T|MAPK8IP3_uc021tah.1_Missense_Mutation_p.A283T	NM_015133	NP_055948	Q9UPT6	JIP3_HUMAN	Homo sapiens mitogen-activated protein kinase 8 interacting protein 3 (MAPK8IP3), transcript variant 1, mRNA.	283					vesicle-mediated transport	Golgi membrane	MAP-kinase scaffold activity|kinesin binding|protein kinase binding			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						CGTGCCCTCGGCCGCCGTCAC	0.667000														36			24		0	0	1	0	0
PRPS2	5634	broad.mit.edu	37	X	12828159	12828159	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:12828159G>A	uc004cva.3	+	3	576	c.433G>A	c.(433-435)Gtg>Atg	p.V145M	PRPS2_uc004cvb.3_Missense_Mutation_p.V142M|PRPS2_uc010nec.3_Missense_Mutation_p.V78M	NM_001039091	NP_001034180	P11908	PRPS2_HUMAN	Homo sapiens phosphoribosyl pyrophosphate synthetase 2 (PRPS2), transcript variant 1, mRNA.	142					nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	16						TGATATTCCTGTGGATAATTT	0.428000														28			13		0	0	1	0	0
TBX6	6911	broad.mit.edu	37	16	30097613	30097613	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:30097613C>T	uc010veh.2	-	8	1304	c.1244G>A	c.(1243-1245)gGc>gAc	p.G415D	BOLA2_uc010bzb.1_Intron	NM_004608	NP_004599	O95947	TBX6_HUMAN	Homo sapiens T-box 6 (TBX6), mRNA.	415					anatomical structure morphogenesis|mesoderm development|multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)	9						AGGGAAGGGGCCCCCTTGGAG	0.642000														19			19		0	0	1	0	0
MKL1	57591	broad.mit.edu	37	22	40825629	40825629	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:40825629G>A	uc003ayv.1	-	3	489	c.282C>T	c.(280-282)agC>agT	p.S94S	MKL1_uc010gyf.1_Silent_p.S94S|MKL1_uc003ayw.1_Silent_p.S94S|MKL1_uc010gye.1_Silent_p.S94S	NM_020831	NP_065882	Q969V6	MKL1_HUMAN	Homo sapiens megakaryoblastic leukemia (translocation) 1 (MKL1), mRNA.	94	Mediates interaction with SCAI and ACTB (By similarity).				positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						CTTCCTTCAGGCTGGACTCAA	0.572000			T	RBM15	acute megakaryocytic leukemia									22			19		0	0	1	0	0
SGK223	157285	broad.mit.edu	37	8	8176527	8176527	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:8176527C>T	uc003wsh.4	-	4	3358	c.3358G>A	c.(3358-3360)Gtg>Atg	p.V1120M		NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN	Homo sapiens homolog of rat pragma of Rnd2 (SGK223), mRNA.	1120	Protein kinase.						ATP binding|non-membrane spanning protein tyrosine kinase activity										AGGAAGCACACGCGCCGCTCG	0.667000														72			43		0	0	1	0	0
HTR1F	3355	broad.mit.edu	37	3	88040645	88040645	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:88040645A>C	uc003dqr.2	+	1	904	c.746A>C	c.(745-747)aAg>aCg	p.K249T	HTR1F_uc021xbd.1_Missense_Mutation_p.K249T	NM_000866	NP_000857	P30939	5HT1F_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1F (HTR1F), mRNA.	249					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	serotonin binding|serotonin receptor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(8;0.147)	Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664)	Eletriptan(DB00216)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315)	GTACTAGAAAAGTCTTTATCT	0.408000														36			20		0	0	1	0	0
FAM46D	169966	broad.mit.edu	37	X	79699143	79699143	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:79699143C>T	uc022bzm.1	+	0	1105	c.1105C>T	c.(1105-1107)Cca>Tca	p.P369S	FAM46D_uc004edl.1_Missense_Mutation_p.P369S|FAM46D_uc004edm.2_Missense_Mutation_p.P369S	NM_152630	NP_689843	Q8NEK8	FA46D_HUMAN	Homo sapiens family with sequence similarity 46, member D (FAM46D), transcript variant 2, mRNA.	369								p.P369Q(1)		kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						AATACCTGAGCCACCCCCCGT	0.413000														18			14		0	0	1	0	0
AMOT	154796	broad.mit.edu	37	X	112054488	112054488	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:112054488C>A	uc004epr.3	-	2	1544	c.1526G>T	c.(1525-1527)aGg>aTg	p.R509M	AMOT_uc004eps.3_Missense_Mutation_p.R100M|AMOT_uc004ept.1_Missense_Mutation_p.R509M	NM_001113490	NP_573572	Q4VCS5	AMOT_HUMAN	Homo sapiens angiomotin (AMOT), transcript variant 1, mRNA.	509					actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity	p.R100M(1)|p.R509M(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						TCTCAGATCCCTGTTGAAATC	0.502000														237			21		3.62473e-10	4.36059e-10	1	1	0
POLR1A	25885	broad.mit.edu	37	2	86254575	86254575	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:86254575G>T	uc002sqs.3	-	33	5513	c.5134C>A	c.(5134-5136)Ctg>Atg	p.L1712M	POLR1A_uc010ytb.2_Missense_Mutation_p.L1078M	NM_015425	NP_056240	O95602	RPA1_HUMAN	Homo sapiens polymerase (RNA) I polypeptide A, 194kDa (POLR1A), mRNA.	1712					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						AGCTCGAACAGGCCTGTCCCG	0.612000														58			32		3.76114e-14	4.70443e-14	1	1	0
SETD7	80854	broad.mit.edu	37	4	140468102	140468102	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:140468102G>A	uc003ihw.3	-	1	428	c.142C>T	c.(142-144)Cgg>Tgg	p.R48W	SETD7_uc003ihx.3_Missense_Mutation_p.R48W	NM_030648	NP_085151	Q8WTS6	SETD7_HUMAN	Homo sapiens SET domain containing (lysine methyltransferase) 7 (SETD7), mRNA.	48					peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	histone-lysine N-methyltransferase activity|p53 binding			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	8	all_hematologic(180;0.156)					AACTTCCCCCGTCCGTTCTTT	0.458000														70			17		0	0	1	0	0
SLFN5	162394	broad.mit.edu	37	17	33585854	33585854	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:33585854G>A	uc002hjf.4	+	1	262	c.145G>A	c.(145-147)Gct>Act	p.A49T	SLFN5_uc002hje.3_Missense_Mutation_p.A49T|SLFN5_uc010wcg.2_Missense_Mutation_p.A49T	NM_144975	NP_659412	Q08AF3	SLFN5_HUMAN	Homo sapiens schlafen family member 5 (SLFN5), mRNA.	49					cell differentiation		ATP binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	34		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)		AGCAGTATGTGCTCTGCTGAA	0.488000														35			33		0	0	1	0	0
RFTN2	130132	broad.mit.edu	37	2	198508985	198508985	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:198508985G>A	uc002uuo.4	-	2	737	c.335C>T	c.(334-336)tCg>tTg	p.S112L		NM_144629	NP_653230	Q52LD8	RFTN2_HUMAN	Homo sapiens raftlin family member 2 (RFTN2), mRNA.	112						plasma membrane		p.S112S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(13)|urinary_tract(3)	30						GGGTGCTGCCGAATTCTTTGG	0.453000														38			17		0	0	1	0	0
LDOC1L	84247	broad.mit.edu	37	22	44892750	44892750	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:44892750C>T	uc003beu.1	-	1	1024	c.687G>A	c.(685-687)gcG>gcA	p.A229A	LDOC1L_uc021wrd.1_Silent_p.A229A	NM_032287	NP_115663	Q6ICC9	LDOCL_HUMAN	Homo sapiens leucine zipper, down-regulated in cancer 1-like (LDOC1L), mRNA.	229										breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(3)|prostate(2)	11		Ovarian(80;0.024)|all_neural(38;0.0416)		LUAD - Lung adenocarcinoma(64;0.0161)		GCAGGGCTGGCGCTGGACTAG	0.617000														59			36		0	0	1	0	0
LPO	4025	broad.mit.edu	37	17	56342180	56342180	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:56342180G>T	uc002ivt.3	+	9	1680	c.1364G>T	c.(1363-1365)aGa>aTa	p.R455I	LPO_uc010wns.2_Missense_Mutation_p.R396I|LPO_uc010dcp.3_Missense_Mutation_p.R372I|LPO_uc010dcq.3_Missense_Mutation_p.R126I|LPO_uc010dcr.3_Missense_Mutation_p.R18I	NM_006151	NP_006142	P22079	PERL_HUMAN	Homo sapiens lactoperoxidase (LPO), transcript variant 1, mRNA.	455					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	p.R455fs*66(2)		breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						GTGGATCCCAGAATTTCCAAT	0.498000														41			5		0.000602214	0.000641151	1	1	0
URB2	9816	broad.mit.edu	37	1	229779332	229779332	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:229779332C>A	uc001hts.1	+	4	3823	c.3687C>A	c.(3685-3687)gcC>gcA	p.A1229A	URB2_uc009xfd.1_Silent_p.A1229A	NM_014777	NP_055592	Q14146	URB2_HUMAN	Homo sapiens URB2 ribosome biogenesis 2 homolog (S. cerevisiae) (URB2), mRNA.	1229						nucleolus				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						ATTTGGGAGCCTTGTTCACCC	0.453000														122			15		2.23348e-06	2.52156e-06	1	1	0
BFAR	51283	broad.mit.edu	37	16	14761613	14761613	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:14761613T>C	uc002dco.3	+	7	1563	c.1282T>C	c.(1282-1284)Tac>Cac	p.Y428H	BFAR_uc010uzh.2_Missense_Mutation_p.Y300H	NM_016561	NP_057645	Q9NZS9	BFAR_HUMAN	Homo sapiens bifunctional apoptosis regulator (BFAR), mRNA.	428					anti-apoptosis|apoptosis	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	structural molecule activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	11						CTGGGCCCTGTACTTTAACCC	0.493000														73			56		0	0	1	0	0
TNR	7143	broad.mit.edu	37	1	175299312	175299312	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:175299312G>A	uc001gkp.1	-	18	3772	c.3691C>T	c.(3691-3693)Cgg>Tgg	p.R1231W	TNR_uc009wwu.1_Missense_Mutation_p.R1231W	NM_003285	NP_003276	Q92752	TENR_HUMAN	Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA.	1231	Fibrinogen C-terminal.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		p.M1230K(1)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					TGGCCATCCCGCATGTCCACG	0.577000														22			24		0	0	1	0	0
ANAPC5	51433	broad.mit.edu	37	12	121756220	121756220	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:121756220G>A	uc001uag.3	-	14	1875	c.1753C>T	c.(1753-1755)Ctg>Ttg	p.L585L	ANAPC5_uc010szu.2_Silent_p.L251L|ANAPC5_uc001uae.3_Silent_p.L149L|ANAPC5_uc010szv.2_Silent_p.L187L|ANAPC5_uc001uaf.3_Intron|ANAPC5_uc001uah.3_Silent_p.L473L	NM_016237	NP_057321	Q9UJX4	APC5_HUMAN	Homo sapiens anaphase promoting complex subunit 5 (ANAPC5), transcript variant 1, mRNA.	585					G2/M transition of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity			breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GCCACGGACAGTAGGACACTG	0.542000														31			20		0	0	1	0	0
RPS3	6188	broad.mit.edu	37	11	75115230	75115230	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:75115230C>T	uc001owh.3	+	4	547	c.517C>T	c.(517-519)Cgc>Tgc	p.R173C	SNORD15B_uc001owl.1_5'Flank	NM_001005	NP_000996	P23396	RS3_HUMAN	Homo sapiens ribosomal protein S3 (RPS3), mRNA.	173					activation of caspase activity|endocrine pancreas development|induction of apoptosis|negative regulation of DNA repair|negative regulation of NF-kappaB transcription factor activity|response to DNA damage stimulus|translational elongation|translational initiation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleus|ruffle membrane	DNA-(apurinic or apyrimidinic site) lyase activity|NF-kappaB binding|damaged DNA binding|endonuclease activity|iron-sulfur cluster binding|mRNA binding|protein kinase binding|structural constituent of ribosome			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	6						CACTGCTGTGCGCCACGTGTT	0.507000														14			17		0	0	1	0	0
MOB3B	79817	broad.mit.edu	37	9	27455471	27455471	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:27455471C>A	uc003zqn.3	-	1	574	c.78G>T	c.(76-78)caG>caT	p.Q26H		NM_024761	NP_079037	Q86TA1	MOL2B_HUMAN	Homo sapiens MOB kinase activator 3B (MOB3B), mRNA.	26							metal ion binding|protein binding										GCTCAAACCTCTGTGTGCCAG	0.547000														160			8		0.00307968	0.00322291	1	1	0
MRPL19	9801	broad.mit.edu	37	2	75879745	75879745	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:75879745G>A	uc002snl.3	+	3	462	c.437G>A	c.(436-438)gGa>gAa	p.G146E		NM_014763	NP_055578	P49406	RM19_HUMAN	Homo sapiens mitochondrial ribosomal protein L19 (MRPL19), nuclear gene encoding mitochondrial protein, mRNA.	146					translation	mitochondrion|nuclear membrane|ribosome	structural constituent of ribosome			kidney(1)|large_intestine(1)|lung(6)	8						AGAGGACTTGGAGCTACTTTC	0.383000														89			59		0	0	1	0	0
OTUD7A	161725	broad.mit.edu	37	15	31862287	31862287	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:31862287G>A	uc001zfq.3	-	1	358	c.265C>T	c.(265-267)Cga>Tga	p.R89*	OTUD7A_uc001zfr.3_Nonsense_Mutation_p.R89*|OTUD7A_uc001zfs.1_Non-coding_Transcript|OTUD7A_uc010baa.1_Nonsense_Mutation_p.R89*	NM_130901	NP_570971	Q8TE49	OTU7A_HUMAN	Homo sapiens OTU domain containing 7A (OTUD7A), mRNA.	89						cytoplasm|nucleus	DNA binding|cysteine-type peptidase activity|zinc ion binding	p.R89*(2)|p.E88Q(1)|p.R89Q(1)		endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		TGTGGCTCTCGCTCTGGCTGC	0.642000														28			21		0	0	1	0	0
SLC8A1	6546	broad.mit.edu	37	2	40342396	40342396	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:40342396G>A	uc002rrx.3	-	9	2943	c.2919C>T	c.(2917-2919)ttC>ttT	p.F973F	LOC100128590_uc002rrw.3_Intron|SLC8A1_uc002rry.3_Silent_p.F968F|SLC8A1_uc002rsb.2_Silent_p.F965F|SLC8A1_uc002rrz.3_Silent_p.F960F|SLC8A1_uc002rsa.3_Silent_p.F937F|SLC8A1_uc002rsd.4_Silent_p.F937F	NM_021097	NP_066920	P32418	NAC1_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 1 (SLC8A1), transcript variant A, mRNA.	973					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	AGTTCCTTTAGAAGCCTTTTA	0.383000														24			16		0	0	1	0	0
CHRNB4	1143	broad.mit.edu	37	15	78921563	78921563	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:78921563G>T	uc002bed.1	-	4	1196	c.1084C>A	c.(1084-1086)Ccc>Acc	p.P362T	CHRNB4_uc002bee.1_Intron|CHRNB4_uc010blh.1_Missense_Mutation_p.P180T	NM_000750	NP_000741	P30926	ACHB4_HUMAN	Homo sapiens cholinergic receptor, nicotinic, beta 4 (CHRNB4), mRNA.	362					regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			endometrium(7)|kidney(1)|lung(13)|prostate(1)	22						GACTTGCTGGGCGGGAAGGCT	0.637000														30			8		0.000442599	0.000473562	1	1	0
UBAP1	51271	broad.mit.edu	37	9	34241252	34241252	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:34241252C>T	uc022bfy.1	+	4	627	c.229C>T	c.(229-231)Cgg>Tgg	p.R77W	UBAP1_uc010mka.2_Missense_Mutation_p.R113W|UBAP1_uc003zty.3_Missense_Mutation_p.R77W|UBAP1_uc022bfz.1_Missense_Mutation_p.R77W|UBAP1_uc003ztx.3_Missense_Mutation_p.R77W|UBAP1_uc011loj.2_Missense_Mutation_p.R141W|UBAP1_uc011loi.2_Missense_Mutation_p.R113W|KIF24_uc010mkb.3_Intron|UBAP1_uc003ztz.3_Missense_Mutation_p.R77W	NM_001171203	NP_057609	Q9NZ09	UBAP1_HUMAN	Homo sapiens ubiquitin associated protein 1 (UBAP1), transcript variant 2, mRNA.	77						cytoplasm				endometrium(4)|kidney(2)|lung(6)|upper_aerodigestive_tract(1)	13			LUSC - Lung squamous cell carcinoma(29;0.00272)			AGAAGCCGAGCGGGAAGCAGA	0.458000														62			52		0	0	1	0	0
USP36	57602	broad.mit.edu	37	17	76825052	76825052	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:76825052C>A	uc002jvz.1	-	4	838	c.513G>T	c.(511-513)caG>caT	p.Q171H	USP36_uc002jwa.1_Missense_Mutation_p.Q171H|USP36_uc002jwd.1_Missense_Mutation_p.Q171H	NM_025090	NP_079366	Q9P275	UBP36_HUMAN	Homo sapiens ubiquitin specific peptidase 36 (USP36), mRNA.	171					ubiquitin-dependent protein catabolic process	nucleolus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			CAATGTGGTTCTGCATGACAC	0.512000														23			27		3.73148e-12	4.59117e-12	1	1	0
TRIM67	440730	broad.mit.edu	37	1	231349664	231349664	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:231349664G>A	uc009xfn.1	+	8	2269	c.2227G>A	c.(2227-2229)Gcc>Acc	p.A743T		NM_001004342	NP_001004342	Q6ZTA4	TRI67_HUMAN	Homo sapiens tripartite motif containing 67 (TRIM67), mRNA.	743	B30.2/SPRY.					cytoplasm|cytoskeleton	zinc ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				GGGCCCCACAGCCTTCAGCCA	0.652000														42			7		0	0	1	0	0
DOCK4	9732	broad.mit.edu	37	7	111484843	111484843	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:111484843C>T	uc003vfy.3	-	24	2981	c.2712G>A	c.(2710-2712)atG>atA	p.M904I	DOCK4_uc003vfw.3_Missense_Mutation_p.M345I|DOCK4_uc003vfx.3_Missense_Mutation_p.M904I	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN	Homo sapiens dedicator of cytokinesis 4 (DOCK4), mRNA.	904					cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity|receptor tyrosine kinase binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				ACTGGAACCGCATTGCTGAGC	0.512000														160			12		0	0	1	0	0
VARS	7407	broad.mit.edu	37	6	31752244	31752244	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31752244G>T	uc003nxe.3	-	11	1926	c.1503C>A	c.(1501-1503)ctC>ctA	p.L501L	VARS_uc011doi.1_Non-coding_Transcript	NM_006295	NP_006286	P26640	SYVC_HUMAN	Homo sapiens valyl-tRNA synthetase (VARS), nuclear gene encoding mitochondrial protein, mRNA.	501					translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	CAGGCACGGAGAGCAGGGTGC	0.592000														82			8		1.12685e-05	1.25391e-05	1	1	0
AGPAT5	55326	broad.mit.edu	37	8	6605223	6605223	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:6605223C>T	uc003wqo.3	+	5	931	c.619C>T	c.(619-621)Cga>Tga	p.R207*	AGPAT5_uc011kwm.2_Intron|MIR4659B_uc022aqu.1_5'Flank	NM_018361	NP_060831	Q9NUQ2	PLCE_HUMAN	Homo sapiens 1-acylglycerol-3-phosphate O-acyltransferase 5 (lysophosphatidic acid acyltransferase, epsilon) (AGPAT5), mRNA.	207					phospholipid biosynthetic process	integral to membrane|mitochondrion	1-acylglycerol-3-phosphate O-acyltransferase activity		AGPAT5/MCPH1(2)	endometrium(2)|kidney(2)|large_intestine(4)|lung(3)	11			STAD - Stomach adenocarcinoma(24;0.0578)	READ - Rectum adenocarcinoma(644;0.156)|COAD - Colon adenocarcinoma(149;0.191)		GCTAACACCACGAATAAAGGC	0.373000														42			7		0	0	1	0	0
FBXW10	10517	broad.mit.edu	37	17	18653282	18653282	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:18653282G>A	uc002gul.3	+	2	1150	c.918G>A	c.(916-918)tgG>tgA	p.W306*	FBXW10_uc002guj.3_Intron|FBXW10_uc002guk.3_Intron|FBXW10_uc010cqh.2_Intron	NM_031456	NP_113644	Q5XX13	FBW10_HUMAN	Homo sapiens F-box and WD repeat domain containing 10 (FBXW10), mRNA.	293	F-box.									NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						TCCCCTCTTGGCCCAGTTCTG	0.532000														37			18		0	0	1	0	0
DUSP4	1846	broad.mit.edu	37	8	29194883	29194883	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:29194883G>A	uc003xhm.3	-	3	1317	c.845C>T	c.(844-846)gCg>gTg	p.A282V	DUSP4_uc003xhl.3_Missense_Mutation_p.A191V	NM_001394	NP_001385	Q13115	DUS4_HUMAN	Homo sapiens dual specificity phosphatase 4 (DUSP4), transcript variant 1, mRNA.	282	Tyrosine-protein phosphatase.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|endoderm formation|inactivation of MAPK activity|innate immune response|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/threonine phosphatase activity			endometrium(1)|large_intestine(1)|lung(4)	6				KIRC - Kidney renal clear cell carcinoma(542;0.094)|Kidney(114;0.113)		CGAGATGCCCGCCTGGCAGTG	0.637000														46			5		0	0	1	0	0
TRMT2A	27037	broad.mit.edu	37	22	20103712	20103712	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:20103712G>A	uc002zrk.1	-	2	663	c.448C>T	c.(448-450)Ccc>Tcc	p.P150S	TRMT2A_uc002zrl.1_Missense_Mutation_p.P150S|TRMT2A_uc011ahk.2_Missense_Mutation_p.P150S|RANBP1_uc011ahl.1_5'Flank|RANBP1_uc002zro.1_5'Flank|RANBP1_uc002zrp.3_5'Flank	NM_182984	NP_892029	Q8IZ69	TRM2A_HUMAN	Homo sapiens TRM2 tRNA methyltransferase 2 homolog A (S. cerevisiae) (TRMT2A), transcript variant 2, mRNA.	150					RNA processing		RNA binding|RNA methyltransferase activity|nucleotide binding			breast(2)|endometrium(2)|lung(5)	9						CTGGCCATGGGGTCGGCCTTG	0.662000														27			12		0	0	1	0	0
SYT14	255928	broad.mit.edu	37	1	210329132	210329132	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:210329132C>A	uc001hhs.4	+	7	1424	c.1366C>A	c.(1366-1368)Ctt>Att	p.L456I	SYT14_uc001hht.4_Missense_Mutation_p.L411I|SYT14_uc010psn.2_Missense_Mutation_p.L456I|SYT14_uc001hhu.4_Non-coding_Transcript|SYT14_uc010pso.2_Missense_Mutation_p.L373I|SYT14_uc009xcv.3_Missense_Mutation_p.L411I	NM_001146261	NP_001139733	Q8NB59	SYT14_HUMAN	Homo sapiens synaptotagmin XIV (SYT14), transcript variant 1, mRNA.	411	C2 2.					integral to membrane				endometrium(4)|large_intestine(11)|lung(17)|ovary(1)|prostate(1)|skin(3)	37				OV - Ovarian serous cystadenocarcinoma(81;0.085)		ATGTCAGTCTCTTGAACATGG	0.388000														58			23		3.62473e-10	4.36059e-10	1	1	0
SPATA4	132851	broad.mit.edu	37	4	177114617	177114617	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:177114617G>A	uc003iuo.1	-	1	444	c.335C>T	c.(334-336)gCa>gTa	p.A112V		NM_144644	NP_653245	Q8NEY3	SPAT4_HUMAN	Homo sapiens spermatogenesis associated 4 (SPATA4), mRNA.	112					apoptosis|spermatogenesis			p.A112E(2)		NS(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)	22		Breast(14;0.0011)|Prostate(90;0.0129)|Melanoma(52;0.0133)|Renal(120;0.0376)|all_hematologic(60;0.124)		all cancers(43;2.9e-20)|Epithelial(43;1.99e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.58e-09)|GBM - Glioblastoma multiforme(59;0.000162)|STAD - Stomach adenocarcinoma(60;0.000543)|LUSC - Lung squamous cell carcinoma(193;0.096)		CTCCAACTGTGCCCAGTTATC	0.368000														48			28		0	0	1	0	0
MAN1A2	10905	broad.mit.edu	37	1	117945001	117945001	+	Nonsense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:117945001G>T	uc001ehd.1	+	1	1217	c.496G>T	c.(496-498)Gga>Tga	p.G166*	MAN1A2_uc009whg.1_Intron	NM_006699	NP_006690	O60476	MA1A2_HUMAN	Homo sapiens mannosidase, alpha, class 1A, member 2 (MAN1A2), mRNA.	166					N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	27	Lung SC(450;0.225)	all_cancers(81;7.9e-06)|all_epithelial(167;7.39e-07)|all_lung(203;2.84e-06)|Lung NSC(69;1.99e-05)		Lung(183;0.0688)|Kidney(133;0.114)|LUSC - Lung squamous cell carcinoma(189;0.223)|KIRC - Kidney renal clear cell carcinoma(1967;0.237)|Colorectal(144;0.243)		CAACCTTGTAGGAATACGTGG	0.383000														39			29		4.65686e-17	5.91956e-17	1	1	0
NONO	4841	broad.mit.edu	37	X	70519876	70519876	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:70519876C>T	uc004dzo.3	+	12	2076	c.1366C>T	c.(1366-1368)Cgt>Tgt	p.R456C	BCYRN1_uc011mpt.1_Intron|NONO_uc004dzn.3_Missense_Mutation_p.R456C|NONO_uc004dzp.3_Missense_Mutation_p.R456C|NONO_uc011mpv.2_Missense_Mutation_p.R367C|NONO_uc004dzq.3_Missense_Mutation_p.R325C|ITGB1BP2_uc004dzr.1_5'Flank|ITGB1BP2_uc004dzs.1_5'Flank	NM_001145408	NP_001138882	Q15233	NONO_HUMAN	Homo sapiens non-POU domain containing, octamer-binding (NONO), transcript variant 1, mRNA.	456					DNA recombination|DNA repair|RNA splicing|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|RNA binding|identical protein binding|nucleotide binding		NONO/TFE3(2)	endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	19	Renal(35;0.156)					TGCATTCAACCGTGCAGCTCC	0.458000			T	TFE3	papillary renal cancer									50			33		0	0	1	0	0
APBB1	322	broad.mit.edu	37	11	6432549	6432549	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6432549G>A	uc001mdb.1	-	1	129	c.29C>T	c.(28-30)tCg>tTg	p.S10L	APBB1_uc001mdc.1_Missense_Mutation_p.S10L|APBB1_uc010rah.1_Intron	NM_001164	NP_001155	O00213	APBB1_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65) (APBB1), transcript variant 1, mRNA.	10					apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		ATTAATGGCCGACTGGCTCAG	0.617000														71			38		0	0	1	0	0
SLC35G3	146861	broad.mit.edu	37	17	33520791	33520791	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:33520791G>A	uc002hjd.2	-	0	622	c.536C>T	c.(535-537)aCa>aTa	p.T179I		NM_152462	NP_689675	Q8N808	AMAC1_HUMAN	Homo sapiens solute carrier family 35, member G3 (SLC35G3), mRNA.	179						integral to membrane											CTCCTGTAGTGTCCAGAGTCC	0.587000														149			9		0	0	1	0	0
PHF8	23133	broad.mit.edu	37	X	54011402	54011402	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:54011402G>A	uc004dsu.3	-	17	2742	c.2496C>T	c.(2494-2496)aaC>aaT	p.N832N	PHF8_uc004dsv.3_Silent_p.N662N|PHF8_uc004dst.3_Silent_p.N796N|PHF8_uc004dsw.3_Silent_p.N695N|PHF8_uc004dsx.3_Silent_p.N560N|PHF8_uc004dsy.3_Silent_p.N779N	NM_001184896	NP_055922	Q9UPP1	PHF8_HUMAN	Homo sapiens PHD finger protein 8 (PHF8), transcript variant 1, mRNA.	832					G1/S transition of mitotic cell cycle|brain development|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						CCAGACTGGCGTTCTCCTCCT	0.587000														65			36		0	0	1	0	0
NFKB1	4790	broad.mit.edu	37	4	103528835	103528835	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:103528835C>T	uc011ceq.2	+	18	2618	c.2151C>T	c.(2149-2151)taC>taT	p.Y717Y	NFKB1_uc011cep.2_Silent_p.Y718Y|NFKB1_uc011cer.2_Silent_p.Y537Y	NM_001165412	NP_001158884	P19838	NFKB1_HUMAN	Homo sapiens nuclear factor of kappa light polypeptide gene enhancer in B-cells 1 (NFKB1), transcript variant 2, mRNA.	717	Interaction with CFLAR.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T cell receptor signaling pathway|Toll signaling pathway|anti-apoptosis|apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|membrane protein intracellular domain proteolysis|negative regulation of calcidiol 1-monooxygenase activity|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of transcription, DNA-dependent|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter	I-kappaB/NF-kappaB complex|cytosol|mitochondrion|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			biliary_tract(1)|breast(4)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	Dexamethasone(DB01234)|Pranlukast(DB01411)|Thalidomide(DB01041)	GTACTACCTACGATGGAACCA	0.532000														77			49		0	0	1	0	0
PTPN18	26469	broad.mit.edu	37	2	131116870	131116870	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:131116870C>T	uc002trc.3	+	2	368	c.267C>T	c.(265-267)ggC>ggT	p.G89G	PTPN18_uc002trb.3_Intron	NM_014369	NP_055184	Q99952	PTN18_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 18 (brain-derived) (PTPN18), transcript variant 1, mRNA.	89	Tyrosine-protein phosphatase.					cytoplasm|nucleus	non-membrane spanning protein tyrosine phosphatase activity			endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)	15	Colorectal(110;0.1)					ACATTAATGGCAACTTCATCC	0.567000														34			26		0	0	1	0	0
MYO1A	4640	broad.mit.edu	37	12	57432321	57432321	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57432321G>T	uc001smw.4	-	16	1875	c.1635C>A	c.(1633-1635)tcC>tcA	p.S545S	MYO1A_uc010sqz.2_Silent_p.S383S|MYO1A_uc009zpd.3_Silent_p.S545S	NM_005379	NP_005370	Q9UBC5	MYO1A_HUMAN	Homo sapiens myosin IA (MYO1A), transcript variant 2, mRNA.	545	Myosin head-like.				sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						CAGGAAACAAGGACCGAAGGA	0.532000														48			15		7.93312e-07	9.03407e-07	1	1	0
SEPT5	5413	broad.mit.edu	37	22	19709443	19709443	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:19709443G>A	uc002zpv.2	+	9	1038	c.913G>A	c.(913-915)Gag>Aag	p.E305K	SEPT5_uc002zpw.1_Missense_Mutation_p.R310Q|SEPT5_uc002zpx.1_Non-coding_Transcript|GP1BB_uc002zpz.2_5'UTR	NM_002688	NP_002679	Q99719	SEPT5_HUMAN	Homo sapiens septin 5 (SEPT5), transcript variant 1, mRNA.	305					cell cycle|cytokinesis|regulation of exocytosis|synaptic vesicle targeting	plasma membrane|septin complex|synaptic vesicle	GTP binding|GTPase activity|protein binding|structural molecule activity			lung(1)|upper_aerodigestive_tract(1)	2	Colorectal(54;0.0993)					CGTGCACTACGAGAACTACCG	0.632000														25			15		0	0	1	0	0
GPN1	11321	broad.mit.edu	37	2	27861839	27861839	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:27861839G>A	uc010ymc.2	+	8	721	c.700G>A	c.(700-702)Gtc>Atc	p.V234I	GPN1_uc010ezf.3_Missense_Mutation_p.V208I|GPN1_uc010yma.2_Missense_Mutation_p.V141I|GPN1_uc010ymb.2_Missense_Mutation_p.V125I|GPN1_uc010ymd.2_Missense_Mutation_p.V115I|GPN1_uc010ezg.1_Missense_Mutation_p.V115I	NM_007266	NP_001138520	Q9HCN4	GPN1_HUMAN	Homo sapiens GPN-loop GTPase 1 (GPN1), transcript variant 1, mRNA.	220						cytoplasm	GTP binding|nucleoside-triphosphatase activity|protein binding			endometrium(1)|large_intestine(1)|lung(12)	14						GACTACATACGTCAGTAACCT	0.458000														37			33		0	0	1	0	0
EMP2	2013	broad.mit.edu	37	16	10626797	10626797	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:10626797C>T	uc002czx.3	-	4	663	c.469G>A	c.(469-471)Ggc>Agc	p.G157S		NM_001424	NP_001415	P54851	EMP2_HUMAN	Homo sapiens epithelial membrane protein 2 (EMP2), mRNA.	157					cell proliferation	integral to membrane				NS(1)|endometrium(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	6						TACATCATGCCGCTGATGAAG	0.502000														59			6		0	0	1	0	0
KLHL7	55975	broad.mit.edu	37	7	23205476	23205476	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:23205476C>T	uc003svs.4	+	7	1389	c.1096C>T	c.(1096-1098)Ctg>Ttg	p.L366L	KLHL7_uc003svr.4_Silent_p.L344L|KLHL7_uc011jys.2_Silent_p.L290L|KLHL7_uc011jyt.2_Silent_p.L141L|KLHL7_uc003svt.3_Silent_p.L318L|KLHL7_uc011jyv.2_Silent_p.L141L	NM_001031710	NP_061334	Q8IXQ5	KLHL7_HUMAN	Homo sapiens kelch-like 7 (Drosophila) (KLHL7), transcript variant 1, mRNA.	366						Golgi apparatus|nucleolus|plasma membrane				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GTATTCGAAACTGGGTCCTCC	0.438000														59			16		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140798177	140798177	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140798177C>A	uc003lkn.2	+	0	918	c.751C>A	c.(751-753)Ctt>Att	p.L251I	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkm.3_Missense_Mutation_p.L251I|PCDHGC5_uc003lko.1_5'Flank|PCDHGC5_uc003lkq.2_5'Flank|PCDHGC5_uc003lkp.2_5'Flank	NM_018927	NP_061750	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 7 (PCDHGB7), transcript variant 1, mRNA.	251	Cadherin 3.				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)			CAGGGTTAGCCTTCGGGAAGA	0.547000														30			28		1.80694e-10	2.18278e-10	1	1	0
C18orf21	83608	broad.mit.edu	37	18	33557432	33557432	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:33557432T>C	uc002kzc.3	+	3	464	c.360T>C	c.(358-360)ttT>ttC	p.F120F	C18orf21_uc002kzd.3_Silent_p.F32F|C18orf21_uc021uit.1_Intron|C18orf21_uc021uiu.1_Silent_p.F32F	NM_031446	NP_001188404	Q32NC0	CR021_HUMAN	Homo sapiens chromosome 18 open reading frame 21 (C18orf21), transcript variant 1, mRNA.	120										endometrium(1)|kidney(1)|large_intestine(1)|skin(2)	5						GTAGAAGCTTTGTGTCAACAT	0.393000														45			4		0	0	1	0	0
AGXT	189	broad.mit.edu	37	2	241817440	241817440	+	Splice_Site	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:241817440C>T	uc002waa.4	+	10	1064	c.943_splice	c.e10-1	p.A315_splice	AGXT_uc002wab.4_Splice_Site_p.A193_splice	NM_000030	NP_000021	P21549	SPYA_HUMAN	Homo sapiens alanine-glyoxylate aminotransferase (AGXT), mRNA.	315					glyoxylate metabolic process|protein targeting to peroxisome	mitochondrial matrix|peroxisomal matrix	alanine-glyoxylate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|serine-pyruvate transaminase activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)	18		all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)	Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	CTCCTGCAGGCGCTCCGGCTT	0.602000														21			14		0	0	1	0	0
BBS4	585	broad.mit.edu	37	15	73029112	73029112	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:73029112A>C	uc002avd.3	+	14	1620	c.1282A>C	c.(1282-1284)Atg>Ctg	p.M428L	BBS4_uc010ukv.2_Missense_Mutation_p.M408L|BBS4_uc002avb.3_Missense_Mutation_p.M420L|BBS4_uc002avc.3_Missense_Mutation_p.M248L	NM_001252678	NP_001239607	Q96RK4	BBS4_HUMAN	Homo sapiens Bardet-Biedl syndrome 4 (BBS4), transcript variant 2, mRNA.	420	Required for localization to centrosomes.				adult behavior|brain morphogenesis|cell cycle cytokinesis|centrosome organization|cerebral cortex development|convergent extension involved in gastrulation|dendrite development|fat cell differentiation|heart looping|hippocampus development|intracellular transport|maintenance of protein location in nucleus|melanosome transport|microtubule anchoring at centrosome|neural tube closure|nonmotile primary cilium assembly|photoreceptor cell maintenance|pigment granule aggregation in cell center|positive regulation of flagellum assembly|regulation of cilium beat frequency involved in ciliary motility|regulation of cytokinesis|regulation of lipid metabolic process|retina homeostasis|retinal rod cell development|sensory perception of smell|sensory processing|spermatid development|striatum development	BBSome|centriolar satellite|centriole|cilium membrane|microtubule basal body|motile cilium|nonmotile primary cilium|nucleus|pericentriolar material	alpha-tubulin binding|beta-tubulin binding|dynactin binding|microtubule motor activity			autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(1)	19						GATGGTGGAGATGGCTCAGAA	0.498000									Bardet-Biedl syndrome					67			9		0	0	1	0	0
DPPA2	151871	broad.mit.edu	37	3	109027001	109027001	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:109027001G>T	uc003dxo.3	-	5	783	c.536C>A	c.(535-537)aCt>aAt	p.T179N		NM_138815	NP_620170	Q7Z7J5	DPPA2_HUMAN	Homo sapiens developmental pluripotency associated 2 (DPPA2), mRNA.	179						nucleus	nucleic acid binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CGGTGCTGAAGTTATCACTTC	0.463000														71			36		1.15183e-24	1.50487e-24	1	1	0
C4BPA	722	broad.mit.edu	37	1	207297591	207297591	+	Missense_Mutation	SNP	G	A	A	rs143323893		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:207297591G>A	uc001hfo.3	+	5	780	c.586G>A	c.(586-588)Ggc>Agc	p.G196S		NM_000715	NP_000706	P04003	C4BPA_HUMAN	Homo sapiens complement component 4 binding protein, alpha (C4BPA), mRNA.	196	Sushi 3.				complement activation, classical pathway|innate immune response	extracellular region	protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						CTACGCATACGGCTTTTCTGT	0.478000														80			8		0	0	1	0	0
LPA	4018	broad.mit.edu	37	6	160999636	160999636	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:160999636G>A	uc003qtl.3	-	27	4510	c.4390C>T	c.(4390-4392)Cga>Tga	p.R1464*		NM_005577	NP_005568	P08519	APOA_HUMAN	Homo sapiens lipoprotein, Lp(a) (LPA), mRNA.	3972	Kringle 13.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	ACTGGACATCGTGTCAGGTTG	0.527000														63			9		0	0	1	0	0
SLC30A5	64924	broad.mit.edu	37	5	68417568	68417568	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:68417568C>A	uc003jvh.3	+	12	1924	c.1617C>A	c.(1615-1617)gcC>gcA	p.A539A	SLC30A5_uc003jvj.3_Intron|SLC30A5_uc003jvk.3_Silent_p.A268A|SLC30A5_uc003jvi.3_Silent_p.A368A	NM_022902	NP_075053	Q8TAD4	ZNT5_HUMAN	Homo sapiens solute carrier family 30 (zinc transporter), member 5 (SLC30A5), transcript variant 1, mRNA.	539					cellular zinc ion homeostasis|cobalt ion transport|regulation of proton transport|response to zinc ion	Golgi apparatus|apical plasma membrane|integral to plasma membrane|membrane fraction|secretory granule membrane	zinc ion binding|zinc ion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Lung NSC(167;0.000986)|Prostate(74;0.00809)|Colorectal(97;0.0508)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)		GTATCTGTGCCTTtagccatg	0.428000														18			3		6.4e-05	6.99953e-05	1	1	0
SORT1	6272	broad.mit.edu	37	1	109870142	109870142	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:109870142C>T	uc001dxm.2	-	11	1502	c.1453G>A	c.(1453-1455)Gta>Ata	p.V485I	SORT1_uc010ovi.2_Missense_Mutation_p.V348I	NM_002959	NP_002950	Q99523	SORT_HUMAN	Homo sapiens sortilin 1 (SORT1), transcript variant 1, mRNA.	485					Golgi to endosome transport|endocytosis|endosome to lysosome transport|endosome transport via multivesicular body sorting pathway|glucose import|induction of apoptosis by extracellular signals|myotube differentiation|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|neuropeptide signaling pathway|ossification|plasma membrane to endosome transport|regulation of gene expression|response to insulin stimulus|vesicle organization	Golgi cisterna membrane|cell surface|coated pit|early endosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|microsome|nuclear membrane|perinuclear region of cytoplasm|plasma membrane	enzyme binding|nerve growth factor binding|nerve growth factor receptor activity|neurotensin receptor activity, non-G-protein coupled	p.A484A(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184)		ACAATGCCTACGGCATTCGGC	0.498000														49			17		0	0	1	0	0
KRT35	3886	broad.mit.edu	37	17	39635705	39635705	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:39635705C>T	uc002hws.3	-	2	648	c.605G>A	c.(604-606)gGc>gAc	p.G202D		NM_002280	NP_002271	Q92764	KRT35_HUMAN	Homo sapiens keratin 35 (KRT35), mRNA.	202	Coil 1B.|Rod.				anatomical structure morphogenesis	intermediate filament	protein binding|structural molecule activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.000286)				CCTGCGCAGGCCGTTGATGTC	0.572000														37			31		0	0	1	0	0
MGA	23269	broad.mit.edu	37	15	41989149	41989149	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:41989149G>A	uc010ucy.2	+	2	2122	c.1941G>A	c.(1939-1941)ggG>ggA	p.G647G	MGA_uc001zog.1_Silent_p.G647G|MGA_uc010ucz.2_Silent_p.G647G	NM_001164273	NP_001157745	Q8IWI9	MGAP_HUMAN	Homo sapiens MAX gene associated (MGA), transcript variant 1, mRNA.	647						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		TAAGCCCTGGGAGTACCTTTC	0.408000														8			6		0	0	1	0	0
MCM8	84515	broad.mit.edu	37	20	5948475	5948475	+	Splice_Site	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:5948475G>A	uc002wmk.3	+	10	1405	c.1028_splice	c.e10-1	p.G343_splice	MCM8_uc002wmi.3_Splice_Site_p.G343_splice|MCM8_uc002wmj.3_Intron|MCM8_uc002wml.3_Splice_Site_p.G343_splice|MCM8_uc010gbp.3_Splice_Site_p.G343_splice|MCM8_uc002wmm.3_5'Flank	NM_032485	NP_115874	Q9UJA3	MCM8_HUMAN	Homo sapiens minichromosome maintenance complex component 8 (MCM8), transcript variant 1, mRNA.	343					DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|nucleoside-triphosphatase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						TTAATTTACAGGTTCTCGAAA	0.303000														29			8		0	0	1	0	0
HARBI1	283254	broad.mit.edu	37	11	46637623	46637623	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:46637623C>T	uc001ncy.3	-	1	413	c.165G>A	c.(163-165)gcG>gcA	p.A55A	ATG13_uc009yld.3_5'Flank|ATG13_uc001nda.3_5'Flank|ATG13_uc001ndb.3_5'Flank|ATG13_uc001ncz.3_5'Flank|ATG13_uc001ndc.3_5'Flank|ATG13_uc010rgv.2_5'Flank	NM_173811	NP_776172	Q96MB7	HARB1_HUMAN	Homo sapiens harbinger transposase derived 1 (HARBI1), mRNA.	55						cytoplasm|nucleus	metal ion binding|nuclease activity			large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)	3						TAGAAAGATTCGCCCCCAAGA	0.483000														31			18		0	0	1	0	0
FOXL1	2300	broad.mit.edu	37	16	86612511	86612511	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:86612511C>T	uc002fjr.3	+	0	397	c.182C>T	c.(181-183)gCg>gTg	p.A61V		NM_005250	NP_005241	Q12952	FOXL1_HUMAN	Homo sapiens forkhead box L1 (FOXL1), mRNA.	61					brain development|camera-type eye development|cartilage development|embryo development|forelimb morphogenesis|heart development|organ morphogenesis|pattern specification process|proteoglycan biosynthetic process|regulation of Wnt receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|visceral mesoderm-endoderm interaction involved in midgut development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA 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	p.A61A(1)		central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(2)|prostate(3)|skin(1)|urinary_tract(1)	15						ATCGCCATGGCGATCCAGGAC	0.672000														30			25		0	0	1	0	0
BRWD3	254065	broad.mit.edu	37	X	79932200	79932200	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:79932200C>A	uc004edt.3	-	40	5580	c.5317G>T	c.(5317-5319)Gat>Tat	p.D1773Y	BRWD3_uc010nmi.2_Non-coding_Transcript|BRWD3_uc004edp.3_Missense_Mutation_p.D1602Y|BRWD3_uc004edq.3_Missense_Mutation_p.D1369Y|BRWD3_uc010nmj.2_Missense_Mutation_p.D1369Y|BRWD3_uc004edr.3_Missense_Mutation_p.D1443Y|BRWD3_uc004eds.3_Missense_Mutation_p.D1369Y|BRWD3_uc004edo.3_Missense_Mutation_p.D1369Y|BRWD3_uc004edu.3_Missense_Mutation_p.D1443Y|BRWD3_uc004edv.3_Missense_Mutation_p.D1369Y|BRWD3_uc004edw.3_Missense_Mutation_p.D1369Y|BRWD3_uc004edx.3_Missense_Mutation_p.D1369Y|BRWD3_uc004edy.3_Missense_Mutation_p.D1369Y|BRWD3_uc004edz.3_Missense_Mutation_p.D1443Y|BRWD3_uc004eea.3_Missense_Mutation_p.D1443Y|BRWD3_uc004eeb.3_Missense_Mutation_p.D1369Y	NM_153252	NP_694984	Q6RI45	BRWD3_HUMAN	Homo sapiens bromodomain and WD repeat domain containing 3 (BRWD3), mRNA.	1773										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						TTCAGAGGATCCTCAGTGGAC	0.393000														32			25		3.28513e-13	4.08142e-13	1	1	0
BRCA2	675	broad.mit.edu	37	13	32912286	32912286	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:32912286G>A	uc001uub.1	+	10	4021	c.3794G>A	c.(3793-3795)tGt>tAt	p.C1265Y		NM_000059	NP_000050	P51587	BRCA2_HUMAN	Homo sapiens breast cancer 2, early onset (BRCA2), mRNA.	1265					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|gamma-tubulin binding|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TCAAGTAAATGTCATGATTCT	0.279000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)				16			11		0	0	1	0	0
MTSS1L	92154	broad.mit.edu	37	16	70713743	70713743	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:70713743G>A	uc002ezj.3	-	4	588	c.328C>T	c.(328-330)Cgc>Tgc	p.R110C	MTSS1L_uc002ezk.1_Missense_Mutation_p.R30C	NM_138383	NP_612392	Q765P7	MTSSL_HUMAN	Homo sapiens metastasis suppressor 1-like (MTSS1L), mRNA.	110	IMD.				filopodium assembly|signal transduction		SH3 domain binding|actin binding|cytoskeletal adaptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|liver(1)|lung(1)|skin(1)	7						TCCTCGATGCGCTCCTGCAGC	0.736000														18			5		0	0	1	0	0
EFNA3	1944	broad.mit.edu	37	1	155039407	155039407	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155039407T>C	uc001fhc.3	+	1	402	c.315T>C	c.(313-315)caT>caC	p.H105H	EFNA3_uc010pew.2_Intron|LOC100505666_uc021pan.1_5'Flank|EFNA3_uc001fhd.3_Silent_p.H105H|EFNA3_uc001fhe.3_Silent_p.H105H	NM_182689	NP_872631	P52797	EFNA3_HUMAN	Homo sapiens ephrin-A4 (EFNA4), transcript variant 2, mRNA.	119					cell-cell signaling	anchored to membrane|integral to plasma membrane	ephrin receptor binding|transmembrane-ephrin receptor activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(2)	5	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		all cancers(21;5.67e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000284)|LUSC - Lung squamous cell carcinoma(543;0.193)			CCTTTGGCCATGTTCAATTCT	0.562000														50			6		0	0	1	0	0
HOXA2	3199	broad.mit.edu	37	7	27140382	27140382	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:27140382G>A	uc003syh.3	-	1	1369	c.1094C>T	c.(1093-1095)aCa>aTa	p.T365I	HOXA2_uc022aaq.1_3'UTR	NM_006735	NP_006726	O43364	HXA2_HUMAN	Homo sapiens homeobox A2 (HOXA2), mRNA.	365						nucleus	sequence-specific DNA binding transcription factor activity			breast(3)|cervix(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	22						TGTGGTGAGTGTGTCTGTAAA	0.433000														135			34		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179584372	179584372	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179584372G>T	uc021vsy.1	-	78	20340	c.20115C>A	c.(20113-20115)ccC>ccA	p.P6705P	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.P3366P	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	7632	Ig-like 48.						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)			TTTCGGCACAGGGGATTTTAA	0.408000														110			13		2.27111e-07	2.61452e-07	1	1	0
POLR1A	25885	broad.mit.edu	37	2	86272844	86272844	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:86272844G>T	uc002sqs.3	-	19	3161	c.2782C>A	c.(2782-2784)Ctg>Atg	p.L928M	POLR1A_uc010ytb.2_Missense_Mutation_p.L294M|POLR1A_uc002sqt.1_5'Flank	NM_015425	NP_056240	O95602	RPA1_HUMAN	Homo sapiens polymerase (RNA) I polypeptide A, 194kDa (POLR1A), mRNA.	928					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						GACGCCATCAGCGGGGGTCTC	0.557000														32			32		2.85442e-18	3.65487e-18	1	1	0
CD1E	913	broad.mit.edu	37	1	158326667	158326667	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:158326667G>A	uc001fse.3	+	5	1441	c.1148G>A	c.(1147-1149)cGc>cAc	p.R383H	CD1E_uc001fsh.3_Missense_Mutation_p.R182H|CD1E_uc001fry.3_Missense_Mutation_p.R316H|CD1E_uc001fsf.3_Missense_Mutation_p.R371H|CD1E_uc001fsg.3_3'UTR|CD1E_uc009wsv.3_Missense_Mutation_p.R284H|CD1E_uc001fsj.3_Missense_Mutation_p.R226H|CD1E_uc001fsk.3_Missense_Mutation_p.R293H|CD1E_uc001fsa.3_Missense_Mutation_p.R139H|CD1E_uc001fsd.3_3'UTR|CD1E_uc001frz.3_Missense_Mutation_p.R281H|CD1E_uc010pig.2_Missense_Mutation_p.R127H|CD1E_uc001fsc.3_Missense_Mutation_p.R194H|CD1E_uc021pbm.1_Non-coding_Transcript|CD1E_uc009wsw.3_3'UTR	NM_030893	NP_112155	P15812	CD1E_HUMAN	Homo sapiens CD1e molecule (CD1E), transcript variant 1, mRNA.	383					antigen processing and presentation|immune response	Golgi membrane|early endosome|integral to plasma membrane|late endosome|lysosomal lumen		p.R383C(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					TGGAAGACACGCCTAAACCAA	0.423000														63			24		0	0	1	0	0
RAB37	326624	broad.mit.edu	37	17	72725432	72725432	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:72725432C>A	uc010dfu.3	+	1	580	c.110C>A	c.(109-111)tCt>tAt	p.S37Y	RAB37_uc002jlc.2_Missense_Mutation_p.S37Y|RAB37_uc002jld.2_Missense_Mutation_p.S37Y	NM_175738	NP_783865	Q96AX2	RAB37_HUMAN	Homo sapiens RAB37, member RAS oncogene family (RAB37), transcript variant 3, mRNA.	44					protein transport|small GTPase mediated signal transduction	ER-Golgi intermediate compartment	GTP binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	12						GGAAAGACGTCTCTGCTGGTT	0.587000														59			35		4.32679e-17	5.50406e-17	1	1	0
IKBKE	9641	broad.mit.edu	37	1	206651588	206651588	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:206651588G>A	uc001hdz.2	+	8	1476	c.898G>A	c.(898-900)Gcg>Acg	p.A300T	IKBKE_uc009xbu.2_3'UTR|IKBKE_uc001hea.2_Missense_Mutation_p.A215T|IKBKE_uc009xbv.2_Missense_Mutation_p.A300T	NM_014002	NP_001180250	Q14164	IKKE_HUMAN	Homo sapiens inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon (IKBKE), transcript variant 1, mRNA.	300	Protein kinase.				DNA damage response, signal transduction resulting in induction of apoptosis|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	PML body|cytosol|endosome membrane|plasma membrane	ATP binding|IkappaB kinase activity|NF-kappaB-inducing kinase activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2)	32	Breast(84;0.137)					CCAGTTCTTTGCGGAGACCAG	0.602000														87			6		0	0	1	0	0
PCDHB4	56131	broad.mit.edu	37	5	140502941	140502941	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140502941C>T	uc003lip.1	+	0	1361	c.1361C>T	c.(1360-1362)tCc>tTc	p.S454F		NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	Homo sapiens protocadherin beta 4 (PCDHB4), mRNA.	454					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACCCAAACCTCCTACACCCTG	0.617000														46			20		0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144947320	144947320	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:144947320C>T	uc003zaa.1	-	0	115	c.102G>A	c.(100-102)acG>acA	p.T34T		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	34						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GCCTGGGGGGCGTGCCGGCTC	0.687000														24			14		0	0	1	0	0
RIMS2	9699	broad.mit.edu	37	8	104955039	104955039	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:104955039G>A	uc003yls.3	+	11	2161	c.1920G>A	c.(1918-1920)gaG>gaA	p.E640E	RIMS2_uc003ylp.3_Silent_p.E862E|RIMS2_uc003ylw.2_Silent_p.E654E|RIMS2_uc003ylq.3_Silent_p.E654E|RIMS2_uc003ylr.3_Silent_p.E701E|RIMS2_uc003ylt.3_Silent_p.E247E	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA.	924					intracellular protein transport	cell junction|presynaptic membrane	Rab GTPase binding|metal ion binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TAGATGATGAGCCACATTGGT	0.378000										HNSCC(12;0.0054)				29			16		0	0	1	0	0
ACOX3	8310	broad.mit.edu	37	4	8407741	8407741	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:8407741C>T	uc010idk.3	-	6	862	c.717G>A	c.(715-717)atG>atA	p.M239I	ACOX3_uc003glc.4_Missense_Mutation_p.M239I|ACOX3_uc003gld.4_Missense_Mutation_p.M239I	NM_003501	NP_003492	O15254	ACOX3_HUMAN	Homo sapiens acyl-CoA oxidase 3, pristanoyl (ACOX3), transcript variant 1, mRNA.	239					bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1)	42						TCACTCCAGGCATGGGAAGAA	0.488000														87			60		0	0	1	0	0
RQCD1	9125	broad.mit.edu	37	2	219457400	219457400	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:219457400G>A	uc010zkh.2	+	6	701	c.701G>A	c.(700-702)aGa>aAa	p.R234K	RQCD1_uc002vih.1_Missense_Mutation_p.R234K|RQCD1_uc010zki.2_Missense_Mutation_p.R266K	NM_005444	NP_005435	Q92600	RCD1_HUMAN	Homo sapiens RCD1 required for cell differentiation1 homolog (S. pombe) (RQCD1), mRNA.	234					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|sex differentiation|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(3)|skin(1)	15		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000192)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CATGTAGTGAGATGTTACCTT	0.443000														63			51		0	0	1	0	0
P2RX7	5027	broad.mit.edu	37	12	121605290	121605290	+	Splice_Site	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:121605290G>T	uc001tzm.3	+	8	897	c.745_splice	c.e8-1	p.G249_splice	P2RX7_uc001tzn.3_Splice_Site_p.G159_splice|P2RX7_uc001tzo.3_Intron|P2RX7_uc001tzp.3_Intron|P2RX7_uc001tzq.3_Splice_Site_p.G79_splice	NM_002562	NP_002553	A8K2Z0	A8K2Z0_HUMAN	Homo sapiens purinergic receptor P2X, ligand-gated ion channel, 7 (P2RX7), transcript variant 1, mRNA.	249						integral to membrane	ATP binding|ion channel activity|receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|stomach(1)	19	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TGATCCTTCAGGGCGGAATAA	0.512000														97			7		0.000157383	0.000170012	1	1	0
CEBPZ	10153	broad.mit.edu	37	2	37454686	37454686	+	Splice_Site	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:37454686C>T	uc002rpz.3	-	2	1679	c.1649_splice	c.e2+1	p.R550_splice		NM_005760	NP_005751	Q03701	CEBPZ_HUMAN	Homo sapiens CCAAT/enhancer binding protein (C/EBP), zeta (CEBPZ), mRNA.	550					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding			breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28		all_hematologic(82;0.21)				TATGTTCTTACCTGTATAATG	0.363000														78			41		0	0	1	0	0
KDM3A	55818	broad.mit.edu	37	2	86701913	86701913	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:86701913A>G	uc002sri.4	+	11	2066	c.1739A>G	c.(1738-1740)aAa>aGa	p.K580R	KDM3A_uc010ytj.2_Missense_Mutation_p.K580R|KDM3A_uc010ytk.2_Missense_Mutation_p.K528R	NM_018433	NP_060903	Q9Y4C1	KDM3A_HUMAN	Homo sapiens lysine (K)-specific demethylase 3A (KDM3A), transcript variant 1, mRNA.	580					androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						CAATTCAACAAACATGGTGTG	0.408000														60			38		0	0	1	0	0
ZNF750	79755	broad.mit.edu	37	17	80788324	80788324	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:80788324G>A	uc002kga.3	-	2	2177	c.1866C>T	c.(1864-1866)tgC>tgT	p.C622C	TBCD_uc002kfx.1_Intron|TBCD_uc002kfy.1_Intron|TBCD_uc002kfz.3_Intron	NM_024702	NP_078978	Q32MQ0	ZN750_HUMAN	Homo sapiens zinc finger protein 750 (ZNF750), mRNA.	622						intracellular	zinc ion binding			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			TGTCCACCGCGCATGCGTCTG	0.706000														24			12		0	0	1	0	0
PTPN9	5780	broad.mit.edu	37	15	75815540	75815540	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:75815540C>A	uc002bal.3	-	3	852	c.344G>T	c.(343-345)aGg>aTg	p.R115M		NM_002833	NP_002824	P43378	PTN9_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 9 (PTPN9), mRNA.	115	CRAL-TRIO.					cytoplasmic part	non-membrane spanning protein tyrosine phosphatase activity|protein binding			central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						ATGATGCAACCTGGCAGTAAA	0.398000														26			21		3.5997e-14	4.50316e-14	1	1	0
PRPF8	10594	broad.mit.edu	37	17	1584919	1584919	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:1584919C>T	uc002fte.3	-	5	833	c.719G>A	c.(718-720)cGc>cAc	p.R240H		NM_006445	NP_006436	Q6P2Q9	PRP8_HUMAN	Homo sapiens PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae) (PRPF8), mRNA.	240						U5 snRNP|catalytic step 2 spliceosome|nuclear speck	RNA binding|protein binding	p.Y239fs*4(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		ATTAGCCAGGCGGTAGAGAGT	0.468000														93			46		0	0	1	0	0
DPYD	1806	broad.mit.edu	37	1	98187214	98187214	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:98187214G>T	uc001drv.3	-	4	472	c.335C>A	c.(334-336)gCt>gAt	p.A112D	DPYD_uc010oub.1_Non-coding_Transcript|DPYD_uc001drw.3_Missense_Mutation_p.A112D	NM_000110	NP_000101	Q12882	DPYD_HUMAN	Homo sapiens dihydropyrimidine dehydrogenase (DPYD), transcript variant 1, mRNA.	112					'de novo' pyrimidine base biosynthetic process|UMP biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|NADP binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	CATCTTAGCAGCTCCATAATA	0.323000														43			18		2.39187e-15	3.01214e-15	1	1	0
SYF2	25949	broad.mit.edu	37	1	25549895	25549895	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:25549895C>T	uc001bjt.1	-	6	649	c.594G>A	c.(592-594)cgG>cgA	p.R198R	SYF2_uc001bju.1_Silent_p.R156R	NM_015484	NP_056299	O95926	SYF2_HUMAN	Homo sapiens SYF2 homolog, RNA splicing factor (S. cerevisiae) (SYF2), transcript variant 1, mRNA.	198						catalytic step 2 spliceosome		p.R198L(1)		kidney(1)|large_intestine(1)|lung(4)	6		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-26)|Colorectal(126;2.54e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000455)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00145)|GBM - Glioblastoma multiforme(114;0.00443)|READ - Rectum adenocarcinoma(331;0.0936)|Lung(427;0.201)		AAGGACGTCTCCGGCTATATT	0.343000														81			54		0	0	1	0	0
COL7A1	1294	broad.mit.edu	37	3	48619141	48619141	+	Missense_Mutation	SNP	G	A	A	rs144663654		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:48619141G>A	uc003ctz.2	-	47	4721	c.4720C>T	c.(4720-4722)Cgg>Tgg	p.R1574W	COL7A1_uc021wxp.1_5'Flank	NM_000094	NP_000085	Q02388	CO7A1_HUMAN	Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA.	1574	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TCACTTACCCGTTCCCCTTGG	0.582000														95			8		0	0	1	0	0
SLC16A4	9122	broad.mit.edu	37	1	110919640	110919640	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:110919640G>T	uc001dzo.2	-	6	1424	c.1174C>A	c.(1174-1176)Ctt>Att	p.L392I	SLC16A4_uc009wfs.2_Missense_Mutation_p.L344I|SLC16A4_uc001dzp.2_Missense_Mutation_p.L224I|SLC16A4_uc010ovy.2_Missense_Mutation_p.L330I|SLC16A4_uc010ovz.2_Missense_Mutation_p.L282I|SLC16A4_uc001dzq.2_Missense_Mutation_p.L162I	NM_004696	NP_004687	O15374	MOT5_HUMAN	Homo sapiens solute carrier family 16, member 4 (monocarboxylic acid transporter 5) (SLC16A4), transcript variant 1, mRNA.	392						integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity			breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(2)|ovary(3)|prostate(1)|stomach(2)	16		all_cancers(81;0.000476)|all_epithelial(167;0.000401)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0251)|all cancers(265;0.0766)|Epithelial(280;0.0807)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.14)	Pyruvic acid(DB00119)	TAGGTCATAAGTAGTGGAAAT	0.433000														41			18		1.78486e-19	2.29754e-19	1	1	0
NPTX1	4884	broad.mit.edu	37	17	78444684	78444684	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:78444684C>T	uc002jyp.1	-	4	1386	c.1228G>A	c.(1228-1230)Gct>Act	p.A410T		NM_002522	NP_002513	Q15818	NPTX1_HUMAN	Homo sapiens neuronal pentraxin I (NPTX1), mRNA.	410	Pentaxin.				central nervous system development|synaptic transmission|transport	transport vesicle	metal ion binding			kidney(1)|large_intestine(2)|liver(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)	11	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0487)			TGGGATTCAGCCCAGGCGATG	0.647000														45			15		0	0	1	0	0
MAP1B	4131	broad.mit.edu	37	5	71490623	71490623	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:71490623G>A	uc003kbw.4	+	4	1682	c.1441G>A	c.(1441-1443)Gcg>Acg	p.A481T	MAP1B_uc010iyw.1_Missense_Mutation_p.A498T|MAP1B_uc010iyx.1_Missense_Mutation_p.A355T|MAP1B_uc010iyy.1_Missense_Mutation_p.A355T	NM_005909	NP_005900	P46821	MAP1B_HUMAN	Homo sapiens microtubule-associated protein 1B (MAP1B), mRNA.	481						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		AGCAAACCCTGCGGAGAAAAT	0.463000														83			9		0	0	1	0	0
SPANXN4	441525	broad.mit.edu	37	X	142113804	142113804	+	Nonsense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:142113804G>T	uc004fbv.4	+	0	101	c.4G>T	c.(4-6)Gaa>Taa	p.E2*		NM_001009613	NP_001009613	Q5MJ08	SPXN4_HUMAN	Homo sapiens SPANX family, member N4 (SPANXN4), mRNA.	2										endometrium(2)|large_intestine(2)|lung(3)|ovary(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					CATAATCATGGAAGAGCCAAC	0.423000														13			8		1.58986e-06	1.80238e-06	1	1	0
ADIPOR2	79602	broad.mit.edu	37	12	1887032	1887032	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:1887032C>T	uc001qjm.3	+	3	501	c.304C>T	c.(304-306)Cgg>Tgg	p.R102W	ADIPOR2_uc001qjn.3_Missense_Mutation_p.R102W	NM_024551	NP_078827	Q86V24	ADR2_HUMAN	Homo sapiens adiponectin receptor 2 (ADIPOR2), mRNA.	102					fatty acid oxidation|hormone-mediated signaling pathway	integral to membrane	hormone binding|receptor activity			endometrium(1)|large_intestine(3)|lung(7)|stomach(1)	12	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000382)			ATGGGAAGGTCGGTGGCGAGT	0.478000														36			16		0	0	1	0	0
CAPG	822	broad.mit.edu	37	2	85628938	85628938	+	Nonsense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:85628938C>A	uc010fgi.1	-	2	243	c.166G>T	c.(166-168)Gaa>Taa	p.E56*	CAPG_uc002spm.1_Nonsense_Mutation_p.E56*|CAPG_uc002spl.1_Nonsense_Mutation_p.E56*|CAPG_uc010fgj.1_5'Flank	NM_001747	NP_001738	P40121	CAPG_HUMAN	Homo sapiens capping protein (actin filament), gelsolin-like (CAPG), transcript variant 1, mRNA.	56					barbed-end actin filament capping|protein complex assembly	F-actin capping protein complex|melanosome|nuclear membrane|nucleolus	actin binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6)	11						GAAACCTCTTCTGGGCCATTG	0.607000														43			35		6.90743e-12	8.48061e-12	1	1	0
ITGAE	3682	broad.mit.edu	37	17	3643130	3643130	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:3643130C>T	uc002fwo.4	-	19	2590	c.2491G>A	c.(2491-2493)Gca>Aca	p.A831T		NM_002208	NP_002199	P38570	ITAE_HUMAN	Homo sapiens integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide) (ITGAE), mRNA.	831					cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		TGTAATTCTGCGACACAAAAC	0.552000														32			18		0	0	1	0	0
NAE1	8883	broad.mit.edu	37	16	66842453	66842453	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:66842453C>A	uc002eqf.3	-	16	1378	c.1301G>T	c.(1300-1302)aGa>aTa	p.R434I	NAE1_uc002eqe.3_Missense_Mutation_p.R428I|NAE1_uc002eqg.3_Missense_Mutation_p.R345I|NAE1_uc010cdv.3_Missense_Mutation_p.R437I	NM_003905	NP_001018170	Q13564	ULA1_HUMAN	Homo sapiens NEDD8 activating enzyme E1 subunit 1 (NAE1), transcript variant 1, mRNA.	434					DNA replication|apoptosis|cell cycle|mitotic cell cycle DNA replication checkpoint|protein neddylation|signal transduction	cytoplasm|insoluble fraction|plasma membrane	catalytic activity|protein heterodimerization activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0914)|Epithelial(162;0.214)	Adenosine triphosphate(DB00171)	TTTATGAAATCTATCAACAGC	0.289000														80			71		2.05912e-35	2.72967e-35	1	1	0
SLMAP	7871	broad.mit.edu	37	3	57850573	57850573	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:57850573G>A	uc003dje.1	+	10	1380	c.1175G>A	c.(1174-1176)tGc>tAc	p.C392Y	SLMAP_uc003djc.1_Missense_Mutation_p.C392Y|SLMAP_uc003djd.1_Intron|SLMAP_uc003djf.1_Intron|SLMAP_uc003djg.1_Intron	NM_007159	NP_009090	Q14BN4	SLMAP_HUMAN	Homo sapiens sarcolemma associated protein (SLMAP), mRNA.	392					muscle contraction|protein folding	integral to plasma membrane|microtubule organizing center|prefoldin complex|sarcolemma|smooth endoplasmic reticulum	unfolded protein binding			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(2)	18				BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182)		CTTAAAGAATGCAGCAGCTTG	0.308000														7			4		0	0	1	0	0
SPN	6693	broad.mit.edu	37	16	29675059	29675059	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:29675059C>T	uc021tgd.1	+	0	10	c.10C>T	c.(10-12)Ctt>Ttt	p.L4F	BOLA2_uc010bzb.1_Intron|SPN_uc002dtm.3_Missense_Mutation_p.L4F|SPN_uc002dtn.3_Missense_Mutation_p.L4F	NM_003123	NP_003114	P16150	LEUK_HUMAN	Homo sapiens sialophorin (SPN), transcript variant 2, mRNA.	4					blood coagulation|cellular defense response|chemotaxis|defense response to bacterium|establishment or maintenance of cell polarity|immune response|leukocyte migration|negative regulation of cell adhesion|positive regulation of tumor necrosis factor biosynthetic process	extracellular space|integral to plasma membrane	bacterial cell surface binding|transmembrane receptor activity			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|stomach(1)	15						AATGGCCACGCTTCTCCTTCT	0.627000														118			80		0	0	1	0	0
MYO15A	51168	broad.mit.edu	37	17	18023596	18023596	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:18023596G>T	uc021trm.1	+	0	1701	c.1482G>T	c.(1480-1482)gaG>gaT	p.E494D	MYO15A_uc021trl.1_Missense_Mutation_p.E494D	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	Homo sapiens myosin XVA (MYO15A), mRNA.	494	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	ATP binding|actin binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					AGAAGCTGGAGGTGCCCCTGC	0.632000														24			9		1.58986e-06	1.80238e-06	1	1	0
SMAD7	4092	broad.mit.edu	37	18	46448197	46448197	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:46448197G>A	uc002ldg.3	-	3	1113	c.826C>T	c.(826-828)Ctc>Ttc	p.L276F	SMAD7_uc002ldf.3_Missense_Mutation_p.L88F|SMAD7_uc010xde.2_Missense_Mutation_p.L61F|SMAD7_uc021ujr.1_Missense_Mutation_p.L275F	NM_005904	NP_005895	O15105	SMAD7_HUMAN	Homo sapiens SMAD family member 7 (SMAD7), transcript variant 1, mRNA.	276	MH2.				BMP signaling pathway|adherens junction assembly|artery morphogenesis|cellular protein complex localization|negative regulation of BMP signaling pathway|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of peptidyl-serine phosphorylation|negative regulation of peptidyl-threonine phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of ubiquitin-protein ligase activity|pathway-restricted SMAD protein phosphorylation|positive regulation of anti-apoptosis|positive regulation of cell-cell adhesion|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein stabilization|regulation of activin receptor signaling pathway|response to laminar fluid shear stress|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	centrosome|cytosol|nucleolus|plasma membrane|transcription factor complex	I-SMAD binding|activin binding|beta-catenin binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	10	Colorectal(1;0.0518)					ACACAGTAGAGCCTCCCCACT	0.532000														24			16		0	0	1	0	0
PAPOLA	10914	broad.mit.edu	37	14	96986534	96986534	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:96986534G>A	uc001yfq.3	+	1	368	c.151G>A	c.(151-153)Gtt>Att	p.V51I	PAPOLA_uc001yfp.3_Missense_Mutation_p.V51I|PAPOLA_uc001yfo.3_Missense_Mutation_p.V51I|PAPOLA_uc001yfr.3_Missense_Mutation_p.V51I|PAPOLA_uc010twv.2_Missense_Mutation_p.V51I|PAPOLA_uc010avp.3_5'UTR	NM_032632	NP_116021	P51003	PAPOA_HUMAN	Homo sapiens poly(A) polymerase alpha (PAPOLA), transcript variant 1, mRNA.	51					mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cytoplasm|nucleoplasm	ATP binding|RNA binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity			breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.213)		ACCCTTTGGGGTTTTTGAAGA	0.383000														81			11		0	0	1	0	0
AIMP1	9255	broad.mit.edu	37	4	107253040	107253040	+	Splice_Site	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:107253040G>T	uc003hyh.3	+	5	716	c.675_splice	c.e5+1	p.Q225_splice	AIMP1_uc011cfg.2_Splice_Site_p.Q201_splice|AIMP1_uc003hyg.3_Splice_Site_p.Q201_splice	NM_001142416	NP_004748	Q12904	AIMP1_HUMAN	Homo sapiens aminoacyl tRNA synthetase complex-interacting multifunctional protein 1 (AIMP1), transcript variant 3, mRNA.	201	tRNA-binding.				angiogenesis|apoptosis|cell adhesion|cell-cell signaling|chemotaxis|glucose metabolic process|inflammatory response|leukocyte migration|negative regulation of endothelial cell proliferation|signal transduction|tRNA aminoacylation for protein translation	Golgi apparatus|aminoacyl-tRNA synthetase multienzyme complex|cytosol|endoplasmic reticulum|extracellular space|nucleus|transport vesicle	cell surface binding|cytokine activity|protein homodimerization activity|tRNA binding			breast(1)|endometrium(2)|kidney(1)|lung(5)|skin(1)|urinary_tract(1)	11						CTCTTGAACAGGTAATCTGTA	0.393000														84			43		2.19962e-31	2.9054e-31	1	1	0
C20orf3	57136	broad.mit.edu	37	20	24952138	24952138	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:24952138C>T	uc002wtz.3	-	4	597	c.496G>A	c.(496-498)Gcc>Acc	p.A166T	C20orf3_uc002wty.3_Missense_Mutation_p.A166T|C20orf3_uc010zsw.2_Missense_Mutation_p.A166T	NM_020531	NP_065392	Q9HDC9	APMAP_HUMAN	Homo sapiens chromosome 20 open reading frame 3 (C20orf3), mRNA.	166					biosynthetic process	cell surface|integral to membrane	arylesterase activity|strictosidine synthase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)	21						TATGCATCGGCCACAAAGAGA	0.433000														41			22		0	0	1	0	0
COL28A1	340267	broad.mit.edu	37	7	7412808	7412808	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:7412808C>T	uc003src.1	-	31	2846	c.2729G>A	c.(2728-2730)cGt>cAt	p.R910H	COL28A1_uc011jxe.1_Missense_Mutation_p.R593H	NM_001037763	NP_001032852	Q2UY09	COSA1_HUMAN	Homo sapiens collagen, type XXVIII, alpha 1 (COL28A1), mRNA.	910	VWFA 2.				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		CTCTTTATCACGAGAATCTGT	0.453000														42			11		0	0	1	0	0
BRPF1	7862	broad.mit.edu	37	3	9775966	9775966	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:9775966G>A	uc003bse.3	+	1	541	c.142G>A	c.(142-144)Gac>Aac	p.D48N	BRPF1_uc003bsf.3_Missense_Mutation_p.D48N|BRPF1_uc003bsg.3_Missense_Mutation_p.D48N|BRPF1_uc011ati.2_Missense_Mutation_p.D48N	NM_004634	NP_004625	P55201	BRPF1_HUMAN	Homo sapiens bromodomain and PHD finger containing, 1 (BRPF1), transcript variant 2, mRNA.	48					histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|cytoplasm|plasma membrane	DNA binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					CTATGACCACGACAACCCACC	0.577000														44			40		0	0	1	0	0
BRWD3	254065	broad.mit.edu	37	X	79932253	79932253	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:79932253C>A	uc004edt.3	-	40	5527	c.5264G>T	c.(5263-5265)aGg>aTg	p.R1755M	BRWD3_uc010nmi.2_Non-coding_Transcript|BRWD3_uc004edp.3_Missense_Mutation_p.R1584M|BRWD3_uc004edq.3_Missense_Mutation_p.R1351M|BRWD3_uc010nmj.2_Missense_Mutation_p.R1351M|BRWD3_uc004edr.3_Missense_Mutation_p.R1425M|BRWD3_uc004eds.3_Missense_Mutation_p.R1351M|BRWD3_uc004edo.3_Missense_Mutation_p.R1351M|BRWD3_uc004edu.3_Missense_Mutation_p.R1425M|BRWD3_uc004edv.3_Missense_Mutation_p.R1351M|BRWD3_uc004edw.3_Missense_Mutation_p.R1351M|BRWD3_uc004edx.3_Missense_Mutation_p.R1351M|BRWD3_uc004edy.3_Missense_Mutation_p.R1351M|BRWD3_uc004edz.3_Missense_Mutation_p.R1425M|BRWD3_uc004eea.3_Missense_Mutation_p.R1425M|BRWD3_uc004eeb.3_Missense_Mutation_p.R1351M	NM_153252	NP_694984	Q6RI45	BRWD3_HUMAN	Homo sapiens bromodomain and WD repeat domain containing 3 (BRWD3), mRNA.	1755										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						TAAAACAGTCCTCCTGCCTTG	0.403000														56			10		4.68919e-08	5.46558e-08	1	1	0
LRRC23	10233	broad.mit.edu	37	12	7015617	7015617	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:7015617G>A	uc001qrt.4	+	3	673	c.281G>A	c.(280-282)cGc>cAc	p.R94H	LRRC23_uc009zfg.2_Non-coding_Transcript|LRRC23_uc001qrp.3_Missense_Mutation_p.R94H|LRRC23_uc001qrq.3_Missense_Mutation_p.R94H|LRRC23_uc001qrs.3_Missense_Mutation_p.R43H|LRRC23_uc009zfh.3_Missense_Mutation_p.R94H	NM_001135217	NP_964013	Q53EV4	LRC23_HUMAN	Homo sapiens leucine rich repeat containing 23 (LRRC23), transcript variant 3, mRNA.	94										NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	13						ATCCATCTGCGCTATGTGGAT	0.527000														245			206		0	0	1	0	0
MTHFR	4524	broad.mit.edu	37	1	11854129	11854129	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:11854129C>A	uc001atb.1	-	7	1632	c.1434G>T	c.(1432-1434)tgG>tgT	p.W478C	MTHFR_uc001atc.2_Missense_Mutation_p.W455C	NM_005957	NP_005948	P42898	MTHR_HUMAN	Homo sapiens methylenetetrahydrofolate reductase (NAD(P)H) (MTHFR), mRNA.	455					blood circulation|folic acid metabolic process	cytosol	methylenetetrahydrofolate reductase (NADPH) activity|protein binding			NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|Raltitrexed(DB00293)|Riboflavin(DB00140)|S-Adenosylmethionine(DB00118)|Tetrahydrofolic acid(DB00116)	GCTCATCGTTCCAGGGCAGGC	0.637000														40			30		2.12542e-12	2.62166e-12	1	1	0
MMP16	4325	broad.mit.edu	37	8	89053797	89053797	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:89053797G>T	uc003yeb.4	-	9	1998	c.1716C>A	c.(1714-1716)atC>atA	p.I572I		NM_005941	NP_005932	P51512	MMP16_HUMAN	Homo sapiens matrix metallopeptidase 16 (membrane-inserted) (MMP16), mRNA.	572					collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						ATAAGGCCAAGATGCAGGGAA	0.458000														95			8		0.000157383	0.000170012	1	1	0
ERLIN1	10613	broad.mit.edu	37	10	101911983	101911983	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:101911983C>A	uc001kqn.4	-	10	1303	c.952G>T	c.(952-954)Gat>Tat	p.D318Y	ERLIN1_uc001kqo.4_Missense_Mutation_p.D318Y|ERLIN1_uc010qpm.2_Missense_Mutation_p.D234Y	NM_006459	NP_006450	O75477	ERLN1_HUMAN	Homo sapiens ER lipid raft associated 1 (ERLIN1), mRNA.	316					ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane	protein binding	p.D316H(1)					Colorectal(252;0.234)		Epithelial(162;3.85e-10)|all cancers(201;3.25e-08)		GTCCTAATATCTGAATATTTC	0.443000														44			25		1.64293e-13	2.04531e-13	1	1	0
SLC44A1	23446	broad.mit.edu	37	9	108120657	108120657	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:108120657T>C	uc004bcn.3	+	6	924	c.703T>C	c.(703-705)Tat>Cat	p.Y235H	SLC44A1_uc004bco.1_Missense_Mutation_p.Y27H	NM_080546	NP_536856	Q8WWI5	CTL1_HUMAN	Homo sapiens solute carrier family 44, member 1 (SLC44A1), mRNA.	235						integral to membrane|mitochondrial outer membrane|plasma membrane	choline transmembrane transporter activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	38					Choline(DB00122)	GATAATCAGGTATATATCAAG	0.333000														59			41		0	0	1	0	0
LOC646214	646214	broad.mit.edu	37	15	21936592	21936592	+	RNA	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:21936592C>T	uc010tzj.1	-	0		c.4148G>A								Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 2 pseudogene (LOC646214), non-coding RNA.																		TCTTTAGCTGCCATGATCAGT	0.373000														114			27		0	0	1	0	0
ABCC4	10257	broad.mit.edu	37	13	95735409	95735409	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:95735409G>A	uc001vmd.4	-	20	2790	c.2671C>T	c.(2671-2673)Cgc>Tgc	p.R891C	ABCC4_uc010afk.3_Missense_Mutation_p.R844C	NM_005845	NP_005836	O15439	MRP4_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 4 (ABCC4), transcript variant 1, mRNA.	891	ABC transmembrane type-1 2.				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	GATTCCAGGCGCTTCACATCT	0.438000														39			16		0	0	1	0	0
ATP6V1B1	525	broad.mit.edu	37	2	71170823	71170823	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:71170823G>A	uc002shj.3	+	1	241	c.154G>A	c.(154-156)Gtg>Atg	p.V52M	ATP6V1B1_uc002shi.1_Missense_Mutation_p.V52M|ATP6V1B1_uc010fdx.3_5'UTR	NM_001692	NP_001683	P15313	VATB1_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1 (ATP6V1B1), mRNA.	52					ATP hydrolysis coupled proton transport|calcium ion homeostasis|cellular iron ion homeostasis|excretion|inner ear morphogenesis|insulin receptor signaling pathway|ossification|pH reduction|sensory perception of sound|transferrin transport	apical plasma membrane|basolateral plasma membrane|cytosol|endomembrane system|lateral plasma membrane|microvillus|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(1)	19						CGGGCCCCTGGTGGTGCTGGA	0.627000														20			10		0	0	1	0	0
MGAT3	4248	broad.mit.edu	37	22	39884759	39884759	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:39884759G>A	uc003axv.4	+	1	1646	c.1407G>A	c.(1405-1407)caG>caA	p.Q469Q	MGAT3_uc010gxy.3_Silent_p.Q469Q	NM_002409	NP_002400	Q09327	MGAT3_HUMAN	Homo sapiens mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase (MGAT3), transcript variant 1, mRNA.	469					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity			endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24	Melanoma(58;0.04)					ACGGCACGCAGCAGGAGTACC	0.627000														9			8		0	0	1	0	0
TRIM39-RPP21	202658	broad.mit.edu	37	6	30313002	30313002	+	Nonsense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:30313002C>A	uc003nqd.2	+	0	67	c.54C>A	c.(52-54)taC>taA	p.Y18*	TRIM39-RPP21_uc010jsa.2_Intron|TRIM39-RPP21_uc003nqf.2_Nonsense_Mutation_p.Y18*|TRIM39-RPP21_uc021yuc.1_Nonsense_Mutation_p.Y18*|TRIM39-RPP21_uc003nqe.2_Nonsense_Mutation_p.Y18*	NM_024839	NP_079115	A6ZJ12	A6ZJ12_HUMAN	Homo sapiens ribonuclease P/MRP 21kDa subunit (RPP21), transcript variant 2, mRNA.	0						intracellular	zinc ion binding										ACTTCCTGTACCAGGTGAGTC	0.711000														4			4		0.00909568	0.00940365	1	1	0
C2orf62	375307	broad.mit.edu	37	2	219221579	219221579	+	Splice_Site	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:219221579C>T	uc002vhr.3	+	1	1	c.-28_splice	c.e1-1			NM_198559	NP_940961	Q7Z7H3	CB062_HUMAN	Homo sapiens chromosome 2 open reading frame 62 (C2orf62), mRNA.											endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16		Renal(207;0.0915)		Epithelial(149;8.08e-07)|all cancers(144;0.000146)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GACAGCTGGACACAGACCGGG	0.577000														38			4		0	0	1	0	0
SRSF4	6429	broad.mit.edu	37	1	29475269	29475269	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:29475269G>A	uc001bro.3	-	5	1511	c.1138C>T	c.(1138-1140)Cga>Tga	p.R380*	SRSF4_uc010ofy.2_3'UTR	NM_005626	NP_005617	Q08170	SRSF4_HUMAN	Homo sapiens serine/arginine-rich splicing factor 4 (SRSF4), mRNA.	380	Arg/Ser-rich (RS domain).				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nuclear speck	RNA binding|nucleotide binding	p.R380*(2)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(1)	27						ttgctgcctcgctttctgctc	0.592000														49			21		0	0	1	0	0
ARHGEF17	9828	broad.mit.edu	37	11	73071440	73071440	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:73071440G>A	uc001otu.3	+	10	4303	c.4282G>A	c.(4282-4284)Gcg>Acg	p.A1428T		NM_014786	NP_055601	Q96PE2	ARHGH_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 17 (ARHGEF17), mRNA.	1428					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						GCTGTGCTACGCGCTTTCCTT	0.657000														94			51		0	0	1	0	0
C5orf42	65250	broad.mit.edu	37	5	37196095	37196095	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:37196095G>A	uc011cpa.1	-	20	3907	c.3676C>T	c.(3676-3678)Cga>Tga	p.R1226*	C5orf42_uc003jks.2_Non-coding_Transcript|C5orf42_uc011coz.1_Nonsense_Mutation_p.R301*|C5orf42_uc011cpb.1_Nonsense_Mutation_p.R107*	NM_023073	NP_075561	E9PH94	E9PH94_HUMAN	Homo sapiens chromosome 5 open reading frame 42 (C5orf42), mRNA.	1226										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			CCTTTCATTCGAATCTAAAAG	0.358000														33			21		0	0	1	0	0
MYLK3	91807	broad.mit.edu	37	16	46771765	46771765	+	Nonsense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:46771765C>A	uc002eei.4	-	2	975	c.859G>T	c.(859-861)Gga>Tga	p.G287*	MYLK3_uc010vge.2_Intron|MYLK3_uc002eej.1_5'UTR	NM_182493	NP_872299	Q32MK0	MYLK3_HUMAN	Homo sapiens myosin light chain kinase 3 (MYLK3), mRNA.	287					cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				GACGATGCTCCTTGTCCTGCA	0.662000														89			12		2.80697e-09	3.3309e-09	1	1	0
MS4A3	932	broad.mit.edu	37	11	59828745	59828745	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:59828745G>T	uc001nom.3	+	1	240	c.112G>T	c.(112-114)Gat>Tat	p.D38Y	MS4A3_uc001non.3_Missense_Mutation_p.D38Y|MS4A3_uc001noo.3_Intron	NM_006138	NP_006129	Q96HJ5	MS4A3_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 3 (hematopoietic cell-specific) (MS4A3), transcript variant 1, mRNA.	38				D -> N (in Ref. 1; AAA62319).		endomembrane system|integral to membrane|perinuclear region of cytoplasm	protein binding|receptor activity			endometrium(4)|kidney(2)|lung(9)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		all_epithelial(135;0.245)				CCAGCCCATAGATGGATCACC	0.453000														59			36		1.47244e-24	1.92332e-24	1	1	0
OR10J3	441911	broad.mit.edu	37	1	159284307	159284307	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:159284307G>A	uc010piu.2	-	0	143	c.143C>T	c.(142-144)aCc>aTc	p.T48I		NM_001004467	NP_001004467	Q5JRS4	O10J3_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily J, member 3 (OR10J3), mRNA.	48					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					GCGAATAATGGTCATGATAAT	0.478000														170			9		0	0	1	0	0
CSDE1	7812	broad.mit.edu	37	1	115273208	115273208	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:115273208C>T	uc001efi.3	-	11	1772	c.1250G>A	c.(1249-1251)cGt>cAt	p.R417H	CSDE1_uc001efj.3_Non-coding_Transcript|CSDE1_uc001efk.3_Missense_Mutation_p.R371H|CSDE1_uc001efm.3_Missense_Mutation_p.R386H|CSDE1_uc009wgv.3_Missense_Mutation_p.R371H|CSDE1_uc001efl.3_Missense_Mutation_p.R340H|CSDE1_uc001efn.3_Missense_Mutation_p.R340H	NM_001242891	NP_001229820	O75534	CSDE1_HUMAN	Homo sapiens cold shock domain containing E1, RNA-binding (CSDE1), transcript variant 4, mRNA.	371					male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|RNA binding|protein binding			NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAAGAACATACGAACATCACG	0.418000														63			11		0	0	1	0	0
C5	727	broad.mit.edu	37	9	123783855	123783855	+	Missense_Mutation	SNP	G	A	A	rs148822412		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:123783855G>A	uc004bkv.3	-	10	1264	c.1234C>T	c.(1234-1236)Cgt>Tgt	p.R412C	C5_uc010mvm.1_Missense_Mutation_p.R412C|C5_uc010mvn.1_Missense_Mutation_p.R412C	NM_001735	NP_001726	P01031	CO5_HUMAN	Homo sapiens complement component 5 (C5), mRNA.	412					G-protein coupled receptor protein signaling pathway|activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity	p.R412L(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	TCATCAACACGTGTTACACTT	0.438000														45			37		0	0	1	0	0
MICA	100507436	broad.mit.edu	37	6	31378368	31378368	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31378368C>A	uc003ntk.1	+	1	158	c.119C>A	c.(118-120)tCt>tAt	p.S40Y	MICA_uc003rxz.1_5'UTR|MICA_uc021yun.1_5'UTR|MICA_uc021yuo.1_5'UTR	NM_001177519	NP_001170990	Q29983	MICA_HUMAN	Homo sapiens MHC class I polypeptide-related sequence A (MICA), transcript variant 1 (allele MICA*00801), mRNA.	40					antigen processing and presentation|cytolysis|defense response to bacterium|defense response to virus|gamma-delta T cell activation|immune response to tumor cell|response to DNA damage stimulus|response to heat|stimulatory C-type lectin receptor signaling pathway	MHC class I protein complex|cell surface|cytoplasm|extracellular space|integral to plasma membrane	natural killer cell lectin-like receptor binding			breast(1)|endometrium(3)|kidney(1)	5		Ovarian(999;0.0253)				TGGGATGGATCTGTGCAGTCA	0.532000														18			12		9.31168e-06	1.03939e-05	1	1	0
DST	667	broad.mit.edu	37	6	56374499	56374499	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:56374499T>C	uc003pcy.4	-	54	11192	c.11084A>G	c.(11083-11085)cAg>cGg	p.Q3695R		NM_015548	NP_056363	Q03001	DYST_HUMAN	Homo sapiens dystonin (DST), transcript variant 1eA, mRNA.	6107					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	Z disc|actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein C-terminus binding|protein binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CTCTCCCCTCTGTTTAAGAGT	0.388000														30			15		0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62285453	62285453	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:62285453C>T	uc001ntl.3	-	4	16736	c.16436G>A	c.(16435-16437)gGt>gAt	p.G5479D	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	5479	Gly-rich.				nervous system development	nucleus	protein binding	p.G5478G(1)		NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GCCTGGAAGACCTCCTCCGAC	0.517000														61			32		0	0	1	0	0
ZNF799	90576	broad.mit.edu	37	19	12502896	12502896	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:12502896G>A	uc010dyt.3	-	3	520	c.316C>T	c.(316-318)Cgt>Tgt	p.R106C	ZNF799_uc002mts.4_Intron	NM_001080821	NP_001074290	Q96GE5	ZN799_HUMAN	Homo sapiens zinc finger protein 799 (ZNF799), mRNA.	106					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						CCACTCATACGGCTTTCATAT	0.413000														51			30		0	0	1	0	0
AKNAD1	254268	broad.mit.edu	37	1	109394579	109394579	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:109394579C>A	uc001dwa.3	-	1	977	c.708G>T	c.(706-708)caG>caT	p.Q236H	AKNAD1_uc010ovb.2_Intron|AKNAD1_uc001dwb.3_Non-coding_Transcript	NM_152763	NP_689976	Q5T1N1	AKND1_HUMAN	Homo sapiens AKNA domain containing 1 (AKNAD1), mRNA.	236										breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						TTTCAGTCTGCTGTTTCTGGG	0.418000														206			15		3.45872e-05	3.81293e-05	1	1	0
DOPEY2	9980	broad.mit.edu	37	21	37583875	37583875	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:37583875T>C	uc002yvg.3	+	5	785	c.706T>C	c.(706-708)Ttg>Ctg	p.L236L	DOPEY2_uc011aeb.2_Silent_p.L236L	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN	Homo sapiens dopey family member 2 (DOPEY2), mRNA.	236					Golgi to endosome transport|endoplasmic reticulum organization|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TGCCTCCCTGTTGGACTCAAA	0.398000														77			43		0	0	1	0	0
EIF2C4	192670	broad.mit.edu	37	1	36299618	36299618	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:36299618C>T	uc001bzj.2	+	11	1597	c.1407C>T	c.(1405-1407)atC>atT	p.I469I		NM_017629	NP_060099	Q9HCK5	AGO4_HUMAN	Homo sapiens eukaryotic translation initiation factor 2C, 4 (EIF2C4), mRNA.	469					mRNA catabolic process|negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|cytosol	RNA binding|protein binding			breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TGCGTAAAATCTCTAAGGATG	0.408000														48			34		0	0	1	0	0
LIN54	132660	broad.mit.edu	37	4	83905871	83905871	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:83905871C>T	uc003hnx.3	-	1	505	c.127G>A	c.(127-129)Gaa>Aaa	p.E43K	LIN54_uc003hnz.3_Intron|LIN54_uc003hny.3_Intron|LIN54_uc010ijt.2_Missense_Mutation_p.E43K|LIN54_uc010iju.2_5'UTR|LIN54_uc010ijv.2_Intron	NM_194282	NP_919258	Q6MZP7	LIN54_HUMAN	Homo sapiens lin-54 homolog (C. elegans) (LIN54), transcript variant 1, mRNA.	43					cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)	14		Hepatocellular(203;0.114)				TCTTCCAGTTCTGTCTCCATG	0.413000														51			28		0	0	1	0	0
L1CAM	3897	broad.mit.edu	37	X	153128322	153128322	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153128322G>A	uc004fjb.3	-	27	3678	c.3570C>T	c.(3568-3570)agC>agT	p.S1190S	L1CAM_uc004fjc.3_Silent_p.S1186S|L1CAM_uc010nuo.3_Silent_p.S1181S	NM_000425	NP_000416	P32004	L1CAM_HUMAN	Homo sapiens L1 cell adhesion molecule (L1CAM), transcript variant 1, mRNA.	1190					axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ATGGCTGGCTGCTGCCAAAGG	0.632000														10			7		0	0	1	0	0
GLB1	2720	broad.mit.edu	37	3	33099698	33099698	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:33099698G>A	uc011axk.1	-	6	877	c.760C>T	c.(760-762)Cgc>Tgc	p.R254C	GLB1_uc003cfh.1_Missense_Mutation_p.R176C|GLB1_uc003cfi.1_Missense_Mutation_p.R206C|GLB1_uc003cfj.1_Intron	NM_001079811	NP_001073279	P16278	BGAL_HUMAN	Homo sapiens galactosidase, beta 1 (GLB1), transcript variant 2, mRNA.	206					carbohydrate metabolic process	lysosome|perinuclear region of cytoplasm	beta-galactosidase activity|cation binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	21		Melanoma(143;0.104)				TGGCGAAAGCGCTTCTGCAGG	0.483000														25			12		0	0	1	0	0
PAX7	5081	broad.mit.edu	37	1	19029660	19029660	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:19029660C>T	uc001bay.3	+	6	1623	c.1025C>T	c.(1024-1026)gCg>gTg	p.A342V	PAX7_uc001baz.3_Missense_Mutation_p.A340V|PAX7_uc010oct.2_Missense_Mutation_p.A342V	NM_002584	NP_002575	P23759	PAX7_HUMAN	Homo sapiens paired box 7 (PAX7), transcript variant 1, mRNA.	342	Poly-Ala.				anti-apoptosis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.A341S(1)	PAX7/FOXO1(197)	breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)	31		Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576)		CTGGCTGCAGCGGCTGCAGCC	0.657000			T	FOXO1A	alveolar rhabdomyosarcoma									13			9		0	0	1	0	0
CELA2B	51032	broad.mit.edu	37	1	15802621	15802621	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:15802621A>G	uc001awl.3	+	0	26	c.1A>G	c.(1-3)Atg>Gtg	p.M1V		NM_015849	NP_056933	P08218	CEL2B_HUMAN	Homo sapiens chymotrypsin-like elastase family, member 2B (CELA2B), mRNA.	1					proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)	8						CGGACACACCATGATTAGGAC	0.547000														48			4		0	0	1	0	0
GRM2	2912	broad.mit.edu	37	3	51747018	51747018	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:51747018T>G	uc010hlv.3	+	2	1219	c.980T>G	c.(979-981)tTt>tGt	p.F327C	GRM2_uc003dbo.4_Intron|GRM2_uc010hlu.3_Non-coding_Transcript	NM_000839	NP_000830	Q14416	GRM2_HUMAN	Homo sapiens glutamate receptor, metabotropic 2 (GRM2), transcript variant 1, mRNA.	327					synaptic transmission	integral to plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acamprosate(DB00659)|Nicotine(DB00184)	ATCAGTGACTTTGCCTCCTAC	0.617000														52			8		0	0	1	0	0
CAPN6	827	broad.mit.edu	37	X	110494308	110494308	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:110494308C>T	uc004epc.2	-	7	1186	c.995G>A	c.(994-996)cGc>cAc	p.R332H	CAPN6_uc011msu.2_Missense_Mutation_p.R77H	NM_014289	NP_055104	Q9Y6Q1	CAN6_HUMAN	Homo sapiens calpain 6 (CAPN6), mRNA.	332	Calpain catalytic.				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding	p.R332L(2)		cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						GTGAAAGTTGCGGCAAAAGTC	0.438000														239			173		0	0	1	0	0
RAB14	51552	broad.mit.edu	37	9	123949285	123949285	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:123949285A>G	uc004blc.3	-	4	753	c.297T>C	c.(295-297)taT>taC	p.Y99Y		NM_016322	NP_057406	P61106	RAB14_HUMAN	Homo sapiens RAB14, member RAS oncogene family (RAB14), mRNA.	99					Golgi to endosome transport|embryo development|fibroblast growth factor receptor signaling pathway|neurotransmitter secretion|protein transport|small GTPase mediated signal transduction	Golgi membrane|Golgi stack|cytosol|early endosome membrane|late endosome|lysosome|membrane fraction|nuclear outer membrane-endoplasmic reticulum membrane network|perinuclear region of cytoplasm|rough endoplasmic reticulum|trans-Golgi network transport vesicle	GDP binding|GTP binding|GTPase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5						TTAAGTGGTTATATGTACTTC	0.269000														79			7		0	0	1	0	0
FBN2	2201	broad.mit.edu	37	5	127674749	127674749	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:127674749G>A	uc003kuu.3	-	25	3787	c.3348C>T	c.(3346-3348)atC>atT	p.I1116I	FBN2_uc003kuv.2_Silent_p.I1083I	NM_001999	NP_001990	P35556	FBN2_HUMAN	Homo sapiens fibrillin 2 (FBN2), mRNA.	1116	EGF-like 16; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TGCACTCGTCGATGTCTAATT	0.458000														36			28		0	0	1	0	0
ZNF44	51710	broad.mit.edu	37	19	12383872	12383872	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:12383872T>C	uc010xmj.2	-	4	1547	c.1342A>G	c.(1342-1344)Aaa>Gaa	p.K448E	ZNF44_uc002mtl.3_Intron|ZNF44_uc010xmi.2_Non-coding_Transcript|ZNF44_uc002mtn.4_Non-coding_Transcript|ZNF44_uc010dys.3_Missense_Mutation_p.K400E	NM_001164276	NP_001157748	P15621	ZNF44_HUMAN	Homo sapiens zinc finger protein 44 (ZNF44), transcript variant 1, mRNA.	448					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)	1		Renal(1328;0.157)		GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179)		TCAAAGGCTTTCCCACATACT	0.438000														44			5		0	0	1	0	0
TJAP1	93643	broad.mit.edu	37	6	43472904	43472904	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:43472904C>T	uc003ovd.2	+	10	1361	c.985C>T	c.(985-987)Cgc>Tgc	p.R329C	TJAP1_uc003ovf.2_Missense_Mutation_p.R319C|TJAP1_uc003ove.2_Missense_Mutation_p.R319C|TJAP1_uc003ovc.2_Missense_Mutation_p.R319C|TJAP1_uc010jyp.2_Missense_Mutation_p.R288C|TJAP1_uc011dvh.1_Missense_Mutation_p.R319C|TJAP1_uc003ovg.2_Missense_Mutation_p.R195C|TJAP1_uc011dvi.1_Missense_Mutation_p.R329C|TJAP1_uc011dvj.2_Missense_Mutation_p.R129C|TJAP1_uc003ovi.2_Missense_Mutation_p.R195C	NM_001146016	NP_001139489	Q5JTD0	TJAP1_HUMAN	Homo sapiens tight junction associated protein 1 (peripheral) (TJAP1), transcript variant 1, mRNA.	329						Golgi apparatus|tight junction	protein binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|urinary_tract(2)	21	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0122)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			GTATCCTGGCCGCAGGGTAAT	0.617000														30			21		0	0	1	0	0
SCFD2	152579	broad.mit.edu	37	4	53740162	53740162	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:53740162G>A	uc003gzu.3	-	8	2163	c.2029C>T	c.(2029-2031)Cga>Tga	p.R677*	SCFD2_uc010igm.3_Nonsense_Mutation_p.R632*	NM_152540	NP_689753	Q8WU76	SCFD2_HUMAN	Homo sapiens sec1 family domain containing 2 (SCFD2), mRNA.	677					protein transport|vesicle docking involved in exocytosis			p.R677Q(1)		breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	30			GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)			GGATGCAGTCGGTCAGTTGCA	0.493000														59			4		0	0	1	0	0
THAP1	55145	broad.mit.edu	37	8	42694369	42694369	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:42694369G>T	uc003xpk.3	-	1	464	c.227C>A	c.(226-228)gCt>gAt	p.A76D	THAP1_uc003xpl.3_Intron	NM_018105	NP_060575	Q9NVV9	THAP1_HUMAN	Homo sapiens THAP domain containing, apoptosis associated protein 1 (THAP1), transcript variant 1, mRNA.	76					cell cycle|endothelial cell proliferation|regulation of mitotic cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	sequence-specific DNA binding|zinc ion binding			NS(1)|lung(4)|prostate(1)|skin(1)	7	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Acute lymphoblastic leukemia(644;0.000299)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0377)|LUSC - Lung squamous cell carcinoma(45;0.0869)			TGTGGGCACAGCATTCTCTTT	0.353000														80			46		6.61955e-31	8.73947e-31	1	1	0
FAF1	11124	broad.mit.edu	37	1	51210375	51210375	+	Missense_Mutation	SNP	G	A	A	rs149117642		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:51210375G>A	uc001cse.1	-	4	893	c.440C>T	c.(439-441)aCg>aTg	p.T147M	FAF1_uc009vyw.1_Non-coding_Transcript	NM_007051	NP_008982	Q9UNN5	FAF1_HUMAN	Homo sapiens Fas (TNFRSF6) associated factor 1 (FAF1), mRNA.	147					apoptosis|cytoplasmic sequestering of NF-kappaB|positive regulation of apoptosis|positive regulation of protein complex assembly|proteasomal ubiquitin-dependent protein catabolic process|regulation of protein catabolic process	CD95 death-inducing signaling complex|cytosol|perinuclear region of cytoplasm	NF-kappaB binding|heat shock protein binding|protein kinase binding|protein kinase regulator activity	p.0?(2)		breast(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)		CACATCTCCCGTCTTCCAGCC	0.299000														98			8		0	0	1	0	0
RAB40AL	282808	broad.mit.edu	37	X	102192394	102192394	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:102192394G>A	uc004ejs.3	+	0	195	c.148G>A	c.(148-150)Gac>Aac	p.D50N		NM_001031834	NP_001027004	P0C0E4	RB40L_HUMAN	Homo sapiens RAB40A, member RAS oncogene family-like (RAB40AL), mRNA.	50					protein transport|small GTPase mediated signal transduction	mitochondrion|plasma membrane	GTP binding			endometrium(4)|large_intestine(2)|lung(3)|ovary(3)	12						GGGGGGAATCGACTACAAGAC	0.607000														76			42		0	0	1	0	0
SRR	63826	broad.mit.edu	37	17	2222127	2222127	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:2222127T>C	uc002fue.1	+	3	371	c.303T>C	c.(301-303)ccT>ccC	p.P101P	SRR_uc002fui.1_5'UTR	NM_021947	NP_068766	Q9GZT4	SRR_HUMAN	Homo sapiens serine racemase (SRR), mRNA.	101					D-serine biosynthetic process|L-serine metabolic process|protein homotetramerization|pyruvate biosynthetic process|response to lipopolysaccharide	cytoplasm|neuronal cell body|soluble fraction	ATP binding|D-serine ammonia-lyase activity|L-serine ammonia-lyase activity|PDZ domain binding|calcium ion binding|glycine binding|magnesium ion binding|protein homodimerization activity|pyridoxal phosphate binding|serine racemase activity|threonine racemase activity			NS(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;3.24e-06)|READ - Rectum adenocarcinoma(1115;0.0649)	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	CAGGAATTCCTGCTTATATTG	0.458000														238			14		0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7637893	7637893	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7637893G>A	uc002giu.1	+	5	859	c.845G>A	c.(844-846)cGc>cAc	p.R282H	DNAH2_uc002git.3_Missense_Mutation_p.R282H|DNAH2_uc010vuk.2_Missense_Mutation_p.R282H	NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	282	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GAGTTCTGGCGCAACCGATGC	0.527000														29			19		0	0	1	0	0
PRMT10	90826	broad.mit.edu	37	4	148591866	148591866	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:148591866C>T	uc003ilc.3	-	4	914	c.772G>A	c.(772-774)Gat>Aat	p.D258N	PRMT10_uc003ild.3_Missense_Mutation_p.D145N	NM_138364	NP_612373	Q6P2P2	ANM10_HUMAN	Homo sapiens protein arginine methyltransferase 10 (putative) (PRMT10), mRNA.	258						cytoplasm	binding|protein methyltransferase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						AAACCTGCATCGACAGTTTCT	0.328000														56			32		0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	71025246	71025246	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:71025246G>A	uc002ezr.3	-	24	3990	c.3839C>T	c.(3838-3840)aCg>aTg	p.T1280M		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	1280								p.T1280K(1)|p.T1232K(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GGAAGCTTTCGTTTTTCTTAG	0.463000														42			29		0	0	1	0	0
PNISR	25957	broad.mit.edu	37	6	99848985	99848985	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:99848985G>A	uc003ppo.4	-	11	2077	c.1849C>T	c.(1849-1851)Cgt>Tgt	p.R617C	PNISR_uc021zdc.1_5'Flank|PNISR_uc021zdd.1_5'UTR|PNISR_uc003ppp.4_Missense_Mutation_p.R617C|PNISR_uc011eag.2_Missense_Mutation_p.R617C	NM_032870	NP_116259	Q8TF01	PNISR_HUMAN	Homo sapiens PNN-interacting serine/arginine-rich protein (PNISR), transcript variant 1, mRNA.	617						nuclear speck				breast(2)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						CTACTTCTACGTCTCTCTCGG	0.443000														51			40		0	0	1	0	0
RNF40	9810	broad.mit.edu	37	16	30780680	30780680	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:30780680G>T	uc002dzq.3	+	15	3241	c.2421G>T	c.(2419-2421)aaG>aaT	p.K807N	RNF40_uc010caa.3_Missense_Mutation_p.K807N|RNF40_uc010cab.3_Missense_Mutation_p.K707N|RNF40_uc010vfa.2_Missense_Mutation_p.K139N|RNF40_uc010vfb.2_Missense_Mutation_p.K499N|RNF40_uc002dzr.3_Missense_Mutation_p.K807N|RNF40_uc010vfc.1_Missense_Mutation_p.K139N	NM_014771	NP_055586	O75150	BRE1B_HUMAN	Homo sapiens ring finger protein 40 (RNF40), transcript variant 1, mRNA.	807					histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process	nucleus|synaptosome|ubiquitin ligase complex	protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30			Colorectal(24;0.198)			GGGAGGAGAAGGATGAGTTGG	0.587000														80			8		0.0381472	0.0388409	1	1	0
PIBF1	10464	broad.mit.edu	37	13	73505372	73505372	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:73505372T>G	uc001vjc.3	+	13	2105	c.1800T>G	c.(1798-1800)caT>caG	p.H600Q	PIBF1_uc001vjb.3_Missense_Mutation_p.H600Q|PIBF1_uc010aep.3_Missense_Mutation_p.H59Q	NM_006346	NP_006337	Q8WXW3	PIBF1_HUMAN	Homo sapiens progesterone immunomodulatory binding factor 1 (PIBF1), mRNA.	600				DLEHRKDQVTQLSQELDR -> RSGTSKGPSNTAFTRSLTE (in Ref. 3; AAQ67659).		centrosome				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)		GBM - Glioblastoma multiforme(99;0.000664)		ATCTGGAACATCGAAAGGACC	0.313000														36			5		0	0	1	0	0
TBC1D15	64786	broad.mit.edu	37	12	72278787	72278787	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:72278787T>C	uc001swu.3	+	4	615	c.540T>C	c.(538-540)taT>taC	p.Y180Y	TBC1D15_uc009zrv.2_Silent_p.Y81Y|TBC1D15_uc001sww.3_Intron|TBC1D15_uc010stt.2_Silent_p.Y188Y|TBC1D15_uc001swv.3_Silent_p.Y180Y	NM_022771	NP_073608	Q8TC07	TBC15_HUMAN	Homo sapiens TBC1 domain family, member 15 (TBC1D15), transcript variant 1, mRNA.	180							Rab GTPase activator activity|protein binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TTGAAAAATATGTGGTATTGT	0.353000														66			5		0	0	1	0	0
SLC4A8	9498	broad.mit.edu	37	12	51853776	51853776	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:51853776G>T	uc001rys.1	+	7	1075	c.897G>T	c.(895-897)gaG>gaT	p.E299D	SLC4A8_uc010sni.2_Missense_Mutation_p.E246D|SLC4A8_uc001rym.3_Missense_Mutation_p.E246D|SLC4A8_uc001ryn.3_Missense_Mutation_p.E246D|SLC4A8_uc001ryo.2_Missense_Mutation_p.E246D|SLC4A8_uc001ryp.1_Missense_Mutation_p.E246D|SLC4A8_uc010snj.2_Missense_Mutation_p.E326D|SLC4A8_uc001ryq.4_Missense_Mutation_p.E299D|SLC4A8_uc001ryr.3_Missense_Mutation_p.E299D|SLC4A8_uc010snk.2_Missense_Mutation_p.E246D	NM_001039960	NP_001035049	Q2Y0W8	S4A8_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 8 (SLC4A8), transcript variant 1, mRNA.	299					bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		CTGGGGCCGAGGCCTCCAATG	0.458000														169			20		2.39187e-15	3.01214e-15	1	1	0
B4GALNT3	283358	broad.mit.edu	37	12	665976	665976	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:665976G>A	uc001qii.1	+	14	2324	c.2324G>A	c.(2323-2325)tGc>tAc	p.C775Y	B4GALNT3_uc001qik.1_Missense_Mutation_p.C324Y	NM_173593	NP_775864	Q6L9W6	B4GN3_HUMAN	Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 3 (B4GALNT3), mRNA.	775						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			CCCAAGCTGTGCTGGCCTCAG	0.652000														17			10		0	0	1	0	0
CYP4Z1	199974	broad.mit.edu	37	1	47548008	47548008	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:47548008C>T	uc001cqu.1	+	3	370	c.367C>T	c.(367-369)Cga>Tga	p.R123*		NM_178134	NP_835235	Q86W10	CP4Z1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily Z, polypeptide 1 (CYP4Z1), mRNA.	123						endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						TTCATAAGGTCGAGGACTTGT	0.448000														31			17		0	0	1	0	0
POU5F2	134187	broad.mit.edu	37	5	93076611	93076611	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:93076611C>T	uc003kkl.1	-	0	699	c.659G>A	c.(658-660)cGa>cAa	p.R220Q	FAM172A_uc010jbd.3_Intron|FAM172A_uc011cuf.2_Intron|FAM172A_uc011cug.2_Intron|FAM172A_uc011cuh.2_Intron|FAM172A_uc011cui.2_Intron|FAM172A_uc011cuj.2_Intron	NM_153216	NP_694948	Q8N7G0	PO5F2_HUMAN	Homo sapiens POU domain class 5, transcription factor 2 (POU5F2), mRNA.	220						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity						all_cancers(142;3.87e-05)|all_epithelial(76;4.59e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0415)|all cancers(79;2.03e-19)		GTTTCCGATTCGTCGCTCTCT	0.547000														34			20		0	0	1	0	0
TTC6	319089	broad.mit.edu	37	14	38266099	38266099	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:38266099A>C	uc001wuj.3	+	2	268	c.166A>C	c.(166-168)Atg>Ctg	p.M56L	TTC6_uc001wug.3_Intron|TTC6_uc001wuh.3_Missense_Mutation_p.M56L|TTC6_uc001wui.3_Non-coding_Transcript					SubName: Full=TTC6 protein;									p.E56E(1)|p.E56K(1)		central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	14	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;1.59e-06)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0543)|all cancers(34;0.108)|BRCA - Breast invasive adenocarcinoma(188;0.156)|LUSC - Lung squamous cell carcinoma(13;0.176)	GBM - Glioblastoma multiforme(112;0.00551)		TAGAGCTGAGATGACCATGTG	0.403000														44			6		0	0	1	0	0
GPHN	10243	broad.mit.edu	37	14	67646313	67646313	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:67646313C>T	uc001xiy.3	+	20	3120	c.1999C>T	c.(1999-2001)Ctt>Ttt	p.L667F	GPHN_uc001xix.3_Missense_Mutation_p.L700F|GPHN_uc010tss.2_Missense_Mutation_p.L713F|GPHN_uc010tst.2_Missense_Mutation_p.L636F|GPHN_uc010tsu.2_Missense_Mutation_p.L590F	NM_001024218	NP_001019389	Q9NQX3	GEPH_HUMAN	Homo sapiens gephyrin (GPHN), transcript variant 2, mRNA.	667	MPT adenylyltransferase.				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cell junction|cytoplasm|cytoskeleton|postsynaptic membrane	ATP binding|metal ion binding|nucleotidyltransferase activity			large_intestine(8)|liver(1)|ovary(2)|stomach(1)	12		all_cancers(7;0.0476)|all_hematologic(31;0.0116)		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)		TGATGTAAAACTTGATCCTCG	0.393000			T	MLL	AL									36			21		0	0	1	0	0
TOPBP1	11073	broad.mit.edu	37	3	133362997	133362997	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:133362997G>A	uc003eps.3	-	10	1847	c.1715C>T	c.(1714-1716)gCa>gTa	p.A572V		NM_007027	NP_008958	Q92547	TOPB1_HUMAN	Homo sapiens topoisomerase (DNA) II binding protein 1 (TOPBP1), mRNA.	572	BRCT 4.				DNA repair|response to ionizing radiation	PML body|microtubule organizing center|spindle pole	DNA binding|protein C-terminus binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						TATGATGTTTGCGATGTTAGA	0.403000								Other conserved DNA damage response genes						26			13		0	0	1	0	0
RPN2	6185	broad.mit.edu	37	20	35812582	35812582	+	Splice_Site	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:35812582G>T	uc002xgp.3	+	2	318	c.14_splice	c.e2-1	p.G5_splice	RPN2_uc010gfw.2_Splice_Site|RPN2_uc002xgq.3_Splice_Site_p.G5_splice	NM_002951	NP_002942	P04844	RPN2_HUMAN	Homo sapiens ribophorin II (RPN2), transcript variant 1, mRNA.	5					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|nucleus|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(2)|stomach(1)	24		Myeloproliferative disorder(115;0.00878)				TTCCCCCCAAGGTTCAAGCAC	0.502000														38			19		6.94344e-10	8.32448e-10	1	1	0
SIGLEC16	400709	broad.mit.edu	37	19	50475318	50475318	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:50475318G>A	uc010ybk.1	+	2	349	c.243G>A	c.(241-243)ccG>ccA	p.P81P	SIGLEC16_uc002prf.3_Intron					Homo sapiens cDNA FLJ50062 complete cds, highly similar to Sialic acid-binding Ig-like lectin 11 precursor.											endometrium(2)|kidney(2)|lung(6)	10						CTCGGCACCCGCTGGGCTCCC	0.667000														26			15		0	0	1	0	0
VENTX	27287	broad.mit.edu	37	10	135053709	135053709	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:135053709G>A	uc010quy.1	+	2	687	c.676G>A	c.(676-678)Gcg>Acg	p.A226T		NM_014468	NP_055283	O95231	VENTX_HUMAN	Homo sapiens VENT homeobox (VENTX), mRNA.	226					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.A226A(1)		NS(1)|endometrium(1)|large_intestine(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(1)	14		all_cancers(35;4.15e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;7.8e-06)|Epithelial(32;9.31e-06)|all cancers(32;1.19e-05)		GCAGCCTCTGGCGTCCCACCC	0.692000														9			7		0	0	1	0	0
TEX2	55852	broad.mit.edu	37	17	62270986	62270986	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:62270986T>C	uc002jed.3	-	3	2260	c.2109A>G	c.(2107-2109)agA>agG	p.R703R	TEX2_uc002jec.3_Silent_p.R703R|TEX2_uc002jee.3_Silent_p.R703R	NM_018469	NP_060939	Q8IWB9	TEX2_HUMAN	Homo sapiens testis expressed 2 (TEX2), mRNA.	703					signal transduction|sphingolipid metabolic process	integral to membrane				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		CCAGAATAAATCTCCTAAACC	0.453000														173			9		0	0	1	0	0
TOMM70A	9868	broad.mit.edu	37	3	100091474	100091474	+	Silent	SNP	G	A	A	rs149760059		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:100091474G>A	uc003dtw.3	-	8	1877	c.1428C>T	c.(1426-1428)gcC>gcT	p.A476A		NM_014820	NP_055635	O94826	TOM70_HUMAN	Homo sapiens translocase of outer mitochondrial membrane 70 homolog A (S. cerevisiae) (TOMM70A), nuclear gene encoding mitochondrial protein, mRNA.	476					protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane translocase complex	protein binding|protein transmembrane transporter activity			endometrium(11)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	32						CATAGCCTTCGGCACACCTTG	0.378000														120			9		0	0	1	0	0
ZNRF3	84133	broad.mit.edu	37	22	29446491	29446491	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:29446491C>T	uc003aeg.3	+	7	2322	c.2322C>T	c.(2320-2322)taC>taT	p.Y774Y	ZNRF3_uc021wnq.1_Silent_p.Y674Y	NM_001206998	NP_001193927	Q9ULT6	ZNRF3_HUMAN	Homo sapiens zinc and ring finger 3 (ZNRF3), transcript variant 1, mRNA.	774						integral to membrane	zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						GGGTGAAATACGAGGGTCTGC	0.652000														13			9		0	0	1	0	0
PLEKHA7	144100	broad.mit.edu	37	11	16838749	16838749	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:16838749G>A	uc010rcu.1	-	10	1479	c.1464C>T	c.(1462-1464)ccC>ccT	p.P488P	PLEKHA7_uc001mmo.3_Silent_p.P488P|PLEKHA7_uc010rcv.2_Silent_p.P62P|PLEKHA7_uc001mmn.3_Silent_p.P196P	NM_175058	NP_778228	Q6IQ23	PKHA7_HUMAN	Homo sapiens pleckstrin homology domain containing, family A member 7 (PLEKHA7), mRNA.	488					epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						GCAGGTTTCGGGGAGGTGGCG	0.637000														65			34		0	0	1	0	0
C17orf70	80233	broad.mit.edu	37	17	79517694	79517694	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:79517694G>T	uc002kaq.3	-	2	899	c.826C>A	c.(826-828)Cat>Aat	p.H276N	C17orf70_uc002kao.1_5'Flank|C17orf70_uc010wuq.1_Non-coding_Transcript|C17orf70_uc002kap.3_Missense_Mutation_p.H125N	NM_025161	NP_079437	Q0VG06	FP100_HUMAN	Homo sapiens chromosome 17 open reading frame 70 (C17orf70), transcript variant 2, mRNA.	276					DNA repair	cytoplasm|intermediate filament cytoskeleton|nucleoplasm	DNA binding	p.G276G(1)		breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	19	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			TCCAGGTGATGGAGGATCTTG	0.577000														55			7		0.00198382	0.00208369	1	1	0
OGT	8473	broad.mit.edu	37	X	70757810	70757810	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:70757810G>A	uc004eaa.2	+	2	588	c.350G>A	c.(349-351)cGt>cAt	p.R117H	BCYRN1_uc011mpt.1_Intron|OGT_uc004eab.2_Missense_Mutation_p.R107H|OGT_uc011mpw.2_Missense_Mutation_p.R117H	NM_181672	NP_858058	O15294	OGT1_HUMAN	Homo sapiens O-linked N-acetylglucosamine (GlcNAc) transferase (UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase) (OGT), transcript variant 1, mRNA.	117					cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	MLL5-L complex|cytosol	enzyme activator activity|protein N-acetylglucosaminyltransferase activity|protein binding	p.R117H(1)|p.R107H(1)		breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					CATGCATTGCGTCTCAAACCT	0.493000														46			6		0	0	1	0	0
TBC1D15	64786	broad.mit.edu	37	12	72274292	72274292	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:72274292G>A	uc001swu.3	+	3	323	c.248G>A	c.(247-249)aGa>aAa	p.R83K	TBC1D15_uc009zrv.2_5'UTR|TBC1D15_uc001sww.3_5'UTR|TBC1D15_uc010stt.2_Missense_Mutation_p.R91K|TBC1D15_uc001swv.3_Missense_Mutation_p.R83K	NM_022771	NP_073608	Q8TC07	TBC15_HUMAN	Homo sapiens TBC1 domain family, member 15 (TBC1D15), transcript variant 1, mRNA.	83							Rab GTPase activator activity|protein binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CCAAAAGAAAGAGGTCATCGA	0.338000														16			15		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106733396	106733396	+	RNA	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:106733396A>G	uc021ser.1	-	876		c.21150T>C								Parts of antibodies, mostly variable regions.																		CTGAGGCCCCAGGCTTCTTCA	0.577000														126			13		0	0	1	0	0
KCNT2	343450	broad.mit.edu	37	1	196288613	196288613	+	Splice_Site	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:196288613C>T	uc001gtd.1	-	20	2408	c.2348_splice	c.e20+1	p.N783_splice	KCNT2_uc009wyt.1_Intron|KCNT2_uc001gte.1_Intron|KCNT2_uc001gtf.1_Intron|KCNT2_uc001gtg.1_Intron|KCNT2_uc009wyu.3_Intron|KCNT2_uc001gth.1_Intron	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	Homo sapiens potassium channel, subfamily T, member 2 (KCNT2), mRNA.	783						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						TTGTCACCTACTTGTCAATAG	0.418000														39			11		0	0	1	0	0
C8orf34	116328	broad.mit.edu	37	8	69633665	69633665	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:69633665C>T	uc010lyz.3	+	9	1688	c.1397C>T	c.(1396-1398)aCa>aTa	p.T466I	C8orf34_uc003xyb.3_Missense_Mutation_p.T355I	NM_052958	NP_443190	Q49A92	CH034_HUMAN	Homo sapiens chromosome 8 open reading frame 34 (C8orf34), transcript variant 1, mRNA.	380					signal transduction		cAMP-dependent protein kinase regulator activity			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			TCTAAACTAACAGGACCTGTA	0.274000														31			9		0	0	1	0	0
RIPK4	54101	broad.mit.edu	37	21	43161513	43161513	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:43161513G>A	uc002yzn.1	-	7	1888	c.1840C>T	c.(1840-1842)Cgc>Tgc	p.R614C		NM_020639	NP_065690	Q96T11	Q96T11_HUMAN	Homo sapiens receptor-interacting serine-threonine kinase 4 (RIPK4), mRNA.	614						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TAGTGCCCGCGCTGTGCGGCC	0.687000														58			35		0	0	1	0	0
BPTF	2186	broad.mit.edu	37	17	65978371	65978371	+	Silent	SNP	T	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:65978371T>A	uc002jgf.3	+	27	8791	c.8730T>A	c.(8728-8730)tcT>tcA	p.S2910S	BPTF_uc002jge.3_Silent_p.S2893S|BPTF_uc021uca.1_3'UTR|BPTF_uc002jgg.3_Silent_p.S625S	NM_182641	NP_872579	Q12830	BPTF_HUMAN	Homo sapiens bromodomain PHD finger transcription factor (BPTF), transcript variant 1, mRNA.	3036					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex|cytoplasm	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			TCTGTAGGTCTCATAACAACA	0.368000														20			21		0	0	1	0	0
ZFHX3	463	broad.mit.edu	37	16	72992225	72992225	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:72992225T>C	uc002fck.3	-	1	2493	c.1820A>G	c.(1819-1821)gAa>gGa	p.E607G	ZFHX3_uc002fcl.3_Intron	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	607					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CTCTGTGCTTTCATTTGGTTC	0.617000														43			4		0	0	1	0	0
SOBP	55084	broad.mit.edu	37	6	107827511	107827511	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:107827511G>T	uc003prx.3	+	2	805	c.301G>T	c.(301-303)Ggc>Tgc	p.G101C	SOBP_uc003prw.1_Missense_Mutation_p.G101C	NM_018013	NP_060483	A7XYQ1	SOBP_HUMAN	Homo sapiens sine oculis binding protein homolog (Drosophila) (SOBP), mRNA.	101							metal ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		TATAAGCACAGGCTATTCAGG	0.408000														164			17		3.52763e-06	3.96648e-06	1	1	0
LARS	51520	broad.mit.edu	37	5	145523015	145523015	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:145523015C>A	uc003lnx.1	-	18	2075	c.1837G>T	c.(1837-1839)Ggt>Tgt	p.G613C	LARS_uc011dbq.1_Missense_Mutation_p.G567C|LARS_uc011dbr.1_Missense_Mutation_p.G559C|LARS_uc011dbs.1_Missense_Mutation_p.G586C	NM_020117	NP_064502	Q9P2J5	SYLC_HUMAN	Homo sapiens leucyl-tRNA synthetase (LARS), mRNA.	613					leucyl-tRNA aminoacylation	cytosol	ATP binding|leucine-tRNA ligase activity|protein binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	TGCAAGTTACCCCCCTGCAAT	0.453000														166			11		1.08611e-07	1.25606e-07	1	1	0
ZMYM4	9202	broad.mit.edu	37	1	35857931	35857931	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:35857931G>T	uc001byt.3	+	15	2786	c.2706G>T	c.(2704-2706)gtG>gtT	p.V902V	ZMYM4_uc009vuu.3_Silent_p.V870V|ZMYM4_uc001byu.3_Silent_p.V578V|ZMYM4_uc009vuv.3_Silent_p.V641V	NM_005095	NP_005086	Q5VZL5	ZMYM4_HUMAN	Homo sapiens zinc finger, MYM-type 4 (ZMYM4), mRNA.	902					multicellular organismal development		DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				AGCCTACAGTGAATTCTAACA	0.453000														37			4		0.00909568	0.00940365	1	1	0
NLRP11	204801	broad.mit.edu	37	19	56300722	56300722	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:56300722C>T	uc010ygf.2	-	9	3268	c.2557G>A	c.(2557-2559)Gcc>Acc	p.A853T	NLRP11_uc002qlz.3_Missense_Mutation_p.A700T|NLRP11_uc002qmb.3_Missense_Mutation_p.A754T|NLRP11_uc002qmc.3_Non-coding_Transcript	NM_145007	NP_659444	P59045	NAL11_HUMAN	Homo sapiens NLR family, pyrin domain containing 11 (NLRP11), mRNA.	853							ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		ATAACTATGGCAATATATTGA	0.413000														84			36		0	0	1	0	0
KRTAP10-8	386681	broad.mit.edu	37	21	46032049	46032049	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:46032049T>C	uc002zfo.1	+	0	54	c.32T>C	c.(31-33)gTg>gCg	p.V11A	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198695	NP_941968	P60410	KR108_HUMAN	Homo sapiens keratin associated protein 10-8 (KRTAP10-8), mRNA.	11						keratin filament				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	17						AGGACGTATGTGATTGCTGCA	0.622000														89			8		0	0	1	0	0
TEP1	7011	broad.mit.edu	37	14	20850092	20850092	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:20850092G>A	uc001vxe.3	-	29	4444	c.4404C>T	c.(4402-4404)tgC>tgT	p.C1468C	TEP1_uc010ahk.3_Silent_p.C811C|TEP1_uc010tlf.1_Non-coding_Transcript|TEP1_uc010tlg.1_Silent_p.C1360C|TEP1_uc010tlh.1_5'UTR	NM_007110	NP_009041	Q99973	TEP1_HUMAN	Homo sapiens telomerase-associated protein 1 (TEP1), mRNA.	1468	NACHT.		C -> Y (in dbSNP:rs1713456).		telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	p.C1468C(2)		NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		TCTGGACGAGGCAGGCAAACG	0.607000														43			39		0	0	1	0	0
TCF4	6925	broad.mit.edu	37	18	52895571	52895571	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:52895571G>T	uc002lga.3	-	19	2267	c.2207C>A	c.(2206-2208)gCt>gAt	p.A736D	TCF4_uc021ukg.1_Missense_Mutation_p.A470D|TCF4_uc021ukh.1_Missense_Mutation_p.A470D|TCF4_uc002lfw.4_Missense_Mutation_p.A474D|TCF4_uc010xdu.1_Missense_Mutation_p.A500D|TCF4_uc010xdv.1_Missense_Mutation_p.A500D|TCF4_uc021uki.1_Missense_Mutation_p.A559D|TCF4_uc002lfx.2_Missense_Mutation_p.A563D|TCF4_uc010xdw.1_Missense_Mutation_p.A500D|TCF4_uc002lfy.2_Missense_Mutation_p.A588D|TCF4_uc010xdx.1_Missense_Mutation_p.A606D|TCF4_uc021ukj.1_Missense_Mutation_p.A570D|TCF4_uc021ukk.1_Missense_Mutation_p.A574D|TCF4_uc021ukl.1_Missense_Mutation_p.A627D|TCF4_uc002lfz.2_Missense_Mutation_p.A630D|TCF4_uc010dph.1_Missense_Mutation_p.A634D|TCF4_uc010dpi.3_Missense_Mutation_p.A640D|TCF4_uc010xdy.1_Missense_Mutation_p.A610D	NM_001243226	NP_001230155	P15884	ITF2_HUMAN	Homo sapiens transcription factor 4 (TCF4), transcript variant 3, mRNA.	630					positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding|protein C-terminus binding|protein heterodimerization activity|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		CAGACACGCAGCTTTCGGATT	0.532000														43			28		7.01153e-11	8.50817e-11	1	1	0
IFIT2	3433	broad.mit.edu	37	10	91066262	91066262	+	Nonsense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:91066262C>A	uc009xts.3	+	1	724	c.549C>A	c.(547-549)taC>taA	p.Y183*	LIPA_uc001kgb.4_Intron|LIPA_uc001kgc.4_Intron|BC040833_uc001kgd.3_Intron	NM_001547	NP_001538	P09913	IFIT2_HUMAN	Homo sapiens interferon-induced protein with tetratricopeptide repeats 2 (IFIT2), mRNA.	183					negative regulation of protein binding|response to virus|type I interferon-mediated signaling pathway		protein binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	12		Colorectal(252;0.0161)				TAGCAAGCTACCGTCTGGACA	0.507000														31			13		0.00010058	0.000109296	1	1	0
OTOL1	131149	broad.mit.edu	37	3	161221326	161221326	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:161221326G>A	uc011bpb.2	+	3	1030	c.1030G>A	c.(1030-1032)Gct>Act	p.A344T		NM_001080440	NP_001073909	A6NHN0	OTOL1_HUMAN	Homo sapiens otolin 1 (OTOL1), mRNA.	344	C1q.					collagen				central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						GCCCCGGTCGGCTTTCAGCGC	0.522000														32			5		0	0	1	0	0
PLCD1	5333	broad.mit.edu	37	3	38049632	38049632	+	Silent	SNP	C	T	T	rs148090621		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:38049632C>T	uc003chm.3	-	13	2475	c.2121G>A	c.(2119-2121)acG>acA	p.T707T	PLCD1_uc003chn.3_Silent_p.T686T	NM_001130964	NP_001124436	P51178	PLCD1_HUMAN	Homo sapiens phospholipase C, delta 1 (PLCD1), transcript variant 1, mRNA.	686	C2.				intracellular signal transduction|lipid catabolic process|phospholipid metabolic process	cytoplasm	GTPase activating protein binding|calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	p.D706Y(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		ACGCAAACTCCGTGTCCCACC	0.542000														60			38		0	0	1	0	0
GABRD	2563	broad.mit.edu	37	1	1957156	1957156	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:1957156G>A	uc001aip.2	+	3	544	c.449G>A	c.(448-450)gGc>gAc	p.G150D		NM_000815	NP_000806	O14764	GBRD_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, delta (GABRD), mRNA.	150						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		CAGCCCGACGGCGTGATCCTG	0.677000														22			21		0	0	1	0	0
IGSF22	283284	broad.mit.edu	37	11	18737093	18737093	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:18737093C>T	uc009yht.2	-	10	1607	c.1417G>A	c.(1417-1419)Gca>Aca	p.A473T	IGSF22_uc001mpa.2_Non-coding_Transcript	NM_173588	NP_775859	Q8N9C0	IGS22_HUMAN	Homo sapiens immunoglobulin superfamily, member 22 (IGSF22), mRNA.	473	Ig-like 3.									NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						ATCAGCTCTGCTCGCTTGCCC	0.532000														70			6		0	0	1	0	0
PUS10	150962	broad.mit.edu	37	2	61198657	61198657	+	Splice_Site	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:61198657C>T	uc010fci.3	-	5	563	c.503_splice	c.e5+1	p.G168_splice	PUS10_uc002sao.3_Splice_Site_p.G168_splice|PUS10_uc010ypk.2_Splice_Site	NM_144709	NP_653310	Q3MIT2	PUS10_HUMAN	Homo sapiens pseudouridylate synthase 10 (PUS10), mRNA.	168					pseudouridine synthesis|tRNA processing		RNA binding|pseudouridine synthase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)	22			LUSC - Lung squamous cell carcinoma(5;1.56e-06)|Lung(5;2.48e-05)|Epithelial(17;0.113)			AAATTACTTACCCCATTTCCT	0.368000														121			55		0	0	1	0	0
ROR2	4920	broad.mit.edu	37	9	94486137	94486137	+	Missense_Mutation	SNP	T	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:94486137T>A	uc004arj.2	-	8	2838	c.2639A>T	c.(2638-2640)aAc>aTc	p.N880I	ROR2_uc004ari.1_Intron	NM_004560	NP_004551	Q01974	ROR2_HUMAN	Homo sapiens receptor tyrosine kinase-like orphan receptor 2 (ROR2), mRNA.	880	Ser/Thr-rich.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|Wnt-protein binding|transmembrane receptor protein tyrosine kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CATGGATGTGTTGGAGGGGGC	0.652000														78			13		0	0	1	0	0
POTEF	728378	broad.mit.edu	37	2	130832316	130832316	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:130832316C>T	uc010fmh.2	-	16	3129	c.2729G>A	c.(2728-2730)cGt>cAt	p.R910H		NM_001099771	NP_001093241	A5A3E0	POTEF_HUMAN	Homo sapiens POTE ankyrin domain family, member F (POTEF), mRNA.	910	Actin-like.					cell cortex	ATP binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						TTTGATGTCACGCACGATTTC	0.592000														28			20		0	0	1	0	0
ASPM	259266	broad.mit.edu	37	1	197059134	197059134	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:197059134G>A	uc001gtu.3	-	24	10167	c.9910C>T	c.(9910-9912)Cga>Tga	p.R3304*	ASPM_uc001gtv.3_Nonsense_Mutation_p.R1719*|ASPM_uc001gtw.4_Nonsense_Mutation_p.R1152*	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	Homo sapiens asp (abnormal spindle) homolog, microcephaly associated (Drosophila) (ASPM), transcript variant 1, mRNA.	3304					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TTACAACTTCGGATCAAAACA	0.343000														55			30		0	0	1	0	0
ABCA4	24	broad.mit.edu	37	1	94496601	94496601	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:94496601C>T	uc001dqh.3	-	27	4308	c.4204G>A	c.(4204-4206)Gct>Act	p.A1402T		NM_000350	NP_000341	P78363	ABCA4_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4), mRNA.	1402					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		AGGGTCAAAGCGGGGTATTCG	0.532000														26			14		0	0	1	0	0
CWH43	80157	broad.mit.edu	37	4	49005809	49005809	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:49005809G>A	uc003gyv.3	+	6	1042	c.860G>A	c.(859-861)gGc>gAc	p.G287D	CWH43_uc011bzl.2_Missense_Mutation_p.G260D	NM_025087	NP_079363	Q9H720	PG2IP_HUMAN	Homo sapiens cell wall biogenesis 43 C-terminal homolog (S. cerevisiae) (CWH43), mRNA.	287					GPI anchor biosynthetic process	integral to membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						GCTGTGTCTGGCTGTGTCTTC	0.512000														56			36		0	0	1	0	0
ABCC9	10060	broad.mit.edu	37	12	22005070	22005070	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:22005070C>T	uc001rfh.3	-	21	2750	c.2730G>A	c.(2728-2730)tgG>tgA	p.W910*	ABCC9_uc001rfi.1_Nonsense_Mutation_p.W910*	NM_020297	NP_064693	O60706	ABCC9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	910	ABC transporter 1.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TAAGTGTTTTCCAGTGTTCAT	0.373000														33			26		0	0	1	0	0
OR7A10	390892	broad.mit.edu	37	19	14952327	14952327	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:14952327G>A	uc002mzx.1	-	0	363	c.363C>T	c.(361-363)gaC>gaT	p.D121D		NM_001005190	NP_001005190	O76100	OR7AA_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily A, member 10 (OR7A10), mRNA.	121					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|stomach(1)	19	Ovarian(108;0.203)					CCACAAACCGGTCATAGGCCA	0.478000														30			20		0	0	1	0	0
MAGEB6	158809	broad.mit.edu	37	X	26213143	26213143	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:26213143G>A	uc022buc.1	+	0	1180	c.1180G>A	c.(1180-1182)Gct>Act	p.A394T	MAGEB6_uc004dbr.3_Missense_Mutation_p.A394T	NM_173523	NP_775794	Q8N7X4	MAGB6_HUMAN	Homo sapiens melanoma antigen family B, 6 (MAGEB6), mRNA.	394	MAGE.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						GTATGAAGACGCTTTGATAGA	0.507000														92			56		0	0	1	0	0
CLPSL1	340204	broad.mit.edu	37	6	35754807	35754807	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:35754807C>T	uc003old.4	+	1	189	c.132C>T	c.(130-132)gaC>gaT	p.D44D		NM_001010886	NP_001010886	A2RUU4	CF127_HUMAN	Homo sapiens chromosome 6 open reading frame 127 (C6orf127), mRNA.	44					digestion|lipid catabolic process	extracellular region	enzyme activator activity										GGAACCAGGACTGCGAGACTG	0.677000														2			3		0	0	1	0	0
ASCC3	10973	broad.mit.edu	37	6	101296419	101296419	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:101296419G>A	uc003pqk.3	-	3	735	c.406C>T	c.(406-408)Cga>Tga	p.R136*	ASCC3_uc011eai.1_Nonsense_Mutation_p.R38*|ASCC3_uc003pql.3_Nonsense_Mutation_p.R136*|ASCC3_uc010kcv.3_Nonsense_Mutation_p.R136*	NM_006828	NP_006819	Q8N3C0	HELC1_HUMAN	Homo sapiens activating signal cointegrator 1 complex subunit 3 (ASCC3), transcript variant 1, mRNA.	136					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		GAAATAATTCGATTAGTAGCA	0.383000														65			5		0	0	1	0	0
PDCL2	132954	broad.mit.edu	37	4	56428578	56428578	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:56428578C>T	uc003hbb.3	-	4	667	c.564G>A	c.(562-564)aaG>aaA	p.K188K		NM_152401	NP_689614	Q8N4E4	PDCL2_HUMAN	Homo sapiens phosducin-like 2 (PDCL2), mRNA.	188										endometrium(1)|kidney(1)|lung(4)|ovary(1)	7	Lung NSC(11;0.00256)|Glioma(25;0.08)|all_epithelial(27;0.0863)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.69e-07)|Lung(4;1.03e-06)|Epithelial(7;0.00669)			TACCTTCCAGCTTGAGATTTA	0.323000														27			14		0	0	1	0	0
CNKSR1	10256	broad.mit.edu	37	1	26515348	26515348	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:26515348C>A	uc001bln.4	+	19	1855	c.1797C>A	c.(1795-1797)acC>acA	p.T599T	CNKSR1_uc001blm.4_Silent_p.T592T|CNKSR1_uc009vsd.3_Silent_p.T334T|CNKSR1_uc009vse.3_Silent_p.T334T|CATSPER4_uc010oey.1_5'Flank|CATSPER4_uc010oez.2_5'Flank|CATSPER4_uc009vsf.3_5'Flank	NM_006314	NP_006305	Q969H4	CNKR1_HUMAN	Homo sapiens connector enhancer of kinase suppressor of Ras 1 (CNKSR1), transcript variant 1, mRNA.	599					Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		AGCCCCTGACCCAGGAACAGT	0.627000														70			5		0.00116845	0.00123466	1	1	0
TRHR	7201	broad.mit.edu	37	8	110099767	110099767	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:110099767T>G	uc003ymz.4	+	0	115	c.26T>G	c.(25-27)cTg>cGg	p.L9R		NM_003301	NP_003292	P34981	TRFR_HUMAN	Homo sapiens thyrotropin-releasing hormone receptor (TRHR), mRNA.	9						integral to plasma membrane	thyrotropin-releasing hormone receptor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			GTCAGTGAACTGAACCAAACA	0.458000														41			5		0	0	1	0	0
CD22	933	broad.mit.edu	37	19	35827141	35827141	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:35827141G>A	uc010edt.3	+	3	699	c.615G>A	c.(613-615)aaG>aaA	p.K205K	CD22_uc010edu.3_Silent_p.K205K|CD22_uc010edv.3_Silent_p.K205K|CD22_uc002nzb.4_Silent_p.K205K|CD22_uc010xst.2_Silent_p.K33K|CD22_uc010edx.3_5'Flank	NM_001771	NP_001762	P20273	CD22_HUMAN	Homo sapiens CD22 molecule (CD22), transcript variant 1, mRNA.	205	Ig-like C2-type 1.				cell adhesion		protein binding|sugar binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		OspA lipoprotein(DB00045)	GCGAGCTCAAGTTCTCCCCAC	0.557000														43			5		0	0	1	0	0
OR5H14	403273	broad.mit.edu	37	3	97868254	97868254	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:97868254C>A	uc003dsg.1	+	0	25	c.25C>A	c.(25-27)Ctg>Atg	p.L9M		NM_001005514	NP_001005514	A6NHG9	O5H14_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 14 (OR5H14), mRNA.	9					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						TGCAACATTGCTGACAGAGTT	0.383000														78			53		5.96624e-29	7.85884e-29	1	1	0
MYLK	4638	broad.mit.edu	37	3	123452870	123452870	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:123452870A>G	uc003ego.3	-	9	1255	c.973T>C	c.(973-975)Tgc>Cgc	p.C325R	MYLK_uc011bjw.2_Missense_Mutation_p.C325R|MYLK_uc003egp.3_Missense_Mutation_p.C325R|MYLK_uc003egq.3_Missense_Mutation_p.C325R|MYLK_uc003egr.3_Missense_Mutation_p.C325R|MYLK_uc003egs.3_Missense_Mutation_p.C149R	NM_053025	NP_444253	Q15746	MYLK_HUMAN	Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA.	325					aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	ATP binding|actin binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		GAGTCCTTGCATGACTCCAGC	0.632000														59			4		0	0	1	0	0
ZBTB45	84878	broad.mit.edu	37	19	59028463	59028463	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:59028463G>T	uc002qtd.3	-	1	870	c.578C>A	c.(577-579)cCt>cAt	p.P193H	ZBTB45_uc002qtf.3_Missense_Mutation_p.P193H	NM_032792	NP_116181	Q96K62	ZBT45_HUMAN	Homo sapiens zinc finger and BTB domain containing 45 (ZBTB45), mRNA.	193	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|lung(5)|urinary_tract(1)	11		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18)		GTCAGCATCAGGCCCCTCAGC	0.682000											OREG0025700	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		93			50		1.19451e-25	1.5642e-25	1	1	0
ZNF70	7621	broad.mit.edu	37	22	24086151	24086151	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:24086151T>C	uc002zxs.3	-	1	1638	c.1177A>G	c.(1177-1179)Acc>Gcc	p.T393A	ZNF70_uc021wmu.1_Missense_Mutation_p.T393A	NM_021916	NP_068735	Q9UC06	ZNF70_HUMAN	Homo sapiens zinc finger protein 70 (ZNF70), mRNA.	393						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.T393T(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	21						CACTCGCAGGTGTAGGGCTTC	0.577000														86			7		0	0	1	0	0
ROBO2	6092	broad.mit.edu	37	3	77651375	77651375	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:77651375G>T	uc011bgk.2	+	20	3524	c.2881G>T	c.(2881-2883)Gtt>Ttt	p.V961F	ROBO2_uc021xat.1_Missense_Mutation_p.V973F|ROBO2_uc003dpy.4_Missense_Mutation_p.V957F|ROBO2_uc003dpz.3_Missense_Mutation_p.V961F|ROBO2_uc011bgj.2_Non-coding_Transcript|ROBO2_uc003dqa.3_Missense_Mutation_p.V84F	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 2 (Drosophila) (ROBO2), transcript variant 2, mRNA.	957					apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		GCTGCCACCAGTTCCAGGCCA	0.438000														37			4		0.00024832	0.000267289	1	1	0
QPCT	25797	broad.mit.edu	37	2	37594504	37594504	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:37594504A>G	uc002rqg.3	+	3	798	c.676A>G	c.(676-678)Acc>Gcc	p.T226A		NM_012413	NP_036545	Q16769	QPCT_HUMAN	Homo sapiens glutaminyl-peptide cyclotransferase (QPCT), mRNA.	226					peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase|proteolysis	extracellular region	acyltransferase activity|glutaminyl-peptide cyclotransferase activity|peptidase activity|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|stomach(2)	17		Ovarian(717;0.051)|all_hematologic(82;0.21)				GATGGCATCGACCCCGCACCC	0.532000														54			13		0	0	1	0	0
LRIF1	55791	broad.mit.edu	37	1	111494608	111494608	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:111494608A>C	uc001eaa.3	-	1	1154	c.898T>G	c.(898-900)Ttt>Gtt	p.F300V	LRIF1_uc001dzz.3_Intron|LRIF1_uc001eab.3_Intron	NM_018372	NP_060842	Q5T3J3	LRIF1_HUMAN	Homo sapiens ligand dependent nuclear receptor interacting factor 1 (LRIF1), transcript variant 1, mRNA.	300					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	protein binding			endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2)	28						GATGGCGTAAAAGGCTGTAGA	0.343000														52			53		0	0	1	0	0
PKD2L1	9033	broad.mit.edu	37	10	102056783	102056783	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:102056783C>T	uc001kqx.1	-	5	1522	c.1139G>A	c.(1138-1140)cGc>cAc	p.R380H	PKD2L1_uc009xwm.1_Missense_Mutation_p.R333H	NM_016112	NP_057196	Q9P0L9	PK2L1_HUMAN	Homo sapiens polycystic kidney disease 2-like 1 (PKD2L1), transcript variant 1, mRNA.	380					signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding			NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		GCTGAGGTAGCGAAGCCGGTG	0.512000														24			16		0	0	1	0	0
PNLIPRP3	119548	broad.mit.edu	37	10	118225660	118225660	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:118225660T>C	uc001lcl.4	+	7	1008	c.907T>C	c.(907-909)Tcc>Ccc	p.S303P		NM_001011709	NP_001011709	Q17RR3	LIPR3_HUMAN	Homo sapiens pancreatic lipase-related protein 3 (PNLIPRP3), mRNA.	303					lipid catabolic process	extracellular region	triglyceride lipase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50				all cancers(201;0.0131)		TCCTTGTAGATCCTACACATC	0.318000														28			22		0	0	1	0	0
ZDHHC6	64429	broad.mit.edu	37	10	114192146	114192146	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:114192146G>A	uc001kzv.3	-	8	1503	c.1079C>T	c.(1078-1080)aCa>aTa	p.T360I	ZDHHC6_uc001kzw.3_Missense_Mutation_p.T356I	NM_022494	NP_071939	Q9H6R6	ZDHC6_HUMAN	Homo sapiens zinc finger, DHHC-type containing 6 (ZDHHC6), mRNA.	360						integral to membrane	acyltransferase activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Colorectal(252;0.198)		Epithelial(162;0.0291)|all cancers(201;0.117)		TAAACCTCTTGTGGCTAAAAT	0.368000														121			7		0	0	1	0	0
MAGED1	9500	broad.mit.edu	37	X	51641416	51641416	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:51641416C>T	uc004dpn.3	+	9	2132	c.1942C>T	c.(1942-1944)Cgt>Tgt	p.R648C	MAGED1_uc004dpm.3_Missense_Mutation_p.R592C|MAGED1_uc004dpo.3_Missense_Mutation_p.R592C	NM_001005333	NP_001005333	Q9Y5V3	MAGD1_HUMAN	Homo sapiens melanoma antigen family D, 1 (MAGED1), transcript variant 1, mRNA.	592	MAGE.				apoptosis|induction of apoptosis by extracellular signals|negative regulation of epithelial cell proliferation|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|plasma membrane|protein complex	protein binding			breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32	Ovarian(276;0.236)					GATGGGACTGCGTCCTGGGTA	0.552000										Multiple Myeloma(10;0.10)				35			18		0	0	1	0	0
GPBAR1	151306	broad.mit.edu	37	2	219127520	219127520	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:219127520G>A	uc021vwu.1	+	0	73	c.73G>A	c.(73-75)Gca>Aca	p.A25T	GPBAR1_uc010zjx.1_Missense_Mutation_p.A25T|GPBAR1_uc010zjw.1_Missense_Mutation_p.A25T|GPBAR1_uc010zjy.1_Missense_Mutation_p.A25T	NM_170699	NP_733800	Q8TDU6	GPBAR_HUMAN	Homo sapiens G protein-coupled bile acid receptor 1 (GPBAR1), transcript variant 3, mRNA.	25						integral to membrane|plasma membrane	G-protein coupled receptor activity			cervix(1)|kidney(1)|large_intestine(1)|ovary(1)	4		Renal(207;0.0474)		Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCTGGCCCTGGCAAGCCTCAT	0.672000														7			8		0	0	1	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121652220	121652220	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:121652220G>A	uc003vjy.3	+	11	3515	c.3120G>A	c.(3118-3120)gcG>gcA	p.A1040A	PTPRZ1_uc011knt.2_Intron|PTPRZ1_uc003vjz.3_Intron	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor-type, Z polypeptide 1 (PTPRZ1), transcript variant 1, mRNA.	1040					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						ATAATAAGGCGCTTTCTAAAA	0.383000														72			25		0	0	1	0	0
ACCS	84680	broad.mit.edu	37	11	44104852	44104852	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:44104852C>T	uc009yks.1	+	12	1389	c.1245C>T	c.(1243-1245)gaC>gaT	p.D415D	EXT2_uc010rfo.2_Intron|ACCS_uc001mxx.2_Silent_p.D415D	NM_001127219	NP_115981	Q96QU6	1A1L1_HUMAN	Homo sapiens 1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional) (ACCS), transcript variant 2, mRNA.	415							1-aminocyclopropane-1-carboxylate synthase activity|protein homodimerization activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			breast(4)|endometrium(3)|large_intestine(11)|lung(15)|ovary(1)|skin(1)	35						TCTGGGTTGACTTGAGAAAGG	0.577000														45			7		0	0	1	0	0
PIBF1	10464	broad.mit.edu	37	13	73401954	73401954	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:73401954C>A	uc001vjc.3	+	7	1304	c.999C>A	c.(997-999)cgC>cgA	p.R333R	PIBF1_uc010aeo.1_Non-coding_Transcript|PIBF1_uc001vjb.3_Silent_p.R333R|PIBF1_uc010aep.3_Intron	NM_006346	NP_006337	Q8WXW3	PIBF1_HUMAN	Homo sapiens progesterone immunomodulatory binding factor 1 (PIBF1), mRNA.	333				R -> C (in Ref. 3; CAA70844).		centrosome				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)		GBM - Glioblastoma multiforme(99;0.000664)		TTAGTGTTCGCTGTGCTCATG	0.393000														63			6		0.0293803	0.0299714	1	1	0
ZNF81	347344	broad.mit.edu	37	X	47774563	47774563	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:47774563G>A	uc022bvq.1	+	4	767	c.518G>A	c.(517-519)gGa>gAa	p.G173E	ZNF81_uc010nhy.2_Missense_Mutation_p.G173E	NM_007137	NP_009068	P51508	ZNF81_HUMAN	Homo sapiens zinc finger protein 81 (ZNF81), mRNA.	173						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|large_intestine(1)|lung(1)|skin(1)	4		all_lung(315;0.0973)				AAAGACTTTGGAAAATTTGTT	0.333000														33			16		0	0	1	0	0
HEPACAM	220296	broad.mit.edu	37	11	124793761	124793761	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:124793761C>T	uc001qbk.3	-	2	979	c.573G>A	c.(571-573)tcG>tcA	p.S191S	HEPACAM_uc009zbj.3_5'Flank|HEPACAM_uc001qbl.1_Silent_p.S191S	NM_152722	NP_689935	Q14CZ8	HECAM_HUMAN	Homo sapiens hepatic and glial cell adhesion molecule (HEPACAM), mRNA.	191	Ig-like C2-type.				cell adhesion|cell cycle arrest|regulation of growth	cytoplasm|integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.54e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		GGAGCATTCTCGAGTCATTGA	0.582000														20			9		0	0	1	0	0
PSMD3	5709	broad.mit.edu	37	17	38140580	38140580	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:38140580C>T	uc002htn.1	+	1	418	c.254C>T	c.(253-255)gCg>gTg	p.A85V	PSMD3_uc010wen.1_Intron|PSMD3_uc010weo.1_Intron	NM_002809	NP_002800	O43242	PSMD3_HUMAN	Homo sapiens proteasome (prosome, macropain) 26S subunit, non-ATPase, 3 (PSMD3), mRNA.	85					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|viral reproduction	proteasome complex	enzyme regulator activity|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Colorectal(19;0.000442)					CTAGAGAAAGCGGTTTCAGGC	0.537000														46			6		0	0	1	0	0
FGA	2243	broad.mit.edu	37	4	155505592	155505592	+	Missense_Mutation	SNP	G	A	A	rs150073296	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:155505592G>A	uc003iod.1	-	5	2343	c.2285C>T	c.(2284-2286)gCg>gTg	p.A762V		NM_000508	NP_000499	P02671	FIBA_HUMAN	Homo sapiens fibrinogen alpha chain (FGA), transcript variant alpha-E, mRNA.	762	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	AGCATCACCCGCAGTGCCTTC	0.542000														58			30		0	0	1	0	0
JUP	3728	broad.mit.edu	37	17	39921211	39921211	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:39921211C>T	uc002hxq.2	-	5	1295	c.1018G>A	c.(1018-1020)Gtg>Atg	p.V340M	JUP_uc010wfs.2_Intron|JUP_uc002hxr.2_Missense_Mutation_p.V340M|JUP_uc002hxs.2_Missense_Mutation_p.V340M	NM_021991	NP_068831	P14923	PLAK_HUMAN	Homo sapiens junction plakoglobin (JUP), transcript variant 2, mRNA.	340					adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of Wnt receptor signaling pathway involved in heart development|negative regulation of heart induction by canonical Wnt receptor signaling pathway|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	Axin-APC-beta-catenin-GSK3B complex|Z disc|actin cytoskeleton|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|zonula adherens	RPTP-like protein binding|alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		CTGGGACACACGGATAGCACC	0.597000														68			30		0	0	1	0	0
NUP155	9631	broad.mit.edu	37	5	37324205	37324205	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:37324205T>G	uc003jku.1	-	19	2214	c.2096A>C	c.(2095-2097)gAa>gCa	p.E699A	NUP155_uc003jkt.1_Missense_Mutation_p.E640A|NUP155_uc010iuz.1_Missense_Mutation_p.E699A	NM_153485	NP_004289	O75694	NU155_HUMAN	Homo sapiens nucleoporin 155kDa (NUP155), transcript variant 1, mRNA.	699					carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AACACTACTTTCAATCTGTAA	0.338000														49			6		0	0	1	0	0
HLA-DMB	3109	broad.mit.edu	37	6	32906533	32906533	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:32906533G>A	uc003ocl.2	-	1	528	c.265C>T	c.(265-267)Cgc>Tgc	p.R89C	HLA-DMB_uc003ock.2_5'Flank|HLA-DMB_uc010jud.2_5'Flank|HLA-DMB_uc010jue.2_5'Flank|HLA-DMB_uc010juf.2_5'Flank|HLA-DMB_uc003ocj.2_Missense_Mutation_p.R89C|HLA-DMB_uc011dql.2_Missense_Mutation_p.R89C	NM_002118	NP_002109	P28068	DMB_HUMAN	Homo sapiens major histocompatibility complex, class II, DM beta (HLA-DMB), mRNA.	89	Beta-1.				T cell costimulation|T cell receptor signaling pathway|antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway	MHC class II protein complex|integral to membrane|late endosome membrane|lysosomal membrane				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						TTGCGCAAGCGCTGCATCAGG	0.552000														53			40		0	0	1	0	0
RREB1	6239	broad.mit.edu	37	6	7231482	7231482	+	Silent	SNP	G	A	A	rs146203523		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:7231482G>A	uc003mxb.3	+	9	3642	c.3150G>A	c.(3148-3150)ccG>ccA	p.P1050P	RREB1_uc021yky.1_Silent_p.P1050P|RREB1_uc003mxc.3_Silent_p.P1050P|RREB1_uc010jnx.3_Silent_p.P1050P|RREB1_uc021ykz.1_Silent_p.P1050P|RREB1_uc021yla.1_Intron	NM_001003699	NP_001003699	Q92766	RREB1_HUMAN	Homo sapiens ras responsive element binding protein 1 (RREB1), transcript variant 1, mRNA.	1050	Pro-rich.				Ras protein signal transduction|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CCAAGCCCCCGCTGCTTTTGC	0.637000														30			18		0	0	1	0	0
HDX	139324	broad.mit.edu	37	X	83723698	83723698	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:83723698G>A	uc011mqv.2	-	3	1280	c.1033C>T	c.(1033-1035)Cca>Tca	p.P345S	HDX_uc004eel.2_Missense_Mutation_p.P287S|HDX_uc004eek.2_Missense_Mutation_p.P345S	NM_001177479	NP_001170949	Q7Z353	HDX_HUMAN	Homo sapiens highly divergent homeobox (HDX), transcript variant 1, mRNA.	345						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						TTTCTTCCTGGTCCGGGCAAG	0.428000														32			21		0	0	1	0	0
SLC29A2	3177	broad.mit.edu	37	11	66136899	66136899	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:66136899C>T	uc001oht.3	-	2	445	c.216G>A	c.(214-216)acG>acA	p.T72T	SLC29A2_uc009yrf.3_5'UTR|SLC29A2_uc001ohu.3_Silent_p.T72T|SLC29A2_uc001ohv.3_Silent_p.T72T|AX747485_uc001ohw.1_Non-coding_Transcript	NM_001532	NP_001523	Q14542	S29A2_HUMAN	Homo sapiens solute carrier family 29 (nucleoside transporters), member 2 (SLC29A2), mRNA.	72					cell proliferation|nucleobase, nucleoside and nucleotide metabolic process	basolateral plasma membrane|integral to plasma membrane|nuclear membrane|nucleolus	nucleoside transmembrane transporter activity			breast(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10						GGGACAGCAGCGTCACCCAAT	0.647000														133			69		0	0	1	0	0
TNFSF12-TNFSF13	407977	broad.mit.edu	37	17	7460102	7460102	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7460102C>T	uc002ghi.1	+	5	477	c.381C>T	c.(379-381)gaC>gaT	p.D127D	TNFSF12-TNFSF13_uc002ghh.3_Non-coding_Transcript|TNFSF12-TNFSF13_uc002ghg.3_Silent_p.D127D|TNFSF12-TNFSF13_uc002ghj.2_5'Flank|TNFSF12-TNFSF13_uc002ghk.2_5'Flank|TNFSF12-TNFSF13_uc021tpb.1_5'Flank|TNFSF12-TNFSF13_uc002ghl.2_5'Flank|TNFSF12-TNFSF13_uc010vua.1_5'Flank|TNFSF12-TNFSF13_uc010cmk.2_5'Flank	NM_172089	NP_742086	Q8IZK7	Q8IZK7_HUMAN	Homo sapiens TNFSF12-TNFSF13 readthrough (TNFSF12-TNFSF13), mRNA.	127					immune response	extracellular space|membrane	cytokine activity|tumor necrosis factor receptor binding			central_nervous_system(1)|large_intestine(2)	3		Prostate(122;0.157)				CAGGTGTGGACGGGACAGTGA	0.577000														15			17		0	0	1	0	0
VWA5A	4013	broad.mit.edu	37	11	123988576	123988576	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:123988576G>T	uc001pzu.3	+	3	449	c.240G>T	c.(238-240)aaG>aaT	p.K80N	VWA5A_uc001pzr.3_Missense_Mutation_p.K80N|VWA5A_uc001pzs.3_Missense_Mutation_p.K80N|VWA5A_uc010sae.2_Missense_Mutation_p.K96N|VWA5A_uc001pzt.3_Missense_Mutation_p.K80N	NM_001130142	NP_055437	O00534	VMA5A_HUMAN	Homo sapiens von Willebrand factor A domain containing 5A (VWA5A), transcript variant 3, mRNA.	80	VIT.									autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						TACAAGACAAGATGAAGGTAG	0.408000														60			7		5.18039e-06	5.80246e-06	1	1	0
FMNL3	91010	broad.mit.edu	37	12	50050932	50050932	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:50050932C>T	uc001ruv.1	-	6	881	c.647G>A	c.(646-648)cGc>cAc	p.R216H	FMNL3_uc001ruw.1_Missense_Mutation_p.R165H|FMNL3_uc001ruu.1_Missense_Mutation_p.R66H	NM_175736	NP_783863	Q8IVF7	FMNL3_HUMAN	Homo sapiens formin-like 3 (FMNL3), transcript variant 1, mRNA.	216	GBD/FH3.				actin cytoskeleton organization		Rho GTPase binding|actin binding	p.R216H(4)		breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						GCTCACTAGGCGGGAGTTCTT	0.577000														86			10		0	0	1	0	0
KIF17	57576	broad.mit.edu	37	1	21031210	21031210	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:21031210C>T	uc001bdr.4	-	4	971	c.853G>A	c.(853-855)Gtc>Atc	p.V285I	KIF17_uc001bds.4_Missense_Mutation_p.V285I	NM_020816	NP_065867	Q9P2E2	KIF17_HUMAN	Homo sapiens kinesin family member 17 (KIF17), transcript variant 1, mRNA.	285					microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding	p.V285I(2)		NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		CGGTAGGGGACGTGCTTACAG	0.652000														27			21		0	0	1	0	0
DHX8	1659	broad.mit.edu	37	17	41601117	41601117	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:41601117C>A	uc002idu.1	+	22	3637	c.3565C>A	c.(3565-3567)Cta>Ata	p.L1189I	DHX8_uc010wig.2_Intron	NM_004941	NP_004932	Q14562	DHX8_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 8 (DHX8), mRNA.	1189						catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|RNA binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		CCCAACTAAGCTAAGCAAACA	0.517000														57			6		0.00198382	0.00208369	1	1	0
HTRA4	203100	broad.mit.edu	37	8	38840057	38840057	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:38840057G>A	uc003xmj.3	+	6	1270	c.1155G>A	c.(1153-1155)atG>atA	p.M385I		NM_153692	NP_710159	P83105	HTRA4_HUMAN	Homo sapiens HtrA serine peptidase 4 (HTRA4), mRNA.	385	PDZ.				proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)	11		all_lung(54;0.0344)|Hepatocellular(245;0.0512)|Lung NSC(58;0.0955)	LUSC - Lung squamous cell carcinoma(45;1.5e-07)			GTCTGCAAATGCTGTCCCTCA	0.413000														62			47		0	0	1	0	0
UHRF1BP1	54887	broad.mit.edu	37	6	34825955	34825955	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:34825955C>A	uc003oju.4	+	13	2056	c.1822C>A	c.(1822-1824)Ctt>Att	p.L608I	UHRF1BP1_uc010jvm.2_Non-coding_Transcript|UHRF1BP1_uc010jvn.3_Non-coding_Transcript|UHRF1BP1_uc010jvo.3_Non-coding_Transcript	NM_017754	NP_060224	Q6BDS2	URFB1_HUMAN	Homo sapiens UHRF1 binding protein 1 (UHRF1BP1), mRNA.	608										breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						TCCCCAGGCCCTTGTCTTCTC	0.498000														61			6		1	1	1	1	0
PROKR1	10887	broad.mit.edu	37	2	68882376	68882376	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:68882376C>A	uc010yqj.2	+	1	1010	c.850C>A	c.(850-852)Ctg>Atg	p.L284M	PROKR1_uc002ses.3_Non-coding_Transcript	NM_138964	NP_620414	Q8TCW9	PKR1_HUMAN	Homo sapiens prokineticin receptor 1 (PROKR1), mRNA.	284						integral to membrane|plasma membrane	neuropeptide Y receptor activity			endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						GAAGACGGTCCTGGTGCTCAT	0.612000														32			11		0.0135373	0.0139797	1	1	0
POLE	5426	broad.mit.edu	37	12	133241015	133241015	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:133241015G>A	uc001uks.1	-	21	2546	c.2502C>T	c.(2500-2502)atC>atT	p.I834I	POLE_uc010tbq.1_Non-coding_Transcript|POLE_uc009zyu.1_Silent_p.I807I	NM_006231	NP_006222	Q07864	DPOE1_HUMAN	Homo sapiens polymerase (DNA directed), epsilon (POLE), mRNA.	834					DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity|chromatin binding|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		TGAAGCAGACGATGCCAGCCA	0.627000								DNA polymerases (catalytic subunits)						17			14		0	0	1	0	0
RTF1	23168	broad.mit.edu	37	15	41749993	41749993	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:41749993C>T	uc001zny.3	+	3	593	c.581C>T	c.(580-582)gCc>gTc	p.A194V		NM_015138	NP_055953	Q92541	RTF1_HUMAN	Homo sapiens Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae) (RTF1), mRNA.	194	Glu-rich.				histone modification|regulation of transcription, DNA-dependent|transcription initiation, DNA-dependent	nucleoplasm	protein binding|single-stranded DNA binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	18		all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119)		GAAGACAGGGCCCGTCTGGAA	0.478000														108			12		0	0	1	0	0
AKAP9	10142	broad.mit.edu	37	7	91731986	91731986	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:91731986C>A	uc003ulg.3	+	45	11401	c.11176C>A	c.(11176-11178)Ctg>Atg	p.L3726M	AKAP9_uc003ulf.3_Missense_Mutation_p.L3718M|AKAP9_uc003uli.3_Missense_Mutation_p.L3349M|AKAP9_uc003ulj.3_Missense_Mutation_p.L1496M|AKAP9_uc003ull.3_Missense_Mutation_p.L622M	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	Homo sapiens A kinase (PRKA) anchor protein (yotiao) 9 (AKAP9), transcript variant 2, mRNA.	3730	Poly-Leu.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	Golgi apparatus|centrosome|cytosol	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GCTGCTGTTACTGGGTGGGTT	0.488000			T	BRAF	papillary thyroid									207			14		9.31168e-06	1.03939e-05	1	1	0
TMEM176B	28959	broad.mit.edu	37	7	150490258	150490258	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:150490258G>A	uc022apx.1	-	3	644	c.518C>T	c.(517-519)aCc>aTc	p.T173I	TMEM176B_uc003whu.4_Missense_Mutation_p.T173I|TMEM176B_uc003whv.4_Missense_Mutation_p.T136I|TMEM176B_uc003whw.4_Missense_Mutation_p.T173I	NM_014020	NP_054739	Q3YBM2	T176B_HUMAN	Homo sapiens transmembrane protein 176B (TMEM176B), transcript variant 1, mRNA.	173					cell differentiation|organ morphogenesis	integral to membrane|nuclear membrane				cervix(1)|large_intestine(4)|lung(10)|ovary(1)|skin(3)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GTACCCAGTGGTAGGGAAGAC	0.507000														45			49		0	0	1	0	0
ZSWIM2	151112	broad.mit.edu	37	2	187693346	187693346	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:187693346C>A	uc002upu.1	-	8	1307	c.1267G>T	c.(1267-1269)Gat>Tat	p.D423Y		NM_182521	NP_872327	Q8NEG5	ZSWM2_HUMAN	Homo sapiens zinc finger, SWIM-type containing 2 (ZSWIM2), mRNA.	423					apoptosis		zinc ion binding	p.D423Y(2)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			ATAAAAAGATCTGGTTCTTTC	0.338000														56			5		0.000602214	0.000641151	1	1	0
TULP2	7288	broad.mit.edu	37	19	49385367	49385367	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:49385367C>T	uc002pkz.2	-	11	1520	c.1369G>A	c.(1369-1371)Ggt>Agt	p.G457S		NM_003323	NP_003314	O00295	TULP2_HUMAN	Homo sapiens tubby like protein 2 (TULP2), mRNA.	457					visual perception	cytoplasm|extracellular region				NS(1)|breast(2)|central_nervous_system(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	22		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234)		GTGTAGACACCGTTCTCCTTG	0.512000														49			35		0	0	1	0	0
CUL2	8453	broad.mit.edu	37	10	35333549	35333549	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:35333549T>G	uc010qer.2	-	7	820	c.716A>C	c.(715-717)aAa>aCa	p.K239T	CUL2_uc021ppa.1_Missense_Mutation_p.K233T|CUL2_uc009xma.3_Missense_Mutation_p.K89T|CUL2_uc001ixv.3_Missense_Mutation_p.K220T|CUL2_uc001ixw.3_Missense_Mutation_p.K220T|CUL2_uc010qes.2_Missense_Mutation_p.K157T	NM_001198778	NP_001185707	Q13617	CUL2_HUMAN	Homo sapiens cullin 2 (CUL2), transcript variant 1, mRNA.	220					G1/S transition of mitotic cell cycle|cell cycle arrest|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex	ubiquitin protein ligase binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2)	31						AGCTTCTTGTTTGTAATACTC	0.284000														39			22		0	0	1	0	0
ZFYVE26	23503	broad.mit.edu	37	14	68274397	68274397	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:68274397G>A	uc001xka.2	-	4	743	c.604C>T	c.(604-606)Cgg>Tgg	p.R202W	ZFYVE26_uc010tsz.1_Non-coding_Transcript|ZFYVE26_uc001xkc.4_Missense_Mutation_p.R202W|ZFYVE26_uc010tta.2_Missense_Mutation_p.R202W	NM_015346	NP_056161	Q68DK2	ZFY26_HUMAN	Homo sapiens zinc finger, FYVE domain containing 26 (ZFYVE26), mRNA.	202					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding	p.R202L(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		TGCAAAGCCCGCAATGCCTTT	0.612000														77			59		0	0	1	0	0
MED12	9968	broad.mit.edu	37	X	70352363	70352363	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:70352363G>A	uc004dyy.3	+	30	4589	c.4390G>A	c.(4390-4392)Gaa>Aaa	p.E1464K	MED12_uc011mpq.1_Missense_Mutation_p.E1464K|MED12_uc004dyz.3_Missense_Mutation_p.E1464K|MED12_uc004dza.3_Missense_Mutation_p.E1311K|MED12_uc010nla.3_Missense_Mutation_p.E90K	NM_005120	NP_005111	Q93074	MED12_HUMAN	Homo sapiens mediator complex subunit 12 (MED12), mRNA.	1464					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					TTCACGCAAAGAACGTGATCG	0.517000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome							4			4		0	0	1	0	0
ELOVL5	60481	broad.mit.edu	37	6	53139925	53139925	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:53139925G>T	uc011dwx.2	-	5	911	c.540C>A	c.(538-540)atC>atA	p.I180I	ELOVL5_uc003pbq.1_Silent_p.I153I|ELOVL5_uc003pbr.2_Silent_p.I153I|ELOVL5_uc003pbs.2_Silent_p.I153I	NM_001242828	NP_001229757	Q9NYP7	ELOV5_HUMAN	Homo sapiens ELOVL fatty acid elongase 5 (ELOVL5), transcript variant 2, mRNA.	153				YFGATLNSFIHVLMYSYYGLSSVPSMRPYLWWKKYITQGQL LQFVLTIIQTSCGVIWPCTFPLGWLYFQIGYMISLIALFTN FYIQTYNKKGASRR -> SVCADNHPDQLRGHLAVHIPSWL VVFPDWIHDFPDCSLHKLLHSDLQQERGLPKERPPEGPPEW VHGCCEWTHQQLFTPGKQCEAKEAAEGLKSKN (in Ref. 4; BAD93035).	fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, polyunsaturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7	Lung NSC(77;0.116)					CAAACCACCAGATGTTCAGCA	0.507000														35			8		0.00307968	0.00322291	1	1	0
EXTL1	2134	broad.mit.edu	37	1	26357053	26357053	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:26357053C>A	uc001blf.3	+	3	1935	c.1068C>A	c.(1066-1068)tcC>tcA	p.S356S		NM_004455	NP_004446	Q92935	EXTL1_HUMAN	Homo sapiens exostoses (multiple)-like 1 (EXTL1), mRNA.	356					skeletal system development	integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)		CCTACTTCTCCTCAGTGGAGA	0.597000														65			8		0.000274275	0.000294507	1	1	0
ISLR2	57611	broad.mit.edu	37	15	74425650	74425650	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:74425650C>T	uc002axd.3	+	3	1324	c.555C>T	c.(553-555)tgC>tgT	p.C185C	ISLR2_uc002axe.3_Silent_p.C185C|ISLR2_uc010bjg.3_Silent_p.C185C|ISLR2_uc010bjf.3_Silent_p.C185C|ISLR2_uc021sqe.1_Silent_p.C185C	NM_001130136	NP_065902	Q6UXK2	ISLR2_HUMAN	Homo sapiens immunoglobulin superfamily containing leucine-rich repeat 2 (ISLR2), transcript variant 1, mRNA.	185	LRRCT.				positive regulation of axon extension	cell surface|integral to membrane|plasma membrane				breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						CCTTCCACTGCGGCTGCGGCC	0.657000														63			46		0	0	1	0	0
CLK1	1195	broad.mit.edu	37	2	201722764	201722764	+	Nonsense_Mutation	SNP	G	T	T	rs140826426	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:201722764G>T	uc002uwe.2	-	5	778	c.597C>A	c.(595-597)taC>taA	p.Y199*	CLK1_uc010zhi.1_Nonsense_Mutation_p.Y241*|CLK1_uc002uwf.2_5'UTR|CLK1_uc002uwg.2_Nonsense_Mutation_p.Y48*	NM_004071	NP_004062	P49759	CLK1_HUMAN	Homo sapiens CDC-like kinase 1 (CLK1), transcript variant 1, mRNA.	199	Protein kinase.				cell proliferation	nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			NS(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(12)|ovary(1)|pancreas(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						CAGCTTCACAGTATCTATCCA	0.378000														77			12		0.00010058	0.000109296	1	1	0
SLC17A8	246213	broad.mit.edu	37	12	100790181	100790181	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:100790181C>T	uc010svi.2	+	4	975	c.662C>T	c.(661-663)aCa>aTa	p.T221I	SLC17A8_uc009ztx.3_Missense_Mutation_p.T221I	NM_139319	NP_647480	Q8NDX2	VGLU3_HUMAN	Homo sapiens solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8 (SLC17A8), transcript variant 1, mRNA.	221					neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						CGACTGGCCACAACCTCTTTT	0.458000														34			16		0	0	1	0	0
DFFB	1677	broad.mit.edu	37	1	3782428	3782428	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:3782428G>A	uc001alc.3	+	2	617	c.294G>A	c.(292-294)ggG>ggA	p.G98G	DFFB_uc001ale.3_Non-coding_Transcript|DFFB_uc009vlp.3_Non-coding_Transcript|DFFB_uc001alb.3_Non-coding_Transcript|DFFB_uc010nzn.2_Silent_p.G122G|DFFB_uc009vlq.3_Non-coding_Transcript|DFFB_uc009vlr.3_Silent_p.G49G|DFFB_uc001ald.3_Silent_p.G34G|DFFB_uc009vln.1_3'UTR|DFFB_uc001ala.1_Intron|DFFB_uc009vlo.1_Silent_p.G98G	NM_004402	NP_004393	O76075	DFFB_HUMAN	Homo sapiens DNA fragmentation factor, 40kDa, beta polypeptide (caspase-activated DNase) (DFFB), mRNA.	98					DNA fragmentation involved in apoptotic nuclear change|apoptotic chromosome condensation|intracellular signal transduction	cytosol|nucleoplasm	deoxyribonuclease activity|enzyme binding			endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227)	all_cancers(23;2.05e-30)|all_epithelial(116;6.22e-21)|all_lung(118;2.65e-08)|Lung NSC(185;6.25e-06)|Breast(487;0.000659)|Renal(390;0.00121)|all_neural(13;0.0019)|Hepatocellular(190;0.00705)|Colorectal(325;0.0113)|all_hematologic(16;0.0194)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0548)|Medulloblastoma(700;0.211)		Epithelial(90;1.18e-39)|OV - Ovarian serous cystadenocarcinoma(86;7.28e-23)|GBM - Glioblastoma multiforme(42;2.95e-17)|Colorectal(212;1.23e-05)|COAD - Colon adenocarcinoma(227;5.94e-05)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00038)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)		CACAGGTGGGGCTCATCCAGG	0.607000														20			20		0	0	1	0	0
LDHB	3945	broad.mit.edu	37	12	21790067	21790067	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:21790067C>T	uc001rfd.3	-	6	1108	c.775G>A	c.(775-777)Gat>Aat	p.D259N	LDHB_uc001rfe.3_Missense_Mutation_p.D259N	NM_001174097	NP_002291	P07195	LDHB_HUMAN	Homo sapiens lactate dehydrogenase B (LDHB), transcript variant 2, mRNA.	259					glycolysis|pyruvate metabolic process	cytosol	L-lactate dehydrogenase activity			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	26					NADH(DB00157)	TCAATAAGATCAGCCACACTT	0.343000														63			44		0	0	1	0	0
ROBO2	6092	broad.mit.edu	37	3	77600087	77600087	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:77600087C>A	uc011bgk.2	+	8	1833	c.1190C>A	c.(1189-1191)gCt>gAt	p.A397D	ROBO2_uc021xat.1_Missense_Mutation_p.A409D|ROBO2_uc003dpy.4_Missense_Mutation_p.A393D|ROBO2_uc003dpz.3_Missense_Mutation_p.A397D|ROBO2_uc011bgj.2_Non-coding_Transcript	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 2 (Drosophila) (ROBO2), transcript variant 2, mRNA.	393	Ig-like C2-type 4.				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		ATCTGCCAGGCTTTAACTGTG	0.443000														36			23		3.83957e-06	4.31694e-06	1	1	0
C8B	732	broad.mit.edu	37	1	57415267	57415267	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:57415267G>A	uc001cyp.3	-	5	892	c.825C>T	c.(823-825)ggC>ggT	p.G275G	C8B_uc010oon.2_Silent_p.G213G|C8B_uc010ooo.2_Silent_p.G223G	NM_000066	NP_000057	P07358	CO8B_HUMAN	Homo sapiens complement component 8, beta polypeptide (C8B), mRNA.	275	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						TATAGTGTTTGCCTCGATCAC	0.368000														40			22		0	0	1	0	0
PTCHD1	139411	broad.mit.edu	37	X	23411710	23411710	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:23411710A>G	uc004dal.4	+	2	2083	c.2075A>G	c.(2074-2076)tAt>tGt	p.Y692C		NM_173495	NP_775766	Q96NR3	PTHD1_HUMAN	Homo sapiens patched domain containing 1 (PTCHD1), mRNA.	692					cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						ATGGATCGATATGCCTCCTCT	0.493000														53			40		0	0	1	0	0
BARD1	580	broad.mit.edu	37	2	215646227	215646227	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:215646227T>G	uc002veu.2	-	3	506	c.371A>C	c.(370-372)aAa>aCa	p.K124T	BARD1_uc021vwe.1_Missense_Mutation_p.K105T|BARD1_uc021vwf.1_Missense_Mutation_p.K27T|BARD1_uc021vwg.1_Intron|BARD1_uc021vwh.1_Intron|BARD1_uc021vwi.1_Intron|BARD1_uc021vwc.1_Intron|BARD1_uc021vwd.1_Intron|BARD1_uc010zjm.1_5'UTR|BARD1_uc021vwj.1_Missense_Mutation_p.K124T	NM_000465	NP_000456	Q99728	BARD1_HUMAN	Homo sapiens BRCA1 associated RING domain 1 (BARD1), mRNA.	124					DNA repair|cell cycle arrest|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis	BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm	RNA binding|kinase binding|protein heterodimerization activity|protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding			NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35		Renal(323;0.0243)		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TTTATCTTCTTTCAAATCTGA	0.333000									Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome					66			7		0	0	1	0	0
UNC5CL	222643	broad.mit.edu	37	6	40999435	40999435	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:40999435C>T	uc003opi.3	-	5	1203	c.1104G>A	c.(1102-1104)atG>atA	p.M368I		NM_173561	NP_775832	Q8IV45	UN5CL_HUMAN	Homo sapiens unc-5 homolog C (C. elegans)-like (UNC5CL), mRNA.	368	Interaction with RELA and NFKB1.				signal transduction	cytoplasm|integral to membrane				endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					GGAAGGTGTGCATGGTGACAA	0.552000														87			7		0	0	1	0	0
RUVBL1	8607	broad.mit.edu	37	3	127831743	127831743	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:127831743G>A	uc003ekh.3	-	2	453	c.349C>T	c.(349-351)Cgc>Tgc	p.R117C	RUVBL1_uc003ekf.3_Missense_Mutation_p.R57C|RUVBL1_uc010hss.3_Missense_Mutation_p.R117C	NM_003707	NP_003698	Q9Y265	RUVB1_HUMAN	Homo sapiens RuvB-like 1 (E. coli) (RUVBL1), mRNA.	117					CenH3-containing nucleosome assembly at centromere|DNA recombination|DNA repair|cell division|histone H2A acetylation|histone H4 acetylation|mitosis|regulation of growth|regulation of transcription from RNA polymerase II promoter|spermatogenesis|transcription, DNA-dependent	Golgi apparatus|Ino80 complex|MLL1 complex|NuA4 histone acetyltransferase complex|membrane|microtubule organizing center|nuclear matrix	ATP binding|DNA helicase activity|protein binding	p.R117C(4)		endometrium(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26				GBM - Glioblastoma multiforme(114;0.181)		ATGGCCCTGCGGAAGTTCTCC	0.512000														40			30		0	0	1	0	0
NHSL2	340527	broad.mit.edu	37	X	71359883	71359883	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:71359883C>T	uc011mqa.2	+	5	2485	c.2485C>T	c.(2485-2487)Cgt>Tgt	p.R829C	NHSL2_uc004eak.1_Missense_Mutation_p.R463C|NHSL2_uc010nli.2_Missense_Mutation_p.R598C	NM_001013627	NP_001013649	F5H593	F5H593_HUMAN	Homo sapiens NHS-like 2 (NHSL2), mRNA.	829										NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1)	28	Renal(35;0.156)					GTCCGACCTACGTTCTGTTCG	0.522000														13			4		0	0	1	0	0
FAM214A	56204	broad.mit.edu	37	15	52900776	52900776	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:52900776T>C	uc010ugf.2	-	4	2490	c.2356A>G	c.(2356-2358)Aca>Gca	p.T786A	FAM214A_uc002acg.4_Missense_Mutation_p.T779A|FAM214A_uc002ach.4_Non-coding_Transcript|FAM214A_uc010bfg.1_Missense_Mutation_p.T691A	NM_019600	NP_062546	Q32MH5	K1370_HUMAN	Homo sapiens family with sequence similarity 214, member A (FAM214A), mRNA.	779																	AATACCTCTGTATTTTTTGGT	0.318000														54			40		0	0	1	0	0
KIAA1279	26128	broad.mit.edu	37	10	70775831	70775831	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:70775831C>A	uc001joy.3	+	6	1637	c.1525C>A	c.(1525-1527)Ctt>Att	p.L509I		NM_015634	NP_056449	Q96EK5	KBP_HUMAN	Homo sapiens KIAA1279 (KIAA1279), nuclear gene encoding mitochondrial protein, mRNA.	509					cell differentiation|mitochondrial transport|nervous system development	mitochondrion	kinesin binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	14						AATAAATAATCTTAATAAGTC	0.393000														50			7		0.00198382	0.00208369	1	1	0
VIM	7431	broad.mit.edu	37	10	17277379	17277379	+	Missense_Mutation	SNP	A	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:17277379A>T	uc001iou.2	+	6	1633	c.1220A>T	c.(1219-1221)gAg>gTg	p.E407V		NM_003380	NP_003371	P08670	VIME_HUMAN	Homo sapiens vimentin (VIM), mRNA.	407	Coil 2.|Rod.				cellular component disassembly involved in apoptosis|cellular component movement|interspecies interaction between organisms|muscle filament sliding	cytosol|intermediate filament	protein C-terminus binding|structural constituent of cytoskeleton	p.E407K(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CTGGAAGGCGAGGAGAGCAGG	0.498000														38			7		0	0	1	0	0
TMEM2	23670	broad.mit.edu	37	9	74361227	74361227	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:74361227C>A	uc011lsa.1	-	2	902	c.362G>T	c.(361-363)aGg>aTg	p.R121M	TMEM2_uc010mos.2_Missense_Mutation_p.R121M|TMEM2_uc011lsb.1_Non-coding_Transcript	NM_013390	NP_037522	Q9UHN6	TMEM2_HUMAN	Homo sapiens transmembrane protein 2 (TMEM2), transcript variant 1, mRNA.	121	G8.					integral to membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		ATCCCAATTCCTGAGACGAGG	0.418000														43			31		1.21669e-08	1.43261e-08	1	1	0
GRIN3A	116443	broad.mit.edu	37	9	104432710	104432710	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:104432710T>C	uc004bbp.2	-	2	2585	c.1984A>G	c.(1984-1986)Aca>Gca	p.T662A	GRIN3A_uc004bbq.1_Missense_Mutation_p.T662A	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl-D-aspartate 3A (GRIN3A), mRNA.	662					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	GGAGCTGCTGTATCTCGGGTC	0.522000														77			6		0	0	1	0	0
FAM176C	59271	broad.mit.edu	37	21	33829975	33829975	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:33829975A>G	uc002ypr.1	+	2	838	c.428A>G	c.(427-429)gAc>gGc	p.D143G	FAM176C_uc010glw.1_Missense_Mutation_p.D143G|FAM176C_uc002yps.1_Non-coding_Transcript|FAM176C_uc002ypu.1_Missense_Mutation_p.D48G	NM_058187	NP_478067	P58658	CU063_HUMAN	Homo sapiens chromosome 21 open reading frame 63 (C21orf63), mRNA.	143	SUEL-type lectin 1.					integral to membrane	sugar binding										TTTGGACCTGACCTTTGTCCA	0.527000														44			35		0	0	1	0	0
TMPRSS15	5651	broad.mit.edu	37	21	19653381	19653381	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:19653381G>A	uc002ykw.3	-	21	2675	c.2644C>T	c.(2644-2646)Ctg>Ttg	p.L882L		NM_002772	NP_002763	P98073	ENTK_HUMAN	Homo sapiens transmembrane protease, serine 15 (TMPRSS15), mRNA.	882	Peptidase S1.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						TTAAATTCCAGATGCATCATG	0.328000														100			53		0	0	1	0	0
KRTAP19-2	337969	broad.mit.edu	37	21	31859657	31859657	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:31859657C>T	uc011acy.2	-	0	11	c.11G>A	c.(10-12)gGc>gAc	p.G4D		NM_181608	NP_853639	Q3LHN2	KR192_HUMAN	Homo sapiens keratin associated protein 19-2 (KRTAP19-2), mRNA.	4						intermediate filament				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						ACAGCCGTAGCCATAGCACAT	0.567000														137			9		0	0	1	0	0
IGSF10	285313	broad.mit.edu	37	3	151165712	151165712	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:151165712G>T	uc011bod.2	-	3	2057	c.2057C>A	c.(2056-2058)cCt>cAt	p.P686H		NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	Homo sapiens immunoglobulin superfamily, member 10 (IGSF10), transcript variant 1, mRNA.	686					cell differentiation|multicellular organismal development|ossification	extracellular region		p.P686L(2)|p.P686S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ATGAGCAATAGGATTGGACTC	0.463000														32			22		1.96292e-10	2.36921e-10	1	1	0
VEGFA	7422	broad.mit.edu	37	6	43748509	43748509	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:43748509C>T	uc003owh.3	+	5	1501	c.1003C>T	c.(1003-1005)Cgc>Tgc	p.R335C	VEGFA_uc003owd.3_Intron|VEGFA_uc010jyx.3_Intron|VEGFA_uc003owf.3_Missense_Mutation_p.R335C|VEGFA_uc003owg.3_Missense_Mutation_p.R335C|VEGFA_uc003owe.3_Intron|VEGFA_uc021yzu.1_Missense_Mutation_p.R334C|VEGFA_uc003owj.3_Intron|VEGFA_uc003owi.3_Intron|VEGFA_uc003owk.3_Intron	NM_001171623	NP_001165094	P15692	VEGFA_HUMAN	Homo sapiens vascular endothelial growth factor A (VEGFA), transcript variant 1, mRNA.	155					basophil chemotaxis|cellular response to hypoxia|induction of positive chemotaxis|platelet activation|platelet degranulation|platelet-derived growth factor receptor signaling pathway|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of cell adhesion|positive regulation of cell division|positive regulation of endothelial cell proliferation|positive regulation of leukocyte migration|positive regulation of mast cell chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|positive regulation of vascular permeability|regulation of cell shape|vascular endothelial growth factor receptor signaling pathway|vasculogenesis	cell surface|extracellular space|membrane|platelet alpha granule lumen	cell surface binding|chemoattractant activity|cytokine activity|fibronectin binding|growth factor activity|heparin binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity|vascular endothelial growth factor receptor 1 binding|vascular endothelial growth factor receptor 2 binding|vascular endothelial growth factor receptor binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	9	all_cancers(18;5.46e-07)|all_epithelial(2;5.96e-08)|Lung NSC(15;0.000157)|all_lung(25;0.000486)|Hepatocellular(11;0.00309)		all cancers(41;0.000413)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0742)|OV - Ovarian serous cystadenocarcinoma(102;0.196)		Atorvastatin(DB01076)|Bevacizumab(DB00112)|Carvedilol(DB01136)|Ginkgo biloba(DB01381)|Gliclazide(DB01120)|Minocycline(DB01017)|Ranibizumab(DB01270)|Simvastatin(DB00641)	AAAACGAAAGCGCAAGAAATC	0.547000														54			28		0	0	1	0	0
SPRY1	10252	broad.mit.edu	37	4	124323657	124323657	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:124323657A>G	uc003ifa.3	+	1	1098	c.911A>G	c.(910-912)tAt>tGt	p.Y304C	SPRY1_uc003ifb.3_Missense_Mutation_p.Y304C|SPRY1_uc021xro.1_Missense_Mutation_p.Y304C	NM_199327	NP_955359	O43609	SPY1_HUMAN	Homo sapiens sprouty homolog 1, antagonist of FGF signaling (Drosophila) (SPRY1), transcript variant 2, mRNA.	304	Cys-rich.				epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|lamellipodium|plasma membrane				NS(1)|large_intestine(4)|lung(2)|ovary(1)|skin(3)	11						AACACTGTCTATTGTAAGCTG	0.502000														106			11		0	0	1	0	0
SNRPD3	6634	broad.mit.edu	37	22	24964127	24964127	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:24964127C>T	uc003aam.1	+	2	742	c.302C>T	c.(301-303)gCt>gTt	p.A101V	SNRPD3_uc011aju.2_Missense_Mutation_p.A101V	NM_004175	NP_004166	P62318	SMD3_HUMAN	Homo sapiens small nuclear ribonucleoprotein D3 polypeptide 18kDa (SNRPD3), mRNA.	101	Arg/Lys-rich (basic).				histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|termination of RNA polymerase II transcription	U12-type spliceosomal complex|U7 snRNP|catalytic step 2 spliceosome|cytosol|nucleoplasm	enzyme binding|histone pre-mRNA DCP binding			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6						GGAAAAGCTGCTATTCTCAAG	0.453000														50			9		0	0	1	0	0
SEL1L3	23231	broad.mit.edu	37	4	25835087	25835087	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:25835087A>G	uc003gru.4	-	3	1117	c.965T>C	c.(964-966)gTa>gCa	p.V322A		NM_015187	NP_056002	Q68CR1	SE1L3_HUMAN	Homo sapiens sel-1 suppressor of lin-12-like 3 (C. elegans) (SEL1L3), mRNA.	322						integral to membrane	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						CGTAAGAAATACAGAAGGTGT	0.373000														19			12		0	0	1	0	0
RNF40	9810	broad.mit.edu	37	16	30776312	30776312	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:30776312C>T	uc002dzq.3	+	5	1523	c.703C>T	c.(703-705)Cgt>Tgt	p.R235C	C16orf93_uc002dzm.3_5'Flank|C16orf93_uc002dzp.3_5'Flank|RNF40_uc010caa.3_Missense_Mutation_p.R235C|RNF40_uc010cab.3_Missense_Mutation_p.R235C|RNF40_uc010vfa.2_Intron|RNF40_uc010vfb.2_Intron|RNF40_uc002dzr.3_Missense_Mutation_p.R235C	NM_014771	NP_055586	O75150	BRE1B_HUMAN	Homo sapiens ring finger protein 40 (RNF40), transcript variant 1, mRNA.	235					histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process	nucleus|synaptosome|ubiquitin ligase complex	protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30			Colorectal(24;0.198)			AGAGCTGGGCCGTGAGAACCG	0.647000														30			10		0	0	1	0	0
SLC43A1	8501	broad.mit.edu	37	11	57258700	57258700	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:57258700G>A	uc001nkk.3	-	10	1308	c.1190C>T	c.(1189-1191)gCc>gTc	p.A397V	SLC43A1_uc001nkl.3_Missense_Mutation_p.A397V	NM_001198810	NP_001185739	O75387	LAT3_HUMAN	Homo sapiens solute carrier family 43, member 1 (SLC43A1), transcript variant 2, mRNA.	397					cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	neutral amino acid transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						AGGTCACCTGGCATCTCCGAG	0.552000														23			10		0	0	1	0	0
ZNF383	163087	broad.mit.edu	37	19	37734511	37734511	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:37734511C>T	uc002oft.1	+	7	1953	c.1373C>T	c.(1372-1374)gCt>gTt	p.A458V	ZNF383_uc002ofs.1_Missense_Mutation_p.A393V|ZNF383_uc002ofu.1_Missense_Mutation_p.A458V	NM_152604	NP_689817	Q8NA42	ZN383_HUMAN	Homo sapiens zinc finger protein 383 (ZNF383), mRNA.	458					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)	15			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGTGGGAAGGCTTTTAGTAGT	0.368000														47			36		0	0	1	0	0
GCC2	9648	broad.mit.edu	37	2	109086935	109086935	+	Nonsense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:109086935G>T	uc002tec.3	+	5	1304	c.1150G>T	c.(1150-1152)Gag>Tag	p.E384*	GCC2_uc002ted.3_Nonsense_Mutation_p.E283*	NM_181453	NP_852118	Q8IWJ2	GCC2_HUMAN	Homo sapiens GRIP and coiled-coil domain containing 2 (GCC2), transcript variant 1, mRNA.	384					Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding	p.E384Q(2)		breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						GGAAGACTTAGAGTTTAAAAT	0.284000														46			34		7.11191e-15	8.93066e-15	1	1	0
INSR	3643	broad.mit.edu	37	19	7267515	7267515	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:7267515C>A	uc002mgd.1	-	1	602	c.493G>T	c.(493-495)Gat>Tat	p.D165Y	INSR_uc002mge.1_Missense_Mutation_p.D165Y|INSR_uc002mgf.3_Missense_Mutation_p.D165Y	NM_000208	NP_000199	P06213	INSR_HUMAN	Homo sapiens insulin receptor (INSR), transcript variant 1, mRNA.	165					G-protein coupled receptor protein signaling pathway|activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of DNA replication|positive regulation of MAPKKK cascade|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|PTB domain binding|SH2 domain binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|receptor signaling protein tyrosine kinase activity			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TCCACGGAATCCAGGATACGG	0.537000														51			7		1.26484e-09	1.50989e-09	1	1	0
PREX1	57580	broad.mit.edu	37	20	47242464	47242464	+	Splice_Site	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:47242464G>T	uc002xtw.1	-	40	4961	c.4938_splice	c.e40-1	p.R1646_splice	PREX1_uc021wer.1_Non-coding_Transcript|PREX1_uc002xtv.1_Splice_Site_p.R943_splice	NM_020820	NP_065871	Q8TCU6	PREX1_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1 (PREX1), mRNA.	1646					actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|enzyme binding|phospholipid binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			AGGCGGTAGAGGCTGGGGATG	0.582000														5			4		0.217242	0.21859	1	1	0
FBXO24	26261	broad.mit.edu	37	7	100190525	100190525	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100190525C>A	uc011kjz.1	+	4	860	c.792C>A	c.(790-792)gtC>gtA	p.V264V	FBXO24_uc010lha.1_Non-coding_Transcript|FBXO24_uc003uvl.1_Silent_p.V212V|FBXO24_uc003uvm.1_Silent_p.V226V|FBXO24_uc003uvn.1_Intron|LOC100129845_uc011kjy.2_Non-coding_Transcript|FBXO24_uc011kka.1_Silent_p.V214V|LOC100129845_uc022air.1_Non-coding_Transcript	NM_012172	NP_036304	O75426	FBX24_HUMAN	Homo sapiens F-box protein 24 (FBXO24), transcript variant 3, mRNA.	226						ubiquitin ligase complex	ubiquitin-protein ligase activity			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					GTGTTGAGGTCTATCTGCAGT	0.567000														52			18		9.16793e-09	1.08001e-08	1	1	0
MXRA5	25878	broad.mit.edu	37	X	3229611	3229611	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:3229611C>T	uc004crg.4	-	6	6790	c.6633G>A	c.(6631-6633)gtG>gtA	p.V2211V		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	2211	Ig-like C2-type 6.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CTTTGTCCGTCACTGATTTCA	0.453000														75			10		0	0	1	0	0
MECOM	2122	broad.mit.edu	37	3	168834323	168834323	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:168834323G>T	uc011bpj.1	-	7	1740	c.1337C>A	c.(1336-1338)cCt>cAt	p.P446H	MECOM_uc010hwk.1_Missense_Mutation_p.P281H|MECOM_uc003ffj.3_Missense_Mutation_p.P323H|MECOM_uc003ffi.3_Missense_Mutation_p.P258H|MECOM_uc011bpi.1_Missense_Mutation_p.P259H|MECOM_uc003ffn.3_Missense_Mutation_p.P258H|MECOM_uc003ffk.2_Missense_Mutation_p.P258H|MECOM_uc003ffl.2_Missense_Mutation_p.P418H|MECOM_uc011bpk.1_Missense_Mutation_p.P258H|MECOM_uc010hwn.2_Missense_Mutation_p.P446H	NM_004991	NP_004982	Q13465	MDS1_HUMAN	Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA.	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						TGGGGTTCCAGGAAGTGAAAT	0.473000														87			12		3.03607e-14	3.79918e-14	1	1	0
THAP6	152815	broad.mit.edu	37	4	76452331	76452331	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:76452331T>C	uc003him.3	+	4	673	c.576T>C	c.(574-576)gaT>gaC	p.D192D	THAP6_uc003hin.3_Silent_p.D150D|THAP6_uc011cbm.2_Intron|THAP6_uc010iiu.1_Intron|THAP6_uc003hio.1_Intron|THAP6_uc010iiv.3_Silent_p.D192D	NM_144721	NP_653322	Q8TBB0	THAP6_HUMAN	Homo sapiens THAP domain containing 6 (THAP6), mRNA.	192						microtubule cytoskeleton	DNA binding|metal ion binding			lung(5)	5			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			AATTAAAGGATGAATGTCTGA	0.393000														93			11		0	0	1	0	0
TMEM189-UBE2V1	387522	broad.mit.edu	37	20	48699376	48699376	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:48699376G>A	uc002xva.3	-	3	418	c.373C>T	c.(373-375)Cgg>Tgg	p.R125W	TMEM189-UBE2V1_uc002xvf.3_Missense_Mutation_p.R348W|TMEM189-UBE2V1_uc002xvb.3_Non-coding_Transcript|TMEM189-UBE2V1_uc002xvc.3_Missense_Mutation_p.R81W|TMEM189-UBE2V1_uc002xvd.3_Missense_Mutation_p.R148W|TMEM189-UBE2V1_uc002xve.3_Missense_Mutation_p.R148W	NM_001032288	NP_001027459	A5PLL7	TM189_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2 variant 1 (UBE2V1), transcript variant 4, mRNA.	0						endoplasmic reticulum membrane|integral to membrane				breast(1)|endometrium(4)|large_intestine(6)|lung(6)	17			BRCA - Breast invasive adenocarcinoma(9;8.29e-07)			ATTAGGCGCCGAAGCTCTTGC	0.443000														50			38		0	0	1	0	0
DLGAP3	58512	broad.mit.edu	37	1	35370053	35370053	+	Missense_Mutation	SNP	C	T	T	rs141061512	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:35370053C>T	uc001byc.3	-	0	932	c.932G>A	c.(931-933)cGc>cAc	p.R311H		NM_001080418	NP_001073887	O95886	DLGP3_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 3 (DLGAP3), mRNA.	311					cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				GGCAAGGCAGCGGCCTTCCGA	0.647000														37			28		0	0	1	0	0
OMD	4958	broad.mit.edu	37	9	95179567	95179567	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:95179567G>A	uc004asd.4	-	1	643	c.274C>T	c.(274-276)Cac>Tac	p.H92Y	CENPP_uc004arz.3_Intron|CENPP_uc010mqx.3_Intron	NM_005014	NP_005005	Q99983	OMD_HUMAN	Homo sapiens osteomodulin (OMD), mRNA.	92					cell adhesion	proteinaceous extracellular matrix				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|skin(2)	16						TGCTGAATGTGCATCGGAATA	0.383000			T	USP6	aneurysmal bone cysts									138			70		0	0	1	0	0
NOS1AP	9722	broad.mit.edu	37	1	162326911	162326911	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:162326911A>G	uc001gbv.2	+	7	1311	c.924A>G	c.(922-924)caA>caG	p.Q308Q	NOS1AP_uc010pkr.1_Silent_p.Q303Q|NOS1AP_uc001gbw.2_Silent_p.Q303Q|NOS1AP_uc010pks.1_Non-coding_Transcript	NM_014697	NP_055512	O75052	CAPON_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) adaptor protein (NOS1AP), transcript variant 1, mRNA.	308	Poly-Gln.				regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		PDZ domain binding|nitric-oxide synthase binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			AGCAGACACAAGTGGCTGTGG	0.632000														38			4		0	0	1	0	0
PSMB2	5690	broad.mit.edu	37	1	36102014	36102014	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:36102014C>A	uc001bzd.2	-	1	523	c.111G>T	c.(109-111)aaG>aaT	p.K37N	PSMB2_uc010ohz.2_Missense_Mutation_p.K12N|PSMB2_uc001bzf.2_Missense_Mutation_p.K37N	NM_002794	NP_002785	P49721	PSB2_HUMAN	Homo sapiens proteasome (prosome, macropain) subunit, beta type, 2 (PSMB2), transcript variant 1, mRNA.	37					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|interspecies interaction between organisms|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity			endometrium(1)|large_intestine(2)	3		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)			Bortezomib(DB00188)	TTTCACTCATCTTAAACATCT	0.358000														65			37		3.78316e-11	4.61119e-11	1	1	0
RP1	6101	broad.mit.edu	37	8	55541245	55541245	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:55541245G>T	uc003xsd.1	+	3	4951	c.4803G>T	c.(4801-4803)gaG>gaT	p.E1601D	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	1601					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GTGACAGTGAGCAGCCATATA	0.393000														68			9		4.68919e-08	5.46558e-08	1	1	0
SLC38A8	146167	broad.mit.edu	37	16	84050271	84050271	+	Missense_Mutation	SNP	C	T	T	rs140920764		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:84050271C>T	uc002fhg.1	-	7	1015	c.1015G>A	c.(1015-1017)Gcc>Acc	p.A339T		NM_001080442	NP_001073911	A6NNN8	S38A8_HUMAN	Homo sapiens solute carrier family 38, member 8 (SLC38A8), mRNA.	339					amino acid transport|sodium ion transport	integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						GAGGGGTCGGCCAGGGCGCTG	0.647000														30			13		0	0	1	0	0
ITM2A	9452	broad.mit.edu	37	X	78619024	78619024	+	Nonsense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:78619024C>A	uc004edh.3	-	1	476	c.139G>T	c.(139-141)Gag>Tag	p.E47*	ITM2A_uc011mqr.2_Intron	NM_004867	NP_004858	O43736	ITM2A_HUMAN	Homo sapiens integral membrane protein 2A (ITM2A), transcript variant 1, mRNA.	47						integral to membrane	protein binding	p.K46K(1)		breast(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	18						GAGGAGCCCTCTTTTTCCTGG	0.408000														10			12		0.00136819	0.00144449	1	1	0
AMBP	259	broad.mit.edu	37	9	116840374	116840374	+	Splice_Site	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:116840374C>T	uc004bie.4	-	1	380	c.117_splice	c.e1+1	p.R39_splice	AMBP_uc011lxk.2_5'Flank|AMBP_uc010mvc.1_Splice_Site	NM_001633	NP_001624	P02760	AMBP_HUMAN	Homo sapiens alpha-1-microglobulin/bikunin precursor (AMBP), mRNA.	39					cell adhesion|female pregnancy|heme catabolic process|interspecies interaction between organisms|negative regulation of JNK cascade|negative regulation of immune response|protein-chromophore linkage	extracellular region|plasma membrane	IgA binding|calcium channel inhibitor activity|calcium oxalate binding|heme binding|protein homodimerization activity|serine-type endopeptidase inhibitor activity|transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	11					Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	CAGCCTTACCCGAGAGATATT	0.642000														66			5		0	0	1	0	0
CCNL2	81669	broad.mit.edu	37	1	1325839	1325839	+	Splice_Site	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:1325839C>A	uc001afi.2	-	7	896	c.864_splice	c.e7+1	p.K288_splice	CCNL2_uc010nym.1_Splice_Site|CCNL2_uc001aff.1_Splice_Site_p.K66_splice|CCNL2_uc001afg.1_Splice_Site_p.K66_splice|CCNL2_uc001afj.2_Splice_Site_p.K66_splice	NM_030937	NP_112199	Q96S94	CCNL2_HUMAN	Homo sapiens cyclin L2 (CCNL2), transcript variant 1, mRNA.	288					RNA processing|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	protein kinase binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)		GCCGAAGAACCTTTTTCCGAG	0.433000														53			27		9.04412e-07	1.02938e-06	1	1	0
FAM83E	54854	broad.mit.edu	37	19	49104456	49104456	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:49104456G>A	uc002pjn.2	-	4	1412	c.1347C>T	c.(1345-1347)ttC>ttT	p.F449F		NM_017708	NP_060178	Q2M2I3	FA83E_HUMAN	Homo sapiens family with sequence similarity 83, member E (FAM83E), mRNA.	449										NS(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(2)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		CATCCCCACCGAACCGCCTTC	0.706000														10			7		0	0	1	0	0
MYCBP2	23077	broad.mit.edu	37	13	77632512	77632512	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:77632512C>T	uc021rks.1	-	77	13437	c.13170G>A	c.(13168-13170)acG>acA	p.T4390T	MYCBP2_uc010aev.3_Silent_p.T3756T|MYCBP2_uc001vke.3_Silent_p.T969T	NM_015057	NP_055872	O75592	MYCB2_HUMAN	Homo sapiens MYC binding protein 2 (MYCBP2), mRNA.	4352					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		CACAAGGATGCGTCTTACTAC	0.428000														24			16		0	0	1	0	0
KDM4D	55693	broad.mit.edu	37	11	94731271	94731271	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:94731271G>T	uc021qow.1	+	0	735	c.735G>T	c.(733-735)aaG>aaT	p.K245N	KDM4D_uc001pfe.3_Missense_Mutation_p.K245N	NM_018039	NP_060509	Q6B0I6	KDM4D_HUMAN	Homo sapiens lysine (K)-specific demethylase 4D (KDM4D), mRNA.	245	JmjC.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(16)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						TGCGGCACAAGGTGGCCCTCA	0.592000														45			10		0.000442599	0.000473562	1	1	0
SEL1L	6400	broad.mit.edu	37	14	81945967	81945967	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:81945967G>A	uc010tvv.2	-	19	2281	c.2164C>T	c.(2164-2166)Cgg>Tgg	p.R722W		NM_005065	NP_005056	Q9UBV2	SE1L1_HUMAN	Homo sapiens sel-1 suppressor of lin-12-like (C. elegans) (SEL1L), transcript variant 1, mRNA.	722	Interaction with ERLEC1, OS9 and SYVN1.				Notch signaling pathway	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	28				BRCA - Breast invasive adenocarcinoma(234;0.0299)		TTTGTTTCCCGTATGTACTGC	0.443000														44			29		0	0	1	0	0
LIPH	200879	broad.mit.edu	37	3	185236961	185236961	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:185236961G>A	uc003fpm.3	-	5	965	c.855C>T	c.(853-855)ggC>ggT	p.G285G	LIPH_uc010hyh.3_Silent_p.G251G	NM_139248	NP_640341	Q8WWY8	LIPH_HUMAN	Homo sapiens lipase, member H (LIPH), mRNA.	285					lipid catabolic process	extracellular space|plasma membrane	heparin binding|phospholipase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(2)	20	all_cancers(143;8.87e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			TTTGTGACGTGCCGCAGCTGA	0.478000														83			10		0	0	1	0	0
USP53	54532	broad.mit.edu	37	4	120181736	120181736	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:120181736C>A	uc003ics.4	+	9	1816	c.750C>A	c.(748-750)gtC>gtA	p.V250V	USP53_uc003icr.4_Silent_p.V250V|USP53_uc003icu.4_5'UTR	NM_019050	NP_061923	Q70EK8	UBP53_HUMAN	Homo sapiens ubiquitin specific peptidase 53 (USP53), mRNA.	250					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						TTGGTTTAGTCTGGGACTCCG	0.378000														45			31		5.45727e-16	6.89772e-16	1	1	0
GARS	2617	broad.mit.edu	37	7	30673355	30673355	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:30673355C>A	uc003tbm.3	+	16	2456	c.2099C>A	c.(2098-2100)tCt>tAt	p.S700Y		NM_002047	NP_002038	P41250	SYG_HUMAN	Homo sapiens glycyl-tRNA synthetase (GARS), mRNA.	700					cell death|diadenosine tetraphosphate biosynthetic process|glycyl-tRNA aminoacylation	cytosol|mitochondrial matrix|soluble fraction	ATP binding|glycine-tRNA ligase activity|protein dimerization activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	24					Glycine(DB00145)	CTCTAGATCTCTGAGCTGCCC	0.458000														80			40		2.87052e-16	3.63568e-16	1	1	0
FRZB	2487	broad.mit.edu	37	2	183702695	183702695	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:183702695C>T	uc002upa.2	-	4	1060	c.842G>A	c.(841-843)cGa>cAa	p.R281Q		NM_001463	NP_001454	Q92765	SFRP3_HUMAN	Homo sapiens frizzled-related protein (FRZB), mRNA.	281	NTR.				Wnt receptor signaling pathway|brain development|cochlea morphogenesis|gonad development|mammary gland involution|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of hepatocyte differentiation|positive regulation of apoptosis|positive regulation of fat cell differentiation|skeletal system development|vasculature development	cytoplasm|extracellular space|membrane	PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(117;0.109)|Epithelial(96;0.231)			TTTACCGAGTCGATCCTTCCA	0.328000														38			18		0	0	1	0	0
APBB1	322	broad.mit.edu	37	11	6422859	6422859	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6422859C>T	uc001mdb.1	-	8	1542	c.1442G>A	c.(1441-1443)cGc>cAc	p.R481H	APBB1_uc001mdd.3_Missense_Mutation_p.R261H|APBB1_uc001mdc.1_Missense_Mutation_p.R481H|APBB1_uc010rab.2_Missense_Mutation_p.R8H|APBB1_uc010rad.2_Missense_Mutation_p.R200H	NM_001164	NP_001155	O00213	APBB1_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65) (APBB1), transcript variant 1, mRNA.	483	PID 1.				apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding	p.R481L(2)		breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		TGCCTCACAGCGAAACACGTG	0.577000														29			21		0	0	1	0	0
SV2A	9900	broad.mit.edu	37	1	149880744	149880744	+	Splice_Site	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:149880744C>A	uc001etg.3	-	8	1870	c.1379_splice	c.e8+1	p.S460_splice	SV2A_uc009wlk.3_5'Flank|SV2A_uc001eth.2_Splice_Site_p.S460_splice	NM_014849	NP_055664	Q7L0J3	SV2A_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2A (SV2A), mRNA.	460					neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	ATCTCCTCACCTGAATGACAT	0.557000														45			5		0.217242	0.21859	1	1	0
MKI67	4288	broad.mit.edu	37	10	129903287	129903287	+	Nonsense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:129903287C>A	uc001lke.3	-	12	7012	c.6817G>T	c.(6817-6819)Gga>Tga	p.G2273*	MKI67_uc001lkf.3_Nonsense_Mutation_p.G1913*|MKI67_uc009yav.1_Nonsense_Mutation_p.G1848*|MKI67_uc009yaw.1_Nonsense_Mutation_p.G1423*	NM_002417	NP_002408	P46013	KI67_HUMAN	Homo sapiens antigen identified by monoclonal antibody Ki-67 (MKI67), transcript variant 1, mRNA.	2273	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TCATCACCTCCTGCTGGTTTG	0.473000														137			91		2.00703e-41	2.66863e-41	1	1	0
BIN1	274	broad.mit.edu	37	2	127825747	127825747	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:127825747G>A	uc002tns.2	-	6	988	c.604C>T	c.(604-606)Cga>Tga	p.R202*	BIN1_uc010yzf.2_Intron|BIN1_uc002tnt.2_Intron|BIN1_uc010yzg.2_Nonsense_Mutation_p.R202*|BIN1_uc002tnu.2_Intron|BIN1_uc002tnv.2_Nonsense_Mutation_p.R202*|BIN1_uc002tnw.2_Intron|BIN1_uc002tnx.2_Intron|BIN1_uc002tny.2_Nonsense_Mutation_p.R202*|BIN1_uc002tnz.2_Intron|BIN1_uc002toa.2_Intron|BIN1_uc002tob.2_Intron|BIN1_uc002toc.2_Intron	NM_139343	NP_647593	O00499	BIN1_HUMAN	Homo sapiens bridging integrator 1 (BIN1), transcript variant 1, mRNA.	202	BAR.				cell proliferation|endocytosis|interspecies interaction between organisms|multicellular organismal development	actin cytoskeleton|nucleus				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)	24	Colorectal(110;0.0831)			BRCA - Breast invasive adenocarcinoma(221;0.073)		ACCTGATTTCGGAGCAGGTTA	0.612000											OREG0014963	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		7			7		0	0	1	0	0
OR5A2	219981	broad.mit.edu	37	11	59190336	59190336	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:59190336A>C	uc010rkt.2	-	0	91	c.91T>G	c.(91-93)Tta>Gta	p.L31V		NM_001001954	NP_001001954	Q8NGI9	OR5A2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily A, member 2 (OR5A2), mRNA.	31					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	21						CCCAGAAATAACATGAAAAGG	0.453000														59			39		0	0	1	0	0
HIVEP1	3096	broad.mit.edu	37	6	12122175	12122175	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:12122175C>T	uc003nac.3	+	3	2326	c.2147C>T	c.(2146-2148)aCg>aTg	p.T716M	HIVEP1_uc011diq.2_Non-coding_Transcript	NM_002114	NP_002105	P15822	ZEP1_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 1 (HIVEP1), mRNA.	716			T -> A (in dbSNP:rs2228210).		transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				CTTGTCACCACGTCAACACCC	0.527000														27			24		0	0	1	0	0
TUBB	203068	broad.mit.edu	37	6	30690417	30690417	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:30690417C>T	uc003nrl.3	+	1	288	c.161C>T	c.(160-162)gCc>gTc	p.A54V	TUBB_uc011dmq.2_5'UTR	NM_178014	NP_821133	P07437	TBB5_HUMAN	Homo sapiens tubulin, beta class I (TUBB), mRNA.	54					G2/M transition of mitotic cell cycle|cellular component movement|microtubule-based movement|natural killer cell mediated cytotoxicity|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|MHC class I protein binding			breast(1)|endometrium(1)|kidney(8)|large_intestine(3)|lung(1)|ovary(1)|urinary_tract(1)	16					Colchicine(DB01394)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)	TACAATGAAGCCACAGGTAAG	0.582000														7			10		0	0	1	0	0
PIM1	5292	broad.mit.edu	37	6	37139015	37139015	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:37139015A>C	uc003onk.3	+	3	785	c.355A>C	c.(355-357)Atc>Ctc	p.I119L	PIM1_uc011dtw.2_5'Flank	NM_002648	NP_002639	P11309	PIM1_HUMAN	Homo sapiens pim-1 oncogene (PIM1), transcript variant 1, mRNA.	210					cell cycle|cell proliferation|multicellular organismal development|negative regulation of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|protein autophosphorylation	cytoplasm|nucleus|plasma membrane	ATP binding|manganese ion binding|protein binding|protein serine/threonine kinase activity|transcription factor binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(17)|large_intestine(4)|lung(3)|prostate(2)|skin(2)	30			OV - Ovarian serous cystadenocarcinoma(102;0.241)		Adenosine monophosphate(DB00131)	TTTCGTCCTGATCCTGGAGAG	0.602000			T	BCL6	NHL									64			44		0	0	1	0	0
FANCA	2175	broad.mit.edu	37	16	89831452	89831452	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:89831452A>G	uc002fou.1	-	27	2666	c.2624T>C	c.(2623-2625)tTg>tCg	p.L875S	FANCA_uc010vpn.1_Missense_Mutation_p.L875S|FANCA_uc010vpo.2_Missense_Mutation_p.L4S	NM_000135	NP_000126	O15360	FANCA_HUMAN	Homo sapiens Fanconi anemia, complementation group A (FANCA), transcript variant 1, mRNA.	875					DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding			breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		CTCTGAGAACAATCTGAACAT	0.537000			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia					42			23		0	0	1	0	0
MOGS	7841	broad.mit.edu	37	2	74688581	74688581	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:74688581G>A	uc010ffj.3	-	3	2498	c.2335C>T	c.(2335-2337)Cgg>Tgg	p.R779W	MOGS_uc010ffh.3_Missense_Mutation_p.R504W|MOGS_uc010yrt.2_Missense_Mutation_p.R660W|MOGS_uc010ffi.3_Missense_Mutation_p.R673W	NM_006302	NP_001139630	Q13724	MOGS_HUMAN	Homo sapiens mannosyl-oligosaccharide glucosidase (MOGS), transcript variant 1, mRNA.	779					oligosaccharide metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding	endoplasmic reticulum membrane|integral to membrane|membrane fraction	mannosyl-oligosaccharide glucosidase activity			cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2)	23						TTGGCAGCCCGAGCCTGGTGA	0.597000														50			28		0	0	1	0	0
UBXN11	91544	broad.mit.edu	37	1	26611954	26611954	+	Splice_Site	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:26611954C>T	uc001blw.3	-	11	1125	c.852_splice	c.e11+1	p.K284_splice	UBXN11_uc001bly.3_Splice_Site_p.K164_splice|UBXN11_uc001blz.1_Splice_Site_p.K251_splice|UBXN11_uc001blx.3_Splice_Site_p.K42_splice|UBXN11_uc001bma.3_Splice_Site_p.K251_splice|UBXN11_uc010ofb.1_Missense_Mutation_p.V210M|UBXN11_uc010ofc.1_Missense_Mutation_p.V127M	NM_183008	NP_892120	Q5T124	UBX11_HUMAN	Homo sapiens UBX domain protein 11 (UBXN11), transcript variant 2, mRNA.	284	SEP.					cytoplasm|cytoskeleton				endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3)	23						CAGCTTATCACCTTAAAGGGG	0.557000											OREG0013265	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		12			5		0	0	1	0	0
SLC22A9	114571	broad.mit.edu	37	11	63177288	63177288	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:63177288G>A	uc001nww.3	+	9	1884	c.1616G>A	c.(1615-1617)aGa>aAa	p.R539K	SLC22A9_uc001nwx.3_Non-coding_Transcript	NM_080866	NP_543142	Q8IVM8	S22A9_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 9 (SLC22A9), mRNA.	539					transmembrane transport	integral to membrane				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						AAAGACCCCAGAGAACCAAAG	0.418000														18			11		0	0	1	0	0
NOL8	55035	broad.mit.edu	37	9	95077759	95077759	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:95077759T>C	uc022bjx.1	-	6	1485	c.1148A>G	c.(1147-1149)gAa>gGa	p.E383G	NOL8_uc010mqw.3_Non-coding_Transcript|NOL8_uc022bjw.1_Missense_Mutation_p.E315G	NM_017948	NP_060418	Q76FK4	NOL8_HUMAN	Homo sapiens nucleolar protein 8 (NOL8), transcript variant 1, mRNA.	383					DNA replication|positive regulation of cell growth	nucleolus	RNA binding|nucleotide binding|protein binding			endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						CGCAATAATTTCATCTGTATC	0.308000														14			8		0	0	1	0	0
ADAMTS1	9510	broad.mit.edu	37	21	28210177	28210177	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:28210177C>A	uc002ymf.3	-	8	3080	c.2625G>T	c.(2623-2625)caG>caT	p.Q875H		NM_006988	NP_008919	Q9UHI8	ATS1_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 1 (ADAMTS1), mRNA.	875	TSP type-1 2.				integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis		heparin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42		Breast(209;0.000962)		Lung(58;0.215)		CCAGTCTTCTCTGCCAACCCA	0.478000														83			18		1.33834e-09	1.59673e-09	1	1	0
RIOK2	55781	broad.mit.edu	37	5	96504510	96504510	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:96504510G>A	uc003kmz.3	-	6	936	c.826C>T	c.(826-828)Cgt>Tgt	p.R276C	RIOK2_uc003kna.3_Missense_Mutation_p.R276C	NM_018343	NP_060813	Q9BVS4	RIOK2_HUMAN	Homo sapiens RIO kinase 2 (yeast) (RIOK2), transcript variant 1, mRNA.	276	Protein kinase.						ATP binding|protein serine/threonine kinase activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|urinary_tract(2)	23		all_cancers(142;0.000125)|all_epithelial(76;8.48e-07)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0676)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0657)		TAGCTGAAACGTTTCATAAAG	0.323000														79			6		0	0	1	0	0
ADIPOR2	79602	broad.mit.edu	37	12	1863574	1863574	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:1863574G>T	uc001qjm.3	+	1	262	c.65G>T	c.(64-66)aGa>aTa	p.R22I	ADIPOR2_uc001qjn.3_Missense_Mutation_p.R22I	NM_024551	NP_078827	Q86V24	ADR2_HUMAN	Homo sapiens adiponectin receptor 2 (ADIPOR2), mRNA.	22					fatty acid oxidation|hormone-mediated signaling pathway	integral to membrane	hormone binding|receptor activity			endometrium(1)|large_intestine(3)|lung(7)|stomach(1)	12	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000382)			ATAAGGCTCAGAAAAGGGCAC	0.473000														64			6		0.00116845	0.00123466	1	1	0
DDX24	57062	broad.mit.edu	37	14	94528948	94528948	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:94528948G>T	uc001ycj.3	-	2	837	c.738C>A	c.(736-738)gcC>gcA	p.A246A	DDX24_uc010twq.2_Silent_p.A203A|DDX24_uc010twr.2_5'UTR	NM_020414	NP_065147	Q9GZR7	DDX24_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 24 (DDX24), mRNA.	246	Helicase ATP-binding.				RNA metabolic process	cytoplasm|nucleolus	ATP binding|ATP-dependent RNA helicase activity|RNA binding|protein binding			cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23		all_cancers(154;0.12)		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)		GGATGGCAAAGGCAAGAGTTT	0.423000														66			8		4.68919e-08	5.46558e-08	1	1	0
LRP1B	53353	broad.mit.edu	37	2	141707849	141707849	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:141707849A>G	uc002tvj.1	-	19	4063	c.3091T>C	c.(3091-3093)Tgt>Cgt	p.C1031R	LRP1B_uc010fnl.1_Missense_Mutation_p.C213R	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	1031	LDL-receptor class A 7.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.D1030E(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AAGTCCCCACAGTCATTGTCA	0.398000										TSP Lung(27;0.18)				22			11		0	0	1	0	0
MYO1C	4641	broad.mit.edu	37	17	1380798	1380798	+	Splice_Site	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:1380798C>T	uc002fsp.3	-	14	1794	c.1574_splice	c.e14+1	p.T525_splice	MYO1C_uc002fsn.3_Splice_Site_p.T506_splice|MYO1C_uc002fso.3_Splice_Site_p.T490_splice|MYO1C_uc010vqj.1_Splice_Site_p.T490_splice|MYO1C_uc010vqk.1_Splice_Site_p.T501_splice	NM_001080779	NP_203693	O00159	MYO1C_HUMAN	Homo sapiens myosin IC (MYO1C), transcript variant 1, mRNA.	525	Myosin head-like.				mRNA transport|protein transport|transmembrane transport	basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GCCCCACTCACGTCAGGAAGT	0.637000														22			8		0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34083159	34083159	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:34083159G>A	uc001bxm.1	-	37	6063	c.5886C>T	c.(5884-5886)ggC>ggT	p.G1962G	CSMD2_uc001bxn.1_Silent_p.G1922G|CSMD2_uc001bxo.1_Silent_p.G835G	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	1922	Sushi 11.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				AGTAGCGCTCGCCAGTCTTCA	0.572000														23			11		0	0	1	0	0
ABCA12	26154	broad.mit.edu	37	2	215876285	215876285	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:215876285T>G	uc002vew.3	-	16	2430	c.2210A>C	c.(2209-2211)gAa>gCa	p.E737A	ABCA12_uc002vev.3_Missense_Mutation_p.E419A|ABCA12_uc010zjn.2_5'UTR	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA.	737					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		AGTTAAATATTCAGTGGTAAT	0.403000														64			43		0	0	1	0	0
SIX4	51804	broad.mit.edu	37	14	61186556	61186556	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:61186556C>T	uc001xfc.3	-	1	1531	c.1471G>A	c.(1471-1473)Gca>Aca	p.A491T	SIX4_uc010app.1_Missense_Mutation_p.A483T	NM_017420	NP_059116	Q9UIU6	SIX4_HUMAN	Homo sapiens SIX homeobox 4 (SIX4), mRNA.	491						nucleus				breast(5)|endometrium(1)|large_intestine(11)|liver(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28				OV - Ovarian serous cystadenocarcinoma(108;0.0275)		TGGCTGTTTGCTCCGGAATTG	0.483000														101			7		0	0	1	0	0
WDSUB1	151525	broad.mit.edu	37	2	160136380	160136380	+	Missense_Mutation	SNP	A	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:160136380A>T	uc002uaj.4	-	2	624	c.475T>A	c.(475-477)Tca>Aca	p.S159T	WDSUB1_uc002uak.4_Missense_Mutation_p.S159T|WDSUB1_uc002ual.4_Missense_Mutation_p.S159T|WDSUB1_uc010foo.3_Missense_Mutation_p.S159T	NM_152528	NP_689741	Q8N9V3	WSDU1_HUMAN	Homo sapiens WD repeat, sterile alpha motif and U-box domain containing 1 (WDSUB1), transcript variant 3, mRNA.	159						ubiquitin ligase complex	ubiquitin-protein ligase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|prostate(1)|stomach(3)	16						TCACCACATGAGGAGCCAGTG	0.428000														37			5		0	0	1	0	0
MR1	3140	broad.mit.edu	37	1	181018422	181018422	+	Missense_Mutation	SNP	G	A	A	rs145064363		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:181018422G>A	uc001goq.2	+	2	463	c.302G>A	c.(301-303)cGc>cAc	p.R101H	MR1_uc001gor.2_Missense_Mutation_p.R101H|MR1_uc001gos.2_Missense_Mutation_p.R101H|MR1_uc010pns.2_Missense_Mutation_p.R101H|MR1_uc001gop.3_Missense_Mutation_p.R101H	NM_001531	NP_001522	Q95460	HMR1_HUMAN	Homo sapiens major histocompatibility complex, class I-related (MR1), transcript variant 1, mRNA.	101	Alpha-1.|Ligand-binding.				antigen processing and presentation of peptide antigen via MHC class I|immune response	MHC class I protein complex|endoplasmic reticulum|extracellular region|integral to membrane	MHC class I receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	18						GAACTGAAGCGCCTACAGAGG	0.617000														13			12		0	0	1	0	0
ALKBH4	54784	broad.mit.edu	37	7	102098304	102098304	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:102098304C>T	uc003uzl.3	-	2	484	c.446G>A	c.(445-447)cGg>cAg	p.R149Q	ALKBH4_uc003uzm.3_Missense_Mutation_p.R76Q	NM_017621	NP_060091	Q9NXW9	ALKB4_HUMAN	Homo sapiens alkB, alkylation repair homolog 4 (E. coli) (ALKBH4), mRNA.	149						cytoplasm|nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			kidney(1)|lung(5)|skin(2)	8						CTCGACGGGCCGGAAGCCCTC	0.692000														19			25		0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36896952	36896952	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:36896952G>A	uc003cgj.3	-	11	4377	c.4129C>T	c.(4129-4131)Ctg>Ttg	p.L1377L		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	1377					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						AGCTTCGACAGCCTCCGGGAT	0.502000														90			51		0	0	1	0	0
MRPL24	79590	broad.mit.edu	37	1	156708198	156708198	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:156708198C>T	uc001fpw.1	-	2	355	c.216G>A	c.(214-216)aaG>aaA	p.K72K	MRPL24_uc001fpx.1_Silent_p.K72K	NM_024540	NP_663781	Q96A35	RM24_HUMAN	Homo sapiens mitochondrial ribosomal protein L24 (MRPL24), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	72	KOW.				translation	mitochondrion|ribosome	structural constituent of ribosome	p.G71W(1)		endometrium(1)|large_intestine(1)|lung(4)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CTTTGCCCTGCTTCCCGGCAT	0.577000														122			89		0	0	1	0	0
CYP26B1	56603	broad.mit.edu	37	2	72359652	72359652	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:72359652C>T	uc002sih.1	-	5	1243	c.1243G>A	c.(1243-1245)Gat>Aat	p.D415N	CYP26B1_uc010yra.1_Missense_Mutation_p.D398N|CYP26B1_uc010yrb.1_Missense_Mutation_p.D340N	NM_019885	NP_063938	Q9NR63	CP26B_HUMAN	Homo sapiens cytochrome P450, family 26, subfamily B, polypeptide 1 (CYP26B1), mRNA.	415					cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						CTGAAGCGATCGGGGTCGAAC	0.617000														20			12		0	0	1	0	0
ZBTB7C	201501	broad.mit.edu	37	18	45566387	45566387	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:45566387C>T	uc010dnv.3	-	2	1594	c.1158G>A	c.(1156-1158)caG>caA	p.Q386Q	ZBTB7C_uc002ldb.3_Silent_p.Q364Q|ZBTB7C_uc010dnu.3_Silent_p.Q373Q|ZBTB7C_uc010dnw.3_Silent_p.Q364Q|ZBTB7C_uc010dnx.1_Silent_p.Q364Q|ZBTB7C_uc010dny.1_Silent_p.Q364Q|ZBTB7C_uc010dnz.1_Silent_p.Q386Q|ZBTB7C_uc010doi.1_Silent_p.Q364Q|ZBTB7C_uc010doj.1_Silent_p.Q373Q|ZBTB7C_uc010dok.1_Silent_p.Q413Q|ZBTB7C_uc010dol.1_Silent_p.Q373Q|ZBTB7C_uc010doa.1_Silent_p.Q386Q|ZBTB7C_uc010dob.1_Silent_p.Q364Q|ZBTB7C_uc010doc.1_Silent_p.Q373Q|ZBTB7C_uc010dod.1_Silent_p.Q386Q|ZBTB7C_uc010doe.1_Silent_p.Q364Q|ZBTB7C_uc010dof.1_Silent_p.Q364Q|ZBTB7C_uc010dog.1_Silent_p.Q364Q|ZBTB7C_uc010doh.1_Silent_p.Q373Q|ZBTB7C_uc010dom.1_Silent_p.Q373Q|ZBTB7C_uc010don.1_Silent_p.Q372Q|ZBTB7C_uc010dop.1_Silent_p.Q364Q|ZBTB7C_uc010doq.1_Silent_p.Q373Q|ZBTB7C_uc010dor.1_Silent_p.Q386Q|ZBTB7C_uc010dos.1_Silent_p.Q364Q|ZBTB7C_uc010dot.1_Silent_p.Q364Q|ZBTB7C_uc010doo.1_Silent_p.Q364Q|ZBTB7C_uc010dou.1_Silent_p.Q373Q	NM_001039360	NP_001034449	A1YPR0	ZBT7C_HUMAN	Homo sapiens zinc finger and BTB domain containing 7C (ZBTB7C), mRNA.	364						intracellular	nucleic acid binding|zinc ion binding			endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						TGGGGCACTGCTGAGAGGCCT	0.622000														61			29		0	0	1	0	0
MAGEB18	286514	broad.mit.edu	37	X	26158034	26158034	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:26158034A>G	uc022bub.1	+	0	932	c.932A>G	c.(931-933)gAa>gGa	p.E311G	MAGEB18_uc004dbq.2_Missense_Mutation_p.E311G	NM_173699	NP_775970	Q96M61	MAGBI_HUMAN	Homo sapiens melanoma antigen family B, 18 (MAGEB18), mRNA.	311							protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2)	33						AGGGATGAGGAACAGAGAACC	0.512000														13			4		0	0	1	0	0
C10orf76	79591	broad.mit.edu	37	10	103753315	103753315	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:103753315G>A	uc009xwy.1	-	16	1357	c.1255C>T	c.(1255-1257)Cga>Tga	p.R419*	C10orf76_uc009xwx.1_5'Flank	NM_024541	NP_078817	Q5T2E6	CJ076_HUMAN	Homo sapiens chromosome 10 open reading frame 76 (C10orf76), mRNA.	419						integral to membrane				autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|upper_aerodigestive_tract(2)	24		Colorectal(252;0.123)		Epithelial(162;2.41e-08)|all cancers(201;6.41e-07)		AAGTTTACTCGAAAATTCATG	0.313000														40			24		0	0	1	0	0
IFT52	51098	broad.mit.edu	37	20	42232516	42232516	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:42232516C>T	uc002xkw.3	+	3	446	c.324C>T	c.(322-324)atC>atT	p.I108I	IFT52_uc010zwi.1_Intron|IFT52_uc002xkx.3_Non-coding_Transcript|IFT52_uc002xkz.3_Silent_p.I108I	NM_016004	NP_057088	Q9Y366	IFT52_HUMAN	Homo sapiens intraflagellar transport 52 homolog (Chlamydomonas) (IFT52), mRNA.	108						intraflagellar transport particle B|microtubule-based flagellum	protein C-terminus binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			AATATGGAATCATGGTTAATA	0.343000														30			18		0	0	1	0	0
BAIAP2L2	80115	broad.mit.edu	37	22	38493048	38493048	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:38493048G>T	uc003auw.3	-	6	747	c.603C>A	c.(601-603)ttC>ttA	p.F201L		NM_025045	NP_079321	Q6UXY1	BI2L2_HUMAN	Homo sapiens BAI1-associated protein 2-like 2 (BAIAP2L2), mRNA.	201	IMD.				filopodium assembly|signal transduction		SH3 domain binding|cytoskeletal adaptor activity			large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	8	Melanoma(58;0.045)					CCCGGCCGAAGAACTGCAGGA	0.602000														12			5		0.014758	0.0151755	1	1	0
SLC6A18	348932	broad.mit.edu	37	5	1235772	1235772	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:1235772G>T	uc003jby.2	+	3	739	c.616G>T	c.(616-618)Ggg>Tgg	p.G206W		NM_182632	NP_872438	Q96N87	S6A18_HUMAN	Homo sapiens solute carrier family 6, member 18 (SLC6A18), mRNA.	206					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			TGAGACTACAGGGAAGGTGAG	0.572000														57			27		5.61819e-17	7.14049e-17	1	1	0
ZDHHC3	51304	broad.mit.edu	37	3	45000730	45000730	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:45000730G>A	uc003cod.3	-	1	473	c.199C>T	c.(199-201)Ctg>Ttg	p.L67L	ZDHHC3_uc003cog.3_Silent_p.L67L	NM_016598	NP_057682	Q9NYG2	ZDHC3_HUMAN	Homo sapiens zinc finger, DHHC-type containing 3 (ZDHHC3), transcript variant 2, mRNA.	67						Golgi membrane|integral to membrane	zinc ion binding			endometrium(1)|large_intestine(3)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(193;0.00943)|KIRC - Kidney renal clear cell carcinoma(197;0.053)|Kidney(197;0.0665)		GATGGAATCAGCATGACAAAG	0.552000														78			10		0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32063391	32063391	+	Nonsense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:32063391C>A	uc003nzl.2	-	2	2441	c.2239G>T	c.(2239-2241)Gaa>Taa	p.E747*		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	747					actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TGCTCACCTTCTCCGCAGTCT	0.597000														34			14		1.37285e-15	1.73089e-15	1	1	0
LEMD3	23592	broad.mit.edu	37	12	65564502	65564502	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:65564502G>T	uc001ssl.2	+	0	1152	c.1126G>T	c.(1126-1128)Gac>Tac	p.D376Y	LEMD3_uc009zqo.2_Missense_Mutation_p.D376Y	NM_014319	NP_055134	Q9Y2U8	MAN1_HUMAN	Homo sapiens LEM domain containing 3 (LEMD3), transcript variant 1, mRNA.	376					negative regulation of BMP signaling pathway|negative regulation of activin receptor signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway	integral to nuclear inner membrane|membrane fraction	DNA binding|nucleotide binding|protein binding			breast(1)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	36			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0104)		TACTGACATGGACTCAACCTT	0.527000														32			15		6.72482e-11	8.1643e-11	1	1	0
GPR98	84059	broad.mit.edu	37	5	89953850	89953850	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:89953850G>A	uc003kju.3	+	20	4603	c.4507G>A	c.(4507-4509)Gca>Aca	p.A1503T	GPR98_uc003kjt.3_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	1503					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding	p.P1502L(1)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TGCCATGCCCGCAAAAAGTGA	0.408000														61			37		0	0	1	0	0
CELF5	60680	broad.mit.edu	37	19	3282219	3282219	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:3282219C>T	uc002lxm.3	+	6	883	c.846C>T	c.(844-846)gcC>gcT	p.A282A	CELF5_uc010dtj.2_Silent_p.A282A|CELF5_uc002lxl.2_Silent_p.A282A|CELF5_uc010xhg.2_Non-coding_Transcript|CELF5_uc002lxn.3_Non-coding_Transcript	NM_021938	NP_068757	Q8N6W0	CELF5_HUMAN	Homo sapiens CUGBP, Elav-like family member 5 (CELF5), transcript variant 1, mRNA.	282					mRNA processing	cytoplasm|nucleus	RNA binding|nucleotide binding			kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)	13						AGATAGGCGCCGTCAGCCTCA	0.647000														30			22		0	0	1	0	0
B4GALT4	8702	broad.mit.edu	37	3	118935107	118935107	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:118935107G>A	uc003ecg.3	-	6	1523	c.882C>T	c.(880-882)ggC>ggT	p.G294G	B4GALT4_uc003ece.1_Silent_p.G294G|B4GALT4_uc003ech.3_Silent_p.G294G|B4GALT4_uc003eci.3_Silent_p.G294G|B4GALT4_uc011biy.1_Non-coding_Transcript	NM_212543	NP_997708	O60513	B4GT4_HUMAN	Homo sapiens UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 4 (B4GALT4), transcript variant 1, mRNA.	294					membrane lipid metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	N-acetyllactosamine synthase activity|metal ion binding			breast(2)|endometrium(1)|large_intestine(1)|lung(6)|skin(2)|stomach(2)	14				GBM - Glioblastoma multiforme(114;0.222)	N-Acetyl-D-glucosamine(DB00141)	TCACCTCATTGCCTTTGTCTC	0.453000														31			11		0	0	1	0	0
SYTL1	84958	broad.mit.edu	37	1	27674031	27674031	+	Missense_Mutation	SNP	C	T	T	rs150662670		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:27674031C>T	uc001bnw.2	+	2	508	c.311C>T	c.(310-312)gCg>gTg	p.A104V	SYTL1_uc001bnv.2_Missense_Mutation_p.A104V|SYTL1_uc001bnx.2_Missense_Mutation_p.A104V|SYTL1_uc009vsv.2_Missense_Mutation_p.A104V	NM_001193308	NP_001180237	Q8IYJ3	SYTL1_HUMAN	Homo sapiens synaptotagmin-like 1 (SYTL1), transcript variant 1, mRNA.	104					exocytosis|intracellular protein transport	extrinsic to plasma membrane|melanosome|soluble fraction	Rab GTPase binding|neurexin binding			NS(1)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	12		Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0908)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.0013)|KIRC - Kidney renal clear cell carcinoma(1967;0.00158)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		CTTGTCCGAGCGTCTATGCGC	0.632000														30			23		0	0	1	0	0
MYH7	4625	broad.mit.edu	37	14	23884263	23884263	+	Missense_Mutation	SNP	C	T	T	rs143362532		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:23884263C>T	uc001wjx.3	-	36	5606	c.5500G>A	c.(5500-5502)Gca>Aca	p.A1834T		NM_000257	NP_000248	P12883	MYH7_HUMAN	Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA.	1834					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		ACCGACTCTGCGTTGCGCTTC	0.647000														90			34		0	0	1	0	0
NOS3	4846	broad.mit.edu	37	7	150710953	150710953	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:150710953A>G	uc003wif.3	+	25	3693	c.3397A>G	c.(3397-3399)Acg>Gcg	p.T1133A	NOS3_uc011kuy.2_Missense_Mutation_p.T927A|ATG9B_uc003wig.4_Non-coding_Transcript|ATG9B_uc011kvc.2_3'UTR	NM_000603	NP_000594	P29474	NOS3_HUMAN	Homo sapiens nitric oxide synthase 3 (endothelial cell) (NOS3), transcript variant 1, mRNA.	1133					anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	Golgi membrane|caveola|cytoskeleton|cytosol	FMN binding|NADP binding|actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	CATCCTGGCGACGGAGGGCGA	0.697000														5			3		0	0	1	0	0
SRGAP2	23380	broad.mit.edu	37	1	206626618	206626618	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:206626618A>C	uc001hdy.3	+	16	1992	c.1991A>C	c.(1990-1992)aAg>aCg	p.K664T	SRGAP2_uc010prt.1_Missense_Mutation_p.K587T|SRGAP2_uc001hdx.3_Missense_Mutation_p.K664T|SRGAP2_uc010pru.2_Missense_Mutation_p.K663T|SRGAP2_uc010prv.1_Missense_Mutation_p.K588T	NM_015326	NP_056141	O75044	FNBP2_HUMAN	Homo sapiens SLIT-ROBO Rho GTPase activating protein 2 (SRGAP2), transcript variant 1, mRNA.	751	Rho-GAP.				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			NS(1)|breast(1)|kidney(1)|lung(1)	4	Breast(84;0.137)					TCCTTTAAGAAGGGAGCATCC	0.567000														9			9		0	0	1	0	0
MEGF9	1955	broad.mit.edu	37	9	123370192	123370192	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:123370192C>T	uc004bkj.2	-	6	1448	c.1295G>A	c.(1294-1296)aGc>aAc	p.S432N	MEGF9_uc022bms.1_Missense_Mutation_p.S395N	NM_001080497	NP_001073966	Q9H1U4	MEGF9_HUMAN	Homo sapiens multiple EGF-like-domains 9 (MEGF9), mRNA.	395	Laminin EGF-like 5.					integral to membrane	calcium ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	16						TCTACAGATGCTGTCAAAATT	0.428000														97			50		0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228402555	228402555	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:228402555C>T	uc009xez.1	+	4	1628	c.1584C>T	c.(1582-1584)tcC>tcT	p.S528S	OBSCN_uc001hsn.3_Silent_p.S528S|AK056556_uc001hsm.1_5'Flank	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	528	Fibronectin type-III 1.				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	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase 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)				TGGAGAGTTCCGTGATTCTCA	0.592000														19			6		0	0	1	0	0
NIPA1	123606	broad.mit.edu	37	15	23049092	23049092	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:23049092C>T	uc001yvc.3	-	4	752	c.727G>A	c.(727-729)Gtc>Atc	p.V243I	NIPA1_uc001yvd.3_Missense_Mutation_p.V73I|NIPA1_uc001yve.3_Missense_Mutation_p.V168I	NM_144599	NP_001135747	Q7RTP0	NIPA1_HUMAN	Homo sapiens non imprinted in Prader-Willi/Angelman syndrome 1 (NIPA1), transcript variant 1, mRNA.	243					cell death	early endosome|integral to membrane|plasma membrane				endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|skin(1)	15		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;4.18e-06)|Epithelial(43;3.97e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00165)		CTGAACTGGACGATGATGCTG	0.607000														26			14		0	0	1	0	0
C3	718	broad.mit.edu	37	19	6718263	6718263	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:6718263G>A	uc002mfm.3	-	2	490	c.428C>T	c.(427-429)tCc>tTc	p.S143F		NM_000064	NP_000055	P01024	CO3_HUMAN	Homo sapiens complement component 3 (C3), mRNA.	143					G-protein coupled receptor protein signaling pathway|complement activation, alternative pathway|complement activation, classical pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding	p.G142R(1)		breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		CTCACCTGTGGAGCCAGGGGT	0.642000														19			5		0	0	1	0	0
RCVRN	5957	broad.mit.edu	37	17	9801418	9801418	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:9801418G>A	uc002gme.1	-	2	784	c.597C>T	c.(595-597)aaC>aaT	p.N199N		NM_002903	NP_002894	P35243	RECO_HUMAN	Homo sapiens recoverin (RCVRN), mRNA.	199					visual perception		calcium ion binding|calcium sensitive guanylate cyclase activator activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	12						GGCATCAGGCGTTCTTCATCT	0.507000														89			63		0	0	1	0	0
UBA6	55236	broad.mit.edu	37	4	68543398	68543398	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:68543398G>A	uc003hdg.4	-	5	448	c.396C>T	c.(394-396)taC>taT	p.Y132Y	UBA6_uc003hdi.3_Silent_p.Y132Y|UBA6_uc003hdj.2_Silent_p.Y132Y	NM_018227	NP_060697	A0AVT1	UBA6_HUMAN	Homo sapiens ubiquitin-like modifier activating enzyme 6 (UBA6), mRNA.	132					protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding	p.Y132*(2)		central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						TGACATGAACGTATGGATTTA	0.294000														43			35		0	0	1	0	0
CCT2	10576	broad.mit.edu	37	12	69991024	69991024	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:69991024C>T	uc001svb.1	+	10	1165	c.1071C>T	c.(1069-1071)gaC>gaT	p.D357D	CCT2_uc010stl.1_Silent_p.D310D	NM_006431	NP_001185771	P78371	TCPB_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 2 (beta) (CCT2), transcript variant 1, mRNA.	357					'de novo' posttranslational protein folding	nucleus	ATP binding|unfolded protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(1)	24	all_cancers(2;7.7e-106)|Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.72e-18)|GBM - Glioblastoma multiforme(2;2.58e-10)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			TTGGAGAAGACAAACTCATTC	0.413000														115			63		0	0	1	0	0
MTR	4548	broad.mit.edu	37	1	237023145	237023145	+	Nonsense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:237023145G>T	uc001hyi.4	+	18	2389	c.1966G>T	c.(1966-1968)Gga>Tga	p.G656*	MTR_uc010pxw.2_Nonsense_Mutation_p.G249*|MTR_uc010pxx.2_Nonsense_Mutation_p.G656*|MTR_uc010pxy.2_Nonsense_Mutation_p.G510*	NM_000254	NP_000245	Q99707	METH_HUMAN	Homo sapiens 5-methyltetrahydrofolate-homocysteine methyltransferase (MTR), mRNA.	656					nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding	p.G656*(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	TCAAGGCACAGGAGGGAAGAA	0.423000														38			22		5.35356e-11	6.51008e-11	1	1	0
COPS4	51138	broad.mit.edu	37	4	83984281	83984281	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:83984281G>A	uc003hoa.3	+	6	907	c.768G>A	c.(766-768)caG>caA	p.Q256Q	COPS4_uc010ijx.3_Silent_p.Q256Q	NM_016129	NP_057213	Q9BT78	CSN4_HUMAN	Homo sapiens COP9 constitutive photomorphogenic homolog subunit 4 (Arabidopsis) (COPS4), mRNA.	256	PCI.				cullin deneddylation	cytoplasm|signalosome	protein binding			endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(2)	13		Hepatocellular(203;0.114)				AAAGGTGCCAGCAACTTGCTG	0.403000														54			32		0	0	1	0	0
GON4L	54856	broad.mit.edu	37	1	155740923	155740923	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155740923C>T	uc001flz.2	-	18	2678	c.2581G>A	c.(2581-2583)Gcc>Acc	p.A861T	GON4L_uc021paz.1_Intron|GON4L_uc001fly.1_Missense_Mutation_p.A861T|GON4L_uc009wrh.1_Missense_Mutation_p.A861T|GON4L_uc001fma.1_Missense_Mutation_p.A861T|GON4L_uc001fmb.4_Missense_Mutation_p.A57T|GON4L_uc001fmc.3_Missense_Mutation_p.A861T|GON4L_uc001fmd.4_Missense_Mutation_p.A861T|GON4L_uc009wri.3_Missense_Mutation_p.A447T	NM_001037533	NP_001032622	Q3T8J9	GON4L_HUMAN	Homo sapiens gon-4-like (C. elegans) (GON4L), transcript variant 1, mRNA.	861					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					AGTTGGTGGGCAGTTTTGCAG	0.443000														71			37		0	0	1	0	0
CNOT1	23019	broad.mit.edu	37	16	58621775	58621775	+	Missense_Mutation	SNP	A	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:58621775A>T	uc002env.3	-	3	511	c.218T>A	c.(217-219)tTt>tAt	p.F73Y	CNOT1_uc002enw.3_Non-coding_Transcript|CNOT1_uc002enu.4_Missense_Mutation_p.F73Y|CNOT1_uc002enx.3_Missense_Mutation_p.F73Y|CNOT1_uc002enz.1_5'UTR	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 1 (CNOT1), transcript variant 1, mRNA.	73					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		CTGAATCAGAAACTGAGTCTT	0.348000														35			30		0	0	1	0	0
NR0B1	190	broad.mit.edu	37	X	30327013	30327013	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:30327013C>A	uc004dcf.4	-	0	483	c.468G>T	c.(466-468)acG>acT	p.T156T		NM_000475	NP_000466	P51843	NR0B1_HUMAN	Homo sapiens nuclear receptor subfamily 0, group B, member 1 (NR0B1), mRNA.	156	4 X 67 AA tandem repeats.				adrenal gland development|hypothalamus development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of steroid hormone receptor signaling pathway|pituitary gland development|protein localization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid biosynthetic process	cytoplasm|membrane fraction|nucleoplasm|nucleus|polysomal ribosome	AF-2 domain binding|DNA hairpin binding|RNA binding|ligand-regulated transcription factor activity|protein domain specific binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|steroid hormone receptor binding|transcription corepressor activity|transcription factor binding			central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	24					Dexamethasone(DB01234)|Tretinoin(DB00755)	GAGCCACGTGCGTTTGCTTTG	0.677000											OREG0019719	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		17			10		1.08611e-07	1.25606e-07	1	1	0
POU2F3	25833	broad.mit.edu	37	11	120175896	120175896	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:120175896G>T	uc021qrk.1	+	6	642	c.608G>T	c.(607-609)aGg>aTg	p.R203M	POU2F3_uc001pxc.3_Missense_Mutation_p.R201M|POU2F3_uc010rzk.2_Missense_Mutation_p.R155M|POU2F3_uc010rzl.2_Missense_Mutation_p.R131M|POU2F3_uc001pxe.1_5'Flank	NM_001244682	NP_001231611	Q9UKI9	PO2F3_HUMAN	Homo sapiens POU class 2 homeobox 3 (POU2F3), transcript variant 2, mRNA.	201	POU-specific.				negative regulation by host of viral transcription	cytoplasm	sequence-specific DNA binding			large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)	17		Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;6.85e-06)		TTCAAGCAGAGGCGCATTAAG	0.557000														79			7		5.18039e-06	5.80246e-06	1	1	0
RBPJL	11317	broad.mit.edu	37	20	43944893	43944893	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:43944893G>A	uc002xns.3	+	9	1159	c.1087G>A	c.(1087-1089)Ggc>Agc	p.G363S	RBPJL_uc002xnt.3_Missense_Mutation_p.G363S	NM_014276	NP_055091	Q9UBG7	RBPJL_HUMAN	Homo sapiens recombination signal binding protein for immunoglobulin kappa J region-like (RBPJL), mRNA.	363					signal transduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Myeloproliferative disorder(115;0.0122)				GACCATCATCGGCACCGAGTC	0.632000														50			24		0	0	1	0	0
ZNF770	54989	broad.mit.edu	37	15	35275397	35275397	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:35275397G>T	uc001ziw.3	-	2	593	c.239C>A	c.(238-240)cCt>cAt	p.P80H	ZNF770_uc021siy.1_Missense_Mutation_p.P80H	NM_014106	NP_054825	Q6IQ21	ZN770_HUMAN	Homo sapiens zinc finger protein 770 (ZNF770), mRNA.	80					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)		ACATTTAAAAGGCAGACTATG	0.353000														60			25		9.86323e-18	1.25926e-17	1	1	0
ESRRG	2104	broad.mit.edu	37	1	216692559	216692559	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:216692559T>C	uc001hkw.2	-	5	1240	c.1067A>G	c.(1066-1068)tAc>tGc	p.Y356C	ESRRG_uc009xdp.1_Missense_Mutation_p.Y333C|ESRRG_uc001hky.1_Missense_Mutation_p.Y333C|ESRRG_uc001hkz.2_Missense_Mutation_p.Y294C|ESRRG_uc010puc.2_Missense_Mutation_p.Y333C|ESRRG_uc001hla.2_Missense_Mutation_p.Y333C|ESRRG_uc001hlb.2_Missense_Mutation_p.Y333C|ESRRG_uc010pud.2_Missense_Mutation_p.Y171C|ESRRG_uc021pja.1_Missense_Mutation_p.Y105C|ESRRG_uc001hlc.1_Missense_Mutation_p.Y333C|ESRRG_uc001hld.1_Missense_Mutation_p.Y333C|ESRRG_uc001hkx.2_Missense_Mutation_p.Y368C|ESRRG_uc009xdo.2_Missense_Mutation_p.Y333C|ESRRG_uc001hle.2_Missense_Mutation_p.Y333C|ESRRG_uc021piz.1_Missense_Mutation_p.Y333C	NM_001438	NP_001230435	P62508	ERR3_HUMAN	Homo sapiens estrogen-related receptor gamma (ESRRG), transcript variant 1, mRNA.	356					positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	CATGCTCTTGTATTTCTTTAC	0.378000														48			24		0	0	1	0	0
PARM1	25849	broad.mit.edu	37	4	75938264	75938264	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:75938264G>A	uc003hih.2	+	1	926	c.673G>A	c.(673-675)Gtg>Atg	p.V225M		NM_015393	NP_056208	Q6UWI2	PARM1_HUMAN	Homo sapiens prostate androgen-regulated mucin-like protein 1 (PARM1), mRNA.	225					positive regulation of telomerase activity	Golgi membrane|early endosome|endosome membrane|integral to membrane|late endosome|plasma membrane				cervix(1)|endometrium(2)|lung(4)|ovary(1)	8						CCCAACAACTGTGTCAGGCAA	0.532000														45			6		0	0	1	0	0
RTTN	25914	broad.mit.edu	37	18	67812937	67812937	+	Missense_Mutation	SNP	C	T	T	rs143585515	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:67812937C>T	uc002lkp.2	-	17	2460	c.2392G>A	c.(2392-2394)Gcc>Acc	p.A798T	RTTN_uc002lko.2_Non-coding_Transcript|RTTN_uc010xfb.1_5'UTR	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN	Homo sapiens rotatin (RTTN), mRNA.	798							binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				AGAACTCTGGCGTCTATTAGA	0.418000														52			32		0	0	1	0	0
ERCC8	1161	broad.mit.edu	37	5	60240905	60240905	+	Splice_Site	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:60240905C>T	uc003jsm.3	-	1	1	c.-69_splice	c.e1-1		NDUFAF2_uc003jsp.4_5'Flank|NDUFAF2_uc003jso.4_5'Flank|ERCC8_uc003jsl.3_Splice_Site|ERCC8_uc011cqp.1_Splice_Site|ERCC8_uc003jsn.3_Splice_Site	NM_000082	NP_000073	Q13216	ERCC8_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 8 (ERCC8), transcript variant 1, mRNA.						positive regulation of DNA repair|proteasomal ubiquitin-dependent protein catabolic process|protein autoubiquitination|protein polyubiquitination|response to UV|response to oxidative stress|transcription-coupled nucleotide-excision repair	Cul4A-RING ubiquitin ligase complex|nuclear matrix|nucleoplasm|nucleotide-excision repair complex|soluble fraction	protein binding|protein complex binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	14		Lung NSC(810;1.51e-06)|Prostate(74;0.0322)|Ovarian(174;0.0481)|Breast(144;0.077)				ACTGGAACAGCAGAGTCTCCC	0.607000														11			10		0	0	1	0	0
NPR2	4882	broad.mit.edu	37	9	35807348	35807348	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:35807348C>A	uc003zyd.3	+	17	2665	c.2665C>A	c.(2665-2667)Ctg>Atg	p.L889M	NPR2_uc010mlb.3_Missense_Mutation_p.L865M	NM_003995	NP_003986	P20594	ANPRB_HUMAN	Homo sapiens natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B) (NPR2), mRNA.	889	Guanylate cyclase.				intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure	integral to membrane|plasma membrane	GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	TCTTAATGACCTGTATACCTG	0.428000														126			58		3.30712e-30	4.36321e-30	1	1	0
WDR24	84219	broad.mit.edu	37	16	737585	737585	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:737585G>A	uc002ciz.1	-	1	1396	c.636C>T	c.(634-636)tgC>tgT	p.C212C		NM_032259	NP_115635	Q96S15	WDR24_HUMAN	Homo sapiens WD repeat domain 24 (WDR24), mRNA.	298										breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(3)	19		Hepatocellular(780;0.0218)				GCCAGTCGCAGCAGAAGACGG	0.617000														13			14		0	0	1	0	0
KIAA1919	91749	broad.mit.edu	37	6	111587087	111587087	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:111587087G>A	uc003puv.4	+	3	744	c.322G>A	c.(322-324)Gtc>Atc	p.V108I		NM_153369	NP_699200	Q5TF39	NAGT1_HUMAN	Homo sapiens KIAA1919 (KIAA1919), mRNA.	108					carbohydrate transport|sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			large_intestine(3)|lung(2)|ovary(4)|skin(3)	12		all_cancers(87;2.35e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.055)|all cancers(137;0.0871)|Epithelial(106;0.0884)		AGGTGGTAACGTCCTTATCTT	0.408000														36			18		0	0	1	0	0
OSBP2	23762	broad.mit.edu	37	22	31286763	31286763	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:31286763C>A	uc003aiy.1	+	7	1776	c.1672C>A	c.(1672-1674)Ctg>Atg	p.L558M	OSBP2_uc011ala.1_Missense_Mutation_p.L392M|OSBP2_uc010gwc.1_Missense_Mutation_p.L385M|OSBP2_uc011alb.1_Missense_Mutation_p.L509M|OSBP2_uc003aiz.1_Missense_Mutation_p.L557M|OSBP2_uc003aja.1_Missense_Mutation_p.L191M|OSBP2_uc011alc.2_Missense_Mutation_p.L300M|OSBP2_uc011ald.1_Missense_Mutation_p.L102M|OSBP2_uc010gwd.1_Missense_Mutation_p.L103M	NM_030758	NP_110385	Q969R2	OSBP2_HUMAN	Homo sapiens oxysterol binding protein 2 (OSBP2), transcript variant 1, mRNA.	558					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						GACAGAGGACCTGGAGTACCA	0.627000											OREG0026467	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		20			9		0.307466	0.308579	1	1	0
MPP7	143098	broad.mit.edu	37	10	28348654	28348654	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:28348654C>A	uc001iua.1	-	15	1627	c.1223G>T	c.(1222-1224)aGa>aTa	p.R408I	MPP7_uc009xkz.1_Non-coding_Transcript|MPP7_uc001iub.1_Missense_Mutation_p.R408I|MPP7_uc009xla.2_Missense_Mutation_p.R408I|MPP7_uc010qdv.1_Non-coding_Transcript	NM_173496	NP_775767	Q5T2T1	MPP7_HUMAN	Homo sapiens membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7) (MPP7), mRNA.	408	Guanylate kinase-like.				establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity	p.R408I(2)		autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						CTCCTGGCTTCTTCTTGCTCT	0.338000														59			6		0.000157383	0.000170012	1	1	0
CD36	948	broad.mit.edu	37	7	80292424	80292424	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:80292424G>A	uc003uhc.3	+	8	1232	c.548G>A	c.(547-549)aGg>aAg	p.R183K	CD36_uc011kgv.2_Missense_Mutation_p.R107K|CD36_uc003uhd.4_Missense_Mutation_p.R183K|CD36_uc003uhe.4_Missense_Mutation_p.R183K|CD36_uc003uhf.4_Missense_Mutation_p.R183K|CD36_uc003uhg.4_Missense_Mutation_p.R183K|CD36_uc003uhh.4_Missense_Mutation_p.R183K|CD36_uc022agu.1_Missense_Mutation_p.R183K|CD36_uc022agv.1_Intron	NM_001127444	NP_001120916	P16671	CD36_HUMAN	Homo sapiens CD36 molecule (thrombospondin receptor) (CD36), transcript variant 5, mRNA.	183					cGMP-mediated signaling|cell adhesion|cholesterol transport|lipid metabolic process|lipid storage|lipoprotein transport|low-density lipoprotein particle clearance|nitric oxide mediated signal transduction|plasma membrane long-chain fatty acid transport|platelet activation|platelet degranulation|positive regulation of cell-matrix adhesion|positive regulation of macrophage derived foam cell differentiation	integral to plasma membrane|membrane fraction|platelet alpha granule membrane	lipid binding|low-density lipoprotein receptor activity|thrombospondin receptor activity|transforming growth factor beta binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|large_intestine(1)|lung(6)|ovary(1)	21						TGGGGCTATAGGGATCCATTT	0.338000														112			35		0	0	1	0	0
BRF2	55290	broad.mit.edu	37	8	37704663	37704663	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:37704663A>G	uc003xkk.3	-	2	375	c.245T>C	c.(244-246)gTt>gCt	p.V82A		NM_018310	NP_060780	Q9HAW0	BRF2_HUMAN	Homo sapiens BRF2, subunit of RNA polymerase III transcription initiation factor, BRF1-like (BRF2), mRNA.	82					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter|transcription initiation, DNA-dependent	nucleoplasm	protein binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)	12		Lung NSC(58;0.118)|all_lung(54;0.195)	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;1.81e-10)			CAACTGCAGAACTCGACAAAG	0.532000														46			33		0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228399636	228399636	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:228399636C>T	uc009xez.1	+	1	196	c.152C>T	c.(151-153)gCg>gTg	p.A51V	OBSCN_uc001hsn.3_Missense_Mutation_p.A51V|AK056556_uc001hsm.1_Intron	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	51	Ig-like 1.		A -> T (in dbSNP:rs1771487).		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	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase 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)				CAGCCGGTGGCGGCCGGCGCG	0.692000														7			6		0	0	1	0	0
TYR	7299	broad.mit.edu	37	11	88911510	88911510	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:88911510A>C	uc001pcs.3	+	0	471	c.389A>C	c.(388-390)gAg>gCg	p.E130A		NM_000372	NP_000363	P14679	TYRO_HUMAN	Homo sapiens tyrosinase (oculocutaneous albinism IA) (TYR), mRNA.	130					eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)	AGTGCCCCAGAGAAGGACAAA	0.448000														105			40		0	0	1	0	0
KIF3B	9371	broad.mit.edu	37	20	30898940	30898940	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:30898940C>T	uc002wxq.3	+	1	1540	c.1360C>T	c.(1360-1362)Cgg>Tgg	p.R454W	KIF3B_uc010ztv.2_3'UTR|KIF3B_uc010ztw.2_Missense_Mutation_p.R392W	NM_004798	NP_004789	O15066	KIF3B_HUMAN	Homo sapiens kinesin family member 3B (KIF3B), mRNA.	454					anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis	centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule	ATP binding|Rho GTPase binding|plus-end-directed microtubule motor activity			NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GGAGGACCTGCGGCGGGAGAA	0.537000														6			4		0	0	1	0	0
XPR1	9213	broad.mit.edu	37	1	180804025	180804025	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:180804025G>T	uc001goi.3	+	9	1342	c.1150G>T	c.(1150-1152)Gcc>Tcc	p.A384S	XPR1_uc009wxm.2_Missense_Mutation_p.A384S|XPR1_uc009wxn.3_Missense_Mutation_p.A384S	NM_004736	NP_004727	Q9UBH6	XPR1_HUMAN	Homo sapiens xenotropic and polytropic retrovirus receptor 1 (XPR1), transcript variant 1, mRNA.	384						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						AGTATTTACAGCCCCCTTCCA	0.403000														61			15		4.14922e-12	5.1026e-12	1	1	0
ZC3H4	23211	broad.mit.edu	37	19	47572365	47572365	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:47572365G>A	uc002pga.4	-	13	2420	c.2382C>T	c.(2380-2382)gaC>gaT	p.D794D	ZC3H4_uc002pgb.1_Intron	NM_015168	NP_055983	Q9UPT8	ZC3H4_HUMAN	Homo sapiens zinc finger CCCH-type containing 4 (ZC3H4), mRNA.	794							nucleic acid binding|zinc ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		CATTCTCCCGGTCCTGCTTGC	0.687000														85			51		0	0	1	0	0
SGIP1	84251	broad.mit.edu	37	1	67185056	67185056	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:67185056C>T	uc001dcr.3	+	18	1927	c.1710C>T	c.(1708-1710)gtC>gtT	p.V570V	SGIP1_uc010opd.2_Silent_p.V170V|SGIP1_uc001dcs.3_Silent_p.V170V|SGIP1_uc001dct.3_Silent_p.V172V|SGIP1_uc009wat.3_Silent_p.V364V|SGIP1_uc001dcu.3_Silent_p.V75V	NM_032291	NP_115667	Q9BQI5	SGIP1_HUMAN	Homo sapiens SH3-domain GRB2-like (endophilin) interacting protein 1 (SGIP1), mRNA.	570					positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	SH3 domain binding|microtubule binding|phospholipid binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						CAGAAACAGTCAATGCCTATT	0.458000														16			12		0	0	1	0	0
HPS1	3257	broad.mit.edu	37	10	100183511	100183511	+	Splice_Site	SNP	G	A	A	rs147748659	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:100183511G>A	uc021pwv.1	-	15	1778	c.1532_splice	c.e15+1	p.R511_splice	HPS1_uc010qpg.2_Splice_Site_p.R131_splice|HPS1_uc009xwb.3_Splice_Site	NM_000195	NP_000186	Q92902	HPS1_HUMAN	Homo sapiens Hermansky-Pudlak syndrome 1 (HPS1), transcript variant 1, mRNA.	511					lysosome organization|response to stimulus|visual perception	cytoplasmic membrane-bounded vesicle|integral to plasma membrane|lysosome|membrane fraction|soluble fraction	protein dimerization activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.234)		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)		TGCACTTACCGCATGAGCCTC	0.672000									Hermansky-Pudlak syndrome					37			21		0	0	1	0	0
ZNF37A	7587	broad.mit.edu	37	10	38406660	38406660	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:38406660C>T	uc001izk.3	+	7	1411	c.581C>T	c.(580-582)aCa>aTa	p.T194I	ZNF37A_uc001izl.3_Missense_Mutation_p.T194I|ZNF37A_uc001izm.3_Missense_Mutation_p.T194I	NM_001007094	NP_003412	P17032	ZN37A_HUMAN	Homo sapiens zinc finger protein 37A (ZNF37A), transcript variant 1, mRNA.	194						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1)	28						CATCAGCAAACACATCCAAGA	0.383000														51			30		0	0	1	0	0
ZNF85	7639	broad.mit.edu	37	19	21131627	21131627	+	Silent	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:21131627A>C	uc002npg.4	+	3	455	c.307A>C	c.(307-309)Aga>Cga	p.R103R	ZNF85_uc010ecn.3_Silent_p.R38R|ZNF85_uc010eco.3_Silent_p.R51R|ZNF85_uc002npi.3_Silent_p.R44R	NM_003429	NP_003420	Q03923	ZNF85_HUMAN	Homo sapiens zinc finger protein 85 (ZNF85), transcript variant 1, mRNA.	103						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						GACACTGAAAAGATATGGAAA	0.348000														43			32		0	0	1	0	0
VIPR1	7433	broad.mit.edu	37	3	42577643	42577643	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:42577643A>G	uc003clf.2	+	12	1368	c.1244A>G	c.(1243-1245)aAc>aGc	p.N415S	VIPR1_uc021wwl.1_Missense_Mutation_p.N374S|VIPR1_uc011azn.2_Missense_Mutation_p.N388S|VIPR1_uc011azl.1_Missense_Mutation_p.N367S|VIPR1_uc011azm.1_Missense_Mutation_p.N205S|VIPR1_uc003clg.2_Missense_Mutation_p.N60S	NM_004624	NP_001238811	P32241	VIPR1_HUMAN	Homo sapiens vasoactive intestinal peptide receptor 1 (VIPR1), transcript variant 1, mRNA.	415					G-protein signaling, coupled to cyclic nucleotide second messenger|digestion|immune response|muscle contraction|positive regulation of cell proliferation|synaptic transmission	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|ovary(2)|skin(1)|urinary_tract(3)	18				KIRC - Kidney renal clear cell carcinoma(284;0.241)		CTGGGCTGGAACCCCAAATAC	0.701000														6			3		0	0	1	0	0
CCDC40	55036	broad.mit.edu	37	17	78073542	78073542	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:78073542G>A	uc010dht.3	+	19	3428	c.3397G>A	c.(3397-3399)Gcc>Acc	p.A1133T	CCDC40_uc002jxm.4_Missense_Mutation_p.A916T|CCDC40_uc002jxn.4_Missense_Mutation_p.A529T|GAA_uc002jxp.3_5'Flank|GAA_uc002jxo.3_5'Flank|GAA_uc002jxq.3_5'Flank	NM_017950	NP_060420	Q4G0X9	CCD40_HUMAN	Homo sapiens coiled-coil domain containing 40 (CCDC40), transcript variant 1, mRNA.	1133					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			CCAGATGATCGCCAACAAGCT	0.617000														17			7		0	0	1	0	0
WDR96	80217	broad.mit.edu	37	10	105891158	105891158	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:105891158C>T	uc001kxw.3	-	36	4878	c.4762G>A	c.(4762-4764)Gcc>Acc	p.A1588T	WDR96_uc009xxq.3_Missense_Mutation_p.A867T	NM_025145	NP_079421	Q8NDM7	WDR96_HUMAN	Homo sapiens WD repeat domain 96 (WDR96), mRNA.	1588										NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CAGCTTAGGGCATAATTTGCT	0.358000														69			8		0	0	1	0	0
ALG10B	144245	broad.mit.edu	37	12	38712126	38712126	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:38712126G>A	uc001rln.4	+	1	374	c.235G>A	c.(235-237)Gcc>Acc	p.A79T		NM_001013620	NP_001013642	Q5I7T1	AG10B_HUMAN	Homo sapiens asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog B (yeast) (ALG10B), mRNA.	79					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|plasma membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			breast(2)|kidney(3)|large_intestine(7)|lung(8)|ovary(4)|skin(1)	25	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)				GGTCAAACCTGCCATTTGGAT	0.398000														147			83		0	0	1	0	0
ADAR	103	broad.mit.edu	37	1	154574233	154574233	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:154574233G>A	uc001ffh.3	-	1	1127	c.885C>T	c.(883-885)gaC>gaT	p.D295D	ADAR_uc021pag.1_5'UTR|ADAR_uc001ffj.3_Silent_p.D295D|ADAR_uc001ffi.3_Silent_p.D295D|ADAR_uc001ffk.3_5'UTR|ADAR_uc001ffl.1_5'UTR	NM_001111	NP_001180424	P55265	DSRAD_HUMAN	Homo sapiens adenosine deaminase, RNA-specific (ADAR), transcript variant 1, mRNA.	295					adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		TCTCGGCCATGTCTAAAAACT	0.478000														151			8		0	0	1	0	0
PRPF31	26121	broad.mit.edu	37	19	54625310	54625310	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:54625310G>A	uc002qdh.2	+	3	706	c.310G>A	c.(310-312)Gaa>Aaa	p.E104K	PRPF31_uc010yek.1_Missense_Mutation_p.E104K|PRPF31_uc021vbi.1_Missense_Mutation_p.E104K	NM_015629	NP_056444	Q8WWY3	PRP31_HUMAN	Homo sapiens PRP31 pre-mRNA processing factor 31 homolog (S. cerevisiae) (PRPF31), mRNA.	104					assembly of spliceosomal tri-snRNP	Cajal body|MLL1 complex|U4 snRNP|U4/U6 x U5 tri-snRNP complex|U4atac snRNP|nuclear speck	RNA binding|snRNP binding			breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2)|urinary_tract(3)	12	all_cancers(19;0.00681)|all_epithelial(19;0.00362)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CGTGGAGATCGAAAACGAGCT	0.642000														13			6		0	0	1	0	0
DHX8	1659	broad.mit.edu	37	17	41576238	41576238	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:41576238C>A	uc002idu.1	+	9	1381	c.1309C>A	c.(1309-1311)Ctt>Att	p.L437I	DHX8_uc010wif.1_Missense_Mutation_p.L346I|DHX8_uc010wig.2_Missense_Mutation_p.L437I	NM_004941	NP_004932	Q14562	DHX8_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 8 (DHX8), mRNA.	437						catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|RNA binding|protein binding	p.D436N(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		AGATGAGGACCTTGAGATTGA	0.388000														18			14		6.31663e-08	7.34157e-08	1	1	0
UGCG	7357	broad.mit.edu	37	9	114688752	114688752	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:114688752G>T	uc004bft.3	+	4	824	c.534G>T	c.(532-534)caG>caT	p.Q178H		NM_003358	NP_003349	Q16739	CEGT_HUMAN	Homo sapiens UDP-glucose ceramide glucosyltransferase (UGCG), mRNA.	178					epidermis development|glucosylceramide biosynthetic process	Golgi membrane|integral to membrane|membrane fraction	ceramide glucosyltransferase activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|ovary(1)|urinary_tract(1)	12				OV - Ovarian serous cystadenocarcinoma(323;0.0433)	Miglustat(DB00419)	CAGACAGACAGGGCTTTGCTG	0.443000														56			5		5.9392e-07	6.7814e-07	1	1	0
ZNF43	7594	broad.mit.edu	37	19	22000714	22000714	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:22000714G>A	uc002nqj.3	-	2	335	c.205C>T	c.(205-207)Cat>Tat	p.H69Y	ZNF43_uc002nql.3_Missense_Mutation_p.H63Y|ZNF43_uc002nqm.3_Missense_Mutation_p.H63Y|ZNF43_uc010ecv.3_Missense_Mutation_p.H63Y|ZNF43_uc002nqk.3_5'UTR	NM_003423	NP_003414	P17038	ZNF43_HUMAN	Homo sapiens zinc finger protein 43 (ZNF43), mRNA.	69	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		ACCATTTCATGTCTCCTCATA	0.428000														93			69		0	0	1	0	0
ZNF462	58499	broad.mit.edu	37	9	109686747	109686747	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:109686747A>G	uc004bcz.3	+	2	843	c.554A>G	c.(553-555)cAc>cGc	p.H185R	MIR548Q_uc022bli.1_Intron|ZNF462_uc010mto.3_Missense_Mutation_p.H33R|ZNF462_uc004bda.3_Missense_Mutation_p.H33R	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN	Homo sapiens zinc finger protein 462 (ZNF462), mRNA.	185					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						AAGATGTATCACAAAAACAAT	0.488000														51			16		0	0	1	0	0
C17orf81	23587	broad.mit.edu	37	17	7162168	7162168	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7162168C>A	uc002gfg.1	+	7	866	c.759C>A	c.(757-759)acC>acA	p.T253T	C17orf81_uc010cmb.3_3'UTR|C17orf81_uc002gfh.1_Silent_p.T253T|C17orf81_uc002gfi.1_Silent_p.T253T|C17orf81_uc002gfj.3_3'UTR	NM_203415	NP_981960	Q8TE02	DERP6_HUMAN	Homo sapiens chromosome 17 open reading frame 81 (C17orf81), transcript variant 4, mRNA.	253					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding	p.A252G(1)		breast(2)|endometrium(2)|lung(9)|urinary_tract(1)	14						CTCATTTGACCTTTAACCTTC	0.512000														33			19		1.01871e-10	1.23424e-10	1	1	0
CNOT4	4850	broad.mit.edu	37	7	135082964	135082964	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:135082964G>T	uc003vsv.2	-	7	1167	c.836C>A	c.(835-837)cCt>cAt	p.P279H	CNOT4_uc011kpy.2_Missense_Mutation_p.P279H|CNOT4_uc011kpz.2_Missense_Mutation_p.P276H|CNOT4_uc003vst.3_Missense_Mutation_p.P279H|CNOT4_uc003vss.3_Missense_Mutation_p.P276H|CNOT4_uc003vsu.2_Missense_Mutation_p.P276H	NM_001190848	NP_001177777	O95628	CNOT4_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 4 (CNOT4), transcript variant 4, mRNA.	279					nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	RNA binding|nucleotide binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						AGAATCTGAAGGTTTGTCAAT	0.323000														58			9		7.48243e-07	8.52591e-07	1	1	0
RP11-165H20.1	149620	broad.mit.edu	37	1	111825252	111825252	+	RNA	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:111825252A>C	uc009wgb.3	+	2		c.1015A>C								Homo sapiens CHIA-like pseudogene (RP11-165H20.1), non-coding RNA.																		TCAGTCATCAAATTCCTGCGC	0.537000														68			9		0	0	1	0	0
TUBB4B	10383	broad.mit.edu	37	9	140137261	140137261	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:140137261C>T	uc004cmh.1	+	3	693	c.591C>T	c.(589-591)gaC>gaT	p.D197D	TUBB4B_uc004cmg.1_Silent_p.D51D	NM_006088	NP_006079	P68371	TBB2C_HUMAN	Homo sapiens tubulin, beta 4B class IVb (TUBB4B), mRNA.	197					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|cellular component movement|microtubule-based movement|natural killer cell mediated cytotoxicity|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|MHC class I protein binding|structural molecule activity|unfolded protein binding										AAAACACAGACGAGACCTACT	0.527000														65			11		0	0	1	0	0
PRSS38	339501	broad.mit.edu	37	1	228003901	228003901	+	Missense_Mutation	SNP	G	A	A	rs140039939		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:228003901G>A	uc001hrh.3	+	1	259	c.259G>A	c.(259-261)Ggc>Agc	p.G87S		NM_183062	NP_898885	A1L453	PRS38_HUMAN	Homo sapiens protease, serine, 38 (PRSS38), mRNA.	87	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						CGTCTGCGGCGGCTCCATCCT	0.672000														72			22		0	0	1	0	0
DHTKD1	55526	broad.mit.edu	37	10	12160831	12160831	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:12160831A>G	uc001ild.4	+	14	2585	c.2486A>G	c.(2485-2487)gAc>gGc	p.D829G		NM_018706	NP_061176	Q96HY7	DHTK1_HUMAN	Homo sapiens dehydrogenase E1 and transketolase domain containing 1 (DHTKD1), nuclear gene encoding mitochondrial protein, mRNA.	829					glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			AAGAAGCATGACTTTGCCATC	0.468000														155			25		0	0	1	0	0
CTNNA2	1496	broad.mit.edu	37	2	80874864	80874864	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:80874864C>T	uc010ysh.2	+	17	2734	c.2729C>T	c.(2728-2730)gCt>gTt	p.A910V	CTNNA2_uc010yse.2_Missense_Mutation_p.A862V|CTNNA2_uc010ysf.2_Missense_Mutation_p.A862V|CTNNA2_uc010ysg.2_Missense_Mutation_p.A817V|CTNNA2_uc010ysi.2_Missense_Mutation_p.A494V|CTNNA2_uc010ysj.2_Missense_Mutation_p.A191V	NM_004389	NP_004380	P26232	CTNA2_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 2 (CTNNA2), transcript variant 1, mRNA.	910					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						AAGATGAAGGCTCCAGAGAAG	0.493000														93			67		0	0	1	0	0
BRMS1L	84312	broad.mit.edu	37	14	36295758	36295758	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:36295758C>A	uc001wtl.3	+	0	162	c.36C>A	c.(34-36)acC>acA	p.T12T	BRMS1L_uc010tpx.1_5'UTR	NM_032352	NP_115728	Q5PSV4	BRM1L_HUMAN	Homo sapiens breast cancer metastasis-suppressor 1-like (BRMS1L), mRNA.	12					regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9	Breast(36;0.137)|Hepatocellular(127;0.158)		Lung(8;1.7e-07)|LUAD - Lung adenocarcinoma(9;3e-07)|Epithelial(34;0.00467)|all cancers(34;0.0157)|BRCA - Breast invasive adenocarcinoma(188;0.158)	GBM - Glioblastoma multiforme(112;0.0333)		AGAAGGAGACCAACCATCACG	0.607000														4			3		0.115264	0.116841	1	1	0
GKN2	200504	broad.mit.edu	37	2	69177295	69177295	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:69177295C>T	uc002sfa.3	-	2	276	c.167G>A	c.(166-168)gGa>gAa	p.G56E	GKN2_uc002sfb.4_Missense_Mutation_p.G56E	NM_182536	NP_872342	Q86XP6	GKN2_HUMAN	Homo sapiens gastrokine 2 (GKN2), mRNA.	56	BRICHOS.					extracellular region				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(1)	15						AGAGCATGATCCTGCATGGAT	0.368000														45			36		0	0	1	0	0
LOXL2	4017	broad.mit.edu	37	8	23177529	23177529	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:23177529G>A	uc003xdh.1	-	7	1678	c.1339C>T	c.(1339-1341)Cga>Tga	p.R447*	LOXL2_uc010lty.1_5'UTR	NM_002318	NP_002309	Q9Y4K0	LOXL2_HUMAN	Homo sapiens lysyl oxidase-like 2 (LOXL2), mRNA.	447	SRCR 4.				aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		ACCTCCACTCGGCCCTCGTAG	0.652000														22			13		0	0	1	0	0
MYO1C	4641	broad.mit.edu	37	17	1380819	1380819	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:1380819C>T	uc002fsp.3	-	13	1774	c.1554G>A	c.(1552-1554)aaG>aaA	p.K518K	MYO1C_uc002fsn.3_Silent_p.K499K|MYO1C_uc002fso.3_Silent_p.K483K|MYO1C_uc010vqj.1_Silent_p.K483K|MYO1C_uc010vqk.1_Silent_p.K494K	NM_001080779	NP_203693	O00159	MYO1C_HUMAN	Homo sapiens myosin IC (MYO1C), transcript variant 1, mRNA.	518	Myosin head-like.				mRNA transport|protein transport|transmembrane transport	basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GTGGATGGTGCTTGACAGTAT	0.657000														15			16		0	0	1	0	0
PORCN	64840	broad.mit.edu	37	X	48370738	48370738	+	Missense_Mutation	SNP	A	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:48370738A>T	uc010nie.1	+	4	556	c.398A>T	c.(397-399)aAg>aTg	p.K133M	PORCN_uc004djr.1_Missense_Mutation_p.K133M|PORCN_uc004djs.1_Missense_Mutation_p.K133M|PORCN_uc011mlx.1_Missense_Mutation_p.K62M|PORCN_uc004dju.1_Missense_Mutation_p.K2M|PORCN_uc004djv.1_Missense_Mutation_p.K133M|PORCN_uc004djw.1_Missense_Mutation_p.K133M	NM_203475	NP_982301	Q9H237	PORCN_HUMAN	Homo sapiens porcupine homolog (Drosophila) (PORCN), transcript variant D, mRNA.	133					Wnt receptor signaling pathway	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GTGGCCATGAAGGCAGTGTCT	0.607000														36			4		0	0	1	0	0
TBXAS1	6916	broad.mit.edu	37	7	139661747	139661747	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:139661747G>T	uc011kqv.2	+	9	1225	c.990G>T	c.(988-990)ctG>ctT	p.L330L	TBXAS1_uc003vvh.3_Silent_p.L284L|TBXAS1_uc010lne.3_Silent_p.L216L|TBXAS1_uc011kqu.2_Silent_p.L235L|TBXAS1_uc003vvi.3_Silent_p.L284L|TBXAS1_uc011kqw.2_Silent_p.L264L|TBXAS1_uc003vvj.3_Silent_p.L284L	NM_001166253	NP_001159725	P24557	THAS_HUMAN	Homo sapiens thromboxane A synthase 1 (platelet) (TBXAS1), transcript variant 4, mRNA.	283					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity	p.V329L(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28	Melanoma(164;0.0142)					AAATGGTCCTGGATGCCCGAC	0.507000														41			9		3.07112e-06	3.45634e-06	1	1	0
ADAM33	80332	broad.mit.edu	37	20	3652086	3652086	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:3652086T>C	uc002wit.3	-	16	2050	c.1963A>G	c.(1963-1965)Act>Gct	p.T655A	ADAM33_uc002wiq.1_5'Flank|ADAM33_uc002wir.1_Missense_Mutation_p.T655A|ADAM33_uc002wis.3_Intron|ADAM33_uc002wiu.3_Intron|AX748440_uc002wiv.1_5'Flank|ADAM33_uc002wiw.1_Non-coding_Transcript|ADAM33_uc010gba.1_Intron	NM_025220	NP_079496	Q9BZ11	ADA33_HUMAN	Homo sapiens ADAM metallopeptidase domain 33 (ADAM33), transcript variant 1, mRNA.	655	EGF-like.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3)	29						TGGCAGGCAGTCAGGCAGCGC	0.632000														87			7		0	0	1	0	0
GABRG2	2566	broad.mit.edu	37	5	161569262	161569262	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:161569262G>A	uc010jjc.3	+	7	1340	c.982G>A	c.(982-984)Gtc>Atc	p.V328I	GABRG2_uc003lyy.4_Missense_Mutation_p.V288I|GABRG2_uc003lyz.4_Missense_Mutation_p.V288I|GABRG2_uc011dej.2_Missense_Mutation_p.V193I	NM_198903	NP_944493	P18507	GBRG2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 2 (GABRG2), transcript variant 3, mRNA.	288			K -> M (in GEFS+3).		gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		ACTCATTGTCGTCCTATCCTG	0.433000														91			51		0	0	1	0	0
CD163L1	283316	broad.mit.edu	37	12	7522096	7522096	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:7522096G>A	uc010sge.2	-	14	3952	c.3926C>T	c.(3925-3927)gCt>gTt	p.A1309V	CD163L1_uc001qsy.3_Missense_Mutation_p.A1299V	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA.	1299	SRCR 12.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						GCCAAACGAAGCGTCCCTCAG	0.592000														61			45		0	0	1	0	0
BAZ2A	11176	broad.mit.edu	37	12	56995055	56995055	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56995055C>T	uc001slq.1	-	20	4403	c.4209G>A	c.(4207-4209)caG>caA	p.Q1403Q	BAZ2A_uc001slp.1_Silent_p.Q1401Q|BAZ2A_uc001slo.1_Silent_p.Q231Q|BAZ2A_uc009zov.1_Silent_p.Q373Q|BAZ2A_uc009zow.1_Silent_p.Q1371Q	NM_013449	NP_038477	Q9UIF9	BAZ2A_HUMAN	Homo sapiens bromodomain adjacent to zinc finger domain, 2A (BAZ2A), mRNA.	1403	Pro-rich.				DNA methylation|chromatin silencing at rDNA|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|RNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|zinc ion binding			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						TCCGTTTGGGCTGTCCCAGCC	0.592000														22			16		0	0	1	0	0
BRDT	676	broad.mit.edu	37	1	92446488	92446488	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:92446488T>C	uc001dol.4	+	10	1921	c.1503T>C	c.(1501-1503)tcT>tcC	p.S501S	BRDT_uc010osz.2_Silent_p.S505S|BRDT_uc001dok.4_Silent_p.S501S|BRDT_uc009wdf.3_Silent_p.S428S|BRDT_uc010otb.2_Silent_p.S455S|BRDT_uc010ota.2_Silent_p.S455S|BRDT_uc001dom.4_Silent_p.S501S	NM_001242805	NP_001229734	Q58F21	BRDT_HUMAN	Homo sapiens bromodomain, testis-specific (BRDT), transcript variant 3, mRNA.	501					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		GTCTAAAATCTGAAGATGAAG	0.333000														61			12		0	0	1	0	0
ZNF326	284695	broad.mit.edu	37	1	90473240	90473240	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:90473240A>C	uc001dnq.2	+	4	685	c.546A>C	c.(544-546)gaA>gaC	p.E182D	ZNF326_uc009wda.1_Missense_Mutation_p.E93D|ZNF326_uc001dnr.2_Intron	NM_182976	NP_892021	Q5BKZ1	ZN326_HUMAN	Homo sapiens zinc finger protein 326 (ZNF326), transcript variant 1, mRNA.	182	Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	DNA binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(7)|ovary(1)	25		all_lung(203;0.0116)|Lung NSC(277;0.0417)		all cancers(265;0.00728)|Epithelial(280;0.0265)		CTTATCCTGAAAGTACGTTTG	0.478000														38			39		0	0	1	0	0
C15orf2	23742	broad.mit.edu	37	15	24922006	24922006	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:24922006C>T	uc001ywo.3	+	0	1466	c.992C>T	c.(991-993)tCg>tTg	p.S331L		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	331	Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis			p.S331L(2)		NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		AGGAAAATGTCGATTCCATTG	0.582000														26			17		0	0	1	0	0
PPIG	9360	broad.mit.edu	37	2	170492668	170492668	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:170492668T>C	uc002uez.3	+	12	1304	c.1084T>C	c.(1084-1086)Tgg>Cgg	p.W362R	PPIG_uc010fpx.3_Missense_Mutation_p.W347R|PPIG_uc010fpy.3_Missense_Mutation_p.W355R|PPIG_uc002ufb.3_Missense_Mutation_p.W362R|PPIG_uc002ufd.3_Missense_Mutation_p.W359R	NM_004792	NP_004783	Q13427	PPIG_HUMAN	Homo sapiens peptidylprolyl isomerase G (cyclophilin G) (PPIG), mRNA.	362					RNA splicing|protein folding	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	TCCTCCACATTGGAGGCAAGA	0.378000														71			7		0	0	1	0	0
GOLGA8DP	100132979	broad.mit.edu	37	15	22709152	22709152	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:22709152G>T	uc010axw.2	-	10	1245	c.347C>A	c.(346-348)gCg>gAg	p.A116E	abParts_uc001yuj.2_Intron|GOLGA8DP_uc010axx.2_Missense_Mutation_p.A116E|DQ588687_uc010tzw.1_5'Flank|DQ582939_uc021sfj.1_5'Flank					Homo sapiens golgin A8 family, member D, pseudogene (GOLGA8DP), non-coding RNA.																		GGCCTGGAGCGCTCCTGCCAC	0.607000														41			4		0.00024832	0.000267289	1	1	0
NAMPT	10135	broad.mit.edu	37	7	105925305	105925305	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:105925305A>G	uc003vdq.3	-	0	334	c.26T>C	c.(25-27)tTc>tCc	p.F9S	NAMPT_uc003vdr.1_Missense_Mutation_p.F9S|NAMPT_uc011klu.1_Missense_Mutation_p.F9S	NM_005746	NP_005737	P43490	NAMPT_HUMAN	Homo sapiens nicotinamide phosphoribosyltransferase (NAMPT), mRNA.	9					NAD biosynthetic process|cell-cell signaling|nicotinamide metabolic process|positive regulation of cell proliferation|positive regulation of nitric-oxide synthase biosynthetic process|signal transduction|water-soluble vitamin metabolic process	cytosol	cytokine activity|nicotinamide phosphoribosyltransferase activity|nicotinate phosphoribosyltransferase activity|nicotinate-nucleotide diphosphorylase (carboxylating) activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14						GAGGATGTTGAACTCGGCTTC	0.692000														5			5		0	0	1	0	0
LRRC2	79442	broad.mit.edu	37	3	46592989	46592989	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:46592989C>A	uc010hji.3	-	1	486	c.93G>T	c.(91-93)gaG>gaT	p.E31D	LRRC2_uc003cpu.4_Missense_Mutation_p.E31D	NM_024512	NP_078788	Q9BYS8	LRRC2_HUMAN	Homo sapiens leucine rich repeat containing 2 (LRRC2), mRNA.	31										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	17		Ovarian(412;0.0563)		OV - Ovarian serous cystadenocarcinoma(275;6.37e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00133)|KIRC - Kidney renal clear cell carcinoma(197;0.0214)|Kidney(197;0.0254)		GCCTTTCCACCTCCTTCTTCT	0.463000														54			25		4.4004e-07	5.03744e-07	1	1	0
C11orf9	745	broad.mit.edu	37	11	61549094	61549094	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:61549094C>A	uc001nsc.1	+	21	2910	c.2814C>A	c.(2812-2814)tcC>tcA	p.S938S	C11orf9_uc001nse.1_Silent_p.S903S|C11orf9_uc010rll.1_Silent_p.S329S	NM_001127392	NP_001120864	Q9Y2G1	MRF_HUMAN	Homo sapiens chromosome 11 open reading frame 9 (C11orf9), transcript variant 2, mRNA.	938					central nervous system myelination|positive regulation of myelination|positive regulation of transcription, DNA-dependent	integral to membrane|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|prostate(1)	29						GAGCCAAGTCCTGGGGTCTTT	0.597000														84			8		5.18039e-06	5.80246e-06	1	1	0
FAM120B	84498	broad.mit.edu	37	6	170626873	170626873	+	Missense_Mutation	SNP	T	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:170626873T>A	uc003qxp.3	+	1	503	c.395T>A	c.(394-396)tTc>tAc	p.F132Y	FAM120B_uc003qxo.1_Missense_Mutation_p.F132Y|FAM120B_uc011ehd.2_Intron	NM_032448	NP_115824	Q96EK7	F120B_HUMAN	Homo sapiens family with sequence similarity 120B (FAM120B), mRNA.	132					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)		AATATGTTCTTCATCCCCTCA	0.453000														68			34		0	0	1	0	0
SLC39A7	7922	broad.mit.edu	37	6	33171570	33171570	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:33171570C>A	uc003odf.3	+	7	1507	c.1390C>A	c.(1390-1392)Ctg>Atg	p.L464M	RXRB_uc011dqr.2_5'Flank|SLC39A7_uc003odg.3_Missense_Mutation_p.L464M|SLC39A7_uc011dqv.2_Missense_Mutation_p.L339M|HSD17B8_uc003odi.1_5'Flank	NM_001077516	NP_008910	Q92504	S39A7_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 7 (SLC39A7), transcript variant 2, mRNA.	464				CALLTEGGAVGSEIAGGAGPGWVLPFTAGGFIYVATVSVLP ELLREASPLQSLLEVLGLLGGVIMMVLIAHLE -> VPFSL KEEQWTVKLQVVQVLAGSCHLLQVALST (in Ref. 1; BAA11528 and 2; AAD12305).		endoplasmic reticulum membrane|integral to membrane|membrane fraction	protein binding|zinc ion transmembrane transporter activity			NS(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						CATGATGGTGCTGATTGCCCA	0.592000														36			18		3.32936e-07	3.81974e-07	1	1	0
SYNPR	132204	broad.mit.edu	37	3	63466615	63466615	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:63466615G>A	uc003dlp.3	+	2	488	c.192G>A	c.(190-192)gcG>gcA	p.A64A	SYNPR_uc011bfk.2_Intron|SYNPR_uc011bfl.2_Non-coding_Transcript|SYNPR_uc003dlq.3_Silent_p.A44A|SYNPR_uc010hnt.3_Silent_p.A53A|SYNPR_uc011bfm.2_Non-coding_Transcript	NM_001130003	NP_001123475	Q8TBG9	SYNPR_HUMAN	Homo sapiens synaptoporin (SYNPR), transcript variant 1, mRNA.	44	MARVEL.					cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	transporter activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	8				BRCA - Breast invasive adenocarcinoma(55;0.000918)|KIRC - Kidney renal clear cell carcinoma(15;0.0658)|Kidney(15;0.0904)		TCGACATAGCGTTTGCCTACC	0.478000														69			51		0	0	1	0	0
PAFAH2	5051	broad.mit.edu	37	1	26310982	26310982	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:26310982G>A	uc001bld.4	-	4	559	c.379C>T	c.(379-381)Cgt>Tgt	p.R127C	PAFAH2_uc001ble.4_Missense_Mutation_p.R127C	NM_000437	NP_000428	Q99487	PAFA2_HUMAN	Homo sapiens platelet-activating factor acetylhydrolase 2, 40kDa (PAFAH2), mRNA.	127					lipid catabolic process	cytoplasm	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding			NS(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|urinary_tract(1)	9		Colorectal(325;3.47e-05)|Lung NSC(340;6.23e-05)|all_lung(284;9.48e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-25)|Colorectal(126;3.57e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00155)|GBM - Glioblastoma multiforme(114;0.00717)|READ - Rectum adenocarcinoma(331;0.0649)		ACAAAGCCACGTGAGGCCAGC	0.517000														9			9		0	0	1	0	0
CNTN3	5067	broad.mit.edu	37	3	74344360	74344360	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:74344360G>T	uc003dpm.1	-	17	2509	c.2429C>A	c.(2428-2430)tCt>tAt	p.S810Y		NM_020872	NP_065923	Q9P232	CNTN3_HUMAN	Homo sapiens contactin 3 (plasmacytoma associated) (CNTN3), mRNA.	810	Fibronectin type-III 3.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		GCTATTTGCAGAGACTTGAGA	0.373000														32			23		2.32416e-17	2.96135e-17	1	1	0
SRCAP	10847	broad.mit.edu	37	16	30735405	30735405	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:30735405G>A	uc002dze.1	+	24	5045	c.4660G>A	c.(4660-4662)Gct>Act	p.A1554T	SRCAP_uc002dzf.3_Non-coding_Transcript|SRCAP_uc002dzg.1_Missense_Mutation_p.A1349T	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Homo sapiens Snf2-related CREBBP activator protein (SRCAP), mRNA.	1554	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	p.S1553L(1)		NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			GCCAGCTTCGGCTCTGGCCAG	0.587000														29			19		0	0	1	0	0
KCNN2	3781	broad.mit.edu	37	5	113831667	113831667	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:113831667C>A	uc003kqo.3	+	7	1985	c.1528C>A	c.(1528-1530)Ctg>Atg	p.L510M	KCNN2_uc003kqp.3_Missense_Mutation_p.L162M|KCNN2_uc010jcg.3_Non-coding_Transcript|AK097686_uc003kqr.1_Intron	NM_021614	NP_067627	Q9H2S1	KCNN2_HUMAN	Homo sapiens potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2 (KCNN2), transcript variant 1, mRNA.	510						integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity	p.T509T(1)|p.L510L(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)		GATTGTTACCCTGGAAACAAA	0.448000														101			9		7.48243e-07	8.52591e-07	1	1	0
GCC2	9648	broad.mit.edu	37	2	109098228	109098228	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:109098228C>T	uc002tec.3	+	9	3290	c.3136C>T	c.(3136-3138)Cgt>Tgt	p.R1046C	GCC2_uc002ted.3_Missense_Mutation_p.R945C	NM_181453	NP_852118	Q8IWJ2	GCC2_HUMAN	Homo sapiens GRIP and coiled-coil domain containing 2 (GCC2), transcript variant 1, mRNA.	1046					Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						TTTTGAGCATCGTATTGAAGA	0.279000														29			16		0	0	1	0	0
DOCK5	80005	broad.mit.edu	37	8	25249495	25249495	+	Splice_Site	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:25249495C>A	uc003xeg.3	+	43	4577	c.4440_splice	c.e43+1	p.A1480_splice	DOCK5_uc003xek.3_Intron|DOCK5_uc003xei.3_Splice_Site_p.A1050_splice|DOCK5_uc003xej.3_Splice_Site	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN	Homo sapiens dedicator of cytokinesis 5 (DOCK5), mRNA.	1480	DHR-2.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		AATGAATTTGCTGTGAGTTCA	0.522000														8			11		1.58986e-06	1.80238e-06	1	1	0
PHF20L1	51105	broad.mit.edu	37	8	133854893	133854893	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:133854893A>C	uc003ytt.3	+	18	2846	c.2521A>C	c.(2521-2523)Aac>Cac	p.N841H	PHF20L1_uc011lja.2_Missense_Mutation_p.N815H	NM_016018	NP_057102	A8MW92	P20L1_HUMAN	Homo sapiens PHD finger protein 20-like 1 (PHF20L1), transcript variant 1, mRNA.	841							nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			ATATGTACAGAACCATAAAGA	0.383000														32			17		0	0	1	0	0
OR9Q2	219957	broad.mit.edu	37	11	57958410	57958410	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:57958410G>A	uc010rka.2	+	0	505	c.448G>A	c.(448-450)Gtt>Att	p.V150I		NM_001005283	NP_001005283	Q8NGE9	OR9Q2_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily Q, member 2 (OR9Q2), mRNA.	150					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(24)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41		Breast(21;0.0589)				TGGGGCTTACGTTGCTGGTTT	0.527000														42			28		0	0	1	0	0
CHL1	10752	broad.mit.edu	37	3	447371	447371	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:447371G>T	uc003bot.3	+	27	4294	c.3652G>T	c.(3652-3654)Gca>Tca	p.A1218S	CHL1_uc003bou.3_Missense_Mutation_p.A1202S|CHL1_uc011asi.2_Missense_Mutation_p.A1165S	NM_006614	NP_006605	O00533	CHL1_HUMAN	Homo sapiens cell adhesion molecule with homology to L1CAM (close homolog of L1) (CHL1), transcript variant 1, mRNA.	1202					axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		AAGTTCTACAGCAACTTTTCC	0.438000														33			30		1.22384e-17	1.5618e-17	1	1	0
FAM208B	54906	broad.mit.edu	37	10	5788715	5788715	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:5788715C>A	uc001iij.3	+	14	3956	c.3331C>A	c.(3331-3333)Ccc>Acc	p.P1111T	FAM208B_uc001iik.3_Intron	NM_017782	NP_060252	Q5VWN6	CJ018_HUMAN	Homo sapiens family with sequence similarity 208, member B (FAM208B), mRNA.	1111																	GAGGGACATTCCCTCTCTAGT	0.468000														69			53		1.63038e-21	2.1118e-21	1	1	0
PLK3	1263	broad.mit.edu	37	1	45270140	45270140	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:45270140A>G	uc001cmn.3	+	11	1572	c.1472A>G	c.(1471-1473)gAt>gGt	p.D491G		NM_004073	NP_004064	Q9H4B4	PLK3_HUMAN	Homo sapiens polo-like kinase 3 (PLK3), mRNA.	491	POLO box 1.		D -> N (in dbSNP:rs17855444).			membrane	ATP binding|protein binding|protein serine/threonine kinase activity			endometrium(4)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					CTCTTCAACGATGGCACACAT	0.557000														48			20		0	0	1	0	0
COL7A1	1294	broad.mit.edu	37	3	48624626	48624626	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:48624626G>T	uc003ctz.2	-	22	3137	c.3136C>A	c.(3136-3138)Cca>Aca	p.P1046T		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA.	1046	Fibronectin type-III 9.|Nonhelical region (NC1).				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		ACTATACCTGGCGTCTGTGTG	0.612000														13			4		3.59834e-05	3.95114e-05	1	1	0
PPP2R2C	5522	broad.mit.edu	37	4	6473947	6473947	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:6473947C>T	uc003gjc.3	-	0	227	c.10G>A	c.(10-12)Gac>Aac	p.D4N	PPP2R2C_uc011bwd.2_Intron|PPP2R2C_uc011bwe.2_Intron	NM_001206996	NP_001193925	Q9Y2T4	2ABG_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B, gamma (PPP2R2C), transcript variant 5, mRNA.	4					signal transduction	protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	28						GTGTCCGTGTCCTCGCCCATT	0.672000														48			20		0	0	1	0	0
CHEK2P2	646096	broad.mit.edu	37	15	20488798	20488798	+	RNA	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:20488798G>T	uc001ytf.1	+	1		c.281G>T								Homo sapiens checkpoint kinase 2 pseudogene 2 (CHEK2P2), non-coding RNA.																		TCTCTCATGAGAACTTTATGT	0.418000														73			19		5.35267e-07	6.12308e-07	1	1	0
NFXL1	152518	broad.mit.edu	37	4	47887941	47887941	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:47887941C>T	uc010igh.3	-	12	1796	c.1619G>A	c.(1618-1620)gGc>gAc	p.G540D	NFXL1_uc003gxp.3_Missense_Mutation_p.G540D|NFXL1_uc003gxq.4_Non-coding_Transcript|NFXL1_uc010igi.3_Missense_Mutation_p.G540D	NM_152995	NP_694540	Q6ZNB6	NFXL1_HUMAN	Homo sapiens nuclear transcription factor, X-box binding-like 1 (NFXL1), mRNA.	540						integral to membrane|nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(4)	27						ACGTTCTCGGCCACAGGGCAC	0.438000														102			67		0	0	1	0	0
TMC8	147138	broad.mit.edu	37	17	76130984	76130984	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:76130984C>A	uc002jup.2	+	8	1403	c.1021C>A	c.(1021-1023)Cct>Act	p.P341T	TMC6_uc002jul.1_5'Flank|TMC8_uc002juq.2_Missense_Mutation_p.P118T|TMC8_uc010wtr.1_Missense_Mutation_p.P58T|TMC8_uc002jur.1_5'Flank	NM_152468	NP_689681	Q8IU68	TMC8_HUMAN	Homo sapiens transmembrane channel-like 8 (TMC8), mRNA.	341						endoplasmic reticulum membrane|integral to membrane				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192)			GTACCTGCCCCCTGGGGTCAT	0.647000														27			5		0.000602214	0.000641151	1	1	0
AQP3	360	broad.mit.edu	37	9	33442895	33442895	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:33442895G>T	uc003zsx.3	-	3	550	c.447C>A	c.(445-447)acC>acA	p.T149T	AQP3_uc010mju.3_Silent_p.T149T|AQP3_uc003zsv.2_3'UTR	NM_004925	NP_004916	Q92482	AQP3_HUMAN	Homo sapiens aquaporin 3 (Gill blood group) (AQP3), mRNA.	149					excretion|odontogenesis|positive regulation of immune system process|regulation of keratinocyte differentiation|response to calcium ion|response to retinoic acid|response to vitamin D	basolateral plasma membrane|cell-cell junction|cytoplasm	glycerol channel activity|water channel activity			endometrium(2)|large_intestine(3)|lung(2)|ovary(1)	8			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.0899)		CAGAGGGGTAGGTAGCAAAGA	0.552000														84			38		2.09667e-21	2.71394e-21	1	1	0
PFKFB3	5209	broad.mit.edu	37	10	6255642	6255642	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:6255642G>A	uc001ije.3	+	1	517	c.133G>A	c.(133-135)Gcc>Acc	p.A45T	PFKFB3_uc001ijd.3_Missense_Mutation_p.A25T|PFKFB3_uc009xii.3_Non-coding_Transcript|PFKFB3_uc010qaw.2_Missense_Mutation_p.A59T|PFKFB3_uc001ijf.3_Missense_Mutation_p.A45T	NM_004566	NP_004557	Q16875	F263_HUMAN	Homo sapiens 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3 (PFKFB3), transcript variant 1, mRNA.	45	6-phosphofructo-2-kinase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|liver(2)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)	22						GGGCCTCCCCGCCCGGGGCAA	0.597000														72			39		0	0	1	0	0
PPP1R10	5514	broad.mit.edu	37	6	30570286	30570286	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:30570286C>T	uc003nqn.1	-	18	2692	c.2140G>A	c.(2140-2142)Gaa>Aaa	p.E714K	PPP1R10_uc010jsc.1_Missense_Mutation_p.E368K	NM_002714	NP_002705	Q96QC0	PP1RA_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 10 (PPP1R10), mRNA.	714	Gly-rich.				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|RNA binding|protein phosphatase inhibitor activity|zinc ion binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						ggaggaggTTCGTTTCCTCCT	0.682000														14			5		0	0	1	0	0
SLC47A2	146802	broad.mit.edu	37	17	19610012	19610012	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:19610012G>T	uc002gwe.4	-	8	1073	c.898C>A	c.(898-900)Ctc>Atc	p.L300I	SLC47A2_uc002gwg.4_Missense_Mutation_p.L264I|SLC47A2_uc002gwf.4_Missense_Mutation_p.L264I|SLC47A2_uc002gwh.4_Non-coding_Transcript|SLC47A2_uc002gwi.3_Non-coding_Transcript|SLC47A2_uc010cqs.1_Non-coding_Transcript|SLC47A2_uc010cqt.1_Non-coding_Transcript	NM_152908	NP_690872	Q86VL8	S47A2_HUMAN	Homo sapiens solute carrier family 47, member 2 (SLC47A2), transcript variant 1, mRNA.	300						integral to membrane|plasma membrane	drug:hydrogen antiporter activity			endometrium(2)|kidney(3)|large_intestine(2)|lung(1)|ovary(1)	9	all_cancers(12;2.3e-05)|all_epithelial(12;0.0024)|Breast(13;0.245)					CAGATCATGAGCATGCTGGGG	0.627000														51			22		6.21321e-17	7.89382e-17	1	1	0
TFB2M	64216	broad.mit.edu	37	1	246729428	246729428	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:246729428C>A	uc001ibn.3	-	0	138	c.13G>T	c.(13-15)Gtg>Ttg	p.V5L	CNST_uc001ibo.4_5'Flank|CNST_uc001ibp.3_5'Flank|TFB2M_uc010pys.1_Non-coding_Transcript	NM_022366	NP_071761	Q9H5Q4	TFB2M_HUMAN	Homo sapiens transcription factor B2, mitochondrial (TFB2M), nuclear gene encoding mitochondrial protein, mRNA.	5					positive regulation of transcription, DNA-dependent|transcription initiation from mitochondrial promoter	mitochondrial nucleoid	protein binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity|transcription cofactor activity			breast(1)|endometrium(1)|kidney(12)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(71;4.25e-05)|all_epithelial(71;4.92e-06)|Ovarian(71;0.0254)|all_lung(81;0.0272)|Breast(184;0.0318)|Lung NSC(105;0.0376)		OV - Ovarian serous cystadenocarcinoma(106;0.00358)			AGCCCGACCACTGGGATCCAC	0.597000														18			16		3.52763e-06	3.96648e-06	1	1	0
KIAA0907	22889	broad.mit.edu	37	1	155884087	155884087	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155884087G>T	uc001fmi.1	-	13	1694	c.1670C>A	c.(1669-1671)aCt>aAt	p.T557N	RIT1_uc001fmh.1_5'Flank|RIT1_uc010pgr.1_5'Flank|KIAA0907_uc001fmj.1_3'UTR	NM_014949	NP_055764	Q7Z7F0	K0907_HUMAN	Homo sapiens KIAA0907 (KIAA0907), mRNA.	557										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			CTTCTCTGTAGTTTTCATCTT	0.403000														22			40		4.14481e-20	5.34294e-20	1	1	0
KIRREL3	84623	broad.mit.edu	37	11	126301387	126301387	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:126301387G>A	uc001qea.3	-	13	1984	c.1623C>T	c.(1621-1623)gcC>gcT	p.A541A	KIRREL3_uc001qeb.3_Silent_p.A529A|KIRREL3_uc001qec.1_Silent_p.A541A|ST3GAL4_uc001qdx.1_Intron	NM_032531	NP_115920	Q8IZU9	KIRR3_HUMAN	Homo sapiens kin of IRRE like 3 (Drosophila) (KIRREL3), transcript variant 1, mRNA.	541					hemopoiesis	extracellular region|integral to membrane|plasma membrane	protein binding			central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)		CAGCTCCTACGGCCACCCCAA	0.602000														16			17		0	0	1	0	0
MASP1	5648	broad.mit.edu	37	3	186943254	186943254	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:186943254G>A	uc003frh.2	-	12	1989	c.1599C>T	c.(1597-1599)ctC>ctT	p.L533L		NM_001879	NP_001870	P48740	MASP1_HUMAN	Homo sapiens mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor) (MASP1), transcript variant 1, mRNA.	533	Peptidase S1.				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity	p.L533I(1)		NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		GTTTGACGCCGAGATGCTGTT	0.532000														130			10		0	0	1	0	0
KRAS	3845	broad.mit.edu	37	12	25398280	25398280	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:25398280G>A	uc001rgp.1	-	1	220	c.39C>T	c.(37-39)ggC>ggT	p.G13G	KRAS_uc001rgq.1_Silent_p.G13G|KRAS_uc001rgr.3_Non-coding_Transcript|DD157417_uc021qwd.1_Non-coding_Transcript	NM_033360	NP_203524	P01116	RASK_HUMAN	Homo sapiens v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog (KRAS), transcript variant a, mRNA.	13			G -> D (in a breast carcinoma cell line and GASC; somatic mutation).|G -> R (in pylocytic astrocytoma; somatic mutation; increase activation of the Ras pathway).		Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8564)|p.G12V(5758)|p.G13D(3272)|p.G12C(2975)|p.G12A(1401)|p.G12S(1288)|p.G12R(790)|p.G13C(212)|p.G13S(59)|p.G12?(57)|p.G12F(50)|p.G13R(44)|p.G13V(38)|p.G13G(35)|p.G13A(28)|p.G13E(9)|p.G12G(9)|p.G12L(9)|p.G12N(6)|p.G13_V14insG(4)|p.G12I(4)|p.G12W(4)|p.G12_G13insG(4)|p.G13N(3)|p.G12E(3)|p.G13_V14>DI(2)|p.A11_G12insGA(2)|p.G12Y(2)|p.G13I(1)|p.G13P(1)|p.G12fs*3(1)|p.G12_G13insA(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			TCTTGCCTACGCCACCAGCTC	0.343000		119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				21			4		0	0	1	0	0
FMN1	342184	broad.mit.edu	37	15	33261476	33261476	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:33261476C>A	uc001zhf.4	-	3	1757	c.1757G>T	c.(1756-1758)aGa>aTa	p.R586I	SNORD77_uc021sip.1_5'Flank	NM_001103184	NP_001096654	Q68DA7	FMN1_HUMAN	Homo sapiens formin 1 (FMN1), mRNA.	809	Mediates interaction with alpha-catenin (By similarity).|Microtubule-binding (By similarity).				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		GAAGGTCTCTCTGTCTGTCTG	0.468000														366			44		4.86159e-25	6.3575e-25	1	1	0
LPHN2	23266	broad.mit.edu	37	1	82436143	82436143	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:82436143C>T	uc001dit.4	+	14	3009	c.2828C>T	c.(2827-2829)gCt>gTt	p.A943V	LPHN2_uc001dis.3_Intron|LPHN2_uc001diu.3_Missense_Mutation_p.A943V|LPHN2_uc001div.3_Missense_Mutation_p.A943V|LPHN2_uc009wcd.3_Missense_Mutation_p.A943V|LPHN2_uc001diw.3_Missense_Mutation_p.A527V|LPHN2_uc009wce.1_Missense_Mutation_p.A29V	NM_012302	NP_036434	O95490	LPHN2_HUMAN	Homo sapiens latrophilin 2 (LPHN2), mRNA.	956					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		TACTATGTTGCTGGTTACTTG	0.398000														40			68		0	0	1	0	0
CCDC146	57639	broad.mit.edu	37	7	76871012	76871012	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:76871012C>T	uc003uga.3	+	3	371	c.244C>T	c.(244-246)Caa>Taa	p.Q82*		NM_020879	NP_065930	Q8IYE0	CC146_HUMAN	Homo sapiens coiled-coil domain containing 146 (CCDC146), mRNA.	82										breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				ACCCAGCACACAAGAGTCAGA	0.483000														42			18		0	0	1	0	0
TMX2	51075	broad.mit.edu	37	11	57505440	57505440	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:57505440A>G	uc001nlc.2	+	2	402	c.306A>G	c.(304-306)acA>acG	p.T102T	CTNND1_uc001nlf.2_Intron|TMX2_uc001nld.2_Silent_p.T8T|TMX2_uc001nle.2_Intron|TMX2_uc021qji.1_Intron	NM_015959	NP_057043	Q9Y320	TMX2_HUMAN	Homo sapiens thioredoxin-related transmembrane protein 2 (TMX2), transcript variant 1, mRNA.	102					cell redox homeostasis	integral to membrane				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(2)	12						TGGCCAACACAATTCTTTTCT	0.428000														168			9		0	0	1	0	0
SLC27A1	376497	broad.mit.edu	37	19	17615413	17615413	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:17615413G>A	uc002ngu.1	+	11	1983	c.1933G>A	c.(1933-1935)Gcc>Acc	p.A645T	SLC27A1_uc010xpp.1_Missense_Mutation_p.A466T|SLC27A1_uc002ngv.1_Missense_Mutation_p.A247T	NM_198580	NP_940982	Q6PCB7	S27A1_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 1 (SLC27A1), mRNA.	645					cardiolipin biosynthetic process|fatty acid metabolic process|long-chain fatty acid transport|negative regulation of phospholipid biosynthetic process|phosphatidic acid biosynthetic process|phosphatidylcholine biosynthetic process|phosphatidylethanolamine biosynthetic process|phosphatidylinositol biosynthetic process|phosphatidylserine biosynthetic process|transmembrane transport	endomembrane system|integral to membrane	fatty acid transporter activity|nucleotide binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						GGGCGCCTTCGCCCTCTGAAG	0.622000														15			10		0	0	1	0	0
ATP7A	538	broad.mit.edu	37	X	77267082	77267082	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:77267082C>A	uc004ecx.4	+	8	2243	c.2083C>A	c.(2083-2085)Ctt>Att	p.L695I	ATP7A_uc004ecw.2_3'UTR	NM_000052	NP_000043	Q04656	ATP7A_HUMAN	Homo sapiens ATPase, Cu++ transporting, alpha polypeptide (ATP7A), mRNA.	695					ATP biosynthetic process|T-helper cell differentiation|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						AATGATCAACCTTCATTCTTC	0.383000														171			81		2.36143e-25	3.09039e-25	1	1	0
COPB2	9276	broad.mit.edu	37	3	139090653	139090653	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:139090653C>A	uc003etf.4	-	9	1247	c.1117G>T	c.(1117-1119)Ggg>Tgg	p.G373W	COPB2_uc011bmv.2_Missense_Mutation_p.G344W|COPB2_uc010hui.3_Missense_Mutation_p.G344W	NM_004766	NP_004757	P35606	COPB2_HUMAN	Homo sapiens coatomer protein complex, subunit beta 2 (beta prime) (COPB2), transcript variant 1, mRNA.	373					COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	24						ATATACTCCCCATCACCACAC	0.433000														33			18		1.00905e-13	1.25782e-13	1	1	0
TTBK2	146057	broad.mit.edu	37	15	43045409	43045409	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:43045409A>G	uc001zqo.2	-	13	2474	c.2035T>C	c.(2035-2037)Tca>Cca	p.S679P	TTBK2_uc010bcy.2_Missense_Mutation_p.S610P	NM_173500	NP_775771	Q6IQ55	TTBK2_HUMAN	Homo sapiens tau tubulin kinase 2 (TTBK2), mRNA.	679					cell death		ATP binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		CCTGAAGTTGACTGTGTAGAT	0.413000														24			16		0	0	1	0	0
TAS2R41	259287	broad.mit.edu	37	7	143175323	143175323	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:143175323C>A	uc003wdc.1	+	0	358	c.358C>A	c.(358-360)Ctg>Atg	p.L120M	LOC285965_uc003wda.3_Intron	NM_176883	NP_795364	P59536	T2R41_HUMAN	Homo sapiens taste receptor, type 2, member 41 (TAS2R41), mRNA.	120					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18	Melanoma(164;0.15)					CTCCACCTTCCTGTGGCTGAA	0.522000														60			13		4.3838e-07	5.01911e-07	1	1	0
CLLU1OS	574016	broad.mit.edu	37	12	92814775	92814775	+	Splice_Site	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:92814775C>A	uc001tcb.1	-	3	319	c.317_splice	c.e3+1		CLLU1_uc001tcc.2_5'Flank|CLLU1_uc001tcd.2_5'Flank|CLLU1_uc001tce.1_5'Flank|CLLU1_uc001tcf.2_5'Flank	NM_001025232	NP_001020403	Q5K130	CLU1O_HUMAN	Homo sapiens chronic lymphocytic leukemia up-regulated 1 opposite strand (CLLU1OS), mRNA.											large_intestine(1)|lung(7)	8						TCTCTCTCACCTGTACATTTC	0.418000														176			100		2.34315e-34	3.10309e-34	1	1	0
NPY	4852	broad.mit.edu	37	7	24324914	24324914	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:24324914C>T	uc003sww.2	+	1	143	c.55C>T	c.(55-57)Ctc>Ttc	p.L19F		NM_000905	NP_000896	P01303	NPY_HUMAN	Homo sapiens neuropeptide Y (NPY), mRNA.	19					G-protein signaling, coupled to cyclic nucleotide second messenger|adult feeding behavior|calcium ion transport|cell proliferation|cellular component movement|central nervous system neuron development|cerebral cortex development|digestion|neuron projection development|neuropeptide signaling pathway|positive regulation of appetite|synaptic transmission	cell|extracellular space	G-protein coupled receptor activity|calcium channel regulator activity|neuropeptide hormone activity			breast(1)|kidney(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	9						CCTGTCCCTGCTCGTGTGCCT	0.657000														44			40		0	0	1	0	0
LPHN1	22859	broad.mit.edu	37	19	14263606	14263606	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:14263606G>A	uc010xnn.2	-	19	3724	c.3428C>T	c.(3427-3429)aCa>aTa	p.T1143I	LPHN1_uc010xno.2_Missense_Mutation_p.T1138I|LOC100507373_uc002myf.3_Intron	NM_001008701	NP_001008701	O94910	LPHN1_HUMAN	Homo sapiens latrophilin 1 (LPHN1), transcript variant 1, mRNA.	1143					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CTGGGTCCCTGTGTAGTAGCG	0.622000														42			25		0	0	1	0	0
TLR10	81793	broad.mit.edu	37	4	38776080	38776080	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:38776080T>C	uc003gtj.3	-	3	1770	c.1132A>G	c.(1132-1134)Att>Gtt	p.I378V	TLR10_uc021xnk.1_Missense_Mutation_p.I364V|TLR10_uc003gti.3_Missense_Mutation_p.I378V|TLR10_uc021xnl.1_Missense_Mutation_p.I378V|TLR10_uc003gtk.3_Missense_Mutation_p.I378V|TLR10_uc021xnm.1_Missense_Mutation_p.I378V	NM_030956	NP_001182037	Q9BXR5	TLR10_HUMAN	Homo sapiens toll-like receptor 10 (TLR10), transcript variant 1, mRNA.	378					MyD88-dependent toll-like receptor signaling pathway|inflammatory response|innate immune response	integral to membrane|plasma membrane	transmembrane receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						CCATTCAAAATGAGAGTTTTC	0.333000														57			41		0	0	1	0	0
FZD2	2535	broad.mit.edu	37	17	42636613	42636613	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:42636613G>A	uc002igx.2	+	0	1802	c.1557G>A	c.(1555-1557)acG>acA	p.T519T		NM_001466	NP_001457	Q14332	FZD2_HUMAN	Homo sapiens frizzled family receptor 2 (FZD2), mRNA.	519					G-protein signaling, coupled to cGMP nucleotide second messenger|Wnt receptor signaling pathway, calcium modulating pathway|axonogenesis|brain development|canonical Wnt receptor signaling pathway|epithelial cell differentiation|gonad development|positive regulation of cGMP metabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|vasculature development	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	p.F518L(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		CCGACTTCACGGTCTACATGA	0.622000														11			5		0	0	1	0	0
KLK13	26085	broad.mit.edu	37	19	51559997	51559997	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:51559997T>C	uc002pvn.3	-	4	724	c.681A>G	c.(679-681)acA>acG	p.T227T	KLK13_uc002pvl.3_Non-coding_Transcript|KLK13_uc002pvm.3_Non-coding_Transcript|KLK13_uc002pvo.3_Non-coding_Transcript|KLK13_uc002pvp.3_Non-coding_Transcript|KLK13_uc010eon.3_Silent_p.T154T|KLK13_uc002pvq.3_Non-coding_Transcript|KLK13_uc010eoo.3_Silent_p.T75T	NM_015596	NP_056411	Q9UKR3	KLK13_HUMAN	Homo sapiens kallikrein-related peptidase 13 (KLK13), mRNA.	227	Peptidase S1.				proteolysis		protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	16		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00432)		TGCCATACAGTGTTCTGTTAC	0.572000														72			8		0	0	1	0	0
PRR23C	389152	broad.mit.edu	37	3	138763115	138763115	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:138763115G>A	uc011bmt.1	-	0	620	c.348C>T	c.(346-348)ggC>ggT	p.G116G		NM_001134657	NP_001128129	Q6ZRP0	PR23C_HUMAN	Homo sapiens proline rich 23C (PRR23C), mRNA.	116										breast(2)|lung(7)|skin(2)	11						CAGACCAGTCGCCCTGCGCTC	0.632000														5			4		0	0	1	0	0
DPP4	1803	broad.mit.edu	37	2	162903928	162903928	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:162903928A>G	uc002ubz.3	-	2	739	c.178T>C	c.(178-180)Tta>Cta	p.L60L	DPP4_uc010fpb.3_5'UTR|DPP4_uc002uca.1_Non-coding_Transcript|DPP4_uc002ucb.1_Non-coding_Transcript	NM_001935	NP_001926	P27487	DPP4_HUMAN	Homo sapiens dipeptidyl-peptidase 4 (DPP4), mRNA.	60					T cell activation|T cell costimulation|cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia	apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft	aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Sitagliptin(DB01261)	ATCCATCTTAAGGAGTATAAC	0.368000														35			16		0	0	1	0	0
BLMH	642	broad.mit.edu	37	17	28601165	28601165	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:28601165G>T	uc002hez.2	-	6	1043	c.696C>A	c.(694-696)acC>acA	p.T232T	BLMH_uc010wbn.2_Silent_p.T145T	NM_000386	NP_000377	Q13867	BLMH_HUMAN	Homo sapiens bleomycin hydrolase (BLMH), mRNA.	232					proteolysis	cytoplasm|nucleus	aminopeptidase activity|carboxypeptidase activity|cysteine-type endopeptidase activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|stomach(1)	13						GATATTCCCAGGTGAATGTCT	0.438000														42			7		2.0095e-06	2.27092e-06	1	1	0
ATMIN	23300	broad.mit.edu	37	16	81077072	81077072	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:81077072C>A	uc002ffz.1	+	3	987	c.969C>A	c.(967-969)tcC>tcA	p.S323S	ATMIN_uc002fga.2_Silent_p.S165S|ATMIN_uc010vnn.1_Silent_p.S94S|ATMIN_uc002fgb.1_Silent_p.S165S	NM_015251	NP_056066	O43313	ATMIN_HUMAN	Homo sapiens ATM interactor (ATMIN), mRNA.	323	Required for formation of RAD51 foci.				response to DNA damage stimulus	nucleus	zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	20						CAGCCGACTCCTCAGCCCAGC	0.517000														58			31		4.11147e-13	5.10659e-13	1	1	0
SMAD2	4087	broad.mit.edu	37	18	45396887	45396887	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:45396887C>A	uc002lcy.3	-	2	533	c.285G>T	c.(283-285)caG>caT	p.Q95H	SMAD2_uc002lcz.3_Missense_Mutation_p.Q95H|SMAD2_uc010xdc.2_Intron|SMAD2_uc010xdd.1_Intron	NM_005901	NP_005892	Q15796	SMAD2_HUMAN	Homo sapiens SMAD family member 2 (SMAD2), transcript variant 1, mRNA.	95	MH1.				SMAD protein complex assembly|anterior/posterior pattern formation|cell fate commitment|common-partner SMAD protein phosphorylation|intracellular signal transduction|mesoderm formation|negative regulation of transcription, DNA-dependent|palate development|paraxial mesoderm morphogenesis|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|regulation of binding|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis	activin responsive factor complex|cytosol	I-SMAD binding|R-SMAD binding|activating transcription factor binding|co-SMAD binding|double-stranded DNA binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(21)|liver(1)|lung(8)|prostate(2)|urinary_tract(1)	43						TTGTATCCCACTGATCTATCG	0.408000														144			12		0.00136819	0.00144449	1	1	0
FYCO1	79443	broad.mit.edu	37	3	46008666	46008666	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:46008666C>T	uc011bal.1	-	6	2272	c.2160G>A	c.(2158-2160)caG>caA	p.Q720Q	FYCO1_uc003cpb.4_Silent_p.Q720Q	NM_024513	NP_078789	Q9BQS8	FYCO1_HUMAN	Homo sapiens FYVE and coiled-coil domain containing 1 (FYCO1), mRNA.	720					transport	integral to membrane	metal ion binding|protein binding			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		CTGCCAGTTGCTGGCACTGCT	0.607000														145			13		0	0	1	0	0
NELL1	4745	broad.mit.edu	37	11	20939758	20939758	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:20939758A>G	uc009yid.3	+	6	871	c.718A>G	c.(718-720)Atg>Gtg	p.M240V	NELL1_uc010rdp.2_Intron|NELL1_uc001mqe.3_Missense_Mutation_p.M212V|NELL1_uc001mqf.3_Missense_Mutation_p.M212V|NELL1_uc010rdo.2_Missense_Mutation_p.M155V	NM_006157	NP_006148	Q92832	NELL1_HUMAN	Homo sapiens NEL-like 1 (chicken) (NELL1), transcript variant 1, mRNA.	212					cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						GATCATCTTTATGCCGAATGG	0.368000														70			38		0	0	1	0	0
MST1P2	11209	broad.mit.edu	37	1	16975417	16975417	+	RNA	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:16975417C>T	uc010och.2	+	8		c.1698C>T			MST1P2_uc009vox.3_Non-coding_Transcript|MST1P2_uc001azm.4_Non-coding_Transcript					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 2 (MST1P2), non-coding RNA.																		GGTGGATCGGCTGGATCAGCG	0.592000														59			8		0	0	1	0	0
MLYCD	23417	broad.mit.edu	37	16	83940604	83940604	+	Missense_Mutation	SNP	G	A	A	rs147617160	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:83940604G>A	uc002fgz.3	+	1	561	c.541G>A	c.(541-543)Gtg>Atg	p.V181M		NM_012213	NP_036345	O95822	DCMC_HUMAN	Homo sapiens malonyl-CoA decarboxylase (MLYCD), nuclear gene encoding mitochondrial protein, mRNA.	181					acyl-CoA metabolic process|fatty acid biosynthetic process	mitochondrion|peroxisome	malonyl-CoA decarboxylase activity|methylmalonyl-CoA decarboxylase activity			NS(1)|biliary_tract(1)|breast(1)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						AATGAATGGGGTGCTGAAAGG	0.473000														70			36		0	0	1	0	0
CFH	3075	broad.mit.edu	37	1	196887380	196887380	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:196887380C>A	uc001gtp.3	+	9	1718	c.1581C>A	c.(1579-1581)aaC>aaA	p.N527K	CFH_uc021pgt.1_Missense_Mutation_p.N150K|CFH_uc009wyy.3_Missense_Mutation_p.N526K|CFH_uc001gto.3_Missense_Mutation_p.N280K	NM_001201550	NP_001188479	P08603	CFAH_HUMAN	Homo sapiens complement factor H-related 4 (CFHR4), transcript variant 1, mRNA.	879	Sushi 9.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						ATAAAAATAACATACAGTTAA	0.274000														40			33		7.11191e-15	8.93066e-15	1	1	0
TMEM131	23505	broad.mit.edu	37	2	98375414	98375414	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:98375414G>A	uc002syh.4	-	39	5538	c.5309C>T	c.(5308-5310)gCg>gTg	p.A1770V	TMEM131_uc002syg.3_Missense_Mutation_p.A150V	NM_015348	NP_056163	Q92545	TM131_HUMAN	Homo sapiens transmembrane protein 131 (TMEM131), mRNA.	1770	Ser-rich.					integral to membrane		p.E1769K(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						GGGATCTGTCGCTGGCGACTC	0.592000														12			15		0	0	1	0	0
DCC	1630	broad.mit.edu	37	18	50450170	50450170	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:50450170C>A	uc002lfe.2	+	3	1407	c.791C>A	c.(790-792)tCt>tAt	p.S264Y	DCC_uc010xdr.1_Missense_Mutation_p.S112Y	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	264	Ig-like C2-type 3.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TGTTGTGTTTCTGGCTATCCT	0.408000														37			28		9.39395e-14	1.17142e-13	1	1	0
LRP1	4035	broad.mit.edu	37	12	57574962	57574962	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57574962C>T	uc001snd.3	+	33	6016	c.5550C>T	c.(5548-5550)tgC>tgT	p.C1850C		NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	1850	EGF-like 8.				aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CCAACCCCTGCAGTGTCAACA	0.647000														56			5		0	0	1	0	0
EMR1	2015	broad.mit.edu	37	19	6921808	6921808	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:6921808A>G	uc002mfw.3	+	13	1743	c.1705A>G	c.(1705-1707)Atc>Gtc	p.I569V	EMR1_uc010dvc.3_Missense_Mutation_p.I569V|EMR1_uc010dvb.3_Missense_Mutation_p.I517V|EMR1_uc010xji.2_Missense_Mutation_p.I428V|EMR1_uc010xjj.2_Missense_Mutation_p.I392V	NM_001974	NP_001965	Q14246	EMR1_HUMAN	Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 1 (EMR1), transcript variant 1, mRNA.	569	GPS.|Ser/Thr-rich.				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					TGGCTGTGTGATCCTGGAAGC	0.468000														72			7		0	0	1	0	0
RFX2	5990	broad.mit.edu	37	19	5994951	5994951	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:5994951G>A	uc002meb.3	-	17	2336	c.2067C>T	c.(2065-2067)ggC>ggT	p.G689G	RFX2_uc002mec.3_Silent_p.G664G	NM_000635	NP_000626	P48378	RFX2_HUMAN	Homo sapiens regulatory factor X, 2 (influences HLA class II expression) (RFX2), transcript variant 1, mRNA.	689					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						GCTGCTCATCGCCCATGTCAT	0.662000														11			21		0	0	1	0	0
COL9A1	1297	broad.mit.edu	37	6	70944298	70944298	+	Splice_Site	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:70944298T>C	uc003pfg.4	-	35	2419	c.2260_splice	c.e35-1	p.G754_splice	COL9A1_uc003pfe.4_Splice_Site_p.G303_splice|COL9A1_uc003pff.4_Splice_Site_p.G511_splice	NM_001851	NP_001842	P20849	CO9A1_HUMAN	Homo sapiens collagen, type IX, alpha 1 (COL9A1), transcript variant 1, mRNA.	754	Triple-helical region (COL2).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						TGCTCTACCCTGGGACAGAAA	0.408000														48			7		0	0	1	0	0
SH3BGR	6450	broad.mit.edu	37	21	40847093	40847093	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:40847093G>T	uc002yya.3	+	2	507	c.453G>T	c.(451-453)gaG>gaT	p.E151D	SH3BGR_uc002yxz.3_Missense_Mutation_p.E40D	NM_007341	NP_001001713	P55822	SH3BG_HUMAN	Homo sapiens SH3 domain binding glutamic acid-rich protein (SH3BGR), transcript variant 1, mRNA.	151					protein complex assembly	cytosol	SH3 domain binding|SH3/SH2 adaptor activity	p.E150*(1)		NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(2)	8		all_cancers(19;1.16e-23)|all_epithelial(19;1.22e-20)|Prostate(19;2.55e-06)|Breast(209;0.0133)		STAD - Stomach adenocarcinoma(101;0.00151)		CAAAAGAAGAGAATATTATTT	0.363000														44			4		0.000602214	0.000641151	1	1	0
CALCOCO2	10241	broad.mit.edu	37	17	46925799	46925799	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:46925799C>A	uc010wlr.2	+	4	550	c.471C>A	c.(469-471)atC>atA	p.I157I	CALCOCO2_uc010wlq.2_Silent_p.I61I|CALCOCO2_uc010wls.2_Silent_p.I133I|CALCOCO2_uc002iof.3_Silent_p.I133I|CALCOCO2_uc010wlp.2_Silent_p.I154I	NM_005831	NP_005822	Q13137	CACO2_HUMAN	Homo sapiens calcium binding and coiled-coil domain 2 (CALCOCO2), mRNA.	133					response to interferon-gamma|viral reproduction	Golgi apparatus|cytoskeleton|nucleus|perinuclear region of cytoplasm|soluble fraction	protein homodimerization activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	15						AGGAAGACATCCTGGTTGTTA	0.438000														109			8		3.09899e-07	3.55757e-07	1	1	0
LRP1B	53353	broad.mit.edu	37	2	141460073	141460073	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:141460073G>A	uc002tvj.1	-	37	7045	c.6073C>T	c.(6073-6075)Cgc>Tgc	p.R2025C		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	2025					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.R2025S(2)|p.R2025H(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CCATCCAAGCGAGCCTTTCCA	0.408000										TSP Lung(27;0.18)				42			27		0	0	1	0	0
UHRF1BP1L	23074	broad.mit.edu	37	12	100452367	100452367	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:100452367A>G	uc001tgq.3	-	13	2917	c.2688T>C	c.(2686-2688)gaT>gaC	p.D896D	UHRF1BP1L_uc001tgp.3_Silent_p.D546D	NM_015054	NP_055869	A0JNW5	UH1BL_HUMAN	Homo sapiens UHRF1 binding protein 1-like (UHRF1BP1L), transcript variant 1, mRNA.	896										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						TAGGCAAATAATCAGGTACCA	0.363000														36			24		0	0	1	0	0
LOC646214	646214	broad.mit.edu	37	15	21938078	21938078	+	RNA	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:21938078G>A	uc010tzj.1	-	0		c.2662C>T								Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 2 pseudogene (LOC646214), non-coding RNA.																		CTGCTCATTCGCACGGGAGGT	0.507000														155			48		0	0	1	0	0
NTHL1	4913	broad.mit.edu	37	16	2093650	2093650	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:2093650G>A	uc002col.1	-	3	646	c.627C>T	c.(625-627)gcC>gcT	p.A209A	TCRBV20S1_uc021tak.1_Intron	NM_002528	NP_002519	P78549	NTHL1_HUMAN	Homo sapiens nth endonuclease III-like 1 (E. coli) (NTHL1), mRNA.	209					depyrimidination|nucleotide-excision repair, DNA incision, 5'-to lesion	nucleoplasm	4 iron, 4 sulfur cluster binding|double-stranded DNA binding|endonuclease activity|metal ion binding|oxidized pyrimidine base lesion DNA N-glycosylase activity|protein binding			lung(1)	1						CCACCAGCTCGGCCACAGAGG	0.622000								Base excision repair (BER), DNA glycosylases						20			9		0	0	1	0	0
SORCS3	22986	broad.mit.edu	37	10	106849576	106849576	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:106849576G>A	uc001kyi.1	+	5	1299	c.1072G>A	c.(1072-1074)Gag>Aag	p.E358K		NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA.	358						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		GGTGCACATGGAGGTGCGGAC	0.557000														21			9		0	0	1	0	0
GALNT6	11226	broad.mit.edu	37	12	51759335	51759335	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:51759335G>A	uc001ryk.2	-	3	918	c.693C>T	c.(691-693)taC>taT	p.Y231Y	GALNT6_uc009zma.1_Non-coding_Transcript|GALNT6_uc001ryl.1_Silent_p.Y231Y	NM_007210	NP_009141	Q8NCL4	GALT6_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6) (GALNT6), mRNA.	231	Catalytic subdomain A.				protein O-linked glycosylation	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						GCTGCTTCACGTACTGCTCCA	0.632000														42			40		0	0	1	0	0
GCK	2645	broad.mit.edu	37	7	44189415	44189415	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:44189415G>A	uc003tkl.2	-	5	1093	c.623C>T	c.(622-624)gCc>gTc	p.A208V	GCK_uc003tkj.1_Missense_Mutation_p.A207V|GCK_uc003tkk.1_Missense_Mutation_p.A209V	NM_000162	NP_000153	P35557	HXK4_HUMAN	Homo sapiens glucokinase (hexokinase 4) (GCK), transcript variant 1, mRNA.	208					cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport	cytosol|nucleoplasm	ATP binding|glucokinase activity|glucose binding|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						GATCATCGTGGCCACCGTGTC	0.567000														74			20		0	0	1	0	0
MSI2	124540	broad.mit.edu	37	17	55752348	55752348	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:55752348G>A	uc002iuz.1	+	11	979	c.806G>A	c.(805-807)cGg>cAg	p.R269Q	MSI2_uc010wnm.1_Missense_Mutation_p.R265Q	NM_138962	NP_620412	Q96DH6	MSI2H_HUMAN	Homo sapiens musashi homolog 2 (Drosophila) (MSI2), transcript variant 1, mRNA.	269						cytoplasm	RNA binding|nucleotide binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(1)|pancreas(1)|skin(1)	7	Breast(9;1.78e-08)			GBM - Glioblastoma multiforme(1;0.0025)		AACCCGGCGCGGCCCGGAGGC	0.642000			T	HOXA9	CML									76			53		0	0	1	0	0
EFNA5	1946	broad.mit.edu	37	5	106722938	106722938	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:106722938G>A	uc003kol.3	-	3	845	c.563C>T	c.(562-564)gCa>gTa	p.A188V		NM_001962	NP_001953	P52803	EFNA5_HUMAN	Homo sapiens ephrin-A5 (EFNA5), mRNA.	188					cell-cell signaling	anchored to plasma membrane|caveola|extracellular space	ephrin receptor binding			large_intestine(6)	6		all_cancers(142;5.15e-06)|all_epithelial(76;4.39e-07)|Prostate(80;0.00726)|Lung NSC(167;0.0736)|Ovarian(225;0.0797)|all_lung(232;0.0854)|Colorectal(57;0.241)		Epithelial(69;1.25e-12)|OV - Ovarian serous cystadenocarcinoma(64;1.32e-11)|BRCA - Breast invasive adenocarcinoma(61;0.0376)|COAD - Colon adenocarcinoma(37;0.109)		ATACTAACCTGCTGGTTCTAA	0.328000														13			7		0	0	1	0	0
ZNF791	163049	broad.mit.edu	37	19	12738674	12738674	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:12738674C>T	uc002mua.2	+	3	493	c.331C>T	c.(331-333)Cgt>Tgt	p.R111C	ZNF791_uc010xml.1_Missense_Mutation_p.R79C|ZNF791_uc010dyu.1_Missense_Mutation_p.R2C|ZNF791_uc010xmm.1_Missense_Mutation_p.R2C	NM_153358	NP_699189	Q3KP31	ZN791_HUMAN	Homo sapiens zinc finger protein 791 (ZNF791), mRNA.	111					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						AGCCTTCATGCGTCTCTCATC	0.423000														85			42		0	0	1	0	0
MED12L	116931	broad.mit.edu	37	3	151101986	151101986	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:151101986A>G	uc003eyp.3	+	32	4930	c.4801A>G	c.(4801-4803)Aat>Gat	p.N1601D	MED12L_uc011bnz.2_Missense_Mutation_p.N1461D|P2RY12_uc011boa.2_Intron|P2RY12_uc003eyx.1_Intron|MED12L_uc003eyy.1_Missense_Mutation_p.N764D	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	Homo sapiens mediator complex subunit 12-like (MED12L), mRNA.	1601					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TGCATACATGAATTTAGTAAA	0.363000														69			8		0	0	1	0	0
PPARGC1A	10891	broad.mit.edu	37	4	23814673	23814673	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:23814673A>G	uc003gqs.3	-	8	1989	c.1869T>C	c.(1867-1869)cgT>cgC	p.R623R	PPARGC1A_uc003gqt.3_Non-coding_Transcript	NM_013261	NP_037393	Q9UBK2	PRGC1_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator 1 alpha (PPARGC1A), mRNA.	623	Arg/Ser-rich.				RNA splicing|androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mRNA processing|mitochondrion organization|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|RNA binding|RNA polymerase II transcription cofactor activity|androgen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|transcription factor binding			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				GCGATCTTGAACGTGATCTCA	0.483000														68			34		0	0	1	0	0
LAMP5	24141	broad.mit.edu	37	20	9510426	9510426	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:9510426C>T	uc002wni.2	+	5	1297	c.802C>T	c.(802-804)Cag>Tag	p.Q268*	LAMP5_uc010zrc.2_Nonsense_Mutation_p.Q224*	NM_012261	NP_036393	Q9UJQ1	CT103_HUMAN	Homo sapiens lysosomal-associated membrane protein family, member 5 (LAMP5), transcript variant 1, mRNA.	268						integral to membrane											CAACCAGGTGCAGATCCCTCG	0.542000														35			18		0	0	1	0	0
C5	727	broad.mit.edu	37	9	123722524	123722524	+	Splice_Site	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:123722524A>G	uc004bkv.3	-	38	4708	c.4678_splice	c.e38+1	p.A1560_splice		NM_001735	NP_001726	P01031	CO5_HUMAN	Homo sapiens complement component 5 (C5), mRNA.	1560	NTR.				G-protein coupled receptor protein signaling pathway|activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	TTTTGAACTCACCATATGCAA	0.323000														35			6		0	0	1	0	0
WWC1	23286	broad.mit.edu	37	5	167894882	167894882	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:167894882C>T	uc003lzu.3	+	21	3281	c.3188C>T	c.(3187-3189)aCa>aTa	p.T1063I	WWC1_uc003lzv.3_Missense_Mutation_p.T1068I|WWC1_uc011den.2_Missense_Mutation_p.T1069I|WWC1_uc003lzw.3_Missense_Mutation_p.T861I|WWC1_uc010jjf.1_Missense_Mutation_p.T335I	NM_015238	NP_056053	Q8IX03	KIBRA_HUMAN	Homo sapiens WW and C2 domain containing 1 (WWC1), transcript variant 3, mRNA.	1063	Interaction with histone H3.				cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity	p.Q1062Q(1)		breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		GAGCTTCAGACAGACAAGATG	0.587000														34			7		0	0	1	0	0
PTGFRN	5738	broad.mit.edu	37	1	117509809	117509809	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:117509809G>A	uc001egv.1	+	5	2053	c.1916G>A	c.(1915-1917)cGc>cAc	p.R639H		NM_020440	NP_065173	Q9P2B2	FPRP_HUMAN	Homo sapiens prostaglandin F2 receptor negative regulator (PTGFRN), mRNA.	639	Ig-like C2-type 5.					Golgi apparatus|endoplasmic reticulum membrane|integral to membrane	protein binding	p.R639S(1)		NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		GATGAGTTCCGCTATCGAATG	0.542000														43			37		0	0	1	0	0
ZNF812	729648	broad.mit.edu	37	19	9801183	9801183	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9801183G>T	uc021uop.1	-	5	1642	c.996C>A	c.(994-996)caC>caA	p.H332Q	ZNF812_uc010xkx.2_Missense_Mutation_p.H228Q	NM_001199814	NP_001186743	P0C7V5	ZN812_HUMAN	Homo sapiens zinc finger protein 812 (ZNF812), mRNA.	332					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						TACACTGATAGTGTTTCTCTC	0.418000														63			12		2.80697e-09	3.3309e-09	1	1	0
TRPV5	56302	broad.mit.edu	37	7	142612660	142612660	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:142612660G>T	uc003wby.1	-	8	1465	c.1201C>A	c.(1201-1203)Ctc>Atc	p.L401I		NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 5 (TRPV5), mRNA.	401					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					ACCTCTAGGAGCAGGATGATC	0.547000														28			12		7.03913e-09	8.30711e-09	1	1	0
TTN	7273	broad.mit.edu	37	2	179592328	179592328	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179592328C>T	uc021vsy.1	-	64	16470	c.16245G>A	c.(16243-16245)acG>acA	p.T5415T	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.T2076T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	6342	Ig-like 35.						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)			CAAGCAACATCGTAGTACAAG	0.398000														109			76		0	0	1	0	0
HRH2	3274	broad.mit.edu	37	5	175111286	175111286	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:175111286C>T	uc003mdc.4	+	1	1694	c.1050C>T	c.(1048-1050)gtC>gtT	p.V350V	HRH2_uc003mdd.2_Silent_p.V350V	NM_001131055	NP_001124527	P25021	HRH2_HUMAN	Homo sapiens histamine receptor H2 (HRH2), transcript variant 1, mRNA.	350					G-protein signaling, coupled to cyclic nucleotide second messenger|immune response	integral to plasma membrane	histamine receptor activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1)	22	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Nizatidine(DB00585)|Ranitidine(DB00863)	GGACAGAAGTCACGGCCCCCC	0.582000														62			37		0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152476032	152476032	+	Missense_Mutation	SNP	A	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:152476032A>T	uc021zhb.1	-	130	24347	c.24124T>A	c.(24124-24126)Ttt>Att	p.F8042I	SYNE1_uc003qos.4_Missense_Mutation_p.F2566I|SYNE1_uc003qot.4_Missense_Mutation_p.F7971I|SYNE1_uc003qou.4_Missense_Mutation_p.F8042I|SYNE1_uc011eez.2_Missense_Mutation_p.F244I|SYNE1_uc003qoq.4_Missense_Mutation_p.F244I|SYNE1_uc003qor.4_Missense_Mutation_p.F942I	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	8042					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	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)		ATTACCTCAAATTTCTTTAGT	0.388000										HNSCC(10;0.0054)				117			9		0	0	1	0	0
C1QTNF6	114904	broad.mit.edu	37	22	37578569	37578569	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:37578569C>T	uc003aqx.1	-	2	759	c.496G>A	c.(496-498)Gaa>Aaa	p.E166K	C1QTNF6_uc003aqw.1_Missense_Mutation_p.E147K|C1QTNF6_uc003aqy.1_Missense_Mutation_p.E166K|C1QTNF6_uc003aqz.1_Non-coding_Transcript	NM_182486	NP_872292	Q9BXI9	C1QT6_HUMAN	Homo sapiens C1q and tumor necrosis factor related protein 6 (C1QTNF6), transcript variant 2, mRNA.	147	C1q.					collagen		p.E166K(2)		breast(1)|large_intestine(2)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)	11						AAGACCCTTTCGAAGAGCAGC	0.622000														36			18		0	0	1	0	0
EPOR	2057	broad.mit.edu	37	19	11489001	11489001	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:11489001C>T	uc002mrj.2	-	7	1321	c.1186G>A	c.(1186-1188)Gcc>Acc	p.A396T	EPOR_uc010xly.2_Missense_Mutation_p.A223T|EPOR_uc002mrk.2_Missense_Mutation_p.A223T|EPOR_uc010xlx.2_Non-coding_Transcript	NM_000121	NP_000112	P19235	EPOR_HUMAN	Homo sapiens erythropoietin receptor (EPOR), transcript variant 1, mRNA.	396						extracellular region|integral to plasma membrane	erythropoietin receptor activity|identical protein binding			endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5					Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)	TCATCCATGGCCACTATGTCC	0.597000											OREG0025254	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		38			16		0	0	1	0	0
COL12A1	1303	broad.mit.edu	37	6	75843580	75843580	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:75843580C>A	uc021zbv.1	-	31	5693	c.5658G>T	c.(5656-5658)gaG>gaT	p.E1886D	COL12A1_uc021zbw.1_Missense_Mutation_p.E722D|COL12A1_uc003phs.3_Missense_Mutation_p.E1886D|COL12A1_uc003pht.3_Missense_Mutation_p.E722D	NM_004370	NP_004361	Q99715	COCA1_HUMAN	Homo sapiens collagen, type XII, alpha 1 (COL12A1), transcript variant long, mRNA.	1886	Fibronectin type-III 14.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						TTACCAGTTCCTCTGGACCAC	0.433000														26			15		1.3612e-06	1.54683e-06	1	1	0
DBF4B	80174	broad.mit.edu	37	17	42807456	42807456	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:42807456G>A	uc002ihf.3	+	3	622	c.409G>A	c.(409-411)Gtt>Att	p.V137I	DBF4B_uc002ihd.2_Missense_Mutation_p.V137I|DBF4B_uc010wjb.1_Non-coding_Transcript|DBF4B_uc002ihe.3_5'UTR|DBF4B_uc010wjc.2_Missense_Mutation_p.V137I|DBF4B_uc002ihg.3_Missense_Mutation_p.V121I	NM_145663	NP_663696	Q8NFT6	DBF4B_HUMAN	Homo sapiens DBF4 homolog B (S. cerevisiae) (DBF4B), transcript variant 1, mRNA.	137					cell cycle	nucleus	nucleic acid binding|zinc ion binding			kidney(1)|large_intestine(1)|lung(5)	7		Prostate(33;0.0322)				ACGGAAACCCGTTGACTCGGT	0.507000														30			19		0	0	1	0	0
FOCAD	54914	broad.mit.edu	37	9	20881924	20881924	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:20881924G>A	uc003zog.1	+	21	2735	c.2372G>A	c.(2371-2373)cGt>cAt	p.R791H	FOCAD_uc003zoh.1_Missense_Mutation_p.R227H	NM_017794	NP_060264	Q5VW36	K1797_HUMAN	Homo sapiens KIAA1797 (KIAA1797), mRNA.	791						integral to membrane	binding										AATATGCCTCGTGGGATATAT	0.373000														94			22		0	0	1	0	0
ZBED1	9189	broad.mit.edu	37	X	2406829	2406829	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:2406829C>A	uc022brx.1	-	0	1932	c.1932G>T	c.(1930-1932)caG>caT	p.Q644H	DHRSX_uc004cqf.4_Intron|ZBED1_uc004cqh.2_Missense_Mutation_p.Q644H|ZBED1_uc004cqg.2_Missense_Mutation_p.Q644H|ZBED1_uc022brw.1_Missense_Mutation_p.Q644H	NM_004729	NP_004720	O96006	ZBED1_HUMAN	Homo sapiens zinc finger, BED-type containing 1 (ZBED1), transcript variant 2, mRNA.	644						nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity			endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				ACAGAAACACCTGCTCGTCCA	0.682000														89			25		6.32553e-13	7.83728e-13	1	1	0
ITIH1	3697	broad.mit.edu	37	3	52811745	52811745	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52811745C>T	uc003dfs.3	+	0	144	c.114C>T	c.(112-114)agC>agT	p.S38S	ITIH1_uc010hmn.2_Non-coding_Transcript|ITIH1_uc021wzf.1_5'Flank|ITIH1_uc021wzg.1_5'Flank|ITIH1_uc021wzh.1_5'Flank	NM_002215	NP_002206	P19827	ITIH1_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain 1 (ITIH1), transcript variant 1, mRNA.	38	VIT.				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		CCAAGAGCAGCGAGGTATATG	0.632000														28			4		0	0	1	0	0
APPL1	26060	broad.mit.edu	37	3	57303661	57303661	+	Silent	SNP	G	A	A	rs146152896		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:57303661G>A	uc003dio.3	+	21	2223	c.2076G>A	c.(2074-2076)caG>caA	p.Q692Q	ASB14_uc003dip.1_Intron|ASB14_uc003diq.3_Intron	NM_012096	NP_036228	Q9UKG1	DP13A_HUMAN	Homo sapiens adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1 (APPL1), mRNA.	692					apoptosis|cell cycle|cell proliferation|insulin receptor signaling pathway|regulation of apoptosis|regulation of establishment of protein localization in plasma membrane|regulation of glucose import	cytosol|early endosome membrane|microsome|nucleus|vesicle membrane	protein kinase B binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(10)|liver(2)|lung(4)|prostate(2)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)		GCAGTAGCCAGTCAGAAGAGA	0.443000														99			7		0	0	1	0	0
CCDC37	348807	broad.mit.edu	37	3	126138971	126138971	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:126138971G>T	uc010hsg.1	+	9	1043	c.984G>T	c.(982-984)tgG>tgT	p.W328C	CCDC37_uc003eiu.1_Missense_Mutation_p.W327C	NM_182628	NP_872434	Q494V2	CCD37_HUMAN	Homo sapiens coiled-coil domain containing 37 (CCDC37), mRNA.	327										NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		AGAAGCCCTGGAGGTTTCTGC	0.652000														12			16		6.72482e-11	8.1643e-11	1	1	0
PCDHAC2	56134	broad.mit.edu	37	5	140222793	140222793	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140222793C>T	uc003lhs.2	+	0	1887	c.1887C>T	c.(1885-1887)ggC>ggT	p.G629G	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_Silent_p.G629G	NM_018911	NP_061734	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 8 (PCDHA8), transcript variant 1, mRNA.	640	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.D629N(1)		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)			TGTACACGGGCGAGATCAGCA	0.652000														113			8		0	0	1	0	0
TESPA1	9840	broad.mit.edu	37	12	55356262	55356262	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:55356262G>A	uc010spd.1	-	8	1553	c.1420C>T	c.(1420-1422)Cgt>Tgt	p.R474C	TESPA1_uc001sgl.3_Missense_Mutation_p.R336C|TESPA1_uc001sgm.3_Missense_Mutation_p.R221C|TESPA1_uc010spb.1_Missense_Mutation_p.R221C|TESPA1_uc010spc.1_Missense_Mutation_p.R336C|TESPA1_uc001sgn.3_Missense_Mutation_p.R474C	NM_001136030	NP_001092285	A2RU30	K0748_HUMAN	Homo sapiens KIAA0748 (KIAA0748), mRNA.	474																	AAAGACCGACGCAGTTCTGGT	0.517000														121			75		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179553506	179553506	+	Splice_Site	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179553506C>T	uc021vsy.1	-	123	28589	c.28364_splice	c.e123-1	p.A9455_splice	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Splice_Site_p.A6116_splice|TTN_uc010fre.1_Intron	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	10382	Ig-like 77.						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)			GAGACTTCAGCTTTAAGAAAG	0.368000														17			22		0	0	1	0	0
SMC1A	8243	broad.mit.edu	37	X	53423221	53423221	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:53423221G>A	uc004dsg.3	-	17	2857	c.2788C>T	c.(2788-2790)Cta>Tta	p.L930L	SMC1A_uc011moe.2_Silent_p.L908L	NM_006306	NP_006297	Q14683	SMC1A_HUMAN	Homo sapiens structural maintenance of chromosomes 1A (SMC1A), mRNA.	930					DNA repair|cell cycle checkpoint|cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage	cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm	ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						CAGGCCTGTAGCAAGTTGTGA	0.488000														41			25		0	0	1	0	0
TAGLN3	29114	broad.mit.edu	37	3	111732374	111732374	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:111732374C>T	uc003dym.3	+	4	954	c.576C>T	c.(574-576)taC>taT	p.Y192Y	TAGLN3_uc003dyl.3_Silent_p.Y192Y|TAGLN3_uc003dyn.3_Silent_p.Y192Y|TAGLN3_uc003dyo.3_Silent_p.Y192Y	NM_001008272	NP_037391	Q9UI15	TAGL3_HUMAN	Homo sapiens transgelin 3 (TAGLN3), transcript variant 2, mRNA.	192					central nervous system development|muscle organ development					endometrium(2)|lung(5)|urinary_tract(1)	8						TGACAGGGTACGGGATGCCCA	0.567000											OREG0015708	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		41			25		0	0	1	0	0
TMEM177	80775	broad.mit.edu	37	2	120438559	120438559	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:120438559T>C	uc021vnk.1	+	0	130	c.130T>C	c.(130-132)Tgg>Cgg	p.W44R	TMEM177_uc002tme.2_Intron|TMEM177_uc010flg.1_Missense_Mutation_p.W44R|TMEM177_uc002tmc.1_Missense_Mutation_p.W44R|TMEM177_uc002tmd.2_Missense_Mutation_p.W44R|TMEM177_uc010flh.3_Missense_Mutation_p.W44R	NM_030577	NP_085054	Q53S58	TM177_HUMAN	Homo sapiens transmembrane protein 177 (TMEM177), transcript variant 2, mRNA.	44						integral to membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	13	Colorectal(110;0.196)					CGTGGTCCAATGGCTCTACCA	0.582000														105			9		0	0	1	0	0
TTC4	7268	broad.mit.edu	37	1	55182370	55182370	+	Missense_Mutation	SNP	A	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:55182370A>T	uc001cxv.3	+	1	374	c.242A>T	c.(241-243)gAt>gTt	p.D81V	HEATR8_uc001cxq.3_Non-coding_Transcript|TTC4_uc001cxx.4_Missense_Mutation_p.D70V			O95801	TTC4_HUMAN	Homo sapiens tetratricopeptide repeat domain 4 (TTC4), mRNA.	70							binding			breast(2)|endometrium(3)|kidney(1)|lung(2)|stomach(1)	9						ATTATTTTTGATGAGGAGCGT	0.398000														25			16		0	0	1	0	0
ITGB3	3690	broad.mit.edu	37	17	45361952	45361952	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:45361952C>T	uc002ilj.3	+	3	525	c.505C>T	c.(505-507)Cga>Tga	p.R169*	ITGB3_uc002ili.1_Nonsense_Mutation_p.R169*|ITGB3_uc010wkr.1_Non-coding_Transcript	NM_000212	NP_000203	P05106	ITB3_HUMAN	Homo sapiens integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61) (ITGB3), mRNA.	169	VWFA.		R -> Q (in alloantigen HPA-4B; dbSNP:rs5917).		activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development	alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane	cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding	p.R169Q(1)		breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	39					Abciximab(DB00054)|Tirofiban(DB00775)	CACCCAGATGCGAAAGCTCAC	0.527000														68			40		0	0	1	0	0
THSD7A	221981	broad.mit.edu	37	7	11676125	11676125	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:11676125C>T	uc021zzo.1	-	1	906	c.654G>A	c.(652-654)acG>acA	p.T218T	THSD7A_uc021zzn.1_Silent_p.T218T	NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	Homo sapiens thrombospondin, type I, domain containing 7A (THSD7A), mRNA.	218	TSP type-1 2.					integral to membrane		p.R217R(1)		NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		CCACATGACGCGTCCGGTGCT	0.612000										HNSCC(18;0.044)				23			9		0	0	1	0	0
PTGFR	5737	broad.mit.edu	37	1	78958942	78958942	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:78958942C>A	uc001din.3	+	1	780	c.514C>A	c.(514-516)Ctt>Att	p.L172I	PTGFR_uc001dim.3_Missense_Mutation_p.L172I	NM_000959	NP_000950	P43088	PF2R_HUMAN	Homo sapiens prostaglandin F receptor (FP) (PTGFR), transcript variant 1, mRNA.	172					parturition	extracellular region|integral to plasma membrane	prostaglandin F receptor activity			breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287)	GCTGCCCATCCTTGGACATCG	0.373000														182			14		2.32078e-09	2.76369e-09	1	1	0
HIVEP1	3096	broad.mit.edu	37	6	12123223	12123223	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:12123223C>A	uc003nac.3	+	3	3374	c.3195C>A	c.(3193-3195)ggC>ggA	p.G1065G	HIVEP1_uc011diq.2_Non-coding_Transcript	NM_002114	NP_002105	P15822	ZEP1_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 1 (HIVEP1), mRNA.	1065					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				ATGCTCTGGGCTGTAATCCCA	0.403000														61			27		1.50538e-07	1.73825e-07	1	1	0
CNPY1	285888	broad.mit.edu	37	7	155301617	155301617	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:155301617G>A	uc003wmc.1	-	1	261	c.116C>T	c.(115-117)tCt>tTt	p.S39F		NM_001103176	NP_001096646	Q3B7I2	CNPY1_HUMAN	Homo sapiens canopy 1 homolog (zebrafish) (CNPY1), mRNA.	39										breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	8	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		GTAAGCATCAGAATAAAAATA	0.368000														40			57		0	0	1	0	0
THBS1	7057	broad.mit.edu	37	15	39880839	39880839	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:39880839C>T	uc001zkh.3	+	9	1763	c.1584C>T	c.(1582-1584)ggC>ggT	p.G528G	THBS1_uc010bbi.3_5'UTR	NM_003246	NP_003237	P07996	TSP1_HUMAN	Homo sapiens thrombospondin 1 (THBS1), mRNA.	528	TSP type-1 3.				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of cGMP-mediated signaling|negative regulation of caspase activity|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	AGTTTGGAGGCAAGGACTGCG	0.547000														23			6		0	0	1	0	0
CMPK1	51727	broad.mit.edu	37	1	47842396	47842396	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:47842396G>T	uc001cri.3	+	5	815	c.666G>T	c.(664-666)caG>caT	p.Q222H	CMPK1_uc010omp.2_Missense_Mutation_p.Q173H|CMPK1_uc010omq.2_Non-coding_Transcript	NM_016308	NP_057392	P30085	KCY_HUMAN	Homo sapiens cytidine monophosphate (UMP-CMP) kinase 1, cytosolic (CMPK1), transcript variant 1, mRNA.	190					nucleobase, nucleoside and nucleotide interconversion	cytosol|nucleus	ATP binding|cytidylate kinase activity|nucleoside phosphate kinase activity|uridine kinase activity			endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|stomach(2)	8					Gemcitabine(DB00441)	AAGTTGTGCAGATTTTTGACA	0.318000														31			6		0.00198382	0.00208369	1	1	0
MYL1	4632	broad.mit.edu	37	2	211159037	211159037	+	Missense_Mutation	SNP	C	T	T	rs139030210		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:211159037C>T	uc002vec.3	-	3	539	c.410G>A	c.(409-411)cGt>cAt	p.R137H	MYL1_uc002veb.3_Missense_Mutation_p.R93H	NM_079420	NP_524144	P05976	MYL1_HUMAN	Homo sapiens myosin, light chain 1, alkali; skeletal, fast (MYL1), transcript variant 1f, mRNA.	137	EF-hand 2.				muscle filament sliding|muscle organ development	cytosol|muscle myosin complex|sarcomere	calcium ion binding|structural constituent of muscle			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)	16				Epithelial(149;0.00573)|Lung(261;0.0422)|LUSC - Lung squamous cell carcinoma(261;0.0444)|all cancers(144;0.057)		GTCAAAGACACGCAGACCCTC	0.463000														36			24		0	0	1	0	0
VTI1A	143187	broad.mit.edu	37	10	114298078	114298078	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:114298078C>T	uc001kzz.3	+	4	792	c.416C>T	c.(415-417)gCa>gTa	p.A139V	VTI1A_uc001kzy.3_Missense_Mutation_p.A139V	NM_145206	NP_660207	Q96AJ9	VTI1A_HUMAN	Homo sapiens vesicle transport through interaction with t-SNAREs homolog 1A (yeast) (VTI1A), mRNA.	139					intracellular protein transport|retrograde transport, endosome to Golgi	SNARE complex	SNAP receptor activity|protein transporter activity		VTI1A/TCF7L2(8)	breast(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6		Colorectal(252;0.0314)|Breast(234;0.183)		Epithelial(162;0.0126)|all cancers(201;0.0487)		TACCAAATAGCAGTGGAAACC	0.438000			T	TCF7L2	colorectal									61			27		0	0	1	0	0
KIF19	124602	broad.mit.edu	37	17	72339248	72339248	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:72339248C>T	uc002jkm.4	+	4	543	c.405C>T	c.(403-405)atC>atT	p.I135I	KIF19_uc002jkj.2_Silent_p.I135I|KIF19_uc002jkk.2_Silent_p.I135I|KIF19_uc002jkl.2_Silent_p.I135I	NM_153209	NP_694941	Q2TAC6	KIF19_HUMAN	Homo sapiens kinesin family member 19 (KIF19), mRNA.	135	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						TCCGTGCCATCGAGGAGACCA	0.597000														21			11		0	0	1	0	0
ARID2	196528	broad.mit.edu	37	12	46246205	46246205	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:46246205G>T	uc001ros.1	+	14	4299	c.4299G>T	c.(4297-4299)gaG>gaT	p.E1433D	ARID2_uc001ror.3_Missense_Mutation_p.E1433D|ARID2_uc009zkg.1_Missense_Mutation_p.E889D|ARID2_uc009zkh.1_Missense_Mutation_p.E1060D|ARID2_uc001rou.1_Missense_Mutation_p.E767D	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	Homo sapiens AT rich interactive domain 2 (ARID, RFX-like) (ARID2), mRNA.	1433					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		GTATACAGGAGGCTTCAAATG	0.423000			"""N, S, F"""		hepatocellular carcinoma									116			11		1.08611e-07	1.25606e-07	1	1	0
GIGYF1	64599	broad.mit.edu	37	7	100280061	100280061	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100280061G>A	uc003uwg.1	-	20	3654	c.2645C>T	c.(2644-2646)aCg>aTg	p.T882M		NM_022574	NP_072096	O75420	PERQ1_HUMAN	Homo sapiens GRB10 interacting GYF protein 1 (GIGYF1), mRNA.	882								p.T882M(2)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					TTCTTCCTCCGTCTTTTTGCG	0.617000														22			21		0	0	1	0	0
ALMS1	7840	broad.mit.edu	37	2	73677140	73677140	+	Silent	SNP	T	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:73677140T>A	uc002sje.1	+	7	3594	c.3483T>A	c.(3481-3483)acT>acA	p.T1161T	ALMS1_uc002sjf.1_Silent_p.T1119T|ALMS1_uc002sjg.3_Silent_p.T549T|ALMS1_uc002sjh.1_Silent_p.T549T	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Homo sapiens Alstrom syndrome 1 (ALMS1), mRNA.	1161	34 X 47 AA approximate tandem repeat.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						TGCCAGGTACTCATATACCTG	0.463000														180			19		0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126355525	126355525	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:126355525G>T	uc003ifj.4	+	6	7144	c.7144G>T	c.(7144-7146)Gat>Tat	p.D2382Y	FAT4_uc011cgp.2_Missense_Mutation_p.D680Y	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	2382	Cadherin 23.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AACTGGAACAGATGTTTTATT	0.368000														63			31		1.88708e-17	2.40588e-17	1	1	0
ZNF434	54925	broad.mit.edu	37	16	3434792	3434792	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:3434792G>A	uc002cux.4	-	5	1157	c.898C>T	c.(898-900)Cgg>Tgg	p.R300W	ZNF434_uc010uwx.2_Missense_Mutation_p.R12W|ZNF434_uc002cuy.4_Missense_Mutation_p.R12W|ZNF434_uc002cuz.3_Missense_Mutation_p.R89W|ZNF434_uc010uwy.1_Missense_Mutation_p.R12W|ZNF434_uc010uwz.1_Missense_Mutation_p.R300W|ZNF434_uc010uxa.1_Missense_Mutation_p.R89W	NM_017810	NP_060280	Q9NX65	ZN434_HUMAN	Homo sapiens zinc finger protein 434 (ZNF434), mRNA.	89					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						TCTGGGGTCCGCAGAAAACCC	0.502000														156			84		0	0	1	0	0
SMARCA4	6597	broad.mit.edu	37	19	11135027	11135027	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:11135027C>T	uc010dxp.3	+	21	3354	c.2994C>T	c.(2992-2994)tgC>tgT	p.C998C	SMARCA4_uc010dxo.3_Silent_p.C998C|SMARCA4_uc002mqf.4_Silent_p.C998C|SMARCA4_uc002mqg.1_Silent_p.C998C|SMARCA4_uc010dxq.3_Silent_p.C998C|SMARCA4_uc010dxr.3_Silent_p.C998C|SMARCA4_uc002mqj.4_Silent_p.C998C|SMARCA4_uc010dxs.3_Silent_p.C998C|SMARCA4_uc010dxt.1_Silent_p.C218C|SMARCA4_uc002mqh.4_Silent_p.C121C|SMARCA4_uc002mqi.1_Silent_p.C201C	NM_001128844	NP_003063	P51532	SMCA4_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 (SMARCA4), transcript variant 2, mRNA.	998					chromatin remodeling|negative regulation of S phase of mitotic cell cycle|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex|WINAC complex|nBAF complex|npBAF complex|nuclear chromatin	ATP binding|DNA binding|DNA-dependent ATPase activity|androgen receptor binding|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				TCATCAAGTGCGACATGTCTG	0.622000			"""F, N, Mis"""		NSCLC									25			7		0	0	1	0	0
ZFPL1	7542	broad.mit.edu	37	11	64852626	64852626	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:64852626G>A	uc001ocq.1	+	2	307	c.142G>A	c.(142-144)Gac>Aac	p.D48N	CDCA5_uc001ocp.2_5'Flank|ZFPL1_uc009yqa.3_Missense_Mutation_p.D48N|ZFPL1_uc010rnx.2_Missense_Mutation_p.D48N	NM_006782	NP_006773	O95159	ZFPL1_HUMAN	Homo sapiens zinc finger protein-like 1 (ZFPL1), mRNA.	48					regulation of transcription, DNA-dependent|vesicle-mediated transport	Golgi apparatus|integral to membrane|nucleus	DNA binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11						CCAAGATAGCGACTACAACCC	0.602000														31			15		0	0	1	0	0
NRK	203447	broad.mit.edu	37	X	105193586	105193586	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:105193586C>A	uc004emd.3	+	26	4673	c.4370C>A	c.(4369-4371)cCa>cAa	p.P1457Q	NRK_uc011msi.2_Intron	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN	Homo sapiens Nik related kinase (NRK), mRNA.	1458	CNH.						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						ATCATTATACCACAGAATATC	0.378000										HNSCC(51;0.14)				43			20		1.01871e-10	1.23424e-10	1	1	0
SCUBE3	222663	broad.mit.edu	37	6	35200674	35200674	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:35200674C>T	uc003okf.1	+	4	523	c.517C>T	c.(517-519)Cgg>Tgg	p.R173W	SCUBE3_uc003okg.1_Missense_Mutation_p.R172W|SCUBE3_uc003okh.1_Missense_Mutation_p.R44W	NM_152753	NP_689966	Q8IX30	SCUB3_HUMAN	Homo sapiens signal peptide, CUB domain, EGF-like 3 (SCUBE3), mRNA.	173	EGF-like 4.				protein heterooligomerization|protein homooligomerization	cell surface|extracellular region	calcium ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	37						CCACATTTGCCGGGAGACACC	0.493000														84			37		0	0	1	0	0
HMGB2	3148	broad.mit.edu	37	4	174253297	174253297	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:174253297T>C	uc011ckc.1	-	3	684	c.564A>G	c.(562-564)gaA>gaG	p.E188E	HMGB2_uc003ita.3_Silent_p.E188E|HMGB2_uc003itb.2_Silent_p.E188E	NM_001130689	NP_002120	P26583	HMGB2_HUMAN	Homo sapiens high mobility group box 2 (HMGB2), transcript variant 3, mRNA.	188	Asp/Glu-rich (acidic).				DNA fragmentation involved in apoptotic nuclear change|DNA topological change|V(D)J recombination|base-excision repair, DNA ligation|cell chemotaxis|cellular response to lipopolysaccharide|negative regulation of transcription, DNA-dependent|nucleosome assembly|phosphatidylinositol-mediated signaling|positive regulation of DNA binding|positive regulation of endothelial cell proliferation|positive regulation of erythrocyte differentiation|positive regulation of megakaryocyte differentiation|positive regulation of nuclease activity|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome|extracellular space|nucleolus|nucleoplasm|perinuclear region of cytoplasm|protein complex	DNA bending activity|RAGE receptor binding|chemoattractant activity|damaged DNA binding|double-stranded DNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding|transcription regulatory region DNA binding	p.P187S(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(3)	14		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		cctcctcatcttctggttcgt	0.458000														91			9		0	0	1	0	0
LTN1	26046	broad.mit.edu	37	21	30330708	30330708	+	Splice_Site	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:30330708C>A	uc002ymr.2	-	14	2898	c.2885_splice	c.e14+1	p.S962_splice		NM_015565	NP_056380	O94822	LTN1_HUMAN	Homo sapiens listerin E3 ubiquitin protein ligase 1 (LTN1), mRNA.	916							ligase activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						AAAAGGTTACCTGTTGATATC	0.378000														88			57		1.88225e-35	2.4954e-35	1	1	0
DNMT3B	1789	broad.mit.edu	37	20	31386361	31386361	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:31386361C>T	uc002wyc.3	+	14	1907	c.1586C>T	c.(1585-1587)cCg>cTg	p.P529L	DNMT3B_uc010ztx.1_Non-coding_Transcript|DNMT3B_uc010zty.1_Non-coding_Transcript|DNMT3B_uc002wyd.3_Missense_Mutation_p.P509L|DNMT3B_uc002wye.3_Missense_Mutation_p.P509L|DNMT3B_uc010ztz.2_Missense_Mutation_p.P467L|DNMT3B_uc010zua.2_Missense_Mutation_p.P433L|DNMT3B_uc010gee.3_Non-coding_Transcript|DNMT3B_uc010gef.3_Non-coding_Transcript|DNMT3B_uc002wyf.3_Missense_Mutation_p.P521L|DNMT3B_uc002wyg.3_Missense_Mutation_p.P228L|DNMT3B_uc010geg.3_5'Flank|DNMT3B_uc010geh.3_5'Flank	NM_006892	NP_008823	Q9UBC3	DNM3B_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 3 beta (DNMT3B), transcript variant 1, mRNA.	529	ADD.				negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ATGTGTCTCCCGCAGCGCTGT	0.627000														39			8		0	0	1	0	0
PKD1L2	114780	broad.mit.edu	37	16	81232505	81232505	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:81232505G>T	uc002fgh.1	-	6	1305	c.1305C>A	c.(1303-1305)acC>acA	p.T435T	PKD1L2_uc002fgj.3_Silent_p.T435T	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	Homo sapiens polycystic kidney disease 1-like 2 (PKD1L2), transcript variant 1, mRNA.	435	REJ.				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						AGATTGTAGAGGTGGTGGTGT	0.567000														164			15		0.00400662	0.00419118	1	1	0
OR4C15	81309	broad.mit.edu	37	11	55321882	55321882	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:55321882C>T	uc010rig.2	+	0	100	c.100C>T	c.(100-102)Ctt>Ttt	p.L34F		NM_001001920	NP_001001920	Q8NGM1	OR4CF_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 15 (OR4C15), mRNA.	0					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						GCAAATTTTCCTTTGTCCTAA	0.368000										HNSCC(20;0.049)				105			51		0	0	1	0	0
EIF4E	1977	broad.mit.edu	37	4	99812406	99812406	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:99812406G>T	uc003hue.2	-	2	1726	c.203C>A	c.(202-204)aCt>aAt	p.T68N	EIF4E_uc011cea.1_Missense_Mutation_p.T88N|EIF4E_uc011ceb.1_Missense_Mutation_p.T68N|EIF4E_uc011cec.1_Missense_Mutation_p.T68N	NM_001968	NP_001959	P06730	IF4E_HUMAN	Homo sapiens eukaryotic translation initiation factor 4E (EIF4E), transcript variant 1, mRNA.	68					G1/S transition of mitotic cell cycle|insulin receptor signaling pathway|interspecies interaction between organisms|mRNA export from nucleus|nuclear-transcribed mRNA poly(A) tail shortening|positive regulation of mitotic cell cycle|regulation of translation	RNA-induced silencing complex|cytoplasmic mRNA processing body|cytosol|eukaryotic translation initiation factor 4F complex|mRNA cap binding complex	RNA cap binding|protein binding|translation initiation factor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)	13				OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)|LUSC - Lung squamous cell carcinoma(721;0.00227)		GTCTTCAACAGTATCAAACTT	0.318000														31			23		1.77063e-15	2.23094e-15	1	1	0
UTP20	27340	broad.mit.edu	37	12	101702006	101702006	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:101702006G>A	uc001tia.1	+	17	2195	c.2039G>A	c.(2038-2040)cGc>cAc	p.R680H		NM_014503	NP_055318	O75691	UTP20_HUMAN	Homo sapiens UTP20, small subunit (SSU) processome component, homolog (yeast) (UTP20), mRNA.	680					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						GCTATATTACGCCAGGCAGAA	0.418000														37			28		0	0	1	0	0
DAB2IP	153090	broad.mit.edu	37	9	124522547	124522547	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:124522547C>T	uc004bln.3	+	5	984	c.915C>T	c.(913-915)cgC>cgT	p.R305R	DAB2IP_uc004blo.3_Silent_p.R209R	NM_032552	NP_115941	Q5VWQ8	DAB2P_HUMAN	Homo sapiens DAB2 interacting protein (DAB2IP), transcript variant 1, mRNA.	333					activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|Ras GTPase activator activity|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|signaling adaptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						TCAAGGCGCGCTACCAAACCA	0.632000														18			9		0	0	1	0	0
WDR72	256764	broad.mit.edu	37	15	53957930	53957930	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:53957930G>A	uc002acj.2	-	13	1843	c.1801C>T	c.(1801-1803)Cga>Tga	p.R601*	WDR72_uc010bfi.1_Nonsense_Mutation_p.R601*	NM_182758	NP_877435	Q3MJ13	WDR72_HUMAN	Homo sapiens WD repeat domain 72 (WDR72), mRNA.	601										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		AGAATAATTCGTGCTCTTTCT	0.383000														42			17		0	0	1	0	0
ABCB6	10058	broad.mit.edu	37	2	220078891	220078891	+	Silent	SNP	G	A	A	rs144749234		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:220078891G>A	uc002vkc.2	-	7	3183	c.1404C>T	c.(1402-1404)gcC>gcT	p.A468A	ABCB6_uc010fwe.2_Silent_p.A422A|ABCB6_uc010zku.1_Non-coding_Transcript	NM_005689	NP_005680	Q9NP58	ABCB6_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 6 (ABCB6), nuclear gene encoding mitochondrial protein, mRNA.	468	ABC transmembrane type-1.				cadmium ion transmembrane transport|cellular iron ion homeostasis|detoxification of cadmium ion|porphyrin biosynthetic process	ATP-binding cassette (ABC) transporter complex|Golgi apparatus|integral to mitochondrial outer membrane|plasma membrane|vacuolar membrane	ATP binding|efflux transmembrane transporter activity|heme binding|heme-transporting ATPase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	34		Renal(207;0.0474)		Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CGTAACTCTCGGCGTTGTAAT	0.488000														58			28		0	0	1	0	0
FAM86C1	55199	broad.mit.edu	37	11	71507088	71507088	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:71507088C>T	uc001oqv.4	+	3	313	c.287C>T	c.(286-288)tCg>tTg	p.S96L	FAM86C1_uc009ysr.3_Missense_Mutation_p.S89L|FAM86C1_uc001oqw.4_Missense_Mutation_p.S62L|FAM86C1_uc009yss.3_Non-coding_Transcript|FAM86C1_uc010rqq.2_Non-coding_Transcript|BC073927_uc001oqx.1_Intron	NM_018172	NP_060642	Q9NVL1	FA86C_HUMAN	Homo sapiens family with sequence similarity 86, member C1 (FAM86C1), transcript variant 1, mRNA.	96										lung(1)	1						CAGAAGCCATCGTGTCGCTGG	0.602000														53			35		0	0	1	0	0
NEMF	9147	broad.mit.edu	37	14	50251694	50251694	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:50251694C>T	uc010anj.1	-	31	3170	c.3102G>A	c.(3100-3102)atG>atA	p.M1034I	NEMF_uc001wwz.3_Missense_Mutation_p.M234I|NEMF_uc001wxa.3_Missense_Mutation_p.M314I|NEMF_uc001wxc.3_Missense_Mutation_p.M1034I|NEMF_uc010tqi.2_Missense_Mutation_p.M1013I|NEMF_uc001wxe.2_Missense_Mutation_p.M992I	NM_004713	NP_004704	O60524	NEMF_HUMAN	Homo sapiens nuclear export mediator factor (NEMF), mRNA.	1034						cytoplasm|nucleus				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(13)|liver(1)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	36						CTTTGGAATGCATGAAACTAT	0.333000														71			32		0	0	1	0	0
CHD4	1108	broad.mit.edu	37	12	6702687	6702687	+	Silent	SNP	G	A	A	rs112803905		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:6702687G>A	uc001qpo.3	-	15	2573	c.2409C>T	c.(2407-2409)gtC>gtT	p.V803V	CHD4_uc001qpn.3_Silent_p.V796V|CHD4_uc001qpp.3_Silent_p.V800V	NM_001273	NP_001264	Q14839	CHD4_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 4 (CHD4), mRNA.	803	Helicase ATP-binding.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	NuRD complex|microtubule organizing center	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						CATAGGTTACGACATACATGT	0.527000														61			40		0	0	1	0	0
GOT1	2805	broad.mit.edu	37	10	101180553	101180553	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:101180553G>A	uc001kpr.3	-	1	336	c.128C>T	c.(127-129)aCg>aTg	p.T43M	GOT1_uc009xwi.2_Missense_Mutation_p.T43M	NM_002079	NP_002070	P17174	AATC_HUMAN	Homo sapiens glutamic-oxaloacetic transaminase 1, soluble (aspartate aminotransferase 1) (GOT1), mRNA.	43					aspartate catabolic process|cellular response to insulin stimulus|gluconeogenesis|response to glucocorticoid stimulus	cytosol	L-aspartate:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding	p.T43T(2)		endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)	16		Ovarian(717;0.028)|Colorectal(252;0.234)		Epithelial(162;4.76e-10)|all cancers(201;3.84e-08)	L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	GCAGTCATCCGTGCGATATGC	0.468000														66			39		0	0	1	0	0
WIPF2	147179	broad.mit.edu	37	17	38420925	38420925	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:38420925G>A	uc002hug.1	+	4	737	c.497G>A	c.(496-498)aGc>aAc	p.S166N	WIPF2_uc002huh.1_Missense_Mutation_p.S16N|WIPF2_uc010cww.1_Missense_Mutation_p.S16N|WIPF2_uc002hui.1_Missense_Mutation_p.S166N|WIPF2_uc010cwx.1_Intron|WIPF2_uc010cwy.1_Missense_Mutation_p.S166N	NM_133264	NP_573571	Q8TF74	WIPF2_HUMAN	Homo sapiens WAS/WASL interacting protein family, member 2 (WIPF2), mRNA.	166						cytoplasm|cytoskeleton	actin binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	30						AATACCACCAGCAGTACGGGC	0.637000										HNSCC(43;0.11)				68			33		0	0	1	0	0
LAMA5	3911	broad.mit.edu	37	20	60887095	60887095	+	Nonsense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:60887095G>T	uc002ycq.3	-	69	9583	c.9516C>A	c.(9514-9516)tgC>tgA	p.C3172*	LAMA5_uc021wfw.1_Nonsense_Mutation_p.C3172*	NM_005560	NP_005551	O15230	LAMA5_HUMAN	Homo sapiens laminin, alpha 5 (LAMA5), mRNA.	3172	Laminin G-like 3.				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)	GGGACACCTGGCATAGCCCAT	0.662000														45			4		0.014758	0.0151755	1	1	0
SLC12A7	10723	broad.mit.edu	37	5	1065545	1065545	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:1065545G>A	uc003jbu.3	-	17	2356	c.2290C>T	c.(2290-2292)Ctg>Ttg	p.L764L	MIR4635_uc021xvy.1_5'Flank	NM_006598	NP_006589	Q9Y666	S12A7_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 7 (SLC12A7), mRNA.	764					potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	GAGACCACCAGCTGGCAGAAG	0.632000														27			25		0	0	1	0	0
MAPK1	5594	broad.mit.edu	37	22	22143097	22143097	+	Splice_Site	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:22143097C>T	uc002zvn.3	-	5	850	c.610_splice	c.e5-1	p.G204_splice	MAPK1_uc002zvo.3_Splice_Site_p.G204_splice|MAPK1_uc010gtk.1_Splice_Site_p.G204_splice	NM_002745	NP_620407	P28482	MK01_HUMAN	Homo sapiens mitogen-activated protein kinase 1 (MAPK1), transcript variant 1, mRNA.	204	Protein kinase.				ERK1 and ERK2 cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Ras protein signal transduction|Toll signaling pathway|activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|epidermal growth factor receptor signaling pathway|induction of apoptosis|innate immune response|insulin receptor signaling pathway|interspecies interaction between organisms|nerve growth factor receptor signaling pathway|platelet activation|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|synaptic transmission|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription, DNA-dependent	cytosol|nucleoplasm	ATP binding|DNA binding|MAP kinase activity|RNA polymerase II carboxy-terminal domain kinase activity|phosphatase binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Colorectal(54;0.105)	all_lung(157;3.89e-05)		READ - Rectum adenocarcinoma(21;0.0689)	Arsenic trioxide(DB01169)	TTGGTGTAGCCCTGCAGGAGA	0.453000														16			18		0	0	1	0	0
PLCL2	23228	broad.mit.edu	37	3	17051820	17051820	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:17051820A>G	uc011awc.2	+	2	1054	c.958A>G	c.(958-960)Aag>Gag	p.K320E	PLCL2_uc010het.1_Intron|PLCL2_uc011awd.2_Missense_Mutation_p.K202E	NM_001144382	NP_001137854	Q9UPR0	PLCL2_HUMAN	Homo sapiens phospholipase C-like 2 (PLCL2), transcript variant 1, mRNA.	328					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						CGAGGTCACAAAGGAAGAATT	0.333000														75			6		0	0	1	0	0
KCNT2	343450	broad.mit.edu	37	1	196367748	196367748	+	Silent	SNP	A	G	G	rs12738104		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:196367748A>G	uc001gtd.1	-	12	1299	c.1239T>C	c.(1237-1239)tgT>tgC	p.C413C	KCNT2_uc009wyt.1_Non-coding_Transcript|KCNT2_uc001gte.1_Silent_p.C413C|KCNT2_uc001gtf.1_Silent_p.C413C|KCNT2_uc001gtg.1_Non-coding_Transcript|KCNT2_uc009wyu.3_Silent_p.C413C|KCNT2_uc009wyv.1_Silent_p.C388C	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	Homo sapiens potassium channel, subfamily T, member 2 (KCNT2), mRNA.	413			C -> W (in dbSNP:rs12738104).			voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						CATACAAAGGACAATTTGGAG	0.323000														38			31		0	0	1	0	0
EXO1	9156	broad.mit.edu	37	1	242024777	242024777	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:242024777C>T	uc021plj.1	+	7	1328	c.1014C>T	c.(1012-1014)atC>atT	p.I338I	EXO1_uc001hzh.3_Silent_p.I338I|EXO1_uc009xgq.3_Silent_p.I338I|EXO1_uc021plk.1_Silent_p.I338I	NM_006027	NP_569082	Q9UQ84	EXO1_HUMAN	Homo sapiens exonuclease 1 (EXO1), transcript variant 1, mRNA.	338	Interaction with MSH3.				meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	45	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			TTGAACAGATCGATGACTACA	0.343000								Editing and processing nucleases						63			6		0	0	1	0	0
ZBTB11	27107	broad.mit.edu	37	3	101370464	101370464	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:101370464C>T	uc003dve.4	-	10	2938	c.2708G>A	c.(2707-2709)cGc>cAc	p.R903H		NM_014415	NP_055230	O95625	ZBT11_HUMAN	Homo sapiens zinc finger and BTB domain containing 11 (ZBTB11), mRNA.	903					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R903H(2)		breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TCTGACATGGCGTTTTAGAGA	0.423000														68			5		0	0	1	0	0
RTN4RL2	349667	broad.mit.edu	37	11	57235240	57235240	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:57235240C>T	uc010rjt.2	+	1	190	c.190C>T	c.(190-192)Cga>Tga	p.R64*		NM_178570	NP_848665	Q86UN3	R4RL2_HUMAN	Homo sapiens reticulon 4 receptor-like 2 (RTN4RL2), mRNA.	64					axon regeneration	anchored to plasma membrane	receptor activity			NS(1)|endometrium(1)|large_intestine(2)|lung(2)	6						CAGCACTCAGCGACTCTTCCT	0.622000														60			40		0	0	1	0	0
SNN	8303	broad.mit.edu	37	16	11769944	11769944	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:11769944C>T	uc021tda.1	+	0	29	c.29C>T	c.(28-30)aCg>aTg	p.T10M	SNN_uc002dbf.3_Missense_Mutation_p.T10M	NM_003498	NP_003489	O75324	SNN_HUMAN	Homo sapiens stannin (SNN), mRNA.	10					response to abiotic stimulus|response to stress	integral to membrane|mitochondrial outer membrane				endometrium(1)	1						AGCCCCACCACGGGCGTGGTC	0.637000														21			14		0	0	1	0	0
PARP14	54625	broad.mit.edu	37	3	122447187	122447187	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:122447187G>A	uc003efq.4	+	16	5208	c.5149G>A	c.(5149-5151)Gtc>Atc	p.V1717I	PARP14_uc010hrk.3_Non-coding_Transcript|PARP14_uc003efr.3_Missense_Mutation_p.V1434I	NM_017554	NP_060024	Q460N5	PAR14_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 14 (PARP14), mRNA.	1717	PARP catalytic.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		CTATTTTGCTGTCAATGCCAA	0.373000														51			34		0	0	1	0	0
INSRR	3645	broad.mit.edu	37	1	156819161	156819161	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:156819161A>G	uc010pht.2	-	5	1620	c.1321T>C	c.(1321-1323)Tac>Cac	p.Y441H	NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron	NM_014215	NP_055030	P14616	INSRR_HUMAN	Homo sapiens insulin receptor-related receptor (INSRR), mRNA.	441					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					AAGGCGAAGTAGATCTTGCCC	0.607000														123			10		0	0	1	0	0
TECTA	7007	broad.mit.edu	37	11	120980054	120980054	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:120980054C>T	uc010rzo.2	+	2	333	c.333C>T	c.(331-333)atC>atT	p.I111I		NM_005422	NP_005413	O75443	TECTA_HUMAN	Homo sapiens tectorin alpha (TECTA), mRNA.	111	NIDO.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		p.E110K(2)	TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GAGGCGAGATCTATTACAGAG	0.507000														32			18		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179413090	179413090	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179413090A>G	uc021vsy.1	-	287	85784	c.85559T>C	c.(85558-85560)tTc>tCc	p.F28520S	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.F22215S|TTN_uc021vta.1_Missense_Mutation_p.F22148S|TTN_uc021vtb.1_Missense_Mutation_p.F22023S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	29447	Ig-like 132.						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)			AGAAACACGGAAATAGTACGG	0.478000														151			15		0	0	1	0	0
ABLIM2	84448	broad.mit.edu	37	4	7994606	7994606	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:7994606C>T	uc003gko.3	-	15	1708	c.1565G>A	c.(1564-1566)gGc>gAc	p.G522D	ABLIM2_uc003gkk.3_Intron|ABLIM2_uc003gkl.3_Missense_Mutation_p.G250D|ABLIM2_uc003gkm.4_Missense_Mutation_p.G470D|ABLIM2_uc003gkp.3_Intron|ABLIM2_uc003gkq.3_Intron|ABLIM2_uc003gkr.3_Intron|ABLIM2_uc003gkj.4_Missense_Mutation_p.G556D	NM_001130084	NP_001123556	Q6H8Q1	ABLM2_HUMAN	Homo sapiens actin binding LIM protein family, member 2 (ABLIM2), transcript variant 2, mRNA.	522					axon guidance|cytoskeleton organization	actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus	actin binding|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1)	25						CTGGTCCAAGCCATTCTTTCC	0.552000														15			6		0	0	1	0	0
PALLD	23022	broad.mit.edu	37	4	169630277	169630277	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:169630277G>A	uc011cjx.2	+	8	1811	c.1600G>A	c.(1600-1602)Gcc>Acc	p.A534T	PALLD_uc003iru.3_Missense_Mutation_p.A534T|PALLD_uc003irv.3_Missense_Mutation_p.A152T	NM_001166108	NP_001159580	Q8WX93	PALLD_HUMAN	Homo sapiens palladin, cytoskeletal associated protein (PALLD), transcript variant 1, mRNA.	534	Ig-like C2-type 2.				cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		AACCAGCACTGCCCAGCTGGT	0.493000									Pancreatic Cancer, Familial Clustering of					39			22		0	0	1	0	0
PMS1	5378	broad.mit.edu	37	2	190718693	190718693	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:190718693G>A	uc002urh.4	+	7	1380	c.851G>A	c.(850-852)tGc>tAc	p.C284Y	PMS1_uc010zga.1_Missense_Mutation_p.C245Y|PMS1_uc010zgb.1_Missense_Mutation_p.C223Y|PMS1_uc002urk.4_Missense_Mutation_p.C245Y|PMS1_uc002uri.4_Missense_Mutation_p.C284Y|PMS1_uc010zgc.2_Missense_Mutation_p.C108Y|PMS1_uc010zgd.2_Missense_Mutation_p.C108Y|PMS1_uc002urj.3_Non-coding_Transcript|PMS1_uc010fry.1_Missense_Mutation_p.C245Y|PMS1_uc010frz.3_Intron|PMS1_uc002url.3_Missense_Mutation_p.C69Y|PMS1_uc002urm.3_Non-coding_Transcript|PMS1_uc002urn.1_5'UTR	NM_000534	NP_000525	P54277	PMS1_HUMAN	Homo sapiens PMS1 postmeiotic segregation increased 1 (S. cerevisiae) (PMS1), transcript variant 1, mRNA.	284					mismatch repair|reciprocal meiotic recombination	MutLalpha complex	ATP binding|ATPase activity|mismatched DNA binding	p.C284F(2)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)			AATCTGAAATGCCTAAAGGAA	0.289000			"""Mis, N"""			"""colorectal, endometrial, ovarian"""		Direct reversal of damage;Mismatch excision repair (MMR)						28			12		0	0	1	0	0
CCR6	1235	broad.mit.edu	37	6	167549772	167549772	+	Nonsense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:167549772T>G	uc003qvl.3	+	12	2530	c.54T>G	c.(52-54)taT>taG	p.Y18*	CCR6_uc010kkm.3_Nonsense_Mutation_p.Y18*|CCR6_uc003qvn.4_Nonsense_Mutation_p.Y18*|CCR6_uc003qvm.4_Nonsense_Mutation_p.Y18*	NM_031409	NP_113597	P51684	CCR6_HUMAN	Homo sapiens chemokine (C-C motif) receptor 6 (CCR6), transcript variant 2, mRNA.	18					cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|humoral immune response	integral to plasma membrane	C-C chemokine receptor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	14		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;8.21e-20)|BRCA - Breast invasive adenocarcinoma(81;4.55e-06)|GBM - Glioblastoma multiforme(31;0.00507)		GTGAAGATTATTTTGTGTCAG	0.413000														87			56		0	0	1	0	0
TIGD5	84948	broad.mit.edu	37	8	144681088	144681088	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:144681088G>T	uc003yyx.2	+	0	1015	c.1015G>T	c.(1015-1017)Ggc>Tgc	p.G339C	EEF1D_uc011lki.2_5'Flank|EEF1D_uc003yyv.3_5'Flank|EEF1D_uc003yyu.3_5'Flank|EEF1D_uc011lkk.2_5'Flank|EEF1D_uc003yyt.3_5'Flank|EEF1D_uc003yyr.3_5'Flank|EEF1D_uc003yys.3_5'Flank|EEF1D_uc011lkl.2_5'Flank	NM_032862	NP_116251	E7EWS2	E7EWS2_HUMAN	Homo sapiens tigger transposable element derived 5 (TIGD5), mRNA.	339					regulation of transcription, DNA-dependent	chromosome, centromeric region	DNA binding			NS(1)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1)	7	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			ATTTGTCCCAGGCGTCAAACG	0.677000														12			3		0.004672	0.00486265	1	1	0
ATP10B	23120	broad.mit.edu	37	5	160047762	160047762	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:160047762T>C	uc003lym.1	-	14	2855	c.2008A>G	c.(2008-2010)Agt>Ggt	p.S670G	ATP10B_uc010jit.1_5'UTR|ATP10B_uc003lyn.3_Missense_Mutation_p.S228G	NM_025153	NP_079429	O94823	AT10B_HUMAN	Homo sapiens ATPase, class V, type 10B (ATP10B), mRNA.	670					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCACCTCCACTGCACACAGAT	0.582000														66			6		0	0	1	0	0
USP6NL	9712	broad.mit.edu	37	10	11535183	11535183	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:11535183T>C	uc001iks.1	-	6	523	c.480A>G	c.(478-480)caA>caG	p.Q160Q	USP6NL_uc001ikt.3_Silent_p.Q143Q	NM_001080491	NP_001073960	Q92738	US6NL_HUMAN	Homo sapiens USP6 N-terminal like (USP6NL), transcript variant 2, mRNA.	143	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1)	32						CCAGGTCTATTTGTCTGATGT	0.368000														11			8		0	0	1	0	0
ZNF264	9422	broad.mit.edu	37	19	57723301	57723301	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:57723301G>A	uc002qob.3	+	3	1250	c.836G>A	c.(835-837)cGg>cAg	p.R279Q		NM_003417	NP_003408	O43296	ZN264_HUMAN	Homo sapiens zinc finger protein 264 (ZNF264), mRNA.	279					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	27		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135)		CAGCACCAGCGGATTCACAGT	0.517000														33			24		0	0	1	0	0
MAP3K15	389840	broad.mit.edu	37	X	19389497	19389497	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:19389497T>C	uc022btq.1	-	22	3260	c.3260A>G	c.(3259-3261)cAg>cGg	p.Q1087R	MAP3K15_uc004czj.2_Missense_Mutation_p.Q522R|MAP3K15_uc004czk.2_Missense_Mutation_p.Q562R|MAP3K15_uc004czi.2_Missense_Mutation_p.Q21R	NM_001001671	NP_001001671	Q6ZN16	M3K15_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 15 (MAP3K15), mRNA.	1087							ATP binding|MAP kinase kinase kinase activity|metal ion binding			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					CAGGTGAATCTGACTGATGGA	0.537000														100			12		0	0	1	0	0
B4GALNT4	338707	broad.mit.edu	37	11	373108	373108	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:373108C>T	uc001lpb.3	+	4	536	c.527C>T	c.(526-528)gCg>gTg	p.A176V		NM_178537	NP_848632	Q76KP1	B4GN4_HUMAN	Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 4 (B4GALNT4), mRNA.	176						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity	p.A176E(2)		endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ATCCACCCGGCGAGGGACGGT	0.627000														28			26		0	0	1	0	0
TTC40	54777	broad.mit.edu	37	10	134743224	134743224	+	Silent	SNP	C	T	T	rs144339867	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:134743224C>T	uc021qbc.1	-	8	1052	c.951G>A	c.(949-951)aaG>aaA	p.K317K	TTC40_uc001llt.2_Silent_p.K317K	NM_001200049	NP_001186978	Q8IYW2	CJ092_HUMAN	Homo sapiens tetratricopeptide repeat domain 40 (TTC40), mRNA.	0										breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						TTTCCATCTTCTTCAGGTCTG	0.478000														62			4		0	0	1	0	0
REXO1L1	254958	broad.mit.edu	37	8	86567355	86567355	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:86567355G>A	uc003ydl.1	-	0	551	c.464C>T	c.(463-465)aCg>aTg	p.T155M		NM_172239	NP_758439	Q8IX06	GOR_HUMAN	Homo sapiens REX1, RNA exonuclease 1 homolog (S. cerevisiae)-like 1 (REXO1L1), mRNA.	512						cytoplasm|nucleus	exonuclease activity|nucleic acid binding			endometrium(1)|lung(4)	5						CAGGCCATGCGTGGTGTAGCA	0.567000														91			11		0	0	1	0	0
IARS2	55699	broad.mit.edu	37	1	220320874	220320874	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:220320874T>G	uc001hmc.3	+	22	3040	c.2936T>G	c.(2935-2937)gTc>gGc	p.V979G		NM_018060	NP_060530	Q9NSE4	SYIM_HUMAN	Homo sapiens isoleucyl-tRNA synthetase 2, mitochondrial (IARS2), nuclear gene encoding mitochondrial protein, mRNA.	979					isoleucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|isoleucine-tRNA ligase activity			NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	AAAGTAATTGTCATGCCGACT	0.388000														61			20		0	0	1	0	0
SMARCB1	6598	broad.mit.edu	37	22	24135839	24135839	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:24135839C>A	uc002zyd.3	+	2	506	c.299C>A	c.(298-300)gCt>gAt	p.A100D	SMARCB1_uc002zyg.2_Missense_Mutation_p.A109D|SMARCB1_uc011ajb.1_Missense_Mutation_p.A100D|SMARCB1_uc002zya.3_Missense_Mutation_p.A109D|SMARCB1_uc002zyb.3_Missense_Mutation_p.A109D|SMARCB1_uc002zyc.3_Missense_Mutation_p.A100D|SMARCB1_uc002zye.1_Missense_Mutation_p.A72D|SMARCB1_uc002zyf.1_Non-coding_Transcript|SMARCB1_uc010gue.1_Intron	NM_001007468	NP_001007469	Q12824	SNF5_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 (SMARCB1), transcript variant 2, mRNA.	109					DNA integration|cell cycle|chromatin remodeling|interspecies interaction between organisms|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|retroviral genome replication|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex|nucleolus|nucleoplasm	p53 binding	p.?(2)|p.L100fs*5(1)		bone(4)|central_nervous_system(198)|endometrium(4)|haematopoietic_and_lymphoid_tissue(25)|kidney(3)|large_intestine(5)|liver(2)|lung(5)|meninges(5)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|soft_tissue(194)	458		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)				AAGTACAAGGCTGTGTCCATC	0.532000			"""D, N, F, S"""		malignant rhabdoid	malignant rhabdoid								65			35		4.34311e-12	5.33645e-12	1	1	0
GNE	10020	broad.mit.edu	37	9	36249344	36249344	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:36249344C>A	uc010mlh.3	-	1	230	c.9G>T	c.(7-9)aaG>aaT	p.K3N	GNE_uc010mlg.3_Missense_Mutation_p.K3N|GNE_uc011lpl.2_Intron|GNE_uc010mli.3_Missense_Mutation_p.K34N|GNE_uc010mlj.3_Intron	NM_005476	NP_005467	Q9Y223	GLCNE_HUMAN	Homo sapiens glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase (GNE), transcript variant 2, mRNA.	3					N-acetylneuraminate metabolic process|UDP-N-acetylglucosamine metabolic process|cell adhesion|lipopolysaccharide biosynthetic process		ATP binding|N-acylmannosamine kinase activity|UDP-N-acetylglucosamine 2-epimerase activity			endometrium(8)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			STAD - Stomach adenocarcinoma(86;0.228)			TATTTCCATTCTTCTCCATGA	0.363000														79			13		0.00010058	0.000109296	1	1	0
ZDBF2	57683	broad.mit.edu	37	2	207175566	207175566	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:207175566C>T	uc002vbp.2	+	4	6564	c.6314C>T	c.(6313-6315)gCg>gTg	p.A2105V		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA.	2105							nucleic acid binding|zinc ion binding	p.A2105V(3)		endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						TCTGCTTCAGCGCCTTTAATG	0.443000														45			25		0	0	1	0	0
POLK	51426	broad.mit.edu	37	5	74892160	74892160	+	Nonsense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:74892160G>T	uc003kdw.3	+	12	1738	c.1642G>T	c.(1642-1644)Gag>Tag	p.E548*	POLK_uc003kdx.3_Non-coding_Transcript|POLK_uc003kdy.3_Non-coding_Transcript|POLK_uc010izq.3_Nonsense_Mutation_p.E350*|POLK_uc003kec.3_Nonsense_Mutation_p.E458*|POLK_uc010izr.3_Non-coding_Transcript|POLK_uc010izs.3_Non-coding_Transcript|POLK_uc003ked.3_Intron|POLK_uc003kee.3_Intron	NM_016218	NP_057302	Q9UBT6	POLK_HUMAN	Homo sapiens polymerase (DNA directed) kappa (POLK), mRNA.	548					DNA replication|nucleotide-excision repair, DNA gap filling	nucleus	DNA-directed DNA polymerase activity|damaged DNA binding|metal ion binding			endometrium(1)|kidney(4)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	27		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)		GTGTACATTAGAGAAAACTGA	0.383000								DNA polymerases (catalytic subunits)						40			5		0.000602214	0.000641151	1	1	0
AGT	183	broad.mit.edu	37	1	230846149	230846149	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:230846149C>A	uc001hty.4	-	1	956	c.448G>T	c.(448-450)Gcc>Tcc	p.A150S	AGT_uc009xff.3_Missense_Mutation_p.A122S	NM_000029	NP_000020	P01019	ANGT_HUMAN	Homo sapiens angiotensinogen (serpin peptidase inhibitor, clade A, member 8) (AGT), mRNA.	150					G-protein signaling, coupled to cGMP nucleotide second messenger|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|blood vessel remodeling|cell-cell signaling|cellular lipid metabolic process|kidney development|low-density lipoprotein particle remodeling|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of NAD(P)H oxidase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of activation of JAK2 kinase activity|positive regulation of apoptosis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of cardiac muscle hypertrophy|positive regulation of cholesterol esterification|positive regulation of cytokine production|positive regulation of endothelial cell migration|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription, DNA-dependent|regulation of proteolysis|regulation of renal output by angiotensin|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|response to muscle activity involved in regulation of muscle adaptation	extracellular space|soluble fraction	acetyltransferase activator activity|growth factor activity|hormone activity|serine-type endopeptidase inhibitor activity|type 1 angiotensin receptor binding|type 2 angiotensin receptor binding			endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|pancreas(1)|prostate(5)	25	Breast(184;0.0735)|Ovarian(103;0.183)	all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	Aliskiren(DB01258)|Atorvastatin(DB01076)|Cilazapril(DB01340)|Irbesartan(DB01029)|Lisinopril(DB00722)|Ouabain(DB01092)|Simvastatin(DB00641)	TGGTCCAAGGCTCCCAGATAG	0.592000														60			52		3.76997e-23	4.90907e-23	1	1	0
TNRC18	84629	broad.mit.edu	37	7	5399145	5399145	+	Silent	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:5399145T>G	uc003soi.4	-	14	5066	c.4717A>C	c.(4717-4719)Aga>Cga	p.R1573R	TNRC18_uc003soj.3_5'Flank	NM_001080495	NP_001073964	O15417	TNC18_HUMAN	Homo sapiens trinucleotide repeat containing 18 (TNRC18), mRNA.	1573							DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		TGTCTCTTTCTTATCCCTGCT	0.557000														84			130		0	0	1	0	0
OR4M2	390538	broad.mit.edu	37	15	22368619	22368619	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:22368619C>A	uc010tzu.2	+	0	142	c.44C>A	c.(43-45)aCt>aAt	p.T15N	abParts_uc001yuj.2_Intron|OR4N4_uc001yua.3_Intron|OR4N4_uc001yub.1_Intron|OR4N4_uc001yuc.1_Intron	NM_001004719	NP_001004719	Q8NGB6	OR4M2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily M, member 2 (OR4M2), mRNA.	15					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L14V(1)		NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TTTGTTCTCACTGGCCTATCC	0.338000														97			69		6.72169e-28	8.84038e-28	1	1	0
RXFP1	59350	broad.mit.edu	37	4	159533502	159533502	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:159533502C>T	uc003ipz.3	+	7	931	c.668C>T	c.(667-669)tCt>tTt	p.S223F	RXFP1_uc010iqj.2_Missense_Mutation_p.S52F|RXFP1_uc010iqk.3_Missense_Mutation_p.S91F|RXFP1_uc011cja.2_Missense_Mutation_p.S142F|RXFP1_uc010iqo.3_Missense_Mutation_p.S223F|RXFP1_uc011cjb.2_Missense_Mutation_p.S169F|RXFP1_uc011cjc.2_Missense_Mutation_p.S142F|RXFP1_uc011cjd.2_Missense_Mutation_p.S142F|RXFP1_uc010iql.3_Missense_Mutation_p.S91F|RXFP1_uc011cje.2_Missense_Mutation_p.S250F|RXFP1_uc010iqm.3_Missense_Mutation_p.S190F|RXFP1_uc011cjf.2_Missense_Mutation_p.S93F|RXFP1_uc010iqn.3_Missense_Mutation_p.S169F	NM_021634	NP_067647	Q9HBX9	RXFP1_HUMAN	Homo sapiens relaxin/insulin-like family peptide receptor 1 (RXFP1), transcript variant 1, mRNA.	223						integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding	p.S223Y(2)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		GGACTAAATTCTCTTATTCTC	0.274000														14			11		0	0	1	0	0
FBXL19	54620	broad.mit.edu	37	16	30939842	30939842	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:30939842C>A	uc002eab.2	+	5	900	c.742C>A	c.(742-744)Ctc>Atc	p.L248I	FBXL19_uc002dzz.1_5'UTR|FBXL19_uc002eaa.1_Intron	NM_001099784	NP_001093254	Q6PCT2	FXL19_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 19 (FBXL19), mRNA.	248	Pro-rich.						DNA binding|zinc ion binding			breast(2)|endometrium(3)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						CGCCTGCCTCCTCCGAGGATC	0.642000														28			4		0.150653	0.152248	1	1	0
ZZEF1	23140	broad.mit.edu	37	17	3945724	3945724	+	Splice_Site	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:3945724G>A	uc002fxe.3	-	39	6370	c.6306_splice	c.e39+1	p.S2102_splice	ZZEF1_uc002fxh.3_Splice_Site_p.S416_splice|ZZEF1_uc002fxi.3_Splice_Site_p.S337_splice|ZZEF1_uc002fxj.1_Splice_Site_p.S715_splice	NM_015113	NP_055928	O43149	ZZEF1_HUMAN	Homo sapiens zinc finger, ZZ-type with EF-hand domain 1 (ZZEF1), mRNA.	2102							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						TGCCCTTACCGACTTTAAGGG	0.423000														55			42		0	0	1	0	0
USP48	84196	broad.mit.edu	37	1	22047590	22047590	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:22047590A>G	uc010odq.2	-	13	2068	c.1830T>C	c.(1828-1830)gaT>gaC	p.D610D	USP48_uc001bfa.3_Silent_p.D149D|USP48_uc001bfb.3_Silent_p.D611D|USP48_uc009vqc.3_Silent_p.D545D|USP48_uc001bfc.3_Silent_p.D611D|USP48_uc001bfe.1_Silent_p.D609D	NM_032236	NP_115612	Q86UV5	UBP48_HUMAN	Homo sapiens ubiquitin specific peptidase 48 (USP48), transcript variant 1, mRNA.	611	DUSP 2.				ubiquitin-dependent protein catabolic process	mitochondrion|nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)		CATCTTGCTCATCCAGCTGTT	0.438000														79			46		0	0	1	0	0
PRX	57716	broad.mit.edu	37	19	40902982	40902982	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:40902982C>T	uc002onr.3	-	6	1546	c.1277G>A	c.(1276-1278)gGc>gAc	p.G426D	PRX_uc002onq.3_Missense_Mutation_p.G287D|PRX_uc002ons.3_3'UTR	NM_181882	NP_870998	Q9BXM0	PRAX_HUMAN	Homo sapiens periaxin (PRX), transcript variant 2, mRNA.	426					axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			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)			CACTCCGATGCCAAGGGAGGG	0.612000														51			35		0	0	1	0	0
MED13L	23389	broad.mit.edu	37	12	116403926	116403926	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:116403926C>T	uc001tvw.3	-	28	6403	c.6348G>A	c.(6346-6348)tcG>tcA	p.S2116S		NM_015335	NP_056150	Q71F56	MD13L_HUMAN	Homo sapiens mediator complex subunit 13-like (MED13L), mRNA.	2116					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		CCTGGGGACACGATGACCAAA	0.453000														94			50		0	0	1	0	0
ERRFI1	54206	broad.mit.edu	37	1	8074335	8074335	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:8074335C>A	uc001aoz.3	-	3	573	c.324G>T	c.(322-324)gaG>gaT	p.E108D	ERRFI1_uc001apa.1_Missense_Mutation_p.E33D	NM_018948	NP_061821	Q9UJM3	ERRFI_HUMAN	Homo sapiens ERBB receptor feedback inhibitor 1 (ERRFI1), mRNA.	108					lung alveolus development|lung epithelium development|lung vasculature development|negative regulation of epidermal growth factor receptor activity|negative regulation of protein autophosphorylation|regulation of keratinocyte differentiation|response to stress|skin morphogenesis	cytoplasm|extrinsic to internal side of plasma membrane|nucleus	Rho GTPase activator activity|protein kinase binding			breast(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(3)|ovary(1)|prostate(1)|skin(2)	16	Ovarian(185;0.06)|all_lung(157;0.151)	all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.33e-70)|GBM - Glioblastoma multiforme(8;8.05e-37)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;6.9e-06)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)		CAACTTGATCCTCTTCATGTG	0.473000														167			12		0.00136819	0.00144449	1	1	0
TUBA3C	7278	broad.mit.edu	37	13	19748151	19748151	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:19748151C>T	uc009zzj.3	-	4	1310	c.1205G>A	c.(1204-1206)cGg>cAg	p.R402Q		NM_006001	NP_525125	Q13748	TBA3C_HUMAN	Homo sapiens tubulin, alpha 3c (TUBA3C), mRNA.	402					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		CACAAAGGCCCGCTTGGCATA	0.612000														101			7		0	0	1	0	0
YIF1A	10897	broad.mit.edu	37	11	66052906	66052906	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:66052906C>T	uc001ohk.4	-	5	769	c.587G>A	c.(586-588)cGc>cAc	p.R196H		NM_020470	NP_065203	O95070	YIF1A_HUMAN	Homo sapiens Yip1 interacting factor homolog A (S. cerevisiae) (YIF1A), mRNA.	196					protein transport|vesicle-mediated transport	ER-Golgi intermediate compartment|Golgi membrane|centrosome|endoplasmic reticulum membrane|integral to membrane				endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	9						CAGGTCACTGCGCACGGTGGC	0.647000														25			25		0	0	1	0	0
DOK2	9046	broad.mit.edu	37	8	21771103	21771103	+	Missense_Mutation	SNP	C	T	T	rs149394218	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:21771103C>T	uc003wzx.1	-	0	103	c.10G>A	c.(10-12)Ggg>Agg	p.G4R	DOK2_uc003wzy.1_Missense_Mutation_p.G4R|DOK2_uc003wzz.1_5'UTR|DOK2_uc010lth.1_5'UTR	NM_003974	NP_003965	O60496	DOK2_HUMAN	Homo sapiens docking protein 2, 56kDa (DOK2), mRNA.	4	PH.				blood coagulation|leukocyte migration	cytosol	identical protein binding|insulin receptor binding			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(3)|skin(1)	26				Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)		TTCACTGCCCCGTCTCCCATC	0.587000														35			23		0	0	1	0	0
TJP3	27134	broad.mit.edu	37	19	3728653	3728653	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:3728653G>A	uc010xhv.2	+	1	157	c.157G>A	c.(157-159)Ggt>Agt	p.G53S	TJP3_uc010xhs.2_Missense_Mutation_p.G34S|TJP3_uc010xht.2_5'UTR|TJP3_uc010xhu.2_Missense_Mutation_p.G43S|TJP3_uc010xhw.2_Missense_Mutation_p.G53S	NM_014428	NP_055243	O95049	ZO3_HUMAN	Homo sapiens tight junction protein 3 (zona occludens 3) (TJP3), mRNA.	34	PDZ 1.					tight junction	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		AGACCGGCCCGGTGGATCCAT	0.642000														26			18		0	0	1	0	0
TES	26136	broad.mit.edu	37	7	115889304	115889304	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:115889304C>T	uc003vho.3	+	2	559	c.344C>T	c.(343-345)cCt>cTt	p.P115L	TES_uc011kmx.2_Missense_Mutation_p.P115L|TES_uc011kmy.2_Intron|TES_uc010lka.2_Missense_Mutation_p.P106L|TES_uc003vhp.3_Missense_Mutation_p.P106L|TES_uc022aki.1_Non-coding_Transcript	NM_015641	NP_690042	Q9UGI8	TES_HUMAN	Homo sapiens testis derived transcript (3 LIM domains) (TES), transcript variant 1, mRNA.	115	PET.				negative regulation of cell proliferation	cytoplasm|focal adhesion|nucleus|protein complex	zinc ion binding			endometrium(4)|large_intestine(4)|lung(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	12	Lung NSC(10;0.0137)|all_lung(10;0.0148)	Breast(660;0.0602)	STAD - Stomach adenocarcinoma(10;0.00878)			GAGTGGGCTCCTCCTGTCCAG	0.393000														56			81		0	0	1	0	0
NUP205	23165	broad.mit.edu	37	7	135310033	135310033	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:135310033G>A	uc003vsw.3	+	31	4632	c.4601G>A	c.(4600-4602)cGt>cAt	p.R1534H		NM_015135	NP_055950	Q92621	NU205_HUMAN	Homo sapiens nucleoporin 205kDa (NUP205), mRNA.	1534					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						GAAGATGACCGTACTTTGCAG	0.413000														80			101		0	0	1	0	0
HGD	3081	broad.mit.edu	37	3	120352051	120352051	+	Nonsense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:120352051G>T	uc003edw.3	-	12	1591	c.1131C>A	c.(1129-1131)tgC>tgA	p.C377*	HGD_uc003edv.3_Nonsense_Mutation_p.C236*	NM_000187	NP_000178	Q93099	HGD_HUMAN	Homo sapiens homogentisate 1,2-dioxygenase (HGD), mRNA.	377					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	homogentisate 1,2-dioxygenase activity|metal ion binding			cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25				GBM - Glioblastoma multiforme(114;0.158)		CCTTCTCAAAGCAGTCAGCAT	0.562000														29			20		8.28177e-16	1.04585e-15	1	1	0
TMEM89	440955	broad.mit.edu	37	3	48659143	48659143	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:48659143G>A	uc011bbo.2	-	0	47	c.47C>T	c.(46-48)aCg>aTg	p.T16M		NM_001008269	NP_001008270	A2RUT3	TMM89_HUMAN	Homo sapiens transmembrane protein 89 (TMEM89), mRNA.	16						integral to membrane				breast(1)|lung(1)|stomach(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000286)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		GGAGGCAGACGTCACCAGCAG	0.672000														25			11		0	0	1	0	0
GLDC	2731	broad.mit.edu	37	9	6602179	6602179	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:6602179C>T	uc003zkc.3	-	7	1278	c.1085G>A	c.(1084-1086)cGt>cAt	p.R362H		NM_000170	NP_000161	P23378	GCSP_HUMAN	Homo sapiens glycine dehydrogenase (decarboxylating) (GLDC), nuclear gene encoding mitochondrial protein, mRNA.	362					glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding			cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	AAGAGCAAGACGATACACTTC	0.448000														40			20		0	0	1	0	0
TSGA13	114960	broad.mit.edu	37	7	130364093	130364093	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:130364093A>G	uc003vqi.3	-	4	744	c.287T>C	c.(286-288)tTa>tCa	p.L96S	TSGA13_uc003vqj.3_Missense_Mutation_p.L96S	NM_052933	NP_443165	Q96PP4	TSG13_HUMAN	Homo sapiens testis specific, 13 (TSGA13), mRNA.	96										endometrium(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	18	Melanoma(18;0.0435)					CATAATCAGTAACGTCTTATC	0.443000														84			23		0	0	1	0	0
CNKSR2	22866	broad.mit.edu	37	X	21609293	21609293	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:21609293A>G	uc004czx.2	+	14	2291	c.1811A>G	c.(1810-1812)tAt>tGt	p.Y604C	CNKSR2_uc004czw.3_Missense_Mutation_p.Y604C|CNKSR2_uc011mjn.2_Missense_Mutation_p.Y555C|CNKSR2_uc011mjo.2_Missense_Mutation_p.Y574C|CNKSR2_uc004czy.3_Missense_Mutation_p.Y196C	NM_014927	NP_055742	Q8WXI2	CNKR2_HUMAN	Homo sapiens connector enhancer of kinase suppressor of Ras 2 (CNKSR2), transcript variant 1, mRNA.	604	PH.				regulation of signal transduction	cytoplasm|membrane	protein binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						GCATCCCTTTATTGGTATATT	0.328000														130			6		0	0	1	0	0
MYOF	26509	broad.mit.edu	37	10	95111211	95111211	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:95111211C>T	uc001kin.3	-	33	3904	c.3781G>A	c.(3781-3783)Ggg>Agg	p.G1261R	MYOF_uc001kio.3_Missense_Mutation_p.G1248R|MYOF_uc009xue.3_Non-coding_Transcript	NM_013451	NP_038479	Q9NZM1	MYOF_HUMAN	Homo sapiens myoferlin (MYOF), transcript variant 1, mRNA.	1261					blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						AGAACATCCCCGCAGGCTTTG	0.453000														72			7		0	0	1	0	0
MID1	4281	broad.mit.edu	37	X	10442795	10442795	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:10442795A>G	uc004cta.4	-	0	407	c.277T>C	c.(277-279)Tac>Cac	p.Y93H	MID1_uc004ctd.4_Intron|MID1_uc004cte.4_Intron|MID1_uc004ctg.4_Intron|MID1_uc004cth.4_Intron|MID1_uc004ctk.4_Intron|MID1_uc004ctj.4_Intron|MID1_uc004cti.4_Intron|MID1_uc011mie.1_Intron|MID1_uc004ctm.2_Intron|MID1_uc004ctn.2_Intron|MID1_uc004cto.2_Intron|MID1_uc010ndw.1_Intron|MID1_uc004cts.1_Intron|MID1_uc004csz.4_Intron|MID1_uc004ctb.4_Intron|MID1_uc004ctc.4_Intron|MID1_uc004ctl.2_Missense_Mutation_p.Y93H|MID1_uc004ctp.1_Intron|MID1_uc004ctq.1_Intron|MID1_uc004ctr.1_Intron|MID1_uc010ndu.1_Intron|MID1_uc010ndv.1_Intron	NM_033289	NP_150631	O15344	TRI18_HUMAN	Homo sapiens midline 1 (Opitz/BBB syndrome) (MID1), transcript variant 5, mRNA.	337					microtubule cytoskeleton organization|pattern specification process|positive regulation of stress-activated MAPK cascade	cytoplasm|microtubule|microtubule associated complex|spindle	ligase activity|ubiquitin protein ligase binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	26						GAGACTCTGTAATGCAAACAA	0.358000														60			24		0	0	1	0	0
CXADR	1525	broad.mit.edu	37	21	18919457	18919457	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:18919457G>A	uc002yki.3	+	1	380	c.156G>A	c.(154-156)ccG>ccA	p.P52P	CXADR_uc002ykh.2_Silent_p.P52P|CXADR_uc010gld.2_Silent_p.P52P|CXADR_uc010gle.2_Silent_p.P52P|CXADR_uc021whp.1_Silent_p.P52P|CXADR_uc002ykj.2_Silent_p.P52P	NM_001338	NP_001329	P78310	CXAR_HUMAN	Homo sapiens coxsackie virus and adenovirus receptor (CXADR), transcript variant 1, mRNA.	52	Ig-like C2-type 1.				blood coagulation|cell adhesion|interspecies interaction between organisms|leukocyte migration|regulation of immune response	adherens junction|basolateral plasma membrane|extracellular region|integral to plasma membrane|nucleus|tight junction	receptor activity			endometrium(2)|large_intestine(5)|lung(1)|ovary(1)|prostate(2)	11				Epithelial(23;0.000206)|all cancers(11;0.000302)|OV - Ovarian serous cystadenocarcinoma(11;0.0194)|Lung(58;0.0233)|COAD - Colon adenocarcinoma(22;0.0389)|Colorectal(24;0.0483)|LUSC - Lung squamous cell carcinoma(23;0.0782)		ACCAGGGACCGCTGGACATCG	0.468000														31			35		0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	176853555	176853555	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:176853555G>T	uc001glc.3	-	18	3358	c.3146C>A	c.(3145-3147)cCa>cAa	p.P1049Q	ASTN1_uc001glb.1_Missense_Mutation_p.P1049Q|ASTN1_uc001gld.1_Missense_Mutation_p.P1049Q	NM_004319	NP_004310	O14525	ASTN1_HUMAN	Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA.	1057	Fibronectin type-III 1.				cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CACCCCGATTGGTGGCTCTGA	0.532000														76			13		0.0135373	0.0139797	1	1	0
LOC650368	650368	broad.mit.edu	37	11	3427880	3427880	+	RNA	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:3427880C>A	uc010qxs.1	+	8		c.873C>A			LOC650368_uc001lxy.2_Non-coding_Transcript					Homo sapiens asparagine-linked glycosylation 1-like pseudogene (LOC650368), non-coding RNA.																		GGGATAGCTTCACAGATCCAC	0.587000														4			9		3.09899e-07	3.55757e-07	1	1	0
DST	667	broad.mit.edu	37	6	56374448	56374448	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:56374448G>T	uc003pcy.4	-	54	11243	c.11135C>A	c.(11134-11136)tCt>tAt	p.S3712Y		NM_015548	NP_056363	Q03001	DYST_HUMAN	Homo sapiens dystonin (DST), transcript variant 1eA, mRNA.	6124					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	Z disc|actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein C-terminus binding|protein binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			ACCTTTGGCAGATATGTCTTT	0.393000														19			15		2.5808e-16	3.27138e-16	1	1	0
NFKB1	4790	broad.mit.edu	37	4	103528372	103528372	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:103528372G>A	uc011ceq.2	+	17	2484	c.2017G>A	c.(2017-2019)Gct>Act	p.A673T	NFKB1_uc011cep.2_Missense_Mutation_p.A674T|NFKB1_uc011cer.2_Missense_Mutation_p.A493T	NM_001165412	NP_001158884	P19838	NFKB1_HUMAN	Homo sapiens nuclear factor of kappa light polypeptide gene enhancer in B-cells 1 (NFKB1), transcript variant 2, mRNA.	673	Interaction with CFLAR.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T cell receptor signaling pathway|Toll signaling pathway|anti-apoptosis|apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|membrane protein intracellular domain proteolysis|negative regulation of calcidiol 1-monooxygenase activity|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of transcription, DNA-dependent|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter	I-kappaB/NF-kappaB complex|cytosol|mitochondrion|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			biliary_tract(1)|breast(4)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	Dexamethasone(DB01234)|Pranlukast(DB01411)|Thalidomide(DB01041)	GCTGGTGGCCGCTGGGGCTGA	0.577000														70			5		0	0	1	0	0
GTF3C5	9328	broad.mit.edu	37	9	135926284	135926284	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:135926284G>T	uc004ccj.4	+	3	1024	c.687G>T	c.(685-687)caG>caT	p.Q229H	GTF3C5_uc010mzz.2_Missense_Mutation_p.Q104H|GTF3C5_uc004cci.4_Missense_Mutation_p.Q229H	NM_001122823	NP_001116295	Q9Y5Q8	TF3C5_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 5, 63kDa (GTF3C5), transcript variant 1, mRNA.	229						transcription factor TFIIIC complex	DNA binding|protein binding			endometrium(5)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;4.01e-06)|Epithelial(140;4e-05)		TGCCCAAGCAGCCACTGGAGG	0.617000														16			13		1.5739e-10	1.90488e-10	1	1	0
SPOCD1	90853	broad.mit.edu	37	1	32259438	32259438	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:32259438T>C	uc001bts.1	-	11	2502	c.2444A>G	c.(2443-2445)aAt>aGt	p.N815S	SPOCD1_uc001btr.1_5'Flank|SPOCD1_uc001btu.3_Missense_Mutation_p.N815S|SPOCD1_uc001btv.3_Missense_Mutation_p.N308S|SPOCD1_uc021oks.1_Missense_Mutation_p.N120S	NM_144569	NP_653170	Q6ZMY3	SPOC1_HUMAN	Homo sapiens SPOC domain containing 1 (SPOCD1), mRNA.	815					transcription, DNA-dependent					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		CTGGAAGATATTGTCCCCGCA	0.572000														111			75		0	0	1	0	0
KIAA2022	340533	broad.mit.edu	37	X	73960267	73960267	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:73960267C>A	uc004eby.3	-	2	4742	c.4125G>T	c.(4123-4125)caG>caT	p.Q1375H		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	Homo sapiens KIAA2022 (KIAA2022), mRNA.	1375					DNA replication proofreading|DNA replication, removal of RNA primer|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TCTTAGACTCCTGTGGTGTCC	0.458000														79			8		3.09899e-07	3.55757e-07	1	1	0
FMO4	2329	broad.mit.edu	37	1	171303741	171303741	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:171303741C>A	uc001gho.3	+	7	1236	c.1019C>A	c.(1018-1020)cCt>cAt	p.P340H		NM_002022	NP_002013	P31512	FMO4_HUMAN	Homo sapiens flavin containing monooxygenase 4 (FMO4), mRNA.	340					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	NADP binding|flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					TTTGAAGAACCTCTTAAAAGC	0.388000														97			6		0.000157383	0.000170012	1	1	0
SLCO1B3	28234	broad.mit.edu	37	12	21030736	21030736	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:21030736C>T	uc010sil.2	+	7	1066	c.1001C>T	c.(1000-1002)aCc>aTc	p.T334I	SLCO1B3_uc001rek.3_Missense_Mutation_p.T334I|SLCO1B3_uc001rel.3_Missense_Mutation_p.T334I|SLCO1B3_uc010sim.2_Intron			Q9NPD5	SO1B3_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1B3 (SLCO1B3), mRNA.	334					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					AGCATCCTTACCAATCCCCTG	0.259000														56			18		0	0	1	0	0
NINL	22981	broad.mit.edu	37	20	25457694	25457694	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:25457694G>T	uc002wux.1	-	16	2307	c.2233C>A	c.(2233-2235)Ctg>Atg	p.L745M	NINL_uc010gdn.1_Intron	NM_025176	NP_079452	Q9Y2I6	NINL_HUMAN	Homo sapiens ninein-like (NINL), mRNA.	745					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						AGCCCCGACAGCTCTCCACTC	0.682000														9			8		0.000442599	0.000473562	1	1	0
TRA2A	29896	broad.mit.edu	37	7	23547109	23547109	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:23547109G>A	uc003swi.3	-	4	784	c.571C>T	c.(571-573)Cgg>Tgg	p.R191W	TRA2A_uc011jzb.2_Non-coding_Transcript|TRA2A_uc011jzc.2_Missense_Mutation_p.R90W|TRA2A_uc011jzd.2_Missense_Mutation_p.R90W	NM_013293	NP_037425	Q13595	TRA2A_HUMAN	Homo sapiens transformer 2 alpha homolog (Drosophila) (TRA2A), mRNA.	191	RRM.				nuclear mRNA splicing, via spliceosome	nucleus	RNA binding|nucleotide binding			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10						TAATCCACCCGAATTCTTCTA	0.423000														128			50		0	0	1	0	0
LANCL3	347404	broad.mit.edu	37	X	37515055	37515055	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:37515055G>A	uc011mkd.2	+	1	990	c.688G>A	c.(688-690)Gaa>Aaa	p.E230K	LANCL3_uc004ddp.2_Missense_Mutation_p.E230K	NM_001170331	NP_001163802	Q6ZV70	LANC3_HUMAN	Homo sapiens LanC lantibiotic synthetase component C-like 3 (bacterial) (LANCL3), transcript variant 2, mRNA.	230							catalytic activity			lung(4)|pancreas(1)	5						CTATGGAACCGAATACTTGGG	0.418000														35			22		0	0	1	0	0
OCA2	4948	broad.mit.edu	37	15	28273046	28273046	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:28273046C>T	uc001zbh.4	-	3	596	c.486G>A	c.(484-486)ccG>ccA	p.P162P	OCA2_uc010ayv.3_Silent_p.P162P	NM_000275	NP_000266	Q04671	P_HUMAN	Homo sapiens oculocutaneous albinism II (OCA2), mRNA.	162					eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	L-tyrosine transmembrane transporter activity|arsenite transmembrane transporter activity|citrate transmembrane transporter activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		GTCGGATGTGCGGGCTGTCCA	0.622000									Oculocutaneous Albinism					36			15		0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195538617	195538617	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:195538617A>G	uc021xjp.1	-	0	228	c.72T>C	c.(70-72)caT>caC	p.H24H	MUC4_uc003fvo.3_Silent_p.H24H|MUC4_uc003fvp.3_Silent_p.H24H|MUC4_uc010hzv.3_Non-coding_Transcript	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	24					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		CTGGGACCACATGCGGAAGGA	0.642000														79			7		0	0	1	0	0
C4orf19	55286	broad.mit.edu	37	4	37591844	37591844	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:37591844C>T	uc003gsw.4	+	3	350	c.167C>T	c.(166-168)cCt>cTt	p.P56L	C4orf19_uc003gsy.4_Missense_Mutation_p.P56L	NM_001104629	NP_060772	Q8IY42	CD019_HUMAN	Homo sapiens chromosome 4 open reading frame 19 (C4orf19), transcript variant 1, mRNA.	56										large_intestine(1)|lung(3)|skin(3)|stomach(1)|urinary_tract(1)	9						AAAAATGACCCTCAGAGGCAG	0.532000														106			61		0	0	1	0	0
ARHGAP18	93663	broad.mit.edu	37	6	129959757	129959757	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:129959757C>T	uc003qbr.3	-	2	423	c.334G>A	c.(334-336)Gag>Aag	p.E112K	ARHGAP18_uc011ebw.2_Missense_Mutation_p.E112K|ARHGAP18_uc021zfe.1_Missense_Mutation_p.E109K	NM_033515	NP_277050	Q8N392	RHG18_HUMAN	Homo sapiens Rho GTPase activating protein 18 (ARHGAP18), mRNA.	112					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3)	18				OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074)		TTAAGCCACTCTTCTTCCAAT	0.388000														27			7		0	0	1	0	0
SYTL2	54843	broad.mit.edu	37	11	85422207	85422207	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:85422207C>T	uc010rth.2	-	10	2168	c.1779G>A	c.(1777-1779)ccG>ccA	p.P593P	SYTL2_uc010rtg.2_Silent_p.P594P|SYTL2_uc010rti.2_Intron|SYTL2_uc010rtj.2_Silent_p.P561P|SYTL2_uc001pav.3_Silent_p.P35P|SYTL2_uc010rte.2_Intron|SYTL2_uc001pax.3_Silent_p.P35P|SYTL2_uc001paz.3_Intron|SYTL2_uc001pay.3_Silent_p.P24P|SYTL2_uc001paw.3_Intron|SYTL2_uc009yvj.3_Non-coding_Transcript|SYTL2_uc001pbd.3_Intron|SYTL2_uc001pbb.3_Silent_p.P931P|SYTL2_uc001pbc.3_Silent_p.P915P|SYTL2_uc010rtf.2_Intron	NM_001162951	NP_001156423	Q9HCH5	SYTL2_HUMAN	Homo sapiens synaptotagmin-like 2 (SYTL2), transcript variant g, mRNA.	593	Ser-rich.				intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	Rab GTPase binding|neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		TTAAAGAGCTCGGGCTCTTCT	0.423000														95			64		0	0	1	0	0
ACAD8	27034	broad.mit.edu	37	11	134130998	134130998	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:134130998G>A	uc001qhk.3	+	6	827	c.766G>A	c.(766-768)Gcc>Acc	p.A256T	ACAD8_uc010sco.1_3'UTR|ACAD8_uc010scp.1_Non-coding_Transcript|ACAD8_uc010scq.2_Missense_Mutation_p.A179T|ACAD8_uc001qhl.3_Missense_Mutation_p.A129T|ACAD8_uc010scr.1_3'UTR|ACAD8_uc009zde.1_3'UTR	NM_014384	NP_055199	Q9UKU7	ACAD8_HUMAN	Homo sapiens acyl-CoA dehydrogenase family, member 8 (ACAD8), nuclear gene encoding mitochondrial protein, mRNA.	256					branched chain family amino acid catabolic process|lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding			endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	14	all_hematologic(175;0.127)	all_cancers(12;8e-23)|all_epithelial(12;2.59e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|all_neural(223;0.0189)|Medulloblastoma(222;0.0245)|Esophageal squamous(93;0.0559)		Epithelial(10;1.92e-10)|all cancers(11;2.26e-09)|BRCA - Breast invasive adenocarcinoma(10;8.73e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00154)|Lung(977;0.21)		TGTCCCTGTGGCCAACAGAAT	0.572000														15			11		0	0	1	0	0
VWA7	80737	broad.mit.edu	37	6	31734933	31734933	+	Splice_Site	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31734933A>G	uc011dog.2	-	13	2120	c.1882_splice	c.e13+1	p.G628_splice	VWA7_uc003nxd.2_Splice_Site_p.G303_splice	NM_025258	NP_079534	Q9Y334	G7C_HUMAN	Homo sapiens von Willebrand factor A domain containing 7 (VWA7), mRNA.	628						extracellular region											GAATAAATGTACCTGCAACTG	0.428000														9			3		0	0	1	0	0
ENO3	2027	broad.mit.edu	37	17	4858806	4858806	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:4858806G>A	uc010vst.2	+	2	462	c.280G>A	c.(280-282)Gat>Aat	p.D94N	ENO3_uc010vsr.2_Missense_Mutation_p.D165N|ENO3_uc002gab.4_Missense_Mutation_p.D258N|ENO3_uc002gac.4_Missense_Mutation_p.D258N|ENO3_uc010vss.2_Missense_Mutation_p.D215N	NM_001193503	NP_001180432	P13929	ENOB_HUMAN	Homo sapiens enolase 3 (beta, muscle) (ENO3), transcript variant 3, mRNA.	258					gluconeogenesis|glycolysis	phosphopyruvate hydratase complex	magnesium ion binding|phosphopyruvate hydratase activity	p.F93C(1)		cervix(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)	15						TGGGAAGTACGATCTTGACTT	0.542000														158			109		0	0	1	0	0
NDUFV1	4723	broad.mit.edu	37	11	67379590	67379590	+	Splice_Site	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:67379590G>T	uc001omj.2	+	9	1316	c.1163_splice	c.e9-1	p.G388_splice	NDUFV1_uc010rpv.1_Splice_Site_p.G287_splice|NDUFV1_uc001omk.4_Splice_Site_p.G379_splice|NDUFV1_uc001oml.2_Splice_Site_p.G381_splice|NDUFV1_uc010rpw.1_Splice_Site_p.G97_splice	NM_007103	NP_009034	P49821	NDUV1_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa (NDUFV1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	388					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|FMN binding|NAD binding|NADH dehydrogenase (ubiquinone) activity|metal ion binding			breast(1)|endometrium(3)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	16					NADH(DB00157)	TGTGGCTGCAGGTGTGGACTG	0.622000														53			14		0.0242445	0.0248014	1	1	0
SYTL2	54843	broad.mit.edu	37	11	85415995	85415995	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:85415995T>G	uc010rth.2	-	13	2569	c.2180A>C	c.(2179-2181)aAt>aCt	p.N727T	SYTL2_uc010rtg.2_Missense_Mutation_p.N728T|SYTL2_uc010rti.2_Missense_Mutation_p.N703T|SYTL2_uc010rtj.2_Missense_Mutation_p.N695T|SYTL2_uc001pav.3_Missense_Mutation_p.N169T|SYTL2_uc010rte.2_Missense_Mutation_p.N129T|SYTL2_uc001pax.3_Missense_Mutation_p.N169T|SYTL2_uc001paz.3_Missense_Mutation_p.N48T|SYTL2_uc001pay.3_Missense_Mutation_p.N158T|SYTL2_uc001paw.3_Missense_Mutation_p.N129T|SYTL2_uc009yvj.3_Non-coding_Transcript|SYTL2_uc001pbd.3_Missense_Mutation_p.N1025T|SYTL2_uc001pbb.3_Missense_Mutation_p.N1065T|SYTL2_uc001pbc.3_Missense_Mutation_p.N1049T|SYTL2_uc010rtf.2_Missense_Mutation_p.N545T	NM_001162951	NP_001156423	Q9HCH5	SYTL2_HUMAN	Homo sapiens synaptotagmin-like 2 (SYTL2), transcript variant g, mRNA.	727	C2 1.				intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	Rab GTPase binding|neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		TAGGAAACTATTGCGCTTAAA	0.373000														128			10		0	0	1	0	0
C2orf89	129293	broad.mit.edu	37	2	85097653	85097653	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:85097653C>T	uc010ysl.2	-	1	454	c.365G>A	c.(364-366)cGc>cAc	p.R122H	C2orf89_uc002sou.4_Missense_Mutation_p.R122H|C2orf89_uc010fgc.2_Missense_Mutation_p.R122H	NM_001080824	NP_001074293	Q86V40	CB089_HUMAN	Homo sapiens chromosome 2 open reading frame 89 (C2orf89), mRNA.	122						integral to membrane				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(3)	18						GCGCTTGAGGCGGCAGTAGAT	0.577000														27			12		0	0	1	0	0
SLC22A13	9390	broad.mit.edu	37	3	38307385	38307385	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:38307385G>T	uc003chz.3	+	0	88	c.34G>T	c.(34-36)Ggt>Tgt	p.G12C	SLC22A13_uc011aym.1_Non-coding_Transcript|SLC22A13_uc011ayn.1_Missense_Mutation_p.G12C	NM_004256	NP_004247	Q9Y226	S22AD_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 13 (SLC22A13), mRNA.	12						integral to plasma membrane	organic cation transmembrane transporter activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|urinary_tract(1)	20				KIRC - Kidney renal clear cell carcinoma(284;0.0533)|Kidney(284;0.067)		GGCTGAAATAGGTGACTTTGG	0.502000														49			8		1.06961e-07	1.2399e-07	1	1	0
GOLGA2	2801	broad.mit.edu	37	9	131019676	131019676	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:131019676C>A	uc011maw.2	-	24	2779	c.2766G>T	c.(2764-2766)caG>caT	p.Q922H	GOLGA2_uc010mxw.3_Missense_Mutation_p.Q245H|GOLGA2_uc004buh.3_Intron|DQ583972_uc022boe.1_5'Flank|DQ583692_uc022bog.1_5'Flank	NM_004486	NP_004477	Q08379	GOGA2_HUMAN	Homo sapiens golgin A2 (GOLGA2), mRNA.	922						Golgi cisterna membrane	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						CCCCAAGTTCCTGGGGGGCTG	0.667000														13			14		1.49906e-05	1.66078e-05	1	1	0
OXR1	55074	broad.mit.edu	37	8	107763107	107763107	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:107763107C>T	uc011lht.2	+	15	2662	c.2563C>T	c.(2563-2565)Cgt>Tgt	p.R855C	OXR1_uc022azp.1_Missense_Mutation_p.R854C|OXR1_uc003ymf.3_Missense_Mutation_p.R827C|OXR1_uc011lhu.2_Missense_Mutation_p.R820C|OXR1_uc010mcg.3_Non-coding_Transcript|OXR1_uc010mch.3_Missense_Mutation_p.R483C|OXR1_uc003ymk.3_Missense_Mutation_p.R224C|OXR1_uc003yml.3_Missense_Mutation_p.R197C	NM_001198532	NP_001185461	Q8N573	OXR1_HUMAN	Homo sapiens oxidation resistance 1 (OXR1), transcript variant 3, mRNA.	855					cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion				NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			GTTTGGGAATCGTACACTTTC	0.363000														60			27		0	0	1	0	0
KCNN1	3780	broad.mit.edu	37	19	18084939	18084939	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:18084939G>T	uc002nht.3	+	2	552	c.242G>T	c.(241-243)aGa>aTa	p.R81I	KCNN1_uc010xqa.1_Missense_Mutation_p.R81I	NM_002248	NP_002239	Q92952	KCNN1_HUMAN	Homo sapiens potassium intermediate/small conductance calcium-activated channel, subfamily N, member 1 (KCNN1), mRNA.	81					synaptic transmission	voltage-gated potassium channel complex	calmodulin binding|small conductance calcium-activated potassium channel activity			endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	8						GGCAGGCAGAGAGCCTCGGGG	0.677000														22			13		1.5842e-08	1.86177e-08	1	1	0
KBTBD4	55709	broad.mit.edu	37	11	47599055	47599055	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:47599055G>T	uc001nfx.3	-	1	668	c.497C>A	c.(496-498)gCc>gAc	p.A166D	NDUFS3_uc001nft.3_Intron|KBTBD4_uc001nfw.2_Missense_Mutation_p.A191D|KBTBD4_uc001nfz.3_Missense_Mutation_p.A182D|KBTBD4_uc001nfy.3_Missense_Mutation_p.A166D|NDUFS3_uc010rhn.1_5'Flank|NDUFS3_uc001nga.2_5'Flank	NM_016506	NP_057590	Q9NVX7	KBTB4_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 4 (KBTBD4), transcript variant 2, mRNA.	166	BACK.									NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	24						ACAGTGCTTGGCAGCCGTATA	0.542000														83			57		3.4597e-24	4.51497e-24	1	1	0
USP49	25862	broad.mit.edu	37	6	41773651	41773651	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:41773651G>T	uc003ori.3	-	3	1293	c.1071C>A	c.(1069-1071)ctC>ctA	p.L357L		NM_018561	NP_061031	Q70CQ1	UBP49_HUMAN	Homo sapiens ubiquitin specific peptidase 49 (USP49), mRNA.	357					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)|skin(2)	23	Ovarian(28;0.0919)|Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GTTCACGGCAGAGGGAAATGT	0.602000														23			10		1.58986e-06	1.80238e-06	1	1	0
CCDC102A	92922	broad.mit.edu	37	16	57550268	57550268	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:57550268C>A	uc002elw.3	-	6	1569	c.1356G>T	c.(1354-1356)gaG>gaT	p.E452D		NM_033212	NP_149989	Q96A19	C102A_HUMAN	Homo sapiens coiled-coil domain containing 102A (CCDC102A), mRNA.	452										endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8						GCTTCTTCACCTCAGCCTCGT	0.627000														20			18		5.03518e-11	6.129e-11	1	1	0
PLXNA2	5362	broad.mit.edu	37	1	208217962	208217962	+	Silent	SNP	G	A	A	rs139061737		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:208217962G>A	uc001hgz.3	-	19	4523	c.3765C>T	c.(3763-3765)atC>atT	p.I1255I		NM_025179	NP_079455	O75051	PLXA2_HUMAN	Homo sapiens plexin A2 (PLXNA2), mRNA.	1255					axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		CAATGAGGACGATGATGACGA	0.582000														22			24		0	0	1	0	0
PARP3	10039	broad.mit.edu	37	3	51979069	51979069	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:51979069C>T	uc003dby.3	+	5	1061	c.690C>T	c.(688-690)ttC>ttT	p.F230F	PARP3_uc003dbz.3_Silent_p.F237F	NM_005485	NP_005476	Q9Y6F1	PARP3_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 3 (PARP3), transcript variant 2, mRNA.	230	PARP alpha-helical.				DNA repair|protein ADP-ribosylation	centriole|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CACGGGGTTTCGAGGCCTTGG	0.617000														57			21		0	0	1	0	0
FUS	2521	broad.mit.edu	37	16	31199645	31199645	+	Splice_Site	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:31199645G>T	uc002ebf.3	+	8	905	c.800_splice	c.e8-1	p.G267_splice	FUS_uc002ebe.2_Splice_Site_p.G263_splice|FUS_uc002ebg.3_Splice_Site_p.G62_splice|FUS_uc002ebh.3_Splice_Site_p.G266_splice|FUS_uc010caj.1_5'Flank	NM_004960	NP_004951	P35637	FUS_HUMAN	Homo sapiens fused in sarcoma (FUS), transcript variant 1, mRNA.	267	Gly-rich.	Breakpoint for translocation to form FUS/TLS-CHOP oncogene.			cell death|nuclear mRNA splicing, via spliceosome	nucleoplasm	DNA binding|RNA binding|nucleotide binding|protein binding|zinc ion binding		FUS/ERG(167)|FUS/DDIT3(631)|FUS/FEV(2)|FUS/ATF1(4)|FUS/CREB3L1(6)|FUS/CREB3L2(158)	breast(3)|endometrium(5)|kidney(3)|large_intestine(1)|lung(5)|prostate(3)|skin(1)|urinary_tract(1)	22		Renal(780;0.000219)|Breast(268;0.00957)|Hepatocellular(780;0.121)		GBM - Glioblastoma multiforme(240;2.31e-05)|Kidney(780;0.000209)		TGTCACTAAAGGCCCTCGGGA	0.418000			T	"""DDIT3, ERG, FEV, ATF1, CREB3L2, CREB3L1"""	"""liposarcoma, AML, Ewing sarcoma, angiomatoid fibrous histiocytoma, fibromyxoid sarcoma"""									38			24		1.55469e-16	1.97158e-16	1	1	0
AK308867	0	broad.mit.edu	37	16	70266605	70266605	+	RNA	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:70266605A>C	uc010cfp.1	-	5		c.631T>G								Homo sapiens cDNA, FLJ98908.																		TAAAACTAATAACATCAGAGA	0.323000														7			6		0	0	1	0	0
HRC	3270	broad.mit.edu	37	19	49658411	49658411	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:49658411C>A	uc002pmv.3	-	0	271	c.84G>T	c.(82-84)caG>caT	p.Q28H	TRPM4_uc002pmw.3_5'Flank|TRPM4_uc010emu.3_5'Flank|TRPM4_uc010yak.2_5'Flank|TRPM4_uc002pmx.3_5'Flank|TRPM4_uc010emv.3_5'Flank|TRPM4_uc010yal.2_5'Flank	NM_002152	NP_002143	P23327	SRCH_HUMAN	Homo sapiens histidine rich calcium binding protein (HRC), mRNA.	28					muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		CTCTGAGCTGCTGGGTCATGG	0.667000														59			6		0.0215528	0.0220531	1	1	0
INSR	3643	broad.mit.edu	37	19	7267410	7267410	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:7267410C>T	uc002mgd.1	-	1	707	c.598G>A	c.(598-600)Gtc>Atc	p.V200I	INSR_uc002mge.1_Missense_Mutation_p.V200I|INSR_uc002mgf.3_Missense_Mutation_p.V200I	NM_000208	NP_000199	P06213	INSR_HUMAN	Homo sapiens insulin receptor (INSR), transcript variant 1, mRNA.	200	Cys-rich.				G-protein coupled receptor protein signaling pathway|activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of DNA replication|positive regulation of MAPKKK cascade|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|PTB domain binding|SH2 domain binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|receptor signaling protein tyrosine kinase activity			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CCGTTGATGACGGTGGCGGGG	0.537000														30			25		0	0	1	0	0
PHF8	23133	broad.mit.edu	37	X	53965633	53965633	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:53965633G>A	uc004dsu.3	-	21	3387	c.3141C>T	c.(3139-3141)ggC>ggT	p.G1047G	PHF8_uc004dsv.3_Silent_p.G877G|PHF8_uc004dst.3_Silent_p.G1011G|PHF8_uc004dsw.3_Silent_p.G910G	NM_001184896	NP_055922	Q9UPP1	PHF8_HUMAN	Homo sapiens PHD finger protein 8 (PHF8), transcript variant 1, mRNA.	1047					G1/S transition of mitotic cell cycle|brain development|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						TCAGGATACGGCCGAGTCTCT	0.527000														51			22		0	0	1	0	0
SULT1C2	6819	broad.mit.edu	37	2	108921631	108921631	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:108921631T>G	uc002tdy.3	+	5	959	c.506T>G	c.(505-507)gTt>gGt	p.V169G	SULT1C2_uc010ywp.1_Missense_Mutation_p.V84G|SULT1C2_uc010ywq.2_Missense_Mutation_p.V183G|SULT1C2_uc002tdx.3_Missense_Mutation_p.V180G	NM_001056	NP_001047	O00338	ST1C2_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 1C, member 2 (SULT1C2), transcript variant 1, mRNA.	169					3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine metabolic process|sulfation|xenobiotic metabolic process	cytosol|microtubule cytoskeleton	sulfotransferase activity	p.E169G(1)		NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						ATTTCAGTGGTTTGGGGTTCC	0.428000														89			7		0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39895603	39895603	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:39895603C>T	uc021olw.1	+	28	12313	c.12313C>T	c.(12313-12315)Cgg>Tgg	p.R4105W	MACF1_uc021ols.1_Missense_Mutation_p.R3603W|MACF1_uc001cdc.2_Missense_Mutation_p.R3473W|MACF1_uc021olt.1_Missense_Mutation_p.R3603W|MACF1_uc001cda.1_Missense_Mutation_p.R3490W	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	5670					Golgi to plasma membrane protein transport|Wnt receptor signaling pathway|cell cycle arrest|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|wound healing	Golgi apparatus|microtubule|ruffle membrane	ATPase activity|actin filament binding|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGAGCAAGCCCGGCAGCTGGC	0.532000														29			13		0	0	1	0	0
CRB2	286204	broad.mit.edu	37	9	126125435	126125435	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:126125435G>A	uc004bnx.1	+	1	478	c.386G>A	c.(385-387)cGc>cAc	p.R129H	CRB2_uc004bnw.1_Missense_Mutation_p.R129H	NM_173689	NP_775960	Q5IJ48	CRUM2_HUMAN	Homo sapiens crumbs homolog 2 (Drosophila) (CRB2), mRNA.	129	EGF-like 2; calcium-binding (Potential).					extracellular region|integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						CTGGCCGATCGCTACGAGTGC	0.642000														7			5		0	0	1	0	0
DUSP13	51207	broad.mit.edu	37	10	76854614	76854614	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:76854614G>T	uc001jwr.3	-	3	480	c.417C>A	c.(415-417)gcC>gcA	p.A139A	DUSP13_uc001jws.3_3'UTR|DUSP13_uc001jwu.3_Silent_p.A232A|DUSP13_uc001jww.3_Silent_p.A189A|DUSP13_uc009xrs.3_Silent_p.A232A|DUSP13_uc001jwt.3_Silent_p.A232A|DUSP13_uc001jwv.3_Silent_p.A139A	NM_016364	NP_057448	Q6B8I1	MDSP_HUMAN	Homo sapiens dual specificity phosphatase 13 (DUSP13), transcript variant 6, mRNA.	130	Tyrosine-protein phosphatase.					cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	8	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					TTACCCCCATGGCACAGTGTA	0.592000														20			4		2.56e-06	2.88678e-06	1	1	0
STAT5B	6777	broad.mit.edu	37	17	40379676	40379676	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:40379676C>A	uc002hzh.3	-	2	325	c.156G>T	c.(154-156)caG>caT	p.Q52H	STAT5B_uc002hzi.3_Missense_Mutation_p.Q52H	NM_012448	NP_036580	P51692	STA5B_HUMAN	Homo sapiens signal transducer and activator of transcription 5B (STAT5B), mRNA.	52					2-oxoglutarate metabolic process|JAK-STAT cascade involved in growth hormone signaling pathway|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|oxaloacetate metabolic process|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|glucocorticoid receptor binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.135)	Dasatinib(DB01254)	TAATGTTCTCCTGTGGATTAT	0.473000														37			4		0.014758	0.0151755	1	1	0
FAM114A2	10827	broad.mit.edu	37	5	153406011	153406011	+	Missense_Mutation	SNP	T	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:153406011T>A	uc003lvd.3	-	8	1003	c.861A>T	c.(859-861)aaA>aaT	p.K287N	FAM114A2_uc003lvb.3_Missense_Mutation_p.K287N|FAM114A2_uc003lve.3_Missense_Mutation_p.K103N|FAM114A2_uc011dda.2_Missense_Mutation_p.K217N|FAM114A2_uc003lvc.3_Missense_Mutation_p.K287N	NM_018691	NP_061161	Q9NRY5	F1142_HUMAN	Homo sapiens family with sequence similarity 114, member A2 (FAM114A2), mRNA.	287							purine nucleotide binding			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)|urinary_tract(1)	18						AAAATGTTTCTTTGAGTTGCT	0.333000														14			9		0	0	1	0	0
OPN4	94233	broad.mit.edu	37	10	88414583	88414583	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:88414583C>T	uc010qmk.1	+	0	270	c.43C>T	c.(43-45)Caa>Taa	p.Q15*	OPN4_uc001kdp.3_Nonsense_Mutation_p.Q15*|OPN4_uc001kdq.3_Nonsense_Mutation_p.Q15*	NM_001030015	NP_001025186	Q9UHM6	OPN4_HUMAN	Homo sapiens opsin 4 (OPN4), transcript variant 2, mRNA.	15					phototransduction|protein-chromophore linkage|regulation of circadian rhythm|rhythmic process|visual perception	integral to membrane|plasma membrane	11-cis retinal binding|G-protein coupled photoreceptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3)	18						CAGCCCAACCCAAGAGCCCAG	0.647000														33			23		0	0	1	0	0
PPM1B	5495	broad.mit.edu	37	2	44471370	44471370	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:44471370G>A	uc002rtx.3	+	5	1566	c.1138G>A	c.(1138-1140)Gca>Aca	p.A380T		NM_001033557	NP_001028729	O75688	PPM1B_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1B (PPM1B), transcript variant 5, mRNA.	378					protein dephosphorylation	protein serine/threonine phosphatase complex	magnesium ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity			kidney(4)|large_intestine(3)|lung(7)|skin(2)	16		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CCACCAGATGGCAGTCTTGGG	0.413000														5			3		0	0	1	0	0
ACAP2	23527	broad.mit.edu	37	3	195022730	195022730	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:195022730G>A	uc003fun.4	-	13	1531	c.1290C>T	c.(1288-1290)ggC>ggT	p.G430G		NM_012287	NP_036419	Q15057	ACAP2_HUMAN	Homo sapiens ArfGAP with coiled-coil, ankyrin repeat and PH domains 2 (ACAP2), mRNA.	430	Arf-GAP.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	27						ACAAGGTGATGCCCAGGTTGA	0.527000														73			59		0	0	1	0	0
NDST1	3340	broad.mit.edu	37	5	149927815	149927815	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:149927815G>A	uc003lsk.4	+	11	2683	c.2181G>A	c.(2179-2181)aaG>aaA	p.K727K	NDST1_uc011dcj.2_Intron	NM_001543	NP_001534	P52848	NDST1_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1 (NDST1), mRNA.	727	Heparan sulfate N-sulfotransferase 1.				heparan sulfate proteoglycan biosynthetic process|inflammatory response	Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	34		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGGCCCTAAAGTACACCTTCC	0.612000														23			14		0	0	1	0	0
ZEB2	9839	broad.mit.edu	37	2	145158778	145158778	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:145158778G>A	uc002tvu.3	-	6	1426	c.904C>T	c.(904-906)Cga>Tga	p.R302*	ZEB2_uc010zbm.2_Nonsense_Mutation_p.R278*|ZEB2_uc002tvv.3_Nonsense_Mutation_p.R296*|ZEB2_uc010fnp.3_Nonsense_Mutation_p.R210*|ZEB2_uc010fnq.1_Nonsense_Mutation_p.R331*	NM_014795	NP_055610	O60315	ZEB2_HUMAN	Homo sapiens zinc finger E-box binding homeobox 2 (ZEB2), transcript variant 1, mRNA.	302						cytoplasm|nucleolus	SMAD binding|phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R302Q(2)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		CTGTGAATTCGCAGGTGTTCT	0.408000														58			32		0	0	1	0	0
RXFP2	122042	broad.mit.edu	37	13	32348793	32348793	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:32348793G>T	uc001utt.3	+	5	605	c.534G>T	c.(532-534)agG>agT	p.R178S	RXFP2_uc010aba.3_Missense_Mutation_p.R178S	NM_130806	NP_570718	Q8WXD0	RXFP2_HUMAN	Homo sapiens relaxin/insulin-like family peptide receptor 2 (RXFP2), transcript variant 1, mRNA.	178						integral to membrane|plasma membrane				cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		ACATATCCAGGAAAGCATTTT	0.318000														87			7		8.12818e-05	8.84769e-05	1	1	0
GRK5	2869	broad.mit.edu	37	10	121214505	121214505	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:121214505C>A	uc001led.3	+	15	1932	c.1699C>A	c.(1699-1701)Ccc>Acc	p.P567T	GRK5_uc009xzh.3_Missense_Mutation_p.P432T	NM_005308	NP_005299	P34947	GRK5_HUMAN	Homo sapiens G protein-coupled receptor kinase 5 (GRK5), mRNA.	567					G-protein signaling, coupled to cAMP nucleotide second messenger|regulation of G-protein coupled receptor protein signaling pathway|tachykinin receptor signaling pathway	cytoplasm|plasma membrane|soluble fraction	ATP binding|G-protein coupled receptor kinase activity|phospholipid binding|protein kinase C binding|signal transducer activity			endometrium(2)|large_intestine(5)|lung(15)|skin(3)|stomach(1)|urinary_tract(1)	27		Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249)		all cancers(201;0.0227)		CAAGAGTTCGCCCAGCTCCAA	0.567000														43			4		1.23904e-05	1.3743e-05	1	1	0
TJP2	9414	broad.mit.edu	37	9	71833262	71833262	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:71833262A>G	uc004ahe.3	+	3	647	c.329A>G	c.(328-330)aAg>aGg	p.K110R	TJP2_uc011lrs.2_Missense_Mutation_p.K87R|TJP2_uc004ahb.1_Missense_Mutation_p.K87R|TJP2_uc011lrt.1_Missense_Mutation_p.K87R|TJP2_uc004ahd.3_Missense_Mutation_p.K110R|TJP2_uc004ahf.3_Missense_Mutation_p.K110R|TJP2_uc011lru.2_Missense_Mutation_p.K114R|TJP2_uc011lrv.2_Missense_Mutation_p.K141R	NM_004817	NP_004808	Q9UDY2	ZO2_HUMAN	Homo sapiens tight junction protein 2 (zona occludens 2) (TJP2), transcript variant 1, mRNA.	110	PDZ 1.				cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						AAAAGTGGGAAGGTCGCTGCT	0.433000														21			10		0	0	1	0	0
KIAA1683	80726	broad.mit.edu	37	19	18378152	18378152	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:18378152C>T	uc010ebn.2	-	2	414	c.198G>A	c.(196-198)ccG>ccA	p.P66P	KIAA1683_uc002nin.2_Silent_p.P66P|KIAA1683_uc010xqe.1_Silent_p.P20P	NM_001145304	NP_001138776	Q9H0B3	K1683_HUMAN	Homo sapiens KIAA1683 (KIAA1683), transcript variant 1, mRNA.	66						mitochondrion				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						CAGGCTGTTGCGGAAGATGCT	0.642000														55			34		0	0	1	0	0
ZNF443	10224	broad.mit.edu	37	19	12542575	12542575	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:12542575T>C	uc002mtu.3	-	3	609	c.411A>G	c.(409-411)ggA>ggG	p.G137G		NM_005815	NP_005806	Q9Y2A4	ZN443_HUMAN	Homo sapiens zinc finger protein 443 (ZNF443), mRNA.	137					induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						CTGGCTTCTCTCCACATTCAT	0.418000														81			8		0	0	1	0	0
NRXN1	9378	broad.mit.edu	37	2	51254898	51254898	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:51254898C>T	uc021vhh.1	-	0	1435	c.514G>A	c.(514-516)Gcc>Acc	p.A172T	NRXN1_uc021vhg.1_Missense_Mutation_p.A172T|NRXN1_uc021vhi.1_Missense_Mutation_p.A172T|NRXN1_uc021vhj.1_Missense_Mutation_p.A172T|NRXN1_uc021vhk.1_Missense_Mutation_p.A172T	NM_004801	NP_004792	Q9ULB1	NRX1A_HUMAN	Homo sapiens neurexin 1 (NRXN1), transcript variant alpha1, mRNA.	172	Laminin G-like 1.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CTCACCGAGGCCAGGGTGAGC	0.677000														6			7		0	0	1	0	0
NTRK3	4916	broad.mit.edu	37	15	88472533	88472533	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:88472533G>T	uc002bme.2	-	16	2328	c.2022C>A	c.(2020-2022)caC>caA	p.H674Q	NTRK3_uc002bmh.2_Missense_Mutation_p.H666Q|NTRK3_uc002bmf.2_Missense_Mutation_p.H674Q|NTRK3_uc021sua.1_Missense_Mutation_p.H666Q|NTRK3_uc010upl.1_Missense_Mutation_p.H576Q|NTRK3_uc010bnh.1_Missense_Mutation_p.H666Q	NM_001012338	NP_001012338	Q16288	NTRK3_HUMAN	Homo sapiens neurotrophic tyrosine kinase, receptor, type 3 (NTRK3), transcript variant 1, mRNA.	674	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			GGTGCACAAAGTGCTGGGAGG	0.592000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)				49			7		8.12818e-05	8.84769e-05	1	1	0
PPP3CC	5533	broad.mit.edu	37	8	22368598	22368598	+	Splice_Site	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:22368598G>T	uc011kzi.2	+	5	925	c.485_splice	c.e5-1	p.C162_splice	PPP3CC_uc003xbr.2_Splice_Site_p.C162_splice|PPP3CC_uc003xbs.3_Splice_Site_p.C162_splice|PPP3CC_uc003xbt.3_Splice_Site_p.C162_splice	NM_001243974	NP_001230903	P48454	PP2BC_HUMAN	Homo sapiens protein phosphatase 3, catalytic subunit, gamma isozyme (PPP3CC), transcript variant 1, mRNA.	162					activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals	cytosol	calmodulin binding|metal ion binding|phosphoprotein phosphatase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Prostate(55;0.104)		BRCA - Breast invasive adenocarcinoma(99;0.00756)|Colorectal(74;0.0238)|COAD - Colon adenocarcinoma(73;0.0835)		TTTTTTGTTAGGTCGAATCAA	0.388000														91			6		1.12685e-05	1.25391e-05	1	1	0
EEPD1	80820	broad.mit.edu	37	7	36194070	36194070	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:36194070C>T	uc003tfa.3	+	1	777	c.137C>T	c.(136-138)aCg>aTg	p.T46M		NM_030636	NP_085139	Q7L9B9	EEPD1_HUMAN	Homo sapiens endonuclease/exonuclease/phosphatase family domain containing 1 (EEPD1), mRNA.	46	HhH.				DNA repair		DNA binding			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|skin(1)	18						AACACTGCCACGGAGGAGGAG	0.587000														104			33		0	0	1	0	0
NMUR1	10316	broad.mit.edu	37	2	232390003	232390003	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:232390003G>T	uc002vry.4	-	2	1142	c.1032C>A	c.(1030-1032)ttC>ttA	p.F344L		NM_006056	NP_006047	Q9HB89	NMUR1_HUMAN	Homo sapiens neuromedin U receptor 1 (NMUR1), mRNA.	344					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|calcium ion transport|calcium-mediated signaling|chloride transport|smooth muscle contraction	integral to plasma membrane|membrane fraction	neuromedin U receptor activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(12)|pancreas(1)|skin(1)	24		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;8.37e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		CCAGGTAGAAGAAGATGCCGG	0.657000														41			26		2.12542e-12	2.62166e-12	1	1	0
CDH12	1010	broad.mit.edu	37	5	21751923	21751923	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:21751923C>A	uc010iuc.2	-	11	2766	c.2308G>T	c.(2308-2310)Gac>Tac	p.D770Y	CDH12_uc011cno.1_Missense_Mutation_p.D730Y|CDH12_uc003jgk.2_Missense_Mutation_p.D770Y|BC038535_uc003jgj.3_Intron	NM_004061	NP_004052	P55289	CAD12_HUMAN	Homo sapiens cadherin 12, type 2 (N-cadherin 2) (CDH12), mRNA.	770					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						GGTCCCCAGTCTGTCAGATAG	0.507000										HNSCC(59;0.17)				49			41		1.48646e-12	1.83655e-12	1	1	0
LRRC3B	116135	broad.mit.edu	37	3	26751326	26751326	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:26751326C>A	uc003cdp.3	+	1	752	c.163C>A	c.(163-165)Ctc>Atc	p.L55I	LRRC3B_uc003cdq.3_Missense_Mutation_p.L55I|LRRC3B_uc021wuj.1_Missense_Mutation_p.L55I	NM_052953	NP_443185	Q96PB8	LRC3B_HUMAN	Homo sapiens leucine rich repeat containing 3B (LRRC3B), mRNA.	55	LRRNT.					integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	21						CAATGCAAATCTCAAGGAAAT	0.413000														72			6		0.00116845	0.00123466	1	1	0
PNPLA4	8228	broad.mit.edu	37	X	7868854	7868854	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:7868854G>T	uc011mhq.1	-	6	797	c.635C>A	c.(634-636)tCc>tAc	p.S212Y	PNPLA4_uc011mhr.1_Missense_Mutation_p.S212Y|PNPLA4_uc011mhs.1_Missense_Mutation_p.S125Y	NM_004650	NP_001166143	P41247	PLPL4_HUMAN	Homo sapiens patatin-like phospholipase domain containing 4 (PNPLA4), transcript variant 1, mRNA.	212					lipid catabolic process		triglyceride lipase activity			kidney(1)|large_intestine(3)|lung(2)|prostate(1)	7		Colorectal(8;0.0329)|Medulloblastoma(8;0.232)				GTTTGCCAGGGACAACTAGAA	0.358000														27			16		6.49762e-13	8.04122e-13	1	1	0
SLC44A2	57153	broad.mit.edu	37	19	10746140	10746140	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10746140G>T	uc002mpf.3	+	13	1321	c.1182G>T	c.(1180-1182)aaG>aaT	p.K394N	SLC44A2_uc002mpe.4_Missense_Mutation_p.K392N|SLC44A2_uc002mpg.1_Missense_Mutation_p.K114N|SLC44A2_uc002mph.3_5'Flank	NM_020428	NP_065161	Q8IWA5	CTL2_HUMAN	Homo sapiens solute carrier family 44, member 2 (SLC44A2), transcript variant 1, mRNA.	394					positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane|plasma membrane	choline transmembrane transporter activity|signal transducer activity			NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27			Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		Choline(DB00122)	CGGTCTATAAGATCTTTGATG	0.572000														86			18		1.33834e-09	1.59673e-09	1	1	0
POMP	51371	broad.mit.edu	37	13	29242705	29242705	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:29242705G>T	uc001usf.3	+	3	439	c.258G>T	c.(256-258)gtG>gtT	p.V86V		NM_015932	NP_057016	Q9Y244	POMP_HUMAN	Homo sapiens proteasome maturation protein (POMP), mRNA.	86					proteasome assembly	cytosol|endoplasmic reticulum|membrane|microsome|nucleus|proteasome complex				endometrium(2)|kidney(1)|large_intestine(1)	4		Lung SC(185;0.0367)		all cancers(112;0.141)|OV - Ovarian serous cystadenocarcinoma(117;0.216)		TCAAGGCAGTGCAGCAGGTGA	0.378000														40			6		3.59834e-05	3.95114e-05	1	1	0
TYW1	55253	broad.mit.edu	37	7	66532333	66532333	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:66532333G>A	uc003tvn.3	+	9	1366	c.1217G>A	c.(1216-1218)cGc>cAc	p.R406H	TYW1_uc010lai.3_Non-coding_Transcript|TYW1_uc011kef.2_Missense_Mutation_p.R20H	NM_018264	NP_060734	Q9NV66	TYW1_HUMAN	Homo sapiens tRNA-yW synthesizing protein 1 homolog (S. cerevisiae) (TYW1), mRNA.	406					tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity	p.R406R(1)|p.R406G(1)		breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				GAGAGCCATCGCTGCATGGAA	0.413000														68			99		0	0	1	0	0
RGPD3	653489	broad.mit.edu	37	2	107075778	107075778	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:107075778C>T	uc010ywi.1	-	1	140	c.83G>A	c.(82-84)aGa>aAa	p.R28K		NM_001144013	NP_001137485	A6NKT7	RGPD3_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 3 (RGPD3), mRNA.	28					intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						ATAGAATCCTCTCGTTGACTT	0.259000														15			3		0	0	1	0	0
SMU1	55234	broad.mit.edu	37	9	33073796	33073796	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:33073796C>T	uc003zsf.1	-	1	143	c.35G>A	c.(34-36)cGc>cAc	p.R12H	SMU1_uc011lnu.1_Intron	NM_018225	NP_060695	Q2TAY7	SMU1_HUMAN	Homo sapiens smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans) (SMU1), mRNA.	12	LisH.					cytoplasm|nucleus				endometrium(2)|lung(4)|ovary(2)|prostate(1)	9			LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.11)		CATAATAAGGCGGATCACACT	0.443000														26			27		0	0	1	0	0
ATP6AP1	537	broad.mit.edu	37	X	153663813	153663813	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153663813C>T	uc004flf.1	+	8	1226	c.1165C>T	c.(1165-1167)Cag>Tag	p.Q389*	ATP6AP1_uc004flg.1_Non-coding_Transcript|ATP6AP1_uc004flh.1_Nonsense_Mutation_p.Q349*|GDI1_uc011mzo.1_5'Flank|GDI1_uc004fli.4_5'Flank	NM_001183	NP_001174	Q15904	VAS1_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal accessory protein 1 (ATP6AP1), mRNA.	389					ATP hydrolysis coupled proton transport	integral to membrane|proton-transporting V-type ATPase, V1 domain|vacuolar membrane	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(5)	14	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGCCCGCACGCAGCCCTCTCC	0.607000														37			5		0	0	1	0	0
GJA1	2697	broad.mit.edu	37	6	121768052	121768052	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:121768052C>T	uc003pyr.3	+	1	309	c.59C>T	c.(58-60)gCt>gTt	p.A20V	GJA1_uc011ebo.1_5'UTR|GJA1_uc011ebp.1_5'UTR|GJA1_uc021zel.1_Missense_Mutation_p.A20V	NM_000165	NP_000156	P17302	CXA1_HUMAN	Homo sapiens gap junction protein, alpha 1, 43kDa (GJA1), mRNA.	20					cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi-associated vesicle membrane|connexon complex|integral to plasma membrane|membrane raft	ion transmembrane transporter activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2)	33				GBM - Glioblastoma multiforme(226;0.00252)	Carvedilol(DB01136)	TACTCAACTGCTGGAGGGAAG	0.522000														65			50		0	0	1	0	0
MYH7	4625	broad.mit.edu	37	14	23894044	23894044	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:23894044C>A	uc001wjx.3	-	21	2719	c.2613G>T	c.(2611-2613)aaG>aaT	p.K871N		NM_000257	NP_000248	P12883	MYH7_HUMAN	Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA.	871					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CCTCCAGCTCCTTGCGGCGAG	0.587000														47			5		1.23904e-05	1.3743e-05	1	1	0
PRDM16	63976	broad.mit.edu	37	1	3322124	3322124	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:3322124C>T	uc001akf.3	+	7	1180	c.1098C>T	c.(1096-1098)caC>caT	p.H366H	PRDM16_uc001ake.3_Silent_p.H366H|PRDM16_uc009vlh.3_Silent_p.H67H|PRDM16_uc001akc.3_Silent_p.H366H	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN	Homo sapiens PR domain containing 16 (PRDM16), transcript variant 1, mRNA.	366					brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		CTCGGGCCCACGCCTGCCCCG	0.662000			T	EVI1	"""MDS, AML"""									18			12		0	0	1	0	0
SCN3A	6328	broad.mit.edu	37	2	165953937	165953937	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:165953937T>G	uc002ucx.3	-	22	4556	c.4064A>C	c.(4063-4065)aAt>aCt	p.N1355T	SCN3A_uc002ucy.3_Missense_Mutation_p.N1306T|SCN3A_uc002ucz.3_Missense_Mutation_p.N1306T|SCN3A_uc002uda.1_Missense_Mutation_p.N1175T|SCN3A_uc002udb.1_Missense_Mutation_p.N1175T	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	Homo sapiens sodium channel, voltage-gated, type III, alpha subunit (SCN3A), transcript variant 1, mRNA.	1355						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	AGCAAACAAATTCACACCCAT	0.423000														68			5		0	0	1	0	0
TMEM165	55858	broad.mit.edu	37	4	56290771	56290771	+	Nonsense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:56290771G>T	uc003hax.2	+	4	1126	c.859G>T	c.(859-861)Gga>Tga	p.G287*	TMEM165_uc011bzy.1_Nonsense_Mutation_p.G224*	NM_018475	NP_060945	Q9HC07	TM165_HUMAN	Homo sapiens transmembrane protein 165 (TMEM165), mRNA.	287						integral to membrane				endometrium(1)|kidney(1)|large_intestine(2)	4	Lung NSC(11;0.00545)|Glioma(25;0.08)|all_neural(26;0.101)|all_epithelial(27;0.135)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0103)			GGCAGTAATTGGAGGAAGAAT	0.443000														44			4		0.00024832	0.000267289	1	1	0
TPCN2	219931	broad.mit.edu	37	11	68855400	68855400	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:68855400G>A	uc001oos.2	+	24	2354	c.2238G>A	c.(2236-2238)ccG>ccA	p.P746P	TPCN2_uc010rqg.1_Silent_p.P564P|TPCN2_uc021qmo.1_Non-coding_Transcript	NM_139075	NP_620714	Q8NHX9	TPC2_HUMAN	Homo sapiens two pore segment channel 2 (TPCN2), mRNA.	746					cellular calcium ion homeostasis|smooth muscle contraction	endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GCCAGCACCCGCACCTGTGGC	0.642000														12			9		0	0	1	0	0
ORAI2	80228	broad.mit.edu	37	7	102087139	102087139	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:102087139C>T	uc010lhz.1	+	3	640	c.405C>T	c.(403-405)agC>agT	p.S135S	ORAI2_uc003uzj.2_Silent_p.S135S|ORAI2_uc003uzk.2_Silent_p.S135S|ORAI2_uc011kks.1_Silent_p.S58S	NM_001126340	NP_116220	Q96SN7	ORAI2_HUMAN	Homo sapiens ORAI calcium release-activated calcium modulator 2 (ORAI2), transcript variant 1, mRNA.	135						integral to membrane	protein binding			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15						ACTCCATCAGCGAGTCCCCGC	0.627000														52			92		0	0	1	0	0
HNRNPL	3191	broad.mit.edu	37	19	39306645	39306645	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:39306645C>T	uc002oji.3	-	8	819	c.734G>A	c.(733-735)cGg>cAg	p.R245Q	LGALS4_uc002ojg.3_5'Flank|LGALS4_uc010xuj.2_5'Flank	NM_001398	NP_001389	P14866	HNRPL_HUMAN	Homo sapiens enoyl CoA hydratase 1, peroxisomal (ECH1), mRNA.	0	RRM 2.				nuclear mRNA splicing, via spliceosome	cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	RNA binding|nucleotide binding|protein binding|transcription regulatory region DNA binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			TGGGAACACCCGGCTGCAGTG	0.617000														19			6		0	0	1	0	0
SPEN	23013	broad.mit.edu	37	1	16254739	16254739	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:16254739C>T	uc001axk.1	+	10	2208	c.2004C>T	c.(2002-2004)taC>taT	p.Y668Y	SPEN_uc010obp.1_Silent_p.Y627Y	NM_015001	NP_055816	Q96T58	MINT_HUMAN	Homo sapiens spen homolog, transcriptional regulator (Drosophila) (SPEN), mRNA.	668	Arg-rich.|Tyr-rich.				Notch signaling pathway|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding|protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		AAGGAGACTACTATGAATCAC	0.443000														109			11		0	0	1	0	0
KIAA1009	22832	broad.mit.edu	37	6	84865090	84865090	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:84865090G>T	uc010kbp.3	-	21	3018	c.2921C>A	c.(2920-2922)gCt>gAt	p.A974D	KIAA1009_uc003pkj.4_Missense_Mutation_p.A898D|KIAA1009_uc003pki.4_Missense_Mutation_p.A360D	NM_014895	NP_055710	Q5TB80	QN1_HUMAN	Homo sapiens KIAA1009 (KIAA1009), mRNA.	974					cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		CTCCAGATCAGCTTCTAGCTT	0.383000														48			16		6.31663e-08	7.34157e-08	1	1	0
GRHL2	79977	broad.mit.edu	37	8	102631870	102631870	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:102631870G>A	uc010mbu.3	+	8	1532	c.1202G>A	c.(1201-1203)cGt>cAt	p.R401H		NM_024915	NP_079191	Q6ISB3	GRHL2_HUMAN	Homo sapiens grainyhead-like 2 (Drosophila) (GRHL2), mRNA.	401						cytoplasm|nucleus	DNA binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			TATAACAATCGTAGCAATAAA	0.363000														58			31		0	0	1	0	0
KRT33B	3884	broad.mit.edu	37	17	39521689	39521689	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:39521689C>A	uc002hwl.3	-	3	750	c.705G>T	c.(703-705)ctG>ctT	p.L235L		NM_002279	NP_002270	Q14525	KT33B_HUMAN	Homo sapiens keratin 33B (KRT33B), mRNA.	235	Coil 2.|Rod.					intermediate filament	protein binding|structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000496)				TGGTTTCCACCAGGGCCTCAT	0.647000														17			13		3.32936e-07	3.81974e-07	1	1	0
GAA	2548	broad.mit.edu	37	17	78083763	78083763	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:78083763C>T	uc002jxp.3	+	8	1713	c.1346C>T	c.(1345-1347)tCg>tTg	p.S449L	GAA_uc002jxo.3_Missense_Mutation_p.S449L|GAA_uc002jxq.3_Missense_Mutation_p.S449L	NM_000152	NP_001073272	P10253	LYAG_HUMAN	Homo sapiens glucosidase, alpha; acid (GAA), transcript variant 1, mRNA.	449					cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)	ATCAGCAGCTCGGGCCCTGCC	0.647000														44			28		0	0	1	0	0
CNKSR2	22866	broad.mit.edu	37	X	21609230	21609230	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:21609230C>T	uc004czx.2	+	14	2228	c.1748C>T	c.(1747-1749)gCg>gTg	p.A583V	CNKSR2_uc004czw.3_Missense_Mutation_p.A583V|CNKSR2_uc011mjn.2_Missense_Mutation_p.A534V|CNKSR2_uc011mjo.2_Missense_Mutation_p.A553V|CNKSR2_uc004czy.3_Missense_Mutation_p.A175V	NM_014927	NP_055742	Q8WXI2	CNKR2_HUMAN	Homo sapiens connector enhancer of kinase suppressor of Ras 2 (CNKSR2), transcript variant 1, mRNA.	583	PH.				regulation of signal transduction	cytoplasm|membrane	protein binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						AAGAAAGATGCGAAGAGTTAC	0.403000														82			72		0	0	1	0	0
CNKSR3	154043	broad.mit.edu	37	6	154489055	154489055	+	Splice_Site	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:154489055C>A	uc021zhc.1	-	21	2992	c.2487_splice	c.e21+1	p.K829_splice	OPRM1_uc003qpt.1_Intron|CNKSR3_uc003qpv.3_Splice_Site_p.K238_splice|CNKSR3_uc003qpw.3_Splice_Site_p.K368_splice|CNKSR3_uc003qpx.3_Splice_Site_p.K367_splice|CNKSR3_uc010kjh.3_Splice_Site_p.K368_splice	NM_173515	NP_775786	Q6P9H4	CNKR3_HUMAN	Homo sapiens CNKSR family member 3 (CNKSR3), mRNA.	0					negative regulation of ERK1 and ERK2 cascade|negative regulation of peptidyl-serine phosphorylation|positive regulation of sodium ion transport	cytoplasm|membrane				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	15		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627)		ATTTTGTTACCTTTAATGTGC	0.388000														49			25		1.36565e-18	1.75266e-18	1	1	0
SACS	26278	broad.mit.edu	37	13	23909491	23909491	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:23909491T>C	uc001uon.2	-	9	9113	c.8524A>G	c.(8524-8526)Aac>Gac	p.N2842D	SACS_uc001uoo.2_Missense_Mutation_p.N2695D|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA.	2842					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|Hsp70 protein binding|chaperone binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		ATATCTTGGTTCTTGTGAGCT	0.393000														82			6		0	0	1	0	0
PYGB	5834	broad.mit.edu	37	20	25228967	25228967	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:25228967C>T	uc002wup.3	+	0	262	c.153C>T	c.(151-153)gaC>gaT	p.D51D		NM_002862	NP_002853	P11216	PYGB_HUMAN	Homo sapiens phosphorylase, glycogen; brain (PYGB), mRNA.	51					glucose metabolic process|glycogen catabolic process	cytoplasm	glycogen phosphorylase activity|pyridoxal phosphate binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31					Pyridoxal Phosphate(DB00114)	CGCCCCGCGACTACTTCTTCG	0.682000														5			7		0	0	1	0	0
ABCA1	19	broad.mit.edu	37	9	107581161	107581161	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:107581161C>T	uc004bcl.3	-	22	3649	c.3245G>A	c.(3244-3246)cGc>cAc	p.R1082H		NM_005502	NP_005493	O95477	ABCA1_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 1 (ABCA1), mRNA.	1082	ABC transporter 1.				Cdc42 protein signal transduction|G-protein coupled receptor protein signaling pathway|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	ATP binding|ATPase activity|anion transmembrane transporter activity|apolipoprotein A-I receptor activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	AATAATGGTGCGGCCTGCCAG	0.547000														14			10		0	0	1	0	0
CHPF2	54480	broad.mit.edu	37	7	150932416	150932416	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:150932416G>T	uc003wjr.1	+	1	2059	c.546G>T	c.(544-546)caG>caT	p.Q182H	CHPF2_uc003wjq.1_Missense_Mutation_p.Q174H	NM_019015	NP_061888	Q9P2E5	CHPF2_HUMAN	Homo sapiens chondroitin polymerizing factor 2 (CHPF2), mRNA.	182						Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3)	17						TCATCATGCAGGATGACACAT	0.602000														132			7		0.307466	0.308579	1	1	0
SORCS3	22986	broad.mit.edu	37	10	107023071	107023071	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:107023071G>A	uc001kyi.1	+	26	3835	c.3608G>A	c.(3607-3609)gGc>gAc	p.G1203D		NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA.	1203						integral to membrane	neuropeptide receptor activity	p.G1202R(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		TCTGCAGGAGGCATTGCCACT	0.468000														14			9		0	0	1	0	0
COL7A1	1294	broad.mit.edu	37	3	48605530	48605530	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:48605530C>T	uc003ctz.2	-	104	7869	c.7868G>A	c.(7867-7869)gGc>gAc	p.G2623D		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA.	2623	Triple-helical region.		G -> C (in PR-DEB; dominant).		cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	p.R2622L(1)		NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TACCTTGAGGCCCCGGGGACC	0.537000														44			19		0	0	1	0	0
DIO2	1734	broad.mit.edu	37	14	80669379	80669379	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:80669379C>T	uc021rxa.1	-	2	636	c.583G>A	c.(583-585)Gtc>Atc	p.V195I	DIO2_uc001xut.3_3'UTR|DIO2_uc010asx.3_3'UTR|DIO2_uc021rxb.1_Missense_Mutation_p.V159I|DIO2_uc010asy.3_Missense_Mutation_p.V159I	NM_001007023		Q92813	IOD2_HUMAN	Homo sapiens deiodinase, iodothyronine, type II (DIO2), transcript variant 3, mRNA.	159					hormone biosynthetic process|selenocysteine incorporation|thyroid hormone generation	integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(14)|skin(1)|stomach(1)	25				BRCA - Breast invasive adenocarcinoma(234;0.0281)		TCAATGTAGACCAGCAGGAAG	0.542000											OREG0022848	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		27			11		0	0	1	0	0
ABCC10	89845	broad.mit.edu	37	6	43410717	43410717	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:43410717C>A	uc003ouy.1	+	9	2451	c.2236C>A	c.(2236-2238)Ctc>Atc	p.L746I	ABCC10_uc003ouz.1_Missense_Mutation_p.L718I|ABCC10_uc010jyo.1_5'UTR	NM_001198934	NP_001185863	Q5T3U5	MRP7_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 10 (ABCC10), transcript variant MRP7, mRNA.	746	ABC transporter 1.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			GGAAAAGGAGCTCTATCTCCT	0.562000														26			11		4.3838e-07	5.01911e-07	1	1	0
MVD	4597	broad.mit.edu	37	16	88725119	88725119	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:88725119C>T	uc002flg.1	-	1	87	c.80G>A	c.(79-81)cGc>cAc	p.R27H	MVD_uc002flf.1_5'Flank	NM_002461	NP_002452	P53602	MVD1_HUMAN	Homo sapiens mevalonate (diphospho) decarboxylase (MVD), mRNA.	27					cholesterol biosynthetic process|positive regulation of cell proliferation	cytosol	ATP binding|Hsp70 protein binding|diphosphomevalonate decarboxylase activity|kinase activity|protein homodimerization activity			endometrium(3)|large_intestine(1)|lung(7)|ovary(1)	12				BRCA - Breast invasive adenocarcinoma(80;0.0478)		CTCTTCATCGCGCTTGCCCCC	0.637000														8			4		0	0	1	0	0
DOCK11	139818	broad.mit.edu	37	X	117718715	117718715	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:117718715C>T	uc004eqp.2	+	14	1676	c.1613C>T	c.(1612-1614)aCt>aTt	p.T538I	DOCK11_uc004eqq.2_Missense_Mutation_p.T304I	NM_144658	NP_653259	Q5JSL3	DOC11_HUMAN	Homo sapiens dedicator of cytokinesis 11 (DOCK11), mRNA.	538					blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						TTCAAAGATACTCAAGGCTCT	0.338000														52			37		0	0	1	0	0
WBP11	51729	broad.mit.edu	37	12	14952649	14952649	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:14952649C>T	uc001rci.3	-	3	271	c.110G>A	c.(109-111)cGc>cAc	p.R37H		NM_016312	NP_057396	Q9Y2W2	WBP11_HUMAN	Homo sapiens WW domain binding protein 11 (WBP11), mRNA.	37	Required for nuclear import (By similarity).				RNA splicing|mRNA processing|rRNA processing	cytoplasm	WW domain binding|single-stranded DNA binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)	30						AACCATCATGCGCTGTTTTTT	0.368000														16			12		0	0	1	0	0
SYNRG	11276	broad.mit.edu	37	17	35930816	35930816	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:35930816C>T	uc002hoa.3	-	9	1350	c.1267G>A	c.(1267-1269)Ggc>Agc	p.G423S	SYNRG_uc010wde.2_Missense_Mutation_p.G345S|SYNRG_uc010wdf.2_Missense_Mutation_p.G345S|SYNRG_uc002hoc.3_Missense_Mutation_p.G344S|SYNRG_uc002hoe.3_Missense_Mutation_p.G345S|SYNRG_uc002hod.3_Missense_Mutation_p.G345S|SYNRG_uc010wdg.2_Intron|SYNRG_uc002hob.3_Missense_Mutation_p.G423S|SYNRG_uc002hof.3_Missense_Mutation_p.G135S|SYNRG_uc010cvd.1_Missense_Mutation_p.G223S|SYNRG_uc002hog.1_Missense_Mutation_p.G557S	NM_007247	NP_009178	Q9UMZ2	SYNRG_HUMAN	Homo sapiens synergin, gamma (SYNRG), transcript variant 1, mRNA.	423					endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						AGGTTAATGCCCATGACTGGC	0.547000														20			17		0	0	1	0	0
CDH2	1000	broad.mit.edu	37	18	25572622	25572622	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:25572622G>A	uc002kwg.2	-	8	1800	c.1341C>T	c.(1339-1341)gtC>gtT	p.V447V	CDH2_uc010xbn.1_Silent_p.V416V	NM_001792	NP_001783	P19022	CADH2_HUMAN	Homo sapiens cadherin 2, type 1, N-cadherin (neuronal) (CDH2), mRNA.	447	Cadherin 3.				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CACTTACTTTGACCACGGTGA	0.527000														45			6		0	0	1	0	0
CUX1	1523	broad.mit.edu	37	7	101877506	101877506	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:101877506G>A	uc003uys.4	+	21	3768	c.3641G>A	c.(3640-3642)cGg>cAg	p.R1214Q	CUX1_uc003uyw.3_Intron|CUX1_uc003uyv.3_Intron|CUX1_uc003uyt.3_Intron|CUX1_uc003uyu.3_Intron|CUX1_uc011kkn.2_Intron|CUX1_uc003uyx.4_Missense_Mutation_p.R1203Q	NM_001202543	NP_001189472	P39880	CUX1_HUMAN	Homo sapiens cut-like homeobox 1 (CUX1), transcript variant 4, mRNA.	1203					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						GACATGAAACGGATGGAGAAG	0.547000														30			11		0	0	1	0	0
GIPR	2696	broad.mit.edu	37	19	46181440	46181440	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:46181440C>T	uc002pcu.1	+	11	1207	c.1108C>T	c.(1108-1110)Cgc>Tgc	p.R370C	GIPR_uc002pct.1_Missense_Mutation_p.R370C|GIPR_uc010xxp.1_Missense_Mutation_p.R334C|GIPR_uc010xxq.1_Non-coding_Transcript	NM_000164	NP_000155	P48546	GIPR_HUMAN	Homo sapiens gastric inhibitory polypeptide receptor (GIPR), mRNA.	370				GALRF -> APCV (in Ref. 3; CAA57426).	generation of precursor metabolites and energy|response to nutrient	integral to membrane|plasma membrane				endometrium(1)|kidney(2)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	12		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0056)|GBM - Glioblastoma multiforme(486;0.0832)|Epithelial(262;0.199)		GGGCGCCCTGCGCTTCGCCAA	0.677000														6			5		0	0	1	0	0
URB2	9816	broad.mit.edu	37	1	229794981	229794981	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:229794981C>T	uc001hts.1	+	9	4648	c.4512C>T	c.(4510-4512)ctC>ctT	p.L1504L	URB2_uc009xfd.1_Silent_p.L1504L	NM_014777	NP_055592	Q14146	URB2_HUMAN	Homo sapiens URB2 ribosome biogenesis 2 homolog (S. cerevisiae) (URB2), mRNA.	1504						nucleolus				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						TTAAGGAGCTCTATAATGACT	0.522000														122			94		0	0	1	0	0
MYF5	4617	broad.mit.edu	37	12	81111033	81111033	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:81111033C>T	uc001szg.2	+	0	326	c.191C>T	c.(190-192)gCt>gTt	p.A64V		NM_005593	NP_005584	P13349	MYF5_HUMAN	Homo sapiens myogenic factor 5 (MYF5), mRNA.	64					muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						CACCACCAGGCTGGTCACTGC	0.647000														14			9		0	0	1	0	0
ZNF232	7775	broad.mit.edu	37	17	5013046	5013046	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:5013046C>A	uc002gat.3	-	2	796	c.141G>T	c.(139-141)gaG>gaT	p.E47D	ZNF232_uc002gar.1_Missense_Mutation_p.E47D|ZNF232_uc010vsv.1_Missense_Mutation_p.E47D	NM_014519	NP_055334	Q9UNY5	ZN232_HUMAN	Homo sapiens zinc finger protein 232 (ZNF232), mRNA.	20					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|prostate(2)	11						TCATCATCTTCTCTTGTCCCT	0.512000														45			28		1.68575e-08	1.97895e-08	1	1	0
ALS2	57679	broad.mit.edu	37	2	202622249	202622249	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:202622249G>A	uc002uyo.3	-	4	1703	c.1347C>T	c.(1345-1347)agC>agT	p.S449S	ALS2_uc002uyp.4_Silent_p.S449S|ALS2_uc002uyq.3_Silent_p.S449S	NM_020919	NP_065970	Q96Q42	ALS2_HUMAN	Homo sapiens amyotrophic lateral sclerosis 2 (juvenile) (ALS2), transcript variant 1, mRNA.	449					cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity|protein homodimerization activity|protein serine/threonine kinase activator activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						GTTCTTCCCTGCTATCTTTCA	0.438000														85			39		0	0	1	0	0
TNS1	7145	broad.mit.edu	37	2	218745683	218745683	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:218745683T>C	uc002vgt.2	-	15	1390	c.992A>G	c.(991-993)gAc>gGc	p.D331G	TNS1_uc002vgr.2_Missense_Mutation_p.D331G|TNS1_uc002vgs.2_Missense_Mutation_p.D331G|TNS1_uc010zjv.1_Missense_Mutation_p.D331G|TNS1_uc010fvj.1_Missense_Mutation_p.D399G|TNS1_uc010fvk.1_Missense_Mutation_p.D456G|TNS1_uc002vgu.3_Missense_Mutation_p.D362G|TNS1_uc010fvi.1_Missense_Mutation_p.D18G	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN	Homo sapiens tensin 1 (TNS1), mRNA.	331						cytoplasm|cytoskeleton|focal adhesion	actin binding	p.S330S(1)		breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		GATGAGGGGGTCGGAGGTGTT	0.607000														34			12		0	0	1	0	0
EPHA2	1969	broad.mit.edu	37	1	16461639	16461639	+	Missense_Mutation	SNP	C	T	T	rs141123184		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:16461639C>T	uc001aya.2	-	6	1629	c.1474G>A	c.(1474-1476)Gtg>Atg	p.V492M		NM_004431	NP_004422	P29317	EPHA2_HUMAN	Homo sapiens EPH receptor A2 (EPHA2), mRNA.	492	Fibronectin type-III 2.				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	TCCAGGGTCACGGAGAAACCC	0.682000														107			56		0	0	1	0	0
TMEM38A	79041	broad.mit.edu	37	19	16791393	16791393	+	Splice_Site	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:16791393G>T	uc002nes.3	+	3	557	c.466_splice	c.e3+1	p.G156_splice		NM_024074	NP_076979	Q9H6F2	TM38A_HUMAN	Homo sapiens transmembrane protein 38A (TMEM38A), mRNA.	156						integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity			central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)	15						TGGGTCAAAGGTAAATAGGAT	0.532000														38			7		8.12818e-05	8.84769e-05	1	1	0
KATNB1	10300	broad.mit.edu	37	16	57790311	57790311	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:57790311C>T	uc002eml.1	+	18	2136	c.1762C>T	c.(1762-1764)Cgg>Tgg	p.R588W		NM_005886	NP_005877	Q9BVA0	KTNB1_HUMAN	Homo sapiens katanin p80 (WD repeat containing) subunit B 1 (KATNB1), mRNA.	588	Interaction with KATNA1 and NDEL1 (By similarity).				cell division|mitosis|negative regulation of microtubule depolymerization|positive regulation of microtubule depolymerization|protein targeting	katanin complex|microtubule|spindle pole	microtubule binding|protein heterodimerization activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_neural(199;0.223)				GATCCTGCAGCGGTTTCTGCC	0.597000														87			45		0	0	1	0	0
CEP112	201134	broad.mit.edu	37	17	63898328	63898328	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:63898328C>T	uc002jfl.3	-	19	2324	c.2105G>A	c.(2104-2106)cGc>cAc	p.R702H	CEP112_uc010deo.3_Missense_Mutation_p.R444H|CEP112_uc002jfm.3_Missense_Mutation_p.R702H|CEP112_uc010dep.2_Missense_Mutation_p.R660H	NM_145036	NP_659473	Q8N8E3	CE112_HUMAN	Homo sapiens centrosomal protein 112kDa (CEP112), transcript variant 1, mRNA.	702						centrosome		p.R702C(1)		NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	28						ATTGGCAGCGCGAAGCTGTTT	0.413000														52			4		0	0	1	0	0
MBTPS2	51360	broad.mit.edu	37	X	21900676	21900676	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:21900676A>G	uc004dae.3	+	10	1660	c.1463A>G	c.(1462-1464)gAt>gGt	p.D488G	MBTPS2_uc010nfr.3_Missense_Mutation_p.D81G	NM_015884	NP_056968	O43462	MBTP2_HUMAN	Homo sapiens membrane-bound transcription factor peptidase, site 2 (MBTPS2), mRNA.	488					cholesterol metabolic process|proteolysis	Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity			breast(2)|endometrium(3)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24						GGAGACAATGATGTCAAAGAT	0.453000														110			64		0	0	1	0	0
TOP2A	7153	broad.mit.edu	37	17	38560744	38560744	+	Splice_Site	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:38560744C>A	uc002huq.3	-	18	2206	c.2047_splice	c.e18-1	p.D683_splice	RARA_uc021txb.1_Intron	NM_001067	NP_001058	P11388	TOP2A_HUMAN	Homo sapiens topoisomerase (DNA) II alpha 170kDa (TOP2A), mRNA.	683					DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|apoptotic chromosome condensation|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation	DNA topoisomerase complex (ATP-hydrolyzing)|cytoplasm|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|chromatin binding|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	ACAAGTAATCCTGAAGGACCA	0.333000														30			16		1.3612e-06	1.54683e-06	1	1	0
ABHD12B	145447	broad.mit.edu	37	14	51347289	51347289	+	Splice_Site	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:51347289G>T	uc001wys.3	+	4	470	c.455_splice	c.e4+1	p.R152_splice	ABHD12B_uc001wyr.3_Splice_Site_p.R75_splice|ABHD12B_uc001wyq.3_Splice_Site_p.R45_splice|ABHD12B_uc010any.3_Splice_Site	NM_001206673	NP_001193602	Q7Z5M8	AB12B_HUMAN	Homo sapiens abhydrolase domain containing 12B (ABHD12B), transcript variant 1, mRNA.	152							hydrolase activity			breast(2)|endometrium(1)|large_intestine(2)|lung(5)	10	all_epithelial(31;0.00481)|Breast(41;0.148)					GCAGAACACAGGTCAGTGGCT	0.483000														125			9		4.68919e-08	5.46558e-08	1	1	0
MYH11	4629	broad.mit.edu	37	16	15814828	15814828	+	Silent	SNP	G	A	A	rs141031021	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:15814828G>A	uc002ddx.3	-	33	4787	c.4680C>T	c.(4678-4680)gaC>gaT	p.D1560D	MYH11_uc002ddv.3_Silent_p.D1560D|MYH11_uc002ddw.3_Silent_p.D1553D|MYH11_uc002ddy.3_Silent_p.D1553D|MYH11_uc010bvg.3_Silent_p.D1385D|NDE1_uc010uzy.2_Intron|NDE1_uc002dds.3_Intron|MYH11_uc010bvh.3_Silent_p.D259D|NDE1_uc002ddz.1_5'Flank	NM_001040114	NP_001035203	P35749	MYH11_HUMAN	Homo sapiens myosin, heavy chain 11, smooth muscle (MYH11), transcript variant SM1B, mRNA.	1553					axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						CTTGCAGCTCGTCCTCCAGCT	0.632000			T	CBFB	AML									70			28		0	0	1	0	0
SART1	9092	broad.mit.edu	37	11	65734851	65734851	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:65734851C>A	uc001ogl.3	+	9	1402	c.1310C>A	c.(1309-1311)tCc>tAc	p.S437Y	SART1_uc010rot.1_3'UTR	NM_005146	NP_005137	O43290	SNUT1_HUMAN	Homo sapiens squamous cell carcinoma antigen recognized by T cells (SART1), mRNA.	437					cell cycle arrest|induction of apoptosis by intracellular signals|positive regulation of cytotoxic T cell differentiation|spliceosomal snRNP assembly	Cajal body|catalytic step 2 spliceosome|cytosol				endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						GACTTTGGTTCCAGGTGGGCT	0.632000														101			58		2.3441e-25	3.06794e-25	1	1	0
PIWIL2	55124	broad.mit.edu	37	8	22211839	22211839	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:22211839C>T	uc003xbn.2	+	21	2861	c.2713C>T	c.(2713-2715)Cat>Tat	p.H905Y	PIWIL2_uc011kzf.1_Intron|PIWIL2_uc010ltv.2_Missense_Mutation_p.H905Y|PIWIL2_uc003xbo.2_Missense_Mutation_p.H59Y	NM_018068	NP_060538	Q8TC59	PIWL2_HUMAN	Homo sapiens piwi-like 2 (Drosophila) (PIWIL2), transcript variant 2, mRNA.	905	Piwi.				DNA methylation involved in gamete generation|RNA 5'-end processing|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|spermatogenesis	chromatoid body|pi-body	piRNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		CATTCCTACGCATTATGTCTG	0.458000														53			6		0	0	1	0	0
MUC15	143662	broad.mit.edu	37	11	26582625	26582625	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:26582625C>T	uc001mqw.3	-	4	1346	c.1073G>A	c.(1072-1074)cGt>cAt	p.R358H	ANO3_uc010rdr.2_Intron|ANO3_uc001mqt.4_Intron|ANO3_uc010rds.2_Intron|ANO3_uc010rdt.2_Intron|MUC15_uc001mqx.3_Missense_Mutation_p.R331H|MUC15_uc001mqy.3_Missense_Mutation_p.R308H	NM_001135091	NP_663625	Q8N387	MUC15_HUMAN	Homo sapiens mucin 15, cell surface associated (MUC15), transcript variant 1, mRNA.	331						extracellular region|integral to membrane|plasma membrane		p.R331H(2)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						TACAGAAGTACGAAGTGGAGG	0.378000														54			32		0	0	1	0	0
ETS1	2113	broad.mit.edu	37	11	128426321	128426321	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:128426321G>A	uc001qej.2	-	2	164	c.79C>T	c.(79-81)Cct>Tct	p.P27S		NM_001143820	NP_001137292	P14921	ETS1_HUMAN	Homo sapiens v-ets erythroblastosis virus E26 oncogene homolog 1 (avian) (ETS1), transcript variant 1, mRNA.	0					PML body organization|cell motility|immune response|induction of apoptosis|negative regulation of cell cycle|negative regulation of cell proliferation|positive regulation of cellular component movement|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|response to antibiotic|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|pleura(1)|prostate(1)|upper_aerodigestive_tract(3)	35	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)		GTGTTGCTAGGTCCTTGCCTC	0.393000														19			23		0	0	1	0	0
UHMK1	127933	broad.mit.edu	37	1	162470727	162470727	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:162470727G>A	uc001gcc.2	+	2	782	c.586G>A	c.(586-588)Ggg>Agg	p.G196R	UHMK1_uc001gcd.3_Missense_Mutation_p.G122R|UHMK1_uc009wuu.2_Missense_Mutation_p.G196R	NM_175866	NP_787062	Q8TAS1	UHMK1_HUMAN	Homo sapiens U2AF homology motif (UHM) kinase 1 (UHMK1), transcript variant 1, mRNA.	196	Protein kinase.				cell cycle arrest|neuron projection development|peptidyl-serine phosphorylation|positive regulation of translational initiation|protein autophosphorylation|regulation of protein export from nucleus	axon|dendrite cytoplasm|neuronal RNA granule|nucleus	RNA binding|protein binding|protein serine/threonine kinase activity|ribonucleoprotein binding			endometrium(1)|large_intestine(2)|lung(6)|prostate(2)	11	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			TCAGACAGACGGGTATCGGGC	0.423000														29			15		0	0	1	0	0
IBTK	25998	broad.mit.edu	37	6	82933169	82933169	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:82933169T>C	uc003pjl.1	-	7	1639	c.1112A>G	c.(1111-1113)aAg>aGg	p.K371R	IBTK_uc011dyv.1_Missense_Mutation_p.K371R|IBTK_uc011dyw.1_Missense_Mutation_p.K371R|IBTK_uc010kbi.1_Missense_Mutation_p.K65R|IBTK_uc003pjm.2_Missense_Mutation_p.K371R	NM_015525	NP_056340	Q9P2D0	IBTK_HUMAN	Homo sapiens inhibitor of Bruton agammaglobulinemia tyrosine kinase (IBTK), mRNA.	371					negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity			central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		AGAAGCCATCTTCTTGCACTG	0.368000														52			6		0	0	1	0	0
C9orf172	389813	broad.mit.edu	37	9	139741107	139741107	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:139741107C>T	uc011meh.2	+	0	2241	c.2241C>T	c.(2239-2241)cgC>cgT	p.R747R	PHPT1_uc011mei.2_5'Flank|PHPT1_uc004cjq.4_5'Flank	NM_001080482	NP_001073951	C9J069	CI172_HUMAN	Homo sapiens chromosome 9 open reading frame 172 (C9orf172), mRNA.	747										endometrium(2)|large_intestine(1)|lung(6)	9						TCCTGTCGCGCGGCCGCGGCG	0.687000														10			3		0	0	1	0	0
TLL2	7093	broad.mit.edu	37	10	98146790	98146790	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:98146790C>T	uc001kml.2	-	13	2013	c.1772G>A	c.(1771-1773)cGc>cAc	p.R591H		NM_012465	NP_036597	Q9Y6L7	TLL2_HUMAN	Homo sapiens tolloid-like 2 (TLL2), mRNA.	591	EGF-like 1; calcium-binding (Potential).			EVDECSWPDHGGCEHRCV -> GKKKKKKKKKKKKKKKKK (in Ref. 5; AAH13871).	cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.R591S(1)		NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		GTTCACACAGCGATGCTCGCA	0.592000														22			17		0	0	1	0	0
SLC40A1	30061	broad.mit.edu	37	2	190428487	190428487	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:190428487G>A	uc002uqp.4	-	6	1576	c.1225C>T	c.(1225-1227)Cga>Tga	p.R409*		NM_014585	NP_055400	Q9NP59	S40A1_HUMAN	Homo sapiens solute carrier family 40 (iron-regulated transporter), member 1 (SLC40A1), mRNA.	409					anatomical structure morphogenesis|cellular iron ion homeostasis	cytoplasm|integral to plasma membrane	iron ion transmembrane transporter activity|protein binding			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491)			AACCTTGATCGGATATCTTCA	0.408000														38			28		0	0	1	0	0
ERCC6	2074	broad.mit.edu	37	10	50667171	50667171	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:50667171G>A	uc001jhs.4	-	20	4326	c.4172C>T	c.(4171-4173)gCt>gTt	p.A1391V	ERCC6_uc009xod.3_Missense_Mutation_p.A551V|ERCC6_uc010qgr.2_Missense_Mutation_p.A761V|ERCC6_uc001jhr.4_Missense_Mutation_p.A759V	NM_000124	NP_000115	Q03468	ERCC6_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 6 (ERCC6), mRNA.	1391					base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|DNA binding|DNA-dependent ATPase activity|chromatin binding|helicase activity|protein C-terminus binding|protein N-terminus binding|protein complex binding			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						TCTCATTTTAGCCAAGAGTGA	0.507000								Direct reversal of damage;Nucleotide excision repair (NER)						111			17		0	0	1	0	0
APCDD1L	164284	broad.mit.edu	37	20	57036050	57036050	+	Missense_Mutation	SNP	A	T	T	rs143927973		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:57036050A>T	uc010zzp.1	-	4	1659	c.1335T>A	c.(1333-1335)gaT>gaA	p.D445E	APCDD1L_uc002xze.1_Missense_Mutation_p.D434E	NM_153360	NP_699191	Q8NCL9	APCDL_HUMAN	Homo sapiens adenomatosis polyposis coli down-regulated 1-like (APCDD1L), mRNA.	434						integral to membrane				large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(1)	18	Lung NSC(12;0.000856)|all_lung(29;0.0025)		BRCA - Breast invasive adenocarcinoma(13;5.6e-11)|Epithelial(14;1.67e-07)|all cancers(14;1.48e-06)			GACTTGAGCCATCGGTGGGCC	0.622000														97			7		0	0	1	0	0
SLC37A1	54020	broad.mit.edu	37	21	43987140	43987140	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:43987140T>G	uc002zbj.3	+	15	2298	c.1316T>G	c.(1315-1317)cTc>cGc	p.L439R	SLC37A1_uc002zbi.3_Missense_Mutation_p.L439R	NM_018964	NP_061837	P57057	GLPT_HUMAN	Homo sapiens solute carrier family 37 (glycerol-3-phosphate transporter), member 1 (SLC37A1), mRNA.	439					carbohydrate transport|transmembrane transport	integral to membrane				breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(3)	15						CCCTACACACTCATCACCACC	0.622000														18			13		0	0	1	0	0
CKAP5	9793	broad.mit.edu	37	11	46812059	46812059	+	Missense_Mutation	SNP	T	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:46812059T>A	uc001ndi.2	-	13	1851	c.1725A>T	c.(1723-1725)aaA>aaT	p.K575N	CKAP5_uc009ylg.1_Missense_Mutation_p.K461N|CKAP5_uc001ndj.2_Missense_Mutation_p.K575N	NM_001008938	NP_001008938	Q14008	CKAP5_HUMAN	Homo sapiens cytoskeleton associated protein 5 (CKAP5), transcript variant 1, mRNA.	575					G2/M transition of mitotic cell cycle|RNA transport|cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|mitotic prometaphase|spindle organization	centrosome|cytosol	protein binding			breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						TCTCCAGTCCTTTCTTGTTCT	0.443000														52			28		0	0	1	0	0
ELF2	1998	broad.mit.edu	37	4	139981701	139981701	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:139981701C>A	uc003ihp.1	-	7	1149	c.898G>T	c.(898-900)Gca>Tca	p.A300S	ELF2_uc003ihm.1_Missense_Mutation_p.A252S|ELF2_uc003ihn.1_Missense_Mutation_p.A240S|ELF2_uc003iho.1_Missense_Mutation_p.A223S|ELF2_uc011chc.1_Missense_Mutation_p.A115S	NM_201999	NP_973728	Q15723	ELF2_HUMAN	Homo sapiens E74-like factor 2 (ets domain transcription factor) (ELF2), transcript variant 1, mRNA.	312					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	19	all_hematologic(180;0.162)					GTAGTTCCTGCTAAATCTTCA	0.403000														132			10		2.17888e-05	2.40634e-05	1	1	0
TAS2R30	259293	broad.mit.edu	37	12	11286804	11286804	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:11286804C>A	uc009zhs.1	-	0	40	c.40G>T	c.(40-42)Gtg>Ttg	p.V14L	PRH1_uc001qzb.4_Intron|TAS2R14_uc021qve.1_Intron|PRH1_uc021qvg.1_Intron|PRB4_uc001qzf.1_Intron|TAS2R14_uc001qzj.3_Intron	NM_001097643	NP_001091112			Homo sapiens taste receptor, type 2, member 30 (TAS2R30), mRNA.											autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	13						AATATAACCACTATTAGAATG	0.328000														20			10		5.50884e-06	6.15991e-06	1	1	0
DDAH2	23564	broad.mit.edu	37	6	31696257	31696257	+	Nonsense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31696257C>A	uc003nwp.3	-	2	1073	c.442G>T	c.(442-444)Gga>Tga	p.G148*	DDAH2_uc003nwq.3_Nonsense_Mutation_p.G148*	NM_013974	NP_039268	O95865	DDAH2_HUMAN	Homo sapiens dimethylarginine dimethylaminohydrolase 2 (DDAH2), mRNA.	148					anti-apoptosis|arginine catabolic process|citrulline metabolic process|nitric oxide biosynthetic process|nitric oxide mediated signal transduction	cytoplasm	dimethylargininase activity|protein binding			endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	11					L-Citrulline(DB00155)	ATCTCAGCTCCTCGGTGATTG	0.662000														23			4		0.184627	0.186034	1	1	0
MYO1A	4640	broad.mit.edu	37	12	57441824	57441824	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57441824T>C	uc001smw.4	-	2	419	c.179A>G	c.(178-180)gAg>gGg	p.E60G	MYO1A_uc010sqz.2_5'Flank|MYO1A_uc009zpd.3_Missense_Mutation_p.E60G	NM_005379	NP_005370	Q9UBC5	MYO1A_HUMAN	Homo sapiens myosin IA (MYO1A), transcript variant 2, mRNA.	60	Myosin head-like.				sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	ATP binding|actin binding|calmodulin binding|motor activity	p.P59S(1)		breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						GGCAATGAACTCTGGCCCATA	0.493000														61			4		0	0	1	0	0
C9orf84	158401	broad.mit.edu	37	9	114454223	114454223	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:114454223G>T	uc004bfr.3	-	24	3977	c.3842C>A	c.(3841-3843)cCt>cAt	p.P1281H	C9orf84_uc011lwt.2_Non-coding_Transcript|C9orf84_uc004bfq.3_Missense_Mutation_p.P1242H|C9orf84_uc010mug.3_Missense_Mutation_p.P1192H	NM_173521	NP_775792	Q5VXU9	CI084_HUMAN	Homo sapiens chromosome 9 open reading frame 84 (C9orf84), transcript variant 1, mRNA.	1281										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						TGAAAAGATAGGGTCCGATAC	0.383000														48			4		2.56e-06	2.88678e-06	1	1	0
ZIK1	284307	broad.mit.edu	37	19	58102102	58102102	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58102102C>A	uc002qpg.3	+	3	1020	c.923C>A	c.(922-924)tCc>tAc	p.S308Y	ZIK1_uc002qph.3_Missense_Mutation_p.S253Y|ZIK1_uc002qpi.3_Missense_Mutation_p.S295Y|ZIK1_uc002qpj.3_Missense_Mutation_p.S205Y	NM_001010879	NP_001010879	Q3SY52	ZIK1_HUMAN	Homo sapiens zinc finger protein interacting with K protein 1 homolog (mouse) (ZIK1), mRNA.	308					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	34		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		AGACAAAACTCCAGCCTTGTT	0.453000														36			6		0.0215528	0.0220531	1	1	0
TMPRSS13	84000	broad.mit.edu	37	11	117776418	117776418	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:117776418C>T	uc001prs.2	-	9	1462	c.1316G>A	c.(1315-1317)gGa>gAa	p.G439E	TMPRSS13_uc009yzr.2_Missense_Mutation_p.G404E|TMPRSS13_uc021qrc.1_Missense_Mutation_p.G439E|TMPRSS13_uc001prt.1_Missense_Mutation_p.G118E	NM_001077263	NP_001070731	Q9BYE2	TMPSD_HUMAN	Homo sapiens transmembrane protease, serine 13 (TMPRSS13), transcript variant 1, mRNA.	434	Peptidase S1.				proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106)		AAAGGTCTGTCCATGCATGGG	0.522000														9			4		0	0	1	0	0
ZC3H14	79882	broad.mit.edu	37	14	89038558	89038558	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:89038558C>T	uc001xww.3	+	4	645	c.420C>T	c.(418-420)acC>acT	p.T140T	ZC3H14_uc010twd.2_Silent_p.T140T|ZC3H14_uc010twe.2_Silent_p.T140T|ZC3H14_uc001xwx.3_Silent_p.T140T|ZC3H14_uc010twf.2_5'UTR|ZC3H14_uc001xwy.3_Silent_p.T106T|ZC3H14_uc010twg.2_5'Flank	NM_024824	NP_079100	Q6PJT7	ZC3HE_HUMAN	Homo sapiens zinc finger CCCH-type containing 14 (ZC3H14), transcript variant 1, mRNA.	140						cytoplasm|nuclear speck	RNA binding|protein binding|zinc ion binding			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						AGTCAAAAACCACAAATGTCA	0.448000														27			7		0	0	1	0	0
SCARA3	51435	broad.mit.edu	37	8	27516827	27516827	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:27516827C>T	uc003xga.1	+	4	1281	c.1140C>T	c.(1138-1140)gaC>gaT	p.D380D	SCARA3_uc003xgb.1_Silent_p.D380D	NM_016240	NP_057324	Q6AZY7	SCAR3_HUMAN	Homo sapiens scavenger receptor class A, member 3 (SCARA3), transcript variant 1, mRNA.	380					UV protection|response to oxidative stress	Golgi membrane|collagen|endoplasmic reticulum membrane|integral to membrane	scavenger receptor activity			breast(1)|large_intestine(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	9		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Colorectal(74;0.148)		ACCTGGATGACGTGCGGCTCT	0.557000														24			22		0	0	1	0	0
IFT140	9742	broad.mit.edu	37	16	1570040	1570040	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:1570040A>G	uc002cmb.3	-	28	4244	c.3882T>C	c.(3880-3882)atT>atC	p.I1294I	IFT140_uc002clz.3_Silent_p.I907I	NM_014714	NP_055529	Q96RY7	IF140_HUMAN	Homo sapiens intraflagellar transport 140 homolog (Chlamydomonas) (IFT140), mRNA.	1294										breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				GGTATTCATCAATCTCCACCT	0.647000														26			16		0	0	1	0	0
PDP1	54704	broad.mit.edu	37	8	94934696	94934696	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:94934696G>T	uc011lgn.2	+	1	635	c.586G>T	c.(586-588)Ggg>Tgg	p.G196W	PDP1_uc003ygf.3_Missense_Mutation_p.G162W|PDP1_uc003yge.3_Missense_Mutation_p.G137W|PDP1_uc010max.3_Missense_Mutation_p.G162W|PDP1_uc011lgm.2_Missense_Mutation_p.G137W|PDP1_uc022ayg.1_Missense_Mutation_p.G137W	NM_001161778	NP_001155250	Q9P0J1	PDP1_HUMAN	Homo sapiens pyruvate dehyrogenase phosphatase catalytic subunit 1 (PDP1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	137					pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|protein serine/threonine phosphatase complex	[pyruvate dehydrogenase (lipoamide)] phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18						GCAGACCAGAGGGATGCTTTT	0.473000														65			6		0.00116845	0.00123466	1	1	0
C7orf58	79974	broad.mit.edu	37	7	120739988	120739988	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:120739988C>T	uc003vjq.4	+	6	1205	c.758C>T	c.(757-759)aCg>aTg	p.T253M	C7orf58_uc003vjr.1_Missense_Mutation_p.T253M|C7orf58_uc003vjs.4_Missense_Mutation_p.T253M|C7orf58_uc003vjt.4_Missense_Mutation_p.T33M|C7orf58_uc010lkk.2_Missense_Mutation_p.T33M	NM_024913	NP_079189	A4D0V7	CG058_HUMAN	Homo sapiens chromosome 7 open reading frame 58 (C7orf58), transcript variant 1, mRNA.	253						endoplasmic reticulum				breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	66	all_neural(327;0.117)					AGGAATGAAACGACAGTCCTT	0.378000														64			14		0	0	1	0	0
SF3B1	23451	broad.mit.edu	37	2	198265071	198265071	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:198265071C>T	uc002uue.3	-	18	2854	c.2806G>A	c.(2806-2808)Gtt>Att	p.V936I	SNORD2_uc021vul.1_5'Flank	NM_012433	NP_036565	O75533	SF3B1_HUMAN	Homo sapiens splicing factor 3b, subunit 1, 155kDa (SF3B1), transcript variant 1, mRNA.	936					nuclear mRNA splicing, via spliceosome	U12-type spliceosomal complex|catalytic step 2 spliceosome|nuclear speck	protein binding			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			CGCCACAAAACTGTACCACAG	0.403000			Mis		myelodysplastic syndrome									54			46		0	0	1	0	0
DCLK3	85443	broad.mit.edu	37	3	36763110	36763110	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:36763110G>A	uc003cgi.2	-	2	1984	c.1493C>T	c.(1492-1494)gCt>gTt	p.A498V		NM_033403	NP_208382	Q9C098	DCLK3_HUMAN	Homo sapiens doublecortin-like kinase 3 (DCLK3), mRNA.	498	Protein kinase.					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						TCCAAAATCAGCCAATTTCAA	0.408000														38			29		0	0	1	0	0
CCDC134	79879	broad.mit.edu	37	22	42206291	42206291	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:42206291G>T	uc003bbh.1	+	3	415	c.306G>T	c.(304-306)aaG>aaT	p.K102N	bK250D10.C22.8_uc003bba.1_Intron|CCDC134_uc011apg.1_Intron	NM_024821	NP_079097	Q9H6E4	CC134_HUMAN	Homo sapiens coiled-coil domain containing 134 (CCDC134), mRNA.	102						extracellular region				large_intestine(1)|lung(2)|ovary(2)|skin(1)	6						AGAAGCTGAAGGATGGTATGG	0.617000														14			5		0.184627	0.186034	1	1	0
TPH2	121278	broad.mit.edu	37	12	72425324	72425324	+	Missense_Mutation	SNP	G	A	A	rs120074175		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:72425324G>A	uc009zrw.1	+	10	1463	c.1322G>A	c.(1321-1323)cGt>cAt	p.R441H	TPH2_uc001swy.2_Missense_Mutation_p.R351H	NM_173353	NP_775489	Q8IWU9	TPH2_HUMAN	Homo sapiens tryptophan hydroxylase 2 (TPH2), mRNA.	441			R -> H (may be due to a rare RNA editing event; functional polymorphism linked with susceptibility to major depressive disorder; 80% loss of function; decreases solubility; decreases thermal stability; reduces catalytic activity).		aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	TCAATTACCCGTCCCTTCTCA	0.418000														28			22		0	0	1	0	0
DCUN1D4	23142	broad.mit.edu	37	4	52729856	52729856	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:52729856C>T	uc011bzo.2	+	2	256	c.249C>T	c.(247-249)ggC>ggT	p.G83G	DCUN1D4_uc003gze.3_Silent_p.G39G|DCUN1D4_uc003gzf.3_Silent_p.G39G|DCUN1D4_uc011bzn.2_5'UTR|DCUN1D4_uc003gzg.3_Non-coding_Transcript|DCUN1D4_uc003gzh.3_Intron	NM_001040402	NP_001035492	Q92564	DCNL4_HUMAN	Homo sapiens DCN1, defective in cullin neddylation 1, domain containing 4 (S. cerevisiae) (DCUN1D4), transcript variant 1, mRNA.	39										endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)	9			GBM - Glioblastoma multiforme(4;1.93e-11)|LUSC - Lung squamous cell carcinoma(32;0.00654)			AAGACATTGGCCAAGACGATC	0.323000														35			19		0	0	1	0	0
TRIM47	91107	broad.mit.edu	37	17	73871043	73871043	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:73871043C>A	uc002jpw.3	-	5	1465	c.1438G>T	c.(1438-1440)Ggc>Tgc	p.G480C	TRIM47_uc002jpv.3_Missense_Mutation_p.G242C	NM_033452	NP_258411	Q96LD4	TRI47_HUMAN	Homo sapiens tripartite motif containing 47 (TRIM47), mRNA.	480	B30.2/SPRY.					cytoplasm|nucleus	zinc ion binding			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22			Epithelial(20;4.23e-06)|all cancers(21;5.24e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)			TAGTAGGTGCCTCGGTCCAGG	0.622000														34			4		0.150653	0.152248	1	1	0
NOX1	27035	broad.mit.edu	37	X	100105197	100105197	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:100105197C>T	uc004egj.3	-	8	1282	c.1076G>A	c.(1075-1077)gGg>gAg	p.G359E	NOX1_uc004egl.4_Missense_Mutation_p.G359E|NOX1_uc010nne.3_Missense_Mutation_p.G322E	NM_007052	NP_008983	Q9Y5S8	NOX1_HUMAN	Homo sapiens NADPH oxidase 1 (NOX1), transcript variant NOH-1L, mRNA.	359	FAD-binding FR-type.				FADH2 metabolic process|angiogenesis|cell migration|electron transport chain|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation	NADPH oxidase complex|cell junction|early endosome|invadopodium membrane	Rac GTPase binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity			cervix(1)|lung(3)|ovary(1)|skin(2)	7						TGTCCAGTCCCCTGCTGCTCG	0.473000														49			5		0	0	1	0	0
DENND2A	27147	broad.mit.edu	37	7	140244525	140244525	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:140244525G>A	uc010lnk.3	-	13	2740	c.2220C>T	c.(2218-2220)caC>caT	p.H740H	DENND2A_uc011kre.2_Non-coding_Transcript|DENND2A_uc010lnj.3_Silent_p.H740H|DENND2A_uc003vvw.3_Silent_p.H740H|DENND2A_uc003vvx.3_Silent_p.H740H	NM_015689	NP_056504	Q9ULE3	DEN2A_HUMAN	Homo sapiens DENN/MADD domain containing 2A (DENND2A), mRNA.	740	DENN.									breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					CAAAGTCCACGTGCTCGAGCC	0.617000														7			7		0	0	1	0	0
SLC4A4	8671	broad.mit.edu	37	4	72412185	72412185	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:72412185G>A	uc010iic.3	+	18	2678	c.2561G>A	c.(2560-2562)aGt>aAt	p.S854N	SLC4A4_uc003hfy.3_Missense_Mutation_p.S854N|SLC4A4_uc010iib.3_Intron|SLC4A4_uc003hfz.3_Missense_Mutation_p.S854N|SLC4A4_uc003hgc.4_Missense_Mutation_p.S810N|SLC4A4_uc010iid.3_Missense_Mutation_p.S58N	NM_001134742	NP_001128214	Q9Y6R1	S4A4_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 4 (SLC4A4), transcript variant 3, mRNA.	854						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			CACATCGACAGTTTGAAGATG	0.478000														37			22		0	0	1	0	0
ULBP3	79465	broad.mit.edu	37	6	150390163	150390163	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:150390163C>T	uc003qns.3	-	0	121	c.40G>A	c.(40-42)Gcg>Acg	p.A14T	ULBP3_uc011eek.1_Missense_Mutation_p.A14T	NM_024518	NP_078794	Q9BZM4	N2DL3_HUMAN	Homo sapiens UL16 binding protein 3 (ULBP3), mRNA.	14					antigen processing and presentation|immune response|natural killer cell activation	MHC class I protein complex|anchored to membrane	MHC class I receptor activity			central_nervous_system(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	9		Ovarian(120;0.12)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.45e-12)		GGAAGAATCGCGAGGCGCGGA	0.677000														3			9		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13708294	13708294	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:13708294C>T	uc003jfd.2	-	75	13318	c.13276G>A	c.(13276-13278)Gaa>Aaa	p.E4426K	DNAH5_uc003jfc.2_Missense_Mutation_p.E594K	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	4426					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CGCAGATTTTCGCTCATGATG	0.463000									Kartagener syndrome					101			61		0	0	1	0	0
P4HB	5034	broad.mit.edu	37	17	79803050	79803050	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:79803050G>A	uc002kbn.1	-	9	1613	c.1416C>T	c.(1414-1416)agC>agT	p.S472S	P4HB_uc002kbl.1_Silent_p.S149S|P4HB_uc002kbm.1_Silent_p.S149S	NM_000918	NP_000909	P07237	PDIA1_HUMAN	Homo sapiens prolyl 4-hydroxylase, beta polypeptide (P4HB), mRNA.	472	Thioredoxin 2.				cell redox homeostasis|glycerol ether metabolic process|lipid metabolic process|lipoprotein metabolic process|peptidyl-proline hydroxylation to 4-hydroxy-L-proline	ER-Golgi intermediate compartment|cell surface|endoplasmic reticulum lumen|extracellular region|melanosome|plasma membrane	electron carrier activity|procollagen-proline 4-dioxygenase activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			NS(1)|breast(1)|large_intestine(2)|lung(17)|urinary_tract(1)	22	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509)			CCTGGCCACCGCTCTCCAGGA	0.607000														10			8		0	0	1	0	0
CENPW	387103	broad.mit.edu	37	6	126667456	126667456	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:126667456G>A	uc003qao.3	+	1	399	c.232G>A	c.(232-234)Gca>Aca	p.A78T		NM_001012507	NP_001012525	Q5EE01	CENPW_HUMAN	Homo sapiens centromere protein W (CENPW), mRNA.	78						chromosome, centromeric region|nucleus	DNA binding			kidney(2)|large_intestine(1)|lung(3)	6						TGTACTGGCCGCAGCAAAGGT	0.398000														52			5		0	0	1	0	0
NAA25	80018	broad.mit.edu	37	12	112509781	112509781	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:112509781G>A	uc001ttm.3	-	9	1012	c.954C>T	c.(952-954)cgC>cgT	p.R318R	NAA25_uc001ttn.4_Non-coding_Transcript|NAA25_uc009zvz.2_Silent_p.R290R|NAA25_uc009zwa.2_Silent_p.R318R	NM_024953	NP_079229	Q14CX7	NAA25_HUMAN	Homo sapiens N(alpha)-acetyltransferase 25, NatB auxiliary subunit (NAA25), mRNA.	318						cytoplasm	protein binding	p.R318H(1)		autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						CTCGGAGATGGCGAGAACTTT	0.403000														45			4		0	0	1	0	0
DLG5	9231	broad.mit.edu	37	10	79603266	79603266	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:79603266G>A	uc001jzk.3	-	5	1133	c.1063C>T	c.(1063-1065)Ctg>Ttg	p.L355L	DLG5_uc001jzj.3_Silent_p.L110L|DLG5_uc009xru.1_Non-coding_Transcript|DLG5_uc001jzl.4_5'Flank	NM_004747	NP_004738	Q8TDM6	DLG5_HUMAN	Homo sapiens discs, large homolog 5 (Drosophila) (DLG5), mRNA.	355					cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			TGCTGGGTCAGCATCTCTGTC	0.637000														119			10		0	0	1	0	0
CEP192	55125	broad.mit.edu	37	18	13056133	13056133	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:13056133G>T	uc010xac.2	+	18	3624	c.3544G>T	c.(3544-3546)Gcc>Tcc	p.A1182S	CEP192_uc010dlf.1_Non-coding_Transcript|CEP192_uc010xad.2_Missense_Mutation_p.A707S|CEP192_uc002kru.3_Non-coding_Transcript|CEP192_uc002krv.3_5'UTR|CEP192_uc002krs.1_Missense_Mutation_p.A923S	NM_032142	NP_115518	B7ZMF0	B7ZMF0_HUMAN	Homo sapiens centrosomal protein 192kDa (CEP192), mRNA.	777										NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GGTGGGGTCAGCCACATCACA	0.532000														27			15		2.23348e-06	2.52156e-06	1	1	0
SCUBE2	57758	broad.mit.edu	37	11	9111361	9111361	+	Missense_Mutation	SNP	G	A	A	rs72549211	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:9111361G>A	uc001mhi.2	-	1	224	c.149C>T	c.(148-150)gCc>gTc	p.A50V	SCUBE2_uc001mhj.2_Missense_Mutation_p.A50V	NM_020974	NP_066025	Q9NQ36	SCUB2_HUMAN	Homo sapiens signal peptide, CUB domain, EGF-like 2 (SCUBE2), transcript variant 1, mRNA.	50	EGF-like 1; calcium-binding (Potential).					extracellular region	calcium ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		TAGCCCTTGGGCACACTCATC	0.592000														62			44		0	0	1	0	0
FZR1	51343	broad.mit.edu	37	19	3527008	3527008	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:3527008G>A	uc010dtk.2	+	4	452	c.418G>A	c.(418-420)Gat>Aat	p.D140N	FZR1_uc002lxt.2_Missense_Mutation_p.D140N|FZR1_uc002lxv.2_Intron	NM_001136198	NP_001129670	Q9UM11	FZR_HUMAN	Homo sapiens fizzy/cell division cycle 20 related 1 (Drosophila) (FZR1), transcript variant 1, mRNA.	140					DNA repair|G2/M transition DNA damage checkpoint|S phase of mitotic cell cycle|activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle	cytosol|nucleoplasm	protein binding			endometrium(1)|kidney(4)|liver(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCCAGCCCCGATGACGGCAA	0.662000														21			27		0	0	1	0	0
AKAP9	10142	broad.mit.edu	37	7	91690677	91690677	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:91690677G>A	uc003ulg.3	+	22	5930	c.5705G>A	c.(5704-5706)cGc>cAc	p.R1902H	AKAP9_uc003ulf.3_Missense_Mutation_p.R1902H|AKAP9_uc003uli.3_Missense_Mutation_p.R1525H	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	Homo sapiens A kinase (PRKA) anchor protein (yotiao) 9 (AKAP9), transcript variant 2, mRNA.	1914	Glu-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	Golgi apparatus|centrosome|cytosol	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CTTCGAGAGCGCCTTCATGAG	0.483000			T	BRAF	papillary thyroid									47			28		0	0	1	0	0
TPCN1	53373	broad.mit.edu	37	12	113726600	113726600	+	Missense_Mutation	SNP	G	A	A	rs147435178		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:113726600G>A	uc001tux.3	+	21	2134	c.1960G>A	c.(1960-1962)Gcc>Acc	p.A654T	TPCN1_uc001tuw.3_Missense_Mutation_p.A582T|TPCN1_uc010syt.1_3'UTR	NM_001143819	NP_060371	Q9ULQ1	TPC1_HUMAN	Homo sapiens two pore segment channel 1 (TPCN1), transcript variant 1, mRNA.	582						endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						CTACTCCTTCGCCATCGTGGG	0.657000														118			7		0	0	1	0	0
PMS1	5378	broad.mit.edu	37	2	190719533	190719533	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:190719533T>C	uc002urh.4	+	8	2064	c.1535T>C	c.(1534-1536)aTt>aCt	p.I512T	PMS1_uc010zga.1_Missense_Mutation_p.I473T|PMS1_uc010zgb.1_Missense_Mutation_p.I451T|PMS1_uc002urk.4_Missense_Mutation_p.I473T|PMS1_uc002uri.4_Missense_Mutation_p.I512T|PMS1_uc010zgc.2_Missense_Mutation_p.I336T|PMS1_uc010zgd.2_Missense_Mutation_p.I336T|PMS1_uc002urj.3_Non-coding_Transcript|PMS1_uc010fry.1_Missense_Mutation_p.I473T|PMS1_uc010frz.3_Intron|PMS1_uc002url.3_Missense_Mutation_p.I297T|PMS1_uc002urm.3_Non-coding_Transcript|PMS1_uc002urn.1_Missense_Mutation_p.I180T	NM_000534	NP_000525	P54277	PMS1_HUMAN	Homo sapiens PMS1 postmeiotic segregation increased 1 (S. cerevisiae) (PMS1), transcript variant 1, mRNA.	512					mismatch repair|reciprocal meiotic recombination	MutLalpha complex	ATP binding|ATPase activity|mismatched DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)			GGAGAGAATATTGAACCTGTG	0.343000			"""Mis, N"""			"""colorectal, endometrial, ovarian"""		Direct reversal of damage;Mismatch excision repair (MMR)						56			9		0	0	1	0	0
P2RY2	5029	broad.mit.edu	37	11	72946019	72946019	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:72946019G>A	uc021qna.1	+	0	815	c.815G>A	c.(814-816)cGc>cAc	p.R272H	P2RY2_uc001otk.3_Missense_Mutation_p.R272H|P2RY2_uc001otj.3_Missense_Mutation_p.R272H|P2RY2_uc001otl.3_Missense_Mutation_p.R272H	NM_176072	NP_788086	P41231	P2RY2_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 2 (P2RY2), transcript variant 1, mRNA.	272					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25					Suramin(DB04786)	TACTCCTTCCGCTCGCTGGAC	0.632000														21			15		0	0	1	0	0
ZNF235	9310	broad.mit.edu	37	19	44803800	44803800	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:44803800C>T	uc002oza.4	-	2	204	c.101G>A	c.(100-102)cGa>cAa	p.R34Q	ZNF235_uc002oyx.1_Non-coding_Transcript|ZNF235_uc010eji.3_Missense_Mutation_p.R34Q|ZNF235_uc002ozb.4_Missense_Mutation_p.R34Q	NM_004234	NP_004225	Q14590	ZN235_HUMAN	Homo sapiens zinc finger protein 235 (ZNF235), mRNA.	34	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29		Prostate(69;0.0352)|all_neural(266;0.116)				CATCACATCTCGGTACAGCTT	0.527000														81			51		0	0	1	0	0
ZEB2	9839	broad.mit.edu	37	2	145147242	145147242	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:145147242C>T	uc002tvu.3	-	9	3943	c.3421G>A	c.(3421-3423)Gag>Aag	p.E1141K	ZEB2_uc010zbm.2_Missense_Mutation_p.E1117K|ZEB2_uc002tvv.3_Missense_Mutation_p.E1135K|ZEB2_uc010fnp.3_Intron	NM_014795	NP_055610	O60315	ZEB2_HUMAN	Homo sapiens zinc finger E-box binding homeobox 2 (ZEB2), transcript variant 1, mRNA.	1141	Glu-rich (acidic).					cytoplasm|nucleolus	SMAD binding|phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		CCTTCTTTCTCGTGCTCCTTC	0.547000														121			16		0	0	1	0	0
SRBD1	55133	broad.mit.edu	37	2	45800362	45800362	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:45800362T>G	uc002rus.3	-	8	1365	c.1289A>C	c.(1288-1290)aAc>aCc	p.N430T		NM_018079	NP_060549	Q8N5C6	SRBD1_HUMAN	Homo sapiens S1 RNA binding domain 1 (SRBD1), mRNA.	430					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		RNA binding|hydrolase activity, acting on ester bonds			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			ATGGTGAATGTTTCTTATGTT	0.333000														23			17		0	0	1	0	0
ARMC12	221481	broad.mit.edu	37	6	35716620	35716620	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:35716620T>C	uc003ola.3	+	5	1104	c.1077T>C	c.(1075-1077)agT>agC	p.S359S	ARMC12_uc003olb.1_Silent_p.S322S	NM_145028	NP_659465	Q5T9G4	CF081_HUMAN	Homo sapiens armadillo repeat containing 12 (ARMC12), mRNA.	332							binding										GCCAGCCCAGTCGTTCCTACT	0.488000														24			9		0	0	1	0	0
DHCR24	1718	broad.mit.edu	37	1	55337188	55337188	+	Silent	SNP	G	A	A	rs145971053	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:55337188G>A	uc001cyc.1	-	4	840	c.711C>T	c.(709-711)taC>taT	p.Y237Y	DHCR24_uc010ooj.1_Silent_p.Y99Y|DHCR24_uc010ook.1_Silent_p.Y196Y	NM_014762	NP_055577	Q15392	DHC24_HUMAN	Homo sapiens 24-dehydrocholesterol reductase (DHCR24), mRNA.	237					anti-apoptosis|apoptosis|cell cycle arrest|cholesterol biosynthetic process|negative regulation of caspase activity|neuroprotection|response to oxidative stress|skin development	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|nucleus	delta24-sterol reductase activity|enzyme binding|flavin adenine dinucleotide binding|peptide antigen binding			large_intestine(2)|liver(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7						GCAGCTTGACGTACTTCTTGG	0.602000														36			20		0	0	1	0	0
SENP6	26054	broad.mit.edu	37	6	76343307	76343307	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:76343307G>A	uc003pid.4	+	3	837	c.218G>A	c.(217-219)cGa>cAa	p.R73Q	SENP6_uc003pie.4_Missense_Mutation_p.R73Q|SENP6_uc003pic.2_Missense_Mutation_p.R73Q|SENP6_uc003pif.1_5'UTR	NM_015571	NP_056386	Q9GZR1	SENP6_HUMAN	Homo sapiens SUMO1/sentrin specific peptidase 6 (SENP6), transcript variant 1, mRNA.	73					proteolysis	cytoplasm|nucleus	cysteine-type peptidase activity			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				TTAAATCGTCGATCTGAAATT	0.299000														46			4		0	0	1	0	0
ARHGEF17	9828	broad.mit.edu	37	11	73022552	73022552	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:73022552G>A	uc001otu.3	+	0	2890	c.2869G>A	c.(2869-2871)Gtt>Att	p.V957I		NM_014786	NP_055601	Q96PE2	ARHGH_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 17 (ARHGEF17), mRNA.	957					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						CTCCAGACACGTTCGCCATGC	0.622000														35			11		0	0	1	0	0
FAT2	2196	broad.mit.edu	37	5	150929016	150929016	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:150929016A>C	uc003lue.4	-	7	4642	c.4629T>G	c.(4627-4629)atT>atG	p.I1543M		NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	1543	Cadherin 13.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCTCCACATGAATGGTCACCC	0.542000														24			17		0	0	1	0	0
LRRC16A	55604	broad.mit.edu	37	6	25551155	25551155	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:25551155G>T	uc011djw.2	+	26	2714	c.2346G>T	c.(2344-2346)atG>atT	p.M782I	LRRC16A_uc010jpy.3_Missense_Mutation_p.M782I|LRRC16A_uc003nfa.1_Missense_Mutation_p.M136I	NM_017640	NP_060110	Q5VZK9	LR16A_HUMAN	Homo sapiens leucine rich repeat containing 16A (LRRC16A), transcript variant 1, mRNA.	782					actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						TTGAGTCCATGGTTGATGCTG	0.458000														76			36		5.43694e-19	6.98762e-19	1	1	0
CDC37L1	55664	broad.mit.edu	37	9	4701964	4701964	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:4701964C>T	uc003zio.3	+	5	1050	c.848C>T	c.(847-849)aCa>aTa	p.T283I		NM_017913	NP_060383	Q7L3B6	CD37L_HUMAN	Homo sapiens cell division cycle 37 homolog (S. cerevisiae)-like 1 (CDC37L1), mRNA.	283	Interaction with Hsp70.|Required for interaction with STIP1.					cytoplasm				breast(1)|kidney(1)|lung(2)	4	all_hematologic(13;0.137)	Breast(48;0.238)		GBM - Glioblastoma multiforme(50;0.0318)		CAACCTATGACAGTTCAGAAT	0.338000														40			15		0	0	1	0	0
EPHX1	2052	broad.mit.edu	37	1	226026435	226026435	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:226026435G>A	uc001hpk.3	+	3	525	c.445G>A	c.(445-447)Ggc>Agc	p.G149S	EPHX1_uc001hpl.3_Missense_Mutation_p.G149S	NM_001136018	NP_001129490	P07099	HYEP_HUMAN	Homo sapiens epoxide hydrolase 1, microsomal (xenobiotic) (EPHX1), transcript variant 2, mRNA.	149					aromatic compound catabolic process|response to toxin	endoplasmic reticulum membrane|integral to membrane|microsome	cis-stilbene-oxide hydrolase activity|epoxide hydrolase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.197)					GATGGTGCACGGCTGGCCCGG	0.582000														55			73		0	0	1	0	0
CRKL	1399	broad.mit.edu	37	22	21288371	21288371	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:21288371G>A	uc002ztf.2	+	1	1125	c.616G>A	c.(616-618)Gca>Aca	p.A206T		NM_005207	NP_005198	P46109	CRKL_HUMAN	Homo sapiens v-crk sarcoma virus CT10 oncogene homolog (avian)-like (CRKL), mRNA.	206					JNK cascade|Ras protein signal transduction	cytosol	SH3/SH2 adaptor activity|protein tyrosine kinase activity|signal transducer activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)	14	all_cancers(11;1.16e-25)|all_epithelial(7;3.37e-24)|Lung NSC(8;7.25e-16)|all_lung(8;1.37e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.176)			ACCTGCTCATGCATACGCTCA	0.502000														50			40		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140856640	140856640	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140856640G>T	uc003lkv.2	+	0	1072	c.957G>T	c.(955-957)gaG>gaT	p.E319D	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lkq.2_Intron|PCDHGC5_uc003lkp.2_Intron|PCDHGC5_uc003lkt.2_Intron|PCDHGC5_uc003lku.1_Missense_Mutation_p.E319D|PCDHGC5_uc003lkw.2_Intron	NM_002588	NP_002579	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily C, 3 (PCDHGC3), transcript variant 1, mRNA.	317	Cadherin 3.				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)			AACTCCATGAGATTTACATCC	0.547000														30			18		2.94398e-08	3.4452e-08	1	1	0
FSTL4	23105	broad.mit.edu	37	5	132736489	132736489	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:132736489G>A	uc003kyn.1	-	3	568	c.350C>T	c.(349-351)gCt>gTt	p.A117V		NM_015082	NP_055897	Q6MZW2	FSTL4_HUMAN	Homo sapiens follistatin-like 4 (FSTL4), mRNA.	117	Kazal-like.					extracellular region	calcium ion binding	p.R116H(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GAGGCAAGCAGCACGGTGGAG	0.562000														24			16		0	0	1	0	0
ZNF41	7592	broad.mit.edu	37	X	47307380	47307380	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:47307380G>A	uc004dhs.4	-	3	1982	c.1915C>T	c.(1915-1917)Cat>Tat	p.H639Y	ZNF41_uc004dhu.4_Missense_Mutation_p.H631Y|ZNF41_uc004dht.4_Missense_Mutation_p.H511Y|ZNF41_uc004dhv.4_Missense_Mutation_p.H607Y|ZNF41_uc004dhw.4_Missense_Mutation_p.H599Y|ZNF41_uc004dhy.4_Missense_Mutation_p.H597Y|ZNF41_uc004dhx.4_Missense_Mutation_p.H597Y|ZNF41_uc011mlm.2_Missense_Mutation_p.H511Y	NM_153380	NP_700359	P51814	ZNF41_HUMAN	Homo sapiens zinc finger protein 41 (ZNF41), transcript variant 2, mRNA.	639						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24		all_lung(315;0.000129)				ATTCTCTGATGCACGCTTAGT	0.453000														40			5		0	0	1	0	0
STK24	8428	broad.mit.edu	37	13	99127180	99127180	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:99127180G>A	uc001vnm.1	-	4	763	c.528C>T	c.(526-528)ggC>ggT	p.G176G	STK24_uc001vnn.1_Silent_p.G164G|STK24_uc010tim.1_Silent_p.G145G	NM_003576	NP_003567	Q9Y6E0	STK24_HUMAN	Homo sapiens serine/threonine kinase 24 (STK24), transcript variant 1, mRNA.	176	Protein kinase.				cellular component disassembly involved in apoptosis|signal transduction	cytosol|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	17	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			GGCCAGCCACGCCAAAGTCCG	0.597000														15			14		0	0	1	0	0
WDR7	23335	broad.mit.edu	37	18	54398622	54398622	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:54398622G>T	uc002lgk.1	+	13	1994	c.1783G>T	c.(1783-1785)Gat>Tat	p.D595Y	WDR7_uc010dpk.1_Non-coding_Transcript|WDR7_uc002lgl.1_Missense_Mutation_p.D595Y	NM_015285	NP_056100	Q9Y4E6	WDR7_HUMAN	Homo sapiens WD repeat domain 7 (WDR7), transcript variant 1, mRNA.	595										NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		AGGTGCATTGGATCGTTGTGT	0.348000														40			18		6.49762e-13	8.04122e-13	1	1	0
APBA2	321	broad.mit.edu	37	15	29385292	29385292	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:29385292G>A	uc001zck.3	+	5	1288	c.1084G>A	c.(1084-1086)Gaa>Aaa	p.E362K	APBA2_uc010azj.2_Missense_Mutation_p.E362K|APBA2_uc010uat.2_Missense_Mutation_p.E362K|APBA2_uc001zcl.3_Missense_Mutation_p.E362K|APBA2_uc001zcm.1_Missense_Mutation_p.E66K	NM_005503	NP_005494	Q99767	APBA2_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family A, member 2 (APBA2), transcript variant 1, mRNA.	362					nervous system development|protein transport		protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		AGGGCCCTGCGAACCAGAAGA	0.522000														37			20		0	0	1	0	0
SERPINB1	1992	broad.mit.edu	37	6	2840777	2840777	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:2840777A>G	uc003mub.3	-	1	88	c.44T>C	c.(43-45)cTg>cCg	p.L15P	SERPINB1_uc021ykq.1_Non-coding_Transcript	NM_030666	NP_109591	P30740	ILEU_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 1 (SERPINB1), mRNA.	15					regulation of proteolysis	cytoplasm|extracellular space	serine-type endopeptidase inhibitor activity			breast(4)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(2)|ovary(2)	13	Ovarian(93;0.0412)			OV - Ovarian serous cystadenocarcinoma(45;0.0717)		CGCCAGGAACAGGTCCAAGGC	0.547000														31			11		0	0	1	0	0
GABRA1	2554	broad.mit.edu	37	5	161324157	161324157	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:161324157C>A	uc010jiw.3	+	10	1568	c.1100C>A	c.(1099-1101)aCt>aAt	p.T367N	GABRA1_uc010jix.3_Missense_Mutation_p.T367N|GABRA1_uc010jiy.3_Missense_Mutation_p.T367N|GABRA1_uc003lyx.4_Missense_Mutation_p.T367N|GABRA1_uc010jiz.3_Missense_Mutation_p.T367N|GABRA1_uc010jja.3_Missense_Mutation_p.T367N|GABRA1_uc010jjb.3_Missense_Mutation_p.T367N	NM_000806	NP_001121120	P14867	GBRA1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 1 (GABRA1), transcript variant 1, mRNA.	367					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	AAAAACAACACTTACGCTCCA	0.418000														94			6		0.00198382	0.00208369	1	1	0
LIPG	9388	broad.mit.edu	37	18	47107794	47107794	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:47107794A>G	uc002ldv.3	+	5	1055	c.803A>G	c.(802-804)gAg>gGg	p.E268G	LIPG_uc002ldu.1_Missense_Mutation_p.E268G|LIPG_uc010xdh.2_Missense_Mutation_p.E194G	NM_006033	NP_006024	Q9Y5X9	LIPE_HUMAN	Homo sapiens lipase, endothelial (LIPG), mRNA.	268					cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport	extracellular space	heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						GCAATCACAGAGGTGGTAAAA	0.463000														59			33		0	0	1	0	0
HSPB7	27129	broad.mit.edu	37	1	16343580	16343580	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:16343580G>A	uc001axr.2	-	1	1164	c.601C>T	c.(601-603)Cgg>Tgg	p.R201W	HSPB7_uc001axo.2_Missense_Mutation_p.R108W|HSPB7_uc001axp.2_Intron|HSPB7_uc001axq.2_Missense_Mutation_p.R200W|HSPB7_uc001axs.2_Missense_Mutation_p.R183W|CLCNKA_uc001axt.3_5'Flank	NM_014424	NP_055239	Q9UBY9	HSPB7_HUMAN	Homo sapiens heat shock 27kDa protein family, member 7 (cardiovascular) (HSPB7), mRNA.	108					regulation of heart contraction|response to heat|response to unfolded protein	Cajal body	protein C-terminus binding			breast(1)|large_intestine(1)|liver(1)|lung(6)|skin(1)	10		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.21e-08)|COAD - Colon adenocarcinoma(227;5.5e-06)|BRCA - Breast invasive adenocarcinoma(304;9.08e-05)|Kidney(64;0.000162)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00656)|READ - Rectum adenocarcinoma(331;0.0649)		TTCTCAGCCCGCACCTCGATG	0.572000														60			20		0	0	1	0	0
C17orf74	201243	broad.mit.edu	37	17	7329070	7329070	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7329070C>T	uc002ggw.3	+	0	136	c.63C>T	c.(61-63)caC>caT	p.H21H	SPEM1_uc010vtw.1_Intron	NM_175734	NP_783861	Q0P670	CQ074_HUMAN	Homo sapiens chromosome 17 open reading frame 74 (C17orf74), mRNA.	21						integral to membrane				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	22		Prostate(122;0.157)				AAAGCCCCCACGATGCCGAGG	0.547000														180			102		0	0	1	0	0
SPG7	6687	broad.mit.edu	37	16	89598878	89598878	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:89598878C>T	uc002fnj.3	+	8	1179	c.1158C>T	c.(1156-1158)ggC>ggT	p.G386G	SPG7_uc002fni.3_Silent_p.G386G	NM_003119	NP_003110	Q9UQ90	SPG7_HUMAN	Homo sapiens spastic paraplegia 7 (pure and complicated autosomal recessive) (SPG7), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	386					cell death|nervous system development|protein catabolic process|proteolysis	integral to membrane|mitochondrial membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		CAGGCCTCGGCGCTGCCCGTG	0.577000														45			23		0	0	1	0	0
SCN3A	6328	broad.mit.edu	37	2	165986696	165986696	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:165986696G>A	uc002ucx.3	-	16	3168	c.2676C>T	c.(2674-2676)atC>atT	p.I892I	SCN3A_uc002ucy.3_Silent_p.I843I|SCN3A_uc002ucz.3_Silent_p.I843I|SCN3A_uc002uda.1_Silent_p.I712I|SCN3A_uc002udb.1_Silent_p.I712I	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	Homo sapiens sodium channel, voltage-gated, type III, alpha subunit (SCN3A), transcript variant 1, mRNA.	892						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	AAATGAAGACGATGATGGCCA	0.468000														70			62		0	0	1	0	0
NOP16	51491	broad.mit.edu	37	5	175815519	175815519	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:175815519T>C	uc003mee.3	-	0	22	c.22A>G	c.(22-24)Acc>Gcc	p.T8A	NOP16_uc003med.3_Missense_Mutation_p.T8A|NOP16_uc011dfl.2_Missense_Mutation_p.T8A|NOP16_uc011dfm.1_Missense_Mutation_p.T8A|HIGD2A_uc003meg.3_5'Flank			Q9Y3C1	NOP16_HUMAN	Homo sapiens NOP16 nucleolar protein homolog (yeast) (NOP16), mRNA.	8						nucleolus				central_nervous_system(1)|endometrium(2)|lung(4)|ovary(1)	8						TGCCTCCGGGTTTTGCCCTTG	0.602000														62			9		0	0	1	0	0
SLA	6503	broad.mit.edu	37	8	134050923	134050923	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:134050923C>A	uc011ljd.2	-	6	875	c.797G>T	c.(796-798)aGc>aTc	p.S266I	TG_uc003ytw.3_Intron|TG_uc010mdw.3_Intron|TG_uc011ljb.2_Intron|TG_uc011ljc.2_Intron|SLA_uc003ytz.3_Missense_Mutation_p.S226I|SLA_uc011lje.2_Missense_Mutation_p.S243I|SLA_uc011ljf.2_Missense_Mutation_p.S118I|SLA_uc011ljg.2_Missense_Mutation_p.S199I	NM_006748	NP_006739	Q13239	SLAP1_HUMAN	Homo sapiens Src-like-adaptor (SLA), transcript variant 3, mRNA.	226	SLA C-terminal.					endosome	SH3/SH2 adaptor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(6)|prostate(1)|skin(1)	17	all_epithelial(106;3.51e-21)|Lung NSC(106;4.24e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0279)|Breast(495;0.037)	BRCA - Breast invasive adenocarcinoma(115;0.000701)			AAGGCCATAGCTGAAAAGGGA	0.512000														40			6		3.59834e-05	3.95114e-05	1	1	0
GYS1	2997	broad.mit.edu	37	19	49496323	49496323	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:49496323T>C	uc002plp.3	-	0	288	c.47A>G	c.(46-48)gAg>gGg	p.E16G	GYS1_uc010emm.3_Missense_Mutation_p.E16G|GYS1_uc010xzz.2_5'UTR|GYS1_uc010yaa.1_Non-coding_Transcript|RUVBL2_uc010yab.2_5'Flank|RUVBL2_uc002plr.1_5'Flank|RUVBL2_uc002pls.1_5'Flank|RUVBL2_uc010emn.1_5'Flank	NM_002103	NP_002094	P13807	GYS1_HUMAN	Homo sapiens glycogen synthase 1 (muscle) (GYS1), transcript variant 1, mRNA.	16					glucose metabolic process|glycogen biosynthetic process	cytosol	glycogen (starch) synthase activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)		CTCCCAGTCCTCCAGTCCTGG	0.627000											OREG0025612	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		96			13		0	0	1	0	0
MLL3	58508	broad.mit.edu	37	7	151873659	151873659	+	Missense_Mutation	SNP	G	A	A	rs142287778		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:151873659G>A	uc003wla.3	-	37	9098	c.8879C>T	c.(8878-8880)cCg>cTg	p.P2960L	MLL3_uc003wkz.3_Missense_Mutation_p.P2021L|MLL3_uc003wky.3_Missense_Mutation_p.P469L	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	2960					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		ACGGCCAGGCGGTGCTATGAA	0.498000			N		medulloblastoma									17			24		0	0	1	0	0
EVPL	2125	broad.mit.edu	37	17	74006603	74006603	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:74006603G>A	uc010wss.1	-	21	2977	c.2749C>T	c.(2749-2751)Cga>Tga	p.R917*	EVPL_uc002jqi.2_Nonsense_Mutation_p.R895*|EVPL_uc010wst.1_Nonsense_Mutation_p.R365*	NM_001988	NP_001979	Q92817	EVPL_HUMAN	Homo sapiens envoplakin (EVPL), mRNA.	895	Central fibrous rod domain.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						TGGGTCCTTCGGATGTCCTCA	0.587000														15			13		0	0	1	0	0
ADPRHL2	54936	broad.mit.edu	37	1	36558763	36558763	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:36558763C>A	uc001bzt.3	+	5	921	c.868C>A	c.(868-870)Cca>Aca	p.P290T		NM_017825	NP_060295	Q9NX46	ARHL2_HUMAN	Homo sapiens ADP-ribosylhydrolase like 2 (ADPRHL2), nuclear gene encoding mitochondrial protein, mRNA.	290						cytoplasm|nucleus	metal ion binding|poly(ADP-ribose) glycohydrolase activity			cervix(1)|endometrium(2)|large_intestine(1)|lung(3)|pancreas(1)	8		Myeloproliferative disorder(586;0.0393)				CTGCATGGAGCCAGACCCTGA	0.552000														64			9		7.48243e-07	8.52591e-07	1	1	0
PPIC	5480	broad.mit.edu	37	5	122365005	122365005	+	Nonsense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:122365005C>A	uc003kth.3	-	1	331	c.226G>T	c.(226-228)Gga>Tga	p.G76*	PPIC_uc011cwp.1_Nonsense_Mutation_p.G76*	NM_000943	NP_000934	P45877	PPIC_HUMAN	Homo sapiens peptidylprolyl isomerase C (cyclophilin C) (PPIC), mRNA.	76	PPIase cyclophilin-type.				protein folding|signal transduction	cytoplasm	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity|unfolded protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	6		all_cancers(142;0.0168)|Prostate(80;0.0322)|Lung NSC(810;0.102)|all_lung(232;0.163)	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	OV - Ovarian serous cystadenocarcinoma(64;0.000331)|Epithelial(69;0.000553)|all cancers(49;0.00505)	L-Proline(DB00172)	CATACCTCTCCTGTTGCTAGA	0.353000														55			30		5.60225e-13	6.94765e-13	1	1	0
C5orf42	65250	broad.mit.edu	37	5	37169450	37169450	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:37169450G>A	uc011cpa.1	-	33	6907	c.6676C>T	c.(6676-6678)Cct>Tct	p.P2226S	C5orf42_uc011coy.1_Missense_Mutation_p.P726S|C5orf42_uc003jks.2_Non-coding_Transcript|C5orf42_uc011coz.1_Missense_Mutation_p.P1301S|C5orf42_uc003jkr.1_Missense_Mutation_p.P259S	NM_023073	NP_075561	E9PH94	E9PH94_HUMAN	Homo sapiens chromosome 5 open reading frame 42 (C5orf42), mRNA.	2226										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			TGAAGCAAAGGAAAGCCATCA	0.423000														59			32		0	0	1	0	0
SH3GL2	6456	broad.mit.edu	37	9	17786520	17786520	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:17786520T>C	uc003zna.3	+	3	617	c.329T>C	c.(328-330)tTt>tCt	p.F110S	SH3GL2_uc011lmx.1_Missense_Mutation_p.F75S|SH3GL2_uc011lmy.2_Missense_Mutation_p.F63S	NM_003026	NP_003017	Q99962	SH3G2_HUMAN	Homo sapiens SH3-domain GRB2-like 2 (SH3GL2), mRNA.	110	BAR.|Binds and tubulates liposomes (By similarity).				axon guidance|central nervous system development|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport	Golgi membrane|cytosol|plasma membrane	identical protein binding|lipid binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(50;2.71e-10)|Lung(42;0.203)		GATTGCAACTTTGGTAACAAG	0.468000														44			5		0	0	1	0	0
MFAP1	4236	broad.mit.edu	37	15	44105297	44105297	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:44105297G>T	uc001zth.1	-	5	959	c.775C>A	c.(775-777)Ctg>Atg	p.L259M		NM_005926	NP_005917	P55081	MFAP1_HUMAN	Homo sapiens microfibrillar-associated protein 1 (MFAP1), mRNA.	259						microfibril				breast(2)|endometrium(1)|kidney(1)|lung(6)|skin(2)|upper_aerodigestive_tract(3)	15		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.33e-07)		AATGCAGCCAGGGATCGCTTG	0.438000														165			67		8.21609e-47	1.09414e-46	1	1	0
LCA5	167691	broad.mit.edu	37	6	80197018	80197018	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:80197018C>A	uc003piy.3	-	8	2409	c.1797G>T	c.(1795-1797)gaG>gaT	p.E599D	LCA5_uc003pix.3_Missense_Mutation_p.E599D	NM_181714	NP_859065	Q86VQ0	LCA5_HUMAN	Homo sapiens Leber congenital amaurosis 5 (LCA5), transcript variant 1, mRNA.	599					protein transport	cilium axoneme|microtubule basal body	protein binding	p.E599D(2)		haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	32		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)		BRCA - Breast invasive adenocarcinoma(397;0.0657)		TAGCTTTTTTCTCTTTTCTTG	0.358000														72			44		6.21074e-16	7.84719e-16	1	1	0
ADAMTS14	140766	broad.mit.edu	37	10	72520573	72520573	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:72520573C>T	uc001jrg.3	+	21	3645	c.3645C>T	c.(3643-3645)ccC>ccT	p.P1215P	ADAMTS14_uc001jrh.3_Silent_p.P1212P	NM_139155	NP_631894	Q8WXS8	ATS14_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 14 (ADAMTS14), transcript variant 1, mRNA.	1212	Pro-rich.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						TGAGACATCCCGGCACCAGCC	0.642000														29			10		0	0	1	0	0
KIAA2022	340533	broad.mit.edu	37	X	73960018	73960018	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:73960018T>G	uc004eby.3	-	2	4991	c.4374A>C	c.(4372-4374)agA>agC	p.R1458S		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	Homo sapiens KIAA2022 (KIAA2022), mRNA.	1458					DNA replication proofreading|DNA replication, removal of RNA primer|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						ATTTCTCATCTCTCAGGGCCT	0.433000														93			7		0	0	1	0	0
BTBD8	284697	broad.mit.edu	37	1	92612769	92612769	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:92612769A>G	uc001doo.3	+	7	1230	c.963A>G	c.(961-963)gaA>gaG	p.E321E	BTBD8_uc010otc.2_Non-coding_Transcript	NM_183242	NP_899065	Q5XKL5	BTBD8_HUMAN	Homo sapiens BTB (POZ) domain containing 8 (BTBD8), mRNA.	321						nucleus		p.L320I(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)	16		all_lung(203;0.0484)|Lung NSC(277;0.126)|Glioma(108;0.222)		all cancers(265;0.0153)|Epithelial(280;0.0982)		CTATACTAGAATGCCTGATTA	0.328000														134			11		0	0	1	0	0
ZNF462	58499	broad.mit.edu	37	9	109687614	109687614	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:109687614A>G	uc004bcz.3	+	2	1710	c.1421A>G	c.(1420-1422)gAa>gGa	p.E474G	MIR548Q_uc022bli.1_Intron|ZNF462_uc010mto.3_Missense_Mutation_p.E322G|ZNF462_uc004bda.3_Missense_Mutation_p.E322G	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN	Homo sapiens zinc finger protein 462 (ZNF462), mRNA.	474					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						AAATGTGACGAATGTCCGTTT	0.468000														44			17		0	0	1	0	0
CTAGE5	4253	broad.mit.edu	37	14	39790251	39790251	+	Nonsense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:39790251G>T	uc001wvi.4	+	18	2014	c.1678G>T	c.(1678-1680)Gga>Tga	p.G560*	CTAGE5_uc010tqe.1_Nonsense_Mutation_p.G517*|CTAGE5_uc001wuy.4_Nonsense_Mutation_p.G475*|CTAGE5_uc001wuz.4_Nonsense_Mutation_p.G543*|CTAGE5_uc001wva.4_Nonsense_Mutation_p.G526*|CTAGE5_uc001wvb.4_Intron|CTAGE5_uc001wvc.4_Intron|CTAGE5_uc001wvf.4_Nonsense_Mutation_p.G480*|CTAGE5_uc001wvg.4_Nonsense_Mutation_p.G555*|CTAGE5_uc001wvh.4_Intron|CTAGE5_uc010amz.3_Nonsense_Mutation_p.G171*|CTAGE5_uc001wvj.4_Nonsense_Mutation_p.G526*	NM_001247989	NP_001234918	O15320	CTGE5_HUMAN	Homo sapiens CTAGE family, member 5 (CTAGE5), transcript variant 6, mRNA.	555	Pro-rich.						enzyme activator activity|protein binding		CTAGE5/SIP1(2)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0475)		TCCAGGGGGAGGAGGAAGAGG	0.383000														39			35		1.56442e-22	2.03218e-22	1	1	0
PFAS	5198	broad.mit.edu	37	17	8170106	8170106	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:8170106G>A	uc002gkr.3	+	22	2998	c.2857G>A	c.(2857-2859)Gtg>Atg	p.V953M	PFAS_uc010vuv.2_Missense_Mutation_p.V529M|PFAS_uc002gks.3_Missense_Mutation_p.V32M	NM_012393	NP_036525	O15067	PUR4_HUMAN	Homo sapiens phosphoribosylformylglycinamidine synthase (PFAS), mRNA.	953					'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding	p.L952L(1)		central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	GCCAGGCCTCGTGCTGGAGGT	0.662000														17			20		0	0	1	0	0
MICAL3	57553	broad.mit.edu	37	22	18300809	18300809	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:18300809G>A	uc002zng.4	-	25	4971	c.4618C>T	c.(4618-4620)Cag>Tag	p.Q1540*	MICAL3_uc011agl.2_Nonsense_Mutation_p.Q1456*|MICAL3_uc010gre.2_5'Flank	NM_015241	NP_056056	Q7RTP6	MICA3_HUMAN	Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 3 (MICAL3), transcript variant 1, mRNA.	1540						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		AATTTCTCCTGCAGGCTTGAG	0.622000														19			12		0	0	1	0	0
ZSCAN29	146050	broad.mit.edu	37	15	43661813	43661813	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:43661813G>T	uc001zrk.1	-	0	446	c.299C>A	c.(298-300)cCt>cAt	p.P100H	ZSCAN29_uc001zrj.1_5'Flank|ZSCAN29_uc010bdg.1_Missense_Mutation_p.P99H|ZSCAN29_uc010bdf.1_Missense_Mutation_p.P99H|ZSCAN29_uc001zrl.1_Non-coding_Transcript|ZSCAN29_uc001zrm.3_Missense_Mutation_p.P99H|TUBGCP4_uc001zrn.3_5'Flank|TUBGCP4_uc001zro.3_5'Flank	NM_152455	NP_689668	Q8IWY8	ZSC29_HUMAN	Homo sapiens zinc finger and SCAN domain containing 29 (ZSCAN29), mRNA.	100	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(7)|skin(2)	24		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.97e-07)		AGGTCTTCCAGGCTCTCTTTC	0.463000														79			6		2.0095e-06	2.27092e-06	1	1	0
MYO1G	64005	broad.mit.edu	37	7	45005867	45005867	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:45005867G>T	uc003tmh.2	-	15	2106	c.1962C>A	c.(1960-1962)acC>acA	p.T654T	MYO1G_uc003tmg.2_Silent_p.T416T|MYO1G_uc010kym.2_Silent_p.T539T|MYO1G_uc003tmi.1_3'UTR	NM_033054	NP_149043	B0I1T2	MYO1G_HUMAN	Homo sapiens myosin IG (MYO1G), mRNA.	654	Myosin head-like.					myosin complex|plasma membrane	ATP binding|actin binding|calmodulin binding|motor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						TGTATTCACAGGTCATCTTGT	0.657000														23			5		5.9392e-07	6.7814e-07	1	1	0
FKBP15	23307	broad.mit.edu	37	9	115959295	115959295	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:115959295C>A	uc004bgs.2	-	8	934	c.781G>T	c.(781-783)Gcc>Tcc	p.A261S	FKBP15_uc010muu.1_Missense_Mutation_p.A325S|FKBP15_uc011lxd.1_Missense_Mutation_p.A193S|FKBP15_uc010mut.1_Missense_Mutation_p.A129S|FKBP15_uc004bgt.2_Missense_Mutation_p.A261S	NM_015258	NP_056073	Q5T1M5	FKB15_HUMAN	Homo sapiens FK506 binding protein 15, 133kDa (FKBP15), mRNA.	261	PPIase FKBP-type.				endocytosis|protein folding	axon|early endosome	actin binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						ACAGCACAGGCTGGAGGGACA	0.498000														42			37		2.91434e-09	3.45806e-09	1	1	0
SLC29A4	222962	broad.mit.edu	37	7	5330479	5330479	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:5330479C>T	uc003sod.3	+	2	447	c.286C>T	c.(286-288)Cat>Tat	p.H96Y	SLC29A4_uc011jwg.1_Non-coding_Transcript|SLC29A4_uc003soc.3_Missense_Mutation_p.H96Y|SLC29A4_uc003soe.3_Missense_Mutation_p.H96Y	NM_153247	NP_694979	Q7RTT9	S29A4_HUMAN	Homo sapiens solute carrier family 29 (nucleoside transporters), member 4 (SLC29A4), transcript variant 2, mRNA.	96					nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|integral to membrane	nucleoside transmembrane transporter activity			breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)		GGACTACCTGCATCACAAGTA	0.627000														71			9		0	0	1	0	0
C10orf76	79591	broad.mit.edu	37	10	103784949	103784949	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:103784949C>A	uc009xwy.1	-	5	573	c.471G>T	c.(469-471)aaG>aaT	p.K157N		NM_024541	NP_078817	Q5T2E6	CJ076_HUMAN	Homo sapiens chromosome 10 open reading frame 76 (C10orf76), mRNA.	157						integral to membrane				autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|upper_aerodigestive_tract(2)	24		Colorectal(252;0.123)		Epithelial(162;2.41e-08)|all cancers(201;6.41e-07)		GACATAAACTCTTCAGACTTT	0.393000														72			42		6.27289e-28	8.25138e-28	1	1	0
LGALS8	3964	broad.mit.edu	37	1	236702282	236702282	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:236702282A>G	uc001hxz.2	+	4	619	c.238A>G	c.(238-240)Act>Gct	p.T80A	LGALS8_uc001hxw.2_Missense_Mutation_p.T80A|LGALS8_uc001hxy.2_Missense_Mutation_p.T80A|LGALS8_uc009xgg.2_Non-coding_Transcript|LGALS8_uc001hya.2_Missense_Mutation_p.T80A|LGALS8_uc001hyc.2_Missense_Mutation_p.T80A	NM_201543	NP_963838	O00214	LEG8_HUMAN	Homo sapiens lectin, galactoside-binding, soluble, 8 (LGALS8), transcript variant 2, mRNA.	80	Galectin 1.					cytoplasm|extracellular space	sugar binding			kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(5)	20	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.0253)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			TGTTTGCAATACTTTGATAAA	0.453000														32			46		0	0	1	0	0
ZNF292	23036	broad.mit.edu	37	6	87968797	87968797	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:87968797G>A	uc003plm.4	+	7	5491	c.5450G>A	c.(5449-5451)aGt>aAt	p.S1817N		NM_015021	NP_055836	O60281	ZN292_HUMAN	Homo sapiens zinc finger protein 292 (ZNF292), mRNA.	1817					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		TCCTTTATAAGTGTCATGCCA	0.323000														13			8		0	0	1	0	0
C10orf88	80007	broad.mit.edu	37	10	124697271	124697271	+	Silent	SNP	G	A	A	rs145403983	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:124697271G>A	uc001lgw.2	-	4	1278	c.1053C>T	c.(1051-1053)acC>acT	p.T351T	C10orf88_uc001lgx.2_Silent_p.T253T	NM_024942	NP_079218	Q9H8K7	CJ088_HUMAN	Homo sapiens chromosome 10 open reading frame 88 (C10orf88), mRNA.	351										breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)	18		all_neural(114;0.0765)|Lung NSC(174;0.163)|all_lung(145;0.205)		Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0735)		CCTGACACTCGGTCTTATTTC	0.393000														93			56		0	0	1	0	0
RPS6KA1	6195	broad.mit.edu	37	1	26888068	26888068	+	Missense_Mutation	SNP	C	A	A	rs138370781		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:26888068C>A	uc001bmr.1	+	16	1667	c.1504C>A	c.(1504-1506)Ctg>Atg	p.L502M	RPS6KA1_uc010ofe.1_Missense_Mutation_p.L410M|RPS6KA1_uc010off.1_Missense_Mutation_p.L486M|RPS6KA1_uc001bms.1_Missense_Mutation_p.L511M|RPS6KA1_uc009vsl.1_Missense_Mutation_p.L345M	NM_002953	NP_002944	Q15418	KS6A1_HUMAN	Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 1 (RPS6KA1), transcript variant 1, mRNA.	502	Protein kinase 2.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|axon guidance|innate immune response|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		GGACAAGATCCTGCGGCAGAA	0.557000														84			10		1.76689e-08	2.07166e-08	1	1	0
CCDC85A	114800	broad.mit.edu	37	2	56611422	56611422	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:56611422G>T	uc002rzn.3	+	5	2096	c.1594G>T	c.(1594-1596)Gat>Tat	p.D532Y	CCDC85A_uc021vhw.1_Non-coding_Transcript	NM_001080433	NP_001073902	Q96PX6	CC85A_HUMAN	Homo sapiens coiled-coil domain containing 85A (CCDC85A), mRNA.	532										breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			GAAACTTGGAGATGCTGCAGG	0.393000														60			6		8.12818e-05	8.84769e-05	1	1	0
COL5A1	1289	broad.mit.edu	37	9	137593154	137593154	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:137593154G>A	uc004cfe.3	+	3	1011	c.629G>A	c.(628-630)cGg>cAg	p.R210Q		NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	210	Laminin G-like.|TSP N-terminal.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		TTTGGCACCCGGATCCTGGAT	0.567000														13			6		0	0	1	0	0
SOX13	9580	broad.mit.edu	37	1	204082138	204082138	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:204082138C>A	uc001ham.3	+	1	690	c.95C>A	c.(94-96)cCt>cAt	p.P32H	SOX13_uc001hal.3_Missense_Mutation_p.P32H|SOX13_uc010pqp.2_Missense_Mutation_p.P32H	NM_005686	NP_005677	Q9UN79	SOX13_HUMAN	Homo sapiens SRY (sex determining region Y)-box 13 (SOX13), mRNA.	32					anatomical structure morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	13	all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			AAGAAAGAGCCTTGCCACGAG	0.647000														15			12		2.27111e-07	2.61452e-07	1	1	0
TEX13A	56157	broad.mit.edu	37	X	104465051	104465051	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:104465051C>T	uc004ema.3	-	1	143	c.31G>A	c.(31-33)Ggg>Agg	p.G11R	IL1RAPL2_uc004elz.1_Intron|TEX13A_uc004emb.3_Missense_Mutation_p.G11R	NM_031274	NP_112564	Q9BXU3	TX13A_HUMAN	Homo sapiens testis expressed 13A (TEX13A), mRNA.	11						intracellular	zinc ion binding			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						TGCCGGAACCCGCTACTGGGG	0.537000														22			13		0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216108117	216108117	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:216108117G>T	uc001hku.1	-	37	7528	c.7141C>A	c.(7141-7143)Ctg>Atg	p.L2381M		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	2381	Fibronectin type-III 10.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GTGACATTCAGAAGGGTGTAG	0.323000										HNSCC(13;0.011)				75			12		0.00010058	0.000109296	1	1	0
SCN10A	6336	broad.mit.edu	37	3	38766687	38766687	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:38766687G>A	uc003ciq.3	-	16	3206	c.3206C>T	c.(3205-3207)tCt>tTt	p.S1069F		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	1069					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	CTGAGGAACAGACTCATCTTT	0.602000														21			11		0	0	1	0	0
DHX36	170506	broad.mit.edu	37	3	154024015	154024015	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:154024015G>A	uc003ezy.4	-	5	964	c.883C>T	c.(883-885)Cgt>Tgt	p.R295C	DHX36_uc010hvq.3_Missense_Mutation_p.R295C|DHX36_uc003ezz.4_Missense_Mutation_p.R295C	NM_020865	NP_065916	Q9H2U1	DHX36_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 36 (DHX36), transcript variant 1, mRNA.	295	Helicase ATP-binding.					cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			CTCTGGAGACGAATTTGATAT	0.348000														34			25		0	0	1	0	0
CREBBP	1387	broad.mit.edu	37	16	3781930	3781930	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:3781930C>A	uc002cvv.3	-	28	4941	c.4737G>T	c.(4735-4737)caG>caT	p.Q1579H	CREBBP_uc002cvw.3_Missense_Mutation_p.Q1541H	NM_004380	NP_004371	Q92793	CBP_HUMAN	Homo sapiens CREB binding protein (CREBBP), transcript variant 1, mRNA.	1579	Interaction with TRERF1.				N-terminal peptidyl-lysine acetylation|cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	MyoD binding|histone acetyltransferase activity|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	p.Q1579*(1)		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)		tgctgtcgCCCTGACTGCCCT	0.572000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome							92			10		2.27111e-07	2.61452e-07	1	1	0
C19orf44	84167	broad.mit.edu	37	19	16614097	16614097	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:16614097G>T	uc002neh.1	+	2	1054	c.981G>T	c.(979-981)aaG>aaT	p.K327N	MED26_uc002nee.2_Intron|C19orf44_uc002nef.1_Missense_Mutation_p.K327N|C19orf44_uc002neg.3_Missense_Mutation_p.K327N|C19orf44_uc010eai.1_Non-coding_Transcript	NM_032207	NP_115583	Q9H6X5	CS044_HUMAN	Homo sapiens chromosome 19 open reading frame 44 (C19orf44), mRNA.	327										endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						TGTCTTTAAAGATGGGGCATG	0.552000														67			11		4.68919e-08	5.46558e-08	1	1	0
CNP	1267	broad.mit.edu	37	17	40120334	40120334	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:40120334C>T	uc002hyl.1	+	1	396	c.252C>T	c.(250-252)gaC>gaT	p.D84D	CNP_uc010wfz.1_Silent_p.D84D|CNP_uc002hym.1_Silent_p.D64D|CNP_uc010wga.1_Intron|CNP_uc021txq.1_5'Flank	NM_033133	NP_149124	P09543	CN37_HUMAN	Homo sapiens 2',3'-cyclic nucleotide 3' phosphodiesterase (CNP), mRNA.	84					RNA metabolic process|cell killing|cyclic nucleotide catabolic process|synaptic transmission	extracellular space|melanosome	2',3'-cyclic-nucleotide 3'-phosphodiesterase activity|ATP binding|protein binding			breast(1)|kidney(2)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	9		all_cancers(22;2.38e-06)|all_epithelial(22;6.79e-05)|Breast(137;0.000143)		UCEC - Uterine corpus endometrioid carcinoma (308;0.171)		TGTCGGCTGACGCTTACAAGA	0.632000														12			10		0	0	1	0	0
HSPG2	3339	broad.mit.edu	37	1	22162127	22162127	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:22162127G>A	uc009vqd.3	-	75	10402	c.10362C>T	c.(10360-10362)atC>atT	p.I3454I	HSPG2_uc001bfj.3_Silent_p.I3453I	NM_005529	NP_005520	P98160	PGBM_HUMAN	Homo sapiens heparan sulfate proteoglycan 2 (HSPG2), mRNA.	3453	Ig-like C2-type 20.				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)	CCAAGTTCTGGATTCTATAAA	0.502000														21			12		0	0	1	0	0
SLC34A2	10568	broad.mit.edu	37	4	25667852	25667852	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:25667852G>A	uc003grr.3	+	4	563	c.482G>A	c.(481-483)aGc>aAc	p.S161N	SLC34A2_uc003grs.3_Missense_Mutation_p.S160N|SLC34A2_uc010iev.3_Missense_Mutation_p.S160N	NM_006424	NP_006415	O95436	NPT2B_HUMAN	Homo sapiens solute carrier family 34 (sodium phosphate), member 2 (SLC34A2), transcript variant 1, mRNA.	161					cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				CAGAGCTCCAGCACCTCAACG	0.547000			T	ROS1	NSCLC									54			33		0	0	1	0	0
CPNE2	221184	broad.mit.edu	37	16	57144795	57144795	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:57144795C>A	uc010cct.2	+	2	566	c.219C>A	c.(217-219)ttC>ttA	p.F73L	CPNE2_uc002eks.2_Missense_Mutation_p.F47L|CPNE2_uc010ccu.2_Missense_Mutation_p.F47L	NM_152727	NP_689940	Q96FN4	CPNE2_HUMAN	Homo sapiens copine II (CPNE2), mRNA.	47	C2 1.							p.P73P(1)		central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(5)	21		all_neural(199;0.224)				CCGACCCCTTCTGTGTCCTCT	0.602000														73			18		1.96292e-10	2.36921e-10	1	1	0
TGM6	343641	broad.mit.edu	37	20	2411126	2411126	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:2411126G>A	uc002wfy.1	+	10	1774	c.1713G>A	c.(1711-1713)aaG>aaA	p.K571K	TGM6_uc010gal.1_Silent_p.K571K	NM_198994	NP_945345	O95932	TGM3L_HUMAN	Homo sapiens transglutaminase 6 (TGM6), transcript variant 1, mRNA.	571					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	CTTACTCTAAGTATAAAGAAG	0.458000														94			12		0	0	1	0	0
COL11A2	1302	broad.mit.edu	37	6	33153518	33153518	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:33153518T>C	uc003ocx.1	-	5	1064	c.836A>G	c.(835-837)tAt>tGt	p.Y279C	COL11A2_uc003ocy.1_Intron|COL11A2_uc003ocz.1_Intron	NM_080680	NP_542411	P13942	COBA2_HUMAN	Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA.	279	Nonhelical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						CACATCATAATAGGGGGGCTC	0.532000														61			10		0	0	1	0	0
TANC2	26115	broad.mit.edu	37	17	61498942	61498942	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:61498942A>G	uc002jal.4	+	24	5622	c.5599A>G	c.(5599-5601)Acc>Gcc	p.T1867A	TANC2_uc010wpe.2_3'UTR|TANC2_uc002jao.4_Missense_Mutation_p.T978A	NM_025185	NP_079461	Q9HCD6	TANC2_HUMAN	Homo sapiens tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 (TANC2), mRNA.	1867							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						GCAGAATCGGACCTGGGCAGT	0.577000														56			5		0	0	1	0	0
ABCG8	64241	broad.mit.edu	37	2	44071654	44071654	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:44071654G>T	uc002rtq.3	+	1	162	c.72G>T	c.(70-72)caG>caT	p.Q24H	ABCG8_uc010yoa.2_Missense_Mutation_p.Q24H	NM_022437	NP_071882	Q9H221	ABCG8_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 8 (ABCG8), mRNA.	24					cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				AGGGCCTCCAGGATAGATTGT	0.522000														19			14		1.52009e-12	1.87729e-12	1	1	0
FRYL	285527	broad.mit.edu	37	4	48621374	48621374	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:48621374G>A	uc003gyh.1	-	6	933	c.328C>T	c.(328-330)Cgt>Tgt	p.R110C	FRYL_uc003gyk.3_Missense_Mutation_p.R110C|FRYL_uc003gyl.1_Missense_Mutation_p.R161C	NM_015030	NP_055845	O94915	FRYL_HUMAN	Homo sapiens FRY-like (FRYL), mRNA.	110					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						TCTCTTTCACGTTGCTGTTCA	0.333000														22			21		0	0	1	0	0
RAD23B	5887	broad.mit.edu	37	9	110086280	110086280	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:110086280G>T	uc004bde.3	+	7	1321	c.927G>T	c.(925-927)gaG>gaT	p.E309D	RAD23B_uc011lwa.2_Missense_Mutation_p.E309D|RAD23B_uc022blj.1_Missense_Mutation_p.E237D|RAD23B_uc011lwb.2_Missense_Mutation_p.E288D	NM_002874	NP_002865	P54727	RD23B_HUMAN	Homo sapiens RAD23 homolog B (S. cerevisiae) (RAD23B), transcript variant 1, mRNA.	309	STI1.				nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process	XPC complex|cytoplasm|nucleoplasm|proteasome complex	damaged DNA binding|polyubiquitin binding|single-stranded DNA binding			breast(3)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						TAGGTCGAGAGAATCCTCAAT	0.413000								Direct reversal of damage;Nucleotide excision repair (NER)						81			6		0.00307968	0.00322291	1	1	0
ACTN2	88	broad.mit.edu	37	1	236902708	236902708	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:236902708G>A	uc001hyf.2	+	9	1187	c.983G>A	c.(982-984)cGg>cAg	p.R328Q	ACTN2_uc001hyg.2_Missense_Mutation_p.R120Q|ACTN2_uc009xgi.1_Missense_Mutation_p.R328Q|ACTN2_uc010pxu.1_Intron	NM_001103	NP_001094	P35609	ACTN2_HUMAN	Homo sapiens actinin, alpha 2 (ACTN2), mRNA.	328					focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	Z disc|actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium	FATZ 1 binding|ZASP binding|actin binding|calcium ion binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin Z domain binding|titin binding	p.R327H(1)		endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			GATTACCGCCGGAAGCACAAG	0.577000														80			7		0	0	1	0	0
ENDOU	8909	broad.mit.edu	37	12	48110168	48110168	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:48110168C>A	uc001rpu.2	-	5	825	c.666G>T	c.(664-666)caG>caT	p.Q222H	ENDOU_uc010sll.2_5'UTR|ENDOU_uc001rpt.2_Missense_Mutation_p.Q181H|ENDOU_uc010slm.2_Missense_Mutation_p.Q159H|AL831948_uc001rpv.3_5'Flank	NM_001172439	NP_001165910	P21128	ENDOU_HUMAN	Homo sapiens endonuclease, polyU-specific (ENDOU), transcript variant 1, mRNA.	222					female pregnancy|immune response|proteolysis	cytoplasm|extracellular space|plasma membrane	RNA binding|endoribonuclease activity|growth factor activity|manganese ion binding|polysaccharide binding|scavenger receptor activity|serine-type peptidase activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(4)|lung(2)|ovary(3)|pancreas(1)|stomach(1)	14						CGGCCAGCTCCTGGGCACTGA	0.562000											OREG0021752	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		54			6		0.248553	0.249802	1	1	0
PDS5B	23047	broad.mit.edu	37	13	33262607	33262607	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:33262607G>A	uc010abf.3	+	12	1556	c.1370G>A	c.(1369-1371)cGg>cAg	p.R457Q	PDS5B_uc001uuo.3_Missense_Mutation_p.R457Q|PDS5B_uc010abg.3_Non-coding_Transcript|PDS5B_uc010teb.2_Missense_Mutation_p.R159Q	NM_015032	NP_055847	Q9NTI5	PDS5B_HUMAN	Homo sapiens PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae) (PDS5B), mRNA.	457					cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding	p.R457W(1)		NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		CTTGTTGAACGGATCTTTGCT	0.313000														44			31		0	0	1	0	0
CNDP2	55748	broad.mit.edu	37	18	72178114	72178114	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:72178114G>A	uc002llm.2	+	5	782	c.523G>A	c.(523-525)Gag>Aag	p.E175K	CNDP2_uc002lln.2_Missense_Mutation_p.E91K	NM_018235	NP_060705	Q96KP4	CNDP2_HUMAN	Homo sapiens CNDP dipeptidase 2 (metallopeptidase M20 family) (CNDP2), transcript variant 1, mRNA.	175						cytoplasm	carboxypeptidase activity|metal ion binding|metallopeptidase activity|protein binding|tripeptidase activity	p.D174D(1)		breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(5)|ovary(2)|skin(2)|stomach(3)	24		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.22)		GGGCCTAGACGAGCTGATTTT	0.498000														40			35		0	0	1	0	0
LRRK1	79705	broad.mit.edu	37	15	101528954	101528954	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:101528954C>T	uc002bwr.3	+	4	868	c.549C>T	c.(547-549)taC>taT	p.Y183Y	LRRK1_uc010usb.2_Non-coding_Transcript|LRRK1_uc010usc.2_Non-coding_Transcript|LRRK1_uc002bwq.1_Silent_p.Y183Y	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	Homo sapiens leucine-rich repeat kinase 1 (LRRK1), mRNA.	183					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CGGAGAGCTACGCTGTCAGGA	0.617000														34			20		0	0	1	0	0
MKX	283078	broad.mit.edu	37	10	27964176	27964176	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:27964176C>T	uc001ity.4	-	6	1266	c.1041G>A	c.(1039-1041)ccG>ccA	p.P347P	MKX_uc001itx.4_Silent_p.P347P	NM_173576	NP_775847	Q8IYA7	MKX_HUMAN	Homo sapiens mohawk homeobox (MKX), transcript variant 1, mRNA.	347					muscle organ development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16						GCTGCACCAGCGGCACTTTGA	0.463000														48			32		0	0	1	0	0
NFATC2	4773	broad.mit.edu	37	20	50071118	50071118	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:50071118C>T	uc002xwd.3	-	5	2036	c.1816G>A	c.(1816-1818)Gag>Aag	p.E606K	NFATC2_uc002xwc.3_Missense_Mutation_p.E606K|NFATC2_uc010zyv.2_Missense_Mutation_p.E387K|NFATC2_uc010zyw.2_Missense_Mutation_p.E387K|NFATC2_uc002xwe.3_Missense_Mutation_p.E586K|NFATC2_uc010zyx.2_Missense_Mutation_p.E586K|NFATC2_uc010zyy.2_Missense_Mutation_p.E387K|NFATC2_uc010zyz.2_Missense_Mutation_p.E387K|MIR3194_uc021weu.1_5'Flank	NM_173091	NP_775114	Q13469	NFAC2_HUMAN	Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 (NFATC2), transcript variant 2, mRNA.	606					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)					ACTTTGGACTCGGATGTAAAG	0.478000														77			56		0	0	1	0	0
CD99L2	83692	broad.mit.edu	37	X	149963702	149963702	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:149963702C>A	uc004fek.3	-	5	647	c.419G>T	c.(418-420)aGg>aTg	p.R140M	CD99L2_uc011myb.2_Intron|CD99L2_uc004feo.3_Non-coding_Transcript|CD99L2_uc004fel.3_Missense_Mutation_p.R136M|CD99L2_uc004fem.3_Missense_Mutation_p.R87M|CD99L2_uc004fen.3_Missense_Mutation_p.R64M	NM_001242614	NP_001229543	Q8TCZ2	C99L2_HUMAN	Homo sapiens CD99 molecule-like 2 (CD99L2), transcript variant 5, mRNA.	136					cell adhesion	cell junction|integral to membrane				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					AATTGGTTTCCTGCGGCCATC	0.478000														190			10		3.86212e-05	4.23294e-05	1	1	0
PPM1D	8493	broad.mit.edu	37	17	58734076	58734076	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:58734076A>G	uc002iyt.2	+	4	1366	c.1134A>G	c.(1132-1134)gaA>gaG	p.E378E	PPM1D_uc010ddm.2_Non-coding_Transcript	NM_003620	NP_003611	O15297	PPM1D_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1D (PPM1D), mRNA.	378	PP2C-like.				negative regulation of cell proliferation|protein dephosphorylation|response to radiation	nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein binding|protein serine/threonine phosphatase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	15	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)			TCTCTCCAGAAGTGGACAATC	0.463000														72			6		0	0	1	0	0
COL28A1	340267	broad.mit.edu	37	7	7476095	7476095	+	Splice_Site	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:7476095C>A	uc003src.1	-	23	1909	c.1792_splice	c.e23-1	p.G598_splice	COL28A1_uc011jxe.1_Splice_Site_p.G281_splice|COL28A1_uc003srd.3_Splice_Site_p.G153_splice|COL28A1_uc003sre.1_Splice_Site_p.G19_splice	NM_001037763	NP_001032852	Q2UY09	COSA1_HUMAN	Homo sapiens collagen, type XXVIII, alpha 1 (COL28A1), mRNA.	598					cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		CTCTATCTCCCTGTACATTTC	0.398000														65			19		7.45023e-12	9.14443e-12	1	1	0
CLDN2	9075	broad.mit.edu	37	X	106171742	106171742	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:106171742G>A	uc022ccd.1	+	0	284	c.284G>A	c.(283-285)tGc>tAc	p.C95Y	MORC4_uc004emp.4_Intron|CLDN2_uc004emq.1_Missense_Mutation_p.C95Y|CLDN2_uc022ccc.1_Missense_Mutation_p.C95Y|CLDN2_uc004emt.2_Missense_Mutation_p.C95Y	NM_020384	NP_065117	P57739	CLD2_HUMAN	Homo sapiens claudin 2 (CLDN2), transcript variant 1, mRNA.	95					calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						TCCCTGGCCTGCATTATCTCT	0.562000														89			12		0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144941327	144941327	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:144941327C>T	uc003zaa.1	-	0	6108	c.6095G>A	c.(6094-6096)aGa>aAa	p.R2032K		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	2032						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			ACAGCCCCGTCTGTAGGCTGT	0.602000														21			20		0	0	1	0	0
AKAP4	8852	broad.mit.edu	37	X	49963374	49963374	+	Missense_Mutation	SNP	G	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:49963374G>C	uc004dow.1	-	1	181	c.57C>G	c.(55-57)agC>agG	p.S19R	AKAP4_uc004dou.1_Missense_Mutation_p.S10R|AKAP4_uc004dov.1_Missense_Mutation_p.S10R|AKAP4_uc010njp.1_5'UTR	NM_003886	NP_647450	Q5JQC9	AKAP4_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 4 (AKAP4), transcript variant 1, mRNA.	19					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					CACCCCTGTGGCTGCGTAACC	0.433000														13			11		0	0	1	0	0
DIDO1	11083	broad.mit.edu	37	20	61512503	61512503	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:61512503C>A	uc002ydr.2	-	15	5117	c.4805G>T	c.(4804-4806)gGc>gTc	p.G1602V	DIDO1_uc002yds.2_Missense_Mutation_p.G1602V	NM_001193369	NP_149072	Q9BTC0	DIDO1_HUMAN	Homo sapiens death inducer-obliterator 1 (DIDO1), transcript variant 5, mRNA.	1602					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GGGCGCCTGGCCCACGAGGCC	0.701000														11			4		0.014758	0.0151755	1	1	0
SNED1	25992	broad.mit.edu	37	2	242021117	242021117	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:242021117C>T	uc002wah.1	+	27	3942	c.3942C>T	c.(3940-3942)aaC>aaT	p.N1314N	SNED1_uc002wai.1_Silent_p.N516N|SNED1_uc002waj.1_Silent_p.N368N	NM_001080437	NP_001073906	Q8TER0	SNED1_HUMAN	Homo sapiens sushi, nidogen and EGF-like domains 1 (SNED1), mRNA.	1314	EGF-like 15.				cell-matrix adhesion	extracellular region	calcium ion binding			NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		GTTCAGAAAACCCCTGTCAGA	0.607000														4			4		0	0	1	0	0
CCDC76	54482	broad.mit.edu	37	1	100609688	100609688	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:100609688G>T	uc001dsv.3	+	8	825	c.806G>T	c.(805-807)gGt>gTt	p.G269V	CCDC76_uc010ouf.2_Non-coding_Transcript|CCDC76_uc009wea.3_Missense_Mutation_p.G269V	NM_019083	NP_061956	Q9NUP7	TRM13_HUMAN	Homo sapiens coiled-coil domain containing 76 (CCDC76), mRNA.	269					tRNA processing		metal ion binding|methyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)	21		all_epithelial(167;0.000542)|all_lung(203;0.0154)|Lung NSC(277;0.0155)		Epithelial(280;0.0814)|all cancers(265;0.133)|COAD - Colon adenocarcinoma(174;0.146)|Lung(183;0.194)		CATCTGTGTGGTATGGCAACA	0.378000														49			19		4.96729e-08	5.78267e-08	1	1	0
HEATR7A	727957	broad.mit.edu	37	8	145245827	145245827	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:145245827C>T	uc003zbk.4	+	7	940	c.703C>T	c.(703-705)Cga>Tga	p.R235*	HEATR7A_uc003zbg.2_Nonsense_Mutation_p.R235*|HEATR7A_uc003zbi.4_Nonsense_Mutation_p.R235*|HEATR7A_uc003zbh.4_Nonsense_Mutation_p.R235*|HEATR7A_uc011lla.1_Nonsense_Mutation_p.R235*|HEATR7A_uc010mft.3_Nonsense_Mutation_p.R235*	NM_032450	NP_115826	Q8NDA8	HTR7A_HUMAN	Homo sapiens HEAT repeat containing 7A (HEATR7A), transcript variant 1, mRNA.	235							binding			endometrium(2)|kidney(2)|lung(3)|skin(1)	8						GCTGCAGAGTCGAGAAGCCAA	0.607000														16			16		0	0	1	0	0
C9orf50	375759	broad.mit.edu	37	9	132374652	132374652	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:132374652C>T	uc004byc.4	-	6	1472	c.1270G>A	c.(1270-1272)Gca>Aca	p.A424T	C9orf50_uc022boo.1_Missense_Mutation_p.A423T	NM_199350	NP_955382	Q5SZB4	CI050_HUMAN	Homo sapiens chromosome 9 open reading frame 50 (C9orf50), mRNA.	424										central_nervous_system(1)|endometrium(4)|large_intestine(2)|ovary(1)|skin(1)|urinary_tract(1)	10		Ovarian(14;0.00556)				TGCAGTGTTGCGGAGGCCAGG	0.602000														24			10		0	0	1	0	0
PLCG1	5335	broad.mit.edu	37	20	39793914	39793914	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:39793914C>T	uc002xjp.1	+	13	1537	c.1416C>T	c.(1414-1416)taC>taT	p.Y472Y	PLCG1_uc002xjo.1_Silent_p.Y472Y|PLCG1_uc010zwe.1_Silent_p.Y98Y|PLCG1_uc010ggf.3_5'Flank	NM_182811	NP_877963	P19174	PLCG1_HUMAN	Homo sapiens phospholipase C, gamma 1 (PLCG1), transcript variant 2, mRNA.	472					T cell receptor signaling pathway|activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				GCAGTGCCTACGAGGAGGTGC	0.562000														52			13		0	0	1	0	0
KIAA0146	23514	broad.mit.edu	37	8	48320493	48320493	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:48320493C>T	uc003xqd.3	+	6	909	c.847C>T	c.(847-849)Caa>Taa	p.Q283*	KIAA0146_uc011lcz.2_Non-coding_Transcript|KIAA0146_uc011lda.2_Intron|KIAA0146_uc011ldb.2_Nonsense_Mutation_p.Q283*|KIAA0146_uc010lxs.3_Intron|KIAA0146_uc011ldc.2_Nonsense_Mutation_p.Q213*|KIAA0146_uc011ldd.2_Nonsense_Mutation_p.Q223*|KIAA0146_uc003xqe.3_Intron|KIAA0146_uc003xqf.3_Non-coding_Transcript|KIAA0146_uc011lde.1_Intron	NM_001080394	NP_001073863	Q14159	K0146_HUMAN	Homo sapiens KIAA0146 (KIAA0146), mRNA.	283										central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Lung NSC(58;0.175)				GTGGAGACATCAATGTATTTC	0.318000														56			6		0	0	1	0	0
ZAP70	7535	broad.mit.edu	37	2	98354296	98354296	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:98354296G>T	uc002syd.1	+	11	1766	c.1559G>T	c.(1558-1560)aGc>aTc	p.S520I	ZAP70_uc002sye.1_Missense_Mutation_p.S410I|ZAP70_uc002syf.1_Missense_Mutation_p.S213I	NM_001079	NP_997402	P43403	ZAP70_HUMAN	Homo sapiens zeta-chain (TCR) associated protein kinase 70kDa (ZAP70), transcript variant 1, mRNA.	520	Protein kinase.				T cell receptor signaling pathway|immune response|intracellular protein kinase cascade|positive thymic T cell selection	T cell receptor complex|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						TCCAGCCGCAGCGATGTCTGG	0.652000														145			10		0.000978159	0.00103832	1	1	0
MCM8	84515	broad.mit.edu	37	20	5948125	5948125	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:5948125A>G	uc002wmk.3	+	8	1296	c.919A>G	c.(919-921)Att>Gtt	p.I307V	MCM8_uc002wmi.3_Missense_Mutation_p.I307V|MCM8_uc002wmj.3_Missense_Mutation_p.I307V|MCM8_uc002wml.3_Missense_Mutation_p.I307V|MCM8_uc010gbp.3_Missense_Mutation_p.I307V	NM_032485	NP_115874	Q9UJA3	MCM8_HUMAN	Homo sapiens minichromosome maintenance complex component 8 (MCM8), transcript variant 1, mRNA.	307					DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|nucleoside-triphosphatase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						AGCAGGTCGGATTCCACGAAC	0.393000														83			7		0	0	1	0	0
CEACAM5	1048	broad.mit.edu	37	19	42213702	42213702	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:42213702C>T	uc002orl.3	+	1	289	c.168C>T	c.(166-168)caC>caT	p.H56H	CEACAM5_uc010ehz.1_Silent_p.H56H|CEACAM5_uc002orj.1_Silent_p.H56H	NM_004363	NP_004354	P06731	CEAM5_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 5 (CEACAM5), mRNA.	56	Ig-like 1.					anchored to membrane|basolateral plasma membrane|integral to plasma membrane				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		TACTTGTCCACAATCTGCCCC	0.483000														65			40		0	0	1	0	0
WDR31	114987	broad.mit.edu	37	9	116085392	116085392	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:116085392C>T	uc004bhe.3	-	5	673	c.368G>A	c.(367-369)cGt>cAt	p.R123H	WDR31_uc004bhc.3_Missense_Mutation_p.R122H|WDR31_uc004bhd.3_5'UTR|WDR31_uc004bhf.3_Non-coding_Transcript	NM_001012361	NP_001012361	Q8NA23	WDR31_HUMAN	Homo sapiens WD repeat domain 31 (WDR31), transcript variant 1, mRNA.	123										NS(1)|large_intestine(1)|lung(2)|prostate(2)	6						CATCCTGTCACGAGAGGCACT	0.512000														29			8		0	0	1	0	0
KIAA0513	9764	broad.mit.edu	37	16	85121920	85121920	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:85121920G>A	uc002fiu.3	+	12	1445	c.1225G>A	c.(1225-1227)Gcc>Acc	p.A409T	KIAA0513_uc010voj.2_Missense_Mutation_p.A399T	NM_014732	NP_055547	O60268	K0513_HUMAN	Homo sapiens KIAA0513 (KIAA0513), mRNA.	409						cytoplasm				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(9)|pancreas(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.234)		TGAGCAAATGGCCACTGAGTA	0.562000														42			26		0	0	1	0	0
KIAA1958	158405	broad.mit.edu	37	9	115422292	115422292	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:115422292C>T	uc011lwx.1	+	4	2353	c.2178C>T	c.(2176-2178)acC>acT	p.T726T	KIAA1958_uc004bgf.1_Silent_p.T698T	NM_133465	NP_597722	Q8N8K9	K1958_HUMAN	Homo sapiens KIAA1958 (KIAA1958), mRNA.	698										endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						AGAACTTCACCTTTGTCTCGT	0.607000														30			16		0	0	1	0	0
PMFBP1	83449	broad.mit.edu	37	16	72162984	72162984	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:72162984A>C	uc002fcc.4	-	12	2118	c.1946T>G	c.(1945-1947)tTt>tGt	p.F649C	PMFBP1_uc002fcd.3_Missense_Mutation_p.F644C|PMFBP1_uc002fce.3_Intron|PMFBP1_uc002fcf.3_Missense_Mutation_p.F499C|PMFBP1_uc010cgo.1_5'Flank	NM_031293	NP_112583	Q8TBY8	PMFBP_HUMAN	Homo sapiens polyamine modulated factor 1 binding protein 1 (PMFBP1), transcript variant 1, mRNA.	649										NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				TTTCTTTTTAAATTCCTGCCG	0.542000														204			16		0	0	1	0	0
TMEM43	79188	broad.mit.edu	37	3	14183116	14183116	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:14183116G>T	uc003byk.2	+	11	1278	c.1024G>T	c.(1024-1026)Gac>Tac	p.D342Y		NM_024334	NP_077310	Q9BTV4	TMM43_HUMAN	Homo sapiens transmembrane protein 43 (TMEM43), mRNA.	342						Golgi apparatus|endoplasmic reticulum|integral to membrane|nuclear inner membrane				breast(1)|cervix(3)|endometrium(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(2)	19						TGTTTTCCGAGACCTGGTCAA	0.577000														27			18		7.07596e-05	7.73367e-05	1	1	0
ECT2	1894	broad.mit.edu	37	3	172482141	172482141	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:172482141G>A	uc003fii.2	+	10	1187	c.1049G>A	c.(1048-1050)cGt>cAt	p.R350H	ECT2_uc010hwv.1_Missense_Mutation_p.R381H|ECT2_uc003fih.2_Missense_Mutation_p.R349H|ECT2_uc003fij.1_Missense_Mutation_p.R350H|ECT2_uc003fik.1_Missense_Mutation_p.R350H|ECT2_uc003fil.1_Missense_Mutation_p.R381H	NM_018098	NP_060568	Q9H8V3	ECT2_HUMAN	Homo sapiens epithelial cell transforming sequence 2 oncogene (ECT2), mRNA.	350					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			CGCAAACGACGTCGTTTAAAA	0.453000														36			28		0	0	1	0	0
AGPS	8540	broad.mit.edu	37	2	178326678	178326678	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:178326678G>A	uc002ull.2	+	8	975	c.928G>A	c.(928-930)Gta>Ata	p.V310I	AGPS_uc010zfb.1_Missense_Mutation_p.V220I	NM_003659	NP_003650	O00116	ADAS_HUMAN	Homo sapiens alkylglycerone phosphate synthase (AGPS), mRNA.	310	FAD-binding PCMH-type.				ether lipid biosynthetic process	peroxisomal matrix|peroxisomal membrane|plasma membrane	alkylglycerone-phosphate synthase activity|flavin adenine dinucleotide binding|oxidoreductase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358)			GTTCAGTACTGTAGGAGGATG	0.358000														53			8		0	0	1	0	0
MN1	4330	broad.mit.edu	37	22	28193520	28193520	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:28193520C>T	uc003adj.3	-	0	3967	c.3012G>A	c.(3010-3012)gcG>gcA	p.A1004A		NM_002430	NP_002421	Q10571	MN1_HUMAN	Homo sapiens meningioma (disrupted in balanced translocation) 1 (MN1), mRNA.	1004							binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						GCGACGTGAGCGCCTTTTCGT	0.701000			T	ETV6	"""AML, meningioma"""									27			18		0	0	1	0	0
ARID3C	138715	broad.mit.edu	37	9	34623516	34623516	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:34623516C>T	uc011lon.2	-	3	771	c.771G>A	c.(769-771)ccG>ccA	p.P257P		NM_001017363	NP_001017363	A6NKF2	ARI3C_HUMAN	Homo sapiens AT rich interactive domain 3C (BRIGHT-like) (ARID3C), mRNA.	257	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	14	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.175)		ACTGGGTCGCCGGAGGGGCGG	0.706000														39			4		0	0	1	0	0
OR1F1	4992	broad.mit.edu	37	16	3254318	3254318	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:3254318G>T	uc010uwu.2	+	0	72	c.72G>T	c.(70-72)caG>caT	p.Q24H		NM_012360	NP_036492	O43749	OR1F1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily F, member 1 (OR1F1), mRNA.	24					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(7)	11						CCCAGCAGCAGCATCTCCTCT	0.592000														31			4		0.00024832	0.000267289	1	1	0
STON1-GTF2A1L	286749	broad.mit.edu	37	2	48809188	48809188	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:48809188G>T	uc002rwp.2	+	1	1530	c.1416G>T	c.(1414-1416)gaG>gaT	p.E472D	STON1-GTF2A1L_uc021vhf.1_Missense_Mutation_p.E472D|STON1-GTF2A1L_uc002rwo.4_Missense_Mutation_p.E472D|STON1-GTF2A1L_uc010fbm.3_Missense_Mutation_p.E472D|STON1-GTF2A1L_uc010yol.2_Missense_Mutation_p.E472D	NM_172311	NP_758515	B7ZL16	B7ZL16_HUMAN	Homo sapiens STON1-GTF2A1L readthrough (STON1-GTF2A1L), transcript variant 1, mRNA.	472					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4)	91		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CCTATTATGAGAAGGACTCAG	0.358000														65			42		2.35958e-20	3.04623e-20	1	1	0
SLC6A3	6531	broad.mit.edu	37	5	1420736	1420736	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:1420736T>G	uc003jck.3	-	5	1001	c.875A>C	c.(874-876)gAc>gCc	p.D292A		NM_001044	NP_001035	Q01959	SC6A3_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, dopamine), member 3 (SLC6A3), mRNA.	292					cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	TCTGATGCCGTCTATGGCTCC	0.597000														61			40		0	0	1	0	0
DMXL1	1657	broad.mit.edu	37	5	118556656	118556656	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:118556656A>G	uc010jcl.1	+	36	8338	c.8157A>G	c.(8155-8157)atA>atG	p.I2719M	DMXL1_uc003ksd.2_Missense_Mutation_p.I2698M|DMXL1_uc021ycw.1_Missense_Mutation_p.I2525M	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN	Homo sapiens Dmx-like 1 (DMXL1), mRNA.	2698										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		TCTTGGTTATACATGCTCGTG	0.353000														47			23		0	0	1	0	0
ABCC6	368	broad.mit.edu	37	16	16315535	16315535	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:16315535G>A	uc002den.4	-	1	227	c.190C>T	c.(190-192)Cgg>Tgg	p.R64W	ABCC6_uc010bvo.3_Non-coding_Transcript|ABCC6_uc010uzz.1_Missense_Mutation_p.R64W|ABCC6_uc002deo.4_Missense_Mutation_p.R64W	NM_001171	NP_001162	O95255	MRP6_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 6 (ABCC6), transcript variant 1, mRNA.	64			R -> W.		response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		GGGGACATCCGGAGGTAGCCC	0.612000														28			12		0	0	1	0	0
CLCNKA	1187	broad.mit.edu	37	1	16353030	16353030	+	Splice_Site	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:16353030G>T	uc001axu.3	+	6	579	c.499_splice	c.e6-1	p.G167_splice	CLCNKA_uc001axt.3_Splice_Site|CLCNKA_uc010obw.2_Splice_Site_p.G124_splice|CLCNKA_uc001axv.3_Splice_Site_p.G167_splice|CLCNKA_uc010obx.1_5'Flank|CLCNKA_uc010oby.1_5'Flank|CLCNKA_uc021ogl.1_5'Flank	NM_004070	NP_004061	P51800	CLCKA_HUMAN	Homo sapiens chloride channel Ka (CLCNKA), transcript variant 1, mRNA.	167					excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	TCCCTCTGCAGGGCCCTTTCG	0.662000														18			18		3.99206e-14	4.99145e-14	1	1	0
HEATR4	399671	broad.mit.edu	37	14	73945427	73945427	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:73945427C>T	uc021rwe.1	-	17	3313	c.2965G>A	c.(2965-2967)Gct>Act	p.A989T	AK055876_uc001xoi.1_Non-coding_Transcript|HEATR4_uc021rwf.1_Missense_Mutation_p.A942T	NM_001220484	NP_001207413			Homo sapiens HEAT repeat containing 4 (HEATR4), transcript variant 1, mRNA.											breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		GGTCCCACAGCAATCCTTTTC	0.453000														56			42		0	0	1	0	0
ACOX1	51	broad.mit.edu	37	17	73951917	73951917	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:73951917G>T	uc002jqe.3	-	4	1011	c.650C>A	c.(649-651)cCt>cAt	p.P217H	ACOX1_uc010wsq.2_Missense_Mutation_p.P179H|ACOX1_uc010wsr.2_Missense_Mutation_p.P149H|ACOX1_uc002jqf.3_Missense_Mutation_p.P217H	NM_004035	NP_001171968	Q15067	ACOX1_HUMAN	Homo sapiens acyl-CoA oxidase 1, palmitoyl (ACOX1), transcript variant 1, mRNA.	217					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|prostaglandin metabolic process|very long-chain fatty acid metabolic process	peroxisomal matrix	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity|flavin adenine dinucleotide binding|protein N-terminus binding			large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(1)	14						ACCTGGCAAAGGCTTATGGGT	0.428000														209			24		7.92952e-12	9.72855e-12	1	1	0
GNRHR	2798	broad.mit.edu	37	4	68619905	68619905	+	Missense_Mutation	SNP	G	A	A	rs150422225		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:68619905G>A	uc003hdn.3	-	0	1900	c.149C>T	c.(148-150)gCg>gTg	p.A50V	LOC550112_uc003hdl.4_Intron|GNRHR_uc003hdm.3_Missense_Mutation_p.A50V	NM_000406	NP_000397	P30968	GNRHR_HUMAN	Homo sapiens gonadotropin-releasing hormone receptor (GNRHR), transcript variant 1, mRNA.	50					multicellular organismal development	integral to plasma membrane	gonadotropin-releasing hormone receptor activity			endometrium(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	13					Abarelix(DB00106)|Cetrorelix(DB00050)|Danazol(DB01406)|Gonadorelin(DB00644)|Leuprolide(DB00007)|Nafarelin(DB00666)	ATTAAAGGTCGCAGAGAGCAG	0.443000														51			33		0	0	1	0	0
CACNG7	59284	broad.mit.edu	37	19	54418628	54418628	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:54418628G>A	uc002qcr.2	+	2	388	c.293G>A	c.(292-294)cGc>cAc	p.R98H	CACNG7_uc010era.2_Missense_Mutation_p.R98H	NM_031896	NP_114102	P62955	CCG7_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 7 (CACNG7), mRNA.	98					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.R98H(2)		NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0711)		GAGACAGTGCGCACGGCCACC	0.627000														25			9		0	0	1	0	0
ABCG8	64241	broad.mit.edu	37	2	44078951	44078951	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:44078951G>A	uc002rtq.3	+	3	641	c.551G>A	c.(550-552)cGt>cAt	p.R184H	ABCG8_uc010yoa.2_Missense_Mutation_p.R184H	NM_022437	NP_071882	Q9H221	ABCG8_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 8 (ABCG8), mRNA.	184	ABC transporter.		R -> H (in STSL).		cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity	p.R184H(2)|p.R184L(2)		NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CAGGCCCAGCGTGACAAAAGG	0.622000														53			21		0	0	1	0	0
FKBP9	11328	broad.mit.edu	37	7	33039868	33039868	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:33039868C>T	uc011kal.2	+	8	1708	c.1527C>T	c.(1525-1527)ggC>ggT	p.G509G	AVL9_uc011kai.2_Intron|FKBP9_uc011kak.1_Non-coding_Transcript|FKBP9_uc003tdh.3_Silent_p.G456G|FKBP9_uc011kam.2_Silent_p.G224G	NM_007270	NP_009201	O95302	FKBP9_HUMAN	Homo sapiens FK506 binding protein 9, 63 kDa (FKBP9), mRNA.	456	EF-hand 1.				protein folding	endoplasmic reticulum|membrane	FK506 binding|calcium ion binding|peptidyl-prolyl cis-trans isomerase activity			central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	39			GBM - Glioblastoma multiforme(11;0.0156)			GGGAAGCTGGCGTGGGTGAGT	0.527000														26			8		0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38879306	38879306	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:38879306A>C	uc021yzh.1	+	65	9912	c.9803A>C	c.(9802-9804)aAc>aCc	p.N3268T	DNAH8_uc003ooe.2_Missense_Mutation_p.N3051T|LOC100131047_uc003oof.2_Intron	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GGTTATAAAAACATTTATGCT	0.358000														57			4		0	0	1	0	0
ABHD8	79575	broad.mit.edu	37	19	17411728	17411728	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:17411728T>C	uc002ngb.4	-	1	938	c.698A>G	c.(697-699)gAc>gGc	p.D233G		NM_024527	NP_078803	Q96I13	ABHD8_HUMAN	Homo sapiens abhydrolase domain containing 8 (ABHD8), mRNA.	233							hydrolase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	9						TGCTCGCATGTCCTCAGCCAG	0.622000														59			31		0	0	1	0	0
TEAD3	7005	broad.mit.edu	37	6	35446068	35446068	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:35446068G>A	uc003oku.4	-	6	750	c.514C>T	c.(514-516)Cct>Tct	p.P172S	TEAD3_uc003okt.3_Missense_Mutation_p.P61S|TEAD3_uc010jvx.3_Missense_Mutation_p.P112S	NM_003214	NP_003205	Q99594	TEAD3_HUMAN	Homo sapiens TEA domain family member 3 (TEAD3), mRNA.	172	Pro-rich.				female pregnancy|hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	10						GAGGGTCCAGGCTGCTGTCCC	0.607000														13			10		0	0	1	0	0
RANBP6	26953	broad.mit.edu	37	9	6014625	6014625	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:6014625T>C	uc003zjr.3	-	0	1016	c.983A>G	c.(982-984)gAc>gGc	p.D328G	RANBP6_uc011lmf.2_Intron|RANBP6_uc003zjs.3_Intron	NM_012416	NP_036548	O60518	RNBP6_HUMAN	Homo sapiens RAN binding protein 6 (RANBP6), transcript variant 1, mRNA.	328					protein transport	cytoplasm|nucleus	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		ATTTACCCAGTCCTCATCATC	0.418000														64			5		0	0	1	0	0
IL27RA	9466	broad.mit.edu	37	19	14160031	14160031	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:14160031C>T	uc002mxx.3	+	9	1730	c.1307C>T	c.(1306-1308)gCg>gTg	p.A436V		NM_004843	NP_004834	Q6UWB1	I27RA_HUMAN	Homo sapiens interleukin 27 receptor, alpha (IL27RA), mRNA.	436	Fibronectin type-III 3.				cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	26						CCCGCCATAGCGTGGGGAGAG	0.637000											OREG0025303	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		23			16		0	0	1	0	0
MRPS30	10884	broad.mit.edu	37	5	44809028	44809028	+	Splice_Site	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:44809028C>T	uc003joh.3	+	1	1	c.-37_splice	c.e1-1		MRPS30_uc003joi.1_5'Flank	NM_016640	NP_057724	Q9NP92	RT30_HUMAN	Homo sapiens mitochondrial ribosomal protein S30 (MRPS30), nuclear gene encoding mitochondrial protein, mRNA.						apoptosis|translation	mitochondrion|ribosome	structural constituent of ribosome			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(11)|prostate(1)	20	Lung NSC(6;8.08e-07)					AGGACAATTGCTTAAGTTGAC	0.582000														6			6		0	0	1	0	0
LAMA2	3908	broad.mit.edu	37	6	129813206	129813206	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:129813206C>T	uc021zfb.1	+	56	8164	c.8059C>T	c.(8059-8061)Ctt>Ttt	p.L2687F	LAMA2_uc003qbn.3_Missense_Mutation_p.L2685F|LAMA2_uc003qbo.3_Missense_Mutation_p.L2681F|BC035400_uc003qbq.3_Intron	NM_000426	NP_000417	P24043	LAMA2_HUMAN	Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA.	2687	Laminin G-like 3.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	p.L2687I(2)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CATATGGAATCTTGTTATTAA	0.383000														57			21		0	0	1	0	0
PLEKHG4	25894	broad.mit.edu	37	16	67322137	67322137	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:67322137G>A	uc010cef.3	+	19	3587	c.3288G>A	c.(3286-3288)tcG>tcA	p.S1096S	PLEKHG4_uc002eso.4_Silent_p.S1096S|PLEKHG4_uc002esp.4_Silent_p.S903S|PLEKHG4_uc002esq.4_Silent_p.S1096S|PLEKHG4_uc002ess.4_Silent_p.S1096S|PLEKHG4_uc010ceg.3_Silent_p.S1015S	NM_001129728	NP_056247	Q58EX7	PKHG4_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 4 (PLEKHG4), transcript variant 3, mRNA.	1096					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	p.A1095V(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		TGGGGGCCTCGAACTCCCTTC	0.607000														112			15		0	0	1	0	0
CSNK1G3	1456	broad.mit.edu	37	5	122950078	122950078	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:122950078G>A	uc003ktm.3	+	12	2051	c.1332G>A	c.(1330-1332)caG>caA	p.Q444Q	CSNK1G3_uc003ktl.3_Silent_p.Q452Q|CSNK1G3_uc003ktn.3_Silent_p.Q420Q|CSNK1G3_uc003kto.3_Silent_p.Q412Q|CSNK1G3_uc011cwr.2_Silent_p.Q345Q|CSNK1G3_uc011cws.2_Silent_p.Q308Q|CSNK1G3_uc010jda.3_Silent_p.Q421Q	NM_004384	NP_004375	Q9Y6M4	KC1G3_HUMAN	Homo sapiens casein kinase 1, gamma 3 (CSNK1G3), transcript variant 1, mRNA.	444					Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(1)	15		all_cancers(142;0.0156)|Prostate(80;0.0322)|Lung NSC(810;0.245)	KIRC - Kidney renal clear cell carcinoma(527;0.165)|Kidney(363;0.229)	OV - Ovarian serous cystadenocarcinoma(64;0.000121)|Epithelial(69;0.000227)|all cancers(49;0.00176)		AAACCATACAGCGCCACAAAT	0.388000														47			9		0	0	1	0	0
ADPGK	83440	broad.mit.edu	37	15	73052808	73052808	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:73052808C>T	uc002avg.4	-	3	677	c.583G>A	c.(583-585)Gtt>Att	p.V195I	ADPGK_uc010ukw.2_Missense_Mutation_p.V137I|ADPGK_uc002avf.4_Missense_Mutation_p.V195I|ADPGK_uc002avi.4_Missense_Mutation_p.V73I|ADPGK_uc002avh.4_5'UTR	NM_031284	NP_112574	Q9BRR6	ADPGK_HUMAN	Homo sapiens ADP-dependent glucokinase (ADPGK), transcript variant 1, mRNA.	195	ADPK.				glycolysis	extracellular region	ADP-specific glucokinase activity|metal ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(1)	7						TCTGGTGGAACAAAGACATTG	0.473000														74			42		0	0	1	0	0
VPS13C	54832	broad.mit.edu	37	15	62201256	62201256	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:62201256A>G	uc002agz.3	-	64	9004	c.8913T>C	c.(8911-8913)caT>caC	p.H2971H	VPS13C_uc002aha.3_Silent_p.H2928H|VPS13C_uc002ahb.2_Silent_p.H2971H|VPS13C_uc002ahc.2_Silent_p.H2928H|VPS13C_uc002ahd.1_Silent_p.H348H	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog C (S. cerevisiae) (VPS13C), transcript variant 2A, mRNA.	2971					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						CAGATCCCTCATGGTAATCAG	0.373000														65			8		0	0	1	0	0
GCM2	9247	broad.mit.edu	37	6	10876185	10876185	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:10876185G>A	uc003mzn.4	-	3	593	c.521C>T	c.(520-522)gCc>gTc	p.A174V	SYCP2L_uc011dim.1_Intron	NM_004752	NP_004743	O75603	GCM2_HUMAN	Homo sapiens glial cells missing homolog 2 (Drosophila) (GCM2), mRNA.	174					cellular calcium ion homeostasis|cellular phosphate ion homeostasis|parathyroid gland development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|sequence-specific DNA binding	p.A174T(1)|p.S173S(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	30	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)				TCTCTTGATGGCGCTTCTTCT	0.463000														71			45		0	0	1	0	0
KIAA0020	9933	broad.mit.edu	37	9	2831319	2831319	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:2831319C>T	uc003zhp.1	-	5	638	c.542G>A	c.(541-543)cGt>cAt	p.R181H	KIAA0020_uc003zhq.1_Missense_Mutation_p.R181H	NM_014878	NP_055693	Q15397	K0020_HUMAN	Homo sapiens KIAA0020 (KIAA0020), mRNA.	181	PUM-HD.					endoplasmic reticulum|nucleolus	RNA binding	p.R181P(2)		NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(50;0.0319)		CTGGATCACACGAGTTGAATC	0.338000														47			18		0	0	1	0	0
AGFG2	3268	broad.mit.edu	37	7	100153290	100153290	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100153290G>T	uc003uvf.3	+	5	945	c.809G>T	c.(808-810)aGc>aTc	p.S270I	AGFG2_uc003uvg.1_3'UTR	NM_006076	NP_006067	O95081	AGFG2_HUMAN	Homo sapiens ArfGAP with FG repeats 2 (AGFG2), mRNA.	270					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						AGTGGCCCCAGCTCTTCTGTG	0.522000														143			9		2.62144e-13	3.25969e-13	1	1	0
IL20RA	53832	broad.mit.edu	37	6	137330486	137330486	+	Missense_Mutation	SNP	C	T	T	rs143005532	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:137330486C>T	uc003qhj.3	-	3	980	c.547G>A	c.(547-549)Gtg>Atg	p.V183M	IL20RA_uc011edl.2_Missense_Mutation_p.V134M|IL20RA_uc003qhk.3_Missense_Mutation_p.V72M|IL20RA_uc010kgy.1_Non-coding_Transcript|IL20RA_uc003qhi.3_5'Flank	NM_014432	NP_055247	Q9UHF4	I20RA_HUMAN	Homo sapiens interleukin 20 receptor, alpha (IL20RA), mRNA.	183	Fibronectin type-III 2.					integral to membrane	receptor activity			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459)		AACACAGACACGTTATACTTC	0.418000														79			35		0	0	1	0	0
TMEM119	338773	broad.mit.edu	37	12	108985995	108985995	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:108985995C>T	uc001tng.3	-	1	328	c.165G>A	c.(163-165)ccG>ccA	p.P55P	TMEM119_uc021rdl.1_Silent_p.P55P	NM_181724	NP_859075	Q4V9L6	TM119_HUMAN	Homo sapiens transmembrane protein 119 (TMEM119), mRNA.	55						integral to membrane		p.P55P(2)		large_intestine(2)|lung(3)|ovary(1)|skin(1)	7						TCCAGGGTGGCGGGAGGCTCG	0.706000														10			6		0	0	1	0	0
MS4A4A	51338	broad.mit.edu	37	11	60075626	60075626	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:60075626C>T	uc001noz.3	+	6	830	c.695C>T	c.(694-696)tCt>tTt	p.S232F	MS4A4A_uc001npa.3_Missense_Mutation_p.S213F|MS4A4A_uc001npc.3_Missense_Mutation_p.S179F	NM_148975	NP_076926	Q96JQ5	M4A4A_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 4 (MS4A4A), transcript variant 1, mRNA.	232						integral to membrane	receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(12)|prostate(1)|skin(4)	23						GAAACAGCATCTCCCACACCA	0.448000														66			36		0	0	1	0	0
AKAP1	8165	broad.mit.edu	37	17	55183014	55183014	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:55183014C>A	uc010wnl.2	+	2	471	c.189C>A	c.(187-189)gtC>gtA	p.V63V	AKAP1_uc002iux.3_Silent_p.V63V|AKAP1_uc021uak.1_Silent_p.V63V|AKAP1_uc010dcm.3_Silent_p.V63V|AKAP1_uc002iuy.3_Non-coding_Transcript	NM_001242902	NP_001229831	Q92667	AKAP1_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 1 (AKAP1), transcript variant 2, mRNA.	63					blood coagulation	cytosol|integral to membrane|mitochondrial outer membrane	RNA binding|protein binding			endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14	Breast(9;5.46e-08)					TGGAAGACGTCTGTCCCAAAG	0.602000														21			8		0.00307968	0.00322291	1	1	0
MOV10L1	54456	broad.mit.edu	37	22	50558970	50558970	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:50558970T>C	uc003bjj.3	+	9	1577	c.1494T>C	c.(1492-1494)taT>taC	p.Y498Y	MOV10L1_uc003bjk.4_Silent_p.Y498Y|MOV10L1_uc011arp.2_Silent_p.Y478Y|MOV10L1_uc011arq.1_Silent_p.Y259Y|MOV10L1_uc010hao.1_Intron	NM_018995	NP_061868	Q9BXT6	M10L1_HUMAN	Homo sapiens Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse) (MOV10L1), transcript variant 1, mRNA.	498					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|RNA binding|magnesium ion binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		TTCCCCAATATCCAATCCCAG	0.378000														126			8		0	0	1	0	0
GRM2	2912	broad.mit.edu	37	3	51749692	51749692	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:51749692C>T	uc010hlv.3	+	3	2142	c.1903C>T	c.(1903-1905)Cgg>Tgg	p.R635W	GRM2_uc003dbo.4_Missense_Mutation_p.R17W|GRM2_uc010hlu.3_Non-coding_Transcript	NM_000839	NP_000830	Q14416	GRM2_HUMAN	Homo sapiens glutamate receptor, metabotropic 2 (GRM2), transcript variant 1, mRNA.	635					synaptic transmission	integral to plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acamprosate(DB00659)|Nicotine(DB00184)	GTGTACCTTACGGCGTCTTGG	0.587000														39			21		0	0	1	0	0
KDM3A	55818	broad.mit.edu	37	2	86705788	86705788	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:86705788C>T	uc002sri.4	+	14	2573	c.2246C>T	c.(2245-2247)gCa>gTa	p.A749V	KDM3A_uc010ytj.2_Missense_Mutation_p.A749V|KDM3A_uc010ytk.2_Missense_Mutation_p.A697V	NM_018433	NP_060903	Q9Y4C1	KDM3A_HUMAN	Homo sapiens lysine (K)-specific demethylase 3A (KDM3A), transcript variant 1, mRNA.	749					androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						GGAATAAAGGCAAACTGCCCT	0.393000														57			17		0	0	1	0	0
TGIF1	7050	broad.mit.edu	37	18	3457843	3457843	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:3457843G>A	uc002klz.3	+	2	1498	c.1111G>A	c.(1111-1113)Gac>Aac	p.D371N	TGIF1_uc002klu.3_Missense_Mutation_p.D222N|TGIF1_uc002klv.3_Missense_Mutation_p.D256N|TGIF1_uc002klx.3_Missense_Mutation_p.D222N|TGIF1_uc002klw.3_Missense_Mutation_p.D242N|TGIF1_uc002kly.3_Missense_Mutation_p.D242N|TGIF1_uc002kma.3_Missense_Mutation_p.D222N|TGIF1_uc002kmb.3_Missense_Mutation_p.D222N|TGIF1_uc002kmc.3_Missense_Mutation_p.D222N	NM_170695	NP_777480	Q15583	TGIF1_HUMAN	Homo sapiens TGFB-induced factor homeobox 1 (TGIF1), transcript variant 1, mRNA.	371					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			cervix(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13	Esophageal squamous(4;0.0859)	Colorectal(8;0.0104)				TACTCCACCGGACCTCAACCA	0.493000														28			24		0	0	1	0	0
CYBB	1536	broad.mit.edu	37	X	37642787	37642787	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:37642787C>T	uc004ddr.2	+	2	247	c.186C>T	c.(184-186)ttC>ttT	p.F62F	CYBB_uc011mke.1_Non-coding_Transcript|CYBB_uc011mkf.1_Silent_p.F30F|CYBB_uc011mkg.1_5'UTR	NM_000397	NP_000388	P04839	CY24B_HUMAN	Homo sapiens cytochrome b-245, beta polypeptide (CYBB), mRNA.	62	Ferric oxidoreductase.				electron transport chain|inflammatory response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|heme binding|protein heterodimerization activity|superoxide-generating NADPH oxidase activity|voltage-gated ion channel activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|prostate(2)|skin(2)	32						GCCTGAATTTCAACTGCATGC	0.502000														48			6		0	0	1	0	0
DPYD	1806	broad.mit.edu	37	1	98165066	98165066	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:98165066G>T	uc001drv.3	-	5	658	c.521C>A	c.(520-522)cCt>cAt	p.P174H	DPYD_uc010oub.1_Non-coding_Transcript	NM_000110	NP_000101	Q12882	DPYD_HUMAN	Homo sapiens dihydropyrimidine dehydrogenase (DPYD), transcript variant 1, mRNA.	174					'de novo' pyrimidine base biosynthetic process|UMP biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|NADP binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	AGGCAGCGAAGGATTTCTGAT	0.403000														241			62		3.89499e-28	5.12465e-28	1	1	0
ZNF425	155054	broad.mit.edu	37	7	148809367	148809367	+	Missense_Mutation	SNP	C	A	A	rs144417073		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:148809367C>A	uc003wfj.3	-	2	299	c.166G>T	c.(166-168)Gat>Tat	p.D56Y		NM_001001661	NP_001001661	Q6IV72	ZN425_HUMAN	Homo sapiens zinc finger protein 425 (ZNF425), mRNA.	56	KRAB.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			GTGATCAAATCTGGCTTGGAA	0.428000														129			114		1.46925e-46	1.9563e-46	1	1	0
CAPN13	92291	broad.mit.edu	37	2	31010224	31010224	+	Splice_Site	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:31010224C>A	uc021vfn.1	-	1	1	c.-31_splice	c.e1-1		CAPN13_uc021vfm.1_Splice_Site|CAPN13_uc002rnp.1_Splice_Site	NM_144575	NP_653176	Q6MZZ7	CAN13_HUMAN	Homo sapiens calpain 13 (CAPN13), mRNA.						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)					AGGTCCTTTCCTGTTGGTGAG	0.478000														8			7		8.12818e-05	8.84769e-05	1	1	0
PCDH15	65217	broad.mit.edu	37	10	56138598	56138598	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:56138598C>T	uc010qhy.1	-	4	672	c.277G>A	c.(277-279)Gat>Aat	p.D93N	PCDH15_uc010qhq.2_Missense_Mutation_p.D93N|PCDH15_uc010qhr.2_Missense_Mutation_p.D88N|PCDH15_uc021pqv.1_Missense_Mutation_p.D88N|PCDH15_uc021pqw.1_Missense_Mutation_p.D93N|PCDH15_uc010qht.2_Missense_Mutation_p.D88N|PCDH15_uc021pqx.1_Missense_Mutation_p.D88N|PCDH15_uc001jjv.1_Missense_Mutation_p.D66N|PCDH15_uc021pqy.1_Missense_Mutation_p.D88N|PCDH15_uc021pqz.1_Missense_Mutation_p.D66N|PCDH15_uc010qhv.1_Missense_Mutation_p.D88N|PCDH15_uc010qhw.1_Missense_Mutation_p.D88N|PCDH15_uc010qhx.1_Missense_Mutation_p.D88N|PCDH15_uc010qhz.1_Missense_Mutation_p.D88N|PCDH15_uc010qia.1_Missense_Mutation_p.D66N|PCDH15_uc001jju.1_Missense_Mutation_p.D88N|PCDH15_uc010qib.1_Missense_Mutation_p.D66N|PCDH15_uc001jjw.3_Missense_Mutation_p.D88N	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	88	Cadherin 1.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	p.D88Y(3)|p.D93Y(2)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TTAACAGGATCCATCAACACC	0.403000										HNSCC(58;0.16)				141			13		0	0	1	0	0
KIAA1456	57604	broad.mit.edu	37	8	12863727	12863727	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:12863727G>A	uc010lsq.3	+	2	508	c.16G>A	c.(16-18)Gcc>Acc	p.A6T	KIAA1456_uc011kxw.2_Missense_Mutation_p.A6T	NM_020844	NP_001093147	Q9P272	K1456_HUMAN	Homo sapiens KIAA1456 (KIAA1456), transcript variant 1, mRNA.	6							methyltransferase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7						TCATGAAGCCGCCCAGCTGGA	0.542000														16			9		0	0	1	0	0
PI4KA	5297	broad.mit.edu	37	22	21083711	21083711	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:21083711G>A	uc002zsz.4	-	38	4659	c.4398C>T	c.(4396-4398)agC>agT	p.S1466S	PI4KA_uc002zsy.4_Silent_p.S276S	NM_058004	NP_477352	P42356	PI4KA_HUMAN	Homo sapiens phosphatidylinositol 4-kinase, catalytic, alpha (PI4KA), transcript variant 1, mRNA.	1466					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			AGTTGGCCACGCTGTTCTCTC	0.562000														13			8		0	0	1	0	0
FAM83H	286077	broad.mit.edu	37	8	144808233	144808233	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:144808233T>C	uc003yzk.3	-	4	3467	c.3398A>G	c.(3397-3399)tAc>tGc	p.Y1133C		NM_198488	NP_940890	Q6ZRV2	FA83H_HUMAN	Homo sapiens family with sequence similarity 83, member H (FAM83H), mRNA.	1133					biomineral tissue development					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GAAGCGGCTGTACACGCGCTT	0.701000														21			3		0	0	1	0	0
KIF17	57576	broad.mit.edu	37	1	21031096	21031096	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:21031096G>T	uc001bdr.4	-	4	1085	c.967C>A	c.(967-969)Ctc>Atc	p.L323I	KIF17_uc001bds.4_Missense_Mutation_p.L323I	NM_020816	NP_065867	Q9P2E2	KIF17_HUMAN	Homo sapiens kinesin family member 17 (KIF17), transcript variant 1, mRNA.	323					microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		AGCGTGCTGAGTGTCTCATCG	0.617000														48			7		0.0581538	0.0591027	1	1	0
CAPZA3	93661	broad.mit.edu	37	12	18891730	18891730	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:18891730C>T	uc001rdy.3	+	0	686	c.528C>T	c.(526-528)ttC>ttT	p.F176F	PLCZ1_uc001rdv.4_5'Flank|PLCZ1_uc001rdw.4_5'Flank|PLCZ1_uc021qvx.1_5'Flank	NM_033328	NP_201585	Q96KX2	CAZA3_HUMAN	Homo sapiens capping protein (actin filament) muscle Z-line, alpha 3 (CAPZA3), mRNA.	176					actin cytoskeleton organization|actin filament capping	F-actin capping protein complex	actin binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				AATGGATTTTCCAAGTTAACC	0.388000														69			7		0	0	1	0	0
FAM160B2	64760	broad.mit.edu	37	8	21955336	21955336	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:21955336G>A	uc011kyx.2	+	4	562	c.511G>A	c.(511-513)Gcc>Acc	p.A171T	FAM160B2_uc011kyy.2_Non-coding_Transcript	NM_022749	NP_073586	Q86V87	F16B2_HUMAN	Homo sapiens family with sequence similarity 160, member B2 (FAM160B2), mRNA.	171										endometrium(2)|kidney(1)|lung(2)|prostate(3)|urinary_tract(1)	9						AGAGCTGCTCGCCTACATCCT	0.617000														16			9		0	0	1	0	0
OVCH1	341350	broad.mit.edu	37	12	29604283	29604283	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:29604283G>A	uc001rix.1	-	21	2750	c.2750C>T	c.(2749-2751)aCg>aTg	p.T917M		NM_183378	NP_899234	Q7RTY7	OVCH1_HUMAN	Homo sapiens ovochymase 1 (OVCH1), mRNA.	917	CUB 3.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					ATTACCTGCCGTCTTTCTCTT	0.413000														20			8		0	0	1	0	0
RPGRIP1	57096	broad.mit.edu	37	14	21793078	21793078	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:21793078G>A	uc001wag.3	+	13	2064	c.2064G>A	c.(2062-2064)tcG>tcA	p.S688S	RPGRIP1_uc001wah.3_Silent_p.S330S|RPGRIP1_uc001wai.3_Intron|RPGRIP1_uc001waj.1_Silent_p.S153S|RPGRIP1_uc001wak.3_Silent_p.S163S|RPGRIP1_uc010aim.3_Silent_p.S71S|RPGRIP1_uc001wal.3_Silent_p.S47S|RPGRIP1_uc001wam.3_Silent_p.S5S	NM_020366	NP_065099	Q96KN7	RPGR1_HUMAN	Homo sapiens retinitis pigmentosa GTPase regulator interacting protein 1 (RPGRIP1), mRNA.	688					response to stimulus|visual perception	cilium				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		AGACAGATTCGCTTTTCTTAC	0.502000														93			46		0	0	1	0	0
SEC24A	10802	broad.mit.edu	37	5	134023989	134023989	+	Splice_Site	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:134023989G>T	uc003kzs.3	+	11	2015	c.1723_splice	c.e11+1	p.D575_splice	SEC24A_uc021ydr.1_Splice_Site_p.D575_splice|SEC24A_uc011cxu.2_Splice_Site_p.D339_splice	NM_021982	NP_068817	O95486	SC24A_HUMAN	Homo sapiens SEC24 family, member A (S. cerevisiae) (SEC24A), transcript variant 1, mRNA.	575					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|Golgi membrane|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	zinc ion binding			NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AGATATTGAAGGTATAGATTT	0.308000														41			5		1.23904e-05	1.3743e-05	1	1	0
CRB2	286204	broad.mit.edu	37	9	126132729	126132729	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:126132729G>A	uc004bnx.1	+	6	1489	c.1397G>A	c.(1396-1398)cGc>cAc	p.R466H	CRB2_uc004bnw.1_Missense_Mutation_p.R466H	NM_173689	NP_775960	Q5IJ48	CRUM2_HUMAN	Homo sapiens crumbs homolog 2 (Drosophila) (CRB2), mRNA.	466	Laminin G-like 1.					extracellular region|integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						CTGAGGTTTCGCACCACACTG	0.612000														22			16		0	0	1	0	0
DHX40	79665	broad.mit.edu	37	17	57682891	57682891	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:57682891C>T	uc002ixn.2	+	16	2203	c.2056C>T	c.(2056-2058)Cca>Tca	p.P686S	DHX40_uc010woe.2_Missense_Mutation_p.P609S|DHX40_uc010wof.2_Missense_Mutation_p.P201S	NM_024612	NP_078888	Q8IX18	DHX40_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 40 (DHX40), transcript variant 1, mRNA.	686							ATP binding|ATP-dependent helicase activity|nucleic acid binding			endometrium(7)|large_intestine(6)|lung(6)|prostate(1)	20	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					AATTGTATGCCCAATCCGTTA	0.403000														29			21		0	0	1	0	0
LEMD2	221496	broad.mit.edu	37	6	33740543	33740543	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:33740543C>A	uc011drm.2	-	8	1387	c.1374G>T	c.(1372-1374)aaG>aaT	p.K458N	LEMD2_uc010jvg.3_Missense_Mutation_p.K167N|LEMD2_uc011drl.2_Missense_Mutation_p.K156N	NM_181336	NP_851853	Q8NC56	LEMD2_HUMAN	Homo sapiens LEM domain containing 2 (LEMD2), transcript variant 1, mRNA.	458						integral to nuclear inner membrane				central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(2)|pancreas(1)	9						CCCAGACACGCTTCATGCGCC	0.622000														12			6		0.00198382	0.00208369	1	1	0
PCDHAC2	56134	broad.mit.edu	37	5	140214409	140214409	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140214409G>A	uc003lhq.2	+	0	441	c.441G>A	c.(439-441)ccG>ccA	p.P147P	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_Silent_p.P147P	NM_018910	NP_061733	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 7 (PCDHA7), transcript variant 1, mRNA.	162	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.R147C(1)|p.P146L(1)		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)			AATCCAGGCCGCTTGACTCTC	0.547000														25			24		0	0	1	0	0
PTCHD1	139411	broad.mit.edu	37	X	23353126	23353126	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:23353126G>A	uc004dal.4	+	0	142	c.134G>A	c.(133-135)cGc>cAc	p.R45H	PTCHD1_uc010nfu.2_Missense_Mutation_p.R45H	NM_173495	NP_775766	Q96NR3	PTHD1_HUMAN	Homo sapiens patched domain containing 1 (PTCHD1), mRNA.	45					cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						AGCTTCAGCCGCTACCAGGTC	0.647000														25			16		0	0	1	0	0
TMEM179B	374395	broad.mit.edu	37	11	62557503	62557503	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:62557503G>A	uc001nvd.4	+	4	674	c.644G>A	c.(643-645)cGc>cAc	p.R215H		NM_199337	NP_955369	Q7Z7N9	T179B_HUMAN	Homo sapiens transmembrane protein 179B (TMEM179B), mRNA.	215						integral to membrane				kidney(1)|large_intestine(1)|liver(1)|lung(1)	4						GTTGGGTCACGCCTTTCCCAT	0.582000														21			27		0	0	1	0	0
IRAK3	11213	broad.mit.edu	37	12	66641935	66641935	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:66641935A>G	uc001sth.3	+	11	1877	c.1775A>G	c.(1774-1776)cAg>cGg	p.Q592R	IRAK3_uc010ssy.2_Missense_Mutation_p.Q531R	NM_007199	NP_009130	Q9Y616	IRAK3_HUMAN	Homo sapiens interleukin-1 receptor-associated kinase 3 (IRAK3), transcript variant 1, mRNA.	592					MyD88-dependent toll-like receptor signaling pathway|interleukin-1-mediated signaling pathway|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of NF-kappaB transcription factor activity|positive regulation of macrophage tolerance induction|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(28;0.0203)		GAATATGAACAGTACAAAAAA	0.418000														66			10		0	0	1	0	0
FAM98C	147965	broad.mit.edu	37	19	38899416	38899416	+	Missense_Mutation	SNP	G	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:38899416G>C	uc002oin.1	+	7	963	c.944G>C	c.(943-945)cGg>cCg	p.R315P	FAM98C_uc002oio.1_Missense_Mutation_p.R233P|FAM98C_uc010xtz.1_Silent_p.P181P	NM_174905	NP_777565	Q17RN3	FA98C_HUMAN	Homo sapiens family with sequence similarity 98, member C (FAM98C), mRNA.	315								p.R315L(2)		endometrium(2)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(60;3.95e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GTTCCAGACCGGGGGGGCCGC	0.562000														61			9		0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77765762	77765762	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:77765762T>C	uc003yau.2	+	9	6992	c.6605T>C	c.(6604-6606)gTt>gCt	p.V2202A	ZFHX4_uc003yaw.1_Missense_Mutation_p.V2157A	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	2157						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CCTATAACGGTTTTAGAAGAT	0.358000										HNSCC(33;0.089)				68			46		0	0	1	0	0
SGIP1	84251	broad.mit.edu	37	1	67137651	67137651	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:67137651G>A	uc001dcr.3	+	10	750	c.533G>A	c.(532-534)cGt>cAt	p.R178H	SGIP1_uc010opd.2_5'UTR|SGIP1_uc001dcs.3_5'UTR|SGIP1_uc001dct.3_5'UTR|AK298300_uc010ope.1_Intron|SGIP1_uc009wat.3_5'UTR	NM_032291	NP_115667	Q9BQI5	SGIP1_HUMAN	Homo sapiens SH3-domain GRB2-like (endophilin) interacting protein 1 (SGIP1), mRNA.	178	Pro-rich.				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	SH3 domain binding|microtubule binding|phospholipid binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						AGACCCAGGCGTTCCACACCA	0.378000														14			15		0	0	1	0	0
MYO9B	4650	broad.mit.edu	37	19	17212988	17212988	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:17212988T>C	uc010eak.3	+	1	613	c.461T>C	c.(460-462)cTc>cCc	p.L154P	MYO9B_uc002nfi.3_Missense_Mutation_p.L154P|MYO9B_uc002nfj.1_Missense_Mutation_p.L154P	NM_004145	NP_004136	Q13459	MYO9B_HUMAN	Homo sapiens myosin IXB (MYO9B), transcript variant 1, mRNA.	154	Myosin head-like.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	ADP binding|ATP binding|ATPase activity|Rho GTPase activator activity|actin binding|calmodulin binding|metal ion binding|microfilament motor activity			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						CTGTGTAACCTCCCCGAGCTA	0.617000														43			24		0	0	1	0	0
RNF145	153830	broad.mit.edu	37	5	158601151	158601151	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:158601151C>T	uc010jiq.2	-	5	877	c.727G>A	c.(727-729)Ggc>Agc	p.G243S	RNF145_uc011ddy.2_Missense_Mutation_p.G227S|RNF145_uc003lxo.2_Missense_Mutation_p.G241S|RNF145_uc011ddz.2_Missense_Mutation_p.G230S|RNF145_uc003lxp.3_Missense_Mutation_p.G213S|RNF145_uc011dea.2_Missense_Mutation_p.G229S	NM_001199380	NP_001186309	Q96MT1	RN145_HUMAN	Homo sapiens ring finger protein 145 (RNF145), transcript variant 1, mRNA.	213						integral to membrane	zinc ion binding			endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GCGAGAAGGCCATATACCTCC	0.383000														26			16		0	0	1	0	0
AP1B1	162	broad.mit.edu	37	22	29755866	29755866	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:29755866A>G	uc003afj.3	-	3	413	c.226T>C	c.(226-228)Tac>Cac	p.Y76H	AP1B1_uc003afl.3_Missense_Mutation_p.Y76H|AP1B1_uc003afi.3_Missense_Mutation_p.Y76H	NM_001127	NP_001118	Q10567	AP1B1_HUMAN	Homo sapiens adaptor-related protein complex 1, beta 1 subunit (AP1B1), transcript variant 1, mRNA.	76					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	Golgi membrane|clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|lysosomal membrane	protein binding|protein transporter activity			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						CTCTTGGCGTAATTCATCAAG	0.527000											OREG0026449	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		67			6		0	0	1	0	0
GPR179	440435	broad.mit.edu	37	17	36490664	36490664	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:36490664C>T	uc002hpz.3	-	7	1728	c.1707G>A	c.(1705-1707)tcG>tcA	p.S569S		NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN	Homo sapiens G protein-coupled receptor 179 (GPR179), mRNA.	569						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				CATGGAAGGCCGAGAGCACAG	0.642000														9			7		0	0	1	0	0
ADCY4	196883	broad.mit.edu	37	14	24798711	24798711	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:24798711C>T	uc001wow.3	-	8	1665	c.1246G>A	c.(1246-1248)Gcc>Acc	p.A416T	ADCY4_uc010toh.2_Missense_Mutation_p.A102T|ADCY4_uc001wox.3_Missense_Mutation_p.A416T|ADCY4_uc001woy.3_Missense_Mutation_p.A416T	NM_001198568	NP_001185497	Q8NFM4	ADCY4_HUMAN	Homo sapiens adenylate cyclase 4 (ADCY4), transcript variant 3, mRNA.	416					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	ATP binding|adenylate cyclase activity|metal ion binding|protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		GCCAGCAGGGCCAGGGTAGCC	0.627000														24			19		0	0	1	0	0
GNPNAT1	64841	broad.mit.edu	37	14	53251269	53251269	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:53251269G>A	uc001xab.3	-	1	355	c.100C>T	c.(100-102)Cat>Tat	p.H34Y		NM_198066	NP_932332	Q96EK6	GNA1_HUMAN	Homo sapiens glucosamine-phosphate N-acetyltransferase 1 (GNPNAT1), mRNA.	34					UDP-N-acetylglucosamine biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|cytosol|endosome membrane	glucosamine 6-phosphate N-acetyltransferase activity			liver(1)|lung(1)|prostate(1)|skin(1)	4	Breast(41;0.176)					TCTCCAGGATGTGTTGGGGAA	0.403000														35			17		0	0	1	0	0
EPHA5	2044	broad.mit.edu	37	4	66201670	66201670	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:66201670C>T	uc003hcy.3	-	15	3025	c.2832G>A	c.(2830-2832)acG>acA	p.T944T	EPHA5_uc003hcx.3_Silent_p.T876T|EPHA5_uc003hcz.3_Silent_p.T922T|EPHA5_uc011cah.2_Silent_p.T945T|EPHA5_uc011cai.2_Silent_p.T923T|EPHA5_uc003hda.2_Silent_p.T945T	NM_004439	NP_004430	P54756	EPHA5_HUMAN	Homo sapiens EPH receptor A5 (EPHA5), transcript variant 1, mRNA.	944					cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						CATTAACCAGCGTCTTCAGAC	0.413000										TSP Lung(17;0.13)				49			20		0	0	1	0	0
BCAS3	54828	broad.mit.edu	37	17	58952033	58952033	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:58952033G>A	uc002iyv.4	+	8	704	c.595G>A	c.(595-597)Gta>Ata	p.V199I	BCAS3_uc010wow.1_Intron|BCAS3_uc002iyu.4_Missense_Mutation_p.V199I|BCAS3_uc002iyw.4_Missense_Mutation_p.V195I	NM_001099432	NP_001092902	Q9H6U6	BCAS3_HUMAN	Homo sapiens breast carcinoma amplified sequence 3 (BCAS3), transcript variant 1, mRNA.	199				VV -> II (in Ref. 2; BAB15156).		nucleus				NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			GATCCTTGTCGTAGTCTTGCA	0.323000														35			23		0	0	1	0	0
DDX43	55510	broad.mit.edu	37	6	74123458	74123458	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:74123458G>T	uc003pgw.3	+	11	1790	c.1446G>T	c.(1444-1446)caG>caT	p.Q482H		NM_018665	NP_061135	Q9NXZ2	DDX43_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 43 (DDX43), mRNA.	482	Helicase C-terminal.					intracellular	ATP binding|ATP-dependent RNA helicase activity|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						CTTTTCTACAGAGTATGTCAT	0.343000														47			28		6.38683e-12	7.84313e-12	1	1	0
FSTL4	23105	broad.mit.edu	37	5	132537633	132537633	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:132537633G>A	uc003kyn.1	-	14	2036	c.1818C>T	c.(1816-1818)aaC>aaT	p.N606N	FSTL4_uc003kym.1_Silent_p.N255N	NM_015082	NP_055897	Q6MZW2	FSTL4_HUMAN	Homo sapiens follistatin-like 4 (FSTL4), mRNA.	606						extracellular region	calcium ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ACCTGATGTGGTTGATGATGA	0.572000														59			39		0	0	1	0	0
NLRP1	22861	broad.mit.edu	37	17	5461726	5461726	+	Missense_Mutation	SNP	C	T	T	rs140677797		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:5461726C>T	uc002gci.3	-	3	2845	c.2290G>A	c.(2290-2292)Gtg>Atg	p.V764M	NLRP1_uc002gcg.1_Missense_Mutation_p.V764M|NLRP1_uc002gch.4_Missense_Mutation_p.V764M|NLRP1_uc002gck.3_Missense_Mutation_p.V764M|NLRP1_uc002gcj.3_Missense_Mutation_p.V764M|NLRP1_uc002gcl.3_Missense_Mutation_p.V764M|NLRP1_uc010clh.3_Missense_Mutation_p.V764M	NM_033004	NP_127497	Q9C000	NALP1_HUMAN	Homo sapiens NLR family, pyrin domain containing 1 (NLRP1), transcript variant 1, mRNA.	764					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	NALP1 inflammasome complex|cytoplasm|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				AGCTTCTTCACGTGGCGGCTG	0.512000														70			8		0	0	1	0	0
DDX21	9188	broad.mit.edu	37	10	70723131	70723131	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:70723131G>A	uc001jov.1	+	3	782	c.692G>A	c.(691-693)cGg>cAg	p.R231Q	DDX21_uc001jow.1_Missense_Mutation_p.R163Q	NM_004728	NP_004719	Q9NR30	DDX21_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 21 (DDX21), mRNA.	231	Helicase ATP-binding.					nucleolus	ATP binding|ATP-dependent RNA helicase activity|RNA binding|protein binding	p.A230G(1)		breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	20						GCACAGGCACGGACAGGAACT	0.473000														56			33		0	0	1	0	0
DDX19B	11269	broad.mit.edu	37	16	70395365	70395365	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:70395365G>A	uc002eys.3	+	4	470	c.341G>A	c.(340-342)cGa>cAa	p.R114Q	DDX19B_uc010cfq.1_5'UTR|DDX19B_uc010cfs.3_5'UTR|DDX19B_uc010vlz.2_Intron|DDX19B_uc002eyv.3_Missense_Mutation_p.R113Q|DDX19B_uc010cfr.3_5'UTR|DDX19B_uc010vma.2_Missense_Mutation_p.R23Q	NM_007242	NP_009173	Q9UMR2	DD19B_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-As) box polypeptide 19B (DDX19B), transcript variant 1, mRNA.	114					mRNA export from nucleus|protein transport|transmembrane transport	cytoplasm|nuclear membrane|nuclear pore	ATP binding|ATP-dependent helicase activity|RNA binding|protein binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)	9		Ovarian(137;0.0694)				GGCTTCAATCGACCCTCCAAG	0.478000														27			32		0	0	1	0	0
LSAMP	4045	broad.mit.edu	37	3	115561378	115561378	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:115561378G>A	uc011bis.2	-	4	1204	c.697C>T	c.(697-699)Cga>Tga	p.R233*	LSAMP_uc003ebs.3_Nonsense_Mutation_p.R233*	NM_002338	NP_002329	Q13449	LSAMP_HUMAN	Homo sapiens limbic system-associated membrane protein (LSAMP), mRNA.	233	Ig-like C2-type 3.				cell adhesion|nervous system development	anchored to membrane|plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(4)|lung(14)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)		GAAGCTTGTCGTCCTGTGGTG	0.517000														25			11		0	0	1	0	0
MAEL	84944	broad.mit.edu	37	1	166958631	166958631	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:166958631C>T	uc001gdy.1	+	0	113	c.42C>T	c.(40-42)ttC>ttT	p.F14F	MAEL_uc021peh.1_Intron|MAEL_uc001gdz.1_Silent_p.F14F|MAEL_uc009wvf.1_5'Flank	NM_032858	NP_116247	Q96JY0	MAEL_HUMAN	Homo sapiens maelstrom homolog (Drosophila) (MAEL), mRNA.	14					DNA methylation involved in gamete generation|cell differentiation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						ACTATTTCTTCGTGCAGGAGA	0.617000														4			3		0	0	1	0	0
FBXO10	26267	broad.mit.edu	37	9	37512652	37512652	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:37512652G>T	uc004aac.3	-	10	2891	c.2811C>A	c.(2809-2811)ccC>ccA	p.P937P	FBXO10_uc004aab.3_Silent_p.P921P|FBXO10_uc004aad.3_Silent_p.P471P	NM_012166	NP_036298	Q9UK96	FBX10_HUMAN	Homo sapiens F-box protein 10 (FBXO10), mRNA.	921						ubiquitin ligase complex	ubiquitin-protein ligase activity			breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34				GBM - Glioblastoma multiforme(29;0.0107)		GGGCTGCCGAGGGACGTCTGA	0.577000														79			8		1.06961e-07	1.2399e-07	1	1	0
BUB1B	701	broad.mit.edu	37	15	40457360	40457360	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:40457360G>A	uc001zkx.4	+	1	354	c.142G>A	c.(142-144)Gaa>Aaa	p.E48K		NM_001211	NP_001202	O60566	BUB1B_HUMAN	Homo sapiens budding uninhibited by benzimidazoles 1 homolog beta (yeast) (BUB1B), mRNA.	48					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization	anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		ACTGGCACAAGAATCTGCCTG	0.473000			"""Mis, N, F, S"""			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome					61			26		0	0	1	0	0
CCR4	1233	broad.mit.edu	37	3	32995243	32995243	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:32995243G>A	uc003cfg.1	+	1	497	c.329G>A	c.(328-330)tGc>tAc	p.C110Y	CCR4_uc021wuw.1_Missense_Mutation_p.C110Y	NM_005508	NP_005499	P51679	CCR4_HUMAN	Homo sapiens chemokine (C-C motif) receptor 4 (CCR4), mRNA.	110					chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response	integral to plasma membrane				NS(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)|stomach(1)	16						CTAGGTCTGTGCAAGATGATT	0.488000														133			95		0	0	1	0	0
CLCNKA	1187	broad.mit.edu	37	1	16359021	16359021	+	Splice_Site	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:16359021G>T	uc001axu.3	+	18	2009	c.1929_splice	c.e18+1	p.Q643_splice	CLCNKA_uc001axt.3_Splice_Site|CLCNKA_uc010obw.2_Splice_Site_p.Q600_splice|CLCNKA_uc001axv.3_Splice_Site_p.Q642_splice|CLCNKA_uc021ogl.1_Intron	NM_004070	NP_004061	P51800	CLCKA_HUMAN	Homo sapiens chloride channel Ka (CLCNKA), transcript variant 1, mRNA.	643	CBS 2.				excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	CCTTGCACCAGGTAACAAGTA	0.642000											OREG0013132	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		84			16		8.60227e-14	1.07332e-13	1	1	0
PARP9	83666	broad.mit.edu	37	3	122259582	122259582	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:122259582C>A	uc010hri.3	-	7	1752	c.1607G>T	c.(1606-1608)aGa>aTa	p.R536I	PARP9_uc003eff.4_Missense_Mutation_p.R501I|PARP9_uc011bjs.2_Missense_Mutation_p.R501I|PARP9_uc003efg.3_Missense_Mutation_p.R81I|PARP9_uc003efi.3_Missense_Mutation_p.R501I|PARP9_uc003efh.3_Missense_Mutation_p.R536I|PARP9_uc003efj.2_Missense_Mutation_p.R501I	NM_001146102	NP_113646	Q8IXQ6	PARP9_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 9 (PARP9), transcript variant 2, mRNA.	536					cell migration	cytosol|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding			endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	34				GBM - Glioblastoma multiforme(114;0.0519)		ACTCAGGATTCTTTGGATCCA	0.433000														74			54		6.176e-18	7.8979e-18	1	1	0
NUP210L	91181	broad.mit.edu	37	1	154127368	154127368	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:154127368C>T	uc001fdw.3	-	0	225	c.153G>A	c.(151-153)gaG>gaA	p.E51E	NUP210L_uc010peh.2_Silent_p.E51E	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	Homo sapiens nucleoporin 210kDa-like (NUP210L), transcript variant 1, mRNA.	51						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			CCCGGCCTGGCTCTCGGCCGA	0.587000														31			20		0	0	1	0	0
MYO10	4651	broad.mit.edu	37	5	16702672	16702672	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:16702672C>T	uc003jft.4	-	23	3004	c.2536G>A	c.(2536-2538)Gcc>Acc	p.A846T	MYO10_uc011cnc.2_5'Flank|MYO10_uc011cnd.2_Missense_Mutation_p.A203T|MYO10_uc011cne.2_Missense_Mutation_p.A203T|MYO10_uc010itx.3_Missense_Mutation_p.A469T	NM_012334	NP_036466	Q9HD67	MYO10_HUMAN	Homo sapiens myosin X (MYO10), mRNA.	846					axon guidance|signal transduction	myosin complex	ATP binding|actin binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						CGGAGCTCGGCTTCTCTTCGC	0.423000														7			3		0	0	1	0	0
BZRAP1	9256	broad.mit.edu	37	17	56400738	56400738	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:56400738G>A	uc002ivx.4	-	6	1896	c.1025C>T	c.(1024-1026)tCg>tTg	p.S342L	BZRAP1_uc010dcs.3_Missense_Mutation_p.S282L|BZRAP1_uc010wnt.2_Missense_Mutation_p.S342L|LOC100506779_uc021uan.1_5'Flank	NM_004758	NP_004749	O95153	RIMB1_HUMAN	Homo sapiens benzodiazapine receptor (peripheral) associated protein 1 (BZRAP1), transcript variant 1, mRNA.	342						mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GCTGAGCTCCGATTCCTGAGG	0.587000														98			71		0	0	1	0	0
SAMD15	161394	broad.mit.edu	37	14	77844099	77844099	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:77844099G>T	uc001xtq.1	+	0	338	c.338G>T	c.(337-339)aGa>aTa	p.R113I	TMED8_uc001xto.1_5'Flank|SAMD15_uc021rwt.1_Missense_Mutation_p.R113I	NM_001010860	NP_001010860	Q9P1V8	SAM15_HUMAN	Homo sapiens sterile alpha motif domain containing 15 (SAMD15), mRNA.	113										breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GAAACATCCAGAGAGATGGGA	0.493000														155			11		0.000978159	0.00103832	1	1	0
FBL	2091	broad.mit.edu	37	19	40327309	40327309	+	Splice_Site	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:40327309C>T	uc002omn.3	-	7	797	c.683_splice	c.e7-1	p.A228_splice	DYRK1B_uc002omi.3_5'Flank|DYRK1B_uc002omj.3_5'Flank|DYRK1B_uc002omk.3_5'Flank|DYRK1B_uc002oml.3_5'Flank|FBL_uc002omm.1_Splice_Site_p.A142_splice|FBL_uc002omo.2_Splice_Site_p.A227_splice	NM_001436	NP_001427	P22087	FBRL_HUMAN	Homo sapiens fibrillarin (FBL), mRNA.	228					rRNA processing|tRNA processing	Cajal body|box C/D snoRNP complex	RNA binding|methyltransferase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)	9	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)	Renal(1328;0.000518)|Hepatocellular(1079;0.0893)	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)	GBM - Glioblastoma multiforme(1328;0.000826)|STAD - Stomach adenocarcinoma(1328;0.138)		TCCACCATTGCTAAGGAGAAA	0.547000														23			14		0	0	1	0	0
IGFN1	91156	broad.mit.edu	37	1	201183408	201183408	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:201183408C>A	uc001gwc.3	+	12	8962	c.8832C>A	c.(8830-8832)acC>acA	p.T2944T	IGFN1_uc001gwb.3_Non-coding_Transcript	NM_001164586	NP_001158058			Homo sapiens immunoglobulin-like and fibronectin type III domain containing 1 (IGFN1), mRNA.											autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						GACCTGGCACCTGGTTTAAGG	0.612000														48			5		0.00198382	0.00208369	1	1	0
STXBP5	134957	broad.mit.edu	37	6	147703945	147703945	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:147703945G>A	uc003qlz.3	+	26	3400	c.3225G>A	c.(3223-3225)agG>agA	p.R1075R	STXBP5_uc010khz.2_Silent_p.R1039R|STXBP5_uc003qly.3_Silent_p.R730R	NM_001127715	NP_001121187	Q5T5C0	STXB5_HUMAN	Homo sapiens syntaxin binding protein 5 (tomosyn) (STXBP5), transcript variant 2, mRNA.	1075					exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		AGGCTTCAAGGAGCCTTGCAC	0.443000														114			67		0	0	1	0	0
MLL	4297	broad.mit.edu	37	11	118392771	118392771	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:118392771C>T	uc001pta.3	+	35	11817	c.11794C>T	c.(11794-11796)Cgt>Tgt	p.R3932C	MLL_uc001ptb.3_Missense_Mutation_p.R3935C	NM_005933	NP_005924	Q03164	MLL1_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) (MLL), transcript variant 2, mRNA.	3932	SET.				apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			breast(5)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(29)|lung(34)|ovary(6)|pancreas(3)|prostate(8)|skin(6)|urinary_tract(19)	131	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		CTTTGCCATGCGTAAGATCTA	0.493000			"""T, O"""	"""MLL, MLLT1, MLLT2, MLLT3, MLLT4, MLLT7, MLLT10, MLLT6, ELL, EPS15, AF1Q, CREBBP, SH3GL1, FNBP1, PNUTL1, MSF, GPHN, GMPS, SSH3BP1, ARHGEF12, GAS7, FOXO3A, LAF4, LCX, SEPT6, LPP, CBFA2T1, GRAF, EP300, PICALM, HEAB"""	"""AML, ALL"""									45			33		0	0	1	0	0
ZNF33A	7581	broad.mit.edu	37	10	38306250	38306250	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:38306250C>A	uc010qev.2	+	2	311	c.207C>A	c.(205-207)ttC>ttA	p.F69L	ZNF33A_uc001izg.3_Missense_Mutation_p.F62L|ZNF33A_uc001izh.3_Missense_Mutation_p.F62L|ZNF33A_uc001izi.1_Missense_Mutation_p.F62L|ZNF33A_uc021ppe.1_Missense_Mutation_p.F62L|ZNF33A_uc001izj.3_Non-coding_Transcript	NM_006974	NP_008905	Q06730	ZN33A_HUMAN	Homo sapiens zinc finger protein 33A (ZNF33A), transcript variant 2, mRNA.	62	KRAB.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E68*(1)		cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						AGGTGATCTTCAGGCTGCAAC	0.443000														122			8		3.09899e-07	3.55757e-07	1	1	0
MTHFD2	10797	broad.mit.edu	37	2	74432916	74432916	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:74432916C>A	uc002skk.3	+	1	265	c.186C>A	c.(184-186)gcC>gcA	p.A62A	MTHFD2_uc002skj.3_5'UTR|MTHFD2_uc010yro.2_Intron|MTHFD2_uc010yrp.2_Intron	NM_006636	NP_006627	P13995	MTDC_HUMAN	Homo sapiens methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase (MTHFD2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	62					folic acid-containing compound biosynthetic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	magnesium ion binding|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NAD+) activity|methylenetetrahydrofolate dehydrogenase (NADP+) activity|phosphate binding|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6					NADH(DB00157)|Tetrahydrofolic acid(DB00116)	AGTGGGTGGCCTCAGGCAACA	0.537000														32			14		4.3838e-07	5.01911e-07	1	1	0
KRTAP10-10	353333	broad.mit.edu	37	21	46057875	46057875	+	Missense_Mutation	SNP	G	A	A	rs147625145	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:46057875G>A	uc002zfq.3	+	0	603	c.541G>A	c.(541-543)Gcc>Acc	p.A181T	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_181688	NP_859016	P60014	KR10A_HUMAN	Homo sapiens keratin associated protein 10-10 (KRTAP10-10), mRNA.	181	15 X 5 AA repeats of C-C-X(3).					keratin filament				NS(1)|endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	13						TTGCTGCACCGCCTCCTGCTG	0.642000														101			58		0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105409750	105409750	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:105409750G>A	uc010axc.1	-	6	12158	c.12038C>T	c.(12037-12039)gCc>gTc	p.A4013V	AHNAK2_uc021sen.1_5'Flank|AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.A3913V	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	4013						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GAGGTCAGTGGCCTTGAGGTC	0.662000														83			71		0	0	1	0	0
FTL	2512	broad.mit.edu	37	19	49469891	49469891	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:49469891A>G	uc002plo.3	+	3	626	c.427A>G	c.(427-429)Aag>Gag	p.K143E	FTL_uc002pln.1_3'UTR	NM_000146	NP_000137	P02792	FRIL_HUMAN	Homo sapiens ferritin, light polypeptide (FTL), mRNA.	143	Ferritin-like diiron.				cell death|cellular iron ion homeostasis|cellular membrane organization|iron ion transport|post-Golgi vesicle-mediated transport	cytosol|intracellular ferritin complex	ferric iron binding|identical protein binding|oxidoreductase activity			cervix(1)|kidney(3)|lung(5)	9		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000152)|all cancers(93;0.000435)|GBM - Glioblastoma multiforme(486;0.0171)|Epithelial(262;0.0267)	Iron Dextran(DB00893)	GAAGCTTATCAAGAAGATGGG	0.532000														190			10		0	0	1	0	0
SRP72	6731	broad.mit.edu	37	4	57344544	57344544	+	Splice_Site	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:57344544G>T	uc003hbv.3	+	7	683	c.643_splice	c.e7-1	p.D215_splice	SRP72_uc010ihe.3_Intron	NM_006947	NP_008878	O76094	SRP72_HUMAN	Homo sapiens signal recognition particle 72kDa (SRP72), mRNA.	215					SRP-dependent cotranslational protein targeting to membrane|response to drug	cytosol|nucleolus|plasma membrane|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|signal recognition particle binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(7)|ovary(2)	22	Glioma(25;0.08)|all_neural(26;0.101)					CTTTCTCTTAGGATGGGACTG	0.413000														57			6		0.0215528	0.0220531	1	1	0
RWDD2B	10069	broad.mit.edu	37	21	30380627	30380627	+	Splice_Site	SNP	G	A	A	rs149192196		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:30380627G>A	uc002yms.3	-	3	382	c.295_splice	c.e3-1	p.A99_splice		NM_016940	NP_058636	P57060	RWD2B_HUMAN	Homo sapiens RWD domain containing 2B (RWDD2B), mRNA.	99	RWD.									endometrium(1)|kidney(1)|large_intestine(8)|lung(2)	12						AGAAAACATCGCCTGATTAAA	0.398000														35			40		0	0	1	0	0
B3GNT5	84002	broad.mit.edu	37	3	182988710	182988710	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:182988710C>A	uc003flm.3	+	1	1647	c.1124C>A	c.(1123-1125)gCt>gAt	p.A375D	MCF2L2_uc003fli.1_Intron|MCF2L2_uc003flj.1_Intron|MCF2L2_uc011bqr.1_Intron|B3GNT5_uc003flk.3_Missense_Mutation_p.A375D|B3GNT5_uc003fll.3_Missense_Mutation_p.A375D|B3GNT5_uc021xic.1_Missense_Mutation_p.A375D	NM_032047	NP_114436	Q9BYG0	B3GN5_HUMAN	Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5 (B3GNT5), mRNA.	375					central nervous system development|glycolipid biosynthetic process|protein glycosylation	Golgi membrane|integral to membrane	beta-galactosyl-N-acetylglucosaminylgalactosylglucosyl-ceramide beta-1,3-acetylglucosaminyltransferase activity|galactosyltransferase activity			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8	all_cancers(143;8.52e-13)|Ovarian(172;0.0355)		all cancers(12;4.52e-44)|Epithelial(37;8.82e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			CCTTGTAGGGCTGCGTTTATC	0.333000														63			12		9.31168e-06	1.03939e-05	1	1	0
SCN11A	11280	broad.mit.edu	37	3	38908884	38908884	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:38908884G>T	uc021wvy.1	-	22	4078	c.3879C>A	c.(3877-3879)atC>atA	p.I1293I		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	1293					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	ATGAGCCAAAGATGATAAAGA	0.343000														87			7		0.000157383	0.000170012	1	1	0
IER3	8870	broad.mit.edu	37	6	30711721	30711721	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:30711721C>T	uc003nrn.3	-	1	495	c.463G>A	c.(463-465)Gcc>Acc	p.A155T	FLOT1_uc003nrm.3_5'Flank|FLOT1_uc011dmr.2_5'Flank	NM_003897	NP_003888	P46695	IEX1_HUMAN	Homo sapiens immediate early response 3 (IER3), mRNA.	155					anatomical structure morphogenesis|anti-apoptosis|apoptosis	integral to membrane	protein binding			NS(1)	1						AGTTAGAAGGCGGCCGGGTGT	0.592000														32			14		0	0	1	0	0
APTX	54840	broad.mit.edu	37	9	32973503	32973503	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:32973503G>A	uc003zry.3	-	7	1101	c.1064C>T	c.(1063-1065)aCa>aTa	p.T355I	APTX_uc022bfi.1_Missense_Mutation_p.T341I|APTX_uc003zrm.3_Missense_Mutation_p.T341I|APTX_uc003zrj.3_Missense_Mutation_p.T253I|APTX_uc003zrl.3_Missense_Mutation_p.T162I|APTX_uc011lns.2_Missense_Mutation_p.T162I|APTX_uc003zrn.3_Missense_Mutation_p.T253I|APTX_uc003zro.3_Missense_Mutation_p.T341I|APTX_uc003zrp.3_Missense_Mutation_p.T253I|APTX_uc003zrr.3_Missense_Mutation_p.T287I|APTX_uc003zrq.3_Missense_Mutation_p.T253I|APTX_uc003zrs.3_Missense_Mutation_p.T341I|APTX_uc003zsb.2_Missense_Mutation_p.T162I|APTX_uc003zru.3_Missense_Mutation_p.T301I|APTX_uc022bfj.1_3'UTR|APTX_uc003zrx.3_3'UTR|APTX_uc003zrw.3_Missense_Mutation_p.T283I|APTX_uc003zrv.3_3'UTR|APTX_uc003zrt.3_Missense_Mutation_p.T253I	NM_001195248	NP_001182177	Q7Z2E3	APTX_HUMAN	Homo sapiens aprataxin (APTX), transcript variant 6, mRNA.	355					cell death|double-strand break repair|regulation of protein stability|response to hydrogen peroxide|single strand break repair	chromatin|nucleolus|nucleoplasm	DNA 5'-adenosine monophosphate hydrolase activity|chromatin binding|damaged DNA binding|double-stranded DNA binding|double-stranded RNA binding|phosphoglycolate phosphatase activity|phosphoprotein binding|polynucleotide 3'-phosphatase activity|protein N-terminus binding|zinc ion binding			endometrium(1)|lung(1)|ovary(2)|prostate(2)	6			LUSC - Lung squamous cell carcinoma(29;0.0302)	GBM - Glioblastoma multiforme(74;0.105)		GAATCACTGTGTCCAGTGCTT	0.542000								Editing and processing nucleases						35			7		0	0	1	0	0
LOC646813	646813	broad.mit.edu	37	11	50378129	50378129	+	RNA	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:50378129G>T	uc001nhe.2	+	4		c.759G>T			LOC646813_uc001nhf.1_Non-coding_Transcript|LOC646813_uc001nhg.1_Non-coding_Transcript|LOC646813_uc001nhh.1_Non-coding_Transcript|LOC646813_uc010rib.1_Non-coding_Transcript					Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 9 pseudogene (LOC646813), non-coding RNA.																		ACAAGAAGAAGAAGGATAAGG	0.403000														49			12		2.68362e-12	3.30521e-12	1	1	0
PDE10A	10846	broad.mit.edu	37	6	165749631	165749631	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:165749631G>A	uc003qun.3	-	21	2463	c.2218C>T	c.(2218-2220)Cct>Tct	p.P740S	PDE10A_uc011egj.2_Non-coding_Transcript|PDE10A_uc011egk.2_Missense_Mutation_p.P670S|PDE10A_uc003quo.3_Missense_Mutation_p.P750S	NM_006661	NP_006652	Q9Y233	PDE10_HUMAN	RecName: Full=cAMP and cAMP-inhibited cGMP 3',5'-cyclic phosphodiesterase 10A;          EC=3.1.4.17;          EC=3.1.4.35;	740					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	TTCAGAAGAGGCTCCGTGGGA	0.468000														21			16		0	0	1	0	0
IGSF11	152404	broad.mit.edu	37	3	118649028	118649028	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:118649028G>A	uc003ebw.3	-	1	394	c.147C>T	c.(145-147)agC>agT	p.S49S	IGSF11_uc011biv.2_Silent_p.S49S|IGSF11_uc003ebx.3_Silent_p.S49S|IGSF11_uc003eby.3_Silent_p.S48S|IGSF11_uc003ebz.3_Silent_p.S48S|IGSF11_uc010hqs.3_Silent_p.S48S	NM_001015887	NP_001015887	Q5DX21	IGS11_HUMAN	Homo sapiens immunoglobulin superfamily, member 11 (IGSF11), transcript variant 2, mRNA.	49	Ig-like V-type.				cell adhesion|regulation of growth	integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TGAGGGCAGCGCTGGTAGTGA	0.542000														63			36		0	0	1	0	0
ITPR2	3709	broad.mit.edu	37	12	26580872	26580872	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:26580872T>C	uc001rhg.3	-	48	7336	c.6919A>G	c.(6919-6921)Aca>Gca	p.T2307A	ITPR2_uc009zjg.1_Missense_Mutation_p.T458A	NM_002223	NP_002214	Q14571	ITPR2_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 2 (ITPR2), mRNA.	2307					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					AGTATTAATGTAGGCCCAAGA	0.333000														33			18		0	0	1	0	0
TLE2	7089	broad.mit.edu	37	19	3005496	3005496	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:3005496G>A	uc010dth.3	-	16	2101	c.1838C>T	c.(1837-1839)aCg>aTg	p.T613M	TLE2_uc010xhb.2_Missense_Mutation_p.T279M|TLE2_uc002lww.3_Missense_Mutation_p.T612M|TLE2_uc010xhc.2_Missense_Mutation_p.T490M|TLE2_uc010dti.3_Missense_Mutation_p.T626M	NM_003260	NP_003251	Q04725	TLE2_HUMAN	Homo sapiens transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila) (TLE2), transcript variant 1, mRNA.	612					Wnt receptor signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent	nucleus	protein binding|transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCAGCGCACCGTGTTGTCCAG	0.642000														8			10		0	0	1	0	0
ZNF275	10838	broad.mit.edu	37	X	152612497	152612497	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:152612497G>A	uc011myn.2	+	1	1067	c.165G>A	c.(163-165)caG>caA	p.Q55Q	ZNF275_uc004fhg.2_Silent_p.Q118Q|ZNF275_uc022cht.1_Silent_p.Q55Q|ZNF275_uc022chu.1_5'Flank	NM_001080485	NP_001073954	A6NFS0	A6NFS0_HUMAN	Homo sapiens zinc finger protein 275 (ZNF275), mRNA.	118						intracellular	nucleic acid binding|zinc ion binding			endometrium(5)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGCTTGTCCAGCACCAGAGAG	0.542000														28			21		0	0	1	0	0
ZP1	22917	broad.mit.edu	37	11	60641122	60641122	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:60641122C>T	uc001nqd.3	+	8	1466	c.1446C>T	c.(1444-1446)ggC>ggT	p.G482G	ZP1_uc001nqe.3_Silent_p.G189G	NM_207341	NP_997224	P60852	ZP1_HUMAN	Homo sapiens zona pellucida glycoprotein 1 (sperm receptor) (ZP1), mRNA.	482	ZP.				single fertilization	integral to membrane|plasma membrane|proteinaceous extracellular matrix				breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						CTTTCAAGGGCGACAGCTACA	0.582000														65			34		0	0	1	0	0
DHX9	1660	broad.mit.edu	37	1	182827295	182827295	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:182827295C>A	uc001gpr.3	+	7	905	c.730C>A	c.(730-732)Ctg>Atg	p.L244M	DHX9_uc001gps.3_Missense_Mutation_p.L30M	NM_001357	NP_001348	Q08211	DHX9_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 9 (DHX9), transcript variant 1, mRNA.	244	DRBM 2.|Interaction with BRCA1.|Interaction with CREBBP.				CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	CRD-mediated mRNA stability complex|centrosome|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						GTCCTGTGCCCTGTCACTTGT	0.408000														62			27		6.32553e-13	7.83728e-13	1	1	0
TIPRL	261726	broad.mit.edu	37	1	168160619	168160619	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:168160619A>C	uc001gfg.3	+	3	542	c.397A>C	c.(397-399)Aca>Cca	p.T133P	TIPRL_uc001gff.3_Missense_Mutation_p.T133P	NM_152902	NP_690866	O75663	TIPRL_HUMAN	Homo sapiens TIP41, TOR signaling pathway regulator-like (S. cerevisiae) (TIPRL), transcript variant 1, mRNA.	133					DNA damage checkpoint|negative regulation of protein phosphatase type 2A activity	cytoplasm	protein binding			breast(1)|kidney(1)|large_intestine(1)|ovary(2)|skin(1)	6	all_hematologic(923;0.215)					TGTACCTACAACAGATCATAT	0.328000														119			14		0	0	1	0	0
MAP2K2	5605	broad.mit.edu	37	19	4110573	4110573	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:4110573C>T	uc002lzk.3	-	2	638	c.384G>A	c.(382-384)ccG>ccA	p.P128P		NM_030662	NP_109587	P36507	MP2K2_HUMAN	Homo sapiens mitogen-activated protein kinase kinase 2 (MAP2K2), mRNA.	128	Protein kinase.				ERK1 and ERK2 cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Ras protein signal transduction|Toll signaling pathway|activation of MAPK activity|activation of MAPKK activity|axon guidance|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|extracellular region	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity						Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		CCACGATGTACGGCGAGTTGC	0.622000														23			19		0	0	1	0	0
ZNF629	23361	broad.mit.edu	37	16	30794000	30794000	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:30794000C>T	uc002dzs.1	-	2	1857	c.1649G>A	c.(1648-1650)aGc>aAc	p.S550N		NM_001080417	NP_001073886	Q9UEG4	ZN629_HUMAN	Homo sapiens zinc finger protein 629 (ZNF629), mRNA.	550					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22			Colorectal(24;0.198)			CCCCAGCAGGCTGTCGCCCTG	0.692000														3			4		0	0	1	0	0
NUP188	23511	broad.mit.edu	37	9	131744902	131744902	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:131744902C>T	uc004bws.1	+	15	1613	c.1591C>T	c.(1591-1593)Cgc>Tgc	p.R531C	NUP188_uc004bwu.3_5'Flank	NM_015354	NP_056169	Q5SRE5	NU188_HUMAN	Homo sapiens nucleoporin 188kDa (NUP188), mRNA.	531					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						ATACCTGGTACGCTGGGAATA	0.463000														41			28		0	0	1	0	0
NELF	26012	broad.mit.edu	37	9	140347587	140347587	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:140347587T>C	uc004cna.3	-	8	1200	c.968A>G	c.(967-969)gAg>gGg	p.E323G	NELF_uc011mex.2_Missense_Mutation_p.E120G|NELF_uc010nci.3_Missense_Mutation_p.E67G|NELF_uc011mey.2_Non-coding_Transcript|NELF_uc004cnb.3_Missense_Mutation_p.E293G|NELF_uc004cmz.3_Missense_Mutation_p.E321G|NELF_uc011mez.2_Missense_Mutation_p.E300G|NELF_uc004cnc.3_Missense_Mutation_p.E298G|NELF_uc022bqi.1_Missense_Mutation_p.E300G	NM_001130969	NP_001124441	Q6X4W1	NELF_HUMAN	Homo sapiens nasal embryonic LHRH factor (NELF), transcript variant 1, mRNA.	323						nucleus|plasma membrane				cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|pancreas(1)|skin(2)	10	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000222)|Epithelial(140;0.000888)		GTCCAGGTCCTCGAAGGCCTC	0.657000														45			4		0	0	1	0	0
VDAC2	7417	broad.mit.edu	37	10	76980698	76980698	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:76980698G>T	uc001jxa.3	+	7	1154	c.599G>T	c.(598-600)aGg>aTg	p.R200M	VDAC2_uc021ptp.1_Missense_Mutation_p.R185M|VDAC2_uc010qld.2_Missense_Mutation_p.R146M|VDAC2_uc001jwz.3_Missense_Mutation_p.R185M|VDAC2_uc010qle.2_Missense_Mutation_p.R146M	NM_001184783	NP_001171712	P45880	VDAC2_HUMAN	Homo sapiens voltage-dependent anion channel 2 (VDAC2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	185						mitochondrial nucleoid|mitochondrial outer membrane|pore complex	nucleotide binding|porin activity|protein binding|voltage-gated anion channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(1)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1)	10	all_cancers(46;0.0642)|all_epithelial(25;0.00604)|Prostate(51;0.0112)|Ovarian(15;0.183)				Dihydroxyaluminium(DB01375)	GTGGGCTACAGGACTGGGGAC	0.453000														34			17		4.7546e-09	5.62729e-09	1	1	0
CEP290	80184	broad.mit.edu	37	12	88500547	88500547	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:88500547G>A	uc001tar.3	-	24	3066	c.2722C>T	c.(2722-2724)Cga>Tga	p.R908*	CEP290_uc001taq.3_5'Flank|CEP290_uc001tat.3_Nonsense_Mutation_p.R701*	NM_025114	NP_079390	O15078	CE290_HUMAN	Homo sapiens centrosomal protein 290kDa (CEP290), mRNA.	908					G2/M transition of mitotic cell cycle|cilium assembly|eye photoreceptor cell development|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding			breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						CTAAGTTGTCGCTCCAATTCT	0.308000														20			10		0	0	1	0	0
LRIT1	26103	broad.mit.edu	37	10	85997350	85997350	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:85997350C>T	uc001kcz.1	-	1	237	c.215G>A	c.(214-216)cGc>cAc	p.R72H		NM_015613	NP_056428	Q9P2V4	LRIT1_HUMAN	Homo sapiens leucine-rich repeat, immunoglobulin-like and transmembrane domains 1 (LRIT1), mRNA.	72						integral to endoplasmic reticulum membrane				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						AGGAACCCTGCGTATGGCCGT	0.697000														27			23		0	0	1	0	0
VSIG1	340547	broad.mit.edu	37	X	107310334	107310334	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:107310334A>C	uc011msk.2	+	3	651	c.490A>C	c.(490-492)Aac>Cac	p.N164H	VSIG1_uc004eno.3_Missense_Mutation_p.N128H	NM_001170553	NP_001164024	Q86XK7	VSIG1_HUMAN	Homo sapiens V-set and immunoglobulin domain containing 1 (VSIG1), transcript variant 1, mRNA.	128	Ig-like C2-type 2.					integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17						TCTCGGCCAAAACCAAGGCAT	0.448000														97			68		0	0	1	0	0
TP73-AS1	57212	broad.mit.edu	37	1	3662560	3662560	+	RNA	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:3662560A>C	uc001akt.4	-	1		c.671T>G			TP73-AS1_uc021ofj.1_Non-coding_Transcript|TP73-AS1_uc021ofk.1_Non-coding_Transcript|TP73-AS1_uc021ofl.1_Non-coding_Transcript|TP73-AS1_uc009vlm.3_Non-coding_Transcript					Homo sapiens TP73 antisense RNA 1 (non-protein coding) (TP73-AS1), transcript variant 5, non-coding RNA.																		CGGGCAGACAAGTCGCTGGTG	0.602000														100			12		0	0	1	0	0
CDC42BPG	55561	broad.mit.edu	37	11	64594754	64594754	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:64594754G>A	uc001obs.4	-	32	4267	c.4267C>T	c.(4267-4269)Cgc>Tgc	p.R1423C		NM_017525	NP_059995	Q6DT37	MRCKG_HUMAN	Homo sapiens CDC42 binding protein kinase gamma (DMPK-like) (CDC42BPG), mRNA.	1423					actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(1)|lung(3)	4						GCGCACCTGCGCTGCTGCTTC	0.677000														63			5		0	0	1	0	0
ZNF676	163223	broad.mit.edu	37	19	22363485	22363485	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:22363485G>A	uc002nqs.1	-	2	1352	c.1034C>T	c.(1033-1035)gCt>gTt	p.A345V		NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN	Homo sapiens zinc finger protein 676 (ZNF676), mRNA.	345					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				TCGATTAAAAGCTTTCCCGCA	0.413000														71			10		0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7696336	7696336	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7696336G>T	uc002giu.1	+	46	7396	c.7382G>T	c.(7381-7383)aGg>aTg	p.R2461M		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	2461	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				ATTGAGAGCAGGGTTGAGAAG	0.498000														40			22		7.88262e-20	1.01582e-19	1	1	0
OR51F1	256892	broad.mit.edu	37	11	4790544	4790544	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:4790544A>C	uc010qyl.2	-	0	604	c.604T>G	c.(604-606)Tta>Gta	p.L202V		NM_001004752	NP_001004752	A6NLW9	A6NLW9_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily F, member 1 (OR51F1), mRNA.	202						integral to membrane	olfactory receptor activity			kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)		AGATCAATTAATCCACAGATG	0.398000														65			63		0	0	1	0	0
ALG6	29929	broad.mit.edu	37	1	63870168	63870168	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:63870168G>A	uc021oof.1	+	4	607	c.302G>A	c.(301-303)cGt>cAt	p.R101H		NM_013339	NP_037471	Q9Y672	ALG6_HUMAN	Homo sapiens asparagine-linked glycosylation 6, alpha-1,3-glucosyltransferase homolog (S. cerevisiae) (ALG6), mRNA.	101					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						CATACATCACGTGGATATGAG	0.348000														88			7		0	0	1	0	0
CSPP1	79848	broad.mit.edu	37	8	67998332	67998332	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:67998332G>A	uc003xxi.3	+	3	429	c.398G>A	c.(397-399)cGt>cAt	p.R133H	CSPP1_uc003xxg.1_Missense_Mutation_p.R133H|CSPP1_uc003xxh.1_Non-coding_Transcript|CSPP1_uc003xxj.3_Missense_Mutation_p.R133H|CSPP1_uc003xxk.3_5'UTR	NM_024790	NP_079066	Q1MSJ5	CSPP1_HUMAN	Homo sapiens centrosome and spindle pole associated protein 1 (CSPP1), mRNA.	133						centrosome|microtubule|spindle				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			GATTACAGACGTTATCTTACT	0.308000														35			34		0	0	1	0	0
TNFRSF4	7293	broad.mit.edu	37	1	1148385	1148385	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:1148385G>A	uc001adf.3	-	1	967	c.369C>T	c.(367-369)taC>taT	p.Y123Y	TNFRSF4_uc001ade.3_Silent_p.Y119Y			P43489	TNR4_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 4 (TNFRSF4), mRNA.	119					T cell proliferation|immune response|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of immunoglobulin secretion	integral to plasma membrane	tumor necrosis factor receptor activity			large_intestine(1)|lung(2)|urinary_tract(1)	4	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.73e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.01e-21)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CTCCAGGCTTGTAGCTGTCCA	0.697000														15			6		0	0	1	0	0
PRAMEF12	390999	broad.mit.edu	37	1	12837158	12837158	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:12837158C>A	uc001aui.3	+	2	895	c.868C>A	c.(868-870)Ctc>Atc	p.L290I		NM_001080830	NP_001074299	O95522	PRA12_HUMAN	Homo sapiens PRAME family member 12 (PRAMEF12), mRNA.	290										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TCCCAGGTGTCTCCAGGCCCC	0.527000														97			63		7.59065e-32	1.00277e-31	1	1	0
CLK3	1198	broad.mit.edu	37	15	74914483	74914483	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:74914483G>A	uc010uln.2	+	3	1297	c.836G>A	c.(835-837)cGc>cAc	p.R279H	CLK3_uc002ayg.4_Missense_Mutation_p.R131H|CLK3_uc002ayh.4_Intron|CLK3_uc010ulm.1_3'UTR|CLK3_uc002ayj.4_Missense_Mutation_p.R131H|CLK3_uc002ayk.4_Missense_Mutation_p.R58H|CLK3_uc002ayl.4_5'Flank	NM_001130028	NP_003983	P49761	CLK3_HUMAN	Homo sapiens CDC-like kinase 3 (CLK3), transcript variant 1, mRNA.	279						acrosomal vesicle|nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)|stomach(2)|urinary_tract(1)	15						AGCAGTAAGCGCAGCAGCCGG	0.562000														28			12		0	0	1	0	0
CNDP1	84735	broad.mit.edu	37	18	72247449	72247449	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:72247449G>A	uc002llq.3	+	9	1462	c.1251G>A	c.(1249-1251)ccG>ccA	p.P417P	CNDP1_uc002lls.3_Silent_p.P220P	NM_032649	NP_116038	Q96KN2	CNDP1_HUMAN	Homo sapiens carnosine dipeptidase 1 (metallopeptidase M20 family) (CNDP1), mRNA.	417					proteolysis	extracellular region	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity	p.H416Q(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)		BRCA - Breast invasive adenocarcinoma(31;0.109)		GACTACACCCGTGGATTGCAA	0.438000														24			11		0	0	1	0	0
UNC13A	23025	broad.mit.edu	37	19	17759323	17759323	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:17759323G>A	uc021uqk.1	-	15	1772	c.1730C>T	c.(1729-1731)gCg>gTg	p.A577V		NM_001080421	NP_001073890	Q9UPW8	UN13A_HUMAN	Homo sapiens unc-13 homolog A (C. elegans) (UNC13A), mRNA.	578					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	p.I576I(1)		breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						GCCCTGCCTCGCGATGCCCCA	0.652000														15			10		0	0	1	0	0
USO1	8615	broad.mit.edu	37	4	76695832	76695832	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:76695832G>A	uc003hiu.3	+	6	581	c.406G>A	c.(406-408)Gtc>Atc	p.V136I	USO1_uc003hiv.3_Missense_Mutation_p.V22I|USO1_uc003hiw.3_Missense_Mutation_p.V22I	NM_003715	NP_003706	O60763	USO1_HUMAN	Homo sapiens USO1 vesicle docking protein homolog (yeast) (USO1), mRNA.	187	Globular head.				intracellular protein transport|vesicle fusion with Golgi apparatus	Golgi membrane|cytosol	protein binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TCTATAGGGCGTCTTACTACT	0.348000														44			6		0	0	1	0	0
TTC23	64927	broad.mit.edu	37	15	99678325	99678325	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:99678325T>C	uc002bur.3	-	12	1765	c.1234A>G	c.(1234-1236)Aag>Gag	p.K412E	TTC23_uc002bus.3_Missense_Mutation_p.K412E|TTC23_uc002but.3_Missense_Mutation_p.K412E|TTC23_uc002buu.3_Missense_Mutation_p.K412E|TTC23_uc002buv.3_Missense_Mutation_p.K412E|TTC23_uc002bux.3_Missense_Mutation_p.K412E|TTC23_uc002buw.3_Missense_Mutation_p.K412E|TTC23_uc010boq.3_Non-coding_Transcript|TTC23_uc002buy.3_Missense_Mutation_p.K412E|TTC23_uc010bor.3_Missense_Mutation_p.K412E	NM_022905	NP_075056	Q5W5X9	TTC23_HUMAN	Homo sapiens tetratricopeptide repeat domain 23 (TTC23), transcript variant 2, mRNA.	412							binding			endometrium(2)|large_intestine(3)|lung(9)|urinary_tract(2)	16	all_cancers(4;1.49e-13)|Lung NSC(78;0.000545)|all_lung(78;0.00121)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		all cancers(5;8.11e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00215)			GAAGCAACCTTGGGGGCCCTG	0.652000														23			15		0	0	1	0	0
CDRT4	284040	broad.mit.edu	37	17	15341382	15341382	+	Missense_Mutation	SNP	C	T	T	rs140524456	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:15341382C>T	uc002gop.2	-	3	445	c.164G>A	c.(163-165)cGt>cAt	p.R55H	CDRT4_uc021tqm.1_Missense_Mutation_p.R55H|FAM18B2_uc010vvx.2_3'UTR|FAM18B2_uc010vvw.2_3'UTR	NM_001204477	NP_001191406	Q8N9R6	CDRT4_HUMAN	Homo sapiens CMT1A duplicated region transcript 4 (CDRT4), mRNA.	55										endometrium(3)|skin(1)	4				UCEC - Uterine corpus endometrioid carcinoma (92;0.0874)		CTCGAGGGCACGCATGCATTC	0.488000														74			6		0	0	1	0	0
HSD17B11	51170	broad.mit.edu	37	4	88258453	88258453	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:88258453A>G	uc003hqp.2	-	6	1111	c.878T>C	c.(877-879)aTt>aCt	p.I293T		NM_016245	NP_057329	Q8NBQ5	DHB11_HUMAN	Homo sapiens hydroxysteroid (17-beta) dehydrogenase 11 (HSD17B11), mRNA.	293					androgen catabolic process|steroid biosynthetic process	cytoplasm|extracellular region	binding|estradiol 17-beta-dehydrogenase activity			cervix(1)|endometrium(4)|kidney(2)|lung(2)|ovary(2)	11		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000339)		TTTATATCCAATAACTGCATC	0.313000														31			16		0	0	1	0	0
HGFAC	3083	broad.mit.edu	37	4	3443842	3443842	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:3443842C>T	uc003ghc.3	+	0	117	c.114C>T	c.(112-114)ggC>ggT	p.G38G	HGFAC_uc010icw.3_Silent_p.G38G	NM_001528	NP_001519	Q04756	HGFA_HUMAN	Homo sapiens HGF activator (HGFAC), mRNA.	38					proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		CCCAGCCTGGCGGGGTGAGCA	0.711000														16			9		0	0	1	0	0
FMO3	2328	broad.mit.edu	37	1	171080085	171080085	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:171080085G>T	uc001ghi.3	+	5	885	c.774G>T	c.(772-774)aaG>aaT	p.K258N	FMO3_uc001ghh.3_Missense_Mutation_p.K258N|FMO3_uc010pmb.2_Missense_Mutation_p.K238N|FMO3_uc010pmc.2_Missense_Mutation_p.K195N	NM_001002294	NP_008825	P31513	FMO3_HUMAN	Homo sapiens flavin containing monooxygenase 3 (FMO3), transcript variant 2, mRNA.	258					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)					TGTACGTGAAGCAGATGAATG	0.448000														108			16		4.14922e-12	5.1026e-12	1	1	0
PPFIBP2	8495	broad.mit.edu	37	11	7673050	7673050	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:7673050C>A	uc001mfj.4	+	22	2799	c.2411C>A	c.(2410-2412)cCa>cAa	p.P804Q	PPFIBP2_uc010rbb.1_Missense_Mutation_p.P727Q|PPFIBP2_uc001mfk.1_Intron|PPFIBP2_uc010rbc.2_Missense_Mutation_p.P738Q|PPFIBP2_uc010rbe.2_Missense_Mutation_p.P692Q|PPFIBP2_uc001mfl.4_Missense_Mutation_p.P661Q|PPFIBP2_uc009yfj.1_Missense_Mutation_p.P448Q	NM_003621	NP_003612	Q8ND30	LIPB2_HUMAN	Homo sapiens PTPRF interacting protein, binding protein 2 (liprin beta 2) (PPFIBP2), mRNA.	804					DNA integration|cell communication	intracellular	DNA binding|integrase activity|protein binding			breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)		GCTTACACACCACTGACCACC	0.612000														32			13		0.000219431	0.000236831	1	1	0
COL24A1	255631	broad.mit.edu	37	1	86355288	86355288	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:86355288C>A	uc001dlj.3	-	31	3006	c.2931G>T	c.(2929-2931)caG>caT	p.Q977H	COL24A1_uc001dli.3_Missense_Mutation_p.Q113H|COL24A1_uc010osf.2_Non-coding_Transcript|COL24A1_uc010osd.2_Missense_Mutation_p.Q277H|COL24A1_uc001dlk.3_Non-coding_Transcript|COL24A1_uc010ose.2_Non-coding_Transcript	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN	Homo sapiens collagen, type XXIV, alpha 1 (COL24A1), mRNA.	977	Collagen-like 8.				cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		CAGGCAATCCCTGTAAACCCT	0.383000														125			12		3.27435e-08	3.82583e-08	1	1	0
MLH3	27030	broad.mit.edu	37	14	75513291	75513291	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:75513291C>A	uc001xrd.1	-	1	3284	c.3068G>T	c.(3067-3069)aGt>aTt	p.S1023I	MLH3_uc001xre.1_Missense_Mutation_p.S1023I|MLH3_uc010tuy.1_Non-coding_Transcript	NM_001040108	NP_001035197	Q9UHC1	MLH3_HUMAN	Homo sapiens mutL homolog 3 (E. coli) (MLH3), transcript variant 1, mRNA.	1023					mismatch repair|reciprocal meiotic recombination	MutLbeta complex|chiasma|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		AGATTCCTCACTCTGAAAACA	0.443000								Mismatch excision repair (MMR)						135			10		3.07112e-06	3.45634e-06	1	1	0
DDX60	55601	broad.mit.edu	37	4	169172246	169172246	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:169172246C>A	uc003irp.3	-	27	4009	c.3717G>T	c.(3715-3717)aaG>aaT	p.K1239N		NM_017631	NP_060101	Q8IY21	DDX60_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 (DDX60), mRNA.	1239	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		GACCAAATACCTTCTGCAAAG	0.294000														30			22		2.70639e-06	3.05106e-06	1	1	0
CENPC1	1060	broad.mit.edu	37	4	68379857	68379857	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:68379857C>T	uc003hdd.1	-	7	1562	c.1379G>A	c.(1378-1380)aGa>aAa	p.R460K	CENPC1_uc010ihj.1_Non-coding_Transcript|CENPC1_uc010ihk.1_Non-coding_Transcript|CENPC1_uc010ihm.1_Missense_Mutation_p.R460K	NM_001812	NP_001803	Q03188	CENPC_HUMAN	Homo sapiens centromere protein C 1 (CENPC1), mRNA.	460					mitotic prometaphase	condensed chromosome kinetochore|condensed nuclear chromosome, centromeric region|cytosol	DNA binding			NS(1)|breast(1)|kidney(5)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	23						TTCCATATTTCTGTCTGAATT	0.358000														12			6		0	0	1	0	0
C6orf221	154288	broad.mit.edu	37	6	74073391	74073391	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:74073391C>T	uc003pgt.4	+	2	515	c.462C>T	c.(460-462)gcC>gcT	p.A154A		NM_001017361	NP_001017361	Q587J8	ECAT1_HUMAN	Homo sapiens chromosome 6 open reading frame 221 (C6orf221), mRNA.	154										NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(2)|stomach(1)	19						TCCGGGAGGCCGGGACCCAGC	0.677000														19			13		0	0	1	0	0
ARNTL2	56938	broad.mit.edu	37	12	27521253	27521253	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:27521253T>C	uc001rht.2	+	1	309	c.90T>C	c.(88-90)agT>agC	p.S30S	ARNTL2_uc001rhu.2_Silent_p.S30S|ARNTL2_uc001rhv.2_Silent_p.S30S|ARNTL2_uc001rhw.3_Silent_p.S41S|ARNTL2_uc010sjp.2_Silent_p.S41S|ARNTL2_uc009zji.2_Silent_p.S30S	NM_020183	NP_064568	Q8WYA1	BMAL2_HUMAN	Homo sapiens aryl hydrocarbon receptor nuclear translocator-like 2 (ARNTL2), transcript variant 1, mRNA.	30					circadian rhythm|entrainment of circadian clock|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	21	Colorectal(261;0.0847)|Lung SC(9;0.184)					GCCGCGTGAGTCCAGGGACAA	0.468000														31			22		0	0	1	0	0
CDCP1	64866	broad.mit.edu	37	3	45134805	45134805	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:45134805G>A	uc003com.3	-	5	1726	c.1591C>T	c.(1591-1593)Cag>Tag	p.Q531*		NM_022842	NP_073753	Q9H5V8	CDCP1_HUMAN	Homo sapiens CUB domain containing protein 1 (CDCP1), transcript variant 1, mRNA.	531	CUB.					extracellular region|integral to membrane|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		GTCAGACCCTGCCTGGAGGCC	0.507000														67			9		0	0	1	0	0
MPZL1	9019	broad.mit.edu	37	1	167757089	167757089	+	Silent	SNP	C	T	T	rs139028868	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:167757089C>T	uc001geo.3	+	5	943	c.741C>T	c.(739-741)tcC>tcT	p.S247S	MPZL1_uc001gep.3_3'UTR|MPZL1_uc001geq.3_Silent_p.S97S|MPZL1_uc009wvh.3_Non-coding_Transcript	NM_003953	NP_003944	O95297	MPZL1_HUMAN	Homo sapiens myelin protein zero-like 1 (MPZL1), transcript variant 1, mRNA.	247					cell-cell signaling|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	protein binding|structural molecule activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(2)	15	all_hematologic(923;0.215)					TAGACCACTCCGGCGGACATC	0.463000														20			18		0	0	1	0	0
CCDC91	55297	broad.mit.edu	37	12	28605515	28605515	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:28605515A>G	uc001riq.3	+	9	1043	c.1029A>G	c.(1027-1029)gaA>gaG	p.E343E	CCDC91_uc001rio.3_Silent_p.E313E|CCDC91_uc009zjk.3_Non-coding_Transcript|CCDC91_uc001rip.1_Silent_p.E343E|CCDC91_uc009zjl.3_Silent_p.E145E	NM_018318	NP_060788	Q7Z6B0	CCD91_HUMAN	Homo sapiens coiled-coil domain containing 91 (CCDC91), mRNA.	343	Homodimerization.				protein transport	Golgi apparatus|membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|skin(1)	22	Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184)					GGAAGACAGAACATGCAAAAG	0.299000														40			16		0	0	1	0	0
PRSS58	136541	broad.mit.edu	37	7	141952105	141952105	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:141952105A>C	uc003vxb.3	-	4	982	c.662T>G	c.(661-663)gTt>gGt	p.V221G	PRSS58_uc003vxc.4_Missense_Mutation_p.V221G	NM_001001317	NP_001001317	Q8IYP2	PRS58_HUMAN	Homo sapiens protease, serine, 58 (PRSS58), mRNA.	221	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						ATAGATGCCAACATCGGCTCT	0.438000														42			10		0	0	1	0	0
MRPL39	54148	broad.mit.edu	37	21	26978878	26978878	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:26978878G>A	uc002yln.3	-	1	177	c.163C>T	c.(163-165)Cag>Tag	p.Q55*	MRPL39_uc002ylo.3_Nonsense_Mutation_p.Q55*	NM_080794	NP_542984	Q9NYK5	RM39_HUMAN	Homo sapiens mitochondrial ribosomal protein L39 (MRPL39), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	55						mitochondrial ribosome	nucleotide binding			endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	10						AATGATAACTGCCTGGCTTTC	0.418000														50			23		0	0	1	0	0
HAVCR1	26762	broad.mit.edu	37	5	156479468	156479468	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:156479468T>G	uc010jij.1	-	3	762	c.577A>C	c.(577-579)Aca>Cca	p.T193P	HAVCR1_uc011ddl.1_Missense_Mutation_p.T24P|HAVCR1_uc003lwi.2_Missense_Mutation_p.T193P|HAVCR1_uc021ygj.1_Missense_Mutation_p.T193P|HAVCR1_uc021ygk.1_Missense_Mutation_p.T24P|HAVCR1_uc011ddm.2_Missense_Mutation_p.T193P	NM_001099414	NP_036338	Q96D42	HAVR1_HUMAN	Homo sapiens hepatitis A virus cellular receptor 1 (HAVCR1), transcript variant 2, mRNA.	188	11 X 6 AA approximate tandem repeats of V-P-T-T-T-T].|Thr-rich.				interspecies interaction between organisms	integral to membrane	receptor activity	p.T192T(1)		endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ATGCTCGTTGTCGTTGGAACG	0.468000														352			24		0	0	1	0	0
DDX25	29118	broad.mit.edu	37	11	125778165	125778165	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:125778165C>A	uc001qcz.4	+	4	527	c.386C>A	c.(385-387)cCt>cAt	p.P129H	DDX25_uc010sbk.2_Missense_Mutation_p.P129H	NM_013264	NP_037396	Q9UHL0	DDX25_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 25 (DDX25), mRNA.	129					mRNA export from nucleus|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|nucleus	ATP binding|ATP-dependent RNA helicase activity|RNA binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)	10	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0203)|Lung NSC(97;0.0203)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.14e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.046)		ATGGCTCTCCCTATGATGCTG	0.368000														26			3		1	1	1	1	0
ADCY9	115	broad.mit.edu	37	16	4029158	4029158	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:4029158C>T	uc002cvx.3	-	7	3177	c.2638G>A	c.(2638-2640)Gtc>Atc	p.V880I		NM_001116	NP_001107	O60503	ADCY9_HUMAN	Homo sapiens adenylate cyclase 9 (ADCY9), mRNA.	880					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	ATP binding|adenylate cyclase activity|metal ion binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TGGGAGTAGACGGCCAGTGCG	0.572000														44			20		0	0	1	0	0
TRPS1	7227	broad.mit.edu	37	8	116599751	116599751	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:116599751G>T	uc003yny.3	-	4	2755	c.2177C>A	c.(2176-2178)aCt>aAt	p.T726N	TRPS1_uc011lhy.2_Missense_Mutation_p.T717N|TRPS1_uc003ynz.3_Missense_Mutation_p.T713N|TRPS1_uc010mcy.3_Missense_Mutation_p.T713N	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	Homo sapiens trichorhinophalangeal syndrome I (TRPS1), mRNA.	713	Mediates interaction with GLI3.				NLS-bearing substrate import into nucleus|negative regulation of transcription from RNA polymerase II promoter|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G726G(1)		autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			GCAGTGAACAGTGTTGAAGTG	0.502000									Langer-Giedion syndrome					83			11		4.68919e-08	5.46558e-08	1	1	0
SACS	26278	broad.mit.edu	37	13	23914982	23914982	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:23914982C>T	uc001uon.2	-	9	3622	c.3033G>A	c.(3031-3033)caG>caA	p.Q1011Q	SACS_uc001uoo.2_Silent_p.Q864Q|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA.	1011					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|Hsp70 protein binding|chaperone binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		ATAACATAAGCTGTGTTACCT	0.328000														79			55		0	0	1	0	0
IL1RL1	9173	broad.mit.edu	37	2	102958729	102958729	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:102958729A>G	uc002tbu.1	+	5	928	c.657A>G	c.(655-657)caA>caG	p.Q219Q	IL1RL1_uc010ywa.2_Silent_p.Q102Q|IL18R1_uc002tbw.4_Intron|IL1RL1_uc002tbv.3_Silent_p.Q219Q	NM_016232	NP_057316	Q01638	ILRL1_HUMAN	Homo sapiens interleukin 1 receptor-like 1 (IL1RL1), transcript variant 1, mRNA.	219	Ig-like C2-type 3.				innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						CCCCTGCACAAAATGAAATAA	0.353000														38			18		0	0	1	0	0
MSX1	4487	broad.mit.edu	37	4	4864565	4864565	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:4864565G>A	uc003gif.3	+	1	842	c.607G>A	c.(607-609)Gcg>Acg	p.A203T		NM_002448	NP_002439	P28360	MSX1_HUMAN	Homo sapiens msh homeobox 1 (MSX1), mRNA.	197					apoptotic nuclear change|face morphogenesis|negative regulation of cell growth|odontogenesis of dentine-containing tooth|positive regulation of apoptosis|protein localization to nucleus|protein stabilization	nucleus	p53 binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	11				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		CGCCGAGCGCGCGGAGTTCTC	0.627000														32			24		0	0	1	0	0
CHKB	1120	broad.mit.edu	37	22	51019850	51019850	+	Splice_Site	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:51019850G>A	uc003bmv.3	-	4	799	c.581_splice	c.e4+1	p.R194_splice	CPT1B_uc003bmm.3_5'Flank|CPT1B_uc003bml.3_5'Flank|CPT1B_uc003bmo.3_5'Flank|CPT1B_uc011asa.2_5'Flank|CPT1B_uc003bmn.3_5'Flank|CPT1B_uc011asb.2_5'Flank|CPT1B_uc003bmp.3_5'Flank|CPT1B_uc021wsc.1_Splice_Site|CHKB_uc003bmt.2_Intron|CHKB_uc003bmu.3_Splice_Site_p.R73_splice|LOC100144603_uc003bmw.4_5'Flank	NM_005198	NP_005189	Q9Y259	CHKB_HUMAN	Homo sapiens choline kinase beta (CHKB), mRNA.	194					phosphatidylethanolamine biosynthetic process		ATP binding|choline kinase activity|ethanolamine kinase activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|ovary(3)|skin(1)|urinary_tract(1)	15		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;4.04e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.79e-74)|Epithelial(4;6.17e-70)|GBM - Glioblastoma multiforme(4;5.68e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.205)	Choline(DB00122)	CTGACTCACCGCTCCATGGTC	0.587000														12			14		0	0	1	0	0
ZNHIT6	54680	broad.mit.edu	37	1	86173606	86173606	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:86173606G>A	uc001dlh.3	-	0	511	c.362C>T	c.(361-363)aCg>aTg	p.T121M	ZNHIT6_uc010osc.2_Missense_Mutation_p.T82M	NM_017953	NP_060423	Q9NWK9	BCD1_HUMAN	Homo sapiens zinc finger, HIT-type containing 6 (ZNHIT6), transcript variant 1, mRNA.	121	Glu-rich.				box C/D snoRNP assembly|ribosome biogenesis	pre-snoRNP complex	identical protein binding|metal ion binding			autonomic_ganglia(1)|breast(2)|cervix(2)|large_intestine(10)|lung(1)|urinary_tract(1)	17						ACTACTATCCGTCTCCTGCTT	0.507000														27			52		0	0	1	0	0
PDZD8	118987	broad.mit.edu	37	10	119043158	119043158	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:119043158G>A	uc001lde.1	-	4	3285	c.3086C>T	c.(3085-3087)aCa>aTa	p.T1029I		NM_173791	NP_776152	Q8NEN9	PDZD8_HUMAN	Homo sapiens PDZ domain containing 8 (PDZD8), mRNA.	1029					intracellular signal transduction		metal ion binding			kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		CCTTTCCTCTGTAGGCAAGCC	0.398000														169			14		0	0	1	0	0
KRT16	3868	broad.mit.edu	37	17	39766687	39766687	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:39766687C>A	uc002hxg.4	-	5	1315	c.1176G>T	c.(1174-1176)gaG>gaT	p.E392D	JUP_uc010wfs.2_Intron	NM_005557	NP_005548	P08779	K1C16_HUMAN	Homo sapiens keratin 16 (KRT16), mRNA.	392	Coil 2.|Rod.				cell proliferation|epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Breast(137;0.000307)				GCTGCTCCATCTCACAGCGTA	0.617000														87			6		0.0215528	0.0220531	1	1	0
CDK11B	984	broad.mit.edu	37	1	1575652	1575652	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:1575652G>T	uc001agv.1	-	11	1314	c.1231C>A	c.(1231-1233)Ctg>Atg	p.L411M	CDK11B_uc009vkj.2_Missense_Mutation_p.L70M|CDK11B_uc001ags.1_Missense_Mutation_p.L271M|CDK11B_uc001agt.1_Missense_Mutation_p.L196M|CDK11B_uc001aha.1_Missense_Mutation_p.L377M|CDK11B_uc001agw.1_Missense_Mutation_p.L361M|CDK11B_uc001agy.1_Missense_Mutation_p.L404M|CDK11B_uc001agx.1_Missense_Mutation_p.L395M|CDK11B_uc001agz.1_Missense_Mutation_p.L157M	NM_033486	NP_277021	P21127	CD11B_HUMAN	Homo sapiens cyclin-dependent kinase 11B (CDK11B), transcript variant 2, mRNA.	426					apoptosis|cell proliferation|mitosis|regulation of cell growth|regulation of mRNA processing|regulation of transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity|protein binding			endometrium(2)|large_intestine(3)|lung(4)|skin(1)|stomach(2)	12						AGGGCCGGCAGGTACTTGGGC	0.682000														15			14		8.34094e-07	9.49533e-07	1	1	0
IGF2	3481	broad.mit.edu	37	11	2154381	2154381	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:2154381G>A	uc009yde.3	-	3	482	c.379C>T	c.(379-381)Cgc>Tgc	p.R127C	IGF2_uc001lvf.3_Non-coding_Transcript|IGF2_uc001lvg.3_Missense_Mutation_p.R127C|IGF2_uc009ydf.3_Missense_Mutation_p.R183C|IGF2_uc021qcb.1_Missense_Mutation_p.R127C|IGF2_uc001lvh.3_Missense_Mutation_p.R127C|IGF2_uc001lvi.3_Non-coding_Transcript	NM_001007139	NP_001007140	P01344	IGF2_HUMAN	Homo sapiens insulin-like growth factor 2 (somatomedin A) (IGF2), transcript variant 2, mRNA.	127					glucose metabolic process|ossification|phosphatidylinositol 3-kinase cascade involved in insulin receptor signaling|positive regulation of MAPKKK cascade|positive regulation of activated T cell proliferation|positive regulation of cell division|positive regulation of glycogen (starch) synthase activity|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of mitosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|skeletal system development	extracellular space	growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|protein serine/threonine kinase activator activity|receptor activator activity			central_nervous_system(1)|kidney(1)|lung(1)|pancreas(1)|skin(1)|urinary_tract(1)	6		all_epithelial(84;5.04e-06)|Breast(177;0.000777)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	Colorectal(5;0.0179)|COAD - Colon adenocarcinoma(6;0.029)	BRCA - Breast invasive adenocarcinoma(625;1.09e-05)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)		AGGCCCCTGCGCAGGCGCTGG	0.662000														14			11		0	0	1	0	0
POLD3	10714	broad.mit.edu	37	11	74340269	74340269	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:74340269C>T	uc001ovf.1	+	8	982	c.907C>T	c.(907-909)Cga>Tga	p.R303*	POLD3_uc009yua.1_Nonsense_Mutation_p.R197*	NM_006591	NP_006582	Q15054	DPOD3_HUMAN	Homo sapiens polymerase (DNA-directed), delta 3, accessory subunit (POLD3), mRNA.	303					DNA strand elongation involved in DNA replication|DNA synthesis involved in DNA repair|S phase of mitotic cell cycle|base-excision repair|mismatch repair|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm	DNA-directed DNA polymerase activity|protein binding	p.R303L(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|stomach(1)	18	Breast(11;3.21e-06)					CAGGGGGAAGCGAGTAGCATT	0.383000														118			46		0	0	1	0	0
CNBP	7555	broad.mit.edu	37	3	128889325	128889325	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:128889325G>A	uc021xdu.1	-	3	525	c.511C>T	c.(511-513)Cgg>Tgg	p.R171W	CNBP_uc021xdt.1_Missense_Mutation_p.R164W|CNBP_uc003elr.4_Missense_Mutation_p.R162W|CNBP_uc003elq.4_Missense_Mutation_p.R169W|CNBP_uc021xdv.1_Missense_Mutation_p.R163W|CNBP_uc021xdw.1_Missense_Mutation_p.R170W|CNBP_uc011bku.2_Missense_Mutation_p.R152W	NM_001127192	NP_001120664	P62633	CNBP_HUMAN	Homo sapiens CCHC-type zinc finger, nucleic acid binding protein (CNBP), transcript variant 1, mRNA.	169					cholesterol biosynthetic process	endoplasmic reticulum	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.C171F(1)		biliary_tract(1)|endometrium(1)|kidney(1)|lung(2)	5						GTGCATTCCCGTGCAAGGTGC	0.448000														163			14		0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39835840	39835840	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:39835840G>A	uc021olw.1	+	14	8397	c.8397G>A	c.(8395-8397)aaG>aaA	p.K2799K	MACF1_uc021ols.1_Silent_p.K2297K|MACF1_uc001cdc.2_Silent_p.K2297K|MACF1_uc021olt.1_Silent_p.K2297K|MACF1_uc001cda.1_Silent_p.K2205K|MACF1_uc001cdb.1_Silent_p.K1384K	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	4364					Golgi to plasma membrane protein transport|Wnt receptor signaling pathway|cell cycle arrest|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|wound healing	Golgi apparatus|microtubule|ruffle membrane	ATPase activity|actin filament binding|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGTTAGAAAAGCAGATTGAAC	0.453000														24			3		0	0	1	0	0
DAPK3	1613	broad.mit.edu	37	19	3959164	3959164	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:3959164C>T	uc002lzc.1	-	7	1394	c.1300G>A	c.(1300-1302)Gtg>Atg	p.V434M	DAPK3_uc002lzb.1_Missense_Mutation_p.V171M|DAPK3_uc002lzd.1_Missense_Mutation_p.V434M	NM_001348	NP_001339	O43293	DAPK3_HUMAN	Homo sapiens death-associated protein kinase 3 (DAPK3), mRNA.	434	Interaction with CDC5L (By similarity).				apoptosis|chromatin modification|induction of apoptosis|intracellular protein kinase cascade	PML body|cytoplasm	ATP binding|leucine zipper domain binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGTCCTGCACGAAGCGCATC	0.721000														1			5		0	0	1	0	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19412805	19412805	+	RNA	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:19412805T>C	uc010tcj.1	-	0		c.33305A>G								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		AATTTTAATGTCCTTAAGATA	0.308000														45			15		0	0	1	0	0
LRIT2	340745	broad.mit.edu	37	10	85982088	85982088	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:85982088C>A	uc010qmc.2	-	3	1279	c.1271G>T	c.(1270-1272)gGa>gTa	p.G424V	LRIT2_uc001kcy.3_Missense_Mutation_p.G414V	NM_001017924	NP_001017924	A6NDA9	LRIT2_HUMAN	Homo sapiens leucine-rich repeat, immunoglobulin-like and transmembrane domains 2 (LRIT2), mRNA.	414	Fibronectin type-III.					integral to membrane		p.G414L(2)|p.G414V(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						AGTATTGATTCCGGGGCCAAT	0.552000														78			11		4.68919e-08	5.46558e-08	1	1	0
RNF214	257160	broad.mit.edu	37	11	117117585	117117585	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:117117585G>A	uc001pqt.3	+	5	925	c.880G>A	c.(880-882)Gag>Aag	p.E294K	RNF214_uc001pqu.3_Missense_Mutation_p.E294K|RNF214_uc010rxf.2_Missense_Mutation_p.E139K	NM_207343	NP_997226	Q8ND24	RN214_HUMAN	Homo sapiens ring finger protein 214 (RNF214), transcript variant 1, mRNA.	294							zinc ion binding			cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258)		GAAGAAGATAGAGAAAGAGAA	0.378000														138			11		0	0	1	0	0
FNBP1L	54874	broad.mit.edu	37	1	94016649	94016649	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:94016649G>T	uc010otk.2	+	15	1948	c.1797G>T	c.(1795-1797)gaG>gaT	p.E599D	FNBP1L_uc001dpv.3_Missense_Mutation_p.E541D|FNBP1L_uc001dpw.3_Missense_Mutation_p.E541D|FNBP1L_uc010otl.2_Missense_Mutation_p.E151D	NM_001164473	NP_001157945	Q5T0N5	FBP1L_HUMAN	Homo sapiens formin binding protein 1-like (FNBP1L), transcript variant 3, mRNA.	599	Interaction with DAAM1, DIAPH1 and DIAPH2.|Interaction with DNM1.|SH3.				endocytosis	cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane	lipid binding			breast(2)|kidney(2)|large_intestine(4)|lung(2)|urinary_tract(1)	11		all_lung(203;0.00206)|Lung NSC(277;0.00902)|Melanoma(281;0.155)		all cancers(265;0.00666)|GBM - Glioblastoma multiforme(16;0.0378)|Epithelial(280;0.111)		TAACTCTAGAGAAAAACAGTA	0.413000														29			11		9.70103e-10	1.16071e-09	1	1	0
KIF25	3834	broad.mit.edu	37	6	168445637	168445637	+	Silent	SNP	G	A	A	rs139018818		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:168445637G>A	uc003qwk.1	+	8	1378	c.1116G>A	c.(1114-1116)ccG>ccA	p.P372P	KIF25_uc003qwl.1_Silent_p.P320P	NM_030615	NP_085118	Q9UIL4	KIF25_HUMAN	Homo sapiens kinesin family member 25 (KIF25), transcript variant 1, mRNA.	372					microtubule-based movement|mitotic sister chromatid segregation	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		GAAAGAAGCCGCCCAGCTCCC	0.547000														40			26		0	0	1	0	0
CCDC30	728621	broad.mit.edu	37	1	43076716	43076716	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:43076716G>A	uc009vwk.1	+	9	1561	c.1451G>A	c.(1450-1452)cGt>cAt	p.R484H	CCDC30_uc001chm.2_Missense_Mutation_p.R182H|CCDC30_uc001chn.2_Missense_Mutation_p.R273H	NM_001080850	NP_001074319	Q5VVM6	CCD30_HUMAN	Homo sapiens coiled-coil domain containing 30 (CCDC30), mRNA.	484										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						GAAGCTCTACGTGAAGAATAT	0.358000														49			20		0	0	1	0	0
COX18	285521	broad.mit.edu	37	4	73931073	73931073	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:73931073G>A	uc011cbc.1	-	2	598	c.492C>T	c.(490-492)aaC>aaT	p.N164N	COX18_uc003hgm.1_Silent_p.N164N|COX18_uc003hgn.1_Silent_p.N13N|COX18_uc010iih.1_Silent_p.N164N	NM_173827	NP_776188	Q8N8Q8	COX18_HUMAN	Homo sapiens COX18 cytochrome c oxidase assembly homolog (S. cerevisiae) (COX18), nuclear gene encoding mitochondrial protein, mRNA.	164					protein insertion into mitochondrial membrane|respiratory chain complex IV assembly	integral to mitochondrial inner membrane	protein transporter activity			large_intestine(4)|lung(2)	6	Breast(15;0.00096)		Epithelial(6;1.26e-06)|OV - Ovarian serous cystadenocarcinoma(6;9.45e-06)|all cancers(17;2.05e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AAGGGTGGCAGTTATCTCGCA	0.438000														57			28		0	0	1	0	0
SLX4	84464	broad.mit.edu	37	16	3632419	3632419	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:3632419G>T	uc002cvp.2	-	14	6056	c.5429C>A	c.(5428-5430)aCt>aAt	p.T1810N		NM_032444	NP_115820	Q8IY92	SLX4_HUMAN	Homo sapiens SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae) (SLX4), mRNA.	1810	Interaction with PLK1 and TERF2-TERF2IP.|Interaction with SLX1.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						GGTGGCGGCAGTGGTGAAGGT	0.667000								Direct reversal of damage						133			10		4.68919e-08	5.46558e-08	1	1	0
KCNH1	3756	broad.mit.edu	37	1	211093189	211093189	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:211093189G>T	uc001hib.2	-	6	1425	c.1255C>A	c.(1255-1257)Ctg>Atg	p.L419M	KCNH1_uc001hic.2_Missense_Mutation_p.L392M	NM_172362	NP_758872	O95259	KCNH1_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 1 (KCNH1), transcript variant 1, mRNA.	419					myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		AGTTGGTACAGCCAGCTGTTG	0.527000														61			37		2.20474e-14	2.7607e-14	1	1	0
PABPC1	26986	broad.mit.edu	37	8	101724636	101724636	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:101724636C>T	uc003yjs.1	-	6	1430	c.926G>A	c.(925-927)cGt>cAt	p.R309H	PABPC1_uc011lhc.1_Missense_Mutation_p.R277H|PABPC1_uc011lhd.1_Missense_Mutation_p.R264H|PABPC1_uc003yjt.1_Missense_Mutation_p.R306H|PABPC1_uc003yju.2_Non-coding_Transcript	NM_002568	NP_002559	P11940	PABP1_HUMAN	Homo sapiens poly(A) binding protein, cytoplasmic 1 (PABPC1), mRNA.	309	RRM 4.				mRNA polyadenylation|mRNA stabilization|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|translation	catalytic step 2 spliceosome|cytosol	nucleotide binding|poly(A) RNA binding|protein C-terminus binding|translation activator activity			breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			TTTCCGGAGACGTTCATCATC	0.318000														162			86		0	0	1	0	0
RAI2	10742	broad.mit.edu	37	X	17818660	17818660	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:17818660C>T	uc022btm.1	-	0	1471	c.1471G>A	c.(1471-1473)Gca>Aca	p.A491T	RAI2_uc004cyf.3_Missense_Mutation_p.A491T|RAI2_uc004cyg.3_Missense_Mutation_p.A491T|RAI2_uc011miy.2_Missense_Mutation_p.A441T|RAI2_uc022btl.1_Missense_Mutation_p.A491T|RAI2_uc004cyh.4_Missense_Mutation_p.A491T|RAI2_uc010nfa.3_Missense_Mutation_p.A491T	NM_021785	NP_068557	Q9Y5P3	RAI2_HUMAN	Homo sapiens retinoic acid induced 2 (RAI2), transcript variant 2, mRNA.	491					embryo development					breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	22	Hepatocellular(33;0.183)					AGGGGCTCTGCATTTCCCATG	0.478000														523			47		0	0	1	0	0
TSEN2	80746	broad.mit.edu	37	3	12545146	12545146	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:12545146C>T	uc003bxc.3	+	4	1081	c.694C>T	c.(694-696)Cgt>Tgt	p.R232C	TSEN2_uc003bwz.3_Splice_Site_p.R173_splice|TSEN2_uc003bxa.3_Missense_Mutation_p.R232C|TSEN2_uc011auq.1_Missense_Mutation_p.R232C|TSEN2_uc003bxb.3_Missense_Mutation_p.R232C|TSEN2_uc011aur.1_Missense_Mutation_p.R141C	NM_025265	NP_079541	Q8NCE0	SEN2_HUMAN	Homo sapiens tRNA splicing endonuclease 2 homolog (S. cerevisiae) (TSEN2), transcript variant 1, mRNA.	232					mRNA processing|tRNA splicing, via endonucleolytic cleavage and ligation	cytoplasm|nucleolus|tRNA-intron endonuclease complex	nucleic acid binding|tRNA-intron endonuclease activity	p.R232L(1)		central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)	19						CATCCTCCAGCGTGGCCTTCA	0.582000														7			9		0	0	1	0	0
RHBDF1	64285	broad.mit.edu	37	16	108627	108627	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:108627G>T	uc002cfl.4	-	17	2423	c.2280C>A	c.(2278-2280)acC>acA	p.T760T		NM_022450	NP_071895	Q96CC6	RHDF1_HUMAN	Homo sapiens rhomboid 5 homolog 1 (Drosophila) (RHBDF1), mRNA.	760					cell migration|cell proliferation|negative regulation of protein secretion|protein transport|proteolysis|regulation of epidermal growth factor receptor signaling pathway|regulation of proteasomal protein catabolic process	Golgi membrane|endoplasmic reticulum membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	18		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)				GCAGCCCAAAGGTGAAGAGGA	0.587000														61			8		1.06961e-07	1.2399e-07	1	1	0
EFHC1	114327	broad.mit.edu	37	6	52334250	52334250	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:52334250G>A	uc003pap.4	+	6	1472	c.1257G>A	c.(1255-1257)gtG>gtA	p.V419V	EFHC1_uc011dwv.1_Silent_p.V328V|EFHC1_uc011dww.2_Silent_p.V400V	NM_018100	NP_060570	Q5JVL4	EFHC1_HUMAN	Homo sapiens EF-hand domain (C-terminal) containing 1 (EFHC1), transcript variant A, mRNA.	419	DM10 3.					axoneme|neuronal cell body	calcium ion binding|protein C-terminus binding			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	27	Lung NSC(77;0.109)					ATAACAAGGTGCTTCGTTATT	0.343000														111			10		0	0	1	0	0
FOXN4	121643	broad.mit.edu	37	12	109723189	109723189	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:109723189C>T	uc001toe.4	-	7	926	c.821G>A	c.(820-822)cGc>cAc	p.R274H	FOXN4_uc009zvg.3_Missense_Mutation_p.R71H|FOXN4_uc001tof.4_Missense_Mutation_p.R94H	NM_213596	NP_998761	Q96NZ1	FOXN4_HUMAN	Homo sapiens forkhead box N4 (FOXN4), mRNA.	274					axon extension|embryo development|organ development|pattern specification process|regulation of heart contraction|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA 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			large_intestine(5)|lung(9)|ovary(2)	16						CTTGTCGATGCGGGCCAGGTT	0.617000														13			9		0	0	1	0	0
XPO6	23214	broad.mit.edu	37	16	28117818	28117818	+	Splice_Site	SNP	T	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:28117818T>A	uc002dpa.1	-	19	2999	c.2498_splice	c.e19-1	p.D833_splice	XPO6_uc002dpb.1_Splice_Site_p.D819_splice|XPO6_uc010vcp.1_Splice_Site_p.D833_splice	NM_015171	NP_055986	Q96QU8	XPO6_HUMAN	Homo sapiens exportin 6 (XPO6), mRNA.	833					protein export from nucleus		protein binding|protein transporter activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						ATCAGTCACATCTGAGGAAAG	0.483000														61			8		0	0	1	0	0
CLSPN	63967	broad.mit.edu	37	1	36214109	36214109	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:36214109T>C	uc001bzi.3	-	12	2449	c.2369A>G	c.(2368-2370)aAc>aGc	p.N790S	CLSPN_uc009vux.3_Missense_Mutation_p.N726S	NM_022111	NP_071394	Q9HAW4	CLSPN_HUMAN	Homo sapiens claspin (CLSPN), transcript variant 1, mRNA.	790					DNA repair|DNA replication|G2/M transition DNA damage checkpoint|activation of protein kinase activity|cell cycle|cellular component disassembly involved in apoptosis|mitotic cell cycle DNA replication checkpoint|peptidyl-serine phosphorylation	nucleoplasm	DNA binding|anaphase-promoting complex binding			NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TGTTTGTCTGTTGCAAGGCTG	0.488000														80			11		0	0	1	0	0
DMKN	93099	broad.mit.edu	37	19	35991443	35991443	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:35991443C>A	uc002nzm.4	-	11	1462	c.1279G>T	c.(1279-1281)Gac>Tac	p.D427Y	DMKN_uc002nzi.4_Missense_Mutation_p.D41Y|DMKN_uc002nzj.3_Missense_Mutation_p.D101Y|DMKN_uc002nzl.4_Missense_Mutation_p.D140Y|DMKN_uc002nzk.4_Missense_Mutation_p.D74Y|DMKN_uc002nzo.4_Missense_Mutation_p.D416Y|DMKN_uc002nzn.4_Missense_Mutation_p.D386Y|DMKN_uc002nzu.2_Missense_Mutation_p.D74Y|DMKN_uc002nzv.2_Missense_Mutation_p.D74Y|DMKN_uc002nzw.2_Missense_Mutation_p.D83Y|DMKN_uc002nzq.2_Missense_Mutation_p.D103Y|DMKN_uc002nzp.2_Missense_Mutation_p.D121Y|DMKN_uc002nzr.2_Missense_Mutation_p.D83Y|DMKN_uc002nzs.2_Missense_Mutation_p.D74Y|DMKN_uc002nzt.2_Missense_Mutation_p.D74Y|DMKN_uc010xsw.2_Missense_Mutation_p.D123Y|DMKN_uc010xsv.1_Missense_Mutation_p.D74Y	NM_033317	NP_201574	Q6E0U4	DMKN_HUMAN	Homo sapiens dermokine (DMKN), transcript variant 2, mRNA.	427			D -> A (in dbSNP:rs909072).			extracellular region				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(2)	27	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			ACCTGATCGTCTCTGCCTGCA	0.597000														7			8		0.00448238	0.0046769	1	1	0
MPZL1	9019	broad.mit.edu	37	1	167757092	167757092	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:167757092C>T	uc001geo.3	+	5	946	c.744C>T	c.(742-744)ggC>ggT	p.G248G	MPZL1_uc001gep.3_3'UTR|MPZL1_uc001geq.3_Silent_p.G98G|MPZL1_uc009wvh.3_Non-coding_Transcript	NM_003953	NP_003944	O95297	MPZL1_HUMAN	Homo sapiens myelin protein zero-like 1 (MPZL1), transcript variant 1, mRNA.	248					cell-cell signaling|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	protein binding|structural molecule activity	p.G248G(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(2)	15	all_hematologic(923;0.215)					ACCACTCCGGCGGACATCACA	0.463000														23			14		0	0	1	0	0
C5orf25	375484	broad.mit.edu	37	5	175763812	175763812	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:175763812G>A	uc003mds.4	+	9	2611	c.2204G>A	c.(2203-2205)cGc>cAc	p.R735H	C5orf25_uc003mdr.3_Non-coding_Transcript|C5orf25_uc003mdt.4_Missense_Mutation_p.R320H|C5orf25_uc003mdv.3_Missense_Mutation_p.R196H			Q8NDZ2	CE025_HUMAN	Homo sapiens chromosome 5 open reading frame 25 (C5orf25), mRNA.	735												all_cancers(89;0.00381)|Renal(175;0.000269)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.119)		ACACCCACCCGCCTGCCTCTG	0.483000														40			34		0	0	1	0	0
SLITRK6	84189	broad.mit.edu	37	13	86369282	86369282	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:86369282G>A	uc001vll.1	-	1	1821	c.1362C>T	c.(1360-1362)acC>acT	p.T454T	SLITRK6_uc021rla.1_Silent_p.T454T	NM_032229	NP_115605	Q9H5Y7	SLIK6_HUMAN	Homo sapiens SLIT and NTRK-like family, member 6 (SLITRK6), mRNA.	454						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		TTGGATTAAAGGTTCCTGGCA	0.358000														60			32		0	0	1	0	0
ZNF236	7776	broad.mit.edu	37	18	74637348	74637348	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:74637348C>T	uc002lmi.3	+	21	4057	c.3859C>T	c.(3859-3861)Cga>Tga	p.R1287*	ZNF236_uc002lmj.3_Non-coding_Transcript	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN	Homo sapiens zinc finger protein 236 (ZNF236), mRNA.	1287					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		GCCTATGACTCGAAGCTCATC	0.483000														30			31		0	0	1	0	0
FOXP1	27086	broad.mit.edu	37	3	71026811	71026811	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:71026811C>T	uc003dol.3	-	11	1734	c.1411G>A	c.(1411-1413)Gca>Aca	p.A471T	FOXP1_uc003dom.3_Missense_Mutation_p.A395T|FOXP1_uc003don.3_Non-coding_Transcript|FOXP1_uc021xan.1_Missense_Mutation_p.A471T|FOXP1_uc003doo.3_Missense_Mutation_p.A470T|FOXP1_uc003dop.3_Missense_Mutation_p.A471T|FOXP1_uc021xao.1_Missense_Mutation_p.A471T|FOXP1_uc003doq.1_Missense_Mutation_p.A470T|FOXP1_uc003doi.3_Missense_Mutation_p.A371T|FOXP1_uc003dok.3_Missense_Mutation_p.A397T|FOXP1_uc003doj.3_Missense_Mutation_p.A473T|FOXP1_uc003dor.1_Missense_Mutation_p.A248T	NM_001244814	NP_001231743	Q9H334	FOXP1_HUMAN	Homo sapiens forkhead box P1 (FOXP1), transcript variant 7, mRNA.	471					cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	DNA bending activity|chromatin binding|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA 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|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		ATTAAAGATGCATATGTAAAT	0.299000			T	PAX5	ALL									73			6		0	0	1	0	0
MTHFD1	4522	broad.mit.edu	37	14	64920503	64920503	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:64920503C>T	uc001xhb.3	+	24	2876	c.2489C>T	c.(2488-2490)gCa>gTa	p.A830V	MTHFD1_uc010aqf.3_Missense_Mutation_p.A886V|ZBTB25_uc001xhc.3_Intron	NM_005956	NP_005947	P11586	C1TC_HUMAN	Homo sapiens methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase (MTHFD1), mRNA.	830	Formyltetrahydrofolate synthetase.				folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process	cytosol|mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase|methylenetetrahydrofolate dehydrogenase (NADP+) activity|protein binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30				OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	NADH(DB00157)|Tetrahydrofolic acid(DB00116)	AGGATCATTGCACAGAAGATC	0.438000														28			16		0	0	1	0	0
MEP1A	4224	broad.mit.edu	37	6	46806765	46806765	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:46806765C>T	uc011dwh.1	+	12	2225	c.2217C>T	c.(2215-2217)gcC>gcT	p.A739A	MEP1A_uc010jzh.1_Silent_p.A711A|MEP1A_uc011dwg.1_Silent_p.A433A|MEP1A_uc011dwi.1_Silent_p.A611A	NM_005588	NP_005579	Q16819	MEP1A_HUMAN	Homo sapiens meprin A, alpha (PABA peptide hydrolase) (MEP1A), mRNA.	711					digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			GCTGTCAGGCCGTGCAGGTGC	0.587000														75			39		0	0	1	0	0
SLC47A1	55244	broad.mit.edu	37	17	19480755	19480755	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:19480755C>T	uc002gvx.3	+	16	1688	c.1602C>T	c.(1600-1602)ggC>ggT	p.G534G	SLC47A1_uc002gvy.1_Silent_p.G534G|SLC47A1_uc010vyz.1_3'UTR|SLC47A1_uc010cqp.1_Silent_p.G232G|SLC47A1_uc010cqq.1_Silent_p.G280G|SLC47A1_uc010vza.1_Silent_p.G246G|SLC47A1_uc010vzb.1_Silent_p.G209G|SLC47A1_uc010vzc.1_Silent_p.G206G	NM_018242	NP_060712	Q96FL8	S47A1_HUMAN	Homo sapiens solute carrier family 47, member 1 (SLC47A1), mRNA.	534						integral to membrane|plasma membrane	drug:hydrogen antiporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)					CACAGGACGGCGCTAAATTGT	0.507000														98			57		0	0	1	0	0
KIAA0090	23065	broad.mit.edu	37	1	19550001	19550001	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:19550001G>T	uc001bbo.3	-	18	2308	c.2265C>A	c.(2263-2265)acC>acA	p.T755T	KIAA0090_uc001bbn.3_5'Flank|KIAA0090_uc001bbp.3_Silent_p.T754T|KIAA0090_uc001bbq.3_Silent_p.T754T|KIAA0090_uc001bbr.3_Silent_p.T733T	NM_015047	NP_055862	Q8N766	K0090_HUMAN	Homo sapiens KIAA0090 (KIAA0090), mRNA.	755	DUF1620.					integral to membrane	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	25		Colorectal(325;0.000147)|Renal(390;0.000469)|Breast(348;0.00366)|all_lung(284;0.00519)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;3.84e-05)|Kidney(64;0.000191)|KIRC - Kidney renal clear cell carcinoma(64;0.00274)|GBM - Glioblastoma multiforme(114;0.005)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0656)		TGCCAATAAAGGTGCGCTCAT	0.542000														55			39		1.58521e-26	2.07898e-26	1	1	0
CAND2	23066	broad.mit.edu	37	3	12858323	12858323	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:12858323T>C	uc003bxk.2	+	9	1941	c.1892T>C	c.(1891-1893)aTc>aCc	p.I631T	CAND2_uc003bxj.2_Missense_Mutation_p.I538T	NM_001162499	NP_001155971	O75155	CAND2_HUMAN	Homo sapiens cullin-associated and neddylation-dissociated 2 (putative) (CAND2), transcript variant 1, mRNA.	631					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						CTGCCCGCCATCAAGGCGCTT	0.627000														74			49		0	0	1	0	0
TSPAN5	10098	broad.mit.edu	37	4	99403289	99403289	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:99403289A>G	uc003hub.3	-	3	752	c.317T>C	c.(316-318)cTc>cCc	p.L106P	TSPAN5_uc011cdz.2_Missense_Mutation_p.L35P	NM_005723	NP_005714	P62079	TSN5_HUMAN	Homo sapiens tetraspanin 5 (TSPAN5), mRNA.	106						integral to membrane				kidney(2)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(123;1.89e-07)		TCCGGCAGTGAGCTCCAGGAA	0.363000														70			5		0	0	1	0	0
ABCB9	23457	broad.mit.edu	37	12	123428988	123428988	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:123428988T>C	uc001udm.4	-	6	1640	c.1330A>G	c.(1330-1332)Aac>Gac	p.N444D	ABCB9_uc021rfo.1_Missense_Mutation_p.N444D|ABCB9_uc021rfp.1_Missense_Mutation_p.N444D|ABCB9_uc010tai.2_Missense_Mutation_p.N51D|ABCB9_uc001udo.4_Intron|ABCB9_uc010taj.2_Missense_Mutation_p.N444D|ABCB9_uc001udq.3_Missense_Mutation_p.N226D|ABCB9_uc021rfq.1_Missense_Mutation_p.N444D|ABCB9_uc001udr.3_Missense_Mutation_p.N444D	NM_019625	NP_062571	Q9NP78	ABCB9_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 9 (ABCB9), transcript variant 1, mRNA.	444	ABC transmembrane type-1.				positive regulation of T cell mediated cytotoxicity|protein transport	TAP complex|lysosomal membrane|plasma membrane	ATP binding|MHC class I protein binding|TAP1 binding|TAP2 binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|tapasin binding	p.G443C(1)		central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(1)	18	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.84e-05)|Epithelial(86;0.000152)|BRCA - Breast invasive adenocarcinoma(302;0.111)		GCGATGAGGTTGCCGCTGGTC	0.587000														93			10		0	0	1	0	0
KIAA1217	56243	broad.mit.edu	37	10	24825761	24825761	+	Missense_Mutation	SNP	G	T	T	rs145406190		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:24825761G>T	uc001iru.4	+	16	3876	c.3473G>T	c.(3472-3474)cGg>cTg	p.R1158L	KIAA1217_uc001irs.3_Intron|KIAA1217_uc001irt.4_Intron|KIAA1217_uc010qcy.2_Missense_Mutation_p.R1122L|KIAA1217_uc010qcz.2_Missense_Mutation_p.R1123L|KIAA1217_uc001irw.3_Missense_Mutation_p.R841L|KIAA1217_uc001irz.3_Intron|KIAA1217_uc001irx.3_Missense_Mutation_p.R841L|KIAA1217_uc001iry.3_Missense_Mutation_p.R841L	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	1158					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						GAGCCATCCCGGGCTGACAGT	0.488000														81			12		1.5842e-08	1.86177e-08	1	1	0
TPP2	7174	broad.mit.edu	37	13	103287939	103287939	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:103287939C>T	uc001vpi.4	+	11	1499	c.1396C>T	c.(1396-1398)Ctg>Ttg	p.L466L		NM_003291	NP_003282	P29144	TPP2_HUMAN	Homo sapiens tripeptidyl peptidase II (TPP2), mRNA.	466					proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AATTTTAGGTCTGAAAGCTAA	0.403000														34			21		0	0	1	0	0
ENTHD1	150350	broad.mit.edu	37	22	40161424	40161424	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:40161424C>A	uc003ayg.3	-	5	1274	c.1023G>T	c.(1021-1023)gaG>gaT	p.E341D		NM_152512	NP_689725	Q8IYW4	ENTD1_HUMAN	Homo sapiens ENTH domain containing 1 (ENTHD1), mRNA.	341								p.E341*(1)		breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					GGCTGATAAACTCCTCTTTAC	0.398000														100			9		0.000442599	0.000473562	1	1	0
PABPC1L	80336	broad.mit.edu	37	20	43561799	43561799	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:43561799C>T	uc010ggv.1	+	9	1499	c.1417C>T	c.(1417-1419)Cgc>Tgc	p.R473C	PABPC1L_uc010zwq.1_Non-coding_Transcript|PABPC1L_uc002xmv.2_Non-coding_Transcript|PABPC1L_uc002xmw.2_Missense_Mutation_p.R27C|PABPC1L_uc002xmx.3_Missense_Mutation_p.R27C	NM_001124756	NP_001118228	Q4VXU2	PAP1L_HUMAN	Homo sapiens poly(A) binding protein, cytoplasmic 1-like (PABPC1L), mRNA.	473							RNA binding|nucleotide binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20						CCAGGTGCCACGCACGGTGCC	0.652000														8			7		0	0	1	0	0
WDR75	84128	broad.mit.edu	37	2	190338996	190338996	+	Missense_Mutation	SNP	G	A	A	rs116046757	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:190338996G>A	uc002uql.1	+	18	2194	c.2134G>A	c.(2134-2136)Gaa>Aaa	p.E712K	WDR75_uc002uqm.1_Missense_Mutation_p.E648K|WDR75_uc002uqn.1_Missense_Mutation_p.E490K	NM_032168	NP_115544	Q8IWA0	WDR75_HUMAN	Homo sapiens WD repeat domain 75 (WDR75), mRNA.	712						nucleolus				breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456)			AAAACTAAACGAAACTTTAGA	0.363000														67			58		0	0	1	0	0
C12orf74	338809	broad.mit.edu	37	12	93100751	93100751	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:93100751C>T	uc001tch.2	+	1	795	c.344C>T	c.(343-345)gCc>gTc	p.A115V	C12orf74_uc001tci.3_Missense_Mutation_p.A115V|C12orf74_uc021rbt.1_Missense_Mutation_p.A115V	NM_001037671	NP_001032760	Q32Q52	CL074_HUMAN	Homo sapiens chromosome 12 open reading frame 74 (C12orf74), transcript variant 2, mRNA.	115										kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	10						CCTGAAAGGGCCCTGAATGCA	0.547000														48			23		0	0	1	0	0
CCT8	10694	broad.mit.edu	37	21	30432936	30432936	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:30432936C>A	uc002ynb.3	-	13	1594	c.1495G>T	c.(1495-1497)Gat>Tat	p.D499Y	CCT8_uc011acp.2_Missense_Mutation_p.D480Y|CCT8_uc002yna.3_Missense_Mutation_p.D448Y|CCT8_uc011acq.2_Missense_Mutation_p.D426Y	NM_006585	NP_006576	P50990	TCPQ_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 8 (theta) (CCT8), mRNA.	499					'de novo' posttranslational protein folding	aggresome|cytosol|intermediate filament cytoskeleton|microtubule organizing center	ATP binding|ATPase activity, coupled|unfolded protein binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|prostate(3)	14						AGGTAAGTATCTAGAATACCA	0.378000														71			48		5.34276e-22	6.93187e-22	1	1	0
BEX2	84707	broad.mit.edu	37	X	102564673	102564673	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:102564673C>T	uc004eka.3	-	2	686	c.328G>A	c.(328-330)Gca>Aca	p.A110T	BEX2_uc022cbn.1_Missense_Mutation_p.A109T|BEX2_uc022cbo.1_Missense_Mutation_p.A78T|BEX2_uc004ekb.3_Missense_Mutation_p.A78T|BEX2_uc022cbp.1_Missense_Mutation_p.A78T	NM_001168399	NP_116010	Q9BXY8	BEX2_HUMAN	Homo sapiens brain expressed X-linked 2 (BEX2), transcript variant 1, mRNA.	78					apoptosis|cell cycle|regulation of apoptosis|regulation of cell cycle	cytoplasm|nucleus		p.R109L(1)		endometrium(1)|lung(1)|ovary(1)	3						CTCATCCTTGCCTGTGGCTCT	0.512000														188			18		0	0	1	0	0
LAMB4	22798	broad.mit.edu	37	7	107752304	107752304	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:107752304C>T	uc010ljo.1	-	3	364	c.280G>A	c.(280-282)Gta>Ata	p.V94I	LAMB4_uc003vey.2_Missense_Mutation_p.V94I	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	Homo sapiens laminin, beta 4 (LAMB4), mRNA.	94	Laminin N-terminal.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						TCAAAACTTACAATGACATTC	0.363000														111			34		0	0	1	0	0
LILRB4	11006	broad.mit.edu	37	19	55175251	55175251	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:55175251C>A	uc002qgp.3	+	2	472	c.110C>A	c.(109-111)tCt>tAt	p.S37Y	LILRB4_uc002qgo.1_Missense_Mutation_p.S78Y|LILRB4_uc002qgq.3_Missense_Mutation_p.S37Y|LILRB4_uc010ers.1_Intron|LILRB4_uc010ert.3_Missense_Mutation_p.S78Y|LILRB4_uc010eru.3_Missense_Mutation_p.S66Y	NM_006847	NP_006838	Q8NHJ6	LIRB4_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4 (LILRB4), transcript variant 1, mRNA.	37	Ig-like C2-type 1.					integral to membrane|plasma membrane	antigen binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		GAGCCAGGCTCTGTGATCAGC	0.607000														44			25		4.26978e-12	5.24748e-12	1	1	0
CORO1C	23603	broad.mit.edu	37	12	109095064	109095064	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:109095064G>A	uc009zva.3	-	1	239	c.190C>T	c.(190-192)Cgg>Tgg	p.R64W	CORO1C_uc001tnj.3_Missense_Mutation_p.R11W|CORO1C_uc010sxf.2_Missense_Mutation_p.R11W	NM_014325	NP_055140	Q9ULV4	COR1C_HUMAN	Homo sapiens coronin, actin binding protein, 1C (CORO1C), transcript variant 1, mRNA.	11					actin cytoskeleton organization|phagocytosis|signal transduction	actin cytoskeleton	actin filament binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|skin(4)	24						AATACATGCCGAAACTTGCTC	0.443000														76			5		0	0	1	0	0
CNTF	1270	broad.mit.edu	37	11	58391922	58391922	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:58391922G>A	uc001nna.4	+	1	610	c.530G>A	c.(529-531)cGt>cAt	p.R177H	CNTF_uc010rkm.2_Non-coding_Transcript	NM_000614	NP_000605	P26441	CNTF_HUMAN	Homo sapiens ciliary neurotrophic factor (CNTF), mRNA.	177					ciliary neurotrophic factor-mediated signaling pathway|growth|negative regulation of neuron apoptosis|positive regulation of tyrosine phosphorylation of Stat3 protein		ciliary neurotrophic factor receptor binding|growth factor activity|interleukin-6 receptor binding			NS(1)|breast(1)|kidney(2)|large_intestine(4)|lung(1)|ovary(1)	10		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				CATGACCTTCGTTTCATTTCT	0.463000														55			47		0	0	1	0	0
BLNK	29760	broad.mit.edu	37	10	97964351	97964351	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:97964351C>T	uc001kls.4	-	11	1017	c.839G>A	c.(838-840)cGc>cAc	p.R280H	BLNK_uc001kme.4_Missense_Mutation_p.R175H|BLNK_uc001klt.4_Missense_Mutation_p.R171H|BLNK_uc009xvc.3_Non-coding_Transcript|BLNK_uc001klu.4_Missense_Mutation_p.R198H|BLNK_uc001klv.4_Missense_Mutation_p.R175H|BLNK_uc001klw.4_Non-coding_Transcript|BLNK_uc001klx.4_Missense_Mutation_p.R257H|BLNK_uc001kly.4_Missense_Mutation_p.R280H|BLNK_uc001klz.4_Non-coding_Transcript|BLNK_uc001kma.4_Missense_Mutation_p.R257H|BLNK_uc001kmb.4_Missense_Mutation_p.R76H|BLNK_uc001kmc.4_Non-coding_Transcript|BLNK_uc001kmd.4_Missense_Mutation_p.R198H|BLNK_uc009xvd.3_Non-coding_Transcript	NM_013314	NP_037446	Q8WV28	BLNK_HUMAN	Homo sapiens B-cell linker (BLNK), transcript variant 1, mRNA.	280					B cell differentiation|humoral immune response|inflammatory response|intracellular signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity|transmembrane receptor protein tyrosine kinase adaptor activity	p.R280R(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(2)|stomach(1)	14		Colorectal(252;0.083)		Epithelial(162;7.89e-08)|all cancers(201;2.27e-06)		CCCTCGGTGGCGTTCAGCAGG	0.443000														50			27		0	0	1	0	0
LEF1	51176	broad.mit.edu	37	4	109084772	109084772	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:109084772G>A	uc003hyt.2	-	2	1555	c.366C>T	c.(364-366)aaC>aaT	p.N122N	LEF1_uc011cfj.1_Silent_p.N7N|LEF1_uc011cfk.2_Silent_p.N54N|LEF1_uc003hyu.2_Silent_p.N122N|LEF1_uc003hyv.2_Silent_p.N122N|LEF1_uc010imb.2_Non-coding_Transcript	NM_016269	NP_057353	Q9UJU2	LEF1_HUMAN	Homo sapiens lymphoid enhancer-binding factor 1 (LEF1), transcript variant 1, mRNA.	122	Pro-rich.				T-helper 1 cell differentiation|canonical Wnt receptor signaling pathway|cell chemotaxis|cellular response to interleukin-4|epithelial to mesenchymal transition|histone H3 acetylation|histone H4 acetylation|negative regulation of DNA binding|negative regulation of apoptosis in bone marrow|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell-cell adhesion|negative regulation of estrogen receptor binding|negative regulation of interleukin-13 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of transcription, DNA-dependent|neutrophil differentiation|osteoblast differentiation|palate development|positive regulation by host of viral transcription|positive regulation of cell cycle process|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cell proliferation in bone marrow|positive regulation of cell-cell adhesion|positive regulation of epithelial to mesenchymal transition|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	cytoplasm|protein-DNA complex|transcription factor complex	C2H2 zinc finger domain binding|DNA bending activity|armadillo repeat domain binding|beta-catenin binding|caspase inhibitor activity|enhancer binding|estrogen receptor activity|estrogen receptor binding|gamma-catenin binding|histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	25				OV - Ovarian serous cystadenocarcinoma(123;0.000224)		TGTATGGGTCGTTATTCATAT	0.428000														60			41		0	0	1	0	0
COX15	1355	broad.mit.edu	37	10	101478228	101478228	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:101478228G>A	uc001kqb.4	-	6	1479	c.862C>T	c.(862-864)Ctt>Ttt	p.L288F	COX15_uc001kqc.4_Missense_Mutation_p.L288F|COX15_uc010qpj.2_Missense_Mutation_p.L109F	NM_078470	NP_510870	Q7KZN9	COX15_HUMAN	Homo sapiens COX15 homolog, cytochrome c oxidase assembly protein (yeast) (COX15), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	288					heme a biosynthetic process|respiratory chain complex IV assembly|respiratory gaseous exchange	integral to membrane|mitochondrial respiratory chain	cytochrome-c oxidase activity			endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Colorectal(252;0.234)		Epithelial(162;3.08e-10)|all cancers(201;2.43e-08)		TTATAAACAAGCCCAGCATCT	0.433000														70			5		0	0	1	0	0
USP46	64854	broad.mit.edu	37	4	53494205	53494205	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:53494205C>T	uc003gzn.3	-	2	428	c.243G>A	c.(241-243)gcG>gcA	p.A81A	USP46_uc003gzm.4_Silent_p.A74A|USP46_uc011bzr.2_Silent_p.A58A|USP46_uc011bzs.2_5'UTR	NM_022832	NP_073743	P62068	UBP46_HUMAN	Homo sapiens ubiquitin specific peptidase 46 (USP46), transcript variant 1, mRNA.	81			A -> V (in dbSNP:rs17475800).		behavior|protein deubiquitination|regulation of synaptic transmission, GABAergic|ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)	12			LUSC - Lung squamous cell carcinoma(32;0.0295)			GGAAAAGGTCCGCCAGGCACG	0.493000														20			12		0	0	1	0	0
GLDC	2731	broad.mit.edu	37	9	6540085	6540085	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:6540085C>T	uc003zkc.3	-	21	2824	c.2631G>A	c.(2629-2631)gaG>gaA	p.E877E		NM_000170	NP_000161	P23378	GCSP_HUMAN	Homo sapiens glycine dehydrogenase (decarboxylating) (GLDC), nuclear gene encoding mitochondrial protein, mRNA.	877					glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding			cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	CATCCACAGCCTCAATATTTG	0.458000														50			30		0	0	1	0	0
TSSK2	23617	broad.mit.edu	37	22	19118978	19118978	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:19118978C>A	uc002zow.2	+	0	658	c.66C>A	c.(64-66)tcC>tcA	p.S22S	DGCR14_uc002zou.3_3'UTR	NM_053006	NP_443732	Q96PF2	TSSK2_HUMAN	Homo sapiens testis-specific serine kinase 2 (TSSK2), mRNA.	22	Protein kinase.				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(2)|lung(2)|prostate(4)|stomach(1)	11	Colorectal(54;0.0993)					GCAAGGGTTCCTACGCAAAAG	0.517000														20			15		0.00244969	0.00257145	1	1	0
FMO4	2329	broad.mit.edu	37	1	171310771	171310771	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:171310771G>T	uc001gho.3	+	9	1687	c.1470G>T	c.(1468-1470)tgG>tgT	p.W490C		NM_002022	NP_002013	P31512	FMO4_HUMAN	Homo sapiens flavin containing monooxygenase 4 (FMO4), mRNA.	490					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	NADP binding|flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					TGACCCAGTGGGACAGAACAT	0.488000														49			11		3.86212e-05	4.23294e-05	1	1	0
SEMA3A	10371	broad.mit.edu	37	7	83592606	83592606	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:83592606C>A	uc003uhz.3	-	15	2090	c.1775G>T	c.(1774-1776)aGc>aTc	p.S592I		NM_006080	NP_006071	Q14563	SEM3A_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A (SEMA3A), mRNA.	592	Ig-like C2-type.				axon guidance	extracellular region|membrane	receptor activity			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						CAAAAATGTGCTACTATTCTC	0.438000														125			9		0.307466	0.308579	1	1	0
AIM1	202	broad.mit.edu	37	6	107000063	107000063	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:107000063C>A	uc003prh.3	+	12	5132	c.4220C>A	c.(4219-4221)tCt>tAt	p.S1407Y	AIM1_uc003pri.3_Missense_Mutation_p.S211Y	NM_001624	NP_001615	Q9Y4K1	AIM1_HUMAN	Homo sapiens absent in melanoma 1 (AIM1), mRNA.	1407							sugar binding			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		TTTTAGGATTCTTTCACTGGC	0.279000														19			3		6.4e-05	6.99953e-05	1	1	0
CERS5	91012	broad.mit.edu	37	12	50524405	50524405	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:50524405G>A	uc001rwd.4	-	9	1119	c.1102C>T	c.(1102-1104)Ccc>Tcc	p.P368S	CERS5_uc001rwc.3_3'UTR|CERS5_uc001rwe.4_Missense_Mutation_p.P309S|CERS5_uc001rwf.4_Non-coding_Transcript	NM_147190	NP_671723	Q8N5B7	CERS5_HUMAN	Homo sapiens ceramide synthase 5 (CERS5), mRNA.	368					ceramide biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity										CTGTCACAGGGACTTTTTGTG	0.517000														56			50		0	0	1	0	0
NRG1	3084	broad.mit.edu	37	8	32585588	32585588	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:32585588C>T	uc003xiv.2	+	5	1141	c.624C>T	c.(622-624)taC>taT	p.Y208Y	NRG1_uc022ats.1_Silent_p.Y153Y|NRG1_uc003xip.3_Silent_p.Y389Y|NRG1_uc003xir.3_Silent_p.Y208Y|NRG1_uc010lvl.3_Silent_p.Y191Y|NRG1_uc010lvm.3_Silent_p.Y174Y|NRG1_uc010lvn.3_Silent_p.Y174Y|NRG1_uc003xis.3_Silent_p.Y208Y|NRG1_uc011lbf.1_Silent_p.Y208Y|NRG1_uc010lvo.2_Silent_p.Y208Y|NRG1_uc003xiu.2_Silent_p.Y208Y|NRG1_uc003xiw.2_Silent_p.Y208Y|NRG1_uc003xit.2_Silent_p.Y208Y|NRG1_uc010lvr.2_5'UTR|NRG1_uc010lvs.2_5'UTR|NRG1_uc010lvp.2_Silent_p.Y157Y|NRG1_uc010lvq.2_Silent_p.Y133Y|NRG1_uc003xix.3_Silent_p.Y98Y|NRG1_uc003xiy.3_Silent_p.Y263Y|NRG1_uc011lbg.1_Silent_p.Y54Y|NRG1_uc011lbh.1_Silent_p.Y54Y|NRG1_uc003xiz.1_Non-coding_Transcript|NRG1_uc003xja.2_Silent_p.Y11Y	NM_013964	NP_039258	Q02297	NRG1_HUMAN	Homo sapiens neuregulin 1 (NRG1), transcript variant HRG-alpha, mRNA.	208	EGF-like.				Notch signaling pathway|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	ErbB-3 class receptor binding|cytokine activity|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		CCTCGAGATACTTGTGCAAGT	0.403000														61			35		0	0	1	0	0
MED13L	23389	broad.mit.edu	37	12	116418589	116418589	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:116418589G>A	uc001tvw.3	-	22	5385	c.5330C>T	c.(5329-5331)gCa>gTa	p.A1777V		NM_015335	NP_056150	Q71F56	MD13L_HUMAN	Homo sapiens mediator complex subunit 13-like (MED13L), mRNA.	1777					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		AATGCTGGCTGCAGGCCCAAA	0.443000														100			35		0	0	1	0	0
PSMB8	5696	broad.mit.edu	37	6	32810845	32810845	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:32810845G>T	uc003oce.3	-	1	212	c.169C>A	c.(169-171)Ctg>Atg	p.L57M	PSMB8_uc003ocf.3_Missense_Mutation_p.L53M|PSMB8_uc011dqh.2_Missense_Mutation_p.L57M|LOC100507463_uc021ywa.1_5'Flank|LOC100507463_uc021ywb.1_5'Flank|LOC100507463_uc021ywc.1_5'Flank|LOC100507463_uc021ywd.1_5'Flank	NM_148919	NP_683720	P28062	PSB8_HUMAN	Homo sapiens proteasome (prosome, macropain) subunit, beta type, 8 (large multifunctional peptidase 7) (PSMB8), transcript variant 2, mRNA.	57					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|interspecies interaction between organisms|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|type I interferon-mediated signaling pathway|viral reproduction	cytoplasm|nucleus|proteasome core complex	protein binding|threonine-type endopeptidase activity			NS(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	11						TCCCCACCCAGGGACTGGAAG	0.488000														30			5		2.0095e-06	2.27092e-06	1	1	0
FAM57A	79850	broad.mit.edu	37	17	641146	641146	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:641146C>T	uc002frp.3	+	2	308	c.267C>T	c.(265-267)taC>taT	p.Y89Y	FAM57A_uc002frq.3_Silent_p.Y89Y|FAM57A_uc002frr.3_5'UTR	NM_024792	NP_079068	Q8TBR7	FA57A_HUMAN	Homo sapiens family with sequence similarity 57, member A (FAM57A), mRNA.	89	TLC.					integral to membrane|plasma membrane				cervix(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2)|urinary_tract(2)	10				UCEC - Uterine corpus endometrioid carcinoma (25;0.0217)		ATGACTCGTACGCCATGTACC	0.502000														96			45		0	0	1	0	0
POLR3C	10623	broad.mit.edu	37	1	145595181	145595181	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:145595181A>C	uc001eog.3	-	11	1343	c.1300T>G	c.(1300-1302)Ttc>Gtc	p.F434V	POLR3C_uc001eoh.3_Missense_Mutation_p.F421V|POLR3C_uc009wix.3_Intron	NM_006468	NP_006459	Q9BUI4	RPC3_HUMAN	Homo sapiens polymerase (RNA) III (DNA directed) polypeptide C (62kD) (POLR3C), mRNA.	421					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|regulation of transcription from RNA polymerase III promoter|response to virus	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity	p.R433R(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		Epithelial(2;7.55e-13)			TATAAATAGAAGGTCCTGGAT	0.423000														146			14		0	0	1	0	0
ZNF662	389114	broad.mit.edu	37	3	42956626	42956626	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:42956626A>G	uc003cmk.2	+	3	1325	c.1139A>G	c.(1138-1140)cAc>cGc	p.H380R	ZNF662_uc003cmi.2_Missense_Mutation_p.H354R|ZNF662_uc003cmj.2_Missense_Mutation_p.H246R	NM_001134656	NP_001128128	Q6ZS27	ZN662_HUMAN	Homo sapiens zinc finger protein 662 (ZNF662), transcript variant 2, mRNA.	354					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R380K(1)		breast(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.217)		CAGAGGGTCCACACTGGGGAC	0.488000														24			27		0	0	1	0	0
AMOTL2	51421	broad.mit.edu	37	3	134085261	134085261	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:134085261G>A	uc003eqf.2	-	3	1341	c.1224C>T	c.(1222-1224)agC>agT	p.S408S	AMOTL2_uc003eqg.1_Silent_p.S350S|AMOTL2_uc003eqh.1_Silent_p.S350S|AMOTL2_uc003eqe.1_5'UTR	NM_016201	NP_057285	Q9Y2J4	AMOL2_HUMAN	Homo sapiens angiomotin like 2 (AMOTL2), mRNA.	350										endometrium(8)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	19						GCTGGATTTCGCTTTCCAGCT	0.562000														64			6		0	0	1	0	0
SPDYC	387778	broad.mit.edu	37	11	64940338	64940338	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:64940338T>C	uc010rnz.2	+	5	700	c.700T>C	c.(700-702)Tca>Cca	p.S234P		NM_001008778	NP_001008778	Q5MJ68	SPDYC_HUMAN	Homo sapiens speedy homolog C (Xenopus laevis) (SPDYC), mRNA.	234					cell cycle	nucleus	protein kinase binding	p.V233M(1)		breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)	16						TAAGCCTGTGTCATCCAAGTG	0.597000														62			14		0	0	1	0	0
TAF15	8148	broad.mit.edu	37	17	34172001	34172001	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:34172001C>T	uc002hkd.3	+	14	1784	c.1698C>T	c.(1696-1698)taC>taT	p.Y566Y	TAF15_uc002hkc.3_Silent_p.Y563Y	NM_139215	NP_631961	Q92804	RBP56_HUMAN	Homo sapiens TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa (TAF15), transcript variant 1, mRNA.	566	21 X approximate tandem repeats of D-R- [S,G](0,3)-G-G-Y-G-G.|Arg/Gly-rich.				positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|RNA binding|nucleotide binding|protein binding|zinc ion binding		TAF15/NR4A3(33)	lung(1)|ovary(1)|skin(2)|stomach(1)	5		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		GTGGGGGCTACGGAGGAGACC	0.552000			T	"""TEC, CHN1, ZNF384"""	"""extraskeletal myxoid chondrosarcomas, ALL"""									116			11		0	0	1	0	0
CCDC170	80129	broad.mit.edu	37	6	151939260	151939260	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:151939260G>A	uc003qol.3	+	10	2215	c.2126G>A	c.(2125-2127)gGc>gAc	p.G709D	U6_uc021zgw.1_5'Flank	NM_025059	NP_079335	Q8IYT3	CF097_HUMAN	Homo sapiens chromosome 6 open reading frame 97 (C6orf97), mRNA.	709																	CACCCACAAGGCCATTTACAG	0.443000														36			25		0	0	1	0	0
DPAGT1	1798	broad.mit.edu	37	11	118971440	118971440	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:118971440G>T	uc001pvi.3	-	2	816	c.396C>A	c.(394-396)gcC>gcA	p.A132A	DPAGT1_uc001pvj.3_Silent_p.A25A|DPAGT1_uc001pvk.3_Intron|DPAGT1_uc001pvm.1_Silent_p.A25A|DPAGT1_uc010rza.2_Silent_p.A25A	NM_001382	NP_001373	Q9H3H5	GPT_HUMAN	Homo sapiens dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase) (DPAGT1), mRNA.	132					dolichol biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein oligomerization	integral to endoplasmic reticulum membrane|microsome	UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity|phospho-N-acetylmuramoyl-pentapeptide-transferase activity|transferase activity, transferring glycosyl groups			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	17	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)		GAGGTAGTGAGGCAGCTGTAG	0.552000											OREG0021396	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		30			9		5.4927e-09	6.49148e-09	1	1	0
ZNF613	79898	broad.mit.edu	37	19	52448197	52448197	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:52448197G>A	uc002pxz.2	+	5	1525	c.1061G>A	c.(1060-1062)cGc>cAc	p.R354H	ZNF613_uc002pya.2_Missense_Mutation_p.R318H	NM_001031721	NP_079116	Q6PF04	ZN613_HUMAN	Homo sapiens zinc finger protein 613 (ZNF613), transcript variant 1, mRNA.	354					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)		AAAGCATTCCGCTGGAAATCA	0.458000														48			44		0	0	1	0	0
IKZF3	22806	broad.mit.edu	37	17	37922061	37922061	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:37922061G>A	uc002hsu.3	-	7	1574	c.1512C>T	c.(1510-1512)caC>caT	p.H504H	IKZF3_uc002htd.3_Silent_p.H470H|IKZF3_uc010cwd.3_Silent_p.H361H|IKZF3_uc002hsv.3_Silent_p.H431H|IKZF3_uc010cwe.3_Silent_p.H370H|IKZF3_uc010cwf.3_Silent_p.H322H|IKZF3_uc010cwg.3_Silent_p.H283H|IKZF3_uc002hsw.3_Silent_p.H465H|IKZF3_uc002hsx.3_Silent_p.H448H|IKZF3_uc002hsy.3_Silent_p.H465H|IKZF3_uc002hsz.3_Silent_p.H409H|IKZF3_uc002hta.3_Silent_p.H426H|IKZF3_uc002htb.3_Non-coding_Transcript|IKZF3_uc010cwh.3_Silent_p.H417H|IKZF3_uc002htc.3_Silent_p.H257H|IKZF3_uc010wel.2_Silent_p.H257H	NM_012481	NP_036613	Q9UKT9	IKZF3_HUMAN	Homo sapiens IKAROS family zinc finger 3 (Aiolos) (IKZF3), transcript variant 1, mRNA.	504					B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			GCAGGGCTCTGTGTTCTCCTC	0.483000														71			10		0	0	1	0	0
EHD3	30845	broad.mit.edu	37	2	31467293	31467293	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:31467293C>A	uc002rnu.3	+	1	989	c.381C>A	c.(379-381)gcC>gcA	p.A127A	EHD3_uc010ymt.2_Silent_p.A127A	NM_014600	NP_055415	Q9NZN3	EHD3_HUMAN	Homo sapiens EH-domain containing 3 (EHD3), mRNA.	127					blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|GTP binding|GTPase activity|calcium ion binding|nucleic acid binding|protein binding	p.N126N(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					AACTCAACGCCTTTGGCAACG	0.532000														44			5		2.0095e-06	2.27092e-06	1	1	0
MARCH10	162333	broad.mit.edu	37	17	60813930	60813930	+	Silent	SNP	G	T	T	rs147951735	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:60813930G>T	uc010dds.3	-	6	1698	c.1413C>A	c.(1411-1413)acC>acA	p.T471T	MARCH10_uc010ddr.3_Silent_p.T433T|MARCH10_uc002jag.4_Silent_p.T433T|MARCH10_uc002jah.2_Silent_p.T432T|BC037347_uc002jaj.1_Non-coding_Transcript|BC037347_uc002jak.3_Non-coding_Transcript	NM_152598	NP_689811	Q8NA82	MARHA_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 10 (MARCH10), transcript variant 1, mRNA.	433							ligase activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						CAGAATCATGGGTGCCAGGCC	0.418000														107			6		0.0293803	0.0299714	1	1	0
ITGA2	3673	broad.mit.edu	37	5	52376351	52376351	+	Missense_Mutation	SNP	G	T	T	rs35513357		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:52376351G>T	uc003joy.3	+	24	3082	c.2939G>T	c.(2938-2940)gGa>gTa	p.G980V	ITGA2_uc011cqa.2_Non-coding_Transcript|ITGA2_uc011cqb.2_Non-coding_Transcript|ITGA2_uc011cqc.2_Missense_Mutation_p.G904V|ITGA2_uc011cqd.2_Non-coding_Transcript|ITGA2_uc011cqe.2_Non-coding_Transcript	NM_002203	NP_002194	P17301	ITA2_HUMAN	Homo sapiens integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor) (ITGA2), mRNA.	980					axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				GTAACAACAGGAAGTGTTCCA	0.438000														40			21		2.4624e-09	2.92908e-09	1	1	0
OR5F1	338674	broad.mit.edu	37	11	55762081	55762081	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:55762081G>T	uc010riv.2	-	0	21	c.21C>A	c.(19-21)acC>acA	p.T7T		NM_003697	NP_003688	O95221	OR5F1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily F, member 1 (OR5F1), mRNA.	7					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					CAGTCAGTGAGGTATAATTTT	0.308000														77			5		3.59834e-05	3.95114e-05	1	1	0
BIRC6	57448	broad.mit.edu	37	2	32735686	32735686	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:32735686C>A	uc010ezu.3	+	52	10465	c.10331C>A	c.(10330-10332)cCt>cAt	p.P3444H		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	Homo sapiens baculoviral IAP repeat containing 6 (BIRC6), mRNA.	3444					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					ACTCAGGATCCTGGTACAAAA	0.338000														117			9		0.000442599	0.000473562	1	1	0
SLC6A14	11254	broad.mit.edu	37	X	115569065	115569065	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:115569065C>T	uc004eqi.3	+	1	287	c.156C>T	c.(154-156)taC>taT	p.Y52Y	SLC6A14_uc011mtm.2_Non-coding_Transcript	NM_007231	NP_009162	Q9UN76	S6A14_HUMAN	Homo sapiens solute carrier family 6 (amino acid transporter), member 14 (SLC6A14), mRNA.	52					cellular amino acid metabolic process|response to toxin	integral to membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23					L-Proline(DB00172)	TGATTGGATACGCAGTGGGAT	0.453000														71			51		0	0	1	0	0
MYPN	84665	broad.mit.edu	37	10	69966569	69966569	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:69966569G>A	uc001jnm.4	+	19	3887	c.3702G>A	c.(3700-3702)caG>caA	p.Q1234Q	MYPN_uc001jnn.4_Silent_p.Q959Q|MYPN_uc001jno.4_Silent_p.Q1234Q|MYPN_uc009xpt.3_Silent_p.Q1234Q|MYPN_uc010qit.2_Silent_p.Q940Q|MYPN_uc010qiu.2_Non-coding_Transcript	NM_032578	NP_115967	Q86TC9	MYPN_HUMAN	Homo sapiens myopalladin (MYPN), transcript variant 1, mRNA.	1234	Ig-like 5.|Interaction with ACTN.					nucleus|sarcomere	actin binding			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						TTCTCATTCAGCCAGCCAAGA	0.483000														68			45		0	0	1	0	0
PPP4R1	9989	broad.mit.edu	37	18	9559476	9559476	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:9559476C>T	uc002koe.1	-	13	2087	c.1969G>A	c.(1969-1971)Gga>Aga	p.G657R	PPP4R1_uc002kof.2_Missense_Mutation_p.G74R|PPP4R1_uc010wzo.1_Missense_Mutation_p.G503R|PPP4R1_uc002kod.1_Missense_Mutation_p.G640R|PPP4R1_uc010wzp.1_Non-coding_Transcript	NM_001042388	NP_001035847	Q8TF05	PP4R1_HUMAN	Homo sapiens protein phosphatase 4, regulatory subunit 1 (PPP4R1), transcript variant 1, mRNA.	657					protein phosphorylation|signal transduction	protein phosphatase 4 complex	protein binding|protein phosphatase type 4 regulator activity			large_intestine(1)|skin(2)	3						TTCTGTCTTCCGAGTGTCAAG	0.483000														142			101		0	0	1	0	0
NFIL3	4783	broad.mit.edu	37	9	94172307	94172307	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:94172307C>T	uc022bjt.1	-	0	710	c.710G>A	c.(709-711)gGc>gAc	p.G237D	NFIL3_uc004arh.3_Missense_Mutation_p.G237D	NM_005384	NP_005375	Q16649	NFIL3_HUMAN	Homo sapiens nuclear factor, interleukin 3 regulated (NFIL3), mRNA.	237					circadian rhythm|immune response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	16						TGTGTAAGAGCCTCGGTCATC	0.488000														42			32		0	0	1	0	0
SLC38A9	153129	broad.mit.edu	37	5	54929684	54929684	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:54929684G>A	uc003jqf.2	-	13	1920	c.1328C>T	c.(1327-1329)gCa>gTa	p.A443V	SLC38A9_uc003jqd.2_Missense_Mutation_p.A380V|SLC38A9_uc010ivx.2_Missense_Mutation_p.A380V|SLC38A9_uc003jqe.2_Intron|SLC38A9_uc010ivy.2_Missense_Mutation_p.A314V	NM_173514	NP_775785	Q8NBW4	S38A9_HUMAN	Homo sapiens solute carrier family 38, member 9 (SLC38A9), mRNA.	443					amino acid transport|sodium ion transport	integral to membrane				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8		Lung NSC(810;0.00122)|Prostate(74;0.0376)|Breast(144;0.181)				GAATATCCTTGCAATGAAGGA	0.413000														23			18		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61932131	61932131	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:61932131G>A	uc001jky.3	-	20	2751	c.2413C>T	c.(2413-2415)Cgc>Tgc	p.R805C	ANK3_uc001jkx.3_5'UTR|ANK3_uc010qih.2_Missense_Mutation_p.R788C|ANK3_uc001jkz.4_Missense_Mutation_p.R799C|ANK3_uc001jlb.1_Missense_Mutation_p.R334C|ANK3_uc001jlc.1_Missense_Mutation_p.R466C	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	805					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TAGCCGAGGCGCCGGGCAATG	0.458000														27			10		0	0	1	0	0
EXOC4	60412	broad.mit.edu	37	7	133749118	133749118	+	Missense_Mutation	SNP	C	T	T	rs149542788	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:133749118C>T	uc003vrk.3	+	17	2797	c.2762C>T	c.(2761-2763)aCg>aTg	p.T921M	EXOC4_uc011kpo.2_Missense_Mutation_p.T820M|EXOC4_uc003vrl.3_Missense_Mutation_p.T531M|EXOC4_uc011kpp.2_Missense_Mutation_p.T453M|EXOC4_uc011kpq.2_Missense_Mutation_p.T209M	NM_021807	NP_068579	Q96A65	EXOC4_HUMAN	Homo sapiens exocyst complex component 4 (EXOC4), transcript variant 1, mRNA.	921					vesicle docking involved in exocytosis	exocyst	protein N-terminus binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				GTGAAGTACACGGAGCTGGAG	0.572000														31			14		0	0	1	0	0
TRRAP	8295	broad.mit.edu	37	7	98524833	98524833	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:98524833T>C	uc003upp.3	+	22	3228	c.3019T>C	c.(3019-3021)Tac>Cac	p.Y1007H	TRRAP_uc011kis.2_Missense_Mutation_p.Y1007H|TRRAP_uc003upr.3_Missense_Mutation_p.Y699H	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.	1007					histone H2A acetylation|histone H4 acetylation|histone deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CTCACATCGCTACAAAGCCCA	0.542000														63			8		0	0	1	0	0
ABTB2	25841	broad.mit.edu	37	11	34218941	34218941	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:34218941C>T	uc001mvl.2	-	2	1600	c.1175G>A	c.(1174-1176)cGg>cAg	p.R392Q		NM_145804	NP_665803	A8K6S9	A8K6S9_HUMAN	Homo sapiens ankyrin repeat and BTB (POZ) domain containing 2 (ABTB2), mRNA.	206							DNA binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)				CTGTGGACACCGCAGAAAGTA	0.642000														33			11		0	0	1	0	0
FLNB	2317	broad.mit.edu	37	3	58139357	58139357	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:58139357C>T	uc003djj.2	+	38	6788	c.6623C>T	c.(6622-6624)gCg>gTg	p.A2208V	FLNB_uc010hne.2_Missense_Mutation_p.A2239V|FLNB_uc003djk.2_Missense_Mutation_p.A2197V|FLNB_uc010hnf.2_Missense_Mutation_p.A2184V|FLNB_uc003djl.2_Missense_Mutation_p.A2028V|FLNB_uc003djm.2_Missense_Mutation_p.A2015V|FLNB_uc010hng.1_Non-coding_Transcript	NM_001457	NP_001448	O75369	FLNB_HUMAN	Homo sapiens filamin B, beta (FLNB), transcript variant 2, mRNA.	2208	Interaction with FLNA 1.|Interaction with INPPL1.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding	p.A2208V(2)|p.A2239V(1)		NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		AGAGGAGAAGCGGGAGTCCCA	0.607000														15			8		0	0	1	0	0
SLC5A8	160728	broad.mit.edu	37	12	101588872	101588872	+	Splice_Site	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:101588872C>A	uc001thz.4	-	4	927	c.537_splice	c.e4+1	p.L179_splice		NM_145913	NP_666018	Q8N695	SC5A8_HUMAN	Homo sapiens solute carrier family 5 (iodide transporter), member 8 (SLC5A8), mRNA.	179					apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CCTGGACGTACCAGTGTGCAG	0.428000														9			10		0.00829132	0.00860413	1	1	0
TARBP1	6894	broad.mit.edu	37	1	234556471	234556471	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:234556471C>A	uc001hwd.3	-	20	3532	c.3532G>T	c.(3532-3534)Gta>Tta	p.V1178L		NM_005646	NP_005637	Q13395	TARB1_HUMAN	Homo sapiens TAR (HIV-1) RNA binding protein 1 (TARBP1), mRNA.	1178					RNA processing|regulation of transcription from RNA polymerase II promoter	nucleus	RNA binding|RNA methyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			GGGAAAAGTACCAGCAGAGTC	0.368000														77			11		9.05144e-12	1.10939e-11	1	1	0
NDUFA10	4705	broad.mit.edu	37	2	240961658	240961658	+	Missense_Mutation	SNP	C	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:240961658C>G	uc010fzc.2	-	1	276	c.175G>C	c.(175-177)Gtg>Ctg	p.V59L	NDUFA10_uc002vyn.3_Missense_Mutation_p.V59L|NDUFA10_uc002vyo.2_Missense_Mutation_p.V59L|NDUFA10_uc002vyp.3_Missense_Mutation_p.V59L	NM_004544	NP_004535	O95299	NDUAA_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa (NDUFA10), nuclear gene encoding mitochondrial protein, mRNA.	59					mitochondrial electron transport, NADH to ubiquinone|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transport	mitochondrial matrix|mitochondrial respiratory chain complex I	ATP binding|NADH dehydrogenase (ubiquinone) activity|phosphotransferase activity, alcohol group as acceptor			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)	16		all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202)	NADH(DB00157)	ACAGTTATCACTCTGCTGCGT	0.403000														48			30		0	0	1	0	0
RHD	6007	broad.mit.edu	37	1	25611236	25611236	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:25611236C>A	uc009vro.3	+	1	379	c.321C>A	c.(319-321)gtC>gtA	p.V107V	C1orf63_uc021ojj.1_Intron|RHD_uc010oep.2_Silent_p.V107V|RHD_uc001bjz.3_Silent_p.V107V|RHD_uc001bkc.3_Silent_p.V107V|RHD_uc009vrm.3_5'UTR|RHD_uc001bka.3_Silent_p.V107V|RHD_uc001bkb.3_Silent_p.V107V|RHD_uc009vrn.3_Silent_p.V107V|RHD_uc009vrp.3_Silent_p.V107V			Q02161	RHD_HUMAN	Homo sapiens Rh blood group, D antigen (RHD), transcript variant 1, mRNA.	107						integral to plasma membrane				breast(2)|large_intestine(4)|lung(7)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.39e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000332)|BRCA - Breast invasive adenocarcinoma(304;0.000438)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000908)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GGAAGGTGGTCATCACACTGT	0.557000														22			7		1	1	1	1	0
NFKBIZ	64332	broad.mit.edu	37	3	101572669	101572669	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:101572669C>T	uc003dvp.3	+	4	1414	c.1299C>T	c.(1297-1299)tcC>tcT	p.S433S	NFKBIZ_uc003dvo.3_Silent_p.S333S|NFKBIZ_uc010hpo.3_Silent_p.S333S|NFKBIZ_uc003dvq.3_Silent_p.S311S	NM_031419	NP_001005474	Q9BYH8	IKBZ_HUMAN	Homo sapiens nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta (NFKBIZ), transcript variant 1, mRNA.	433	Interaction with NFKB1/p50 (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						CAAATATTTCCCAAGACCAGT	0.408000														37			19		0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228524811	228524811	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:228524811G>A	uc009xez.1	+	64	16688	c.16644G>A	c.(16642-16644)tcG>tcA	p.S5548S	OBSCN_uc001hsn.3_Silent_p.S5548S|OBSCN_uc001hsr.1_Silent_p.S176S	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	5548					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	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase 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)				AGATGGTATCGGCCAAGATCA	0.642000														31			17		0	0	1	0	0
MLH3	27030	broad.mit.edu	37	14	75514329	75514329	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:75514329G>A	uc001xrd.1	-	1	2246	c.2030C>T	c.(2029-2031)aCg>aTg	p.T677M	MLH3_uc001xre.1_Missense_Mutation_p.T677M|MLH3_uc010tuy.1_Non-coding_Transcript	NM_001040108	NP_001035197	Q9UHC1	MLH3_HUMAN	Homo sapiens mutL homolog 3 (E. coli) (MLH3), transcript variant 1, mRNA.	677					mismatch repair|reciprocal meiotic recombination	MutLbeta complex|chiasma|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		ACTTATATTCGTTCTGCAATT	0.343000								Mismatch excision repair (MMR)						52			38		0	0	1	0	0
C1QA	712	broad.mit.edu	37	1	22965517	22965517	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:22965517G>A	uc001bfy.3	+	2	440	c.355G>A	c.(355-357)Gcc>Acc	p.A119T		NM_015991	NP_057075	P02745	C1QA_HUMAN	Homo sapiens complement component 1, q subcomponent, A chain (C1QA), mRNA.	119	C1q.				cell-cell signaling|complement activation, classical pathway|innate immune response	collagen|complement component C1 complex				autonomic_ganglia(1)|liver(1)|lung(3)|skin(1)	6		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.41e-27)|Colorectal(126;1.52e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.63e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000541)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	AGCCTTCTCCGCCATTCGGCG	0.637000														8			9		0	0	1	0	0
ITGAX	3687	broad.mit.edu	37	16	31367254	31367254	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:31367254G>A	uc002ebt.3	+	1	145	c.78G>A	c.(76-78)gaG>gaA	p.E26E	ITGAX_uc010cao.1_Silent_p.E26E|ITGAX_uc002ebu.1_Silent_p.E26E	NM_000887	NP_000878	P20702	ITAX_HUMAN	Homo sapiens integrin, alpha X (complement component 3 receptor 4 subunit) (ITGAX), mRNA.	26					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						ACACAGAGGAGCTGACAGCCT	0.577000														134			98		0	0	1	0	0
NF1	4763	broad.mit.edu	37	17	29587487	29587487	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:29587487C>T	uc002hgg.3	+	33	4914	c.4531C>T	c.(4531-4533)Ctc>Ttc	p.L1511F	NF1_uc002hgh.3_Missense_Mutation_p.L1490F|NF1_uc002hgi.1_Missense_Mutation_p.L523F	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	1511					MAPKKK cascade|Ras protein signal transduction|actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	Ras GTPase activator activity|protein binding	p.0?(8)|p.?(4)|p.L1510fs*64(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		ACATCGTCTACTCTGGAACAA	0.393000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				100			59		0	0	1	0	0
RBMX	27316	broad.mit.edu	37	X	135957742	135957742	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:135957742G>A	uc004fae.2	-	5	754	c.544C>T	c.(544-546)Cct>Tct	p.P182S	RBMX_uc011mwf.1_Silent_p.L73L|RBMX_uc004fad.1_Missense_Mutation_p.P182S|RBMX_uc011mwg.2_Missense_Mutation_p.P143S|RBMX_uc004faf.2_Missense_Mutation_p.P43S	NM_002139	NP_002130	P38159	HNRPG_HUMAN	Homo sapiens RNA binding motif protein, X-linked (RBMX), transcript variant 1, mRNA.	182						catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	RNA binding|nucleotide binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|urinary_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					CGTGATACAGGAGCTTAAGGA	0.388000														47			38		0	0	1	0	0
POLI	11201	broad.mit.edu	37	18	51818404	51818404	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:51818404G>T	uc002lfj.4	+	8	1468	c.1400G>T	c.(1399-1401)aGt>aTt	p.S467I	POLI_uc010xds.2_Missense_Mutation_p.S388I|POLI_uc002lfk.4_Missense_Mutation_p.S364I|POLI_uc010dpg.3_Missense_Mutation_p.S63I	NM_007195	NP_009126	Q9UNA4	POLI_HUMAN	Homo sapiens polymerase (DNA directed) iota (POLI), mRNA.	467					DNA repair|DNA replication	nucleoplasm	DNA-directed DNA polymerase activity|damaged DNA binding|metal ion binding|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(5)|ovary(3)|urinary_tract(1)	26				Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197)		GGCAAGCACAGTTTTGTAAGT	0.333000								DNA polymerases (catalytic subunits)						50			25		6.32553e-13	7.83728e-13	1	1	0
LRP1	4035	broad.mit.edu	37	12	57589899	57589899	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57589899C>A	uc001snd.3	+	54	9197	c.8731C>A	c.(8731-8733)Ctg>Atg	p.L2911M		NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	2911	LDL-receptor class A 20.				aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GTCACAGTTCCTGTGCAGCAG	0.662000														45			7		0.00307968	0.00322291	1	1	0
MAN2B2	23324	broad.mit.edu	37	4	6610849	6610849	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:6610849G>A	uc003gjf.1	+	11	1866	c.1830G>A	c.(1828-1830)acG>acA	p.T610T	MAN2B2_uc003gje.1_Silent_p.T610T|MAN2B2_uc011bwf.1_Silent_p.T559T	NM_015274	NP_056089	Q9Y2E5	MA2B2_HUMAN	Homo sapiens mannosidase, alpha, class 2B, member 2 (MAN2B2), mRNA.	610					mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding	p.T610T(2)|p.T610M(1)		breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						GTAACCGAACGGTGCGCGTGA	0.567000														17			3		0	0	1	0	0
NOTCH1	4851	broad.mit.edu	37	9	139397687	139397687	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:139397687G>A	uc004chz.3	-	26	5114	c.5114C>T	c.(5113-5115)gCg>gTg	p.A1705V	NOTCH1_uc004cia.1_Missense_Mutation_p.A935V	NM_017617	NP_060087	P46531	NOTC1_HUMAN	Homo sapiens notch 1 (NOTCH1), mRNA.	1705					Notch receptor processing|aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.G1705*(1)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CGAGGCGAGCGCTCCCAGGAA	0.647000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)				26			7		0	0	1	0	0
ZNF615	284370	broad.mit.edu	37	19	52497775	52497775	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:52497775G>T	uc002pyf.2	-	6	904	c.587C>A	c.(586-588)cCt>cAt	p.P196H	AK128361_uc021uys.1_5'Flank|ZNF615_uc002pye.2_Missense_Mutation_p.P185H|ZNF615_uc002pyh.2_Missense_Mutation_p.P196H|ZNF615_uc010epi.2_Missense_Mutation_p.P192H|ZNF615_uc002pyg.2_Missense_Mutation_p.P77H|ZNF615_uc010ydg.2_Missense_Mutation_p.P190H	NM_001199324	NP_001186253	Q8N8J6	ZN615_HUMAN	Homo sapiens zinc finger protein 615 (ZNF615), transcript variant 1, mRNA.	185					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		CTTATTAATAGGTTTTGCAAT	0.373000														130			11		4.68919e-08	5.46558e-08	1	1	0
MTMR12	54545	broad.mit.edu	37	5	32268851	32268851	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:32268851C>T	uc003jhq.3	-	5	709	c.539G>A	c.(538-540)cGa>cAa	p.R180Q	MTMR12_uc010iuk.3_Missense_Mutation_p.R180Q|MTMR12_uc010iul.3_Missense_Mutation_p.R180Q	NM_001040446	NP_001035536	Q9C0I1	MTMRC_HUMAN	Homo sapiens myotubularin related protein 12 (MTMR12), mRNA.	180						cytoplasm	phosphatase activity	p.R180Q(2)		breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						CAGAAATAATCGTTTAAGCAG	0.378000														61			31		0	0	1	0	0
MTRF1	9617	broad.mit.edu	37	13	41814544	41814544	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:41814544T>C	uc010tff.2	-	6	981	c.762A>G	c.(760-762)cgA>cgG	p.R254R	MTRF1_uc001uxx.3_Silent_p.R241R|MTRF1_uc001uxy.3_Silent_p.R241R|MTRF1_uc001uxz.3_Silent_p.R77R|MTRF1_uc001uyc.1_Silent_p.R241R			O75570	RF1M_HUMAN	Homo sapiens mitochondrial translational release factor 1 (MTRF1), nuclear gene encoding mitochondrial protein, mRNA.	241					regulation of translational termination	mitochondrion	translation release factor activity, codon specific			breast(1)|endometrium(4)|large_intestine(3)|lung(6)	14		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)|Ovarian(182;0.125)		OV - Ovarian serous cystadenocarcinoma(117;4.24e-10)|all cancers(112;2.05e-09)|Epithelial(112;2.48e-09)|GBM - Glioblastoma multiforme(144;0.00115)|BRCA - Breast invasive adenocarcinoma(63;0.0721)|KIRC - Kidney renal clear cell carcinoma(186;0.248)		CACCGGAAATTCGGGCGGCTG	0.483000														26			12		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9049446	9049446	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9049446C>A	uc002mkp.3	-	4	32389	c.32185G>T	c.(32185-32187)Gtc>Ttc	p.V10729F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	10731	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						CCAGGTGAGACAGTCATAATT	0.458000														132			68		1.85257e-25	2.42537e-25	1	1	0
OR2V2	285659	broad.mit.edu	37	5	180582541	180582541	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:180582541T>C	uc011dhj.2	+	0	599	c.599T>C	c.(598-600)aTa>aCa	p.I200T		NM_206880	NP_996763	Q96R30	OR2V2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily V, member 2 (OR2V2), mRNA.	200					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GAGAAGGTGATATTTGCTTGC	0.483000														98			77		0	0	1	0	0
CNR1	1268	broad.mit.edu	37	6	88853609	88853609	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:88853609G>T	uc010kbz.3	-	1	1515	c.1385C>A	c.(1384-1386)tCt>tAt	p.S462Y	CNR1_uc011dzr.2_Missense_Mutation_p.S462Y|CNR1_uc011dzs.2_Missense_Mutation_p.S462Y|CNR1_uc003pmq.4_Missense_Mutation_p.S462Y|CNR1_uc011dzt.2_Missense_Mutation_p.S462Y|CNR1_uc010kca.3_Missense_Mutation_p.S429Y|CNR1_uc021zco.1_Missense_Mutation_p.S462Y	NM_016083	NP_057167	P21554	CNR1_HUMAN	Homo sapiens cannabinoid receptor 1 (brain) (CNR1), transcript variant 1, mRNA.	462					G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	TGTGGACACAGACATGGTTAC	0.502000														182			96		1.90054e-66	2.53588e-66	1	1	0
RNF6	6049	broad.mit.edu	37	13	26792679	26792679	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:26792679C>A	uc001uqo.3	-	3	603	c.258G>T	c.(256-258)caG>caT	p.Q86H	RNF6_uc001uqn.1_Missense_Mutation_p.Q86H|RNF6_uc001uqp.3_Missense_Mutation_p.Q86H|RNF6_uc001uqq.3_Missense_Mutation_p.Q86H|RNF6_uc010tdk.2_5'UTR	NM_183044	NP_898865	Q9Y252	RNF6_HUMAN	Homo sapiens ring finger protein (C3H2C3 type) 6 (RNF6), transcript variant 3, mRNA.	86					negative regulation of axon extension|positive regulation of transcription, DNA-dependent|protein K27-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|regulation of androgen receptor signaling pathway|ubiquitin-dependent protein catabolic process	PML body|axon|cytoplasm	androgen receptor binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(3)|ovary(2)|prostate(2)|skin(2)	23	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245)		TCAAGTCAGGCTGAGATGCTA	0.408000														79			37		1.32136e-16	1.67641e-16	1	1	0
C15orf44	81556	broad.mit.edu	37	15	65871755	65871755	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:65871755T>C	uc010uix.2	-	11	2044	c.1656A>G	c.(1654-1656)gaA>gaG	p.E552E	C15orf44_uc002apd.3_Silent_p.E516E|C15orf44_uc010uja.2_Silent_p.E498E|C15orf44_uc010ujb.2_Silent_p.E459E|C15orf44_uc002ape.4_Silent_p.E516E|C15orf44_uc010uiy.2_Silent_p.E437E|C15orf44_uc010uiz.2_Silent_p.E480E			Q96SY0	CO044_HUMAN	Homo sapiens chromosome 15 open reading frame 44 (C15orf44), transcript variant 3, non-coding RNA.	516										breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|urinary_tract(2)	12						TTCAAATTCTTTCAGTGCTGC	0.453000														58			45		0	0	1	0	0
NCS1	23413	broad.mit.edu	37	9	132980151	132980151	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:132980151G>A	uc004bzi.2	+	2	216	c.130G>A	c.(130-132)Gat>Aat	p.D44N	NCS1_uc010myz.1_Missense_Mutation_p.D26N	NM_014286	NP_055101	P62166	NCS1_HUMAN	Homo sapiens neuronal calcium sensor 1 (NCS1), transcript variant 1, mRNA.	44	EF-hand 1.				negative regulation of calcium ion transport via voltage-gated calcium channel activity|regulation of neuron projection development	Golgi cisterna membrane|cell junction|perinuclear region of cytoplasm|postsynaptic density|postsynaptic membrane	calcium ion binding|protein binding			large_intestine(1)|lung(4)|stomach(1)	6						TGGGCAGCTGGATGCGGCAGG	0.537000														48			41		0	0	1	0	0
LRP6	4040	broad.mit.edu	37	12	12288148	12288148	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:12288148T>C	uc001rah.4	-	16	3836	c.3694A>G	c.(3694-3696)Atg>Gtg	p.M1232V	BCL2L14_uc001raf.1_Intron|LRP6_uc010shl.1_Missense_Mutation_p.M1232V	NM_002336	NP_002327	O75581	LRP6_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 6 (LRP6), mRNA.	1232	EGF-like 4.				Wnt receptor signaling pathway involved in dorsal/ventral axis specification|cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	Wnt-protein binding|coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				ACCAGGTGCATGGGGCAAGAA	0.423000														100			10		0	0	1	0	0
NALCN	259232	broad.mit.edu	37	13	101763479	101763479	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:101763479C>T	uc001vox.1	-	18	2480	c.2291G>A	c.(2290-2292)cGc>cAc	p.R764H		NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	Homo sapiens sodium leak channel, non-selective (NALCN), mRNA.	764						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TATTTACCTGCGCTCTTGGCG	0.552000														101			67		0	0	1	0	0
UNC5CL	222643	broad.mit.edu	37	6	40996205	40996205	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:40996205C>T	uc003opi.3	-	8	1563	c.1464G>A	c.(1462-1464)caG>caA	p.Q488Q		NM_173561	NP_775832	Q8IV45	UN5CL_HUMAN	Homo sapiens unc-5 homolog C (C. elegans)-like (UNC5CL), mRNA.	488	Death.				signal transduction	cytoplasm|integral to membrane				endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					TCAGGTAGTTCTGGATGGCGG	0.667000											OREG0017423	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		17			11		0	0	1	0	0
DHODH	1723	broad.mit.edu	37	16	72046120	72046120	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:72046120G>A	uc002fbp.3	+	1	214	c.193G>A	c.(193-195)Ggg>Agg	p.G65R		NM_001361	NP_001352	Q02127	PYRD_HUMAN	Homo sapiens dihydroorotate dehydrogenase (quinone) (DHODH), nuclear gene encoding mitochondrial protein, mRNA.	65					'de novo' pyrimidine base biosynthetic process|UMP biosynthetic process|pyrimidine nucleoside biosynthetic process	integral to membrane|mitochondrial inner membrane	dihydroorotate oxidase activity	p.L64M(1)		breast(1)|endometrium(2)|large_intestine(4)|ovary(1)|skin(1)|stomach(1)	10		Ovarian(137;0.125)			Atovaquone(DB01117)|Leflunomide(DB01097)	CACCTCCCTGGGGCTCCTTCC	0.562000														38			29		0	0	1	0	0
NFIX	4784	broad.mit.edu	37	19	13184288	13184288	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:13184288G>A	uc010xmx.2	+	3	752	c.699G>A	c.(697-699)acG>acA	p.T233T	NFIX_uc002mwd.3_Silent_p.T225T|NFIX_uc002mwe.3_Silent_p.T217T|NFIX_uc002mwf.3_Silent_p.T228T|NFIX_uc002mwg.2_Silent_p.T224T			Q14938	NFIX_HUMAN	Homo sapiens nuclear factor I/X (CCAAT-binding transcription factor) (NFIX), mRNA.	225					DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(19;8.2e-22)			GGAATGTGACGGAGCTGGTGA	0.532000														33			21		0	0	1	0	0
ZNF354B	117608	broad.mit.edu	37	5	178310634	178310634	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:178310634G>T	uc003mjl.3	+	4	1407	c.1181G>T	c.(1180-1182)aGt>aTt	p.S394I	ZNF354B_uc003mjm.3_Missense_Mutation_p.S394I	NM_058230	NP_478137	Q96LW1	Z354B_HUMAN	Homo sapiens zinc finger protein 354B (ZNF354B), mRNA.	394					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(7)|liver(2)|lung(2)|ovary(2)|stomach(3)|urinary_tract(1)	21	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TTCAGCCAGAGTGCCTCTCTT	0.408000														37			27		6.70999e-13	8.30224e-13	1	1	0
VCP	7415	broad.mit.edu	37	9	35066787	35066787	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:35066787G>A	uc003zvy.2	-	3	719	c.330C>T	c.(328-330)taC>taT	p.Y110Y	VCP_uc010mkh.1_5'UTR|VCP_uc010mki.1_Silent_p.Y65Y	NM_007126	NP_009057	P55072	TERA_HUMAN	Homo sapiens valosin containing protein (VCP), mRNA.	110					ER-associated protein catabolic process|activation of caspase activity|double-strand break repair|endoplasmic reticulum unfolded protein response|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|retrograde protein transport, ER to cytosol	cytosol|endoplasmic reticulum|microsome|nucleus|proteasome complex	ATP binding|ATPase activity|lipid binding|polyubiquitin binding|protein domain specific binding|protein phosphatase binding			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			TACGTTTGCCGTACTTCACAT	0.512000														49			28		0	0	1	0	0
TDRD3	81550	broad.mit.edu	37	13	61083899	61083899	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:61083899T>C	uc001vhz.4	+	8	1370	c.582T>C	c.(580-582)gtT>gtC	p.V194V	TDRD3_uc010aef.2_Silent_p.V19V|TDRD3_uc001via.3_Silent_p.V194V|TDRD3_uc010aeg.3_Silent_p.V287V|TDRD3_uc001vib.4_Silent_p.V193V	NM_001146071	NP_110421	Q9H7E2	TDRD3_HUMAN	Homo sapiens tudor domain containing 3 (TDRD3), transcript variant 3, mRNA.	194	UBA.				chromatin modification	cytoplasm|nucleus	chromatin binding|methylated histone residue binding|nucleic acid binding|transcription coactivator activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	40		Prostate(109;0.173)|Breast(118;0.174)		GBM - Glioblastoma multiforme(99;0.000291)		CCTTCCAGGTTGATGAGAAAG	0.408000														176			18		0	0	1	0	0
C19orf54	284325	broad.mit.edu	37	19	41249867	41249867	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:41249867A>C	uc002oou.1	-	4	781	c.661T>G	c.(661-663)Ttc>Gtc	p.F221V	C19orf54_uc002oow.1_Missense_Mutation_p.F49V|C19orf54_uc002oox.1_Non-coding_Transcript|C19orf54_uc002ooy.1_Silent_p.T41T|C19orf54_uc010xvs.1_Non-coding_Transcript	NM_198476	NP_940878	Q5BKX5	CS054_HUMAN	Homo sapiens chromosome 19 open reading frame 54 (C19orf54), mRNA.	221										breast(1)|lung(1)|urinary_tract(2)	4			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			TCATGGTTGAAGTCCTCGTCG	0.622000														50			25		0	0	1	0	0
WDR78	79819	broad.mit.edu	37	1	67356837	67356837	+	Splice_Site	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:67356837C>A	uc001dcx.3	-	4	699	c.643_splice	c.e4+1	p.D215_splice	WDR78_uc001dcy.3_Splice_Site_p.D215_splice|WDR78_uc009wax.3_5'Flank	NM_024763	NP_079039	Q5VTH9	WDR78_HUMAN	Homo sapiens WD repeat domain 78 (WDR78), transcript variant 1, mRNA.	215										NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						TTTTCATTACCTGTGAAACTA	0.328000														78			54		2.43277e-16	3.0842e-16	1	1	0
MRPS5	64969	broad.mit.edu	37	2	95753150	95753150	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:95753150C>A	uc002sub.3	-	11	1463	c.1245G>T	c.(1243-1245)caG>caT	p.Q415H	MRPS5_uc002suc.3_Non-coding_Transcript	NM_031902	NP_114108	P82675	RT05_HUMAN	Homo sapiens mitochondrial ribosomal protein S5 (MRPS5), nuclear gene encoding mitochondrial protein, mRNA.	415					translation	mitochondrion|ribosome	RNA binding|protein binding|structural constituent of ribosome			central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						GCTTCATTCCCTGTGCAGTCT	0.567000														48			7		0.00198382	0.00208369	1	1	0
PCSK5	5125	broad.mit.edu	37	9	78601108	78601108	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:78601108C>T	uc004akc.2	+	2	896	c.358C>T	c.(358-360)Cgt>Tgt	p.R120C	PCSK5_uc004ajy.2_Missense_Mutation_p.R120C|PCSK5_uc004ajz.3_Missense_Mutation_p.R120C|PCSK5_uc004aka.3_Non-coding_Transcript	NM_001190482	NP_001177411	Q92824	PCSK5_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 5 (PCSK5), transcript variant 1, mRNA.	120	Catalytic.				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	Golgi lumen|extracellular space|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						TGACTTCAGTCGTGCCCAGTC	0.473000														35			19		0	0	1	0	0
CDH24	64403	broad.mit.edu	37	14	23523968	23523968	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:23523968C>T	uc001wil.3	-	3	864	c.604G>A	c.(604-606)Gac>Aac	p.D202N	CDH24_uc010akf.3_Missense_Mutation_p.D202N|CDH24_uc001win.3_Missense_Mutation_p.D202N	NM_022478	NP_071923	Q86UP0	CAD24_HUMAN	Homo sapiens cadherin 24, type 2 (CDH24), transcript variant 1, mRNA.	202	Cadherin 2.				adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		GTCTGGGGGTCCACAGAGAAG	0.592000											OREG0022594	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		20			7		0	0	1	0	0
DDX5	1655	broad.mit.edu	37	17	62496859	62496859	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:62496859C>T	uc010deh.2	-	11	1292	c.1249G>A	c.(1249-1251)Gac>Aac	p.D417N	DDX5_uc002jek.2_Missense_Mutation_p.D417N|DDX5_uc002jej.2_Missense_Mutation_p.D312N|DDX5_uc010wqa.1_Missense_Mutation_p.D338N	NM_004396	NP_004387	P17844	DDX5_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 5 (DDX5), mRNA.	417	Helicase C-terminal.				cell growth|regulation of alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|RNA helicase activity|mRNA binding|protein binding|transcription cofactor activity			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	19	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)			TTAGGGTAGTCATAATTGATG	0.408000			T	ETV4	prostate									66			5		0	0	1	0	0
CENPBD1	92806	broad.mit.edu	37	16	90038294	90038294	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:90038294G>A	uc002fpr.3	-	0	947	c.37C>T	c.(37-39)Cct>Tct	p.P13S	AFG3L1P_uc002fps.1_5'Flank|AFG3L1P_uc002fpt.1_5'Flank|AFG3L1P_uc002fpu.1_5'Flank|AFG3L1P_uc002fpv.1_5'Flank|AFG3L1P_uc002fpw.1_5'Flank|AFG3L1P_uc002fpx.1_5'Flank	NM_145039	NP_659476	B2RD01	CENP1_HUMAN	Homo sapiens CENPB DNA-binding domains containing 1 (CENPBD1), mRNA.	13	HTH psq-type.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			endometrium(1)|lung(2)	3						TTGGCACTAGGGATGACAGTT	0.502000														18			12		0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	147336303	147336303	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:147336303C>T	uc003weu.2	+	12	2519	c.2003C>T	c.(2002-2004)tCc>tTc	p.S668F		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	668	Fibrinogen C-terminal.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	p.A667T(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TACAGCGCCTCCATGGACCAG	0.498000										HNSCC(39;0.1)				44			60		0	0	1	0	0
ZC3H14	79882	broad.mit.edu	37	14	89034493	89034493	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:89034493G>A	uc001xww.3	+	2	415	c.190G>A	c.(190-192)Gta>Ata	p.V64I	ZC3H14_uc010twd.2_Missense_Mutation_p.V64I|ZC3H14_uc010twe.2_Missense_Mutation_p.V64I|ZC3H14_uc001xwx.3_Missense_Mutation_p.V64I|ZC3H14_uc010twf.2_5'UTR|ZC3H14_uc001xwy.3_Missense_Mutation_p.V30I	NM_024824	NP_079100	Q6PJT7	ZC3HE_HUMAN	Homo sapiens zinc finger CCCH-type containing 14 (ZC3H14), transcript variant 1, mRNA.	64						cytoplasm|nuclear speck	RNA binding|protein binding|zinc ion binding			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						TCGATTCACCGTATGGTATGT	0.423000														16			15		0	0	1	0	0
CEP290	80184	broad.mit.edu	37	12	88505575	88505575	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:88505575C>A	uc001tar.3	-	20	2457	c.2113G>T	c.(2113-2115)Gtt>Ttt	p.V705F	CEP290_uc001tat.3_Missense_Mutation_p.V498F|CEP290_uc009zsl.1_Non-coding_Transcript	NM_025114	NP_079390	O15078	CE290_HUMAN	Homo sapiens centrosomal protein 290kDa (CEP290), mRNA.	705					G2/M transition of mitotic cell cycle|cilium assembly|eye photoreceptor cell development|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding			breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						AGCTGATCAACTTGGGCTTTC	0.358000														24			8		0.00307968	0.00322291	1	1	0
HNRNPH2	3188	broad.mit.edu	37	X	100667953	100667953	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:100667953G>T	uc022cai.1	+	0	977	c.977G>T	c.(976-978)aGa>aTa	p.R326I	RPL36A-HNRNPH2_uc022cag.1_3'UTR|RPL36A-HNRNPH2_uc022cah.1_3'UTR|HNRNPH2_uc004ehm.3_Missense_Mutation_p.R326I|HNRNPH2_uc004ehn.3_Missense_Mutation_p.R326I	NM_019597	NP_062543	P55795	HNRH2_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein H2 (H') (HNRNPH2), transcript variant 1, mRNA.	326	2 X 16 AA Gly-rich approximate repeats.|RRM 3.				nuclear mRNA splicing, via spliceosome	actin cytoskeleton|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	RNA binding|nucleotide binding|protein binding			breast(3)|large_intestine(2)|lung(6)|skin(1)	12						CCCGATGGCAGAGTTACCGGT	0.423000														163			15		2.61681e-11	3.19342e-11	1	1	0
HECA	51696	broad.mit.edu	37	6	139487642	139487642	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:139487642A>G	uc003qin.3	+	1	778	c.493A>G	c.(493-495)Aca>Gca	p.T165A		NM_016217	NP_057301	Q9UBI9	HDC_HUMAN	Homo sapiens headcase homolog (Drosophila) (HECA), mRNA.	165					respiratory tube development					endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387)		GAACATGTGGACAAAGAAGGG	0.592000														49			34		0	0	1	0	0
PNPLA4	8228	broad.mit.edu	37	X	7889875	7889875	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:7889875G>A	uc011mhq.1	-	3	452	c.290C>T	c.(289-291)tCg>tTg	p.S97L	PNPLA4_uc011mhr.1_Missense_Mutation_p.S97L|PNPLA4_uc011mhs.1_Missense_Mutation_p.S10L	NM_004650	NP_001166143	P41247	PLPL4_HUMAN	Homo sapiens patatin-like phospholipase domain containing 4 (PNPLA4), transcript variant 1, mRNA.	97	Patatin.				lipid catabolic process		triglyceride lipase activity			kidney(1)|large_intestine(3)|lung(2)|prostate(1)	7		Colorectal(8;0.0329)|Medulloblastoma(8;0.232)				AGGAAGAATCGACTCCATCCC	0.438000														33			13		0	0	1	0	0
MMP15	4324	broad.mit.edu	37	16	58075737	58075737	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:58075737C>T	uc002ena.3	+	5	2100	c.1127C>T	c.(1126-1128)aCa>aTa	p.T376I		NM_002428	NP_002419	P51511	MMP15_HUMAN	Homo sapiens matrix metallopeptidase 15 (membrane-inserted) (MMP15), mRNA.	376	Hemopexin-like 1.				protein modification process|proteolysis	extracellular matrix|integral to plasma membrane	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|protein binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	18						GACTTTGACACAGTGGCCATG	0.677000														17			6		0	0	1	0	0
CLMP	79827	broad.mit.edu	37	11	122955285	122955285	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:122955285C>T	uc001pyt.3	-	2	682	c.323G>A	c.(322-324)cGg>cAg	p.R108Q		NM_024769	NP_079045	Q9H6B4	CLMP_HUMAN	Homo sapiens CXADR-like membrane protein (CLMP), mRNA.	108	Ig-like C2-type 1.					integral to membrane|tight junction				endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	14						ACAGGTGTACCGGCCCTCATC	0.493000														29			26		0	0	1	0	0
ZNF507	22847	broad.mit.edu	37	19	32844255	32844255	+	Silent	SNP	C	T	T	rs148132440		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:32844255C>T	uc002nte.3	+	2	791	c.519C>T	c.(517-519)caC>caT	p.H173H	ZNF507_uc002ntc.2_Silent_p.H173H|ZNF507_uc010xrn.1_Silent_p.H173H|ZNF507_uc002ntd.3_Silent_p.H173H	NM_001136156	NP_055725	Q8TCN5	ZN507_HUMAN	Homo sapiens zinc finger protein 507 (ZNF507), transcript variant 1, mRNA.	173					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	31	Esophageal squamous(110;0.162)					TTGAAGCCCACGTGGTGAATG	0.448000														34			22		0	0	1	0	0
ZNF486	90649	broad.mit.edu	37	19	20307822	20307822	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:20307822A>C	uc002nou.2	+	3	360	c.303A>C	c.(301-303)aaA>aaC	p.K101N		NM_052852	NP_443084	Q96H40	ZN486_HUMAN	Homo sapiens zinc finger protein 486 (ZNF486), mRNA.	101					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.L100L(1)		endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11						AGAGCATAAAAGATTCTTACC	0.343000														56			21		0	0	1	0	0
PPP1R10	5514	broad.mit.edu	37	6	30571787	30571787	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:30571787C>T	uc003nqn.1	-	13	2058	c.1506G>A	c.(1504-1506)gaG>gaA	p.E502E	PPP1R10_uc010jsc.1_Silent_p.E156E	NM_002714	NP_002705	Q96QC0	PP1RA_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 10 (PPP1R10), mRNA.	502	Interaction with WDR82 (By similarity).				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|RNA binding|protein phosphatase inhibitor activity|zinc ion binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						CTGCTCACCTCTCCTTGTTCA	0.542000														163			9		0	0	1	0	0
TWISTNB	221830	broad.mit.edu	37	7	19737998	19737998	+	Missense_Mutation	SNP	C	T	T	rs61734275	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:19737998C>T	uc003sup.1	-	3	979	c.958G>A	c.(958-960)Gaa>Aaa	p.E320K		NM_001002926	NP_001002926	Q3B726	RPA43_HUMAN	Homo sapiens TWIST neighbor (TWISTNB), mRNA.	320	Lys-rich.					microtubule cytoskeleton|nucleolus	DNA-directed RNA polymerase activity	p.E320K(2)		kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	20						GGGGTAAATTCGGCCTCTTCA	0.368000														73			98		0	0	1	0	0
RCBTB2	1102	broad.mit.edu	37	13	49070385	49070385	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:49070385C>T	uc010tgg.2	-	12	1763	c.1472G>A	c.(1471-1473)gGc>gAc	p.G491D	RCBTB2_uc001vci.3_Missense_Mutation_p.G462D|RCBTB2_uc010tgh.2_Missense_Mutation_p.G212D|RCBTB2_uc001vch.3_Missense_Mutation_p.G486D|RCBTB2_uc001vcj.3_Missense_Mutation_p.G438D	NM_001268	NP_001259	O95199	RCBT2_HUMAN	Homo sapiens regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2 (RCBTB2), mRNA.	486	BTB 2.						Ran guanyl-nucleotide exchange factor activity			breast(5)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(3)	31		all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116)		CTCGCAGATGCCTTGCTTGAT	0.493000														48			25		0	0	1	0	0
NISCH	11188	broad.mit.edu	37	3	52521900	52521900	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52521900G>A	uc003ded.4	+	15	2526	c.2392G>A	c.(2392-2394)Gcc>Acc	p.A798T	NISCH_uc003dee.4_Missense_Mutation_p.A287T|NISCH_uc003deg.1_Non-coding_Transcript	NM_007184	NP_009115	Q9Y2I1	NISCH_HUMAN	Homo sapiens nischarin (NISCH), mRNA.	798	Interaction with ITGA5 (By similarity).|Interaction with LIMK (By similarity).|Interaction with PAK1 (By similarity).				apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)		CTCGGACGCCGCCAACCTGCA	0.607000														10			14		0	0	1	0	0
HEMGN	55363	broad.mit.edu	37	9	100693430	100693430	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:100693430C>T	uc004axy.3	-	2	355	c.247G>A	c.(247-249)Gaa>Aaa	p.E83K	HEMGN_uc004axz.3_Missense_Mutation_p.E83K	NM_197978	NP_932095	Q9BXL5	HEMGN_HUMAN	Homo sapiens hemogen (HEMGN), transcript variant 2, mRNA.	83	Necessary for nuclear localization.				cell differentiation|multicellular organismal development					NS(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|skin(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(62;0.0559)				ACCTTCAATTCTGTGTTTTGT	0.433000														59			23		0	0	1	0	0
VPS13D	55187	broad.mit.edu	37	1	12418629	12418629	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:12418629A>G	uc001atv.3	+	49	10254	c.10113A>G	c.(10111-10113)ggA>ggG	p.G3371G	VPS13D_uc001atw.3_Silent_p.G3346G|VPS13D_uc001atx.3_Silent_p.G2558G	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA.	3370					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TCCAGCAAGGAAACCGCCCAG	0.552000														25			18		0	0	1	0	0
HNRNPL	3191	broad.mit.edu	37	19	39328286	39328286	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:39328286G>A	uc021uuh.1	-	10	1574	c.1563C>T	c.(1561-1563)tgC>tgT	p.C521C	HNRNPL_uc002ojj.1_Silent_p.C177C|HNRNPL_uc010ege.1_Silent_p.C69C|HNRNPL_uc002ojk.3_Silent_p.C177C|HNRNPL_uc002ojl.3_Silent_p.C177C|HNRNPL_uc021uui.1_Silent_p.C388C|HNRNPL_uc002ojo.1_Silent_p.C99C	NM_001533	NP_001005335	P14866	HNRPL_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein L (HNRNPL), transcript variant 1, mRNA.	521					nuclear mRNA splicing, via spliceosome	cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	RNA binding|nucleotide binding|protein binding|transcription regulatory region DNA binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			CCAGCTCATCGCAGATCTGCA	0.493000														28			4		0	0	1	0	0
VIM	7431	broad.mit.edu	37	10	17277273	17277273	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:17277273A>G	uc001iou.2	+	6	1527	c.1114A>G	c.(1114-1116)Atg>Gtg	p.M372V		NM_003380	NP_003371	P08670	VIME_HUMAN	Homo sapiens vimentin (VIM), mRNA.	372	Coil 2.|Rod.				cellular component disassembly involved in apoptosis|cellular component movement|interspecies interaction between organisms|muscle filament sliding	cytosol|intermediate filament	protein C-terminus binding|structural constituent of cytoskeleton			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GATTCAGAATATGAAGGAGGA	0.493000														52			17		0	0	1	0	0
ASXL1	171023	broad.mit.edu	37	20	31017711	31017711	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:31017711G>A	uc021wbw.1	+	7	1005	c.573G>A	c.(571-573)tcG>tcA	p.S191S	ASXL1_uc002wxs.3_Silent_p.S190S|ASXL1_uc010geb.3_Intron	NM_015338	NP_056153	Q8IXJ9	ASXL1_HUMAN	Homo sapiens additional sex combs like 1 (Drosophila) (ASXL1), transcript variant 1, mRNA.	191					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						CAGGGTTCTCGGGCTGCCACG	0.642000			"""F, N, Mis"""		"""MDS, CMML"""									31			23		0	0	1	0	0
C8orf73	642475	broad.mit.edu	37	8	144652165	144652165	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:144652165C>T	uc010mff.3	-	6	1158	c.1114G>A	c.(1114-1116)Gcg>Acg	p.A372T	C8orf73_uc010mfg.1_Missense_Mutation_p.R384H	NM_001100878	NP_001094348	A6NGR9	CH073_HUMAN	Homo sapiens chromosome 8 open reading frame 73 (C8orf73), mRNA.	372	Leu-rich.						binding			endometrium(1)|kidney(1)|lung(2)|ovary(2)	6	all_cancers(97;6.49e-11)|all_epithelial(106;4.73e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.014)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GGGTCGTCCGCGCTGCGAAGC	0.632000														38			14		0	0	1	0	0
ZNF385D	79750	broad.mit.edu	37	3	21462709	21462709	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:21462709G>A	uc003cce.3	-	7	1593	c.1185C>T	c.(1183-1185)taC>taT	p.Y395Y		NM_024697	NP_078973	Q9H6B1	Z385D_HUMAN	Homo sapiens zinc finger protein 385D (ZNF385D), mRNA.	395						nucleus	nucleic acid binding|zinc ion binding			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						TTGGAATTTAGTAAGGAGCAA	0.428000														13			4		0	0	1	0	0
KLHDC5	57542	broad.mit.edu	37	12	27944687	27944687	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:27944687G>A	uc001rij.3	+	1	996	c.919G>A	c.(919-921)Gga>Aga	p.G307R		NM_020782	NP_065833	Q9P2K6	KLDC5_HUMAN	Homo sapiens kelch domain containing 5 (KLHDC5), mRNA.	307								p.G307R(2)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|urinary_tract(1)	23	Lung SC(9;0.0873)					CTATGCCATCGGAGGGCAGGC	0.478000														126			80		0	0	1	0	0
C17orf47	284083	broad.mit.edu	37	17	56619325	56619325	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:56619325C>T	uc002iwq.2	-	1	1750	c.1564G>A	c.(1564-1566)Gtc>Atc	p.V522I	SEPT4_uc010wny.2_5'Flank|SEPT4_uc010wnx.2_5'Flank	NM_001038704	NP_001033793	Q8NEP4	CQ047_HUMAN	Homo sapiens chromosome 17 open reading frame 47 (C17orf47), mRNA.	522										NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	24	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TCCTCAGAGACATCTGAAAGT	0.507000														33			18		0	0	1	0	0
BMP5	653	broad.mit.edu	37	6	55625255	55625255	+	Splice_Site	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:55625255C>A	uc003pcq.3	-	5	1816	c.1104_splice	c.e5+1	p.Q368_splice	BMP5_uc011dxf.2_Splice_Site_p.Q368_splice	NM_021073	NP_066551	P22003	BMP5_HUMAN	Homo sapiens bone morphogenetic protein 5 (BMP5), mRNA.	368					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			AAATTCCTACCTGCCATCCCA	0.358000														49			9		9.70103e-10	1.16071e-09	1	1	0
TULP4	56995	broad.mit.edu	37	6	158735283	158735283	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:158735283C>T	uc003qrf.3	+	0	1592	c.235C>T	c.(235-237)Cgg>Tgg	p.R79W	TULP4_uc011efo.2_Missense_Mutation_p.R79W|TULP4_uc003qrg.3_Missense_Mutation_p.R79W	NM_020245	NP_064630	Q9NRJ4	TULP4_HUMAN	Homo sapiens tubby like protein 4 (TULP4), transcript variant 1, mRNA.	79					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity	p.R79L(1)		endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		TTTCAACCTCCGGGGCCACAA	0.522000														28			22		0	0	1	0	0
ALOX5	240	broad.mit.edu	37	10	45878107	45878107	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:45878107G>A	uc001jce.3	+	1	426	c.327G>A	c.(325-327)gaG>gaA	p.E109E	ALOX5_uc009xmt.3_Silent_p.E109E|ALOX5_uc010qfg.2_Silent_p.E109E|ALOX5_uc021ppr.1_Silent_p.E109E	NM_000698	NP_000689	P09917	LOX5_HUMAN	Homo sapiens arachidonate 5-lipoxygenase (ALOX5), transcript variant 1, mRNA.	109	PLAT.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane	arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding			breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Lung SC(717;0.0257)			Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744)	GCGATGTCGAGGTTGTCCTGA	0.587000														9			4		0	0	1	0	0
HIPK3	10114	broad.mit.edu	37	11	33373380	33373380	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:33373380G>A	uc001mul.1	+	14	3304	c.3034G>A	c.(3034-3036)Gca>Aca	p.A1012T	HIPK3_uc001mum.1_Missense_Mutation_p.A991T|HIPK3_uc009yjv.1_Missense_Mutation_p.A991T	NM_005734	NP_005725	Q9H422	HIPK3_HUMAN	Homo sapiens homeodomain interacting protein kinase 3 (HIPK3), transcript variant 1, mRNA.	1012					anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity			endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						TGAGCATATGGCAAACACAGG	0.438000														13			13		0	0	1	0	0
WDR27	253769	broad.mit.edu	37	6	170064353	170064353	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:170064353G>A	uc003qwx.3	-	7	1333	c.813C>T	c.(811-813)caC>caT	p.H271H	WDR27_uc021zio.1_Silent_p.H271H|WDR27_uc003qwy.3_Silent_p.H144H|WDR27_uc003qwz.1_Silent_p.H4H|WDR27_uc011egw.1_Non-coding_Transcript|WDR27_uc003qxa.1_5'Flank	NM_182552	NP_872358	A2RRH5	WDR27_HUMAN	Homo sapiens WD repeat domain 27 (WDR27), transcript variant 1, mRNA.	241										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	12		Breast(66;1.53e-05)|Ovarian(120;0.216)		OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168)		GACGATAATGGTGTCCATCCA	0.522000														22			11		0	0	1	0	0
MED13L	23389	broad.mit.edu	37	12	116422120	116422120	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:116422120G>A	uc001tvw.3	-	19	4451	c.4396C>T	c.(4396-4398)Cgc>Tgc	p.R1466C		NM_015335	NP_056150	Q71F56	MD13L_HUMAN	Homo sapiens mediator complex subunit 13-like (MED13L), mRNA.	1466					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent			p.R1466R(1)		NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		TTTCCCACGCGCATGATCCCG	0.488000														20			15		0	0	1	0	0
HPSE	10855	broad.mit.edu	37	4	84227394	84227394	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:84227394T>C	uc003hoj.4	-	8	1267	c.1168A>G	c.(1168-1170)Aac>Gac	p.N390D	HPSE_uc003hoi.3_Missense_Mutation_p.N332D|HPSE_uc011ccq.2_Non-coding_Transcript|HPSE_uc011ccr.2_Intron|HPSE_uc011ccs.2_Missense_Mutation_p.N133D|HPSE_uc003hok.4_Missense_Mutation_p.N390D|HPSE_uc011cct.2_Intron	NM_001098540	NP_006656	Q9Y251	HPSE_HUMAN	Homo sapiens heparanase (HPSE), transcript variant 2, mRNA.	390					carbohydrate metabolic process|cell adhesion|proteoglycan metabolic process	extracellular region|lysosomal membrane|nucleus	beta-glucuronidase activity|cation binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	20		Hepatocellular(203;0.114)		COAD - Colon adenocarcinoma(81;0.141)	Heparin(DB01109)	AAATGGTAGTTTCCTGCTCCA	0.443000														40			37		0	0	1	0	0
HNRNPU	3192	broad.mit.edu	37	1	245027151	245027151	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:245027151G>A	uc001iaz.1	-	0	677	c.459C>T	c.(457-459)ggC>ggT	p.G153G	HNRNPU_uc001iay.1_5'Flank|HNRNPU_uc001iba.1_Silent_p.G153G	NM_031844	NP_114032	Q00839	HNRPU_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A) (HNRNPU), transcript variant 1, mRNA.	153	Asp/Glu-rich (acidic).				CRD-mediated mRNA stabilization	CRD-mediated mRNA stability complex|catalytic step 2 spliceosome|cell surface|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	ATP binding|DNA binding|RNA binding|protein binding	p.G153G(3)		NS(1)|endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.00868)			CGTTCTCGTCGCCCGCGCCTT	0.692000														15			3		0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124337336	124337336	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:124337336C>A	uc001lgk.1	+	7	723	c.617C>A	c.(616-618)cCt>cAt	p.P206H	DMBT1_uc001lgl.1_Missense_Mutation_p.P206H|DMBT1_uc001lgm.1_Missense_Mutation_p.P206H|DMBT1_uc021qaf.1_Missense_Mutation_p.P206H|DMBT1_uc021qag.1_Missense_Mutation_p.P206H|DMBT1_uc021qah.1_Missense_Mutation_p.P206H|DMBT1_uc009xzz.1_Missense_Mutation_p.P206H|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yaa.1_Missense_Mutation_p.P58H	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	206					epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GCTGCCCAGCCTCAGTCAACA	0.512000														53			8		0.00448238	0.0046769	1	1	0
SERPIND1	3053	broad.mit.edu	37	22	21140425	21140425	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:21140425G>A	uc002ztc.2	+	2	1384	c.1381G>A	c.(1381-1383)Gcc>Acc	p.A461T	PI4KA_uc002zsz.4_Intron|SERPIND1_uc002ztb.1_Missense_Mutation_p.A433T	NM_000185	NP_000176	P05546	HEP2_HUMAN	Homo sapiens serpin peptidase inhibitor, clade D (heparin cofactor), member 1 (SERPIND1), mRNA.	433					blood coagulation|chemotaxis|regulation of proteolysis	extracellular region	heparin binding|serine-type endopeptidase inhibitor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		Ardeparin(DB00407)	CCAAAGGATCGCCATCGACCT	0.572000														70			33		0	0	1	0	0
TGM6	343641	broad.mit.edu	37	20	2413265	2413265	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:2413265C>T	uc002wfy.1	+	12	2158	c.2097C>T	c.(2095-2097)atC>atT	p.I699I	TGM6_uc010gal.1_3'UTR	NM_198994	NP_945345	O95932	TGM3L_HUMAN	Homo sapiens transglutaminase 6 (TGM6), transcript variant 1, mRNA.	699					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	GCTTTGTGATCGTCCATGTGG	0.567000														47			33		0	0	1	0	0
C8orf73	642475	broad.mit.edu	37	8	144651884	144651884	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:144651884C>T	uc010mff.3	-	7	1329	c.1285G>A	c.(1285-1287)Gcg>Acg	p.A429T	C8orf73_uc010mfg.1_Missense_Mutation_p.R441H	NM_001100878	NP_001094348	A6NGR9	CH073_HUMAN	Homo sapiens chromosome 8 open reading frame 73 (C8orf73), mRNA.	429	Leu-rich.						binding			endometrium(1)|kidney(1)|lung(2)|ovary(2)	6	all_cancers(97;6.49e-11)|all_epithelial(106;4.73e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.014)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CGATTCAGCGCGAGGTGGCCC	0.692000														19			19		0	0	1	0	0
HLTF	6596	broad.mit.edu	37	3	148781309	148781309	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:148781309C>T	uc003ewq.1	-	9	1287	c.1069G>A	c.(1069-1071)Gca>Aca	p.A357T	HLTF_uc003ewr.1_Missense_Mutation_p.A357T|HLTF_uc003ews.1_Missense_Mutation_p.A357T|HLTF_uc010hve.1_Missense_Mutation_p.A357T	NM_139048	NP_620636	Q14527	HLTF_HUMAN	Homo sapiens helicase-like transcription factor (HLTF), transcript variant 2, mRNA.	357					chromatin modification|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding	p.D356D(1)		breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			CATCTAGATGCGTCTATTTCA	0.343000														50			22		0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152410491	152410491	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:152410491C>T	uc021vrb.1	-	96	14403	c.14374G>A	c.(14374-14376)Gtg>Atg	p.V4792M	NEB_uc002txr.3_Missense_Mutation_p.V1258M|NEB_uc002txu.3_Missense_Mutation_p.V6493M|NEB_uc021vrc.1_Missense_Mutation_p.V6493M|NEB_uc010fnx.3_Missense_Mutation_p.V4780M|NEB_uc021vrd.1_Missense_Mutation_p.V4792M	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	4792					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle	p.I4791I(2)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		ATGTCGGGCACGATGTGGATT	0.458000														88			40		0	0	1	0	0
TMTC2	160335	broad.mit.edu	37	12	83290332	83290332	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:83290332G>A	uc001szt.3	+	2	1822	c.1390G>A	c.(1390-1392)Gtt>Att	p.V464I	TMTC2_uc001szr.1_Missense_Mutation_p.V464I|TMTC2_uc001szs.1_Missense_Mutation_p.V464I|TMTC2_uc010suk.2_Missense_Mutation_p.V219I	NM_152588	NP_689801	Q8N394	TMTC2_HUMAN	Homo sapiens transmembrane and tetratricopeptide repeat containing 2 (TMTC2), mRNA.	464						endoplasmic reticulum|integral to membrane	binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						TACACTAATTGTTTTTTATGG	0.408000														34			31		0	0	1	0	0
PGBD2	267002	broad.mit.edu	37	1	249211110	249211110	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:249211110G>T	uc001ifh.3	+	2	474	c.327G>T	c.(325-327)caG>caT	p.Q109H	PGBD2_uc001ifg.3_Intron|PGBD2_uc009xhd.3_Missense_Mutation_p.Q106H|PGBD2_uc021pmh.1_5'Flank	NM_170725	NP_001017434	Q6P3X8	PGBD2_HUMAN	Homo sapiens piggyBac transposable element derived 2 (PGBD2), transcript variant 1, mRNA.	109										NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			TGAAACCTCAGCGCATTTGGA	0.517000														57			9		0.000274275	0.000294507	1	1	0
KIAA1522	57648	broad.mit.edu	37	1	33235702	33235702	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:33235702C>T	uc001bvu.1	+	5	966	c.922C>T	c.(922-924)Cgg>Tgg	p.R308W	KIAA1522_uc010ohm.1_Missense_Mutation_p.R260W|KIAA1522_uc001bvv.2_Missense_Mutation_p.R249W|KIAA1522_uc010ohn.1_Intron	NM_020888	NP_065939	Q9P206	K1522_HUMAN	Homo sapiens KIAA1522 (KIAA1522), transcript variant 1, mRNA.	249										breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				CTTTGTTGGCCGGTCCACGGG	0.687000														44			23		0	0	1	0	0
KLF5	688	broad.mit.edu	37	13	73636832	73636832	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:73636832C>A	uc001vje.3	+	1	1419	c.1095C>A	c.(1093-1095)ccC>ccA	p.P365P	KLF5_uc001vjd.3_Silent_p.P274P	NM_001730	NP_001721	Q13887	KLF5_HUMAN	Homo sapiens Kruppel-like factor 5 (intestinal) (KLF5), mRNA.	365					transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(6;0.00187)|Breast(118;0.0735)		GBM - Glioblastoma multiforme(99;0.0011)		GGAGTAACCCCGATTTGGAGA	0.443000														89			6		0.00116845	0.00123466	1	1	0
ZSWIM3	140831	broad.mit.edu	37	20	44506742	44506742	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:44506742G>A	uc002xqd.3	+	1	1790	c.1545G>A	c.(1543-1545)gaG>gaA	p.E515E	ZSWIM3_uc010zxg.2_Silent_p.E509E	NM_080752	NP_542790	Q96MP5	ZSWM3_HUMAN	Homo sapiens zinc finger, SWIM-type containing 3 (ZSWIM3), transcript variant 1, mRNA.	515							zinc ion binding	p.W514C(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	35		Myeloproliferative disorder(115;0.0122)				ATGAGTGGGAGGTGGTACAGA	0.567000														24			14		0	0	1	0	0
BCAS3	54828	broad.mit.edu	37	17	59067480	59067480	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:59067480G>A	uc002iyv.4	+	14	1479	c.1370G>A	c.(1369-1371)cGt>cAt	p.R457H	BCAS3_uc010wow.1_Missense_Mutation_p.R244H|BCAS3_uc002iyu.4_Missense_Mutation_p.R457H|BCAS3_uc002iyw.4_Missense_Mutation_p.R453H|BCAS3_uc002iyx.1_Missense_Mutation_p.R272H|BCAS3_uc002iyy.4_Missense_Mutation_p.R228H|BCAS3_uc002iyz.4_Missense_Mutation_p.R11H|BCAS3_uc002iza.4_Missense_Mutation_p.R11H	NM_001099432	NP_001092902	Q9H6U6	BCAS3_HUMAN	Homo sapiens breast carcinoma amplified sequence 3 (BCAS3), transcript variant 1, mRNA.	457						nucleus				NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			CGCATGAGCCGTTTCCAGAAA	0.512000														27			10		0	0	1	0	0
TXNDC16	57544	broad.mit.edu	37	14	52922169	52922169	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:52922169T>C	uc001wzs.3	-	17	2164	c.1715A>G	c.(1714-1716)tAt>tGt	p.Y572C	TXNDC16_uc010tqu.2_Missense_Mutation_p.Y567C|TXNDC16_uc010aoe.3_Non-coding_Transcript	NM_020784	NP_065835	Q9P2K2	TXD16_HUMAN	Homo sapiens thioredoxin domain containing 16 (TXNDC16), transcript variant 1, mRNA.	572					cell redox homeostasis	extracellular region				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21	Breast(41;0.0716)					ACTTGCAGCATATTTGGTTGA	0.433000														54			24		0	0	1	0	0
PNN	5411	broad.mit.edu	37	14	39650606	39650606	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:39650606C>T	uc001wuw.4	+	8	1790	c.1693C>T	c.(1693-1695)Cga>Tga	p.R565*		NM_002687	NP_002678	Q9H307	PININ_HUMAN	Homo sapiens pinin, desmosome associated protein (PNN), mRNA.	565	Ser-rich.				cell adhesion|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|desmosome|intermediate filament|nuclear speck	DNA binding|protein binding|structural molecule activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)|stomach(1)	27	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0119)		AAGTAGAGGTCGAGCTAGAAA	0.453000														33			24		0	0	1	0	0
ZNF292	23036	broad.mit.edu	37	6	87943143	87943143	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:87943143G>A	uc003plm.4	+	4	680	c.639G>A	c.(637-639)aaG>aaA	p.K213K		NM_015021	NP_055836	O60281	ZN292_HUMAN	Homo sapiens zinc finger protein 292 (ZNF292), mRNA.	213					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		CTCTAGCAAAGCTGTGTTCTG	0.358000														58			35		0	0	1	0	0
CES3	23491	broad.mit.edu	37	16	66997236	66997236	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:66997236C>T	uc002eqt.3	+	1	316	c.237C>T	c.(235-237)caC>caT	p.H79H	CES3_uc010cdz.3_Silent_p.H79H	NM_024922	NP_079198	Q6UWW8	EST3_HUMAN	Homo sapiens carboxylesterase 3 (CES3), transcript variant 1, mRNA.	79						endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	24		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127)		CAGCCCCACACCCAGCACAGC	0.642000														70			6		0	0	1	0	0
DDX10	1662	broad.mit.edu	37	11	108594046	108594046	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:108594046C>T	uc001pkm.3	+	12	1887	c.1822C>T	c.(1822-1824)Cct>Tct	p.P608S	DDX10_uc001pkl.1_Missense_Mutation_p.P608S	NM_004398	NP_004389	Q13206	DDX10_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 10 (DDX10), mRNA.	608							ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity	p.E594_E618del(2)		breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		CCCATCTCTTCCTAACACCAG	0.433000			T	NUP98	AML*									22			22		0	0	1	0	0
TMEM48	55706	broad.mit.edu	37	1	54266450	54266450	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:54266450G>A	uc001cvs.3	-	10	1429	c.1138C>T	c.(1138-1140)Ctg>Ttg	p.L380L	TMEM48_uc010onu.2_Silent_p.L340L|TMEM48_uc001cvt.3_Silent_p.L257L|TMEM48_uc009vzk.3_Non-coding_Transcript|TMEM48_uc010onv.2_Silent_p.L45L	NM_018087	NP_060557	Q9BTX1	NDC1_HUMAN	Homo sapiens transmembrane protein 48 (TMEM48), transcript variant 1, mRNA.	380					mRNA transport|nuclear pore complex assembly|nuclear pore distribution|protein transport|transmembrane transport	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	18						TAGAGAATCAGTTTCTGAGTC	0.418000														38			30		0	0	1	0	0
DUOX1	53905	broad.mit.edu	37	15	45440173	45440173	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:45440173G>T	uc001zus.1	+	20	2966	c.2620G>T	c.(2620-2622)Gat>Tat	p.D874Y	DUOX1_uc001zut.1_Missense_Mutation_p.D874Y|DUOX1_uc010bee.1_Missense_Mutation_p.D254Y|DUOX1_uc001zuu.3_Missense_Mutation_p.D16Y	NM_017434	NP_787954	Q9NRD9	DUOX1_HUMAN	Homo sapiens dual oxidase 1 (DUOX1), transcript variant 1, mRNA.	874	EF-hand 2.				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	NAD(P)H oxidase activity|NADP binding|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|peroxidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		CATTTCCAAGGATGAGTTCAT	0.537000														68			27		7.76418e-22	1.00674e-21	1	1	0
ZNF577	84765	broad.mit.edu	37	19	52376920	52376920	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:52376920G>T	uc010yde.2	-	6	714	c.323C>A	c.(322-324)tCt>tAt	p.S108Y	ZNF577_uc010ydd.1_Intron|ZNF577_uc002pxx.4_Intron|ZNF577_uc002pxv.3_Missense_Mutation_p.S101Y|ZNF577_uc002pxw.3_Intron	NM_032679	NP_116068	Q9BSK1	ZN577_HUMAN	Homo sapiens zinc finger protein 577 (ZNF577), transcript variant 1, mRNA.	108					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		AAATGCATCAGAATCTTTTCC	0.378000														53			9		3.09899e-07	3.55757e-07	1	1	0
SATB1	6304	broad.mit.edu	37	3	18462280	18462280	+	Silent	SNP	C	T	T	rs138373358		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:18462280C>T	uc003cbh.3	-	1	1915	c.180G>A	c.(178-180)tcG>tcA	p.S60S	SATB1_uc003cbi.3_Silent_p.S60S|SATB1_uc003cbj.3_Silent_p.S60S	NM_002971	NP_002962	Q01826	SATB1_HUMAN	Homo sapiens SATB homeobox 1 (SATB1), transcript variant 1, mRNA.	60					cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	PML body|nuclear matrix	double-stranded DNA binding|sequence-specific DNA binding			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						TCAGATGGCCCGAGTGTTTTA	0.507000														128			9		0	0	1	0	0
SLC6A12	6539	broad.mit.edu	37	12	306028	306028	+	Missense_Mutation	SNP	C	T	T	rs151111165	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:306028C>T	uc001qhz.3	-	11	1760	c.1096G>A	c.(1096-1098)Gcc>Acc	p.A366T	SLC6A12_uc001qhy.3_Intron|SLC6A12_uc001qia.3_Missense_Mutation_p.A366T|SLC6A12_uc001qib.3_Missense_Mutation_p.A366T|SLC6A12_uc009zdh.2_Missense_Mutation_p.A366T	NM_003044	NP_003035	P48065	S6A12_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, betaine/GABA), member 12 (SLC6A12), transcript variant 1, mRNA.	366					cellular nitrogen compound metabolic process|neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00227)			TTGGGGAAGGCGATGAAGGCC	0.582000														42			7		0	0	1	0	0
PWP1	11137	broad.mit.edu	37	12	108104204	108104204	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:108104204G>A	uc001tmo.1	+	13	1400	c.1313G>A	c.(1312-1314)tGt>tAt	p.C438Y		NM_007062	NP_008993	Q13610	PWP1_HUMAN	Homo sapiens PWP1 homolog (S. cerevisiae) (PWP1), mRNA.	438					transcription, DNA-dependent	nucleus				breast(3)|endometrium(4)|kidney(1)|large_intestine(8)|lung(6)|urinary_tract(1)	23						TGTTCTTCATGTTGCCCTGAT	0.413000														47			31		0	0	1	0	0
ZC3H7B	23264	broad.mit.edu	37	22	41745272	41745272	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:41745272G>A	uc003azw.3	+	15	2131	c.1915G>A	c.(1915-1917)Gag>Aag	p.E639K		NM_017590	NP_060060	Q9UGR2	Z3H7B_HUMAN	Homo sapiens zinc finger CCCH-type containing 7B (ZC3H7B), mRNA.	655					interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						CAGCTTCATCGAGCTCAAGGT	0.657000														46			30		0	0	1	0	0
SUPT6H	6830	broad.mit.edu	37	17	27014145	27014145	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:27014145G>A	uc010crt.3	+	22	2932	c.2740G>A	c.(2740-2742)Gtc>Atc	p.V914I	SUPT6H_uc002hby.3_Missense_Mutation_p.V914I|SUPT6H_uc002hbz.1_5'Flank	NM_003170	NP_003161	Q7KZ85	SPT6H_HUMAN	Homo sapiens suppressor of Ty 6 homolog (S. cerevisiae) (SUPT6H), mRNA.	914					chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	RNA binding|hydrolase activity, acting on ester bonds|sequence-specific DNA binding transcription factor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					GAGACAGGCCGTCTCCCTGGC	0.542000														72			55		0	0	1	0	0
PDCD4	27250	broad.mit.edu	37	10	112645010	112645010	+	Splice_Site	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:112645010G>T	uc001kzh.3	+	5	728	c.442_splice	c.e5-1	p.E148_splice	PDCD4_uc001kzg.3_Splice_Site_p.E137_splice|PDCD4_uc010qre.2_Splice_Site_p.E134_splice	NM_014456	NP_055271	Q53EL6	PDCD4_HUMAN	Homo sapiens programmed cell death 4 (neoplastic transformation inhibitor) (PDCD4), transcript variant 1, mRNA.	148					apoptosis|cell aging|negative regulation of JUN kinase activity|negative regulation of cell cycle|negative regulation of transcription, DNA-dependent	cytosol|nucleus	RNA binding|protein binding			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	13		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.000526)|all cancers(201;0.00794)|BRCA - Breast invasive adenocarcinoma(275;0.125)		TCCCCTCAAAGGAGAACTGTG	0.328000														86			45		1.23103e-26	1.61485e-26	1	1	0
OR11H6	122748	broad.mit.edu	37	14	20692852	20692852	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:20692852C>T	uc010tlc.2	+	0	984	c.984C>T	c.(982-984)agC>agT	p.S328S		NM_001004480	NP_001004480	Q8NGC7	O11H6_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily H, member 6 (OR11H6), mRNA.	328					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29	all_cancers(95;0.00108)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)		TAACAGTTAGCCAAAACTGAG	0.368000														58			32		0	0	1	0	0
FERMT3	83706	broad.mit.edu	37	11	63990590	63990590	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:63990590G>A	uc001nyl.2	+	13	1902	c.1753G>A	c.(1753-1755)Gtg>Atg	p.V585M	FERMT3_uc001nym.2_Missense_Mutation_p.V581M	NM_178443	NP_848537	Q86UX7	URP2_HUMAN	Homo sapiens fermitin family member 3 (FERMT3), transcript variant URP2LF, mRNA.	585					integrin activation|leukocyte cell-cell adhesion|platelet aggregation|regulation of cell-cell adhesion mediated by integrin	cell junction|cell projection|podosome	integrin binding			breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	18						CGACTTGGCCGTGGGCGACGT	0.612000														48			34		0	0	1	0	0
FXR2	9513	broad.mit.edu	37	17	7507089	7507089	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7507089C>A	uc002gia.2	-	4	800	c.435G>T	c.(433-435)gaG>gaT	p.E145D		NM_004860	NP_004851	P51116	FXR2_HUMAN	Homo sapiens fragile X mental retardation, autosomal homolog 2 (FXR2), mRNA.	145						cytosolic large ribosomal subunit	RNA binding|protein binding	p.?(1)		NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26				READ - Rectum adenocarcinoma(115;0.17)		CTCTCAGATCCTCGGGCACAG	0.507000														27			21		7.87624e-14	9.83087e-14	1	1	0
SIAH1	6477	broad.mit.edu	37	16	48396193	48396193	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:48396193T>C	uc021ths.1	-	0	147	c.147A>G	c.(145-147)ttA>ttG	p.L49L	MIR548AE2_uc021thr.1_Intron|LOC100507577_uc002efk.2_Non-coding_Transcript|SIAH1_uc002efl.3_Non-coding_Transcript|SIAH1_uc002efn.1_Silent_p.L80L|SIAH1_uc002efo.1_Silent_p.L49L|LOC100507577_uc021tht.1_Non-coding_Transcript	NM_003031	NP_003022	Q8IUQ4	SIAH1_HUMAN	Homo sapiens seven in absentia homolog 1 (Drosophila) (SIAH1), transcript variant 1, mRNA.	49					axon guidance|cell cycle|neuron apoptosis|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis	beta-catenin destruction complex|cytosol|nucleus	protein C-terminus binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|stomach(1)	7		all_cancers(37;0.157)|all_lung(18;0.11)|Breast(268;0.238)				GAATGGGCGGTAACACATAGT	0.522000														41			6		0	0	1	0	0
SCN4A	6329	broad.mit.edu	37	17	62018424	62018424	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:62018424G>A	uc002jds.1	-	23	5295	c.5218C>T	c.(5218-5220)Cgg>Tgg	p.R1740W		NM_000334	NP_000325	P35499	SCN4A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IV, alpha subunit (SCN4A), mRNA.	1740	IQ.				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	AGCAGGTGCCGGCGGTAGGCC	0.642000														47			34		0	0	1	0	0
DNAJC3	5611	broad.mit.edu	37	13	96439386	96439386	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:96439386C>T	uc001vmq.3	+	10	1451	c.1334C>T	c.(1333-1335)gCt>gTt	p.A445V		NM_006260	NP_006251	Q13217	DNJC3_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 3 (DNAJC3), mRNA.	445	J.				protein folding|response to unfolded protein|response to virus		heat shock protein binding|protein kinase inhibitor activity|unfolded protein binding			NS(1)|breast(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.126)			ATAGCAGCTGCTAAAGAAGTC	0.413000														81			33		0	0	1	0	0
CRIP1	1396	broad.mit.edu	37	14	105954546	105954546	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:105954546C>T	uc001yri.4	+	2	198	c.84C>T	c.(82-84)tgC>tgT	p.C28C	C14orf80_uc001yrj.3_5'Flank|C14orf80_uc001yrk.3_5'Flank	NM_001311	NP_001302	P50238	CRIP1_HUMAN	Homo sapiens cysteine-rich protein 1 (intestinal) (CRIP1), mRNA.	28	LIM zinc-binding.				cell proliferation	cytoplasm	zinc ion binding						Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0188)	Epithelial(152;0.235)		ATCGGCCCTGCCTGAAGTGCG	0.687000														57			6		0	0	1	0	0
ZNF765	91661	broad.mit.edu	37	19	53912265	53912265	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:53912265G>T	uc010ydx.2	+	5	1784	c.1457G>T	c.(1456-1458)aGa>aTa	p.R486I	ZNF765_uc002qbm.3_Missense_Mutation_p.R486I|ZNF765_uc002qbn.3_Intron	NM_001040185	NP_001035275	Q7L2R6	ZN765_HUMAN	Homo sapiens zinc finger protein 765 (ZNF765), mRNA.	486					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(3)	4				GBM - Glioblastoma multiforme(134;0.00379)		TACCATCATAGACTTCATACT	0.378000														73			8		5.18039e-06	5.80246e-06	1	1	0
ZNF354B	117608	broad.mit.edu	37	5	178310185	178310185	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:178310185T>C	uc003mjl.3	+	4	958	c.732T>C	c.(730-732)tgT>tgC	p.C244C	ZNF354B_uc003mjm.3_Silent_p.C244C	NM_058230	NP_478137	Q96LW1	Z354B_HUMAN	Homo sapiens zinc finger protein 354B (ZNF354B), mRNA.	244					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(7)|liver(2)|lung(2)|ovary(2)|stomach(3)|urinary_tract(1)	21	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TATTTAAATGTAAAGAATGTT	0.333000														98			69		0	0	1	0	0
LRAT	9227	broad.mit.edu	37	4	155670276	155670276	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:155670276G>A	uc003iom.1	+	1	1008	c.681G>A	c.(679-681)tgG>tgA	p.W227*	LRAT_uc003ion.1_Nonsense_Mutation_p.W227*	NM_004744	NP_004735	O95237	LRAT_HUMAN	Homo sapiens lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase) (LRAT), mRNA.	227					response to stimulus|retinoid metabolic process|steroid metabolic process|visual perception	endoplasmic reticulum membrane|integral to membrane|multivesicular body|perinuclear region of cytoplasm|rough endoplasmic reticulum	phosphatidylcholine-retinol O-acyltransferase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)	16	all_hematologic(180;0.215)	Renal(120;0.0458)			Vitamin A(DB00162)	TCTTCCTATGGATGGCTGGCT	0.383000														98			54		0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149508800	149508800	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:149508800C>T	uc010lpk.3	+	66	9530	c.9530C>T	c.(9529-9531)gCg>gTg	p.A3177V		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	3180					cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TGGCCTTGTGCGGAGGGTAAG	0.642000														37			49		0	0	1	0	0
DMTF1	9988	broad.mit.edu	37	7	86803975	86803975	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:86803975G>A	uc003uih.3	+	6	835	c.509G>A	c.(508-510)cGc>cAc	p.R170H	DMTF1_uc003uii.3_5'UTR|DMTF1_uc003uij.3_5'UTR|DMTF1_uc011khb.2_Missense_Mutation_p.R82H|DMTF1_uc003uik.3_Non-coding_Transcript|DMTF1_uc003uil.3_Missense_Mutation_p.R170H|DMTF1_uc003uim.1_Missense_Mutation_p.R170H|DMTF1_uc003uin.3_5'UTR	NM_001142327	NP_001135798	Q9Y222	DMTF1_HUMAN	Homo sapiens cyclin D binding myb-like transcription factor 1 (DMTF1), transcript variant 2, mRNA.	170	Interaction with CCND2 (By similarity).|Required for DNA-binding (By similarity).|Required for transcriptional activation (By similarity).				cell cycle	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)	16	Esophageal squamous(14;0.0058)					AATATTGAACGCTATCTTAAG	0.303000														42			39		0	0	1	0	0
INTS10	55174	broad.mit.edu	37	8	19675794	19675794	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:19675794G>A	uc022asn.1	+	1	269	c.138G>A	c.(136-138)atG>atA	p.M46I	INTS10_uc003wzj.3_Missense_Mutation_p.M46I	NM_018142	NP_060612	Q9NVR2	INT10_HUMAN	Homo sapiens integrator complex subunit 10 (INTS10), mRNA.	46					snRNA processing	integrator complex	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	20				Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)		AGTATGAGATGTACACCATCG	0.587000														82			31		0	0	1	0	0
MYLK2	85366	broad.mit.edu	37	20	30414481	30414481	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:30414481T>C	uc002wwq.2	+	6	1148	c.1046T>C	c.(1045-1047)aTc>aCc	p.I349T	MYLK2_uc002wws.2_5'Flank	NM_033118	NP_149109	Q9H1R3	MYLK2_HUMAN	Homo sapiens myosin light chain kinase 2 (MYLK2), mRNA.	349	Protein kinase.				cardiac muscle tissue morphogenesis|regulation of muscle filament sliding		ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			TATGCAGCCATCGAGACTCCG	0.577000														42			5		0	0	1	0	0
WDR16	146845	broad.mit.edu	37	17	9532104	9532104	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:9532104G>A	uc010coc.3	+	9	1400	c.1171G>A	c.(1171-1173)Gac>Aac	p.D391N	WDR16_uc002gly.3_Missense_Mutation_p.D381N|WDR16_uc002glz.3_Missense_Mutation_p.D313N			Q8N1V2	WDR16_HUMAN	Homo sapiens WD repeat domain 16 (WDR16), transcript variant 2, mRNA.	381						cytoplasm|intracellular membrane-bounded organelle	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						CCACGGCATCGACTTCATGAG	0.527000														35			15		0	0	1	0	0
HPS3	84343	broad.mit.edu	37	3	148880648	148880648	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:148880648C>T	uc003ewu.1	+	12	2604	c.2464C>T	c.(2464-2466)Cga>Tga	p.R822*	CP_uc011bnr.2_Non-coding_Transcript|HPS3_uc011bnq.1_Nonsense_Mutation_p.R657*|HPS3_uc003ewv.1_Non-coding_Transcript	NM_032383	NP_115759	Q969F9	HPS3_HUMAN	Homo sapiens Hermansky-Pudlak syndrome 3 (HPS3), mRNA.	822						cytoplasm		p.R822*(2)		breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			CACACCATTGCGAACATCGGA	0.373000									Hermansky-Pudlak syndrome					49			26		0	0	1	0	0
POTEH	23784	broad.mit.edu	37	22	16267041	16267041	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:16267041G>T	uc010gqp.2	-	8	1460	c.1408C>A	c.(1408-1410)Ctg>Atg	p.L470M	POTEH_uc002zlg.1_Non-coding_Transcript|POTEH_uc002zlh.1_Missense_Mutation_p.L189M|POTEH_uc002zlj.1_Missense_Mutation_p.L305M	NM_001136213	NP_001129685	Q6S545	POTEH_HUMAN	Homo sapiens POTE ankyrin domain family, member H (POTEH), mRNA.	470										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						CCGTTAGTCAGGTTTTCTGGG	0.403000														446			30		2.85442e-18	3.65487e-18	1	1	0
KIAA1257	57501	broad.mit.edu	37	3	128706480	128706480	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:128706480C>T	uc003elj.4	-	3	842	c.646G>A	c.(646-648)Gtg>Atg	p.V216M	KIAA1257_uc003elg.1_Missense_Mutation_p.V216M|KIAA1257_uc003eli.4_Missense_Mutation_p.V104M	NM_020741	NP_065792	Q9ULG3	K1257_HUMAN	Homo sapiens KIAA1257 (KIAA1257), mRNA.	216										breast(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(2)	14						AAAGCTCCCACGTCGTCTGTG	0.433000														47			24		0	0	1	0	0
HMGB3P1	128872	broad.mit.edu	37	20	33421667	33421667	+	RNA	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:33421667C>T	uc002xax.3	-	0		c.599G>A								Homo sapiens high mobility group box 3 pseudogene 1 (HMGB3P1), non-coding RNA.																		CAGGAAGAATCCAGACAGTGG	0.473000														11			4		0	0	1	0	0
PEX16	9409	broad.mit.edu	37	11	45935397	45935397	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:45935397C>T	uc001nbt.3	-	8	1172	c.860G>A	c.(859-861)cGc>cAc	p.R287H	PEX16_uc001nbu.3_Missense_Mutation_p.R287H	NM_057174	NP_476515	Q9Y5Y5	PEX16_HUMAN	Homo sapiens peroxisomal biogenesis factor 16 (PEX16), transcript variant 2, mRNA.	287	Interaction with PEX19.				ER-dependent peroxisome organization|peroxisome membrane biogenesis|protein import into peroxisome matrix|protein import into peroxisome membrane	endoplasmic reticulum membrane|integral to peroxisomal membrane	protein C-terminus binding			large_intestine(2)|lung(2)|ovary(2)|skin(1)	7				GBM - Glioblastoma multiforme(35;0.223)		GAAAGGAGAGCGCAGCAGGTA	0.672000														26			17		0	0	1	0	0
FAM22F	54754	broad.mit.edu	37	9	97082793	97082793	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:97082793C>A	uc004aup.1	-	4	1086	c.1065G>T	c.(1063-1065)aaG>aaT	p.K355N		NM_017561	NP_060031	A1L443	FA22F_HUMAN	Homo sapiens family with sequence similarity 22, member F (FAM22F), mRNA.	355	Pro-rich.							p.K236N(5)		central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(2)|prostate(2)|skin(2)|urinary_tract(1)	19		Acute lymphoblastic leukemia(62;0.136)				GCAGGTGGGCCTTGGTCTCCG	0.706000														16			9		2.31682e-05	2.55671e-05	1	1	0
KIAA1109	84162	broad.mit.edu	37	4	123252487	123252487	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:123252487G>A	uc003ieh.3	+	64	11301	c.11256G>A	c.(11254-11256)acG>acA	p.T3752T	KIAA1109_uc003iem.3_Silent_p.T143T	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	Homo sapiens KIAA1109 (KIAA1109), mRNA.	3752					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						GTAGACATACGTCTCGTAAAA	0.378000														17			8		0	0	1	0	0
GTF3C1	2975	broad.mit.edu	37	16	27472858	27472858	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:27472858C>T	uc002dov.2	-	36	6183	c.6143G>A	c.(6142-6144)cGg>cAg	p.R2048Q	GTF3C1_uc002dou.3_Missense_Mutation_p.R2023Q	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 1, alpha 220kDa (GTF3C1), mRNA.	2048						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						CCAGCGCTTCCGGATGCAGCC	0.587000														87			5		0	0	1	0	0
DAPK3	1613	broad.mit.edu	37	19	3964909	3964909	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:3964909C>T	uc002lzc.1	-	1	237	c.143G>A	c.(142-144)cGc>cAc	p.R48H	DAPK3_uc002lzd.1_Missense_Mutation_p.R48H	NM_001348	NP_001339	O43293	DAPK3_HUMAN	Homo sapiens death-associated protein kinase 3 (DAPK3), mRNA.	48	Protein kinase.				apoptosis|chromatin modification|induction of apoptosis|intracellular protein kinase cascade	PML body|cytoplasm	ATP binding|leucine zipper domain binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		GGATGACAGGCGGCGCTTCTT	0.652000														35			13		0	0	1	0	0
NEUROD2	4761	broad.mit.edu	37	17	37762415	37762415	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:37762415C>A	uc002hry.3	-	1	638	c.438G>T	c.(436-438)aaG>aaT	p.K146N	NEUROD2_uc021tws.1_Missense_Mutation_p.K146N	NM_006160	NP_006151	Q15784	NDF2_HUMAN	Homo sapiens neurogenic differentiation 2 (NEUROD2), mRNA.	146	Helix-loop-helix motif.				cellular response to calcium ion|cellular response to electrical stimulus|cerebellar cortex development|negative regulation of synapse maturation|positive regulation of calcium-mediated signaling|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of synapse maturation|positive regulation of synaptic plasticity|protein ubiquitination|regulation of transcription from RNA polymerase II promoter	nucleus	E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)	8	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Lung(15;0.00549)|LUAD - Lung adenocarcinoma(14;0.0664)			AGGGCACCACCTTGCGCAGGT	0.642000														17			14		4.93089e-13	6.11992e-13	1	1	0
KCTD10	83892	broad.mit.edu	37	12	109889431	109889431	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:109889431C>T	uc001toj.1	-	6	2651	c.938G>A	c.(937-939)cGc>cAc	p.R313H	KCTD10_uc001toh.1_Non-coding_Transcript|KCTD10_uc009zvi.1_Missense_Mutation_p.R278H|KCTD10_uc001toi.1_Missense_Mutation_p.R304H|KCTD10_uc001tok.1_Missense_Mutation_p.R123H	NM_031954	NP_114160	Q9H3F6	BACD3_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 10 (KCTD10), mRNA.	304					proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination	Cul3-RING ubiquitin ligase complex|cytoplasm|nucleus|voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	10						GTCATCAGGGCGCTTGATGTG	0.706000														35			12		0	0	1	0	0
PCDHB18	54660	broad.mit.edu	37	5	140615604	140615604	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140615604C>T	uc003ljc.1	+	0	1667	c.1319C>T	c.(1318-1320)cCc>cTc	p.P440L						Homo sapiens protocadherin beta 18 pseudogene (PCDHB18), non-coding RNA.											endometrium(9)|lung(7)|ovary(1)|urinary_tract(1)	18						CTGCTGCCGCCCCAGGACCCG	0.657000														70			38		0	0	1	0	0
E2F8	79733	broad.mit.edu	37	11	19246308	19246308	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:19246308G>A	uc001mpm.3	-	12	3023	c.2501C>T	c.(2500-2502)aCc>aTc	p.T834I	E2F8_uc009yhv.3_Non-coding_Transcript|E2F8_uc001mpn.4_Missense_Mutation_p.T834I	NM_024680	NP_078956	A0AVK6	E2F8_HUMAN	Homo sapiens E2F transcription factor 8 (E2F8), transcript variant 1, mRNA.	834					cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GGATGAGCTGGTTGGCTTGGT	0.488000														74			11		0	0	1	0	0
FBXO47	494188	broad.mit.edu	37	17	37111187	37111187	+	Splice_Site	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:37111187C>A	uc002hrc.2	-	5	630	c.430_splice	c.e5-1	p.V144_splice		NM_001008777	NP_001008777	Q5MNV8	FBX47_HUMAN	Homo sapiens F-box protein 47 (FBXO47), mRNA.	144										NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	20						AGCAGGAAACCTGTAAAGAAA	0.333000														28			13		1.49906e-05	1.66078e-05	1	1	0
FKBP15	23307	broad.mit.edu	37	9	115950167	115950167	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:115950167G>T	uc004bgs.2	-	13	1442	c.1289C>A	c.(1288-1290)tCt>tAt	p.S430Y	FKBP15_uc010muu.1_Missense_Mutation_p.S494Y|FKBP15_uc011lxc.1_Missense_Mutation_p.S11Y|FKBP15_uc011lxd.1_Missense_Mutation_p.S362Y|FKBP15_uc010mut.1_Missense_Mutation_p.S298Y|FKBP15_uc004bgt.2_Missense_Mutation_p.S430Y	NM_015258	NP_056073	Q5T1M5	FKB15_HUMAN	Homo sapiens FK506 binding protein 15, 133kDa (FKBP15), mRNA.	430					endocytosis|protein folding	axon|early endosome	actin binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						CCCAGTAACAGATGGCTGAGG	0.463000														21			3		0.150653	0.152248	1	1	0
abParts	0	broad.mit.edu	37	22	22453493	22453493	+	RNA	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:22453493G>A	uc021wml.1	+	6		c.614G>A								Parts of antibodies, mostly variable regions.																		ACAAACACTCGCTCTTCTGGG	0.567000														63			47		0	0	1	0	0
TMEM184C	55751	broad.mit.edu	37	4	148546069	148546069	+	Missense_Mutation	SNP	C	T	T	rs142288581		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:148546069C>T	uc003ila.4	+	3	975	c.406C>T	c.(406-408)Cgg>Tgg	p.R136W		NM_018241	NP_060711	Q9NVA4	T184C_HUMAN	Homo sapiens transmembrane protein 184C (TMEM184C), mRNA.	136						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(2)|prostate(1)	16						TCTAACTAACCGGTATCCAAA	0.383000														63			47		0	0	1	0	0
KIAA0232	9778	broad.mit.edu	37	4	6864544	6864544	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:6864544A>G	uc003gjr.4	+	6	2898	c.2435A>G	c.(2434-2436)aAt>aGt	p.N812S	KIAA0232_uc003gjq.4_Missense_Mutation_p.N812S	NM_014743	NP_055558	Q92628	K0232_HUMAN	Homo sapiens KIAA0232 (KIAA0232), transcript variant 1, mRNA.	812							ATP binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						CAAGTATGTAATGAAAGTCCA	0.343000														67			9		0	0	1	0	0
POLE	5426	broad.mit.edu	37	12	133202895	133202895	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:133202895G>A	uc001uks.1	-	45	6383	c.6339C>T	c.(6337-6339)tcC>tcT	p.S2113S	POLE_uc001ukq.1_Silent_p.S323S|POLE_uc001ukr.1_Silent_p.S917S|POLE_uc010tbq.1_Non-coding_Transcript	NM_006231	NP_006222	Q07864	DPOE1_HUMAN	Homo sapiens polymerase (DNA directed), epsilon (POLE), mRNA.	2113					DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity|chromatin binding|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		TGGTGTCCAGGGACAGCACCT	0.607000								DNA polymerases (catalytic subunits)						20			6		0	0	1	0	0
PLA2G15	23659	broad.mit.edu	37	16	68293208	68293208	+	Missense_Mutation	SNP	G	A	A	rs138261353		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:68293208G>A	uc002evr.3	+	5	970	c.887G>A	c.(886-888)cGc>cAc	p.R296H	PLA2G15_uc010vld.2_3'UTR|PLA2G15_uc010vle.2_Missense_Mutation_p.R202H|PLA2G15_uc010vlf.2_Missense_Mutation_p.R96H|PLA2G15_uc002evs.3_Missense_Mutation_p.R117H	NM_012320	NP_036452	Q8NCC3	PAG15_HUMAN	Homo sapiens phospholipase A2, group XV (PLA2G15), mRNA.	296					fatty acid catabolic process	extracellular region|lysosome	lysophospholipase activity|phosphatidylcholine-sterol O-acyltransferase activity|phospholipid binding			kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(3)|skin(1)	12						CGGGACTACCGCAAGTTCTTC	0.582000														29			30		0	0	1	0	0
MCM7	4176	broad.mit.edu	37	7	99690594	99690594	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:99690594C>T	uc003usw.1	-	14	2631	c.2121G>A	c.(2119-2121)tgG>tgA	p.W707*	MCM7_uc003usv.1_Nonsense_Mutation_p.W531*|MCM7_uc003usx.1_Nonsense_Mutation_p.W531*|DD413568_uc022aif.1_5'Flank	NM_005916	NP_005907	P33993	MCM7_HUMAN	Homo sapiens minichromosome maintenance complex component 7 (MCM7), transcript variant 1, mRNA.	707	Interaction with ATRIP.				DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint|regulation of phosphorylation|response to DNA damage stimulus	MCM complex|chromatin	ATP binding|protein binding			endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)				Atorvastatin(DB01076)	CATTGACCTGCCAGACATTGA	0.587000														29			36		0	0	1	0	0
CELSR1	9620	broad.mit.edu	37	22	46774548	46774548	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:46774548G>A	uc003bhw.1	-	22	7323	c.7323C>T	c.(7321-7323)gtC>gtT	p.V2441V	CELSR1_uc011arc.1_Silent_p.V762V	NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila) (CELSR1), mRNA.	2441	GPS.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		ACTGGCAGGCGACATGTGTCC	0.657000														4			4		0	0	1	0	0
CHPF	79586	broad.mit.edu	37	2	220404123	220404123	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:220404123C>T	uc002vmc.4	-	3	2537	c.2310G>A	c.(2308-2310)gaG>gaA	p.E770E	CHPF_uc010zlh.2_Silent_p.E608E	NM_024536	NP_001182660	Q8IZ52	CHSS2_HUMAN	Homo sapiens chondroitin polymerizing factor (CHPF), transcript variant 1, mRNA.	770						Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	21		Renal(207;0.0183)		Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		TGTTGCCCTGCTCCTGTTCAA	0.667000														12			10		0	0	1	0	0
SLC22A17	51310	broad.mit.edu	37	14	23818480	23818480	+	Splice_Site	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:23818480C>T	uc001wjl.3	-	3	763	c.526_splice	c.e3+1	p.R176_splice	SLC22A17_uc010akk.3_Splice_Site|SLC22A17_uc001wjm.3_Splice_Site_p.R176_splice|SLC22A17_uc001wjn.3_Splice_Site|SLC22A17_uc010akl.1_Missense_Mutation_p.R176H	NM_020372	NP_065105	Q8WUG5	S22AH_HUMAN	Homo sapiens solute carrier family 22, member 17 (SLC22A17), transcript variant 1, mRNA.	176					siderophore transport	integral to organelle membrane|integral to plasma membrane|vacuolar membrane	transmembrane receptor activity|transmembrane transporter activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00643)		GTGCCACTTACGCATCAGGTA	0.617000														42			23		0	0	1	0	0
SGSM3	27352	broad.mit.edu	37	22	40800570	40800570	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:40800570C>T	uc003ayu.1	+	5	585	c.376C>T	c.(376-378)Cgg>Tgg	p.R126W	SGSM3_uc010gyc.1_Missense_Mutation_p.R126W|SGSM3_uc011aos.1_Missense_Mutation_p.R59W|SGSM3_uc011aot.1_Missense_Mutation_p.R63W	NM_015705	NP_056520	Q96HU1	SGSM3_HUMAN	Homo sapiens small G protein signaling modulator 3 (SGSM3), mRNA.	126	Rab-GAP TBC.				Rap protein signal transduction|cell cycle arrest	cytoplasm	Rab GTPase activator activity|Rab GTPase binding			cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)	19						GCTGTGGATGCGGCTCTCTGG	0.592000														14			12		0	0	1	0	0
TLR3	7098	broad.mit.edu	37	4	187004232	187004232	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:187004232C>A	uc003iyq.3	+	3	1493	c.1392C>A	c.(1390-1392)tcC>tcA	p.S464S	TLR3_uc011ckz.2_Silent_p.S187S|TLR3_uc003iyr.3_Silent_p.S187S	NM_003265	NP_003256	O15455	TLR3_HUMAN	Homo sapiens toll-like receptor 3 (TLR3), mRNA.	464					I-kappaB phosphorylation|MyD88-independent toll-like receptor signaling pathway|activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|inflammatory response|innate immune response|negative regulation of osteoclast differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		TCTATCTTTCCTACAACAAGT	0.468000														52			36		7.04047e-22	9.13111e-22	1	1	0
TRAPPC9	83696	broad.mit.edu	37	8	141381153	141381153	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:141381153C>T	uc003yvh.2	-	7	1570	c.1555G>A	c.(1555-1557)Gcg>Acg	p.A519T	TRAPPC9_uc003yvj.2_Missense_Mutation_p.A421T|TRAPPC9_uc003yvi.1_Missense_Mutation_p.A412T	NM_031466	NP_001153844	Q96Q05	TPPC9_HUMAN	Homo sapiens trafficking protein particle complex 9 (TRAPPC9), transcript variant 1, mRNA.	421					cell differentiation	Golgi apparatus|endoplasmic reticulum				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						CCAGGCTCCGCGATGCTTGGG	0.597000														41			25		0	0	1	0	0
MARVELD2	153562	broad.mit.edu	37	5	68715841	68715841	+	Missense_Mutation	SNP	G	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:68715841G>C	uc003jwq.3	+	1	703	c.629G>C	c.(628-630)tGt>tCt	p.C210S	MARVELD2_uc010ixf.3_Missense_Mutation_p.C210S|MARVELD2_uc003jws.1_Non-coding_Transcript	NM_001038603	NP_001033692	Q8N4S9	MALD2_HUMAN	Homo sapiens MARVEL domain containing 2 (MARVELD2), transcript variant 1, mRNA.	210	MARVEL.				sensory perception of sound	integral to membrane|tight junction				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(4)|skin(1)|urinary_tract(1)	15		Lung NSC(167;0.000937)|Prostate(74;0.0187)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;7.31e-57)|Epithelial(20;1.05e-52)|all cancers(19;2.63e-48)|Lung(70;0.0183)		GTCTTTGCTTGTGTCACAGCT	0.502000														108			10		0	0	1	0	0
GON4L	54856	broad.mit.edu	37	1	155649201	155649201	+	Splice_Site	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155649201G>A	uc010pgi.2	-	3	731	c.539_splice	c.e3+1	p.R180_splice	GON4L_uc021paz.1_Splice_Site_p.R42_splice|GON4L_uc010pgg.2_5'Flank|GON4L_uc010pgh.2_Splice_Site_p.R31_splice|GON4L_uc009wqt.3_Splice_Site_p.R31_splice|GON4L_uc001flh.3_Splice_Site_p.R180_splice|GON4L_uc001fll.3_Splice_Site_p.R42_splice|GON4L_uc001flk.3_Splice_Site_p.R31_splice|GON4L_uc001flm.3_Splice_Site_p.R31_splice|GON4L_uc009wqu.3_Splice_Site|GON4L_uc009wqv.3_Splice_Site|GON4L_uc009wqw.3_Splice_Site_p.R31_splice|GON4L_uc001flj.3_Splice_Site_p.R42_splice|GON4L_uc001fli.3_Splice_Site_p.R42_splice|GON4L_uc001flo.3_Splice_Site|GON4L_uc001fln.3_Splice_Site_p.R108_splice|GON4L_uc010pgj.2_Splice_Site_p.R108_splice|GON4L_uc001flp.3_Splice_Site_p.R42_splice|GON4L_uc009wqx.3_Splice_Site_p.R180_splice|GON4L_uc010pgk.2_Splice_Site_p.R180_splice	NM_001198903	NP_001185832	Q3T8J9	GON4L_HUMAN	Homo sapiens YY1 associated protein 1 (YY1AP1), transcript variant 10, mRNA.	631					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					CTAGCCTACCGTAGAGCTTGA	0.453000														51			20		0	0	1	0	0
PARL	55486	broad.mit.edu	37	3	183585821	183585821	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:183585821G>A	uc003fmd.3	-	1	212	c.153C>T	c.(151-153)tgC>tgT	p.C51C	PARL_uc003fme.3_Silent_p.C51C	NM_018622	NP_061092	Q9H300	PARL_HUMAN	Homo sapiens presenilin associated, rhomboid-like (PARL), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	51					proteolysis	integral to membrane|mitochondrial inner membrane|nucleus	serine-type endopeptidase activity			endometrium(2)|large_intestine(3)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	17	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.21e-41)|Epithelial(37;1.34e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			TTCTGAATCCGCATTTTTGTT	0.423000														39			30		0	0	1	0	0
ANKMY2	57037	broad.mit.edu	37	7	16642099	16642099	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:16642099G>T	uc003sti.3	-	8	1291	c.1047C>A	c.(1045-1047)caC>caA	p.H349Q	ANKMY2_uc010ktz.3_Non-coding_Transcript	NM_020319	NP_064715	Q8IV38	ANKY2_HUMAN	Homo sapiens ankyrin repeat and MYND domain containing 2 (ANKMY2), mRNA.	349						cilium	zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	23	Lung NSC(10;0.103)|all_lung(11;0.204)			UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		GAGTAAACCAGTGTGTTTTCT	0.368000														166			9		3.09899e-07	3.55757e-07	1	1	0
FAM20B	9917	broad.mit.edu	37	1	179013184	179013184	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:179013184G>A	uc001gmc.3	+	1	495	c.202G>A	c.(202-204)Gcc>Acc	p.A68T		NM_014864	NP_055679	O75063	XYLK_HUMAN	Homo sapiens family with sequence similarity 20, member B (FAM20B), mRNA.	68						Golgi membrane|integral to membrane	ATP binding|kinase activity|phosphotransferase activity, alcohol group as acceptor			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3)	14						GGAGATTGCAGCCCAGTGGGT	0.582000														43			14		0	0	1	0	0
ARHGEF37	389337	broad.mit.edu	37	5	148996239	148996239	+	Missense_Mutation	SNP	G	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:148996239G>C	uc003lra.1	+	4	632	c.568G>C	c.(568-570)Gcc>Ccc	p.A190P		NM_001001669	NP_001001669	A1IGU5	ARH37_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 37 (ARHGEF37), mRNA.	190	DH.				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3)	17						AGTCCCTGATGCCAGTGCCTA	0.517000														34			20		0	0	1	0	0
CD55	1604	broad.mit.edu	37	1	207499017	207499017	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:207499017C>T	uc001hfq.4	+	3	823	c.529C>T	c.(529-531)Cca>Tca	p.P177S	CD55_uc001hfr.4_Missense_Mutation_p.P177S|CD55_uc010psf.2_Non-coding_Transcript|CD55_uc009xcf.3_Missense_Mutation_p.P113S|CD55_uc009xce.3_Missense_Mutation_p.P177S	NM_000574	NP_000565	P08174	DAF_HUMAN	Homo sapiens CD55 molecule, decay accelerating factor for complement (Cromer blood group) (CD55), transcript variant 1, mRNA.	177	Sushi 3.				complement activation, classical pathway|elevation of cytosolic calcium ion concentration|innate immune response|respiratory burst	anchored to membrane|extracellular region|integral to plasma membrane|membrane raft|soluble fraction	receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	16					Chloramphenicol(DB00446)	GATTGATGTACCAGGTGGCAT	0.343000														101			20		0	0	1	0	0
TRIM37	4591	broad.mit.edu	37	17	57158493	57158493	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:57158493G>A	uc002iwy.4	-	5	901	c.457C>T	c.(457-459)Cgt>Tgt	p.R153C	TRIM37_uc002iwz.4_Missense_Mutation_p.R153C|TRIM37_uc002ixa.4_Missense_Mutation_p.R31C|TRIM37_uc010woc.2_Missense_Mutation_p.R119C	NM_001005207	NP_056109	O94972	TRI37_HUMAN	Homo sapiens tripartite motif containing 37 (TRIM37), transcript variant 2, mRNA.	153						perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					TCCATGAGACGCCGACGAAGT	0.318000									Mulibrey Nanism					71			61		0	0	1	0	0
SLC35D1	23169	broad.mit.edu	37	1	67513002	67513002	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:67513002G>A	uc001ddk.2	-	6	966	c.582C>T	c.(580-582)aaC>aaT	p.N194N	SLC35D1_uc010oph.2_Silent_p.N115N	NM_015139	NP_055954	Q9NTN3	S35D1_HUMAN	Homo sapiens solute carrier family 35 (UDP-glucuronic acid/UDP-N-acetylgalactosamine dual transporter), member D1 (SLC35D1), mRNA.	194					UDP-glucuronate biosynthetic process|chondroitin sulfate biosynthetic process|xenobiotic metabolic process	integral to endoplasmic reticulum membrane	UDP-N-acetylgalactosamine transmembrane transporter activity|UDP-glucuronic acid transmembrane transporter activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)	10					Lorazepam(DB00186)	TTAGGACATCGTTTATCAGAA	0.338000														31			25		0	0	1	0	0
SLC22A10	387775	broad.mit.edu	37	11	63064818	63064818	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:63064818G>A	uc009yor.3	+	2	758	c.550G>A	c.(550-552)Gcc>Acc	p.A184T	SLC22A10_uc010rmo.1_Non-coding_Transcript|SLC22A10_uc001nwu.4_Non-coding_Transcript|SLC22A10_uc010rmp.1_Intron	NM_001039752	NP_001034841	Q63ZE4	S22AA_HUMAN	Homo sapiens solute carrier family 22, member 10 (SLC22A10), mRNA.	184						integral to membrane	transmembrane transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GCTCCAGCTTGCCATTACTGA	0.413000														63			39		0	0	1	0	0
PARP12	64761	broad.mit.edu	37	7	139734114	139734114	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:139734114G>T	uc003vvl.1	-	7	2216	c.1342C>A	c.(1342-1344)Ctg>Atg	p.L448M	PARP12_uc010lnf.1_Non-coding_Transcript	NM_022750	NP_073587	Q9H0J9	PAR12_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 12 (PARP12), mRNA.	448	WWE 2.			VQKNLVY -> MGGFGQH (in Ref. 4).		nucleus	NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19	Melanoma(164;0.0142)					CCATAGACCAGGTTTTTCTGA	0.408000														9			17		1.00905e-13	1.25782e-13	1	1	0
CAND1	55832	broad.mit.edu	37	12	67696122	67696122	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:67696122T>C	uc001stn.2	+	7	1457	c.1020T>C	c.(1018-1020)agT>agC	p.S340S	CAND1_uc001sto.2_Silent_p.S18S	NM_018448	NP_060918	Q86VP6	CAND1_HUMAN	Homo sapiens cullin-associated and neddylation-dissociated 1 (CAND1), mRNA.	340	Asp-rich.				cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		ATGAATACAGTGATGATGATG	0.368000														101			61		0	0	1	0	0
PPP4C	5531	broad.mit.edu	37	16	30096138	30096138	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:30096138G>A	uc002dwe.3	+	7	891	c.756G>A	c.(754-756)acG>acA	p.T252T	BOLA2_uc010bzb.1_Intron|PPP4C_uc002dwf.3_Silent_p.T252T	NM_002720	NP_002711	P60510	PP4C_HUMAN	Homo sapiens protein phosphatase 4, catalytic subunit (PPP4C), mRNA.	252					microtubule cytoskeleton organization|regulation of double-strand break repair via homologous recombination	centrosome|nucleus	NF-kappaB-inducing kinase activity|metal ion binding|protein binding|protein serine/threonine phosphatase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|lung(2)|pancreas(1)|skin(1)|urinary_tract(1)	9						TCAATGAGACGGTGCTCACTG	0.612000														80			48		0	0	1	0	0
DNAI2	64446	broad.mit.edu	37	17	72297261	72297261	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:72297261T>G	uc002jkf.3	+	7	1051	c.941T>G	c.(940-942)tTg>tGg	p.L314W	DNAI2_uc002jkg.3_Missense_Mutation_p.L314W|DNAI2_uc010dfp.3_Non-coding_Transcript	NM_023036	NP_075462	Q9GZS0	DNAI2_HUMAN	Homo sapiens dynein, axonemal, intermediate chain 2 (DNAI2), transcript variant 1, mRNA.	314					cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						AAGGAACAGTTGGAAAATGCC	0.562000									Kartagener syndrome					81			55		0	0	1	0	0
PLA1A	51365	broad.mit.edu	37	3	119334871	119334871	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:119334871G>A	uc003ecu.3	+	5	743	c.677G>A	c.(676-678)cGg>cAg	p.R226Q	PLA1A_uc003ecv.3_Missense_Mutation_p.R210Q|PLA1A_uc011bjc.2_Missense_Mutation_p.R53Q|PLA1A_uc003ecw.3_Non-coding_Transcript	NM_015900	NP_001193890	Q53H76	PLA1A_HUMAN	Homo sapiens phospholipase A1 member A (PLA1A), transcript variant 1, mRNA.	226					lipid catabolic process|phosphatidylserine metabolic process	extracellular region	phospholipase A1 activity			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TTGGGTATTCGGATTCCCGTT	0.537000														22			4		0	0	1	0	0
CASZ1	54897	broad.mit.edu	37	1	10720038	10720038	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:10720038T>C	uc001aro.3	-	5	1381	c.1061A>G	c.(1060-1062)gAg>gGg	p.E354G	CASZ1_uc001arp.1_Missense_Mutation_p.E354G|CASZ1_uc009vmx.2_Missense_Mutation_p.E378G|CASZ1_uc001arq.1_Missense_Mutation_p.E213G	NM_001079843	NP_001073312	Q86V15	CASZ1_HUMAN	Homo sapiens castor zinc finger 1 (CASZ1), transcript variant 1, mRNA.	354					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)		GGGGCTGCCCTCCCCGGGTTT	0.642000														86			8		0	0	1	0	0
P2RX4	5025	broad.mit.edu	37	12	121666640	121666640	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:121666640G>A	uc001tzr.3	+	6	1022	c.718G>A	c.(718-720)Gga>Aga	p.G240R	P2RX4_uc010szr.1_Non-coding_Transcript|P2RX4_uc010szs.1_Non-coding_Transcript|P2RX4_uc009zxc.3_Missense_Mutation_p.G213R|P2RX4_uc010szt.2_Missense_Mutation_p.G139R|P2RX4_uc009zxb.3_Non-coding_Transcript	NM_002560	NP_002551	Q99571	P2RX4_HUMAN	Homo sapiens purinergic receptor P2X, ligand-gated ion channel, 4 (P2RX4), mRNA.	240					endothelial cell activation|negative regulation of cardiac muscle hypertrophy|positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|regulation of apoptosis|regulation of blood pressure|regulation of sodium ion transport|relaxation of cardiac muscle|response to ATP|response to fluid shear stress|sensory perception of pain|tissue homeostasis	cell junction|perinuclear region of cytoplasm	cadherin binding|copper ion binding|extracellular ATP-gated cation channel activity|protein homodimerization activity|purinergic nucleotide receptor activity|receptor binding|zinc ion binding	p.E237fs*97(1)		breast(1)|kidney(4)|large_intestine(4)|lung(7)|prostate(1)	17	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GGAGAACGCAGGACACAGTTT	0.557000														18			41		0	0	1	0	0
PHACTR4	65979	broad.mit.edu	37	1	28818246	28818246	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:28818246G>A	uc001bpy.3	+	10	2228	c.1993G>A	c.(1993-1995)Gat>Aat	p.D665N	PHACTR4_uc001bpv.1_Non-coding_Transcript|PHACTR4_uc001bpw.3_Missense_Mutation_p.D655N|PHACTR4_uc001bpx.3_Missense_Mutation_p.D639N	NM_023923	NP_076412	Q8IZ21	PHAR4_HUMAN	Homo sapiens phosphatase and actin regulator 4 (PHACTR4), transcript variant 2, mRNA.	655							actin binding|protein phosphatase inhibitor activity	p.Q664E(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		AGATGCTCAAGATTATGACCG	0.468000														46			32		0	0	1	0	0
KRT35	3886	broad.mit.edu	37	17	39635742	39635742	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:39635742C>T	uc002hws.3	-	2	611	c.568G>A	c.(568-570)Gtg>Atg	p.V190M		NM_002280	NP_002271	Q92764	KRT35_HUMAN	Homo sapiens keratin 35 (KRT35), mRNA.	190	Coil 1B.|Rod.				anatomical structure morphogenesis	intermediate filament	protein binding|structural molecule activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.000286)				CGCAGGGACACCTCCGTCTCA	0.587000														40			29		0	0	1	0	0
GLYATL1	92292	broad.mit.edu	37	11	58723154	58723154	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:58723154G>A	uc001nnh.2	+	6	706	c.656G>A	c.(655-657)cGa>cAa	p.R219Q	GLYATL1_uc001nnf.3_Missense_Mutation_p.R188Q|LOC283194_uc001nng.1_Intron|GLYATL1_uc001nni.2_Missense_Mutation_p.R188Q|GLYATL1_uc001nnj.2_Missense_Mutation_p.R188Q	NM_080661	NP_542392	Q969I3	GLYL1_HUMAN	Homo sapiens glycine-N-acyltransferase-like 1 (GLYATL1), transcript variant 1, mRNA.	188						mitochondrion	glycine N-acyltransferase activity	p.R219Q(2)|p.R188Q(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34					Glycine(DB00145)	AACTGGAAGCGAGGGAAGAAT	0.498000														56			11		0	0	1	0	0
MRPL41	64975	broad.mit.edu	37	9	140446582	140446582	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:140446582C>T	uc022bqj.1	+	0	49	c.49C>T	c.(49-51)Cga>Tga	p.R17*	PNPLA7_uc010ncj.1_5'Flank|PNPLA7_uc004cnf.2_5'Flank|MRPL41_uc004cnh.4_Nonsense_Mutation_p.R17*	NM_032477	NP_115866	Q8IXM3	RM41_HUMAN	Homo sapiens mitochondrial ribosomal protein L41 (MRPL41), nuclear gene encoding mitochondrial protein, mRNA.	17					apoptosis|cell cycle|translation	mitochondrial large ribosomal subunit	structural constituent of ribosome			breast(1)|lung(1)	2	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000415)|Epithelial(140;0.00106)		GGGTGCGGACCGAATGAGCAA	0.751000														19			6		0	0	1	0	0
ZNF470	388566	broad.mit.edu	37	19	57089032	57089032	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:57089032T>G	uc002qnl.4	+	5	1911	c.1235T>G	c.(1234-1236)cTt>cGt	p.L412R	ZNF470_uc010etn.3_Intron	NM_001001668	NP_001001668	Q6ECI4	ZN470_HUMAN	Homo sapiens zinc finger protein 470 (ZNF470), mRNA.	412					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.L412L(1)		endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		CACATAGGACTTATTCAGCAT	0.418000														98			11		0	0	1	0	0
MICALL1	85377	broad.mit.edu	37	22	38333770	38333770	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:38333770A>C	uc003aui.3	+	14	2716	c.2441A>C	c.(2440-2442)aAg>aCg	p.K814T		NM_033386	NP_203744	Q8N3F8	MILK1_HUMAN	Homo sapiens MICAL-like 1 (MICALL1), mRNA.	814						cytoplasm|cytoskeleton	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	24	Melanoma(58;0.045)					GAGGAAGACAAGATGTTGGAA	0.547000														106			51		0	0	1	0	0
CHAT	1103	broad.mit.edu	37	10	50828611	50828611	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:50828611C>T	uc001jhz.2	+	3	803	c.650C>T	c.(649-651)gCc>gTc	p.A217V	CHAT_uc001jhv.1_Missense_Mutation_p.A99V|CHAT_uc001jhx.1_Missense_Mutation_p.A99V|CHAT_uc001jhy.1_Missense_Mutation_p.A99V|CHAT_uc001jia.2_Missense_Mutation_p.A135V|CHAT_uc010qgs.1_Missense_Mutation_p.A99V	NM_020549	NP_066266	P28329	CLAT_HUMAN	Homo sapiens choline O-acetyltransferase (CHAT), transcript variant M, mRNA.	217					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	TCCAGCCCTGCCGTGATCTTT	0.617000														49			34		0	0	1	0	0
KIF19	124602	broad.mit.edu	37	17	72349048	72349048	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:72349048C>T	uc002jkm.4	+	14	2207	c.2069C>T	c.(2068-2070)gCc>gTc	p.A690V		NM_153209	NP_694941	Q2TAC6	KIF19_HUMAN	Homo sapiens kinesin family member 19 (KIF19), mRNA.	690					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						AGCTCTGATGCCCAGCACCTG	0.627000														36			25		0	0	1	0	0
DSC3	1825	broad.mit.edu	37	18	28584320	28584320	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:28584320C>T	uc002kwj.4	-	12	2056	c.1901G>A	c.(1900-1902)cGt>cAt	p.R634H	DSC3_uc002kwi.4_Missense_Mutation_p.R634H	NM_001941	NP_001932	Q14574	DSC3_HUMAN	Homo sapiens desmocollin 3 (DSC3), transcript variant Dsc3a, mRNA.	634	Cadherin 5.				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			ATATGAAAGACGGGCAGCTGT	0.343000														35			27		0	0	1	0	0
EIF2C3	192669	broad.mit.edu	37	1	36474597	36474597	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:36474597C>A	uc001bzp.3	+	7	1326	c.981C>A	c.(979-981)ccC>ccA	p.P327P	EIF2C3_uc001bzq.3_Silent_p.P93P	NM_024852	NP_079128	Q9H9G7	AGO3_HUMAN	Homo sapiens eukaryotic translation initiation factor 2C, 3 (EIF2C3), transcript variant 1, mRNA.	327	PAZ.				mRNA catabolic process|negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|cytosol	RNA binding|protein binding			NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(11)|skin(1)|upper_aerodigestive_tract(4)	33		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CGCACCTTCCCTGTCTGCAAG	0.453000														24			12		4.36969e-10	5.24943e-10	1	1	0
FUBP1	8880	broad.mit.edu	37	1	78433850	78433850	+	Splice_Site	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:78433850G>A	uc001dii.3	-	3	339	c.250_splice	c.e3+1	p.S84_splice	FUBP1_uc001dih.4_Splice_Site|FUBP1_uc010orm.2_Splice_Site_p.S105_splice	NM_003902	NP_003893	Q96AE4	FUBP1_HUMAN	Homo sapiens far upstream element (FUSE) binding protein 1 (FUBP1), mRNA.	84					transcription from RNA polymerase II promoter	nucleus	RNA binding|protein binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding	p.?(1)		central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						AATACTTACAGTCATTTTGAG	0.318000			"""F, N"""		oligodendroglioma									27			30		0	0	1	0	0
BFSP2	8419	broad.mit.edu	37	3	133118940	133118940	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:133118940C>T	uc003epn.1	+	0	151	c.13C>T	c.(13-15)Cga>Tga	p.R5*		NM_003571	NP_003562	Q13515	BFSP2_HUMAN	Homo sapiens beaded filament structural protein 2, phakinin (BFSP2), mRNA.	5	Head.				response to stimulus|visual perception	cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|urinary_tract(1)	13						GAGTGAGAGGCGAGTGGTAGT	0.622000														98			10		0	0	1	0	0
ARPP21	10777	broad.mit.edu	37	7	38305111	38305111	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:38305111G>A	uc003tge.1	-	4	973	c.596C>T	c.(595-597)tCc>tTc	p.S199F	ARPP21_uc022aby.1_5'UTR|ARPP21_uc003tfv.3_Intron|ARPP21_uc022abz.1_Intron|ARPP21_uc003tfz.1_Intron|ARPP21_uc003tgb.2_5'UTR|ARPP21_uc003tgc.1_5'UTR|ARPP21_uc003tgd.1_5'UTR|ARPP21_uc010kxi.1_Non-coding_Transcript|ARPP21_uc003tgf.1_Non-coding_Transcript|ARPP21_uc003tgj.1_Non-coding_Transcript|ARPP21_uc003tgg.1_Non-coding_Transcript|ARPP21_uc003tgh.1_Non-coding_Transcript|ARPP21_uc003tgi.1_Non-coding_Transcript			Q9UBL0	ARP21_HUMAN	Homo sapiens TCR gamma alternate reading frame protein (TARP), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	707	R3H.					cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						CCCCTCCTGGGATCCCAGAAT	0.423000														130			151		0	0	1	0	0
RBBP6	5930	broad.mit.edu	37	16	24581121	24581121	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:24581121C>A	uc002dmh.3	+	16	4150	c.3110C>A	c.(3109-3111)cCt>cAt	p.P1037H	RBBP6_uc010vcb.1_Missense_Mutation_p.P904H|RBBP6_uc002dmi.3_Missense_Mutation_p.P1003H|RBBP6_uc010bxr.3_Intron|RBBP6_uc002dmk.3_Missense_Mutation_p.P870H	NM_006910	NP_008841	Q7Z6E9	RBBP6_HUMAN	Homo sapiens retinoblastoma binding protein 6 (RBBP6), transcript variant 1, mRNA.	1037	Interaction with RB1 (By similarity).				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		ATTGTAAAACCTGCTAAAGGA	0.403000														46			41		3.76604e-16	4.76394e-16	1	1	0
OR2M7	391196	broad.mit.edu	37	1	248487549	248487549	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:248487549G>A	uc010pzk.2	-	0	322	c.322C>T	c.(322-324)Ctt>Ttt	p.L108F		NM_001004691	NP_001004691	Q8NG81	OR2M7_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 7 (OR2M7), mRNA.	108					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	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)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCGGAGCCAAGCAATGATATA	0.453000														214			11		0	0	1	0	0
ST8SIA5	29906	broad.mit.edu	37	18	44260279	44260279	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:44260279G>A	uc010xcy.1	-	7	1533	c.965C>T	c.(964-966)tCg>tTg	p.S322L	ST8SIA5_uc002lci.1_Missense_Mutation_p.S133L|ST8SIA5_uc002lcj.1_Missense_Mutation_p.S286L|ST8SIA5_uc010xcz.1_Missense_Mutation_p.S255L	NM_013305	NP_037437	O15466	SIA8E_HUMAN	Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5 (ST8SIA5), mRNA.	286					glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane				kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						CCAGTAGCGCGACACGTTGAC	0.617000														30			15		0	0	1	0	0
INHBB	3625	broad.mit.edu	37	2	121106699	121106699	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:121106699G>A	uc002tmn.2	+	1	519	c.473G>A	c.(472-474)cGc>cAc	p.R158H		NM_002193	NP_002184	P09529	INHBB_HUMAN	Homo sapiens inhibin, beta B (INHBB), mRNA.	158					activin receptor signaling pathway|cellular response to insulin stimulus|cellular response to starvation|defense response|fat cell differentiation|growth|negative regulation of follicle-stimulating hormone secretion|negative regulation of hepatocyte growth factor biosynthetic process|negative regulation of insulin secretion|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation	extracellular region|perinuclear region of cytoplasm	cytokine activity|growth factor activity|hormone activity|host cell surface receptor binding|protein homodimerization activity			NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(4)|pancreas(2)|skin(2)	15		Prostate(154;0.122)				TCCCGGGTCCGCCTATACTTC	0.557000														39			21		0	0	1	0	0
GPN2	54707	broad.mit.edu	37	1	27206198	27206198	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:27206198C>A	uc001bnd.1	-	4	1185	c.903G>T	c.(901-903)caG>caT	p.Q301H	BC016143_uc021ojq.1_Intron	NM_018066	NP_060536	Q9H9Y4	GPN2_HUMAN	Homo sapiens GPN-loop GTPase 2 (GPN2), mRNA.	301							GTP binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9						GCTCCACTGACTGGTTCGAGG	0.587000														12			8		1.58986e-06	1.80238e-06	1	1	0
ZNF442	79973	broad.mit.edu	37	19	12460635	12460635	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:12460635T>C	uc002mtr.1	-	5	2375	c.1764A>G	c.(1762-1764)cgA>cgG	p.R588R	ZNF442_uc010xmk.1_Silent_p.R519R	NM_030824	NP_110451	Q9H7R0	ZN442_HUMAN	Homo sapiens zinc finger protein 442 (ZNF442), mRNA.	588					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	31						TTTCATGTCCTCGAAGGAAAC	0.428000														94			12		0	0	1	0	0
BV13S6J2.1	0	broad.mit.edu	37	7	142180690	142180690	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:142180690C>A	uc011krz.2	-	1	218	c.169G>T	c.(169-171)Gac>Tac	p.D57Y	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|BV13S6J2.1_uc011krx.2_Intron|BV13S6J2.1_uc011ksa.2_Missense_Mutation_p.D57Y|BV13S6J2.1_uc022anl.1_5'Flank					SubName: Full=V_segment translation product; Flags: Fragment;																		ATGCCTGGGTCTTGTCGATAC	0.507000														467			40		6.33695e-27	8.31592e-27	1	1	0
MORC4	79710	broad.mit.edu	37	X	106185816	106185816	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:106185816G>T	uc004emu.4	-	14	2580	c.2305C>A	c.(2305-2307)Ctg>Atg	p.L769M	MORC4_uc004emp.4_Intron|MORC4_uc004emv.4_Missense_Mutation_p.L769M|MORC4_uc004emw.4_Missense_Mutation_p.L517M	NM_024657	NP_078933	Q8TE76	MORC4_HUMAN	Homo sapiens MORC family CW-type zinc finger 4 (MORC4), transcript variant 1, mRNA.	769							ATP binding|zinc ion binding			endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	28						AATTCTTCCAGCTCTCTCTGG	0.458000														168			14		4.36969e-10	5.24943e-10	1	1	0
WDR49	151790	broad.mit.edu	37	3	167245747	167245747	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:167245747G>A	uc003fev.1	-	10	1713	c.1409C>T	c.(1408-1410)tCa>tTa	p.S470L	WDR49_uc003feu.1_Missense_Mutation_p.S295L|WDR49_uc011bpd.1_Intron|WDR49_uc003few.1_Intron	NM_178824	NP_849146	Q8IV35	WDR49_HUMAN	Homo sapiens WD repeat domain 49 (WDR49), mRNA.	470										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						AGGTTGGAATGATCTTATCAG	0.403000														57			8		0	0	1	0	0
CD81	975	broad.mit.edu	37	11	2411695	2411695	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:2411695G>T	uc001lwf.1	+	1	353	c.120G>T	c.(118-120)caG>caT	p.Q40H		NM_004356	NP_004347	P60033	CD81_HUMAN	Homo sapiens CD81 molecule (CD81), mRNA.	40					activation of MAPK activity|cell proliferation|phosphatidylinositol biosynthetic process|positive regulation of 1-phosphatidylinositol 4-kinase activity|positive regulation of cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|protein localization|regulation of immune response|virion attachment, binding of host cell surface receptor	integral to plasma membrane	protein binding			endometrium(1)|lung(3)|skin(1)	5		all_epithelial(84;0.000161)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.0137)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.000338)|LUSC - Lung squamous cell carcinoma(625;0.191)		ATGACCCGCAGACCACCAACC	0.617000														97			10		1.58986e-06	1.80238e-06	1	1	0
FAT2	2196	broad.mit.edu	37	5	150901209	150901209	+	Missense_Mutation	SNP	G	A	A	rs142359154		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:150901209G>A	uc003lue.4	-	17	10958	c.10945C>T	c.(10945-10947)Cgg>Tgg	p.R3649W	FAT2_uc003lud.4_Missense_Mutation_p.R342W	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	3649					epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGCAGGTTCCGCCAGTGGTCA	0.607000														30			9		0	0	1	0	0
GABRR1	2569	broad.mit.edu	37	6	89899961	89899961	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:89899961G>A	uc003pna.2	-	5	1033	c.578C>T	c.(577-579)aCa>aTa	p.T193I	GABRR1_uc011dzv.1_Missense_Mutation_p.T170I	NM_002042	NP_002033	P24046	GBRR1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) receptor, rho 1 (GABRR1), mRNA.	193					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	35		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Picrotoxin(DB00466)	TGCAGTTACTGTAACCCTAGG	0.438000														51			7		0	0	1	0	0
VWA5A	4013	broad.mit.edu	37	11	123988405	123988405	+	Silent	SNP	C	T	T	rs145152039	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:123988405C>T	uc001pzu.3	+	3	278	c.69C>T	c.(67-69)agC>agT	p.S23S	VWA5A_uc001pzr.3_Silent_p.S23S|VWA5A_uc001pzs.3_Silent_p.S23S|VWA5A_uc010sae.2_Silent_p.S39S|VWA5A_uc001pzt.3_Silent_p.S23S	NM_001130142	NP_055437	O00534	VMA5A_HUMAN	Homo sapiens von Willebrand factor A domain containing 5A (VWA5A), transcript variant 3, mRNA.	23	VIT.							p.S23S(2)		autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						TCTCTGTGAGCGTGAACATTT	0.458000														43			24		0	0	1	0	0
SLC20A2	6575	broad.mit.edu	37	8	42329808	42329808	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:42329808C>T	uc003xpe.3	-	1	470	c.101G>A	c.(100-102)gGt>gAt	p.G34D	SLC20A2_uc010lxl.3_Missense_Mutation_p.G34D|SLC20A2_uc010lxm.3_Missense_Mutation_p.G34D	NM_006749	NP_006740	Q08357	S20A2_HUMAN	Homo sapiens solute carrier family 20 (phosphate transporter), member 2 (SLC20A2), mRNA.	34					interspecies interaction between organisms	integral to plasma membrane|membrane fraction	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity			breast(1)|endometrium(6)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|stomach(1)	26	all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;5.73e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00419)|Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869)			CACGGCTGTACCAAAGGAGTT	0.478000														97			57		0	0	1	0	0
BTG3	10950	broad.mit.edu	37	21	18977277	18977277	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:18977277T>G	uc002ykl.3	-	2	472	c.212A>C	c.(211-213)gAt>gCt	p.D71A	BTG3_uc002ykk.3_Missense_Mutation_p.D71A	NM_001130914	NP_001124386	Q14201	BTG3_HUMAN	Homo sapiens BTG family, member 3 (BTG3), transcript variant 1, mRNA.	71					negative regulation of cell proliferation|negative regulation of mitotic cell cycle	cytoplasm				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)	8				Epithelial(23;0.000283)|all cancers(11;0.0012)|Lung(58;0.0191)|OV - Ovarian serous cystadenocarcinoma(11;0.0206)|COAD - Colon adenocarcinoma(22;0.0315)|LUSC - Lung squamous cell carcinoma(23;0.0703)|Colorectal(24;0.0971)		TTTCAGGACATCAGGATCAAC	0.423000														41			13		0	0	1	0	0
SLC4A1AP	22950	broad.mit.edu	37	2	27887975	27887975	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:27887975G>T	uc002rlk.4	+	1	1116	c.834G>T	c.(832-834)gaG>gaT	p.E278D	SUPT7L_uc002rlh.1_5'Flank|SUPT7L_uc002rli.1_5'Flank|SUPT7L_uc010ymf.1_5'Flank|SUPT7L_uc010ezh.1_5'Flank|SUPT7L_uc002rlj.1_5'Flank	NM_018158	NP_060628	Q9BWU0	NADAP_HUMAN	Homo sapiens solute carrier family 4 (anion exchanger), member 1, adaptor protein (SLC4A1AP), mRNA.	278						cytoplasm|nucleus	double-stranded RNA binding|protein binding	p.E278*(1)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.155)					AGGGACCAGAGGAAGACCGAG	0.453000														60			25		3.01185e-09	3.57228e-09	1	1	0
MAP2K2	5605	broad.mit.edu	37	19	4117563	4117563	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:4117563G>A	uc002lzk.3	-	1	411	c.157C>T	c.(157-159)Cgg>Tgg	p.R53W		NM_030662	NP_109587	P36507	MP2K2_HUMAN	Homo sapiens mitogen-activated protein kinase kinase 2 (MAP2K2), mRNA.	53					ERK1 and ERK2 cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Ras protein signal transduction|Toll signaling pathway|activation of MAPK activity|activation of MAPKK activity|axon guidance|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|extracellular region	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity						Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTTCCAGCCGCTTCTTCTGC	0.592000														43			30		0	0	1	0	0
ESRRG	2104	broad.mit.edu	37	1	216824353	216824353	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:216824353C>T	uc001hkw.2	-	2	724	c.551G>A	c.(550-552)cGc>cAc	p.R184H	ESRRG_uc009xdp.1_Missense_Mutation_p.R161H|ESRRG_uc001hky.1_Missense_Mutation_p.R161H|ESRRG_uc001hkz.2_Intron|ESRRG_uc010puc.2_Missense_Mutation_p.R161H|ESRRG_uc001hla.2_Missense_Mutation_p.R161H|ESRRG_uc001hlb.2_Missense_Mutation_p.R161H|ESRRG_uc010pud.2_5'UTR|ESRRG_uc021pja.1_Intron|ESRRG_uc001hlc.1_Missense_Mutation_p.R161H|ESRRG_uc001hld.1_Missense_Mutation_p.R161H|ESRRG_uc001hkx.2_Missense_Mutation_p.R189H|ESRRG_uc009xdo.2_Missense_Mutation_p.R161H|ESRRG_uc001hle.2_Missense_Mutation_p.R161H|ESRRG_uc021piz.1_Missense_Mutation_p.R161H|Mir_598_uc021pjb.1_5'Flank	NM_001438	NP_001230435	P62508	ERR3_HUMAN	Homo sapiens estrogen-related receptor gamma (ESRRG), transcript variant 1, mRNA.	184					positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	p.R184S(1)		endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	CTTCATGAAGCGGCAAGCCTG	0.448000														61			40		0	0	1	0	0
BRAT1	221927	broad.mit.edu	37	7	2578059	2578059	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:2578059C>T	uc003smi.3	-	13	2398	c.2110G>A	c.(2110-2112)Gcc>Acc	p.A704T	BRAT1_uc003smh.4_Missense_Mutation_p.A136T	NM_152743	NP_689956	Q6PJG6	BRAT1_HUMAN	Homo sapiens BRCA1-associated ATM activator 1 (BRAT1), mRNA.	704					response to ionizing radiation	nucleus	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23						GCACAAAAGGCGAAGTCAAAG	0.617000														61			13		0	0	1	0	0
SARDH	1757	broad.mit.edu	37	9	136568090	136568090	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:136568090C>T	uc004cep.4	-	12	1750	c.1616G>A	c.(1615-1617)cGc>cAc	p.R539H	SARDH_uc004ceo.3_Missense_Mutation_p.R539H|SARDH_uc011mdo.2_Missense_Mutation_p.R371H|SARDH_uc011mdn.2_Missense_Mutation_p.R539H|SARDH_uc004cen.3_5'UTR	NM_001134707	NP_009032	Q9UL12	SARDH_HUMAN	Homo sapiens sarcosine dehydrogenase (SARDH), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	539					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		CAGCAGCCTGCGGTAGGCGTA	0.652000														21			7		0	0	1	0	0
TRIM29	23650	broad.mit.edu	37	11	119998186	119998186	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:119998186G>A	uc001pwz.3	-	2	1116	c.992C>T	c.(991-993)gCg>gTg	p.A331V	TRIM29_uc010rzi.2_Missense_Mutation_p.A70V|TRIM29_uc010rzj.2_Missense_Mutation_p.A64V|TRIM29_uc001pxa.3_Non-coding_Transcript	NM_012101	NP_036233	Q14134	TRI29_HUMAN	Homo sapiens tripartite motif containing 29 (TRIM29), mRNA.	331					transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		CTGCTCCAGCGCAGCCCTCAC	0.592000														59			73		0	0	1	0	0
LTA4H	4048	broad.mit.edu	37	12	96394849	96394849	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:96394849G>A	uc001ten.1	-	18	1822	c.1754C>T	c.(1753-1755)gCt>gTt	p.A585V	LTA4H_uc010suy.1_Missense_Mutation_p.A547V|LTA4H_uc010suz.1_3'UTR	NM_000895	NP_000886	P09960	LKHA4_HUMAN	Homo sapiens leukotriene A4 hydrolase (LTA4H), mRNA.	585					hormone biosynthetic process|inflammatory response|leukotriene biosynthetic process|peptide catabolic process|prostanoid metabolic process|proteolysis	cytosol|nucleus	aminopeptidase activity|epoxide hydrolase activity|leukotriene-A4 hydrolase activity|metallopeptidase activity|protein binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(3)|lung(4)|skin(2)|stomach(1)	12						GGTTCGGACAGCTTGATCATG	0.453000														70			26		0	0	1	0	0
SMARCA5	8467	broad.mit.edu	37	4	144445597	144445597	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:144445597C>T	uc003ijg.3	+	3	959	c.497C>T	c.(496-498)aCt>aTt	p.T166I		NM_003601	NP_003592	O60264	SMCA5_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5 (SMARCA5), mRNA.	166					CenH3-containing nucleosome assembly at centromere|nucleosome positioning|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	NURF complex|RSF complex|condensed chromosome|nucleolus|nucleoplasm	ATP binding|ATPase activity|DNA binding|helicase activity|nucleosome binding|protein binding	p.T166A(1)	EWSR1/SMARCA5(2)	endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(180;0.158)					AATGTTTGCACTCGATTTGAA	0.358000														39			16		0	0	1	0	0
MBD6	114785	broad.mit.edu	37	12	57919917	57919917	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57919917C>A	uc001soj.1	+	5	1390	c.1166C>A	c.(1165-1167)cCt>cAt	p.P389H	MBD6_uc001sok.1_Missense_Mutation_p.P256H|MBD6_uc001sol.1_5'Flank	NM_052897	NP_443129	Q96DN6	MBD6_HUMAN	Homo sapiens methyl-CpG binding domain protein 6 (MBD6), mRNA.	389	Pro-rich.					chromosome|nucleus	DNA binding|chromatin binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						CGGAGCCGTCCTCGGGCCCCT	0.622000														36			21		1.01871e-10	1.23424e-10	1	1	0
CCDC68	80323	broad.mit.edu	37	18	52586565	52586565	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:52586565C>A	uc002lfs.3	-	8	898	c.726G>T	c.(724-726)caG>caT	p.Q242H	CCDC68_uc002lft.3_Missense_Mutation_p.Q242H	NM_001143829	NP_079490	Q9H2F9	CCD68_HUMAN	Homo sapiens coiled-coil domain containing 68 (CCDC68), transcript variant 2, mRNA.	242										breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|stomach(1)	14				Colorectal(16;0.0256)|READ - Rectum adenocarcinoma(59;0.21)		GATGAGAGATCTGCTCCTGGA	0.453000														62			9		0.00621372	0.00645399	1	1	0
ACO2	50	broad.mit.edu	37	22	41923906	41923906	+	Splice_Site	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:41923906G>T	uc003bac.3	+	17	2109	c.2087_splice	c.e17-1	p.E696_splice	POLR3H_uc003baf.3_3'UTR|POLR3H_uc003bag.2_3'UTR|POLR3H_uc003bai.2_3'UTR	NM_001098	NP_001089	Q99798	ACON_HUMAN	Homo sapiens aconitase 2, mitochondrial (ACO2), nuclear gene encoding mitochondrial protein, mRNA.	696					citrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron ion binding|isocitrate hydro-lyase (cis-aconitate-forming) activity			breast(3)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	23						GCTTTCCAGAGACCAACCTGA	0.572000														99			8		1.12685e-05	1.25391e-05	1	1	0
NEU3	10825	broad.mit.edu	37	11	74717250	74717250	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:74717250C>T	uc001ovw.3	+	2	1255	c.1099C>T	c.(1099-1101)Cca>Tca	p.P367S	NEU3_uc001ovv.3_Missense_Mutation_p.P357S|NEU3_uc010rrl.2_Missense_Mutation_p.P258S	NM_006656	NP_006647	A8K327	A8K327_HUMAN	Homo sapiens sialidase 3 (membrane sialidase) (NEU3), mRNA.	367										kidney(2)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	11						GTACTCACACCCAACCAGTAG	0.567000														46			8		0	0	1	0	0
FGD4	121512	broad.mit.edu	37	12	32793451	32793451	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:32793451A>C	uc010ske.2	+	16	2705	c.2621A>C	c.(2620-2622)aAa>aCa	p.K874T	FGD4_uc001rlc.3_Missense_Mutation_p.K847T|FGD4_uc001rkz.3_Missense_Mutation_p.K762T|FGD4_uc001rla.3_Missense_Mutation_p.K418T|FGD4_uc001rlb.1_Intron	NM_139241	NP_640334	Q96M96	FGD4_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 4 (FGD4), mRNA.	762					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	Golgi apparatus|cytoskeleton|cytosol|filopodium|lamellipodium|ruffle	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					GAACCTAAGAAAAAATCAGAA	0.488000														42			4		0	0	1	0	0
ACTR3B	57180	broad.mit.edu	37	7	152517446	152517446	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:152517446G>A	uc003wle.1	+	6	720	c.603G>A	c.(601-603)acG>acA	p.T201T	ACTR3B_uc003wlf.1_Silent_p.T201T|ACTR3B_uc003wlg.1_Silent_p.T113T|ACTR3B_uc011kvp.1_Silent_p.T113T	NM_020445	NP_065178	Q9P1U1	ARP3B_HUMAN	Homo sapiens ARP3 actin-related protein 3 homolog B (yeast) (ACTR3B), transcript variant 1, mRNA.	201					regulation of actin filament polymerization	cell projection|cytoplasm|cytoskeleton	ATP binding|actin binding			breast(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	13		all_hematologic(28;0.0592)|Prostate(32;0.191)	OV - Ovarian serous cystadenocarcinoma(82;0.0287)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0434)		GAGATATTACGTATTTCATTC	0.468000														30			4		0	0	1	0	0
C2orf42	54980	broad.mit.edu	37	2	70408334	70408334	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:70408334C>T	uc002sgh.3	-	2	1112	c.784G>A	c.(784-786)Gct>Act	p.A262T		NM_017880	NP_060350	Q9NWW7	CB042_HUMAN	Homo sapiens chromosome 2 open reading frame 42 (C2orf42), mRNA.	262										endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	12						AATTCCTGAGCCAGTGTCTCA	0.428000														59			5		0	0	1	0	0
NPHP3	27031	broad.mit.edu	37	3	132278741	132278741	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:132278741C>T	uc003eov.4	-	18	2544	c.2164G>A	c.(2164-2166)Gtt>Att	p.V722I		NM_032169	NP_115545	Q7Z494	NPHP3_HUMAN	Homo sapiens acyl-CoA dehydrogenase family, member 11 (ACAD11), mRNA.	0					Wnt receptor signaling pathway|maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway	cilium	protein binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GCCCAGTCAACGATTTTGCTG	0.438000														20			9		0	0	1	0	0
ANO3	63982	broad.mit.edu	37	11	26556046	26556046	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:26556046C>T	uc001mqt.4	+	8	1058	c.913C>T	c.(913-915)Cga>Tga	p.R305*	ANO3_uc010rdr.2_Nonsense_Mutation_p.R289*|ANO3_uc010rds.2_Nonsense_Mutation_p.R144*|ANO3_uc010rdt.2_Nonsense_Mutation_p.R159*	NM_031418	NP_113606	Q9BYT9	ANO3_HUMAN	Homo sapiens anoctamin 3 (ANO3), mRNA.	305						chloride channel complex	chloride channel activity	p.T304A(1)|p.R305Q(1)		breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						CAATGCTACTCGAAGCAGAAT	0.348000														53			22		0	0	1	0	0
CNNM3	26505	broad.mit.edu	37	2	97494867	97494867	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:97494867G>A	uc002swy.3	+	6	2079	c.2055G>A	c.(2053-2055)gcG>gcA	p.A685A	CNNM3_uc002swz.3_Silent_p.A637A	NM_017623	NP_060093	Q8NE01	CNNM3_HUMAN	Homo sapiens cyclin M3 (CNNM3), transcript variant 1, mRNA.	685					ion transport	integral to membrane|plasma membrane	protein binding			NS(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(2)|skin(1)|urinary_tract(2)	13						CCACCACAGCGGCAGGTGAGT	0.622000														30			4		0	0	1	0	0
VPS13D	55187	broad.mit.edu	37	1	12359362	12359362	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:12359362T>C	uc001atv.3	+	24	6278	c.6137T>C	c.(6136-6138)gTa>gCa	p.V2046A	VPS13D_uc001atw.3_Missense_Mutation_p.V2046A|VPS13D_uc001atx.3_Missense_Mutation_p.V1234A	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA.	2046					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		AATCTGATTGTAGCAAATTTG	0.433000														48			36		0	0	1	0	0
IWS1	55677	broad.mit.edu	37	2	128262702	128262702	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:128262702C>A	uc002ton.2	-	2	1080	c.777G>T	c.(775-777)caG>caT	p.Q259H	IWS1_uc010yzl.1_Non-coding_Transcript|BC022892_uc002too.1_5'Flank|IWS1_uc010fma.2_Non-coding_Transcript	NM_017969	NP_060439	Q96ST2	IWS1_HUMAN	Homo sapiens IWS1 homolog (S. cerevisiae) (IWS1), mRNA.	259	3 X approximate tandem repeats.|Glu-rich.				transcription, DNA-dependent	nucleus	DNA binding			cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		AGTCACTGGCCTGGTGCCTCG	0.537000														199			10		4.68919e-08	5.46558e-08	1	1	0
ABI3BP	25890	broad.mit.edu	37	3	100617649	100617649	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:100617649G>A	uc003dun.3	-	3	524	c.439C>T	c.(439-441)Cca>Tca	p.P147S	ABI3BP_uc003duo.2_Missense_Mutation_p.P140S|ABI3BP_uc003dup.4_Missense_Mutation_p.P140S	NM_015429	NP_056244	Q7Z7G0	TARSH_HUMAN	Homo sapiens ABI family, member 3 (NESH) binding protein (ABI3BP), mRNA.	147	Fibronectin type-III 1.					extracellular space				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						TCATGGTGTGGGTTGATGAGG	0.473000														34			37		0	0	1	0	0
MAGEC2	51438	broad.mit.edu	37	X	141291666	141291666	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:141291666C>A	uc022cfj.1	-	0	108	c.108G>T	c.(106-108)gaG>gaT	p.E36D	MAGEC2_uc004fbu.2_Missense_Mutation_p.E36D	NM_016249	NP_057333	Q9UBF1	MAGC2_HUMAN	Homo sapiens melanoma antigen family C, 2 (MAGEC2), mRNA.	36	Poly-Glu.					cytoplasm|nucleus				NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					AGGCTTCCTCCTCTTCCTCAT	0.527000										HNSCC(46;0.14)				107			70		8.27458e-37	1.09768e-36	1	1	0
QARS	5859	broad.mit.edu	37	3	49141388	49141388	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49141388G>A	uc003cvx.3	-	2	288	c.283C>T	c.(283-285)Cgg>Tgg	p.R95W	QARS_uc011bcd.2_5'UTR|QARS_uc003cvy.3_5'UTR|QARS_uc011bce.2_Missense_Mutation_p.R84W|QARS_uc011bcf.1_Missense_Mutation_p.R95W	NM_005051	NP_005042	P47897	SYQ_HUMAN	Homo sapiens glutaminyl-tRNA synthetase (QARS), mRNA.	95					glutaminyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|glutamine-tRNA ligase activity|protein binding			breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	L-Glutamine(DB00130)	GGGTGACTCCGCACATACTCA	0.547000														16			10		0	0	1	0	0
COL4A2	1284	broad.mit.edu	37	13	111118375	111118375	+	Silent	SNP	C	T	T	rs148709279	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:111118375C>T	uc001vqx.3	+	25	2293	c.2004C>T	c.(2002-2004)gcC>gcT	p.A668A		NM_001846	NP_001837	P08572	CO4A2_HUMAN	Homo sapiens collagen, type IV, alpha 2 (COL4A2), mRNA.	668	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			TGAAAAGGGCCGTTGGAGGTG	0.512000														30			24		0	0	1	0	0
SWT1	54823	broad.mit.edu	37	1	185183647	185183647	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:185183647G>A	uc001grg.4	+	13	2095	c.1981G>A	c.(1981-1983)Gca>Aca	p.A661T	SWT1_uc001grh.4_Missense_Mutation_p.A661T	NM_001105518	NP_060143	Q5T5J6	SWT1_HUMAN	Homo sapiens SWT1 RNA endoribonuclease homolog (S. cerevisiae) (SWT1), transcript variant 2, mRNA.	661										breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1)	41						AGCTAATAAGGCAGTGGATTT	0.303000														75			25		0	0	1	0	0
SLC45A3	85414	broad.mit.edu	37	1	205633685	205633685	+	Missense_Mutation	SNP	C	T	T	rs149769508	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:205633685C>T	uc001hda.1	-	1	439	c.100G>A	c.(100-102)Gca>Aca	p.A34T	SLC45A3_uc010prn.1_5'Flank|SLC45A3_uc010pro.1_5'Flank|SLC45A3_uc010prp.1_Non-coding_Transcript|SLC45A3_uc010prq.1_Intron	NM_033102	NP_149093	Q96JT2	S45A3_HUMAN	Homo sapiens solute carrier family 45, member 3 (SLC45A3), mRNA.	34					transmembrane transport	integral to membrane			SLC45A3/BRAF(2)|SLC45A3/ELK4(18)|SLC45A3/ETV1(3)|SLC45A3/ETV5_ENST00000306376(2)|SLC45A3/ERG(50)	cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|ovary(3)|prostate(5)	21	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			GTGATGCCTGCGGCCAAACAC	0.592000			T	"""ETV1, ETV5, ELK4, ERG"""	prostate									114			8		0	0	1	0	0
ATAD5	79915	broad.mit.edu	37	17	29161853	29161853	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:29161853G>A	uc002hfs.1	+	1	1097	c.754G>A	c.(754-756)Gta>Ata	p.V252I	ATAD5_uc002hft.1_Missense_Mutation_p.V149I	NM_024857	NP_079133	Q96QE3	ATAD5_HUMAN	Homo sapiens ATPase family, AAA domain containing 5 (ATAD5), mRNA.	252					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				TAGAGATAACGTAACTGAAGC	0.348000														71			27		0	0	1	0	0
DEFB132	400830	broad.mit.edu	37	20	238458	238458	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:238458C>A	uc002wdb.3	+	0	82	c.39C>A	c.(37-39)ttC>ttA	p.F13L		NM_207469	NP_997352	Q7Z7B7	DB132_HUMAN	Homo sapiens defensin, beta 132 (DEFB132), mRNA.	13					defense response to bacterium	extracellular region				breast(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	4						CCCTCGGATTCCTGACCCAGG	0.522000														27			5		0.00116845	0.00123466	1	1	0
MAP1A	4130	broad.mit.edu	37	15	43821341	43821341	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:43821341G>A	uc001zrt.3	+	3	8137	c.7670G>A	c.(7669-7671)gGc>gAc	p.G2557D		NM_002373	NP_002364	P78559	MAP1A_HUMAN	Homo sapiens microtubule-associated protein 1A (MAP1A), mRNA.	2557						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	CCCAGGCCTGGCCATGACCCA	0.637000														21			19		0	0	1	0	0
PDGFD	80310	broad.mit.edu	37	11	103870879	103870879	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:103870879G>A	uc001phq.3	-	1	601	c.229C>T	c.(229-231)Ctg>Ttg	p.L77L	PDGFD_uc001php.3_Silent_p.L71L	NM_025208	NP_079484	Q9GZP0	PDGFD_HUMAN	Homo sapiens platelet derived growth factor D (PDGFD), transcript variant 1, mRNA.	77	CUB.				positive regulation of cell division	Golgi membrane|endoplasmic reticulum lumen|extracellular region	growth factor activity			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)		GTCAGGAGCAGGTTCCTGGGG	0.483000														104			48		0	0	1	0	0
TLR3	7098	broad.mit.edu	37	4	187005136	187005136	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:187005136G>T	uc003iyq.3	+	3	2397	c.2296G>T	c.(2296-2298)Gat>Tat	p.D766Y	TLR3_uc011ckz.2_Missense_Mutation_p.D489Y|TLR3_uc003iyr.3_Missense_Mutation_p.D489Y	NM_003265	NP_003256	O15455	TLR3_HUMAN	Homo sapiens toll-like receptor 3 (TLR3), mRNA.	766	TIR.				I-kappaB phosphorylation|MyD88-independent toll-like receptor signaling pathway|activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|inflammatory response|innate immune response|negative regulation of osteoclast differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		TGCCTATAAAGATAAGGATTG	0.368000														74			51		1.19451e-25	1.5642e-25	1	1	0
ARID2	196528	broad.mit.edu	37	12	46245184	46245184	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:46245184C>A	uc001ros.1	+	14	3278	c.3278C>A	c.(3277-3279)cCt>cAt	p.P1093H	ARID2_uc001ror.3_Missense_Mutation_p.P1093H|ARID2_uc009zkg.1_Missense_Mutation_p.P549H|ARID2_uc009zkh.1_Missense_Mutation_p.P720H|ARID2_uc001rou.1_Missense_Mutation_p.P427H	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	Homo sapiens AT rich interactive domain 2 (ARID, RFX-like) (ARID2), mRNA.	1093	Gln-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		GCAAGAGCTCCTAGCCCTCAG	0.517000			"""N, S, F"""		hepatocellular carcinoma									55			6		0.27861	0.27975	1	1	0
OLFM1	10439	broad.mit.edu	37	9	138011443	138011443	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:138011443C>T	uc010nar.3	+	5	896	c.877C>T	c.(877-879)Cgt>Tgt	p.R293C	OLFM1_uc004cfl.4_Missense_Mutation_p.R275C|OLFM1_uc004cfn.4_Missense_Mutation_p.R44C	NM_014279	NP_055094	Q99784	NOE1_HUMAN	Homo sapiens olfactomedin 1 (OLFM1), transcript variant 1, mRNA.	293	Olfactomedin-like.				nervous system development	endoplasmic reticulum lumen	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)	21		Myeloproliferative disorder(178;0.0333)		Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07)		CACCTCCCACCGTCTCCCCCA	0.527000														37			22		0	0	1	0	0
CAD	790	broad.mit.edu	37	2	27461971	27461971	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:27461971G>T	uc002rji.3	+	31	5286	c.5124G>T	c.(5122-5124)gaG>gaT	p.E1708D	CAD_uc010eyw.3_Missense_Mutation_p.E1645D	NM_004341	NP_004332	P27708	PYR1_HUMAN	Homo sapiens carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase (CAD), mRNA.	1708	DHOase (dihydroorotase).				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	ATP binding|aspartate binding|aspartate carbamoyltransferase activity|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	CAGGGTTAGAGACCATGCTGC	0.602000														55			5		0.0215528	0.0220531	1	1	0
DIS3L2	129563	broad.mit.edu	37	2	232894770	232894770	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:232894770C>A	uc010fxz.3	+	4	622	c.346C>A	c.(346-348)Ctt>Att	p.L116I	DIS3L2_uc002vsm.4_Non-coding_Transcript|DIS3L2_uc002vso.3_Non-coding_Transcript	NM_152383	NP_689596	Q8IYB7	DI3L2_HUMAN	Homo sapiens DIS3 mitotic control homolog (S. cerevisiae)-like 2 (DIS3L2), mRNA.	116							RNA binding|exonuclease activity|ribonuclease activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		CGTGAAACTGCTTCCCGAGGA	0.418000														79			16		3.52763e-06	3.96648e-06	1	1	0
CDH2	1000	broad.mit.edu	37	18	25583001	25583001	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:25583001G>A	uc002kwg.2	-	6	1439	c.980C>T	c.(979-981)aCt>aTt	p.T327I	CDH2_uc010xbn.1_Missense_Mutation_p.T296I	NM_001792	NP_001783	P19022	CADH2_HUMAN	Homo sapiens cadherin 2, type 1, N-cadherin (neuronal) (CDH2), mRNA.	327	Cadherin 2.				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						GATGTCACCAGTCTCATTGTT	0.438000														71			47		0	0	1	0	0
SRGAP2	23380	broad.mit.edu	37	1	206632219	206632219	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:206632219C>T	uc001hdy.3	+	18	2498	c.2497C>T	c.(2497-2499)Cgg>Tgg	p.R833W	SRGAP2_uc010pru.2_Missense_Mutation_p.R832W	NM_015326	NP_056141	O75044	FNBP2_HUMAN	Homo sapiens SLIT-ROBO Rho GTPase activating protein 2 (SRGAP2), transcript variant 1, mRNA.	920					axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			NS(1)|breast(1)|kidney(1)|lung(1)	4	Breast(84;0.137)					TCCACAGATCCGGAAGACTGC	0.552000														15			8		0	0	1	0	0
SETD3	84193	broad.mit.edu	37	14	99865307	99865307	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:99865307C>T	uc001ygc.3	-	12	1664	c.1494G>A	c.(1492-1494)ccG>ccA	p.P498P		NM_032233	NP_115609	Q86TU7	SETD3_HUMAN	Homo sapiens SET domain containing 3 (SETD3), transcript variant 1, mRNA.	498					peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|peptidyl-lysine trimethylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone methyltransferase activity (H3-K36 specific)|transcription coactivator activity	p.P498L(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25		all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866)				ATTTGGGAAGCGGAGCCTTTT	0.517000														92			38		0	0	1	0	0
CCNH	902	broad.mit.edu	37	5	86707051	86707051	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:86707051C>T	uc003kjb.3	-	1	469	c.230G>A	c.(229-231)aGa>aAa	p.R77K	CCNH_uc003kiz.1_Missense_Mutation_p.R24K|CCNH_uc003kja.3_Missense_Mutation_p.R24K	NM_001239	NP_001186118	P51946	CCNH_HUMAN	Homo sapiens cyclin H (CCNH), transcript variant 1, mRNA.	77					G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|S phase of mitotic cell cycle|mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	cyclin-dependent protein kinase activating kinase holoenzyme complex|holo TFIIH complex	protein kinase binding	p.R77K(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(2)|ovary(2)	15		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;9.01e-39)|Epithelial(54;5.08e-33)|all cancers(79;4.28e-28)		CACAACAGATCTTGGCATTGC	0.383000								Direct reversal of damage;Direct reversal of damage;Nucleotide excision repair (NER)						73			50		0	0	1	0	0
FREM1	158326	broad.mit.edu	37	9	14747275	14747275	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:14747275T>C	uc003zlm.3	-	33	6812	c.5996A>G	c.(5995-5997)cAc>cGc	p.H1999R	FREM1_uc010mic.3_Non-coding_Transcript|FREM1_uc003zlk.3_Non-coding_Transcript|FREM1_uc003zll.3_Missense_Mutation_p.H535R	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.	1999					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TCTGGGGAAGTGTGAGTCAGT	0.418000														161			15		0	0	1	0	0
SLC4A1	6521	broad.mit.edu	37	17	42334864	42334864	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:42334864C>T	uc002igf.4	-	12	1629	c.1480G>A	c.(1480-1482)Ggc>Agc	p.G494S	SLC4A1_uc021tyc.1_Intron	NM_000342	NP_000333	P02730	B3AT_HUMAN	Homo sapiens solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group) (SLC4A1), mRNA.	494	Membrane (anion exchange).				bicarbonate transport|cellular ion homeostasis	Z disc|basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity	p.G494S(2)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		AGCCAGAAGCCGATCCACACG	0.587000														38			13		0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	215844346	215844346	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:215844346C>T	uc001hku.1	-	63	14488	c.14101G>A	c.(14101-14103)Gaa>Aaa	p.E4701K		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	4701	Fibronectin type-III 32.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.E4701K(2)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GGCAATAGTTCGGAATCTATA	0.363000										HNSCC(13;0.011)				114			56		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82784980	82784980	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:82784980G>T	uc003uhx.2	-	1	1266	c.977C>A	c.(976-978)cCt>cAt	p.P326H	PCLO_uc003uhv.2_Missense_Mutation_p.P326H	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	310	Gln-rich.|Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TGCAGGCCCAGGCTGTGATTT	0.552000														38			10		4.68919e-08	5.46558e-08	1	1	0
ZNF154	7710	broad.mit.edu	37	19	58213677	58213677	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58213677C>A	uc010euf.3	-	2	880	c.640G>T	c.(640-642)Gta>Tta	p.V214L	ZNF551_uc002qpx.3_Intron|ZNF154_uc002qpy.2_Non-coding_Transcript	NM_001085384	NP_001078853	Q13106	ZN154_HUMAN	Homo sapiens zinc finger protein 154 (ZNF154), mRNA.	214						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(7)|lung(3)	12		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TGAGGTCGTACTGCAGTGTGA	0.443000														84			27		8.24728e-16	1.0418e-15	1	1	0
PIK3CG	5294	broad.mit.edu	37	7	106509841	106509841	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:106509841C>T	uc003vdv.4	+	1	1920	c.1835C>T	c.(1834-1836)gCc>gTc	p.A612V	PIK3CG_uc003vdu.3_Missense_Mutation_p.A612V|PIK3CG_uc003vdw.3_Missense_Mutation_p.A612V	NM_002649	NP_002640	P48736	PK3CG_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, gamma polypeptide (PIK3CG), mRNA.	612					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						CAATTGTTGGCCAGAAGGGAA	0.428000														110			54		0	0	1	0	0
MIR31HG	554202	broad.mit.edu	37	9	21455840	21455840	+	RNA	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:21455840G>A	uc003zpe.2	-	3		c.575C>T								Homo sapiens MIR31 host gene (non-protein coding) (MIR31HG), non-coding RNA.																		AACACCTGGAGACCTGCTTGG	0.542000														3			3		0	0	1	0	0
PPP1R7	5510	broad.mit.edu	37	2	242122067	242122067	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:242122067C>T	uc002wat.1	+	9	921	c.912C>T	c.(910-912)aaC>aaT	p.N304N	PPP1R7_uc002wau.1_Silent_p.N261N	NM_002712	NP_002703	Q15435	PP1R7_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 7 (PPP1R7), mRNA.	304						cytoplasm|nucleus	protein binding|protein phosphatase type 1 regulator activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)	23		all_cancers(19;6.1e-33)|all_epithelial(40;1.07e-13)|Breast(86;0.000141)|Renal(207;0.00528)|all_lung(227;0.0446)|Ovarian(221;0.104)|Lung NSC(271;0.115)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.92e-32)|all cancers(36;5.35e-29)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-14)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.24e-08)|BRCA - Breast invasive adenocarcinoma(100;3.56e-06)|Lung(119;0.000588)|LUSC - Lung squamous cell carcinoma(224;0.0048)|Colorectal(34;0.0137)|COAD - Colon adenocarcinoma(134;0.096)		CCCAGATGAACGACAATCTCC	0.597000														40			14		0	0	1	0	0
ADRBK2	157	broad.mit.edu	37	22	26114289	26114289	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:26114289C>T	uc003abx.4	+	18	1879	c.1732C>T	c.(1732-1734)Cgt>Tgt	p.R578C	ADRBK2_uc003aby.4_Non-coding_Transcript	NM_005160	NP_005151	P35626	ARBK2_HUMAN	Homo sapiens adrenergic, beta, receptor kinase 2 (ADRBK2), mRNA.	578	PH.						ATP binding|beta-adrenergic receptor kinase activity|signal transducer activity	p.R578L(1)		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)	TCAGTGGCAGCGTCGCTATTT	0.488000														63			50		0	0	1	0	0
MAP6	4135	broad.mit.edu	37	11	75298562	75298562	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:75298562C>A	uc001owu.3	-	3	2049	c.1984G>T	c.(1984-1986)Ggt>Tgt	p.G662C		NM_033063	NP_149052	Q96JE9	MAP6_HUMAN	Homo sapiens microtubule-associated protein 6 (MAP6), transcript variant 1, mRNA.	662	Pro-rich.					Golgi apparatus|microtubule|perinuclear region of cytoplasm	calmodulin binding	p.G662R(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	19	Ovarian(111;0.11)					ACCATGGAACCTTGATTCTTT	0.498000														74			35		3.11337e-16	3.94066e-16	1	1	0
VEGFB	7423	broad.mit.edu	37	11	64003358	64003358	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:64003358G>A	uc001nyw.3	+	2	427	c.177G>A	c.(175-177)gaG>gaA	p.E59E	VEGFB_uc001nyx.3_Silent_p.E59E	NM_003377	NP_003368	P49765	VEGFB_HUMAN	Homo sapiens vascular endothelial growth factor B (VEGFB), transcript variant VEGFB-186, mRNA.	59					anti-apoptosis|induction of positive chemotaxis|negative regulation of gene expression|negative regulation of neuron apoptosis|platelet activation|platelet degranulation|positive regulation of ERK1 and ERK2 cascade|positive regulation of cell division|positive regulation of endothelial cell proliferation|positive regulation of mast cell chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of vascular endothelial growth factor receptor signaling pathway|positive regulation of vascular wound healing|vascular endothelial growth factor receptor signaling pathway	extracellular region|extracellular space|membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity|heparin binding|vascular endothelial growth factor receptor 1 binding			endometrium(2)|large_intestine(2)|prostate(1)|stomach(1)	6						TGACTGTGGAGCTCATGGGCA	0.627000														18			8		0	0	1	0	0
CES4A	283848	broad.mit.edu	37	16	67029675	67029675	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:67029675C>A	uc002eqv.3	+	1	387	c.272C>A	c.(271-273)cCt>cAt	p.P91H	CES4A_uc010vix.2_Missense_Mutation_p.P68H|CES4A_uc002eqw.3_Missense_Mutation_p.P28H	NM_001190201	NP_001177130	Q5XG92	EST4A_HUMAN	Homo sapiens carboxylesterase 4A (CES4A), transcript variant 3, mRNA.	68						extracellular region	carboxylesterase activity			large_intestine(2)|liver(2)|lung(4)|ovary(1)	9						AGGTTTGCACCTCCAGAACCC	0.567000														72			26		2.48779e-11	3.03834e-11	1	1	0
SLC25A25	114789	broad.mit.edu	37	9	130868649	130868649	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:130868649G>T	uc004btb.3	+	7	1146	c.1026G>T	c.(1024-1026)atG>atT	p.M342I	SLC25A25_uc004btc.3_Missense_Mutation_p.M328I|SLC25A25_uc004btd.3_Missense_Mutation_p.M340I|SLC25A25_uc004bte.3_Missense_Mutation_p.M308I|SLC25A25_uc004btf.3_Missense_Mutation_p.M205I	NM_001006641	NP_001006644	Q6KCM7	SCMC2_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 25 (SLC25A25), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	308					transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)	10						AGACCCGGATGGCGCTGCGGA	0.657000														44			6		8.12818e-05	8.84769e-05	1	1	0
SLC38A8	146167	broad.mit.edu	37	16	84065494	84065494	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:84065494G>A	uc002fhg.1	-	3	610	c.610C>T	c.(610-612)Cgt>Tgt	p.R204C		NM_001080442	NP_001073911	A6NNN8	S38A8_HUMAN	Homo sapiens solute carrier family 38, member 8 (SLC38A8), mRNA.	204					amino acid transport|sodium ion transport	integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						TGGGACTCACGCACGAGGCCC	0.622000														87			7		0	0	1	0	0
SLC22A8	9376	broad.mit.edu	37	11	62768254	62768254	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:62768254G>A	uc009yon.3	-	2	496	c.375C>T	c.(373-375)gcC>gcT	p.A125A	SLC22A8_uc001nwn.1_5'Flank|SLC22A8_uc009yom.3_Silent_p.A2A|SLC22A8_uc001nwo.3_Silent_p.A125A|SLC22A8_uc010rmm.2_Silent_p.A34A|SLC22A8_uc001nwp.2_Silent_p.A125A	NM_001184732	NP_001171665	Q8TCC7	S22A8_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 8 (SLC22A8), transcript variant 2, mRNA.	125					response to toxin	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|organic anion transmembrane transporter activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28						AGATAGACTGGGCCATCTCCT	0.542000														26			13		0	0	1	0	0
CUX2	23316	broad.mit.edu	37	12	111748382	111748382	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:111748382G>A	uc001tsa.2	+	14	1950	c.1796G>A	c.(1795-1797)cGc>cAc	p.R599H		NM_015267	NP_056082	O14529	CUX2_HUMAN	Homo sapiens cut-like homeobox 2 (CUX2), mRNA.	599						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						AAGCCCTGGCGCAAGCTCACG	0.607000														68			6		0	0	1	0	0
TRAPPC5	126003	broad.mit.edu	37	19	7747556	7747556	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:7747556C>T	uc002mhi.1	+	1	487	c.417C>T	c.(415-417)tgC>tgT	p.C139C	TRAPPC5_uc002mhj.1_Silent_p.C139C|TRAPPC5_uc002mhk.1_Silent_p.C139C|TRAPPC5_uc021unw.1_Silent_p.C139C	NM_001042462	NP_777554	Q8IUR0	TPPC5_HUMAN	Homo sapiens trafficking protein particle complex 5 (TRAPPC5), transcript variant 3, mRNA.	139					vesicle-mediated transport	endoplasmic reticulum	guanylate cyclase activity|heme binding			NS(1)|lung(2)	3						CGCTCAACTGCGCCAGCTTCA	0.627000														9			8		0	0	1	0	0
GLT25D1	79709	broad.mit.edu	37	19	17692076	17692076	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:17692076C>T	uc002nhc.1	+	11	1704	c.1692C>T	c.(1690-1692)gaC>gaT	p.D564D		NM_024656	NP_078932	Q8NBJ5	GT251_HUMAN	Homo sapiens glycosyltransferase 25 domain containing 1 (GLT25D1), mRNA.	564					lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen	procollagen galactosyltransferase activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	14						ACACAGGAGACGATGGCTATG	0.597000														127			16		0	0	1	0	0
GABBR1	2550	broad.mit.edu	37	6	29589570	29589570	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:29589570C>T	uc003nmt.4	-	9	1426	c.1090G>A	c.(1090-1092)Gga>Aga	p.G364R	GABBR1_uc003nmp.4_Missense_Mutation_p.G247R|GABBR1_uc003nms.4_Missense_Mutation_p.G247R|GABBR1_uc003nmu.4_Missense_Mutation_p.G302R|GABBR1_uc011dlr.2_Missense_Mutation_p.G187R|GABBR1_uc011dls.1_Missense_Mutation_p.G364R	NM_001470	NP_001461	Q9UBS5	GABR1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) B receptor, 1 (GABBR1), transcript variant 1, mRNA.	364					gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity	p.G364G(1)		endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)	TAGAAAAGTCCCACGATGATT	0.527000														39			18		0	0	1	0	0
CTTNBP2	83992	broad.mit.edu	37	7	117424357	117424357	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:117424357G>T	uc003vjf.3	-	4	2312	c.2220C>A	c.(2218-2220)tcC>tcA	p.S740S		NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN	Homo sapiens cortactin binding protein 2 (CTTNBP2), mRNA.	740										breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		CATCTTCACAGGAGTAATTAA	0.448000														165			59		7.59065e-32	1.00277e-31	1	1	0
BARX2	8538	broad.mit.edu	37	11	129321276	129321276	+	Silent	SNP	G	A	A	rs139211336	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:129321276G>A	uc001qfc.4	+	3	869	c.819G>A	c.(817-819)tcG>tcA	p.S273S		NM_003658	NP_003649	Q9UMQ3	BARX2_HUMAN	Homo sapiens BARX homeobox 2 (BARX2), mRNA.	273										breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	20	all_hematologic(175;0.0749)	Lung NSC(97;0.000383)|all_lung(97;0.000824)|Breast(109;0.000962)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.00929)|Lung(977;0.0245)|LUSC - Lung squamous cell carcinoma(976;0.0253)		TACCCTCTTCGGAACCCCCAC	0.542000														38			25		0	0	1	0	0
AFG3L2	10939	broad.mit.edu	37	18	12358835	12358835	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:12358835C>T	uc002kqz.2	-	7	1054	c.860G>A	c.(859-861)gGa>gAa	p.G287E		NM_006796	NP_006787	Q9Y4W6	AFG32_HUMAN	Homo sapiens AFG3 ATPase family gene 3-like 2 (S. cerevisiae) (AFG3L2), nuclear gene encoding mitochondrial protein, mRNA.	287					cell death|protein catabolic process|proteolysis	integral to membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|prostate(3)|skin(1)|stomach(3)|urinary_tract(1)	27					Adenosine triphosphate(DB00171)	ACTGAAGAGTCCGCCCATCCC	0.547000														29			19		0	0	1	0	0
NAA16	79612	broad.mit.edu	37	13	41897203	41897203	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:41897203C>T	uc001uyf.2	+	4	738	c.414C>T	c.(412-414)taC>taT	p.Y138Y	NAA16_uc010tfg.1_Non-coding_Transcript|NAA16_uc001uye.4_Silent_p.Y138Y|NAA16_uc001uyd.4_Silent_p.Y138Y	NM_024561	NP_078837	Q6N069	NAA16_HUMAN	Homo sapiens N(alpha)-acetyltransferase 16, NatA auxiliary subunit (NAA16), transcript variant 1, mRNA.	138					N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent	cytoplasm|transcription factor complex	binding			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|urinary_tract(2)	31						AGACAAGATACCAGCTTCTTC	0.353000														69			36		0	0	1	0	0
FLRT1	23769	broad.mit.edu	37	11	63884068	63884068	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:63884068T>C	uc021qks.1	+	0	329	c.329T>C	c.(328-330)gTc>gCc	p.V110A	MACROD1_uc001nyh.3_Intron|FLRT1_uc001nyi.1_Missense_Mutation_p.V110A	NM_013280	NP_037412	Q9NZU1	FLRT1_HUMAN	Homo sapiens fibronectin leucine rich transmembrane protein 1 (FLRT1), mRNA.	82					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			breast(1)|endometrium(3)|large_intestine(6)|lung(2)|prostate(1)|urinary_tract(1)	14						AACGTGCAGGTCATCTACCTA	0.572000														20			14		0	0	1	0	0
SYDE2	84144	broad.mit.edu	37	1	85648578	85648578	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:85648578C>T	uc009wcm.3	-	2	1796	c.1747G>A	c.(1747-1749)Gct>Act	p.A583T	SYDE2_uc001dku.4_Missense_Mutation_p.A583T	NM_032184	NP_115560	Q5VT97	SYDE2_HUMAN	Homo sapiens synapse defective 1, Rho GTPase, homolog 2 (C. elegans) (SYDE2), mRNA.	583					activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	20				all cancers(265;0.0126)|Epithelial(280;0.0336)		CTCTTAGCAGCGGTGGTTGTG	0.403000														160			9		0	0	1	0	0
PRRC2A	7916	broad.mit.edu	37	6	31594839	31594839	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31594839C>T	uc003nvb.4	+	10	1403	c.1154C>T	c.(1153-1155)cCg>cTg	p.P385L	PRRC2A_uc011dnv.1_Non-coding_Transcript|PRRC2A_uc003nvc.4_Missense_Mutation_p.P385L	NM_080686	NP_542417	P48634	PRC2A_HUMAN	Homo sapiens proline-rich coiled-coil 2A (PRRC2A), transcript variant 1, mRNA.	385	2 X type B repeats.|4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						AACAGCGAACCGCCCACTCCT	0.627000														28			28		0	0	1	0	0
LRP6	4040	broad.mit.edu	37	12	12397304	12397304	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:12397304G>T	uc001rah.4	-	1	483	c.341C>A	c.(340-342)tCt>tAt	p.S114Y	LRP6_uc010shl.1_Missense_Mutation_p.S114Y	NM_002336	NP_002327	O75581	LRP6_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 6 (LRP6), mRNA.	114	Beta-propeller 1.				Wnt receptor signaling pathway involved in dorsal/ventral axis specification|cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	Wnt-protein binding|coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				ATTAGTTTCAGAATCTGTCCA	0.393000														52			4		0.014758	0.0151755	1	1	0
TLN2	83660	broad.mit.edu	37	15	62939551	62939551	+	Silent	SNP	C	T	T	rs144527579	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:62939551C>T	uc002alb.4	+	0	42	c.42C>T	c.(40-42)aaC>aaT	p.N14N	MGC15885_uc010uib.1_5'Flank|MGC15885_uc002ala.3_5'Flank	NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	Homo sapiens talin 2 (TLN2), mRNA.	14					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						GCCACTGCAACGTGGTGAAGA	0.493000														45			48		0	0	1	0	0
USP31	57478	broad.mit.edu	37	16	23080469	23080469	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:23080469T>G	uc002dll.3	-	15	2957	c.2957A>C	c.(2956-2958)aAt>aCt	p.N986T	USP31_uc002dlk.3_Missense_Mutation_p.N258T|USP31_uc010vca.2_Missense_Mutation_p.N289T|USP31_uc010bxm.3_Missense_Mutation_p.N274T	NM_020718	NP_065769	Q70CQ4	UBP31_HUMAN	Homo sapiens ubiquitin specific peptidase 31 (USP31), mRNA.	986	Ser-rich.				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		GATCTGATTATTGTTATCAAA	0.532000														85			5		0	0	1	0	0
SSX2IP	117178	broad.mit.edu	37	1	85135531	85135531	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:85135531C>A	uc001dki.3	-	4	585	c.259G>T	c.(259-261)Ggt>Tgt	p.G87C	SSX2IP_uc001dkf.3_Missense_Mutation_p.G60C|SSX2IP_uc001dkh.3_Missense_Mutation_p.G87C|SSX2IP_uc010orz.2_Missense_Mutation_p.G60C|SSX2IP_uc001dkg.3_Non-coding_Transcript|SSX2IP_uc010osa.2_Missense_Mutation_p.G60C|SSX2IP_uc001dkj.3_Missense_Mutation_p.G87C|SSX2IP_uc009wci.3_Intron|SSX2IP_uc001dkk.1_Missense_Mutation_p.G83C	NM_014021	NP_001159767	Q9Y2D8	ADIP_HUMAN	Homo sapiens synovial sarcoma, X breakpoint 2 interacting protein (SSX2IP), transcript variant 5, mRNA.	87					cell adhesion	nucleus|protein complex				endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|urinary_tract(1)	19				all cancers(265;0.0053)|Epithelial(280;0.0214)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		GTCTCTTTACCTTTGGATTCT	0.363000														68			5		1.23904e-05	1.3743e-05	1	1	0
SYNPR	132204	broad.mit.edu	37	3	63466606	63466606	+	Silent	SNP	C	T	T	rs149241869	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:63466606C>T	uc003dlp.3	+	2	479	c.183C>T	c.(181-183)atC>atT	p.I61I	SYNPR_uc011bfk.2_Intron|SYNPR_uc011bfl.2_Non-coding_Transcript|SYNPR_uc003dlq.3_Silent_p.I41I|SYNPR_uc010hnt.3_Silent_p.I50I|SYNPR_uc011bfm.2_Non-coding_Transcript	NM_001130003	NP_001123475	Q8TBG9	SYNPR_HUMAN	Homo sapiens synaptoporin (SYNPR), transcript variant 1, mRNA.	41	MARVEL.					cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	transporter activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	8				BRCA - Breast invasive adenocarcinoma(55;0.000918)|KIRC - Kidney renal clear cell carcinoma(15;0.0658)|Kidney(15;0.0904)		ACCTCAGCATCGACATAGCGT	0.473000														75			51		0	0	1	0	0
DIP2C	22982	broad.mit.edu	37	10	486833	486833	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:486833C>T	uc001ifp.3	-	3	462	c.372G>A	c.(370-372)tcG>tcA	p.S124S	DIP2C_uc009xhk.1_Missense_Mutation_p.R126Q	NM_014974	NP_055789	Q9Y2E4	DIP2C_HUMAN	Homo sapiens DIP2 disco-interacting protein 2 homolog C (Drosophila) (DIP2C), mRNA.	124						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		AGGCGTCCATCGAGGTCTGCA	0.612000														32			24		0	0	1	0	0
ZNF808	388558	broad.mit.edu	37	19	53057913	53057913	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:53057913C>A	uc010epq.1	+	4	1921	c.1744C>A	c.(1744-1746)Ctt>Att	p.L582I	ZNF808_uc002pzq.2_Non-coding_Transcript|ZNF808_uc010epr.2_5'Flank	NM_001039886	NP_001034975	Q8N4W9	ZN808_HUMAN	Homo sapiens zinc finger protein 808 (ZNF808), mRNA.	582					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		ACAATCACATCTTTCACGTCA	0.383000														71			35		1.45844e-13	1.81628e-13	1	1	0
PPAP2A	8611	broad.mit.edu	37	5	54763910	54763910	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:54763910T>G	uc003jpz.3	-	2	697	c.281A>C	c.(280-282)aAc>aCc	p.N94T	PPAP2A_uc003jqa.3_Missense_Mutation_p.N93T|PPAP2A_uc003jqb.3_Non-coding_Transcript	NM_176895	NP_795714	O14494	LPP1_HUMAN	Homo sapiens phosphatidic acid phosphatase type 2A (PPAP2A), transcript variant 2, mRNA.	93					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|androgen receptor signaling pathway|germ cell migration|negative regulation of cell proliferation|phospholipid dephosphorylation|regulation of lipid metabolic process|sphingolipid metabolic process	integral to plasma membrane|membrane fraction	phosphatidate phosphatase activity|sphingosine-1-phosphate phosphatase activity			breast(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	9		Lung NSC(810;4.08e-05)|Prostate(74;0.0181)|Breast(144;0.0544)				GGCTATGTAGTTATTCCTGAT	0.368000														76			8		0	0	1	0	0
CASKIN1	57524	broad.mit.edu	37	16	2229990	2229990	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:2229990G>A	uc010bsg.1	-	17	3411	c.3379C>T	c.(3379-3381)Cgc>Tgc	p.R1127C		NM_020764	NP_065815	Q8WXD9	CSKI1_HUMAN	Homo sapiens CASK interacting protein 1 (CASKIN1), mRNA.	1127	Pro-rich.				signal transduction	cytoplasm				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						GCCCGGATGCGCCTCTTGAGT	0.682000														8			3		0	0	1	0	0
WBSCR17	64409	broad.mit.edu	37	7	70885988	70885988	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:70885988C>T	uc003tvy.3	+	4	859	c.859C>T	c.(859-861)Cgg>Tgg	p.R287W	WBSCR17_uc003tvz.3_5'UTR	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	Homo sapiens Williams-Beuren syndrome chromosome region 17 (WBSCR17), mRNA.	287						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.R287Q(2)		NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				TGAGGTGCAGCGGTACGAGAA	0.577000														192			10		0	0	1	0	0
GDPD2	54857	broad.mit.edu	37	X	69646847	69646847	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:69646847C>T	uc011mpk.2	+	7	1049	c.688C>T	c.(688-690)Cga>Tga	p.R230*	GDPD2_uc010nkx.2_Nonsense_Mutation_p.R230*|GDPD2_uc010nky.2_Nonsense_Mutation_p.R16*|GDPD2_uc004dyh.3_Nonsense_Mutation_p.R230*|GDPD2_uc011mpl.2_Nonsense_Mutation_p.R151*|GDPD2_uc011mpm.2_Nonsense_Mutation_p.R151*	NM_001171192	NP_001164663	Q9HCC8	GDPD2_HUMAN	Homo sapiens glycerophosphodiester phosphodiesterase domain containing 2 (GDPD2), transcript variant 1, mRNA.	230	GDPD.				glycerol metabolic process|lipid metabolic process	cytoplasm|cytoskeleton|integral to membrane|plasma membrane	glycerophosphodiester phosphodiesterase activity|glycerophosphoinositol inositolphosphodiesterase activity|metal ion binding	p.R230Q(1)		NS(1)|breast(1)|cervix(1)|endometrium(6)|large_intestine(8)|lung(3)|ovary(2)	22	Renal(35;0.156)					GGTGGGACACCGAGGGGCCCC	0.612000														23			18		0	0	1	0	0
ATP7B	540	broad.mit.edu	37	13	52544631	52544631	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:52544631C>T	uc001vfw.2	-	2	1697	c.1540G>A	c.(1540-1542)Gct>Act	p.A514T	ATP7B_uc001vfy.2_Missense_Mutation_p.A403T|ATP7B_uc010adv.2_Intron|ATP7B_uc001vfx.2_Missense_Mutation_p.A514T|ATP7B_uc010tgt.1_Missense_Mutation_p.A514T|ATP7B_uc010tgu.1_Missense_Mutation_p.A514T|ATP7B_uc010tgv.1_Missense_Mutation_p.A514T|ATP7B_uc010tgw.1_Missense_Mutation_p.A482T	NM_000053	NP_000044	P35670	ATP7B_HUMAN	Homo sapiens ATPase, Cu++ transporting, beta polypeptide (ATP7B), transcript variant 1, mRNA.	514	HMA 5.				ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		CTCTTACCAGCTTCTTTCTGC	0.463000									Wilson disease					116			11		0	0	1	0	0
PPP1R7	5510	broad.mit.edu	37	2	242097264	242097264	+	Missense_Mutation	SNP	A	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:242097264A>T	uc002wat.1	+	2	233	c.224A>T	c.(223-225)gAc>gTc	p.D75V	PPP1R7_uc010fzm.1_Missense_Mutation_p.D59V|PPP1R7_uc002was.3_Missense_Mutation_p.D75V|PPP1R7_uc002wau.1_Missense_Mutation_p.D32V	NM_002712	NP_002703	Q15435	PP1R7_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 7 (PPP1R7), mRNA.	75						cytoplasm|nucleus	protein binding|protein phosphatase type 1 regulator activity	p.L74V(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)	23		all_cancers(19;6.1e-33)|all_epithelial(40;1.07e-13)|Breast(86;0.000141)|Renal(207;0.00528)|all_lung(227;0.0446)|Ovarian(221;0.104)|Lung NSC(271;0.115)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.92e-32)|all cancers(36;5.35e-29)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-14)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.24e-08)|BRCA - Breast invasive adenocarcinoma(100;3.56e-06)|Lung(119;0.000588)|LUSC - Lung squamous cell carcinoma(224;0.0048)|Colorectal(34;0.0137)|COAD - Colon adenocarcinoma(134;0.096)		ATCAACCTGGACAGAGATGCA	0.473000														13			9		0	0	1	0	0
TRMT11	60487	broad.mit.edu	37	6	126342392	126342392	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:126342392G>A	uc003qam.3	+	11	1347	c.1226G>A	c.(1225-1227)cGc>cAc	p.R409H	TRMT11_uc003qan.3_Non-coding_Transcript|TRMT11_uc010kev.3_Missense_Mutation_p.R409H	NM_001031712	NP_001026882	Q7Z4G4	TRM11_HUMAN	Homo sapiens tRNA methyltransferase 11 homolog (S. cerevisiae) (TRMT11), mRNA.	409					tRNA processing		methyltransferase activity|nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				GBM - Glioblastoma multiforme(226;0.0356)		ACATCAAGGCGCTTGATCACA	0.398000														39			21		0	0	1	0	0
LAS1L	81887	broad.mit.edu	37	X	64743531	64743531	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:64743531G>T	uc004dwa.2	-	10	1448	c.1357C>A	c.(1357-1359)Ctg>Atg	p.L453M	LAS1L_uc004dwc.2_Missense_Mutation_p.L436M|LAS1L_uc004dwd.2_Missense_Mutation_p.L394M	NM_031206	NP_112483	Q9Y4W2	LAS1L_HUMAN	Homo sapiens LAS1-like (S. cerevisiae) (LAS1L), transcript variant 1, mRNA.	453						MLL1 complex|nucleolus	protein binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	33						CAGTTGAACAGCCTCCAGCCC	0.592000														9			7		8.12818e-05	8.84769e-05	1	1	0
RMND5B	64777	broad.mit.edu	37	5	177571012	177571012	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:177571012G>A	uc011dgf.2	+	3	732	c.720G>A	c.(718-720)ctG>ctA	p.L240L	RMND5B_uc003mim.3_Silent_p.L199L|RMND5B_uc003min.3_Silent_p.L199L|RMND5B_uc003mio.3_Silent_p.L186L|RMND5B_uc003miq.3_Silent_p.L139L	NM_022762	NP_073599	Q96G75	RMD5B_HUMAN	Homo sapiens required for meiotic nuclear division 5 homolog B (S. cerevisiae) (RMND5B), mRNA.	199										endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	17	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGCACCGACTGCACTTCATCC	0.632000														67			7		0	0	1	0	0
ACAD9	28976	broad.mit.edu	37	3	128627876	128627876	+	Silent	SNP	C	T	T	rs143991763		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:128627876C>T	uc003ela.4	+	13	1621	c.1419C>T	c.(1417-1419)gaC>gaT	p.D473D	ACAD9_uc010hsw.1_3'UTR|ACAD9_uc011bks.2_Silent_p.D350D|ACAD9_uc003elb.3_Silent_p.D350D|ACAD9_uc003ele.3_Silent_p.D125D	NM_014049	NP_054768	Q9H845	ACAD9_HUMAN	Homo sapiens acyl-CoA dehydrogenase family, member 9 (ACAD9), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	473						mitochondrion	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	30						GGCTTCGGGACTCCCTGGGCC	0.587000														19			12		0	0	1	0	0
ERGIC3	51614	broad.mit.edu	37	20	34143831	34143831	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:34143831C>A	uc002xcs.3	+	9	829	c.760C>A	c.(760-762)Ctg>Atg	p.L254M	ERGIC3_uc010zvg.2_Missense_Mutation_p.L249M|ERGIC3_uc002xct.3_Missense_Mutation_p.L249M	NM_198398	NP_938408	Q9Y282	ERGI3_HUMAN	Homo sapiens ERGIC and golgi 3 (ERGIC3), transcript variant 1, mRNA.	249					vesicle-mediated transport	ER-Golgi intermediate compartment membrane|Golgi apparatus|endoplasmic reticulum membrane|integral to membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)	16	Lung NSC(9;0.00489)|all_lung(11;0.00729)		BRCA - Breast invasive adenocarcinoma(18;0.0127)			CATCCAGCACCTGTCATTTGG	0.572000														137			18		2.94398e-08	3.4452e-08	1	1	0
FBN3	84467	broad.mit.edu	37	19	8151120	8151120	+	Nonsense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:8151120C>A	uc002mjf.3	-	53	6861	c.6844G>T	c.(6844-6846)Gga>Tga	p.G2282*	FBN3_uc002mje.3_Nonsense_Mutation_p.G121*	NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	2282	EGF-like 37; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GGCTGGAATCCCTCATCACAG	0.612000														45			28		4.4194e-11	5.38326e-11	1	1	0
MAP2	4133	broad.mit.edu	37	2	210559779	210559779	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:210559779C>T	uc002vde.1	+	6	3133	c.2885C>T	c.(2884-2886)aCt>aTt	p.T962I	MAP2_uc002vdc.1_Missense_Mutation_p.T962I|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Missense_Mutation_p.T958I	NM_002374	NP_002365	P11137	MAP2_HUMAN	Homo sapiens microtubule-associated protein 2 (MAP2), transcript variant 1, mRNA.	962					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	AGGTTGGATACTGTACTAGAA	0.403000														52			28		0	0	1	0	0
AIRE	326	broad.mit.edu	37	21	45713694	45713694	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:45713694G>A	uc002zei.2	+	10	1428	c.1301G>A	c.(1300-1302)tGc>tAc	p.C434Y	AIRE_uc010gpq.2_Non-coding_Transcript|AIRE_uc002zej.2_Missense_Mutation_p.C237Y|AIRE_uc010gpr.2_Missense_Mutation_p.C237Y	NM_000383	NP_000374	O43918	AIRE_HUMAN	Homo sapiens autoimmune regulator (AIRE), transcript variant AIRE-1, mRNA.	434					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|histone binding|transcription regulatory region DNA binding|translation regulator activity|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(1)	14				Colorectal(79;0.0806)		GGTGCGCGTTGCGGGGTGTGC	0.706000									Autoimmune PolyEndocrinopathy Candidiasis Ectodermal Dystrophy					25			13		0	0	1	0	0
INO80C	125476	broad.mit.edu	37	18	33060526	33060526	+	Splice_Site	SNP	C	T	T	rs150273392	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:33060526C>T	uc010dmt.3	-	4	382	c.265_splice	c.e4-1	p.G89_splice	INO80C_uc002kyw.1_Splice_Site_p.G53_splice|INO80C_uc002kyx.4_Splice_Site|INO80C_uc002kyy.4_Splice_Site_p.G53_splice	NM_001098817	NP_001092287	Q6PI98	IN80C_HUMAN	Homo sapiens INO80 complex subunit C (INO80C), transcript variant 1, mRNA.	53					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex|MLL1 complex				central_nervous_system(1)|endometrium(1)|lung(3)|prostate(2)|skin(1)	8						CATGCTGATACCCTTAAAACA	0.448000														45			27		0	0	1	0	0
TCHH	7062	broad.mit.edu	37	1	152082671	152082671	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:152082671G>A	uc009wne.1	-	2	3294	c.3022C>T	c.(3022-3024)Cgg>Tgg	p.R1008W	TCHH_uc001ezp.2_Missense_Mutation_p.R1008W	NM_007113	NP_009044	Q07283	TRHY_HUMAN	Homo sapiens trichohyalin (TCHH), mRNA.	1008	10 X 30 AA tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ctcttctcccgttcctctctc	0.577000														58			38		0	0	1	0	0
MFGE8	4240	broad.mit.edu	37	15	89442660	89442660	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:89442660C>T	uc002bng.4	-	7	1243	c.1130G>A	c.(1129-1131)cGc>cAc	p.R377H	MFGE8_uc002bnf.4_Missense_Mutation_p.R265H|MFGE8_uc002bnh.4_Missense_Mutation_p.R325H|MFGE8_uc010bnn.3_Missense_Mutation_p.R369H|MFGE8_uc010upq.2_Missense_Mutation_p.R333H	NM_005928	NP_005919	Q08431	MFGM_HUMAN	Homo sapiens milk fat globule-EGF factor 8 protein (MFGE8), transcript variant 1, mRNA.	377	F5/8 type C 2.				angiogenesis|cell adhesion|interspecies interaction between organisms|single fertilization					breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	22	Lung NSC(78;0.0392)|all_lung(78;0.077)					CAGGGCGATGCGGTTGTGCCA	0.622000														59			37		0	0	1	0	0
CACNA1H	8912	broad.mit.edu	37	16	1260937	1260937	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:1260937G>A	uc002cks.3	+	20	4437	c.4189G>A	c.(4189-4191)Gtg>Atg	p.V1397M	CACNA1H_uc002ckt.3_Missense_Mutation_p.V1397M|CACNA1H_uc002cku.3_Missense_Mutation_p.V103M|CACNA1H_uc010brj.3_Missense_Mutation_p.V103M|CACNA1H_uc002ckv.3_Missense_Mutation_p.V103M	NM_021098	NP_066921	O95180	CAC1H_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1H subunit (CACNA1H), transcript variant 1, mRNA.	1397					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	p.R1396H(1)		breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	TGTTCTGCGCGTGCTGCGTCT	0.682000														58			50		0	0	1	0	0
CTNND1	1500	broad.mit.edu	37	11	57577605	57577605	+	Silent	SNP	A	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:57577605A>T	uc001nmc.4	+	15	3031	c.2460A>T	c.(2458-2460)cgA>cgT	p.R820R	CTNND1_uc001nlf.2_Silent_p.R820R|CTNND1_uc021qjk.1_Silent_p.R814R|CTNND1_uc001nlh.1_Silent_p.R820R|CTNND1_uc001nlj.4_Silent_p.R760R|CTNND1_uc001nlq.4_Silent_p.R719R|CTNND1_uc001nlr.4_Silent_p.R760R|CTNND1_uc001nln.4_Silent_p.R814R|CTNND1_uc001nli.4_Silent_p.R814R|CTNND1_uc001nlo.4_Silent_p.R713R|CTNND1_uc001nlp.4_Silent_p.R760R|CTNND1_uc001nlu.4_Silent_p.R713R|CTNND1_uc001nlt.4_Silent_p.R713R|CTNND1_uc001nlv.4_Silent_p.R713R|CTNND1_uc001nls.4_Silent_p.R713R|CTNND1_uc001nlw.4_Silent_p.R713R|CTNND1_uc001nmf.4_Silent_p.R820R|CTNND1_uc001nlx.4_Silent_p.R497R|CTNND1_uc001nlz.4_Silent_p.R497R|CTNND1_uc009ymn.3_Silent_p.R491R|CTNND1_uc001nly.4_Silent_p.R491R|CTNND1_uc001nmb.4_Silent_p.R491R|CTNND1_uc001nma.4_Silent_p.R491R|CTNND1_uc001nmd.4_Silent_p.R766R|CTNND1_uc001nlk.4_Silent_p.R766R|CTNND1_uc001nme.4_Silent_p.R814R|CTNND1_uc001nll.4_Silent_p.R760R|CTNND1_uc001nlm.4_Silent_p.R814R|CTNND1_uc001nmi.4_Silent_p.R719R|CTNND1_uc001nmg.4_Silent_p.R760R|CTNND1_uc001nmh.4_Silent_p.R814R	NM_001085458	NP_001078932	O60716	CTND1_HUMAN	Homo sapiens catenin (cadherin-associated protein), delta 1 (CTNND1), transcript variant 1, mRNA.	820					Wnt receptor signaling pathway|adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|midbody|nucleus	cadherin binding|protein binding|receptor binding			breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				AAGAAGTTCGAGCAGCAGCAC	0.398000														36			9		0	0	1	0	0
OR4D10	390197	broad.mit.edu	37	11	59245181	59245181	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:59245181C>A	uc001nnz.1	+	0	279	c.279C>A	c.(277-279)tcC>tcA	p.S93S		NM_001004705	NP_001004705	Q8NGI6	OR4DA_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 10 (OR4D10), mRNA.	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						AGACCATCTCCTTCAATCATT	0.423000														82			44		2.13384e-23	2.7809e-23	1	1	0
DNAJC3	5611	broad.mit.edu	37	13	96377474	96377474	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:96377474C>T	uc001vmq.3	+	3	478	c.361C>T	c.(361-363)Ctt>Ttt	p.L121F	DNAJC3_uc001vmp.3_Missense_Mutation_p.L121F	NM_006260	NP_006251	Q13217	DNJC3_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 3 (DNAJC3), mRNA.	121					protein folding|response to unfolded protein|response to virus		heat shock protein binding|protein kinase inhibitor activity|unfolded protein binding			NS(1)|breast(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.126)			ACAAGGAAAACTTGATGAAGC	0.299000														53			4		0	0	1	0	0
FAT2	2196	broad.mit.edu	37	5	150911154	150911154	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:150911154G>A	uc003lue.4	-	12	9818	c.9805C>T	c.(9805-9807)Cgc>Tgc	p.R3269C	FAT2_uc003lud.4_5'UTR	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	3269	Cadherin 29.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCACCTGTGCGAGCATCCAGG	0.652000														12			8		0	0	1	0	0
DIAPH1	1729	broad.mit.edu	37	5	140957091	140957091	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140957091G>T	uc003llb.4	-	11	1372	c.1231C>A	c.(1231-1233)Ctt>Att	p.L411I	DIAPH1_uc003llc.4_Missense_Mutation_p.L402I|DIAPH1_uc021yep.1_Missense_Mutation_p.L411I|DIAPH1_uc021yeq.1_Missense_Mutation_p.L402I	NM_005219	NP_005210	O60610	DIAP1_HUMAN	Homo sapiens diaphanous homolog 1 (Drosophila) (DIAPH1), transcript variant 1, mRNA.	411	GBD/FH3.				regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	Rho GTPase binding|actin binding|receptor binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGATGGAAAGGAAGTGTGGC	0.418000														71			41		9.73076e-26	1.27472e-25	1	1	0
SHROOM1	134549	broad.mit.edu	37	5	132159124	132159124	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:132159124G>A	uc003kxx.3	-	8	2849	c.2044C>T	c.(2044-2046)Cgc>Tgc	p.R682C	SHROOM1_uc003kxy.2_Missense_Mutation_p.R682C	NM_001172700	NP_001166171	Q2M3G4	SHRM1_HUMAN	Homo sapiens shroom family member 1 (SHROOM1), transcript variant 1, mRNA.	682	ASD2.				actin filament bundle assembly|cell morphogenesis	cytoplasm|microtubule	actin filament binding			endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GCCGCTTGGCGCCTGGCCCAC	0.677000														6			15		0	0	1	0	0
KCNB1	3745	broad.mit.edu	37	20	47990834	47990834	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:47990834C>A	uc002xur.1	-	1	1429	c.1263G>T	c.(1261-1263)aaG>aaT	p.K421N	KCNB1_uc002xus.1_Missense_Mutation_p.K421N	NM_004975	NP_004966	Q14721	KCNB1_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 1 (KCNB1), mRNA.	421					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TCTTCTGCTCCTTATAGAACT	0.493000														83			8		5.18039e-06	5.80246e-06	1	1	0
MPEG1	219972	broad.mit.edu	37	11	58979412	58979412	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:58979412C>T	uc001nnu.4	-	0	1083	c.927G>A	c.(925-927)ccG>ccA	p.P309P		NM_001039396	NP_001034485	Q2M385	MPEG1_HUMAN	Homo sapiens macrophage expressed 1 (MPEG1), mRNA.	309	MACPF.					integral to membrane				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				AGAAATGCAGCGGCAGGCCAG	0.557000														20			9		0	0	1	0	0
LYSMD1	388695	broad.mit.edu	37	1	151134363	151134363	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:151134363G>A	uc001ewy.3	-	1	1030	c.394C>T	c.(394-396)Cgt>Tgt	p.R132C	SCNM1_uc021oyk.1_Intron|LYSMD1_uc010pcr.2_Missense_Mutation_p.R84C	NM_212551	NP_997716	Q96S90	LYSM1_HUMAN	Homo sapiens LysM, putative peptidoglycan-binding, domain containing 1 (LYSMD1), transcript variant 1, mRNA.	132					cell wall macromolecule catabolic process					endometrium(2)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CCATTGGCACGTCCTGCTCCT	0.502000														49			48		0	0	1	0	0
HKR1	284459	broad.mit.edu	37	19	37853998	37853998	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:37853998C>T	uc002ogb.3	+	5	1570	c.1301C>T	c.(1300-1302)aCa>aTa	p.T434I	HKR1_uc002ofx.3_Missense_Mutation_p.T150I|HKR1_uc002ofy.3_Missense_Mutation_p.T150I|HKR1_uc002oga.3_Missense_Mutation_p.T416I|HKR1_uc010xto.2_Missense_Mutation_p.T416I|HKR1_uc002ogc.3_Missense_Mutation_p.T415I|HKR1_uc010xtp.2_Missense_Mutation_p.T373I|HKR1_uc002ogd.3_Missense_Mutation_p.T373I	NM_181786	NP_861451	P10072	HKR1_HUMAN	Homo sapiens HKR1, GLI-Kruppel zinc finger family member (HKR1), mRNA.	434					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CACTTAAGGACACACACAGGA	0.473000														19			15		0	0	1	0	0
CRLF2	64109	broad.mit.edu	37	X	1314993	1314993	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:1314993G>A	uc004cpk.2	-	5	670	c.668C>T	c.(667-669)aCg>aTg	p.T223M	CRLF2_uc022brt.1_Missense_Mutation_p.T223M|CRLF2_uc004cpl.2_Missense_Mutation_p.T111M|CRLF2_uc022brs.1_Missense_Mutation_p.T223M	NM_022148	NP_071431	Q9HC73	CRLF2_HUMAN	Homo sapiens cytokine receptor-like factor 2 (CRLF2), transcript variant 1, mRNA.	223						extracellular region|integral to membrane|plasma membrane	receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|lung(9)	20		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				TTTGGGAGGCGTTGGTGTCTC	0.448000			"""Mis, T"""	"""P2RY8, IGH@"""	"""B-ALL, Downs associated ALL"""									21			15		0	0	1	0	0
DCAF12L1	139170	broad.mit.edu	37	X	125685778	125685778	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:125685778C>T	uc022cds.1	-	0	814	c.814G>A	c.(814-816)Ggc>Agc	p.G272S	DCAF12L1_uc004eul.3_Missense_Mutation_p.G272S	NM_178470	NP_848565	Q5VU92	DC121_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 12-like 1 (DCAF12L1), mRNA.	272										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						TGGTTCTTGCCGCCGCAGGCC	0.637000														31			19		0	0	1	0	0
ABCC11	85320	broad.mit.edu	37	16	48218469	48218469	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:48218469G>A	uc002eff.1	-	21	3490	c.3140C>T	c.(3139-3141)gCa>gTa	p.A1047V	ABCC11_uc002efg.1_Missense_Mutation_p.A1047V|ABCC11_uc002efh.1_Missense_Mutation_p.A1047V|ABCC11_uc010cbg.1_Non-coding_Transcript	NM_033151	NP_149163	Q96J66	ABCCB_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 11 (ABCC11), transcript variant 2, mRNA.	1047	ABC transmembrane type-1 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				CAGCCTCAATGCCATCCATCG	0.483000														89			6		0	0	1	0	0
TRPM1	4308	broad.mit.edu	37	15	31362287	31362287	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:31362287C>A	uc021sia.1	-	2	591	c.277G>T	c.(277-279)Gat>Tat	p.D93Y	TRPM1_uc010azy.3_5'Flank|TRPM1_uc001zfl.3_5'Flank|TRPM1_uc021shz.1_Missense_Mutation_p.D76Y|TRPM1_uc001zfm.3_Missense_Mutation_p.D54Y|TRPM1_uc001zfn.4_Missense_Mutation_p.D54Y|TRPM1_uc010ubn.1_Non-coding_Transcript	NM_001252020	NP_001238949	Q7Z4N2	TRPM1_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 1 (TRPM1), transcript variant 1, mRNA.	54					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		CCATAGGAATCTGTTGGGTAG	0.483000														457			71		2.23399e-28	2.93995e-28	1	1	0
C1QB	713	broad.mit.edu	37	1	22986052	22986052	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:22986052C>T	uc001bgd.3	+	1	235	c.103C>T	c.(103-105)Cca>Tca	p.P35S		NM_000491	NP_000482	P02746	C1QB_HUMAN	Homo sapiens complement component 1, q subcomponent, B chain (C1QB), mRNA.	35					complement activation, classical pathway|innate immune response	collagen|complement component C1 complex				breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CACCGGGCCCCCAGCCATCCC	0.602000														30			5		0	0	1	0	0
PRKCE	5581	broad.mit.edu	37	2	46386777	46386777	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:46386777C>T	uc002rut.3	+	13	2150	c.1953C>T	c.(1951-1953)ggC>ggT	p.G651G		NM_005400	NP_005391	Q02156	KPCE_HUMAN	Homo sapiens protein kinase C, epsilon (PRKCE), mRNA.	651	Protein kinase.				activation of phospholipase C activity|induction of apoptosis|intracellular signal transduction|nerve growth factor receptor signaling pathway|platelet activation	cytosol|endoplasmic reticulum|plasma membrane	ATP binding|enzyme activator activity|metal ion binding|signal transducer activity		MBOAT2/PRKCE(2)	breast(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(13)|ovary(3)|upper_aerodigestive_tract(2)	34		all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209)	LUSC - Lung squamous cell carcinoma(58;0.171)			AGCGCCTGGGCTGTGTGGCAT	0.547000														64			27		0	0	1	0	0
DYNC2H1	79659	broad.mit.edu	37	11	103055642	103055642	+	Missense_Mutation	SNP	A	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:103055642A>T	uc001phn.1	+	40	6639	c.6495A>T	c.(6493-6495)gaA>gaT	p.E2165D	DYNC2H1_uc009yxe.1_Intron|DYNC2H1_uc001pho.2_Missense_Mutation_p.E2165D	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	Homo sapiens dynein, cytoplasmic 2, heavy chain 1 (DYNC2H1), transcript variant 2, mRNA.	2165					Golgi organization|cell projection organization|microtubule-based movement|multicellular organismal development	Golgi apparatus|cilium axoneme|dynein complex|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		ATGTGGTAGAAACAAGTTTGG	0.373000														86			7		0	0	1	0	0
TMC6	11322	broad.mit.edu	37	17	76117674	76117674	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:76117674G>A	uc002juj.1	-	9	1472	c.1346C>T	c.(1345-1347)gCc>gTc	p.A449V	TMC6_uc002jui.1_Missense_Mutation_p.A88V|TMC6_uc010dhf.1_Missense_Mutation_p.A282V|TMC6_uc002juk.2_Missense_Mutation_p.A449V|TMC6_uc010dhg.1_Intron|TMC6_uc002jul.1_Missense_Mutation_p.A449V|TMC6_uc002jum.4_Missense_Mutation_p.A240V|TMC6_uc002jun.4_Missense_Mutation_p.A449V|TMC6_uc002juo.2_Missense_Mutation_p.A222V	NM_007267	NP_009198	Q7Z403	TMC6_HUMAN	Homo sapiens transmembrane channel-like 6 (TMC6), transcript variant 2, mRNA.	449						endoplasmic reticulum membrane|integral to membrane				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	14			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			GACGGCCACGGCGCAGCCCAG	0.697000														11			10		0	0	1	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113519733	113519733	+	Nonsense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:113519733C>A	uc010ljy.1	-	3	1445	c.1414G>T	c.(1414-1416)Gga>Tga	p.G472*		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA.	472					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TTAGCTCCTCCTTCATGTTTT	0.398000														65			23		1.10513e-12	1.3661e-12	1	1	0
BIRC7	79444	broad.mit.edu	37	20	61870847	61870847	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:61870847G>A	uc002yej.3	+	5	960	c.787G>A	c.(787-789)Gtc>Atc	p.V263I	BIRC7_uc010gkc.1_3'UTR|BIRC7_uc002yei.3_Missense_Mutation_p.V245I	NM_139317	NP_647478	Q96CA5	BIRC7_HUMAN	Homo sapiens baculoviral IAP repeat containing 7 (BIRC7), transcript variant 1, mRNA.	263					DNA fragmentation involved in apoptotic nuclear change|activation of JUN kinase activity|anti-apoptosis	cytoplasm|nucleus	enzyme binding|zinc ion binding			endometrium(1)|kidney(1)|lung(9)|ovary(1)	12	all_cancers(38;2.72e-09)					CGTGTCCATCGTCTTTGTGCC	0.697000														32			15		0	0	1	0	0
PELP1	27043	broad.mit.edu	37	17	4579733	4579733	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:4579733C>T	uc002fyi.4	-	6	998	c.772G>A	c.(772-774)Gag>Aag	p.E258K	PELP1_uc010vsf.2_Missense_Mutation_p.E111K	NM_014389	NP_055204	Q8IZL8	PELP1_HUMAN	Homo sapiens proline, glutamate and leucine rich protein 1 (PELP1), mRNA.	258					transcription, DNA-dependent	MLL1 complex|cytoplasm	protein binding			breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	15						TCCCAGCTCTCGGTGTGCTTC	0.607000														43			30		0	0	1	0	0
C2orf54	79919	broad.mit.edu	37	2	241835229	241835229	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:241835229G>T	uc002wae.4	-	0	345	c.186C>A	c.(184-186)tcC>tcA	p.S62S		NM_001085437	NP_001078906	Q08AI8	CB054_HUMAN	Homo sapiens chromosome 2 open reading frame 54 (C2orf54), transcript variant 1, mRNA.	62										haematopoietic_and_lymphoid_tissue(1)|lung(4)|prostate(1)	6		all_epithelial(40;3.99e-16)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)		CCAGGCCACGGGAGTAGTCCA	0.662000														24			12		3.07112e-06	3.45634e-06	1	1	0
OR13C9	286362	broad.mit.edu	37	9	107380071	107380071	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:107380071T>G	uc011lvr.2	-	0	415	c.415A>C	c.(415-417)Aat>Cat	p.N139H		NM_001001956	NP_001001956	Q8NGT0	O13C9_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 9 (OR13C9), mRNA.	139					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(6)|lung(9)|prostate(1)|skin(4)	22						ACATAGGCATTCTTGCTCATG	0.488000														49			37		0	0	1	0	0
RPGRIP1	57096	broad.mit.edu	37	14	21790062	21790062	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:21790062A>G	uc001wag.3	+	12	1661	c.1661A>G	c.(1660-1662)cAc>cGc	p.H554R	RPGRIP1_uc001wah.3_Missense_Mutation_p.H196R|RPGRIP1_uc001wai.3_Missense_Mutation_p.H196R|RPGRIP1_uc001waj.1_Missense_Mutation_p.H30R|RPGRIP1_uc001wak.3_Missense_Mutation_p.H29R|RPGRIP1_uc010aim.3_5'UTR|RPGRIP1_uc001wal.3_5'UTR|RPGRIP1_uc001wam.3_5'Flank	NM_020366	NP_065099	Q96KN7	RPGR1_HUMAN	Homo sapiens retinitis pigmentosa GTPase regulator interacting protein 1 (RPGRIP1), mRNA.	554				HK -> SQR (in Ref. 1; AAG10246).	response to stimulus|visual perception	cilium				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		AATAGAGATCACAAAGAAAAG	0.398000														20			4		0	0	1	0	0
MPPED1	758	broad.mit.edu	37	22	43821091	43821091	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:43821091G>A	uc011apz.2	+	1	540	c.199G>A	c.(199-201)Gcc>Acc	p.A67T	MPPED1_uc011apv.2_Missense_Mutation_p.A34T|MPPED1_uc011apw.2_Intron|MPPED1_uc011apx.2_Intron|MPPED1_uc011apy.2_Missense_Mutation_p.A34T	NM_001044370	NP_001037835	O15442	MPPD1_HUMAN	Homo sapiens metallophosphoesterase domain containing 1 (MPPED1), mRNA.	34							hydrolase activity			endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|skin(1)	13		all_neural(38;0.0244)|Ovarian(80;0.0694)				CCACGTGATGGCCGCTCGGCG	0.662000														12			10		0	0	1	0	0
GRK5	2869	broad.mit.edu	37	10	121214568	121214568	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:121214568G>A	uc001led.3	+	15	1995	c.1762G>A	c.(1762-1764)Gga>Aga	p.G588R	GRK5_uc009xzh.3_Missense_Mutation_p.G453R	NM_005308	NP_005299	P34947	GRK5_HUMAN	Homo sapiens G protein-coupled receptor kinase 5 (GRK5), mRNA.	588					G-protein signaling, coupled to cAMP nucleotide second messenger|regulation of G-protein coupled receptor protein signaling pathway|tachykinin receptor signaling pathway	cytoplasm|plasma membrane|soluble fraction	ATP binding|G-protein coupled receptor kinase activity|phospholipid binding|protein kinase C binding|signal transducer activity			endometrium(2)|large_intestine(5)|lung(15)|skin(3)|stomach(1)|urinary_tract(1)	27		Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249)		all cancers(201;0.0227)		GAACTCCACCGGAAGCAGCTA	0.547000														34			16		0	0	1	0	0
PRODH	5625	broad.mit.edu	37	22	18918708	18918708	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:18918708G>A	uc002zok.4	-	2	481	c.277C>T	c.(277-279)Ctg>Ttg	p.L93L	PRODH_uc002zoj.4_Intron|PRODH_uc002zol.4_5'UTR	NM_016335	NP_057419	O43272	PROD_HUMAN	Homo sapiens proline dehydrogenase (oxidase) 1 (PRODH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	93					glutamate biosynthetic process|induction of apoptosis by oxidative stress|proline catabolic process	mitochondrial inner membrane|mitochondrial matrix	proline dehydrogenase activity			breast(1)|endometrium(3)|lung(4)|upper_aerodigestive_tract(1)	9					L-Proline(DB00172)	GAAACATACAGCAGCTGAAAG	0.547000														13			12		0	0	1	0	0
INTS1	26173	broad.mit.edu	37	7	1518100	1518100	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:1518100C>T	uc003skn.2	-	32	4633	c.4532G>A	c.(4531-4533)cGt>cAt	p.R1511H		NM_001080453	NP_001073922	Q8N201	INT1_HUMAN	Homo sapiens integrator complex subunit 1 (INTS1), mRNA.	1511					snRNA processing	integral to membrane|integrator complex|nuclear membrane				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		CAGGTCCTGACGGAAGGCCAG	0.677000														12			26		0	0	1	0	0
TMEM163	81615	broad.mit.edu	37	2	135215669	135215669	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:135215669G>A	uc002ttx.3	-	6	809	c.743C>T	c.(742-744)gCg>gTg	p.A248V	TMEM163_uc002tty.3_Non-coding_Transcript	NM_030923	NP_112185	Q8TC26	TM163_HUMAN	Homo sapiens transmembrane protein 163 (TMEM163), mRNA.	248						integral to membrane		p.S247S(1)		endometrium(1)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(221;0.154)		GTACCAGACCGCCGAGTCATG	0.542000														49			35		0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38905958	38905958	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:38905958G>A	uc021yzh.1	+	77	11881	c.11772G>A	c.(11770-11772)acG>acA	p.T3924T	DNAH8_uc003ooe.2_Silent_p.T3707T|DNAH8_uc003oog.1_Silent_p.T156T|LOC100131047_uc003oof.2_Intron	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TGTATCAGACGTCATTGGCCC	0.502000														53			36		0	0	1	0	0
C1orf150	148823	broad.mit.edu	37	1	247737603	247737603	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:247737603A>G	uc001idf.3	+	4	474	c.327A>G	c.(325-327)gaA>gaG	p.E109E	C1orf150_uc009xgw.3_Non-coding_Transcript|C1orf150_uc001ida.4_Non-coding_Transcript|C1orf150_uc001idb.4_Non-coding_Transcript|C1orf150_uc009xgx.3_Non-coding_Transcript	NM_145278	NP_660321	Q5JQS6	CA150_HUMAN	Homo sapiens chromosome 1 open reading frame 150 (C1orf150), mRNA.	109										breast(1)|large_intestine(2)|lung(10)|skin(2)	15	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0241)			CAGAGACAGAATATGCCCTTC	0.443000														79			7		0	0	1	0	0
SWT1	54823	broad.mit.edu	37	1	185153476	185153476	+	Splice_Site	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:185153476G>A	uc001grg.4	+	8	1354	c.1240_splice	c.e8+1	p.G414_splice	SWT1_uc001grh.4_Splice_Site_p.G414_splice	NM_001105518	NP_060143	Q5T5J6	SWT1_HUMAN	Homo sapiens SWT1 RNA endoribonuclease homolog (S. cerevisiae) (SWT1), transcript variant 2, mRNA.	414	PINc.									breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1)	41						AGAAGTACCAGGTATTTACAG	0.284000														21			20		0	0	1	0	0
ELFN2	114794	broad.mit.edu	37	22	37770817	37770817	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:37770817C>T	uc003asq.4	-	2	1544	c.758G>A	c.(757-759)cGg>cAg	p.R253Q	ELFN2_uc021wph.1_Missense_Mutation_p.R253Q	NM_052906	NP_443138	Q5R3F8	LRFN6_HUMAN	Homo sapiens extracellular leucine-rich repeat and fibronectin type III domain containing 2 (ELFN2), mRNA.	253						cell surface|integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					GCTCACGGGCCGGGCGGGCAG	0.687000														20			16		0	0	1	0	0
TDRD7	23424	broad.mit.edu	37	9	100222971	100222971	+	Missense_Mutation	SNP	C	A	A	rs17852595		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:100222971C>A	uc004axj.3	+	6	1592	c.1367C>A	c.(1366-1368)cCt>cAt	p.P456H	TDRD7_uc011lux.2_Missense_Mutation_p.P382H	NM_014290	NP_055105	Q8NHU6	TDRD7_HUMAN	Homo sapiens tudor domain containing 7 (TDRD7), mRNA.	456			P -> L (in dbSNP:rs17852595).		lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis	chromatoid body	mRNA binding			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Acute lymphoblastic leukemia(62;0.158)				ACAGTTCCTCCTTTAATGATT	0.368000														29			29		4.22769e-11	5.1512e-11	1	1	0
SYNJ2	8871	broad.mit.edu	37	6	158490681	158490681	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:158490681G>A	uc003qqx.2	+	13	2022	c.1916G>A	c.(1915-1917)cGt>cAt	p.R639H	SYNJ2_uc003qqw.2_Missense_Mutation_p.R639H|SYNJ2_uc003qqy.2_Missense_Mutation_p.R402H|SYNJ2_uc003qqz.2_Missense_Mutation_p.R256H|SYNJ2_uc003qra.2_5'Flank	NM_003898	NP_001171559	O15056	SYNJ2_HUMAN	Homo sapiens synaptojanin 2 (SYNJ2), transcript variant 1, mRNA.	639							RNA binding|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		ATCTTTGTACGTCCATACCAT	0.458000														25			21		0	0	1	0	0
CYFIP2	26999	broad.mit.edu	37	5	156727724	156727724	+	Splice_Site	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:156727724G>A	uc021ygm.1	+	6	523	c.385_splice	c.e6-1	p.R129_splice	CYFIP2_uc011ddn.2_Splice_Site_p.R104_splice|CYFIP2_uc011ddo.2_Intron|CYFIP2_uc021ygn.1_Splice_Site_p.R129_splice|CYFIP2_uc021ygo.1_Splice_Site_p.R129_splice|CYFIP2_uc003lwt.3_Splice_Site_p.R8_splice|CYFIP2_uc011ddp.2_Intron	NM_001037333	NP_001032410	Q96F07	CYFP2_HUMAN	Homo sapiens cytoplasmic FMR1 interacting protein 2 (CYFIP2), transcript variant 1, mRNA.	130					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding			breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TGCCCCCAGCGCAAGGCCATC	0.642000														5			5		0	0	1	0	0
TIPARP	25976	broad.mit.edu	37	3	156411977	156411977	+	Splice_Site	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:156411977G>T	uc003fav.3	+	3	1508	c.1086_splice	c.e3+1	p.E362_splice	TIPARP_uc003faw.3_Splice_Site_p.E362_splice|TIPARP_uc021xgg.1_Splice_Site_p.E362_splice	NM_015508	NP_056323	Q7Z3E1	PARPT_HUMAN	Homo sapiens TCDD-inducible poly(ADP-ribose) polymerase (TIPARP), transcript variant 2, mRNA.	362	WWE.						NAD+ ADP-ribosyltransferase activity|nucleic acid binding|protein binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			AGTATCCCGAGGTATTTACAG	0.373000														99			6		3.59834e-05	3.95114e-05	1	1	0
LRRC41	10489	broad.mit.edu	37	1	46751289	46751289	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:46751289A>G	uc001cpn.3	-	3	1284	c.1240T>C	c.(1240-1242)Tat>Cat	p.Y414H	LRRC41_uc010omb.2_Missense_Mutation_p.Y414H|LRRC41_uc001cpo.1_Missense_Mutation_p.Y414H	NM_006369	NP_006360	Q15345	LRC41_HUMAN	Homo sapiens leucine rich repeat containing 41 (LRRC41), mRNA.	414										breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					ACGAAGTCATACAGGTCTTCA	0.562000														75			28		0	0	1	0	0
NDNF	79625	broad.mit.edu	37	4	121958553	121958553	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:121958553C>T	uc003idq.1	-	3	1100	c.573G>A	c.(571-573)acG>acA	p.T191T		NM_024574	NP_078850	Q8TB73	CD031_HUMAN	Homo sapiens neuron-derived neurotrophic factor (NDNF), mRNA.	191										breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						CCAAAGTGACCGTGGTGCGCC	0.478000														89			45		0	0	1	0	0
STK19	8859	broad.mit.edu	37	6	31940211	31940211	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31940211T>C	uc003nyv.3	+	1	481	c.353T>C	c.(352-354)cTg>cCg	p.L118P	DOM3Z_uc003nyp.1_5'Flank|DOM3Z_uc003nyq.1_5'Flank|DOM3Z_uc010jtl.1_5'Flank|STK19_uc003nyt.3_Missense_Mutation_p.L75P|DOM3Z_uc003nyu.1_5'Flank|STK19_uc011dow.2_Missense_Mutation_p.L118P|STK19_uc011dox.1_Missense_Mutation_p.L75P|STK19_uc003nyw.3_Missense_Mutation_p.L118P|STK19_uc010jtn.1_Non-coding_Transcript	NM_032454	NP_115830	P49842	STK19_HUMAN	Homo sapiens serine/threonine kinase 19 (STK19), transcript variant 2, mRNA.	118						nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			skin(5)|upper_aerodigestive_tract(2)	7						AGGCATCACCTGATCCCGGAG	0.587000														47			29		0	0	1	0	0
LRFN5	145581	broad.mit.edu	37	14	42360875	42360875	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:42360875G>A	uc001wvm.3	+	3	3006	c.1808G>A	c.(1807-1809)tGt>tAt	p.C603Y	LRFN5_uc010ana.3_Intron	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 5 (LRFN5), mRNA.	603						integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		GCCCAGTGTTGTAAAGCTACC	0.488000										HNSCC(30;0.082)				32			12		0	0	1	0	0
NOTCH1	4851	broad.mit.edu	37	9	139396309	139396309	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:139396309C>T	uc004chz.3	-	29	5529	c.5529G>A	c.(5527-5529)tgG>tgA	p.W1843*		NM_017617	NP_060087	P46531	NOTC1_HUMAN	Homo sapiens notch 1 (NOTCH1), mRNA.	1843					Notch receptor processing|aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.W1844*(1)|p.W1843*(1)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GCTGCTGAGTCCACTGCCGGT	0.647000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)				18			7		0	0	1	0	0
GRM3	2913	broad.mit.edu	37	7	86394808	86394808	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:86394808C>A	uc003uid.3	+	1	1446	c.347C>A	c.(346-348)tCt>tAt	p.S116Y	GRM3_uc010lef.3_Missense_Mutation_p.S114Y|GRM3_uc010leg.3_Intron|GRM3_uc010leh.3_Intron	NM_000840	NP_000831	Q14832	GRM3_HUMAN	Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.	116					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	GTCAGGGCATCTTTGACAAAA	0.443000														145			82		2.43516e-34	3.22469e-34	1	1	0
HIPK1	204851	broad.mit.edu	37	1	114512727	114512727	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:114512727G>T	uc001eem.3	+	13	3082	c.2921G>T	c.(2920-2922)aGa>aTa	p.R974I	HIPK1_uc001eel.3_Missense_Mutation_p.R974I|HIPK1_uc001een.3_Missense_Mutation_p.R974I|HIPK1_uc001eeo.3_Missense_Mutation_p.R600I|HIPK1_uc001eep.3_Missense_Mutation_p.R580I|HIPK1_uc001eeq.3_Missense_Mutation_p.R266I	NM_198268	NP_938010	Q86Z02	HIPK1_HUMAN	Homo sapiens homeodomain interacting protein kinase 1 (HIPK1), transcript variant 1, mRNA.	974	Interaction with TP53.|Required for localization to nuclear speckles (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGGCCTGGCAGAGTTGTGGCA	0.542000														110			11		0.00010058	0.000109296	1	1	0
SCRN2	90507	broad.mit.edu	37	17	45916866	45916866	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:45916866G>A	uc002imd.3	-	3	626	c.500C>T	c.(499-501)aCt>aTt	p.T167I	SCRN2_uc002imf.3_Missense_Mutation_p.T167I	NM_138355	NP_612364	Q96FV2	SCRN2_HUMAN	Homo sapiens secernin 2 (SCRN2), transcript variant 1, mRNA.	167					proteolysis		dipeptidase activity			cervix(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	14						CCACGCCTCAGTGCGGTCAGC	0.607000														96			6		0	0	1	0	0
TINAG	27283	broad.mit.edu	37	6	54214695	54214695	+	Splice_Site	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:54214695G>A	uc003pcj.2	+	7	1226	c.1080_splice	c.e7+1	p.N360_splice	TINAG_uc010jzt.2_Splice_Site	NM_014464	NP_055279	Q9UJW2	TINAG_HUMAN	Homo sapiens tubulointerstitial nephritis antigen (TINAG), mRNA.	360					Malpighian tubule morphogenesis|cell adhesion|immune response|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			CTCTTCCAACGTAAGTATAAA	0.353000														23			14		0	0	1	0	0
HKDC1	80201	broad.mit.edu	37	10	71016832	71016832	+	Missense_Mutation	SNP	A	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:71016832A>T	uc001jpf.4	+	12	2010	c.1877A>T	c.(1876-1878)gAc>gTc	p.D626V	HKDC1_uc010qje.2_Missense_Mutation_p.D489V|HKDC1_uc009xqb.3_5'Flank	NM_025130	NP_079406	Q2TB90	HKDC1_HUMAN	Homo sapiens hexokinase domain containing 1 (HKDC1), mRNA.	626					glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						AAGGCCACTGACTGTGAAGGG	0.522000														54			10		0	0	1	0	0
ACTN2	88	broad.mit.edu	37	1	236924466	236924466	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:236924466C>T	uc001hyf.2	+	19	2723	c.2519C>T	c.(2518-2520)tCt>tTt	p.S840F	ACTN2_uc001hyg.2_Missense_Mutation_p.S632F|ACTN2_uc009xgi.1_Missense_Mutation_p.S840F|ACTN2_uc010pxu.1_Missense_Mutation_p.S529F	NM_001103	NP_001094	P35609	ACTN2_HUMAN	Homo sapiens actinin, alpha 2 (ACTN2), mRNA.	840					focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	Z disc|actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium	FATZ 1 binding|ZASP binding|actin binding|calcium ion binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin Z domain binding|titin binding			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			ATCCTGGCTTCTGATAAGGTC	0.473000														24			25		0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62297964	62297964	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:62297964G>A	uc001ntl.3	-	4	4225	c.3925C>T	c.(3925-3927)Ccc>Tcc	p.P1309S	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	1309					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TTAAACTTGGGGCCCTTCAGC	0.527000														95			78		0	0	1	0	0
ZP2	7783	broad.mit.edu	37	16	21210953	21210953	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:21210953C>T	uc010bwn.1	-	15	2037	c.1955G>A	c.(1954-1956)cGa>cAa	p.R652Q	ZP2_uc002dii.2_Missense_Mutation_p.R622Q	NM_003460	NP_003451	Q05996	ZP2_HUMAN	Homo sapiens zona pellucida glycoprotein 2 (sperm receptor) (ZP2), mRNA.	622					binding of sperm to zona pellucida|intracellular protein transport	Golgi apparatus|endoplasmic reticulum|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		AGGGGAGAGTCGATTACAGAT	0.478000														20			18		0	0	1	0	0
DOCK3	1795	broad.mit.edu	37	3	51263172	51263172	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:51263172T>C	uc011bds.2	+	14	1368	c.1345T>C	c.(1345-1347)Tat>Cat	p.Y449H		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	Homo sapiens dedicator of cytokinesis 3 (DOCK3), mRNA.	449	DHR-1.					cytoplasm	GTP binding|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		AGTGACCATGTATGTGCTTTA	0.443000														57			42		0	0	1	0	0
FLNA	2316	broad.mit.edu	37	X	153596036	153596036	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153596036C>A	uc004fkk.2	-	3	942	c.693G>T	c.(691-693)caG>caT	p.Q231H	FLNA_uc010nuu.1_Missense_Mutation_p.Q231H	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	Homo sapiens filamin A, alpha (FLNA), transcript variant 2, mRNA.	231	Actin-binding.|CH 2.				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	Fc-gamma receptor I complex binding|GTP-Ral binding|Rac GTPase binding|actin filament binding|glycoprotein binding|protein homodimerization activity|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AGTCATCCGCCTGCTGCATGG	0.667000														72			44		6.03219e-31	7.96523e-31	1	1	0
WDR3	10885	broad.mit.edu	37	1	118488742	118488742	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:118488742T>C	uc010oxe.1	+	11	1428	c.1362T>C	c.(1360-1362)tgT>tgC	p.C454C	WDR3_uc001ehi.2_Intron	NM_006784	NP_006775	Q9UNX4	WDR3_HUMAN	Homo sapiens WD repeat domain 3 (WDR3), mRNA.	454						nuclear membrane|nucleolus		p.T453T(1)		breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		CAATGACCTGTGAATATGCAC	0.383000														59			38		0	0	1	0	0
OBSL1	23363	broad.mit.edu	37	2	220422967	220422967	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:220422967G>A	uc010fwk.3	-	9	3755	c.3441C>T	c.(3439-3441)gaC>gaT	p.D1147D	OBSL1_uc002vmh.1_Silent_p.D138D|OBSL1_uc010zli.1_Intron|OBSL1_uc010fwl.2_Silent_p.D1147D	NM_015311	NP_056126	O75147	OBSL1_HUMAN	Homo sapiens obscurin-like 1 (OBSL1), transcript variant 1, mRNA.	1147	Ig-like 9.				cardiac myofibril assembly	M band|Z disc|intercalated disc|perinuclear region of cytoplasm	cytoskeletal adaptor activity						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		ACTCCCCGGCGTCCTCAGGCT	0.672000														7			7		0	0	1	0	0
SYT6	148281	broad.mit.edu	37	1	114640391	114640391	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:114640391T>C	uc021osa.1	-	5	1551	c.1473A>G	c.(1471-1473)gcA>gcG	p.A491A	SYT6_uc021orz.1_Silent_p.A406A|SYT6_uc001eev.3_Silent_p.A406A|SYT6_uc001eeu.3_Silent_p.A51A	NM_001253772	NP_001240701	Q5T7P8	SYT6_HUMAN	Homo sapiens synaptotagmin VI (SYT6), transcript variant 1, mRNA.	491	Necessary for cell membrane association (isoform 2) (By similarity).				acrosomal vesicle exocytosis	cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane	clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity			central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGTGCCAGTGTGCGATGGGCT	0.567000														35			36		0	0	1	0	0
EVPL	2125	broad.mit.edu	37	17	74004796	74004796	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:74004796C>T	uc010wss.1	-	21	4784	c.4556G>A	c.(4555-4557)cGg>cAg	p.R1519Q	EVPL_uc002jqi.2_Missense_Mutation_p.R1497Q|EVPL_uc010wst.1_Missense_Mutation_p.R967Q	NM_001988	NP_001979	Q92817	EVPL_HUMAN	Homo sapiens envoplakin (EVPL), mRNA.	1497	Central fibrous rod domain.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						CTTGCACTCCCGATTCAGCTC	0.582000														73			42		0	0	1	0	0
STOX2	56977	broad.mit.edu	37	4	184930405	184930405	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:184930405C>T	uc003ivz.1	+	2	1849	c.414C>T	c.(412-414)atC>atT	p.I138I	STOX2_uc003iwa.1_5'UTR	NM_020225	NP_064610	Q9P2F5	STOX2_HUMAN	Homo sapiens storkhead box 2 (STOX2), mRNA.	138					embryo development|maternal placenta development					breast(1)|endometrium(7)|lung(6)	14		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)		GCTACTTCATCGTGACCCCAC	0.493000														10			10		0	0	1	0	0
CLCF1	23529	broad.mit.edu	37	11	67132614	67132614	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:67132614C>T	uc001okq.3	-	2	867	c.671G>A	c.(670-672)gGc>gAc	p.G224D	LOC100130987_uc010rpo.1_Intron|CLCF1_uc010rpp.2_Missense_Mutation_p.G214D	NM_013246	NP_001159684	Q9UBD9	CLCF1_HUMAN	Homo sapiens cardiotrophin-like cytokine factor 1 (CLCF1), transcript variant 1, mRNA.	224					B cell differentiation|JAK-STAT cascade|cytokine-mediated signaling pathway|negative regulation of neuron apoptosis|positive regulation of B cell proliferation|positive regulation of astrocyte differentiation|positive regulation of immunoglobulin production|positive regulation of isotype switching to IgE isotypes|positive regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	ciliary neurotrophic factor receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity			endometrium(1)|urinary_tract(1)	2			BRCA - Breast invasive adenocarcinoma(15;2.39e-06)			AAGTCAGAAGCCATGAGCCCC	0.597000														38			17		0	0	1	0	0
WNK4	65266	broad.mit.edu	37	17	40939405	40939405	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:40939405A>G	uc002ibj.3	+	6	1654	c.1586A>G	c.(1585-1587)gAa>gGa	p.E529G	WNK4_uc010wgx.2_Missense_Mutation_p.E193G|WNK4_uc002ibk.1_Missense_Mutation_p.E301G|WNK4_uc010wgy.1_5'UTR	NM_032387	NP_115763	Q96J92	WNK4_HUMAN	Homo sapiens WNK lysine deficient protein kinase 4 (WNK4), mRNA.	529					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		AAAGCAAGGGAATTGGAGGCA	0.627000														52			8		0	0	1	0	0
ALS2CL	259173	broad.mit.edu	37	3	46718343	46718343	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:46718343C>T	uc003cqa.2	-	16	2120	c.1927G>A	c.(1927-1929)Gag>Aag	p.E643K	ALS2CL_uc003cpx.2_5'UTR|ALS2CL_uc003cpy.2_Non-coding_Transcript|ALS2CL_uc003cpz.2_Missense_Mutation_p.E158K|ALS2CL_uc003cqc.2_Non-coding_Transcript|ALS2CL_uc003cqb.2_Missense_Mutation_p.E643K	NM_001190707	NP_667340	Q60I27	AL2CL_HUMAN	Homo sapiens ALS2 C-terminal like (ALS2CL), transcript variant 2, mRNA.	643					endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|identical protein binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		CCTCACCTCTCGCAGGACAGG	0.672000														70			11		0	0	1	0	0
PRPF40B	25766	broad.mit.edu	37	12	50036069	50036069	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:50036069C>T	uc001rur.1	+	18	1933	c.1870C>T	c.(1870-1872)Cgc>Tgc	p.R624C	FMNL3_uc001ruv.1_3'UTR|FMNL3_uc001ruw.1_3'UTR|PRPF40B_uc001rup.1_Missense_Mutation_p.R646C|PRPF40B_uc001ruq.1_Missense_Mutation_p.R611C|PRPF40B_uc001rus.1_Missense_Mutation_p.R567C|FMNL3_uc001rut.1_3'UTR|FMNL3_uc001ruu.1_3'UTR	NM_001031698	NP_001026868	Q6NWY9	PR40B_HUMAN	Homo sapiens PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae) (PRPF40B), transcript variant 1, mRNA.	624					RNA splicing|mRNA processing	nuclear speck				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						GGAGGAGGCACGCAGGATGCG	0.637000														60			33		0	0	1	0	0
TOM1L2	146691	broad.mit.edu	37	17	17770235	17770235	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:17770235G>A	uc002grz.4	-	8	1072	c.915C>T	c.(913-915)ttC>ttT	p.F305F	TOM1L2_uc002gry.4_Silent_p.F255F|TOM1L2_uc010vwy.2_Silent_p.F252F|TOM1L2_uc010cpr.3_Silent_p.F260F|TOM1L2_uc010vwz.2_Silent_p.F157F|TOM1L2_uc010vxa.2_Silent_p.F207F|TOM1L2_uc002grv.4_Silent_p.F38F	NM_001082968	NP_001076437	Q6ZVM7	TM1L2_HUMAN	Homo sapiens target of myb1-like 2 (chicken) (TOM1L2), transcript variant 3, mRNA.	305	GAT.				intracellular protein transport	intracellular		p.L304L(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(2)	10	all_neural(463;0.228)					TGTATCGTTCGAACCTAACAG	0.517000														52			11		0	0	1	0	0
C8B	732	broad.mit.edu	37	1	57395139	57395139	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:57395139G>A	uc001cyp.3	-	11	1781	c.1714C>T	c.(1714-1716)Cct>Tct	p.P572S	C8B_uc010oon.2_Missense_Mutation_p.P510S|C8B_uc010ooo.2_Missense_Mutation_p.P520S	NM_000066	NP_000057	P07358	CO8B_HUMAN	Homo sapiens complement component 8, beta polypeptide (C8B), mRNA.	572	TSP type-1 2.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						TTTTGAGGAGGTGGATTGTTA	0.483000														34			22		0	0	1	0	0
KRT26	353288	broad.mit.edu	37	17	38922856	38922856	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:38922856G>T	uc002hvf.3	-	7	1364	c.1318C>A	c.(1318-1320)Ctt>Att	p.L440I		NM_181539	NP_853517	Q7Z3Y9	K1C26_HUMAN	Homo sapiens keratin 26 (KRT26), mRNA.	440	Tail.					intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(5)	16		Breast(137;0.00526)				CTCAGTGAAAGGAGATTGCCA	0.338000														79			8		5.4927e-09	6.49148e-09	1	1	0
NSL1	25936	broad.mit.edu	37	1	212964948	212964948	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:212964948C>T	uc001hjn.3	-	0	192	c.158G>A	c.(157-159)tGc>tAc	p.C53Y	NSL1_uc001hjm.3_Missense_Mutation_p.C53Y|NSL1_uc010pti.2_Missense_Mutation_p.C53Y|TATDN3_uc001hjo.2_5'Flank|TATDN3_uc010ptj.1_5'Flank|TATDN3_uc010ptk.1_5'Flank|TATDN3_uc001hjp.2_5'Flank|TATDN3_uc010ptl.1_5'Flank	NM_015471	NP_056286	Q96IY1	NSL1_HUMAN	Homo sapiens NSL1, MIND kinetochore complex component, homolog (S. cerevisiae) (NSL1), transcript variant 1, mRNA.	53					cell division|chromosome segregation|mitotic prometaphase	MIS12/MIND type complex|cytosol|nucleus	protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	9				OV - Ovarian serous cystadenocarcinoma(81;0.00597)|all cancers(67;0.00893)|GBM - Glioblastoma multiforme(131;0.0514)|Epithelial(68;0.102)		GAAGCGGCCGCACAGTTGTAG	0.637000														103			86		0	0	1	0	0
ANGEL1	23357	broad.mit.edu	37	14	77272762	77272762	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:77272762C>T	uc001xsv.3	-	4	1490	c.1377G>A	c.(1375-1377)tgG>tgA	p.W459*		NM_015305	NP_056120	Q9UNK9	ANGE1_HUMAN	Homo sapiens angel homolog 1 (Drosophila) (ANGEL1), mRNA.	459										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	22			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)		ATTTCACCTTCCAGGCTGGCA	0.537000														26			8		0	0	1	0	0
NCKAP5L	57701	broad.mit.edu	37	12	50190545	50190545	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:50190545C>T	uc009zlk.2	-	7	1300	c.1098G>A	c.(1096-1098)gcG>gcA	p.A366A	NCKAP5L_uc001rvc.3_5'Flank|NCKAP5L_uc001rvb.2_5'UTR	NM_001037806	NP_001032895	Q9HCH0	NCK5L_HUMAN	Homo sapiens NCK-associated protein 5-like (NCKAP5L), mRNA.	362	Pro-rich.									central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						GCTGTGGGGGCGCCTGGTCTG	0.657000														24			14		0	0	1	0	0
SREBF1	6720	broad.mit.edu	37	17	17722350	17722350	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:17722350G>T	uc002gru.2	-	4	1239	c.1045C>A	c.(1045-1047)Ctg>Atg	p.L349M	SREBF1_uc002grp.2_5'Flank|SREBF1_uc002grq.2_5'UTR|SREBF1_uc002grr.2_Missense_Mutation_p.L95M|SREBF1_uc002grs.2_Missense_Mutation_p.L325M|SREBF1_uc002grt.2_Missense_Mutation_p.L379M|SREBF1_uc010cpp.1_Missense_Mutation_p.L325M|SREBF1_uc010cpq.1_Missense_Mutation_p.L349M	NM_004176	NP_004167	P36956	SRBP1_HUMAN	Homo sapiens sterol regulatory element binding transcription factor 1 (SREBF1), transcript variant 2, mRNA.	349	Helix-loop-helix motif.|Interaction with LMNA (By similarity).				cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter	ER to Golgi transport vesicle membrane|Golgi membrane|endoplasmic reticulum|endoplasmic reticulum membrane|integral to membrane|nuclear envelope|nucleus	protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						CCCACCACCAGATCCTTGAGC	0.587000														74			9		3.09899e-07	3.55757e-07	1	1	0
FOLH1	2346	broad.mit.edu	37	11	49207305	49207305	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:49207305G>A	uc001ngy.3	-	5	1003	c.742C>T	c.(742-744)Ctt>Ttt	p.L248F	FOLH1_uc009yly.3_Missense_Mutation_p.L233F|FOLH1_uc009ylz.3_Missense_Mutation_p.L233F|FOLH1_uc001ngz.3_Missense_Mutation_p.L248F|FOLH1_uc009yma.3_Intron	NM_004476	NP_001180402	Q04609	FOLH1_HUMAN	Homo sapiens folate hydrolase (prostate-specific membrane antigen) 1 (FOLH1), transcript variant 1, mRNA.	248					proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity	p.L248V(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	CCTCCAGGAAGATTCCAACCA	0.507000														26			11		0	0	1	0	0
ASIC3	9311	broad.mit.edu	37	7	150746182	150746182	+	Missense_Mutation	SNP	C	A	A	rs62001891	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:150746182C>A	uc003wio.2	+	0	578	c.210C>A	c.(208-210)ttC>ttA	p.F70L	ASIC3_uc003win.2_Missense_Mutation_p.F70L|ASIC3_uc003wip.2_Missense_Mutation_p.F70L|ASIC3_uc003wiq.2_Non-coding_Transcript	NM_020321	NP_064717	Q9UHC3	ACCN3_HUMAN	Homo sapiens amiloride-sensitive cation channel 3 (ACCN3), transcript variant 2, mRNA.	70					sensory perception|signal transduction	cytoplasm|integral to plasma membrane	ligand-gated sodium channel activity										ACAGGGAGTTCCACCACCAGA	0.657000														61			17		1.55795e-14	1.95195e-14	1	1	0
ATXN2L	11273	broad.mit.edu	37	16	28846456	28846456	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:28846456C>A	uc002dqy.3	+	18	2678	c.2511C>A	c.(2509-2511)tcC>tcA	p.S837S	NPIPL1_uc010vct.2_Intron|ATXN2L_uc002dqz.3_Silent_p.S837S|ATXN2L_uc002dra.3_Silent_p.S837S|ATXN2L_uc002drb.3_Silent_p.S837S|ATXN2L_uc002drc.3_Silent_p.S837S|ATXN2L_uc010vdb.2_Silent_p.S843S|ATXN2L_uc002dre.3_Silent_p.S837S|ATXN2L_uc002drf.3_Silent_p.S246S|ATXN2L_uc002drg.3_Silent_p.S119S	NM_148414	NP_680780	Q8WWM7	ATX2L_HUMAN	Homo sapiens ataxin 2-like (ATXN2L), transcript variant C, mRNA.	837						membrane				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						TCGTGTCATCCTCTACCCCTC	0.642000														79			33		6.84511e-11	8.30975e-11	1	1	0
OTOGL	283310	broad.mit.edu	37	12	80647271	80647271	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:80647271C>T	uc001szd.3	+	12	1290	c.1284C>T	c.(1282-1284)tgC>tgT	p.C428C		NM_173591	NP_775862			Homo sapiens otogelin-like (OTOGL), mRNA.											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						ATGGGACTTGCATCTCCTTGG	0.333000														37			15		0	0	1	0	0
GFRA1	2674	broad.mit.edu	37	10	117884797	117884797	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:117884797A>G	uc001lcj.3	-	5	1403	c.705T>C	c.(703-705)taT>taC	p.Y235Y	GFRA1_uc001lci.3_Silent_p.Y230Y|GFRA1_uc009xyr.3_Silent_p.Y230Y	NM_005264	NP_005255	P56159	GFRA1_HUMAN	Homo sapiens GDNF family receptor alpha 1 (GFRA1), transcript variant 1, mRNA.	235					axon guidance	anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity			endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(174;0.21)		all cancers(201;0.0337)		CCCTCTCTTCATAGGAGCACA	0.557000														46			10		0	0	1	0	0
PUM1	9698	broad.mit.edu	37	1	31467908	31467908	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:31467908C>A	uc001bsi.1	-	5	993	c.880G>T	c.(880-882)Gat>Tat	p.D294Y	PUM1_uc001bsf.1_5'Flank|PUM1_uc001bsh.1_Missense_Mutation_p.D294Y|PUM1_uc001bsj.1_Missense_Mutation_p.D294Y|PUM1_uc010oga.1_Missense_Mutation_p.D198Y|PUM1_uc001bsk.1_Missense_Mutation_p.D330Y|PUM1_uc010ogb.1_Missense_Mutation_p.D234Y	NM_014676	NP_055491	Q14671	PUM1_HUMAN	Homo sapiens pumilio homolog 1 (Drosophila) (PUM1), transcript variant 2, mRNA.	294					cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		AACCTAAAATCTTTGACGTCT	0.373000														146			12		0.0809354	0.0822074	1	1	0
LLGL1	3996	broad.mit.edu	37	17	18145559	18145559	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:18145559G>A	uc002gsp.3	+	19	3023	c.2962G>A	c.(2962-2964)Gga>Aga	p.G988R		NM_004140	NP_004131	Q15334	L2GL1_HUMAN	Homo sapiens lethal giant larvae homolog 1 (Drosophila) (LLGL1), mRNA.	988					cortical actin cytoskeleton organization|exocytosis|protein complex assembly	cortical actin cytoskeleton	protein kinase binding|structural molecule activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_neural(463;0.228)					GAGCCTTGATGGAAGCCCTGA	0.642000														90			54		0	0	1	0	0
NOS1	4842	broad.mit.edu	37	12	117669819	117669819	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:117669819G>A	uc001twn.2	-	22	4166	c.3455C>T	c.(3454-3456)gCc>gTc	p.A1152V	NOS1_uc021ren.1_Missense_Mutation_p.A782V|NOS1_uc021reo.1_Missense_Mutation_p.A782V|NOS1_uc001twm.2_Missense_Mutation_p.A1118V	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	1118	FAD-binding FR-type.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	AGCTAGGGAGGCAAACTGCTG	0.617000														15			9		0	0	1	0	0
EPG5	57724	broad.mit.edu	37	18	43481096	43481096	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:43481096T>G	uc002lbm.3	-	25	4611	c.4511A>C	c.(4510-4512)gAg>gCg	p.E1504A	EPG5_uc010xcr.1_Non-coding_Transcript|EPG5_uc010xcs.1_Non-coding_Transcript|EPG5_uc010xcq.1_Missense_Mutation_p.E58A|EPG5_uc002lbn.2_Missense_Mutation_p.E379A	NM_020964	NP_066015	Q9HCE0	EPG5_HUMAN	Homo sapiens ectopic P-granules autophagy protein 5 homolog (C. elegans) (EPG5), mRNA.	1504					autophagy					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						CTGGGGAGCCTCATGCTTCCG	0.488000														42			12		0	0	1	0	0
TRIM13	10206	broad.mit.edu	37	13	50586242	50586242	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:50586242A>G	uc001vdp.1	+	3	593	c.175A>G	c.(175-177)Aca>Gca	p.T59A	DLEU2_uc001vdn.1_Intron|DLEU2_uc001vdo.1_Intron|TRIM13_uc001vdq.1_Missense_Mutation_p.T56A|TRIM13_uc001vdr.1_Missense_Mutation_p.T56A|TRIM13_uc001vds.1_Missense_Mutation_p.T56A|TRIM13_uc021rjq.1_Missense_Mutation_p.T56A	NM_001007278	NP_998755	O60858	TRI13_HUMAN	Homo sapiens tripartite motif containing 13 (TRIM13), transcript variant 4, mRNA.	56					ER-associated protein catabolic process|anatomical structure morphogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination	cytoplasm|endoplasmic reticulum membrane|integral to membrane	protein binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(5)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	10		Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.53e-10)|COAD - Colon adenocarcinoma(199;0.205)		CAAGTGTCCTACATGCCGTAA	0.433000														47			7		0	0	1	0	0
DNMT1	1786	broad.mit.edu	37	19	10277310	10277310	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10277310G>A	uc002mng.3	-	9	987	c.807C>T	c.(805-807)ggC>ggT	p.G269G	DNMT1_uc010xlc.2_Silent_p.G285G|DNMT1_uc002mnh.3_Silent_p.G164G|DNMT1_uc010xld.2_Silent_p.G269G|DNMT1_uc002mnk.3_Non-coding_Transcript	NM_001379	NP_001370	P26358	DNMT1_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 1 (DNMT1), transcript variant 2, mRNA.	269	Interaction with the PRC2/EED-EZH2 complex (By similarity).				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	CAGCCTGCACGCCTGCCCTGG	0.567000														29			29		0	0	1	0	0
INTS8	55656	broad.mit.edu	37	8	95877901	95877901	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:95877901G>A	uc003yhb.3	+	16	2370	c.2244G>A	c.(2242-2244)acG>acA	p.T748T	INTS8_uc011lgq.2_Non-coding_Transcript|INTS8_uc011lgr.2_Non-coding_Transcript|INTS8_uc010mba.3_Silent_p.T575T	NM_017864	NP_060334	Q75QN2	INT8_HUMAN	Homo sapiens integrator complex subunit 8 (INTS8), mRNA.	748					snRNA processing	integrator complex	protein binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	28	Breast(36;1.05e-06)					GGGAATCTACGTTAGGTATCA	0.338000														112			60		0	0	1	0	0
ZFP14	57677	broad.mit.edu	37	19	36831672	36831672	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:36831672G>A	uc010xtd.2	-	3	1138	c.1059C>T	c.(1057-1059)tgC>tgT	p.C353C	ZFP14_uc010eex.2_Silent_p.C352C	NM_020917	NP_065968	Q9HCL3	ZFP14_HUMAN	Homo sapiens zinc finger protein 14 homolog (mouse) (ZFP14), mRNA.	352					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	26	Esophageal squamous(110;0.162)					TAAGTTGTTGGCATATTCTAA	0.393000														46			30		0	0	1	0	0
GABRB2	2561	broad.mit.edu	37	5	160763653	160763653	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:160763653A>G	uc003lys.1	-	6	883	c.665T>C	c.(664-666)gTt>gCt	p.V222A	GABRB2_uc011deh.1_Missense_Mutation_p.V61A|GABRB2_uc003lyr.1_Missense_Mutation_p.V222A|GABRB2_uc003lyt.1_Missense_Mutation_p.V222A|GABRB2_uc021yhg.1_Missense_Mutation_p.V159A	NM_021911	NP_068711	P47870	GBRB2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 2 (GABRB2), transcript variant 1, mRNA.	222					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity	p.K221Q(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	GGAAAAAACAACCTTCTTGGT	0.358000														41			33		0	0	1	0	0
NOTCH2	4853	broad.mit.edu	37	1	120464876	120464876	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:120464876C>A	uc001eik.3	-	27	5493	c.5196G>T	c.(5194-5196)caG>caT	p.Q1732H		NM_024408	NP_077719	Q04721	NOTC2_HUMAN	Homo sapiens notch 2 (NOTCH2), transcript variant 1, mRNA.	1732					Notch receptor processing|Notch signaling pathway|anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCACAGCATCCTGTCCCACTG	0.468000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome					39			6		5.18039e-06	5.80246e-06	1	1	0
ACSS2	55902	broad.mit.edu	37	20	33501898	33501898	+	Splice_Site	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:33501898G>A	uc010gey.2	+	6	765	c.644_splice	c.e6-1	p.D215_splice	ACSS2_uc002xbc.2_Splice_Site_p.D120_splice|ACSS2_uc010zum.1_Intron|ACSS2_uc002xbd.2_Splice_Site_p.D215_splice|ACSS2_uc002xbe.2_Intron	NM_001076552	NP_001070020	Q9NR19	ACSA_HUMAN	Homo sapiens acyl-CoA synthetase short-chain family member 2 (ACSS2), transcript variant 2, mRNA.	215					ethanol oxidation|lipid biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	ATP binding|acetate-CoA ligase activity|protein binding			cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(9)	21					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	GCTCCCCAAAGATGCCTTCTA	0.542000														20			5		0	0	1	0	0
DDX60	55601	broad.mit.edu	37	4	169183841	169183841	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:169183841C>T	uc003irp.3	-	22	3429	c.3137G>A	c.(3136-3138)cGg>cAg	p.R1046Q		NM_017631	NP_060101	Q8IY21	DDX60_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 (DDX60), mRNA.	1046							ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		TACCTGGGCCCGAGGCCAACT	0.378000														68			35		0	0	1	0	0
TPM1	7168	broad.mit.edu	37	15	63354834	63354834	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:63354834T>G	uc002alm.3	+	8	1079	c.888T>G	c.(886-888)gaT>gaG	p.D296E	TPM1_uc002alg.3_Missense_Mutation_p.D254E|TPM1_uc002alh.3_Missense_Mutation_p.D254E|TPM1_uc002ali.3_Missense_Mutation_p.D254E|TPM1_uc002alj.3_Missense_Mutation_p.D254E|TPM1_uc002alk.3_Missense_Mutation_p.D254E|TPM1_uc002all.3_Missense_Mutation_p.D254E|TPM1_uc010uie.2_Missense_Mutation_p.D254E|TPM1_uc002alp.3_Missense_Mutation_p.D254E|TPM1_uc010uif.2_Missense_Mutation_p.D218E|TPM1_uc002alr.3_Missense_Mutation_p.D218E|TPM1_uc002als.3_Missense_Mutation_p.D218E|TPM1_uc010uig.2_Missense_Mutation_p.D218E|TPM1_uc002alt.3_Missense_Mutation_p.D218E	NM_001018008	NP_001018008	P09493	TPM1_HUMAN	Homo sapiens tropomyosin 1 (alpha) (TPM1), transcript variant 6, mRNA.	254					cardiac muscle contraction|cellular component movement|cellular response to reactive oxygen species|muscle filament sliding|negative regulation of cell migration|positive regulation of ATPase activity|positive regulation of cell adhesion|positive regulation of heart rate by epinephrine|positive regulation of stress fiber assembly|regulation of muscle contraction|ruffle organization|sarcomere organization|ventricular cardiac muscle tissue morphogenesis|wound healing	bleb|cytosol|muscle thin filament tropomyosin|ruffle membrane|stress fiber	actin binding|structural constituent of cytoskeleton|structural constituent of muscle			endometrium(1)|large_intestine(1)|lung(2)	4						AAAGCATTGATGACTTAGAAG	0.368000														54			31		0	0	1	0	0
UBR4	23352	broad.mit.edu	37	1	19503154	19503154	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:19503154C>T	uc001bbi.3	-	19	2709	c.2705G>A	c.(2704-2706)cGg>cAg	p.R902Q	UBR4_uc001bbm.1_Missense_Mutation_p.R113Q	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 4 (UBR4), mRNA.	902					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		AGTGGTTGCCCGGCGGCTGTT	0.428000														46			10		0	0	1	0	0
DPP3	10072	broad.mit.edu	37	11	66260289	66260289	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:66260289A>C	uc001oig.1	+	9	1153	c.1091A>C	c.(1090-1092)gAg>gCg	p.E364A	DPP3_uc001oif.1_Missense_Mutation_p.E364A|DPP3_uc010rpe.1_Missense_Mutation_p.E353A	NM_005700	NP_569710	Q9NY33	DPP3_HUMAN	Homo sapiens dipeptidyl-peptidase 3 (DPP3), transcript variant 1, mRNA.	364					proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						CCAACCTTTGAGAAGGACAAG	0.592000														71			6		0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124336138	124336138	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:124336138G>A	uc001lgk.1	+	6	613	c.507G>A	c.(505-507)gtG>gtA	p.V169V	DMBT1_uc001lgl.1_Silent_p.V169V|DMBT1_uc001lgm.1_Silent_p.V169V|DMBT1_uc021qaf.1_Silent_p.V169V|DMBT1_uc021qag.1_Silent_p.V169V|DMBT1_uc021qah.1_Silent_p.V169V|DMBT1_uc009xzz.1_Silent_p.V169V|DMBT1_uc010qtx.1_Silent_p.V169V|DMBT1_uc009yaa.1_Silent_p.V21V	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	169	SRCR 1.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TGGATGATGTGCGCTGCTCAG	0.587000														79			46		0	0	1	0	0
GTF3C1	2975	broad.mit.edu	37	16	27504543	27504543	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:27504543A>G	uc002dov.2	-	16	2893	c.2853T>C	c.(2851-2853)atT>atC	p.I951I	GTF3C1_uc002dou.3_Silent_p.I951I	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 1, alpha 220kDa (GTF3C1), mRNA.	951						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						GCTGCTGCCGAATGGGCCTGG	0.537000														66			4		0	0	1	0	0
RAPGEF6	51735	broad.mit.edu	37	5	131008547	131008547	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:131008547G>A	uc003kvs.1	-	13	1732	c.1590C>T	c.(1588-1590)gaC>gaT	p.D530D	RAPGEF6_uc003kvp.2_Intron|RAPGEF6_uc003kvt.1_Silent_p.D502D|RAPGEF6_uc010jdm.1_Silent_p.D485D	NM_133372	NP_588613	Q8TEU7	RPGF6_HUMAN	Homo sapiens folliculin interacting protein 1 (FNIP1), transcript variant 1, mRNA.	0	PDZ.				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|Ras GTPase binding|guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		TCTGGACCATGTCTTGTCGTT	0.398000														78			7		0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195515494	195515494	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:195515494G>A	uc021xjp.1	-	1	3113	c.2957C>T	c.(2956-2958)tCc>tTc	p.S986F	MUC4_uc003fvo.3_Intron|MUC4_uc003fvp.3_Intron	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	991	Ser-rich.				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GTGACCTGTGGATGCCGAGGA	0.577000														9			7		0	0	1	0	0
ERGIC1	57222	broad.mit.edu	37	5	172324045	172324045	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:172324045C>T	uc003mbw.4	+	2	317	c.123C>T	c.(121-123)ctC>ctT	p.L41L	ERGIC1_uc003mby.4_5'UTR	NM_001031711	NP_001026881	Q969X5	ERGI1_HUMAN	Homo sapiens endoplasmic reticulum-golgi intermediate compartment (ERGIC) 1 (ERGIC1), mRNA.	41					ER to Golgi vesicle-mediated transport	ER-Golgi intermediate compartment membrane|Golgi membrane|endoplasmic reticulum membrane|integral to membrane	protein binding			endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)	9	Renal(175;0.000159)|Lung NSC(126;0.00344)|all_lung(126;0.00594)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TCCTCTTCCTCTCGGAGCTCA	0.517000														57			9		0	0	1	0	0
FLI1	2313	broad.mit.edu	37	11	128675297	128675297	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:128675297G>A	uc010sbu.2	+	5	1035	c.692G>A	c.(691-693)gGc>gAc	p.G231D	FLI1_uc010sbt.2_Missense_Mutation_p.G38D|FLI1_uc010sbv.2_Missense_Mutation_p.G198D|FLI1_uc009zci.3_Missense_Mutation_p.G165D	NM_002017	NP_001161153	Q01543	FLI1_HUMAN	Homo sapiens Friend leukemia virus integration 1 (FLI1), transcript variant 1, mRNA.	231					hemostasis|organ morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.G231G(1)	EWSR1/FLI1(2569)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)		GGAGCTTGGGGCAATAACATG	0.408000			T	EWSR1	Ewing sarcoma									11			3		0	0	1	0	0
SPTLC1	10558	broad.mit.edu	37	9	94877622	94877622	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:94877622C>A	uc011ltv.1	-	0	69	c.31G>T	c.(31-33)Gtg>Ttg	p.V11L	SPTLC1_uc004arl.1_Missense_Mutation_p.V11L|SPTLC1_uc004arm.1_Missense_Mutation_p.V11L|SPTLC1_uc004arn.1_Missense_Mutation_p.V11L			O15269	SPTC1_HUMAN	Homo sapiens serine palmitoyltransferase, long chain base subunit 1 (SPTLC1), transcript variant 1, mRNA.	11						SPOTS complex|integral to membrane	protein binding|pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			breast(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14					L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	ACCATCTCCACCAGAACCCAC	0.657000														23			12		1.3612e-06	1.54683e-06	1	1	0
SORCS2	57537	broad.mit.edu	37	4	7714488	7714488	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:7714488G>A	uc003gkb.4	+	14	1897	c.1897G>A	c.(1897-1899)Gat>Aat	p.D633N	SORCS2_uc011bwi.2_Missense_Mutation_p.D461N	NM_020777	NP_065828	Q96PQ0	SORC2_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 2 (SORCS2), mRNA.	633						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						CTTCCGCTCCGATTGGGAGCT	0.592000														37			7		0	0	1	0	0
COBLL1	22837	broad.mit.edu	37	2	165561493	165561493	+	Silent	SNP	C	T	T	rs138711091	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:165561493C>T	uc002ucp.3	-	6	1341	c.1119G>A	c.(1117-1119)ccG>ccA	p.P373P	COBLL1_uc002ucq.3_Silent_p.P373P|COBLL1_uc010zcw.2_Silent_p.P439P|COBLL1_uc010zcx.2_Silent_p.P419P|COBLL1_uc002ucs.1_Non-coding_Transcript|COBLL1_uc002uco.3_Silent_p.P142P	NM_014900	NP_055715	Q53SF7	COBL1_HUMAN	Homo sapiens COBL-like 1 (COBLL1), mRNA.	411										central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						CACTTTGATGCGGGGGTATTT	0.423000														145			79		0	0	1	0	0
OGT	8473	broad.mit.edu	37	X	70787571	70787571	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:70787571C>A	uc004eaa.2	+	19	3049	c.2811C>A	c.(2809-2811)ctC>ctA	p.L937L	BCYRN1_uc011mpt.1_Intron|OGT_uc004eab.2_Silent_p.L927L|OGT_uc004eac.3_Silent_p.L798L|OGT_uc004ead.3_Silent_p.L556L	NM_181672	NP_858058	O15294	OGT1_HUMAN	Homo sapiens O-linked N-acetylglucosamine (GlcNAc) transferase (UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase) (OGT), transcript variant 1, mRNA.	937					cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	MLL5-L complex|cytosol	enzyme activator activity|protein N-acetylglucosaminyltransferase activity|protein binding			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					TGGATGTCCTCTGGGCAGGGA	0.517000														20			5		0.184627	0.186034	1	1	0
VPS13D	55187	broad.mit.edu	37	1	12343686	12343686	+	Missense_Mutation	SNP	G	A	A	rs149109225		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:12343686G>A	uc001atv.3	+	20	5668	c.5527G>A	c.(5527-5529)Gca>Aca	p.A1843T	VPS13D_uc001atw.3_Missense_Mutation_p.A1843T|VPS13D_uc001atx.3_Missense_Mutation_p.A1031T	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA.	1843					protein localization			p.H1842Q(1)		NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		AGACAACCACGCAATGAGGCT	0.483000														77			45		0	0	1	0	0
BBS10	79738	broad.mit.edu	37	12	76740150	76740150	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:76740150G>A	uc001syd.1	-	1	1699	c.1615C>T	c.(1615-1617)Cca>Tca	p.P539S		NM_024685	NP_078961	Q8TAM1	BBS10_HUMAN	Homo sapiens Bardet-Biedl syndrome 10 (BBS10), mRNA.	539			P -> L (in dbSNP:rs35676114).		cellular protein metabolic process|nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis	cilium	ATP binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)	19						TTGAGTAATGGTTCATAATAA	0.358000									Bardet-Biedl syndrome					81			34		0	0	1	0	0
AMPD1	270	broad.mit.edu	37	1	115218604	115218604	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:115218604T>G	uc001efe.2	-	10	1556	c.1508A>C	c.(1507-1509)aAt>aCt	p.N503T	AMPD1_uc001eff.2_Missense_Mutation_p.N499T	NM_000036	NP_000027	P23109	AMPD1_HUMAN	Homo sapiens adenosine monophosphate deaminase 1 (AMPD1), transcript variant 1, mRNA.	470					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	TGGAAGGAAATTCTTGGAACG	0.433000														117			7		0	0	1	0	0
PAF1	54623	broad.mit.edu	37	19	39880742	39880742	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:39880742G>T	uc002old.3	-	2	312	c.137C>A	c.(136-138)cCc>cAc	p.P46H	PAF1_uc010xuv.2_Non-coding_Transcript|PAF1_uc002ole.1_Missense_Mutation_p.P36H|MED29_uc002olf.3_5'Flank|MED29_uc010xux.2_5'Flank	NM_019088	NP_061961	Q8N7H5	PAF1_HUMAN	Homo sapiens Paf1, RNA polymerase II associated factor, homolog (S. cerevisiae) (PAF1), mRNA.	46					histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|urinary_tract(2)	17	all_cancers(60;9.14e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			GATGAACTTGGGGTCGAAGGG	0.537000														99			10		0.00621372	0.00645399	1	1	0
ROBO2	6092	broad.mit.edu	37	3	77600102	77600102	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:77600102G>A	uc011bgk.2	+	8	1848	c.1205G>A	c.(1204-1206)gGa>gAa	p.G402E	ROBO2_uc021xat.1_Missense_Mutation_p.G414E|ROBO2_uc003dpy.4_Missense_Mutation_p.G398E|ROBO2_uc003dpz.3_Missense_Mutation_p.G402E|ROBO2_uc011bgj.2_Non-coding_Transcript	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 2 (Drosophila) (ROBO2), transcript variant 2, mRNA.	398	Ig-like C2-type 4.				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		ACTGTGGCAGGAAGCATTTTA	0.413000														37			21		0	0	1	0	0
CAMTA1	23261	broad.mit.edu	37	1	7811353	7811353	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:7811353G>A	uc001aoi.3	+	19	4991	c.4784G>A	c.(4783-4785)cGg>cAg	p.R1595Q	CAMTA1_uc001aok.4_Missense_Mutation_p.R638Q|CAMTA1_uc001aoj.3_Missense_Mutation_p.R558Q|CAMTA1_uc009vmf.3_Missense_Mutation_p.R185Q	NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN	Homo sapiens calmodulin binding transcription activator 1 (CAMTA1), transcript variant 1, mRNA.	1595	IQ 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		CAGAGCCGACGGGCTGCTGTG	0.463000			T	WWTR1	epitheliod hemangioendothelioma									197			17		0	0	1	0	0
C12orf40	283461	broad.mit.edu	37	12	40020150	40020150	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:40020150C>T	uc001rmc.3	+	0	179	c.12C>T	c.(10-12)gtC>gtT	p.V4V	C12orf40_uc009zjv.1_Non-coding_Transcript	NM_001031748	NP_001026918	Q86WS4	CL040_HUMAN	Homo sapiens chromosome 12 open reading frame 40 (C12orf40), mRNA.	4								p.V4V(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						TGAATTGGGTCGGGGGGTCCC	0.542000														7			11		0	0	1	0	0
ARHGAP33	115703	broad.mit.edu	37	19	36272095	36272095	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:36272095C>T	uc002obs.2	+	11	1170	c.1026C>T	c.(1024-1026)caC>caT	p.H342H	ARHGAP33_uc002obr.2_Silent_p.H342H|ARHGAP33_uc002obt.2_Silent_p.H206H|ARHGAP33_uc002obv.1_5'Flank	NM_052948	NP_443180	O14559	RHG33_HUMAN	Homo sapiens Rho GTPase activating protein 33 (ARHGAP33), transcript variant 1, mRNA.	342	Rho-GAP.				cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding	p.H342H(2)		endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						TTGAGGCCCACGGGGTGGTGG	0.647000														49			20		0	0	1	0	0
ZNF860	344787	broad.mit.edu	37	3	32032013	32032013	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:32032013C>A	uc011axg.2	+	1	1991	c.1442C>A	c.(1441-1443)cCt>cAt	p.P481H	ZNF860_uc021wuv.1_Missense_Mutation_p.P481H	NM_001137674	NP_001131146	A6NHJ4	ZN860_HUMAN	Homo sapiens zinc finger protein 860 (ZNF860), mRNA.	481					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|lung(4)|ovary(1)	8						GGAGAGAAACCTTACAAGTGT	0.403000														38			27		9.39395e-14	1.17142e-13	1	1	0
KLHL11	55175	broad.mit.edu	37	17	40010251	40010251	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:40010251A>C	uc002hyf.1	-	1	1874	c.1868T>G	c.(1867-1869)aTt>aGt	p.I623S		NM_018143	NP_060613	Q9NVR0	KLH11_HUMAN	Homo sapiens kelch-like 11 (Drosophila) (KLHL11), mRNA.	623						extracellular region				NS(2)|breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17		Breast(137;0.00156)				CTGTTTATCAATATCATCACT	0.453000														51			35		0	0	1	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84442351	84442351	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:84442351G>A	uc002bjz.4	+	3	490	c.266G>A	c.(265-267)cGg>cAg	p.R89Q	ADAMTSL3_uc002bjy.1_Missense_Mutation_p.R89Q|ADAMTSL3_uc010bmt.1_Missense_Mutation_p.R89Q	NM_207517	NP_997400	P82987	ATL3_HUMAN	Homo sapiens ADAMTS-like 3 (ADAMTSL3), mRNA.	89	TSP type-1 1.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			GACTGCTCCCGGACCTGTGGG	0.507000														29			26		0	0	1	0	0
DAPK1	1612	broad.mit.edu	37	9	90272950	90272950	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:90272950C>T	uc004apc.3	+	17	1969	c.1831C>T	c.(1831-1833)Cga>Tga	p.R611*	DAPK1_uc004apd.3_Nonsense_Mutation_p.R611*|DAPK1_uc011ltg.2_Nonsense_Mutation_p.R611*|DAPK1_uc011lth.2_Nonsense_Mutation_p.R348*|DAPK1_uc004apf.1_Nonsense_Mutation_p.R165*	NM_004938	NP_004929	P53355	DAPK1_HUMAN	Homo sapiens death-associated protein kinase 1 (DAPK1), mRNA.	611					apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						CCAGTATGGGCGAACGCCTCT	0.567000									Chronic Lymphocytic Leukemia, Familial Clustering of					5			9		0	0	1	0	0
KCNJ18	100134444	broad.mit.edu	37	17	21319618	21319618	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:21319618C>A	uc021tss.1	+	2	1334	c.964C>A	c.(964-966)Ctg>Atg	p.L322M	KCNJ18_uc002gyv.1_Missense_Mutation_p.L322M|KCNJ18_uc021tst.1_Missense_Mutation_p.L322M	NM_001194958	NP_001181887	B7U540	IRK18_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 18 (KCNJ18), mRNA.	322						integral to membrane	inward rectifier potassium channel activity	p.L322L(1)									CAATGAGATCCTGTGGGGTCA	0.582000														109			19		5.35267e-07	6.12308e-07	1	1	0
KLB	152831	broad.mit.edu	37	4	39409299	39409299	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:39409299C>A	uc003gua.3	+	0	827	c.730C>A	c.(730-732)Cta>Ata	p.L244I	KLB_uc011byj.2_Missense_Mutation_p.L244I	NM_175737	NP_783864	Q86Z14	KLOTB_HUMAN	Homo sapiens klotho beta (KLB), mRNA.	244	Glycosyl hydrolase-1 1.				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						CAACCCATATCTAGTGGCTTG	0.428000														44			36		2.32173e-10	2.80169e-10	1	1	0
PRDM14	63978	broad.mit.edu	37	8	70964426	70964426	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:70964426G>A	uc003xym.3	-	7	1804	c.1602C>T	c.(1600-1602)agC>agT	p.S534S		NM_024504	NP_078780	Q9GZV8	PRD14_HUMAN	Homo sapiens PR domain containing 14 (PRDM14), mRNA.	534					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			GCCGGACATGGCTGTCATGGG	0.502000														84			46		0	0	1	0	0
ASXL1	171023	broad.mit.edu	37	20	31022979	31022979	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:31022979A>G	uc021wbw.1	+	12	2896	c.2464A>G	c.(2464-2466)Aca>Gca	p.T822A	ASXL1_uc002wxs.3_Missense_Mutation_p.T821A|ASXL1_uc010geb.3_Missense_Mutation_p.T713A	NM_015338	NP_056153	Q8IXJ9	ASXL1_HUMAN	Homo sapiens additional sex combs like 1 (Drosophila) (ASXL1), transcript variant 1, mRNA.	822					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding	p.T822fs*11(2)|p.(574_1542)fs*?(1)|p.T822*(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						GGGAGATGATACATTAGAGAA	0.502000			"""F, N, Mis"""		"""MDS, CMML"""									60			36		0	0	1	0	0
NIPBL	25836	broad.mit.edu	37	5	36976068	36976068	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:36976068G>T	uc003jkl.4	+	8	1558	c.1059G>T	c.(1057-1059)aaG>aaT	p.K353N	NIPBL_uc003jkk.4_Missense_Mutation_p.K353N|NIPBL_uc003jkm.1_Missense_Mutation_p.K232N	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	Homo sapiens Nipped-B homolog (Drosophila) (NIPBL), transcript variant A, mRNA.	353					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			CTCCATCCAAGGACTCTACTA	0.368000														40			20		3.51602e-12	4.32762e-12	1	1	0
TM4SF19	116211	broad.mit.edu	37	3	196051280	196051280	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:196051280G>A	uc010iad.2	-	3	469	c.311C>T	c.(310-312)gCt>gTt	p.A104V	TM4SF19_uc003fwj.3_Non-coding_Transcript|AK124973_uc003fwk.1_3'UTR|TM4SF19_uc003fwl.2_Missense_Mutation_p.A104V|TM4SF19_uc021xjs.1_Missense_Mutation_p.A104V|TM4SF19_uc011btv.2_Missense_Mutation_p.A78V	NM_001204897	NP_001191826	Q96DZ7	T4S19_HUMAN	Homo sapiens transmembrane 4 L six family member 19 (TM4SF19), transcript variant 2, mRNA.	104						integral to membrane				endometrium(2)|kidney(2)|large_intestine(3)|lung(5)	12	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;3.94e-24)|all cancers(36;4.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.53e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00314)		TCCAAGTAAAGCCAGGCCACC	0.517000														25			16		0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105420882	105420882	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:105420882G>A	uc010axc.1	-	6	1026	c.906C>T	c.(904-906)gcC>gcT	p.A302A	AHNAK2_uc021seo.1_5'Flank|AHNAK2_uc001ypx.2_Silent_p.A202A	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	302						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCGTGAGCTGGGCCTCTGTGT	0.652000														12			5		0	0	1	0	0
CREB1	1385	broad.mit.edu	37	2	208440061	208440061	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:208440061C>T	uc002vcc.3	+	6	864	c.613C>T	c.(613-615)Caa>Taa	p.Q205*	CREB1_uc010ziz.1_Nonsense_Mutation_p.Q189*|CREB1_uc002vcd.3_Nonsense_Mutation_p.Q191*|CREB1_uc010zja.1_Non-coding_Transcript	NM_134442	NP_604391	P16220	CREB1_HUMAN	Homo sapiens cAMP responsive element binding protein 1 (CREB1), transcript variant B, mRNA.	205					MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of phospholipase C activity|axon guidance|innate immune response|interspecies interaction between organisms|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|stress-activated MAPK cascade|synaptic transmission|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway		protein dimerization activity|transcription cofactor activity		EWSR1/CREB1(44)	NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|upper_aerodigestive_tract(1)	5				LUSC - Lung squamous cell carcinoma(261;0.0768)|Epithelial(149;0.127)|Lung(261;0.145)	Adenosine monophosphate(DB00131)|Bromocriptine(DB01200)|Naloxone(DB01183)	ACAGGGCCTGCAAACATTAAC	0.473000			T	EWSR1	"""clear cell sarcoma, angiomatoid fibrous histiocytoma"""									86			10		0	0	1	0	0
RALGDS	5900	broad.mit.edu	37	9	135983469	135983469	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:135983469G>T	uc004cco.3	-	5	1123	c.1103C>A	c.(1102-1104)cCt>cAt	p.P368H	RALGDS_uc004ccp.3_Non-coding_Transcript|RALGDS_uc004ccq.3_Missense_Mutation_p.P356H|RALGDS_uc004ccr.3_Missense_Mutation_p.P367H|RALGDS_uc011mcv.2_Missense_Mutation_p.P339H|RALGDS_uc004ccs.3_Missense_Mutation_p.P313H|RALGDS_uc011mcw.2_Missense_Mutation_p.P439H|RALGDS_uc004ccv.1_Missense_Mutation_p.P137H|RALGDS_uc004ccu.1_Missense_Mutation_p.P137H	NM_006266	NP_006257	Q12967	GNDS_HUMAN	Homo sapiens ral guanine nucleotide dissociation stimulator (RALGDS), transcript variant 1, mRNA.	368					Ras protein signal transduction|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		TGCAACCACAGGTGAAGGCCA	0.562000			T	CIITA	"""PMBL, Hodgkin Lymphona, """									38			25		3.6726e-16	4.64609e-16	1	1	0
CHEK2	11200	broad.mit.edu	37	22	29121084	29121084	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:29121084G>A	uc003adu.1	-	3	545	c.473C>T	c.(472-474)gCa>gTa	p.A158V	CHEK2_uc010gvj.1_Intron|CHEK2_uc003adr.1_Non-coding_Transcript|CHEK2_uc010gvk.1_Non-coding_Transcript|CHEK2_uc003ads.1_Intron|CHEK2_uc010gvh.1_Intron|CHEK2_uc010gvi.1_Missense_Mutation_p.A158V|CHEK2_uc003adt.1_Missense_Mutation_p.A201V|CHEK2_uc003adv.1_Missense_Mutation_p.A158V|CHEK2_uc003adx.1_5'UTR	NM_007194	NP_009125	O96017	CHK2_HUMAN	Homo sapiens checkpoint kinase 2 (CHEK2), transcript variant 1, mRNA.	158	FHA.				DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|cell cycle|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						TTCTATGTATGCAATGTAAGA	0.348000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes						71			21		0	0	1	0	0
TRAM1	23471	broad.mit.edu	37	8	71510176	71510176	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:71510176G>A	uc003xyo.2	-	3	640	c.380C>T	c.(379-381)gCg>gTg	p.A127V	TRAM1_uc011lfc.2_Missense_Mutation_p.A96V	NM_014294	NP_055109	Q15629	TRAM1_HUMAN	Homo sapiens translocation associated membrane protein 1 (TRAM1), mRNA.	127	TLC.				cotranslational protein targeting to membrane|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	17			Epithelial(68;0.00679)|all cancers(69;0.0324)|OV - Ovarian serous cystadenocarcinoma(28;0.0509)			AAGGTAGAACGCACTAAGCTG	0.358000														16			16		0	0	1	0	0
PRSS12	8492	broad.mit.edu	37	4	119204261	119204261	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:119204261C>T	uc003ica.2	-	11	2092	c.2045G>A	c.(2044-2046)gGc>gAc	p.G682D		NM_003619	NP_003610	P56730	NETR_HUMAN	Homo sapiens protease, serine, 12 (neurotrypsin, motopsin) (PRSS12), mRNA.	682	Peptidase S1.					membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						AGTGCTGTTGCCATACCTGAG	0.403000														106			6		0	0	1	0	0
FREM2	341640	broad.mit.edu	37	13	39263238	39263238	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:39263238C>T	uc001uwv.3	+	0	2066	c.1757C>T	c.(1756-1758)gCa>gTa	p.A586V		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	Homo sapiens FRAS1 related extracellular matrix protein 2 (FREM2), mRNA.	586					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TCCCTGAGTGCAACTGACATG	0.542000														34			11		0	0	1	0	0
PCDHB15	56121	broad.mit.edu	37	5	140627342	140627342	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140627342T>C	uc003lje.3	+	0	2196	c.2196T>C	c.(2194-2196)ttT>ttC	p.F732F		NM_018935	NP_061758	Q9Y5E8	PCDBF_HUMAN	Homo sapiens protocadherin beta 15 (PCDHB15), mRNA.	732					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGGGCCCCTTTCCAGGGCATC	0.622000														162			12		0	0	1	0	0
OR5D13	390142	broad.mit.edu	37	11	55541189	55541189	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:55541189A>G	uc010ril.2	+	0	276	c.276A>G	c.(274-276)agA>agG	p.R92R		NM_001001967	NP_001001967	Q8NGL4	OR5DD_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 13 (OR5D13), mRNA.	92					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Y91*(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				TGGAATACAGAACCATCTCTT	0.398000														139			21		0	0	1	0	0
LRRN1	57633	broad.mit.edu	37	3	3887498	3887498	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:3887498C>T	uc003bpt.4	+	1	1934	c.1173C>T	c.(1171-1173)ttC>ttT	p.F391F	SUMF1_uc003bps.2_Intron|LRRN1_uc021wsh.1_Silent_p.F391F	NM_020873	NP_065924	Q6UXK5	LRRN1_HUMAN	Homo sapiens leucine rich repeat neuronal 1 (LRRN1), mRNA.	391	LRRCT.					integral to membrane		p.R390S(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		ACATCCGCTTCATGGAGCCCC	0.502000														65			6		0	0	1	0	0
C12orf50	160419	broad.mit.edu	37	12	88379716	88379716	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:88379716G>A	uc001tam.1	-	10	1205	c.1037C>T	c.(1036-1038)gCg>gTg	p.A346V	C12orf50_uc001tan.3_Missense_Mutation_p.A361V	NM_152589	NP_689802	Q8NA57	CL050_HUMAN	Homo sapiens chromosome 12 open reading frame 50 (C12orf50), mRNA.	346										NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						TGCATTCAACGCGACAGTCCT	0.478000														126			10		0	0	1	0	0
PHC2	1912	broad.mit.edu	37	1	33799704	33799704	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:33799704G>A	uc009vuh.1	-	9	2237	c.1748C>T	c.(1747-1749)gCg>gTg	p.A583V	PHC2_uc001bxg.1_Missense_Mutation_p.A582V|PHC2_uc001bxh.1_Missense_Mutation_p.A554V|PHC2_uc001bxe.1_Missense_Mutation_p.A47V|PHC2_uc001bxf.1_Intron|MIR3605_uc021okw.1_5'Flank	NM_198040	NP_932157	Q8IXK0	PHC2_HUMAN	Homo sapiens polyhomeotic homolog 2 (Drosophila) (PHC2), transcript variant 1, mRNA.	582					multicellular organismal development	PcG protein complex	DNA binding|identical protein binding|zinc ion binding			autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				GAAAGGCTCCGCCCCCTCCTG	0.438000														30			25		0	0	1	0	0
TATDN2	9797	broad.mit.edu	37	3	10302299	10302299	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:10302299G>A	uc011atr.2	+	2	1474	c.893G>A	c.(892-894)tGc>tAc	p.C298Y	TATDN2_uc003bvg.2_Missense_Mutation_p.C298Y|TATDN2_uc003bvf.3_Missense_Mutation_p.C298Y|TATDN2_uc011ats.1_Non-coding_Transcript|TATDN2_uc011att.1_Non-coding_Transcript	NM_014760	NP_055575	Q93075	TATD2_HUMAN	Homo sapiens TatD DNase domain containing 2 (TATDN2), mRNA.	298						nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						ATTGACAAATGCTCTCCACCC	0.468000														91			8		0	0	1	0	0
TMEM131	23505	broad.mit.edu	37	2	98409946	98409946	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:98409946G>A	uc002syh.4	-	29	3686	c.3457C>T	c.(3457-3459)Cgg>Tgg	p.R1153W		NM_015348	NP_056163	Q92545	TM131_HUMAN	Homo sapiens transmembrane protein 131 (TMEM131), mRNA.	1153						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						AAGGATAGCCGCCTTCGAAAT	0.453000														13			20		0	0	1	0	0
GTSF1L	149699	broad.mit.edu	37	20	42355251	42355251	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:42355251C>T	uc002xld.3	-	0	392	c.84G>A	c.(82-84)tcG>tcA	p.S28S	GTSF1L_uc002xlc.3_Silent_p.S28S	NM_176791	NP_789761	Q9H1H1	GTSFL_HUMAN	Homo sapiens gametocyte specific factor 1-like (GTSF1L), transcript variant 1, mRNA.	28							metal ion binding			endometrium(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			TTCTCCTGCACGATGCCAGGT	0.498000														92			42		0	0	1	0	0
SUPT6H	6830	broad.mit.edu	37	17	27002475	27002475	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:27002475C>T	uc010crt.3	+	6	787	c.595C>T	c.(595-597)Cgg>Tgg	p.R199W	SUPT6H_uc002hby.3_Missense_Mutation_p.R199W	NM_003170	NP_003161	Q7KZ85	SPT6H_HUMAN	Homo sapiens suppressor of Ty 6 homolog (S. cerevisiae) (SUPT6H), mRNA.	199	Asp/Glu-rich.				chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	RNA binding|hydrolase activity, acting on ester bonds|sequence-specific DNA binding transcription factor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					ACCTAAGTGGCGGAAAAAGCT	0.517000														49			21		0	0	1	0	0
TYK2	7297	broad.mit.edu	37	19	10463181	10463181	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10463181C>A	uc002moc.4	-	22	3625	c.3247G>T	c.(3247-3249)Gat>Tat	p.D1083Y	TYK2_uc010dxe.3_Missense_Mutation_p.D898Y	NM_003331	NP_003322	P29597	TYK2_HUMAN	Homo sapiens tyrosine kinase 2 (TYK2), mRNA.	1083	Protein kinase 2.				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			GACCAGACATCTGACGCATAG	0.647000														57			43		2.64894e-19	3.40751e-19	1	1	0
PCDH12	51294	broad.mit.edu	37	5	141336296	141336296	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:141336296G>T	uc003llx.3	-	0	2332	c.1121C>A	c.(1120-1122)gCt>gAt	p.A374D		NM_016580	NP_057664	Q9NPG4	PCD12_HUMAN	Homo sapiens protocadherin 12 (PCDH12), mRNA.	374	Cadherin 4.				neuron recognition	integral to plasma membrane	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATGACAAGAGCAATAAAACT	0.507000														73			33		3.11337e-16	3.94066e-16	1	1	0
LAMA5	3911	broad.mit.edu	37	20	60887030	60887030	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:60887030G>A	uc002ycq.3	-	69	9648	c.9581C>T	c.(9580-9582)gCg>gTg	p.A3194V	LAMA5_uc021wfw.1_Missense_Mutation_p.A3194V	NM_005560	NP_005551	O15230	LAMA5_HUMAN	Homo sapiens laminin, alpha 5 (LAMA5), mRNA.	3194	Laminin G-like 3.				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)	GGCGAAGCCCGCTTGAGTTTT	0.647000														47			30		0	0	1	0	0
SACS	26278	broad.mit.edu	37	13	23929924	23929924	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:23929924C>T	uc001uon.2	-	7	1416	c.827G>A	c.(826-828)cGc>cAc	p.R276H	SACS_uc001uoo.2_Missense_Mutation_p.R129H|SACS_uc001uop.1_Missense_Mutation_p.R63H|SACS_uc001uoq.1_Missense_Mutation_p.R129H	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA.	276					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|Hsp70 protein binding|chaperone binding|proteasome binding	p.R129H(2)|p.R276H(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AGGTTGTAGGCGAAGAGGGAA	0.413000														37			18		0	0	1	0	0
TUBGCP6	85378	broad.mit.edu	37	22	50656511	50656511	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:50656511T>G	uc003bkb.1	-	23	5716	c.5204A>C	c.(5203-5205)aAc>aCc	p.N1735T	TUBGCP6_uc003bka.1_Missense_Mutation_p.N805T|TUBGCP6_uc010har.1_Missense_Mutation_p.N1727T|TUBGCP6_uc010has.1_Non-coding_Transcript	NM_020461	NP_065194	Q96RT7	GCP6_HUMAN	Homo sapiens tubulin, gamma complex associated protein 6 (TUBGCP6), mRNA.	1735					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		GTGGATGACGTTCATGACGGG	0.706000														47			22		0	0	1	0	0
ISL1	3670	broad.mit.edu	37	5	50680528	50680528	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:50680528G>T	uc003jor.3	+	1	730	c.182G>T	c.(181-183)aGg>aTg	p.R61M		NM_002202	NP_002193	P61371	ISL1_HUMAN	Homo sapiens ISL LIM homeobox 1 (ISL1), mRNA.	61	LIM zinc-binding 1.				generation of precursor metabolites and energy|multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(11)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		Lung NSC(810;0.000845)|Breast(144;0.0411)				TGCTTTGTTAGGGATGGGAAA	0.403000														107			62		9.65139e-37	1.28022e-36	1	1	0
DCUN1D2	55208	broad.mit.edu	37	13	114135036	114135036	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:114135036A>G	uc001vtr.1	-	2	282	c.243T>C	c.(241-243)atT>atC	p.I81I	DCUN1D2_uc001vts.1_Non-coding_Transcript|DCUN1D2_uc010agw.1_Intron	NM_001014283	NP_001014305	Q6PH85	DCNL2_HUMAN	Homo sapiens DCN1, defective in cullin neddylation 1, domain containing 2 (S. cerevisiae) (DCUN1D2), mRNA.	81	DCUN1.									breast(1)|endometrium(1)|large_intestine(1)|lung(3)|stomach(1)	7	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.029)|GBM - Glioblastoma multiforme(44;0.234)			CATCGACTCCAATTTTGTTTT	0.393000														80			9		0	0	1	0	0
TMEM2	23670	broad.mit.edu	37	9	74345048	74345048	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:74345048G>A	uc011lsa.1	-	8	2435	c.1895C>T	c.(1894-1896)cCc>cTc	p.P632L	TMEM2_uc010mos.2_Missense_Mutation_p.P569L|TMEM2_uc011lsb.1_Non-coding_Transcript	NM_013390	NP_037522	Q9UHN6	TMEM2_HUMAN	Homo sapiens transmembrane protein 2 (TMEM2), transcript variant 1, mRNA.	632						integral to membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		CCTATCGGTGGGCAGGAGAGT	0.458000														58			21		0	0	1	0	0
PARP16	54956	broad.mit.edu	37	15	65558947	65558947	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:65558947T>G	uc002aoq.3	-	2	726	c.472A>C	c.(472-474)Aac>Cac	p.N158H	PARP16_uc002aoo.3_Missense_Mutation_p.N158H|PARP16_uc002aop.3_Intron	NM_017851	NP_060321	Q8N5Y8	PAR16_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 16 (PARP16), mRNA.	158	PARP catalytic.					integral to membrane	NAD+ ADP-ribosyltransferase activity			kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	9						GAATGGAAGTTTTCTAGGCGG	0.493000														45			23		0	0	1	0	0
SLC2A12	154091	broad.mit.edu	37	6	134350230	134350230	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:134350230C>A	uc003qem.1	-	1	904	c.733G>T	c.(733-735)Gat>Tat	p.D245Y		NM_145176	NP_660159	Q8TD20	GTR12_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 12 (SLC2A12), mRNA.	245						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity			NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	17	Breast(56;0.214)|Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123)		TCAGTTGTATCTGAGAGTGCT	0.443000														56			25		1.16021e-09	1.38643e-09	1	1	0
ZMYND10	51364	broad.mit.edu	37	3	50379074	50379074	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:50379074C>T	uc003dag.1	-	10	1324	c.1178G>A	c.(1177-1179)cGc>cAc	p.R393H	RASSF1_uc003dad.1_5'Flank|RASSF1_uc003dae.1_5'Flank|RASSF1_uc003daf.1_5'Flank|RASSF1_uc010hlk.1_5'Flank|RASSF1_uc011bdq.1_5'Flank|ZMYND10_uc010hll.1_Missense_Mutation_p.R388H	NM_015896	NP_056980	O75800	ZMY10_HUMAN	Homo sapiens zinc finger, MYND-type containing 10 (ZMYND10), mRNA.	393						cytoplasm	protein binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|urinary_tract(2)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		GTAAGCACAGCGGGGCCGCTC	0.587000										TSP Lung(30;0.18)				26			15		0	0	1	0	0
FBXW7	55294	broad.mit.edu	37	4	153244280	153244280	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:153244280G>T	uc003ims.3	-	11	2039	c.1877C>A	c.(1876-1878)gCt>gAt	p.A626D	FBXW7_uc011cii.2_Missense_Mutation_p.A626D|FBXW7_uc003imt.3_Missense_Mutation_p.A626D|FBXW7_uc011cih.2_Missense_Mutation_p.A450D|FBXW7_uc003imq.3_Missense_Mutation_p.A546D|FBXW7_uc003imr.3_Missense_Mutation_p.A508D	NM_033632	NP_361014	Q969H0	FBXW7_HUMAN	Homo sapiens F-box and WD repeat domain containing 7 (FBXW7), transcript variant 1, mRNA.	626					SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of Notch signaling pathway|negative regulation of hepatocyte proliferation|negative regulation of triglyceride biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of epidermal growth factor receptor activity|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|sister chromatid cohesion|vasculature development	SCF ubiquitin ligase complex|nucleolus|nucleoplasm	protein binding	p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				ACAGGTCACAGCACTCTGATG	0.348000			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""									33			10		4.68919e-08	5.46558e-08	1	1	0
LHX4	89884	broad.mit.edu	37	1	180217458	180217458	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:180217458G>A	uc001goe.2	+	1	347	c.115G>A	c.(115-117)Gac>Aac	p.D39N		NM_033343	NP_203129	Q969G2	LHX4_HUMAN	Homo sapiens LIM homeobox 4 (LHX4), mRNA.	39	LIM zinc-binding 1.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)	16						GCACATCCTGGACAAGTTCAT	0.597000														19			16		0	0	1	0	0
ADAM33	80332	broad.mit.edu	37	20	3660180	3660180	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:3660180G>T	uc002wit.3	-	1	223	c.136C>A	c.(136-138)Ctg>Atg	p.L46M	ADAM33_uc002wir.1_Missense_Mutation_p.L46M|ADAM33_uc002wiu.3_Missense_Mutation_p.L46M|ADAM33_uc002wiw.1_Non-coding_Transcript|ADAM33_uc010gba.1_Missense_Mutation_p.L46M|ADAM33_uc010gbb.1_Missense_Mutation_p.L46M|ADAM33_uc002wix.1_Missense_Mutation_p.L46M|ADAM33_uc010zqg.1_Missense_Mutation_p.L46M|ADAM33_uc010zqh.1_Missense_Mutation_p.L46M|ADAM33_uc002wiy.3_Missense_Mutation_p.L46M	NM_025220	NP_079496	Q9BZ11	ADA33_HUMAN	Homo sapiens ADAM metallopeptidase domain 33 (ADAM33), transcript variant 1, mRNA.	46					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3)	29						TGTCCATCCAGGACCCAGTGC	0.637000														8			6		0.000442599	0.000473562	1	1	0
SH3D19	152503	broad.mit.edu	37	4	152048841	152048841	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:152048841C>T	uc010ipl.1	-	19	3275	c.2185G>A	c.(2185-2187)Gta>Ata	p.V729I	SH3D19_uc003imb.2_Missense_Mutation_p.V484I|SH3D19_uc003imc.2_Missense_Mutation_p.V670I|SH3D19_uc003ime.2_Missense_Mutation_p.V706I|SH3D19_uc010ipm.2_Missense_Mutation_p.V706I	NM_001009555	NP_001009555	Q5HYK7	SH319_HUMAN	Homo sapiens SH3 domain containing 19 (SH3D19), transcript variant 1, mRNA.	729					cellular membrane organization|positive regulation of membrane protein ectodomain proteolysis|post-Golgi vesicle-mediated transport	Golgi apparatus|cytosol|nucleus|plasma membrane	proline-rich region binding			autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1)	20	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				CCCTTCGGTACTATGGCCAAC	0.358000														17			17		0	0	1	0	0
CHST3	9469	broad.mit.edu	37	10	73767297	73767297	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:73767297C>T	uc001jsn.3	+	2	948	c.508C>T	c.(508-510)Cgc>Tgc	p.R170C	ANAPC16_uc021psn.1_Intron	NM_004273	NP_004264	Q7LGC8	CHST3_HUMAN	Homo sapiens carbohydrate (chondroitin 6) sulfotransferase 3 (CHST3), mRNA.	170					chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 6-sulfotransferase activity	p.R170C(2)		endometrium(1)|lung(5)	6						GCACATCGAGCGCACAGTGTC	0.657000														10			7		0	0	1	0	0
CRBN	51185	broad.mit.edu	37	3	3214594	3214594	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:3214594C>A	uc003bpq.3	-	3	423	c.393G>T	c.(391-393)agG>agT	p.R131S	CRBN_uc003bpr.3_Missense_Mutation_p.R130S|CRBN_uc011aso.2_Missense_Mutation_p.R68S	NM_016302	NP_057386	Q96SW2	CRBN_HUMAN	Homo sapiens cereblon (CRBN), transcript variant 1, mRNA.	131	Lon.				proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination	Cul4A-RING ubiquitin ligase complex|cytoplasm|membrane|nucleus	ATP-dependent peptidase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	11				Epithelial(13;0.00244)|OV - Ovarian serous cystadenocarcinoma(96;0.00617)|all cancers(10;0.0079)		ACTGTGCTTCCCTTTCCTGTA	0.338000														86			33		1.62565e-12	2.00707e-12	1	1	0
SLC14A2	8170	broad.mit.edu	37	18	43253759	43253759	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:43253759C>T	uc002lbe.3	+	17	3305	c.2489C>T	c.(2488-2490)aCg>aTg	p.T830M	SLC14A2_uc010dnj.3_Missense_Mutation_p.T830M	NM_007163	NP_009094	Q15849	UT2_HUMAN	Homo sapiens solute carrier family 14 (urea transporter), member 2 (SLC14A2), transcript variant 1, mRNA.	830						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ACCTGGCAGACGCACCTCCTC	0.478000														32			23		0	0	1	0	0
CBLL1	79872	broad.mit.edu	37	7	107395924	107395924	+	Missense_Mutation	SNP	A	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:107395924A>T	uc003veq.3	+	4	758	c.428A>T	c.(427-429)aAg>aTg	p.K143M	CBLL1_uc011kme.2_Missense_Mutation_p.K22M|CBLL1_uc011kmf.2_Missense_Mutation_p.K142M	NM_024814	NP_079090	Q75N03	HAKAI_HUMAN	Homo sapiens Cas-Br-M (murine) ecotropic retroviral transforming sequence-like 1 (CBLL1), transcript variant 1, mRNA.	143					cell-cell adhesion|negative regulation of cell adhesion|positive regulation of cell migration|positive regulation of endocytosis		protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(3)	21						AAGGGAGATAAGATGTGTCCA	0.299000														126			7		0	0	1	0	0
CEP164	22897	broad.mit.edu	37	11	117280645	117280645	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:117280645G>A	uc001prc.3	+	29	4207	c.4060G>A	c.(4060-4062)Gac>Aac	p.D1354N	CEP164_uc001prb.3_Missense_Mutation_p.D1349N|CEP164_uc001prf.3_Non-coding_Transcript|CEP164_uc009yzp.1_Non-coding_Transcript|CEP164_uc001prg.1_Missense_Mutation_p.D779N	NM_014956	NP_055771	Q9UPV0	CE164_HUMAN	Homo sapiens centrosomal protein 164kDa (CEP164), mRNA.	1354					DNA repair|G2/M transition of mitotic cell cycle|cell division|mitosis	centriole|cytosol|nucleus				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		AACGGTGGACGACTTCCTGTT	0.587000														71			37		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179403356	179403356	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179403356G>T	uc021vsy.1	-	302	91721	c.91496C>A	c.(91495-91497)aCt>aAt	p.T30499N	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.T24194N|TTN_uc021vta.1_Missense_Mutation_p.T24127N|TTN_uc021vtb.1_Missense_Mutation_p.T24002N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	31426	Fibronectin type-III 122.						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)			TTCATACTCAGTAGCTTCCAG	0.433000														85			60		1.19403e-26	1.56656e-26	1	1	0
LAMP3	27074	broad.mit.edu	37	3	182871577	182871577	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:182871577G>A	uc003flh.4	-	1	876	c.652C>T	c.(652-654)Cct>Tct	p.P218S		NM_014398	NP_055213	Q9UQV4	LAMP3_HUMAN	Homo sapiens lysosomal-associated membrane protein 3 (LAMP3), mRNA.	218					cell proliferation	integral to membrane|lysosomal membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(2)	28	all_cancers(143;9.14e-14)|Ovarian(172;0.0355)		all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21)			GATGGCTGAGGTGCAAGGGTG	0.542000														36			28		0	0	1	0	0
TMX4	56255	broad.mit.edu	37	20	7980487	7980487	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:7980487C>T	uc002wmx.1	-	3	492	c.359G>A	c.(358-360)cGc>cAc	p.R120H		NM_021156	NP_066979	Q9H1E5	TMX4_HUMAN	Homo sapiens thioredoxin-related transmembrane protein 4 (TMX4), mRNA.	120	Thioredoxin.				cell redox homeostasis|electron transport chain|transport	integral to membrane				endometrium(3)|large_intestine(2)|lung(11)|skin(1)	17						ACGATAACGGCGGAATATCCC	0.388000														40			20		0	0	1	0	0
ODZ1	10178	broad.mit.edu	37	X	124097529	124097529	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:124097529C>T	uc010nqy.3	-	0	138	c.74G>A	c.(73-75)aGt>aAt	p.S25N	ODZ1_uc011muj.2_Missense_Mutation_p.S25N|ODZ1_uc004euj.3_Missense_Mutation_p.S25N	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	25	Teneurin N-terminal.				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding	p.T24T(1)		NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	212						ATCAGAAGAACTGGTGTAAGC	0.443000														175			122		0	0	1	0	0
PDE1C	5137	broad.mit.edu	37	7	31877483	31877483	+	Splice_Site	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:31877483C>T	uc003tcm.2	-	10	1543	c.1082_splice	c.e10+1	p.A361_splice	PDE1C_uc003tcn.1_Splice_Site_p.A361_splice|PDE1C_uc003tco.2_Splice_Site_p.A421_splice|PDE1C_uc003tcr.3_Splice_Site_p.A361_splice|PDE1C_uc003tcs.3_Splice_Site_p.A361_splice	NM_001191057	NP_001177988	Q14123	PDE1C_HUMAN	Homo sapiens phosphodiesterase 1C, calmodulin-dependent 70kDa (PDE1C), transcript variant 2, mRNA.	361	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			AGCACACTTACGCTTCTGGCT	0.423000														147			54		0	0	1	0	0
TMEM246	84302	broad.mit.edu	37	9	104238211	104238211	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:104238211G>A	uc004bbm.3	-	1	1486	c.1164C>T	c.(1162-1164)atC>atT	p.I388I	AK094413_uc004bbl.1_5'Flank|TMEM246_uc022blf.1_Silent_p.I388I	NM_032342	NP_115718	Q9BRR3	CI125_HUMAN	Homo sapiens chromosome 9 open reading frame 125 (C9orf125), mRNA.	388						integral to membrane											AGAAGAGCCCGATGTGTTTCA	0.522000														52			4		0	0	1	0	0
SUPT16H	11198	broad.mit.edu	37	14	21830380	21830380	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:21830380G>T	uc001wao.2	-	14	2108	c.1769C>A	c.(1768-1770)cCt>cAt	p.P590H		NM_007192	NP_009123	Q9Y5B9	SP16H_HUMAN	Homo sapiens suppressor of Ty 16 homolog (S. cerevisiae) (SUPT16H), mRNA.	590					DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		AGTCGCTTCAGGGTTAGGAAA	0.433000														30			3		0.115264	0.116841	1	1	0
ATP10A	57194	broad.mit.edu	37	15	25967018	25967018	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:25967018A>G	uc010ayu.3	-	6	1255	c.1149T>C	c.(1147-1149)atT>atC	p.I383I		NM_024490	NP_077816	O60312	AT10A_HUMAN	Homo sapiens ATPase, class V, type 10A (ATP10A), mRNA.	383					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		ATGCTTTAACAATTTCAATGG	0.468000														31			22		0	0	1	0	0
NHLRC3	387921	broad.mit.edu	37	13	39622004	39622004	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:39622004G>A	uc001uxc.3	+	6	1307	c.985G>A	c.(985-987)Gca>Aca	p.A329T	NHLRC3_uc001uxd.3_Missense_Mutation_p.A262T|NHLRC3_uc001uxe.3_Missense_Mutation_p.A132T	NM_001012754	NP_001012772	Q5JS37	NHLC3_HUMAN	Homo sapiens NHL repeat containing 3 (NHLRC3), transcript variant 1, mRNA.	329						extracellular region				breast(1)|kidney(1)|large_intestine(3)|lung(4)|skin(2)	11		Lung NSC(96;6.01e-07)|Breast(139;0.00394)|Prostate(109;0.00676)|Lung SC(185;0.0548)|Hepatocellular(188;0.114)		all cancers(112;2.37e-08)|Epithelial(112;3.14e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00101)|BRCA - Breast invasive adenocarcinoma(63;0.00335)|GBM - Glioblastoma multiforme(144;0.0128)		AGAAATTGGAGCAAAACAAGT	0.393000														59			4		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140725798	140725798	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140725798C>T	uc003ljm.2	+	0	2198	c.2198C>T	c.(2197-2199)gCg>gTg	p.A733V	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc011dap.2_Missense_Mutation_p.A733V	NM_018916	NP_061739	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 3 (PCDHGA3), transcript variant 1, mRNA.	734					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)			GGCGGCTTGGCGAGTACGCCC	0.672000														42			20		0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238253054	238253054	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:238253054G>A	uc002vwl.2	-	35	7892	c.7607C>T	c.(7606-7608)gCg>gTg	p.A2536V	COL6A3_uc002vwo.2_Missense_Mutation_p.A2330V|COL6A3_uc010znj.1_Missense_Mutation_p.A1929V|COL6A3_uc002vwj.2_5'Flank|COL6A3_uc002vwp.1_Missense_Mutation_p.A357V	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	2536	Nonhelical region.|VWFA 11.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GGTGATCCCCGCATCTGAGAG	0.537000														182			17		0	0	1	0	0
CTGF	1490	broad.mit.edu	37	6	132270531	132270531	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:132270531G>T	uc003qcz.3	-	4	1129	c.923C>A	c.(922-924)cCt>cAt	p.P308H		NM_001901	NP_001892	P29279	CTGF_HUMAN	Homo sapiens connective tissue growth factor (CTGF), mRNA.	308	CTCK.|Heparin-binding.				DNA replication|cellular lipid metabolic process|epidermis development|regulation of cell growth|response to wounding	plasma membrane|proteinaceous extracellular matrix	heparin binding|insulin-like growth factor binding	p.C307C(1)		breast(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	13	Breast(56;0.0602)			GBM - Glioblastoma multiforme(226;0.015)|OV - Ovarian serous cystadenocarcinoma(155;0.0169)		CTCGCCGTCAGGGCACTTGAA	0.522000														117			14		4.36969e-10	5.24943e-10	1	1	0
SUV39H1	6839	broad.mit.edu	37	X	48559102	48559102	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:48559102G>T	uc004dkn.3	+	2	831	c.786G>T	c.(784-786)gaG>gaT	p.E262D	SUV39H1_uc011mmf.2_Missense_Mutation_p.E273D|SUV39H1_uc011mmg.2_Non-coding_Transcript	NM_003173	NP_003164	O43463	SUV91_HUMAN	Homo sapiens suppressor of variegation 3-9 homolog 1 (Drosophila) (SUV39H1), mRNA.	262	Mediates interaction with MECOM (By similarity).|SET.				cell cycle|cell differentiation|chromatin silencing at rDNA|interspecies interaction between organisms|rRNA processing|transcription, DNA-dependent	chromatin silencing complex|chromosome, centromeric region|condensed nuclear chromosome|rDNA heterochromatin	chromatin binding|histone methyltransferase activity (H3-K9 specific)|protein N-terminus binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14						GCACCCTGGAGAAGATTCGCA	0.572000														24			4		0.150653	0.152248	1	1	0
ANK2	287	broad.mit.edu	37	4	114274547	114274547	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:114274547A>G	uc003ibe.4	+	37	4873	c.4773A>G	c.(4771-4773)gaA>gaG	p.E1591E	ANK2_uc003ibd.4_Intron|ANK2_uc003ibf.4_Intron|ANK2_uc011cgc.2_Intron|ANK2_uc003ibg.4_Intron|ANK2_uc003ibh.4_Intron|ANK2_uc011cgb.1_Silent_p.E1606E	NM_001148	NP_001139	Q01484	ANK2_HUMAN	Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.	1558					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TTGAAGAGGAATGGGTTATTG	0.403000														35			19		0	0	1	0	0
AGRN	375790	broad.mit.edu	37	1	986164	986164	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:986164C>T	uc001ack.2	+	29	5250	c.5200C>T	c.(5200-5202)Cgc>Tgc	p.R1734C		NM_198576	NP_940978	O00468	AGRIN_HUMAN	Homo sapiens agrin (AGRN), mRNA.	1734	Laminin G-like 2.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton	p.R1734C(2)		breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		GCGAAACGGCCGCAAGGGTGC	0.706000														6			4		0	0	1	0	0
HIVEP2	3097	broad.mit.edu	37	6	143074858	143074858	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:143074858C>T	uc003qjd.3	-	9	7470	c.6727G>A	c.(6727-6729)Gcc>Acc	p.A2243T		NM_006734	NP_006725	P31629	ZEP2_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 2 (HIVEP2), mRNA.	2243					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		CTGGAAAGGGCTGGCGGCATG	0.567000														45			15		0	0	1	0	0
WRN	7486	broad.mit.edu	37	8	30973987	30973987	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:30973987C>T	uc003xio.4	+	19	3179	c.2391C>T	c.(2389-2391)ggC>ggT	p.G797G	WRN_uc010lvk.3_Silent_p.G264G	NM_000553	NP_000544	Q14191	WRN_HUMAN	Homo sapiens Werner syndrome, RecQ helicase-like (WRN), mRNA.	797	Helicase C-terminal.				DNA recombination|DNA synthesis involved in DNA repair|base-excision repair|cellular response to starvation|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to UV-C|response to oxidative stress|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|G-quadruplex DNA binding|Y-form DNA binding|bubble DNA binding|four-way junction helicase activity|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		ACCATGCGGGCATGAGTTTTA	0.398000			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome					68			39		0	0	1	0	0
ACCSL	390110	broad.mit.edu	37	11	44080142	44080142	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:44080142G>A	uc001mxw.1	+	12	1573	c.1517G>A	c.(1516-1518)cGc>cAc	p.R506H	ACCSL_uc009ykr.2_Missense_Mutation_p.R325H	NM_001031854	NP_001027025	Q4AC99	1A1L2_HUMAN	Homo sapiens 1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like (ACCSL), mRNA.	506							1-aminocyclopropane-1-carboxylate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2)	34						CTCTATTGCCGCTTCCTGGAC	0.542000														83			45		0	0	1	0	0
POLA1	5422	broad.mit.edu	37	X	24859935	24859935	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:24859935C>A	uc004dbl.3	+	32	3900	c.3885C>A	c.(3883-3885)gtC>gtA	p.V1295V		NM_016937	NP_058633	P09884	DPOLA_HUMAN	Homo sapiens polymerase (DNA directed), alpha 1, catalytic subunit (POLA1), mRNA.	1295					DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell proliferation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|regulation of transcription involved in G1/S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm	DNA-directed DNA polymerase activity|chromatin binding|metal ion binding|nucleoside binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11					Clofarabine(DB00631)|Fludarabine(DB01073)	ATGATAATGTCTTTGATGGTT	0.423000														96			13		0.0135373	0.0139797	1	1	0
GAA	2548	broad.mit.edu	37	17	78078631	78078631	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:78078631C>T	uc002jxp.3	+	1	613	c.246C>T	c.(244-246)tgC>tgT	p.C82C	GAA_uc002jxo.3_Silent_p.C82C|GAA_uc002jxq.3_Silent_p.C82C	NM_000152	NP_001073272	P10253	LYAG_HUMAN	Homo sapiens glucosidase, alpha; acid (GAA), transcript variant 1, mRNA.	82	P-type.				cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)	CCACACAGTGCGACGTCCCCC	0.677000														9			6		0	0	1	0	0
TSHZ1	10194	broad.mit.edu	37	18	72999467	72999467	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:72999467C>T	uc002lly.3	+	1	2533	c.1970C>T	c.(1969-1971)gCc>gTc	p.A657V	TSHZ1_uc021uln.1_Missense_Mutation_p.A657V	NM_005786	NP_005777	Q6ZSZ6	TSH1_HUMAN	Homo sapiens teashirt zinc finger homeobox 1 (TSHZ1), mRNA.	702						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		ACTGGGAAGGCCAAAAAGGAG	0.547000														29			8		0	0	1	0	0
CYP2B7P1	1556	broad.mit.edu	37	19	41430189	41430189	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:41430189C>T	uc010ehg.1	+	0	20	c.12C>T	c.(10-12)agC>agT	p.S4S	CYP2A7_uc002opo.3_Intron|CYP2B7P1_uc010ehh.1_Silent_p.S4S|CYP2B7P1_uc002opq.3_Non-coding_Transcript					Homo sapiens cytochrome P450, family 2, subfamily B, polypeptide 7 pseudogene 1 (CYP2B7P1), non-coding RNA.											NS(1)|endometrium(6)|kidney(1)|lung(2)|ovary(1)|skin(1)	12						TGGAGCTCAGCGTCCTCCTCT	0.587000														28			16		0	0	1	0	0
CP	1356	broad.mit.edu	37	3	148928055	148928055	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:148928055T>C	uc003ewy.4	-	2	759	c.506A>G	c.(505-507)gAa>gGa	p.E169G	CP_uc011bnr.2_Non-coding_Transcript|CP_uc003ewx.4_5'Flank|CP_uc003ewz.3_Missense_Mutation_p.E169G|CP_uc010hvf.1_5'Flank	NM_000096	NP_000087	P00450	CERU_HUMAN	Homo sapiens ceruloplasmin (ferroxidase) (CP), mRNA.	169	F5/8 type A 1.|Plastocyanin-like 1.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity	p.G168V(1)		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)	GCCATCTCCTTCCCCAGGACT	0.408000														98			12		0	0	1	0	0
HVCN1	84329	broad.mit.edu	37	12	111099218	111099218	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:111099218C>A	uc001trs.1	-	3	222	c.57G>T	c.(55-57)gaG>gaT	p.E19D	HVCN1_uc001trq.1_Missense_Mutation_p.E19D|HVCN1_uc001trt.1_Missense_Mutation_p.E19D|HVCN1_uc010syd.1_5'UTR	NM_032369	NP_115745	Q96D96	HVCN1_HUMAN	Homo sapiens hydrogen voltage-gated channel 1 (HVCN1), transcript variant 2, mRNA.	19					response to pH|response to zinc ion	integral to membrane	voltage-gated proton channel activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	19						TGCTCATCCTCTCAGCGGGAG	0.577000														35			4		0.014758	0.0151755	1	1	0
POU5F2	134187	broad.mit.edu	37	5	93076630	93076630	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:93076630G>A	uc003kkl.1	-	0	680	c.640C>T	c.(640-642)Cgg>Tgg	p.R214W	FAM172A_uc010jbd.3_Intron|FAM172A_uc011cuf.2_Intron|FAM172A_uc011cug.2_Intron|FAM172A_uc011cuh.2_Intron|FAM172A_uc011cui.2_Intron|FAM172A_uc011cuj.2_Intron	NM_153216	NP_694948	Q8N7G0	PO5F2_HUMAN	Homo sapiens POU domain class 5, transcription factor 2 (POU5F2), mRNA.	214						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity						all_cancers(142;3.87e-05)|all_epithelial(76;4.59e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0415)|all cancers(79;2.03e-19)		CTGCTTGCCCGTCTCCACTTC	0.542000														40			23		0	0	1	0	0
STARD13	90627	broad.mit.edu	37	13	33684069	33684069	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:33684069G>T	uc001uuw.3	-	11	3114	c.2988C>A	c.(2986-2988)atC>atA	p.I996I	STARD13_uc001uuu.3_Silent_p.I988I|STARD13_uc001uuv.3_Silent_p.I878I|STARD13_uc001uux.3_Silent_p.I961I	NM_178006	NP_443083	Q9Y3M8	STA13_HUMAN	Homo sapiens StAR-related lipid transfer (START) domain containing 13 (STARD13), transcript variant 1, mRNA.	996	START.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		CATACTGGTAGATCTCTGTTT	0.527000											OREG0022359	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		70			6		3.59834e-05	3.95114e-05	1	1	0
CERS4	79603	broad.mit.edu	37	19	8320711	8320711	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:8320711G>A	uc002mjg.3	+	5	736	c.416G>A	c.(415-417)aGg>aAg	p.R139K	CERS4_uc002mji.3_5'UTR|CERS4_uc010dvz.3_Missense_Mutation_p.R139K	NM_024552	NP_078828	Q9HA82	CERS4_HUMAN	Homo sapiens ceramide synthase 4 (CERS4), mRNA.	139	TLC.					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity										CACAGCTGGAGGTTTCTCTTC	0.622000														24			10		0	0	1	0	0
IGHG1	3500	broad.mit.edu	37	14	106207926	106207926	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:106207926G>A	uc001yse.3	-	4	921	c.475C>T	c.(475-477)Ctc>Ttc	p.L159F	abParts_uc021ser.1_Non-coding_Transcript|DKFZp686O16217_uc001yrs.3_Intron|DKFZp686O16217_uc001yrt.3_Intron|IGHE_uc001yrw.1_Intron|IGHE_uc001yrx.2_Intron|IGHE_uc001yrz.2_Intron					RecName: Full=Ig gamma-1 chain C region;																		TCCACGGTGAGCTTGCTGTAG	0.592000														109			37		0	0	1	0	0
CKAP2L	150468	broad.mit.edu	37	2	113496489	113496489	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:113496489G>T	uc002tie.2	-	8	2228	c.2149C>A	c.(2149-2151)Ctg>Atg	p.L717M	CKAP2L_uc002tif.2_Missense_Mutation_p.L306M|CKAP2L_uc010yxp.1_Missense_Mutation_p.L552M|NT5DC4_uc002tid.3_Intron	NM_152515	NP_689728	Q8IYA6	CKP2L_HUMAN	Homo sapiens cytoskeleton associated protein 2-like (CKAP2L), mRNA.	717						centrosome		p.E716K(1)		breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						ACTTCTAACAGTTCATCAAGA	0.448000														89			53		2.0833e-19	2.68149e-19	1	1	0
AP1G2	8906	broad.mit.edu	37	14	24034396	24034396	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:24034396G>A	uc001wkl.2	-	7	1091	c.754C>T	c.(754-756)Cgt>Tgt	p.R252C	AP1G2_uc001wkk.3_Missense_Mutation_p.R180C|AP1G2_uc001wkn.2_5'UTR|AX747770_uc001wko.1_Intron|AP1G2_uc001wkp.1_5'Flank|AP1G2_uc010tnp.1_Missense_Mutation_p.R252C|AP1G2_uc010aks.3_3'UTR|AP1G2_uc010akt.3_3'UTR|AP1G2_uc010tnq.1_Non-coding_Transcript	NM_003917	NP_003908	O75843	AP1G2_HUMAN	Homo sapiens adaptor-related protein complex 1, gamma 2 subunit (AP1G2), mRNA.	252					interspecies interaction between organisms|intracellular protein transport|vesicle-mediated transport	AP-1 adaptor complex|endosome membrane	protein binding|protein transporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	28	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00672)		CGAAGCAGACGAAGTATCTGG	0.557000														21			8		0	0	1	0	0
TRAFD1	10906	broad.mit.edu	37	12	112579001	112579001	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:112579001G>A	uc001ttp.3	+	4	702	c.616G>A	c.(616-618)Gcc>Acc	p.A206T	TRAFD1_uc001tto.3_Missense_Mutation_p.A206T|TRAFD1_uc009zwb.2_Missense_Mutation_p.A206T|TRAFD1_uc010syj.1_Intron	NM_006700	NP_006691	O14545	TRAD1_HUMAN	Homo sapiens TRAF-type zinc finger domain containing 1 (TRAFD1), transcript variant 2, mRNA.	206					negative regulation of innate immune response	intracellular	protein binding|zinc ion binding			kidney(5)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	17						GAACATTACAGCCCAGGTTTC	0.483000														35			28		0	0	1	0	0
PLD1	5337	broad.mit.edu	37	3	171417543	171417543	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:171417543G>A	uc003fhs.3	-	11	1566	c.1219C>T	c.(1219-1221)Cga>Tga	p.R407*	PLD1_uc003fht.3_Nonsense_Mutation_p.R407*	NM_002662	NP_002653	Q13393	PLD1_HUMAN	Homo sapiens phospholipase D1, phosphatidylcholine-specific (PLD1), transcript variant 1, mRNA.	407					Ras protein signal transduction|cell communication|chemotaxis	Golgi membrane|endoplasmic reticulum membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	ACTGCTTTTCGTTTAAGAATG	0.383000														208			151		0	0	1	0	0
PIK3R6	146850	broad.mit.edu	37	17	8736358	8736358	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:8736358C>T	uc002glq.1	-	8	890	c.650G>A	c.(649-651)aGc>aAc	p.S217N	PIK3R6_uc002glr.1_Non-coding_Transcript|PIK3R6_uc002gls.1_Intron	NM_001010855	NP_001010855	Q5UE93	PI3R6_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 6 (PIK3R6), mRNA.	217					platelet activation	cytosol											GCGGCGAGGGCTGGCCTGTTG	0.701000														8			4		0	0	1	0	0
LYST	1130	broad.mit.edu	37	1	235929518	235929518	+	Silent	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:235929518T>C	uc001hxj.2	-	20	6157	c.5982A>G	c.(5980-5982)aaA>aaG	p.K1994K	LYST_uc009xgb.1_Intron|LYST_uc010pxs.1_Non-coding_Transcript	NM_000081	NP_000072	Q99698	LYST_HUMAN	Homo sapiens lysosomal trafficking regulator (LYST), mRNA.	1994					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			CTGCTATAATTTTCACAAATG	0.353000														159			150		0	0	1	0	0
SECISBP2	79048	broad.mit.edu	37	9	91964707	91964707	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:91964707C>T	uc004aqj.1	+	12	1835	c.1755C>T	c.(1753-1755)gaC>gaT	p.D585D	SECISBP2_uc010mqo.1_Silent_p.D290D|SECISBP2_uc004aqk.1_Silent_p.D512D|SECISBP2_uc011ltk.1_Silent_p.D584D|SECISBP2_uc011ltl.1_Silent_p.D517D	NM_024077	NP_076982	Q96T21	SEBP2_HUMAN	Homo sapiens SECIS binding protein 2 (SECISBP2), mRNA.	585					translation	nucleus	mRNA 3'-UTR binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2)	32						AGGGGATGGACGAACTGATCT	0.567000														61			10		0	0	1	0	0
NUP160	23279	broad.mit.edu	37	11	47858490	47858490	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:47858490G>T	uc001ngm.3	-	5	976	c.891C>A	c.(889-891)gcC>gcA	p.A297A	NUP160_uc009ylw.3_Non-coding_Transcript|NUP160_uc021qiu.1_Silent_p.A297A	NM_015231	NP_056046	Q12769	NU160_HUMAN	Homo sapiens nucleoporin 160kDa (NUP160), mRNA.	297					carbohydrate metabolic process|glucose transport|mRNA export from nucleus|mitotic prometaphase|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	Nup107-160 complex|cytosol	nucleocytoplasmic transporter activity|protein binding			NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						CAAAGATGAAGGCATCATGCT	0.418000														63			5		0.0215528	0.0220531	1	1	0
ICA1	3382	broad.mit.edu	37	7	8261009	8261009	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:8261009G>A	uc003sro.4	-	4	412	c.276C>T	c.(274-276)aaC>aaT	p.N92N	ICA1_uc010ktr.3_Silent_p.N92N|ICA1_uc003srm.3_Silent_p.N92N|ICA1_uc003srn.4_Silent_p.N18N|ICA1_uc003srq.3_Silent_p.N92N|ICA1_uc003srr.3_Silent_p.N91N|ICA1_uc010kts.3_Non-coding_Transcript|ICA1_uc003srs.1_Silent_p.N92N	NM_001136020	NP_071682	Q05084	ICA69_HUMAN	Homo sapiens islet cell autoantigen 1, 69kDa (ICA1), mRNA.	92	AH.				neurotransmitter transport	Golgi membrane|cell junction|cytosol|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	23		Ovarian(82;0.0612)		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)		TTCCCAGTTCGTTTTCTTCTT	0.423000														78			15		0	0	1	0	0
RAD54L2	23132	broad.mit.edu	37	3	51667724	51667724	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:51667724C>T	uc011bdt.2	+	6	1082	c.957C>T	c.(955-957)atC>atT	p.I319I	RAD54L2_uc003dbh.3_5'UTR|RAD54L2_uc011bdu.2_Silent_p.I13I|RAD54L2_uc003dbj.3_5'UTR	NM_015106	NP_055921	Q9Y4B4	ARIP4_HUMAN	Homo sapiens RAD54-like 2 (S. cerevisiae) (RAD54L2), mRNA.	319	Helicase ATP-binding.					nucleus	ATP binding|DNA binding|helicase activity			NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		TCTCTTTCATCGACGTCCTCT	0.517000														47			30		0	0	1	0	0
NRBP1	29959	broad.mit.edu	37	2	27663750	27663750	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:27663750C>T	uc002rko.3	+	14	2104	c.1272C>T	c.(1270-1272)gtC>gtT	p.V424V	NRBP1_uc002rkp.3_Silent_p.V424V|NRBP1_uc002rkr.3_Silent_p.V215V|KRTCAP3_uc002rks.3_5'Flank|KRTCAP3_uc010ylr.2_5'Flank|KRTCAP3_uc021vfd.1_5'Flank|KRTCAP3_uc002rkt.3_5'Flank	NM_013392	NP_037524	Q9UHY1	NRBP_HUMAN	Homo sapiens nuclear receptor binding protein 1 (NRBP1), mRNA.	424					ER to Golgi vesicle-mediated transport|gene expression|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cell cortex|endomembrane system|lamellipodium|membrane|nucleoplasm	ATP binding|protein homodimerization activity|protein kinase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					CATCACCTGTCGTGCCCCCCT	0.602000														32			21		0	0	1	0	0
TBX1	6899	broad.mit.edu	37	22	19751680	19751680	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:19751680A>G	uc002zqa.1	+	4	644	c.515A>G	c.(514-516)tAc>tGc	p.Y172C	TBX1_uc002zqb.3_Missense_Mutation_p.Y172C|TBX1_uc002zqc.3_Missense_Mutation_p.Y172C	NM_080647	NP_542378	O43435	TBX1_HUMAN	Homo sapiens T-box 1 (TBX1), transcript variant C, mRNA.	172					embryonic viscerocranium morphogenesis|heart development|parathyroid gland development|pharyngeal system development|regulation of transcription from RNA polymerase II promoter|soft palate development|thymus development	nucleus	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|lung(3)|ovary(2)	8	Colorectal(54;0.0993)	all_lung(157;3.05e-06)				CGCTCCAGGTACGCCTTCCAC	0.672000														15			4		0	0	1	0	0
RPS6KB2	6199	broad.mit.edu	37	11	67198887	67198887	+	Missense_Mutation	SNP	C	T	T	rs113335412		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:67198887C>T	uc001old.3	+	4	440	c.358C>T	c.(358-360)Cgg>Tgg	p.R120W	RPS6KB2_uc021qmi.1_5'Flank	NM_003952	NP_003943	Q9UBS0	KS6B2_HUMAN	Homo sapiens ribosomal protein S6 kinase, 70kDa, polypeptide 2 (RPS6KB2), mRNA.	120	Protein kinase.				nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of translational initiation|translation	nucleoplasm	ATP binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|salivary_gland(1)|stomach(2)	25			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			ACGGGCTGAGCGGAACATTCT	0.527000														33			15		0	0	1	0	0
TMEM156	80008	broad.mit.edu	37	4	38995560	38995560	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:38995560C>A	uc003gto.3	-	2	525	c.417G>T	c.(415-417)caG>caT	p.Q139H	TMEM156_uc010ifj.3_Missense_Mutation_p.Q139H	NM_024943	NP_079219	Q8N614	TM156_HUMAN	Homo sapiens transmembrane protein 156 (TMEM156), mRNA.	139						integral to membrane				endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						AGTTAAAGTGCTGACAAGGTG	0.358000														46			37		3.03874e-20	3.92096e-20	1	1	0
MLL3	58508	broad.mit.edu	37	7	151917719	151917719	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:151917719T>G	uc003wla.3	-	22	3820	c.3601A>C	c.(3601-3603)Aaa>Caa	p.K1201Q	MLL3_uc003wkz.3_Missense_Mutation_p.K262Q	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	1201					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		AATTTTGGTTTTGACCGTTTT	0.443000			N		medulloblastoma									47			43		0	0	1	0	0
FAM123B	139285	broad.mit.edu	37	X	63410721	63410721	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:63410721G>A	uc022byb.1	-	0	2446	c.2446C>T	c.(2446-2448)Cgg>Tgg	p.R816W	FAM123B_uc004dvo.3_Missense_Mutation_p.R816W	NM_152424	NP_689637	Q5JTC6	F123B_HUMAN	Homo sapiens family with sequence similarity 123B (FAM123B), mRNA.	816					Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane		p.0?(67)		NS(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(132)|large_intestine(35)|liver(1)|lung(33)|ovary(5)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	225						TCCCCATCCCGTTCCACATCA	0.502000														14			14		0	0	1	0	0
PCDH18	54510	broad.mit.edu	37	4	138442723	138442723	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:138442723C>T	uc003ihe.4	-	3	3255	c.2868G>A	c.(2866-2868)acG>acA	p.T956T	PCDH18_uc003ihf.4_Silent_p.T948T|PCDH18_uc011cgz.2_Silent_p.T167T|PCDH18_uc003ihg.4_Silent_p.T735T|PCDH18_uc011cha.2_Silent_p.T136T	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	Homo sapiens protocadherin 18 (PCDH18), mRNA.	956	Interaction with DAB1 (By similarity).				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.T956T(2)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					GCTGGGGTTGCGTTGGGAATT	0.517000														86			33		0	0	1	0	0
RPP40	10799	broad.mit.edu	37	6	4996278	4996278	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:4996278G>T	uc003mwl.3	-	6	835	c.800C>A	c.(799-801)cCt>cAt	p.P267H	RPP40_uc003mwm.3_Missense_Mutation_p.P244H	NM_006638	NP_006629	O75818	RPP40_HUMAN	Homo sapiens ribonuclease P/MRP 40kDa subunit (RPP40), mRNA.	267					tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity			NS(1)|breast(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|urinary_tract(1)	14	Ovarian(93;0.11)	all_hematologic(90;0.0895)				GCTTGGCTCAGGACAGCAATA	0.383000														45			25		3.28513e-13	4.08142e-13	1	1	0
ANKRA2	57763	broad.mit.edu	37	5	72858427	72858427	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:72858427G>T	uc003kcu.2	-	1	939	c.280C>A	c.(280-282)Cta>Ata	p.L94I		NM_023039	NP_075526	Q9H9E1	ANRA2_HUMAN	Homo sapiens ankyrin repeat, family A (RFXANK-like), 2 (ANKRA2), mRNA.	94						cytoskeleton|cytosol|membrane	low-density lipoprotein particle binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	8		Lung NSC(167;0.0378)|Ovarian(174;0.0908)		OV - Ovarian serous cystadenocarcinoma(47;3.71e-54)		CCTTTAAATAGGACAGATGCC	0.323000														120			13		4.3838e-07	5.01911e-07	1	1	0
GPS2	2874	broad.mit.edu	37	17	7224923	7224923	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7224923G>A	uc002gga.1	-	17	3062	c.3055C>T	c.(3055-3057)Cag>Tag	p.Q1019*	GPS2_uc002gfy.1_5'Flank|GPS2_uc002gfz.1_5'Flank|GPS2_uc002ggb.1_Nonsense_Mutation_p.Q1017*|GPS2_uc002ggc.1_Nonsense_Mutation_p.Q365*	NM_032442	NP_115818	Q13227	GPS2_HUMAN	Homo sapiens neuralized homolog 4 (Drosophila) (NEURL4), transcript variant 1, mRNA.	0					JNK cascade|cell cycle|inactivation of MAPK activity|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter	transcriptional repressor complex	GTPase inhibitor activity|protein binding|transcription corepressor activity			breast(1)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(4)	24		Prostate(122;0.157)				CTCTGGAGCTGCCCATCACGC	0.652000														66			7		0	0	1	0	0
TRIP11	9321	broad.mit.edu	37	14	92470569	92470569	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:92470569C>A	uc001xzy.3	-	10	4125	c.3751G>T	c.(3751-3753)Gca>Tca	p.A1251S	TRIP11_uc010auf.2_Missense_Mutation_p.A987S	NM_004239	NP_004230	Q15643	TRIPB_HUMAN	Homo sapiens thyroid hormone receptor interactor 11 (TRIP11), mRNA.	1251					transcription from RNA polymerase II promoter	Golgi apparatus|cytoskeleton|membrane|nucleus	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		AAAACCTGTGCTTGAAGTTGG	0.398000			T	PDGFRB	AML									33			29		1.74807e-11	2.1378e-11	1	1	0
KIN	22944	broad.mit.edu	37	10	7820976	7820976	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:7820976C>T	uc001ijt.3	-	4	477	c.383G>A	c.(382-384)tGc>tAc	p.C128Y	KIN_uc010qaz.2_Non-coding_Transcript|KIN_uc010qba.2_Missense_Mutation_p.C22Y	NM_012311	NP_036443	O60870	KIN17_HUMAN	Homo sapiens KIN, antigenic determinant of recA protein homolog (mouse) (KIN), transcript variant 1, mRNA.	128					DNA recombination|DNA repair|DNA replication|interspecies interaction between organisms|mRNA processing	cytoplasm|nuclear matrix	RNA binding|double-stranded DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(2)	19						GTCCACTTTGCACAAGCCTTA	0.393000														53			25		0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	34130920	34130920	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:34130920A>G	uc001zhi.3	+	88	12809	c.12739A>G	c.(12739-12741)Act>Gct	p.T4247A	RYR3_uc010bar.3_Missense_Mutation_p.T4242A	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	4247					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CCATGATGACACTATGGAGGC	0.502000														18			18		0	0	1	0	0
SETBP1	26040	broad.mit.edu	37	18	42643159	42643159	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:42643159C>T	uc010dni.3	+	5	4583	c.4287C>T	c.(4285-4287)caC>caT	p.H1429H		NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	Homo sapiens SET binding protein 1 (SETBP1), transcript variant 1, mRNA.	1429						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		ACCTGGACCACGTGAACAAGA	0.557000									Schinzel-Giedion syndrome					12			10		0	0	1	0	0
CYP27A1	1593	broad.mit.edu	37	2	219679381	219679381	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:219679381G>A	uc002viz.4	+	7	1811	c.1377G>A	c.(1375-1377)agG>agA	p.R459R		NM_000784	NP_000775	Q02318	CP27A_HUMAN	Homo sapiens cytochrome P450, family 27, subfamily A, polypeptide 1 (CYP27A1), nuclear gene encoding mitochondrial protein, mRNA.	459					bile acid biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(3)|urinary_tract(1)	26		Renal(207;0.0474)		Epithelial(149;9.48e-07)|all cancers(144;0.000171)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00981)	Cholecalciferol(DB00169)	CTACCCCCAGGATCCAGCACC	0.632000														26			13		0	0	1	0	0
PNPLA1	285848	broad.mit.edu	37	6	36262002	36262002	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:36262002C>A	uc010jwf.2	+	3	540	c.540C>A	c.(538-540)ccC>ccA	p.P180P	PNPLA1_uc010jwe.1_Silent_p.P94P|PNPLA1_uc003olw.1_Silent_p.P85P	NM_001145717	NP_775947	Q8N8W4	PLPL1_HUMAN	Homo sapiens patatin-like phospholipase domain containing 1 (PNPLA1), transcript variant 3, mRNA.	180	Patatin.				lipid catabolic process		hydrolase activity			breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	22						GCATGCAGCCCTGTGCCTTCT	0.622000														31			15		2.23348e-06	2.52156e-06	1	1	0
MPI	4351	broad.mit.edu	37	15	75188494	75188494	+	Splice_Site	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:75188494G>A	uc002azc.1	+	6	676	c.671_splice	c.e6-1	p.A224_splice	MPI_uc010ulv.2_Splice_Site_p.A224_splice|MPI_uc010ulw.2_Splice_Site_p.T113_splice|MPI_uc002azd.1_Splice_Site_p.A224_splice|MPI_uc010ulx.1_Splice_Site_p.A174_splice|MPI_uc002aze.1_Splice_Site_p.T163_splice	NM_002435	NP_002426	P34949	MPI_HUMAN	Homo sapiens mannose phosphate isomerase (MPI), mRNA.	224					GDP-mannose biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	mannose-6-phosphate isomerase activity|zinc ion binding	p.A224A(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	9						GACCCTCAGCGGCTGCCGGAA	0.557000														32			28		0	0	1	0	0
YSK4	80122	broad.mit.edu	37	2	135744064	135744064	+	Missense_Mutation	SNP	T	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:135744064T>A	uc002tue.1	-	6	2409	c.2378A>T	c.(2377-2379)gAg>gTg	p.E793V	YSK4_uc002tuf.1_Intron|YSK4_uc010fnc.1_Intron|YSK4_uc010fnd.1_Missense_Mutation_p.E680V|YSK4_uc010zbg.1_Intron|YSK4_uc002tuh.4_Missense_Mutation_p.E521V|YSK4_uc002tui.4_Missense_Mutation_p.E810V	NM_025052	NP_079328	Q56UN5	YSK4_HUMAN	Homo sapiens YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae) (YSK4), transcript variant 1, mRNA.	793							ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(221;0.112)		CATGGACTGCTCAGGTGTCTG	0.398000														64			31		0	0	1	0	0
VWA3B	200403	broad.mit.edu	37	2	98928714	98928714	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:98928714G>A	uc002syo.3	+	27	4051	c.3787G>A	c.(3787-3789)Gcc>Acc	p.A1263T	VWA3B_uc002syr.1_3'UTR|VWA3B_uc002sys.3_Non-coding_Transcript	NM_144992	NP_659429	Q502W6	VWA3B_HUMAN	Homo sapiens von Willebrand factor A domain containing 3B (VWA3B), mRNA.	1263										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CAGCAGCCACGCCATCATTGC	0.597000														30			28		0	0	1	0	0
MLL3	58508	broad.mit.edu	37	7	151962266	151962266	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:151962266G>A	uc003wla.3	-	7	1260	c.1041C>T	c.(1039-1041)tgC>tgT	p.C347C		NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	347			C -> G (in a colorectal cancer sample; somatic mutation).		intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	p.C347G(1)		NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		CCGGGCTGTCGCACACTGCAC	0.378000			N		medulloblastoma									185			9		0	0	1	0	0
RNF214	257160	broad.mit.edu	37	11	117109762	117109762	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:117109762C>T	uc001pqt.3	+	2	598	c.553C>T	c.(553-555)Cga>Tga	p.R185*	RNF214_uc001pqu.3_Nonsense_Mutation_p.R185*|RNF214_uc010rxf.2_Intron	NM_207343	NP_997226	Q8ND24	RN214_HUMAN	Homo sapiens ring finger protein 214 (RNF214), transcript variant 1, mRNA.	185							zinc ion binding			cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258)		TGAAGGAGTCCGAGTGGATCA	0.443000														46			39		0	0	1	0	0
OXER1	165140	broad.mit.edu	37	2	42991053	42991053	+	Silent	SNP	C	T	T	rs143056921	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:42991053C>T	uc002rss.3	-	0	349	c.267G>A	c.(265-267)tcG>tcA	p.S89S		NM_148962	NP_683765	Q8TDS5	OXER1_HUMAN	Homo sapiens oxoeicosanoid (OXE) receptor 1 (OXER1), mRNA.	89	Ser-rich.				regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	5(S)-hydroxyperoxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-hydroxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-oxo-6E,8Z,11Z,14Z-icosatetraenoic acid binding|G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	10						CAGACACCAGCGAGGAAGAGG	0.632000														19			15		0	0	1	0	0
EGR1	1958	broad.mit.edu	37	5	137803019	137803019	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:137803019C>T	uc003ldb.1	+	1	1151	c.881C>T	c.(880-882)gCc>gTc	p.A294V		NM_001964	NP_001955	P18146	EGR1_HUMAN	Homo sapiens early growth response 1 (EGR1), mRNA.	294					cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytoplasm|nucleus	histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			ACTATTAAGGCCTTTGCCACT	0.627000														76			47		0	0	1	0	0
FAM190A	401145	broad.mit.edu	37	4	91230488	91230488	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:91230488A>G	uc003hsv.4	+	1	1393	c.1053A>G	c.(1051-1053)caA>caG	p.Q351Q	FAM190A_uc003hsu.3_Silent_p.Q351Q|FAM190A_uc010ikv.2_Non-coding_Transcript|FAM190A_uc003hsw.3_Silent_p.Q351Q	NM_001145065	NP_001138537	Q9C0I3	F190A_HUMAN	Homo sapiens family with sequence similarity 190, member A (FAM190A), transcript variant 1, mRNA.	351										NS(2)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22						TGTTATTACAAATTGCTGAAC	0.393000														43			8		0	0	1	0	0
DOCK1	1793	broad.mit.edu	37	10	128850978	128850978	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:128850978C>T	uc010qun.2	+	21	2299	c.2235C>T	c.(2233-2235)gaC>gaT	p.D745D	DOCK1_uc001ljt.3_Silent_p.D724D	NM_001380	NP_001371	Q14185	DOCK1_HUMAN	Homo sapiens dedicator of cytokinesis 1 (DOCK1), mRNA.	724					apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		ACTACGTGGACGGTGCTGAGA	0.433000														36			29		0	0	1	0	0
WRN	7486	broad.mit.edu	37	8	30938402	30938402	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:30938402G>T	uc003xio.4	+	8	1647	c.859G>T	c.(859-861)Gat>Tat	p.D287Y	WRN_uc011lbd.1_5'UTR|WRN_uc011lbe.1_5'Flank	NM_000553	NP_000544	Q14191	WRN_HUMAN	Homo sapiens Werner syndrome, RecQ helicase-like (WRN), mRNA.	287					DNA recombination|DNA synthesis involved in DNA repair|base-excision repair|cellular response to starvation|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to UV-C|response to oxidative stress|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|G-quadruplex DNA binding|Y-form DNA binding|bubble DNA binding|four-way junction helicase activity|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		CTTACTAAAGGATATTTCAGA	0.299000			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome					22			8		0.000157383	0.000170012	1	1	0
STK33	65975	broad.mit.edu	37	11	8496321	8496321	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:8496321C>A	uc001mgi.1	-	0	1051	c.132G>T	c.(130-132)caG>caT	p.Q44H	STK33_uc001mgj.1_Missense_Mutation_p.Q44H|STK33_uc001mgk.1_Missense_Mutation_p.Q44H|STK33_uc010rbn.1_Missense_Mutation_p.Q3H|STK33_uc001mgl.3_Intron|STK33_uc009yfp.3_Intron	NM_030906	NP_112168	Q9BYT3	STK33_HUMAN	Homo sapiens serine/threonine kinase 33 (STK33), mRNA.	44						Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3)	23				Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)		TGCTTGATGTCTGTGACATTT	0.378000														139			9		1.58986e-06	1.80238e-06	1	1	0
SLC26A10	65012	broad.mit.edu	37	12	58016682	58016682	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:58016682G>A	uc001spe.3	+	5	1215	c.904G>A	c.(904-906)Gca>Aca	p.A302T	SLC26A10_uc001spf.3_Non-coding_Transcript|SLC26A10_uc009zpz.2_5'Flank	NM_133489	NP_597996	Q8NG04	S2610_HUMAN	Homo sapiens solute carrier family 26, member 10 (SLC26A10), mRNA.	302						integral to membrane	antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)	19	Melanoma(17;0.122)					CTCCATCCATGCAGACAAGTA	0.562000														26			18		0	0	1	0	0
HUWE1	10075	broad.mit.edu	37	X	53641542	53641542	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:53641542C>T	uc004dsp.3	-	22	2616	c.2214G>A	c.(2212-2214)atG>atA	p.M738I		NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	Homo sapiens HECT, UBA and WWE domain containing 1 (HUWE1), mRNA.	738					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TAAAGCTCTGCATGGCCTGTA	0.473000														73			44		0	0	1	0	0
ZNF45	7596	broad.mit.edu	37	19	44419006	44419006	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:44419006A>G	uc002oxu.2	-	3	681	c.582T>C	c.(580-582)tgT>tgC	p.C194C	ZNF45_uc002oxw.2_Silent_p.C194C	NM_003425	NP_003416	Q02386	ZNF45_HUMAN	Homo sapiens zinc finger protein 45 (ZNF45), mRNA.	194					multicellular organismal development	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	17						CACATTTTTCACATTTGTAGG	0.413000														113			69		0	0	1	0	0
RUNDC3A	10900	broad.mit.edu	37	17	42392184	42392184	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:42392184C>T	uc002igl.4	+	4	814	c.540C>T	c.(538-540)atC>atT	p.I180I	RUNDC3A_uc002igi.3_Silent_p.I180I|RUNDC3A_uc002igj.3_Silent_p.I175I	NM_001144825	NP_001138297	Q59EK9	RUN3A_HUMAN	Homo sapiens RUN domain containing 3A (RUNDC3A), transcript variant 1, mRNA.	180	Interaction with RAP2A (By similarity).|RUN.				small GTPase mediated signal transduction		small GTPase regulator activity			large_intestine(1)|lung(1)|ovary(2)	4		Prostate(33;0.0233)		BRCA - Breast invasive adenocarcinoma(366;0.189)		TGAGCGCCATCGACTTCAGGT	0.612000														18			7		0	0	1	0	0
SEC24B	10427	broad.mit.edu	37	4	110415857	110415857	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:110415857C>T	uc003hzk.3	+	5	1388	c.1333C>T	c.(1333-1335)Cca>Tca	p.P445S	SEC24B_uc003hzl.3_Missense_Mutation_p.P410S|SEC24B_uc011cfp.2_Missense_Mutation_p.P476S|SEC24B_uc011cfq.2_Missense_Mutation_p.P445S|SEC24B_uc011cfr.2_Missense_Mutation_p.P410S	NM_006323	NP_006314	O95487	SC24B_HUMAN	Homo sapiens SEC24 family, member B (S. cerevisiae) (SEC24B), transcript variant 1, mRNA.	445					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|Golgi membrane|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding			breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		AGCTTCAGCTCCAGCTCCTGT	0.493000														91			5		0	0	1	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64617176	64617176	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:64617176G>A	uc003dmg.3	-	15	2376	c.2344C>T	c.(2344-2346)Cgg>Tgg	p.R782W	ADAMTS9_uc011bfo.2_Missense_Mutation_p.R754W|ADAMTS9_uc003dmh.1_Missense_Mutation_p.R611W|ADAMTS9_uc003dmk.1_Missense_Mutation_p.R782W	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 9 (ADAMTS9), mRNA.	782	Spacer.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		CTGTGCTGCCGCACATCAATA	0.463000														120			16		0	0	1	0	0
EXOC8	149371	broad.mit.edu	37	1	231472244	231472244	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:231472244C>T	uc001huq.3	-	0	1335	c.1248G>A	c.(1246-1248)tcG>tcA	p.S416S		NM_175876	NP_787072	Q8IYI6	EXOC8_HUMAN	Homo sapiens exocyst complex component 8 (EXOC8), mRNA.	416					exocytosis|protein transport	growth cone|nucleus	protein binding			cervix(2)|endometrium(1)|large_intestine(2)|liver(1)|lung(5)|prostate(1)|skin(1)|stomach(1)	14	Breast(184;0.0871)	all_cancers(173;0.151)|Prostate(94;0.183)				GGATCAGTTGCGAAACTGCTC	0.552000														53			7		0	0	1	0	0
NANOS2	339345	broad.mit.edu	37	19	46417658	46417658	+	Silent	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:46417658A>G	uc002pdu.3	-	0	379	c.294T>C	c.(292-294)tgT>tgC	p.C98C		NM_001029861	NP_001025032	P60321	NANO2_HUMAN	Homo sapiens nanos homolog 2 (Drosophila) (NANOS2), mRNA.	98					germ-line stem cell maintenance|mRNA catabolic process|multicellular organismal development|negative regulation of meiosis|regulation of translation|spermatogenesis	cytoplasmic mRNA processing body|perinuclear region of cytoplasm	RNA binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)	6		Ovarian(192;0.0308)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0668)|Epithelial(262;0.231)		CGCACACGGGACACACGTAGT	0.652000														23			4		0	0	1	0	0
FANCM	57697	broad.mit.edu	37	14	45645467	45645467	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:45645467G>A	uc001wwd.4	+	13	3609	c.3510G>A	c.(3508-3510)acG>acA	p.T1170T	FANCM_uc010anf.3_Silent_p.T1144T|FANCM_uc001wwe.4_Silent_p.T706T|FANCM_uc010ang.3_Silent_p.T384T	NM_020937	NP_065988	Q8IYD8	FANCM_HUMAN	Homo sapiens Fanconi anemia, complementation group M (FANCM), mRNA.	1170					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|DNA binding|chromatin binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						TTAGTGAAACGCCTCTGGTCT	0.373000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia					51			45		0	0	1	0	0
MYEOV	26579	broad.mit.edu	37	11	69063719	69063719	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:69063719G>A	uc001oov.3	+	2	1252	c.802G>A	c.(802-804)Gcc>Acc	p.A268T	MYEOV_uc001oox.3_Intron|MYEOV_uc009ysl.3_Missense_Mutation_p.A268T|MYEOV_uc001oow.3_Missense_Mutation_p.A210T	NM_138768	NP_620123	Q96EZ4	MYEOV_HUMAN	Homo sapiens myeloma overexpressed (in a subset of t(11;14) positive multiple myelomas) (MYEOV), mRNA.	268										endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|urinary_tract(1)	24	all_lung(4;2.21e-19)|Lung NSC(4;6.13e-19)|Melanoma(5;0.00128)		LUSC - Lung squamous cell carcinoma(11;3.33e-11)|STAD - Stomach adenocarcinoma(18;0.00654)|LUAD - Lung adenocarcinoma(13;0.0713)	Kidney(183;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.00361)|LUSC - Lung squamous cell carcinoma(976;0.0153)		GACTGTTGAGGCCCTGGGGGG	0.672000														13			13		0	0	1	0	0
DCAF8L1	139425	broad.mit.edu	37	X	27997794	27997794	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:27997794C>T	uc004dbx.1	-	0	1773	c.1658G>A	c.(1657-1659)cGt>cAt	p.R553H		NM_001017930	NP_001017930	A6NGE4	DC8L1_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 8-like 1 (DCAF8L1), mRNA.	553								p.R553C(1)|p.V552V(1)|p.V552L(1)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						TAACAGGTGACGCACGAAGAA	0.478000														62			29		0	0	1	0	0
GPR158	57512	broad.mit.edu	37	10	25510037	25510037	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:25510037G>T	uc001isj.3	+	1	1019	c.959G>T	c.(958-960)aGt>aTt	p.S320I		NM_020752	NP_065803	Q5T848	GP158_HUMAN	Homo sapiens G protein-coupled receptor 158 (GPR158), mRNA.	320						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						CAATGCTCAAGTGATGGCTGG	0.343000														56			7		5.18039e-06	5.80246e-06	1	1	0
MUC17	140453	broad.mit.edu	37	7	100686241	100686241	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100686241C>A	uc003uxp.1	+	2	11597	c.11544C>A	c.(11542-11544)acC>acA	p.T3848T	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	3848						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)					CTTTGCTCACCTCTACCAAAG	0.458000														38			48		8.00217e-19	1.02783e-18	1	1	0
ANKRD13B	124930	broad.mit.edu	37	17	27934865	27934865	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:27934865G>A	uc002hei.3	+	1	333	c.220G>A	c.(220-222)Gtg>Atg	p.V74M	ANKRD13B_uc002heh.3_5'UTR|ANKRD13B_uc002hej.3_Non-coding_Transcript	NM_152345	NP_689558	Q86YJ7	AN13B_HUMAN	Homo sapiens ankyrin repeat domain 13B (ANKRD13B), mRNA.	74										cervix(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	16						CGGCGCAGACGTGGGCAGGGA	0.697000														25			10		0	0	1	0	0
CNTNAP1	8506	broad.mit.edu	37	17	40845514	40845514	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:40845514C>A	uc002iay.3	+	17	3168	c.2952C>A	c.(2950-2952)gaC>gaA	p.D984E	CNTNAP1_uc010wgs.2_Non-coding_Transcript	NM_003632	NP_003623	P78357	CNTP1_HUMAN	Homo sapiens contactin associated protein 1 (CNTNAP1), mRNA.	984	EGF-like 2.				axon guidance|cell adhesion	paranode region of axon	SH3 domain binding|SH3/SH2 adaptor activity|receptor activity|receptor binding			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		ACACGTGTGACTGTGACCTCA	0.587000														68			36		8.73648e-17	1.10906e-16	1	1	0
DNMT3A	1788	broad.mit.edu	37	2	25497902	25497902	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:25497902G>A	uc002rgc.3	-	5	804	c.547C>T	c.(547-549)Cgg>Tgg	p.R183W	DNMT3A_uc002rgd.3_Missense_Mutation_p.R183W|DNMT3A_uc010eyi.3_Non-coding_Transcript	NM_022552	NP_783328	Q9Y6K1	DNM3A_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 3 alpha (DNMT3A), transcript variant 3, mRNA.	183					regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGCATGGGCCGCTGACGGAGG	0.672000			"""Mis, F, N, S"""		AML									7			9		0	0	1	0	0
GPR155	151556	broad.mit.edu	37	2	175301093	175301093	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:175301093G>T	uc002uit.3	-	16	2755	c.2364C>A	c.(2362-2364)agC>agA	p.S788R	GPR155_uc002uiu.3_Missense_Mutation_p.S788R|GPR155_uc002uiv.3_Missense_Mutation_p.S788R|GPR155_uc010fqs.3_Missense_Mutation_p.S760R	NM_001033045	NP_689742	Q7Z3F1	GP155_HUMAN	Homo sapiens G protein-coupled receptor 155 (GPR155), transcript variant 9, mRNA.	788	DEP.				intracellular signal transduction|transmembrane transport	integral to membrane				breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	26						CAATTAGCCAGCTCACCAGGT	0.488000														43			32		4.74835e-14	5.93493e-14	1	1	0
SNX7	51375	broad.mit.edu	37	1	99161245	99161245	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:99161245T>G	uc010ouc.2	+	4	863	c.811T>G	c.(811-813)Tct>Gct	p.S271A	SNX7_uc001dsa.3_Missense_Mutation_p.S207A|SNX7_uc010oud.2_Missense_Mutation_p.S216A	NM_015976	NP_057060	Q9UNH6	SNX7_HUMAN	Homo sapiens sorting nexin 7 (SNX7), transcript variant 1, mRNA.	207					cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	13		all_epithelial(167;7.64e-07)|all_lung(203;0.0006)|Lung NSC(277;0.00137)		Epithelial(280;0.0521)|all cancers(265;0.0687)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.207)|Colorectal(170;0.234)		AGATAAAATATCTCAGAGAAT	0.318000														77			29		0	0	1	0	0
YLPM1	56252	broad.mit.edu	37	14	75248346	75248346	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:75248346C>T	uc001xqj.4	+	3	1724	c.1600C>T	c.(1600-1602)Ccc>Tcc	p.P534S	YLPM1_uc001xql.4_Non-coding_Transcript	NM_019589	NP_062535	P49750	YLPM1_HUMAN	Homo sapiens YLP motif containing 1 (YLPM1), mRNA.	341					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		ACCTACAATGCCCCCTCCAGT	0.532000														73			51		0	0	1	0	0
ERLEC1	27248	broad.mit.edu	37	2	54021567	54021567	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:54021567T>C	uc002rxl.3	+	1	528	c.248T>C	c.(247-249)cTt>cCt	p.L83P	GPR75-ASB3_uc002rxi.4_Intron|ERLEC1_uc002rxm.3_Missense_Mutation_p.L83P|ERLEC1_uc002rxn.3_Missense_Mutation_p.L83P	NM_015701	NP_056516	Q96DZ1	ERLEC_HUMAN	Homo sapiens endoplasmic reticulum lectin 1 (ERLEC1), transcript variant 1, mRNA.	83					ER-associated protein catabolic process	endoplasmic reticulum lumen	glycoprotein binding|protein binding			endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|stomach(1)|urinary_tract(1)	18						ATACTTCCCCTTGTGACAAGT	0.294000														12			17		0	0	1	0	0
DYSF	8291	broad.mit.edu	37	2	71908241	71908241	+	Splice_Site	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:71908241G>A	uc010fen.3	+	54	6314	c.6173_splice	c.e54+1	p.R2058_splice	DYSF_uc010fei.3_Splice_Site_p.R2036_splice|DYSF_uc010feh.3_Splice_Site_p.R2026_splice|DYSF_uc002sig.4_Splice_Site_p.R2005_splice|DYSF_uc010yqx.2_Splice_Site|DYSF_uc010feg.3_Splice_Site_p.R2050_splice|DYSF_uc010fee.3_Splice_Site_p.R2040_splice|DYSF_uc010fef.3_Splice_Site_p.R2057_splice|DYSF_uc002sie.3_Splice_Site_p.R2019_splice|DYSF_uc010feo.3_Splice_Site_p.R2051_splice|DYSF_uc010fej.3_Splice_Site_p.R2027_splice|DYSF_uc010fel.3_Splice_Site_p.R2006_splice|DYSF_uc010fem.3_Splice_Site_p.R2041_splice|DYSF_uc002sif.3_Splice_Site_p.R2020_splice|DYSF_uc010fek.3_Splice_Site_p.R2037_splice|DYSF_uc010yqy.2_Splice_Site_p.R900_splice|DYSF_uc010yqz.2_Splice_Site_p.R780_splice	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.	2019						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						AGGACCCAAGGTCAGTGCCCA	0.587000														11			9		0	0	1	0	0
ZNF611	81856	broad.mit.edu	37	19	53208596	53208596	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:53208596C>T	uc002pzz.3	-	6	2029	c.1712G>A	c.(1711-1713)tGc>tAc	p.C571Y	ZNF611_uc010eqc.3_Missense_Mutation_p.C501Y|ZNF611_uc010ydo.2_Missense_Mutation_p.C501Y|ZNF611_uc010ydp.2_Missense_Mutation_p.C571Y|ZNF611_uc010ydq.2_Missense_Mutation_p.C571Y|ZNF611_uc010ydr.2_Missense_Mutation_p.C502Y|ZNF611_uc002qaa.4_Missense_Mutation_p.C501Y|ZNF611_uc021uyy.1_Missense_Mutation_p.C502Y	NM_030972	NP_001154973	Q8N823	ZN611_HUMAN	Homo sapiens zinc finger protein 611 (ZNF611), transcript variant 1, mRNA.	571					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)		GGTCTTGCTGCACTCATTACA	0.408000														136			79		0	0	1	0	0
RGPD3	653489	broad.mit.edu	37	2	107073497	107073497	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:107073497C>T	uc010ywi.1	-	3	392	c.335G>A	c.(334-336)gGa>gAa	p.G112E		NM_001144013	NP_001137485	A6NKT7	RGPD3_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 3 (RGPD3), mRNA.	112					intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TTCTGCTCTTCCATCAGTAAC	0.348000														160			81		0	0	1	0	0
DLK1	8788	broad.mit.edu	37	14	101200826	101200826	+	Missense_Mutation	SNP	G	A	A	rs138651182		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:101200826G>A	uc001yhs.4	+	4	949	c.745G>A	c.(745-747)Gcg>Acg	p.A249T	DLK1_uc001yhu.4_Intron|DLK1_uc021sbs.1_5'Flank	NM_003836	NP_003827	P80370	DLK1_HUMAN	Homo sapiens delta-like 1 homolog (Drosophila) (DLK1), mRNA.	249					multicellular organismal development	extracellular space|integral to membrane|soluble fraction		p.A249V(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(16)|ovary(2)|prostate(1)|skin(1)	29		Melanoma(154;0.155)				CAAGAAGCGCGCGCTGAGCCC	0.682000														55			6		0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123846233	123846233	+	Silent	SNP	A	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:123846233A>C	uc001lfv.3	+	3	4578	c.4218A>C	c.(4216-4218)ccA>ccC	p.P1406P	TACC2_uc001lfw.3_Intron|TACC2_uc009xzx.3_Silent_p.P1406P|TACC2_uc010qtv.2_Silent_p.P1406P	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	1406						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CTGGCTTCCCAGACTTCAGGG	0.597000														49			6		0	0	1	0	0
TPP2	7174	broad.mit.edu	37	13	103268766	103268766	+	Silent	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:103268766C>A	uc001vpi.4	+	3	514	c.411C>A	c.(409-411)atC>atA	p.I137I		NM_003291	NP_003282	P29144	TPP2_HUMAN	Homo sapiens tripeptidyl peptidase II (TPP2), mRNA.	137					proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AGGAAAAAATCTGGGACCCTG	0.423000														52			12		1.3612e-06	1.54683e-06	1	1	0
RAD50	10111	broad.mit.edu	37	5	131953826	131953826	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:131953826C>T	uc003kxi.3	+	20	3630	c.3229C>T	c.(3229-3231)Cga>Tga	p.R1077*	RAD50_uc003kxh.3_Nonsense_Mutation_p.R938*	NM_005732	NP_005723	Q92878	RAD50_HUMAN	Homo sapiens RAD50 homolog (S. cerevisiae) (RAD50), mRNA.	1077					DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GGCATTAGGGCGACAGAAAGG	0.318000								Homologous recombination						176			88		0	0	1	0	0
TAS2R46	259292	broad.mit.edu	37	12	11214399	11214399	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:11214399C>A	uc001qzp.1	-	0	495	c.495G>T	c.(493-495)aaG>aaT	p.K165N	PRH1_uc001qzb.4_Intron|TAS2R14_uc021qve.1_Intron|PRH1_uc021qvg.1_Intron|PRB4_uc001qzf.1_Intron|TAS2R14_uc001qzj.3_Intron	NM_176887	NP_795368	P59540	T2R46_HUMAN	Homo sapiens taste receptor, type 2, member 46 (TAS2R46), mRNA.	165					sensory perception of taste	cilium membrane|integral to membrane	G-protein coupled receptor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(49;0.0344)	BRCA - Breast invasive adenocarcinoma(232;0.196)		TCAGTTTGATCTTCCAAGTCA	0.363000														46			26		1.55469e-16	1.97158e-16	1	1	0
C4orf22	255119	broad.mit.edu	37	4	81866076	81866076	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:81866076C>A	uc010ijp.3	+	5	689	c.640C>A	c.(640-642)Ctt>Att	p.L214I	C4orf22_uc003hmf.3_Missense_Mutation_p.L197I	NM_001206997	NP_001193926	Q6V702	CD022_HUMAN	Homo sapiens chromosome 4 open reading frame 22 (C4orf22), transcript variant 1, mRNA.	197								p.L197I(1)		NS(1)|large_intestine(3)|lung(5)|prostate(1)|skin(5)	15						CAGAAAAATTCTTAATGTGGA	0.333000														56			16		4.7546e-09	5.62729e-09	1	1	0
CNTN4	152330	broad.mit.edu	37	3	3095607	3095607	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:3095607C>T	uc003bpc.3	+	23	3267	c.2928C>T	c.(2926-2928)agC>agT	p.S976S	CNTN4_uc021wsg.1_Silent_p.S976S|CNTN4_uc003bpe.3_Silent_p.S648S|CNTN4_uc003bpf.3_Silent_p.S647S|CNTN4_uc003bpg.3_Silent_p.S232S	NM_175607	NP_783302	Q8IWV2	CNTN4_HUMAN	Homo sapiens contactin 4 (CNTN4), transcript variant 1, mRNA.	976	Fibronectin type-III 4.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		AGCCATTCAGCGACGGAGGAG	0.388000														35			18		0	0	1	0	0
TFR2	7036	broad.mit.edu	37	7	100228540	100228540	+	Silent	SNP	G	A	A	rs150883560	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100228540G>A	uc003uvv.1	-	8	1311	c.1242C>T	c.(1240-1242)ttC>ttT	p.F414F	TFR2_uc010lhc.1_5'UTR|TFR2_uc003uvu.1_Silent_p.F243F	NM_003227	NP_003218	Q9UP52	TFR2_HUMAN	Homo sapiens transferrin receptor 2 (TFR2), transcript variant 1, mRNA.	414					cellular iron ion homeostasis|iron ion transport|proteolysis	cytoplasm|integral to plasma membrane	peptidase activity|transferrin receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					CGATGCAGCCGAAGATGTTGT	0.602000														59			4		0	0	1	0	0
DDX42	11325	broad.mit.edu	37	17	61895514	61895514	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:61895514G>A	uc002jbu.3	+	18	2830	c.2573G>A	c.(2572-2574)cGg>cAg	p.R858Q	DDX42_uc002jbv.3_Missense_Mutation_p.R858Q|DDX42_uc002jbx.3_Missense_Mutation_p.R594Q|DDX42_uc002jby.3_Missense_Mutation_p.R404Q|DDX42_uc010wps.2_Missense_Mutation_p.R226Q	NM_007372	NP_987095	Q86XP3	DDX42_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 42 (DDX42), transcript variant 1, mRNA.	858	Gly-rich.|His-rich.				protein localization|regulation of anti-apoptosis	Cajal body|cytoplasm|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding|protein binding	p.R858W(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						GATGGCCATCGGCACGGGGAG	0.567000														52			32		0	0	1	0	0
GCNT4	51301	broad.mit.edu	37	5	74325630	74325630	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:74325630T>G	uc003kdn.3	-	0	1095	c.233A>C	c.(232-234)gAa>gCa	p.E78A		NM_016591	NP_057675	Q9P109	GCNT4_HUMAN	Homo sapiens glucosaminyl (N-acetyl) transferase 4, core 2 (GCNT4), mRNA.	78					protein O-linked glycosylation	Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|skin(1)|stomach(2)	19		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;8.44e-57)		AGGCTCCTGTTCATAGATACC	0.413000														67			54		0	0	1	0	0
RAD17	5884	broad.mit.edu	37	5	68695879	68695879	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:68695879C>T	uc003jwo.3	+	13	1671	c.1609C>T	c.(1609-1611)Cgg>Tgg	p.R537W	RAD17_uc003jwg.3_Missense_Mutation_p.R526W|RAD17_uc003jwi.3_Missense_Mutation_p.R526W|RAD17_uc003jwh.3_Missense_Mutation_p.R526W|RAD17_uc003jwj.3_Missense_Mutation_p.R526W|RAD17_uc003jwk.3_Missense_Mutation_p.R526W|RAD17_uc003jwl.3_Missense_Mutation_p.R526W|RAD17_uc003jwm.3_Missense_Mutation_p.R361W|RAD17_uc003jwn.3_Missense_Mutation_p.R440W	NM_133339	NP_579917	O75943	RAD17_HUMAN	Homo sapiens RAD17 homolog (S. pombe) (RAD17), transcript variant 2, mRNA.	537	Interaction with MCM7.				DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint|cell cycle|mitotic cell cycle checkpoint|negative regulation of DNA replication|regulation of phosphorylation	nucleoplasm	ATP binding|nucleoside-triphosphatase activity|protein binding						Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183)		TATACAGTATCGGGAAAATTG	0.328000								Other conserved DNA damage response genes						27			13		0	0	1	0	0
ESCO1	114799	broad.mit.edu	37	18	19153731	19153731	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:19153731C>T	uc002kth.1	-	3	2008	c.1074G>A	c.(1072-1074)caG>caA	p.Q358Q	ESCO1_uc002kti.1_Non-coding_Transcript	NM_052911	NP_443143	Q5FWF5	ESCO1_HUMAN	Homo sapiens establishment of cohesion 1 homolog 1 (S. cerevisiae) (ESCO1), mRNA.	358					cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding			breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1)	35						ATTGCACATCCTGATTTGTTT	0.363000														130			10		0	0	1	0	0
SYTL4	94121	broad.mit.edu	37	X	99941132	99941132	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:99941132G>T	uc004egd.4	-	14	1660	c.1304C>A	c.(1303-1305)tCt>tAt	p.S435Y	SYTL4_uc010nnb.3_Missense_Mutation_p.S107Y|SYTL4_uc010nnc.3_Missense_Mutation_p.S435Y|SYTL4_uc004ege.4_Missense_Mutation_p.S435Y|SYTL4_uc004egf.4_Missense_Mutation_p.S435Y|SYTL4_uc004egg.4_3'UTR	NM_080737	NP_542775	Q96C24	SYTL4_HUMAN	Homo sapiens synaptotagmin-like 4 (SYTL4), transcript variant 1, mRNA.	435	C2 1.				exocytosis|intracellular protein transport	extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane	Rab GTPase binding|neurexin binding|phospholipid binding|transporter activity|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GGCCAGGAGAGATTCTGGGAT	0.458000														10			6		0.0293803	0.0299714	1	1	0
ZNF618	114991	broad.mit.edu	37	9	116750643	116750643	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:116750643C>T	uc004bid.3	+	2	219	c.120C>T	c.(118-120)ggC>ggT	p.G40G	ZNF618_uc004bib.1_Silent_p.G40G|ZNF618_uc004bic.3_Silent_p.G40G|ZNF618_uc011lxi.2_Silent_p.G40G|ZNF618_uc011lxj.2_Silent_p.G40G	NM_133374	NP_588615	Q5T7W0	ZN618_HUMAN	Homo sapiens zinc finger protein 618 (ZNF618), mRNA.	40					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						AGGTGGAGGGCCCAGAGCCAG	0.587000														16			13		0	0	1	0	0
OPRD1	4985	broad.mit.edu	37	1	29185541	29185541	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:29185541G>A	uc001brf.1	+	1	545	c.303G>A	c.(301-303)acG>acA	p.T101T		NM_000911	NP_000902	P41143	OPRD_HUMAN	Homo sapiens opioid receptor, delta 1 (OPRD1), mRNA.	101					immune response|protein import into nucleus, translocation	integral to plasma membrane	delta-opioid receptor activity|protein binding			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;0.000947)|all_lung(284;0.00131)|Renal(390;0.00758)|Breast(348;0.00765)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-07)|COAD - Colon adenocarcinoma(152;7.51e-06)|STAD - Stomach adenocarcinoma(196;0.00306)|BRCA - Breast invasive adenocarcinoma(304;0.0241)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)	Butorphanol(DB00611)|Codeine(DB00318)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Loperamide(DB00836)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pimozide(DB01100)|Propoxyphene(DB00647)	CCACCAGCACGCTGCCTTTCC	0.517000														46			39		0	0	1	0	0
PALM	5064	broad.mit.edu	37	19	746643	746643	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:746643C>T	uc002lpm.1	+	8	1187	c.993C>T	c.(991-993)atC>atT	p.I331I	PALM_uc002lpn.1_Silent_p.I287I|PALM_uc010xfu.1_Silent_p.I196I	NM_002579	NP_002570	O75781	PALM_HUMAN	Homo sapiens paralemmin (PALM), transcript variant 1, mRNA.	331					cellular component movement|negative regulation of adenylate cyclase activity|negative regulation of dopamine receptor signaling pathway|positive regulation of filopodium assembly|regulation of cell shape	cytoplasmic membrane-bounded vesicle|filopodium membrane|integral to plasma membrane				endometrium(2)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)|Lung(535;0.201)		TGGTGGTCATCGAAGACGCGG	0.627000														10			8		0	0	1	0	0
TRAK2	66008	broad.mit.edu	37	2	202257753	202257753	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:202257753T>C	uc002uyb.4	-	9	1438	c.992A>G	c.(991-993)gAc>gGc	p.D331G		NM_015049	NP_055864	O60296	TRAK2_HUMAN	Homo sapiens trafficking protein, kinesin binding 2 (TRAK2), mRNA.	331				Missing (in Ref. 2).		early endosome|plasma membrane	GABA receptor binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						CATATTCCTGTCTTGTAACTC	0.398000														52			4		0	0	1	0	0
CENPI	2491	broad.mit.edu	37	X	100356228	100356228	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:100356228G>A	uc004egx.3	+	1	439	c.169G>A	c.(169-171)Gct>Act	p.A57T	CENPI_uc011mrg.2_Missense_Mutation_p.A57T|CENPI_uc004egy.3_Missense_Mutation_p.A57T	NM_006733	NP_006724	Q92674	CENPI_HUMAN	Homo sapiens centromere protein I (CENPI), mRNA.	57					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	cytosol|kinetochore|nucleoplasm	protein binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(19)|prostate(1)|skin(2)	30						TTATGAACATGCTGATGATCA	0.398000														81			34		0	0	1	0	0
KIR2DL5B	553128	broad.mit.edu	37	GL000209.1	89561	89561	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrGL000209.1:89561C>T	uc002quk.1	+	3	501	c.446C>T	c.(445-447)tCa>tTa	p.S149L	KIR2DL2_uc002qtt.2_Intron|KIR2DL2_uc002qty.3_Intron|KIR2DL2_uc021vdb.1_Intron|KIR2DL2_uc010yie.2_Intron	NM_001018081	NP_001018091	Q8NHK4	Q8NHK4_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 5B (KIR2DL5B), mRNA.	149							receptor activity										TCCAGGAGCTCATTTGACATG	0.572000														11			25		0	0	1	0	0
C3orf23	285343	broad.mit.edu	37	3	44441973	44441973	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:44441973C>A	uc003cnd.4	+	8	1439	c.1012C>A	c.(1012-1014)Ctt>Att	p.L338I	C3orf23_uc010him.3_Missense_Mutation_p.L338I|C3orf23_uc003cne.4_Missense_Mutation_p.L194I	NM_173826	NP_776187	Q8N3R3	CC023_HUMAN	Homo sapiens chromosome 3 open reading frame 23 (C3orf23), transcript variant 1, mRNA.	338						mitochondrion				breast(2)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16				KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585)		AGTATTGACACTTGAAGAATA	0.343000														77			9		0.00448238	0.0046769	1	1	0
GPR161	23432	broad.mit.edu	37	1	168054973	168054973	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:168054973G>A	uc010pln.2	-	6	1980	c.1446C>T	c.(1444-1446)taC>taT	p.Y482Y	GPR161_uc001gfb.3_Silent_p.Y330Y|GPR161_uc001gfc.3_Silent_p.Y462Y|GPR161_uc010pll.2_Silent_p.Y372Y|GPR161_uc010plm.2_Silent_p.Y348Y|GPR161_uc009wvo.3_Silent_p.Y479Y|GPR161_uc001gfd.3_Silent_p.Y462Y	NM_153832	NP_722561	Q8N6U8	GP161_HUMAN	Homo sapiens G protein-coupled receptor 161 (GPR161), transcript variant 2, mRNA.	462					multicellular organismal development	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	all_hematologic(923;0.215)					AGCTTGCTGCGTAACTGTCCA	0.512000														36			16		0	0	1	0	0
S100A13	6284	broad.mit.edu	37	1	153598926	153598926	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:153598926T>G	uc001fcf.4	-	1	197	c.23A>C	c.(22-24)gAg>gCg	p.E8A	S100A13_uc001fcg.3_Missense_Mutation_p.E8A|S100A13_uc009woh.3_Missense_Mutation_p.E8A|S100A13_uc001fch.3_Missense_Mutation_p.E8A|S100A13_uc001fci.3_Missense_Mutation_p.E8A|S100A13_uc001fcj.3_Missense_Mutation_p.E8A|S100A1_uc001fck.1_5'Flank|S100A1_uc001fcl.1_5'Flank	NM_001024213	NP_005970	Q99584	S10AD_HUMAN	Homo sapiens S100 calcium binding protein A13 (S100A13), transcript variant 5, mRNA.	8					interleukin-1 alpha secretion|mast cell degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade	cytosol|extracellular space|nucleus|perinuclear region of cytoplasm	RAGE receptor binding|calcium ion binding|copper ion binding|fibroblast growth factor 1 binding|lipid binding|protein homodimerization activity|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(4)	7	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)		Amlexanox(DB01025)	CTCCTCTAGCTCTGTCAGTGG	0.557000														72			16		0	0	1	0	0
ELMO2	63916	broad.mit.edu	37	20	45000096	45000096	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:45000096G>A	uc010zxr.1	-	19	1942	c.1732C>T	c.(1732-1734)Cgg>Tgg	p.R578W	ELMO2_uc010zxq.1_Missense_Mutation_p.R298W|ELMO2_uc002xrs.1_Missense_Mutation_p.R313W|ELMO2_uc002xrt.1_Missense_Mutation_p.R566W|ELMO2_uc002xru.1_Missense_Mutation_p.R566W|ELMO2_uc010zxs.1_Missense_Mutation_p.R383W|ELMO2_uc002xrv.1_Missense_Mutation_p.R285W	NM_182764	NP_877496	Q96JJ3	ELMO2_HUMAN	Homo sapiens engulfment and cell motility 2 (ELMO2), transcript variant 2, mRNA.	566	PH.				apoptosis|cell chemotaxis|phagocytosis	cytoskeleton|cytosol|membrane	SH3 domain binding|lyase activity|receptor tyrosine kinase binding			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1)	16		Myeloproliferative disorder(115;0.0122)				TACCAGAACCGTTCTGGAACA	0.557000														30			26		0	0	1	0	0
FSCN1	6624	broad.mit.edu	37	7	5645040	5645040	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:5645040G>A	uc003sou.3	+	4	1549	c.1417G>A	c.(1417-1419)Gac>Aac	p.D473N	FSCN1_uc003sov.3_Missense_Mutation_p.D195N	NM_003088	NP_003079	Q16658	FSCN1_HUMAN	Homo sapiens fascin homolog 1, actin-bundling protein (Strongylocentrotus purpuratus) (FSCN1), mRNA.	473					actin filament bundle assembly|cell migration|cell proliferation	cell junction|cytoplasm|filopodium|invadopodium|stress fiber	actin filament binding|drug binding|protein binding, bridging			central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;1.21e-13)		CCTGAAGGGCGACCACGCAGG	0.667000														9			16		0	0	1	0	0
SLC1A2	6506	broad.mit.edu	37	11	35302462	35302462	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:35302462C>T	uc001mwd.3	-	8	1965	c.1373G>A	c.(1372-1374)gGc>gAc	p.G458D	SLC1A2_uc021qfx.1_Missense_Mutation_p.G449D|SLC1A2_uc001mwe.3_Missense_Mutation_p.G449D|SLC1A2_uc010rev.1_Missense_Mutation_p.G458D	NM_004171	NP_001239581	P43004	EAA2_HUMAN	Homo sapiens solute carrier family 1 (glial high affinity glutamate transporter), member 2 (SLC1A2), transcript variant 1, mRNA.	458					D-aspartate import|L-glutamate import|synaptic transmission	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|urinary_tract(1)	24	all_lung(20;0.211)|all_epithelial(35;0.234)	all_hematologic(20;0.109)	STAD - Stomach adenocarcinoma(6;0.00731)		L-Glutamic Acid(DB00142)	TGTTGGCAGGCCCACGGCTGT	0.617000														37			31		0	0	1	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18889718	18889718	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:18889718G>A	uc003zne.4	+	24	4767	c.4615G>A	c.(4615-4617)Gcg>Acg	p.A1539T	ADAMTSL1_uc003znf.4_Missense_Mutation_p.A240T	NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN	Homo sapiens ADAMTS-like 1 (ADAMTSL1), transcript variant 4, mRNA.	1539						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)		GCAGCCCATCGCGTGCAACCG	0.667000														11			9		0	0	1	0	0
ILF3	3609	broad.mit.edu	37	19	10782100	10782100	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10782100G>T	uc002mpn.3	+	3	617	c.300G>T	c.(298-300)aaG>aaT	p.K100N	ILF3_uc010xli.1_Intron|ILF3_uc002mpm.2_Missense_Mutation_p.K100N|ILF3_uc002mpl.2_Missense_Mutation_p.K100N|ILF3_uc002mpk.2_Missense_Mutation_p.K100N|ILF3_uc002mpo.3_Missense_Mutation_p.K100N	NM_012218	NP_036350	Q12906	ILF3_HUMAN	Homo sapiens interleukin enhancer binding factor 3, 90kDa (ILF3), transcript variant 1, mRNA.	100	DZF.				M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			TGGTGGCAAAGGGCCTCCTAC	0.617000														115			10		0.0692343	0.0703432	1	1	0
ZNF512B	57473	broad.mit.edu	37	20	62597978	62597978	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:62597978G>A	uc002yhl.1	-	4	604	c.550C>T	c.(550-552)Cgg>Tgg	p.R184W		NM_020713	NP_065764	Q96KM6	Z512B_HUMAN	Homo sapiens zinc finger protein 512B (ZNF512B), mRNA.	184					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					CCAACAGGCCGGCTGATGGTG	0.597000														43			30		0	0	1	0	0
SNX25	83891	broad.mit.edu	37	4	186283234	186283234	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:186283234G>A	uc003ixh.3	+	16	2505	c.2316G>A	c.(2314-2316)caG>caA	p.Q772Q	SNX25_uc010ish.3_Silent_p.Q488Q|SNX25_uc003ixi.3_Silent_p.Q276Q	NM_031953	NP_114159	Q9H3E2	SNX25_HUMAN	Homo sapiens sorting nexin 25 (SNX25), mRNA.	772					cell communication|protein transport	endosome membrane	phosphatidylinositol binding|signal transducer activity			NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2)	40		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)		AGAGAGCACAGCAAAAGCTGC	0.453000														10			9		0	0	1	0	0
CA5A	763	broad.mit.edu	37	16	87921777	87921777	+	Silent	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:87921777G>T	uc002fkn.1	-	6	932	c.876C>A	c.(874-876)gtC>gtA	p.V292V		NM_001739	NP_001730	P35218	CAH5A_HUMAN	Homo sapiens carbonic anhydrase VA, mitochondrial (CA5A), nuclear gene encoding mitochondrial protein, mRNA.	292					one-carbon metabolic process	mitochondrial matrix	carbonate dehydratase activity|zinc ion binding			large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(80;0.0513)		AGGACGCCCAGACCTTCCGGT	0.488000														59			5		0.000602214	0.000641151	1	1	0
ZRSR1	7310	broad.mit.edu	37	5	112228017	112228017	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:112228017C>T	uc021ycm.1	+	0	709	c.681C>T	c.(679-681)gaC>gaT	p.D227D	SRP19_uc011cvu.2_3'UTR|REEP5_uc011cvw.1_Intron|REEP5_uc003kqe.1_Intron|REEP5_uc011cvx.1_Intron|REEP5_uc011cvy.1_Intron|REEP5_uc011cvz.1_Intron					RecName: Full=U2 small nuclear ribonucleoprotein auxiliary factor 35 kDa subunit-related protein 1; AltName: Full=CCCH type zinc finger, RNA-binding motif and serine/arginine rich protein 1; AltName: Full=U2(RNU2) small nuclear RNA auxiliary factor 1-like 1;											breast(1)|skin(1)|stomach(2)	4						ATGACCCTGACGCAAGCCTGG	0.453000														53			31		0	0	1	0	0
NPR2	4882	broad.mit.edu	37	9	35792411	35792411	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:35792411G>A	uc003zyd.3	+	0	6	c.6G>A	c.(4-6)gcG>gcA	p.A2A	NPR2_uc010mlb.3_Silent_p.A2A	NM_003995	NP_003986	P20594	ANPRB_HUMAN	Homo sapiens natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B) (NPR2), mRNA.	2					intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure	integral to membrane|plasma membrane	GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	TCCCCATGGCGCTGCCATCAC	0.687000														11			9		0	0	1	0	0
PCDHB2	56133	broad.mit.edu	37	5	140475165	140475165	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140475165C>T	uc003lil.3	+	0	929	c.791C>T	c.(790-792)gCc>gTc	p.A264V	PCDHB2_uc003lim.1_5'UTR	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	Homo sapiens protocadherin beta 2 (PCDHB2), mRNA.	264	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCCCAGGTTGCCATCGTCTCT	0.468000														57			28		0	0	1	0	0
MAML3	55534	broad.mit.edu	37	4	140811770	140811770	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:140811770G>T	uc021xsg.1	-	1	1572	c.820C>A	c.(820-822)Ctc>Atc	p.L274I	MAML3_uc011chd.1_Intron	NM_018717	NP_061187	Q96JK9	MAML3_HUMAN	Homo sapiens mastermind-like 3 (Drosophila) (MAML3), mRNA.	274					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					TCTTGTTTGAGGTCTTTGCTC	0.423000														96			48		1.67753e-36	2.22467e-36	1	1	0
RPS4X	6191	broad.mit.edu	37	X	71494903	71494903	+	Splice_Site	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:71494903C>A	uc004ear.3	-	4	456	c.360_splice	c.e4+1	p.K120_splice	RPS4X_uc011mqb.2_Missense_Mutation_p.K120N	NM_001007	NP_000998	P62701	RS4X_HUMAN	Homo sapiens ribosomal protein S4, X-linked (RPS4X), mRNA.	120					endocrine pancreas development|positive regulation of cell proliferation|positive regulation of translation|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|polysome	rRNA binding|structural constituent of ribosome			NS(1)|large_intestine(1)	2	Renal(35;0.156)					CCACACTCACCTTGGCCTCCT	0.478000														14			9		2.17888e-05	2.40634e-05	1	1	0
ABCA9	10350	broad.mit.edu	37	17	67039765	67039765	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:67039765G>A	uc002jhu.3	-	5	808	c.665C>T	c.(664-666)gCa>gTa	p.A222V	ABCA9_uc010dez.3_Missense_Mutation_p.A222V|ABCA9_uc002jhv.3_Missense_Mutation_p.A222V	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 9 (ABCA9), mRNA.	222					transport	integral to membrane	ATP binding|ATPase activity	p.V221F(2)		NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					AAAATCAGTTGCAACTCCTCC	0.328000														42			25		0	0	1	0	0
ALDH4A1	8659	broad.mit.edu	37	1	19202874	19202874	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:19202874C>T	uc001bbb.3	-	11	1549	c.1273G>A	c.(1273-1275)Gtg>Atg	p.V425M	ALDH4A1_uc010ocu.2_Missense_Mutation_p.V365M|ALDH4A1_uc001bbc.3_Missense_Mutation_p.V425M|ALDH4A1_uc021ohl.1_Intron	NM_170726	NP_001154976	P30038	AL4A1_HUMAN	Homo sapiens aldehyde dehydrogenase 4 family, member A1 (ALDH4A1), nuclear gene encoding mitochondrial protein, transcript variant P5CDhS, mRNA.	425					proline biosynthetic process|proline catabolic process	mitochondrial matrix	1-pyrroline-5-carboxylate dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|electron carrier activity			cervix(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	NADH(DB00157)	AAGTAGCCCACGGAGTCATCA	0.637000														21			21		0	0	1	0	0
PPIEL	728448	broad.mit.edu	37	1	40007451	40007451	+	RNA	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:40007451C>T	uc001cdk.3	-	6		c.2242G>A								Homo sapiens peptidylprolyl isomerase E-like pseudogene (PPIEL), non-coding RNA.																		GGGGATAATGCGGTGGAAGCT	0.443000														5			5		0	0	1	0	0
TARBP2	6895	broad.mit.edu	37	12	53899497	53899497	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:53899497G>A	uc001sdo.3	+	7	1294	c.806G>A	c.(805-807)cGa>cAa	p.R269Q	TARBP2_uc001sdp.3_Missense_Mutation_p.R248Q|TARBP2_uc001sdr.3_Missense_Mutation_p.R125Q|TARBP2_uc001sdt.3_Missense_Mutation_p.R248Q	NM_134323	NP_599151	Q15633	TRBP2_HUMAN	Homo sapiens TAR (HIV-1) RNA binding protein 2 (TARBP2), transcript variant 1, mRNA.	269	Sufficient for interaction with DICER1.				miRNA loading onto RISC involved in gene silencing by miRNA|negative regulation of defense response to virus by host|negative regulation of protein kinase activity|positive regulation of viral genome replication|pre-miRNA processing|production of siRNA involved in RNA interference|regulation of transcription from RNA polymerase II promoter|regulation of translation|regulation of viral transcription|targeting of mRNA for destruction involved in RNA interference	RNA-induced silencing complex|cytosol|nucleus|perinuclear region of cytoplasm	double-stranded RNA binding|protein homodimerization activity|siRNA binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)	10						GATTCTCTACGAAATTCAGTA	0.602000														120			58		0	0	1	0	0
SP3	6670	broad.mit.edu	37	2	174819870	174819870	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:174819870G>T	uc002uig.3	-	3	1901	c.1370C>A	c.(1369-1371)cCt>cAt	p.P457H	SP3_uc002uie.3_Missense_Mutation_p.P389H|SP3_uc002uif.3_Missense_Mutation_p.P404H|SP3_uc010zel.2_Missense_Mutation_p.P454H	NM_003111	NP_003102	Q02447	SP3_HUMAN	Homo sapiens Sp3 transcription factor (SP3), transcript variant 1, mRNA.	457	Transactivation domain (Gln-rich).				negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	protein binding|zinc ion binding		EWSR1/SP3(3)	NS(2)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.185)			CTGTCCAGAAGGGGTCACTGT	0.433000														41			7		8.12818e-05	8.84769e-05	1	1	0
DCBLD2	131566	broad.mit.edu	37	3	98600529	98600529	+	Silent	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:98600529G>A	uc003dte.3	-	1	651	c.288C>T	c.(286-288)agC>agT	p.S96S	DCBLD2_uc003dtd.3_Silent_p.S96S|DCBLD2_uc003dtf.1_Non-coding_Transcript	NM_080927	NP_563615	Q96PD2	DCBD2_HUMAN	Homo sapiens discoidin, CUB and LCCL domain containing 2 (DCBLD2), mRNA.	96	CUB.				cell adhesion|intracellular receptor mediated signaling pathway|negative regulation of cell growth|wound healing	cell surface|integral to plasma membrane				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|stomach(2)	25						CACAAACAGTGCTGTTGGGAT	0.413000														91			53		0	0	1	0	0
GDF10	2662	broad.mit.edu	37	10	48429011	48429011	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:48429011G>A	uc001jfb.3	-	1	1303	c.875C>T	c.(874-876)gCg>gTg	p.A292V	GDF10_uc009xnp.3_Missense_Mutation_p.A291V|GDF10_uc009xnq.2_Missense_Mutation_p.A292V	NM_004962	NP_004953	P55107	BMP3B_HUMAN	Homo sapiens growth differentiation factor 10 (GDF10), mRNA.	292					growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity	p.A291D(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						AGTGGCCTGCGCGGCTCGGCG	0.726000														8			6		0	0	1	0	0
TNFRSF1B	7133	broad.mit.edu	37	1	12262066	12262066	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:12262066G>A	uc001att.3	+	8	1032	c.943G>A	c.(943-945)Gag>Aag	p.E315K	TNFRSF1B_uc001atu.3_Missense_Mutation_p.E120K|TNFRSF1B_uc009vnk.3_Non-coding_Transcript	NM_001066	NP_001057	P20333	TNR1B_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 1B (TNFRSF1B), mRNA.	315					apoptosis	extracellular region|integral to membrane|membrane raft|plasma membrane	tumor necrosis factor receptor activity			central_nervous_system(1)|liver(1)|lung(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	Ovarian(185;0.249)	Lung NSC(185;8.72e-05)|all_lung(284;9.92e-05)|Renal(390;0.000147)|Colorectal(325;0.000584)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;5.52e-07)|COAD - Colon adenocarcinoma(227;0.000345)|BRCA - Breast invasive adenocarcinoma(304;0.000353)|Kidney(185;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00302)|STAD - Stomach adenocarcinoma(313;0.00815)|READ - Rectum adenocarcinoma(331;0.0284)	Etanercept(DB00005)|Infliximab(DB00065)	ACAGGGCCCCGAGCAGCAGCA	0.667000														9			9		0	0	1	0	0
NR6A1	2649	broad.mit.edu	37	9	127298239	127298239	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:127298239G>T	uc004bor.1	-	6	1175	c.997C>A	c.(997-999)Ctc>Atc	p.L333I	NR6A1_uc004boq.1_Missense_Mutation_p.L328I|NR6A1_uc010mwq.1_Missense_Mutation_p.L329I	NM_033334	NP_201591	Q15406	NR6A1_HUMAN	Homo sapiens nuclear receptor subfamily 6, group A, member 1 (NR6A1), transcript variant 1, mRNA.	333					cell proliferation|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis	transcription factor complex	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			NS(1)|breast(1)|cervix(1)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	17						TAAACGGTGAGGGAAGACAGC	0.532000														82			10		2.74318e-10	3.3084e-10	1	1	0
LRP1B	53353	broad.mit.edu	37	2	141460049	141460049	+	Missense_Mutation	SNP	C	T	T	rs144546789	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:141460049C>T	uc002tvj.1	-	37	7069	c.6097G>A	c.(6097-6099)Gtc>Atc	p.V2033I		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	2033					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CTTACAAGGACAACCTTCTCT	0.428000										TSP Lung(27;0.18)				41			22		0	0	1	0	0
TNRC6B	23112	broad.mit.edu	37	22	40661037	40661037	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:40661037T>C	uc011aor.2	+	4	1014	c.803T>C	c.(802-804)gTt>gCt	p.V268A	TNRC6B_uc003aym.3_Intron|TNRC6B_uc003ayn.4_Missense_Mutation_p.V268A|TNRC6B_uc003ayo.3_Missense_Mutation_p.V72A	NM_001162501	NP_001155973	Q9UPQ9	TNR6B_HUMAN	Homo sapiens trinucleotide repeat containing 6B (TNRC6B), transcript variant 1, mRNA.	268					gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	RNA binding|nucleotide binding			breast(1)	1						GCTAAATCTGTTCAATCTTCC	0.458000														55			9		0	0	1	0	0
RSPRY1	89970	broad.mit.edu	37	16	57238868	57238868	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:57238868G>A	uc002elb.3	+	1	576	c.298G>A	c.(298-300)Gtg>Atg	p.V100M	RSPRY1_uc002elc.3_Missense_Mutation_p.V100M|RSPRY1_uc002eld.3_Missense_Mutation_p.V100M|RSPRY1_uc002ele.1_Missense_Mutation_p.V100M	NM_133368	NP_588609	Q96DX4	RSPRY_HUMAN	Homo sapiens ring finger and SPRY domain containing 1 (RSPRY1), mRNA.	100						extracellular region	zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3)	27						GAAACAAAATGTGGATGGGCT	0.517000														26			17		0	0	1	0	0
CCPG1	9236	broad.mit.edu	37	15	55652430	55652430	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:55652430G>A	uc010bfk.2	-	7	1840	c.1541C>T	c.(1540-1542)gCt>gTt	p.A514V	CCPG1_uc002acy.3_Missense_Mutation_p.A514V|CCPG1_uc002acu.2_Missense_Mutation_p.A370V|CCPG1_uc002acz.2_Missense_Mutation_p.A514V|CCPG1_uc002acw.2_Missense_Mutation_p.A239V|CCPG1_uc002acx.3_Intron|CCPG1_uc002acv.2_Missense_Mutation_p.A514V|CCPG1_uc021smu.1_Missense_Mutation_p.A134V	NM_001204450	NP_001191379	Q9ULG6	CCPG1_HUMAN	Homo sapiens cell cycle progression 1 (CCPG1), transcript variant 3, mRNA.	514					cell cycle	integral to membrane				autonomic_ganglia(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|stomach(3)	30				all cancers(107;0.0354)		AGCTTCTTTAGCCTGCTTAAT	0.333000														200			19		0	0	1	0	0
CUL7	9820	broad.mit.edu	37	6	43006088	43006088	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:43006088G>A	uc003otq.3	-	24	5022	c.4690C>T	c.(4690-4692)Cgg>Tgg	p.R1564W	CUL7_uc010jyg.3_Missense_Mutation_p.R843W|CUL7_uc011dvb.2_Missense_Mutation_p.R1648W|KLC4_uc003otr.1_5'Flank	NM_014780	NP_055595	Q14999	CUL7_HUMAN	Homo sapiens cullin 7 (CUL7), transcript variant 2, mRNA.	1564					interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			AGAAGATTCCGTCTCTTCTCC	0.572000														31			13		0	0	1	0	0
PITPNM2	57605	broad.mit.edu	37	12	123477114	123477114	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:123477114G>T	uc001uej.1	-	14	2535	c.2336C>A	c.(2335-2337)gCc>gAc	p.A779D	PITPNM2_uc001uek.1_Missense_Mutation_p.A779D	NM_020845	NP_065896	Q9BZ72	PITM2_HUMAN	Homo sapiens phosphatidylinositol transfer protein, membrane-associated 2 (PITPNM2), mRNA.	779	DDHD.				metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		AGGCGGCAGGGCGTGAAAGCG	0.682000														40			7		2.0095e-06	2.27092e-06	1	1	0
NUP153	9972	broad.mit.edu	37	6	17706523	17706523	+	Silent	SNP	C	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:17706523C>T	uc003ncd.1	-	0	296	c.96G>A	c.(94-96)ggG>ggA	p.G32G	NUP153_uc011dje.1_Silent_p.G32G|NUP153_uc010jpl.1_Silent_p.G32G	NM_005124	NP_005115	P49790	NU153_HUMAN	Homo sapiens nucleoporin 153kDa (NUP153), mRNA.	32					carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			GCTGTTGTCGCCCCTGCTGGT	0.726000														16			7		0	0	1	0	0
KCMF1	56888	broad.mit.edu	37	2	85280333	85280333	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:85280333G>A	uc002sox.4	+	6	1291	c.947G>A	c.(946-948)cGc>cAc	p.R316H		NM_020122	NP_064507	Q9P0J7	KCMF1_HUMAN	Homo sapiens potassium channel modulatory factor 1 (KCMF1), mRNA.	316						intracellular	ligase activity|zinc ion binding			ovary(3)	3						CGTGCAGACCGCAGCCTGTTT	0.468000														16			11		0	0	1	0	0
MTR	4548	broad.mit.edu	37	1	237044082	237044082	+	Silent	SNP	G	A	A	rs141919148	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:237044082G>A	uc001hyi.4	+	24	3045	c.2622G>A	c.(2620-2622)ccG>ccA	p.P874P	MTR_uc010pxw.2_Silent_p.P467P|MTR_uc010pxx.2_Silent_p.P823P|MTR_uc010pxy.2_Silent_p.P728P	NM_000254	NP_000245	Q99707	METH_HUMAN	Homo sapiens 5-methyltetrahydrofolate-homocysteine methyltransferase (MTR), mRNA.	874	B12-binding.				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	AAATAGCTCCGAGATACAGTG	0.443000														29			24		0	0	1	0	0
SMARCAD1	56916	broad.mit.edu	37	4	95173878	95173878	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:95173878T>C	uc003htb.4	+	8	1178	c.1001T>C	c.(1000-1002)aTg>aCg	p.M334T	SMARCAD1_uc003htc.4_Missense_Mutation_p.M334T|SMARCAD1_uc003htd.4_Missense_Mutation_p.M334T|SMARCAD1_uc010ila.3_Missense_Mutation_p.M197T|SMARCAD1_uc011cdw.2_5'Flank	NM_001128430	NP_001121902	Q9H4L7	SMRCD_HUMAN	Homo sapiens SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1 (SMARCAD1), transcript variant 2, mRNA.	334					chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		AAATTTTCAATGAAAGCACAA	0.308000														16			6		0	0	1	0	0
CROCCP3	114819	broad.mit.edu	37	1	16810883	16810883	+	RNA	SNP	G	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:16810883G>A	uc001ays.2	-	5		c.584C>T			CROCCP3_uc001ayt.2_Non-coding_Transcript					Homo sapiens ciliary rootlet coiled-coil, rootletin pseudogene 3 (CROCCP3), non-coding RNA.																		GAGAGCCCCCGCAGGCTGCCG	0.746000														4			3		0	0	1	0	0
GOLGA6L1	283767	broad.mit.edu	37	15	23412173	23412173	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:23412173G>T	uc010uab.1	-	1	177	c.152C>A	c.(151-153)tCt>tAt	p.S51Y		NM_001001413	NP_001001413			Homo sapiens golgin A6 family-like 1 (GOLGA6L1), mRNA.											NS(1)|breast(2)|endometrium(5)|large_intestine(1)|lung(1)|skin(1)	11						GCAACCACCAGAAGTGGTTGT	0.532000														30			21		1.10923e-09	1.32579e-09	1	1	0
ZNF347	84671	broad.mit.edu	37	19	53644945	53644945	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:53644945C>A	uc002qbc.2	-	4	1566	c.1139G>T	c.(1138-1140)gGg>gTg	p.G380V	ZNF347_uc002qbb.2_Missense_Mutation_p.G379V|ZNF347_uc010eql.2_Missense_Mutation_p.G380V	NM_001172674	NP_001166146	Q96SE7	ZN347_HUMAN	Homo sapiens zinc finger protein 347 (ZNF347), transcript variant 1, mRNA.	379					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		AAAGGCTTTCCCACACTCATT	0.418000														89			9		2.17888e-05	2.40634e-05	1	1	0
TMEM62	80021	broad.mit.edu	37	15	43444011	43444011	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:43444011A>G	uc001zqr.3	+	7	1169	c.890A>G	c.(889-891)cAc>cGc	p.H297R	TMEM62_uc010bda.3_Missense_Mutation_p.H167R	NM_024956	NP_079232	Q0P6H9	TMM62_HUMAN	Homo sapiens transmembrane protein 62 (TMEM62), mRNA.	297						integral to membrane				breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		all_cancers(109;1.16e-10)|all_epithelial(112;2.01e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;4.23e-07)		GCTTTTGATCACGACCTCTTT	0.373000														137			21		0	0	1	0	0
PHF13	148479	broad.mit.edu	37	1	6680296	6680297	+	Frame_Shift_Ins	INS	-	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:6680296_6680297insA	uc001aob.4	+	2	946_947	c.575_576insA	c.(574-576)atafs	p.I192fs		NM_153812	NP_722519	Q86YI8	PHF13_HUMAN	Homo sapiens PHD finger protein 13 (PHF13), mRNA.	192					cell division|chromatin modification|mitotic chromosome condensation	nucleoplasm	chromatin binding|methylated histone residue binding|zinc ion binding			endometrium(3)|large_intestine(1)|lung(3)	7	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;1.46e-33)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.19e-07)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|STAD - Stomach adenocarcinoma(132;0.0165)|READ - Rectum adenocarcinoma(331;0.0642)		GTCAAAGAAATAAAAACTGAAG	0.554													---	23	---	---	11	---					
ZC3H12A	80149	broad.mit.edu	37	1	37941142	37941143	+	Frame_Shift_Ins	INS	-	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:37941142_37941143insA	uc001cbb.4	+	1	195_196	c.45_46insA	c.(43-48)cccaccfs	p.P15fs	LOC728431_uc021olm.1_5'Flank	NM_025079	NP_079355	Q5D1E8	ZC12A_HUMAN	Homo sapiens zinc finger CCCH-type containing 12A (ZC3H12A), mRNA.	15					angiogenesis|apoptosis|cell differentiation	cytoplasm|nucleus|plasma membrane	endonuclease activity|metal ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				AAGCCAGCCCCACCATGAGTCT	0.634													---	67	---	---	37	---					
LRRC41	10489	broad.mit.edu	37	1	46751494	46751495	+	Frame_Shift_Ins	INS	-	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:46751494_46751495insG	uc001cpn.3	-	3	1078_1079	c.1034_1035insC	c.(1033-1035)ccafs	p.P345fs	LRRC41_uc010omb.2_Frame_Shift_Ins_p.P345fs|LRRC41_uc001cpo.1_Frame_Shift_Ins_p.P345fs	NM_006369	NP_006360	Q15345	LRC41_HUMAN	Homo sapiens leucine rich repeat containing 41 (LRRC41), mRNA.	345										breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					GGGAGGTGGCTGGGGGGTGCAG	0.619													---	49	---	---	18	---					
DOCK7	85440	broad.mit.edu	37	1	62941476	62941477	+	Frame_Shift_Ins	INS	-	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:62941476_62941477insA	uc001daq.3	-	44	5863_5864	c.5829_5830insT	c.(5827-5832)catgggfs	p.H1943fs	DOCK7_uc001dan.3_Frame_Shift_Ins_p.H1806fs|DOCK7_uc001dao.3_Frame_Shift_Ins_p.H1804fs|DOCK7_uc001dap.3_Frame_Shift_Ins_p.H1923fs|DOCK7_uc001dam.3_Frame_Shift_Ins_p.H1125fs|DOCK7_uc010oov.1_Frame_Shift_Ins_p.H684fs|DOCK7_uc001dar.1_Frame_Shift_Ins_p.H117fs	NM_033407	NP_212132	Q96N67	DOCK7_HUMAN	Homo sapiens dedicator of cytokinesis 7 (DOCK7), mRNA.	1954	DHR-2.				activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|Rac GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						TGAAGTTCCCCATGGGCACGGC	0.391													---	150	---	---	18	---					
RAVER2	55225	broad.mit.edu	37	1	65296646	65296647	+	Frame_Shift_Ins	INS	-	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:65296646_65296647insA	uc001dbt.2	+	9	1738_1739	c.1691_1692insA	c.(1690-1692)ttafs	p.L564fs	RAVER2_uc001dbs.2_Frame_Shift_Ins_p.L672fs|RAVER2_uc010opb.2_Frame_Shift_Ins_p.L397fs	NM_018211	NP_060681	Q9HCJ3	RAVR2_HUMAN	Homo sapiens ribonucleoprotein, PTB-binding 2 (RAVER2), mRNA.	685						cytoplasm|nucleus	RNA binding|nucleotide binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						GAAACTTACTTAAAAAAGAAGC	0.446													---	142	---	---	9	---					
TYW3	127253	broad.mit.edu	37	1	75229674	75229675	+	Frame_Shift_Ins	INS	-	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:75229674_75229675insA	uc001dgn.3	+	5	750_751	c.657_658insA	c.(655-660)aagaaafs	p.K219fs	TYW3_uc010oqw.2_Frame_Shift_Ins_p.K186fs|TYW3_uc010oqx.2_Frame_Shift_Ins_p.K135fs|TYW3_uc010oqy.2_Non-coding_Transcript	NM_138467	NP_612476	Q6IPR3	TYW3_HUMAN	Homo sapiens tRNA-yW synthesizing protein 3 homolog (S. cerevisiae) (TYW3), transcript variant 1, mRNA.	219					tRNA processing		methyltransferase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|ovary(2)|prostate(1)|skin(1)	15						ATATTCATAAGAAAAAAAGAAA	0.342													---	60	---	---	30	---					
ST6GALNAC3	256435	broad.mit.edu	37	1	76877904	76877905	+	Frame_Shift_Ins	INS	-	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:76877904_76877905insT	uc001dhh.2	+	2	588_589	c.425_426insT	c.(424-426)tatfs	p.Y142fs	ST6GALNAC3_uc001dhg.4_Frame_Shift_Ins_p.Y142fs|ST6GALNAC3_uc010orh.1_Frame_Shift_Ins_p.Y77fs	NM_152996	NP_694541	Q8NDV1	SIA7C_HUMAN	Homo sapiens ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1, 3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3 (ST6GALNAC3), transcript variant 1, mRNA.	142					protein glycosylation	integral to Golgi membrane	sialyltransferase activity	p.Y142H(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						AACCCTGATTATTTTTTCAAGG	0.411													---	119	---	---	32	---					
PTGFR	5737	broad.mit.edu	37	1	78958518	78958519	+	Frame_Shift_Ins	INS	-	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:78958518_78958519insT	uc001din.3	+	1	356_357	c.90_91insT	c.(88-93)gtatttfs	p.V30fs	PTGFR_uc001dim.3_Frame_Shift_Ins_p.V30fs	NM_000959	NP_000950	P43088	PF2R_HUMAN	Homo sapiens prostaglandin F receptor (FP) (PTGFR), transcript variant 1, mRNA.	30					parturition	extracellular region|integral to plasma membrane	prostaglandin F receptor activity	p.S29F(1)		breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287)	GGCTTTCCGTATTTTTTTCAGT	0.450													---	96	---	---	27	---					
IFI44	10561	broad.mit.edu	37	1	79116271	79116272	+	Frame_Shift_Ins	INS	-	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:79116271_79116272insA	uc001dip.4	+	1	515_516	c.391_392insA	c.(391-393)gaafs	p.E131fs	IFI44_uc010orr.1_Frame_Shift_Ins_p.E131fs|IFI44_uc010ors.1_Intron	NM_006417	NP_006408	Q8TCB0	IFI44_HUMAN	Homo sapiens interferon-induced protein 44 (IFI44), mRNA.	131					response to virus	cytoplasm				central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21						AAAGACAATGGAAAATCTTGGA	0.327													---	113	---	---	41	---					
EVI5	7813	broad.mit.edu	37	1	93159366	93159366	+	Frame_Shift_Del	DEL	T	-	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:93159366delT	uc010otf.2	-	8	1232	c.1222delA	c.(1222-1224)atgfs	p.M408fs	EVI5_uc001dox.3_Frame_Shift_Del_p.M408fs|EVI5_uc001doy.1_Non-coding_Transcript	NM_005665	NP_005656	O60447	EVI5_HUMAN	Homo sapiens ecotropic viral integration site 5 (EVI5), mRNA.	408	Dimerization.|Interaction with alpha-tubulin, gamma- tubulin, BIRC5 and FBXO5.|Targeting to the centrosomes.				cell cycle|cell division|cell proliferation|multicellular organismal development	microtubule organizing center|nucleus|spindle	Rab GTPase activator activity|protein binding	p.K407T(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1)	38		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)		TACTTTTTCATTTTTTTTGAA	0.318													---	126	---	---	40	---					
CDC14A	8556	broad.mit.edu	37	1	100889837	100889837	+	Frame_Shift_Del	DEL	C	-	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:100889837delC	uc001dtf.2	+	4	857	c.369delC	c.(367-369)aacfs	p.N123fs	CDC14A_uc009web.2_Non-coding_Transcript|CDC14A_uc010oui.1_Frame_Shift_Del_p.N65fs|CDC14A_uc001dte.4_Frame_Shift_Del_p.N123fs|CDC14A_uc009wed.1_5'UTR|CDC14A_uc001dtg.4_Frame_Shift_Del_p.N123fs|CDC14A_uc009wee.3_Frame_Shift_Del_p.N123fs	NM_033312	NP_201569	Q9UNH5	CC14A_HUMAN	Homo sapiens CDC14 cell division cycle 14 homolog A (S. cerevisiae) (CDC14A), transcript variant 2, mRNA.	123	A.				cell cycle|cell division|cell proliferation	centrosome|nucleus|spindle	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(5)|kidney(6)|large_intestine(6)|lung(10)|skin(2)|urinary_tract(1)	31		all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001)		Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241)		CTGGCTCAAACCCCCCCTATC	0.403													---	142	---	---	7	---					
C1orf162	128346	broad.mit.edu	37	1	112019956	112019957	+	Splice_Site	INS	-	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:112019956_112019957insA	uc001ebe.3	+	4	168	c.108_splice	c.e4-1	p.N36_splice		NM_174896	NP_777556	Q8NEQ5	CA162_HUMAN	Homo sapiens chromosome 1 open reading frame 162 (C1orf162), mRNA.	36						integral to membrane				NS(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	5		all_cancers(81;0.00116)|all_epithelial(167;0.000761)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0236)|Colorectal(144;0.0286)|all cancers(265;0.0572)|Epithelial(280;0.0862)|COAD - Colon adenocarcinoma(174;0.112)|LUSC - Lung squamous cell carcinoma(189;0.134)		GCCAAAACAGCAAAAAACATTT	0.431													---	40	---	---	31	---					
WARS2	10352	broad.mit.edu	37	1	119618995	119618996	+	Frame_Shift_Ins	INS	-	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:119618995_119618996insT	uc001ehn.3	-	1	353_354	c.325_326insA	c.(325-327)agcfs	p.S109fs	WARS2_uc010oxf.2_Frame_Shift_Ins_p.S15fs|WARS2_uc001ehm.3_Frame_Shift_Ins_p.S109fs|WARS2_uc010oxg.2_Intron|WARS2_uc010oxh.2_Frame_Shift_Ins_p.S109fs|WARS2_uc010oxi.2_Frame_Shift_Ins_p.S15fs	NM_015836	NP_056651	Q9UGM6	SYWM_HUMAN	Homo sapiens tryptophanyl tRNA synthetase 2, mitochondrial (WARS2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	109					tryptophanyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|tryptophan-tRNA ligase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(2)	15	all_neural(166;0.187)	all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564)		Lung(183;0.0629)	L-Tryptophan(DB00150)	GAAAAGGATGCTTTTTTCCGGG	0.446													---	79	---	---	50	---					
ADAM30	11085	broad.mit.edu	37	1	120438116	120438116	+	Frame_Shift_Del	DEL	T	-	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:120438116delT	uc001eij.3	-	0	1032	c.844delA	c.(844-846)agtfs	p.S282fs		NM_021794	NP_068566	Q9UKF2	ADA30_HUMAN	Homo sapiens ADAM metallopeptidase domain 30 (ADAM30), mRNA.	282	Peptidase M12B.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		TTTAATACACTTTTTTTATAT	0.343													---	61	---	---	12	---					
S100A7	6278	broad.mit.edu	37	1	153430402	153430403	+	Frame_Shift_Ins	INS	-	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:153430402_153430403insT	uc001fbv.1	-	2	256_257	c.185_186insA	c.(184-186)aagfs	p.K62fs		NM_002963	NP_002954	P31151	S10A7_HUMAN	Homo sapiens S100 calcium binding protein A7 (S100A7), mRNA.	62	EF-hand 2.				angiogenesis|defense response to Gram-negative bacterium|innate immune response|keratinocyte differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of T cell chemotaxis|positive regulation of granulocyte chemotaxis|positive regulation of monocyte chemotaxis|response to lipopolysaccharide|response to reactive oxygen species|sequestering of metal ion	cytosol|endoplasmic reticulum|extracellular region|focal adhesion|nucleus	RAGE receptor binding|calcium ion binding|zinc ion binding			breast(1)|large_intestine(2)|lung(5)|skin(2)	10	all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			CATTCTTGTCCTTTTTCTCAAA	0.416													---	74	---	---	50	---					
ASH1L	55870	broad.mit.edu	37	1	155349914	155349915	+	Frame_Shift_Ins	INS	-	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155349914_155349915insA	uc009wqq.3	-	7	6591_6592	c.6111_6112insT	c.(6109-6114)tttgttfs	p.F2037fs	ASH1L_uc001fkt.3_Intron	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	Homo sapiens ash1 (absent, small, or homeotic)-like (Drosophila) (ASH1L), mRNA.	2037					DNA packaging|cell-cell signaling|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|chromosome|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			TTTCCTGAAACAAAAAACACTA	0.322													---	58	---	---	21	---					
IFI16	3428	broad.mit.edu	37	1	158984476	158984476	+	Frame_Shift_Del	DEL	A	-	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:158984476delA	uc001ftg.3	+	1	296	c.6delA	c.(4-6)ggafs	p.G2fs	IFI16_uc010pis.2_Frame_Shift_Del_p.G2fs|IFI16_uc010pit.2_Frame_Shift_Del_p.G2fs|IFI16_uc001ftf.1_Frame_Shift_Del_p.G2fs	NM_005531	NP_005522	Q16666	IF16_HUMAN	Homo sapiens interferon, gamma-inducible protein 16 (IFI16), transcript variant 2, mRNA.	2	DAPIN.|Lys-rich.				DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|cell proliferation|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	cytoplasm|nuclear speck|nucleolus	double-stranded DNA binding|protein binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0429)					TAAAGATGGGAAAAAAATACA	0.313													---	64	---	---	11	---					
ARHGAP30	257106	broad.mit.edu	37	1	161018566	161018567	+	Frame_Shift_Ins	INS	-	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:161018566_161018567insT	uc001fxl.3	-	11	2590_2591	c.2244_2245insA	c.(2242-2247)aaagaafs	p.K748fs	USF1_uc001fxj.3_5'Flank|USF1_uc001fxi.3_5'Flank|ARHGAP30_uc001fxk.3_Intron|ARHGAP30_uc001fxm.3_Frame_Shift_Ins_p.K594fs|ARHGAP30_uc009wtx.3_Frame_Shift_Ins_p.K421fs	NM_001025598	NP_001020769	Q7Z6I6	RHG30_HUMAN	Homo sapiens Rho GTPase activating protein 30 (ARHGAP30), transcript variant 1, mRNA.	748	Glu-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			CTCTCAATTTCTTTTTCCTTCT	0.485													---	195	---	---	81	---					
PAPPA2	60676	broad.mit.edu	37	1	176708801	176708802	+	Frame_Shift_Ins	INS	-	T	T	rs75317943		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:176708801_176708802insT	uc001gkz.3	+	12	5002_5003	c.3838_3839insT	c.(3838-3840)attfs	p.I1280fs	PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	1280					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						AGCAATTTTTATTTTTTTGACA	0.446													---	73	---	---	38	---					
SWT1	54823	broad.mit.edu	37	1	185143874	185143875	+	Frame_Shift_Ins	INS	-	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:185143874_185143875insA	uc001grg.4	+	4	709_710	c.595_596insA	c.(595-597)gaafs	p.E199fs	SWT1_uc001grh.4_Frame_Shift_Ins_p.E199fs	NM_001105518	NP_060143	Q5T5J6	SWT1_HUMAN	Homo sapiens SWT1 RNA endoribonuclease homolog (S. cerevisiae) (SWT1), transcript variant 2, mRNA.	199										breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1)	41						AGACAATTCTGAAAAATGTGTC	0.347													---	64	---	---	25	---					
HMCN1	83872	broad.mit.edu	37	1	186031667	186031667	+	Frame_Shift_Del	DEL	A	-	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:186031667delA	uc001grq.1	+	47	7677	c.7448delA	c.(7447-7449)gaafs	p.E2483fs	MIR548F1_uc021pgf.1_Intron	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	2483	Ig-like C2-type 23.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						ATTGTGGGTGAAAATACATTG	0.378													---	60	---	---	34	---					
PTGS2	5743	broad.mit.edu	37	1	186645975	186645976	+	Frame_Shift_Ins	INS	-	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:186645975_186645976insT	uc001gsb.3	-	5	849_850	c.712_713insA	c.(712-714)atgfs	p.M238fs	PTGS2_uc009wyo.3_Frame_Shift_Ins_p.M85fs	NM_000963	NP_000954	P35354	PGH2_HUMAN	Homo sapiens prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) (PTGS2), mRNA.	238					cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus	enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580)|gamma-Homolinolenic acid(DB00154)	CTGATATTTCATTTTTCCATCC	0.312													---	416	---	---	7	---					
KDM5B	10765	broad.mit.edu	37	1	202724582	202724583	+	Splice_Site	INS	-	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:202724582_202724583insA	uc009xag.3	-	12	1581	c.1465_splice	c.e12-1	p.E489_splice	KDM5B_uc001gyf.3_Splice_Site_p.E453_splice|KDM5B_uc001gyg.1_Splice_Site_p.E295_splice	NM_006618	NP_006609	Q9UGL1	KDM5B_HUMAN	Homo sapiens lysine (K)-specific demethylase 5B (KDM5B), mRNA.	453	JmjC.				negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						AAGATACTCCTAAAAATAAGAA	0.347													---	90	---	---	37	---					
ZC3H11A	9877	broad.mit.edu	37	1	203819706	203819707	+	Frame_Shift_Ins	INS	-	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:203819706_203819707insA	uc001hac.3	+	17	2619_2620	c.2003_2004insA	c.(2002-2004)ccafs	p.P668fs	ZC3H11A_uc001had.3_Frame_Shift_Ins_p.P668fs|ZC3H11A_uc001hae.3_Frame_Shift_Ins_p.P668fs|ZC3H11A_uc001haf.3_Frame_Shift_Ins_p.P668fs|ZC3H11A_uc010pqm.2_Frame_Shift_Ins_p.P614fs	NM_014827	NP_055642	O75152	ZC11A_HUMAN	Homo sapiens zinc finger CCCH-type containing 11A (ZC3H11A), mRNA.	668							nucleic acid binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			AAATTGGCCCCAAAACGTAAGG	0.505													---	95	---	---	44	---					
SOX13	9580	broad.mit.edu	37	1	204082240	204082241	+	Frame_Shift_Ins	INS	-	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:204082240_204082241insT	uc001ham.3	+	1	792_793	c.197_198insT	c.(196-198)cagfs	p.Q66fs	SOX13_uc001hal.3_Frame_Shift_Ins_p.Q66fs|SOX13_uc010pqp.2_Frame_Shift_Ins_p.Q66fs|SOX13_uc010pqq.2_5'Flank	NM_005686	NP_005677	Q9UN79	SOX13_HUMAN	Homo sapiens SRY (sex determining region Y)-box 13 (SOX13), mRNA.	66					anatomical structure morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	13	all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			GCTCCAGCCCAGGGGAATTTCA	0.688													---	4	---	---	4	---					
PGBD2	267002	broad.mit.edu	37	1	249211828	249211828	+	Frame_Shift_Del	DEL	T	-	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:249211828delT	uc001ifh.3	+	2	1192	c.1045delT	c.(1045-1047)tttfs	p.F349fs	PGBD2_uc001ifg.3_Frame_Shift_Del_p.F98fs|PGBD2_uc009xhd.3_Frame_Shift_Del_p.F346fs|PGBD2_uc021pmh.1_Frame_Shift_Del_p.F98fs	NM_170725	NP_001017434	Q6P3X8	PGBD2_HUMAN	Homo sapiens piggyBac transposable element derived 2 (PGBD2), transcript variant 1, mRNA.	349										NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			ATATCACATATTTTTTGACAA	0.438													---	165	---	---	18	---					
MSH2	4436	broad.mit.edu	37	2	47643491	47643492	+	Frame_Shift_Ins	INS	-	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:47643491_47643492insA	uc002rvy.1	+	5	1067_1068	c.999_1000insA	c.(997-1002)tgtaaafs	p.C333fs	MSH2_uc010yoh.1_Frame_Shift_Ins_p.C267fs|MSH2_uc002rvz.3_Frame_Shift_Ins_p.C333fs|MSH2_uc010fbg.2_Frame_Shift_Ins_p.C143fs	NM_000251	NP_000242	P43246	MSH2_HUMAN	Homo sapiens mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli) (MSH2), mRNA.	333			C -> Y (in HNPCC1; affects protein stability; associated with an absence of the protein in tumors).		B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes	MutSalpha complex|MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|Y-form DNA binding|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding	p.0?(2)|p.?(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1)	112		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TGAATAAGTGTAAAACCCCTCA	0.391			"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian"""	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				---	130	---	---	16	---					
PSME4	23198	broad.mit.edu	37	2	54167139	54167140	+	Splice_Site	INS	-	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:54167139_54167140insG	uc002rxp.2	-	4	557	c.501_splice	c.e4-1	p.N167_splice	PSME4_uc010yop.1_Splice_Site_p.N53_splice|PSME4_uc010yoq.1_Splice_Site|PSME4_uc010fbu.1_Splice_Site|PSME4_uc010fbv.1_Intron|PSME4_uc021vho.1_Intron	NM_014614	NP_055429	Q14997	PSME4_HUMAN	Homo sapiens proteasome (prosome, macropain) activator subunit 4 (PSME4), mRNA.	167					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding	p.?(1)		breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			TCTACAGAACTGGGGGGGGAAA	0.347													---	109	---	---	48	---					
USP34	9736	broad.mit.edu	37	2	61633019	61633020	+	Frame_Shift_Ins	INS	-	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:61633019_61633020insT	uc002sbe.3	-	2	397_398	c.375_376insA	c.(373-378)aaatcafs	p.K125fs		NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	Homo sapiens ubiquitin specific peptidase 34 (USP34), mRNA.	125					Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			GTAGAGTTTGATTTTTTTTCTA	0.347													---	58	---	---	34	---					
TPRKB	51002	broad.mit.edu	37	2	73957782	73957783	+	Frame_Shift_Ins	INS	-	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:73957782_73957783insT	uc002sjn.2	-	3	456_457	c.345_346insA	c.(343-348)aaacaafs	p.K115fs	TPRKB_uc002sjm.2_Frame_Shift_Ins_p.K154fs|TPRKB_uc002sjl.2_Frame_Shift_Ins_p.K82fs|TPRKB_uc002sjo.2_Frame_Shift_Ins_p.K115fs|TPRKB_uc010yrm.1_Frame_Shift_Ins_p.K82fs	NM_016058	NP_057142	Q9Y3C4	TPRKB_HUMAN	Homo sapiens TP53RK binding protein (TPRKB), mRNA.	115					protein catabolic process	cytosol|nucleus	protein kinase binding			lung(2)|ovary(1)|skin(1)	4						TGATTTATTTGTTTTTCTCCCT	0.292													---	59	---	---	22	---					
MRPS5	64969	broad.mit.edu	37	2	95775727	95775728	+	Frame_Shift_Ins	INS	-	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:95775727_95775728insT	uc002sub.3	-	3	554_555	c.336_337insA	c.(334-339)aaaggafs	p.K112fs	MRPS5_uc002suc.3_Non-coding_Transcript|MRPS5_uc010yud.1_Frame_Shift_Ins_p.K112fs	NM_031902	NP_114108	P82675	RT05_HUMAN	Homo sapiens mitochondrial ribosomal protein S5 (MRPS5), nuclear gene encoding mitochondrial protein, mRNA.	112					translation	mitochondrion|ribosome	RNA binding|protein binding|structural constituent of ribosome			central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						TTGCCTCTTCCTTTTTTTGCTC	0.381													---	94	---	---	48	---					
BUB1	699	broad.mit.edu	37	2	111399019	111399019	+	Frame_Shift_Del	DEL	T	-	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:111399019delT	uc002tgc.3	-	21	2760	c.2648delA	c.(2647-2649)aatfs	p.N883fs	BUB1_uc010yxh.2_Frame_Shift_Del_p.N863fs|BUB1_uc010fkb.3_Intron	NM_004336	NP_004327	O43683	BUB1_HUMAN	Homo sapiens budding uninhibited by benzimidazoles 1 homolog (yeast) (BUB1), mRNA.	883	Protein kinase.				apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		TTCAGGGGTATTTTTATAGAG	0.378													---	178	---	---	7	---					
SCN9A	6335	broad.mit.edu	37	2	167055991	167055992	+	Frame_Shift_Ins	INS	-	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:167055991_167055992insT	uc010fpl.3	-	26	5465_5466	c.5124_5125insA	c.(5122-5127)aaagttfs	p.K1708fs	BC051759_uc002udp.3_Intron	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	1719						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	CCAGGATGAACTTTTTTTGGGT	0.421													---	279	---	---	18	---					
CCDC141	285025	broad.mit.edu	37	2	179720988	179720989	+	Frame_Shift_Ins	INS	-	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179720988_179720989insT	uc002une.2	-	17	2978_2979	c.2860_2861insA	c.(2860-2862)atgfs	p.M954fs	CCDC141_uc002unf.1_Frame_Shift_Ins_p.M433fs	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	Homo sapiens coiled-coil domain containing 141 (CCDC141), mRNA.	379							protein binding	p.M379fs*4(1)		NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			TGTTACCTGCATTTTTTCAGCA	0.297													---	73	---	---	24	---					
ZSWIM2	151112	broad.mit.edu	37	2	187702251	187702251	+	Frame_Shift_Del	DEL	T	-	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:187702251delT	uc002upu.1	-	4	565	c.525delA	c.(523-525)aaafs	p.K175fs		NM_182521	NP_872327	Q8NEG5	ZSWM2_HUMAN	Homo sapiens zinc finger, SWIM-type containing 2 (ZSWIM2), mRNA.	175					apoptosis		zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			TCTTCATGCATTTTATATGAA	0.318													---	49	---	---	31	---					
RFTN2	130132	broad.mit.edu	37	2	198480648	198480648	+	Frame_Shift_Del	DEL	C	-	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:198480648delC	uc002uuo.4	-	6	1508	c.1106delG	c.(1105-1107)ggafs	p.G369fs		NM_144629	NP_653230	Q52LD8	RFTN2_HUMAN	Homo sapiens raftlin family member 2 (RFTN2), mRNA.	369						plasma membrane		p.F368F(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(13)|urinary_tract(3)	30						CAGAAGCCATCCGAATTCAGC	0.398													---	4	---	---	2	---					
ALS2	57679	broad.mit.edu	37	2	202569277	202569278	+	Frame_Shift_Ins	INS	-	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:202569277_202569278insA	uc002uyo.3	-	31	5093_5094	c.4737_4738insT	c.(4735-4740)tttgagfs	p.F1579fs	ALS2_uc010ftl.3_Non-coding_Transcript	NM_020919	NP_065970	Q96Q42	ALS2_HUMAN	Homo sapiens amyotrophic lateral sclerosis 2 (juvenile) (ALS2), transcript variant 1, mRNA.	1579	VPS9.				cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity|protein homodimerization activity|protein serine/threonine kinase activator activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						GAGATCTCCTCAAAAGTCTGCT	0.426													---	47	---	---	30	---					
NBEAL1	65065	broad.mit.edu	37	2	204000598	204000599	+	Frame_Shift_Ins	INS	-	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:204000598_204000599insA	uc002uzt.3	+	26	4258_4259	c.3925_3926insA	c.(3925-3927)gaafs	p.E1309fs	NBEAL1_uc021vvj.1_Frame_Shift_Ins_p.E12fs	NM_001114132	NP_001107604	Q6ZS30	NBEL1_HUMAN	Homo sapiens neurobeachin-like 1 (NBEAL1), mRNA.	1309							binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						GAACTCTGATGAAAAAACAGAT	0.361													---	34	---	---	20	---					
MOGAT1	116255	broad.mit.edu	37	2	223554072	223554073	+	Frame_Shift_Ins	INS	-	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:223554072_223554073insT	uc010fws.1	+	2	410_411	c.362_363insT	c.(361-363)aatfs	p.N121fs	MOGAT1_uc010fwt.1_Frame_Shift_Ins_p.N81fs	NM_058165	NP_477513	Q96PD6	MOGT1_HUMAN	Homo sapiens monoacylglycerol O-acyltransferase 1 (MOGAT1), mRNA.	121					glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity			breast(1)|cervix(1)|endometrium(1)|lung(5)|urinary_tract(1)	9		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;2.06e-07)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0105)		GCCTTTGGGAATTTTTCTGTAA	0.406													---	39	---	---	24	---					
IRAK2	3656	broad.mit.edu	37	3	10283837	10283838	+	Frame_Shift_Ins	INS	-	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:10283837_10283838insA	uc003bve.1	+	12	1879_1880	c.1803_1804insA	c.(1801-1806)gccaaafs	p.A601fs		NM_001570	NP_001561	O43187	IRAK2_HUMAN	Homo sapiens interleukin-1 receptor-associated kinase 2 (IRAK2), mRNA.	601					I-kappaB kinase/NF-kappaB cascade|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|inflammatory response|innate immune response|interleukin-1-mediated signaling pathway|negative regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|endosome membrane|plasma membrane	ATP binding|NF-kappaB-inducing kinase activity|protein heterodimerization activity|protein homodimerization activity			breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1)	25						TCAATGAGGCCAAAAGGAAACT	0.406													---	66	---	---	27	---					
CNOT10	25904	broad.mit.edu	37	3	32754743	32754744	+	Frame_Shift_Ins	INS	-	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:32754743_32754744insT	uc011axj.1	+	4	712_713	c.635_636insT	c.(634-636)tgtfs	p.C212fs	CNOT10_uc011axi.1_Intron|CNOT10_uc003cfc.1_Frame_Shift_Ins_p.C152fs|CNOT10_uc003cfd.1_Frame_Shift_Ins_p.C151fs|CNOT10_uc003cfe.1_Frame_Shift_Ins_p.C152fs|CNOT10_uc010hfv.1_Non-coding_Transcript|CNOT10_uc010hfw.1_5'UTR	NM_015442	NP_056257	Q9H9A5	CNOTA_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 10 (CNOT10), mRNA.	152					nuclear-transcribed mRNA poly(A) tail shortening	cytosol	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(3)	23						CAAGCAGTGTGTTTTTTGCTTG	0.361													---	55	---	---	21	---					
SETD2	29072	broad.mit.edu	37	3	47163376	47163377	+	Frame_Shift_Ins	INS	-	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:47163376_47163377insT	uc003cqv.3	-	2	2802_2803	c.2716_2717insA	c.(2716-2718)agtfs	p.S906fs	SETD2_uc003cqs.3_Frame_Shift_Ins_p.S917fs	NM_014159	NP_054878	Q9BYW2	SETD2_HUMAN	Homo sapiens SET domain containing 2 (SETD2), mRNA.	917					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		AAACTCTGAACTTTTTTTACTC	0.431			"""N, F, S, Mis"""		clear cell renal carcinoma								---	106	---	---	44	---					
PBRM1	55193	broad.mit.edu	37	3	52668759	52668760	+	Frame_Shift_Ins	INS	-	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52668759_52668760insA	uc003des.2	-	10	1171_1172	c.1159_1160insT	c.(1159-1161)tatfs	p.Y387fs	PBRM1_uc003dex.2_Non-coding_Transcript|PBRM1_uc003deq.2_Frame_Shift_Ins_p.Y387fs|PBRM1_uc003der.2_Frame_Shift_Ins_p.Y355fs|PBRM1_uc003det.2_Frame_Shift_Ins_p.Y387fs|PBRM1_uc003deu.2_Frame_Shift_Ins_p.Y387fs|PBRM1_uc003dev.2_Non-coding_Transcript|PBRM1_uc003dew.2_Frame_Shift_Ins_p.Y387fs|PBRM1_uc010hmk.1_Frame_Shift_Ins_p.Y387fs|PBRM1_uc003dey.2_Frame_Shift_Ins_p.Y387fs|PBRM1_uc003dez.1_Frame_Shift_Ins_p.Y387fs|PBRM1_uc003dfb.1_Frame_Shift_Ins_p.Y285fs	NM_181042	NP_060635	Q86U86	PB1_HUMAN	Homo sapiens polybromo 1 (PBRM1), transcript variant 4, mRNA.	387					chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	DNA binding|chromatin binding|protein binding			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		ATAAAGCTGATAAAAAGGATTT	0.371			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""								---	55	---	---	53	---					
APPL1	26060	broad.mit.edu	37	3	57276920	57276921	+	Frame_Shift_Ins	INS	-	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:57276920_57276921insA	uc003dio.3	+	6	599_600	c.452_453insA	c.(451-453)tcafs	p.S151fs	APPL1_uc010hnb.3_Frame_Shift_Ins_p.S151fs|APPL1_uc011bey.1_Frame_Shift_Ins_p.S134fs	NM_012096	NP_036228	Q9UKG1	DP13A_HUMAN	Homo sapiens adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1 (APPL1), mRNA.	151	Required for RAB5A binding.				apoptosis|cell cycle|cell proliferation|insulin receptor signaling pathway|regulation of apoptosis|regulation of establishment of protein localization in plasma membrane|regulation of glucose import	cytosol|early endosome membrane|microsome|nucleus|vesicle membrane	protein kinase B binding	p.R154fs*6(1)		breast(3)|endometrium(3)|kidney(3)|large_intestine(10)|liver(2)|lung(4)|prostate(2)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)		AGCCGTTTATCAAAAAAAAGAG	0.297													---	49	---	---	20	---					
GXYLT2	727936	broad.mit.edu	37	3	73024186	73024187	+	Frame_Shift_Ins	INS	-	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:73024186_73024187insG	uc003dpg.3	+	6	1208_1209	c.1208_1209insG	c.(1207-1209)ttgfs	p.L403fs		NM_001080393	NP_001073862	A0PJZ3	GXLT2_HUMAN	Homo sapiens glucoside xylosyltransferase 2 (GXYLT2), mRNA.	403					O-glycan processing	integral to membrane	UDP-xylosyltransferase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	18						CTGAAGTTTTTGGAGACTGTGC	0.371													---	87	---	---	41	---					
HTR1F	3355	broad.mit.edu	37	3	88040823	88040823	+	Frame_Shift_Del	DEL	T	-	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:88040823delT	uc003dqr.2	+	1	1082	c.924delT	c.(922-924)cctfs	p.P308fs	HTR1F_uc021xbd.1_Frame_Shift_Del_p.P308fs	NM_000866	NP_000857	P30939	5HT1F_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1F (HTR1F), mRNA.	308					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	serotonin binding|serotonin receptor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(8;0.147)	Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664)	Eletriptan(DB00216)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315)	GTTGGCTTCCTTTTTTTGTAA	0.368													---	26	---	---	17	---					
DCBLD2	131566	broad.mit.edu	37	3	98518429	98518429	+	Frame_Shift_Del	DEL	C	-	-	rs141432727	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:98518429delC	uc003dte.3	-	15	2520	c.2157delG	c.(2155-2157)gggfs	p.G719fs	DCBLD2_uc003dtd.3_Frame_Shift_Del_p.G705fs	NM_080927	NP_563615	Q96PD2	DCBD2_HUMAN	Homo sapiens discoidin, CUB and LCCL domain containing 2 (DCBLD2), mRNA.	705					cell adhesion|intracellular receptor mediated signaling pathway|negative regulation of cell growth|wound healing	cell surface|integral to plasma membrane				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|stomach(2)	25						GAGGTTGGTTCCCCGTAGCCT	0.552													---	113	---	---	10	---					
PDIA5	10954	broad.mit.edu	37	3	122869088	122869089	+	Frame_Shift_Ins	INS	-	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:122869088_122869089insC	uc003egc.2	+	13	1306_1307	c.1150_1151insC	c.(1150-1152)gccfs	p.A384fs	PDIA5_uc003egd.2_Non-coding_Transcript	NM_006810	NP_006801	Q14554	PDIA5_HUMAN	Homo sapiens protein disulfide isomerase family A, member 5 (PDIA5), transcript variant 1, mRNA.	384	Thioredoxin 2.|Thioredoxin 3.				cell redox homeostasis|glycerol ether metabolic process|protein folding|response to stress	endoplasmic reticulum lumen	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	21				GBM - Glioblastoma multiforme(114;0.0427)		CAGCCCTGAGGCCCCCCCGCCC	0.604													---	73	---	---	19	---					
TOPBP1	11073	broad.mit.edu	37	3	133329880	133329880	+	Frame_Shift_Del	DEL	T	-	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:133329880delT	uc003eps.3	-	24	4273	c.4141delA	c.(4141-4143)atcfs	p.I1381fs		NM_007027	NP_008958	Q92547	TOPB1_HUMAN	Homo sapiens topoisomerase (DNA) II binding protein 1 (TOPBP1), mRNA.	1381					DNA repair|response to ionizing radiation	PML body|microtubule organizing center|spindle pole	DNA binding|protein C-terminus binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						CTTTGCTGGATTTTTTTTCTC	0.343								Other conserved DNA damage response genes					---	193	---	---	18	---					
WWTR1	25937	broad.mit.edu	37	3	149290789	149290790	+	Splice_Site	INS	-	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:149290789_149290790insA	uc003exf.3	-	3	772	c.432_splice	c.e3-1	p.N144_splice	WWTR1_uc003exe.3_Splice_Site_p.N144_splice|WWTR1_uc021xfm.1_Splice_Site_p.N144_splice|WWTR1_uc003exh.3_Splice_Site_p.N144_splice	NM_015472	NP_056287	Q9GZV5	WWTR1_HUMAN	Homo sapiens WW domain containing transcription regulator 1 (WWTR1), transcript variant 1, mRNA.	144	WW.				hippo signaling cascade|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of protein kinase activity|negative regulation of protein phosphorylation|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|regulation of SMAD protein import into nucleus|stem cell division|transcription, DNA-dependent	cytoplasm	transcription coactivator activity			breast(5)|cervix(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	23			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			TCTATGTGACTAAAAGAAGGAA	0.386			T	CAMTA1	epitheliod hemangioendothelioma								---	61	---	---	22	---					
P2RY13	53829	broad.mit.edu	37	3	151046359	151046360	+	Frame_Shift_Ins	INS	-	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:151046359_151046360insT	uc003eyv.2	-	1	505_506	c.484_485insA	c.(484-486)acgfs	p.T162fs	MED12L_uc003eyp.3_Intron|MED12L_uc011bnz.2_Intron	NM_176894	NP_795713	Q9BPV8	P2Y13_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 13 (P2RY13), mRNA.	162						integral to membrane|plasma membrane				biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	14			LUSC - Lung squamous cell carcinoma(72;0.0189)|Lung(72;0.0278)			GATTGAGACCGTTTTTGCAAAA	0.406													---	35	---	---	20	---					
DHX36	170506	broad.mit.edu	37	3	154041998	154041999	+	Frame_Shift_Ins	INS	-	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:154041998_154041999insT	uc003ezy.4	-	0	288_289	c.207_208insA	c.(205-210)aaacagfs	p.K69fs	DHX36_uc010hvq.3_Frame_Shift_Ins_p.K69fs|DHX36_uc003ezz.4_Frame_Shift_Ins_p.K69fs	NM_020865	NP_065916	Q9H2U1	DHX36_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 36 (DHX36), transcript variant 1, mRNA.	69						cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			TTCTGCCCCTGTTTTTTCGCGT	0.634													---	189	---	---	10	---					
SLC33A1	9197	broad.mit.edu	37	3	155560396	155560396	+	Frame_Shift_Del	DEL	A	-	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:155560396delA	uc003fan.4	-	1	1250	c.788delT	c.(787-789)ttcfs	p.F263fs	SLC33A1_uc003fao.2_Frame_Shift_Del_p.F263fs	NM_001190992	NP_004724	O00400	ACATN_HUMAN	Homo sapiens solute carrier family 33 (acetyl-CoA transporter), member 1 (SLC33A1), transcript variant 2, mRNA.	263					cell death|transmembrane transport	Golgi membrane|endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	acetyl-CoA transporter activity			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	22			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			AGTTCCCCAGAAAAAAAGGAA	0.244													---	23	---	---	10	---					
NLGN1	22871	broad.mit.edu	37	3	173993227	173993228	+	Frame_Shift_Ins	INS	-	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:173993227_173993228insT	uc021xhm.1	+	4	1209_1210	c.889_890insT	c.(889-891)gttfs	p.V297fs	NLGN1_uc003fio.1_Frame_Shift_Ins_p.V257fs|NLGN1_uc010hww.1_Frame_Shift_Ins_p.V297fs|NLGN1_uc003fip.1_Frame_Shift_Ins_p.V257fs	NM_014932	NP_055747	Q8N2Q7	NLGN1_HUMAN	Homo sapiens neuroligin 1 (NLGN1), mRNA.	274					calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of N-methyl-D-aspartate selective glutamate receptor activity|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			AAGAATCACTGTTTTTGGATCT	0.431													---	67	---	---	38	---					
NAALADL2	254827	broad.mit.edu	37	3	174814914	174814914	+	Frame_Shift_Del	DEL	A	-	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:174814914delA	uc003fit.3	+	1	465	c.378delA	c.(376-378)ttafs	p.L126fs	NAALADL2_uc003fiu.1_Frame_Shift_Del_p.L119fs	NM_207015	NP_996898	Q58DX5	NADL2_HUMAN	Homo sapiens N-acetylated alpha-linked acidic dipeptidase-like 2 (NAALADL2), mRNA.	126					proteolysis	integral to membrane	peptidase activity			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		GCCACGTCTTAAAAATACTTT	0.388													---	116	---	---	12	---					
ACAP2	23527	broad.mit.edu	37	3	195017950	195017950	+	Frame_Shift_Del	DEL	T	-	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:195017950delT	uc003fun.4	-	15	1697	c.1456delA	c.(1456-1458)atgfs	p.M486fs		NM_012287	NP_036419	Q15057	ACAP2_HUMAN	Homo sapiens ArfGAP with coiled-coil, ankyrin repeat and PH domains 2 (ACAP2), mRNA.	486	Arf-GAP.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	27						TTTATTCCCATTTTTTCCACA	0.313													---	123	---	---	9	---					
DLG1	1739	broad.mit.edu	37	3	196857544	196857545	+	Splice_Site	INS	-	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:196857544_196857545insA	uc010ial.3	-	12	1379	c.1120_splice	c.e12-1	p.V374_splice	DLG1_uc011bub.2_Splice_Site_p.V258_splice|DLG1_uc011buc.2_Splice_Site_p.V258_splice|DLG1_uc011bud.2_Splice_Site_p.V57_splice|DLG1_uc003fxo.4_Splice_Site_p.V374_splice|DLG1_uc003fxn.4_Splice_Site_p.V374_splice|DLG1_uc011bue.2_Splice_Site_p.V341_splice|DLG1_uc011buf.1_Splice_Site|DLG1_uc003fxp.2_Splice_Site|DLG1_uc010iam.1_Splice_Site_p.V341_splice|DLG1_uc010ian.2_Splice_Site_p.V241_splice	NM_001098424	NP_001091894	Q12959	DLG1_HUMAN	Homo sapiens discs, large homolog 1 (Drosophila) (DLG1), transcript variant 1, mRNA.	374	PDZ 2.				actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly	MPP7-DLG1-LIN7 complex|basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction	L27 domain binding|cytoskeletal protein binding|guanylate kinase activity|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein C-terminus binding|protein binding|protein kinase binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)		GTTATTCACCTAAAAAAAGTCC	0.332													---	36	---	---	22	---					
FAM193A	8603	broad.mit.edu	37	4	2661593	2661593	+	Frame_Shift_Del	DEL	C	-	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:2661593delC	uc010ick.3	+	8	1285	c.1284delC	c.(1282-1284)gacfs	p.D428fs	FAM193A_uc003gfd.3_Frame_Shift_Del_p.D228fs|FAM193A_uc011bvm.2_Frame_Shift_Del_p.D252fs|FAM193A_uc011bvn.2_Frame_Shift_Del_p.D228fs|FAM193A_uc010icl.3_Frame_Shift_Del_p.D228fs|FAM193A_uc011bvo.2_Non-coding_Transcript|FAM193A_uc010icm.3_Non-coding_Transcript|FAM193A_uc003gfe.2_Frame_Shift_Del_p.D82fs	NM_003704	NP_003695	P78312	F193A_HUMAN	Homo sapiens family with sequence similarity 193, member A (FAM193A), mRNA.	228										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						GTATCATGGACCCCCCCGTCA	0.522													---	72	---	---	33	---					
JAKMIP1	152789	broad.mit.edu	37	4	6066711	6066712	+	Frame_Shift_Ins	INS	-	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:6066711_6066712insA	uc010idb.1	-	8	1812_1813	c.1326_1327insT	c.(1324-1329)tttggafs	p.F442fs	JAKMIP1_uc010idc.1_Frame_Shift_Ins_p.F257fs|JAKMIP1_uc010idd.1_Frame_Shift_Ins_p.F442fs|JAKMIP1_uc003giu.4_Frame_Shift_Ins_p.F442fs|JAKMIP1_uc011bwc.2_Frame_Shift_Ins_p.F277fs|JAKMIP1_uc003giv.4_Frame_Shift_Ins_p.F442fs|JAKMIP1_uc010ide.3_Frame_Shift_Ins_p.F442fs	NM_001099433	NP_001092903	Q96N16	JKIP1_HUMAN	Homo sapiens janus kinase and microtubule interacting protein 1 (JAKMIP1), transcript variant 1, mRNA.	442	Mediates interaction with TYK2 and GABBR1.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TCATCAAATCCAAAAAATGTCT	0.490													---	61	---	---	22	---					
SH3TC1	54436	broad.mit.edu	37	4	8218777	8218778	+	Frame_Shift_Ins	INS	-	T	T	rs149468044		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:8218777_8218778insT	uc003gkv.4	+	6	823_824	c.722_723insT	c.(721-723)tcgfs	p.S241fs	SH3TC1_uc003gkw.4_Frame_Shift_Ins_p.S165fs|SH3TC1_uc003gkx.4_Intron	NM_018986	NP_061859	Q8TE82	S3TC1_HUMAN	Homo sapiens SH3 domain and tetratricopeptide repeats 1 (SH3TC1), mRNA.	241							binding			NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						AGGCAGGCTTCGGGGGCACCCC	0.673													---	36	---	---	8	---					
MED28	80306	broad.mit.edu	37	4	17623272	17623273	+	Frame_Shift_Ins	INS	-	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:17623272_17623273insA	uc003gpi.1	+	2	294_295	c.289_290insA	c.(289-291)caafs	p.Q97fs	MED28_uc003gpj.3_Non-coding_Transcript	NM_025205	NP_079481	Q9H204	MED28_HUMAN	Homo sapiens mediator complex subunit 28 (MED28), mRNA.	97					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|membrane|nucleus	actin binding			lung(6)|skin(2)	8						TTTTTTCTTACAAAAAAGATTG	0.337													---	61	---	---	33	---					
PGM2	55276	broad.mit.edu	37	4	37863187	37863188	+	Frame_Shift_Ins	INS	-	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:37863187_37863188insT	uc011byb.1	+	13	1866_1867	c.1793_1794insT	c.(1792-1794)catfs	p.H598fs	PGM2_uc011byc.1_Frame_Shift_Ins_p.H438fs	NM_018290	NP_060760	Q96G03	PGM2_HUMAN	Homo sapiens phosphoglucomutase 2 (PGM2), mRNA.	598					glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity|phosphopentomutase activity			breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	19						ATTGAAGAACATTTTTTCCAGC	0.411													---	168	---	---	41	---					
GABRG1	2565	broad.mit.edu	37	4	46067578	46067578	+	Frame_Shift_Del	DEL	A	-	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:46067578delA	uc003gxb.3	-	3	497	c.345delT	c.(343-345)tttfs	p.F115fs		NM_173536	NP_775807	Q8N1C3	GBRG1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 1 (GABRG1), mRNA.	115					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		AGGTTTGGGCAAAAATTATAT	0.284													---	16	---	---	21	---					
GABRA4	2557	broad.mit.edu	37	4	46981050	46981050	+	Frame_Shift_Del	DEL	T	-	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:46981050delT	uc003gxg.3	-	2	1254	c.271delA	c.(271-273)atgfs	p.M91fs	GABRA4_uc021xnz.1_Frame_Shift_Del_p.M72fs|GABRA4_uc021xoa.1_Frame_Shift_Del_p.M72fs	NM_000809	NP_000800	P48169	GBRA4_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 4 (GABRA4), transcript variant 1, mRNA.	91					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity	p.E90K(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	ATACCTACCATTTCAACATCA	0.333													---	43	---	---	9	---					
OCIAD1	54940	broad.mit.edu	37	4	48859372	48859372	+	Frame_Shift_Del	DEL	A	-	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:48859372delA	uc010igk.3	+	7	921	c.705delA	c.(703-705)ccafs	p.P235fs	OCIAD1_uc003gyo.3_Frame_Shift_Del_p.P230fs|OCIAD1_uc003gyq.3_Intron|OCIAD1_uc003gyp.3_Intron|OCIAD1_uc003gyr.3_Frame_Shift_Del_p.P230fs|OCIAD1_uc021xoc.1_Intron	NM_001168254	NP_001161726	Q9NX40	OCAD1_HUMAN	Homo sapiens OCIA domain containing 1 (OCIAD1), transcript variant 6, mRNA.	230						endosome	protein binding			breast(2)|large_intestine(2)|lung(2)|prostate(1)|skin(2)	9						AAAGAGTGCCAAAAAAAGAAG	0.303													---	97	---	---	8	---					
CSN1S1	1446	broad.mit.edu	37	4	70810694	70810695	+	Frame_Shift_Ins	INS	-	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:70810694_70810695insA	uc003hep.1	+	14	578_579	c.529_530insA	c.(529-531)gaafs	p.E177fs	CSN1S1_uc003heq.1_Frame_Shift_Ins_p.E168fs|CSN1S1_uc003her.1_Frame_Shift_Ins_p.E169fs	NM_001890	NP_001881	P47710	CASA1_HUMAN	Homo sapiens casein alpha s1 (CSN1S1), transcript variant 1, mRNA.	177						extracellular region	protein binding|transporter activity			lung(5)|prostate(1)|upper_aerodigestive_tract(1)	7						TGAAAATTATGAAAAAAATAAC	0.391													---	86	---	---	45	---					
HNRNPD	3184	broad.mit.edu	37	4	83279883	83279883	+	Frame_Shift_Del	DEL	T	-	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:83279883delT	uc003hmm.1	-	3	868	c.550delA	c.(550-552)attfs	p.I184fs	HNRNPD_uc003hml.1_Non-coding_Transcript|HNRNPD_uc003hmn.1_Frame_Shift_Del_p.I165fs|HNRNPD_uc003hmo.1_Frame_Shift_Del_p.I184fs|HNRNPD_uc003hmp.1_Frame_Shift_Del_p.I165fs|HNRNPD_uc010ijr.1_Frame_Shift_Del_p.I165fs|HNRNPD_uc011cci.1_Frame_Shift_Del_p.I30fs	NM_031370	NP_112738	Q14103	HNRPD_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein D (AU-rich element RNA binding protein 1, 37kDa) (HNRNPD), transcript variant 1, mRNA.	184	RRM 2.				RNA catabolic process|nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	RNA binding|nucleotide binding|protein binding|telomeric DNA binding	p.I184N(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(1)	7						CCAACAAAAATTTTTTTAACC	0.368													---	92	---	---	12	---					
HPSE	10855	broad.mit.edu	37	4	84216533	84216533	+	Frame_Shift_Del	DEL	A	-	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:84216533delA	uc003hoj.4	-	11	1695	c.1596delT	c.(1594-1596)tttfs	p.F532fs	HPSE_uc003hoi.3_Frame_Shift_Del_p.F474fs|HPSE_uc011ccq.2_Non-coding_Transcript|HPSE_uc011ccr.2_Non-coding_Transcript|HPSE_uc011ccs.2_Frame_Shift_Del_p.F275fs|HPSE_uc003hok.4_Frame_Shift_Del_p.F532fs|HPSE_uc011cct.2_Frame_Shift_Del_p.F458fs	NM_001098540	NP_006656	Q9Y251	HPSE_HUMAN	Homo sapiens heparanase (HPSE), transcript variant 2, mRNA.	532	Required for transferring proheparanase to the Golgi apparatus, secretion and subsequent enzyme activity and for enhancement of PKB/AKT1 phosphorylation.				carbohydrate metabolic process|cell adhesion|proteoglycan metabolic process	extracellular region|lysosomal membrane|nucleus	beta-glucuronidase activity|cation binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	20		Hepatocellular(203;0.114)		COAD - Colon adenocarcinoma(81;0.141)	Heparin(DB01109)	TTCTTATCACAAAAAAACTAT	0.383													---	117	---	---	14	---					
WDFY3	23001	broad.mit.edu	37	4	85719252	85719253	+	Frame_Shift_Ins	INS	-	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:85719252_85719253insA	uc003hpd.3	-	17	3239_3240	c.2831_2832insT	c.(2830-2832)ttafs	p.L944fs		NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	Homo sapiens WD repeat and FYVE domain containing 3 (WDFY3), mRNA.	944						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TTGCCAAACGTAAAAACTCCCT	0.317													---	49	---	---	34	---					
C4orf37	285555	broad.mit.edu	37	4	99027104	99027105	+	Splice_Site	INS	-	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:99027104_99027105insT	uc003htt.2	-	5	702	c.612_splice	c.e5+1	p.K204_splice		NM_174952	NP_777612	Q8N412	CD037_HUMAN	Homo sapiens chromosome 4 open reading frame 37 (C4orf37), mRNA.	204										cervix(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(3)|stomach(1)	25				OV - Ovarian serous cystadenocarcinoma(123;2.27e-08)		TTCAACTTACCTTTTTTTTCTC	0.302													---	20	---	---	8	---					
CENPE	1062	broad.mit.edu	37	4	104053958	104053959	+	Frame_Shift_Ins	INS	-	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:104053958_104053959insA	uc003hxb.1	-	41	6905_6906	c.6815_6816insT	c.(6814-6816)ttgfs	p.L2272fs	CENPE_uc003hxc.1_Frame_Shift_Ins_p.L2151fs	NM_001813	NP_001804	Q02224	CENPE_HUMAN	Homo sapiens centromere protein E, 312kDa (CENPE), mRNA.	2272	Kinetochore-binding domain.				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)		ACCACTCTTCCAAAAACTGTGT	0.312													---	68	---	---	26	---					
TET2	54790	broad.mit.edu	37	4	106158447	106158447	+	Frame_Shift_Del	DEL	A	-	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:106158447delA	uc011cez.2	+	2	3816	c.3411delA	c.(3409-3411)atafs	p.I1137fs	TET2_uc003hxk.3_Frame_Shift_Del_p.I1116fs|TET2_uc003hxj.2_Non-coding_Transcript|TET2_uc021xqk.1_Frame_Shift_Del_p.I1116fs|TET2_uc010ilp.2_Frame_Shift_Del_p.I1116fs|TET2_uc021xql.1_Frame_Shift_Del_p.I1116fs	NM_001127208	NP_001120680	Q6N021	TET2_HUMAN	Homo sapiens tet methylcytosine dioxygenase 2 (TET2), transcript variant 1, mRNA.	1116					cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.E1137fs*15(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		ATACTCCTATAAAAAATTTAT	0.363			"""Mis N, F"""		MDS								---	56	---	---	40	---					
IL15	3600	broad.mit.edu	37	4	142653933	142653934	+	Frame_Shift_Ins	INS	-	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:142653933_142653934insA	uc003iis.3	+	7	795_796	c.421_422insA	c.(421-423)gaafs	p.E141fs	IL15_uc010iol.3_Frame_Shift_Ins_p.E114fs|IL15_uc003iit.3_Frame_Shift_Ins_p.E141fs	NM_000585	NP_000576	P40933	IL15_HUMAN	Homo sapiens interleukin 15 (IL15), transcript variant 3, mRNA.	141				E -> K (in Ref. 4; AAB97518).	cell-cell signaling|immune response|positive regulation of interleukin-17 production	Golgi apparatus|endosome|extracellular space|integral to plasma membrane|membrane fraction|nucleus	cytokine activity|cytokine receptor binding|signal transducer activity			kidney(1)|large_intestine(1)|lung(2)|stomach(1)	5	all_hematologic(180;0.158)					GGAACTGGAGGAAAAAAATATT	0.272													---	83	---	---	26	---					
ABCE1	6059	broad.mit.edu	37	4	146044650	146044651	+	Frame_Shift_Ins	INS	-	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:146044650_146044651insG	uc003ijx.3	+	15	1978_1979	c.1538_1539insG	c.(1537-1539)aagfs	p.K513fs	ABCE1_uc003ijy.3_Frame_Shift_Ins_p.K513fs|ABCE1_uc010iot.3_Non-coding_Transcript	NM_001040876	NP_002931	P61221	ABCE1_HUMAN	Homo sapiens ATP-binding cassette, sub-family E (OABP), member 1 (ABCE1), transcript variant 2, mRNA.	513	ABC transporter 2.				RNA catabolic process|interspecies interaction between organisms|response to virus	mitochondrion	ATP binding|ATPase activity|electron carrier activity|iron-sulfur cluster binding|ribonuclease inhibitor activity	p.K513R(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|lung(5)|prostate(2)|skin(3)	18	all_hematologic(180;0.151)					CATGCAAAAAAGACAGCCTTTG	0.371													---	38	---	---	22	---					
C4orf27	54969	broad.mit.edu	37	4	170663239	170663240	+	Frame_Shift_Ins	INS	-	T	T	rs34118589		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:170663239_170663240insT	uc003isl.4	-	4	581_582	c.516_517insA	c.(514-519)aaacttfs	p.K172fs		NM_017867	NP_060337	Q9NWY4	CD027_HUMAN	Homo sapiens chromosome 4 open reading frame 27 (C4orf27), mRNA.	172						nucleus				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)	12		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.018)|LUSC - Lung squamous cell carcinoma(193;0.116)		ATTTCTCTAAGTTTTTTCGTCA	0.361													---	63	---	---	7	---					
CLDN22	53842	broad.mit.edu	37	4	184241250	184241250	+	Frame_Shift_Del	DEL	T	-	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:184241250delT	uc010isa.1	-	0	678	c.122delA	c.(121-123)aatfs	p.N41fs	WWC2_uc010irx.3_3'UTR|WWC2_uc003ivk.4_3'UTR|WWC2_uc003ivl.4_Non-coding_Transcript|WWC2_uc010iry.3_3'UTR|WWC2_uc003ivn.4_3'UTR|WWC2_uc010irz.3_3'UTR|WWC2_uc003ivo.4_3'UTR	NM_001111319	NP_001104789	Q8N7P3	CLD22_HUMAN	Homo sapiens claudin 22 (CLDN22), mRNA.	41					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			cervix(1)|kidney(1)|lung(3)|prostate(1)|skin(1)	7		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.0172)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)|Esophageal squamous(56;0.176)		all cancers(43;4.1e-26)|Epithelial(43;6.45e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|Colorectal(24;5.87e-06)|GBM - Glioblastoma multiforme(59;6.5e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		TTCCATTTCATTTAAGTCCAG	0.468													---	111	---	---	8	---					
DNAH5	1767	broad.mit.edu	37	5	13781003	13781004	+	Frame_Shift_Ins	INS	-	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:13781003_13781004insT	uc003jfd.2	-	52	8927_8928	c.8885_8886insA	c.(8884-8886)aagfs	p.K2962fs		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	2962	AAA 4 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TCAGGCTCTGCTTTCCTGATCC	0.465									Kartagener syndrome				---	20	---	---	19	---					
PDZD2	23037	broad.mit.edu	37	5	31799656	31799657	+	Frame_Shift_Ins	INS	-	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:31799656_31799657insG	uc003jhl.3	+	1	689_690	c.301_302insG	c.(301-303)aggfs	p.R101fs	PDZD2_uc003jhm.3_Frame_Shift_Ins_p.R101fs	NM_178140	NP_835260	O15018	PDZD2_HUMAN	Homo sapiens PDZ domain containing 2 (PDZD2), mRNA.	101	PDZ 1.				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						TGAAAAGCGCAGGGGGGGCAAG	0.574													---	84	---	---	35	---					
NIPBL	25836	broad.mit.edu	37	5	36986241	36986242	+	Frame_Shift_Ins	INS	-	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:36986241_36986242insA	uc003jkl.4	+	9	3458_3459	c.2959_2960insA	c.(2959-2961)gaafs	p.E987fs	NIPBL_uc003jkk.4_Frame_Shift_Ins_p.E987fs|NIPBL_uc003jkm.1_Frame_Shift_Ins_p.E866fs	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	Homo sapiens Nipped-B homolog (Drosophila) (NIPBL), transcript variant A, mRNA.	987					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			AGACAAAGTAGAAAAAATAGGA	0.337													---	151	---	---	28	---					
C5orf42	65250	broad.mit.edu	37	5	37148318	37148319	+	Frame_Shift_Ins	INS	-	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:37148318_37148319insT	uc011cpa.1	-	41	8494_8495	c.8263_8264insA	c.(8263-8265)acafs	p.T2755fs	C5orf42_uc003jkp.1_Non-coding_Transcript|C5orf42_uc011coy.1_Frame_Shift_Ins_p.T1273fs|C5orf42_uc003jks.2_Non-coding_Transcript|C5orf42_uc011coz.1_Frame_Shift_Ins_p.T1848fs	NM_023073	NP_075561	E9PH94	E9PH94_HUMAN	Homo sapiens chromosome 5 open reading frame 42 (C5orf42), mRNA.	2755										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			TGAAGCTAATGTTTTTTTGAAT	0.371													---	29	---	---	19	---					
ITGA2	3673	broad.mit.edu	37	5	52376441	52376441	+	Frame_Shift_Del	DEL	A	-	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:52376441delA	uc003joy.3	+	24	3172	c.3029delA	c.(3028-3030)caafs	p.Q1010fs	ITGA2_uc011cqa.2_Non-coding_Transcript|ITGA2_uc011cqb.2_Non-coding_Transcript|ITGA2_uc011cqc.2_Frame_Shift_Del_p.Q934fs|ITGA2_uc011cqd.2_Non-coding_Transcript|ITGA2_uc011cqe.2_Non-coding_Transcript	NM_002203	NP_002194	P17301	ITA2_HUMAN	Homo sapiens integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor) (ITGA2), mRNA.	1010					axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				ACTGGGGTGCAAACAGACAAG	0.378													---	53	---	---	7	---					
MOCS2	4338	broad.mit.edu	37	5	52397989	52397990	+	Frame_Shift_Ins	INS	-	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:52397989_52397990insA	uc003joz.3	-	3	577_578	c.163_164insT	c.(163-165)tcafs	p.S55fs	MOCS2_uc011cqf.2_3'UTR	NM_004531	NP_004522	O96033	MOC2A_HUMAN	Homo sapiens molybdenum cofactor synthesis 2 (MOCS2), transcript variant 3, mRNA.	0					Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex	nucleotide binding			endometrium(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	5		Lung NSC(810;3.08e-05)|Breast(144;0.0848)				TTCATCTACTGAAAGTTTCTCG	0.347													---	24	---	---	17	---					
PLK2	10769	broad.mit.edu	37	5	57750455	57750456	+	Frame_Shift_Ins	INS	-	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:57750455_57750456insT	uc003jrn.3	-	13	2192_2193	c.2012_2013insA	c.(2011-2013)aatfs	p.N671fs	PLK2_uc021xyx.1_Frame_Shift_Ins_p.N657fs	NM_006622	NP_006613	Q9NYY3	PLK2_HUMAN	Homo sapiens polo-like kinase 2 (PLK2), transcript variant 1, mRNA.	671	POLO box 2.				positive regulation of I-kappaB kinase/NF-kappaB cascade		ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity			endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2)	26		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)		ATTCCATTCGATTTTTTAATTC	0.401													---	89	---	---	42	---					
BDP1	55814	broad.mit.edu	37	5	70791221	70791221	+	Frame_Shift_Del	DEL	A	-	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:70791221delA	uc003kbp.1	+	11	2048	c.1785delA	c.(1783-1785)ctafs	p.L595fs	BDP1_uc003kbn.1_Frame_Shift_Del_p.L595fs|BDP1_uc003kbo.3_Frame_Shift_Del_p.L595fs	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN	Homo sapiens B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB (BDP1), mRNA.	595					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		ATGTTGACCTAAAAAATAATT	0.303													---	76	---	---	39	---					
PAM	5066	broad.mit.edu	37	5	102309948	102309949	+	Frame_Shift_Ins	INS	-	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:102309948_102309949insA	uc003knt.3	+	13	1664_1665	c.1291_1292insA	c.(1291-1293)caafs	p.Q431fs	PAM_uc003knw.3_Frame_Shift_Ins_p.Q431fs|PAM_uc003kns.3_Intron|PAM_uc003knu.3_Frame_Shift_Ins_p.Q431fs|PAM_uc011cuz.2_Frame_Shift_Ins_p.Q334fs|PAM_uc003knv.3_Frame_Shift_Ins_p.Q431fs|PAM_uc003knx.1_Intron|PAM_uc003kny.1_Non-coding_Transcript	NM_000919	NP_000910	P19021	AMD_HUMAN	Homo sapiens peptidylglycine alpha-amidating monooxygenase (PAM), transcript variant 1, mRNA.	431	Peptidylglycine alpha-hydroxylating monooxygenase (By similarity).				peptide metabolic process|protein modification process	extracellular region|integral to membrane|stored secretory granule	L-ascorbic acid binding|peptidylamidoglycolate lyase activity|peptidylglycine monooxygenase activity|protein binding			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	25		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	Vitamin C(DB00126)	AAATGTAGTCCAAAAAAAGGAT	0.426													---	57	---	---	20	---					
CCDC112	153733	broad.mit.edu	37	5	114610915	114610916	+	Frame_Shift_Ins	INS	-	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:114610915_114610916insT	uc003kqz.2	-	5	1133_1134	c.915_916insA	c.(913-918)aaagagfs	p.K305fs	CCDC112_uc003kqy.2_Frame_Shift_Ins_p.K222fs|CCDC112_uc003kra.2_Frame_Shift_Ins_p.K305fs	NM_001040440	NP_689762	Q8NEF3	CC112_HUMAN	Homo sapiens coiled-coil domain containing 112 (CCDC112), transcript variant 1, mRNA.	222								p.E306fs*20(2)		endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|skin(1)	20		all_cancers(142;0.000523)|all_epithelial(76;6.44e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;4.09e-08)|Epithelial(69;5.28e-08)|all cancers(49;7.06e-06)		ATTATTACCTCTTTTTTTCTTT	0.332													---	29	---	---	11	---					
DMXL1	1657	broad.mit.edu	37	5	118500926	118500927	+	Frame_Shift_Ins	INS	-	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:118500926_118500927insT	uc010jcl.1	+	20	5102_5103	c.4921_4922insT	c.(4921-4923)attfs	p.I1641fs	DMXL1_uc003ksd.2_Frame_Shift_Ins_p.I1641fs|DMXL1_uc021ycw.1_Frame_Shift_Ins_p.I1468fs	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN	Homo sapiens Dmx-like 1 (DMXL1), mRNA.	1641										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		AGATGCTGCCATTTTTTACCTT	0.302													---	45	---	---	23	---					
DMXL1	1657	broad.mit.edu	37	5	118502316	118502316	+	Frame_Shift_Del	DEL	A	-	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:118502316delA	uc010jcl.1	+	21	5157	c.4976delA	c.(4975-4977)gaafs	p.E1659fs	DMXL1_uc003ksd.2_Frame_Shift_Del_p.E1659fs|DMXL1_uc021ycw.1_Frame_Shift_Del_p.E1486fs	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN	Homo sapiens Dmx-like 1 (DMXL1), mRNA.	1659										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		TATAGAGCTGAAAAAAACACC	0.318													---	55	---	---	33	---					
DMXL1	1657	broad.mit.edu	37	5	118506838	118506839	+	Frame_Shift_Ins	INS	-	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:118506838_118506839insA	uc010jcl.1	+	23	6533_6534	c.6352_6353insA	c.(6352-6354)gaafs	p.E2118fs	DMXL1_uc003ksd.2_Frame_Shift_Ins_p.E2118fs|DMXL1_uc021ycw.1_Frame_Shift_Ins_p.E1945fs	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN	Homo sapiens Dmx-like 1 (DMXL1), mRNA.	2118										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		AAATTTTCAGGAAAAAAGACAG	0.386													---	63	---	---	29	---					
FBN2	2201	broad.mit.edu	37	5	127610311	127610311	+	Frame_Shift_Del	DEL	C	-	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:127610311delC	uc003kuu.3	-	59	8098	c.7659delG	c.(7657-7659)gggfs	p.G2553fs		NM_001999	NP_001990	P35556	FBN2_HUMAN	Homo sapiens fibrillin 2 (FBN2), mRNA.	2553	EGF-like 43; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TACAGGTAAACCCCCCCAGGG	0.423													---	56	---	---	37	---					
DDX46	9879	broad.mit.edu	37	5	134113367	134113367	+	Frame_Shift_Del	DEL	A	-	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:134113367delA	uc003kzw.3	+	5	885	c.717delA	c.(715-717)gtafs	p.V239fs	DDX46_uc003kzv.1_Non-coding_Transcript	NM_014829	NP_055644	Q7L014	DDX46_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 46 (DDX46), mRNA.	239					RNA splicing|mRNA processing	Cajal body|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding			NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AAGAGGAAGTAAAAAAATTTA	0.378													---	92	---	---	36	---					
SLC4A9	83697	broad.mit.edu	37	5	139742030	139742031	+	Splice_Site	INS	-	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:139742030_139742031insT	uc003lfm.2	+	6	827	c.792_splice	c.e6-1	p.R264_splice	SLC4A9_uc003lfj.2_Splice_Site_p.R240_splice|SLC4A9_uc011czg.1_Splice_Site_p.R240_splice|SLC4A9_uc003lfl.2_Splice_Site_p.R240_splice|SLC4A9_uc003lfk.2_Splice_Site_p.R240_splice	NM_031467	NP_113655	Q96Q91	B3A4_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 9 (SLC4A9), mRNA.	264						integral to membrane|plasma membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTTCCTCAGGTTTTTCTGCCT	0.594													---	45	---	---	30	---					
ANKHD1-EIF4EBP3	404734	broad.mit.edu	37	5	139876355	139876356	+	Frame_Shift_Ins	INS	-	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:139876355_139876356insA	uc003lfs.2	+	14	2650_2651	c.2496_2497insA	c.(2494-2499)aagaaafs	p.K832fs	ANKHD1-EIF4EBP3_uc003lfq.2_Frame_Shift_Ins_p.K851fs|ANKHD1-EIF4EBP3_uc003lfr.3_Frame_Shift_Ins_p.K832fs|ANKHD1-EIF4EBP3_uc003lft.1_Intron|ANKHD1-EIF4EBP3_uc003lfu.1_Frame_Shift_Ins_p.K312fs|ANKHD1-EIF4EBP3_uc003lfv.1_Intron	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	Homo sapiens ANKHD1-EIF4EBP3 readthrough (ANKHD1-EIF4EBP3), mRNA.	832						cytoplasm|nucleus	RNA binding			breast(1)|endometrium(8)|kidney(6)|large_intestine(14)|lung(17)|ovary(6)|prostate(2)|skin(1)|urinary_tract(2)	57			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAAGAAGAAGAAAATATTGAA	0.376													---	77	---	---	31	---					
PCDHB13	56123	broad.mit.edu	37	5	140594043	140594044	+	Frame_Shift_Ins	INS	-	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140594043_140594044insT	uc003lja.1	+	0	535_536	c.348_349insT	c.(346-351)gagtttfs	p.E116fs		NM_018933	NP_061756	Q9Y5F0	PCDBD_HUMAN	Homo sapiens protocadherin beta 13 (PCDHB13), mRNA.	116	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTCCCTTCGAGTTTTTTCAAGC	0.460													---	23	---	---	8	---					
RNF145	153830	broad.mit.edu	37	5	158596065	158596066	+	Splice_Site	INS	-	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:158596065_158596066insA	uc010jiq.2	-	8	1179	c.1029_splice	c.e8-1	p.R343_splice	RNF145_uc011ddy.2_Splice_Site_p.R327_splice|RNF145_uc003lxo.2_Splice_Site_p.R341_splice|RNF145_uc011ddz.2_Splice_Site_p.R330_splice|RNF145_uc003lxp.3_Splice_Site_p.R313_splice|RNF145_uc011dea.2_Intron	NM_001199380	NP_001186309	Q96MT1	RN145_HUMAN	Homo sapiens ring finger protein 145 (RNF145), transcript variant 1, mRNA.	313						integral to membrane	zinc ion binding			endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GTCATGCCCCTAAAAAAAGCAT	0.361													---	92	---	---	23	---					
FOXF2	2295	broad.mit.edu	37	6	1390670	1390671	+	Frame_Shift_Ins	INS	-	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:1390670_1390671insG	uc003mtm.3	+	0	602_603	c.488_489insG	c.(487-489)aagfs	p.K163fs		NM_001452	NP_001443	Q12947	FOXF2_HUMAN	Homo sapiens forkhead box F2 (FOXF2), mRNA.	163					epithelial to mesenchymal transition|genitalia development|palate development|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			large_intestine(2)|lung(5)|prostate(1)	8	Ovarian(93;0.0733)	all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.095)		AAGCTGCCTAAGGGCCTCGGGC	0.673													---	56	---	---	40	---					
SLC39A7	7922	broad.mit.edu	37	6	33170830	33170831	+	Frame_Shift_Ins	INS	-	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:33170830_33170831insA	uc003odf.3	+	6	1201_1202	c.1084_1085insA	c.(1084-1086)cacfs	p.H362fs	RXRB_uc003odb.3_5'Flank|RXRB_uc003odc.3_5'Flank|RXRB_uc011dqr.2_5'Flank|RXRB_uc011dqs.1_5'Flank|RXRB_uc011dqt.1_5'Flank|RXRB_uc011dqu.1_5'Flank|SLC39A7_uc003odg.3_Frame_Shift_Ins_p.H362fs|SLC39A7_uc011dqv.2_Frame_Shift_Ins_p.H237fs|HSD17B8_uc003odi.1_5'Flank	NM_001077516	NP_008910	Q92504	S39A7_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 7 (SLC39A7), transcript variant 2, mRNA.	362						endoplasmic reticulum membrane|integral to membrane|membrane fraction	protein binding|zinc ion transmembrane transporter activity	p.P361P(1)		NS(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						TGAAGTGCCCCACGAGGTCGGA	0.550													---	244	---	---	10	---					
ENPP4	22875	broad.mit.edu	37	6	46107506	46107507	+	Frame_Shift_Ins	INS	-	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:46107506_46107507insA	uc003oxy.3	+	1	445_446	c.186_187insA	c.(184-189)gttaaafs	p.V62fs		NM_014936	NP_055751	Q9Y6X5	ENPP4_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative) (ENPP4), mRNA.	62						integral to membrane	hydrolase activity			central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	18						TAGAGCATGTTAAAAATGTTTT	0.356													---	68	---	---	28	---					
DST	667	broad.mit.edu	37	6	56362694	56362695	+	Frame_Shift_Ins	INS	-	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:56362694_56362695insT	uc003pcy.4	-	61	12292_12293	c.12184_12185insA	c.(12184-12186)acafs	p.T4062fs		NM_015548	NP_056363	Q03001	DYST_HUMAN	Homo sapiens dystonin (DST), transcript variant 1eA, mRNA.	6474					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	Z disc|actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein C-terminus binding|protein binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CCTTTGTTCTGTTTTTTCCAAA	0.391													---	35	---	---	14	---					
SLC25A51P1	442229	broad.mit.edu	37	6	66498263	66498264	+	RNA	INS	-	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:66498263_66498264insA	uc011dxw.2	+	0		c.492_493insA								Homo sapiens mitochondrial carrier triple repeat 3 pseudogene (MCART3P), non-coding RNA.																		TCTTACAGGTTAAAAAAAGTTA	0.376													---	24	---	---	10	---					
CD109	135228	broad.mit.edu	37	6	74517834	74517835	+	Frame_Shift_Ins	INS	-	T	T	rs35580099		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:74517834_74517835insT	uc003php.3	+	25	3649_3650	c.3218_3219insT	c.(3217-3219)catfs	p.H1073fs	CD109_uc003phq.3_Frame_Shift_Ins_p.H1073fs|CD109_uc010kba.3_Frame_Shift_Ins_p.H996fs	NM_133493	NP_598000	Q6YHK3	CD109_HUMAN	Homo sapiens CD109 molecule (CD109), transcript variant 1, mRNA.	1073						anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GAGTCTATCCATTTTTTGGAGT	0.356													---	47	---	---	17	---					
ZNF292	23036	broad.mit.edu	37	6	87970355	87970356	+	Frame_Shift_Ins	INS	-	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:87970355_87970356insA	uc003plm.4	+	7	7049_7050	c.7008_7009insA	c.(7006-7011)aagaaafs	p.K2336fs		NM_015021	NP_055836	O60281	ZN292_HUMAN	Homo sapiens zinc finger protein 292 (ZNF292), mRNA.	2336					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		CCAAACGAAAGAAAAAAAATAA	0.366													---	26	---	---	10	---					
KIAA1919	91749	broad.mit.edu	37	6	111587479	111587480	+	Frame_Shift_Ins	INS	-	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:111587479_111587480insT	uc003puv.4	+	3	1136_1137	c.714_715insT	c.(712-717)ttctttfs	p.F238fs		NM_153369	NP_699200	Q5TF39	NAGT1_HUMAN	Homo sapiens KIAA1919 (KIAA1919), mRNA.	238					carbohydrate transport|sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			large_intestine(3)|lung(2)|ovary(4)|skin(3)	12		all_cancers(87;2.35e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.055)|all cancers(137;0.0871)|Epithelial(106;0.0884)		TTCTGTTCTTCTTTTTTTATGT	0.401													---	27	---	---	23	---					
REV3L	5980	broad.mit.edu	37	6	111695487	111695488	+	Frame_Shift_Ins	INS	-	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:111695487_111695488insT	uc003puy.4	-	12	4411_4412	c.4070_4071insA	c.(4069-4071)aatfs	p.N1357fs	REV3L_uc003pux.4_Frame_Shift_Ins_p.N1279fs|REV3L_uc003puz.4_Frame_Shift_Ins_p.N1279fs	NM_002912	NP_002903	O60673	DPOLZ_HUMAN	Homo sapiens REV3-like, catalytic subunit of DNA polymerase zeta (yeast) (REV3L), mRNA.	1357					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		GGTCAAATATATTTTTTTGAAT	0.307								DNA polymerases (catalytic subunits)					---	74	---	---	39	---					
PHACTR2	9749	broad.mit.edu	37	6	144086745	144086746	+	Frame_Shift_Ins	INS	-	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:144086745_144086746insC	uc010khi.3	+	5	1241_1242	c.1042_1043insC	c.(1042-1044)gccfs	p.A348fs	PHACTR2_uc003qjq.4_Frame_Shift_Ins_p.A337fs|PHACTR2_uc010khh.3_Frame_Shift_Ins_p.A257fs|PHACTR2_uc003qjr.4_Frame_Shift_Ins_p.A268fs	NM_001100164	NP_001093634	O75167	PHAR2_HUMAN	Homo sapiens phosphatase and actin regulator 2 (PHACTR2), transcript variant 1, mRNA.	337							actin binding|protein phosphatase inhibitor activity			NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30				OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)		TTCTCCTCTGGCCCCCCCTCTC	0.584													---	29	---	---	18	---					
COL28A1	340267	broad.mit.edu	37	7	7410484	7410484	+	Frame_Shift_Del	DEL	T	-	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:7410484delT	uc003src.1	-	32	3055	c.2938delA	c.(2938-2940)attfs	p.I980fs	COL28A1_uc011jxe.1_Frame_Shift_Del_p.I663fs	NM_001037763	NP_001032852	Q2UY09	COSA1_HUMAN	Homo sapiens collagen, type XXVIII, alpha 1 (COL28A1), mRNA.	980	VWFA 2.				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		TCCTCACAAATTTTTTGAAAC	0.338													---	88	---	---	7	---					
SCIN	85477	broad.mit.edu	37	7	12668726	12668727	+	Splice_Site	INS	-	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:12668726_12668727insT	uc003ssn.4	+	9	1408	c.1198_splice	c.e9-1	p.I400_splice	SCIN_uc010ktt.3_Splice_Site|SCIN_uc003sso.4_Splice_Site_p.I153_splice	NM_001112706	NP_149119	Q9Y6U3	ADSV_HUMAN	Homo sapiens scinderin (SCIN), transcript variant 1, mRNA.	400	Ca(2+)-dependent actin binding.				actin filament capping|actin filament severing|actin nucleation|calcium ion-dependent exocytosis|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of megakaryocyte differentiation|positive regulation of secretion|regulation of chondrocyte differentiation	cell cortex|cytoskeleton	1-phosphatidylinositol binding|actin filament binding|calcium ion binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	17				UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		TTCCTTCCAGATTTGGCGTGTA	0.322													---	55	---	---	12	---					
NUPL2	11097	broad.mit.edu	37	7	23224772	23224773	+	Frame_Shift_Ins	INS	-	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:23224772_23224773insG	uc003svu.3	+	1	464_465	c.205_206insG	c.(205-207)tggfs	p.W69fs	NUPL2_uc003svv.3_Non-coding_Transcript|NUPL2_uc011jyw.2_Non-coding_Transcript	NM_007342	NP_031368	O15504	NUPL2_HUMAN	Homo sapiens nucleoporin like 2 (NUPL2), mRNA.	69					carbohydrate metabolic process|glucose transport|mRNA transport|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nuclear pore	nuclear export signal receptor activity|nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ATCCACACCATGGGGGGGCAGC	0.406													---	106	---	---	11	---					
SFRP4	6424	broad.mit.edu	37	7	37953882	37953883	+	Splice_Site	INS	-	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:37953882_37953883insA	uc003tfo.4	-	3	913	c.527_splice	c.e3-1	p.D176_splice		NM_003014	NP_003005	Q6FHJ7	SFRP4_HUMAN	Homo sapiens secreted frizzled-related protein 4 (SFRP4), mRNA.	176					Wnt receptor signaling pathway|brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of JNK cascade|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development	cell surface|cytoplasm|extracellular space|nucleus	PDZ domain binding|Wnt receptor activity|Wnt-protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						TGCACCGATCTAAAAAAGGCAG	0.426													---	91	---	---	29	---					
DTX2	113878	broad.mit.edu	37	7	76112249	76112249	+	Frame_Shift_Del	DEL	A	-	-	rs147779783	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:76112249delA	uc011kgk.1	+	2	772	c.420delA	c.(418-420)ccafs	p.P140fs	DTX2_uc003uff.4_Frame_Shift_Del_p.P231fs|DTX2_uc003ufg.4_Frame_Shift_Del_p.P231fs|DTX2_uc003ufh.4_Frame_Shift_Del_p.P231fs|DTX2_uc003ufj.4_Frame_Shift_Del_p.P231fs	NM_020892	NP_065943	Q86UW9	DTX2_HUMAN	Homo sapiens deltex homolog 2 (Drosophila) (DTX2), transcript variant 1, mRNA.	231	WWE 2.				Notch signaling pathway	cytoplasm|nucleus	protein binding|zinc ion binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						AGCACCCCCCACACAGGACCG	0.657													---	333	---	---	7	---					
DTX2P1-UPK3BP1-PMS2P11	441263	broad.mit.edu	37	7	76610356	76610356	+	RNA	DEL	C	-	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:76610356delC	uc011kgn.1	+	0		c.218delC			DTX2P1-UPK3BP1-PMS2P11_uc003ufw.4_Non-coding_Transcript					Homo sapiens DTX2P1-UPK3BP1-PMS2P11 readthrough (non-protein coding) (DTX2P1-UPK3BP1-PMS2P11), non-coding RNA.																		CCCCCCAGCACCCCCCCCACA	0.647													---	109	---	---	30	---					
DMTF1	9988	broad.mit.edu	37	7	86824052	86824052	+	Frame_Shift_Del	DEL	A	-	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:86824052delA	uc003uih.3	+	16	2407	c.2081delA	c.(2080-2082)gaafs	p.E694fs	DMTF1_uc003uii.3_Frame_Shift_Del_p.E428fs|DMTF1_uc003uij.3_Frame_Shift_Del_p.E428fs|DMTF1_uc011khb.2_Frame_Shift_Del_p.E606fs|DMTF1_uc003uik.3_Non-coding_Transcript|DMTF1_uc003uil.3_Frame_Shift_Del_p.E694fs|DMTF1_uc003uin.3_Frame_Shift_Del_p.E428fs	NM_001142327	NP_001135798	Q9Y222	DMTF1_HUMAN	Homo sapiens cyclin D binding myb-like transcription factor 1 (DMTF1), transcript variant 2, mRNA.	694	Interaction with CCND1, CCND2 and CCND3 (By similarity).|Required for transcriptional activation (By similarity).				cell cycle	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)	16	Esophageal squamous(14;0.0058)					ATTGATGATGAAACAATACTT	0.333													---	82	---	---	7	---					
DBF4	10926	broad.mit.edu	37	7	87526619	87526620	+	Frame_Shift_Ins	INS	-	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:87526619_87526620insA	uc003ujf.1	+	7	1149_1150	c.645_646insA	c.(643-648)ctcaaafs	p.L215fs	DBF4_uc003ujh.1_5'UTR|DBF4_uc003ujg.1_5'UTR|DBF4_uc011khf.1_Intron	NM_006716	NP_006707	Q9UBU7	DBF4A_HUMAN	Homo sapiens DBF4 homolog (S. cerevisiae) (DBF4), mRNA.	215					DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|cell cycle checkpoint	nucleoplasm	enzyme activator activity|nucleic acid binding|protein binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|skin(3)	28	Esophageal squamous(14;0.00202)	Breast(660;0.0334)				CAGGAAGACTCAAAAAGCCTTT	0.317													---	451	---	---	7	---					
SAMD9	54809	broad.mit.edu	37	7	92730919	92730919	+	Frame_Shift_Del	DEL	T	-	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:92730919delT	uc003umf.3	-	2	4762	c.4492delA	c.(4492-4494)attfs	p.I1498fs	SAMD9_uc003umg.3_Frame_Shift_Del_p.I1498fs|SAMD9_uc022ahg.1_Frame_Shift_Del_p.I1498fs	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	Homo sapiens sterile alpha motif domain containing 9 (SAMD9), transcript variant 1, mRNA.	1498						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			CACTGGTCAATTTTTCCTTTG	0.378													---	101	---	---	13	---					
AP1S1	1174	broad.mit.edu	37	7	100802404	100802405	+	Frame_Shift_Ins	INS	-	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100802404_100802405insG	uc003uxv.4	+	3	466_467	c.356_357insG	c.(355-357)atgfs	p.M119fs	MIR4653_uc022aiy.1_5'Flank	NM_001283	NP_001274	P61966	AP1S1_HUMAN	Homo sapiens adaptor-related protein complex 1, sigma 1 subunit (AP1S1), mRNA.	119					intracellular protein transport|post-Golgi vesicle-mediated transport|receptor-mediated endocytosis|regulation of defense response to virus by virus|response to virus|viral reproduction	AP-1 adaptor complex|coated pit|cytosol|lysosomal membrane	protein binding|protein transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)	8	Lung NSC(181;0.168)|all_lung(186;0.215)					GAGTTTTTGATGGGGGGGGATG	0.564													---	40	---	---	12	---					
GPR22	2845	broad.mit.edu	37	7	107114902	107114903	+	Frame_Shift_Ins	INS	-	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:107114902_107114903insT	uc003vef.3	+	2	1743_1744	c.397_398insT	c.(397-399)gttfs	p.V133fs	COG5_uc003vec.2_Intron|COG5_uc003ved.2_Intron|COG5_uc003vee.2_Intron|GPR22_uc022ajv.1_Frame_Shift_Ins_p.V133fs	NM_005295	NP_005286	Q99680	GPR22_HUMAN	Homo sapiens G protein-coupled receptor 22 (GPR22), mRNA.	133						integral to plasma membrane	G-protein coupled receptor activity			large_intestine(3)|lung(6)|ovary(2)|stomach(1)	12						AGCAATCAACGTTTTTGCTATC	0.391													---	75	---	---	92	---					
TFEC	22797	broad.mit.edu	37	7	115594657	115594657	+	Frame_Shift_Del	DEL	T	-	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:115594657delT	uc003vhj.2	-	4	675	c.422delA	c.(421-423)aagfs	p.K141fs	TFEC_uc003vhm.2_Frame_Shift_Del_p.K74fs|TFEC_uc003vhk.2_Frame_Shift_Del_p.K112fs|TFEC_uc003vhl.4_Frame_Shift_Del_p.K112fs|TFEC_uc011kmw.2_Frame_Shift_Del_p.K231fs	NM_012252	NP_036384	O14948	TFEC_HUMAN	Homo sapiens transcription factor EC (TFEC), transcript variant 1, mRNA.	141	Helix-loop-helix motif.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity	p.K141fs*42(2)		NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2)	25			STAD - Stomach adenocarcinoma(10;0.00878)			GTGGTTGTCCTTTTTTTGTCT	0.333													---	82	---	---	18	---					
CPA1	1357	broad.mit.edu	37	7	130023239	130023240	+	Frame_Shift_Ins	INS	-	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:130023239_130023240insG	uc003vpx.3	+	4	563_564	c.491_492insG	c.(490-492)acgfs	p.T164fs	CPA1_uc011kpf.1_Frame_Shift_Ins_p.T76fs|CPA1_uc003vpw.2_Intron	NM_001868	NP_001859	P15085	CBPA1_HUMAN	Homo sapiens carboxypeptidase A1 (pancreatic) (CPA1), mRNA.	164					proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(18;0.0435)					CAGTTCAGCACGGGGGGCAGTA	0.614													---	44	---	---	12	---					
EPHB6	2051	broad.mit.edu	37	7	142561789	142561794	+	In_Frame_Del	DEL	GGCAGG	-	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:142561789_142561794delGGCAGG	uc011kst.2	+	6	1018_1023	c.231_236delGGCAGG	c.(229-237)gtggcaggg>gtg	p.AG78del	EPHB6_uc011ksu.2_In_Frame_Del_p.AG78del|EPHB6_uc003wbs.3_5'UTR|EPHB6_uc003wbt.3_5'UTR|EPHB6_uc003wbu.3_5'UTR	NM_004445	NP_004436	O15197	EPHB6_HUMAN	Homo sapiens EPH receptor B6 (EPHB6), mRNA.	78						extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					CATGTCATGTGGCAGGGGCCCCTCCA	0.636													---	320	---	---	7	---					
TAS2R41	259287	broad.mit.edu	37	7	143175406	143175407	+	Frame_Shift_Ins	INS	-	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:143175406_143175407insT	uc003wdc.1	+	0	441_442	c.441_442insT	c.(439-444)ctgtttfs	p.L147fs	LOC285965_uc003wda.3_Intron	NM_176883	NP_795364	P59536	T2R41_HUMAN	Homo sapiens taste receptor, type 2, member 41 (TAS2R41), mRNA.	147					sensory perception of taste	integral to membrane	G-protein coupled receptor activity	p.L147L(2)		endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18	Melanoma(164;0.15)					TAACCCTGCTGTTTTTTTGGGT	0.441													---	57	---	---	20	---					
OR2A7	401427	broad.mit.edu	37	7	143956719	143956720	+	Splice_Site	INS	-	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:143956719_143956720insA	uc011kuc.2	-	1	1	c.1_splice	c.e1-1	p.M1_splice	OR2A9P_uc003wec.1_Intron|OR2A7_uc003wef.3_Non-coding_Transcript	NM_001005328	NP_001005328	Q96R45	OR2A7_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 7 (OR2A7), mRNA.	1					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)	6	Melanoma(164;0.14)					TATTGTCCCCCATATCCCTATG	0.436													---	435	---	---	9	---					
NAT1	9	broad.mit.edu	37	8	18080414	18080415	+	Frame_Shift_Ins	INS	-	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:18080414_18080415insT	uc010ltd.3	+	4	1225_1226	c.858_859insT	c.(856-861)agatttfs	p.R286fs	NAT1_uc003wyt.3_Frame_Shift_Ins_p.R348fs|NAT1_uc003wyu.3_Frame_Shift_Ins_p.R286fs|NAT1_uc003wyv.3_Frame_Shift_Ins_p.R286fs|NAT1_uc010ltc.3_Frame_Shift_Ins_p.R286fs|NAT1_uc003wys.3_Frame_Shift_Ins_p.R348fs|NAT1_uc003wyr.3_Frame_Shift_Ins_p.R286fs|NAT1_uc003wyq.3_Frame_Shift_Ins_p.R286fs|NAT1_uc011kyl.2_Frame_Shift_Ins_p.R286fs	NM_001160179	NP_001153651	P18440	ARY1_HUMAN	Homo sapiens N-acetyltransferase 1 (arylamine N-acetyltransferase) (NAT1), transcript variant 9, mRNA.	286					xenobiotic metabolic process	cytosol	arylamine N-acetyltransferase activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(2)|urinary_tract(1)	9				Colorectal(111;0.0519)|COAD - Colon adenocarcinoma(73;0.208)		ATGGTGATAGATTTTTTACTAT	0.342													---	39	---	---	30	---					
SFRP1	6422	broad.mit.edu	37	8	41122976	41122977	+	Frame_Shift_Ins	INS	-	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:41122976_41122977insT	uc003xnt.3	-	2	966_967	c.654_655insA	c.(652-657)aaagaafs	p.K218fs		NM_003012	NP_003003	Q8N474	SFRP1_HUMAN	Homo sapiens secreted frizzled-related protein 1 (SFRP1), mRNA.	218	NTR.				DNA fragmentation involved in apoptotic nuclear change|brain development|canonical Wnt receptor signaling pathway|cellular response to BMP stimulus|cellular response to estradiol stimulus|cellular response to fibroblast growth factor stimulus|cellular response to heparin|cellular response to hypoxia|cellular response to interleukin-1|cellular response to prostaglandin E stimulus|cellular response to starvation|cellular response to transforming growth factor beta stimulus|cellular response to tumor necrosis factor|cellular response to vitamin D|dorsal/ventral axis specification|hemopoietic progenitor cell differentiation|hemopoietic stem cell differentiation|menstrual cycle phase|negative regulation of B cell differentiation|negative regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|negative regulation of androgen receptor signaling pathway|negative regulation of bone remodeling|negative regulation of canonical Wnt receptor signaling pathway involved in controlling type B pancreatic cell proliferation|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cysteine-type endopeptidase activity|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast apoptosis|negative regulation of fibroblast proliferation|negative regulation of insulin secretion|negative regulation of ossification|negative regulation of osteoblast proliferation|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of Rac GTPase activity|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell growth|positive regulation of epithelial cell proliferation|positive regulation of fat cell differentiation|positive regulation of fibroblast apoptosis|positive regulation of focal adhesion assembly|positive regulation of non-canonical Wnt receptor signaling pathway|positive regulation of smoothened signaling pathway|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|regulation of angiogenesis|regulation of cell cycle process|response to drug|response to organic cyclic compound|vasculature development	cell surface|cytosol|extracellular space|plasma membrane|proteinaceous extracellular matrix	PDZ domain binding|Wnt receptor activity|Wnt-protein binding|cysteine-type endopeptidase activity|drug binding|frizzled binding|heparin binding|identical protein binding			breast(1)|central_nervous_system(1)|large_intestine(2)|liver(1)|lung(1)|skin(1)	7	Breast(1;9.19e-13)|Ovarian(28;0.00769)|Colorectal(14;0.0305)|Lung SC(25;0.211)	all_lung(54;0.0034)|Lung NSC(58;0.0134)|Hepatocellular(245;0.023)|Esophageal squamous(32;0.0559)	BRCA - Breast invasive adenocarcinoma(1;1.11e-10)|LUSC - Lung squamous cell carcinoma(45;0.00894)|COAD - Colon adenocarcinoma(11;0.0174)			TCGCCATTTTCTTTTTTCACTT	0.421													---	36	---	---	18	---					
PREX2	80243	broad.mit.edu	37	8	68995502	68995503	+	Frame_Shift_Ins	INS	-	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:68995502_68995503insT	uc003xxv.1	+	17	1933_1934	c.1906_1907insT	c.(1906-1908)attfs	p.I636fs	PREX2_uc003xxu.1_Frame_Shift_Ins_p.I636fs|PREX2_uc011lez.1_Frame_Shift_Ins_p.I571fs	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	636	PDZ 1.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						CGGGAAAAAGATTTTTGCTATT	0.317													---	62	---	---	29	---					
SAMD12	401474	broad.mit.edu	37	8	119593026	119593027	+	Frame_Shift_Ins	INS	-	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:119593026_119593027insT	uc003yom.2	-	1	248_249	c.119_120insA	c.(118-120)aatfs	p.N40fs	SAMD12_uc010mda.1_Frame_Shift_Ins_p.N40fs|SAMD12_uc010mdb.1_Non-coding_Transcript	NM_207506	NP_997389	Q8N8I0	SAM12_HUMAN	Homo sapiens sterile alpha motif domain containing 12 (SAMD12), transcript variant 2, mRNA.	40										endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)	9	all_cancers(13;3.91e-25)|Lung NSC(37;1.13e-07)|Ovarian(258;0.0249)		STAD - Stomach adenocarcinoma(47;0.00391)			GGAAATTTTTATTTTTAATGGA	0.450													---	55	---	---	26	---					
KIAA0196	9897	broad.mit.edu	37	8	126073352	126073353	+	Frame_Shift_Ins	INS	-	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:126073352_126073353insT	uc003yrt.3	-	11	1821_1822	c.1492_1493insA	c.(1492-1494)actfs	p.T498fs	KIAA0196_uc011lir.2_Frame_Shift_Ins_p.T350fs	NM_014846	NP_055661	Q12768	STRUM_HUMAN	Homo sapiens KIAA0196 (KIAA0196), mRNA.	498					cell death	WASH complex				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			CAGTTGTACAGTTTTTCTGCCC	0.376													---	34	---	---	10	---					
C9orf72	203228	broad.mit.edu	37	9	27548406	27548406	+	Frame_Shift_Del	DEL	T	-	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:27548406delT	uc003zqq.2	-	10	1371	c.1274delA	c.(1273-1275)aagfs	p.K425fs	C9orf72_uc022bfa.1_Frame_Shift_Del_p.K425fs	NM_018325	NP_060795	Q96LT7	CI072_HUMAN	Homo sapiens chromosome 9 open reading frame 72 (C9orf72), transcript variant 2, mRNA.	425										breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|pancreas(1)	23		all_neural(11;7.57e-10)		LUSC - Lung squamous cell carcinoma(38;0.0001)|Lung(218;0.00016)		TTTAAAGGGCTTTTTTCCCTT	0.318													---	39	---	---	26	---					
SMC5	23137	broad.mit.edu	37	9	72962005	72962006	+	Frame_Shift_Ins	INS	-	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:72962005_72962006insT	uc004ahr.2	+	19	2709_2710	c.2592_2593insT	c.(2590-2595)acattgfs	p.T864fs	SMC5_uc011lry.1_Frame_Shift_Ins_p.T9fs	NM_015110	NP_055925	Q8IY18	SMC5_HUMAN	Homo sapiens structural maintenance of chromosomes 5 (SMC5), mRNA.	864					DNA recombination|DNA repair	chromosome|nucleus	ATP binding			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(4)	35						TTCCAAACACATTGGATGAAAT	0.356													---	50	---	---	7	---					
TRPM6	140803	broad.mit.edu	37	9	77386687	77386687	+	Frame_Shift_Del	DEL	T	-	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:77386687delT	uc004ajl.1	-	24	3706	c.3468delA	c.(3466-3468)aaafs	p.K1156fs	TRPM6_uc004ajk.1_Frame_Shift_Del_p.K1151fs|TRPM6_uc022bib.1_Frame_Shift_Del_p.K1151fs|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron|TRPM6_uc004ajj.1_Frame_Shift_Del_p.K112fs	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 6 (TRPM6), transcript variant a, mRNA.	1156					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						CATGGAAGTATTTTTCCACGC	0.353													---	81	---	---	14	---					
C9orf156	51531	broad.mit.edu	37	9	100667245	100667246	+	Frame_Shift_Ins	INS	-	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:100667245_100667246insA	uc004axv.1	-	4	1172_1173	c.1095_1096insT	c.(1093-1098)tttcagfs	p.F365fs	C9orf156_uc004axw.1_Frame_Shift_Ins_p.F262fs	NM_016481	NP_057565	Q9BU70	NAP1_HUMAN	Homo sapiens chromosome 9 open reading frame 156 (C9orf156), mRNA.	365					interspecies interaction between organisms		hydrolase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)	13		Acute lymphoblastic leukemia(62;0.158)				TCTGCTGACTGAAAATATTTAA	0.436													---	59	---	---	28	---					
C9orf84	158401	broad.mit.edu	37	9	114456636	114456636	+	Frame_Shift_Del	DEL	T	-	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:114456636delT	uc004bfr.3	-	22	3133	c.2998delA	c.(2998-3000)attfs	p.I1000fs	C9orf84_uc011lwt.2_Non-coding_Transcript|C9orf84_uc004bfq.3_Frame_Shift_Del_p.I961fs|C9orf84_uc010mug.3_Frame_Shift_Del_p.I911fs	NM_173521	NP_775792	Q5VXU9	CI084_HUMAN	Homo sapiens chromosome 9 open reading frame 84 (C9orf84), transcript variant 1, mRNA.	1000										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						CCTGGGGCAATTATAAGCTAA	0.294													---	308	---	---	30	---					
C9orf114	51490	broad.mit.edu	37	9	131591120	131591120	+	Frame_Shift_Del	DEL	T	-	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:131591120delT	uc004bwd.3	-	2	143	c.102delA	c.(100-102)aaafs	p.K34fs		NM_016390	NP_057474	Q5T280	CI114_HUMAN	Homo sapiens chromosome 9 open reading frame 114 (C9orf114), mRNA.	34										kidney(2)|large_intestine(4)|ovary(1)	7						GATCCTTCCATTTTTTTTTCT	0.527													---	111	---	---	66	---					
KIN	22944	broad.mit.edu	37	10	7817764	7817765	+	Splice_Site	INS	-	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:7817764_7817765insA	uc001ijt.3	-	6	653	c.559_splice	c.e6-1	p.E187_splice	KIN_uc010qaz.2_Splice_Site|KIN_uc010qba.2_Splice_Site_p.E81_splice	NM_012311	NP_036443	O60870	KIN17_HUMAN	Homo sapiens KIN, antigenic determinant of recA protein homolog (mouse) (KIN), transcript variant 1, mRNA.	187					DNA recombination|DNA repair|DNA replication|interspecies interaction between organisms|mRNA processing	cytoplasm|nuclear matrix	RNA binding|double-stranded DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(2)	19						AGGGACCTCCTAAAAAAAAGAA	0.317													---	25	---	---	12	---					
SGPL1	8879	broad.mit.edu	37	10	72637079	72637080	+	Frame_Shift_Ins	INS	-	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:72637079_72637080insA	uc001jrm.3	+	14	1916_1917	c.1694_1695insA	c.(1693-1695)ccafs	p.P565fs	SGPL1_uc009xqk.3_Non-coding_Transcript	NM_003901	NP_003892	O95470	SGPL1_HUMAN	Homo sapiens sphingosine-1-phosphate lyase 1 (SGPL1), mRNA.	565					apoptosis|carboxylic acid metabolic process|ceramide metabolic process|sphingolipid catabolic process	integral to endoplasmic reticulum membrane	carboxy-lyase activity|pyridoxal phosphate binding|sphinganine-1-phosphate aldolase activity			large_intestine(4)	4					Pyridoxal Phosphate(DB00114)	AATGGTTCTCCAAAACCCCACT	0.500													---	59	---	---	8	---					
CAMK2G	818	broad.mit.edu	37	10	75609093	75609094	+	Splice_Site	INS	-	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:75609093_75609094insA	uc001jvv.2	-	6	448	c.318_splice	c.e6-1	p.S106_splice	CAMK2G_uc001jvs.2_Splice_Site_p.S114_splice|CAMK2G_uc001jvm.2_Splice_Site_p.S114_splice|CAMK2G_uc001jvo.2_Splice_Site_p.S114_splice|CAMK2G_uc001jvp.2_Splice_Site_p.S114_splice|CAMK2G_uc001jvq.2_Splice_Site_p.S114_splice|CAMK2G_uc001jvr.2_Splice_Site_p.S114_splice|CAMK2G_uc001jvt.2_Splice_Site|CAMK2G_uc010qkv.2_Intron	NM_172171	NP_751911	Q13555	KCC2G_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase II gamma (CAMK2G), transcript variant 1, mRNA.	114	Protein kinase.				insulin secretion|interferon-gamma-mediated signaling pathway|synaptic transmission	calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calcium-dependent protein serine/threonine phosphatase activity|calmodulin binding|calmodulin-dependent protein kinase activity			kidney(2)|large_intestine(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	15	Prostate(51;0.0112)					ATACAGTGGCTAAAAAAGCAGA	0.515											OREG0020267	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	22	---	---	12	---					
HELLS	3070	broad.mit.edu	37	10	96317912	96317912	+	Frame_Shift_Del	DEL	A	-	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:96317912delA	uc009xuo.3	+	3	398	c.293delA	c.(292-294)gaafs	p.E98fs	HELLS_uc001kjs.3_Frame_Shift_Del_p.E82fs|HELLS_uc001kjt.3_Frame_Shift_Del_p.E98fs|HELLS_uc009xul.3_Frame_Shift_Del_p.E98fs|HELLS_uc009xum.3_Frame_Shift_Del_p.E98fs|HELLS_uc009xun.3_5'UTR|HELLS_uc001kju.3_5'UTR|HELLS_uc009xup.3_Non-coding_Transcript|HELLS_uc009xuq.3_5'UTR|HELLS_uc009xur.3_Non-coding_Transcript	NM_018063	NP_060533	Q9NRZ9	HELLS_HUMAN	Homo sapiens helicase, lymphoid-specific (HELLS), mRNA.	98					cell division|centromeric heterochromatin formation|lymphocyte proliferation|maintenance of DNA methylation|methylation-dependent chromatin silencing|mitosis|transcription, DNA-dependent	centromeric heterochromatin|nucleus	ATP binding|DNA binding|helicase activity	p.E98*(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		Colorectal(252;0.0429)		all cancers(201;2.13e-05)		AAGAAGAAAGAAAAATTGGAG	0.269													---	57	---	---	24	---					
ZNF518A	9849	broad.mit.edu	37	10	97917704	97917704	+	Frame_Shift_Del	DEL	A	-	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:97917704delA	uc001klp.3	+	5	2482	c.1625delA	c.(1624-1626)caafs	p.Q542fs	ZNF518A_uc001klo.1_Frame_Shift_Del_p.Q12fs|ZNF518A_uc001klq.3_Frame_Shift_Del_p.Q542fs|ZNF518A_uc001klr.3_Frame_Shift_Del_p.Q542fs	NM_014803	NP_055618	Q6AHZ1	Z518A_HUMAN	Homo sapiens zinc finger protein 518A (ZNF518A), mRNA.	542					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.L541I(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		AATATGCTTCAAACAATGGAT	0.323													---	105	---	---	10	---					
BTRC	8945	broad.mit.edu	37	10	103292718	103292718	+	Frame_Shift_Del	DEL	A	-	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:103292718delA	uc001kta.3	+	8	1101	c.988delA	c.(988-990)aaafs	p.K330fs	BTRC_uc001ktb.3_Frame_Shift_Del_p.K294fs|BTRC_uc001ktc.3_Frame_Shift_Del_p.K304fs	NM_033637	NP_378663	Q9Y297	FBW1A_HUMAN	Homo sapiens beta-transducin repeat containing (BTRC), transcript variant 1, mRNA.	330					Wnt receptor signaling pathway|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction	SCF ubiquitin ligase complex|cytosol|nucleus				endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27		Colorectal(252;0.234)		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)		GATCTGGGATAAAAACACATT	0.438													---	112	---	---	8	---					
ABCC8	6833	broad.mit.edu	37	11	17429002	17429003	+	Splice_Site	INS	-	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:17429002_17429003insA	uc001mnc.3	-	24	2947	c.2821_splice	c.e24-1	p.E941_splice		NM_000352	NP_000343	Q09428	ABCC8_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 8 (ABCC8), mRNA.	941					carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	GACAGTCTCCTAAAAGACAGAT	0.520													---	40	---	---	27	---					
HNRNPKP3	399881	broad.mit.edu	37	11	43283606	43283608	+	RNA	DEL	AAA	-	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:43283606_43283608delAAA	uc001mxe.1	-	1		c.1328_1330delTTT								Homo sapiens heterogeneous nuclear ribonucleoprotein K pseudogene 3 (HNRNPKP3), non-coding RNA.																		AAGCAAATGTAAAAAAAAAAAAA	0.389													---	4	---	---	2	---					
SSH3	54961	broad.mit.edu	37	11	67074909	67074910	+	Splice_Site	INS	-	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:67074909_67074910insA	uc001okj.3	+	6	780	c.602_splice	c.e6+2	p.W201_splice	SSH3_uc001okk.3_Splice_Site|SSH3_uc001okl.3_Splice_Site_p.W55_splice	NM_017857	NP_060327	Q8TE77	SSH3_HUMAN	Homo sapiens slingshot homolog 3 (Drosophila) (SSH3), mRNA.	201					regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton|nucleus	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			GACCATGTGGTAAGGACAGAGA	0.619													---	19	---	---	9	---					
PITPNM1	9600	broad.mit.edu	37	11	67267648	67267649	+	Frame_Shift_Ins	INS	-	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:67267648_67267649insG	uc001olx.3	-	4	1073_1074	c.884_885insC	c.(883-885)ccafs	p.P295fs	PITPNM1_uc001olw.3_5'Flank|PITPNM1_uc001oly.3_Frame_Shift_Ins_p.P295fs|PITPNM1_uc001olz.3_Frame_Shift_Ins_p.P295fs	NM_004910	NP_004901	O00562	PITM1_HUMAN	Homo sapiens phosphatidylinositol transfer protein, membrane-associated 1 (PITPNM1), transcript variant 1, mRNA.	295					brain development|lipid metabolic process|phototransduction|protein transport	Golgi cisterna membrane|cleavage furrow|endoplasmic reticulum membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						CATCTGGGCCTGGGGGGGCCTC	0.693													---	52	---	---	16	---					
RSF1	51773	broad.mit.edu	37	11	77412163	77412164	+	Frame_Shift_Ins	INS	-	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:77412163_77412164insT	uc001oyn.3	-	5	2230_2231	c.2110_2111insA	c.(2110-2112)agcfs	p.S704fs	RSF1_uc001oym.3_Frame_Shift_Ins_p.S452fs	NM_016578	NP_057662	Q96T23	RSF1_HUMAN	Homo sapiens remodeling and spacing factor 1 (RSF1), mRNA.	704					CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			TTTGAATTTGCTTTTTTGCATA	0.406													---	74	---	---	47	---					
SLC36A4	120103	broad.mit.edu	37	11	92917608	92917609	+	Frame_Shift_Ins	INS	-	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:92917608_92917609insT	uc001pdn.3	-	2	354_355	c.257_258insA	c.(256-258)aatfs	p.N86fs	SLC36A4_uc001pdm.3_5'UTR	NM_152313	NP_689526	Q6YBV0	S36A4_HUMAN	Homo sapiens solute carrier family 36 (proton/amino acid symporter), member 4 (SLC36A4), mRNA.	86					L-alanine transport|proline transport|tryptophan transport	integral to membrane	symporter activity	p.K85Q(1)|p.N86fs*4(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	25		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				CTATGCCTGCATTTTTTATTGC	0.351													---	144	---	---	111	---					
MTMR2	8898	broad.mit.edu	37	11	95582927	95582928	+	Frame_Shift_Ins	INS	-	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:95582927_95582928insT	uc001pfu.3	-	8	1156_1157	c.903_904insA	c.(901-906)aaatacfs	p.K301fs	MTMR2_uc001pfv.3_Frame_Shift_Ins_p.K229fs|MTMR2_uc001pfs.3_Frame_Shift_Ins_p.K229fs|MTMR2_uc001pft.3_Frame_Shift_Ins_p.K229fs|MTMR2_uc010ruj.1_Frame_Shift_Ins_p.K284fs	NM_016156	NP_958438	Q13614	MTMR2_HUMAN	Homo sapiens myotubularin related protein 2 (MTMR2), transcript variant 1, mRNA.	301	Myotubularin phosphatase.					nucleus	inositol or phosphatidylinositol phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	19		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				GCTTGAAGGTATTTTTCATCTT	0.441													---	130	---	---	77	---					
C11orf70	85016	broad.mit.edu	37	11	101937226	101937227	+	Frame_Shift_Ins	INS	-	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:101937226_101937227insA	uc001pgp.3	+	3	312_313	c.279_280insA	c.(277-282)gtgaaafs	p.V93fs	C11orf70_uc001pgo.3_Intron|C11orf70_uc001pgq.3_Frame_Shift_Ins_p.V55fs	NM_032930	NP_116319	Q9BRQ4	CK070_HUMAN	Homo sapiens chromosome 11 open reading frame 70 (C11orf70), transcript variant 1, mRNA.	93										breast(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|skin(2)	12	all_epithelial(12;0.0137)	Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.0137)	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0335)		GAACTGAAGTGAAAAAAATTGA	0.287													---	36	---	---	30	---					
MMP12	4321	broad.mit.edu	37	11	102736573	102736574	+	Frame_Shift_Ins	INS	-	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:102736573_102736574insT	uc001phk.3	-	8	1232_1233	c.1135_1136insA	c.(1135-1137)attfs	p.I379fs		NM_002426	NP_002417	P39900	MMP12_HUMAN	Homo sapiens matrix metallopeptidase 12 (macrophage elastase) (MMP12), mRNA.	380					positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)	AGCTGCATCAATTTTTTTCACA	0.366													---	25	---	---	10	---					
DYNC2H1	79659	broad.mit.edu	37	11	103039600	103039600	+	Frame_Shift_Del	DEL	A	-	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:103039600delA	uc001phn.1	+	31	5023	c.4879delA	c.(4879-4881)aaafs	p.K1627fs	DYNC2H1_uc009yxe.1_Intron|DYNC2H1_uc001pho.2_Frame_Shift_Del_p.K1627fs	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	Homo sapiens dynein, cytoplasmic 2, heavy chain 1 (DYNC2H1), transcript variant 2, mRNA.	1627	Stem (By similarity).				Golgi organization|cell projection organization|microtubule-based movement|multicellular organismal development	Golgi apparatus|cilium axoneme|dynein complex|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		CTGGGCTTGGAAAAAACAACT	0.323													---	42	---	---	7	---					
CASP5	838	broad.mit.edu	37	11	104874010	104874011	+	Frame_Shift_Ins	INS	-	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:104874010_104874011insT	uc010ruz.1	-	3	604_605	c.572_573insA	c.(571-573)aatfs	p.N191fs	CASP5_uc010rva.1_Frame_Shift_Ins_p.N178fs|CASP5_uc010rvb.1_Frame_Shift_Ins_p.N120fs|CASP5_uc010rvc.1_Frame_Shift_Ins_p.N36fs|CASP5_uc009yxh.2_Intron|CASP5_uc010rvd.1_Intron	NM_001136112	NP_001129584	P51878	CASP5_HUMAN	Homo sapiens caspase 5, apoptosis-related cysteine peptidase (CASP5), transcript variant f, mRNA.	178					apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis	intracellular	cysteine-type endopeptidase activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		CCTCATCATGATTTTTTTTACA	0.401													---	131	---	---	25	---					
CUL5	8065	broad.mit.edu	37	11	107965657	107965658	+	Frame_Shift_Ins	INS	-	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:107965657_107965658insA	uc001pjv.3	+	14	2353_2354	c.1686_1687insA	c.(1684-1689)tacaaafs	p.Y562fs	CUL5_uc001pju.3_Non-coding_Transcript	NM_003478	NP_003469	Q93034	CUL5_HUMAN	Homo sapiens cullin 5 (CUL5), mRNA.	562					G1/S transition of mitotic cell cycle|cell cycle arrest|cell proliferation|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process|viral reproduction	cullin-RING ubiquitin ligase complex|cytosol	calcium channel activity|receptor activity|ubiquitin protein ligase binding			endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217)		AAGAATTCTACAAAAAAAATCA	0.371													---	49	---	---	41	---					
EXPH5	23086	broad.mit.edu	37	11	108409862	108409862	+	Frame_Shift_Del	DEL	T	-	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:108409862delT	uc001pkk.3	-	2	443	c.332delA	c.(331-333)aagfs	p.K111fs	EXPH5_uc010rvz.2_5'Flank|EXPH5_uc010rvy.2_5'Flank	NM_015065	NP_055880	Q149M6	Q149M6_HUMAN	Homo sapiens exophilin 5 (EXPH5), mRNA.	111					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		AGGTGTCGGCTTTTTTTGATT	0.348													---	127	---	---	7	---					
LAYN	143903	broad.mit.edu	37	11	111425990	111425991	+	Frame_Shift_Ins	INS	-	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:111425990_111425991insA	uc001plr.1	+	5	993_994	c.657_658insA	c.(655-660)gccaaafs	p.A219fs	LAYN_uc001plp.1_Frame_Shift_Ins_p.A211fs|LAYN_uc010rwg.1_Frame_Shift_Ins_p.A66fs|LAYN_uc010rwh.2_Frame_Shift_Ins_p.A67fs	NM_178834	NP_849156	Q6UX15	LAYN_HUMAN	Homo sapiens layilin (LAYN), mRNA.	219				A -> T (in Ref. 2; BAB70978).		cell surface|integral to membrane|ruffle	hyaluronic acid binding|sugar binding	p.T214fs*10(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|skin(1)	14		all_cancers(61;9.06e-10)|all_epithelial(67;1.34e-05)|Melanoma(852;1.74e-05)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.086)		Epithelial(105;1.5e-06)|BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|all cancers(92;2.45e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0476)		AAGAAGATGCCAAAAAAACATT	0.406													---	36	---	---	25	---					
MCAM	4162	broad.mit.edu	37	11	119182354	119182355	+	Frame_Shift_Ins	INS	-	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:119182354_119182355insG	uc001pwf.3	-	10	1321_1322	c.1292_1293insC	c.(1291-1293)cctfs	p.P431fs	MCAM_uc001pwg.1_5'Flank	NM_006500	NP_006491	P43121	MUC18_HUMAN	Homo sapiens melanoma cell adhesion molecule (MCAM), mRNA.	431	Ig-like C2-type 3.				anatomical structure morphogenesis|cell adhesion	integral to membrane|plasma membrane				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|skin(1)	22		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		ATGCCATCCAAGGGGGGCCTTG	0.609													---	54	---	---	46	---					
C11orf63	79864	broad.mit.edu	37	11	122775123	122775123	+	Frame_Shift_Del	DEL	A	-	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:122775123delA	uc001pym.3	+	2	1132	c.835delA	c.(835-837)aaafs	p.K279fs	C11orf63_uc001pyl.1_Frame_Shift_Del_p.K279fs	NM_024806	NP_079082	Q6NUN7	CK063_HUMAN	Homo sapiens chromosome 11 open reading frame 63 (C11orf63), transcript variant 1, mRNA.	279										breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		ACTTCACAATAAAAAAAGAGG	0.403													---	325	---	---	26	---					
OR8A1	390275	broad.mit.edu	37	11	124440612	124440613	+	Frame_Shift_Ins	INS	-	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:124440612_124440613insT	uc010san.2	+	0	648_649	c.648_649insT	c.(646-651)ttctttfs	p.F216fs		NM_001005194	NP_001005194	Q8NGG7	OR8A1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily A, member 1 (OR8A1), mRNA.	216					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2)	22		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)		TGACAGTCTTCTTTTCGGCTGG	0.480													---	54	---	---	32	---					
SRPR	6734	broad.mit.edu	37	11	126137106	126137107	+	Frame_Shift_Ins	INS	-	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:126137106_126137107insT	uc001qdh.3	-	3	667_668	c.489_490insA	c.(487-492)aaagcafs	p.K163fs	SRPR_uc010sbm.2_Frame_Shift_Ins_p.K135fs|FOXRED1_uc001qdi.3_5'Flank|FOXRED1_uc010sbn.2_5'Flank|FOXRED1_uc010sbq.2_5'Flank|FOXRED1_uc010sbo.2_5'Flank|FOXRED1_uc010sbp.2_5'Flank|FOXRED1_uc010sbr.2_5'Flank	NM_003139	NP_003130	P08240	SRPR_HUMAN	Homo sapiens signal recognition particle receptor (docking protein) (SRPR), transcript variant 1, mRNA.	163					SRP-dependent cotranslational protein targeting to membrane	integral to membrane|signal recognition particle receptor complex	GTP binding|GTPase activity|receptor activity|signal recognition particle binding			endometrium(7)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)	21	all_hematologic(175;0.145)			BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736)		CTATTCTTTGCTTTTTCCTTGG	0.450													---	276	---	---	17	---					
KLRC1	3821	broad.mit.edu	37	12	10603615	10603615	+	Frame_Shift_Del	DEL	T	-	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:10603615delT	uc001qyl.3	-	1	355	c.141delA	c.(139-141)aaafs	p.K47fs	KLRC1_uc009zhm.2_Frame_Shift_Del_p.K47fs|KLRC1_uc001qym.3_Frame_Shift_Del_p.K47fs|KLRC1_uc001qyn.3_Frame_Shift_Del_p.K47fs|KLRC1_uc001qyo.3_Frame_Shift_Del_p.K47fs	NM_002259	NP_998823	P26715	NKG2A_HUMAN	Homo sapiens killer cell lectin-like receptor subfamily C, member 1 (KLRC1), transcript variant 1, mRNA.	47					cell surface receptor linked signaling pathway|regulation of immune response	integral to plasma membrane	sugar binding|transmembrane receptor activity			NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|skin(1)	16						CCTGAGAAGCTTTTTGAAGGT	0.393													---	129	---	---	45	---					
TAS2R10	50839	broad.mit.edu	37	12	10978281	10978282	+	Frame_Shift_Ins	INS	-	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:10978281_10978282insA	uc001qyy.1	-	0	587_588	c.587_588insT	c.(586-588)ttafs	p.L196fs		NM_023921	NP_076410	Q9NYW0	T2R10_HUMAN	Homo sapiens taste receptor, type 2, member 10 (TAS2R10), mRNA.	196					sensory perception of taste	integral to membrane	taste receptor activity			breast(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						GGGAAATGATTAAAAAAATACA	0.347													---	88	---	---	43	---					
PLCZ1	89869	broad.mit.edu	37	12	18841024	18841025	+	Splice_Site	INS	-	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:18841024_18841025insT	uc021qvx.1	-	13	1782	c.1591_splice	c.e13+1	p.A531_splice	PLCZ1_uc001rdv.4_Splice_Site_p.A427_splice|PLCZ1_uc001rdw.4_Splice_Site_p.A272_splice|PLCZ1_uc001rdu.1_Splice_Site_p.A313_splice|PLCZ1_uc009zil.1_Splice_Site	NM_033123	NP_149114	Q86YW0	PLCZ1_HUMAN	Homo sapiens phospholipase C, zeta 1 (PLCZ1), mRNA.	531	C2.				intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					GGAGCTCACCATTTTTTTTAAT	0.292													---	98	---	---	9	---					
LRMP	4033	broad.mit.edu	37	12	25255145	25255146	+	Frame_Shift_Ins	INS	-	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:25255145_25255146insA	uc001rgh.3	+	15	1997_1998	c.903_904insA	c.(901-906)attaaafs	p.I301fs	LRMP_uc010sja.2_Frame_Shift_Ins_p.I301fs|LRMP_uc010sjc.2_Frame_Shift_Ins_p.I301fs|LRMP_uc001rgi.3_Non-coding_Transcript|LRMP_uc010sjb.2_Frame_Shift_Ins_p.I248fs|LRMP_uc010sjd.2_Frame_Shift_Ins_p.I248fs	NM_006152	NP_006143	Q12912	LRMP_HUMAN	Homo sapiens lymphoid-restricted membrane protein (LRMP), transcript variant 1, mRNA.	357					vesicle fusion|vesicle targeting	endoplasmic reticulum membrane|integral to plasma membrane				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Colorectal(261;0.11)					ACTGCCAAATTAAAAAACGTTC	0.297													---	27	---	---	18	---					
PUS7L	83448	broad.mit.edu	37	12	44139908	44139909	+	Frame_Shift_Ins	INS	-	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:44139908_44139909insT	uc001rns.4	-	3	1283_1284	c.1203_1204insA	c.(1201-1206)aaacaafs	p.K401fs	PUS7L_uc001rnq.4_Frame_Shift_Ins_p.K401fs|PUS7L_uc001rnr.4_Frame_Shift_Ins_p.K401fs|PUS7L_uc009zkb.3_Frame_Shift_Ins_p.K88fs	NM_031292	NP_112582	Q9H0K6	PUS7L_HUMAN	Homo sapiens pseudouridylate synthase 7 homolog (S. cerevisiae)-like (PUS7L), transcript variant 3, mRNA.	401					pseudouridine synthesis|tRNA processing		RNA binding|pseudouridine synthase activity	p.K400>?(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)		GBM - Glioblastoma multiforme(48;0.0402)		TCATTTATTTGTTTTTTTAAAT	0.317													---	24	---	---	14	---					
LARP4	113251	broad.mit.edu	37	12	50829360	50829361	+	Frame_Shift_Ins	INS	-	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:50829360_50829361insA	uc001rwp.2	+	4	690_691	c.488_489insA	c.(487-489)atafs	p.I163fs	LARP4_uc001rwq.2_Frame_Shift_Ins_p.I163fs|LARP4_uc001rwt.2_Frame_Shift_Ins_p.I163fs|LARP4_uc001rws.2_Frame_Shift_Ins_p.I162fs|LARP4_uc001rwr.2_Frame_Shift_Ins_p.I163fs|LARP4_uc021qxv.1_Frame_Shift_Ins_p.I93fs|LARP4_uc009zlr.1_5'Flank|LARP4_uc001rwm.3_Frame_Shift_Ins_p.I163fs|LARP4_uc001rwn.3_Frame_Shift_Ins_p.I93fs	NM_052879	NP_443111	Q71RC2	LARP4_HUMAN	Homo sapiens La ribonucleoprotein domain family, member 4 (LARP4), transcript variant 1, mRNA.	163	HTH La-type RNA-binding.						RNA binding|nucleotide binding			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						ATGGAAGAAATAAAAAAGTTGA	0.287													---	56	---	---	23	---					
TMEM5	10329	broad.mit.edu	37	12	64174847	64174847	+	Frame_Shift_Del	DEL	A	-	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:64174847delA	uc001srq.1	+	1	322	c.218delA	c.(217-219)gaafs	p.E73fs	TMEM5_uc001srs.1_5'UTR	NM_014254	NP_055069	Q9Y2B1	TMEM5_HUMAN	Homo sapiens transmembrane protein 5 (TMEM5), mRNA.	73						integral to plasma membrane				breast(1)|large_intestine(3)|liver(2)|lung(7)|prostate(1)|skin(1)	15		Myeloproliferative disorder(1001;0.0255)	BRCA - Breast invasive adenocarcinoma(9;0.0985)	GBM - Glioblastoma multiforme(28;9e-08)|BRCA - Breast invasive adenocarcinoma(357;0.000175)		GAAGGAGATGAAAAAAATGAG	0.358													---	68	---	---	7	---					
CAND1	55832	broad.mit.edu	37	12	67703936	67703936	+	Frame_Shift_Del	DEL	A	-	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:67703936delA	uc001stn.2	+	12	3637	c.3200delA	c.(3199-3201)gaafs	p.E1067fs	CAND1_uc001sto.2_Frame_Shift_Del_p.E577fs	NM_018448	NP_060918	Q86VP6	CAND1_HUMAN	Homo sapiens cullin-associated and neddylation-dissociated 1 (CAND1), mRNA.	1067					cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding	p.V1066L(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		TAACAGGTAGAAATGGGTCCA	0.358													---	165	---	---	13	---					
PTPRB	5787	broad.mit.edu	37	12	70938360	70938361	+	Frame_Shift_Ins	INS	-	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:70938360_70938361insA	uc001swb.4	-	19	4846_4847	c.4816_4817insT	c.(4816-4818)tctfs	p.S1606fs	PTPRB_uc010sto.2_Frame_Shift_Ins_p.S1516fs|PTPRB_uc010stp.2_Frame_Shift_Ins_p.S1516fs|PTPRB_uc001swc.4_Frame_Shift_Ins_p.S1824fs|PTPRB_uc001swa.4_Frame_Shift_Ins_p.S1736fs	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	1606					angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			GATGGGTAAAGAAAAAAATGTG	0.411													---	17	---	---	11	---					
NR2C1	7181	broad.mit.edu	37	12	95451579	95451580	+	Frame_Shift_Ins	INS	-	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:95451579_95451580insT	uc001tdm.4	-	5	875_876	c.619_620insA	c.(619-621)atcfs	p.I207fs	NR2C1_uc010suu.1_Frame_Shift_Ins_p.I207fs|NR2C1_uc001tdn.4_Frame_Shift_Ins_p.I207fs|NR2C1_uc001tdo.4_Frame_Shift_Ins_p.I207fs	NM_003297	NP_003288	P13056	NR2C1_HUMAN	Homo sapiens nuclear receptor subfamily 2, group C, member 1 (NR2C1), transcript variant 1, mRNA.	207					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	PML body	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13						TCGGATATAGATTTTTTCTGTT	0.366													---	87	---	---	49	---					
C12orf63	374467	broad.mit.edu	37	12	97159023	97159024	+	Frame_Shift_Ins	INS	-	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:97159023_97159024insA	uc021rcc.1	+	26	3661_3662	c.3583_3584insA	c.(3583-3585)caafs	p.Q1195fs				Q6ZTY8	CL063_HUMAN	RecName: Full=Putative uncharacterized protein C12orf63;	1195										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						ACATATTATGCAAAAAAACTGA	0.342													---	24	---	---	16	---					
NEDD1	121441	broad.mit.edu	37	12	97339521	97339522	+	Frame_Shift_Ins	INS	-	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:97339521_97339522insA	uc001tew.3	+	12	1872_1873	c.1726_1727insA	c.(1726-1728)gaafs	p.E576fs	NEDD1_uc001teu.4_Frame_Shift_Ins_p.E569fs|NEDD1_uc001tev.4_Frame_Shift_Ins_p.E569fs|NEDD1_uc010svc.2_Frame_Shift_Ins_p.E480fs|NEDD1_uc001tex.3_Frame_Shift_Ins_p.E480fs	NM_001135175	NP_001128649	Q8NHV4	NEDD1_HUMAN	Homo sapiens neural precursor cell expressed, developmentally down-regulated 1 (NEDD1), transcript variant 1, mRNA.	569					G2/M transition of mitotic cell cycle|cell division|mitosis	cytosol				breast(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)	22						TTCACTCTCAGAAAAAATAGCC	0.376													---	38	---	---	25	---					
CLIP1	6249	broad.mit.edu	37	12	122862486	122862487	+	Frame_Shift_Ins	INS	-	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:122862486_122862487insT	uc001ucg.2	-	2	261_262	c.106_107insA	c.(106-108)accfs	p.T36fs	CLIP1_uc001uch.1_Frame_Shift_Ins_p.T36fs|CLIP1_uc001uci.1_Frame_Shift_Ins_p.T36fs|CLIP1_uc010tae.2_Frame_Shift_Ins_p.T36fs	NM_001247997	NP_001234926	P30622	CLIP1_HUMAN	Homo sapiens CAP-GLY domain containing linker protein 1 (CLIP1), transcript variant 3, mRNA.	36					mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		ACTGGATATGGTTTTTTCTACT	0.386													---	161	---	---	13	---					
TPTE2	93492	broad.mit.edu	37	13	20041394	20041394	+	Frame_Shift_Del	DEL	A	-	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:20041394delA	uc001umd.3	-	7	694	c.483delT	c.(481-483)tttfs	p.F161fs	TPTE2_uc009zzk.3_Intron|TPTE2_uc009zzl.3_Intron|TPTE2_uc001ume.3_Intron|TPTE2_uc009zzm.3_Intron|TPTE2_uc010tcm.2_Non-coding_Transcript	NM_199254	NP_954863	Q6XPS3	TPTE2_HUMAN	Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 (TPTE2), transcript variant 3, mRNA.	161						endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		ACTTAATGTCAAAAAAAATGT	0.303													---	52	---	---	22	---					
EPSTI1	94240	broad.mit.edu	37	13	43538202	43538203	+	Splice_Site	INS	-	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:43538202_43538203insT	uc001uyw.1	-	4	481	c.405_splice	c.e4+1	p.K135_splice	EPSTI1_uc001uyx.1_Splice_Site_p.K135_splice	NM_001002264	NP_001002264	Q96J88	ESIP1_HUMAN	Homo sapiens epithelial stromal interaction 1 (breast) (EPSTI1), transcript variant 1, mRNA.	135										endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|skin(1)	17		Lung NSC(96;3.6e-06)|Breast(139;0.00869)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		GBM - Glioblastoma multiforme(144;0.000528)|BRCA - Breast invasive adenocarcinoma(63;0.0858)		GAATTCTGACCTTTTGCTTGTA	0.351													---	19	---	---	8	---					
CCDC122	160857	broad.mit.edu	37	13	44433879	44433880	+	Frame_Shift_Ins	INS	-	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:44433879_44433880insT	uc010tfn.1	-	3	682_683	c.483_484insA	c.(481-486)aaattafs	p.K161fs	CCDC122_uc010acf.3_Frame_Shift_Ins_p.K161fs	NM_144974	NP_659411	Q5T0U0	CC122_HUMAN	Homo sapiens coiled-coil domain containing 122 (CCDC122), mRNA.	161										endometrium(1)|large_intestine(2)|lung(5)|stomach(1)	9		Lung NSC(96;7.5e-06)|Breast(139;0.00765)|Hepatocellular(98;0.00826)|Prostate(109;0.0143)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000767)|BRCA - Breast invasive adenocarcinoma(63;0.128)		ATTGTCTTTAATTTTTTAACAA	0.317													---	74	---	---	37	---					
SPRYD7	57213	broad.mit.edu	37	13	50489224	50489225	+	Frame_Shift_Ins	INS	-	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:50489224_50489225insT	uc001vdl.2	-	4	819_820	c.565_566insA	c.(565-567)atafs	p.I189fs	SPRYD7_uc001vdm.2_Frame_Shift_Ins_p.I150fs|SPRYD7_uc010tgm.1_Non-coding_Transcript	NM_020456	NP_065189	Q5W111	SPRY7_HUMAN	Homo sapiens SPRY domain containing 7 (SPRYD7), transcript variant 1, mRNA.	189										haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)	6						TTCAAATAATATTTTTTCAAAA	0.297													---	37	---	---	10	---					
DZIP1	22873	broad.mit.edu	37	13	96241463	96241464	+	Splice_Site	INS	-	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:96241463_96241464insA	uc001vmk.3	-	19	2826	c.1974_splice	c.e19-1	p.K658_splice	DZIP1_uc001vmj.3_Splice_Site_p.K134_splice|DZIP1_uc001vml.3_Splice_Site_p.K639_splice	NM_198968	NP_945319	Q86YF9	DZIP1_HUMAN	Homo sapiens DAZ interacting protein 1 (DZIP1), transcript variant 2, mRNA.	658					germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			TTCTTAATTCTAAAAAAACAAC	0.277													---	25	---	---	16	---					
TUBGCP3	10426	broad.mit.edu	37	13	113153377	113153378	+	Frame_Shift_Ins	INS	-	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:113153377_113153378insT	uc001vse.1	-	19	2616_2617	c.2429_2430insA	c.(2428-2430)aagfs	p.K810fs	TUBGCP3_uc010tjq.1_Frame_Shift_Ins_p.K800fs|TUBGCP3_uc001vsf.3_Frame_Shift_Ins_p.K810fs	NM_006322	NP_006313	Q96CW5	GCP3_HUMAN	Homo sapiens tubulin, gamma complex associated protein 3 (TUBGCP3), mRNA.	810					G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization	centriole|cytosol|polar microtubule	gamma-tubulin binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)					CACGCTGTTTCTTTTTCTCTTC	0.356													---	38	---	---	27	---					
TINF2	26277	broad.mit.edu	37	14	24709323	24709324	+	Frame_Shift_Ins	INS	-	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:24709323_24709324insA	uc001woa.4	-	7	1509_1510	c.1167_1168insT	c.(1165-1170)atagggfs	p.I389fs	TINF2_uc010alm.3_3'UTR|TINF2_uc001wob.4_3'UTR|TINF2_uc010tof.2_Frame_Shift_Ins_p.I354fs|TINF2_uc001woc.4_3'UTR	NM_001099274	NP_001092744	Q9BSI4	TINF2_HUMAN	Homo sapiens TERF1 (TRF1)-interacting nuclear factor 2 (TINF2), transcript variant 1, mRNA.	389					negative regulation of epithelial cell proliferation|negative regulation of protein ADP-ribosylation|negative regulation of telomere maintenance via telomerase|positive regulation of telomere maintenance|protein localization to chromosome, telomeric region|telomere assembly|telomere maintenance via telomere lengthening	nuclear telomere cap complex|nucleoplasm|perinucleolar chromocenter	protein binding|telomeric DNA binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|prostate(1)|urinary_tract(1)	7				GBM - Glioblastoma multiforme(265;0.0185)		ACCAAGTCCCCTATGGTAATGA	0.500									Congenital Dyskeratosis;Ataxia Pancytopenia syndrome				---	331	---	---	33	---					
MIA2	117153	broad.mit.edu	37	14	39716859	39716860	+	Frame_Shift_Ins	INS	-	A	A	rs141053276		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:39716859_39716860insA	uc001wux.3	+	3	1275_1276	c.1081_1082insA	c.(1081-1083)gaafs	p.E361fs	MIA2_uc010amy.2_Frame_Shift_Ins_p.E292fs	NM_054024	NP_473365	Q96PC5	MIA2_HUMAN	Homo sapiens melanoma inhibitory activity 2 (MIA2), mRNA.	361						extracellular region				NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	31	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0216)		AATATTAACAGAAAAAAAAGAC	0.347													---	35	---	---	29	---					
KLHDC2	23588	broad.mit.edu	37	14	50238339	50238339	+	Frame_Shift_Del	DEL	T	-	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:50238339delT	uc001wwx.3	+	1	581	c.181delT	c.(181-183)tttfs	p.F61fs	NEMF_uc010anj.1_Intron	NM_014315	NP_055130	Q9Y2U9	KLDC2_HUMAN	Homo sapiens kelch domain containing 2 (KLHDC2), mRNA.	61						nucleus	protein binding			endometrium(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	all_epithelial(31;0.000959)|Breast(41;0.0117)					ATTATATGACTTTTATCTGCC	0.313													---	49	---	---	33	---					
NIN	51199	broad.mit.edu	37	14	51224050	51224050	+	Frame_Shift_Del	DEL	T	-	-	rs34636266		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:51224050delT	uc001wyi.3	-	17	3889	c.3698delA	c.(3697-3699)aagfs	p.K1233fs	NIN_uc001wyj.3_Intron|NIN_uc001wym.2_Frame_Shift_Del_p.K1233fs|NIN_uc001wyk.3_Intron|NIN_uc001wyo.3_Frame_Shift_Del_p.K1233fs	NM_020921	NP_065972	Q8N4C6	NIN_HUMAN	Homo sapiens ninein (GSK3B interacting protein) (NIN), transcript variant 2, mRNA.	1233					centrosome localization	centrosome|microtubule	GTP binding|calcium ion binding|protein binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					CTTCAGTTTCTTTTTTAGCAC	0.418			T	PDGFRB	MPD								---	129	---	---	68	---					
ARID4A	5926	broad.mit.edu	37	14	58814450	58814451	+	Frame_Shift_Ins	INS	-	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:58814450_58814451insA	uc001xdp.3	+	14	1512_1513	c.1258_1259insA	c.(1258-1260)gaafs	p.E420fs	ARID4A_uc001xdo.3_Frame_Shift_Ins_p.E420fs|ARID4A_uc001xdq.3_Frame_Shift_Ins_p.E420fs|ARID4A_uc010apg.1_Frame_Shift_Ins_p.E98fs	NM_002892	NP_002883	P29374	ARI4A_HUMAN	Homo sapiens AT rich interactive domain 4A (RBP1-like) (ARID4A), transcript variant 1, mRNA.	420					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						AGTAAAAGAGGAAAAAAAAGAC	0.356													---	20	---	---	46	---					
C14orf135	64430	broad.mit.edu	37	14	60581478	60581479	+	Frame_Shift_Ins	INS	-	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:60581478_60581479insT	uc001xer.4	+	1	570_571	c.48_49insT	c.(46-51)gtatttfs	p.V16fs	C14orf135_uc001xeq.2_Frame_Shift_Ins_p.V16fs	NM_022495	NP_071940	Q63HM2	CN135_HUMAN	Homo sapiens chromosome 14 open reading frame 135 (C14orf135), mRNA.	250						integral to membrane				endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)	18		Myeloproliferative disorder(585;0.163)		OV - Ovarian serous cystadenocarcinoma(108;0.127)		TCTTGTTTGTATTTTTACCCTT	0.406													---	87	---	---	44	---					
ZFP36L1	677	broad.mit.edu	37	14	69256767	69256768	+	Frame_Shift_Ins	INS	-	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:69256767_69256768insA	uc021rve.1	-	2	800_801	c.706_707insT	c.(706-708)tgcfs	p.C236fs	ZFP36L1_uc001xki.2_Frame_Shift_Ins_p.C167fs|ZFP36L1_uc001xkh.2_Frame_Shift_Ins_p.C167fs	NM_001244701	NP_001231630	Q07352	TISB_HUMAN	Homo sapiens zinc finger protein 36, C3H type-like 1 (ZFP36L1), transcript variant 3, mRNA.	167					regulation of mRNA stability	cytosol|nucleus	DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.C167fs*66(1)		breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		CCCGTAGGGGCAAAAGCCGATG	0.678											OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	52	---	---	29	---					
FLVCR2	55640	broad.mit.edu	37	14	76090972	76090972	+	Frame_Shift_Del	DEL	A	-	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:76090972delA	uc001xrs.2	+	2	1205	c.829delA	c.(829-831)aaafs	p.K277fs	FLVCR2_uc010tvd.1_Frame_Shift_Del_p.K72fs	NM_017791	NP_060261	Q9UPI3	FLVC2_HUMAN	Homo sapiens feline leukemia virus subgroup C cellular receptor family, member 2 (FLVCR2), transcript variant 1, mRNA.	277					transmembrane transport	integral to membrane|plasma membrane	heme binding|heme transporter activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15				BRCA - Breast invasive adenocarcinoma(234;0.029)		GGAGAAACCTAAATATCCCCC	0.488													---	82	---	---	9	---					
GALC	2581	broad.mit.edu	37	14	88406276	88406276	+	Frame_Shift_Del	DEL	T	-	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:88406276delT	uc001xvt.3	-	15	1991	c.1884delA	c.(1882-1884)aaafs	p.K628fs	GALC_uc010tvw.1_Non-coding_Transcript|GALC_uc010tvy.2_Frame_Shift_Del_p.K605fs|GALC_uc010tvx.2_Frame_Shift_Del_p.K602fs|GALC_uc010tvz.1_Frame_Shift_Del_p.K572fs	NM_000153	NP_000144	P54803	GALC_HUMAN	Homo sapiens galactosylceramidase (GALC), transcript variant 1, mRNA.	628					carbohydrate metabolic process|galactosylceramide catabolic process	lysosome	cation binding|galactosylceramidase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GTGTATACCATTTTTTTGCTG	0.308													---	179	---	---	10	---					
KCNK10	54207	broad.mit.edu	37	14	88792790	88792791	+	Frame_Shift_Ins	INS	-	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:88792790_88792791insA	uc001xwo.3	-	0	466_467	c.9_10insT	c.(7-12)tttctcfs	p.F3fs		NM_021161	NP_066984	P57789	KCNKA_HUMAN	Homo sapiens potassium channel, subfamily K, member 10 (KCNK10), transcript variant 1, mRNA.	3					signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						TCTGTGTAGAGAAAAAACATCC	0.500													---	20	---	---	13	---					
MYO5A	4644	broad.mit.edu	37	15	52671910	52671910	+	Frame_Shift_Del	DEL	A	-	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:52671910delA	uc002aby.2	-	17	2364	c.2120delT	c.(2119-2121)ttcfs	p.F707fs	MYO5A_uc002abx.3_Frame_Shift_Del_p.F707fs|MYO5A_uc010uge.1_Frame_Shift_Del_p.F576fs	NM_000259	NP_000250	Q9Y4I1	MYO5A_HUMAN	Homo sapiens myosin VA (heavy chain 12, myoxin) (MYO5A), transcript variant 1, mRNA.	707	Myosin head-like.				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		GTAGCGGCTGAAAAATTCTTG	0.388													---	107	---	---	49	---					
VPS13C	54832	broad.mit.edu	37	15	62316028	62316029	+	Frame_Shift_Ins	INS	-	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:62316028_62316029insT	uc002agz.3	-	6	555_556	c.464_465insA	c.(463-465)aagfs	p.K155fs	VPS13C_uc002aha.3_Intron|VPS13C_uc002ahb.2_Frame_Shift_Ins_p.K155fs|VPS13C_uc002ahc.2_Intron	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog C (S. cerevisiae) (VPS13C), transcript variant 2A, mRNA.	155	Lys-rich.				protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						GTTTTTTGTGCTTTTTACGTTT	0.332													---	61	---	---	31	---					
DENND4A	10260	broad.mit.edu	37	15	65959878	65959879	+	Frame_Shift_Ins	INS	-	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:65959878_65959879insA	uc002api.3	-	28	5531_5532	c.5146_5147insT	c.(5146-5148)tggfs	p.W1716fs	DENND4A_uc002aph.3_Frame_Shift_Ins_p.W1673fs	NM_001144823	NP_001138295	Q7Z401	MYCPP_HUMAN	Homo sapiens DENN/MADD domain containing 4A (DENND4A), transcript variant 1, mRNA.	1673					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						TACCAGGTTCCAAAAAACAATT	0.386													---	48	---	---	32	---					
RASGRF1	5923	broad.mit.edu	37	15	79294017	79294018	+	Frame_Shift_Ins	INS	-	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:79294017_79294018insT	uc002beq.3	-	16	2984_2985	c.2609_2610insA	c.(2608-2610)aacfs	p.N870fs	RASGRF1_uc002bep.3_Frame_Shift_Ins_p.N854fs|RASGRF1_uc010blm.1_Frame_Shift_Ins_p.N779fs|RASGRF1_uc002ber.4_Frame_Shift_Ins_p.N854fs|RASGRF1_uc010unh.1_Frame_Shift_Ins_p.N265fs|RASGRF1_uc002beo.3_Frame_Shift_Ins_p.N86fs	NM_002891	NP_002882	Q13972	RGRF1_HUMAN	Homo sapiens Ras protein-specific guanine nucleotide-releasing factor 1 (RASGRF1), transcript variant 1, mRNA.	872					activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						AAGAATTTTTGTTTTTGACTGA	0.411													---	137	---	---	8	---					
IL16	3603	broad.mit.edu	37	15	81565500	81565501	+	Frame_Shift_Ins	INS	-	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:81565500_81565501insT	uc021ssh.1	+	4	846_847	c.745_746insT	c.(745-747)attfs	p.I249fs	IL16_uc002bgc.2_Non-coding_Transcript|IL16_uc010blq.1_Frame_Shift_Ins_p.I249fs|IL16_uc002bge.4_Non-coding_Transcript|IL16_uc010unp.2_Frame_Shift_Ins_p.I291fs|IL16_uc021ssg.1_Frame_Shift_Ins_p.I249fs|IL16_uc002bgg.3_Frame_Shift_Ins_p.I249fs	NM_172217	NP_757366	Q14005	IL16_HUMAN	Homo sapiens interleukin 16 (IL16), transcript variant 2, mRNA.	249	Interaction with GRIN2A.|PDZ 1.				immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						CGTCAAAACCATTTTTGCAGGG	0.510													---	41	---	---	21	---					
USP7	7874	broad.mit.edu	37	16	9010900	9010901	+	Frame_Shift_Ins	INS	-	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:9010900_9010901insT	uc002czl.2	-	6	1032_1033	c.833_834insA	c.(832-834)aagfs	p.K278fs	USP7_uc010uyk.1_Frame_Shift_Ins_p.K179fs|USP7_uc010uyj.1_Frame_Shift_Ins_p.K179fs|USP7_uc002czk.2_Frame_Shift_Ins_p.K262fs|USP7_uc010uyl.1_Non-coding_Transcript	NM_003470	NP_003461	Q93009	UBP7_HUMAN	Homo sapiens ubiquitin specific peptidase 7 (herpes virus-associated) (USP7), mRNA.	278					interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	PML body|cytoplasm	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						ACTTTGTTAACTTTTTTGTTCC	0.361													---	89	---	---	33	---					
ZKSCAN2	342357	broad.mit.edu	37	16	25255310	25255311	+	Frame_Shift_Ins	INS	-	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:25255310_25255311insG	uc002dod.4	-	5	2183_2184	c.1776_1777insC	c.(1774-1779)cccagcfs	p.P592fs	ZKSCAN2_uc010vcl.2_Frame_Shift_Ins_p.P388fs	NM_001012981	NP_001012999	Q63HK3	ZKSC2_HUMAN	Homo sapiens zinc finger with KRAB and SCAN domains 2 (ZKSCAN2), mRNA.	592					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		TCTGGGGTGCTGGGGGAAGGAG	0.545													---	62	---	---	36	---					
MAPK3	5595	broad.mit.edu	37	16	30134477	30134478	+	Frame_Shift_Ins	INS	-	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:30134477_30134478insA	uc002dws.3	-	0	153_154	c.53_54insT	c.(52-54)gagfs	p.E18fs	BOLA2_uc010bzb.1_Intron|MAPK3_uc002dwr.3_5'Flank|MAPK3_uc002dwv.4_Frame_Shift_Ins_p.E18fs|MAPK3_uc002dwt.3_Frame_Shift_Ins_p.E18fs	NM_002746	NP_002737	P27361	MK03_HUMAN	Homo sapiens mitogen-activated protein kinase 3 (MAPK3), transcript variant 1, mRNA.	18					MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Ras protein signal transduction|Toll signaling pathway|activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|cellular response to mechanical stimulus|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|interleukin-1-mediated signaling pathway|interspecies interaction between organisms|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription initiation from RNA polymerase I promoter	cytosol|nucleoplasm	ATP binding|MAP kinase activity|phosphatase binding									Arsenic trioxide(DB01169)|Isoproterenol(DB01064)|Simvastatin(DB00641)|Sulindac(DB00605)	GGCCGACCCCCTCGGTTCTACG	0.772													---	7	---	---	4	---					
CIRH1A	84916	broad.mit.edu	37	16	69197042	69197043	+	Frame_Shift_Ins	INS	-	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:69197042_69197043insA	uc002ews.4	+	13	1704_1705	c.1608_1609insA	c.(1606-1611)cccaatfs	p.P536fs	CIRH1A_uc002ewr.2_Frame_Shift_Ins_p.P536fs|CIRH1A_uc002ewt.4_Frame_Shift_Ins_p.P453fs|CIRH1A_uc010cfi.3_Frame_Shift_Ins_p.P338fs	NM_032830	NP_116219	Q969X6	CIR1A_HUMAN	Homo sapiens cirrhosis, autosomal recessive 1A (cirhin) (CIRH1A), mRNA.	536						nucleolus	protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(108;0.125)		CTATTGCCCCCAATACCAACAA	0.480													---	177	---	---	28	---					
CTU2	348180	broad.mit.edu	37	16	88776649	88776649	+	Frame_Shift_Del	DEL	G	-	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:88776649delG	uc010chz.3	+	3	289	c.241delG	c.(241-243)gggfs	p.G81fs	CTU2_uc002flm.3_Frame_Shift_Del_p.G81fs|CTU2_uc002fln.3_Frame_Shift_Del_p.G81fs|CTU2_uc010cia.3_5'UTR	NM_001012759	NP_001012777	Q2VPK5	CTU2_HUMAN	Homo sapiens cytosolic thiouridylase subunit 2 homolog (S. pombe) (CTU2), transcript variant 1, mRNA.	81					tRNA thio-modification|tRNA wobble uridine modification	cytoplasm|protein complex|soluble fraction	protein binding			NS(1)|breast(1)|endometrium(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11						GGCGTGGTCTGGGGGGCCTTC	0.637													---	75	---	---	49	---					
BCL6B	255877	broad.mit.edu	37	17	6927857	6927858	+	Frame_Shift_Ins	INS	-	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:6927857_6927858insC	uc010clt.1	+	3	601_602	c.539_540insC	c.(538-540)ggcfs	p.G180fs	BCL6B_uc002geg.2_Frame_Shift_Ins_p.G180fs	NM_181844	NP_862827	Q8N143	BCL6B_HUMAN	Homo sapiens B-cell CLL/lymphoma 6, member B (BCL6B), mRNA.	180	Pro-rich.					nucleus	zinc ion binding	p.S183fs*6(1)		skin(1)	1						TGCAGTCAAGGCCCCCCCAGTC	0.619													---	177	---	---	7	---					
SPEM1	374768	broad.mit.edu	37	17	7324242	7324243	+	Frame_Shift_Ins	INS	-	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7324242_7324243insA	uc002ggv.3	+	2	273_274	c.248_249insA	c.(247-249)cctfs	p.P83fs	SPEM1_uc010vtw.1_Intron	NM_199339	NP_955371	Q8N4L4	SPEM1_HUMAN	Homo sapiens spermatid maturation 1 (SPEM1), mRNA.	83					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|integral to membrane				endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	12		Prostate(122;0.173)				ACCCAGCCCCCTAAGAAGCAGA	0.594													---	122	---	---	16	---					
ULK2	9706	broad.mit.edu	37	17	19729453	19729453	+	Splice_Site	DEL	T	-	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:19729453delT	uc002gwm.4	-	11	1344	c.835_splice	c.e11+1	p.S279_splice	ULK2_uc002gwn.3_Splice_Site_p.S279_splice	NM_001142610	NP_055498	Q8IYT8	ULK2_HUMAN	Homo sapiens unc-51-like kinase 2 (C. elegans) (ULK2), transcript variant 2, mRNA.	279					signal transduction		ATP binding|protein binding|protein serine/threonine kinase activity	p.K278fs*130(1)		large_intestine(1)|skin(4)|stomach(1)	6	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)					GATACTCACATTTTTTTACTG	0.294													---	91	---	---	12	---					
PROCA1	147011	broad.mit.edu	37	17	27030736	27030737	+	Frame_Shift_Ins	INS	-	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:27030736_27030737insT	uc002hcb.3	-	4	1059_1060	c.856_857insA	c.(856-858)cggfs	p.R286fs	PROCA1_uc010crv.2_Frame_Shift_Ins_p.R212fs|PROCA1_uc002hca.1_Frame_Shift_Ins_p.R284fs	NM_152465	NP_689678	Q8NCQ7	PRCA1_HUMAN	Homo sapiens protein interacting with cyclin A1 (PROCA1), mRNA.	312					lipid catabolic process		calcium ion binding|phospholipase A2 activity	p.R284W(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(4)|ovary(1)|urinary_tract(1)	16	Lung NSC(42;0.00431)					TCCCTGCCCCCGGCCATTGTAA	0.569													---	107	---	---	17	---					
SSH2	85464	broad.mit.edu	37	17	27963207	27963208	+	Frame_Shift_Ins	INS	-	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:27963207_27963208insA	uc002heo.1	-	13	1959_1960	c.1959_1960insT	c.(1957-1962)tttagtfs	p.F653fs	SSH2_uc010wbh.1_Frame_Shift_Ins_p.F680fs	NM_033389	NP_203747	Q76I76	SSH2_HUMAN	Homo sapiens slingshot homolog 2 (Drosophila) (SSH2), mRNA.	653					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCTAGGGCACTAAAAAAGTCAA	0.505													---	83	---	---	30	---					
NF1	4763	broad.mit.edu	37	17	29553477	29553478	+	Frame_Shift_Ins	INS	-	C	C	rs145092683		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:29553477_29553478insC	uc002hgg.3	+	17	2409_2410	c.2026_2027insC	c.(2026-2028)accfs	p.T676fs	NF1_uc002hgh.3_Frame_Shift_Ins_p.T676fs|NF1_uc010csn.2_Frame_Shift_Ins_p.T536fs|NF1_uc002hgi.1_5'UTR	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	676					MAPKKK cascade|Ras protein signal transduction|actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	Ras GTPase activator activity|protein binding	p.0?(8)|p.?(4)|p.P678fs*10(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		ATGCAGCGGAACCCCCCCGATT	0.460			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			---	27	---	---	7	---					
OMG	4974	broad.mit.edu	37	17	29622442	29622443	+	Frame_Shift_Ins	INS	-	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:29622442_29622443insT	uc002hgj.3	-	1	1120_1121	c.907_908insA	c.(907-909)atafs	p.I303fs	NF1_uc002hgg.3_Intron|NF1_uc002hgh.3_Intron|NF1_uc002hgi.1_Intron|NF1_uc010cso.3_Intron|OMG_uc021tuj.1_Frame_Shift_Ins_p.I303fs	NM_002544	NP_002535	P23515	OMGP_HUMAN	Homo sapiens oligodendrocyte myelin glycoprotein (OMG), mRNA.	303					cell adhesion|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	anchored to membrane|plasma membrane		p.0?(8)|p.?(3)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)|stomach(1)	13		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;1.81e-13)|Epithelial(4;4.04e-12)|OV - Ovarian serous cystadenocarcinoma(4;9.49e-12)|GBM - Glioblastoma multiforme(4;0.121)		TTGTTTGGGTATTTTGGTCACT	0.431													---	131	---	---	15	---					
AP2B1	163	broad.mit.edu	37	17	33935342	33935342	+	Frame_Shift_Del	DEL	A	-	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:33935342delA	uc002hjr.3	+	4	650	c.461delA	c.(460-462)caafs	p.Q154fs	AP2B1_uc002hjq.3_Frame_Shift_Del_p.Q154fs|AP2B1_uc010wci.2_Frame_Shift_Del_p.Q116fs|AP2B1_uc002hjs.3_Frame_Shift_Del_p.Q97fs|AP2B1_uc002hjt.3_Frame_Shift_Del_p.Q154fs|AP2B1_uc010ctv.3_Frame_Shift_Del_p.Q154fs	NM_001282	NP_001273	P63010	AP2B1_HUMAN	Homo sapiens adaptor-related protein complex 2, beta 1 subunit (AP2B1), transcript variant 2, mRNA.	154					axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|coated pit|cytosol|endocytic vesicle membrane|plasma membrane	clathrin binding|protein transporter activity	p.Q154*(1)		NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		ATCAATGCCCAAATGGTGGAA	0.448													---	124	---	---	7	---					
TNRC6C	57690	broad.mit.edu	37	17	76046980	76046980	+	Frame_Shift_Del	DEL	A	-	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:76046980delA	uc002jud.2	+	3	2437	c.1837delA	c.(1837-1839)aaafs	p.K613fs	TNRC6C_uc002juf.2_Frame_Shift_Del_p.K613fs|TNRC6C_uc002jue.2_Frame_Shift_Del_p.K613fs	NM_018996	NP_061869	Q9HCJ0	TNR6C_HUMAN	Homo sapiens trinucleotide repeat containing 6C (TNRC6C), transcript variant 2, mRNA.	613	Sufficient for interaction with argonaute family proteins.				gene silencing by RNA|regulation of translation		RNA binding|nucleotide binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			GGGGGATGGGAAAAAAAATGG	0.522													---	84	---	---	8	---					
ROCK1P1	727758	broad.mit.edu	37	18	120868	120869	+	RNA	INS	-	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:120868_120869insT	uc002kke.3	+	4		c.1106_1107insT								Homo sapiens Rho-associated, coiled-coil containing protein kinase 1 pseudogene 1 (ROCK1P1), non-coding RNA.																		CACACTGAGGGTTTTTTTTATC	0.386													---	5	---	---	3	---					
ARHGAP28	79822	broad.mit.edu	37	18	6882228	6882229	+	Frame_Shift_Ins	INS	-	T	T	rs80166861	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:6882228_6882229insT	uc002knc.3	+	10	4438_4439	c.1227_1228insT	c.(1225-1230)gcgtttfs	p.A409fs	ARHGAP28_uc002kne.3_Frame_Shift_Ins_p.A302fs|ARHGAP28_uc010wzi.2_Frame_Shift_Ins_p.A284fs|ARHGAP28_uc002knf.3_Frame_Shift_Ins_p.A293fs	NM_001010000	NP_001010000	B4DXL2	B4DXL2_HUMAN	Homo sapiens Rho GTPase activating protein 28 (ARHGAP28), mRNA.	284					signal transduction	intracellular		p.R408S(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37		Colorectal(10;0.168)				TGTTGAAAGCGTTTTTCAGAGA	0.391													---	42	---	---	32	---					
MPPE1	65258	broad.mit.edu	37	18	11886499	11886499	+	Splice_Site	DEL	T	-	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:11886499delT	uc002kqf.3	-	9	1663	c.867_splice	c.e9+1	p.K289_splice	MPPE1_uc002kqg.3_Splice_Site|MPPE1_uc002kqh.3_Splice_Site|MPPE1_uc002kqi.3_Splice_Site|MPPE1_uc002kqn.3_Intron|MPPE1_uc002kqm.3_Intron|MPPE1_uc010dla.2_Frame_Shift_Del_p.K290fs	NM_023075	NP_075563	Q53F39	MPPE1_HUMAN	Homo sapiens metallophosphoesterase 1 (MPPE1), transcript variant 1, mRNA.	289					ER to Golgi vesicle-mediated transport|GPI anchor biosynthetic process	ER-Golgi intermediate compartment membrane|cis-Golgi network|endoplasmic reticulum exit site|integral to membrane	GPI anchor binding|manganese ion binding|phosphoric diester hydrolase activity			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	5						CTGGCAAACCTTTTGTGATGC	0.502													---	96	---	---	7	---					
WBP11P1	441818	broad.mit.edu	37	18	30091781	30091782	+	RNA	INS	-	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:30091781_30091782insT	uc010dmc.3	+	0		c.156_157insT								Homo sapiens WW domain binding protein 11 pseudogene 1 (WBP11P1), non-coding RNA.																		ttttctttttctttttttttAA	0.416													---	32	---	---	15	---					
ZNF532	55205	broad.mit.edu	37	18	56648824	56648824	+	Frame_Shift_Del	DEL	A	-	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:56648824delA	uc010xeg.2	+	8	3583	c.3386delA	c.(3385-3387)gaafs	p.E1129fs	ZNF532_uc002lhp.3_Frame_Shift_Del_p.E1127fs|ZNF532_uc002lho.3_Frame_Shift_Del_p.E1129fs|ZNF532_uc002lhr.3_Frame_Shift_Del_p.E1127fs|ZNF532_uc002lhs.3_Frame_Shift_Del_p.E1127fs|ZNF532_uc010xeh.2_Frame_Shift_Del_p.E217fs	NM_018181	NP_060651	Q9HCE3	ZN532_HUMAN	Homo sapiens zinc finger protein 532 (ZNF532), mRNA.	1129					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						AATGAGGAGGAAACAGAAATA	0.408													---	53	---	---	7	---					
MUM1	84939	broad.mit.edu	37	19	1364551	1364552	+	Frame_Shift_Ins	INS	-	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:1364551_1364552insA	uc002lrz.2	+	6	1370_1371	c.1260_1261insA	c.(1258-1263)cataaafs	p.H420fs	MUM1_uc010dsi.2_Frame_Shift_Ins_p.H351fs|MUM1_uc002lsb.2_Frame_Shift_Ins_p.H351fs|MUM1_uc010xgm.1_Frame_Shift_Ins_p.H419fs	NM_032853	NP_116242	Q2TAK8	MUM1_HUMAN	Homo sapiens melanoma associated antigen (mutated) 1 (MUM1), transcript variant 1, mRNA.	419	PWWP.				DNA repair|chromatin organization	nucleus	nucleosome binding|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCATAAACATAAAAAATACCC	0.337											OREG0025116	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	51	---	---	16	---					
RANBP3	8498	broad.mit.edu	37	19	5923913	5923914	+	Frame_Shift_Ins	INS	-	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:5923913_5923914insT	uc002mdw.3	-	11	1235_1236	c.1008_1009insA	c.(1006-1011)aaattafs	p.K336fs	RANBP3_uc002mdv.3_Frame_Shift_Ins_p.K55fs|RANBP3_uc002mdx.3_Frame_Shift_Ins_p.K331fs|RANBP3_uc002mdy.3_Frame_Shift_Ins_p.K268fs|RANBP3_uc002mdz.3_Frame_Shift_Ins_p.K263fs|RANBP3_uc010duq.3_Frame_Shift_Ins_p.K241fs|RANBP3_uc010xix.2_Frame_Shift_Ins_p.K208fs	NM_007322	NP_015561	Q9H6Z4	RANB3_HUMAN	Homo sapiens RAN binding protein 3 (RANBP3), transcript variant RANBP3-d, mRNA.	336					intracellular transport|protein transport	cytoplasm|nucleus	Ran GTPase binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	18						ACCTCGTTTAATTTTGGGGGGC	0.559													---	24	---	---	9	---					
ZNF442	79973	broad.mit.edu	37	19	12461740	12461741	+	Frame_Shift_Ins	INS	-	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:12461740_12461741insA	uc002mtr.1	-	5	1269_1270	c.658_659insT	c.(658-660)tggfs	p.W220fs	ZNF442_uc010xmk.1_Frame_Shift_Ins_p.W151fs	NM_030824	NP_110451	Q9H7R0	ZN442_HUMAN	Homo sapiens zinc finger protein 442 (ZNF442), mRNA.	220					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	31						TAAACTAGGCCAAAAAAAGGCT	0.401													---	100	---	---	43	---					
ANKLE1	126549	broad.mit.edu	37	19	17394492	17394493	+	Frame_Shift_Ins	INS	-	A	A	rs139428363		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:17394492_17394493insA	uc010xpn.1	+	4	1195_1196	c.1081_1082insA	c.(1081-1083)ccafs	p.P361fs	ANKLE1_uc010xpm.1_Non-coding_Transcript|ANKLE1_uc002nga.2_Frame_Shift_Ins_p.P307fs|ANKLE1_uc010eao.1_Frame_Shift_Ins_p.P329fs|ANKLE1_uc002nfy.2_Frame_Shift_Ins_p.P296fs|ANKLE1_uc002nfz.2_Frame_Shift_Ins_p.P13fs			Q8NAG6	ANKL1_HUMAN	Homo sapiens ankyrin repeat and LEM domain containing 1 (ANKLE1), mRNA.	307	LEM.					nuclear envelope				large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	7						TCATAGCCCCCCACGGACACCA	0.609													---	69	---	---	8	---					
CEBPG	1054	broad.mit.edu	37	19	33870462	33870463	+	Frame_Shift_Ins	INS	-	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:33870462_33870463insA	uc002nup.3	+	1	640_641	c.317_318insA	c.(316-318)gcafs	p.A106fs	CEBPG_uc021usd.1_Frame_Shift_Ins_p.A106fs|CEBPG_uc021use.1_Frame_Shift_Ins_p.A106fs	NM_001806	NP_001797	P53567	CEBPG_HUMAN	Homo sapiens CCAAT/enhancer binding protein (C/EBP), gamma (CEBPG), transcript variant 1, mRNA.	106	Leucine-zipper.				B cell differentiation|enucleate erythrocyte differentiation|liver development|natural killer cell mediated cytotoxicity|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of DNA binding|positive regulation of DNA repair|positive regulation of interferon-gamma biosynthetic process|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	nucleus	protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)	7	Esophageal squamous(110;0.137)					CGGTTGGAAGCAAAAATCAAAT	0.416													---	15	---	---	9	---					
ZNF30	90075	broad.mit.edu	37	19	35435001	35435002	+	Frame_Shift_Ins	INS	-	G	G	rs78688282	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:35435001_35435002insG	uc010edq.1	+	4	1512_1513	c.1134_1135insG	c.(1132-1137)tgcgggfs	p.C378fs	ZNF30_uc002nxf.2_Frame_Shift_Ins_p.C296fs|ZNF30_uc010edp.1_Frame_Shift_Ins_p.C377fs|ZNF30_uc010edr.1_Frame_Shift_Ins_p.C378fs	NM_001099437	NP_001092908	P17039	ZNF30_HUMAN	Homo sapiens zinc finger protein 30 (ZNF30), transcript variant 2, mRNA.	377					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)	16	all_lung(56;8.38e-08)|Lung NSC(56;1.31e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)	GBM - Glioblastoma multiforme(1328;0.0265)		GCAAGGAATGCGGGAGAACCTT	0.460													---	30	---	---	11	---					
ZNF585A	199704	broad.mit.edu	37	19	37643466	37643466	+	Frame_Shift_Del	DEL	T	-	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:37643466delT	uc002ofo.1	-	4	1566	c.1335delA	c.(1333-1335)aaafs	p.K445fs	ZNF585A_uc002ofm.1_Frame_Shift_Del_p.K390fs|ZNF585A_uc002ofn.1_Frame_Shift_Del_p.K390fs	NM_199126	NP_954577	Q6P3V2	Z585A_HUMAN	Homo sapiens zinc finger protein 585A (ZNF585A), transcript variant 2, mRNA.	445					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AGGTAAACAATTTCCCACAGT	0.423													---	153	---	---	13	---					
ZNF585B	92285	broad.mit.edu	37	19	37678054	37678055	+	Frame_Shift_Ins	INS	-	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:37678054_37678055insT	uc002ofq.3	-	4	636_637	c.384_385insA	c.(382-387)aaatccfs	p.K128fs	ZNF585B_uc002ofr.1_5'UTR	NM_152279	NP_689492	Q52M93	Z585B_HUMAN	Homo sapiens zinc finger protein 585B (ZNF585B), mRNA.	128					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CACTCATAGGATTTTTCCCCAG	0.371													---	54	---	---	36	---					
RYR1	6261	broad.mit.edu	37	19	38951154	38951155	+	Frame_Shift_Ins	INS	-	A	A	rs140686309	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:38951154_38951155insA	uc002oit.3	+	19	2630_2631	c.2500_2501insA	c.(2500-2502)cggfs	p.R834fs	RYR1_uc002oiu.3_Frame_Shift_Ins_p.R834fs	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	834					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GGAGGGGCCCCGGGGGCCTCAC	0.639													---	124	---	---	18	---					
ARHGAP35	2909	broad.mit.edu	37	19	47422504	47422505	+	Frame_Shift_Ins	INS	-	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:47422504_47422505insA	uc010ekv.3	+	0	572_573	c.572_573insA	c.(571-573)acafs	p.T191fs		NM_004491	NP_004482	Q9NRY4	RHG35_HUMAN	Homo sapiens Rho GTPase activating protein 35 (ARHGAP35), mRNA.	191					axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity										CTTGCAAAAACAAAAAAGCCCA	0.426													---	53	---	---	29	---					
ZNF749	388567	broad.mit.edu	37	19	57955361	57955361	+	Frame_Shift_Del	DEL	G	-	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:57955361delG	uc002qoq.2	+	2	1099	c.845delG	c.(844-846)aggfs	p.R282fs		NM_001023561	NP_001018855	O43361	ZN749_HUMAN	Homo sapiens zinc finger protein 749 (ZNF749), mRNA.	282					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)		CTTTCAAAAAGGTCTGACCCC	0.443													---	53	---	---	29	---					
ESF1	51575	broad.mit.edu	37	20	13763274	13763275	+	Frame_Shift_Ins	INS	-	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:13763274_13763275insT	uc002woj.3	-	1	620_621	c.512_513insA	c.(511-513)aacfs	p.N171fs	ESF1_uc002wok.1_Frame_Shift_Ins_p.N171fs|NDUFAF5_uc002woo.3_5'Flank|NDUFAF5_uc002wom.3_5'Flank|NDUFAF5_uc002won.3_5'Flank	NM_016649	NP_057733	Q9H501	ESF1_HUMAN	Homo sapiens ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae) (ESF1), mRNA.	171					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|nucleoplasm		p.N171fs*18(2)		endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						GTTGAACAATGTTTTTTTTCTC	0.317													---	47	---	---	7	---					
TTPAL	79183	broad.mit.edu	37	20	43113129	43113129	+	Frame_Shift_Del	DEL	T	-	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:43113129delT	uc002xmc.1	+	3	722	c.598delT	c.(598-600)tttfs	p.F200fs	TTPAL_uc002xmd.1_Frame_Shift_Del_p.F200fs|TTPAL_uc010ggr.1_Intron	NM_024331	NP_077307	Q9BTX7	TTPAL_HUMAN	Homo sapiens tocopherol (alpha) transfer protein-like (TTPAL), transcript variant 1, mRNA.	200	CRAL-TRIO.					intracellular	transporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|skin(5)	18						AGCATCTCACTTTGGCCCTTT	0.458													---	145	---	---	13	---					
SLC12A5	57468	broad.mit.edu	37	20	44673721	44673722	+	Frame_Shift_Ins	INS	-	A	A	rs41282782	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:44673721_44673722insA	uc010zxl.1	+	11	1656_1657	c.1580_1581insA	c.(1579-1581)acgfs	p.T527fs	SLC12A5_uc010zxm.1_Intron|SLC12A5_uc002xrb.2_Frame_Shift_Ins_p.T504fs	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporter), member 5 (SLC12A5), transcript variant 1, mRNA.	527					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	CAGAGCCTCACGGGGGCCCCAC	0.619													---	135	---	---	15	---					
DDX27	55661	broad.mit.edu	37	20	47858511	47858512	+	Frame_Shift_Ins	INS	-	G	G			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:47858511_47858512insG	uc002xuh.3	+	16	2133_2134	c.2072_2073insG	c.(2071-2073)aagfs	p.K691fs		NM_017895	NP_060365	Q96GQ7	DDX27_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 27 (DDX27), mRNA.	691						nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	p.K691fs*4(3)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GCCAAAAAAAAGGGGGAGATGA	0.510													---	67	---	---	36	---					
ADNP	23394	broad.mit.edu	37	20	49508204	49508204	+	Frame_Shift_Del	DEL	T	-	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:49508204delT	uc002xvt.1	-	4	3392	c.3047delA	c.(3046-3048)aagfs	p.K1016fs	ADNP_uc002xvu.1_Frame_Shift_Del_p.K1016fs	NM_015339	NP_852107	Q9H2P0	ADNP_HUMAN	Homo sapiens activity-dependent neuroprotector homeobox (ADNP), transcript variant 1, mRNA.	1016						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						CATGGTAGCCTTTTTTTTGGC	0.458													---	134	---	---	12	---					
LIPI	149998	broad.mit.edu	37	21	15561361	15561362	+	Frame_Shift_Ins	INS	-	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:15561361_15561362insT	uc002yjm.3	-	1	498_499	c.488_489insA	c.(487-489)aatfs	p.N163fs	LIPI_uc021whg.1_Non-coding_Transcript|LIPI_uc010gkw.2_Frame_Shift_Ins_p.N142fs|LIPI_uc021whh.1_Frame_Shift_Ins_p.N142fs|LIPI_uc021whi.1_Intron|LIPI_uc021whj.1_Frame_Shift_Ins_p.N142fs|LIPI_uc021whe.1_Frame_Shift_Ins_p.N142fs|LIPI_uc021whf.1_Frame_Shift_Ins_p.N142fs	NM_198996	NP_945347	Q6XZB0	LIPI_HUMAN	Homo sapiens lipase, member I (LIPI), mRNA.	142					lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity			endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		TTACCAAAAGATTTTTAATGTG	0.332													---	46	---	---	20	---					
SLC5A1	6523	broad.mit.edu	37	22	32482206	32482207	+	Splice_Site	INS	-	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:32482206_32482207insA	uc003amc.3	+	10	1272	c.1022_splice	c.e10-1	p.E341_splice	SLC5A1_uc011alz.2_Splice_Site_p.E214_splice	NM_000343	NP_000334	P13866	SC5A1_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 1 (SLC5A1), transcript variant 1, mRNA.	341					carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37						TCTCTTCCCAGAAAAAATTGCC	0.446													---	127	---	---	75	---					
GPR143	4935	broad.mit.edu	37	X	9709462	9709463	+	Frame_Shift_Ins	INS	-	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:9709462_9709463insA	uc004cst.2	-	6	948_949	c.800_801insT	c.(799-801)ttafs	p.L267fs		NM_000273	NP_000264	P51810	GP143_HUMAN	Homo sapiens G protein-coupled receptor 143 (GPR143), mRNA.	267					calcium-mediated signaling using intracellular calcium source|eye pigment biosynthetic process|melanosome organization|melanosome transport|phosphatidylinositol-mediated signaling|regulation of calcium-mediated signaling|visual perception	Golgi apparatus|apical plasma membrane|integral to membrane|lysosomal membrane|melanosome membrane|membrane fraction	L-DOPA receptor activity|dopamine binding|protein binding|tyrosine binding			endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15		Hepatocellular(5;0.000888)				CAAGATAGAATAAAAGGCTTTC	0.371													---	23	---	---	10	---					
FAM48B2	170067	broad.mit.edu	37	X	24329516	24329517	+	Frame_Shift_Ins	INS	-	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:24329516_24329517insA	uc011mjw.2	-	0	1916_1917	c.1916_1917insT	c.(1915-1917)ttcfs	p.F639fs		NM_001136233	NP_001129705	P0C7V6	F48B2_HUMAN	Homo sapiens family with sequence similarity 48, member B2 (FAM48B2), mRNA.	639										breast(1)|endometrium(4)|large_intestine(1)|liver(1)|lung(12)|ovary(2)|prostate(1)|skin(1)	23						GAGTATTTAGGAAAAACTGAAG	0.604													---	55	---	---	16	---					
SCARNA23	677773	broad.mit.edu	37	X	24762686	24762687	+	Splice_Site	INS	-	TA	TA			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:24762686_24762687insTA	uc004dbo.1	+	1		c.130_splice	c.e1+1		POLA1_uc004dbl.3_Intron					Homo sapiens small Cajal body-specific RNA 23 (SCARNA23), guide RNA.																		CTACTGACATTTATATATATGT	0.332													---	143	---	---	16	---					
TBC1D25	4943	broad.mit.edu	37	X	48418637	48418638	+	Frame_Shift_Ins	INS	-	C	C			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:48418637_48418638insC	uc011mmb.1	+	5	1439_1440	c.1353_1354insC	c.(1351-1356)ggacccfs	p.G451fs	TBC1D25_uc004dka.1_Frame_Shift_Ins_p.G447fs|TBC1D25_uc011mly.1_Frame_Shift_Ins_p.G389fs|TBC1D25_uc004dkb.1_Frame_Shift_Ins_p.G193fs|TBC1D25_uc011mlz.1_Frame_Shift_Ins_p.G193fs|TBC1D25_uc011mma.1_Frame_Shift_Ins_p.G193fs|TBC1D25_uc004dkc.1_Frame_Shift_Ins_p.G193fs|TBC1D25_uc011mmd.1_Frame_Shift_Ins_p.G193fs|TBC1D25_uc011mmc.1_Frame_Shift_Ins_p.G193fs	NM_002536	NP_002527	Q3MII6	TBC25_HUMAN	Homo sapiens TBC1 domain family, member 25 (TBC1D25), mRNA.	447						intracellular	Rab GTPase activator activity			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						AGCTGGTTGGACCCCCCAGCCA	0.614													---	20	---	---	10	---					
DLG3	1741	broad.mit.edu	37	X	69712375	69712376	+	Frame_Shift_Ins	INS	-	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:69712375_69712376insA	uc004dyi.2	+	11	2049_2050	c.1702_1703insA	c.(1702-1704)gaafs	p.E568fs	DLG3_uc004dyj.2_Frame_Shift_Ins_p.E231fs|DLG3_uc011mpn.2_Frame_Shift_Ins_p.E85fs	NM_021120	NP_066943	Q92796	DLG3_HUMAN	Homo sapiens discs, large homolog 3 (Drosophila) (DLG3), transcript variant 1, mRNA.	568	SH3.				axon guidance|negative regulation of cell proliferation|synaptic transmission	plasma membrane	guanylate kinase activity			endometrium(4)|kidney(1)|large_intestine(10)|lung(5)|pancreas(1)|urinary_tract(1)	22	Renal(35;0.156)					AAACAGGGTGGAAAAGAAAGAA	0.480													---	13	---	---	10	---					
TSIX	9383	broad.mit.edu	37	X	73044276	73044277	+	RNA	INS	-	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:73044276_73044277insT	uc004ebn.2	+	0		c.32237_32238insT			XIST_uc004ebm.1_Non-coding_Transcript					Homo sapiens TSIX transcript, XIST antisense RNA (non-protein coding) (TSIX), antisense RNA.																		gtattgccttatttTTGGCTGT	0.322													---	11	---	---	8	---					
IRS4	8471	broad.mit.edu	37	X	107976513	107976513	+	Frame_Shift_Del	DEL	A	-	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:107976513delA	uc004eoc.2	-	0	3095	c.3062delT	c.(3061-3063)ttcfs	p.F1021fs		NM_003604	NP_003595	O14654	IRS4_HUMAN	Homo sapiens insulin receptor substrate 4 (IRS4), mRNA.	1021						plasma membrane	SH3/SH2 adaptor activity|insulin receptor binding|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						TGCTGAGTTGAAAATTACTTC	0.488													---	102	---	---	9	---					
SLC6A14	11254	broad.mit.edu	37	X	115573968	115573968	+	Frame_Shift_Del	DEL	A	-	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:115573968delA	uc004eqi.3	+	3	591	c.460delA	c.(460-462)aaafs	p.K154fs	SLC6A14_uc011mtm.2_Non-coding_Transcript	NM_007231	NP_009162	Q9UN76	S6A14_HUMAN	Homo sapiens solute carrier family 6 (amino acid transporter), member 14 (SLC6A14), mRNA.	154					cellular amino acid metabolic process|response to toxin	integral to membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23					L-Proline(DB00172)	ACTACCATGGAAAAATTGTTC	0.308													---	107	---	---	63	---					
AKAP14	158798	broad.mit.edu	37	X	119048673	119048674	+	Frame_Shift_Ins	INS	-	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:119048673_119048674insA	uc004ese.3	+	4	411_412	c.273_274insA	c.(271-276)tctaaafs	p.S91fs	AKAP14_uc004esf.3_Intron	NM_178813	NP_848928	Q86UN6	AKA28_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 14 (AKAP14), transcript variant 1, mRNA.	91						cytoplasm				endometrium(4)|large_intestine(1)|lung(8)	13						AGTGTGTTTCTAAAAAATGCTG	0.401													---	59	---	---	41	---					
THOC2	57187	broad.mit.edu	37	X	122755386	122755387	+	Frame_Shift_Ins	INS	-	T	T			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:122755386_122755387insT	uc004etu.3	-	30	3869_3870	c.3837_3838insA	c.(3835-3840)aaagagfs	p.K1279fs	THOC2_uc010nqt.1_Non-coding_Transcript|THOC2_uc004etw.1_Frame_Shift_Ins_p.K100fs	NM_001081550	NP_001075019	Q8NI27	THOC2_HUMAN	Homo sapiens THO complex 2 (THOC2), mRNA.	1279	Lys-rich.				RNA splicing|intronless viral mRNA export from host nucleus|mRNA processing	THO complex part of transcription export complex	RNA binding|protein binding			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						tcttttttctctttttctttct	0.322													---	52	---	---	17	---					
UTP14A	10813	broad.mit.edu	37	X	129053459	129053459	+	Frame_Shift_Del	DEL	G	-	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:129053459delG	uc004euz.3	+	7	836	c.746delG	c.(745-747)agtfs	p.S249fs	UTP14A_uc011mup.2_Frame_Shift_Del_p.S197fs|UTP14A_uc011muq.2_Frame_Shift_Del_p.S195fs|UTP14A_uc004eva.1_5'Flank	NM_006649	NP_006640	Q9BVJ6	UT14A_HUMAN	Homo sapiens UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast) (UTP14A), transcript variant 1, mRNA.	249					rRNA processing	nucleolus|small-subunit processome	protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1)	32						AAAATCAAAAGTAAAAAGTAA	0.478													---	74	---	---	9	---					
ARHGAP36	158763	broad.mit.edu	37	X	130219946	130219947	+	Frame_Shift_Ins	INS	-	A	A			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:130219946_130219947insA	uc004evz.3	+	8	1509_1510	c.1164_1165insA	c.(1162-1167)ctgaaafs	p.L388fs	ARHGAP36_uc004ewa.3_Frame_Shift_Ins_p.L376fs|ARHGAP36_uc004ewb.3_Frame_Shift_Ins_p.L357fs|ARHGAP36_uc004ewc.3_Frame_Shift_Ins_p.L252fs	NM_144967	NP_659404	Q6ZRI8	RHG36_HUMAN	Homo sapiens Rho GTPase activating protein 36 (ARHGAP36), mRNA.	388	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						CTGCTCTCCTGAAAAAAGGAAA	0.465													---	189	---	---	123	---					
GPR112	139378	broad.mit.edu	37	X	135428148	135428148	+	Frame_Shift_Del	DEL	A	-	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:135428148delA	uc004ezu.1	+	5	2574	c.2283delA	c.(2281-2283)ctafs	p.L761fs	GPR112_uc010nsb.1_Frame_Shift_Del_p.L556fs|GPR112_uc010nsc.1_Frame_Shift_Del_p.L528fs	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	761					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CTTTACTACTAAAAACAATAC	0.358													---	88	---	---	9	---					
ZIC3	7547	broad.mit.edu	37	X	136649846	136649846	+	Frame_Shift_Del	DEL	C	-	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:136649846delC	uc004fak.3	+	0	1501	c.996delC	c.(994-996)ttcfs	p.F332fs		NM_003413	NP_003404	O60481	ZIC3_HUMAN	Homo sapiens Zic family member 3 (ZIC3), mRNA.	332	Nuclear localization signal.				cell differentiation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|soft_tissue(2)|urinary_tract(1)	37	Acute lymphoblastic leukemia(192;0.000127)					CATGCCCCTTCCCGGGCTGCG	0.597													---	119	---	---	59	---					
FMR1	2332	broad.mit.edu	37	X	147014219	147014219	+	Frame_Shift_Del	DEL	A	-	-			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:147014219delA	uc010nst.3	+	8	1046	c.817delA	c.(817-819)aaafs	p.K273fs	FMR1_uc011mwz.2_Frame_Shift_Del_p.K273fs|FMR1_uc004fcj.3_Frame_Shift_Del_p.K273fs|FMR1_uc022cgc.1_Frame_Shift_Del_p.K273fs|FMR1_uc022cgd.1_Non-coding_Transcript|FMR1_uc004fck.4_Frame_Shift_Del_p.K273fs|FMR1_uc022cge.1_Frame_Shift_Del_p.K273fs|FMR1_uc022cgf.1_Frame_Shift_Del_p.K273fs|FMR1_uc022cgg.1_Non-coding_Transcript|FMR1_uc004fcl.4_Frame_Shift_Del_p.K134fs|FMR1_uc011mxa.2_5'UTR	NM_002024	NP_002015	Q06787	FMR1_HUMAN	Homo sapiens fragile X mental retardation 1 (FMR1), transcript variant ISO1, mRNA.	273					mRNA transport|negative regulation of translational initiation	cytoplasm|mRNA cap binding complex|nucleolus|nucleoplasm|soluble fraction	mRNA binding|protein binding			NS(1)|breast(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	35	Acute lymphoblastic leukemia(192;6.56e-05)					GGATGCAGTGAAAAAAGCTAG	0.333									Fragile X syndrome				---	161	---	---	15	---					
